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"id": "vMCx1S37aIe4" - } - }, - { - "cell_type": "code", - "source": [ - "import pandas as pd\n", - "# Read the CSV file into a Pandas DataFrame\n", - "Gard = pd.read_csv('/content/exporttttt.csv')\n", - "import nltk\n", - "nltk.download('punkt')\n", - "from nltk.stem import PorterStemmer\n", - "from nltk.tokenize import word_tokenize\n", - "import re\n", - "import json\n", - "def extract_words_from_json_string(json_string):\n", - " try:\n", - " word_list = json.loads(json_string)\n", - " words = [word.replace('\"', '').strip() for word in word_list ]\n", - " return words\n", - " except (json.JSONDecodeError, TypeError) as e:\n", - " #print(f\"Error decoding JSON: {e}\")\n", - " return []\n", - "\n", - "Gard['GardName'] = Gard['GardName'].apply(lambda x: str(x).replace('\"', '').lower())\n", - "Gard['Synonyms'] = Gard['Synonyms'].apply(lambda x: extract_words_from_json_string(str(x).lower()))\n", - "\n", - "import pandas as pd\n", - "def remove_similar_strings(df):\n", - " for i in df.index:\n", - " if i % 2000 ==0 : print(i)\n", - " for j in df.index:\n", - " if i != j:\n", - " string_a = df['GardName'][i]\n", - " list_b = df['Synonyms'][j]\n", - " for item in list_b: # Using [:] for iterating a copy of the list\n", - " if item == string_a:\n", - " list_b.remove(item)\n", - " return df\n", - "\n", - "Gard= remove_similar_strings(Gard)" - ], - "metadata": { - "id": "NIea8qYKbSlK" - }, - "execution_count": null, - "outputs": [] - }, - { - "cell_type": "code", - "source": [ - "import pandas as pd\n", - "import ast\n", - "def extract_words_from_json_string(input_string):\n", - " try:\n", - " # Use ast.literal_eval to safely convert the string to a list\n", - " result_list = ast.literal_eval(input_string)\n", - " if isinstance(result_list, list):\n", - " return result_list\n", - " else:\n", - " raise ValueError(\"Input is not a string representation of a list.\")\n", - " except (ValueError, SyntaxError) as e:\n", - " print(f\"Error converting string to list: {e}\")\n", - " return None\n", - "\n", - "def len_chcek(row):\n", - " return [w for w in row if (len(w) >4) or (w == \"sars\") ]\n", - "\n", - "\n", - "Gard = pd.read_csv('/content/Gard_V1.csv')\n", - "Gard['Synonyms'] = Gard['Synonyms'].apply(lambda x: extract_words_from_json_string(x))\n", - "Gard['Synonyms'] =Gard['GardName'].apply(lambda x: [x])+Gard['Synonyms']\n", - "\n", - "####################### BOW ########################################################################\n", - "from itertools import permutations\n", - "def generate_term_orders(terms):\n", - " words = terms.split()\n", - " if len(words) ==2:\n", - " all_permutations = list(permutations(words))\n", - " orders = [' '.join(permutation) for permutation in all_permutations]\n", - " return orders\n", - " else: return [terms]\n", - "\n", - "def generate_term_orders_list_of_sords(words):\n", - " X=[]\n", - " for i in words:\n", - " X+=generate_term_orders(i)\n", - " return X\n", - "#Gard['Synonyms_bow']=Gard['Synonyms'].apply(lambda x: generate_term_orders_list_of_sords(x) )\n", - "\n", - "######################## Removing stop words #########################################################\n", - "import nltk\n", - "from nltk.corpus import stopwords\n", - "from nltk.tokenize import word_tokenize\n", - "# Download the stop words dataset\n", - "nltk.download('stopwords')\n", - "nltk.download('punkt')\n", - "\n", - "def process_row(row):\n", - " words = row.split()\n", - " if len(words) > 2 :\n", - " words = [word.lower() for word in words if word.lower() not in ['syndrome','syndromes', 'disease','diseases']]\n", - " return ' '.join(words)\n", - "def process_row_list(row):\n", - " return [process_row(w) for w in row]\n", - "Gard['Synonyms_sw'] = Gard['Synonyms'].apply(lambda x: process_row_list(x))\n", - "Gard['Synonyms_sw_bow']=Gard['Synonyms_sw'].apply(lambda x: generate_term_orders_list_of_sords(x) )\n", - "Gard['Synonyms_sw_bow']=Gard['Synonyms_sw_bow'].apply(lambda x: list(set(len_chcek(x))) )\n", - "\n", - "def remove_stop_words(text):\n", - " stop_words = set(stopwords.words('english'))\n", - " words = word_tokenize(text)\n", - " filtered_words = [word for word in words if word.lower() not in stop_words]\n", - " return ' '.join(filtered_words)\n", - "def process_row_list_2(row):\n", - " return [remove_stop_words(w) if (remove_stop_words(w) != '' and len(w.split()) > 2) else w for w in row]\n", - "\n", - "#Gard['Synonyms_sw_nltk'] = Gard['Synonyms_sw'].apply(lambda x: process_row_list_2(x))\n", - "#Gard['Synonyms_sw_nltk']=Gard['Synonyms_sw_nltk']+Gard['Synonyms_sw']\n", - "#Gard['Synonyms_sw_nltk'] = Gard['Synonyms_sw_nltk'].apply(lambda x: list(set(x)))\n", - "\n", - "######################## Text stemming #########################################################\n", - "import nltk\n", - "nltk.download('punkt')\n", - "from nltk.stem import PorterStemmer\n", - "from nltk.tokenize import word_tokenize\n", - "import re\n", - "def stem_text(text):\n", - " # Initialize the Porter Stemmer\n", - " stemmer = PorterStemmer()\n", - " # Remove punctuation\n", - " text_without_punctuation = re.sub(r'[^\\w\\s]', '', text)\n", - " # Tokenize the text into words\n", - " words = word_tokenize(text_without_punctuation)\n", - " # Perform stemming on each word\n", - " stemmed_words = [stemmer.stem(word) for word in words]\n", - " # Join the stemmed words back into a single string\n", - " stemmed_text = ' '.join(stemmed_words)\n", - " return stemmed_text\n", - "def stem_text_list(row):\n", - " return [stem_text(w) for w in row if len(stem_text(w)) >2 ]\n", - "\n", - "#Gard['Synonyms_stem'] = Gard['Synonyms'].apply(lambda x: stem_text_list(x))\n", - "#Gard['Synonyms_stem_bow']=Gard['Synonyms_stem'].apply(lambda x: generate_term_orders_list_of_sords(x) )\n", - "Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw'].apply(lambda x: stem_text_list(x))\n", - "Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem'].apply(lambda x: generate_term_orders_list_of_sords(x) )\n", - "Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw'].apply(lambda x:list(set(len_chcek(x))) )\n", - "Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem_bow'].apply(lambda x: list(set(len_chcek(x))) )\n", - "\n", - "Gard['Synonyms_sw'] = Gard['Synonyms_sw'].apply(lambda x: list(set(len_chcek(x))) )" - ], - "metadata": { - "colab": { - "base_uri": "https://localhost:8080/" - }, - "id": "tKhnsUHhaLkF", - "outputId": "080a29fd-1e09-4c54-f114-1d112478d8a8" - }, - "execution_count": 39, - "outputs": [ - { - "output_type": "stream", - "name": "stderr", - "text": [ - "[nltk_data] Downloading package stopwords to /root/nltk_data...\n", - "[nltk_data] Unzipping corpora/stopwords.zip.\n", - "[nltk_data] Downloading package punkt to /root/nltk_data...\n", - "[nltk_data] Unzipping tokenizers/punkt.zip.\n", - "[nltk_data] Downloading package punkt to /root/nltk_data...\n", - "[nltk_data] Package punkt is already up-to-date!\n" - ] - } - ] - }, - { - "cell_type": "markdown", - "source": [ - "# GardNameExtractor" - ], - "metadata": { - "id": "AXLmdZvdbwn8" - } - }, - { - "cell_type": "code", - "source": [ - "#Gard.to_csv('Gard_V1.csv', index=False)\n", - "#Abstract = pd.read_csv('/content/Abstract_v5 (1).csv')#/content/abstract.csv')\n", - "Abstract = pd.read_csv('/content/check_.csv')#/content/abstract.csv')\n" - ], - "metadata": { - "id": "LTTJge7Ta_PW" - }, - "execution_count": 3, - "outputs": [] - }, - { - "cell_type": "code", - "source": [ - "def split_sentence(sentence):\n", - " # Use regular expression to split words without including punctuation\n", - " words = re.findall(r'\\b\\w+\\b', sentence)\n", - " return words\n", - "def word_matching(text,word):\n", - " for i in split_sentence(word):\n", - " if i not in text:\n", - " return False\n", - " return True\n", - "\n", - "def get_gard_title(text, list_chcek):\n", - " if list_chcek in ['Synonyms_stem','Synonyms_sw_stem','Synonyms_stem_bow','Synonyms_sw_stem_bow']: text1=stem_text(text.lower())\n", - " elif list_chcek in [ 'Synonyms_sw_nltk'] : text1=remove_stop_words(text.lower())\n", - " else: text1=text.lower()\n", - " text2=split_sentence(text1)\n", - " out=dict()\n", - " for i in Gard.index:\n", - " if Gard[list_chcek][i] != []:\n", - " for j in Gard[list_chcek][i]:\n", - " if j in text1 and word_matching(text2,j)==True:\n", - " if Gard['GardName'][i] in out:\n", - " if len(j.split()) ==1: out[Gard['GardName'][i]][0]+=text2.count(j)\n", - " else: out[Gard['GardName'][i]][0]+=text1.count(j)\n", - " else:\n", - " if len(j.split()) ==1:out[Gard['GardName'][i]]=[text2.count(j)]\n", - " else: out[Gard['GardName'][i]]=[text1.count(j)]\n", - " if out== {}: return None\n", - " return out\n", - "\n", - "def get_gard_title_stem_exact(text):\n", - " exact_matching=get_gard_title(text, 'Synonyms_sw_bow')\n", - " #print(exact_matching)\n", - " Stemming_chcek=get_gard_title(text, 'Synonyms_sw_stem_bow')\n", - " #print(Stemming_chcek)\n", - " if exact_matching is None:\n", - " exact_matching = {}\n", - " if Stemming_chcek is None:\n", - " Stemming_chcek = {}\n", - " combined_dict = {}\n", - " combined_dict.update(exact_matching)\n", - " combined_dict.update(Stemming_chcek)\n", - " # Remove keys that are part of another key\n", - " keys_to_remove = set()\n", - " for key1 in combined_dict:\n", - " for key2 in combined_dict:\n", - " if key1 != key2 and key1 in key2:\n", - " keys_to_remove.add(key1)\n", - " for key in keys_to_remove:\n", - " del combined_dict[key]\n", - " if combined_dict=={}:return None\n", - " for key1 in combined_dict:\n", - " combined_dict[key1]=1\n", - " return combined_dict" - ], - "metadata": { - "id": "cC7g-SL4hRfv" - }, - "execution_count": 40, - "outputs": [] - }, - { - "cell_type": "code", - "source": [ - "get_gard_title_stem_exact('RECOMBINANT DNA STRATEGIES--DUCHENNE MUSCULAR DYSTROPHY')" - ], - "metadata": { - "colab": { - "base_uri": "https://localhost:8080/" - }, - "id": "o3X13m3ZiHBl", - "outputId": "bc4d9250-e427-494d-c608-180795e64b92" - }, - "execution_count": null, - "outputs": [ - { - "output_type": "execute_result", - "data": { - "text/plain": [ - "{'duchenne muscular dystrophy': [1]}" - ] - }, - "metadata": {}, - "execution_count": 15 - } - ] - }, - { - "cell_type": "code", - "source": [ - "Abstract1['Gard_name_title_finalized']=Abstract1.apply(lambda x: get_gard_title_stem_exact(x['project_title']), axis=1)" - ], - "metadata": { - "id": "8idWnyJWiGGE" - }, - "execution_count": null, - "outputs": [] - }, - { - "cell_type": "code", - "source": [ - "import spacy\n", - "# Load spaCy model with sentencizer component\n", - "nlp = spacy.load(\"en_core_web_sm\")\n", - "# Function to determine verb tense\n", - "def get_verb_tense(verb):\n", - " if \"VBD\" in verb.tag_:\n", - " return \"past\"\n", - " elif (\"MD\" in verb.tag_ and \"will\" in verb.lemma_.lower()) or ('aim' in verb.lemma_.lower() ) :\n", - " return \"future\"\n", - " elif \"VBP\" in verb.tag_ or \"VBZ\" in verb.tag_:\n", - " return \"present\"\n", - " else:\n", - " return \"unknown\"\n", - "# Function to determine if a sentence is negated\n", - "def is_sentence_negated(sentence):\n", - " for token in sentence:\n", - " if token.dep_ == \"neg\":\n", - " return True\n", - " return False\n", - "\n", - "\n", - "def check_sen(text):\n", - " # Process the text\n", - " doc = nlp(text)\n", - " # Iterate over sentences in the document\n", - " first_sentence = ''\n", - " Priority,Future_positive,present_positive,positive='','','',''\n", - " for i, sent in enumerate(doc.sents, 1):\n", - " # Initialize a set to store unique tenses in the sentence\n", - " sentence_tenses = set()\n", - " # Iterate over tokens in the sentence\n", - " for token in sent:\n", - " # Check if the token is a verb\n", - " if token.pos == spacy.symbols.VERB or token.pos == spacy.symbols.AUX:\n", - " # Check the tense of the verb\n", - " tense = get_verb_tense(token)\n", - " sentence_tenses.add(tense)\n", - "\n", - " # Determine the overall tense of the sentence\n", - " if is_sentence_negated(sent)==False and (\"past\" not in sentence_tenses):\n", - " if i == 1: first_sentence = sent.text\n", - " #positive+=sent.text\n", - " elif (\"the goal of\" in sent.text.lower()) or (\"aim\" in sent.text.lower()):\n", - " Priority+=sent.text\n", - " elif \"future\" in sentence_tenses:\n", - " Future_positive+=sent.text\n", - " elif \"present\" in sentence_tenses and is_sentence_negated(sent)==False:\n", - " present_positive+=sent.text\n", - " if i == 1: first_sentence = sent.text\n", - " return first_sentence,Priority,Future_positive,present_positive #,\n", - "# Sample text\n", - "text = \"The goal of tis project was ird. This aim is not to go the first sentence. This is not the second sentence? And this is the third sentence.\"\n", - "check_sen(text)\n", - "\n", - "def get_sentence_with_word(paragraph, target_word):\n", - " if not isinstance(paragraph, str):\n", - " return ''\n", - "\n", - " # Define characters indicating the start of a new sentence\n", - " new_sentence_chars = ['-', ':', ';', '1)', '2)', '3)', '4)', '5)', '6)', '7)', '8)']\n", - "\n", - " # Split the paragraph into sentences using provided characters\n", - " for char in new_sentence_chars:\n", - " paragraph = paragraph.replace(char, '.')\n", - "\n", - " # Split the paragraph into sentences using standard punctuation\n", - " sentences = re.split(r'(? similarity_threshold\n", - "\n", - "\n", - "def harmonic_mean(numbers):\n", - " reciprocal_sum = sum(1 / x for x in numbers)\n", - " # Avoid division by zero\n", - " if reciprocal_sum == 0:\n", - " return float('inf')\n", - " harmonic_mean = len(numbers) / reciprocal_sum\n", - " return harmonic_mean" - ], - "metadata": { - "colab": { - "base_uri": "https://localhost:8080/" - }, - "id": "mKSfurhaTJ7Q", - "outputId": "bbffe13a-4bc2-42fb-9386-a38f135e788f" - }, - "execution_count": 91, - "outputs": [ - { - "output_type": "stream", - "name": "stdout", - "text": [ - "Requirement already satisfied: sentence-transformers in /usr/local/lib/python3.10/dist-packages (2.2.2)\n", - "Requirement already satisfied: torch in /usr/local/lib/python3.10/dist-packages (2.1.0+cu121)\n", - "Requirement already satisfied: transformers in /usr/local/lib/python3.10/dist-packages (4.35.2)\n", - "Requirement already satisfied: tqdm in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (4.66.1)\n", - "Requirement already satisfied: torchvision in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (0.16.0+cu121)\n", - "Requirement already satisfied: numpy in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (1.23.5)\n", - "Requirement already satisfied: scikit-learn in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (1.2.2)\n", - 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"Requirement already satisfied: pillow!=8.3.*,>=5.3.0 in /usr/local/lib/python3.10/dist-packages (from torchvision->sentence-transformers) (9.4.0)\n" - ] - } - ] - }, - { - "cell_type": "code", - "source": [ - "def normalize_combined_dictionary(input_text,dict1, dict2, dict3, dict4,min_, max_):\n", - " dict1 = {key: value * 4 for key, value in dict1.items()}\n", - " # Make the values of the second dictionary two times\n", - " dict2 = {key: value * 3 for key, value in dict2.items()}\n", - " dict3 = {key: value * 2 for key, value in dict3.items()}\n", - " # Combine all dictionaries\n", - " combined_dict = {key: dict1.get(key, 0) + dict2.get(key, 0) + dict3.get(key, 0) + dict4.get(key, 0) for key in set(dict1) | set(dict2) | set(dict3) | set(dict4)}\n", - " # Normalize the values of the combined dictionary\n", - " total_frequency = sum(combined_dict.values())\n", - "\n", - " # Check if total_frequency is zero to avoid division by zero\n", - " if total_frequency == 0:\n", - " return {}\n", - " normalized_dict = {key: min_ + (max_ - min_) * (value / total_frequency) for key, value in combined_dict.items()}\n", - "\n", - " result_dict = {}\n", - " for key, value in normalized_dict.items():\n", - " if is_about_term(input_text.lower(), key) >=0.7:\n", - " result_dict[key] = [value, is_about_term(input_text.lower(), key)]\n", - " return result_dict\n", - "\n", - "\n", - "def update_dictionary(dictionary):\n", - " updated_dict = {}\n", - " for key, value in dictionary.items():\n", - " new_key = Gard[Gard['GardName'] == key]['GardId'].tolist()\n", - " if new_key:\n", - " new_key = new_key[0].replace('\"', '')\n", - " updated_dict[(key,new_key)] = value\n", - " else:\n", - " updated_dict[key] = value\n", - " return updated_dict\n", - "\n", - "def grad_id(title_, Public_health_relevance_statement, abstract_):\n", - " if not isinstance(title_, str) and not isinstance(Public_health_relevance_statement, str) and not isinstance(abstract_, str):\n", - " return '' # Return default values when no string input is provided\n", - " if title_ and isinstance(title_, str):\n", - " name = get_gard_title_stem_exact(title_)\n", - " if name: return name\n", - "\n", - " if Public_health_relevance_statement and isinstance(Public_health_relevance_statement, str):\n", - " A, B, C,D = check_sen(Public_health_relevance_statement)\n", - " name1 = get_gard_abstract_stem_exact(A)\n", - " name2 = get_gard_abstract_stem_exact(B)\n", - " name3 = get_gard_abstract_stem_exact(C)\n", - " name4 = get_gard_abstract_stem_exact(D)\n", - " name=normalize_combined_dictionary(Public_health_relevance_statement,name1,name2,name3,name4,0.7,0.9)\n", - " if name and (name !={}): return name\n", - "\n", - " if abstract_ and isinstance(abstract_, str):\n", - " A, B, C , D = check_sen(abstract_)\n", - " name1 = get_gard_abstract_stem_exact(A)\n", - " name2 = get_gard_abstract_stem_exact(B)\n", - " name3 = get_gard_abstract_stem_exact(C)\n", - " name4 = get_gard_abstract_stem_exact(D)\n", - " name=normalize_combined_dictionary(abstract_,name1,name2,name3,name4,0,0.7)\n", - " if name and (name !={}): return name\n" - ], - "metadata": { - "id": "BfkBSD0XlBJL" - }, - "execution_count": 92, - "outputs": [] - }, - { - "cell_type": "code", - "source": [ - "Abstract = pd.read_csv('/content/Sample_2.csv')#/content/abstract.csv')\n", - "Abstract1=Abstract[:100]\n", - "#Abstract1.columns\n", - "Abstract1['Gard_name']=Abstract1.apply(lambda x: grad_id(x['project_title'],x['phr_text'],x['abstract_text']), axis=1)" - ], - "metadata": { - "colab": { - "base_uri": "https://localhost:8080/" - }, - "id": "Su43IWALRsGf", - "outputId": "eddc2b98-f6ff-4d81-896f-3de16ce227e6" - }, - "execution_count": 93, - "outputs": [ - { - "output_type": "stream", - "name": "stderr", - "text": [ - ":4: SettingWithCopyWarning: \n", - "A value is trying to be set on a copy of a slice from a DataFrame.\n", - "Try using .loc[row_indexer,col_indexer] = value instead\n", - "\n", - "See the caveats in the documentation: https://pandas.pydata.org/pandas-docs/stable/user_guide/indexing.html#returning-a-view-versus-a-copy\n", - " Abstract1['Gard_name']=Abstract1.apply(lambda x: grad_id(x['project_title'],x['phr_text'],x['abstract_text']), axis=1)\n" - ] - } - ] - }, - { - "cell_type": "code", - "source": [ - "Abstract1.to_csv('check_6.csv', index=False)" - ], - "metadata": { - "id": "1O5_zzgNU_Mk" - }, - "execution_count": 94, - "outputs": [] - }, - { - "cell_type": "markdown", - "source": [ - "# Other methods" - ], - "metadata": { - "id": "ZIH0efYTUcnz" - } - }, - { - "cell_type": "code", - "source": [ - "# Load pre-trained transformer model and tokenizer\n", - "from sklearn.metrics.pairwise import cosine_similarity\n", - "from transformers import AutoTokenizer, AutoModel\n", - "import torch\n", - "import numpy as np\n", - "model_name=\"bert-base-uncased\"\n", - "max_seq_length=512\n", - "tokenizer = AutoTokenizer.from_pretrained(model_name)\n", - "model = AutoModel.from_pretrained(model_name)\n", - "\n", - "def embed_paragraph_transformer(paragraph):\n", - " # Tokenize and encode the paragraph\n", - " tokens = tokenizer.tokenize(tokenizer.decode(tokenizer.encode(paragraph)))\n", - " if len(tokens) > max_seq_length:\n", - " tokens = tokens[:max_seq_length-2] # Account for [CLS] and [SEP]\n", - "\n", - " input_ids = tokenizer.convert_tokens_to_ids(tokens)\n", - " input_ids = torch.tensor(input_ids).unsqueeze(0)\n", - "\n", - " # Forward pass to get the transformer output\n", - " with torch.no_grad():\n", - " output = model(input_ids)\n", - "\n", - " # Extract the output embeddings for the entire paragraph\n", - " embeddings = output.last_hidden_state.mean(dim=1).squeeze().numpy()\n", - "\n", - " return embeddings\n", - "#embedding = embed_paragraph_transformer(paragraph_text)\n", - "#print(\"Paragraph Embedding:\", embedding)\n", - "# Function to calculate cosine similarity\n", - "def calculate_cosine_similarity(embedding1, embedding2):\n", - " # Reshape the embeddings to be 2D arrays\n", - " if embedding1 and isinstance(embedding1, str):\n", - " if embedding2 and isinstance(embedding2, str):\n", - " embedding1 = embed_paragraph_transformer(embedding1).reshape(1, -1)\n", - " embedding2 = embed_paragraph_transformer(embedding2).reshape(1, -1)\n", - "\n", - " # Calculate cosine similarity\n", - " similarity = cosine_similarity(embedding1, embedding2)\n", - "\n", - " return similarity[0][0]\n", - " return None\n", - "\n", - "# Example usage:\n", - "paragraph_text = \"This proposal is being submitted as part of a program of training of a Research Scientist Development Award. The aim of this study is to investigate the distribution of glutamate dexarboxylase (GAD), tyrosine hydroxylase (TH), cholecystokinin (CCK), and Leu-Enkephalin (ENK) in the pre-frontal, cingulate, primary motor and visual cortex of monkey and man by means of the indirect peroxidase method for immunocytochemistry. These markers have been chosen because they represent well-knwon transmitter and neuropeptide systems present in cerbral cortex and primary anti-sera raised against them are currently available. Tissues will be processed for both light and electron microscopic evaluation. At the light microscopic level, determination of cell counts of neurones in the six layers of cortex will be made by morphometric analysis. The numbers of immunoreactive neurones for each marker will be expressed as a percentage of the total number of cells determined with Nissl-stained sections. Electron microscopic studies for both unreacted and immunoreacted tissues will be observed for the morphological features of cell bodies positive for a given marker, and the nature of the terminals it receives. Where two separate markers appear to interact, double-labelling immunocytochemistry will be applied. Cerbral cortex from both schizophrenic and Huntington disease brains will also be processed for similar morphometric and immunocytochemical studies at the light, and where feasible, the electron microscopic levels. Data from these pathological conditions associated with cognitive impairment will be compared with that obtained from control human and monkey experiments. The overall integrity of the cortical cytoarchitecture and associated markers will be evaluated for organizational disruptions in the disease state. \"\n", - "print(calculate_cosine_similarity(paragraph_text, 'arthrochalasia ehlers-danlos syndrome'))\n", - "print(calculate_cosine_similarity(paragraph_text, 'arterial tortuosity syndrome'))" - ], - "metadata": { - "colab": { - "base_uri": "https://localhost:8080/" - }, - "id": "H4TaBSyspNxL", - "outputId": "e7f01f21-1c40-46f9-e777-9013b687d5b9" - }, - "execution_count": 20, - "outputs": [ - { - "output_type": "stream", - "name": "stdout", - "text": [ - "0.67534995\n", - "0.46206558\n" - ] - } - ] - }, - { - "cell_type": "code", - "source": [ - "#!pip install sentence-transformers\n", - "\n", - "from sentence_transformers import SentenceTransformer, util\n", - "\n", - "def is_about_term(input_text, target_term):\n", - " # Load pretrained BERT model\n", - " model = SentenceTransformer('paraphrase-albert-small-v2')\n", - " #'paraphrase-MiniLM-L3'\n", - " # 'paraphrase-distilroberta-base-v1'\n", - " #'paraphrase-albert-small-v2'\n", - " #'paraphrase-MiniLM-L6-v2'\n", - "#FlagEmbedding bge-large-en-v1.5\n", - "#OpenAI text-embedding-ada-002\n", - "#HuggingFace sentence-transformers/all-MiniLM-L6-v2\n", - "#Jina AI jina-embeddings-v2-base-en\n", - "#Cohere embed-english-v3.0\n", - "\n", - " # Encode input text and target term\n", - " text_embedding = model.encode(input_text, convert_to_tensor=True)\n", - " term_embedding = model.encode(target_term, convert_to_tensor=True)\n", - "\n", - " # Calculate cosine similarity between text and term\n", - " similarity = util.pytorch_cos_sim(text_embedding, term_embedding)\n", - "\n", - " # Define a threshold for similarity\n", - " similarity_threshold = 0.6\n", - "\n", - " # Return True if similarity is above the threshold, indicating the text is about the term\n", - " return similarity.item() > similarity_threshold\n", - "\n", - "# Example usage\n", - "text_input = \"The disease is characterized by rare symptoms.The disease is characterized by rare symptoms.\"\n", - "target_term = \"rare disease\"\n", - "\n", - "result = is_about_term(text_input, target_term)\n", - "\n", - "if result:\n", - " print(f\"The text is about the term '{target_term}'.\")\n", - "else:\n", - " print(f\"The text is not about the term '{target_term}'.\")" - ], - "metadata": { - "colab": { - "base_uri": "https://localhost:8080/", - "height": 386, - "referenced_widgets": [ - "28fa1349dd3445138755dc23242b99c8", - "56c287080376498eb2618d4a8f29dbd2", - "c483fa23ae164878945f67314bdeed2c", - "188f44c5055e40f189fa0753ffdab49e", - "3d3d6112e9f9485fa64fb2ead68e925a", - "ea9f2410b0eb4d969b53895d8a60daa9", - "2330fcd5c64a4c63b4288f2865aa732e", - "c3c89b1715fa43b088b5d9b1e89d5748", - "381cb4a171544649a2070db395be10e4", - "ca0950794c0c4bfc84ed004deca67440", - "4ba90f05a3c745b09177ce61c8674c8e", - "92defbd17e6545a086931a731a3203a1", - "654ab6a652c940dc9cda17ccd97bc7d3", - "d45e65ac3a364e60b55ba6d8749cf1ea", - "86fed776d19c4e6bbdd58c4e1ea57d89", - "e2bfd28c67314e3e86873f49bcebf6a7", - "76394c6e4f874fb397c3426c3a655fc0", - 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{ - "output_type": "display_data", - "data": { - "text/plain": [ - "modules.json: 0%| | 0.00/229 [00:00 similarity_threshold\n", - "\n", - "# Example usage\n", - "text_input = \"\"\"\n", - "The University of Utah proposes to participate as a member of the Children's Cancer Study Group (CCSG) in the scientific design and execution of cooperative clinical research studies of childhood malignant neoplastic dieases. Utah's multi-disciplinary team of investigators have participated actively in CCSG for sixteen consecutive years. For more than a decade, Dr. Eugene Lahey led Utah's CCSG effort. In 1980, Dr. Richard O'Brien became Utah's CCSG principal investigator. He recruited a number of younger investigators with outstanding potential to supplement the experienced contributors to Utah's CCSG effort. Over the past three years Utah has aggressively enhanced its record of scientific and leadership contributions to CCSG. Dr. O'Brien, a member of the CCSG Late Effects Committee, is chairman of a proposed CCSG study (CCG-105N) expected to open for patient entry in April 1984, which will prospectively evaluate the neuropsychological effects of acute lymphoblastic leukemia (ALL) and its therapy. Dr. O'Brien is a member of a new, first line ALL study (CCG-105) and is also a member of two other new CCSG studies - Advanced Hodgkin's Disease (CCG-521) and Good Risk Medulloblastoma (CCG-923). Each of these studies address questions concerning possible late effects of therapy, an area of investigation in which Dr. O'Brien has special interest. Dr. Carl Kjeldsberg has joined Dr. John Wilson as major pathologists for CCSG lymphoma studies and they are responsible for \"rapid review\" of all NHL specimens. As a result, Utah serves as a Central Reference Pathology Laboratory for many of the CCSG lymphoma studies. In addition, their investigative work is defining the importance of histopathology in disease management. Dr. Dale Johnson is Vice Chairman of the Surgical Steering Committee, a member of the rhabdomyosarcoma study, a new relapsed ALL study (CCG-112) and has written the surgical guidelines for testicular biopsy for all ALL patients. Consequently, in the past three years under new leadership, there has been an impressive resurgance of Utah's scientific contributions to CCSG. Four Utah investigators are now key participants in more than half dozen new, first line CCSG studies, the results of which should be realized over the next few years. This recent record demonstrates the important role that Utah investigators play in the current and, particularly, the future scientific goals and accomplishments of CCSG.\"\"\"\n", - "target_term = \"rhabdomyosarcoma\"\n", - "\n", - "result = is_about_term(text_input, target_term)\n", - "\n", - "if result:\n", - " print(result)\n", - " print(f\"The text is about the term '{target_term}'.\")\n", - "else:\n", - " print(f\"The text is not about the term '{target_term}'.\")" - ], - "metadata": { - "colab": { - "base_uri": "https://localhost:8080/" - }, - "id": "53q2jUPNy8UG", - "outputId": "b69fd750-b22d-45a2-9ce9-61633070aeaa" - }, - "execution_count": 2, - "outputs": [ - { - "output_type": "stream", - "name": "stdout", - "text": [ - "Requirement already satisfied: sentence-transformers in /usr/local/lib/python3.10/dist-packages (2.3.0)\n", - "Requirement already satisfied: torch in /usr/local/lib/python3.10/dist-packages (2.1.0+cu121)\n", - "Requirement already satisfied: transformers in /usr/local/lib/python3.10/dist-packages (4.35.2)\n", - 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"Requirement already satisfied: idna<4,>=2.5 in /usr/local/lib/python3.10/dist-packages (from requests->transformers) (3.6)\n", - "Requirement already satisfied: urllib3<3,>=1.21.1 in /usr/local/lib/python3.10/dist-packages (from requests->transformers) (2.0.7)\n", - "Requirement already satisfied: certifi>=2017.4.17 in /usr/local/lib/python3.10/dist-packages (from requests->transformers) (2023.11.17)\n", - "Requirement already satisfied: threadpoolctl>=2.0.0 in /usr/local/lib/python3.10/dist-packages (from scikit-learn->sentence-transformers) (3.2.0)\n", - "Requirement already satisfied: mpmath>=0.19 in /usr/local/lib/python3.10/dist-packages (from sympy->torch) (1.3.0)\n", - "0.7364452481269836\n", - "The text is about the term 'rhabdomyosarcoma'.\n" - ] - } - ] - } - ] -} \ No newline at end of file diff --git a/RDAS_GFKG/GardNameExtractor/GardNameExtractor.py b/RDAS_GFKG/GardNameExtractor/GardNameExtractor.py deleted file mode 100755 index 0bd8932..0000000 --- a/RDAS_GFKG/GardNameExtractor/GardNameExtractor.py +++ /dev/null @@ -1,366 +0,0 @@ -# -*- coding: utf-8 -*- -"""Untitled12.ipynb - -Automatically generated by Colaboratory. - -Original file is located at - https://colab.research.google.com/drive/10h9Fg0RO5qLQwUakZNbtzvaNZDib7sLn -""" - -import pandas as pd -# Read the CSV file into a Pandas DataFrame -#Gard = pd.read_csv('/content/exporttttt.csv') -import nltk -from nltk.corpus import stopwords -from nltk.stem import PorterStemmer -from nltk.tokenize import word_tokenize -nltk.download('stopwords') -nltk.download('punkt') -import re -import json -import ast -from itertools import permutations -from sentence_transformers import SentenceTransformer, util -from transformers import AutoTokenizer, AutoModel -import torch - -# Sample text -#text = "The goal of tis project was ird. This aim is not to go the first sentence. This is not the second sentence? And this is the third sentence." -#check_sen(text) - -def split_sentence(sentence): - # Use regular expression to split words without including punctuation - words = re.findall(r'\b\w+\b', sentence) - return words -def word_matching(text,word): - for i in split_sentence(word): - if i not in text: - return False - return True - -def get_gard_title(text, list_chcek): - if list_chcek in ['Synonyms_stem','Synonyms_sw_stem','Synonyms_stem_bow','Synonyms_sw_stem_bow']: text1=stem_text(text.lower()) - elif list_chcek in [ 'Synonyms_sw_nltk'] : text1=remove_stop_words(text.lower()) - else: text1=text.lower() - text2=split_sentence(text1) - out=dict() - for i in Gard.index: - if Gard[list_chcek][i] != []: - for j in Gard[list_chcek][i]: - if j in text1 and word_matching(text2,j)==True: - if Gard['GardName'][i] in out: - if len(j.split()) ==1: out[Gard['GardName'][i]][0]+=text2.count(j) - else: out[Gard['GardName'][i]][0]+=text1.count(j) - else: - if len(j.split()) ==1:out[Gard['GardName'][i]]=[text2.count(j)] - else: out[Gard['GardName'][i]]=[text1.count(j)] - if out== {}: return None - return out - -def get_gard_title_stem_exact(text): - exact_matching=get_gard_title(text, 'Synonyms_sw_bow') - #print(exact_matching) - Stemming_chcek=get_gard_title(text, 'Synonyms_sw_stem_bow') - #print(Stemming_chcek) - if exact_matching is None: - exact_matching = {} - if Stemming_chcek is None: - Stemming_chcek = {} - combined_dict = {} - combined_dict.update(exact_matching) - combined_dict.update(Stemming_chcek) - # Remove keys that are part of another key - keys_to_remove = set() - for key1 in combined_dict: - for key2 in combined_dict: - if key1 != key2 and key1 in key2: - keys_to_remove.add(key1) - for key in keys_to_remove: - del combined_dict[key] - if combined_dict=={}:return None - for key1 in combined_dict: - combined_dict[key1]=1 - return combined_dict - -import spacy -# Load spaCy model with sentencizer component -nlp = spacy.load("en_core_web_sm") -# Function to determine verb tense -def get_verb_tense(verb): - if "VBD" in verb.tag_: - return "past" - elif ("MD" in verb.tag_ and "will" in verb.lemma_.lower()) or ('aim' in verb.lemma_.lower() ) : - return "future" - elif "VBP" in verb.tag_ or "VBZ" in verb.tag_: - return "present" - else: - return "unknown" -# Function to determine if a sentence is negated -def is_sentence_negated(sentence): - for token in sentence: - if token.dep_ == "neg": - return True - return False - - -def check_sen(text): - # Process the text - doc = nlp(text) - # Iterate over sentences in the document - first_sentence = '' - Priority,Future_positive,present_positive,positive='','','','' - for i, sent in enumerate(doc.sents, 1): - # Initialize a set to store unique tenses in the sentence - sentence_tenses = set() - # Iterate over tokens in the sentence - for token in sent: - # Check if the token is a verb - if token.pos == spacy.symbols.VERB or token.pos == spacy.symbols.AUX: - # Check the tense of the verb - tense = get_verb_tense(token) - sentence_tenses.add(tense) - - # Determine the overall tense of the sentence - if is_sentence_negated(sent)==False and ("past" not in sentence_tenses): - if i == 1: first_sentence = sent.text - #positive+=sent.text - elif ("the goal of" in sent.text.lower()) or ("aim" in sent.text.lower()): - Priority+=sent.text - elif "future" in sentence_tenses: - Future_positive+=sent.text - elif "present" in sentence_tenses and is_sentence_negated(sent)==False: - present_positive+=sent.text - if i == 1: first_sentence = sent.text - return first_sentence,Priority,Future_positive,present_positive - - -def get_sentence_with_word(paragraph, target_word): - if not isinstance(paragraph, str): - return '' - - # Define characters indicating the start of a new sentence - new_sentence_chars = ['-', ':', ';', '1)', '2)', '3)', '4)', '5)', '6)', '7)', '8)'] - - # Split the paragraph into sentences using provided characters - for char in new_sentence_chars: - paragraph = paragraph.replace(char, '.') - - # Split the paragraph into sentences using standard punctuation - sentences = re.split(r'(? similarity_threshold - - -def normalize_combined_dictionary(input_text,dict1, dict2, dict3, dict4,min_, max_): - dict1 = {key: value * 4 for key, value in dict1.items()} - # Make the values of the second dictionary two times - dict2 = {key: value * 3 for key, value in dict2.items()} - dict3 = {key: value * 2 for key, value in dict3.items()} - # Combine all dictionaries - combined_dict = {key: dict1.get(key, 0) + dict2.get(key, 0) + dict3.get(key, 0) + dict4.get(key, 0) for key in set(dict1) | set(dict2) | set(dict3) | set(dict4)} - # Normalize the values of the combined dictionary - total_frequency = sum(combined_dict.values()) - - # Check if total_frequency is zero to avoid division by zero - if total_frequency == 0: - return {} - normalized_dict = {key: min_ + (max_ - min_) * (value / total_frequency) for key, value in combined_dict.items()} - - result_dict = {} - for key, value in normalized_dict.items(): - if is_about_term(input_text.lower(), key) >=0.7: - result_dict[key] = [value, is_about_term(input_text.lower(), key)] - return result_dict - - -def update_dictionary(dictionary): - updated_dict = {} - for key, value in dictionary.items(): - new_key = Gard[Gard['GardName'] == key]['GardId'].tolist() - if new_key: - new_key = new_key[0].replace('"', '') - updated_dict[(key,new_key)] = value - else: - updated_dict[key] = value - return updated_dict - - - -def grad_id(title_, Public_health_relevance_statement, abstract_): - if not isinstance(title_, str) and not isinstance(Public_health_relevance_statement, str) and not isinstance(abstract_, str): - return '' # Return default values when no string input is provided - if title_ and isinstance(title_, str): - name = get_gard_title_stem_exact(title_) - if name: return name - - if Public_health_relevance_statement and isinstance(Public_health_relevance_statement, str): - A, B, C,D = check_sen(Public_health_relevance_statement) - name1 = get_gard_abstract_stem_exact(A) - name2 = get_gard_abstract_stem_exact(B) - name3 = get_gard_abstract_stem_exact(C) - name4 = get_gard_abstract_stem_exact(D) - name=normalize_combined_dictionary(Public_health_relevance_statement,name1,name2,name3,name4,0.7,0.9) - if name and (name !={}): return name - - if abstract_ and isinstance(abstract_, str): - A, B, C , D = check_sen(abstract_) - name1 = get_gard_abstract_stem_exact(A) - name2 = get_gard_abstract_stem_exact(B) - name3 = get_gard_abstract_stem_exact(C) - name4 = get_gard_abstract_stem_exact(D) - name=normalize_combined_dictionary(abstract_,name1,name2,name3,name4,0,0.7) - if name and (name !={}): return name - - - -def GardNameExtractor(project_title,phr_text,abstract_text): - #Abstract1['Gard_name']=Abstract1.apply(lambda x: grad_id(x['project_title'],x['phr_text'],x['abstract_text']), axis=1) - return grad_id(project_title,phr_text,abstract_text) diff --git a/RDAS_GFKG/GardNameExtractor/GardNamePreprocessor.py b/RDAS_GFKG/GardNameExtractor/GardNamePreprocessor.py deleted file mode 100755 index e172d61..0000000 --- a/RDAS_GFKG/GardNameExtractor/GardNamePreprocessor.py +++ /dev/null @@ -1,134 +0,0 @@ -# -*- coding: utf-8 -*- -"""Untitled11.ipynb - -Automatically generated by Colaboratory. - -Original file is located at - https://colab.research.google.com/drive/1N6TG1DlDxPkbv7EJnxZ_cjoHZF1byXt4 -""" - -import pandas as pd -# Read the CSV file into a Pandas DataFrame -#Gard = pd.read_csv('/content/exporttttt.csv') -import nltk -from nltk.corpus import stopwords -from nltk.stem import PorterStemmer -from nltk.tokenize import word_tokenize -nltk.download('stopwords') -nltk.download('punkt') -import re -import json -import ast -from itertools import permutations - -def extract_words_from_json_string(json_string): - try: - word_list = json.loads(json_string) - words = [word.replace('"', '').strip() for word in word_list ] - return words - except (json.JSONDecodeError, TypeError) as e: - #print(f"Error decoding JSON: {e}") - return [] - -def remove_similar_strings(df): - for i in df.index: - if i % 2000 ==0 : print(i) - for j in df.index: - if i != j: - string_a = df['GardName'][i] - list_b = df['Synonyms'][j] - for item in list_b: # Using [:] for iterating a copy of the list - if item == string_a: - list_b.remove(item) - return df - -def extract_words_from_json_string2(input_string): - try: - # Use ast.literal_eval to safely convert the string to a list - result_list = ast.literal_eval(input_string) - if isinstance(result_list, list): - return result_list - else: - raise ValueError("Input is not a string representation of a list.") - except (ValueError, SyntaxError) as e: - print(f"Error converting string to list: {e}") - return None - -def len_chcek(row): - return [w for w in row if (len(w) >4) or (w == "sars") ] - - - -#Gard = pd.read_csv('/content/Gard_V1.csv') -####################### BOW ######################################################################## - -def generate_term_orders(terms): - words = terms.split() - if len(words) ==2: - all_permutations = list(permutations(words)) - orders = [' '.join(permutation) for permutation in all_permutations] - return orders - else: return [terms] - -def generate_term_orders_list_of_sords(words): - X=[] - for i in words: - X+=generate_term_orders(i) - return X - -######################## Removing stop words ######################################################### -def process_row(row): - words = row.split() - if len(words) > 2 : - words = [word.lower() for word in words if word.lower() not in ['syndrome','syndromes', 'disease','diseases']] - return ' '.join(words) -def process_row_list(row): - return [process_row(w) for w in row] - -def remove_stop_words(text): - stop_words = set(stopwords.words('english')) - words = word_tokenize(text) - filtered_words = [word for word in words if word.lower() not in stop_words] - return ' '.join(filtered_words) -def process_row_list_2(row): - return [remove_stop_words(w) if (remove_stop_words(w) != '' and len(w.split()) > 2) else w for w in row] - - - -######################## Text stemming ######################################################### -def stem_text(text): - # Initialize the Porter Stemmer - stemmer = PorterStemmer() - # Remove punctuation - text_without_punctuation = re.sub(r'[^\w\s]', '', text) - # Tokenize the text into words - words = word_tokenize(text_without_punctuation) - # Perform stemming on each word - stemmed_words = [stemmer.stem(word) for word in words] - # Join the stemmed words back into a single string - stemmed_text = ' '.join(stemmed_words) - return stemmed_text -def stem_text_list(row): - return [stem_text(w) for w in row if len(stem_text(w)) >2 ] - -def GardNamePreprocessor(Gard): - Gard['GardName'] = Gard['GardName'].apply(lambda x: str(x).replace('"', '').lower()) - Gard['Synonyms'] = Gard['Synonyms'].apply(lambda x: extract_words_from_json_string(str(x).lower())) - Gard= remove_similar_strings(Gard) - Gard['Synonyms'] = Gard['Synonyms'].apply(lambda x: extract_words_from_json_string(x)) - Gard['Synonyms'] =Gard['GardName'].apply(lambda x: [x])+Gard['Synonyms'] - #Gard['Synonyms_bow']=Gard['Synonyms'].apply(lambda x: generate_term_orders_list_of_sords(x) ) - Gard['Synonyms_sw'] = Gard['Synonyms'].apply(lambda x: process_row_list(x)) - Gard['Synonyms_sw_bow']=Gard['Synonyms_sw'].apply(lambda x: generate_term_orders_list_of_sords(x) ) - Gard['Synonyms_sw_bow']=Gard['Synonyms_sw_bow'].apply(lambda x: list(set(len_chcek(x))) ) - #Gard['Synonyms_sw_nltk'] = Gard['Synonyms_sw'].apply(lambda x: process_row_list_2(x)) - #Gard['Synonyms_sw_nltk']=Gard['Synonyms_sw_nltk']+Gard['Synonyms_sw'] - #Gard['Synonyms_sw_nltk'] = Gard['Synonyms_sw_nltk'].apply(lambda x: list(set(x))) - #Gard['Synonyms_stem'] = Gard['Synonyms'].apply(lambda x: stem_text_list(x)) - #Gard['Synonyms_stem_bow']=Gard['Synonyms_stem'].apply(lambda x: generate_term_orders_list_of_sords(x) ) - Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw'].apply(lambda x: stem_text_list(x)) - Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem'].apply(lambda x: generate_term_orders_list_of_sords(x) ) - Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw'].apply(lambda x:list(set(len_chcek(x))) ) - Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem_bow'].apply(lambda x: list(set(len_chcek(x))) ) - Gard['Synonyms_sw'] = Gard['Synonyms'].apply(lambda x: list(set(len_chcek(x))) ) - return Gard diff --git a/RDAS_GFKG/OrphanMap/FinetuningBERTForSemanticTextualSimilarity_PythonCodeTutorial_D.ipynb b/RDAS_GFKG/OrphanMap/FinetuningBERTForSemanticTextualSimilarity_PythonCodeTutorial_D.ipynb new file mode 100644 index 0000000..7e5b087 --- /dev/null +++ b/RDAS_GFKG/OrphanMap/FinetuningBERTForSemanticTextualSimilarity_PythonCodeTutorial_D.ipynb @@ -0,0 +1,22836 @@ +{ + "nbformat": 4, + "nbformat_minor": 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Install and import the required packages" + ], + "metadata": { + "id": "E2Cu87RMWw-P" + } + }, + { + "cell_type": "code", + "source": [ + "import pandas as pd\n", + "import ast\n", + "def extract_words_from_json_string(input_string):\n", + " try:\n", + " # Use ast.literal_eval to safely convert the string to a list\n", + " result_list = ast.literal_eval(input_string)\n", + " if isinstance(result_list, list):\n", + " return result_list\n", + " else:\n", + " raise ValueError(\"Input is not a string representation of a list.\")\n", + " except (ValueError, SyntaxError) as e:\n", + " print(f\"Error converting string to list: {e}\")\n", + " return None\n", + "\n", + "def len_chcek(row):\n", + " return [w for w in row if (len(w) >4) or (w == \"sars\") ]\n", + "\n", + "\n", + "Gard = pd.read_csv('/content/Gard_V1.csv')\n", + "Gard['Synonyms'] = Gard['Synonyms'].apply(lambda x: extract_words_from_json_string(x))\n", + "Gard['Synonyms'] =Gard['GardName'].apply(lambda x: [x])+Gard['Synonyms']\n", + "\n", + "####################### BOW ########################################################################\n", + "from itertools import permutations\n", + "def generate_term_orders(terms):\n", + " words = terms.split()\n", + " if len(words) ==2:\n", + " all_permutations = list(permutations(words))\n", + " orders = [' '.join(permutation) for permutation in all_permutations]\n", + " return orders\n", + " else: return [terms]\n", + "\n", + "def generate_term_orders_list_of_sords(words):\n", + " X=[]\n", + " for i in words:\n", + " X+=generate_term_orders(i)\n", + " return X\n", + "#Gard['Synonyms_bow']=Gard['Synonyms'].apply(lambda x: generate_term_orders_list_of_sords(x) )\n", + "\n", + "######################## Removing stop words #########################################################\n", + "import nltk\n", + "from nltk.corpus import stopwords\n", + "from nltk.tokenize import word_tokenize\n", + "# Download the stop words dataset\n", + "nltk.download('stopwords')\n", + "nltk.download('punkt')\n", + "\n", + "def process_row(row):\n", + " words = row.split()\n", + " if len(words) > 2 :\n", + " words = [word.lower() for word in words if word.lower() not in ['syndrome','syndromes', 'disease','diseases']]\n", + " return ' '.join(words)\n", + "def process_row_list(row):\n", + " return [process_row(w) for w in row]\n", + "Gard['Synonyms_sw'] = Gard['Synonyms']#.apply(lambda x: process_row_list(x))\n", + "Gard['Synonyms_sw_bow']=Gard['Synonyms_sw'].apply(lambda x: generate_term_orders_list_of_sords(x) )\n", + "Gard['Synonyms_sw_bow']=Gard['Synonyms_sw_bow'].apply(lambda x: list(set(len_chcek(x))) )\n", + "\n", + "def remove_stop_words(text):\n", + " stop_words = set(stopwords.words('english'))\n", + " words = word_tokenize(text)\n", + " filtered_words = [word for word in words if word.lower() not in stop_words]\n", + " return ' '.join(filtered_words)\n", + "def process_row_list_2(row):\n", + " return [remove_stop_words(w) if (remove_stop_words(w) != '' and len(w.split()) > 2) else w for w in row]\n", + "\n", + "#Gard['Synonyms_sw_nltk'] = Gard['Synonyms_sw'].apply(lambda x: process_row_list_2(x))\n", + "#Gard['Synonyms_sw_nltk']=Gard['Synonyms_sw_nltk']+Gard['Synonyms_sw']\n", + "#Gard['Synonyms_sw_nltk'] = Gard['Synonyms_sw_nltk'].apply(lambda x: list(set(x)))\n", + "\n", + "######################## Text stemming #########################################################\n", + "import nltk\n", + "nltk.download('punkt')\n", + "from nltk.stem import PorterStemmer\n", + "from nltk.tokenize import word_tokenize\n", + "import re\n", + "def stem_text(text):\n", + " # Initialize the Porter Stemmer\n", + " stemmer = PorterStemmer()\n", + " # Remove punctuation\n", + " text_without_punctuation = re.sub(r'[^\\w\\s]', '', text)\n", + " # Tokenize the text into words\n", + " words = word_tokenize(text_without_punctuation)\n", + " # Perform stemming on each word\n", + " stemmed_words = [stemmer.stem(word) for word in words]\n", + " # Join the stemmed words back into a single string\n", + " stemmed_text = ' '.join(stemmed_words)\n", + " return stemmed_text\n", + "def stem_text_list(row):\n", + " return [stem_text(w) for w in row if len(stem_text(w)) >2 ]\n", + "\n", + "#Gard['Synonyms_stem'] = Gard['Synonyms'].apply(lambda x: stem_text_list(x))\n", + "#Gard['Synonyms_stem_bow']=Gard['Synonyms_stem'].apply(lambda x: generate_term_orders_list_of_sords(x) )\n", + "Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw'].apply(lambda x: stem_text_list(x))\n", + "Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem'].apply(lambda x: generate_term_orders_list_of_sords(x) )\n", + "#### make different\n", + "Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw_stem'].apply(lambda x:list(set(len_chcek(x))) )\n", + "Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem_bow'].apply(lambda x: list(set(len_chcek(x))) )\n", + "\n", + "Gard['Synonyms_sw'] = Gard['Synonyms_sw'].apply(lambda x: list(set(len_chcek(x))) )\n", + "\n", + "\n", + "Excluding_list = [\n", + " 'GARD:10311', 'GARD:10984', 'GARD:12351', 'GARD:12352', 'GARD:12638',\n", + " 'GARD:12915', 'GARD:12976', 'GARD:12977', 'GARD:15010', 'GARD:15042',\n", + " 'GARD:15066', 'GARD:15076', 'GARD:15080', 'GARD:15092', 'GARD:15112',\n", + " 'GARD:15119', 'GARD:15191', 'GARD:15192', 'GARD:15211', 'GARD:15300',\n", + " 'GARD:15315', 'GARD:15316', 'GARD:15357', 'GARD:15388', 'GARD:15394',\n", + " 'GARD:15395', 'GARD:15401', 'GARD:15402', 'GARD:15403', 'GARD:15415',\n", + " 'GARD:15422', 'GARD:15432', 'GARD:15443', 'GARD:15467', 'GARD:15483',\n", + " 'GARD:15504', 'GARD:15513', 'GARD:15525', 'GARD:15555', 'GARD:15564',\n", + " 'GARD:15565', 'GARD:15566', 'GARD:15567', 'GARD:15587', 'GARD:15600',\n", + " 'GARD:15603', 'GARD:15604', 'GARD:15605', 'GARD:15606', 'GARD:15607',\n", + " 'GARD:15608', 'GARD:15632', 'GARD:15637', 'GARD:15650', 'GARD:15651',\n", + " 'GARD:15657', 'GARD:15659', 'GARD:15696', 'GARD:15697', 'GARD:15752',\n", + " 'GARD:15779', 'GARD:15784', 'GARD:15785', 'GARD:15788', 'GARD:15848',\n", + " 'GARD:15853', 'GARD:15854', 'GARD:15986', 'GARD:15992', 'GARD:16059',\n", + " 'GARD:16131', 'GARD:16161', 'GARD:16184', 'GARD:16265', 'GARD:16267',\n", + " 'GARD:16269', 'GARD:16334', 'GARD:16337', 'GARD:16823', 'GARD:17047',\n", + " 'GARD:17343', 'GARD:17457', 'GARD:17458', 'GARD:17459', 'GARD:17460',\n", + " 'GARD:17461', 'GARD:17462', 'GARD:17463', 'GARD:17464', 'GARD:17465',\n", + " 'GARD:17514', 'GARD:17612', 'GARD:17795', 'GARD:17861', 'GARD:18046',\n", + " 'GARD:18057', 'GARD:18059', 'GARD:18060', 'GARD:18061', 'GARD:18259',\n", + " 'GARD:18285', 'GARD:18304', 'GARD:18384', 'GARD:18385', 'GARD:18472',\n", + " 'GARD:18477', 'GARD:18479', 'GARD:18485', 'GARD:18486', 'GARD:18512',\n", + " 'GARD:18550', 'GARD:18575', 'GARD:18577', 'GARD:18578', 'GARD:18579',\n", + " 'GARD:18580', 'GARD:18581', 'GARD:18582', 'GARD:18594', 'GARD:18595',\n", + " 'GARD:18596', 'GARD:18608', 'GARD:18609', 'GARD:18613', 'GARD:20322',\n", + " 'GARD:21425', 'GARD:2162', 'GARD:21865', 'GARD:22318', 'GARD:22319',\n", + " 'GARD:2456', 'GARD:3363', 'GARD:3364', 'GARD:3365', 'GARD:3366',\n", + " 'GARD:3367', 'GARD:3368', 'GARD:9185'\n", + "]\n", + "Excluding_list = ['GARD:{:07d}'.format(int(gard_id.split(':')[1])) for gard_id in Excluding_list]\n", + "Gard['GardId'] = Gard['GardId'].str.strip('\"')\n", + "Gard = Gard[~Gard['GardId'].isin(Excluding_list)]" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "W512PV1TzUBG", + "outputId": "9f88a369-3030-4bb6-c218-d8f92419030f" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stderr", + "text": [ + "[nltk_data] Downloading package stopwords to /root/nltk_data...\n", + "[nltk_data] Unzipping corpora/stopwords.zip.\n", + "[nltk_data] Downloading package punkt to /root/nltk_data...\n", + "[nltk_data] Unzipping tokenizers/punkt.zip.\n", + "[nltk_data] Downloading package punkt to /root/nltk_data...\n", + "[nltk_data] Package punkt is already up-to-date!\n" + ] + } + ] + }, + { + "cell_type": "markdown", + "source": [ + "### 1. Install and import the required packages[link text](https://)" + ], + "metadata": { + "id": "MP6RI22hzJZj" + } + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "4Px8aik4VaOY", + "colab": { + "base_uri": "https://localhost:8080/" + }, + "outputId": "365a98d0-f5a7-4b7b-a9e1-bb7d0b556448" + }, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "Requirement already satisfied: transformers in /usr/local/lib/python3.10/dist-packages (4.40.0)\n", + "Collecting sentence-transformers\n", + " Downloading sentence_transformers-2.7.0-py3-none-any.whl (171 kB)\n", + "\u001b[2K \u001b[90m━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━\u001b[0m \u001b[32m171.5/171.5 kB\u001b[0m \u001b[31m3.8 MB/s\u001b[0m eta \u001b[36m0:00:00\u001b[0m\n", + "\u001b[?25hCollecting datasets\n", + " Downloading datasets-2.19.0-py3-none-any.whl (542 kB)\n", + "\u001b[2K \u001b[90m━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━\u001b[0m \u001b[32m542.0/542.0 kB\u001b[0m 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nvidia-cuda-nvrtc-cu12-12.1.105 nvidia-cuda-runtime-cu12-12.1.105 nvidia-cudnn-cu12-8.9.2.26 nvidia-cufft-cu12-11.0.2.54 nvidia-curand-cu12-10.3.2.106 nvidia-cusolver-cu12-11.4.5.107 nvidia-cusparse-cu12-12.1.0.106 nvidia-nccl-cu12-2.19.3 nvidia-nvjitlink-cu12-12.4.127 nvidia-nvtx-cu12-12.1.105 sentence-transformers-2.7.0 xxhash-3.4.1\n" + ] + } + ], + "source": [ + "!pip install transformers sentence-transformers datasets" + ] + }, + { + "cell_type": "code", + "source": [ + "from datasets import load_dataset\n", + "from sentence_transformers import SentenceTransformer, models\n", + "from transformers import BertTokenizer\n", + "from transformers import get_linear_schedule_with_warmup\n", + "import torch\n", + "from torch.optim import AdamW\n", + "from torch.utils.data import DataLoader\n", + "from tqdm import tqdm\n", + "import time\n", + "import datetime\n", + "import random\n", + "import numpy as np\n", + "import pandas as pd" + ], + "metadata": { + "id": "RUsTXFi1bNRI" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "markdown", + "source": [ + "### 2. Use Google Colab's GPU for training" + ], + "metadata": { + "id": "zMdAdDQbzWmC" + } + }, + { + "cell_type": "code", + "source": [ + "if torch.cuda.is_available():\n", + " device = torch.device(\"cuda\")\n", + " print(f'There are {torch.cuda.device_count()} GPU(s) available.')\n", + " print('We will use the GPU:', torch.cuda.get_device_name(0))\n", + "else:\n", + " print('No GPU available, using the CPU instead.')\n", + " device = torch.device(\"cpu\")" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "wB7TNNSrziMu", + "outputId": "1ab1d0cf-e114-4242-a06b-042bcd5edf9c" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "There are 1 GPU(s) available.\n", + "We will use the GPU: Tesla V100-SXM2-16GB\n" + ] + } + ] + }, + { + "cell_type": "markdown", + "source": [ + "https://huggingface.co/docs/datasets/index\n", + "\n", + "https://huggingface.co/datasets\n", + "\n", + "https://livingdatalab.com/posts/2023-04-02-fine-tuning-a-pretrained-model-with-hugging-face.html\n", + "\n", + "https://huggingface.co/datasets/EMBO/BLURB#:~:text=BC5%2Ddisease,support%20text%2Dmining%20method%20development.\n", + "\n", + "https://huggingface.co/datasets/qanastek/Biosses-BLUE" + ], + "metadata": { + "id": "N-QY5QDuEIc7" + } + }, + { + "cell_type": "markdown", + "source": [ + "### **3.** Load and preview the Semantic Textual Similarity Benchmark (STSB) dataset" + ], + "metadata": { + "id": "kQ1Eel-3W-5b" + } + }, + { + "cell_type": "code", + "source": [ + "# Load the English version of the STSB dataset\n", + "dataset = load_dataset(\"stsb_multi_mt\", \"en\") #8,628 examples\n", + "#raw_datasets = load_dataset(\"glue\", \"mrpc\") #5,801\n", + "raw_datasets = load_dataset(\"qanastek/Biosses-BLUE\") #the Biomedical Semantic Similarity Estimation System (BIOSSES) #100 annotated examples in total" + ], + "metadata": { + "id": "mgwlDDjtWM71", + "colab": { + "base_uri": 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(https://huggingface.co/settings/tokens), set it as secret in your Google Colab and restart your session.\n", + "You will be able to reuse this secret in all of your notebooks.\n", + "Please note that authentication is recommended but still optional to access public models or datasets.\n", + " warnings.warn(\n" + ] + }, + { + "output_type": "display_data", + "data": { + "text/plain": [ + "Downloading readme: 0%| | 0.00/11.4k [00:00\n", + "
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abstract_textGardNamePart of the abstract that include the GARD nameEvaluationEvaluation_scorephr_textproject_title
0The majority of patients afflicted with a T-ce...lymphomathe majority of patients afflicted with a t.ce...tru4.7PROJECT NARRATIVE (from the parent grant appli...THE T-CELL RECEPTOR'S ROLE IN T-CELL LYMPHOMA ...
1PROJECT SUMMARY\\n The Nadell lab studies the s...choleraproject summary\\n the nadell lab studies the s...fals0.5PROJECT NARRATIVE\\nAcute and chronic bacterial...Bacterial and Viral Predator-Prey Dynamics wit...
2PROJECT SUMMARY\\nVirus-associated lymphomas ca...non-hodgkin lymphomanarrative / public health statement\\nnon.hodgk...tru4.7NARRATIVE / PUBLIC HEALTH STATEMENT\\nNon-Hodgk...Exposing synthetic lethal vulnerabilities in E...
3PROJECT SUMMARY\\nDespite the availability of e...amyotrophic lateral sclerosisas a result, non.canonical dna conformations h...F0.5PROJECT NARRATIVE\\nNon-canonical DNA conformat...Non-B DNA and Genome Evolution
4Abstract/Summary\\nIn vitro neural crest-like c...hirschsprung diseasethis proposal describes an ambitious project d...tru4.7Narrative\\nSpatial patterning within the embry...Molecular and cellular pathways driving compet...
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To address this, our proposal builds upon ongoing collaborations\\nbetween a clinical nephrology group at MUSC with an extensive LN biorepository of control and treatment\\nsamples with clinical metadata and GlycoPath Inc., a diagnostic company developing unique\\nglycosylation targeted liquid biopsy assays. GlycoPath has recently patented, licensed and published a\\nstreamlined antibody capture slide array approach, GlycoTyper, to directly profile N-glycans of captured\\nserum and plasma glycoproteins including imm unoglobulin G (IgG) subtypes. An adaption of the\\nGlycoTyper platform has also been developed to rapidly obtain total glycan profiles of biofluids like serum\\nand urine. Using this approach, several cohorts of patient matched serum and urine from control and LN\\nsubjects have been evaluated for N-linked glycan constituents. A distinct panel of LN associated N-\\nglycans have already been identified and serve as the basis for the proposed studies. Because we can\\nuse glycan panels to distinguish control from LN conditions, we hypothesize that this assay can be\\napplied to monitor treatment response in biofluids from subjects treated with standard-of-care therapies\\nlike mycophenolate mofetil (MMF). In this Phase I STTR application, we propose to establish the technical\\nmerit and feasibility of Glycotyper-LNTx for monitoring LN treatment responses. Aim 1 will validate N-glycan\\nprofiles in urine samples from LN subjects for MMF treatment response at time zero, 3 months and 12 months\\nof treatment. Aim 2 will identify IgG specific N-glycan profiles in patient matched serum and urine samples\\nwith follow up application in a LN treatment response cohort. This study will establish and validate a LN specific\\nliquid biopsy glycan biomarker assay for use in monitoring disease status and therapeutic response.\",\n \"Proposal Abstract\\n Various drugs are known to be teratogenic, causing miscarriages or birth defects, when used during\\npregnancy. However, teratogenicity is unclear for many other drugs, particularly those that were recently\\nmarketed. Because of the ongoing COVID-19 pandemic/endemic, many investigators are developing new\\nantiviral drugs against SARS-CoV-2. Currently, three antivirals are approved or granted the emergency use\\nauthorization by the FDA, namely remdesivir, molnupiravir, and Paxlovid. Yet studies on their teratogenicity are\\nscarce. As COVID-19 still persists with the emergence of immune escape variants, many people, including\\nthose of childbearing potential, may require antiviral treatment. For physicians to provide proper advice for\\ntheir patients, the teratogenicity of the antivirals should be studied sufficiently. Previously, we invented the\\nmouse and human stem cell-based 3D morphogenesis models, which recapitulate the key features of early\\nembryogenesis in vitro and can serve as effective tools to sensitively and specifically detect various teratogenic\\nchemicals. Our Preliminary Studies using these morphogenesis models suggest that the anti-COVID-19\\ndrugs, particularly remdesivir and molnupiravir, impair embryogenesis at the concentrations close to their\\ntherapeutic plasma levels in human. These observations necessitate further investigations into the teratogenic\\npotential of the antivirals, as proposed in this application. Specifically, we will (1) characterize the molecular\\nimpact of the new antivirals on the morphogenesis models, (2) explore the possible teratogenic mechanisms of\\nthe new antivirals, and (3) examine the teratogenic effects of the new antivirals with the mouse whole embryo\\nculture. The proposed experiments should yield valuable information pertinent to their teratogenic potential,\\nsuch as the concentration-effect relationship and molecular mechanisms of actions, and help in the design and\\ninterpretation of animal- and human-based studies in an effective manner.\",\n \"SUMMARY\\nEsophageal adenocarcinoma (EAC) is the most prevalent histological type of esophageal malignancy in the US\\nand many Western nations. This tumor remains deadly as approximately 80% of patients are diagnosed at\\nadvanced stages and have a low five-year survival rate. Gastroesophageal reflux disease (GERD) is one of the\\nstrongest risk factors for EAC. In GERD patients, the epithelial lining of the esophagus is exposed to the\\ngastroesophageal reflux (GER) that contains gastric acid frequently mixed with duodenal bile. The esophageal\\nepithelial cells undergoes severe damage from exposure to acid and bile salts. This exposure also promotes\\ninflammation, which can exacerbate tissue damage and lead to the development of Barrett's esophagus (BE).\\nBE is a preneoplastic condition that is disposed to malignant transformation. The molecular mechanisms of\\nesophageal tumorigenesis in conditions of esophageal reflux injury remain poorly understood. We have\\ndeveloped an innovative hypothesis to investigate how isolevuglandin (isoLG) lipid derivatives that adduct\\nmultiple proteins in conditions of esophageal reflux facilitate tumorigenic processes by protein adduction. IsoLGs\\nare formed from the free radicals induced peroxidation of lipids and cyclooxygenase (COX) and are highly\\nreactive for lysine as well as other cellular amines. IsoLGs bind covalently with the protein molecules to inflict\\ndamage before being recognized by cellular defense mechanisms. In our experimental conditions of esophageal\\nreflux, p63 is found to be one of the most adducted proteins by isoLGs. P63 is a master regulator of esophageal\\nepithelial development, which also regulate a broad spectrum of genes involved in different cellular processes\\nsuch as DNA repair, stemness, proliferation and differentiation. Our preliminary data strongly support the\\nhypothesis by providing evidence of the alteration of p63 protein by adduction. In aim 1, using in vitro cell\\nsystems, this proposal will examine the unique mechanisms regulating p63 signaling pathway by protein\\nadduction and its biological impact in conditions of esophageal reflux injury. In aim 2, we will study the p63\\nprotein adduction in in vivo mice model and test various pharmacological options to reverse this process. If\\nsuccessful, this study will provide a new therapeutic approach to prevent the pro-tumorigenic alterations of\\nesophageal cancer.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"GardName\",\n \"properties\": {\n \"dtype\": \"category\",\n \"num_unique_values\": 439,\n \"samples\": [\n \"germ cell tumor\",\n \"infective endocarditis\",\n \"syndromic obesity\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Part of the abstract that include the GARD name\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 1644,\n \"samples\": [\n \"summary\\n the search for more effective treatment and prevention of tuberculosis has motivated the identification\\ngenes that are essential for the growth and survival of the causative agent, mycobacterium tuberculosis (mtb).\",\n \"these diseases include alzheimer\\u2019s disease, huntington\\u2019s disease,\\nparkinson\\u2019s disease and amyotrophic lateral sclerosis (als).\",\n \"narrative\\nmerkel cell polyomavirus (mcpyv) positive merkel cell carcinoma (mcc) is an ideal setting for identifying foreign\\nviral epitopes in diverse hla alleles that can be leveraged to develop targeted immunotherapies, including\\ncancer vaccines.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Evaluation \",\n \"properties\": {\n \"dtype\": \"category\",\n \"num_unique_values\": 4,\n \"samples\": [\n \"fals\",\n \"T\",\n \"tru\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Evaluation_score\",\n \"properties\": {\n \"dtype\": \"number\",\n \"std\": 1.9557994423267082,\n \"min\": 0.5,\n \"max\": 4.7,\n \"num_unique_values\": 2,\n \"samples\": [\n 0.5,\n 4.7\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"phr_text\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 1482,\n \"samples\": [\n \"Project Narrative\\nMajor depressive disorder (MDD) is a leading cause of disability and lost productivity. I have found that both the\\nnumber and the activity of newborn neurons in an area of the brain called the hippocampus are necessary for\\nthe effects of antidepressants. The goal of these studies is to understand the role of these newborn neurons in\\nMDD to enable the development of new and more effective antidepressants.\",\n \"PROJECT NARRATIVE\\nPatients diagnosed with Scleroderma (SSc), a disease resulting in the progressive scarring of the skin and lungs,\\nhave a significantly increased risk of lung cancer, or Cancerous Scleroderma (CSc). The main cell type that is\\nresponsible for this severe scarring promotes the development of lung cancer in SSc patients, hence this\\nresearch aims to uncover ways to target these pathogenic cells to resolve CSc. There is no currently established\\ntreatment to reverse scarring in any organ, therefore the impact of the novel insights gained from this research\\nwill be tremendous.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_title\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 1551,\n \"samples\": [\n \"Campylobacter jejuni restriction by the intestinal microbiota\",\n \"Novel Anti-CCR8 VHH for the Treatment of NSCLC\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n }\n ]\n}" + } + }, + "metadata": {}, + "execution_count": 10 + } + ] + }, + { + "cell_type": "code", + "source": [ + "import pandas as pd\n", + "\n", + "# Assuming Data_ is your DataFrame\n", + "# Filter out rows with missing SourceDescription\n", + "Data_ = help.dropna(subset=['SourceDescription'])\n", + "# Initialize an empty list to store the new rows\n", + "new_rows = []\n", + "n=0\n", + "# Iterate over each row in the DataFrame\n", + "for index, row in Data_.iterrows():\n", + " # Get the value of SourceDescription\n", + " source_description = row['SourceDescription']\n", + " # Get the values of SourceSynonym or SourceName\n", + " synonyms = row['SourceSynonym']\n", + " source_name = row['SourceName']\n", + " Omim_Member=row['OmimMember']\n", + "\n", + " # If SourceSynonym is not empty, use its values; otherwise, use SourceName\n", + " source_names = synonyms if synonyms else [source_name]\n", + " # Create a new row for each SourceSynonym or SourceName\n", + " if type(source_description) ==str:\n", + " new_row = {'sentence1': source_name, 'sentence2': source_description, 'similarity_score': 5}\n", + " new_rows.append(new_row)\n", + "\n", + " new_row = {'sentence1': source_description, 'sentence2': All_sentence[n % len(All_sentence) ], 'similarity_score': 0}\n", + " n+=1\n", + " new_rows.append(new_row)\n", + "\n", + " for name in synonyms:\n", + " new_row = {'sentence1': name, 'sentence2': source_description, 'similarity_score': 5}\n", + " new_rows.append(new_row)\n", + " new_row = {'sentence1': name, 'sentence2': source_name, 'similarity_score': 5}\n", + " new_rows.append(new_row)\n", + "\n", + " #Orphanet and Omim: similiar 5\n", + " if row['DataSource'] in ['Orphanet','GARD'] and len(Omim_Member)==1:\n", + " omim_des=omim_.get( int(Omim_Member[0]),'')\n", + " if source_description.lower() != omim_des.lower() and omim_des != '':\n", + " new_row = {'sentence1': source_description, 'sentence2': omim_des, 'similarity_score': 5}\n", + " new_rows.append(new_row)\n", + "#######################################################################################\n", + "\n", + "# ORPHAlinearisation: similiar 1\n", + "num_sample=30000\n", + "A=[[] for _ in range(len(linearisation_))]\n", + "n=0\n", + "for i in linearisation_:\n", + " for m in range(len(linearisation_[i])):\n", + " a= linearisation_[i][m].lower()\n", + " try:\n", + " A[n].append(list(Data_[Data_['SourceName'].str.lower() == a.lower()]['SourceDescription'].values)[0])\n", + " except: pass\n", + " n+=1\n", + "for _ in range(num_sample):\n", + " ran_number=random.sample(range(29), 2)\n", + " sen_A = A[ran_number[0]] [random.randint(0, len(A[ran_number[0]] )-1 )]\n", + " sen_B = A[ran_number[1]] [random.randint(0, len(A[ran_number[1]] )-1 )]\n", + " new_row = {'sentence1': sen_A, 'sentence2': sen_B, 'similarity_score': 0.5}\n", + " new_rows.append(new_row)\n", + "\n", + "##########################################################################################\n", + "for i in dataset['train']:\n", + " new_row = {'sentence1': i['sentence1'] , 'sentence2': i['sentence2'], 'similarity_score': i['similarity_score']}\n", + " new_rows.append(new_row)\n", + "for i in dataset['test']:\n", + " new_row = {'sentence1': i['sentence1'] , 'sentence2': i['sentence2'], 'similarity_score': i['similarity_score']}\n", + " new_rows.append(new_row)\n", + "for i in dataset['dev']:\n", + " new_row = {'sentence1': i['sentence1'] , 'sentence2': i['sentence2'], 'similarity_score': i['similarity_score']}\n", + " new_rows.append(new_row)\n", + "\n", + "\n", + "##################################### manual sample 2000 ###########################\n", + "for i in manual_smaple_info.index:\n", + " new_row = {'sentence1': manual_smaple_info['abstract_text'][i] , 'sentence2': manual_smaple_info['GardName'][i] , 'similarity_score': manual_smaple_info['Evaluation_score'][i]}\n", + " new_rows.append(new_row)\n", + "\n", + "\n", + "\n", + "#######################################################3\n", + "# Create a new DataFrame from the list of new rows\n", + "new_df = pd.DataFrame(new_rows)\n", + "# Optionally, you can reset the index of the new DataFrame\n", + "new_df.reset_index(drop=True, inplace=True)\n", + "\n", + "# Display the new DataFrame\n", + "shuffled_data = new_df.sample(frac=1).reset_index(drop=True)\n", + "###############################################################\n", + "shuffled_data = shuffled_data.drop_duplicates()\n", + "shuffled_data.shape[0]" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "OoAtL4nMzv41", + "outputId": "1d337a95-b22a-42c9-d0c9-017d5ae25941" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "execute_result", + "data": { + "text/plain": [ + "85048" + ] + }, + "metadata": {}, + "execution_count": 11 + } + ] + }, + { + "cell_type": "code", + "source": [ + "from datasets import DatasetDict, Dataset\n", + "\n", + "# Assuming 'shuffled_data' is your shuffled DataFrame\n", + "train_size = int(len(shuffled_data) * 0.67 ) # 0.5749)\n", + "test_size = int(len(shuffled_data) * 0.16) #0.1379)\n", + "dev_size = int(len(shuffled_data) * 0.17) #0.1500)\n", + "\n", + "# Split the shuffled DataFrame into train, test, and dev sets\n", + "train_data = shuffled_data[:train_size]\n", + "test_data = shuffled_data[train_size:train_size+test_size]\n", + "dev_data = shuffled_data[train_size+test_size:]\n", + "\n", + "# Create DatasetDict\n", + "data_dict = DatasetDict({\n", + " 'train': Dataset.from_pandas(train_data),\n", + " 'test': Dataset.from_pandas(test_data),\n", + " 'dev': Dataset.from_pandas(dev_data)\n", + "})\n", + "\n", + "# Display information about the dataset\n", + "print(data_dict)\n", + "dataset=data_dict" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "aL5_SrFk0Oa6", + "outputId": "afd2bd5a-1995-4f13-c8c6-fc43cb54c2d2" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "DatasetDict({\n", + " train: Dataset({\n", + " features: ['sentence1', 'sentence2', 'similarity_score', '__index_level_0__'],\n", + " num_rows: 56982\n", + " })\n", + " test: Dataset({\n", + " features: ['sentence1', 'sentence2', 'similarity_score', '__index_level_0__'],\n", + " num_rows: 13607\n", + " })\n", + " dev: Dataset({\n", + " features: ['sentence1', 'sentence2', 'similarity_score', '__index_level_0__'],\n", + " num_rows: 14459\n", + " })\n", + "})\n" + ] + } + ] + }, + { + "cell_type": "markdown", + "source": [ + "### **4.** Define the dataset loader class\n" + ], + "metadata": { + "id": "OjMKsIuxYv6D" + } + }, + { + "cell_type": "code", + "source": [ + "from transformers import AutoTokenizer, AutoModel\n", + "from transformers import BertTokenizer, RobertaTokenizer, RobertaModel\n", + "\n", + "# Instantiate the BERT tokenizer\n", + "# You can use larger variants of the model, here we're using the base model\n", + "#tokenizer = BertTokenizer.from_pretrained('bert-base-uncased')\n", + "#tokenizer = AutoTokenizer.from_pretrained('bionlp/bluebert_pubmed_mimic_uncased_L-24_H-1024_A-16')\n", + "#tokenizer = AutoTokenizer.from_pretrained(\"dmis-lab/biobert-v1.1\")\n", + "#tokenizer = AutoTokenizer.from_pretrained(\"FacebookAI/roberta-large\")\n", + "#tokenizer = AutoTokenizer.from_pretrained(\"emilyalsentzer/Bio_ClinicalBERT\")\n", + "tokenizer = AutoTokenizer.from_pretrained('microsoft/BiomedNLP-PubMedBERT-base-uncased-abstract-fulltext')\n", + "#tokenizer = AutoTokenizer.from_pretrained('NeuML/pubmedbert-base-embeddings')\n", + "#tokenizer = AutoTokenizer.from_pretrained('FremyCompany/BioLORD-2023')\n", + "'''\n", + " \"bionlp/bluebert_pubmed_mimic_uncased_L-24_H-1024_A-16\",\n", + " \"allenai/biomed_roberta_base\",\n", + " \"dmis-lab/biobert-v1.1\",\n", + " \"emilyalsentzer/Bio_ClinicalBERT\",\n", + " \"microsoft/BiomedNLP-PubMedBERT-base-uncased-abstract-fulltext\"\n", + "PubMedBERT-large\n", + "PubMedELECTRA models\n", + "'''" + ], + "metadata": { + "id": "f2Hc2uwabgJa", + "colab": { + "base_uri": "https://localhost:8080/", + "height": 168, + "referenced_widgets": [ + "207b949bb28b437ea5b4f3b8cc9e4494", + "a7b427fd0ba84843ac7074ace5cb05d5", + "9681a2bc48aa44c09e0d507658dfa033", + "fcca7c9fb57c4787930afad40c21a8f5", + "13f87325978640e4bd1caf886482179c", + "bdd9de0a6439412eb27a69cba127385a", + "3c21bc846b284b8e8efd74161b396cfb", + "a41e18348a51447597cffb0670401f27", + "d66b718fbb6b4b93836e647264ea7694", + "75c8dbd28c384ee7a423274b0b4eece5", + "5da86e733207466bbc412bbb14288e7f", + "afabdff7c5504e1e90d2ee8a14e7684d", + "b29acde367ec47e79da4164083afd4bf", + "43ea8d2c7a02461c97d249ad5a0aefa2", + "39ae9bec82fd48a58cad081af834fbca", + "a55e7ac8a4c24417a4faa5e92e0c173b", + "ba41987c2f5c4de0adc2371ebe279b1d", + "bfb9690cd8834d40929959fb760884e4", + "76f17bc73d6247f7a516bac82ebc18e3", + "6ced0474e1594106b7f841eb4cb15d16", + "b94785edfd8f4f1d8bf4f6e73805fe71", + "3e661b438e714c66840872d598bc0734", + "125ec1572a524ebaabb61dcdd2e6304f", + "a4f2020482cd4a9ca169c73894319d95", + "6cd26015596f44d2ae4d44a5d15a514c", + "be530f96d9ef49e480859363532a1b43", + "4e72716f521c45adbb649f9f88adea03", + "2efdba64498d4db69c8ef834abda2ea6", + "2c27aeb582754b24ac94b52652ed1c43", + "8806a91a1fda48038471bab2e1c0408f", + "5318256b24e7428c886000835d83a0d0", + "f31a15f1b5b647f0b8ed39f39eaf0c97", + "148f553b25ab403a818886be68fc1cb3" + ] + }, + "outputId": "9e96c365-f6de-4bb8-cedf-1d1db2305ea9" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "display_data", + "data": { + "text/plain": [ + "tokenizer_config.json: 0%| | 0.00/28.0 [00:005,} training samples'.format(train_size))\n", + "print('{:>5,} validation samples'.format(val_size))" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "PrQvEJgC4VeB", + "outputId": "cccf7927-2836-43de-d44b-69a216657e58" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "56,982 training samples\n", + "14,459 validation samples\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [ + "batch_size = 8\n", + "\n", + "train_dataloader = DataLoader(\n", + " train_ds, # The training samples.\n", + " num_workers = 4,\n", + " batch_size = batch_size, # Use this batch size.\n", + " shuffle=True # Select samples randomly for each batch\n", + " )\n", + "\n", + "validation_dataloader = DataLoader(\n", + " val_ds,\n", + " num_workers = 4,\n", + " batch_size = batch_size # Use the same batch size\n", + " )" + ], + "metadata": { + "id": "eUPorlzExygm" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "markdown", + "source": [ + "### 8. Define the Optimizer and Scheduler" + ], + "metadata": { + "id": "5avkJtGn2-al" + } + }, + { + "cell_type": "code", + "source": [ + "optimizer = AdamW(model.parameters(),\n", + " lr = 1e-5)" + ], + "metadata": { + "id": "lB_HcVbl3EZw" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "epochs = 2\n", + "\n", + "# Total number of training steps is [number of batches] x [number of epochs].\n", + "total_steps = len(train_dataloader) * epochs\n", + "\n", + "scheduler = get_linear_schedule_with_warmup(optimizer,\n", + " num_warmup_steps = 0,\n", + " num_training_steps = total_steps)" + ], + "metadata": { + "id": "RVT3cA_-3NPP" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "markdown", + "source": [ + "### 9. Define a helper function for formatting the elapsed training time as `hh:mm:ss`" + ], + "metadata": { + "id": "zyIxF_7J3ep5" + } + }, + { + "cell_type": "code", + "source": [ + "# Takes a time in seconds and returns a string hh:mm:ss\n", + "def format_time(elapsed):\n", + " # Round to the nearest second.\n", + " elapsed_rounded = int(round((elapsed)))\n", + "\n", + " # Format as hh:mm:ss\n", + " return str(datetime.timedelta(seconds=elapsed_rounded))" + ], + "metadata": { + "id": "JH7_0ASp3oDW" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "markdown", + "source": [ + "### 10. Define the training function, and start the training loop" + ], + "metadata": { + "id": "jJFhpUJp92Qe" + } + }, + { + "cell_type": "code", + "source": [ + "def train():\n", + " seed_val = 42\n", + "\n", + " criterion = CosineSimilarityLoss()\n", + " criterion = criterion.to(device)\n", + "\n", + " random.seed(seed_val)\n", + " torch.manual_seed(seed_val)\n", + "\n", + " # We'll store a number of quantities such as training and validation loss,\n", + " # validation accuracy, and timings.\n", + " training_stats = []\n", + " total_t0 = time.time()\n", + "\n", + " for epoch_i in range(0, epochs):\n", + "\n", + " # ========================================\n", + " # Training\n", + " # ========================================\n", + "\n", + " print(\"\")\n", + " print('======== Epoch {:} / {:} ========'.format(epoch_i + 1, epochs))\n", + " print('Training...')\n", + "\n", + " t0 = time.time()\n", + "\n", + " total_train_loss = 0\n", + "\n", + " model.train()\n", + "\n", + " # For each batch of training data...\n", + " for train_data, train_label in tqdm(train_dataloader):\n", + "\n", + " train_data['input_ids'] = train_data['input_ids'].to(device)\n", + " train_data['attention_mask'] = train_data['attention_mask'].to(device)\n", + "\n", + " train_data = collate_fn(train_data)\n", + " model.zero_grad()\n", + "\n", + " output = [model(feature) for feature in train_data]\n", + "\n", + " loss = criterion(output, train_label.to(device))\n", + " total_train_loss += loss.item()\n", + "\n", + " loss.backward()\n", + " torch.nn.utils.clip_grad_norm_(model.parameters(), 1.0)\n", + " optimizer.step()\n", + " scheduler.step()\n", + "\n", + "\n", + " # Calculate the average loss over all of the batches.\n", + " avg_train_loss = total_train_loss / len(train_dataloader)\n", + "\n", + " # Measure how long this epoch took.\n", + " training_time = format_time(time.time() - t0)\n", + "\n", + " print(\"\")\n", + " print(\" Average training loss: {0:.5f}\".format(avg_train_loss))\n", + " print(\" Training epoch took: {:}\".format(training_time))\n", + "\n", + " # ========================================\n", + " # Validation\n", + " # ========================================\n", + "\n", + " print(\"\")\n", + " print(\"Running Validation...\")\n", + "\n", + " t0 = time.time()\n", + "\n", + " model.eval()\n", + "\n", + " total_eval_accuracy = 0\n", + " total_eval_loss = 0\n", + " nb_eval_steps = 0\n", + "\n", + " # Evaluate data for one epoch\n", + " for val_data, val_label in tqdm(validation_dataloader):\n", + "\n", + " val_data['input_ids'] = val_data['input_ids'].to(device)\n", + " val_data['attention_mask'] = val_data['attention_mask'].to(device)\n", + "\n", + " val_data = collate_fn(val_data)\n", + "\n", + " with torch.no_grad():\n", + " output = [model(feature) for feature in val_data]\n", + "\n", + " loss = criterion(output, val_label.to(device))\n", + " total_eval_loss += loss.item()\n", + "\n", + " # Calculate the average loss over all of the batches.\n", + " avg_val_loss = total_eval_loss / len(validation_dataloader)\n", + "\n", + " # Measure how long the validation run took.\n", + " validation_time = format_time(time.time() - t0)\n", + "\n", + " print(\" Validation Loss: {0:.5f}\".format(avg_val_loss))\n", + " print(\" Validation took: {:}\".format(validation_time))\n", + "\n", + " # Record all statistics from this epoch.\n", + " training_stats.append(\n", + " {\n", + " 'epoch': epoch_i + 1,\n", + " 'Training Loss': avg_train_loss,\n", + " 'Valid. Loss': avg_val_loss,\n", + " 'Training Time': training_time,\n", + " 'Validation Time': validation_time\n", + " }\n", + " )\n", + "\n", + " print(\"\")\n", + " print(\"Training complete!\")\n", + "\n", + " print(\"Total training took {:} (h:mm:ss)\".format(format_time(time.time()-total_t0)))\n", + "\n", + " return model, training_stats" + ], + "metadata": { + "id": "vdeUXU915NE5" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "# Launch the training\n", + "model, training_stats = train()" + ], + "metadata": { + "id": "CoWW_TnZgSRf", + "colab": { + "base_uri": "https://localhost:8080/" + }, + "outputId": "8723c6c6-a86a-471f-907c-62e64258c8cd" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "\n", + "======== Epoch 1 / 2 ========\n", + "Training...\n" + ] + }, + { + "output_type": "stream", + "name": "stderr", + "text": [ + "\r 0%| | 0/7123 [00:00\n", + "
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Training LossValid. LossTraining TimeValidation Time
epoch
10.0327140.0233061:03:470:05:17
20.0202880.0215901:03:540:05:19
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\n", + " \n" + ], + "application/vnd.google.colaboratory.intrinsic+json": { + "type": "dataframe", + "variable_name": "df_stats", + "summary": "{\n \"name\": \"df_stats\",\n \"rows\": 2,\n \"fields\": [\n {\n \"column\": \"epoch\",\n \"properties\": {\n \"dtype\": \"number\",\n \"std\": 0,\n \"min\": 1,\n \"max\": 2,\n \"num_unique_values\": 2,\n \"samples\": [\n 2,\n 1\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Training Loss\",\n \"properties\": {\n \"dtype\": \"number\",\n \"std\": 0.008786052730482274,\n \"min\": 0.020288187157981207,\n \"max\": 0.032713542089154404,\n \"num_unique_values\": 2,\n \"samples\": [\n 0.020288187157981207,\n 0.032713542089154404\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Valid. Loss\",\n \"properties\": {\n \"dtype\": \"number\",\n \"std\": 0.0012137085718200652,\n \"min\": 0.021590040357303997,\n \"max\": 0.023306483480340413,\n \"num_unique_values\": 2,\n \"samples\": [\n 0.021590040357303997,\n 0.023306483480340413\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Training Time\",\n \"properties\": {\n \"dtype\": \"object\",\n \"num_unique_values\": 2,\n \"samples\": [\n \"1:03:54\",\n \"1:03:47\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Validation Time\",\n \"properties\": {\n \"dtype\": \"object\",\n \"num_unique_values\": 2,\n \"samples\": [\n \"0:05:19\",\n \"0:05:17\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n }\n ]\n}" + } + }, + "metadata": {}, + "execution_count": 25 + } + ] + }, + { + "cell_type": "code", + "source": [ + "test_dataset = load_dataset(\"stsb_multi_mt\", name=\"en\", split=\"test\")\n", + "\n", + "# Prepare the data\n", + "first_sent = [i['sentence1'] for i in test_dataset]\n", + "second_sent = [i['sentence2'] for i in test_dataset]\n", + "full_text = [[str(x), str(y)] for x,y in zip(first_sent, second_sent)]" + ], + "metadata": { + "id": "X7ahIyP4zsXp" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "model.eval()\n", + "\n", + "def predict_similarity(sentence_pair):\n", + " test_input = tokenizer(sentence_pair, padding=True, truncation=False, return_tensors=\"pt\").to(device) # max_length = 512,\n", + " test_input['input_ids'] = test_input['input_ids']\n", + " test_input['attention_mask'] = test_input['attention_mask']\n", + " del test_input['token_type_ids']\n", + " output = model(test_input)\n", + " sim = torch.nn.functional.cosine_similarity(output[0], output[1], dim=0).item()\n", + " return sim" + ], + "metadata": { + "id": "wD7oPneMkUhe" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "example_1 = full_text[100]\n", + "print(f\"Sentence 1: {example_1[0]}\")\n", + "print(f\"Sentence 2: {example_1[1]}\")\n", + "print(f\"Predicted similarity score: {round(predict_similarity(example_1), 2)}\")" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "e-lGkcofz6hS", + "outputId": "d31a9fdf-690c-4e70-e9c7-9564c1b2e97e" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "Sentence 1: A cat is walking around a house.\n", + "Sentence 2: A woman is peeling potato.\n", + "Predicted similarity score: -0.07\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [ + "full_text.append(\n", + "[ 'polymyositis',\n", + " '''\n", + " A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.\n", + " '''\n", + "])\n", + "example_1 = full_text[-1]\n", + "print(f\"Sentence 1: {example_1[0]}\")\n", + "print(f\"Sentence 2: {example_1[1]}\")\n", + "print(f\"Predicted similarity score: {round(predict_similarity(example_1), 2)}\")" + ], + "metadata": { + "id": "2t3spmj1NLth", + "outputId": "889178c9-0a53-4092-8331-1f96babb6493", + "colab": { + "base_uri": "https://localhost:8080/" + } + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "Sentence 1: polymyositis\n", + "Sentence 2: \n", + " A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.\n", + " \n", + "Predicted similarity score: 0.84\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [ + "example_2 = full_text[130]\n", + "print(f\"Sentence 1: {example_2[0]}\")\n", + "print(f\"Sentence 2: {example_2[1]}\")\n", + "print(f\"Predicted similarity score: {round(predict_similarity(example_2), 2)}\")" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "ViwfU0M2DOgh", + "outputId": "ba668bb7-b4f8-4583-8017-a79bc0aaafca" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "Sentence 1: Two men are playing football.\n", + "Sentence 2: Two men are practicing football.\n", + "Predicted similarity score: 0.96\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [ + "example_3 = full_text[812]\n", + "print(f\"Sentence 1: {example_3[0]}\")\n", + "print(f\"Sentence 2: {example_3[1]}\")\n", + "print(f\"Predicted similarity score: {round(predict_similarity(example_3), 2)}\")" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "sGn-H7ARDnBG", + "outputId": "a3cf33e1-0a7c-4703-ce12-fdfe284b8fb1" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "Sentence 1: It varies by the situation.\n", + "Sentence 2: This varies by institution.\n", + "Predicted similarity score: 0.44\n" + ] + } + ] + }, + { + "cell_type": "markdown", + "source": [ + "### Saving the model!" + ], + "metadata": { + "id": "_XovRH0VkXXs" + } + }, + { + "cell_type": "code", + "source": [ + "PATH = 'bert_finetunned_grant.pt'\n", + "torch.save(model.state_dict(), PATH)" + ], + "metadata": { + "id": "UjMTptZVjqvq" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "from google.colab import drive\n", + "# Mount Google Drive\n", + "drive.mount('/content/drive')\n", + "# Save the model\n", + "PATH = '/content/drive/My Drive/Finetunned_Bert_2.pt'\n", + "torch.save(model.state_dict(), PATH)" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "yT5YXKhEisoA", + "outputId": "5a7ac91a-2f01-40e7-9a2d-497a765220ce" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "Mounted at /content/drive\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [ + "from google.colab import drive\n", + "# Mount Google Drive\n", + "drive.mount('/content/drive')\n", + "# Save the model\n", + "PATH = '/content/drive/My Drive/Finetunned_Bert_2.pt'\n", + "# In order to load the model\n", + "# First, you have to create an instance of the model's class\n", + "# And use the saving path for the loading\n", + "# Don't forget to set the model to the evaluation state using .eval()\n", + "model = BertForSTS()\n", + "model.load_state_dict(torch.load(PATH))\n", + "model.eval()\n", + "\n", + "print(\"##########################################################################################\")\n", + "example_1=[ 'A cat is walking around a house.', 'A woman is peeling potato']\n", + "print(f\"Sentence 1: {example_1[0]}\")\n", + "print(f\"Sentence 2: {example_1[1]}\")\n", + "print(f\"Predicted similarity score: {round(predict_similarity(example_1), 2)}\")\n", + "\n", + "print(\"##########################################################################################\")\n", + "example_1=[ 'arterial thoracic outlet syndrome',\n", + " '''\n", + " The objective of this project is to study the contribution of hemorrheology to arterial and venous thrombosis using the arterio-venous (A-V)\n", + " ''']\n", + "print(f\"Sentence 1: {example_1[0]}\")\n", + "print(f\"Sentence 2: {example_1[1]}\")\n", + "print(f\"Predicted similarity score: {round(predict_similarity(example_1), 2)}\")\n", + "\n", + "\n", + "print(\"##########################################################################################\")\n", + "example_1=['antisynthetase syndrome',\n", + " '''\n", + " A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.\n", + "''']\n", + "print(f\"Sentence 1: {example_1[0]}\")\n", + "print(f\"Sentence 2: {example_1[1]}\")\n", + "print(f\"Predicted similarity score: {round(predict_similarity(example_1), 2)}\")\n", + "\n", + "print(\"##########################################################################################\")\n", + "##(one of its synonym is childhood cancer)\n", + "example_1=['mismatch repair cancer syndrome 1 '\n", + ",\n", + "'''\n", + "childhood cancer''']\n", + "\n", + "print(f\"Sentence 1: {example_1[0]}\")\n", + "print(f\"Sentence 2: {example_1[1]}\")\n", + "print(f\"Predicted similarity score: {round(predict_similarity(example_1), 2)}\")\n", + "\n", + "print(\"##########################################################################################\")\n", + "example_1=[ 'polymyositis',\n", + " '''\n", + " A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.\n", + " '''\n", + "]\n", + "print(f\"Sentence 1: {example_1[0]}\")\n", + "print(f\"Sentence 2: {example_1[1]}\")\n", + "print(f\"Predicted similarity score: {round(predict_similarity(example_1), 2)}\")\n" + ], + "metadata": { + "id": "Om3wskAQkaJP", + "colab": { + "base_uri": "https://localhost:8080/" + }, + "outputId": "903dec8d-9868-4e3f-fd11-b913810b49af" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "Drive already mounted at /content/drive; to attempt to forcibly remount, call drive.mount(\"/content/drive\", force_remount=True).\n", + "##########################################################################################\n", + "Sentence 1: A cat is walking around a house.\n", + "Sentence 2: A woman is peeling potato\n", + "Predicted similarity score: -0.09\n", + "##########################################################################################\n", + "Sentence 1: arterial thoracic outlet syndrome\n", + "Sentence 2: \n", + " The objective of this project is to study the contribution of hemorrheology to arterial and venous thrombosis using the arterio-venous (A-V)\n", + " \n", + "Predicted similarity score: 0.35\n", + "##########################################################################################\n", + "Sentence 1: antisynthetase syndrome\n", + "Sentence 2: \n", + " A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.\n", + "\n", + "Predicted similarity score: 0.45\n", + "##########################################################################################\n", + "Sentence 1: mismatch repair cancer syndrome 1 \n", + "Sentence 2: \n", + "childhood cancer\n", + "Predicted similarity score: 0.84\n", + "##########################################################################################\n", + "Sentence 1: polymyositis\n", + "Sentence 2: \n", + " A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.\n", + " \n", + "Predicted similarity score: 0.84\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "u6oXt9o63HXi", + "outputId": "cdd9426f-b137-4e00-eeaf-159d07d1f4e5" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "Sentence 1: A cat is walking around a house.\n", + "Sentence 2: A woman is peeling potato\n", + "Predicted similarity score: -0.07\n", + "Sentence 1: polymyositis\n", + "Sentence 2: \n", + " A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.\n", + " \n", + "Predicted similarity score: 0.95\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [ + "model = BertForSTS()\n", + "model.load_state_dict(torch.load('/content/bert_finetunned_grant.pt'))\n", + "model.eval()" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "JpyjiWdkjfBb", + "outputId": "02e1ee0c-d107-4fc5-e25a-542104d08872" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "execute_result", + "data": { + "text/plain": [ + "BertForSTS(\n", + " (bert): Transformer({'max_seq_length': 512, 'do_lower_case': False}) with Transformer model: BertModel \n", + " (pooling_layer): Pooling({'word_embedding_dimension': 768, 'pooling_mode_cls_token': False, 'pooling_mode_mean_tokens': True, 'pooling_mode_max_tokens': False, 'pooling_mode_mean_sqrt_len_tokens': False, 'pooling_mode_weightedmean_tokens': False, 'pooling_mode_lasttoken': False, 'include_prompt': True})\n", + " (sts_bert): SentenceTransformer(\n", + " (0): Transformer({'max_seq_length': 512, 'do_lower_case': False}) with Transformer model: BertModel \n", + " (1): Pooling({'word_embedding_dimension': 768, 'pooling_mode_cls_token': False, 'pooling_mode_mean_tokens': True, 'pooling_mode_max_tokens': False, 'pooling_mode_mean_sqrt_len_tokens': False, 'pooling_mode_weightedmean_tokens': False, 'pooling_mode_lasttoken': False, 'include_prompt': True})\n", + " )\n", + ")" + ] + }, + "metadata": {}, + "execution_count": 54 + } + ] + }, + { + "cell_type": "markdown", + "source": [ + "# Sample 2000" + ], + "metadata": { + "id": "oaQS-w7RZktg" + } + }, + { + "cell_type": "code", + "source": [ + "help=pd.read_csv('/content/J_GARD_master.csv')\n", + "source_dict = {}\n", + "for index, row in help.iterrows():\n", + " source_name = row['SourceName']\n", + " source_description = row['SourceDescription']\n", + " if type(source_name) ==str:\n", + " source_dict[source_name.lower()] = source_description\n", + "\n", + "Final_result_=pd.read_csv('/content/final_result_.csv')\n", + "\n", + "def get_def(a):\n", + " if a.lower() in source_dict and type(source_dict[a.lower()]) == str: return source_dict[a.lower()]\n", + " else: return a\n", + "Final_result_['GardNamedef']=Final_result_.apply(lambda x: get_def(x['GardName']), axis=1)" + ], + "metadata": { + "id": "UQdaqiLVayHo" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "for i in Final_result_[Final_result_['abstract_text'].isnull()].index:\n", + " Final_result_.at[i,'abstract_text']=Final_result_['project_title'][i]" + ], + "metadata": { + "id": "jJynL-8SVQvq" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "import warnings\n", + "def is_about_term(a,b):\n", + " #if type(a)==str and type(b)==str:\n", + " try:\n", + " return round(predict_similarity([a,b]), 2)\n", + " except:\n", + " return round(predict_similarity([a[:1500],b[:1500]]), 2)\n", + "\n", + "'''\n", + "'GardNamedef'\n", + "'abstract_text',\n", + "'GardName',\n", + "'Part of the abstract that include the GARD name',\n", + "'Evaluation ',\n", + "'Evaluation_score',\n", + "'phr_text',\n", + " 'project_title'\n", + " '''\n", + "\n", + "Final_result_['SEM_SIM_updated']=Final_result_.apply(lambda x: is_about_term(x['GardNamedef'], x['abstract_text']), axis=1)\n", + "\n" + ], + "metadata": { + "id": "9mrS1cfpZoi7" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "s-W8ipVUSevi", + "outputId": "afaf6f58-10fe-4208-bafa-ce916919a32f" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "execute_result", + "data": { + "text/plain": [ + "116" + ] + }, + "metadata": {}, + "execution_count": 20 + } + ] + }, + { + "cell_type": "code", + "source": [ + "Jaber=Final_result_[Final_result_['Reviewer']=='Jaber']\n", + "Qian=Final_result_[Final_result_['Reviewer']== 'Qian']\n", + "Riea=Final_result_[Final_result_['Reviewer']=='Riea']\n", + "Yanji=Final_result_[Final_result_['Reviewer']=='Yanji']\n", + "LLM=Final_result_[Final_result_['Evaluation_llm '].isin(['tru','fals'])]\n", + "\n", + "def check_performance(Final_result_):\n", + " true_=Final_result_[Final_result_['Evaluation '].isin(['tru','T'])]\n", + " false_=Final_result_[Final_result_['Evaluation '].isin(['fals','F'])]\n", + " res=pd.DataFrame()\n", + " #res.at['True','SEM_SIM_ (part)'] = true_['SEM_SIM (Compared to the part of the abstract that include the GARD name)'].mean()\n", + " res.at['True','SEM_SIM_ (whole)'] = true_['SEM_SIM (Compared to the whole abstract)'].mean()\n", + " res.at['True','SEM_SIM_ (SEM_SIM_updated)'] = true_['SEM_SIM_updated'].mean()\n", + " #res.at['False','SEM_SIM_ (part)'] = false_['SEM_SIM (Compared to the part of the abstract that include the GARD name)'].mean()\n", + " res.at['False','SEM_SIM_ (whole)'] = false_['SEM_SIM (Compared to the whole abstract)'].mean()\n", + " res.at['False','SEM_SIM_ (SEM_SIM_updated)'] = false_['SEM_SIM_updated'].mean()\n", + " display(res)\n", + "\n", + "print('------------------- All --------------')\n", + "check_performance(Final_result_)\n", + "print('------------------- Qian --------------')\n", + "check_performance(Qian)\n", + "print('------------------- Yanji --------------')\n", + "check_performance(Yanji)\n", + "print('------------------- Riea --------------')\n", + "check_performance(Riea)\n", + "print('------------------- Jaber --------------')\n", + "check_performance(Jaber)\n", + "print('------------------- LLM --------------')\n", + "check_performance(LLM)\n" + ], 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normalize(x,a):\n", + " if x < a:\n", + " return math.log(x) / math.log(a)\n", + " else:\n", + " return 1\n", + "\n", + "\n", + "def get_eval(Qian, threshold,a):\n", + " Qian['CONF_SCORE1']=Qian.apply(lambda X: normalize(X['CONF_SCORE'],a) , axis=1)\n", + " Qian['algo']=Qian.apply(lambda X: cal_(X['CONF_SCORE1'],X['SEM_SIM_updated'],X['SEM_SIM_updated'],threshold) ,axis=1)\n", + " #print(Qian['algo'].isnull().sum())\n", + " #print(Qian['algo'])\n", + " res=pd.DataFrame()\n", + " res.at['our:True','algo:True'] = Qian[Qian['Evaluation '].isin(['tru','T']) & Qian['algo'].isin(['tru','T'])].shape[0]\n", + " res.at['our:True','algo:False'] = Qian[Qian['Evaluation '].isin(['tru','T']) & Qian['algo'].isin(['fals','F'])].shape[0]\n", + " res.at['our:False','algo:True'] = Qian[Qian['Evaluation '].isin(['fals','F']) & Qian['algo'].isin(['tru','T'])].shape[0]\n", + " res.at['our:False','algo:False'] = Qian[Qian['Evaluation '].isin(['fals','F']) & Qian['algo'].isin(['fals','F'])].shape[0]\n", + " All_=(res['algo:True']['our:True']+ res['algo:False']['our:False'])+(res['algo:False']['our:True']+ res['algo:True']['our:False'])\n", + " accuracy= (res['algo:True']['our:True']+ res['algo:False']['our:False']) / All_\n", + " #print('ave(CONF_SCORE , SEM_SIM (whole) ) > ', threshold, ', Accuracy:',round(accuracy,3),', False positive:', res['algo:True']['our:False'] ,'(%', str( round( 100*res['algo:True']['our:False'] / All_ ,3) ),')')\n", + " #\n", + " #print(res)\n", + " return [round(accuracy,3), res['algo:True']['our:False'] , str( round( 100*res['algo:True']['our:False'] / All_ ,3) )]\n", + "\n", + "#get_eval(Qian, 0.5,10)" + ], + "metadata": { + "id": "lxhH7I9WSRZn" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "utput=[]\n", + "Qian=Final_result_\n", + "def cal_(x,y,z,threshold):\n", + " if z > threshold: return 'tru'\n", + " else: return 'fals'\n", + "for j in [0.1,0.3,0.5,0.6,0.7,0.9,0.95,0.99]:\n", + " print('-----------------------------------------------------')\n", + " get_eval(Qian, j,20)" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "F0sJKuqES2Z-", + "outputId": "a4604dae-4ca4-4b3d-e121-e025b427af33" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.1 , Accuracy: 0.712 , False positive: 522.0 (% 28.65 )\n", + " algo:True algo:False\n", + "our:True 1250.0 3.0\n", + "our:False 522.0 47.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.3 , Accuracy: 0.762 , False positive: 409.0 (% 22.448 )\n", + " algo:True algo:False\n", + "our:True 1228.0 25.0\n", + "our:False 409.0 160.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.5 , Accuracy: 0.789 , False positive: 300.0 (% 16.465 )\n", + " algo:True algo:False\n", + "our:True 1168.0 85.0\n", + "our:False 300.0 269.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.6 , Accuracy: 0.8 , False positive: 230.0 (% 12.623 )\n", + " algo:True algo:False\n", + "our:True 1118.0 135.0\n", + "our:False 230.0 339.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.7 , Accuracy: 0.776 , False positive: 155.0 (% 8.507 )\n", + " algo:True algo:False\n", + "our:True 999.0 254.0\n", + "our:False 155.0 414.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.9 , Accuracy: 0.522 , False positive: 25.0 (% 1.372 )\n", + " algo:True algo:False\n", + "our:True 407.0 846.0\n", + "our:False 25.0 544.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.95 , Accuracy: 0.35 , False positive: 1.0 (% 0.055 )\n", + " algo:True algo:False\n", + "our:True 70.0 1183.0\n", + "our:False 1.0 568.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.99 , Accuracy: 0.312 , False positive: 0.0 (% 0.0 )\n", + " algo:True algo:False\n", + "our:True 0.0 1253.0\n", + "our:False 0.0 569.0\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [ + "\n", + "def cal_(x,y,z,threshold):\n", + " if x*z > threshold: return 'tru'\n", + " else: return 'fals'\n", + "for j in [0.01,0.025,0.05, 0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.7,0.9]:\n", + " print('-----------------------------------------------------')\n", + " get_eval(Qian, j,20)" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "n3OQYHMhYFyD", + "outputId": "6a0c6e05-1c5a-4e9d-c321-81a49d271e9a" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.01 , Accuracy: 0.714 , False positive: 479.0 (% 26.29 )\n", + " algo:True algo:False\n", + "our:True 1210.0 43.0\n", + "our:False 479.0 90.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.025 , Accuracy: 0.718 , False positive: 469.0 (% 25.741 )\n", + " algo:True algo:False\n", + "our:True 1209.0 44.0\n", + "our:False 469.0 100.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.05 , Accuracy: 0.734 , False positive: 437.0 (% 23.985 )\n", + " algo:True algo:False\n", + "our:True 1205.0 48.0\n", + "our:False 437.0 132.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.1 , Accuracy: 0.76 , False positive: 371.0 (% 20.362 )\n", + " algo:True algo:False\n", + "our:True 1186.0 67.0\n", + "our:False 371.0 198.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.2 , Accuracy: 0.767 , False positive: 245.0 (% 13.447 )\n", + " algo:True algo:False\n", + "our:True 1074.0 179.0\n", + "our:False 245.0 324.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.3 , Accuracy: 0.76 , False positive: 173.0 (% 9.495 )\n", + " algo:True algo:False\n", + "our:True 988.0 265.0\n", + "our:False 173.0 396.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.4 , Accuracy: 0.744 , False positive: 118.0 (% 6.476 )\n", + " algo:True algo:False\n", + "our:True 905.0 348.0\n", + "our:False 118.0 451.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.5 , Accuracy: 0.716 , False positive: 88.0 (% 4.83 )\n", + " algo:True algo:False\n", + "our:True 824.0 429.0\n", + "our:False 88.0 481.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.55 , Accuracy: 0.684 , False positive: 70.0 (% 3.842 )\n", + " algo:True algo:False\n", + "our:True 748.0 505.0\n", + "our:False 70.0 499.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.6 , Accuracy: 0.659 , False positive: 55.0 (% 3.019 )\n", + " algo:True algo:False\n", + "our:True 686.0 567.0\n", + "our:False 55.0 514.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.7 , Accuracy: 0.611 , False positive: 40.0 (% 2.195 )\n", + " algo:True algo:False\n", + "our:True 584.0 669.0\n", + "our:False 40.0 529.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.9 , Accuracy: 0.435 , False positive: 7.0 (% 0.384 )\n", + " algo:True algo:False\n", + "our:True 231.0 1022.0\n", + "our:False 7.0 562.0\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [ + "def cal_(x,y,z,threshold):\n", + " if (x+z)/2 > threshold: return 'tru'\n", + " else: return 'fals'\n", + "for j in [0.01,0.025,0.05, 0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.7,0.9]:\n", + " print('-----------------------------------------------------')\n", + " get_eval(Qian, j,20)" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "D7F0m8ggYdgO", + "outputId": "05f6c0a0-a01f-455d-dff9-2f4af271f3d4" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.01 , Accuracy: 0.691 , False positive: 563.0 (% 30.9 )\n", + " algo:True algo:False\n", + "our:True 1253.0 0.0\n", + "our:False 563.0 6.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.025 , Accuracy: 0.693 , False positive: 559.0 (% 30.681 )\n", + " algo:True algo:False\n", + "our:True 1253.0 0.0\n", + "our:False 559.0 10.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.05 , Accuracy: 0.696 , False positive: 553.0 (% 30.351 )\n", + " algo:True algo:False\n", + "our:True 1253.0 0.0\n", + "our:False 553.0 16.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.1 , Accuracy: 0.701 , False positive: 543.0 (% 29.802 )\n", + " algo:True algo:False\n", + "our:True 1251.0 2.0\n", + "our:False 543.0 26.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.2 , Accuracy: 0.722 , False positive: 496.0 (% 27.223 )\n", + " algo:True algo:False\n", + "our:True 1243.0 10.0\n", + "our:False 496.0 73.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.3 , Accuracy: 0.752 , False positive: 423.0 (% 23.216 )\n", + " algo:True algo:False\n", + "our:True 1225.0 28.0\n", + "our:False 423.0 146.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.4 , Accuracy: 0.77 , False positive: 341.0 (% 18.716 )\n", + " algo:True algo:False\n", + "our:True 1175.0 78.0\n", + "our:False 341.0 228.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.5 , Accuracy: 0.78 , False positive: 252.0 (% 13.831 )\n", + " algo:True algo:False\n", + "our:True 1105.0 148.0\n", + "our:False 252.0 317.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.55 , Accuracy: 0.773 , False positive: 198.0 (% 10.867 )\n", + " algo:True algo:False\n", + "our:True 1038.0 215.0\n", + "our:False 198.0 371.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.6 , Accuracy: 0.77 , False positive: 144.0 (% 7.903 )\n", + " algo:True algo:False\n", + "our:True 978.0 275.0\n", + "our:False 144.0 425.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.7 , Accuracy: 0.723 , False positive: 93.0 (% 5.104 )\n", + " algo:True algo:False\n", + "our:True 841.0 412.0\n", + "our:False 93.0 476.0\n", + "-----------------------------------------------------\n", + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.9 , Accuracy: 0.541 , False positive: 24.0 (% 1.317 )\n", + " algo:True algo:False\n", + "our:True 440.0 813.0\n", + "our:False 24.0 545.0\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [ + "output=[]\n", + "def cal_(x,y,z,threshold):\n", + " if x > threshold: return 'tru'\n", + " else: return 'fals'\n", + "#'CONF_SCORE1'],X['SEM_SIM\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','CONF_SCORE1'] )\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if y > threshold: return 'tru'\n", + " else: return 'fals'\n", + "\n", + "for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','SEM_SIM (part)'] )\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if z > threshold: return 'tru'\n", + " else: return 'fals'\n", + "\n", + "for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','SEM_SIM (whole)'] )\n", + "\n", + "\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if x*y*z > threshold: return 'tru'\n", + " else: return 'fals'\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','CONF_SCORE1*SEM_SIM (part)*SEM_SIM (whole)'] )\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if x*y > threshold: return 'tru'\n", + " else: return 'fals'\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','CONF_SCORE1*SEM_SIM (part)'] )\n", + "\n", + "\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if x*z > threshold: return 'tru'\n", + " else: return 'fals'\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','CONF_SCORE1*SEM_SIM (whole)'] )\n", + "\n", + "\n", + "\n", + "\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if (x+y+z) /3> threshold: return 'tru'\n", + " else: return 'fals'\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','CONF_SCORE1+SEM_SIM (part)+SEM_SIM (whole)'] )\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if (x+y)/2 > threshold: return 'tru'\n", + " else: return 'fals'\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','CONF_SCORE1+SEM_SIM (part)'] )\n", + "\n", + "\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if (x+z)/2 > threshold: return 'tru'\n", + " else: return 'fals'\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','CONF_SCORE1+SEM_SIM (whole)'] )\n", + "\n" + ], + "metadata": { + "id": "x8EUaURLYyfA" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "print('------------------------ false positive ----------------------------')\n", + "\n", + "n=0\n", + "for j in output:\n", + " if n<4:\n", + " if j[1] <20: print(j);n+=1\n", + "\n", + "print('------------------------ accuracy ----------------------------')\n", + "\n", + "n=0\n", + "for j in output:\n", + " if n<4:\n", + " if j[0] >0.79: print(j);n+=1\n", + "\n", + "print('------------------------ both accuracy and false positive ----------------------------')\n", + "n=0\n", + "for j in output:\n", + " if n<4:\n", + " if j[0] >0.74 and j[1] <100: print(j);n+=1\n" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "t-1XNu0UY7NR", + "outputId": "c07ab416-a8ce-4e65-cb92-4781801d2bdc" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "------------------------ false positive ----------------------------\n", + "[0.318, 1.0, '0.055', 'threshold:', 0.9, 'norm_coe:', 30, 'fun:', 'CONF_SCORE1']\n", + "[0.314, 1.0, '0.055', 'threshold:', 0.95, 'norm_coe:', 30, 'fun:', 'CONF_SCORE1']\n", + "[0.35, 1.0, '0.055', 'threshold:', 0.95, 'norm_coe:', 30, 'fun:', 'SEM_SIM (part)']\n", + "[0.35, 1.0, '0.055', 'threshold:', 0.95, 'norm_coe:', 30, 'fun:', 'SEM_SIM (whole)']\n", + "------------------------ accuracy ----------------------------\n", + "[0.796, 267.0, '14.654', 'threshold:', 0.55, 'norm_coe:', 30, 'fun:', 'SEM_SIM (part)']\n", + "[0.8, 230.0, '12.623', 'threshold:', 0.6, 'norm_coe:', 30, 'fun:', 'SEM_SIM (part)']\n", + "[0.795, 191.0, '10.483', 'threshold:', 0.65, 'norm_coe:', 30, 'fun:', 'SEM_SIM (part)']\n", + "[0.796, 267.0, '14.654', 'threshold:', 0.55, 'norm_coe:', 30, 'fun:', 'SEM_SIM (whole)']\n", + "------------------------ both accuracy and false positive ----------------------------\n", + "[0.741, 96.0, '5.269', 'threshold:', 0.4, 'norm_coe:', 10, 'fun:', 'CONF_SCORE1*SEM_SIM (part)*SEM_SIM (whole)']\n", + "[0.76, 97.0, '5.324', 'threshold:', 0.7, 'norm_coe:', 20, 'fun:', 'CONF_SCORE1+SEM_SIM (part)+SEM_SIM (whole)']\n", + "[0.744, 85.0, '4.665', 'threshold:', 0.7, 'norm_coe:', 30, 'fun:', 'CONF_SCORE1+SEM_SIM (part)+SEM_SIM (whole)']\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [ + "output=[]\n", + "def cal_(x,y,z,threshold):\n", + " if x > threshold: return 'tru'\n", + " else: return 'fals'\n", + "#'CONF_SCORE1'],X['SEM_SIM\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','CONF_SCORE1'] )\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if y > threshold: return 'tru'\n", + " else: return 'fals'\n", + "\n", + "for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','SEM_SIM (part)'] )\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if z > threshold: return 'tru'\n", + " else: return 'fals'\n", + "\n", + "for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','SEM_SIM (whole)'] )\n", + "\n", + "\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if x*y*z > threshold: return 'tru'\n", + " else: return 'fals'\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','CONF_SCORE1*SEM_SIM (part)*SEM_SIM (whole)'] )\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if x*y > threshold: return 'tru'\n", + " else: return 'fals'\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','CONF_SCORE1*SEM_SIM (part)'] )\n", + "\n", + "\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if x*z*z*z > threshold: return 'tru'\n", + " else: return 'fals'\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:',' x*z*z*z '] )\n", + "\n", + "\n", + "\n", + "\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if (x+y+z) /3> threshold: return 'tru'\n", + " else: return 'fals'\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','CONF_SCORE1+SEM_SIM (part)+SEM_SIM (whole)'] )\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if (x+3*y)/4 > threshold: return 'tru'\n", + " else: return 'fals'\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','(x+3*y)/4 '] )\n", + "\n", + "\n", + "\n", + "def cal_(x,y,z,threshold):\n", + " if (x+4*z)/5 > threshold: return 'tru'\n", + " else: return 'fals'\n", + "for i in [3,5,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.65,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','(x+4*z)/5' ] )\n", + "\n" + ], + "metadata": { + "id": "AMIBJgz4TpM2" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "print('------------------------ false positive ----------------------------')\n", + "n=0\n", + "for j in output:\n", + " if n<4:\n", + " if j[1] <2: print(j);n+=1\n", + "print('------------------------ accuracy ----------------------------')\n", + "n=0\n", + "for j in output:\n", + " if n<4:\n", + " if j[0] >0.80: print(j);n+=1\n", + "print('------------------------ both accuracy and false positive ----------------------------')\n", + "n=0\n", + "for j in output:\n", + " if n<4:\n", + " if j[0] >0.75 and j[1] <100: print(j);n+=1" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "65KFb-pmUCbS", + "outputId": "0153092c-80b9-4acf-d9af-ad8a186130de" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "------------------------ false positive ----------------------------\n", + "[0.318, 1.0, '0.055', 'threshold:', 0.9, 'norm_coe:', 30, 'fun:', 'CONF_SCORE1']\n", + "[0.314, 1.0, '0.055', 'threshold:', 0.95, 'norm_coe:', 30, 'fun:', 'CONF_SCORE1']\n", + "[0.35, 1.0, '0.055', 'threshold:', 0.95, 'norm_coe:', 30, 'fun:', 'SEM_SIM (part)']\n", + "[0.35, 1.0, '0.055', 'threshold:', 0.95, 'norm_coe:', 30, 'fun:', 'SEM_SIM (whole)']\n", + "------------------------ accuracy ----------------------------\n", + "[0.801, 220.0, '12.075', 'threshold:', 0.6, 'norm_coe:', 10, 'fun:', '(x+3*y)/4 ']\n", + "[0.801, 242.0, '13.282', 'threshold:', 0.55, 'norm_coe:', 20, 'fun:', '(x+3*y)/4 ']\n", + "[0.806, 228.0, '12.514', 'threshold:', 0.55, 'norm_coe:', 30, 'fun:', '(x+3*y)/4 ']\n", + "[0.802, 224.0, '12.294', 'threshold:', 0.6, 'norm_coe:', 10, 'fun:', '(x+4*z)/5']\n", + "------------------------ both accuracy and false positive ----------------------------\n", + "[0.755, 98.0, '5.379', 'threshold:', 0.2, 'norm_coe:', 30, 'fun:', ' x*z*z*z ']\n", + "[0.76, 97.0, '5.324', 'threshold:', 0.7, 'norm_coe:', 20, 'fun:', 'CONF_SCORE1+SEM_SIM (part)+SEM_SIM (whole)']\n", + "[0.767, 99.0, '5.434', 'threshold:', 0.7, 'norm_coe:', 30, 'fun:', '(x+3*y)/4 ']\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [ + "output=[]\n", + "def cal_(x,y,z,threshold):\n", + " if x*z > threshold: return 'tru'\n", + " else: return 'fals'\n", + "#'CONF_SCORE1'],X['SEM_SIM\n", + "for i in [3,4,5,6,7,8,9,10,15,20,30]:\n", + " for j in [0.01,0.025,0.05,0.1,0.2,0.3,0.4,0.5,0.55,0.6,0.625,0.65,.675,0.7,0.8,0.9,0.95]:\n", + " output.append( get_eval(Qian, j,i)+['threshold:',j,'norm_coe:',i,'fun:','CONF_SCORE1*sem_sim'] )\n", + "print('------------------------ both accuracy and false positive ----------------------------')\n", + "n=0\n", + "for j in output:\n", + " if n<4:\n", + " if j[0] >0.73 and j[1] <100: print(j);n+=1\n", + "\n" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "aNsPKTK8WZfW", + "outputId": "53283e3b-c4e4-484a-8d80-b342d995d45b" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "------------------------ both accuracy and false positive ----------------------------\n", + "[0.735, 96.0, '5.269', 'threshold:', 0.7, 'norm_coe:', 4, 'fun:', 'CONF_SCORE1*sem_sim']\n", + "[0.739, 99.0, '5.434', 'threshold:', 0.65, 'norm_coe:', 5, 'fun:', 'CONF_SCORE1*sem_sim']\n", + "[0.732, 97.0, '5.324', 'threshold:', 0.65, 'norm_coe:', 6, 'fun:', 'CONF_SCORE1*sem_sim']\n", + "[0.734, 98.0, '5.379', 'threshold:', 0.625, 'norm_coe:', 7, 'fun:', 'CONF_SCORE1*sem_sim']\n" + ] + } + ] + }, + { + "cell_type": "markdown", + "source": [ + "# Sample 200" + ], + "metadata": { + "id": "67YNjCS_f9-K" + } + }, + { + "cell_type": "code", + "source": [ + "help=pd.read_csv('/content/J_GARD_master.csv')\n", + "source_dict = {}\n", + "for index, row in help.iterrows():\n", + " source_name = row['SourceName']\n", + " source_description = row['SourceDescription']\n", + " if type(source_name) ==str:\n", + " source_dict[source_name.lower()] = source_description\n", + "\n", + "Final_result_=pd.read_csv('/content/sample_200.csv')\n", + "Final_result_=Final_result_[Final_result_['Evaluation'].isin(['tru','fals'])]" + ], + "metadata": { + "id": "2dihb1i-gAS2" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "def get_def(a):\n", + " if a.lower() in source_dict and type(source_dict[a.lower()]) == str: return source_dict[a.lower()]\n", + " else: return a\n", + "Final_result_['GardNamedef']=Final_result_.apply(lambda x: get_def(x['GardName']), axis=1)\n", + "for i in Final_result_[Final_result_['abstract_text'].isnull()].index:\n", + " Final_result_.at[i,'abstract_text']=Final_result_['project_title'][i]" + ], + "metadata": { + "id": "9j4v--XFgVh9" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "Final_result_.columns" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "XDiWSpxRhW59", + "outputId": "56d2bde9-336b-4c9f-e5dd-c1fe8bb8639c" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "execute_result", + "data": { + "text/plain": [ + "Index(['abstract_text', 'project_title', 'phr_text', 'project_detail_url',\n", + " 'pref_terms', 'appl_id', 'project_num', 'GardName', 'CONF_SCORE',\n", + " 'SEM_SIM (only_sen)', 'SEM_SIM (whole_abstract)', 'Evaluation',\n", + " 'Unnamed: 12', 'only_sen', 'terms', 'Synonyms', 'IS_MAPPED_TO_TERM',\n", + " 'GardNamedef'],\n", + " dtype='object')" + ] + }, + "metadata": {}, + "execution_count": 65 + } + ] + }, + { + "cell_type": "code", + "source": [ + "def check_performance(Final_result_):\n", + " true_=Final_result_[Final_result_['Evaluation'].isin(['tru','T'])]\n", + " false_=Final_result_[Final_result_['Evaluation'].isin(['fals','F'])]\n", + " res=pd.DataFrame()\n", + " #res.at['True','SEM_SIM_ (part)'] = true_['SEM_SIM (Compared to the part of the abstract that include the GARD name)'].mean()\n", + " res.at['True','SEM_SIM (only_sen)'] = true_['SEM_SIM (only_sen)'].mean()\n", + " res.at['True','SEM_SIM (whole_abstract)'] = true_['SEM_SIM (whole_abstract)'].mean()\n", + " #res.at['False','SEM_SIM_ (part)'] = false_['SEM_SIM (Compared to the part of the abstract that include the GARD name)'].mean()\n", + " res.at['False','SEM_SIM (only_sen)'] = false_['SEM_SIM (only_sen)'].mean()\n", + " res.at['False','SEM_SIM (whole_abstract)'] = false_['SEM_SIM (whole_abstract)'].mean()\n", + " display(res)\n", + "\n", + "print('------------------- All --------------')\n", + "check_performance(Final_result_)\n" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 130 + }, + "id": "sP_Q7Bfsgclh", + "outputId": "69c12967-984a-478c-e6c9-1bed5849f842" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "------------------- All --------------\n" + ] + }, + { + "output_type": "display_data", + "data": { + "text/plain": [ + " SEM_SIM (only_sen) SEM_SIM (whole_abstract)\n", + "True 0.886087 0.865652\n", + "False 0.583333 0.459167" + ], + "text/html": [ + "\n", + "
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\n" + ], + "application/vnd.google.colaboratory.intrinsic+json": { + "type": "dataframe", + "summary": "{\n \"name\": \"check_performance(Final_result_)\",\n \"rows\": 2,\n \"fields\": [\n {\n \"column\": \"SEM_SIM (only_sen)\",\n \"properties\": {\n \"dtype\": \"number\",\n \"std\": 0.21407913998531847,\n \"min\": 0.5833333333333333,\n \"max\": 0.886086956521739,\n \"num_unique_values\": 2,\n \"samples\": [\n 0.5833333333333333,\n 0.886086956521739\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"SEM_SIM (whole_abstract)\",\n \"properties\": {\n \"dtype\": \"number\",\n \"std\": 0.2874286586279666,\n \"min\": 0.4591666666666667,\n \"max\": 0.8656521739130436,\n \"num_unique_values\": 2,\n \"samples\": [\n 0.4591666666666667,\n 0.8656521739130436\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n }\n ]\n}" + } + }, + "metadata": {} + } + ] + }, + { + "cell_type": "code", + "source": [ + "import warnings\n", + "\n", + "import math\n", + "def normalize(x,a):\n", + " if x < a:\n", + " return math.log(x) / math.log(a)\n", + " else:\n", + " return 1\n", + "\n", + "\n", + "def get_eval(Qian, threshold,a):\n", + " Qian['CONF_SCORE1']=Qian.apply(lambda X: normalize(X['CONF_SCORE'],a) , axis=1)\n", + " Qian['algo']=Qian.apply(lambda X: cal_(X['CONF_SCORE1'],X['SEM_SIM (whole_abstract)'],X['SEM_SIM (whole_abstract)'],threshold) ,axis=1)\n", + " #print(Qian['algo'].isnull().sum())\n", + " #print(Qian['algo'])\n", + " res=pd.DataFrame()\n", + " res.at['our:True','algo:True'] = Qian[Qian['Evaluation'].isin(['tru','T']) & Qian['algo'].isin(['tru','T'])].shape[0]\n", + " res.at['our:True','algo:False'] = Qian[Qian['Evaluation'].isin(['tru','T']) & Qian['algo'].isin(['fals','F'])].shape[0]\n", + " res.at['our:False','algo:True'] = Qian[Qian['Evaluation'].isin(['fals','F']) & Qian['algo'].isin(['tru','T'])].shape[0]\n", + " res.at['our:False','algo:False'] = Qian[Qian['Evaluation'].isin(['fals','F']) & Qian['algo'].isin(['fals','F'])].shape[0]\n", + " All_=(res['algo:True']['our:True']+ res['algo:False']['our:False'])+(res['algo:False']['our:True']+ res['algo:True']['our:False'])\n", + " accuracy= (res['algo:True']['our:True']+ res['algo:False']['our:False']) / All_\n", + " print('ave(CONF_SCORE , SEM_SIM (whole) ) > ', threshold, ', Accuracy:',round(accuracy,3),', False positive:', res['algo:True']['our:False'] ,'(%', str( round( 100*res['algo:True']['our:False'] / All_ ,3) ),')')\n", + " #\n", + " print(res)\n", + " return [round(accuracy,3), res['algo:True']['our:False'] , str( round( 100*res['algo:True']['our:False'] / All_ ,3) )]\n", + "\n", + "#get_eval(Qian, 0.5,10)" + ], + "metadata": { + "id": "BP-duo2Lh0HQ" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "output=[]\n", + "def cal_(x,y,z,threshold):\n", + " if x*z > threshold: return 'tru'\n", + " else: return 'fals'\n", + "\n", + "\n", + "get_eval(Final_result_, 0.65,5)" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "IaiPCaeJiTeW", + "outputId": "6324fbdd-1dd4-4b75-f086-d6f7bc9cb02a" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "ave(CONF_SCORE , SEM_SIM (whole) ) > 0.65 , Accuracy: 0.857 , False positive: 1.0 (% 2.857 )\n", + " algo:True algo:False\n", + "our:True 19.0 4.0\n", + "our:False 1.0 11.0\n" + ] + }, + { + "output_type": "execute_result", + "data": { + "text/plain": [ + "[0.857, 1.0, '2.857']" + ] + }, + "metadata": {}, + "execution_count": 75 + } + ] + }, + { + "cell_type": "markdown", + "source": [ + "#Grant_project\n", + "\n" + ], + "metadata": { + "id": "7W3cd-iBK0D-" + } + }, + { + "cell_type": "code", + "source": [ + "help=pd.read_csv('/content/J_GARD_master.csv')\n", + "source_dict = {}\n", + "for index, row in help.iterrows():\n", + " source_name = row['SourceName']\n", + " source_description = row['SourceDescription']\n", + " if type(source_name) ==str:\n", + " source_dict[source_name.lower()] = source_description" + ], + "metadata": { + "id": "LAy-UmWuVwe0" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "#help=pd.read_excel('/content/Data.xlsx')#\n", + "help=pd.read_excel('/content/Data - final.xlsx')#\n", + "\n", + "#help['Yes/No'].unique()\n", + "def get_def(a):\n", + " return source_dict[a.lower()]\n", + "help['GardNamedef']=help.apply(lambda x: get_def(x['GardName']), axis=1)" + ], + "metadata": { + "id": "3yghJ7S5O7WU" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "import nltk\n", + "nltk.download('punkt')\n", + "from nltk.stem import PorterStemmer\n", + "from nltk.tokenize import word_tokenize\n", + "import re\n", + "def stem_text(text):\n", + " # Initialize the Porter Stemmer\n", + " stemmer = PorterStemmer()\n", + " # Remove punctuation\n", + " text_without_punctuation = re.sub(r'[^\\w\\s]', '', text)\n", + " # Tokenize the text into words\n", + " words = word_tokenize(text_without_punctuation)\n", + " # Perform stemming on each word\n", + " stemmed_words = [stemmer.stem(word) for word in words]\n", + " # Join the stemmed words back into a single string\n", + " stemmed_text = ' '.join(stemmed_words)\n", + " return stemmed_text\n", + "\n", + "def get_sen(paragraph, target_word,title):\n", + " if not isinstance(paragraph, str):\n", + " return title.lower()\n", + " # Define characters indicating the start of a new sentence\n", + " new_sentence_chars = ['-', ':', ';', '1)', '2)', '3)', '4)', '5)', '6)', '7)', '8)']\n", + " # Split the paragraph into sentences using provided characters\n", + " for char in new_sentence_chars:\n", + " paragraph = paragraph.replace(char, '.')\n", + "\n", + " # Split the paragraph into sentences using standard punctuation\n", + " sentences = re.split(r'(?\u001b[0m in \u001b[0;36m\u001b[0;34m()\u001b[0m\n\u001b[0;32m----> 1\u001b[0;31m \u001b[0mround\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mpredict_similarity\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0mTrue_\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;34m'GardName'\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;36m43\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m,\u001b[0m\u001b[0;34m'kssjkd'\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m,\u001b[0m\u001b[0;36m2\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0m", + "\u001b[0;32m\u001b[0m in \u001b[0;36mpredict_similarity\u001b[0;34m(sentence_pair)\u001b[0m\n\u001b[1;32m 1\u001b[0m \u001b[0;32mdef\u001b[0m \u001b[0mpredict_similarity\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0msentence_pair\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0;32m----> 2\u001b[0;31m \u001b[0mtest_input\u001b[0m \u001b[0;34m=\u001b[0m \u001b[0mtokenizer\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0msentence_pair\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mpadding\u001b[0m\u001b[0;34m=\u001b[0m\u001b[0;32mTrue\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mtruncation\u001b[0m\u001b[0;34m=\u001b[0m\u001b[0;32mFalse\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mreturn_tensors\u001b[0m\u001b[0;34m=\u001b[0m\u001b[0;34m\"pt\"\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mto\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mdevice\u001b[0m\u001b[0;34m)\u001b[0m \u001b[0;31m# max_length = 512,\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0m\u001b[1;32m 3\u001b[0m \u001b[0mtest_input\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;34m'input_ids'\u001b[0m\u001b[0;34m]\u001b[0m \u001b[0;34m=\u001b[0m \u001b[0mtest_input\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;34m'input_ids'\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[1;32m 4\u001b[0m \u001b[0mtest_input\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;34m'attention_mask'\u001b[0m\u001b[0;34m]\u001b[0m \u001b[0;34m=\u001b[0m \u001b[0mtest_input\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;34m'attention_mask'\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[1;32m 5\u001b[0m \u001b[0;31m#del test_input['token_type_ids']\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n", + "\u001b[0;32m/usr/local/lib/python3.10/dist-packages/transformers/tokenization_utils_base.py\u001b[0m in \u001b[0;36mto\u001b[0;34m(self, device)\u001b[0m\n\u001b[1;32m 787\u001b[0m \u001b[0;31m# into a HalfTensor\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[1;32m 788\u001b[0m \u001b[0;32mif\u001b[0m \u001b[0misinstance\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mdevice\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mstr\u001b[0m\u001b[0;34m)\u001b[0m \u001b[0;32mor\u001b[0m \u001b[0mis_torch_device\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mdevice\u001b[0m\u001b[0;34m)\u001b[0m \u001b[0;32mor\u001b[0m \u001b[0misinstance\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mdevice\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mint\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0;32m--> 789\u001b[0;31m \u001b[0mself\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mdata\u001b[0m \u001b[0;34m=\u001b[0m \u001b[0;34m{\u001b[0m\u001b[0mk\u001b[0m\u001b[0;34m:\u001b[0m \u001b[0mv\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mto\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mdevice\u001b[0m\u001b[0;34m=\u001b[0m\u001b[0mdevice\u001b[0m\u001b[0;34m)\u001b[0m \u001b[0;32mfor\u001b[0m \u001b[0mk\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mv\u001b[0m \u001b[0;32min\u001b[0m \u001b[0mself\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mdata\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mitems\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m}\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0m\u001b[1;32m 790\u001b[0m \u001b[0;32melse\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[1;32m 791\u001b[0m \u001b[0mlogger\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mwarning\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0;34mf\"Attempting to cast a BatchEncoding to type {str(device)}. This is not supported.\"\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n", + "\u001b[0;32m/usr/local/lib/python3.10/dist-packages/transformers/tokenization_utils_base.py\u001b[0m in \u001b[0;36m\u001b[0;34m(.0)\u001b[0m\n\u001b[1;32m 787\u001b[0m \u001b[0;31m# into a HalfTensor\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[1;32m 788\u001b[0m \u001b[0;32mif\u001b[0m \u001b[0misinstance\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mdevice\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mstr\u001b[0m\u001b[0;34m)\u001b[0m \u001b[0;32mor\u001b[0m \u001b[0mis_torch_device\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mdevice\u001b[0m\u001b[0;34m)\u001b[0m \u001b[0;32mor\u001b[0m \u001b[0misinstance\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mdevice\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mint\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0;32m--> 789\u001b[0;31m \u001b[0mself\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mdata\u001b[0m \u001b[0;34m=\u001b[0m \u001b[0;34m{\u001b[0m\u001b[0mk\u001b[0m\u001b[0;34m:\u001b[0m \u001b[0mv\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mto\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mdevice\u001b[0m\u001b[0;34m=\u001b[0m\u001b[0mdevice\u001b[0m\u001b[0;34m)\u001b[0m \u001b[0;32mfor\u001b[0m \u001b[0mk\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mv\u001b[0m \u001b[0;32min\u001b[0m \u001b[0mself\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mdata\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mitems\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m}\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0m\u001b[1;32m 790\u001b[0m \u001b[0;32melse\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[1;32m 791\u001b[0m \u001b[0mlogger\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mwarning\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0;34mf\"Attempting to cast a BatchEncoding to type {str(device)}. This is not supported.\"\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n", + "\u001b[0;31mRuntimeError\u001b[0m: CUDA error: device-side assert triggered\nCUDA kernel errors might be asynchronously reported at some other API call, so the stacktrace below might be incorrect.\nFor debugging consider passing CUDA_LAUNCH_BLOCKING=1.\nCompile with `TORCH_USE_CUDA_DSA` to enable device-side assertions.\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [ + "#'GardName', 'ABSTRACT_TEXT', 'GardNamedef', 'Title'\n", + "import warnings\n", + "def is_about_term(a,b):\n", + " if type(a)==str and type(b)==str:\n", + " try: return round(predict_similarity([a,b]), 2)\n", + " except: return\n", + "\n", + "\n", + "\n", + "def result_text_similarity():\n", + " results_df = pd.DataFrame()\n", + " True_['new']=True_.apply(lambda x: is_about_term(x['GardName'], x['ABSTRACT_TEXT']), axis=1)\n", + " results_df.at['true',\"name_abstract\"]=True_['new'].mean()\n", + " True_['new']=True_.apply(lambda x: is_about_term(x['ABSTRACT_TEXT'], x['GardNamedef']), axis=1)\n", + " results_df.at['true',\"def_abstract\"]=True_['new'].mean()\n", + " True_['new']=True_.apply(lambda x: is_about_term(x['GardNamedef'], x['Title']), axis=1)\n", + " results_df.at['true',\"def_title\"]=True_['new'].mean()\n", + " True_['new']=True_.apply(lambda x: is_about_term(x['GardNamedef'], x['sen']), axis=1)\n", + " results_df.at['true',\"def_sen\"]=True_['new'].mean()\n", + "\n", + " #MAybe_['new']=MAybe_.apply(lambda x: is_about_term(x['GardName'], x['ABSTRACT_TEXT']), axis=1)\n", + " #results_df.at['MAybe',\"name_abstract\"]=MAybe_['new'].mean()\n", + " #Maybe_['new']=MAybe_.apply(lambda x: is_about_term(x['ABSTRACT_TEXT'], x['GardNamedef'])), axis=1)\n", + " #results_df.at['MAybe',\"def_abstract\"]=MAybe_['new'].mean()\n", + " #MAybe_['new']=MAybe_.apply(lambda x: is_about_term(x['GardNamedef'], x['Title']), axis=1)\n", + " #results_df.at['MAybe',\"def_title\"]=MAybe_['new'].mean()\n", + " #MAybe_['new']=MAybe_.apply(lambda x: is_about_term(x['GardNamedef'], x['sen']), axis=1)\n", + " #results_df.at['true',\"def_sen\"]=MAybe_['new'].mean()\n", + "\n", + " false_['new']=false_.apply(lambda x: is_about_term(x['GardName'], x['ABSTRACT_TEXT']), axis=1)\n", + " results_df.at['false',\"name_abstract\"]=false_['new'].mean()\n", + " false_['new']=false_.apply(lambda x: is_about_term(x['ABSTRACT_TEXT'], x['GardNamedef']), axis=1)\n", + " results_df.at['false',\"def_abstract\"]=false_['new'].mean()\n", + " false_['new']=false_.apply(lambda x: is_about_term(x['GardNamedef'], x['Title']), axis=1)\n", + " results_df.at['false',\"def_title\"]=false_['new'].mean()\n", + " false_['new']=false_.apply(lambda x: is_about_term(x['GardNamedef'], x['sen']), axis=1)\n", + " results_df.at['false',\"def_sen\"]=false_['new'].mean()\n", + " return results_df\n", + "warnings.filterwarnings(\"ignore\")" + ], + "metadata": { + "id": "SuJ_lVa34CPA" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "source": [ + "#'bert-base-uncased'\n", + "mean_values = df_stats.mean()\n", + "df_stats1 = df_stats.append(mean_values, ignore_index=True)\n", + "display(df_stats1)\n", + "results_df1=result_text_similarity()\n", + "display(results_df1)" + ], + "metadata": { + "id": "ZGOv7BZXb8S5", + "outputId": "b2b590c2-511b-4c9b-db08-9e50ad19f5d8", + "colab": { + "base_uri": "https://localhost:8080/", + "height": 828 + } + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stderr", + "text": [ + ":2: FutureWarning: The default value of numeric_only in DataFrame.mean is deprecated. In a future version, it will default to False. In addition, specifying 'numeric_only=None' is deprecated. Select only valid columns or specify the value of numeric_only to silence this warning.\n", + " mean_values = df_stats.mean()\n", + ":3: FutureWarning: The frame.append method is deprecated and will be removed from pandas in a future version. Use pandas.concat instead.\n", + " df_stats1 = df_stats.append(mean_values, ignore_index=True)\n" + ] + }, + { + "output_type": "display_data", + "data": { + "text/plain": [ + " Training Loss Valid. Loss Training Time Validation Time\n", + "0 0.064515 0.048159 0:05:14 0:00:26\n", + "1 0.038462 0.039790 0:05:14 0:00:26\n", + "2 0.033050 0.036862 0:05:15 0:00:26\n", + "3 0.029987 0.035378 0:05:15 0:00:26\n", + "4 0.028567 0.034227 0:05:15 0:00:26\n", + "5 0.027342 0.033851 0:05:15 0:00:26\n", + "6 0.026512 0.033526 0:05:14 0:00:26\n", + "7 0.025844 0.033447 0:05:14 0:00:26\n", + "8 0.034285 0.036905 NaN NaN" + ], + "text/html": [ + "\n", + "
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',\n", + "'The objective of this project is to study the contribution of hemorrheology to arterial and venous thrombosis using the arterio-venous (A-V) fistula hemodialysis access loop graft as a model. Intraoperative measurement of geometry and flowrates will be made after completion of the brachial artery to cephalic vein A-V loop graft in patients with chronic renal failure. Follow-up measurements will be made when patient returns to the hospital for routine hemodialysis treatment (approximately 3 times a week). These measurements will include: 1) velocity profiles in the host artery using a transcutaneous range-gated ultrasonic Doppler velocimeter probe, 2) phonoangiographic recording of the \"thrill\" at the venous anastomosis using a precalibrated microphone. The signal recorded will be analyzed for the power spectral density function (PSDF) using a high-speed computer. 3) Thrombogenicity in the graft and host vein will be measured using 111 Indium labeled autologous platelets in patients with significantly altered PSDF from that of the control. 4) Platelet half-life will also be measured in these patients, using the same 111 Indium labeled autologous platelets. Based on the result of our preliminary animal study, we determined that an animal model using the common femoral artery to common femoral vein loop graft in dogs closely resembles the anatomy of the hemodialysis access loop graft in patients. Seventy-two femoral-to-femoral loop gragts will be constructed in 36 healthy, preconditioned male dogs. Six groups of six dogs each will be reoperated at intervals of 24 hrs, 5, 10, 25, 40, and 60 wks postoperatively to obtain 1) phonoangiographic recordings for PSDF, 2) velocity profiles at several sections in the host artery near the anastomosis, 3) physical properties of the host vessels and the graft, 4) detailed lumen geometry by RTV silicone rubber injection, 5) histopathologic examination of the graft and the host vessels include both anastomoses. Based on the animal data, a series of six to ten in vitro flow models will be fabricated using clear Silastic to represent the venous anastomosis at the various stages of occlusion development. The model will be installed in the pulsatile flow loop using a blood analog non-Newtonian fluid. Detailed study of flow patterns, structure of turbulence will be made using laser Doppler anemometer. The distributions of wall shear stress and Reynolds stress in the flow field will be correlated to the platelet deposition-thrombus formation and histopathological data obtained from patients and animal model.' ,\n", + "'arterial thoracic outlet syndrome',\n", + " 'A form of thoracic outlet syndrome that presents as unilateral upper extremity ischemia.',\n", + " 'HEMORRHEOLOGIC CONTRIBUTION TO THROMBOSIS',\n", + " #'my car is range rover',\n", + "#Inflation\n", + " 'During the tenure of the previous granting period we, as well as others, have demonstrated the presence of human papillomavirus (HPV) DNA in a variety of premalignant and malignant tumors from patients with wart disease syndromes.',\n", + "#Thus, the major objective of this continuing grant application is to determine the involvement, if any, of human papillomaviruses in the progression of certain chronic or recurring wart disease syndromes to the malignant phenotype.\n", + "'During the tenure of the previous granting period we, as well as others, have demonstrated the presence of human papillomavirus (HPV) DNA in a variety of premalignant and malignant tumors from patients with wart disease syndromes. Since the association of HPV DNA with several of these malignant tumors is now established, the most important issue becomes whether or not these viruses contribute to the malignant phenotype. Thus, the major objective of this continuing grant application is to determine the involvement, if any, of human papillomaviruses in the progression of certain chronic or recurring wart disease syndromes to the malignant phenotype. To this end our renewal application proposes to: 1) complete our nucleotide sequencing of the HPV DNA species that we have most consistently found associated with malignant tumors both primary and metastatic (i.e., HPV-5 DNA). We also plan to complete nucleotide sequence analysis of the pertinent regions of the subgenomic and recombinant forms of HPV DNA that we have isolated in an effort to determine the possible mechanism(s) by which these variant forms of HPV DNA are derived; 2) continue our comparative analysis of the expression of HPV in both benign and malignant tissues to determine the specific HPV genetic sequences that might be involved in malignant progression; 3) alternatively, we plan to employ genetic dissection and site-specific mutagenesis of papillomavirus DNA to identify directly those nucleotide sequences responsible for malignant progression by testing such genetically altered DNAs in a DNA transfection assay in vivo using an experimental rabbit model system that we have recently developed in our laboratory; 4) molecularly clone to expression the capsid proteins of HPV-5 with the ultimate objective of determining whether such proteins can reduce the incidence of wart disease in high risk patients and concommitantly reduce the rate of malignant progression; and 5) analyze HPV gene expression in normal skin cells to determine the nature of the HPV genetic sequences required for the maintenance of HPV DNA in these cells. The methodologies that we plan to employ to achieve these objectives are for the most part already implemented in our laboratory and include a variety of physiochemical, enzymological and filter hybridization techniques available for the analysis of DNA, RNA and protein including nucleotide sequence analysis. ',\n", + "\"antisynthetase syndrome\",\n", + "'A rare idiopathic inflammatory myopathy (IIM) characterized principally by myositis, generally symmetrical arthritis and interstitial lung disease (ILD) in association with serum autoantibodies to aminoacyl-transfer RNA synthetases (anti-ARS). More variable features include arthralgia, Raynaud phenomenon, heliotrophic rash, distal esophageal dysmotility and mechanics hands.' ,\n", + " 'HUMAN PAPILLOMAVIRUSES AND MALIGNANT DISEASE',\n", + "#common\n", + " 'The central goal of this project is to develop the potential of the recently made observation that there are antibody responses to thymic antigens specific for the dermatomyositis (DM) and polymyositis (PM) syndromes. ',\n", + " 'The central goal of this project is to develop the potential of the recently made observation that there are antibody responses to thymic antigens specific for the dermatomyositis (DM) and polymyositis (PM) syndromes. In the initial reports, these serological reactions utilized crude extracts of thymus tissue as antigen. Sixty percent of all patients with these diseases possess precipitating antibodies to these antigens. Recent studies with the indirect immunofluorescent technique utilizing human tissue culture lines reveal that at least 80 percent of the patients without precepitins have antibodies. Thus more than 90 percent of all patients with PM and DM have demonstrable humoral autoimmune responses. Purification of these antigens would permit the collection of several types of data which are of clinical, immunological, and biological interest. Clear resolution of the apparent heterogeneity of these reactions with purified antigens will make possible the quantitative assessment of humoral and cellular immune responses in patients. Knowledge of the existence of this humoral and cellular immunity will also permit an assessment of whether there are correlations between these immunological responses and disease activity, the presence or absence of tumor, or prognosis. ',\n", + "'polymyositis',\n", + " 'A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.' ,\n", + " 'DEFINITION OF AUTOIMMUNE RESPONSES IN POLYMYOSITIS' ]\n", + "labels = [sentences[:20] for sentences in sentences]\n", + "\n", + "\n", + "embeddings = model.encode(sentences, convert_to_tensor=True)\n", + "\n", + "similarity = []\n", + "for i in range(len(sentences)):\n", + " row = []\n", + " for j in range(len(sentences)):\n", + " row.append(util.pytorch_cos_sim(embeddings[i], embeddings[j]).item())\n", + " similarity.append(row)\n", + "\n", + "create_heatmap(similarity,labels)" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 1000, + "referenced_widgets": [ + "f5be273f7a924f41b78e8b64e2e3e505", + 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nvidia-cuda-nvrtc-cu12, nvidia-cuda-cupti-cu12, nvidia-cublas-cu12, nvidia-cusparse-cu12, nvidia-cudnn-cu12, nvidia-cusolver-cu12, sentence-transformers\n", + "Successfully installed nvidia-cublas-cu12-12.1.3.1 nvidia-cuda-cupti-cu12-12.1.105 nvidia-cuda-nvrtc-cu12-12.1.105 nvidia-cuda-runtime-cu12-12.1.105 nvidia-cudnn-cu12-8.9.2.26 nvidia-cufft-cu12-11.0.2.54 nvidia-curand-cu12-10.3.2.106 nvidia-cusolver-cu12-11.4.5.107 nvidia-cusparse-cu12-12.1.0.106 nvidia-nccl-cu12-2.19.3 nvidia-nvjitlink-cu12-12.4.99 nvidia-nvtx-cu12-12.1.105 sentence-transformers-2.5.1\n" + ] + }, + { + "output_type": "stream", + "name": "stderr", + "text": [ + "/usr/local/lib/python3.10/dist-packages/huggingface_hub/utils/_token.py:88: UserWarning: \n", + "The secret `HF_TOKEN` does not exist in your Colab secrets.\n", + "To authenticate with the Hugging Face Hub, create a token in your settings tab (https://huggingface.co/settings/tokens), set it as secret in your Google Colab and restart your session.\n", + "You will be able to reuse this secret in all of your notebooks.\n", + "Please note that authentication is recommended but still optional to access public models or datasets.\n", + " warnings.warn(\n" + ] + }, + { + "output_type": "display_data", + "data": { + "text/plain": [ + "modules.json: 0%| | 0.00/229 [00:00" + ], + "image/png": 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\n" + }, + "metadata": {} + } + ] + }, + { + "cell_type": "markdown", + "source": [ + "# Other methods" + ], + "metadata": { + "id": "mWaWK-8a1Zko" + } + }, + { + "cell_type": "code", + "source": [ + "AAA='''\n", + "A syndrome is a set of medical signs and symptoms which are correlated\n", + "with each other and often associated with a particular disease or\n", + "disorder.[1] The word derives from the Greek σύνδρομον, meaning\n", + " \"concurrence\".[2]: 1818  When a syndrome is paired with a\n", + " definite cause this becomes a disease.[3] In some instances,\n", + " a syndrome is so closely linked with a pathogenesis or cause\n", + " that the words syndrome, disease, and disorder end up being used\n", + " interchangeably for them. This substitution of terminology\n", + " often confuses the reality and meaning of medical diagnoses.[3]\n", + " This is especially true of inherited syndromes. About one\n", + " third of all phenotypes that are listed in OMIM are described as\n", + " dysmorphic, which usually refers to the facial gestalt.\n", + " For example, Down syndrome, Wolf–Hirschhorn syndrome,\n", + " and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the syndrome nomenclature. In other instances, a syndrome is not specific to only one disease. For example, toxic shock syndrome can be caused by various toxins; another medical syndrome named as premotor syndrome can be caused by various brain lesions; and premenstrual syndrome is not a disease but simply a set of symptoms.\n", + "If an underlying genetic cause is suspected but not known, a condition may be referred to as a genetic association (often just \"association\" in context). By definition, an association indicates that the collection of signs and symptoms occurs in combination more frequently than would be likely by chance alone.[2]: 167\n", + "If an underlying genetic cause is suspected but not known, a condition may be referred to as a genetic association (often just \"association\" in context). By definition, an association indicates that the collection of signs and symptoms occurs in combination more frequently than would be likely by chance alone.[2]: 167\n", + "Syndromes are often named after the physician or group of physicians that discovered them or initially described the full clinical picture. Such eponymous syndrome names are examples of medical eponyms. Recently, there has been a shift towards naming conditions descriptively (by symptoms or underlying cause) rather than eponymously, but the eponymous syndrome names often persist in common usage.\n", + "Syndromes are often named after the physician or group of physicians that discovered them or initially described the full clinical picture. Such eponymous syndrome names are examples of medical eponyms. Recently, there has been a shift towards naming conditions descriptively (by symptoms or underlying cause) rather than eponymously, but the eponymous syndrome names often persist in common usage.\n", + "Syndromes are often named after the physician or group of physicians that discovered them or initially described the full clinical picture. Such eponymous syndrome names are examples of medical eponyms. Recently, there has been a shift towards naming conditions descriptively (by symptoms or underlying cause) rather than eponymously, but the eponymous syndrome names often persist in common usage.\n", + "Syndromes are often named after the physician or group of physicians that discovered them or initially described the full clinical picture. Such eponymous syndrome names are examples of medical eponyms. Recently, there has been a shift towards naming conditions descriptively (by symptoms or underlying cause) rather than eponymously, but the eponymous syndrome names often persist in common usage.\n", + "\n", + "'''\n", + "BBB= 'A woman is peeling potato.'\n", + "sentence_pair=[AAA,BBB]\n", + "\n", + "def count_tokens(text):\n", + " # Tokenize the text\n", + " tokens = text.split() # Assuming space-separated tokens\n", + " # Count the number of tokens\n", + " num_tokens = len(tokens)\n", + " return num_tokens\n", + "count_tokens(AAA)" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "SXcYVNrjZRrJ", + "outputId": "d8b82aee-4371-468a-ca8d-f4d3a5044a03" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "execute_result", + "data": { + "text/plain": [ + "530" + ] + }, + "metadata": {}, + "execution_count": 189 + } + ] + }, + { + "cell_type": "code", + "source": [ + "def predict_similarity(sentence_pair, max_length=512):\n", + " # Tokenize the first sentence (a)\n", + " test_input_a = tokenizer(sentence_pair[1], padding=True, truncation=False,return_tensors=\"pt\").to(device)\n", + " test_input_a['input_ids'] = test_input_a['input_ids']\n", + " test_input_a['attention_mask'] = test_input_a['attention_mask']\n", + " del test_input_a['token_type_ids']\n", + " output_a = model(test_input_a)\n", + " # Check if the length of the second sentence (b) exceeds max_length\n", + " if len(sentence_pair[0]) > max_length:\n", + " # Chunk the second sentence (b)\n", + " chunks = [sentence_pair[0][i:i+max_length] for i in range(0, len(sentence_pair[1]), max_length)]\n", + "\n", + " # Initialize lists to store outputs\n", + " outputs = []\n", + "\n", + " # Process each chunk\n", + " for chunk in chunks:\n", + " # Tokenize the chunk\n", + " test_input_b = tokenizer(chunk, padding=True, truncation=False, return_tensors=\"pt\").to(device)\n", + " test_input_b['input_ids'] = test_input_b['input_ids']\n", + " test_input_b['attention_mask'] = test_input_b['attention_mask']\n", + " del test_input_b['token_type_ids']\n", + " output = model(test_input_b)\n", + " outputs.append(output)\n", + "\n", + " # Concatenate outputs from all chunks along the batch dimension\n", + " output_b = torch.cat(outputs, dim=0)\n", + " else:\n", + " # Tokenize the second sentence (b)\n", + " test_input_b = tokenizer(sentence_pair[1], padding='max_length', max_length=max_length, truncation=True, return_tensors=\"pt\").to(device)\n", + " test_input_b['input_ids'] = test_input_b['input_ids']\n", + " test_input_b['attention_mask'] = test_input_b['attention_mask']\n", + " del test_input_b['token_type_ids']\n", + " output_b = model(test_input_b)\n", + "\n", + " # Calculate the cosine similarity between the outputs\n", + " sim = torch.nn.functional.cosine_similarity(output_a, output_b, dim=0).item()\n", + " return sim\n", + "\n", + "#predict_similarity(sentence_pair)" + ], + "metadata": { + "id": "eiy6DVzxnz45" + }, + "execution_count": null, + "outputs": [] + } + ] +} \ No newline at end of file diff --git a/RDAS_GFKG/OrphanMap/GARD_master_disease_list (1).csv b/RDAS_GFKG/OrphanMap/GARD_master_disease_list (1).csv new file mode 100644 index 0000000..e8f5f29 --- /dev/null +++ b/RDAS_GFKG/OrphanMap/GARD_master_disease_list (1).csv @@ -0,0 +1,16040 @@ +GardID,GardIDStatus,DataSource,SourceID,ClassificationLevel,DisorderType,SourceName,SourceSynonym,SourceDescription,OmimMember,ParentOrphaCode,ParentOrphaName,ParentGardID,RdRequestID,GardLegacy_DiseaseName,GardLegacy_GARDisRare,GardLegacy_isSpanish,GardLegacy_StatusName +GARD:1,Active,Orphanet,ORPHA:53693,Disorder,[Disease],GRACILE syndrome,"[Fellman disease, Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome]","An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).",[603358],,,,,GRACILE syndrome,TRUE,FALSE,Active +GARD:10000,Active,Orphanet,ORPHA:94124,Disorder,[Disease],Spinocerebellar ataxia with axonal neuropathy type 1,[SCAN1],"Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.",[607250],,,,,Spinocerebellar ataxia with axonal neuropathy type 1,TRUE,FALSE,Active +GARD:10001,Active,Orphanet,ORPHA:53689,Disorder,[Disease],Congenital chloride diarrhea,,"A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and metabolic alkalosis, resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops.",[214700],,,,,Congenital chloride diarrhea,TRUE,FALSE,Active +GARD:10002,Legacy,GARD,,,,,,,,,,,,BOR-Duane hydrocephalus contiguous gene syndrome,TRUE,FALSE,Active +GARD:10003,Legacy,GARD,,,,,,,,,,,,"Pachygyria, frontotemporal",TRUE,FALSE,Active +GARD:10004,Legacy,GARD,,,,,,,,,,,,"Frontotemporal dementia, ubiquitin-positive",TRUE,FALSE,Active +GARD:10005,Active,Orphanet,ORPHA:871,Disorder,[Disease],Familial progressive cardiac conduction defect,"[Familial Lenègre disease, Familial Lev disease, Familial Lev-Lenègre disease, Familial PCCD, Familial progressive heart block, Hereditary bundle branch defect]","A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.","[604559, 113900, 140400, 115080, 612838]",,,,,Familial progressive cardiac conduction defect,TRUE,FALSE,Active +GARD:10006,Legacy,GARD,,,,,,,,,,,,Brenner tumor of the vagina,TRUE,FALSE,Active +GARD:10007,Active,Orphanet+OMIM,OMIM:300310,Subtype of disorder,[Clinical subtype],Immunodeficiency 61,"[Agammaglobulinemia, x-linked, type 2, xla2]","Immunodeficiency-61 (IMD61) is an X-linked recessive primary immunodeficiency characterized by onset of recurrent infections in early childhood due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production (summary by {1:Keller et al., 2018}).\n\nFor a general phenotypic description of X-linked agammaglobulinemia, see {300755}.",[300310],[47],[X-linked agammaglobulinemia],[1033],,Agammaglobulinemia X-linked type 2,TRUE,FALSE,Active +GARD:10008,Legacy,GARD,,,,,,,,,,,,Colpocephaly,TRUE,FALSE,Active +GARD:10009,Active,Orphanet,ORPHA:1183,Disorder,[Disease],Opsoclonus-myoclonus syndrome,"[Ataxo-opso-myoclonus syndrome, Dancing eye syndrome, Dancing eye-dancing feet syndrome, Kinsbourne syndrome, OMA syndrome, OMS, Opsoclonus-myoclonus-ataxia syndrome, POMA syndrome, Paraneoplastic opsoclonus-myoclonus, Paraneoplastic opsoclonus-myoclonus-ataxia syndrome]","Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.",,,,,,Opsoclonus-myoclonus syndrome,TRUE,FALSE,Active +GARD:1001,Legacy,GARD,,,,,,,,,,,,Branchial arch defects,TRUE,FALSE,Active +GARD:10010,Active,Orphanet,ORPHA:79411,Disorder,[Disease],Self-improving dystrophic epidermolysis bullosa,"[Self-improving DEB, Transient bullous dermolysis of the newborn]",A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.,[131705],,,,,Transient bullous dermolysis of the newborn,TRUE,FALSE,Active +GARD:10011,Active,Orphanet,ORPHA:83617,Disorder,[Malformation syndrome],Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome,,"A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.",[610483],,,,,"Agammaglobulinemia, microcephaly, and severe dermatitis",TRUE,FALSE,Active +GARD:10012,Active,Orphanet,ORPHA:85164,Disorder,[Disease],Camptodactyly-tall stature-scoliosis-hearing loss syndrome,"[CATSHL syndrome, Camptodactyly-tall stature-scoliosis-deafness syndrome]","Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.",[610474],,,,,"Camptodactyly, tall stature, and hearing loss syndrome",TRUE,FALSE,Active +GARD:10013,Legacy,GARD,,,,,,,,,,,,Red cell phospholipid defect with hemolysis,TRUE,FALSE,Active +GARD:10014,Active,Orphanet,ORPHA:97352,Disorder,[Disease],Pellagra,,"Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.",,,,,,Pellagra,TRUE,FALSE,Active +GARD:10016,Legacy,GARD,,,,,,,,,,,,Priapism,TRUE,FALSE,Active +GARD:10018,Active,Orphanet,ORPHA:98974,Disorder,[Disease],Fuchs endothelial corneal dystrophy,"[Endoepithelial corneal dystrophy, FECD, Late hereditary endothelial dystrophy]","A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.","[613270, 613267, 613271, 136800, 613268, 610158, 615523, 613269]",,,,,Fuchs endothelial corneal dystrophy,FALSE,FALSE,Active +GARD:10019,Legacy,GARD,,,,,,,,,,,,Corneal dystrophy Fuchs endothelial 2,FALSE,FALSE,Retired +GARD:1002,Active,Orphanet,ORPHA:1131,Disorder,[Malformation syndrome],X-linked mandibulofacial dysostosis,"[Mandibulofacial dysostosis, Toriello type, X-linked branchial arch syndrome, X-linked mandibulofacial dysostosis with limb anomalies]","X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.",[301950],,,,,Branchial arch syndrome X-linked,TRUE,FALSE,Active +GARD:10022,Legacy,GARD,,,,,,,,,,,,"Vagina, absence of",TRUE,FALSE,Active +GARD:10023,Active,Orphanet+OMIM,OMIM:609220,Subtype of disorder,[Malformation syndrome subtype],Bruck syndrome 2,[Osteogenesis imperfecta with congenital joint contractures],,[609220],[2771],[Bruck syndrome],[1029],,Bruck syndrome 2,TRUE,FALSE,Active +GARD:10024,Active,Orphanet+OMIM,OMIM:277720,Subtype of disorder,[Malformation syndrome subtype],"Whistling face syndrome, recessive form",,"Whistling face syndrome is characterized by an atypical facial appearance with anomalies of the hands and feet. Most cases show autosomal dominant inheritance: see distal arthrogryposis 2A (DA2A; {193700}). There are rare reports of presumably autosomal recessive inheritance (summary by {1:Altunhan et al., 2010}).",[277720],[2053],[Freeman-Sheldon syndrome],[6466],,"Whistling face syndrome, recessive form",TRUE,FALSE,Active +GARD:10025,Active,Orphanet,ORPHA:88632,Group of disorders,[Category],Anterior segment developmental anomaly,[Anterior segment dysgenesis],,"[107250, 617315, 617319]",,,,,Anterior segment dysgenesis,TRUE,FALSE,Active +GARD:10026,Legacy,GARD,,,,,,,,,,,,Piriformis syndrome,TRUE,FALSE,Active +GARD:10027,Active,Orphanet,ORPHA:140,Disorder,[Malformation syndrome],Campomelic dysplasia,[Campomelic dwarfism],"A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype.","[602196, 211990, 114290]",,,,,Campomelic dysplasia,TRUE,FALSE,Active +GARD:10028,Active,Orphanet,ORPHA:99960,Subtype of disorder,[Clinical subtype],Benign recurrent intrahepatic cholestasis type 1,"[BRIC type 1, BRIC1]",,[243300],,,,,Benign recurrent intrahepatic cholestasis 1,TRUE,FALSE,Active +GARD:10029,Active,Orphanet,ORPHA:99961,Subtype of disorder,[Clinical subtype],Benign recurrent intrahepatic cholestasis type 2,"[BRIC type 2, BRIC2]",,[605479],,,,,Benign recurrent intrahepatic cholestasis 2,TRUE,FALSE,Active +GARD:10030,Legacy,GARD,,,,,,,,,,,,Hemorrhagic shock and encephalopathy syndrome,TRUE,FALSE,Active +GARD:10031,Legacy,GARD,,,,,,,,,,,,"Sebaceous gland hyperplasia, familial presenile",TRUE,FALSE,Active +GARD:10032,Legacy,GARD,,,,,,,,,,,,"Presenile dementia, Kraepelin type",TRUE,FALSE,Active +GARD:10033,Active,Orphanet+OMIM,OMIM:608542,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 2",,"Intracranial berry aneurysms are saccular outpouchings of the intracranial arteries, most commonly at arterial bifurcations, characterized by arterial wall remodeling. Most cases of ruptured intracranial berry aneurysms result in a subarachnoid hemorrhage, associated with high morbidity and mortality (summary by {2:van der Voet et al., 2004}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[608542],[231160],[Familial cerebral saccular aneurysm],[17161],,"Aneurysm, intracranial berry, 2",TRUE,FALSE,Active +GARD:10034,Active,Orphanet,ORPHA:231013,Disorder,[Disease],Congenital trigeminal anesthesia,,"Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).",[122450],,,,,"Corneal hypesthesia, familial",TRUE,FALSE,Active +GARD:10035,Legacy,GARD,,,,,,,,,,,,Developmental prosopagnosia,TRUE,FALSE,Active +GARD:10036,Legacy,GARD,,,,,,,,,,,,Autosomal dominant compelling helio ophthalmic outburst syndrome,TRUE,FALSE,Active +GARD:10037,Active,Orphanet,ORPHA:85110,Disorder,[Disease],Familial encephalopathy with neuroserpin inclusion bodies,[FENIB],"A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies).",[604218],,,,,Familial encephalopathy with neuroserpin inclusion bodies,TRUE,FALSE,Active +GARD:10038,Legacy,GARD,,,,,,,,,,,,Pleomorphic malignant fibrous histiocytoma,TRUE,FALSE,Retired +GARD:10039,Active,Orphanet,ORPHA:79155,Disorder,[Disease],Hydroxykynureninuria,"[Kynureninase deficiency, Xanthurenic aciduria]","A rare, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable, ranging from asymptomatic or mild cases presentating with jaundice and vomiting, with subsequent normal development and growth, to more severe cases with manifestions which include intellectual disability, cerebellar ataxia, pellagra, progressive encephalopathy with muscular hypotonia, global developmental delay, stereotyped gestures and/or congenital deafness.",[236800],,,,,Hydroxykynureninuria,TRUE,FALSE,Active +GARD:1004,Legacy,GARD,,,,,,,,,,,,Oculootofacial dysplasia,TRUE,FALSE,Retired +GARD:10040,Legacy,GARD,,,,,,,,,,,,Potato nose,TRUE,FALSE,Active +GARD:10041,Active,Orphanet,ORPHA:1200,Disorder,[Malformation syndrome],Burn-McKeown syndrome,[Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome],"A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.","[608572, 616462]",,,,,Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome,TRUE,FALSE,Active +GARD:10043,Active,Orphanet+OMIM,OMIM:602083,Subtype of disorder,[Clinical subtype],"Usher syndrome, type if",,Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Phenotypic distinctions are based on auditory and vestibular differences. Persons with forms of Usher syndrome type I ({276900}) have congenital severe to profound hearing loss and vestibular dysfunction.,[602083],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1F",TRUE,FALSE,Active +GARD:10044,Legacy,GARD,,,,,,,,,,,,Posterior column ataxia,TRUE,FALSE,Active +GARD:10045,Active,Orphanet,ORPHA:79303,Disorder,[Disease],Congenital bile acid synthesis defect type 2,"[BASD2, Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency]","Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.",[235555],,,,,"Congenital bile acid synthesis defect, type 2",TRUE,FALSE,Active +GARD:10046,Active,Orphanet,ORPHA:79095,Disorder,[Disease],Congenital bile acid synthesis defect type 4,"[2-methylacyl-CoA racemase deficiency, AMACR deficiency, Alpha-methyl-acyl-CoA racemase deficiency, BASD4, Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome]","Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.","[614307, 214950]",,,,,"Bile acid synthesis defect, congenital, 4",TRUE,FALSE,Active +GARD:10047,Active,Orphanet,ORPHA:32,Disorder,[Disease],Glutathione synthetase deficiency,[Pyroglutamicaciduria],"A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.","[266130, 231900]",,,,,Glutathione synthetase deficiency,TRUE,FALSE,Active +GARD:10048,Active,Orphanet,ORPHA:79143,Disorder,[Disease],Isolated congenital anonychia,[Isolated anonychia],"Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.","[107000, 206800, 614149]",,,,,Anonychia congenita,TRUE,FALSE,Retired +GARD:10049,Active,Orphanet,ORPHA:75377,Disorder,[Disease],Central areolar choroidal dystrophy,"[Areolar atrophy of the macula, CACD, Central areolar choroidal sclerosis]","A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.","[215500, 613144, 613105]",,,,,Choroidal dystrophy central areolar,TRUE,FALSE,Active +GARD:10050,Active,Orphanet,ORPHA:41751,Disorder,[Disease],Bietti crystalline dystrophy,"[BCD, Bietti crystalline corneoretinal dystrophy, Bietti crystalline retinopathy]","Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.",[210370],,,,,Bietti crystalline corneoretinal dystrophy,TRUE,FALSE,Active +GARD:10051,Active,Orphanet,ORPHA:69085,Disorder,[Malformation syndrome],Limb-mammary syndrome,[LMS],"A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present.",[603543],,,,,Limb-mammary syndrome,TRUE,FALSE,Active +GARD:10052,Legacy,GARD,,,,,,,,,,,,Devriendt syndrome,TRUE,FALSE,Active +GARD:10053,Active,Orphanet,ORPHA:268835,Disorder,[Morphological anomaly],Lipomyelomeningocele,,"Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.",,,,,,Lipomyelomeningocele,TRUE,FALSE,Active +GARD:10054,Active,Orphanet,ORPHA:2725,Disorder,[Malformation syndrome],Eye defects-arachnodactyly-cardiopathy syndrome,"[Al Gazali-Al Talabani syndrome, Al Gazali-Lytle syndrome]","A rare genetic bone development disorder characterized by pre- and postnatal growth retardation, skeletal anomalies such as arachnodactyly and bilateral talipes equinovarus, joint contractures with camptodactyly, dysmorphic facial features (including midface hypoplasia or micrognathia), and abnormalities of the anterior segment of the eye. Skeletal imaging may show diffuse osteopenia and multiple fractures. The syndrome is lethal within the first year of life.",[609465],,,,,Al Gazali syndrome,TRUE,FALSE,Active +GARD:10055,Legacy,GARD,,,,,,,,,,,,"Holoprosencephaly, recurrent infections, and monocytosis",TRUE,FALSE,Active +GARD:10056,Active,Orphanet,ORPHA:79113,Disorder,[Malformation syndrome],Mandibulofacial dysostosis-microcephaly syndrome,"[MFDM syndrome, Mandibulofacial dysostosis, Guion-Almeida type]","A rare genetic, multiple congenital malformation syndrome characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism (with significantly overlap to Treacher Collins syndrome), developmental delay, and intellectual disability.",[610536],,,,,Mandibulofacial dysostosis with microcephaly,TRUE,FALSE,Active +GARD:10057,Active,Orphanet,ORPHA:168454,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Geneviève type","[SEMD, Geneviève type, SEMDG]","Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.",[610442],,,,,Spondyloepimetaphyseal dysplasia Genevieve type,TRUE,FALSE,Active +GARD:10058,Legacy,GARD,,,,,,,,,,,,Iridogoniodysgenesis and skeletal anomalies,TRUE,FALSE,Active +GARD:10059,Legacy,GARD,,,,,,,,,,,,Dystelephalangy,TRUE,FALSE,Active +GARD:10061,Active,Orphanet,ORPHA:50809,Disorder,[Malformation syndrome],Talo-patello-scaphoid osteolysis,[Singh-Williams-McAlister syndrome],"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.",[609655],,,,,"Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals",TRUE,FALSE,Active +GARD:10062,Legacy,GARD,,,,,,,,,,,,Talonavicular coalition,TRUE,FALSE,Active +GARD:10063,Legacy,GARD,,,,,,,,,,,,"Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss",TRUE,FALSE,Active +GARD:10064,Legacy,GARD,,,,,,,,,,,,"Mental retardation, keratoconus, febrile seizures, and sinoatrial block",TRUE,FALSE,Retired +GARD:10065,Legacy,GARD,,,,,,,,,,,,"Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema",TRUE,FALSE,Active +GARD:10066,Active,Orphanet,ORPHA:498485,Disorder,[Malformation syndrome],Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome,,"A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.",[608811],,,,,"Metaphyseal undermodeling, spondylar dysplasia, and overgrowth",TRUE,FALSE,Active +GARD:10067,Legacy,GARD,,,,,,,,,,,,"Lateral semicircular canal malformation, familial, with external and middle ear abnormalities",TRUE,FALSE,Active +GARD:10068,Legacy,GARD,,,,,,,,,,,,"Taurodontism, microdontia, and dens invaginatus",TRUE,FALSE,Active +GARD:10069,Legacy,GARD,,,,,,,,,,,,Dens in dente and palatal invaginations,TRUE,FALSE,Active +GARD:10070,Active,Orphanet,ORPHA:251639,Disorder,[Disease],Subependymoma,,"Subependymoma is a rare and slow growing type of ependymoma (see this term), often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.",,,,,,Subependymoma,TRUE,FALSE,Active +GARD:10071,Legacy,GARD,,,,,,,,,,,,Pulmonic stenosis,TRUE,FALSE,Active +GARD:10072,Active,Orphanet,ORPHA:85182,Disorder,[Disease],Diaphyseal medullary stenosis-bone malignancy syndrome,"[Bone dysplasia-medullary fibrosarcoma syndrome, Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome, Hardcastle syndrome]","Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).",[112250],,,,,Diaphyseal medullary stenosis with malignant fibrous histiocytoma,TRUE,FALSE,Active +GARD:10073,Legacy,GARD,,,,,,,,,,,,Cerebral sarcoma,TRUE,FALSE,Active +GARD:10074,Legacy,GARD,,,,,,,,,,,,Abderhalden Kaufmann Lignac syndrome,TRUE,FALSE,Retired +GARD:10075,Active,Orphanet+OMIM,OMIM:601230,Subtype of disorder,[Disease subtype],"Dermatitis herpetiformis, familial",[Dh],"Dermatitis herpetiformis (DH) and celiac disease (CD; {212750}) are gluten-sensitive diseases. In classic CD the small intestine is predominantly affected, whereas in DH the skin is also affected, showing typical rash and IgA deposits.\n\n{3:Reunala (1996)} reported on the familial incidence of DH in a prospective study started in 1969 in Finland. A total of 1,018 patients with DH were diagnosed and questioned for positive family histories. Of the 999 unrelated DH patients, 105 (10.5%) had 1 or several affected first-degree relatives. Disease in the relatives was either DH (4.4%) or CD (6.1%). Analysis of the 105 families showed that 13.6% of parents, 18.7% of sibs, and 14% of children were affected, a segregation pattern that fitted well to a mendelian dominant mode of inheritance. Gender may also be important because the first-degree relatives affected with DH were more often females and those affected with CD twice as often females as males.\n\nDH and CD have a common immunogenetic background; both disorders are associated with HLA alleles DQA1*0501 (see {146880}) and B1*0201 (see {142857}). {1:Karell et al. (2002)} evaluated the role of the HLA-DQ locus in 25 families in which both classic CD and DH occurred in sibs. By using a family-based approach, they assumed that within each family, variation in environmental factors was substantially lower than in the standard case-control setting, and that the problems related to population stratification could be avoided. Results from Finnish family material comprising 25 discordant and 85 concordant sib pairs, and from case-control material comprising 71 unrelated Hungarian DH and 68 classic CD patients, together indicated that the HLA-DQ locus did not differ between the 2 major outcomes of gluten-sensitive enteropathy. The authors concluded that non-HLA-DR;DQ factors are crucial for the different clinical manifestations of gluten sensitivity.\n\nUsing ELISA, {4:Sardy et al. (2002)} found that sera from both CD and DH reacted with tissue transglutaminase (TGM2; {190196}) and epidermal transglutaminase (TGM3; {600238}), but the DH antibodies had a markedly higher avidity for TGM3. Immunofluorescence and confocal microscopy demonstrated that IgA precipitates in the papillary dermis of DH patients contained TGM3, but not keratinocyte transglutaminase (TGM1; {190195}) or TGM2. {4:Sardy et al. (2002)} concluded that TGM3 is the dominant autoantigen in DH, explaining why skin symptoms rather than intestinal symptoms appear in a proportion of patients with gluten-sensitive disease.",[601230],[1656],[Dermatitis herpetiformis],[1917],,Dermatitis herpetiformis familial,TRUE,FALSE,Retired +GARD:10076,Legacy,GARD,,,,,,,,,,,,"Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia",TRUE,FALSE,Active +GARD:10077,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia acromesomelic with genital anomalies,TRUE,FALSE,Active +GARD:10078,Legacy,GARD,,,,,,,,,,,,Crumpled helices and small mouth,TRUE,FALSE,Active +GARD:10079,Legacy,GARD,,,,,,,,,,,,"Hydroa vacciniforme, familial",TRUE,FALSE,Active +GARD:10080,Legacy,GARD,,,,,,,,,,,,Catatrichy,TRUE,FALSE,Active +GARD:10081,Active,Orphanet,ORPHA:2475,Disorder,[Malformation syndrome],White forelock with malformations,,"White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.",[277740],,,,,White forelock with malformations,TRUE,FALSE,Active +GARD:10082,Active,Orphanet,ORPHA:85179,Disorder,[Malformation syndrome],Infantile osteopetrosis with neuroaxonal dysplasia,,"This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.","[259720, 600329]",,,,,Osteopetrosis and infantile neuroaxonal dystrophy,TRUE,FALSE,Active +GARD:10083,Active,Orphanet,ORPHA:79124,Disorder,[Disease],Hepatic veno-occlusive disease-immunodeficiency syndrome,[VODI syndrome],"A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.",[235550],,,,,Hepatic venoocclusive disease with immunodeficiency,TRUE,FALSE,Active +GARD:10084,Active,Orphanet,ORPHA:141148,Disorder,[Malformation syndrome],Hemifacial myohyperplasia,,"Hemifacial myohyperplasia is a rare developmental defect during embryogenesis characterized by unilateral hyperplasia of the facial musculature with no evidence of hyperplasia of bone or other organ systems. It clinically present with dimpling of the skin, ptosis, enophthalmos, narrow palpebral fissure, auricular displacement, smaller nasal vestibule, and nasal and chin deviation on the affected side. Facial paresis of the affected side and mild ipsilateral hypoplasia of the facial skeleton might be present.",[606773],,,,,Hemifacial myohyperplasia,TRUE,FALSE,Active +GARD:10085,Legacy,GARD,,,,,,,,,,,,Klebsiella infection,TRUE,FALSE,Active +GARD:10086,Legacy,GARD,,,,,,,,,,,,"Neuropathy, congenital, with arthrogryposis multiplex",TRUE,FALSE,Active +GARD:10087,Legacy,GARD,,,,,,,,,,,,"Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies",TRUE,FALSE,Active +GARD:10088,Active,Orphanet,ORPHA:77297,Disorder,[Disease],Majeed syndrome,[Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome],"Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.",[609628],,,,,Majeed syndrome,TRUE,FALSE,Active +GARD:10089,Active,Orphanet,ORPHA:2886,Disorder,[Malformation syndrome],TARP syndrome,"[Pierre Robin sequence-congenital heart defect-talipes syndrome, Pierre Robin syndrome-congenital heart defect-talipes syndrome, Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome]","TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.",[311900],,,,,TARP syndrome,TRUE,FALSE,Active +GARD:10090,Active,Orphanet+OMIM,OMIM:602196,Subtype of disorder,[Malformation syndrome subtype],Pierre robin sequence with pectus excavatum and rib and scapular anomalies,"[Skeletal dysplasia related to campomelic dysplasia, campomelic dysplasia, mild]",,[602196],[140],[Campomelic dysplasia],[10027],,Pierre Robin sequence with pectus excavatum and rib and scapular anomalies,TRUE,FALSE,Active +GARD:10091,Active,Orphanet,ORPHA:821,Disorder,[Disease],Sotos syndrome,[Cerebral gigantism],"A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment.","[117550, 617169]",,,,,Sotos syndrome,TRUE,FALSE,Active +GARD:10092,Active,Orphanet,ORPHA:79230,Disorder,[Disease],Hemochromatosis type 2,[Juvenile hemochromatosis],"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.","[602390, 613313]",,,,,Hemochromatosis type 2,TRUE,FALSE,Active +GARD:10093,Active,Orphanet,ORPHA:225123,Disorder,[Disease],Hemochromatosis type 3,[TFR2-related hemochromatosis],"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.",[604250],,,,,Hemochromatosis type 3,TRUE,FALSE,Active +GARD:10094,Active,Orphanet,ORPHA:139491,Disorder,[Disease],Hemochromatosis type 4,"[Autosomal dominant hereditary hemochromatosis, Ferroportin disease, Hemochromatosis due to defect in ferroportin]","Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.",[606069],,,,,Hemochromatosis type 4,TRUE,FALSE,Active +GARD:10095,Active,Orphanet+OMIM,OMIM:602481,Subtype of disorder,[Disease subtype],"Migraine, familial hemiplegic, 2",[Mhp2],,[602481],[569],[Familial or sporadic hemiplegic migraine],[10768],,Familial hemiplegic migraine type 2,TRUE,FALSE,Retired +GARD:10096,Active,Orphanet,ORPHA:523,Disorder,[Disease],Hereditary leiomyomatosis and renal cell cancer,"[Familial leiomyomatosis and renal cell cancer, Familial leiomyomatosis cutis et uteri, Familial leiomyomatosis with renal carcinoma, Familial multiple cutaneous leiomyomas, HLRCC, Hereditary leiomyomatosis, Hereditary leiomyomatosis with renal carcinoma, Hereditary multiple cutaneous leiomyomas, MCUL, Multiple cutaneous and uterine leiomyomas, Reed syndrome]","Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.",[150800],,,,,Hereditary leiomyomatosis and renal cell cancer,TRUE,FALSE,Active +GARD:10097,Active,Orphanet+OMIM,OMIM:150700,Subtype of disorder,[Clinical subtype],Leiomyoma of vulva and esophagus,"[Leiomyomatosis, esophagogastric and vulvar]",,[150700],[1018],[X-linked Alport syndrome-diffuse leiomyomatosis],[2432],,Leiomyoma of vulva and esophagus,TRUE,FALSE,Active +GARD:10098,Legacy,GARD,,,,,,,,,,,,Trichorrhexis nodosa syndrome,TRUE,FALSE,Retired +GARD:10099,Active,Orphanet,ORPHA:33573,Disorder,[Disease],Gamma-glutamyl transpeptidase deficiency,"[Gamma-glutamyl transferase deficiency, Glutathionuria]",A disorder that is characterized by increased glutathione concentration in the plasma and urine.,[231950],,,,,Glutathionuria,TRUE,FALSE,Active +GARD:101,Active,Orphanet,ORPHA:595,Group of disorders,[Clinical group],Centronuclear myopathy,[CNM],A rare group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The clinical picture and other histologic features varies according to gene involved and mode of inheritance.,,,,,,Centronuclear myopathy,TRUE,FALSE,Active +GARD:10100,Legacy,GARD,,,,,,,,,,,,Tietze syndrome,TRUE,FALSE,Active +GARD:10101,Active,Orphanet,ORPHA:168443,Disorder,[Disease],Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome,,"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.",[183849],,,,,Spondyloepimetaphyseal dysplasia with hypotrichosis,TRUE,FALSE,Active +GARD:10102,Legacy,GARD,,,,,,,,,,,,"Ehlers-Danlos syndrome, Beasley Cohen type",TRUE,FALSE,Retired +GARD:10103,Active,Orphanet,ORPHA:79148,Disorder,[Disease],Elastosis perforans serpiginosa,,"A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.",[130100],,,,,Elastosis perforans serpiginosa,TRUE,FALSE,Active +GARD:10104,Active,Orphanet+OMIM,OMIM:177850,Subtype of disorder,[Disease subtype],"Pseudoxanthoma elasticum, forme fruste",,,[177850],[758],[Pseudoxanthoma elasticum],[9643],,"Pseudoxanthoma elasticum, forme fruste",TRUE,FALSE,Active +GARD:10106,Active,Orphanet,ORPHA:178389,Disorder,[Disease],Osteopetrosis-hypogammaglobulinemia syndrome,"[Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia, Autosomal recessive osteopetrosis type 7]","Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.",[612301],,,,,Osteopetrosis autosomal recessive 7,TRUE,FALSE,Active +GARD:10107,Legacy,GARD,,,,,,,,,,,,Tetralogy of fallot and glaucoma,TRUE,FALSE,Active +GARD:10108,Active,Orphanet+OMIM,OMIM:608931,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency","[myasthenia, familial infantile, 1, formerly, cms id, formerly, Myasthenic syndrome, congenital, type id]","Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG ({100730}) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by {7:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[608931],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,Congenital myasthenic syndrome associated with acetylcholine receptor deficiency,TRUE,FALSE,Active +GARD:10109,Active,Orphanet,ORPHA:199,Disorder,[Malformation syndrome],Cornelia de Lange syndrome,[Brachmann-de Lange syndrome],"A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present.","[610759, 614701, 300590, 122470, 300882]",,,,,Cornelia de Lange syndrome,TRUE,FALSE,Active +GARD:10111,Active,Orphanet+OMIM,OMIM:161800,Subtype of disorder,[Disease subtype],Nemaline myopathy 3,,"Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles ({17:Ilkovski et al., 2001}). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease ({31:North et al., 1997}; {53:Wallgren-Pettersson et al., 1999}; {37:Ryan et al., 2001}; {38:Sanoudou and Beggs, 2001}). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease ({53:Wallgren-Pettersson et al., 1999}; {38:Sanoudou and Beggs, 2001}).\n\nMyopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors ({32:Nowak et al., 1999}; {23:Kaindl et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Nemaline Myopathy\n\nSee also NEM1 ({609284}), caused by mutation in the tropomyosin-3 gene (TPM3; {191030}) on chromosome 1q22; NEM2 ({256030}), caused by mutation in the nebulin gene (NEB; {161650}) on chromosome 2q23; NEM4 ({609285}), caused by mutation in the beta-tropomyosin gene (TPM2; {190990}) on chromosome 9p13; NEM5 ({605355}), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1; {191041}) on chromosome 19q13; NEM6 ({609273}), caused by mutation in the KBTBD13 gene ({613727}) on chromosome 15q22; NEM7 ({610687}), caused by mutation in the cofilin-2 gene (CFL2; {601443}) on chromosome 14q13; NEM8 ({615348}), caused by mutation in the KLHL40 gene ({615340}), on chromosome 3p22; NEM9 ({615731}), caused by mutation in the KLHL41 gene ({607701}) on chromosome 2q31; NEM10 ({616165}), caused by mutation in the LMOD3 gene ({616112}) on chromosome 3p14; and NEM11 ({617336}), caused by mutation in the MYPN gene ({608517}) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments ({38:Sanoudou and Beggs, 2001}).\n\nMutations in the NEB gene are the most common cause of nemaline myopathy ({25:Lehtokari et al., 2006}).",[161800],"[171436, 171433, 171430, 171439]","[Severe congenital nemaline myopathy, Typical nemaline myopathy, Intermediate nemaline myopathy, Childhood-onset nemaline myopathy]","[12821, 12822, 12823, 7171]",,Nemaline myopathy 3,TRUE,FALSE,Retired +GARD:10112,Legacy,GARD,,,,,,,,,,,,Nemaline myopathy 4,TRUE,FALSE,Retired +GARD:10114,Legacy,GARD,,,,,,,,,,,,Nemaline myopathy 6,TRUE,FALSE,Retired +GARD:10115,Legacy,GARD,,,,,,,,,,,,Hyperostosis-hyperphosphatemia syndrome,TRUE,FALSE,Active +GARD:10116,Active,Orphanet,ORPHA:91132,Disorder,[Disease],Ichthyosis-hypotrichosis syndrome,"[Hypotrichosis-congenital ichthyosis syndrome, IFAH syndrome, IHS, Ichthyosis-follicular atrophoderma-hypotrichosis syndrome, Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome]","Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.",[602400],,,,,"Ichthyosis with hypotrichosis, autosomal recessive",TRUE,FALSE,Active +GARD:10117,Legacy,GARD,,,,,,,,,,,,Retinal cone dystrophy 2,TRUE,FALSE,Active +GARD:10118,Active,Orphanet,ORPHA:75382,Disorder,[Malformation syndrome],Oguchi disease,"[Congenital stationary night blindness, Oguchi type, Oguchi syndrome]",Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.,"[613411, 258100]",,,,,Oguchi disease,TRUE,FALSE,Active +GARD:10119,Active,Orphanet+OMIM,OMIM:304030,Subtype of disorder,[Disease subtype],"Cone dystrophy, x-linked, with tapetal-like sheen",,"{1:Heckenlively and Weleber (1986)} described 2 families with a 'new' form of X-linked cone dystrophy characterized by a peculiar greenish-golden tapetal-like sheen of large areas of the retina; onset of symptoms in the third decade; gradual loss of vision with development of macular lesions in older patients; defective color vision; elevated cone thresholds on dark adaptometry; and abnormalities of the cone-mediated electroretinogram. One patient developed rhegmatogenous retinal detachment in one eye. Although the disorder was different from Oguchi disease ({258100}) in clinical features and mode of inheritance, the patients showed the Mizuo-Nakamura phenomenon as in Oguchi disease: fading of the retinal sheen with clearer revealing of choroidal structures, on dark adaptation.",[304030],[1871],[Progressive cone dystrophy],[11897],,Cone dystrophy X-linked with tapetal-like sheen,TRUE,FALSE,Active +GARD:10120,Active,Orphanet+OMIM,OMIM:153840,Subtype of disorder,[Disease subtype],"Macular dystrophy, vitelliform, 1","[Macular dystrophy, atypical vitelliform]","Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {4:Manes et al., 2013}). In contrast to typical VMD (see {153700}), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals ({2:Hittner et al., 1984}).\n\n<Subhead> Genetic Heterogeneity of Vitelliform Macular Dystrophy\n\nSee also vitelliform macular dystrophy-2 (VMD2; {153700}), caused by mutation in the BEST1 gene ({607854}) on chromosome 11q; VMD3 ({608161}), caused by mutation in the PRPH2 gene ({179605}) on chromosome 6p21; VMD4 ({616151}), caused by mutation in the IMPG1 gene ({602870}) on chromosome 6q14; and VMD5 ({616152}), caused by mutation in the IMPG2 gene ({607056}) on chromosome 3q12.",[153840],[99000],[Adult-onset foveomacular vitelliform dystrophy],[10909],,"Macular dystrophy, atypical vitelliform",TRUE,FALSE,Active +GARD:10121,Active,Orphanet,ORPHA:75858,Disorder,[Disease],MORM syndrome,[Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome],"A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.",[610156],,,,,MORM syndrome,TRUE,FALSE,Active +GARD:10123,Active,Orphanet,ORPHA:75373,Disorder,[Disease],Progressive bifocal chorioretinal atrophy,"[CRAPB, PBCRA]","Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.",[600790],,,,,Progressive bifocal chorioretinal atrophy,TRUE,FALSE,Active +GARD:10125,Legacy,GARD,,,,,,,,,,,,Agnathia-microstomia-synotia,TRUE,FALSE,Active +GARD:10126,Active,Orphanet,ORPHA:79256,Subtype of disorder,[Clinical subtype],GM1 gangliosidosis type 2,"[Juvenile GM1 gangliosidosis, Late-infantile GM1 gangliosidosis]","GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.",[230600],,,,,GM1 gangliosidosis type 2,TRUE,FALSE,Active +GARD:10127,Active,Orphanet,ORPHA:325448,Subtype of disorder,[Clinical subtype],Leydig cell hypoplasia due to LHB deficiency,"[46,XY DSD due to LHB deficiency, 46,XY DSD due to luteinizing hormone subunit beta deficiency, 46,XY disorder of sex development due to LHB deficiency, 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency, Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency]",,[228300],,,,,Fertile eunuch syndrome,TRUE,FALSE,Active +GARD:10128,Active,Orphanet,ORPHA:52901,Disorder,[Disease],Isolated follicle stimulating hormone deficiency,[Isolated FSH deficiency],"A rare congenital hypogonadotropic hypogonadism characterized by hypogonadism due to selective deficiency of follicle stimulating hormone (FSH). Clinical manifestations are primary amenorrhea, absent or incomplete breast development, and infertility in women, and small testes, azoospermia, and infertility in men. Luteinizing hormone is elevated in the gonadotropin-releasing hormone stimulation test, while the FSH response is impaired.",[229070],,,,,"Follicle-stimulating hormone deficiency, isolated",TRUE,FALSE,Active +GARD:10129,Active,Orphanet,ORPHA:90674,Disorder,[Disease],Isolated thyroid-stimulating hormone deficiency,"[Isolated TSH deficiency, Isolated thyrotropin deficiency]","A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.",[275100],,,,,"Thyrotropin deficiency, isolated",TRUE,FALSE,Active +GARD:10130,Active,Orphanet,ORPHA:48652,Disorder,[Malformation syndrome],Monosomy 22q13.3,"[22q13.3 deletion, Phelan-McDermid syndrome]","Monosomy 22q13.3 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.",[606232],,,,,22q13.3 deletion syndrome,TRUE,FALSE,Active +GARD:10131,Active,Orphanet,ORPHA:90117,Disorder,[Disease],"Hereditary motor and sensory neuropathy, Okinawa type","[HMSNP, Hereditary motor and sensory neuropathy, proximal type]","Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.",[604484],,,,,"Neuropathy, hereditary motor and sensory, Okinawa type",TRUE,FALSE,Active +GARD:10132,Active,Orphanet,ORPHA:99953,Disorder,[Disease],Charcot-Marie-Tooth disease type 4G,"[CMT4G, HMSNR, Hereditary motor and sensory neuropathy, Russe Type]","Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.",[605285],,,,,"Neuropathy, hereditary motor and sensory, Russe type",TRUE,FALSE,Active +GARD:10133,Active,Orphanet,ORPHA:139552,Disorder,[Disease],"Distal hereditary motor neuropathy, Jerash type","[Autosomal recessive distal spinal muscular atrophy type 2, dHMNJ]","A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).",[605726],,,,,"Neuropathy, distal hereditary motor, Jerash type",TRUE,FALSE,Active +GARD:10134,Legacy,GARD,,,,,,,,,,,,Camptodactyly-ichthyosis syndrome,TRUE,FALSE,Active +GARD:10135,Legacy,GARD,,,,,,,,,,,,"Arthrogryposis, distal, type 2E",TRUE,FALSE,Retired +GARD:10136,Legacy,GARD,,,,,,,,,,,,"Xeroderma pigmentosum, type 9",TRUE,FALSE,Retired +GARD:10137,Legacy,GARD,,,,,,,,,,,,"Whispering dysphonia, hereditary",TRUE,FALSE,Retired +GARD:10138,Active,Orphanet,ORPHA:98805,Disorder,[Disease],"Primary dystonia, DYT4 type","[DYT4, Hereditary whispering dysphonia]",DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).,[128101],,,,,DYT-TUBB4A,TRUE,FALSE,Active +GARD:10139,Legacy,GARD,,,,,,,,,,,,Chondrocalcinosis due to apatite crystal deposition,TRUE,FALSE,Active +GARD:10140,Active,Orphanet,ORPHA:97297,Disorder,[Malformation syndrome],Bohring-Opitz syndrome,"[BOS syndrome, Bohring syndrome, C-like syndrome, Oberklaid-Danks syndrome, Opitz trigonocephaly-like syndrome]","A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints.",[605039],,,,,Bohring-Opitz syndrome,TRUE,FALSE,Active +GARD:10141,Legacy,GARD,,,,,,,,,,,,"Myelocytic leukemia-like syndrome, familial, chronic",TRUE,FALSE,Active +GARD:10142,Active,Orphanet,ORPHA:216804,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 2,"[Lethal osteogenesis imperfecta, OI type 2]","A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.","[166210, 259440, 610915, 610682]",,,,,Osteogenesis imperfecta type II,TRUE,FALSE,Active +GARD:10143,Legacy,GARD,,,,,,,,,,,,Osteogenesis imperfecta type 2B,TRUE,FALSE,Retired +GARD:10144,Active,Orphanet,ORPHA:166265,Subtype of disorder,[Clinical subtype],Dentinogenesis imperfecta type 3,"[Dentinogenesis imperfecta, Shields type 3]","Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).",[125500],,,,,Dentinogenesis imperfecta type 3,TRUE,FALSE,Active +GARD:10145,Active,Orphanet,ORPHA:1713,Disorder,[Malformation syndrome],17p11.2 microduplication syndrome,"[Potocki-Lupski syndrome, Trisomy 17p11.2]","17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.",[610883],,,,,Potocki-Lupski syndrome,TRUE,FALSE,Active +GARD:10146,Legacy,GARD,,,,,,,,,,,,Anomalous origin of right pulmonary artery familial,TRUE,FALSE,Active +GARD:10147,Active,Orphanet,ORPHA:107,Disorder,[Malformation syndrome],BOR syndrome,[Branchiootorenal syndrome],"A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).","[610896, 113650]",,,,,Branchiootorenal syndrome,TRUE,FALSE,Active +GARD:10148,Active,Orphanet,ORPHA:52429,Disorder,[Malformation syndrome],Branchiootic syndrome,,"Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).","[602588, 120502, 608389]",,,,,Branchiootic syndrome,TRUE,FALSE,Active +GARD:10149,Active,Orphanet,ORPHA:1801,Disorder,[Malformation syndrome],Kyphomelic dysplasia,,"A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide iliac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.",[211350],,,,,Kyphomelic dysplasia,TRUE,FALSE,Active +GARD:10150,Legacy,GARD,,,,,,,,,,,,Idiopathic subglottic tracheal stenosis,TRUE,FALSE,Active +GARD:10151,Active,Orphanet+OMIM,OMIM:612952,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 5,,,[612952],[51],[Aicardi-Goutières syndrome],[575],,Aicardi-Goutieres syndrome type 5,TRUE,FALSE,Retired +GARD:10152,Active,Orphanet+OMIM,OMIM:610915,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type viii","[Oi, type viii]","Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {3:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}). {2:Cabral et al. (2007)} described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.",[610915],"[216804, 216812]","[Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3]","[10142, 8695]",,Osteogenesis imperfecta type VIII,TRUE,FALSE,Active +GARD:10153,Active,Orphanet,ORPHA:31837,Disorder,[Disease],Pulmonary venoocclusive disease,,,[265450],,,,,Pulmonary venoocclusive disease,TRUE,FALSE,Active +GARD:10155,Legacy,GARD,,,,,,,,,,,,Fetal macrosomia,TRUE,FALSE,Active +GARD:10156,Active,Orphanet,ORPHA:264688,Disorder,[Disease],Congenital chylothorax,,"Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.",[603523],,,,,"Chylothorax, congenital",TRUE,FALSE,Active +GARD:10158,Legacy,GARD,,,,,,,,,,,,Torsion dystonia,TRUE,FALSE,Retired +GARD:10160,Legacy,GARD,,,,,,,,,,,,Reed syndrome,TRUE,FALSE,Retired +GARD:10161,Legacy,GARD,,,,,,,,,,,,Onychotrichodysplasia and neutropenia,TRUE,FALSE,Active +GARD:10162,Legacy,GARD,,,,,,,,,,,,Papillary cystadenocarcinoma,TRUE,FALSE,Active +GARD:10163,Active,Orphanet,ORPHA:307766,Disorder,[Disease],Curly hair-acral keratoderma-caries syndrome,"[CHAC syndrome, CHACS]","Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.",[607656],,,,,Curly hair-acral keratoderma-caries syndrome,TRUE,FALSE,Active +GARD:10164,Legacy,GARD,,,,,,,,,,,,Plagiocephaly,TRUE,FALSE,Active +GARD:10165,Legacy,GARD,,,,,,,,,,,,Nonseminomatous germ cell tumor,TRUE,FALSE,Active +GARD:10166,Legacy,GARD,,,,,,,,,,,,Cerebrospinal fluid leak,TRUE,FALSE,Active +GARD:10167,Active,Orphanet+OMIM,OMIM:608091,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 2,[Cerebellooculorenal syndrome 2],"Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices ({4:Maria et al., 1997}). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) ({1:Chance et al., 1999}; {5:Satran et al., 1999}).",[608091],[2318],[Joubert syndrome with oculorenal defect],[9455],,Joubert syndrome 2,TRUE,FALSE,Active +GARD:10168,Active,Orphanet,ORPHA:220493,Disorder,[Malformation syndrome],Joubert syndrome with ocular defect,"[JS-O, Joubert syndrome with retinopathy]","Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.","[614424, 614464, 614970, 608629, 617121]",,,,,Joubert syndrome with ocular anomalies,TRUE,FALSE,Active +GARD:10169,Active,Orphanet,ORPHA:220497,Disorder,[Malformation syndrome],Joubert syndrome with renal defect,[JS-R],"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.","[614424, 611560, 609583]",,,,,Joubert syndrome with renal anomalies,TRUE,FALSE,Active +GARD:1017,Active,Orphanet,ORPHA:666,Disorder,[Disease],Osteogenesis imperfecta,"[Brittle bone disease, Glass bone disease, Lobstein disease, OI]","A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous.","[166230, 613982, 166210, 259440, 615066, 259420, 610682, 619131, 614856, 613848, 616229, 610915, 166220, 166200, 610967, 615220, 610968, 616507, 613849]",,,,,Osteogenesis imperfecta,TRUE,FALSE,Active +GARD:10173,Active,Orphanet,ORPHA:83451,Disorder,[Disease],Florid cemento-osseous dysplasia,"[Florid osseous dysplasia, Focal cemento-osseous dysplasia]","Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.",,,,,,Florid cemento-osseous dysplasia,TRUE,FALSE,Active +GARD:10174,Legacy,GARD,,,,,,,,,,,,Florid papillomatosis of the nipple,TRUE,FALSE,Active +GARD:10175,Active,Orphanet,ORPHA:99978,Disorder,[Disease],Klatskin tumor,"[Hilar CCA, Hilar cholangiocarcinoma]","Klatskin tumor is an extra-hepatic cholangiocarcinoma (CCA, see this term) arising in the junction of the main right or left hepatic ducts to form the common hepatic duct.",,,,,,Klatskin tumor,TRUE,FALSE,Active +GARD:10176,Legacy,GARD,,,,,,,,,,,,Mastocytic enterocolitis,TRUE,FALSE,Active +GARD:10177,Active,Orphanet,ORPHA:521219,Disorder,[Clinical syndrome],Mirizzi syndrome,[Extrinsic biliary compression syndrome],"A rare biliary tract disease characterized by external compression and subsequent obstruction of an extrahepatic biliary duct by one or more gallstones in the cystic duct or the gallbladder. Patients may present with acute or chronic cholecystitis with right upper abdominal pain, nausea, and vomiting, jaundice, or cholangitis. Cholecystobiliary or -enteric fistulae can arise due to chronic inflammation and ulceration.",,,,,,Mirizzi syndrome,TRUE,FALSE,Active +GARD:10178,Legacy,GARD,,,,,,,,,,,,Weyers ulnar ray/oligodactyly syndrome,TRUE,FALSE,Active +GARD:10179,Active,Orphanet,ORPHA:79493,Disorder,[Disease],Brooke-Spiegler syndrome,[CYLD cutaneous syndrome],"A rare genetic disease characterized as an inherited skin tumour predisposition syndrome presenting with skin appendage tumours, namely cylindromas, spiradenomas and trichoepitheliomas","[132700, 612099, 601606, 605041]",,,,,CYLD cutaneous syndrome,TRUE,FALSE,Active +GARD:1018,Legacy,GARD,,,,,,,,,,,,Brittle bone syndrome lethal type,TRUE,FALSE,Active +GARD:10181,Active,Orphanet,ORPHA:293202,Disorder,[Disease],Epithelioid sarcoma,,"Epithelioid sarcoma is a rare, soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body.",,,,,,Epithelioid sarcoma,TRUE,FALSE,Active +GARD:10182,Legacy,GARD,,,,,,,,,,,,Hereditary antithrombin deficiency type 2,TRUE,FALSE,Active +GARD:10183,Legacy,GARD,,,,,,,,,,,,Hemoglobin Zurich,TRUE,FALSE,Active +GARD:10184,Active,Orphanet,ORPHA:398088,Disorder,[Disease],Hereditary cryohydrocytosis with normal stomatin,,"Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.",[185020],,,,,Pseudohyperkalemia Cardiff,TRUE,FALSE,Active +GARD:10185,Legacy,GARD,,,,,,,,,,,,Chester porphyria,TRUE,FALSE,Active +GARD:10186,Legacy,GARD,,,,,,,,,,,,Urachal adenocarcinoma,TRUE,FALSE,Active +GARD:10188,Active,Orphanet+OMIM,OMIM:300652,Subtype of disorder,[Disease subtype],"Angioma serpiginosum, x-linked",,"Angioma serpiginosum (AS) is a rare benign congenital skin disorder characterized by nonpurpuric red punctate lesions seen histologically as capillary ectasias in the superficial papillary dermis. The lesions often follow Blaschko lines and are most commonly found in females (90%) ({1:Blinkenberg et al., 2007}).\n\nSee {106050} for additional phenotypic information and possible autosomal dominant inheritance or cutaneous somatic mosaicism ({2:Chen et al., 2006}; {1:Blinkenberg et al., 2007}).",[300652],[95429],[Angioma serpiginosum],[15021],,Angioma serpiginosum,TRUE,FALSE,Active +GARD:10189,Active,Orphanet+OMIM,OMIM:106050,Subtype of disorder,[Disease subtype],"Angioma serpiginosum, autosomal dominant",,"Angioma serpiginosum is an uncommon benign skin disorder characterized by asymptomatic clusters of nonpurpuric punctate erythematous lesions. The rash is asymptomatic but may lead to cosmetic problems and can be treated by laser therapy. Women are most commonly affected, and the disorder is most often sporadic, although rare families suggestive of autosomal dominant inheritance have been reported ({8:Sandhu and Gupta, 2005}). No male-to-male transmission has been described, but father-to-daughter transmissions are known. It has been suggested that the pattern of skin involvement may be due to cutaneous somatic mosaicism ({3:Chen et al., 2006}; {2:Blinkenberg et al., 2007}).\n\nAn X-linked dominant form of angioma serpiginosum ({300652}) has been mapped. The few males described may actually represent somatic mosaicism of an X-linked gene.",[106050],[95429],[Angioma serpiginosum],[15021],,"Angioma serpiginosum, autosomal dominant",TRUE,FALSE,Retired +GARD:1019,Active,Orphanet,ORPHA:90354,Disorder,[Disease],Brittle cornea syndrome,,"A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.","[614170, 229200]",,,,,Brittle cornea syndrome,TRUE,FALSE,Active +GARD:10190,Active,Orphanet,ORPHA:268994,Subtype of disorder,[Clinical subtype],Isolated focal cortical dysplasia type II,"[Cortical dysplasia, Taylor type, FCD type II, Isolated focal cortical dysplasia type 2]",,[607341],,,,,Focal cortical dysplasia of Taylor,TRUE,FALSE,Active +GARD:10191,Legacy,GARD,,,,,,,,,,,,Status epilepticus,TRUE,FALSE,Active +GARD:10192,Legacy,GARD,,,,,,,,,,,,True thymic hyperplasia,TRUE,FALSE,Active +GARD:10193,Active,Orphanet,ORPHA:86884,Disorder,[Disease],Subcutaneous panniculitis-like T-cell lymphoma,"[SPTCL, Subcutaneous panniculitic T-cell lymphoma]",Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.,[618398],,,,,Subcutaneous panniculitis-like T-cell lymphoma,TRUE,FALSE,Active +GARD:10194,Legacy,GARD,,,,,,,,,,,,"Acromegaloid features, overgrowth, cleft palate and hernia",TRUE,FALSE,Active +GARD:10195,Legacy,GARD,,,,,,,,,,,,"Faciomandibular myoclonus, nocturnal",TRUE,FALSE,Active +GARD:10196,Legacy,GARD,,,,,,,,,,,,Mesenteric artery ischemia,TRUE,FALSE,Retired +GARD:10197,Legacy,GARD,,,,,,,,,,,,Selective IgA deficiency,FALSE,FALSE,Active +GARD:10198,Legacy,GARD,,,,,,,,,,,,Immunoglobulin A deficiency 2,TRUE,FALSE,Active +GARD:10199,Active,Orphanet,ORPHA:98890,Disorder,[Disease],Early-onset X-linked optic atrophy,"[Non-Leber type optic atrophy with early-onset, OPA2, Optic atrophy type 2]","Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.",[311050],,,,,Optic atrophy 2,TRUE,FALSE,Active +GARD:102,Active,Orphanet,ORPHA:2671,Disorder,[Malformation syndrome],Neu-Laxova syndrome,,"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.","[256520, 616038]",,,,,Neu Laxova syndrome,TRUE,FALSE,Active +GARD:10200,Active,Orphanet+OMIM,OMIM:258500,Subtype of disorder,[Disease subtype],Optic atrophy 6,,"For a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[258500],[98676],[Autosomal recessive isolated optic atrophy],[16860],,Optic atrophy 6,TRUE,FALSE,Active +GARD:10201,Active,Orphanet+OMIM,OMIM:610708,Subtype of disorder,[Disease subtype],Optic atrophy 5,,"OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by {2:Gerber et al., 2017}).\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[610708],[98673],"[Autosomal dominant optic atrophy, classic form]",[9890],,Optic atrophy 5,TRUE,FALSE,Active +GARD:10202,Active,Orphanet,ORPHA:1001,Disorder,[Malformation syndrome],2q37 microdeletion syndrome,"[Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability syndrome, Del(2)(q37), Deletion 2q37, Monosomy 2q37qter]","A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.",[600430],,,,,2q37 deletion syndrome,TRUE,FALSE,Active +GARD:10203,Active,Orphanet,ORPHA:67036,Disorder,[Disease],Autosomal dominant optic atrophy and cataract,"[Autosomal dominant optic atrophy type 3, OPA3, autosomal dominant]","A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).",[165300],,,,,Autosomal dominant optic atrophy and cataract,TRUE,FALSE,Active +GARD:10204,Active,Orphanet+OMIM,OMIM:615983,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 5,,"BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by {5:Scheidecker et al., 2015}). Patients described by {6:Young et al. (1999)} and {4:Moore et al. (2005)} with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% ({3:Li et al., 2004}) and 0.40% ({7:Zaghloul and Katsanis, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615983],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 5,TRUE,FALSE,Active +GARD:10205,Active,Orphanet+OMIM,OMIM:605231,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 6,,"BBS6 is an autosomal recessive disorder with cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation ({5:Slavotinek et al., 2000}). {6:Zaghloul and Katsanis (2009)} estimated that mutations in the MKKS gene account for 5.8% of the total BBS mutational load.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[605231],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 6,TRUE,FALSE,Active +GARD:10206,Active,Orphanet+OMIM,OMIM:615984,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 7,,"Bardet-Biedl syndrome-7 (BBS7) is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism ({2:Harville et al., 2010}). {4:Zaghloul and Katsanis (2009)} estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615984],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 7,TRUE,FALSE,Active +GARD:10207,Active,Orphanet+OMIM,OMIM:615985,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 8,,"BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay ({1:Ansley et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615985],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 8,TRUE,FALSE,Active +GARD:10208,Active,Orphanet+OMIM,OMIM:615986,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 9,,"BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation ({1:Abu-Safieh et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615986],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 9,TRUE,FALSE,Active +GARD:10209,Active,Orphanet+OMIM,OMIM:615987,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 10,,"BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia ({5:Stoetzel et al., 2006}). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients ({5:Stoetzel et al., 2006}; {6:Zaghloul and Katsanis, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615987],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 10,TRUE,FALSE,Active +GARD:10210,Active,Orphanet+OMIM,OMIM:615988,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 11,,"BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities ({1:Chiang et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615988],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 11,TRUE,FALSE,Active +GARD:10211,Active,Orphanet+OMIM,OMIM:615989,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 12,,"BBS12 is a clinically pleiotropic autosomal recessive ciliopathy. The patients with BBS12 studied by {5:Stoetzel et al. (2007)} and {3:Harville et al. (2010)} met the diagnostic criteria of {1:Beales et al. (1999)}, which required the presence of either 4 primary features, including rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism (in males), and/or renal anomalies; or 3 primary plus 2 secondary features (e.g., developmental delay, ataxia, cataracts).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615989],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 12,TRUE,FALSE,Active +GARD:10212,Active,Orphanet+OMIM,OMIM:269700,Subtype of disorder,[Disease subtype],"Lipodystrophy, congenital generalized, type 2","[lipoatrophic diabetes, congenital, brunzell syndrome, bscl2-related, seip syndrome, lipodystrophy, berardinelli-seip congenital, type 2, Berardinelli-seip congenital lipodystrophy, type 2, berardinelli syndrome, lipodystrophy, total, and acromegaloid gigantism]","Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes ({5:Garg, 2004}).\n\nFor a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 ({608594}).",[269700],[528],[Congenital generalized lipodystrophy],[13388],,Congenital generalized lipodystrophy type 2,TRUE,FALSE,Active +GARD:10213,Active,Orphanet,ORPHA:572361,Subtype of disorder,[Clinical subtype],Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,"[BPES type 2, Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure]",,[110100],,,,,"Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2",TRUE,FALSE,Retired +GARD:10214,Active,Orphanet,ORPHA:247598,Disorder,[Disease],Neonatal intrahepatic cholestasis due to citrin deficiency,"[NICCD, Neonatal intrahepatic cholestasis caused by citrin deficiency]","A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.",[605814],,,,,Neonatal intrahepatic cholestasis caused by citrin deficiency,TRUE,FALSE,Active +GARD:10215,Active,Orphanet,ORPHA:247585,Disorder,[Disease],Citrullinemia type II,"[Adult-onset citrin deficiency, Adult-onset citrullinemia type 2, Adult-onset citrullinemia type II, CTLN2, Citrullinemia type 2]","A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.",[603471],,,,,Citrullinemia type II,TRUE,FALSE,Active +GARD:10216,Active,Orphanet,ORPHA:443162,Disorder,[Malformation syndrome],NDE1-related microhydranencephaly,[MHAC],"NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.",[605013],,,,,Microhydranencephaly,TRUE,FALSE,Active +GARD:10217,Legacy,GARD,,,,,,,,,,,,Spondyloepiphyseal dysplasia Omani type,TRUE,FALSE,Retired +GARD:10218,Legacy,GARD,,,,,,,,,,,,"Microphthalmia, isolated, with corectopia",TRUE,FALSE,Retired +GARD:10219,Legacy,GARD,,,,,,,,,,,,Tonoki syndrome,TRUE,FALSE,Active +GARD:10220,Active,Orphanet,ORPHA:137678,Disorder,[Disease],Spondyloepiphyseal dysplasia with metatarsal shortening,"[Czech dysplasia, metatarsal type, SED with metatarsal shortening]","A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.",[609162],,,,,Czech dysplasia metatarsal type,TRUE,FALSE,Active +GARD:10221,Active,Orphanet,ORPHA:93111,Subtype of disorder,[Clinical subtype],HNF1B-related autosomal dominant tubulointerstitial kidney disease,"[ADTKD-HNF1B, HNF1B-MODY, HNF1B-related nephropathy, MODY5, Maturity-onset diabetes of the young type 5, RCAD syndrome, Renal cysts and diabetes syndrome, Renal dysfunction-early-onset diabetes syndrome]","A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in or whole gene deletions of HNF1B, which is characterized by chronic tubulo-interstitial nephritis, that manifests with nonsignificant urinalysis and slowly progressive renal failure. It can be associated with cystic kidney dysplasia, early onset diabetes and extrarenal manifestations.","[137920, 616026]",,,,,"Maturity-onset diabetes of the young, type 5",TRUE,FALSE,Active +GARD:10222,Legacy,GARD,,,,,,,,,,,,"Cataracts, ataxia, short stature, and mental retardation",TRUE,FALSE,Retired +GARD:10223,Active,Orphanet,ORPHA:79159,Disorder,[Disease],Isobutyryl-CoA dehydrogenase deficiency,[Isobutyric aciduria],"Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).",[611283],,,,,Isobutyryl-CoA dehydrogenase deficiency,TRUE,FALSE,Active +GARD:10224,Active,Orphanet,ORPHA:73263,Disorder,[Disease],Zygomycosis,[Mucormycosis],"A rare mycosis caused by ubiquitous, opportunistic fungi of the order Mucorales, characterized by tissue infarction and necrosis due to invasion of the vasculature by hyphae. The spectrum of clinical manifestations depends on the route of infection and includes rhinocerebral, pulmonary, cutaneous, gastrointestinal, renal, and disseminated forms. The disease is usually rapidly progressive and associated with high mortality.",,,,,,Mucormycosis,TRUE,FALSE,Active +GARD:10225,Active,Orphanet,ORPHA:247709,Subtype of disorder,[Clinical subtype],Multiple endocrine neoplasia type 2B,"[MEN2B, Multiple endocrine neoplasia type 3, Wagenmann-Froboese syndrome]","A rare form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by aggressive medullary thyroid carcinoma in association with other endocrine tumors, notably pheochromocytoma (one or both adrenal glands can be affected). Onset is typically in infancy or childhood and patients often have a typical facies (mucosal neuromas of the lips and tongue, and bumpy lips), ophthalmologic abnormalities (alacrima in infancy, thickened and everted eyelids, mild ptosis, and prominent corneal nerves), skeletal anomalies (marfanoid body habitus, narrow long facies, pes cavus, pectus excavatum, high-arched palate, scoliosis, hyperextensible joints and slipped capital femoral epiphyses), and a generalized ganglioneuromatosis throughout the aerodigestive tract. Chronic constipation, abdominal distension, diarrhea, or megacolon at birth are often the initial manifestations.",[162300],,,,,Multiple endocrine neoplasia type 2B,TRUE,FALSE,Active +GARD:10226,Active,Orphanet,ORPHA:263508,Disorder,[Disease],COG1-CDG,"[CDG syndrome type IIg, CDG-IIg, CDG2G, Carbohydrate deficient glycoprotein syndrome type IIg, Congenital disorder of glycosylation type 2g, Congenital disorder of glycosylation type IIg]","COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.",[611209],,,,,COG1-CDG (CDG-IIg),TRUE,FALSE,Active +GARD:10227,Legacy,GARD,,,,,,,,,,,,"Cataract, posterior polar, 3",TRUE,FALSE,Active +GARD:10228,Legacy,GARD,,,,,,,,,,,,"Cataract, posterior polar, 4",TRUE,FALSE,Active +GARD:10229,Active,Orphanet,ORPHA:266,Disorder,[Disease],Autosomal dominant limb-girdle muscular dystrophy type 1A,"[LGMD1A, Limb-girdle muscular dystrophy due to myotilin deficiency]","A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.",[609200],,,,,Limb-girdle muscular dystrophy type 1A,TRUE,FALSE,Active +GARD:1023,Legacy,GARD,,,,,,,,,,,,Bronchiectasis oligospermia,TRUE,FALSE,Active +GARD:10230,Active,Orphanet+OMIM,OMIM:181350,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 2, autosomal dominant","[emery-dreifuss muscular dystrophy, autosomal dominant, muscular dystrophy, limb-girdle, type 1b, formerly, cardiomyopathy, dilated, with quadriceps myopathy, scapuloilioperoneal atrophy with cardiopathy, hauptmann-thannhauser muscular dystrophy, Emd2, muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant, muscular dystrophy, proximal, type 1b, formerly]","EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1; {310300}) is an X-linked disorder caused by mutation in the emerin gene (EMD; {300384}) on Xq28 ({7:Emery, 1989}).\n\nFor a discussion of genetic heterogeneity of EDMD, see {310300}.",[181350],[98853],[Autosomal dominant Emery-Dreifuss muscular dystrophy],[16865],,Limb-girdle muscular dystrophy type 1B,TRUE,FALSE,Active +GARD:10232,Legacy,GARD,,,,,,,,,,,,Crohn's disease,FALSE,FALSE,Active +GARD:10234,Legacy,GARD,,,,,,,,,,,,"Cataract, posterior polar, 1",TRUE,FALSE,Active +GARD:10236,Legacy,GARD,,,,,,,,,,,,"Cataract, posterior polar, 5",TRUE,FALSE,Active +GARD:10237,Active,Orphanet,ORPHA:65284,Disorder,[Disease],Biotin-thiamine-responsive basal ganglia disease,"[BBGD, BTBGD, Biotin-responsive basal ganglia disease]","A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine.",[607483],,,,,Biotin-thiamine-responsive basal ganglia disease,TRUE,FALSE,Active +GARD:10238,Active,Orphanet,ORPHA:275534,Disorder,[Disease],Myostatin-related muscle hypertrophy,,,[614160],,,,,Myostatin-related muscle hypertrophy,TRUE,FALSE,Active +GARD:10239,Active,Orphanet,ORPHA:168569,Disorder,[Malformation syndrome],H syndrome,,"A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.",[602782],,,,,Histiocytosis-lymphadenopathy plus syndrome,TRUE,FALSE,Active +GARD:10240,Legacy,GARD,,,,,,,,,,,,CoQ-responsive OXPHOS deficiency,TRUE,FALSE,Active +GARD:10241,Active,Orphanet+OMIM,OMIM:610629,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 3,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[610629],[124],[Blackfan-Diamond anemia],[6274],,Diamond-Blackfan anemia 3,TRUE,FALSE,Active +GARD:10244,Active,Orphanet,ORPHA:535453,Subtype of disorder,[Etiological subtype],Familial lipase maturation factor 1 deficiency,[Familial LMF1 deficiency],,[246650],,,,,Lipase deficiency combined,TRUE,FALSE,Active +GARD:10246,Legacy,GARD,,,,,,,,,,,,Asthma,FALSE,FALSE,Active +GARD:10247,Active,Orphanet,ORPHA:870,Disorder,[Malformation syndrome],Down syndrome,[Trisomy 21],"A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects.",[190685],,,,,Down syndrome,FALSE,FALSE,Active +GARD:10248,Active,Orphanet,ORPHA:180772,Group of disorders,[Category],Rare disease with autism,,,,,,,,Autism spectrum disorder,FALSE,FALSE,Active +GARD:10249,Legacy,GARD,,,,,,,,,,,,Bipolar disorder,FALSE,FALSE,Active +GARD:1025,Active,Orphanet,ORPHA:2357,Disorder,[Morphological anomaly],Bronchogenic cyst,,Congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.,,,,,,Bronchogenic cyst,TRUE,FALSE,Active +GARD:10251,Legacy,GARD,,,,,,,,,,,,Parkinson disease,FALSE,FALSE,Active +GARD:10252,Active,Orphanet,ORPHA:289390,Disorder,[Disease],Primary Sjögren syndrome,[Primary Sjögren-Gougerot syndrome],"A rare systemic autoimmune disease characterized by exocrine gland dysfunction, resulting predominately in keratoconjunctivitis sicca and xerostomia, but also affecting exocrine glands of the skin, as well as respiratory, urogenital, and digestive tract. Extraglandular manifestations include arthritis, interstitial lung disease, renal disease, and peripheral neuropathy. The disease is accompanied by a substantially increased risk to develop B-cell non-Hodgkin lymphoma, especially MALT (mucosa-associated lymphoid tissue) lymphoma.",[270150],,,,,Sjogren syndrome,FALSE,FALSE,Active +GARD:10253,Legacy,GARD,,,,,,,,,,,,Lupus,FALSE,FALSE,Active +GARD:10254,Legacy,GARD,,,,,,,,,,,,Alzheimer disease,FALSE,FALSE,Active +GARD:10255,Legacy,GARD,,,,,,,,,,,,Multiple sclerosis,FALSE,FALSE,Active +GARD:10256,Legacy,GARD,,,,,,,,,,,,Irritable bowel syndrome,FALSE,FALSE,Draft +GARD:10257,Legacy,GARD,,,,,,,,,,,,Monogenic diabetes,FALSE,FALSE,Active +GARD:1026,Legacy,GARD,,,,,,,,,,,,Amyloidosis bronchopulmonary,TRUE,FALSE,Active +GARD:10260,Legacy,GARD,,,,,,,,,,,,Macular degeneration,FALSE,FALSE,Active +GARD:10261,Legacy,GARD,,,,,,,,,,,,Obesity,FALSE,FALSE,Draft +GARD:10262,Legacy,GARD,,,,,,,,,,,,Psoriasis,FALSE,FALSE,Active +GARD:10263,Active,Orphanet,ORPHA:99927,Disorder,[Disease],Hydatidiform mole,[Molar pregnancy],"A hydatidiform mole is a benign gestational trophoblastic disease developing during pregnancy. Resulting from an abnormal fertilization characterized by trophoblastic proliferation, normal embryo development is rendered impossible. Hydatidiform moles can be either complete or partial.","[614293, 231090]",,,,,Hydatidiform mole,TRUE,FALSE,Active +GARD:10264,Legacy,GARD,,,,,,,,,,,,Spinal meningioma,TRUE,FALSE,Active +GARD:10265,Legacy,GARD,,,,,,,,,,,,Pityriasis lichenoides,TRUE,FALSE,Active +GARD:10266,Active,Orphanet,ORPHA:85458,Disorder,[Disease],Hereditary cerebral hemorrhage with amyloidosis,[HCHWA],"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.","[605714, 105150]",,,,,Hereditary cerebral hemorrhage with amyloidosis,TRUE,FALSE,Active +GARD:10267,Active,Orphanet,ORPHA:309147,Disorder,[Disease],Hyper-beta-alaninemia,[Hyperalaninemia],"A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise, seizures, respiratory distress, lethargy and encephalopathy. Urinary excretion of beta-alanine, beta-amino-isobutyric acid, taurine, and gamma-amino-butyric acid is also elevated. There have been no further descriptions in the literature since 1994.",[237400],,,,,Hyperbetaalaninemia,TRUE,FALSE,Active +GARD:10268,Legacy,GARD,,,,,,,,,,,,Diabetes mellitus type 1,FALSE,FALSE,Active +GARD:10269,Legacy,GARD,,,,,,,,,,,,"Pancreatitis, pediatric",TRUE,FALSE,Active +GARD:10270,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 3",TRUE,FALSE,Active +GARD:10271,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 4",TRUE,FALSE,Active +GARD:10272,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 5",TRUE,FALSE,Active +GARD:10273,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 6",TRUE,FALSE,Active +GARD:10276,Legacy,GARD,,,,,,,,,,,,Windblown hand,TRUE,FALSE,Active +GARD:10277,Active,Orphanet,ORPHA:2952,Disorder,[Malformation syndrome],"Adducted thumbs-arthrogryposis syndrome, Christian type",,"A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ('myopathic' stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life; see this term) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.",[201550],,,,,"Clasped thumbs, congenital",TRUE,FALSE,Active +GARD:10278,Legacy,GARD,,,,,,,,,,,,Aquagenic pruritus,TRUE,FALSE,Active +GARD:10279,Legacy,GARD,,,,,,,,,,,,Fasting hypoglycemia,FALSE,FALSE,Active +GARD:10280,Active,Orphanet,ORPHA:2345,Disorder,[Malformation syndrome],Isolated Klippel-Feil syndrome,"[Congenital cervical vertebral fusion, Congenital fused cervical segments, Klippel-Feil malformation, Klippel-Feil sequence]",Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.,"[613702, 118100, 214300]",,,,,Klippel Feil syndrome,TRUE,FALSE,Active +GARD:10281,Active,Orphanet+OMIM,OMIM:180500,Subtype of disorder,[Malformation syndrome subtype],"Axenfeld-rieger syndrome, type 1","[rgs, Rieger syndrome, type 1, rieg]","Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals ({12:Fitch and Kaback, 1978}). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia ({1:Alkemade, 1969}).\n\n<Subhead> Genetic Heterogeneity of Axenfeld-Rieger Syndrome\n\nLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2; {601499}). A third form of Axenfeld-Rieger syndrome (RIEG3; {602482}) is caused by mutation in the FOXC1 gene ({601090}) on chromosome 6p25.\n\nSee {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.",[180500],[782],[Axenfeld-Rieger syndrome],[5701],,Axenfeld-Rieger syndrome type 1,TRUE,FALSE,Retired +GARD:10282,Legacy,GARD,,,,,,,,,,,,Lin-Gettig syndrome,TRUE,FALSE,Active +GARD:10283,Active,Orphanet,ORPHA:35107,Disorder,[Disease],Desmosterolosis,,"Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.",[602398],,,,,Desmosterolosis,TRUE,FALSE,Active +GARD:10284,Legacy,GARD,,,,,,,,,,,,Acanthocytosis,TRUE,FALSE,Retired +GARD:10285,Legacy,GARD,,,,,,,,,,,,Periventricular leukomalacia,TRUE,FALSE,Active +GARD:10286,Legacy,GARD,,,,,,,,,,,,Cluster headache,FALSE,FALSE,Active +GARD:10287,Active,Orphanet,ORPHA:1945,Disorder,[Disease],Rolandic epilepsy,"[BECRS, BECTS, BRE, Benign epilepsy of childhood with centrotemporal spikes, Benign familial epilepsy of childhood with rolandic spikes, Benign rolandic epilepsy, Centrotemporal epilepsy]","Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.","[117100, 245570]",,,,,Benign rolandic epilepsy (BRE),TRUE,FALSE,Active +GARD:10288,Active,Orphanet,ORPHA:98908,Disorder,[Disease],Neutral lipid storage myopathy,"[NLSDM, Neutral lipid storage disease with myopathy without ichthyosis]","A form of neutral lipid storage disease characterized by adult onset of slowly progressive, typically proximal, muscular weakness of the upper and lower limbs, associated with elevated serum creatine kinase. Many patients develop cardiomyopathy later in the disease course. Additional, variable manifestations include hepatomegaly, diabetes mellitus, and hypertriglyceridemia, among others. Diagnostic hallmarks are triacylglycerol-containing lipid vacuoles in leukocytes in peripheral blood smears (so-called Jordans' anomaly), as well as massive accumulation of lipid droplets in muscle tissue.",[610717],,,,,Neutral lipid storage disease with myopathy,TRUE,FALSE,Active +GARD:10289,Legacy,GARD,,,,,,,,,,,,Krabbe disease atypical due to Saposin A deficiency,TRUE,FALSE,Active +GARD:1029,Active,Orphanet,ORPHA:2771,Disorder,[Malformation syndrome],Bruck syndrome,[Osteogenesis imperfecta-congenital joint contractures syndrome],Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.,"[609220, 259450]",,,,,Bruck syndrome 1,TRUE,FALSE,Active +GARD:10290,Active,Orphanet,ORPHA:166277,Disorder,[Malformation syndrome],Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,[Suarez-Stickler syndrome],"A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.",[604922],,,,,Cortical defects wormian bones and dentinogenesis imperfecta,TRUE,FALSE,Active +GARD:10291,Active,Orphanet,ORPHA:2612,Disorder,[Disease],Linear nevus sebaceus syndrome,"[Nevus sebaceus of Jadassohn, Nevus sebaceus syndrome, Organoid nevus syndrome, Schimmelpenning syndrome, Solomon syndrome]","A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system.",[163200],,,,,Linear nevus sebaceous syndrome,TRUE,FALSE,Active +GARD:10292,Legacy,GARD,,,,,,,,,,,,"Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities",TRUE,FALSE,Retired +GARD:10293,Legacy,GARD,,,,,,,,,,,,Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation,TRUE,FALSE,Retired +GARD:10294,Active,Orphanet,ORPHA:139485,Disorder,[Disease],Autosomal recessive ataxia due to ubiquinone deficiency,"[ARCA2, Autosomal recessive ataxia due to coenzyme Q10 deficiency, Autosomal recessive cerebellar ataxia type 2, Autosomal recessive spinocerebellar ataxia type 9, SCAR9]",This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.,"[619028, 612016]",,,,,Autosomal recessive spinocerebellar ataxia 9,TRUE,FALSE,Active +GARD:10295,Active,Orphanet,ORPHA:140952,Disorder,[Malformation syndrome],Syndactyly-telecanthus-anogenital and renal malformations syndrome,[STAR syndrome],"A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.",[300707],,,,,STAR syndrome,TRUE,FALSE,Active +GARD:10296,Active,Orphanet,ORPHA:199318,Disorder,[Malformation syndrome],15q13.3 microdeletion syndrome,"[Del(15)(q13.3), Monosomy 15q13.3]",15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.,[612001],,,,,15q13.3 microdeletion syndrome,TRUE,FALSE,Active +GARD:10297,Active,Orphanet,ORPHA:1802,Disorder,[Malformation syndrome],Ghosal hematodiaphyseal dysplasia,"[Diaphyseal dysplasia-anemia syndrome, Ghosal syndrome]",Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.,[231095],,,,,Ghosal hematodiaphyseal dysplasia syndrome,TRUE,FALSE,Active +GARD:10298,Legacy,GARD,,,,,,,,,,,,"Anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies",TRUE,FALSE,Retired +GARD:10299,Active,Orphanet,ORPHA:567,Disorder,[Malformation syndrome],22q11.2 deletion syndrome,"[22q11DS, CATCH 22, Cayler cardiofacial syndrome, Conotruncal anomaly face syndrome, DiGeorge sequence, DiGeorge syndrome, Microdeletion 22q11.2, Monosomy 22q11, Sedlackova syndrome, Shprintzen syndrome, Takao syndrome, Velocardiofacial syndrome]","A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.","[188400, 192430]",,,,,22q11.2 deletion syndrome,TRUE,FALSE,Active +GARD:1030,Active,Orphanet,ORPHA:130,Disorder,[Disease],Brugada syndrome,"[Idiopathic ventricular fibrillation, Brugada type]","A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities.","[611876, 616399, 601144, 613119, 613123, 611875, 612838, 611777, 613120]",,,,,Brugada syndrome,TRUE,FALSE,Active +GARD:10300,Active,Orphanet,ORPHA:139450,Disorder,[Malformation syndrome],Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,[Balikova-Vermeesch syndrome],"This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.",[611863],,,,,Microtia eye coloboma and imperforation of the nasolacrimal duct,TRUE,FALSE,Active +GARD:10301,Active,Orphanet,ORPHA:139455,Disorder,[Disease],Autosomal recessive bestrophinopathy,"[Retinopathy, Burgess-Black type]","A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).",[611809],,,,,Autosomal recessive bestrophinopathy,TRUE,FALSE,Active +GARD:10302,Active,Orphanet,ORPHA:139466,Disorder,[Malformation syndrome],SERKAL syndrome,"[Sex reversion-kidneys, adrenal and lung dysgenesis syndrome]","SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.",[611812],,,,,SERKAL syndrome,TRUE,FALSE,Active +GARD:10303,Active,Orphanet,ORPHA:137911,Disorder,[Malformation syndrome],Autism-facial port-wine stain syndrome,,A rare pervasive developmental disorder characterized by the presence of a unilateral angioma on the face and autistic developmental problems including language delay and atypical social interactions. The disease may initially resemble Sturge-Weber syndrome.,,,,,,Autism with port-wine stain,TRUE,FALSE,Active +GARD:10304,Active,Orphanet,ORPHA:251076,Disorder,[Malformation syndrome],8p23.1 duplication syndrome,"[Dup(8)(p23.1p23.1), Trisomy 8p23.1]","8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).",,,,,,8p23.1 duplication syndrome,TRUE,FALSE,Active +GARD:10305,Legacy,GARD,,,,,,,,,,,,"Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia",TRUE,FALSE,Retired +GARD:10306,Active,Orphanet,ORPHA:93606,Disorder,[Disease],Nephrogenic syndrome of inappropriate antidiuresis,[NSIAD],"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.",[300539],,,,,Syndrome of inappropriate antidiuretic hormone,FALSE,FALSE,Active +GARD:10307,Active,Orphanet,ORPHA:137,Group of disorders,[Category],Congenital disorder of glycosylation,"[CDG, Carbohydrate deficient glycoprotein syndrome]","A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.",,,,,,Congenital disorders of glycosylation,TRUE,FALSE,Active +GARD:10308,Legacy,GARD,,,,,,,,,,,,Scleroderma,FALSE,FALSE,Active +GARD:10309,Legacy,GARD,,,,,,,,,,,,Mannose-binding lectin protein deficiency,FALSE,FALSE,Active +GARD:10310,Legacy,GARD,,,,,,,,,,,,Autoimmune atrophic gastritis,FALSE,FALSE,Active +GARD:10311,Active,Orphanet,ORPHA:70592,Disorder,[Disease],Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency,[IRAK4 deficiency],Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.,[607676],,,,,IRAK-4 deficiency,TRUE,FALSE,Active +GARD:10312,Active,Orphanet,ORPHA:85146,Disorder,[Disease],"Neurogenic scapuloperoneal syndrome, Kaeser type","[Kaeser syndrome, Stark-Kaeser syndrome]","A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.",[181400],,,,,"Scapuloperoneal syndrome, neurogenic, Kaeser type",TRUE,FALSE,Active +GARD:10313,Active,Orphanet,ORPHA:437572,Disorder,[Disease],MYH7-related late-onset scapuloperoneal muscular dystrophy,"[MYH7-related late-onset SPMD, MYH7-related late-onset scapuloperoneal syndrome]",,[181430],,,,,MYH7-related scapuloperoneal myopathy,TRUE,FALSE,Active +GARD:10314,Active,Orphanet,ORPHA:431255,Disorder,[Disease],Scapuloperoneal spinal muscular atrophy,"[Neurogenic scapuloperoneal amyotrophy, New England type, SPSMA, Scapuloperoneal neuronopathy]","A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities.",[181405],,,,,"Amyotrophy, neurogenic scapuloperoneal, New England type",TRUE,FALSE,Active +GARD:10316,Active,Orphanet,ORPHA:98905,Subtype of disorder,[Clinical subtype],Congenital multicore myopathy with external ophthalmoplegia,,,[255320],,,,,Minicore myopathy with external ophthalmoplegia,TRUE,FALSE,Active +GARD:10317,Active,Orphanet,ORPHA:280671,Disorder,[Disease],Megaconial congenital muscular dystrophy,"[Congenital megaconial myopathy, Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect, Congenital muscular dystrophy with mitochondrial structural abnormalities]","A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.",[602541],,,,,"Muscular dystrophy, congenital, megaconial type",TRUE,FALSE,Active +GARD:10318,Legacy,GARD,,,,,,,,,,,,Pleoconial myopathy with salt craving,TRUE,FALSE,Active +GARD:10319,Active,Orphanet,ORPHA:2964,Disorder,[Malformation syndrome],Autosomal dominant prognathism,,"A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.",[176700],,,,,Prognathism mandibular,TRUE,FALSE,Active +GARD:1032,Legacy,GARD,,,,,,,,,,,,Brunoni syndrome,TRUE,FALSE,Retired +GARD:10320,Active,Orphanet+OMIM,OMIM:608471,Subtype of disorder,[Disease subtype],"Corneal dystrophy, lattice type iiia","[Lattice corneal dystrophy, type iiia]","Lattice corneal dystrophy type IIIA (CDL3A) is an autosomal dominant condition characterized by amyloid accumulation in the corneal stroma. It is clinically manifest as the presence of thick ropy lattice lines in the cornea. Recurrent erosions are common. Onset occurs between 70 and 90 years of age ({3:Yamamoto et al., 1998}).",[608471],[98964],[Lattice corneal dystrophy type I],[9678],,Lattice corneal dystrophy type 3A,TRUE,FALSE,Active +GARD:10321,Active,Orphanet,ORPHA:67046,Disorder,[Disease],3-methylglutaconic aciduria type 1,"[3-methylglutaconyl-CoA hydratase deficiency, 3MG-CoA hydratase deficiency, MGA1]","3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.",[250950],,,,,3-methylglutaconyl-CoA hydratase deficiency (AUH defect),TRUE,FALSE,Active +GARD:10322,Active,Orphanet,ORPHA:79157,Disorder,[Disease],2-methylbutyryl-CoA dehydrogenase deficiency,"[2-methylbutyric aciduria, Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency, SBCAD deficiency, Short/branched-chain acyl-coA dehydrogenase deficiency]","A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.",[610006],,,,,2-methylbutyryl-CoA dehydrogenase deficiency,TRUE,FALSE,Active +GARD:10323,Active,Orphanet,ORPHA:35704,Disorder,[Disease],L-Arginine:glycine amidinotransferase deficiency,[AGAT deficiency],"L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.",[612718],,,,,L-arginine:glycine amidinotransferase deficiency,TRUE,FALSE,Active +GARD:10324,Active,Orphanet,ORPHA:79253,Subtype of disorder,[Clinical subtype],Mild phenylketonuria,"[Mild PKU, Variant PKU, Variant phenylketonuria, mPKU]","A mild to moderate form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by blood phenylalanine concentrations of 600-1,200 micromol/L and manifests with reduced cognitive function and behavioral and developmental disorders. Dietary phenylalanine tolerance is 400-600 mg/day.",,,,,,Mild phenylketonuria,TRUE,FALSE,Active +GARD:10325,Legacy,GARD,,,,,,,,,,,,"Carnitine palmitoyltransferase I deficiency , muscle",TRUE,FALSE,Retired +GARD:10326,Legacy,GARD,,,,,,,,,,,,Congenital toxoplasmosis,FALSE,FALSE,Active +GARD:10327,Active,Orphanet,ORPHA:431361,Disorder,[Disease],Progressive encephalopathy with leukodystrophy due to DECR deficiency,"[2,4-dienoyl-CoA reductase deficiency, DECR deficiency with hyperlysinemia]","Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.",[616034],,,,,"2,4-Dienoyl-CoA reductase deficiency",TRUE,FALSE,Active +GARD:10328,Legacy,GARD,,,,,,,,,,,,Congenital human immunodeficiency virus,TRUE,FALSE,Active +GARD:10329,Legacy,GARD,,,,,,,,,,,,Medium-chain 3-ketoacyl-coa thiolase deficiency,TRUE,FALSE,Active +GARD:1033,Active,Orphanet,ORPHA:47,Subtype of disorder,[Clinical subtype],X-linked agammaglobulinemia,"[BTK-deficiency, Bruton type agammaglobulinemia]","A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy.","[300310, 300755]",,,,,X-linked agammaglobulinemia,TRUE,FALSE,Active +GARD:10330,Legacy,GARD,,,,,,,,,,,,Pontine hemorrhage,FALSE,FALSE,Active +GARD:10332,Active,Orphanet,ORPHA:69723,Disorder,[Disease],Tyrosinemia type 3,"[Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency, Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency, Tyrosinemia due to HPD deficiency, Tyrosinemia type III]","Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.",[276710],,,,,Tyrosinemia type 3,TRUE,FALSE,Active +GARD:10333,Active,Orphanet,ORPHA:251359,Disorder,[Disease],Sickle cell-beta-thalassemia disease syndrome,[HbS-beta-thalassemia syndrome],"A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly.",,,,,,Sickle beta thalassemia,TRUE,FALSE,Active +GARD:10334,Legacy,GARD,,,,,,,,,,,,Diffuse gastric cancer,TRUE,FALSE,Active +GARD:10335,Active,Orphanet,ORPHA:579,Disorder,[Disease],Mucopolysaccharidosis type 1,"[Alpha-L-iduronidase deficiency, MPS1, MPSI, Mucopolysaccharidosis type I]","Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.","[607016, 607014, 607015]",,,,,Mucopolysaccharidosis type I,TRUE,FALSE,Active +GARD:10336,Legacy,GARD,,,,,,,,,,,,Cytochrome p450 2D6 variant,FALSE,FALSE,Active +GARD:10339,Active,Orphanet,ORPHA:331206,Disorder,[Disease],Severe combined immunodeficiency due to complete RAG1/2 deficiency,[SCID due to complete RAG1/2 deficiency],"Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.",[601457],,,,,Severe combined immunodeficiency due to complete RAG1/2 deficiency,TRUE,FALSE,Active +GARD:1034,Legacy,GARD,,,,,,,,,,,,Bruyn Scheltens syndrome,TRUE,FALSE,Active +GARD:10340,Legacy,GARD,,,,,,,,,,,,Ménière's disease,FALSE,FALSE,Active +GARD:10341,Active,Orphanet,ORPHA:83473,Disorder,[Malformation syndrome],Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,[MPPH syndrome],"A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.","[615938, 603387, 615937]",,,,,Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome,TRUE,FALSE,Active +GARD:10342,Active,Orphanet,ORPHA:67048,Disorder,[Disease],3-methylglutaconic aciduria type 4,[MGA4],"3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).",[250951],,,,,Not otherwise specified 3-MGA-uria type,TRUE,FALSE,Active +GARD:10343,Legacy,GARD,,,,,,,,,,,,Charles Bonnet syndrome,TRUE,FALSE,Active +GARD:10344,Legacy,GARD,,,,,,,,,,,,3 methylglutaconic aciduria type V,TRUE,FALSE,Retired +GARD:10345,Legacy,GARD,,,,,,,,,,,,Dermal eccrine cylindroma,TRUE,FALSE,Active +GARD:10346,Active,Orphanet,ORPHA:100026,Subtype of disorder,[Clinical subtype],Gamma-heavy chain disease,"[Franklin disease, Gamma-HCD]",A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.,,,,,,Gamma heavy chain disease,TRUE,FALSE,Active +GARD:10347,Legacy,GARD,,,,,,,,,,,,Bizarre parosteal osteochondromatous proliferation,TRUE,FALSE,Active +GARD:10349,Legacy,GARD,,,,,,,,,,,,Lymphocytic hypophysitis,TRUE,FALSE,Active +GARD:10350,Legacy,GARD,,,,,,,,,,,,Acquired hemophilia,TRUE,FALSE,Active +GARD:10351,Active,Orphanet,ORPHA:98758,Disorder,[Disease],Spinocerebellar ataxia type 6,[SCA6],An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.,[183086],,,,,Spinocerebellar ataxia type 6,TRUE,FALSE,Active +GARD:10352,Active,Orphanet,ORPHA:71290,Disorder,[Disease],Familial platelet disorder with associated myeloid malignancy,"[FPD/AML, FPDMM, FPS/AML, Familial platelet disorder with predisposition to acute myelogenous leukemia, Familial platelet disorder with predisposition to myeloid malignancy, Familial platelet disorder with propensity to acute myeloid leukemia, Familial thrombocytopenia with propensity to acute myelogenous leukemia]","A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.","[601399, 616216]",,,,,Familial platelet disorder with associated myeloid malignancy,TRUE,FALSE,Active +GARD:10353,Active,Orphanet,ORPHA:738,Group of disorders,[Clinical group],Porphyria,,"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.",,,,,,Porphyria,TRUE,FALSE,Active +GARD:10354,Active,Orphanet,ORPHA:496693,Disorder,[Malformation syndrome],Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,[Gershoni-Baruch syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period.",[609545],,,,,Gershoni-Baruch syndrome,TRUE,FALSE,Active +GARD:10355,Active,Orphanet,ORPHA:91498,Disorder,[Disease],Familial congenital palsy of trochlear nerve,,"Familial congenital palsy of trochlear nerve is a rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.",[136480],,,,,Familial congenital palsy of trochlear nerve,TRUE,FALSE,Active +GARD:10356,Legacy,GARD,,,,,,,,,,,,"Platelet disorder, familial, with associated myeloid malignancy",TRUE,FALSE,Retired +GARD:10357,Legacy,GARD,,,,,,,,,,,,Primary release disorder of platelets,TRUE,FALSE,Active +GARD:10358,Active,Orphanet,ORPHA:166108,Disorder,[Disease],"Intellectual disability, Birk-Barel type",[Intellectual disability-hypotonia-facial dysmorphism syndrome],"Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.",[612292],,,,,Birk-Barel syndrome,TRUE,FALSE,Active +GARD:10359,Active,Orphanet+OMIM,OMIM:168100,Subtype of disorder,[Disease subtype],"Paralysis agitans, juvenile, of hunt","[Parkinson disease, juvenile, of hunt]",,[168100],[171695],[Parkinsonian-pyramidal syndrome],[9175],,"Paralysis agitans, juvenile, of Hunt",TRUE,FALSE,Active +GARD:10360,Active,Orphanet,ORPHA:251038,Disorder,[Malformation syndrome],3q29 microduplication syndrome,[Trisomy 3q29],3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.,[611936],,,,,Chromosome 3q29 microduplication syndrome,TRUE,FALSE,Active +GARD:10361,Active,Orphanet+OMIM,OMIM:611875,Subtype of disorder,[Disease subtype],Brugada syndrome 3,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of the genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[611875],[130],[Brugada syndrome],[1030],,Brugada syndrome 3,TRUE,FALSE,Active +GARD:10362,Active,Orphanet+OMIM,OMIM:611876,Subtype of disorder,[Disease subtype],Brugada syndrome 4,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of the genetic heterogeneity in Brugada syndrome, see BRGDA1 ({601144}).",[611876],[130],[Brugada syndrome],[1030],,Brugada syndrome 4,TRUE,FALSE,Active +GARD:10363,Active,Orphanet,ORPHA:79153,Disorder,[Disease],Idiopathic trachyonychia,,"A rare isolated nail anomaly characterized by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur.",[161050],,,,,Twenty-nail dystrophy,TRUE,FALSE,Active +GARD:10364,Active,Orphanet+OMIM,OMIM:612347,Subtype of disorder,[Disease subtype],Jervell and lange-nielsen syndrome 2,,"The Jervell and Lange-Nielsen syndrome is an autosomal recessive syndrome of abnormal cardiac ventricular repolarization with prolonged QT interval and bilateral congenital deafness.\n\nFor a general description and a discussion of genetic heterogeneity of Jervell and Lange-Nielsen syndrome, see {220400}.",[612347],[90647],[Jervell and Lange-Nielsen syndrome],[3048],,Jervell and Lange-Nielsen syndrome 2,TRUE,FALSE,Retired +GARD:10365,Active,Orphanet,ORPHA:70594,Disorder,[Disease],Dopa-responsive dystonia due to sepiapterin reductase deficiency,"[Autosomal recessive sepiapterin reductase-deficient DRD, DRD due to SRD, SPR deficiency, Sepiapterin reductase deficiency]","Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.",[612716],,,,,Sepiapterin reductase deficiency,TRUE,FALSE,Active +GARD:10366,Active,Orphanet,ORPHA:3339,Disorder,[Malformation syndrome],Toriello-Lacassie-Droste syndrome,"[Aplasia cutis congenita-epibulbar dermoids syndrome, Oculoectodermal syndrome]",A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital.,[600268],,,,,Oculoectodermal syndrome,TRUE,FALSE,Active +GARD:10367,Active,Orphanet,ORPHA:140936,Disorder,[Malformation syndrome],Lelis syndrome,[Ectodermal dysplasia-acanthosis nigricans syndrome],Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.,[608290],,,,,Lelis syndrome,TRUE,FALSE,Active +GARD:10369,Legacy,GARD,,,,,,,,,,,,Carotidynia,FALSE,FALSE,Active +GARD:1037,Active,Orphanet,ORPHA:2285,Disorder,[Morphological anomaly],Primary basilar invagination,[Bull-Nixon syndrome],A rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. It can be asymptomatic or associated with severe neurological dysfunction.,[109500],,,,,Primary basilar impression,TRUE,FALSE,Active +GARD:10370,Legacy,GARD,,,,,,,,,,,,Rhabdomyomatous mesenchymal hamartoma,TRUE,FALSE,Active +GARD:10371,Legacy,GARD,,,,,,,,,,,,Immunoglobulin G deficiency,FALSE,FALSE,Active +GARD:10372,Active,Orphanet,ORPHA:103909,Disorder,[Disease],Trehalase deficiency,[Isolated trehalose intolerance],"A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere.",[612119],,,,,Trehalase deficiency,TRUE,FALSE,Active +GARD:10373,Active,Orphanet+OMIM,OMIM:612099,Subtype of disorder,[Clinical subtype],"Trichoepithelioma, multiple familial, 2",,"Multiple familial trichoepithelioma (MFT) is an autosomal dominant disorder of skin appendage tumors characterized by the appearance of trichoepitheliomas.\n\nSee also MFT1 ({601606}), which is caused by mutations in the CYLD gene ({605018}) on chromosome 16q12-q13.",[612099],[867],[Familial multiple trichoepithelioma],[10867],,Multiple familial trichoepithelioma 2,TRUE,FALSE,Retired +GARD:10374,Legacy,GARD,,,,,,,,,,,,Trachoma,TRUE,FALSE,Active +GARD:10375,Legacy,GARD,,,,,,,,,,,,Clostridium difficile,FALSE,FALSE,Active +GARD:10376,Active,Orphanet+OMIM,OMIM:600105,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 12,"[Retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium, rp with or without preserved paraarteriole retinal pigment epithelium, rp with or without pprpe]",,[600105],[791],[Retinitis pigmentosa],[5694],,Retinitis pigmentosa 12,TRUE,FALSE,Active +GARD:10377,Active,Orphanet+OMIM,OMIM:312612,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 6,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[312612],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 6,TRUE,FALSE,Active +GARD:10378,Active,Orphanet+OMIM,OMIM:612165,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 29,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[612165],[791],[Retinitis pigmentosa],[5694],,Retinitis pigmentosa 29,TRUE,FALSE,Active +GARD:10379,Active,Orphanet+OMIM,OMIM:612095,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 41,"[Retinal degeneration, autosomal recessive, prominin-related]",,[612095],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 41,TRUE,FALSE,Active +GARD:1038,Active,Orphanet,ORPHA:1867,Disorder,[Disease],"Hereditary bullous dystrophy, macular type",,"A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995.",[302000],,,,,Bullous dystrophy hereditary macular type,TRUE,FALSE,Active +GARD:10380,Active,Orphanet+OMIM,OMIM:312600,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 2,,"Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population ({7:Boughman et al., 1980}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[312600],[791],[Retinitis pigmentosa],[5694],,"Retinitis pigmentosa 2, X-linked",TRUE,FALSE,Retired +GARD:10381,Active,Orphanet+OMIM,OMIM:300029,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 3,"[cone-rod degeneration, x-linked, choroidoretinal degeneration with retinal reflex in heterozygous women, Retinitis pigmentosa 15]","X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors ({15:Demirci et al., 2002}). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to become legally blind by the age of 30 to 40 years. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe RP ({22:Jin et al., 2007}). Mutation in the RPGR gene is believed to account for approximately 70% of XLRP ({38:Vervoort et al., 2000}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[300029],[791],[Retinitis pigmentosa],[5694],,Retinitis pigmentosa 3,TRUE,FALSE,Active +GARD:10382,Active,Orphanet+OMIM,OMIM:180104,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 9,,"Autosomal dominant retinitis pigmentosa (ADRP) is characterized by a typical fundus appearance, narrowed retinal vessels, and changes in the electrophysiological responses of the eye. Early signs are night blindness and constriction of the visual fields with a variable ages of onset (summary by {4:Jay et al., 1992}).",[180104],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 9,TRUE,FALSE,Active +GARD:10383,Active,Orphanet+OMIM,OMIM:600138,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 11,,"Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment.\n\nFor a discussion of genetic heterogeneity of RP, see {268000}.",[600138],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 11,TRUE,FALSE,Active +GARD:10384,Active,Orphanet+OMIM,OMIM:602772,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 25,,,[602772],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 25,TRUE,FALSE,Active +GARD:10385,Active,Orphanet+OMIM,OMIM:600132,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 14,,,[600132],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 14,TRUE,FALSE,Active +GARD:10386,Active,Orphanet+OMIM,OMIM:608133,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 7,,,[608133],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 7,TRUE,FALSE,Active +GARD:10387,Active,Orphanet+OMIM,OMIM:600852,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 17,,"Retinitis pigmentosa-17 (RP17) is characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression. Many affected individuals have preserved central vision and acuity until the sixth or seventh decades of life ({4:de Bruijn et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[600852],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 17,TRUE,FALSE,Active +GARD:10388,Active,Orphanet+OMIM,OMIM:600059,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 13,,,[600059],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 13,TRUE,FALSE,Active +GARD:10389,Active,Orphanet+OMIM,OMIM:300155,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 24,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[300155],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 24,TRUE,FALSE,Active +GARD:1039,Active,Orphanet,ORPHA:312,Disorder,[Disease],Autosomal dominant epidermolytic ichthyosis,"[BCIE, Bullous congenital ichthyosiform erythroderma, Bullous congenital ichthyosiform erythroderma of Brock, Bullous ichthyosis, EHK, EI, Epidermolytic hyperkeratosis, Ichthyosis hystrix Brocq type]","Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.","[607602, 113800]",,,,,Epidermolytic ichthyosis,TRUE,FALSE,Active +GARD:10390,Active,Orphanet+OMIM,OMIM:300605,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 34,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[300605],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 34,TRUE,FALSE,Active +GARD:10391,Active,Orphanet+OMIM,OMIM:300424,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 23,,,[300424],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 23,TRUE,FALSE,Active +GARD:10392,Active,Orphanet+OMIM,OMIM:601414,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 18,,,[601414],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 18,TRUE,FALSE,Active +GARD:10393,Active,Orphanet+OMIM,OMIM:602594,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 22,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[602594],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 22,TRUE,FALSE,Active +GARD:10394,Active,Orphanet+OMIM,OMIM:606068,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 28,,,[606068],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 28,TRUE,FALSE,Active +GARD:10395,Active,Orphanet+OMIM,OMIM:609913,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 32,,,[609913],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 32,TRUE,FALSE,Active +GARD:10396,Active,Orphanet+OMIM,OMIM:609923,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 31,,,[609923],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 31,TRUE,FALSE,Active +GARD:10397,Active,Orphanet+OMIM,OMIM:608380,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 26,,,[608380],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 26,TRUE,FALSE,Active +GARD:10398,Active,Orphanet+OMIM,OMIM:601718,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 19,,,[601718],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 19,TRUE,FALSE,Active +GARD:10399,Legacy,GARD,,,,,,,,,,,,Retinitis Pigmentosa 15,TRUE,FALSE,Active +GARD:104,Active,Orphanet,ORPHA:2704,Disorder,[Malformation syndrome],Ochoa syndrome,"[Hydronephrosis-inverted smile syndrome, Inverted smile-neurogenic bladder syndrome, Partial facial palsy with urinary abnormalities, Urofacial syndrome]",Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.,"[236730, 615112]",,,,,Ochoa syndrome,TRUE,FALSE,Active +GARD:10400,Active,Orphanet+OMIM,OMIM:610359,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 33,,,[610359],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 33,TRUE,FALSE,Active +GARD:10401,Active,Orphanet+OMIM,OMIM:607921,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 30,,,[607921],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 30,TRUE,FALSE,Active +GARD:10402,Active,Orphanet+OMIM,OMIM:610282,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 35,,,[610282],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 35,TRUE,FALSE,Active +GARD:10403,Active,Orphanet+OMIM,OMIM:610599,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 36,,,[610599],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 36,TRUE,FALSE,Active +GARD:10404,Active,Orphanet+OMIM,OMIM:613794,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 20,,,[613794],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 20,TRUE,FALSE,Active +GARD:10405,Active,Orphanet+OMIM,OMIM:613731,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 4,"[Retinitis pigmentosa, rhodopsin-related]",,[613731],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 4,TRUE,FALSE,Active +GARD:10406,Legacy,GARD,,,,,,,,,,,,Scurvy,TRUE,FALSE,Active +GARD:10407,Active,Orphanet,ORPHA:293987,Disorder,[Disease],Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome,"[ROHHAD, ROHHADNET, Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome]","A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated.",,,,,,ROHHAD,TRUE,FALSE,Active +GARD:10409,Legacy,GARD,,,,,,,,,,,,Digestive System Melanoma,TRUE,FALSE,Active +GARD:1041,Legacy,GARD,,,,,,,,,,,,Burn Goodship syndrome,TRUE,FALSE,Active +GARD:10410,Legacy,GARD,,,,,,,,,,,,Primary malignant melanoma of the conjunctiva,TRUE,FALSE,Active +GARD:10411,Active,Orphanet,ORPHA:370396,Disorder,[Disease],Small cell carcinoma of the ovary,"[SCCO, Small cell ovarian carcinoma]","Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.",,,,,,Ovarian small cell carcinoma,TRUE,FALSE,Active +GARD:10412,Legacy,GARD,,,,,,,,,,,,Spitz nevus,TRUE,FALSE,Active +GARD:10413,Active,Orphanet,ORPHA:730,Disorder,[Disease],Autosomal dominant polycystic kidney disease,[ADPKD],"A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD).","[600666, 613095, 173900]",,,,,Autosomal dominant polycystic kidney disease,FALSE,FALSE,Active +GARD:10414,Active,Orphanet,ORPHA:329984,Subtype of disorder,[Clinical subtype],Goblet cell carcinoma,"[GCC, Goblet cell adenocarcinoid, Goblet cell carcinoid, Goblet cell tumor]","Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix (see this term) presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.",,,,,,Goblet cell carcinoid,TRUE,FALSE,Active +GARD:10415,Legacy,GARD,,,,,,,,,,,,Familial breast cancer,FALSE,FALSE,Active +GARD:10416,Active,Orphanet,ORPHA:391665,Disorder,[Disease],Homozygous familial hypercholesterolemia,[HoFH],"A rare disorder of lipid metabolism characterized by severely elevated low-density lipoprotein cholesterol levels and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of cardiovascular disease at an early age. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction.","[143890, 144010, 602247, 603813]",,,,,Familial hypercholesterolemia,FALSE,FALSE,Active +GARD:10417,Active,Orphanet,ORPHA:465508,Disorder,[Disease],Symptomatic form of hemochromatosis type 1,"[Symptomatic form of HFE-related hereditary hemochromatosis, Symptomatic form of classic hemochromatosis]","Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.",[235200],,,,,Hemochromatosis type 1,FALSE,FALSE,Active +GARD:10418,Active,Orphanet,ORPHA:448,Group of disorders,[Clinical group],Hemophilia,,A rare hematological disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.,,,,,,Hemophilia,TRUE,FALSE,Active +GARD:10419,Active,Orphanet,ORPHA:206647,Group of disorders,[Clinical group],Myotonic dystrophy,,,,,,,,Myotonic dystrophy,TRUE,FALSE,Active +GARD:1042,Legacy,GARD,,,,,,,,,,,,Burnett Schwartz Berberian syndrome,TRUE,FALSE,Retired +GARD:10420,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis,TRUE,FALSE,Active +GARD:10421,Legacy,GARD,,,,,,,,,,,,Skin cancer,FALSE,FALSE,Active +GARD:10422,Legacy,GARD,,,,,,,,,,,,Cholesteatoma,TRUE,FALSE,Active +GARD:10423,Active,Orphanet,ORPHA:35656,Group of disorders,[Clinical group],Coenzyme Q10 deficiency,[CoQ10 deficiency],,,,,,,Coenzyme Q10 deficiency,TRUE,FALSE,Active +GARD:10424,Active,Orphanet,ORPHA:199354,Disorder,[Disease],Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,"[CARASIL, Maeda syndrome]","CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.",[600142],,,,,Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy,TRUE,FALSE,Active +GARD:10426,Legacy,GARD,,,,,,,,,,,,"Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension",TRUE,FALSE,Retired +GARD:10427,Active,Orphanet,ORPHA:181,Subtype of disorder,[Etiological subtype],X-linked hypohidrotic ectodermal dysplasia,"[Christ-Siemens-Touraine syndrome, X-linked anhidrotic ectodermal dysplasia, XHED]",,[305100],,,,,X-linked hypohidrotic ectodermal dysplasia,TRUE,FALSE,Active +GARD:10428,Active,Orphanet,ORPHA:441,Disorder,[Disease],Pure autonomic failure,"[Bradbury-Eggleston syndrome, Idiopathic orthostatic hypotension, PAF, Pure dysautonomia, Pure idiopatic dysautonomia]",Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.,,,,,,Pure autonomic failure,TRUE,FALSE,Active +GARD:10429,Active,Orphanet,ORPHA:93304,Disorder,[Malformation syndrome],Autosomal dominant brachyolmia,[Brachyolmia type 3],"A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.",[113500],,,,,Brachyolmia type 3,TRUE,FALSE,Active +GARD:10430,Active,Orphanet,ORPHA:33069,Disorder,[Disease],Dravet syndrome,"[SMEI, Severe myoclonic epilepsy of infancy, Severe myoclonus epilepsy of infancy]","A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.","[607208, 612164, 615744]",,,,,Dravet syndrome,TRUE,FALSE,Active +GARD:10431,Legacy,GARD,,,,,,,,,,,,Endemic Kaposi sarcoma,TRUE,FALSE,Active +GARD:10432,Active,Orphanet+OMIM,OMIM:600919,Subtype of disorder,[Disease subtype],"Cardiac arrhythmia, ankyrin-b-related",[Ankyrin-b syndrome],"Loss-of-function mutations in ANK2 can result in a broad spectrum of clinical cardiac phenotypes. Carriers of some mutations (e.g., E1425G, {106410.0001}) display QT interval prolongation, stress- and/or exercise-induced polymorphic ventricular arrhythmia, syncope, and sudden cardiac death. Patients with other variants show clinical phenotypes, sometimes mild, extending beyond LQTS, leading to the label 'ankyrin-B syndrome.' These phenotypes include bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia ({1:Mohler et al., 2007}).",[600919],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 4,TRUE,FALSE,Active +GARD:10433,Active,Orphanet+OMIM,OMIM:613695,Subtype of disorder,[Disease subtype],Long qt syndrome 5,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({1:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[613695],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 5,TRUE,FALSE,Active +GARD:10434,Active,Orphanet+OMIM,OMIM:613693,Subtype of disorder,[Disease subtype],Long qt syndrome 6,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({2:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[613693],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 6,TRUE,FALSE,Active +GARD:10435,Active,Orphanet+OMIM,OMIM:611818,Subtype of disorder,[Disease subtype],Long qt syndrome 9,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({2:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[611818],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 9,TRUE,FALSE,Active +GARD:10436,Active,Orphanet+OMIM,OMIM:611819,Subtype of disorder,[Disease subtype],Long qt syndrome 10,,,[611819],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 10,TRUE,FALSE,Active +GARD:10437,Active,Orphanet+OMIM,OMIM:611820,Subtype of disorder,[Disease subtype],Long qt syndrome 11,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({2:Jongbloed et al., 1999}).",[611820],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 11,TRUE,FALSE,Active +GARD:10438,Legacy,GARD,,,,,,,,,,,,Microcystic adnexal carcinoma,TRUE,FALSE,Active +GARD:10439,Legacy,GARD,,,,,,,,,,,,Hidradenocarcinoma,TRUE,FALSE,Active +GARD:1044,Active,Orphanet,ORPHA:1306,Disorder,[Malformation syndrome],Buschke-Ollendorff syndrome,[Disseminated dermatofibrosis with osteopoikilosis],Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.,[166700],,,,,Buschke-Ollendorff syndrome,TRUE,FALSE,Active +GARD:10440,Legacy,GARD,,,,,,,,,,,,Neonatal meningitis,TRUE,FALSE,Active +GARD:10441,Legacy,GARD,,,,,,,,,,,,Lathyrism,TRUE,FALSE,Active +GARD:10442,Legacy,GARD,,,,,,,,,,,,Cassavism,TRUE,FALSE,Active +GARD:10443,Active,Orphanet,ORPHA:477738,Disorder,[Disease],Pediatric multiple sclerosis,,"Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.",,,,,,Pediatric multiple sclerosis,TRUE,FALSE,Active +GARD:10444,Legacy,GARD,,,,,,,,,,,,Neonatal stroke,TRUE,FALSE,Active +GARD:10445,Active,Orphanet,ORPHA:101028,Disorder,[Disease],Transaldolase deficiency,[TALDO deficiency],"Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.",[606003],,,,,Transaldolase deficiency,TRUE,FALSE,Active +GARD:10446,Legacy,GARD,,,,,,,,,,,,Cerebral palsy spastic monoplegic,TRUE,FALSE,Active +GARD:10447,Legacy,GARD,,,,,,,,,,,,Cerebral palsy spastic quadriplegic,TRUE,FALSE,Active +GARD:10448,Legacy,GARD,,,,,,,,,,,,Cerebral palsy spastic hemiplegic,TRUE,FALSE,Active +GARD:10449,Legacy,GARD,,,,,,,,,,,,Cerebral palsy athetoid,TRUE,FALSE,Active +GARD:1045,Legacy,GARD,,,,,,,,,,,,Bustos Simosa Pinto Cisternas syndrome,TRUE,FALSE,Active +GARD:10450,Legacy,GARD,,,,,,,,,,,,Cerebral palsy,FALSE,FALSE,Active +GARD:10451,Legacy,GARD,,,,,,,,,,,,Cerebral palsy ataxic,TRUE,FALSE,Active +GARD:10452,Legacy,GARD,,,,,,,,,,,,Hepatic encephalopathy,TRUE,FALSE,Active +GARD:10453,Active,Orphanet,ORPHA:178509,Disorder,[Disease],Perry syndrome,[Parkinsonism with alveolar hypoventilation and mental depression],"A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.",[168605],,,,,Perry syndrome,TRUE,FALSE,Active +GARD:10454,Legacy,GARD,,,,,,,,,,,,Brunsting-Perry syndrome,TRUE,FALSE,Active +GARD:10455,Legacy,GARD,,,,,,,,,,,,Familial pulmonary arterial hypertension leucopenia and atrial septal defect,TRUE,FALSE,Active +GARD:10456,Legacy,GARD,,,,,,,,,,,,Polyosteolysis/hyperostosis syndrome,TRUE,FALSE,Active +GARD:10457,Active,Orphanet,ORPHA:99885,Disorder,[Disease],Isolated permanent neonatal diabetes mellitus,"[Isolated PNDM, Monogenic diabetes of infancy]","Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.","[618856, 618857, 606176, 618858]",,,,,Permanent neonatal diabetes mellitus,TRUE,FALSE,Active +GARD:10458,Legacy,GARD,,,,,,,,,,,,"Recessive developmental delay, small stature, microcephaly and brain calcifications",TRUE,FALSE,Draft +GARD:10459,Legacy,GARD,,,,,,,,,,,,Cerebrocostomandibular-like syndrome,TRUE,FALSE,Active +GARD:10460,Active,Orphanet,ORPHA:438274,Disorder,[Disease],GCGR-related hyperglucagonemia,[Mahvash disease],"A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.",[619290],,,,,Mahvash disease,TRUE,FALSE,Active +GARD:10463,Legacy,GARD,,,,,,,,,,,,Papillary eccrine adenoma,TRUE,FALSE,Active +GARD:10464,Legacy,GARD,,,,,,,,,,,,Malignant cylindroma,TRUE,FALSE,Active +GARD:10465,Legacy,GARD,,,,,,,,,,,,Eccrine mucinous carcinoma,TRUE,FALSE,Active +GARD:10466,Legacy,GARD,,,,,,,,,,,,Malignant eccrine spiradenoma,TRUE,FALSE,Active +GARD:10467,Active,Orphanet,ORPHA:464321,Disorder,[Disease],Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome,"[Cutaneovisceral angiomatosis-thrombocytopenia syndrome, MLT, Multifocal lymphangioendotheliomatosis with thrombocytopenia]","A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma.",,,,,,Multifocal lymphangioendotheliomatosis with thrombocytopenia,TRUE,FALSE,Active +GARD:10468,Legacy,GARD,,,,,,,,,,,,Cardiac rupture,TRUE,FALSE,Active +GARD:10469,Active,Orphanet,ORPHA:98759,Disorder,[Disease],Spinocerebellar ataxia type 17,"[HDL4, Huntington disease-like 4, SCA17]","Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.",[607136],,,,,Spinocerebellar ataxia 17,TRUE,FALSE,Active +GARD:10470,Legacy,GARD,,,,,,,,,,,,BK-virus nephropathy,TRUE,FALSE,Active +GARD:10471,Active,Orphanet,ORPHA:34514,Disorder,[Disease],Telethonin-related limb-girdle muscular dystrophy R7,"[Autosomal recessive limb-girdle muscular dystrophy type 2G, LGMD due to telethonin deficiency, LGMD type 2G, LGMD2G, Limb-girdle muscular dystrophy due to telethonin deficiency, Limb-girdle muscular dystrophy type 2G, Telethonin-related LGMD R7]","A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.",[601954],,,,,"Limb-girdle muscular dystrophy, type 2G",TRUE,FALSE,Active +GARD:10472,Active,Orphanet,ORPHA:79314,Disorder,[Disease],L-2-hydroxyglutaric aciduria,"[L-2-HGA, L-2-hydroxyglutaric acidemia]","L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.",[236792],,,,,L-2-hydroxyglutaric aciduria,TRUE,FALSE,Active +GARD:10473,Legacy,GARD,,,,,,,,,,,,Usual interstitial pneumonia,TRUE,FALSE,Retired +GARD:10474,Active,Orphanet,ORPHA:98761,Disorder,[Disease],Spinocerebellar ataxia type 10,[SCA10],"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.",[603516],,,,,Spinocerebellar ataxia 10,TRUE,FALSE,Active +GARD:10475,Active,Orphanet,ORPHA:98767,Disorder,[Disease],Spinocerebellar ataxia type 11,[SCA11],"A rare neurologic disease that is characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.",[604432],,,,,Spinocerebellar ataxia 11,TRUE,FALSE,Active +GARD:10476,Active,Orphanet,ORPHA:98762,Disorder,[Disease],Spinocerebellar ataxia type 12,[SCA12],Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.,[604326],,,,,Spinocerebellar ataxia 12,TRUE,FALSE,Active +GARD:10477,Active,Orphanet,ORPHA:98769,Disorder,[Disease],Spinocerebellar ataxia type 15/16,[SCA15/16],"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.",[606658],,,,,Spinocerebellar ataxia 15,TRUE,FALSE,Active +GARD:10480,Active,Orphanet,ORPHA:208513,Disorder,[Disease],Spinocerebellar ataxia type 29,"[Congenital nonprogressive spinocerebellar ataxia, SCA29]","An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.",[117360],,,,,Spinocerebellar ataxia 29,TRUE,FALSE,Active +GARD:10481,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia 9,TRUE,FALSE,Active +GARD:10482,Legacy,GARD,,,,,,,,,,,,Indolent B cell lymphoma,TRUE,FALSE,Active +GARD:10483,Legacy,GARD,,,,,,,,,,,,Patent ductus venosus,TRUE,FALSE,Active +GARD:10484,Active,Orphanet,ORPHA:238455,Disorder,[Disease],Infantile dystonia-parkinsonism,"[IPD, PKDYS]",Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.,[613135],,,,,Dopamine transporter deficiency syndrome,TRUE,FALSE,Active +GARD:10485,Legacy,GARD,,,,,,,,,,,,Morphea,TRUE,FALSE,Active +GARD:10486,Active,Orphanet,ORPHA:54595,Disorder,[Disease],Craniopharyngioma,,Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.,,,,,,Craniopharyngioma,TRUE,FALSE,Active +GARD:10487,Active,Orphanet+OMIM,OMIM:611755,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 10,,"Leber congenital amaurosis is a severe retinal dystrophy, causing blindness or severe visual impairment at birth or during the first months of life (summary by {3:den Hollander et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}).",[611755],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 10,TRUE,FALSE,Active +GARD:10488,Active,Orphanet+OMIM,OMIM:613837,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 11,,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {2:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[613837],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 11,TRUE,FALSE,Active +GARD:10489,Active,Orphanet+OMIM,OMIM:610612,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 12,,,[610612],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 12,TRUE,FALSE,Active +GARD:1049,Active,Orphanet,ORPHA:136,Disorder,[Disease],Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,"[CADASIL, Hereditary multi-infarct dementia]",CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.,[125310],,,,,CADASIL,TRUE,FALSE,Active +GARD:10490,Active,Orphanet+OMIM,OMIM:613826,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 6,,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {1:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[613826],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 6,TRUE,FALSE,Active +GARD:10491,Active,Orphanet,ORPHA:86897,Disorder,[Disease],Langerhans cell sarcoma,,"A rare dendritic cell tumor characterized by an aggressive, high-grade neoplasm derived from Langerhans cells, most commonly extranodal and multifocal, involving the skin and underlying soft tissue, as well as lung, liver, spleen, and bone. Primary nodal involvement is seen in a minority of patients. Immune-phenotyping and the presence of Birbeck granules on ultrastructural examination reveal the Langerhans cell derivation of the neoplastic cells. Prognosis is generally poor.",,,,,,Langerhans cell sarcoma,TRUE,FALSE,Active +GARD:10493,Active,Orphanet,ORPHA:86873,Disorder,[Disease],Aggressive NK-cell leukemia,"[ANKCL, Aggressive NK-cell lymphoma, NK-cell LGL leukemia, NK-cell large granular lymphocyte leukemia]","An extremely rare and highly aggressive neoplasm, usually manifesting in the third to fourth decade of life, affecting males and females equally, and characterized by the onset of high fever, weight loss, jaundice, skin infiltration, lymphadenopathy, hepatosplenomegaly, and severe anemia. It has a fulminant and rapidly fatal disease course with the progressive appearance of multiorgan failure and disseminated intravascular coagulation.",,,,,,Aggressive NK cell leukemia,TRUE,FALSE,Active +GARD:10494,Active,Orphanet,ORPHA:70588,Disorder,[Disease],Meconium aspiration syndrome,,"Meconium aspiration syndrome is a pulmonary complication appearing in newborns with a meconium-stained amniotic fluid. Aspirated meconium can interfere with normal breathing by several mechanisms including airway obstruction, chemical irritation, infection and surfactant inactivation and induces more or less severe signs of respiratory distress at birth.",,,,,,Meconium aspiration syndrome,TRUE,FALSE,Active +GARD:10495,Legacy,GARD,,,,,,,,,,,,Wilson-Mikity syndrome,TRUE,FALSE,Retired +GARD:10496,Active,Orphanet+OMIM,OMIM:612577,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 11,,,[612577],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 11,TRUE,FALSE,Active +GARD:10497,Legacy,GARD,,,,,,,,,,,,Amyotrophic lateral sclerosis type 10,TRUE,FALSE,Active +GARD:10498,Active,Orphanet+OMIM,OMIM:611895,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 9,,,[611895],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 9,TRUE,FALSE,Active +GARD:10499,Active,Orphanet+OMIM,OMIM:608627,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 8,,,[608627],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 8,TRUE,FALSE,Active +GARD:105,Active,Orphanet,ORPHA:2719,Disorder,[Malformation syndrome],"Oculocerebral hypopigmentation syndrome, Cross type",[Cross syndrome],"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.",[257800],,,,,Oculocerebral syndrome with hypopigmentation,TRUE,FALSE,Active +GARD:1050,Legacy,GARD,,,,,,,,,,,,"Cafe au lait spots, multiple",TRUE,FALSE,Retired +GARD:10500,Active,Orphanet+OMIM,OMIM:608031,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 7,,"For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 ({105400}).",[608031],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 7,TRUE,FALSE,Active +GARD:10501,Active,Orphanet+OMIM,OMIM:606640,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 3,,"Amyotrophic lateral sclerosis-3 (ALS3) is a neurodegenerative disorder characterized by the death of motor neurons in the cortex, brainstem, and spinal cord, resulting in progressive muscle weakness and atrophy and death from respiratory failure, usually within 3 to 5 years of symptom onset ({1:Brown, 1995}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400}).",[606640],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 3,TRUE,FALSE,Active +GARD:10502,Active,Orphanet,ORPHA:357043,Disorder,[Disease],Amyotrophic lateral sclerosis type 4,"[ALS4, Distal hereditary motor neuropathy with upper motor neuron signs, dHMN with upper motor neuron signs]","A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord.",[602433],,,,,Amyotrophic lateral sclerosis type 4,TRUE,FALSE,Active +GARD:10503,Legacy,GARD,,,,,,,,,,,,Amyotrophic lateral sclerosis type 5,TRUE,FALSE,Active +GARD:10504,Active,Orphanet,ORPHA:63260,Disorder,[Morphological anomaly],Craniorachischisis,,Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.,,,,,,Craniorachischisis,TRUE,FALSE,Active +GARD:10505,Active,Orphanet,ORPHA:98562,Group of disorders,[Category],Cryptophthalmia,,,,,,,,Cryptophthalmos,TRUE,FALSE,Active +GARD:10506,Active,Orphanet,ORPHA:63259,Disorder,[Morphological anomaly],Iniencephaly,,Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.,,,,,,Iniencephaly,TRUE,FALSE,Active +GARD:10507,Legacy,GARD,,,,,,,,,,,,Preauricular sinus,FALSE,FALSE,Active +GARD:10508,Active,Orphanet,ORPHA:89938,Subtype of disorder,[Clinical subtype],Bartter syndrome type 4,"[Bartter syndrome type IV, Bartter syndrome with sensorineural deafness, Bartter syndrome with sensorineural hearing loss]","A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.","[602522, 613090]",,,,,Bartter syndrome type 4,TRUE,FALSE,Active +GARD:10509,Active,Orphanet,ORPHA:79087,Disorder,[Disease],Acquired partial lipodystrophy,"[Barraquer-Simons syndrome, Progressive cephalothoracic lipodystrophy]","A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor.",[608709],,,,,Barraquer-Simons syndrome,TRUE,FALSE,Active +GARD:1051,Active,Orphanet,ORPHA:1310,Disorder,[Malformation syndrome],Caffey disease,[Infantile cortical hyperostosis],"Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.",[114000],,,,,Caffey disease,TRUE,FALSE,Active +GARD:10510,Active,Orphanet,ORPHA:248111,Disorder,[Disease],Juvenile Huntington disease,"[JHD, Juvenile Huntington chorea]","Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.",[143100],,,,,Juvenile Huntington disease,TRUE,FALSE,Active +GARD:10511,Active,Orphanet+OMIM,OMIM:136900,Subtype of disorder,[Disease subtype],Sorsby fundus dystrophy,"[macular dystrophy, hemorrhagic, Fundus dystrophy, pseudoinflammatory, of sorsby]","Sorsby fundus dystrophy is an autosomal dominant retinal dystrophy characterized by the loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life (summary by {22:Wijesuriya et al., 1996}).",[136900],[59181],[Sorsby pseudoinflammatory fundus dystrophy],[16480],,"Fundus dystrophy, pseudoinflammatory, of Sorsby",TRUE,FALSE,Active +GARD:10512,Legacy,GARD,,,,,,,,,,,,Kniest-like dysplasia with pursed lips and ectopia lentis,TRUE,FALSE,Active +GARD:10513,Active,Orphanet,ORPHA:171866,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, aggrecan type","[SEMD, aggrecan type]","Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.",[612813],,,,,"Spondyloepimetaphyseal dysplasia, Aggrecan type",TRUE,FALSE,Active +GARD:10514,Active,Orphanet,ORPHA:199343,Disorder,[Disease],EAST syndrome,"[Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome, Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome, SeSAME syndrome, Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome, Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome]","A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.",[612780],,,,,SeSAME syndrome,TRUE,FALSE,Active +GARD:10515,Active,Orphanet,ORPHA:95430,Disorder,[Morphological anomaly],Congenital tracheomalacia,[Congenital major airway collapse],"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.",,,,,,Congenital tracheomalacia,TRUE,FALSE,Active +GARD:10516,Active,Orphanet,ORPHA:210115,Disorder,[Disease],Sterile multifocal osteomyelitis with periostitis and pustulosis,"[Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency, DIRA, Interleukin-1 receptor antagonist deficiency, OMPP]","Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.",[612852],,,,,Deficiency of interleukin-1 receptor antagonist,TRUE,FALSE,Active +GARD:10517,Active,Orphanet+OMIM,OMIM:601499,Subtype of disorder,[Malformation syndrome subtype],"Axenfeld-rieger syndrome, type 2",,"Axenfeld-Rieger syndrome is a disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals. Systemic abnormalities, including cardiac and dental anomalies, are associated.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity and nomenclature of Axenfeld-Rieger syndrome, see RIEG1 ({180500}).",[601499],[782],[Axenfeld-Rieger syndrome],[5701],,Axenfeld-Rieger syndrome type 2,TRUE,FALSE,Retired +GARD:10518,Active,Orphanet,ORPHA:2752,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 3,"[OFD3, Oral-facial-digital syndrome type 3, Sugarman syndrome]","Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.",[258850],,,,,Orofaciodigital syndrome 3,TRUE,FALSE,Active +GARD:1052,Active,Orphanet,ORPHA:1375,Disorder,[Malformation syndrome],Cataract-hypertrichosis-intellectual disability syndrome,[CAHMR syndrome],"Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.",[211770],,,,,CAHMR syndrome,TRUE,FALSE,Retired +GARD:10520,Active,Orphanet,ORPHA:141007,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 9,"[OFD9, Oral-facial-digital syndrome type 9, Oral-facial-digital syndrome with retinal abnormalities, Orofaciodigital syndrome with retinal abnormalities]","Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).",[258865],,,,,Orofaciodigital syndrome 9,TRUE,FALSE,Active +GARD:10521,Legacy,GARD,,,,,,,,,,,,Familial eosinophilia,TRUE,FALSE,Active +GARD:10522,Active,Orphanet,ORPHA:330054,Disorder,[Disease],Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,[Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome],"Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.",[613076],,,,,"Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay",TRUE,FALSE,Active +GARD:10523,Active,Orphanet,ORPHA:317430,Subtype of disorder,[Clinical subtype],Combined immunodeficiency due to STIM1 deficiency,[CID due to STIM1 deficiency],"Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.",[612783],,,,,Immune dysfunction with T-cell inactivation due to calcium entry defect 2,TRUE,FALSE,Active +GARD:10524,Active,Orphanet,ORPHA:317428,Subtype of disorder,[Clinical subtype],Combined immunodeficiency due to ORAI1 deficiency,[CID due to ORAI1 deficiency],"Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.",[612782],,,,,Immune dysfunction with T-cell inactivation due to calcium entry defect 1,TRUE,FALSE,Active +GARD:10525,Active,Orphanet,ORPHA:261183,Disorder,[Malformation syndrome],15q11.2 microdeletion syndrome,"[15q11.2 BP1-BP2 microdeletion syndrome, Del(15)(q11.2), Monosomy 15q11.2]","15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).",[615656],,,,,15q11.2 microdeletion,TRUE,FALSE,Active +GARD:10526,Active,Orphanet,ORPHA:69083,Disorder,[Malformation syndrome],"Ectodermal dysplasia with natal teeth, Turnpenny type",,"A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.",[601345],,,,,Ectodermal dysplasia with natal teeth Turnpenny type,TRUE,FALSE,Active +GARD:10527,Legacy,GARD,,,,,,,,,,,,Levy-Yeboa syndrome,TRUE,FALSE,Retired +GARD:10528,Active,Orphanet,ORPHA:2025,Disorder,[Malformation syndrome],Gingival fibromatosis-facial dysmorphism syndrome,,A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.,[228560],,,,,Gingival fibromatosis with distinctive facies,TRUE,FALSE,Active +GARD:10529,Active,Orphanet,ORPHA:593,Group of disorders,[Category],Myofibrillar myopathy,,"Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.",,,,,,Myofibrillar myopathy,TRUE,FALSE,Active +GARD:1053,Active,Orphanet,ORPHA:220402,Subtype of disorder,[Clinical subtype],Limited cutaneous systemic sclerosis,[Limited cutaneous systemic scleroderma],"Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.",[181750],,,,,Limited cutaneous systemic sclerosis,TRUE,FALSE,Active +GARD:10531,Legacy,GARD,,,,,,,,,,,,Vernal keratitis,TRUE,FALSE,Active +GARD:10533,Active,Orphanet,ORPHA:53351,Disorder,[Disease],X-linked dystonia-parkinsonism,"[DYT3, Lubag, Lubag syndrome, XDP]","X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.",[314250],,,,,X-linked dystonia-parkinsonism/Lubag,TRUE,FALSE,Active +GARD:10534,Legacy,GARD,,,,,,,,,,,,"Hereditary endotheliopathy, retinopathy, nephropathy, and stroke",TRUE,FALSE,Retired +GARD:10535,Legacy,GARD,,,,,,,,,,,,Hereditary vascular retinopathy,TRUE,FALSE,Active +GARD:10536,Active,Orphanet,ORPHA:370103,Disorder,[Disease],"Primary dystonia, DYT17 type",,"Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.",[612406],,,,,Dystonia 17,TRUE,FALSE,Retired +GARD:10537,Active,Orphanet,ORPHA:98807,Disorder,[Disease],"Primary dystonia, DYT13 type","[DYT13, Primary dystonia with mixed phenotype, Primary torsion dystonia with predominant craniocervical or upper limb onset]","A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.",[607671],,,,,Dystonia 13,TRUE,FALSE,Retired +GARD:10538,Active,Orphanet,ORPHA:171629,Disorder,[Disease],Autosomal recessive spastic paraplegia type 35,[SPG35],"Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.",[612319],,,,,"Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia",TRUE,FALSE,Active +GARD:10539,Active,Orphanet,ORPHA:210571,Disorder,[Disease],Dystonia 16,"[DYT16, Early-onset dystonia parkinsonism]","Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.",[612067],,,,,DYT-PRKRA,TRUE,FALSE,Active +GARD:10540,Legacy,GARD,,,,,,,,,,,,Dystonia 19,TRUE,FALSE,Retired +GARD:10541,Active,Orphanet,ORPHA:98811,Disorder,[Disease],Paroxysmal exertion-induced dyskinesia,"[DYT18, Dystonia 18, PED]","Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.",[612126],,,,,Paroxysmal exertion-induced dyskinesia,TRUE,FALSE,Active +GARD:10542,Legacy,GARD,,,,,,,,,,,,Lipedema,FALSE,FALSE,Active +GARD:10543,Legacy,GARD,,,,,,,,,,,,Duodenal carcinoid syndrome,TRUE,FALSE,Active +GARD:10544,Active,Orphanet+OMIM,OMIM:601650,Subtype of disorder,[Disease subtype],Paragangliomas 2,"[Glomus tumors, familial, 2]",,[601650],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,Paragangliomas 2,TRUE,FALSE,Active +GARD:10545,Active,Orphanet+OMIM,OMIM:605373,Subtype of disorder,[Disease subtype],Paragangliomas 3,"[Glomus tumors, familial, 3]",,[605373],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,Paragangliomas 3,TRUE,FALSE,Active +GARD:10546,Active,Orphanet+OMIM,OMIM:115310,Subtype of disorder,[Disease subtype],Paragangliomas 4,"[paraganglioma, familial malignant, pheochromocytoma, familial extraadrenal, paragangliomas, hereditary extraadrenal, Carotid body tumors and multiple extraadrenal pheochromocytomas, pheochromocytoma, extraadrenal, and cervical paraganglioma]",,[115310],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,Paragangliomas 4,TRUE,FALSE,Active +GARD:10547,Legacy,GARD,,,,,,,,,,,,Syringoma,FALSE,FALSE,Active +GARD:10548,Legacy,GARD,,,,,,,,,,,,Mycobacterium Abscessus,TRUE,FALSE,Active +GARD:10549,Legacy,GARD,,,,,,,,,,,,Mycobacterium Malmoense,TRUE,FALSE,Active +GARD:1055,Legacy,GARD,,,,,,,,,,,,Calloso-genital dysplasia,TRUE,FALSE,Active +GARD:10550,Legacy,GARD,,,,,,,,,,,,Mycobacterium Xenopi,TRUE,FALSE,Active +GARD:10551,Legacy,GARD,,,,,,,,,,,,Mycobacterium Kansasii,TRUE,FALSE,Active +GARD:10552,Legacy,GARD,,,,,,,,,,,,Mycobacterium Chelonae,TRUE,FALSE,Active +GARD:10553,Legacy,GARD,,,,,,,,,,,,Mycobacterium Gordonae,TRUE,FALSE,Active +GARD:10555,Legacy,GARD,,,,,,,,,,,,Trabecular myopathy,TRUE,FALSE,Retired +GARD:10556,Active,Orphanet,ORPHA:86870,Disorder,[Disease],CD4+/CD56+ hematodermic neoplasm,"[BPDCN, Blastic NK-cell lymphoma, Blastic plasmacytoid dendritic cell neoplasm, Lymphoblastoid variant of NK-cell lymphoma, Monomorphic NK-cell lymphoma]","A rare hematologic neoplasm characterized by origin from precursors of plasmacytoid dendritic cells, with frequent cutaneous, bone marrow, and lymph node involvement, as well as leukemic dissemination. Most common clinical presentation is with asymptomatic solitary or multiple skin lesions (either isolated purplish nodules, isolated bruise-like papules, or disseminated purplish nodules/macules/papules), although some patients may present with leukemia. Skin biopsy shows a diffuse, monomorphous infiltrate of medium-sized blast cells resembling either lymphoblasts or myeloblasts, with massive involvement of the dermis. The clinical course is aggressive, and age has an adverse impact on prognosis.",,,,,,Blastic plasmacytoid dendritic cell,TRUE,FALSE,Active +GARD:10557,Active,Orphanet,ORPHA:1727,Disorder,[Malformation syndrome],22q11.2 duplication syndrome,"[22q11.2 microduplication syndrome, Dup(22)(q11), Duplication 22q11.2, Trisomy 22q11.2]","A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.",[608363],,,,,22q11.2 duplication syndrome,TRUE,FALSE,Active +GARD:10558,Legacy,GARD,,,,,,,,,,,,Myoepithelial carcinoma,TRUE,FALSE,Active +GARD:10559,Active,Orphanet,ORPHA:264665,Group of disorders,[Category],Primary interstitial lung disease specific to childhood,[Primary ILD specific to childhood],,,,,,,Children's interstitial lung disease,TRUE,FALSE,Active +GARD:10560,Active,Orphanet,ORPHA:85445,Disorder,[Disease],AA amyloidosis,"[Inflammatory amyloidosis, Reactive amyloidosis, Secondary amyloidosis]","A rare amyloidosis that complicates chronic inflammatory disorders and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. The kidney is involved in virtually all patients and dominates the clinical picture. Other frequently involved sites are the liver, the spleen, suprarenal gland, gut and less frequently the heart.",,,,,,Amyloidosis AA,TRUE,FALSE,Active +GARD:10562,Active,Orphanet,ORPHA:137810,Disorder,[Disease],Nodular cutaneous amyloidosis,"[PLCNA, Primary localized cutaneous nodular amyloidosis]","Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren’s syndrome and CREST syndrome (see these terms).",,,,,,Primary localized cutaneous nodular amyloidosis,TRUE,FALSE,Active +GARD:10563,Legacy,GARD,,,,,,,,,,,,Amyloidosis Beta2M,TRUE,FALSE,Active +GARD:10564,Legacy,GARD,,,,,,,,,,,,Adenocarcinoma of the appendix,TRUE,FALSE,Active +GARD:10565,Legacy,GARD,,,,,,,,,,,,Pseudo Pelger-Huet anomaly,TRUE,FALSE,Active +GARD:10566,Legacy,GARD,,,,,,,,,,,,Reese retinal dysplasia,TRUE,FALSE,Active +GARD:10568,Legacy,GARD,,,,,,,,,,,,Dauwerse-Peters syndrome,TRUE,FALSE,Active +GARD:10569,Legacy,GARD,,,,,,,,,,,,Guttate psoriasis,TRUE,FALSE,Active +GARD:1057,Active,Orphanet,ORPHA:267,Disorder,[Disease],Calpain-3-related limb-girdle muscular dystrophy R1,"[Autosomal recessive limb-girdle muscular dystrophy type 2A, Calpain-3-related LGMD R1, LGMD type 2A, LGMD2A, Limb-girdle muscular dystrophy due to calpain deficiency, Limb-girdle muscular dystrophy type 2A, Primary calpainopathy]","A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.","[253600, 618129]",,,,,Limb-girdle muscular dystrophy type 2A,TRUE,FALSE,Active +GARD:10570,Active,Orphanet+OMIM,OMIM:263650,Subtype of disorder,[Malformation syndrome subtype],Bartsocas-papas syndrome 1,"[pterygium, popliteal, lethal type, multiple pterygium syndrome, aslan type, Popliteal pterygium syndrome, bartsocas-papas type 1, popliteal pterygium syndrome, lethal type]","Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by {12:Mitchell et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Bartsocas-Papas Syndrome\n\nBartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene ({600664}).\n\nA less severe form of popliteal pterygium syndrome (PPS; {119500}) is caused by mutation in the IRF6 gene ({607199}).",[263650],[1234],[Bartsocas-Papas syndrome],[4436],,Multiple pterygium syndrome Aslan type,TRUE,FALSE,Retired +GARD:10571,Legacy,GARD,,,,,,,,,,,,Spondylospinal thoracic dysostosis,TRUE,FALSE,Active +GARD:10572,Active,Orphanet,ORPHA:85278,Disorder,[Malformation syndrome],Christianson syndrome,[X-linked Angelman-like syndrome],"A rare developmental defect during embryogenesis characterized by intellectual deficit, ataxia, postnatal microcephaly, and hyperkinesis.",[300243],,,,,Christianson syndrome,TRUE,FALSE,Active +GARD:10573,Active,Orphanet,ORPHA:488434,Disorder,[Malformation syndrome],"Camptodactyly syndrome, Guadalajara type 3",,"Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.",[611929],,,,,Camptodactyly syndrome Guadalajara type 3,TRUE,FALSE,Active +GARD:10574,Active,Orphanet,ORPHA:178333,Disorder,[Disease],Åland Islands eye disease,"[AIED, Forsius-Eriksson syndrome, Forsius-Eriksson type ocular albinism]","An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.",[300600],,,,,Aland island eye disease,TRUE,FALSE,Active +GARD:10575,Legacy,GARD,,,,,,,,,,,,PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY,TRUE,FALSE,Active +GARD:10576,Legacy,GARD,,,,,,,,,,,,Thrombocytopenia with elevated serum IgA and renal disease,TRUE,FALSE,Active +GARD:10577,Legacy,GARD,,,,,,,,,,,,ALK+ histiocytosis,TRUE,FALSE,Active +GARD:10578,Active,Orphanet,ORPHA:101089,Subtype of disorder,[Clinical subtype],Hyper-IgM syndrome type 2,"[AID deficiency, Activation-induced cytidine deaminase deficiency, HIGM2]",,[605258],,,,,Immunodeficiency with hyper IgM type 2,TRUE,FALSE,Active +GARD:10579,Active,Orphanet,ORPHA:101090,Subtype of disorder,[Clinical subtype],Hyper-IgM syndrome type 3,"[HIGM3, Hyper-IgM syndrome due to CD40 deficiency]",,[606843],,,,,Immunodeficiency with hyper IgM type 3,TRUE,FALSE,Active +GARD:1058,Active,Orphanet,ORPHA:391327,Disorder,[Disease],X-linked calvarial hyperostosis,,"X-linked calvarial hyperostosis is a rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.",[302030],,,,,Calvarial hyperostosis,TRUE,FALSE,Active +GARD:10580,Active,Orphanet,ORPHA:101091,Subtype of disorder,[Clinical subtype],Hyper-IgM syndrome type 4,[HIGM4],,[608184],,,,,Immunodeficiency with hyper IgM type 4,TRUE,FALSE,Active +GARD:10581,Active,Orphanet,ORPHA:101092,Subtype of disorder,[Clinical subtype],Hyper-IgM syndrome type 5,"[HIGM5, Hyper-IgM syndrome due to UNG deficiency, Hyper-IgM syndrome due to uracil N-glycosylase]",,[608106],,,,,Immunodeficiency with hyper IgM type 5,TRUE,FALSE,Active +GARD:10582,Active,Orphanet,ORPHA:217017,Disorder,[Malformation syndrome],Zechi-Ceide syndrome,[Occipital atretic cephalocele-unusual facies-large feet syndrome],"Zechi-Ceide syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.",[612916],,,,,Zechi Ceide syndrome,TRUE,FALSE,Active +GARD:10583,Active,Orphanet,ORPHA:59303,Disorder,[Disease],Neonatal ichthyosis-sclerosing cholangitis syndrome,"[IHSC, Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome, NISCH syndrome]","Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.",[607626],,,,,"Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis",TRUE,FALSE,Active +GARD:10584,Active,Orphanet,ORPHA:85170,Disorder,[Malformation syndrome],"Mesomelic dysplasia, Savarirayan type","[Mesomelic dysplasia with absent fibulas and triangular tibias, Triangular tibia-fibular aplasia syndrome]","Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.",[605274],,,,,Mesomelic dysplasia Savarirayan type,TRUE,FALSE,Active +GARD:10585,Active,Orphanet,ORPHA:86829,Disorder,[Disease],Chronic neutrophilic leukemia,,"A rare myeloproliferative neoplasm characterized by sustained peripheral blood neutrophilia, bone marrow hypercellularity due to neutrophilic granulocyte proliferation, and hepatosplenomegaly. Other organs may be infiltrated in addition. Microscopically, the bone marrow shows an increase in proportion of myelocytes and mature neutrophils, but no significant dysplasia in any of the cell lineages. Peripheral blood neutrophils are mostly segmented, although band forms may also be substantially increased. Cytogenetic abnormalities are absent in most cases. The disease is slowly progressive with progredient neutrophilia followed by anemia and thrombocytopenia. Transformation to acute myeloid leukemia may occur.",,,,,,Chronic neutrophilic leukemia,TRUE,FALSE,Active +GARD:10586,Active,Orphanet+OMIM,OMIM:610168,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]",Loeys-dietz syndrome 2,"[Aortic aneurysm, familial thoracic 3, marfan syndrome, type ii, formerly]",,[610168],"[91387, 60030]","[Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection]","[10788, 2249]",,Loeys-Dietz syndrome type 2,TRUE,FALSE,Active +GARD:10587,Active,Orphanet,ORPHA:99027,Disorder,[Disease],Adult-onset autosomal dominant leukodystrophy,"[ADLD, Adult-onset autosomal dominant demyelinating leukodystrophy]","A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.",[169500],,,,,Autosomal dominant leukodystrophy with autonomic disease,TRUE,FALSE,Active +GARD:10588,Active,Orphanet+OMIM,OMIM:614816,Subtype of disorder,[Disease subtype],Loeys-dietz syndrome 4,"[Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations]",,[614816],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,Loeys-Dietz syndrome type 4,TRUE,FALSE,Active +GARD:10589,Legacy,GARD,,,,,,,,,,,,Loeys-Dietz syndrome type 2B,TRUE,FALSE,Retired +GARD:10590,Active,Orphanet,ORPHA:157801,Disorder,[Morphological anomaly],Mesoaxial synostotic syndactyly with phalangeal reduction,"[MSSD, Syndactyly type 9, Syndactyly, Malik-Percin type]","A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.",[609432],,,,,Syndactyly type 9,TRUE,FALSE,Active +GARD:10591,Active,Orphanet,ORPHA:250994,Disorder,[Malformation syndrome],1q21.1 microduplication syndrome,"[Dup(1)(q21.1), Trisomy 1q21.1]","1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.",[612475],,,,,Chromosome 1q21.1 duplication syndrome,TRUE,FALSE,Active +GARD:10592,Active,Orphanet,ORPHA:217346,Disorder,[Malformation syndrome],19q13.11 microdeletion syndrome,"[Del(19)(q13.11), Monosomy 19q13.11]","The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.",[613026],,,,,Chromosome 19q13.11 deletion syndrome,TRUE,FALSE,Active +GARD:10593,Active,Orphanet,ORPHA:217371,Disorder,[Disease],Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,[Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins],"A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.",[613070],,,,,Transient infantile liver failure,TRUE,FALSE,Active +GARD:10594,Active,Orphanet,ORPHA:217382,Disorder,[Disease],Neurodegenerative syndrome due to cerebral folate transport deficiency,,,[613068],,,,,Cerebral folate deficiency,TRUE,FALSE,Active +GARD:10595,Active,Orphanet,ORPHA:217266,Disorder,[Malformation syndrome],BNAR syndrome,[Bifid nose with or without anorectal and renal anomalies],"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).",[608980],,,,,Bifid nose with or without anorectal and renal anomalies,TRUE,FALSE,Active +GARD:10596,Legacy,GARD,,,,,,,,,,,,"Androgen insensitivity syndrome, mild",TRUE,FALSE,Active +GARD:10597,Active,Orphanet,ORPHA:99429,Disorder,[Disease],Complete androgen insensitivity syndrome,"[CAIS, Complete androgen resistance syndrome]","Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.",[300068],,,,,Complete androgen insensitivity syndrome,TRUE,FALSE,Active +GARD:10598,Legacy,GARD,,,,,,,,,,,,Carotid body tumor,TRUE,FALSE,Active +GARD:10599,Legacy,GARD,,,,,,,,,,,,Glomus jugulare tumors,TRUE,FALSE,Active +GARD:106,Active,Orphanet,ORPHA:1647,Disorder,[Malformation syndrome],Oculocerebrocutaneous syndrome,"[Delleman syndrome, Delleman-Oorthuys syndrome, Leichtman-Wood-Rohn syndrome, OCCS, Orbital cyst with cerebral and focal dermal malformations]","A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.",[164180],,,,,Oculocerebrocutaneous syndrome,TRUE,FALSE,Active +GARD:1060,Legacy,GARD,,,,,,,,,,,,Cataract-microcephaly-failure to thrive-kyphoscoliosis,TRUE,FALSE,Retired +GARD:10601,Draft,GARD,,Subtype of disorder,[Disease],"Pituitary hormone deficiency, combined 1",,"Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL; 176760), and thyroid-stimulating hormone (TSH; see 188540), while the production of adrenocorticotrophic hormone (ACTH; see 176830), luteinizing hormone (LH; 152780), and follicle-stimulating hormone (FSH; 136530) are preserved (Wu et al., 1998). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992).Genetic Heterogeneity of Combined Pituitary Hormone DeficiencyCPHD2 (262600), associated with hypogonadism, is caused by mutation in the PROP1 gene (601538). CPHD3 (221750), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene (600577). CPHD4 (262700) is caused by mutation in the LHX4 gene (602146). CPHD5 (see septooptic dysplasia, 182230) is caused by mutation in the HESX1 gene (601802). CPHD6 (613986) is caused by mutation in the OTX2 gene (600037).",[613038],[95494],"[Combined pituitary hormone deficiencies, genetic forms]",[10602],,"Pituitary hormone deficiency, combined 1",TRUE,FALSE,Active +GARD:10602,Active,Orphanet,ORPHA:95494,Disorder,[Disease],"Combined pituitary hormone deficiencies, genetic forms","[Familial congenital hypopituitarism, Multiple pituitary hormone deficiencies, genetic forms]","Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.","[182230, 613986, 262600]",,,,,"Combined pituitary hormone deficiencies, genetic forms",TRUE,FALSE,Active +GARD:10603,Active,Orphanet,ORPHA:231720,Disorder,[Malformation syndrome],Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,[Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome],"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.",[221750],,,,,"Pituitary hormone deficiency, combined 3",TRUE,FALSE,Active +GARD:10604,Active,Orphanet,ORPHA:85442,Disorder,[Disease],Short stature-pituitary and cerebellar defects-small sella turcica syndrome,,"Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).",[262700],,,,,"Pituitary hormone deficiency, combined 4",TRUE,FALSE,Active +GARD:10605,Active,Orphanet,ORPHA:63446,Disorder,[Malformation syndrome],Acrocapitofemoral dysplasia,,"A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.",[607778],,,,,Acrocapitofemoral dysplasia,TRUE,FALSE,Active +GARD:10606,Legacy,GARD,,,,,,,,,,,,"Dwarfism, proportionate with hip dislocation",TRUE,FALSE,Active +GARD:10607,Legacy,GARD,,,,,,,,,,,,Pituitary dwarfism with large sella turcica,TRUE,FALSE,Active +GARD:10608,Active,Orphanet,ORPHA:56305,Disorder,[Malformation syndrome],Atelosteogenesis type III,"[AO3, AOIII, Atelosteogenesis type 3]",A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.,[108721],,,,,Atelosteogenesis type 3,TRUE,FALSE,Active +GARD:10609,Active,Orphanet,ORPHA:73273,Disorder,[Disease],Growth delay due to insulin-like growth factor I resistance,[Resistance to IGF-1],"Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).",[270450],,,,,Insulin-like growth factor 1 resistance to,TRUE,FALSE,Active +GARD:1061,Active,Orphanet,ORPHA:1318,Disorder,[Malformation syndrome],"Campomelia, Cumming type",,"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.",[211890],,,,,Campomelia Cumming type,TRUE,FALSE,Active +GARD:10610,Legacy,GARD,,,,,,,,,,,,Dwarfism familial with muscle spasms,TRUE,FALSE,Active +GARD:10611,Active,Orphanet,ORPHA:156728,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, matrilin-3 type","[SEMD, MATN3-related, SEMD, matrilin-3 type]","A rare primary bone dysplasia due to matrilin-3 varaints and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.",[608728],,,,,Spondyloepimetaphyseal dysplasia Matrilin-3 related,TRUE,FALSE,Active +GARD:10612,Active,Orphanet,ORPHA:1803,Disorder,[Disease],Thoracomelic dysplasia,"[Rivera-Perez-Salas syndrome, Thoracolimb dysplasia, Rivera type]","Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.",[273740],,,,,Thoracomelic dysplasia,TRUE,FALSE,Retired +GARD:10613,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia calcificans metaphysealis,TRUE,FALSE,Active +GARD:10614,Active,Orphanet,ORPHA:139399,Subtype of disorder,[Clinical subtype],Adrenomyeloneuropathy,,"A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood.",[300100],,,,,Adrenomyeloneuropathy,TRUE,FALSE,Active +GARD:10615,Active,Orphanet+OMIM,OMIM:610655,Subtype of disorder,[Disease subtype],"Telangiectasia, hereditary hemorrhagic, type 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of hereditary hemorrhagic telangiectasia (HHT), see HHT1 ({187300}).",[610655],[774],[Hereditary hemorrhagic telangiectasia],[6626],,Hereditary hemorrhagic telangiectasia type 4,TRUE,FALSE,Active +GARD:10616,Active,Orphanet,ORPHA:93358,Disorder,[Disease],Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,,"Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.",[271665],,,,,Spondylometaepiphyseal dysplasia short limb-hand type,TRUE,FALSE,Active +GARD:10617,Active,Orphanet,ORPHA:519384,Disorder,[Morphological anomaly],Congenital cystic eye,[Congenital anophthalmos with cyst],"A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is composed of connective tissue lined by neuroglial material. The defect is usually unilateral and may be an isolated finding or occur in association with intra- or extraocular malformations.",,,,,,Congenital cystic eye,TRUE,FALSE,Active +GARD:10618,Active,Orphanet,ORPHA:93356,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Missouri type","[SEMD type 2, SEMD, Missouri type, Spondyloepimetaphyseal dysplasia type 2]","Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.",[602111],,,,,Spondyloepimetaphyseal dysplasia Missouri type,TRUE,FALSE,Active +GARD:10619,Active,Orphanet+OMIM,OMIM:259440,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type ix","[Oi, type ix]","Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by {6:van Dijk et al., 2009}).",[259440],"[216820, 216804, 216812]","[Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[10142, 8695, 8696]",,Osteogenesis imperfecta type IX,TRUE,FALSE,Active +GARD:1062,Active,Orphanet,ORPHA:1319,Disorder,[Malformation syndrome],Camptobrachydactyly,,"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.",[114150],,,,,Camptobrachydactyly,TRUE,FALSE,Active +GARD:10620,Active,Orphanet,ORPHA:178355,Disorder,[Disease],Smith-McCort dysplasia,,"Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.","[607326, 615222]",,,,,Smith McCort dysplasia,TRUE,FALSE,Active +GARD:10621,Legacy,GARD,,,,,,,,,,,,Genochondromatosis,TRUE,FALSE,Active +GARD:10622,Legacy,GARD,,,,,,,,,,,,Metaphyseal dysplasia without hypotrichosis,TRUE,FALSE,Active +GARD:10623,Active,Orphanet+OMIM,OMIM:216330,Subtype of disorder,[Malformation syndrome subtype],"Cleidocranial dysplasia, recessive form",,{1:Goodman et al. (1975)} described 2 families in which offspring of unaffected consanguineous parents had a particularly severe form of cleidocranial dysplasia. Spinal anomalies were present and the affected persons were dwarfed.,[216330],[1452],[Cleidocranial dysplasia],[6118],,Cleidocranial dysplasia recessive form,TRUE,FALSE,Active +GARD:10624,Active,Orphanet,ORPHA:93284,Disorder,[Disease],Spondyloepiphyseal dysplasia tarda,,"Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.","[184100, 271600, 313400]",,,,,Autosomal dominant spondyloepiphyseal dysplasia tarda,TRUE,FALSE,Active +GARD:10625,Active,Orphanet+OMIM,OMIM:613789,Subtype of disorder,[Disease subtype],"Complement component 8 deficiency, type ii","[c8 beta deficiency, C8 deficiency, type ii, complement component 8b deficiency, c8b deficiency]","Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years ({6:Ross and Densen, 1984}).\n\nTwo types of inherited C8 deficiency have been reported in humans: type I ({613790}), in which only C8 alpha (C8A, {120950}) and C8 gamma (C8G; {120930}) are deficient, and type II, in which only C8 beta is deficient ({2:Marcus et al., 1982}; {9:Tedesco et al., 1983}). The 2 types are clinically indistinguishable ({6:Ross and Densen, 1984}).",[613789],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,Complement component 8 deficiency type 2,TRUE,FALSE,Active +GARD:10626,Active,Orphanet+OMIM,OMIM:613790,Subtype of disorder,[Disease subtype],"Complement component 8 deficiency, type i","[C8 deficiency, type i, c8ag deficiency, c8 alpha-gamma deficiency]","Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years ({8:Ross and Densen, 1984}).\n\nTwo kinds of inherited C8 deficiency have been reported in humans: type I, in which only C8 alpha and C8 gamma are deficient, and type II ({613789}), in which only C8 beta (C8B; {120960}) is deficient ({4:Marcus et al., 1982}; {9:Tedesco et al., 1983}). The 2 types are clinically indistinguishable ({8:Ross and Densen, 1984}).",[613790],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,Complement component 8 deficiency type 1,TRUE,FALSE,Active +GARD:10627,Active,Orphanet,ORPHA:73272,Disorder,[Disease],Growth delay due to insulin-like growth factor type 1 deficiency,"[Growth delay-deafness-intellectual disability syndrome, Growth delay-hearing loss-intellectual disability syndrome, IGF-1 deficiency, Primary insulin-like growth factor deficiency]",Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.,[608747],,,,,Insulin-like growth factor I deficiency,TRUE,FALSE,Active +GARD:10628,Legacy,GARD,,,,,,,,,,,,XFE progeroid syndrome,TRUE,FALSE,Active +GARD:10629,Active,Orphanet,ORPHA:163654,Disorder,[Disease],Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome,"[SED-BDS, Tattoo dysplasia]","Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).",[611717],,,,,Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech,TRUE,FALSE,Active +GARD:1063,Active,Orphanet,ORPHA:1320,Disorder,[Morphological anomaly],Idiopathic camptocormia,"[Idiopathic camptocormism, Idiopathic progressive lumbar kyphosis]","Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.",,,,,,Camptocormism,TRUE,FALSE,Active +GARD:10630,Active,Orphanet,ORPHA:92050,Disorder,[Disease],Congenital tufting enteropathy,"[IED, Intestinal epithelial dysplasia, Non-syndromic congenital tufting enteropathy]",Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.,[613217],,,,,Tufting enteropathy,TRUE,FALSE,Active +GARD:10631,Active,Orphanet,ORPHA:251607,Disorder,[Disease],Pleomorphic xanthoastrocytoma,[PXA],"A rare low-grade astrocytoma characterized by superficial location in the cerebral hemispheres with involvement of the meninges, composed of GFAP-expressing cells showing nuclear and cytoplasmic pleomorphism and xanthomatous change, surrounded by a reticulin network. The tumor corresponds to WHO grade II and typically affects children and young adults, who often present with a long history of seizures. Extent of resection and mitotic index are important prognostic factors.",,,,,,Pleomorphic xanthoastrocytoma,TRUE,FALSE,Active +GARD:10632,Active,Orphanet,ORPHA:251618,Disorder,[Disease],Subependymal giant cell astrocytoma,[SEGA],"A rare low-grade astrocytoma characterized by a benign, slowly growing lesion typically arising in the wall of the lateral ventricles, composed of large ganglioid astrocytes. The tumor corresponds to WHO grade I and typically occurs during the first two decades of life in patients with tuberous sclerosis complex. Most patients present with worsening of epilepsy or symptoms of increased intracranial pressure.",,,,,,Subependymal giant cell astrocytoma,TRUE,FALSE,Active +GARD:10633,Active,Orphanet,ORPHA:251643,Disorder,[Disease],Myxopapillary ependymoma,,"Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.",,,,,,Myxopapillary ependymoma,TRUE,FALSE,Active +GARD:10634,Active,Orphanet,ORPHA:251646,Disorder,[Disease],Anaplastic ependymoma,,"A rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.",,,,,,Anaplastic ependymoma,TRUE,FALSE,Active +GARD:10635,Active,Orphanet,ORPHA:251679,Disorder,[Disease],Astroblastoma,,"A very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.",,,,,,Astroblastoma,TRUE,FALSE,Active +GARD:10636,Legacy,GARD,,,,,,,,,,,,Chordoid glioma of the third ventricle,TRUE,FALSE,Active +GARD:10637,Active,Orphanet,ORPHA:251663,Disorder,[Disease],Anaplastic oligoastrocytoma,[aMOA],"A rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor prognosis.",,,,,,Anaplastic oligoastrocytoma,TRUE,FALSE,Active +GARD:10638,Active,Orphanet,ORPHA:251937,Disorder,[Disease],Gangliocytoma,,"Gangliocytoma is a rare, mixed neuronal-glial tumor characterized by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported.",,,,,,Gangliocytoma,TRUE,FALSE,Active +GARD:10639,Active,Orphanet,ORPHA:251957,Disorder,[Disease],Anaplastic ganglioglioma,,"A rare mixed neuronal-glial tumor characterized by a mostly supratentorial space-occupying lesion often involving the temporal lobe, although it may occur anywhere in the central nervous system. The tumor shows anaplastic features in its glial component and is considered WHO grade III, which may, albeit inconsistently, indicate more aggressive behavior and less favorable prognosis. Clinical symptoms vary according to the location, the most common manifestation being seizures.",,,,,,Anaplastic ganglioglioma,TRUE,FALSE,Active +GARD:1064,Active,Orphanet,ORPHA:1321,Disorder,[Malformation syndrome],Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome,[Goodman camptodactyly],"An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.",[211930],,,,,"Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia",TRUE,FALSE,Active +GARD:10640,Active,Orphanet,ORPHA:251946,Disorder,[Disease],Dysembryoplastic neuroepithelial tumor,[DNET],"A rare mixed neuronal-glial tumor characterized by a benign, usually supratentorial lesion with predominantly cortical location and multinodular architecture. The tumor typically becomes symptomatic in the second or third decade of life with drug-resistant partial seizures. Histological hallmark is the specific glioneuronal element, columns oriented perpendicularly to the cortical surface, formed by bundles of axons attached to oligodendroglia-like cells, while neurons appear to float in an abundant eosinophilic matrix.",,,,,,Dysembryoplastic neuroepithelial tumor,TRUE,FALSE,Active +GARD:10641,Active,Orphanet,ORPHA:73256,Disorder,[Disease],Central neurocytoma,,"Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.",,,,,,Central neurocytoma,TRUE,FALSE,Active +GARD:10642,Active,Orphanet,ORPHA:251931,Disorder,[Disease],Cerebellar liponeurocytoma,,"Cerebellar liponeurocytoma (cLPN) is a rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence.",,,,,,Cerebellar liponeurocytoma,TRUE,FALSE,Active +GARD:10643,Active,Orphanet,ORPHA:97286,Disorder,[Disease],Carney-Stratakis syndrome,"[Carney dyad, Carney-Stratakis dyad, GIST-paraganglioma dyad, Paraganglioma and gastric stromal sarcoma]","Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.",[606864],,,,,Paraganglioma and gastric stromal sarcoma,TRUE,FALSE,Active +GARD:10644,Active,Orphanet,ORPHA:251919,Disorder,[Disease],Pineal parenchymal tumor of intermediate differenciation,,"A rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID (pineal parenchymal tumor of intermediate differentiation) or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.",,,,,,Pineal parenchymal tumors of intermediate differentiation,TRUE,FALSE,Active +GARD:10645,Active,Orphanet,ORPHA:93623,Subtype of disorder,[Clinical subtype],Dent disease type 2,,"A rare genetic renal tubular disease, characterized by manifestations of proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is frequent, but may be mild and not recognized.",[300555],,,,,Dent disease 2,TRUE,FALSE,Retired +GARD:10646,Legacy,GARD,,,,,,,,,,,,Teratoma with malignant transformation,TRUE,FALSE,Active +GARD:10647,Active,Orphanet,ORPHA:85167,Disorder,[Disease],Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,[SMD-CRD],"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.",[608940],,,,,Spondylometaphyseal dysplasia with cone-rod dystrophy,TRUE,FALSE,Active +GARD:10648,Active,Orphanet+OMIM,OMIM:610024,Subtype of disorder,[Disease subtype],Retinal cone dystrophy 3a,"[Cone dystrophy with night blindness and supernormal rod responses, pde6h-related]",,[610024],[49382],[Achromatopsia],[15015],,Retinal cone dystrophy 3A,TRUE,FALSE,Active +GARD:10649,Active,Orphanet,ORPHA:209932,Disorder,[Disease],Cone dystrophy with supernormal rod response,"[Cone dystrophy with supernormal rod ERG, Cone dystrophy with supernormal rod electroretinogram, Cone dystrophy with supernormal scotopic electroretinogram]","Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.",[610356],,,,,Retinal cone dystrophy 3B,TRUE,FALSE,Active +GARD:1065,Legacy,GARD,,,,,,,,,,,,Camptodactyly joint contractures and facial skeletal dysplasia,TRUE,FALSE,Retired +GARD:10650,Active,Orphanet+OMIM,OMIM:610478,Subtype of disorder,[Disease subtype],Retinal cone dystrophy 4,,,[610478],[1872],[Cone rod dystrophy],[10790],,Retinal cone dystrophy 4,TRUE,FALSE,Active +GARD:10651,Active,Orphanet+OMIM,OMIM:600624,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 1,,"For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see {120970}.",[600624],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 1,TRUE,FALSE,Active +GARD:10652,Active,Orphanet+OMIM,OMIM:304020,Subtype of disorder,[Disease subtype],"Cone-rod dystrophy, x-linked, 1",,"X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors ({5:Demirci et al., 2002}). Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings ({10:Hong et al., 1994}).\n\n<Subhead> Genetic Heterogeneity of X-linked Cone-Rod Dystrophy\n\nAdditional forms of X-linked cone-rod dystrophy include CORDX2 ({300085}), mapped to chromosome Xq27, and CORDX3 ({300476}), caused by mutation in the CACNA1F gene ({300110}) on chromosome Xp11.23.\n\nFor a discussion of autosomal forms of cone-rod dystrophy, see CORD2 ({120970}).",[304020],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy X-linked 1,TRUE,FALSE,Active +GARD:10653,Active,Orphanet+OMIM,OMIM:604116,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 3,,"Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by {6:Klevering et al., 2002} and {3:Ducroq et al., 2002}). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced ({5:Fishman et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see {120970}.",[604116],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 3,TRUE,FALSE,Active +GARD:10654,Active,Orphanet+OMIM,OMIM:300476,Subtype of disorder,[Disease subtype],"Cone-rod dystrophy, x-linked, 3",,"Cone-rod dystrophy is a retinal disorder with predominantly cone involvement. Rod impairment may occur at the same time as the cone impairment or appear later. Patients with CORD usually have reduced visual acuity, photophobia, and color vision defects (summary by {3:Huang et al., 2013}).\n\nFor a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see {304020}.",[300476],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy X-linked 3,TRUE,FALSE,Active +GARD:10655,Active,Orphanet+OMIM,OMIM:600977,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 5,,"Cone-rod dystrophy-5 (CORD5) is characterized by reduced visual acuity, photophobia, and defective color vision. Most patients experience onset of symptoms in early childhood, with progression to legal blindness by early adulthood, although some patients exhibit a milder phenotype, with onset in the fourth or fifth decade of life ({3:Kohn et al., 2007}; {4:Reinis et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see {120970}.",[600977],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 5,TRUE,FALSE,Active +GARD:10656,Active,Orphanet+OMIM,OMIM:601777,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 6,[Retinal cone dystrophy 2],,[601777],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 6,TRUE,FALSE,Active +GARD:10657,Active,Orphanet+OMIM,OMIM:125851,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 2","[mody, glucokinase-related, Mody, type 2]","MODY is a form of NIDDM ({125853}) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see {606391}.\n\nIn a review of the various forms of MODY, {2:Fajans et al. (2001)} stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene. Heterozygous mutations in glucokinase are associated with a mild form of nonprogressive hyperglycemia that is usually asymptomatic at diagnosis and is treated with diet alone. The mild fasting hyperglycemia with blood glucose concentrations of 110 to 145 mg/deciliter and impaired glucose tolerance in most affected carriers may be recognized by biochemical testing at a young age, possibly as early as birth. About 50% of the women who are carriers may have gestational diabetes. Less than 50% of the carriers have overt diabetes; many of those who do are obese or elderly. Two percent of MODY2 patients require insulin therapy. Diabetes-associated complications are rare in this form of MODY. MODY was found in 13% of the Caucasian NIDDM families collected in France by {4:Froguel et al. (1991)}. {5:Gidh-Jain et al. (1993)} found that GCK mutations accounted for 56% of MODY families in France.",[125851],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 2",TRUE,FALSE,Active +GARD:10658,Active,Orphanet+OMIM,OMIM:600496,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 3","[Mody, type 3]","MODY is a form of familial noninsulin-dependent diabetes mellitus (T2D; {125853}) and is characterized by an early age of onset (childhood, adolescence, or young adulthood under 25 years) and autosomal dominant inheritance.\n\nFor a phenotypic description and discussion of genetic heterogeneity of MODY, see {606391}.",[600496],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 3",TRUE,FALSE,Active +GARD:10659,Active,Orphanet+OMIM,OMIM:606392,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 4","[Mody, type 4]",,[606392],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 4",TRUE,FALSE,Active +GARD:10660,Active,Orphanet+OMIM,OMIM:606394,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 6","[Mody, type 6]",,[606394],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 6",TRUE,FALSE,Active +GARD:10661,Active,Orphanet+OMIM,OMIM:610508,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 7",,,[610508],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 7",TRUE,FALSE,Active +GARD:10662,Active,Orphanet+OMIM,OMIM:609812,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 8, with exocrine dysfunction","[Diabetes and pancreatic exocrine dysfunction, diabetes-pancreatic exocrine dysfunction syndrome]","Maturity-onset diabetes of the young type 8 (MODY8) is characterized by onset of diabetes before age 25 years, with slowly progressive pancreatic exocrine dysfunction, fatty replacement of pancreatic parenchyma (lipomatosis), and development of pancreatic cysts. Patients do not present clinical signs of chronic pancreatitis (summary by {3:Johansson et al., 2018}).\n\nFor a phenotypic description and discussion of genetic heterogeneity of MODY, see {606391}.",[609812],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 8",TRUE,FALSE,Active +GARD:10663,Active,Orphanet+OMIM,OMIM:612225,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 9",,,[612225],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 9",TRUE,FALSE,Active +GARD:10664,Active,Orphanet,ORPHA:443084,Disorder,[Clinical syndrome],Baroreflex failure,,"A rare autonomic nervous system disorder characterized by diminished or absent buffering capability to prevent blood pressure from rising or falling excessively, due to abnormalities in the vascular baroreceptors, the glossopharyngeal or vagal nerves, or the brain stem. Typical clinical presentations are acute severe sustained hypertension, tachycardia, and headache, or volatile hypertension and tachycardia with headache, diaphoresis, flushing, and emotional instability. Rare cases rather present with hypotension, bradycardia, and dizziness or syncope.",,,,,,Baroreflex failure,TRUE,FALSE,Active +GARD:10665,Legacy,GARD,,,,,,,,,,,,Familial bilateral striatal necrosis,TRUE,FALSE,Active +GARD:10666,Legacy,GARD,,,,,,,,,,,,Dihydroxyadeninuria,TRUE,FALSE,Active +GARD:10667,Active,Orphanet,ORPHA:329466,Disorder,[Disease],"Autosomal dominant focal dystonia, DYT25 type","[DYT25, Dystonia 25]","A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia.",[615073],,,,,DYT-GNAL,TRUE,FALSE,Active +GARD:10668,Legacy,GARD,,,,,,,,,,,,Cervical dystonia,TRUE,FALSE,Active +GARD:10669,Legacy,GARD,,,,,,,,,,,,Double inferior vena cava,FALSE,FALSE,Active +GARD:1067,Active,Orphanet,ORPHA:1327,Disorder,[Malformation syndrome],"Camptodactyly syndrome, Guadalajara type 1",,"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.",[211910],,,,,Camptodactyly syndrome Guadalajara type 1,TRUE,FALSE,Active +GARD:10670,Active,Orphanet,ORPHA:309279,Group of disorders,[Category],Glycoproteinosis,,,,,,,,Glycoproteinosis,TRUE,FALSE,Active +GARD:10671,Legacy,GARD,,,,,,,,,,,,Mucoepidermoid carcinoma,TRUE,FALSE,Active +GARD:10672,Legacy,GARD,,,,,,,,,,,,ALS-like syndrome of encephalomyopathy,TRUE,FALSE,Retired +GARD:10673,Legacy,GARD,,,,,,,,,,,,Cardioencephalomyopathy,TRUE,FALSE,Active +GARD:10674,Legacy,GARD,,,,,,,,,,,,Metachromatic leukodystrophy due to saposin B deficiency,TRUE,FALSE,Active +GARD:10675,Active,Orphanet,ORPHA:85212,Subtype of disorder,[Clinical subtype],Fetal Gaucher disease,[Perinatal lethal Gaucher disease],Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).,[608013],,,,,Gaucher disease perinatal lethal,TRUE,FALSE,Active +GARD:10676,Legacy,GARD,,,,,,,,,,,,Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema,TRUE,FALSE,Retired +GARD:10679,Active,Orphanet,ORPHA:88950,Subtype of disorder,[Clinical subtype],UMOD-related autosomal dominant tubulointerstitial kidney disease,"[ADTKD-UMOD, Familial juvenile hyperuricemic nephropathy type 1, MCKD2, Medullary cystic kidney disease type 2, UMOD-related ADTKD, Uromodulin-associated kidney disease]",,[162000],,,,,Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations,TRUE,FALSE,Active +GARD:1068,Active,Orphanet,ORPHA:1326,Disorder,[Malformation syndrome],"Camptodactyly syndrome, Guadalajara type 2",,"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.",[211920],,,,,Camptodactyly syndrome Guadalajara type 2,TRUE,FALSE,Active +GARD:10680,Active,Orphanet,ORPHA:94089,Disorder,[Disease],Pseudohypoparathyroidism type 1B,,"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.",[603233],,,,,Pseudohypoparathyroidism type 1B,TRUE,FALSE,Active +GARD:10681,Active,Orphanet,ORPHA:79444,Disorder,[Disease],Pseudohypoparathyroidism type 1C,,"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).",[612462],,,,,Pseudohypoparathyroidism type 1C,TRUE,FALSE,Active +GARD:10682,Active,Orphanet,ORPHA:94090,Disorder,[Disease],Pseudohypoparathyroidism type 2,,"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.",[203330],,,,,Pseudohypoparathyroidism type 2,TRUE,FALSE,Active +GARD:10683,Legacy,GARD,,,,,,,,,,,,Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features,TRUE,FALSE,Retired +GARD:10684,Active,Orphanet,ORPHA:35689,Disorder,[Disease],Primary lateral sclerosis,"[Adult-onset PLS, Adult-onset primary lateral sclerosis, PLS]","Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.",[611637],,,,,Primary lateral sclerosis,TRUE,FALSE,Active +GARD:10685,Legacy,GARD,,,,,,,,,,,,Chilaiditi syndrome,TRUE,FALSE,Active +GARD:10686,Active,Orphanet,ORPHA:157846,Disorder,[Disease],Neuroferritinopathy,"[Adult basal ganglia disease, Ferritin-related neurodegeneration, Hereditary ferritinopathy]",Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.,[606159],,,,,Neuroferritinopathy,TRUE,FALSE,Active +GARD:10687,Legacy,GARD,,,,,,,,,,,,Mungan syndrome,TRUE,FALSE,Active +GARD:10688,Active,Orphanet+OMIM,OMIM:610217,Subtype of disorder,[Disease subtype],Neurodegeneration with brain iron accumulation 2b,"[neuroaxonal dystrophy, atypical, Neurodegeneration with brain iron accumulation, pla2g6-related]",,[610217],[35069],[Infantile neuroaxonal dystrophy],[3957],,Karak syndrome,TRUE,FALSE,Active +GARD:10689,Legacy,GARD,,,,,,,,,,,,Megarbane Jalkh syndrome,TRUE,FALSE,Active +GARD:1069,Active,Orphanet,ORPHA:1325,Disorder,[Malformation syndrome],Camptodactyly-taurinuria syndrome,[Familial streblodactyly with amino-aciduria],"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.",,,,,,Camptodactyly taurinuria,TRUE,FALSE,Active +GARD:10690,Legacy,GARD,,,,,,,,,,,,Macular telangiectasia type 2,FALSE,FALSE,Active +GARD:10691,Active,Orphanet+OMIM,OMIM:617041,Subtype of disorder,[Malformation syndrome subtype],Duane retraction syndrome 3 with or without deafness,,"Duane retraction syndrome is the most common congenital disorder of cranial dysinnervation, with a prevalence of 1 in 1,000 individuals. Affected individuals have limited unilateral or bilateral horizontal eye movement, accompanied by globe retraction and palpebral fissure narrowing on attempted adduction (movement of the eye inward, toward the nose). DURS can be classified into 3 types: type 1, the most common, involves limited abduction (movement of the eye outward toward the ear); type 2, the least common, involves limited adduction; and type 3 involves limitation of both abduction and adduction. MRI and postmortem examination of patients with DURS have shown absence or hypoplasia of the abducens nerve, which normally innervates the lateral rectus (LR) extraocular muscle to abduct the eye, as well as aberrant LR muscle innervation by axons of the oculomotor nerve, which normally innervates the medial, inferior, and superior rectus and inferior oblique extraocular muscles (summary by {1:Park et al., 2016}).\n\nFor a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 ({126800}).",[617041],[233],[Duane retraction syndrome],[6288],,Duane syndrome type 3,TRUE,FALSE,Retired +GARD:10692,Active,Orphanet,ORPHA:140997,Group of disorders,[Clinical group],Orofaciodigital syndrome,"[OFD, Oral-facial-digital syndrome]",,,,,,,Orofaciodigital syndromes,TRUE,FALSE,Active +GARD:10693,Active,Orphanet,ORPHA:141327,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 12,"[Moran-Barroso syndrome, OFD12, Oral-facial-digital syndrome type 12]","Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.",,,,,,Orofaciodigital syndrome 12,TRUE,FALSE,Active +GARD:10694,Active,Orphanet,ORPHA:141330,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 13,"[Degner syndrome, OFD13, Oral-facial-digital syndrome type 13]","Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.",,,,,,Orofaciodigital syndrome 13,TRUE,FALSE,Active +GARD:10695,Active,Orphanet,ORPHA:99106,Subtype of disorder,[Clinical subtype],"Atrial septal defect, ostium primum type","[ASD, ostium primum type]",,,,,,,Atrial septal defect ostium primum,TRUE,FALSE,Active +GARD:10696,Active,Orphanet,ORPHA:99105,Subtype of disorder,[Clinical subtype],"Atrial septal defect, sinus venosus type","[ASD, sinus venosus type]",,,,,,,Atrial septal defect sinus venosus,TRUE,FALSE,Active +GARD:10697,Active,Orphanet,ORPHA:99104,Subtype of disorder,[Clinical subtype],"Atrial septal defect, coronary sinus type","[ASD, coronary sinus type, Unroofed coronary sinus]",,,,,,,Atrial septal defect coronary sinus,TRUE,FALSE,Active +GARD:10698,Active,Orphanet+OMIM,OMIM:605275,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 2,"[Noonan syndrome, autosomal recessive]","Noonan syndrome (NS) is a multiple congenital anomalies syndrome characterized by a typical face, congenital heart disease, and short stature (summary by {5:van der Burgt and Brunner, 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[605275],[648],[Noonan syndrome],[10955],,Noonan syndrome 2,TRUE,FALSE,Active +GARD:10699,Active,Orphanet+OMIM,OMIM:610733,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 4,,"Noonan syndrome-4 (NS4) is an autosomal dominant disorder characterized by a variable phenotype comprising short stature, congenital heart defects, and facial dysmorphisms (summary by {1:Ferrero et al., 2008}). Patients often have ectodermal anomalies, such as keratitis pilaris, curly hair, and ocular ptosis ({5:Tartaglia et al., 2007}; {8:Zenker et al., 2007}).",[610733],[648],[Noonan syndrome],[10955],,Noonan syndrome 4,TRUE,FALSE,Active +GARD:107,Legacy,GARD,,,,,,,,,,,,"Pneumonia, eosinophilic",TRUE,FALSE,Retired +GARD:1070,Legacy,GARD,,,,,,,,,,,,Camptodactyly vertebral fusion,TRUE,FALSE,Active +GARD:10700,Active,Orphanet+OMIM,OMIM:611553,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 5,,,[611553],[648],[Noonan syndrome],[10955],,Noonan syndrome 5,TRUE,FALSE,Active +GARD:10701,Active,Orphanet+OMIM,OMIM:613224,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 6,,,[613224],[648],[Noonan syndrome],[10955],,Noonan syndrome 6,TRUE,FALSE,Active +GARD:10702,Legacy,GARD,,,,,,,,,,,,Gestational diabetes insipidus,TRUE,FALSE,Active +GARD:10703,Legacy,GARD,,,,,,,,,,,,Dipsogenic diabetes insipidus,TRUE,FALSE,Active +GARD:10704,Active,Orphanet,ORPHA:2254,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 1,"[Norman disease, PCH1]","A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing","[614678, 618065, 619303, 619304, 616081, 607596]",,,,,Pontocerebellar hypoplasia type 1,TRUE,FALSE,Active +GARD:10705,Active,Orphanet,ORPHA:2524,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 2,[PCH2],"A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking.","[617026, 613811, 612389, 612390, 277470]",,,,,Pontocerebellar hypoplasia type 2,TRUE,FALSE,Active +GARD:10706,Active,Orphanet,ORPHA:309854,Disorder,[Disease],Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,,"A rare disorder of manganese transport characterized by childhood onset of extrapyramidal movement disorder (including dystonia, tremor, and bradykinesia), liver cirrhosis, polycythemia, and hypermanganesemia. Cases with spastic paraparesis without extrapyramidal dysfunction have also been reported. Cognitive functions are preserved. Brain imaging findings are consistent with deposition of manganese in the basal ganglia, dentate nucleus, brain stem, and anterior pituitary.",[613280],,,,,Hypermanganesemia with dystonia polycythemia and cirrhosis,TRUE,FALSE,Active +GARD:10707,Active,Orphanet,ORPHA:90024,Disorder,[Malformation syndrome],"Deafness with labyrinthine aplasia, microtia, and microdontia","[Hearing loss with labyrinthine aplasia, microtia, and microdontia, LAMM syndrome, Microdontia-type I microtia-deafness syndrome, Microdontia-type I microtia-hearing loss syndrome]","Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.",[610706],,,,,Deafness with labyrinthine aplasia microtia and microdontia (LAMM),TRUE,FALSE,Active +GARD:10708,Active,Orphanet,ORPHA:97249,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 3,"[Cerebellar atrophy with progressive microcephaly, PCH3]","A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent.",[608027],,,,,Pontocerebellar hypoplasia type 3,TRUE,FALSE,Active +GARD:10709,Legacy,GARD,,,,,,,,,,,,Pontocerebellar hypoplasia type 5,TRUE,FALSE,Active +GARD:1071,Active,Orphanet+OMIM,OMIM:211990,Subtype of disorder,[Malformation syndrome subtype],"Camptomelic syndrome, long-limb type","[Campomelic syndrome, long-limb type]",,[211990],[140],[Campomelic dysplasia],[10027],,Camptomelic syndrome long limb type,TRUE,FALSE,Active +GARD:10710,Active,Orphanet,ORPHA:166073,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 6,"[Fatal infantile encephalopathy with mitochondrial respiratory chain defects, PCH6]","A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis.",[611523],,,,,Pontocerebellar hypoplasia type 6,TRUE,FALSE,Active +GARD:10711,Active,Orphanet,ORPHA:98497,Group of disorders,[Category],Genetic peripheral neuropathy,,,,,,,,Genetic peripheral neuropathy,TRUE,FALSE,Retired +GARD:10712,Legacy,GARD,,,,,,,,,,,,Progressive transformation of germinal centers,TRUE,FALSE,Active +GARD:10713,Active,Orphanet,ORPHA:60039,Disorder,[Disease],Pudendal neuralgia,"[Alcock syndrome, Pudendal algia, Pudendal nerve entrapment syndrome, Pudendal neuralgia by pudendal nerve entrapment, Pudendalgia]","A rare, acquired peripheral neuropathy disease characterized by chronic neuropathic pain involving the sensory territory of the pudendal nerve (from clitoris to anus or from penis to anus), aggravated by sitting and for which no organic cause can be found by imaging studies or laboratory tests. It is often associated with pelvic dysfunction.",,,,,,Pudendal Neuralgia,TRUE,FALSE,Active +GARD:10714,Active,Orphanet,ORPHA:137605,Disorder,[Malformation syndrome],Legius syndrome,"[NF1-like syndrome, Neurofibromatosis 1-like syndrome]","Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.",[611431],,,,,Legius syndrome,TRUE,FALSE,Active +GARD:10715,Legacy,GARD,,,,,,,,,,,,Diploid-triploid mosaicism,TRUE,FALSE,Active +GARD:10716,Active,Orphanet,ORPHA:391417,Disorder,[Disease],HSD10 disease,"[2-methyl-3-hydroxybutyric aciduria, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, HSD10 deficiency, MHBD deficiency]","HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.",[300438],,,,,HSD10 disease,TRUE,FALSE,Active +GARD:10717,Legacy,GARD,,,,,,,,,,,,Hydroxyprolinemia,TRUE,FALSE,Active +GARD:10718,Legacy,GARD,,,,,,,,,,,,Heinz body anemias,TRUE,FALSE,Active +GARD:10719,Active,Orphanet,ORPHA:2701,Disorder,[Malformation syndrome],Noonan syndrome-like disorder with loose anagen hair,"[Mazzanti syndrome, NS/LAH]","A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichtyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.","[617506, 607721]",,,,,Noonan-like syndrome with loose anagen hair,TRUE,FALSE,Active +GARD:1072,Active,Orphanet,ORPHA:1328,Disorder,[Malformation syndrome],Camurati-Engelmann disease,[Progressive diaphyseal dysplasia],"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.",[131300],,,,,Camurati-Engelmann disease,TRUE,FALSE,Active +GARD:10720,Legacy,GARD,,,,,,,,,,,,Trichuriasis,TRUE,FALSE,Active +GARD:10721,Legacy,GARD,,,,,,,,,,,,Kingella infections,TRUE,FALSE,Active +GARD:10722,Legacy,GARD,,,,,,,,,,,,Monkeypox,TRUE,FALSE,Active +GARD:10723,Legacy,GARD,,,,,,,,,,,,Pineal cyst,FALSE,FALSE,Retired +GARD:10724,Legacy,GARD,,,,,,,,,,,,Bone marrow necrosis,FALSE,FALSE,Active +GARD:10725,Legacy,GARD,,,,,,,,,,,,Odontogenic myxoma,TRUE,FALSE,Active +GARD:10726,Active,Orphanet+OMIM,OMIM:277300,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 1, autosomal recessive","[spondylothoracic dysplasia, Vertebral anomalies, spondylothoracic dysostosis, costovertebral dysplasia, jarcho-levin syndrome]","The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. The term 'spondylocostal dysostosis' is best applied to those phenotypes with generalized SDV and a broadly symmetric thoracic cage (summary by {18:Gucev et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Spondylocostal Dysostosis\n\nOther forms of SCDO include SCDO2 ({608681}), caused by mutation in the MESP2 gene ({605195}) on chromosome 15q26; SCDO3 ({609813}), caused by mutation in the LFNG gene ({602576}) on chromosome 7p22; SCDO4 ({613686}), caused by mutation in the HES7 gene ({608059}) on chromosome 17p13; SCDO5 ({122600}), caused by mutation in the TBX6 gene ({602427}) on chromosome 16p11; and SCDO6 ({616566}), caused by mutation in the RIPPLY2 gene ({609891}) on chromosome 6q14.",[277300],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 1,TRUE,FALSE,Active +GARD:10727,Active,Orphanet,ORPHA:96169,Disorder,[Malformation syndrome],Koolen-De Vries syndrome,[KdVS],"A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.",[610443],,,,,Koolen de Vries syndrome,TRUE,FALSE,Active +GARD:10728,Active,Orphanet,ORPHA:439854,Disorder,[Disease],Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,"[Fatal congenital hypertrophic cardiomyopathy due to GSD, Fatal congenital hypertrophic cardiomyopathy due to glycogenosis]","A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases.",[261740],,,,,Lethal congenital glycogen storage disease of the heart,FALSE,FALSE,Active +GARD:10729,Active,Orphanet,ORPHA:77293,Disorder,[Disease],Chronic visceral acid sphingomyelinase deficiency,"[Chronic visceral ASMD, NPD-B, Niemann-Pick disease type B]","A rare autosomal recessive, chronic, acid sphingomyelinase deficiency characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, interstitial lung disease and absence of neurodegenerative disorders.",[607616],,,,,Niemann-Pick disease type B,TRUE,FALSE,Active +GARD:10730,Active,Orphanet,ORPHA:79096,Disorder,[Disease],Pyridoxal phosphate-responsive seizures,"[PNPO deficiency, PNPO-related neonatal epileptic encephalopathy, Pyridoxal phosphate-dependent seizures, Pyridoxamine 5'-oxidase deficiency, Pyridoxamine 5'-phosphate oxidase deficiency]","A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.",[610090],,,,,Pyridoxal 5'-phosphate-dependent epilepsy,TRUE,FALSE,Active +GARD:10731,Active,Orphanet,ORPHA:59306,Disorder,[Disease],McLeod neuroacanthocytosis syndrome,"[MLS, X-linked McLeod syndrome]","McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.",[300842],,,,,McLeod neuroacanthocytosis syndrome,TRUE,FALSE,Active +GARD:10732,Active,Orphanet,ORPHA:542310,Disorder,[Disease],Leukoencephalopathy with calcifications and cysts,"[LCC, Labrune syndrome]","A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.",[614561],,,,,"Leukoencephalopathy, cerebral calcifications, and cysts",TRUE,FALSE,Active +GARD:10733,Legacy,GARD,,,,,,,,,,,,Intravascular papillary endothelial hyperplasia,TRUE,FALSE,Active +GARD:10734,Active,Orphanet,ORPHA:284343,Subtype of disorder,[Clinical subtype],Pleuropulmonary blastoma familial tumor susceptibility syndrome,"[DICER1 syndrome, PPB familial tumor susceptibility syndrome, PPBFTDS, Pleuro-pulmonary blastoma familial tumor susceptibility syndrome]",,[601200],,,,,DICER1-related pleuropulmonary blastoma cancer predisposition syndrome,TRUE,FALSE,Active +GARD:10737,Legacy,GARD,,,,,,,,,,,,Posner-Schlossman syndrome,TRUE,FALSE,Active +GARD:10738,Active,Orphanet,ORPHA:93600,Subtype of disorder,[Clinical subtype],Primary hyperoxaluria type 3,,,[613616],,,,,Primary hyperoxaluria type 3,TRUE,FALSE,Active +GARD:10739,Active,Orphanet,ORPHA:216,Group of disorders,[Clinical group],Neuronal ceroid lipofuscinosis,[NCL],"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.",,,,,,Neuronal ceroid lipofuscinosis,TRUE,FALSE,Active +GARD:10740,Active,Orphanet,ORPHA:261197,Disorder,[Malformation syndrome],Proximal 16p11.2 microdeletion syndrome,"[Proximal del(16)(p11.2), Proximal monosomy 16p11.2]","The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.",[611913],,,,,16p11.2 deletion syndrome,TRUE,FALSE,Active +GARD:10741,Active,Orphanet,ORPHA:99642,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Handigodu type",,"Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging.",[613343],,,,,"Spondyloepimetaphyseal dysplasia, Handigodu type",FALSE,FALSE,Active +GARD:10742,Legacy,GARD,,,,,,,,,,,,Madras motor neuron disease,FALSE,FALSE,Active +GARD:10743,Legacy,GARD,,,,,,,,,,,,Persistent genital arousal disorder,TRUE,FALSE,Active +GARD:10744,Active,Orphanet,ORPHA:617910,Disorder,[Disease],Conjunctival malignant melanoma,[Conjunctival melanoma],,,,,,,Conjunctival melanoma,TRUE,FALSE,Active +GARD:10745,Legacy,GARD,,,,,,,,,,,,Orbital melanoma,TRUE,FALSE,Retired +GARD:10746,Legacy,GARD,,,,,,,,,,,,Hemochromatosis,FALSE,FALSE,Active +GARD:10747,Legacy,GARD,,,,,,,,,,,,Lupus nephritis,TRUE,FALSE,Active +GARD:10748,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia,TRUE,FALSE,Active +GARD:10749,Legacy,GARD,,,,,,,,,,,,Chromhidrosis,TRUE,FALSE,Active +GARD:10750,Legacy,GARD,,,,,,,,,,,,Diffuse cavernous hemangioma of the rectum,TRUE,FALSE,Active +GARD:10751,Legacy,GARD,,,,,,,,,,,,Vitiligo,FALSE,FALSE,Active +GARD:10752,Active,Orphanet,ORPHA:304,Group of disorders,[Clinical group],Epidermolysis bullosa simplex,[EBS],A group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.,,,,,,Epidermolysis bullosa simplex,TRUE,FALSE,Active +GARD:10753,Active,Orphanet,ORPHA:2309,Disorder,[Disease],Pachyonychia congenita,[PC],"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.","[167200, 260130, 615728, 615726, 167210]",,,,,Pachyonychia congenita,TRUE,FALSE,Active +GARD:10754,Active,Orphanet,ORPHA:353281,Subtype of disorder,[Etiological subtype],Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,,,[610543],,,,,Chromosome 16p13.3 deletion syndrome,TRUE,FALSE,Active +GARD:10755,Active,Orphanet,ORPHA:96078,Disorder,[Malformation syndrome],16p13.3 microduplication syndrome,"[Distal duplication 16p, Distal trisomy 16p, Dup(16)(p13.3), Telomeric duplication 16p, Trisomy 16pter]","16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.",[613458],,,,,Chromosome 16p13.3 duplication,TRUE,FALSE,Active +GARD:10756,Active,Orphanet,ORPHA:251,Group of disorders,[Clinical group],Multiple epiphyseal dysplasia,"[EDM, MED, Polyepiphyseal dysplasia]","A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.",,,,,,Multiple epiphyseal dysplasia,TRUE,FALSE,Active +GARD:10757,Legacy,GARD,,,,,,,,,,,,Exogenous ochronosis,TRUE,FALSE,Active +GARD:10758,Active,Orphanet,ORPHA:97593,Group of disorders,[Category],Pseudohypoparathyroidism,,"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms).",,,,,,Pseudohypoparathyroidism,TRUE,FALSE,Active +GARD:10759,Legacy,GARD,,,,,,,,,,,,Hemangioma,FALSE,FALSE,Active +GARD:1076,Legacy,GARD,,,,,,,,,,,,Systemic candidiasis,TRUE,FALSE,Active +GARD:10760,Active,Orphanet,ORPHA:137625,Disorder,[Disease],Glycogen storage disease due to muscle and heart glycogen synthase deficiency,"[GSD due to muscle and heart glycogen synthase deficiency, GSD type 0b, Glycogen storage disease type 0b, Glycogenosis due to muscle and heart glycogen synthase deficiency, Glycogenosis type 0b]","Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.",[611556],,,,,"Glycogen storage disease type 0, muscle",TRUE,FALSE,Active +GARD:10761,Active,Orphanet,ORPHA:19,Group of disorders,[Clinical group],2-hydroxyglutaric aciduria,[2-hydroxyglutaric acidemia],"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.",,,,,,2-Hydroxyglutaric aciduria,TRUE,FALSE,Active +GARD:10762,Active,Orphanet,ORPHA:289601,Disorder,[Disease],Hereditary arterial and articular multiple calcification syndrome,"[CALJA, Calcification of joints and arteries]","Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.",[211800],,,,,ACDC,TRUE,FALSE,Active +GARD:10763,Active,Orphanet+OMIM,OMIM:126800,Subtype of disorder,[Malformation syndrome subtype],Duane retraction syndrome 1,,"Duane retraction syndrome is a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision ({2:Appukuttan et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Duane Retraction Syndrome\n\nDuane retraction syndrome-1 (DURS1) maps to chromosome 8q13. DURS2 ({604356}) is caused by mutation in the CHN1 gene ({118423}) on chromosome 2q31. DURS3 ({617041}) is caused by mutation in the MAFB gene ({608968}) on chromosome 20q12.",[126800],[233],[Duane retraction syndrome],[6288],,Duane syndrome type 1,TRUE,FALSE,Retired +GARD:10764,Active,Orphanet,ORPHA:289891,Disorder,[Disease],Hypermethioninemia due to glycine N-methyltransferase deficiency,"[Glycine N-methyltransferase deficiency, Hypermethioninemia due to GNMT deficiency]","Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine.",[606664],,,,,Glycine N-methyltransferase deficiency,TRUE,FALSE,Active +GARD:10765,Legacy,GARD,,,,,,,,,,,,Chromosome 9 inversion,FALSE,FALSE,Active +GARD:10766,Active,Orphanet,ORPHA:331,Disorder,[Disease],Congenital factor XIII deficiency,[Fibrin-stabilizing factor deficiency],Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.,"[613235, 613225]",,,,,Factor XIII deficiency,TRUE,FALSE,Active +GARD:10767,Active,Orphanet,ORPHA:79330,Disorder,[Disease],MOGS-CDG,"[CDG syndrome type IIb, CDG-IIb, CDG2B, Carbohydrate deficient glycoprotein syndrome type IIb, Congenital disorder of glycosylation type 2b, Congenital disorder of glycosylation type IIb, Glucosidase 1 deficiency]","MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).",[606056],,,,,MOGS-CDG (CDG-IIb),TRUE,FALSE,Active +GARD:10768,Active,Orphanet,ORPHA:569,Disorder,[Disease],Familial or sporadic hemiplegic migraine,,A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).,"[607516, 609634, 141500, 602481]",,,,,Familiar or sporadic hemiplegic migraine,TRUE,FALSE,Active +GARD:10769,Active,Orphanet,ORPHA:59135,Disorder,[Disease],Laing early-onset distal myopathy,"[Distal myopathy type 1, Gowers disease, MPD1]","Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.",[160500],,,,,Laing distal myopathy,TRUE,FALSE,Active +GARD:1077,Active,Orphanet,ORPHA:1334,Disorder,[Disease],Chronic mucocutaneous candidiasis,[CMC],"A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.","[607644, 247650, 252250, 613956, 613953, 613108, 114580, 616445, 615527]",,,,,Autosomal recessive candidiasis familial chronic mucocutaneous,TRUE,FALSE,Active +GARD:10770,Legacy,GARD,,,,,,,,,,,,Homocystinuria,TRUE,FALSE,Active +GARD:10771,Active,Orphanet,ORPHA:478,Subtype of disorder,[Clinical subtype],Kallmann syndrome,"[Congenital hypogonadotropic hypogonadism with anosmia, Olfacto-genital pathological sequence]","Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).","[308700, 614837, 612370, 614838, 610628, 615267, 616030, 614897, 614840, 615269, 618841, 615270, 244200, 614858, 612702, 615271, 147950, 614880, 615266]",,,,,Kallmann syndrome,TRUE,FALSE,Active +GARD:10772,Active,Orphanet+OMIM,OMIM:610628,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 4 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {5:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[610628],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 4,TRUE,FALSE,Active +GARD:10773,Active,Orphanet+OMIM,OMIM:612370,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 5 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {5:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[612370],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 5,TRUE,FALSE,Active +GARD:10774,Active,Orphanet+OMIM,OMIM:612702,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 6 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[612702],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 6,TRUE,FALSE,Active +GARD:10775,Active,Orphanet,ORPHA:228426,Disorder,[Disease],Syndromic multisystem autoimmune disease due to Itch deficiency,,"Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.",[613385],,,,,ITCH E3 ubiquitin ligase deficiency,TRUE,FALSE,Active +GARD:10776,Legacy,GARD,,,,,,,,,,,,Benign metastasizing leiomyoma,TRUE,FALSE,Active +GARD:10777,Active,Orphanet,ORPHA:168816,Disorder,[Disease],Peritoneal cystic mesothelioma,"[Benign multicystic peritoneal mesothelioma, Multicystic mesothelioma, Multilocular peritoneal inclusion cyst]",Peritoneal cystic mesothelioma is a rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses.,,,,,,Benign multicystic peritoneal mesothelioma,TRUE,FALSE,Active +GARD:10778,Active,Orphanet,ORPHA:169142,Disorder,[Disease],Recurrent infection due to specific granule deficiency,[Neutrophil-specific granule deficiency],"A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.","[245480, 617475]",,,,,Neutrophil-specific granule deficiency,TRUE,FALSE,Active +GARD:10779,Active,Orphanet,ORPHA:284448,Disorder,[Disease],CLIPPERS,[Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids],"CLIPPERS is a rare neuroinflammatory disorder characterized by brainstem-predominant encephalomyelitis which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesias), as well as brainstem, myelopathy and cognitive findings, that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology.",,,,,,Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids,TRUE,FALSE,Active +GARD:1078,Active,Orphanet,ORPHA:2233,Disorder,[Disease],Hypogonadism-mitral valve prolapse-intellectual disability syndrome,[Cantalamessa-Baldini-Ambrosi syndrome],"This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.",,,,,,Cantalamessa Baldini Ambrosi syndrome,TRUE,FALSE,Active +GARD:10780,Active,Orphanet,ORPHA:617916,Disorder,[Disease],Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,,,,,,,,Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,TRUE,FALSE,Active +GARD:10781,Active,Orphanet,ORPHA:53540,Disorder,[Disease],Goldmann-Favre syndrome,"[Enhanced S-cone syndrome, Retinoschisis with early nyctalopia]","Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).",[268100],,,,,Goldmann-Favre syndrome,TRUE,FALSE,Active +GARD:10782,Active,Orphanet,ORPHA:828,Disorder,[Disease],Stickler syndrome,[Hereditary progressive arthroophthalmopathy],"A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct folded membrane, and Stickler type 2 by sparse and irregularly thickened bundles of fibers throughout the vitreous cavity.","[614134, 614284, 609508, 108300, 604841]",,,,,Stickler syndrome,TRUE,FALSE,Active +GARD:10783,Active,Orphanet,ORPHA:208444,Subtype of disorder,[Clinical subtype],Bilateral frontal polymicrogyria,,,,,,,,Bilateral frontal polymicrogyria,TRUE,FALSE,Active +GARD:10784,Active,Orphanet,ORPHA:101070,Subtype of disorder,[Clinical subtype],Bilateral frontoparietal polymicrogyria,,"Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.",[606854],,,,,Bilateral frontoparietal polymicrogyria,TRUE,FALSE,Active +GARD:10785,Active,Orphanet,ORPHA:208441,Subtype of disorder,[Clinical subtype],Bilateral parasagittal parieto-occipital polymicrogyria,,,[612691],,,,,Bilateral parasagittal parieto-occipital polymicrogyria,TRUE,FALSE,Active +GARD:10786,Active,Orphanet,ORPHA:208447,Subtype of disorder,[Clinical subtype],Bilateral generalized polymicrogyria,,,,,,,,Bilateral generalized polymicrogyria,TRUE,FALSE,Active +GARD:10787,Legacy,GARD,,,,,,,,,,,,Spina bifida occulta,FALSE,FALSE,Active +GARD:10788,Active,Orphanet,ORPHA:60030,Disorder,[Malformation syndrome],Loeys-Dietz syndrome,[Aortic aneurysm syndrome due to TGF-beta receptors anomalies],"Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.","[610168, 609192]",,,,,Loeys-Dietz syndrome,TRUE,FALSE,Active +GARD:10790,Active,Orphanet,ORPHA:1872,Disorder,[Disease],Cone rod dystrophy,,"A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.","[300476, 604116, 303700, 618555, 610381, 604393, 120970, 616502, 304020, 605549, 610478, 602093, 300834, 615973, 612657, 610283, 614500, 600977, 608194, 603649, 601777, 615163, 615860, 613660, 612775, 600624, 615374]",,,,,Cone-rod dystrophy,TRUE,FALSE,Active +GARD:10791,Active,Orphanet,ORPHA:250831,Disorder,[Disease],Logopenic progressive aphasia,"[LPA, Logopenic primary progressive aphasia, Logopenic variant PPA]","Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA; see this term), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.",,,,,,Logopenic progressive aphasia,TRUE,FALSE,Active +GARD:10792,Active,Orphanet,ORPHA:100069,Disorder,[Disease],Semantic dementia,"[Semantic primary progressive aphasia, Semantic variant PPA]","Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.","[172700, 600274]",,,,,Semantic dementia,TRUE,FALSE,Active +GARD:10793,Active,Orphanet,ORPHA:100070,Disorder,[Disease],Progressive non-fluent aphasia,"[Agramatic variant of PPA, Agramatic variant of primary progressive aphasia, Non-fluent variant PPA]","Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.","[172700, 607485, 600274]",,,,,Progressive non-fluent aphasia,TRUE,FALSE,Active +GARD:10794,Active,Orphanet,ORPHA:157835,Disorder,[Disease],Paroxysmal hemicrania,,A rare primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with ipsilateral cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.,,,,,,Paroxysmal hemicrania,TRUE,FALSE,Active +GARD:10795,Active,Orphanet,ORPHA:443070,Disorder,[Disease],Hemicrania continua,,"A rare trigeminal autonomic cephalalgia characterized by indomethacin-sensitive, persistent, strictly unilateral headache lasting for more than three months, associated with ipsilateral conjunctival injection, lacrimation, nasal congestion, rhinorrhea, forehead and facial sweating, miosis, ptosis, eyelid edema, and/or restlessness or agitation, and not better accounted for by another type of headache. Migrainous symptoms such as photophobia are often observed. The headache may be continuous (unremitting subtype) or interrupted by remission periods of more than 24 hours (remitting subtype).",,,,,,Hemicrania continua,TRUE,FALSE,Active +GARD:10796,Active,Orphanet,ORPHA:276429,Disorder,[Disease],Hypnic headache,,"A rare headache characterized by recurrent brief, intense headache attacks occurring exclusively during sleep, typically at the same time of the night, causing the patient to wake up. The pain usually lasts more than 15 minutes after waking. It is mostly bilateral and may be associated with nausea, photophobia, or phonophobia, while characteristically no autonomic symptoms are present.",,,,,,Hypnic headache,TRUE,FALSE,Active +GARD:10797,Legacy,GARD,,,,,,,,,,,,New daily-persistent headache,TRUE,FALSE,Active +GARD:10798,Legacy,GARD,,,,,,,,,,,,Thunderclap headache,TRUE,FALSE,Active +GARD:10799,Legacy,GARD,,,,,,,,,,,,Cough headache,TRUE,FALSE,Active +GARD:108,Active,Orphanet,ORPHA:206583,Subtype of disorder,[Clinical subtype],Adult polyglucosan body disease,[APBD],"A glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.",[263570],,,,,Adult polyglucosan body disease,TRUE,FALSE,Active +GARD:10800,Legacy,GARD,,,,,,,,,,,,Exertional headache,TRUE,FALSE,Active +GARD:10801,Active,Orphanet,ORPHA:34149,Disorder,[Disease],Autosomal dominant tubulointerstitial kidney disease,"[ADTKD, Familial juvenile hyperuricemic nephropathy, MCKD, Medullary cystic kidney disease]","A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD).","[162000, 174000]",,,,,Autosomal dominant tubulointerstitial kidney disease,TRUE,FALSE,Active +GARD:10802,Legacy,GARD,,,,,,,,,,,,Intravenous leiomyomatosis,TRUE,FALSE,Active +GARD:10803,Active,Orphanet,ORPHA:313,Disorder,[Disease],Lamellar ichthyosis,"[Classic lamellar ichthyosis, Congenital lamellar ichthyosis, LI]",Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.,"[242300, 604777, 617571, 606545, 613943, 612281, 601277]",,,,,Lamellar ichthyosis,TRUE,FALSE,Active +GARD:10804,Active,Orphanet,ORPHA:213531,Disorder,[Disease],Metaplastic carcinoma of the breast,,"Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.",,,,,,Metaplastic carcinoma of the breast,TRUE,FALSE,Active +GARD:10805,Active,Orphanet,ORPHA:247798,Subtype of disorder,[Clinical subtype],MUTYH-related attenuated familial adenomatous polyposis,"[MUTYH-related AFAP, MUTYH-related attenuated FAP, MUTYH-related attenuated familial polyposis coli]",,[608456],,,,,MYH-associated polyposis,TRUE,FALSE,Active +GARD:10806,Active,Orphanet,ORPHA:101039,Disorder,[Disease],Female restricted epilepsy with intellectual disability,"[EFMR, Juberg-Hellman syndrome]","Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.",[300088],,,,,PCDH19-related female-limited epilepsy,TRUE,FALSE,Active +GARD:10807,Legacy,GARD,,,,,,,,,,,,Infantile scoliosis,TRUE,FALSE,Active +GARD:10808,Active,Orphanet,ORPHA:411593,Disorder,[Disease],Insulin autoimmune syndrome,[Hirata disease],"A rare endocrine disease characterized by hyperinsulinemic hypoglycemia associated with the presence of autoantibodies to endogenous insulin without previous exposure to exogenous insulin. Patients usually present in adulthood with postprandial, fasting-, or exercise-induced hypoglycemia, often with pronounced neuroglycopenic symptoms. Laboratory investigations reveal markedly elevated serum insulin, as well as increased C-peptide and proinsulin. The condition may be associated with other autoimmune diseases, monoclonal gammopathy, and/or recent exposure to certain medications.",,,,,,Insulin autoimmune syndrome,TRUE,FALSE,Active +GARD:10809,Active,Orphanet,ORPHA:279947,Disorder,[Clinical syndrome],Postorgasmic illness syndrome,[POIS],"Postorgasmic illness syndrome is a rare urogenital disease characterized by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset.",,,,,,Postorgasmic illness syndrome,TRUE,FALSE,Active +GARD:1081,Legacy,GARD,,,,,,,,,,,,Cantu Sanchez-Corona Fragoso syndrome,TRUE,FALSE,Active +GARD:10810,Active,Orphanet,ORPHA:329308,Disorder,[Disease],Fatty acid hydroxylase-associated neurodegeneration,[FAHN],"Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.",[612319],,,,,Fatty acid hydroxylase-associated neurodegeneration,TRUE,FALSE,Active +GARD:10811,Legacy,GARD,,,,,,,,,,,,Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature,TRUE,FALSE,Active +GARD:10812,Legacy,GARD,,,,,,,,,,,,Patulous Eustachian Tube,FALSE,FALSE,Active +GARD:10813,Active,Orphanet,ORPHA:250989,Disorder,[Malformation syndrome],1q21.1 microdeletion syndrome,"[Del(1)(q21), Monosomy 1q21.1]",1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.,[612474],,,,,1q21.1 microdeletion syndrome,TRUE,FALSE,Active +GARD:10814,Active,Orphanet,ORPHA:79102,Disorder,[Disease],Thyrotoxic periodic paralysis,[Thyrotoxic hypokalemic periodic paralysis],Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.,"[614834, 613239, 188580]",,,,,Thyrotoxic periodic paralysis,TRUE,FALSE,Active +GARD:10815,Legacy,GARD,,,,,,,,,,,,Prothrombin-related thrombophilia,TRUE,FALSE,Active +GARD:10816,Active,Orphanet,ORPHA:254463,Disorder,[Disease],Lichen planus pigmentosus,"[LP pigmentosa, LP pigmentosus, Lichen planus pigmentosa, Lichen planus pigmentosus inversus]",Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus (see this term) characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.,,,,,,Lichen planus pigmentosus,TRUE,FALSE,Active +GARD:10817,Active,Orphanet,ORPHA:101011,Disorder,[Disease],Autosomal dominant spastic paraplegia type 31,[SPG31],"A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.",[610250],,,,,Spastic paraplegia 31,TRUE,FALSE,Active +GARD:10818,Active,Orphanet,ORPHA:289504,Disorder,[Disease],Combined malonic and methylmalonic acidemia,"[CMAMMA, Combined malonic and methylmalonic aciduria]","Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.",[614265],,,,,Combined malonic and methylmalonic aciduria,TRUE,FALSE,Active +GARD:10819,Legacy,GARD,,,,,,,,,,,,Sickle delta beta thalassemia,TRUE,FALSE,Active +GARD:1082,Legacy,GARD,,,,,,,,,,,,Cantu Sanchez-Corona Garcia-Cruz syndrome,TRUE,FALSE,Active +GARD:10820,Legacy,GARD,,,,,,,,,,,,California encephalitis,TRUE,FALSE,Active +GARD:10821,Active,Orphanet,ORPHA:83594,Disorder,[Disease],Eastern equine encephalitis,[Eastern equine encephalomyelitis],"An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.",,,,,,Eastern equine encephalitis,TRUE,FALSE,Active +GARD:10822,Active,Orphanet,ORPHA:458718,Disorder,[Disease],Idiopathic spontaneous coronary artery dissection,[Idiopathic SCAD],"A rare vascular disease characterized by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women.",[122455],,,,,Spontaneous coronary artery dissection,TRUE,FALSE,Active +GARD:10823,Active,Orphanet,ORPHA:71526,Subtype of disorder,[Etiological subtype],Obesity due to pro-opiomelanocortin deficiency,[POMC deficiency],"Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.","[601665, 609734]",,,,,Proopiomelanocortin deficiency,TRUE,FALSE,Active +GARD:10824,Active,Orphanet,ORPHA:189427,Disorder,[Disease],Cushing syndrome due to macronodular adrenal hyperplasia,[Primary bilateral macronodular adrenal hyperplasia],A rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.,"[219080, 615954]",,,,,ACTH-independent macronodular adrenal hyperplasia,TRUE,FALSE,Active +GARD:10825,Legacy,GARD,,,,,,,,,,,,Tufted hair folliculitis,TRUE,FALSE,Retired +GARD:10826,Legacy,GARD,,,,,,,,,,,,Central centrifugal cicatricial alopecia,TRUE,FALSE,Active +GARD:10827,Legacy,GARD,,,,,,,,,,,,KSHV inflammatory cytokine syndrome,TRUE,FALSE,Active +GARD:10828,Active,Orphanet,ORPHA:405,Disorder,[Disease],Familial hypocalciuric hypercalcemia,"[FBH, FBHH, FHH, Familial benign hypercalcemia, Familial benign hypocalciuric hypercalcemia]",Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.,"[145981, 600740, 145980]",,,,,Familial hypocalciuric hypercalcemia,TRUE,FALSE,Active +GARD:10829,Active,Orphanet,ORPHA:99880,Disorder,[Disease],Hyperparathyroidism-jaw tumor syndrome,[HPT-JT],"A rare genetic disease characterized by synchronous or metachronous occurrence of primary hyperparathyroidism and ossifying fibroma of the maxilla and/or mandible, associated with an increased risk of parathyroid carcinoma. Occurrence of renal cysts or tumors, multiple uterine polyps, and thyroid tumors has also been reported.",[145001],,,,,Hyperparathyroidism-jaw tumor syndrome,TRUE,FALSE,Active +GARD:1083,Legacy,GARD,,,,,,,,,,,,Cantu Sanchez-Corona Hernandez syndrome,TRUE,FALSE,Active +GARD:10830,Active,Orphanet,ORPHA:263432,Disorder,[Disease],Nevus of Ito,[Nevus fuscocaeruleus acromiodeltoideus],"Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.",,,,,,Nevus of Ito,TRUE,FALSE,Active +GARD:10831,Legacy,GARD,,,,,,,,,,,,1q duplications,TRUE,FALSE,Active +GARD:10832,Legacy,GARD,,,,,,,,,,,,Chromosome 1p duplication,TRUE,FALSE,Active +GARD:10833,Legacy,GARD,,,,,,,,,,,,Chromosome 19q deletion,TRUE,FALSE,Active +GARD:10834,Legacy,GARD,,,,,,,,,,,,Chromosome 19p duplication,TRUE,FALSE,Active +GARD:10835,Legacy,GARD,,,,,,,,,,,,Chromosome 19p deletion,TRUE,FALSE,Active +GARD:10836,Legacy,GARD,,,,,,,,,,,,Chromosome 2p deletion,TRUE,FALSE,Active +GARD:10837,Active,Orphanet,ORPHA:96171,Disorder,[Malformation syndrome],Ring chromosome 2 syndrome,"[Ring 2, Ring chromosome 2]","Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).",,,,,,Ring chromosome 2,TRUE,FALSE,Active +GARD:10838,Legacy,GARD,,,,,,,,,,,,Chromosome 3q deletion,TRUE,FALSE,Active +GARD:10839,Active,Orphanet,ORPHA:96172,Disorder,[Malformation syndrome],Ring chromosome 3 syndrome,"[Ring 3, Ring chromosome 3]","Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.",,,,,,Ring chromosome 3,TRUE,FALSE,Active +GARD:1084,Active,Orphanet,ORPHA:188,Disorder,[Disease],Systemic capillary leak syndrome,"[Capillary hyperpermeability syndrome, Capillary leak syndrome, Clarkson disease, Idiopathic capillary leak syndrome, SCLS]","Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia.",,,,,,Systemic capillary leak syndrome,TRUE,FALSE,Active +GARD:10840,Legacy,GARD,,,,,,,,,,,,Chromosome 5q deletion,TRUE,FALSE,Active +GARD:10841,Active,Orphanet,ORPHA:251043,Disorder,[Malformation syndrome],Ring chromosome 5 syndrome,"[Ring 5, Ring chromosome 5]","Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).",,,,,,Ring chromosome 5,TRUE,FALSE,Active +GARD:10842,Legacy,GARD,,,,,,,,,,,,Chromosome 5p deletion,TRUE,FALSE,Active +GARD:10843,Legacy,GARD,,,,,,,,,,,,Chromosome 6p deletion,TRUE,FALSE,Active +GARD:10844,Legacy,GARD,,,,,,,,,,,,Chromosome 9q deletion,TRUE,FALSE,Active +GARD:10845,Legacy,GARD,,,,,,,,,,,,Chromosome 11p duplication,TRUE,FALSE,Active +GARD:10846,Active,Orphanet,ORPHA:96175,Disorder,[Malformation syndrome],Ring chromosome 11 syndrome,"[RC11, Ring 11, Ring chromosome 11, r(11) syndrome]","Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.",,,,,,Ring chromosome 11,TRUE,FALSE,Active +GARD:10847,Legacy,GARD,,,,,,,,,,,,Chromosome 12q deletion,TRUE,FALSE,Active +GARD:10853,Legacy,GARD,,,,,,,,,,,,Chromosome 16p deletion,TRUE,FALSE,Active +GARD:10854,Legacy,GARD,,,,,,,,,,,,Chromosome 16q deletion,TRUE,FALSE,Active +GARD:10855,Active,Orphanet,ORPHA:96178,Disorder,[Malformation syndrome],Ring chromosome 16 syndrome,"[Ring 16, Ring chromosome 16]","A rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.",,,,,,Ring chromosome 16,TRUE,FALSE,Active +GARD:10856,Legacy,GARD,,,,,,,,,,,,Chromosome 20q duplication,TRUE,FALSE,Active +GARD:10857,Legacy,GARD,,,,,,,,,,,,Chromosome 20q deletion,TRUE,FALSE,Active +GARD:10858,Legacy,GARD,,,,,,,,,,,,Chromosome 21q duplication,TRUE,FALSE,Active +GARD:10860,Active,Orphanet,ORPHA:574,Disorder,[Malformation syndrome],Monosomy 21,"[21q deletion syndrome, 21q- syndrome, Partial 21q monosomy]","Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.",,,,,,Chromosome 21q deletion,TRUE,FALSE,Active +GARD:10862,Legacy,GARD,,,,,,,,,,,,Chromosome 22q duplication,TRUE,FALSE,Active +GARD:10865,Active,Orphanet,ORPHA:1600,Disorder,[Malformation syndrome],Monosomy 18q,"[18q deletion syndrome, 18q- syndrome, Deletion 18q]","Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.",[601808],,,,,Distal chromosome 18q deletion syndrome,TRUE,FALSE,Active +GARD:10866,Legacy,GARD,,,,,,,,,,,,Proximal chromosome 18q deletion syndrome,TRUE,FALSE,Active +GARD:10867,Active,Orphanet,ORPHA:867,Subtype of disorder,[Clinical subtype],Familial multiple trichoepithelioma,,,"[612099, 601606]",,,,,Multiple familial trichoepithelioma,TRUE,FALSE,Retired +GARD:10868,Legacy,GARD,,,,,,,,,,,,Mollaret meningitis,TRUE,FALSE,Active +GARD:10869,Legacy,GARD,,,,,,,,,,,,Mosaic trisomy 13,TRUE,FALSE,Active +GARD:10870,Active,Orphanet,ORPHA:834,Disorder,[Disease],Free sialic acid storage disease,,"Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).","[269920, 604369]",,,,,Free sialic acid storage disease,TRUE,FALSE,Active +GARD:10871,Active,Orphanet,ORPHA:309331,Subtype of disorder,[Clinical subtype],Intermediate severe Salla disease,,,,,,,,Intermediate severe Salla disease,TRUE,FALSE,Active +GARD:10872,Active,Orphanet,ORPHA:3148,Disorder,[Disease],Malignant peripheral nerve sheath tumor,"[MPNST, Malignant neurilemmoma, Malignant neurofibroma, Malignant schwannoma, Neurofibrosarcoma, Neurogenic sarcoma]",Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.,,,,,,Malignant peripheral nerve sheath tumor,TRUE,FALSE,Active +GARD:10874,Legacy,GARD,,,,,,,,,,,,Pancreatic agenesis,TRUE,FALSE,Retired +GARD:10875,Active,Orphanet,ORPHA:450,Group of disorders,[Category],Heterotaxia,"[Heterotaxy syndrome, Lateralization defect, Visceral heterotaxy]","Heterotaxia (coming from the Greek 'heteros' meaning different and 'taxis' meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (situs inversus totalis or situs inversus i.e. all the organs normally found on the right are on the left and vice versa) or partial (incomplete situs inversus i.e. a limited number of organs are inversed - or situs inversus ambiguous i.e. a normally lateral organ is centrally located).","[270100, 605376, 306955, 618948, 617205, 601086, 613751, 616749, 614779, 606325]",,,,,Heterotaxy,TRUE,FALSE,Active +GARD:10876,Active,Orphanet,ORPHA:3269,Disorder,[Morphological anomaly],Congenital radioulnar synostosis,[Radioulnar fusion],"Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.",[179300],,,,,Congenital radioulnar synostosis,TRUE,FALSE,Active +GARD:10877,Active,Orphanet,ORPHA:53715,Disorder,[Disease],Familial tumoral calcinosis,,"A phosphocalcic metabolism anomaly, occuring particularly among younger age groups, characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification. Two forms have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.","[610455, 211900]",,,,,Familial tumoral calcinosis,TRUE,FALSE,Active +GARD:10878,Active,Orphanet,ORPHA:306658,Subtype of disorder,[Clinical subtype],Familial normophosphatemic tumoral calcinosis,,,[610455],,,,,Normophosphatemic familial tumoral calcinosis,TRUE,FALSE,Active +GARD:10879,Active,Orphanet,ORPHA:306661,Subtype of disorder,[Clinical subtype],Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome,[Hypercalcemic tumoral calcinosis],"A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.","[617993, 617994, 211900]",,,,,Hyperphosphatemic familial tumoral calcinosis,TRUE,FALSE,Active +GARD:10880,Active,Orphanet+OMIM,OMIM:613829,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 7,,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {1:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[613829],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 7,TRUE,FALSE,Active +GARD:10881,Active,Orphanet+OMIM,OMIM:613835,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 8,,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {2:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[613835],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 8,TRUE,FALSE,Active +GARD:10882,Active,Orphanet+OMIM,OMIM:612712,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 13,,,[612712],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 13,TRUE,FALSE,Active +GARD:10883,Active,Orphanet+OMIM,OMIM:613341,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 14,,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa ({2:Gu et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}.",[613341],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 14,TRUE,FALSE,Active +GARD:10884,Active,Orphanet+OMIM,OMIM:613843,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 15,,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (summary by {2:Gu et al., 1997}).\n\nMutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; {600132}).\n\nFor a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}.",[613843],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 15,TRUE,FALSE,Active +GARD:10885,Active,Orphanet+OMIM,OMIM:614186,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 16,,,[614186],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 16,TRUE,FALSE,Active +GARD:10886,Active,Orphanet,ORPHA:254492,Disorder,[Disease],Frontal fibrosing alopecia,[FFA],"Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris (see this term) characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.",,,,,,Frontal fibrosing alopecia,TRUE,FALSE,Active +GARD:10887,Active,Orphanet,ORPHA:488265,Disorder,[Disease],Osteofibrous dysplasia,[OFD],"Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.",[607278],,,,,Osteofibrous dysplasia,TRUE,FALSE,Active +GARD:10888,Legacy,GARD,,,,,,,,,,,,Diffuse dermal angiomatosis,TRUE,FALSE,Active +GARD:10889,Active,Orphanet,ORPHA:73229,Disorder,[Disease],HANAC syndrome,"[Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome]","A rare multisystemic disease characterized by small-vessel brain disease, cerebral aneurysm, and extracerebral findings involving the kidney, muscle, and small vessels of the eye.",[611773],,,,,"Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome",TRUE,FALSE,Active +GARD:1089,Legacy,GARD,,,,,,,,,,,,Universal acquired melanosis,TRUE,FALSE,Active +GARD:10890,Active,Orphanet,ORPHA:141179,Disorder,[Disease],Non-involuting congenital hemangioma,[NICH],Non-involuting congenital hemangiomas (NICH) are a distinctive type of large congenital hemangioma that are fully formed in utero and differ from rapidly involuting congenital hemangiomas (RICH; see this term) mainly because they do not undergo a postnatal involuting phase.,,,,,,Non-involuting congenital hemangioma,TRUE,FALSE,Active +GARD:10891,Active,Orphanet,ORPHA:354,Disorder,[Disease],GM1 gangliosidosis,"[Beta-galactosidase-1 deficiency, GLB1 deficiency, Landing disease]","GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.","[230650, 230600, 230500]",,,,,GM1 gangliosidosis,TRUE,FALSE,Active +GARD:10892,Active,Orphanet,ORPHA:293642,Group of disorders,[Clinical group],Blepharophimosis-intellectual disability syndrome,[BMRS],,,,,,,Blepharophimosis intellectual disability syndromes,TRUE,FALSE,Active +GARD:10893,Legacy,GARD,,,,,,,,,,,,Aicardi-Goutieres syndrome type 1,TRUE,FALSE,Retired +GARD:10894,Legacy,GARD,,,,,,,,,,,,Aicardi-Goutieres syndrome type 2,TRUE,FALSE,Retired +GARD:10895,Legacy,GARD,,,,,,,,,,,,Aicardi-Goutieres syndrome type 3,TRUE,FALSE,Retired +GARD:10896,Legacy,GARD,,,,,,,,,,,,Aicardi-Goutieres syndrome type 4,TRUE,FALSE,Retired +GARD:10897,Legacy,GARD,,,,,,,,,,,,Gray zone lymphoma,TRUE,FALSE,Active +GARD:10898,Active,Orphanet,ORPHA:98872,Disorder,[Disease],Primary acquired pure red cell aplasia,[Primary acquired PRCA],"A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.",,,,,,Acquired pure red cell aplasia,TRUE,FALSE,Active +GARD:10899,Active,Orphanet,ORPHA:52430,Disorder,[Disease],Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,"[IBMPFD, Limb-girdle muscular dystrophy with Paget disease of bone, Pagetoid amyotrophic lateral sclerosis, Pagetoid neuroskeletal syndrome]","Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.","[167320, 615424, 615422]",,,,,Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia,TRUE,FALSE,Active +GARD:109,Active,Orphanet,ORPHA:2762,Disorder,[Malformation syndrome],Progressive osseous heteroplasia,"[Familial ectopic ossification, POH]","Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.",[166350],,,,,Progressive osseous heteroplasia,TRUE,FALSE,Active +GARD:10900,Active,Orphanet,ORPHA:26106,Disorder,[Disease],Hereditary diffuse gastric cancer,"[FDGC, Familial diffuse cancer of stomach, Familial diffuse gastric cancer, HDGC, Hereditary diffuse cancer of stomach, Hereditary diffuse gastric adenocarcinoma]","Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.",[137215],,,,,Hereditary diffuse gastric cancer,TRUE,FALSE,Active +GARD:10901,Legacy,GARD,,,,,,,,,,,,Aquagenic urticaria,TRUE,FALSE,Active +GARD:10902,Active,Orphanet,ORPHA:263440,Group of disorders,[Clinical group],Neuroacanthocytosis,,Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.,,,,,,Neuroacanthocytosis,TRUE,FALSE,Active +GARD:10903,Active,Orphanet,ORPHA:1293,Group of disorders,[Clinical group],Brachyolmia,,"Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.",,,,,,Brachyolmia,TRUE,FALSE,Active +GARD:10904,Legacy,GARD,,,,,,,,,,,,Pityriasis rotunda,TRUE,FALSE,Active +GARD:10905,Active,Orphanet,ORPHA:1775,Disorder,[Disease],Dyskeratosis congenita,"[DC, DKC, Zinsser-Engman-Cole syndrome]","A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.","[613988, 127550, 615190, 613989, 305000, 613987, 224230, 613990, 616353]",,,,,Dyskeratosis congenita,TRUE,FALSE,Active +GARD:10906,Active,Orphanet,ORPHA:189439,Disorder,[Disease],Primary pigmented nodular adrenocortical disease,"[PPNAD, Primary pigmented nodular adrenal dysplasia]",Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).,"[610489, 610475, 614190, 615830]",,,,,Primary pigmented nodular adrenocortical disease,TRUE,FALSE,Active +GARD:10907,Active,Orphanet,ORPHA:317476,Disorder,[Disease],"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia","[CID due to MAGT1 deficiency, Combined immunodeficiency due to MAGT1 deficiency, XMEN]","X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.",[300853],,,,,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",TRUE,FALSE,Active +GARD:10908,Legacy,GARD,,,,,,,,,,,,Congenital extrahepatic portosystemic shunt,TRUE,FALSE,Active +GARD:10909,Active,Orphanet,ORPHA:99000,Disorder,[Disease],Adult-onset foveomacular vitelliform dystrophy,"[AOFMD, AVMD, Adult-onset foveomacular dystrophy, Adult-onset foveomacular dystrophy with choroidal neovascularization, Adult-onset vitelliform macular dystrophy, Gass disease, Pseudo-Best disease, Pseudo-vitelliform macular dystrophy]","A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.","[608161, 153840, 616151, 616152]",,,,,Adult-onset vitelliform macular dystrophy,TRUE,FALSE,Active +GARD:1091,Legacy,GARD,,,,,,,,,,,,Squamous cell carcinoma,FALSE,FALSE,Active +GARD:10910,Active,Orphanet,ORPHA:57196,Disorder,[Disease],Medial condensing osteitis of the clavicle,[Osteitis condensans of the clavicle],"A rare bone disease characterized by benign, usually unilateral, sclerosis of the inferomedial third of the clavicle. Patients present with localized swelling and persistent pain. Typical radiographic findings are expansion of the medial end of the clavicle with increased radio-density and signs of bone remodeling.",,,,,,Condensing osteitis of the clavicle,TRUE,FALSE,Active +GARD:10911,Active,Orphanet,ORPHA:103919,Group of disorders,[Clinical group],Autoimmune pancreatitis,[AIP],"A rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.",,,,,,Autoimmune pancreatitis,TRUE,FALSE,Active +GARD:10912,Legacy,GARD,,,,,,,,,,,,Fournier gangrene,TRUE,FALSE,Active +GARD:10913,Active,Orphanet,ORPHA:381,Disorder,[Disease],Griscelli syndrome,"[Chédiak-Higashi-like syndrome, Griscelli-Pruniéras syndrome, Partial albinism-immunodeficiency syndrome]","Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3).","[609227, 607624, 214450]",,,,,Griscelli syndrome,TRUE,FALSE,Active +GARD:10914,Active,Orphanet,ORPHA:86820,Disorder,[Disease],Familial avascular necrosis of femoral head,[Familial osteonecrosis of the femoral head],"Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.","[608805, 617383]",,,,,Familial avascular necrosis of the femoral head,TRUE,FALSE,Active +GARD:10915,Active,Orphanet,ORPHA:2442,Group of disorders,[Clinical group],X-linked lymphoproliferative disease,"[Duncan disease, Purtilo syndrome, XLP]",,"[308240, 300635]",,,,,X-linked lymphoproliferative syndrome,TRUE,FALSE,Active +GARD:10916,Active,Orphanet,ORPHA:538934,Disorder,[Disease],X-linked lymphoproliferative disease due to XIAP deficiency,"[X-linked lymphoproliferative syndrome type 2, XIAP deficiency syndrome, XLP2]","A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifestating with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells.",[300635],,,,,X-linked lymphoproliferative syndrome 2,TRUE,FALSE,Active +GARD:10917,Active,Orphanet,ORPHA:139441,Disorder,[Disease],Hypomyelination with atrophy of basal ganglia and cerebellum,[H-ABC],"A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.","[617899, 612438]",,,,,Hypomyelination with atrophy of basal ganglia and cerebellum,TRUE,FALSE,Active +GARD:10918,Legacy,GARD,,,,,,,,,,,,Idiopathic spinal cord herniation,TRUE,FALSE,Active +GARD:10919,Active,Orphanet,ORPHA:269229,Disorder,[Morphological anomaly],Pontine tegmental cap dysplasia,[PTCD],"Pontine tegmental cap dysplasia is a rare, central nervous system malformation characterized by specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported.",[614688],,,,,Pontine tegmental cap dysplasia,TRUE,FALSE,Active +GARD:10920,Legacy,GARD,,,,,,,,,,,,Localized hypertrophic neuropathy,TRUE,FALSE,Active +GARD:10921,Active,Orphanet,ORPHA:100003,Disorder,[Disease],Intraneural perineurioma,,"Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare.",,,,,,Intraneural perineurioma,TRUE,FALSE,Active +GARD:10922,Active,Orphanet,ORPHA:261534,Disorder,[Malformation syndrome],"49,XXXYY syndrome",,"49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.",,,,,,"49, XXXYY syndrome",TRUE,FALSE,Active +GARD:10923,Active,Orphanet,ORPHA:308166,Group of disorders,[Clinical group],Erythrokeratoderma variabilis progressiva,,"Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP.",,,,,,Erythrokeratodermia variabilis et progressiva,TRUE,FALSE,Active +GARD:10924,Active,Orphanet,ORPHA:139411,Disorder,[Disease],Carney triad,,"A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.",[604287],,,,,Carney triad,TRUE,FALSE,Active +GARD:10925,Active,Orphanet,ORPHA:83483,Disorder,[Disease],La Crosse encephalitis,[Californian encephalitis],"An acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.",,,,,,La Crosse encephalitis,TRUE,FALSE,Active +GARD:10926,Legacy,GARD,,,,,,,,,,,,Pulmonary hyalinizing granuloma,TRUE,FALSE,Active +GARD:10927,Active,Orphanet,ORPHA:208650,Group of disorders,[Clinical group],Cryopyrin-associated periodic syndrome,"[CAPS, Cryopyrinopathy, NLRP3-associated systemic autoinflammatory disease]","Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms).",,,,,,Cryopyrin-associated periodic syndrome,TRUE,FALSE,Active +GARD:10928,Legacy,GARD,,,,,,,,,,,,Progressive bulbar palsy,TRUE,FALSE,Active +GARD:10929,Active,Orphanet,ORPHA:48372,Subtype of disorder,[Histopathological subtype],Nodular regenerative hyperplasia of the liver,[Non-cirrhotic nodulation],A form of portosinusoidal vascular disease characterized histologically by the absence of cirrhosis and diffuse benign transformation of the hepatic parenchyma into multiple small nodules (typically 1-3 mm).,,,,,,Nodular regenerative hyperplasia,TRUE,FALSE,Active +GARD:1093,Active,Orphanet+OMIM,OMIM:113900,Subtype of disorder,[Disease subtype],"Progressive familial heart block, type ia","[cardiac conduction defect, progressive, heart block, progressive familial, type i, Pfhbia, hereditary bundle branch system defect, bundle branch block, lenegre-lev disease]","Progressive familial heart block type I (PFHBI, PFHB1) is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart block ({4:Brink and Torrington, 1977}; {28:van der Merwe et al., 1986}; {29:van der Merwe et al., 1988}). It is defined on electrocardiogram by evidence of bundle branch disease, i.e., right bundle branch block, left anterior or posterior hemiblock, or complete heart block, with broad QRS complexes. Progression has been shown from a normal electrocardiogram to right bundle branch block and from the latter to complete heart block. These electrocardiographic features differentiate PFHB type I from progressive familial heart block type II (PFHBII, PFHB2; {140400}), in which the onset of complete heart block is associated with narrow complexes. Electrocardiographically the changes represent, respectively, bundle branch disease (PFHB1) and atrioventricular nodal disease with an atrioventricular block and an idionodal escape rhythm (PFHB2). PFHBI is manifested symptomatically when complete heart block supervenes, either with dyspnea, syncopal episodes, or sudden death. Treatment, which is best managed by regular electrocardiographic follow-up, is by the timely implantation of a pacemaker ({5:Brink et al., 1995}).\n\n<Subhead> Genetic Heterogeneity of Progressive Familial Heart Block Type I\n\nProgressive familial heart block type IB (PFHB1B; {604559}) is caused by mutation in the TRPM4 gene ({606936}) on chromosome 19q13.32.",[113900],[871],[Familial progressive cardiac conduction defect],[10005],,Progressive familial heart block type 1A,TRUE,FALSE,Active +GARD:10930,Legacy,GARD,,,,,,,,,,,,Dieulafoy lesion,TRUE,FALSE,Active +GARD:10931,Legacy,GARD,,,,,,,,,,,,Orbital varix,TRUE,FALSE,Active +GARD:10932,Legacy,GARD,,,,,,,,,,,,Ocular neuromyotonia,TRUE,FALSE,Active +GARD:10933,Active,Orphanet+OMIM,OMIM:613402,Subtype of disorder,[Clinical syndrome subtype],"Microcephaly, seizures, and developmental delay","[epileptic encephalopathy, early infantile, 10, Developmental and epileptic encephalopathy 10]","Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients develop refractory seizures in infancy, consistent with a developmental and epileptic encephalopathy (DEE), whereas others have more well-controlled seizures and a more protracted course associated with cerebellar atrophy and peripheral neuropathy ({2:Shen et al., 2010} and {1:Poulton et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[613402],[1934],[Early infantile epileptic encephalopathy],[9255],,"Microcephaly, seizures, and developmental delay",TRUE,FALSE,Active +GARD:10934,Active,Orphanet,ORPHA:228423,Disorder,[Disease],Monocytopenia with susceptibility to infections,"[Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections, Dendritic cell, monocyte, B and NK lymphoid deficiency, MonoMAC, Monocyte-B-natural killer-dendritic cell deficiency syndrome, Monocytopenia and mycobacterial infection syndrome]","Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.",[614172],,,,,"Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency",TRUE,FALSE,Active +GARD:10935,Active,Orphanet,ORPHA:261250,Disorder,[Malformation syndrome],16q24.3 microdeletion syndrome,"[Del(16)(q24.3), Monosomy 16q24.3]","16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.",,,,,,16q24.3 microdeletion syndrome,TRUE,FALSE,Active +GARD:10936,Active,Orphanet,ORPHA:261279,Disorder,[Malformation syndrome],17q23.1q23.2 microdeletion syndrome,"[Del(17)(q23.1q23.2), Monosomy 17q23.1q23.2]","17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.",[613355],,,,,17q23.1q23.2 microdeletion syndrome,TRUE,FALSE,Active +GARD:10937,Active,Orphanet+OMIM,OMIM:613327,Subtype of disorder,[Disease subtype],"Lipodystrophy, congenital generalized, type 4","[lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy, Berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy]","Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy ({608594}) with muscular dystrophy and cardiac conduction anomalies ({2:Hayashi et al., 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 ({608594}).",[613327],[528],[Congenital generalized lipodystrophy],[13388],,Congenital generalized lipodystrophy type 4,TRUE,FALSE,Active +GARD:10938,Active,Orphanet,ORPHA:231736,Disorder,[Malformation syndrome],Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,[MPPC syndrome],"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome is a rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.",,,,,,Microcornea posterior megalolenticonus persistent fetal vasculature coloboma,TRUE,FALSE,Active +GARD:10939,Active,Orphanet,ORPHA:140944,Disorder,[Malformation syndrome],CLOVES syndrome,"[Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome, Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome]","CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.",[612918],,,,,CLOVES syndrome,TRUE,FALSE,Active +GARD:1094,Active,Orphanet,ORPHA:1686,Disorder,[Morphological anomaly],Cardiac diverticulum,,"Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.",,,,,,Cardiac diverticulum,TRUE,FALSE,Active +GARD:10940,Active,Orphanet,ORPHA:88633,Disorder,[Disease],Superior limbic keratoconjunctivitis,"[SLK, Theodore superior limbic keratoconjunctivitis, Theodore syndrome]","A rare disorder of the anterior segment of the eye characterized by unilateral or bilateral, chronic and recurrent inflammation affecting the upper tarsal and bulbar conjunctiva, as well as the superior limbus, manifesting as a papillary reaction on the upper tarsal conjunctiva, thickening and folding of redundant superior bulbar conjunctiva, and superficial punctate epithelial keratitis with or without filament formation near the superior corneal limbus. Middle-aged women are most commonly affected and present with foreign body sensation, frequent blinking, burning sensation, and pruritus, among others.",,,,,,Superior limbic keratoconjunctivitis,TRUE,FALSE,Active +GARD:10941,Active,Orphanet,ORPHA:280886,Group of disorders,[Category],Anterior uveitis,[Iridocyclitis],,,,,,,Anterior uveitis,TRUE,FALSE,Active +GARD:10942,Active,Orphanet,ORPHA:238763,Disorder,[Malformation syndrome],Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,[Megalocornea-spherophakia-secondary glaucoma syndrome],"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.",[251750],,,,,Megalocornea - spherophakia - secondary glaucoma,TRUE,FALSE,Active +GARD:10943,Active,Orphanet,ORPHA:238769,Disorder,[Malformation syndrome],1q44 microdeletion syndrome,"[Del(1)(q44), Monosomy 1q44]","1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.",,,,,,1q44 microdeletion syndrome,TRUE,FALSE,Active +GARD:10944,Active,Orphanet,ORPHA:464443,Disorder,[Disease],COG6-CGD,"[CDG syndrome type IIL, CDG-IIL, CDG2L, Congenital disorder of glycosylation type 2l, Congenital disorder of glycosylation type IIL]","A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles.",[614576],,,,,COG6-CDG (CDG-IIL),TRUE,FALSE,Active +GARD:10945,Active,Orphanet,ORPHA:391677,Disorder,[Malformation syndrome],Short stature-optic atrophy-Pelger-Huët anomaly syndrome,[SOPH syndrome],"A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.",[614800],,,,,Short stature with optic atrophy and Pelger-Huët anomaly syndrome,TRUE,FALSE,Active +GARD:10946,Active,Orphanet,ORPHA:54251,Disorder,[Disease],Corticosteroid-sensitive aseptic abscess syndrome,"[Aseptic abscesses syndrome, Aseptic systemic abscesses, Disseminated aseptic abscesses]",Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.,,,,,,Corticosteroid-sensitive aseptic abscesses,TRUE,FALSE,Active +GARD:10947,Active,Orphanet,ORPHA:178338,Disorder,[Disease],UV-sensitive syndrome,,"A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive.","[614621, 614640, 600630]",,,,,UV sensitive syndrome,TRUE,FALSE,Active +GARD:10948,Active,Orphanet,ORPHA:280379,Disorder,[Disease],Erythropoietic uroporphyria associated with myeloid malignancy,,"A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.",,,,,,Erythropoietic uroporphyria associated with myeloid malignancy,TRUE,FALSE,Active +GARD:10949,Active,Orphanet,ORPHA:73267,Disorder,[Disease],Non-24-hour sleep-wake syndrome,[Hypernychthemeral syndrome],A rare neurological disease which is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.,,,,,,Non 24 hour sleep wake disorder,TRUE,FALSE,Active +GARD:10951,Active,Orphanet,ORPHA:158011,Disorder,[Disease],Necrobiotic xanthogranuloma,,"Necrobiotic xanthogranuloma is a rare, chronic and progressive, non-Langerhans cell histiocytosis disease typically characterized by multiple, indurated, asymptomatic to pruritic, yellow-orange plaques or nodules that tend to ulcerate and are usually located in the periorbital area, trunk and/or extremities. Strong association with paraproteinemia and/or malignant lymphoproliferative disease has been reported.",,,,,,Necrobiotic xanthogranuloma,TRUE,FALSE,Active +GARD:10952,Legacy,GARD,,,,,,,,,,,,Bow hunter's stroke,TRUE,FALSE,Active +GARD:10953,Legacy,GARD,,,,,,,,,,,,MTHFR gene variant,FALSE,FALSE,Active +GARD:10954,Active,Orphanet,ORPHA:6,Disorder,[Disease],3-methylcrotonyl-CoA carboxylase deficiency,"[3-methylcrotonylglycinuria, MCC deficiency, MCCD]",A rare inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.,"[210210, 210200]",,,,,3-methylcrotonyl-CoA carboxylase deficiency,TRUE,FALSE,Active +GARD:10955,Active,Orphanet,ORPHA:648,Disorder,[Malformation syndrome],Noonan syndrome,,"A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood.","[611553, 609942, 618624, 605275, 613224, 613706, 616559, 619087, 615355, 616564, 618499, 163950, 610733]",,,,,Noonan syndrome,TRUE,FALSE,Active +GARD:10956,Active,Orphanet,ORPHA:331223,Group of disorders,[Clinical group],Hyper-IgE syndrome,,,,,,,,Hyper IgE syndrome,TRUE,FALSE,Active +GARD:10957,Active,Orphanet,ORPHA:209981,Disorder,[Disease],IRIDA syndrome,[Iron-refractory iron deficiency anemia],"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.",[206200],,,,,Iron-refractory iron deficiency anemia,TRUE,FALSE,Active +GARD:10958,Active,Orphanet,ORPHA:55,Group of disorders,[Clinical group],Oculocutaneous albinism,[OCA],"A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8.",,,,,,Oculocutaneous albinism,TRUE,FALSE,Active +GARD:10959,Active,Orphanet,ORPHA:314777,Disorder,[Disease],Familial isolated pituitary adenoma,[FIPA],"A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain.",[102200],,,,,Familial isolated pituitary adenoma,TRUE,FALSE,Active +GARD:1096,Active,Orphanet,ORPHA:555877,Disorder,[Morphological anomaly],FLNA-related X-linked myxomatous valvular dysplasia,"[FLNA-related valvular dystrophy, Filamin A-related X-linked myxomatous valvular dysplasia]","A rare genetic cardiac malformation characterized by progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation, and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females.",[314400],,,,,X-linked cardiac valvular dysplasia,TRUE,FALSE,Active +GARD:10960,Legacy,GARD,,,,,,,,,,,,Linear IgA disease,TRUE,FALSE,Active +GARD:10961,Legacy,GARD,,,,,,,,,,,,Collagenous gastritis,TRUE,FALSE,Active +GARD:10962,Active,Orphanet,ORPHA:284227,Disorder,[Clinical syndrome],TEMPI syndrome,[Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome],"TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.",,,,,,TEMPI syndrome,TRUE,FALSE,Active +GARD:10963,Legacy,GARD,,,,,,,,,,,,Pyogenic granuloma,FALSE,FALSE,Active +GARD:10964,Active,Orphanet,ORPHA:99921,Subtype of disorder,[Clinical subtype],Chronic graft versus host disease,,,,,,,,Chronic graft versus host disease,TRUE,FALSE,Active +GARD:10965,Active,Orphanet,ORPHA:313855,Disorder,[Disease],FGFR2-related bent bone dysplasia,[Perinatal lethal bent bone dysplasia],"FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated.",[614592],,,,,Bent bone dysplasia syndrome,TRUE,FALSE,Active +GARD:10966,Active,Orphanet,ORPHA:85414,Disorder,[Disease],Systemic-onset juvenile idiopathic arthritis,"[Still disease, Systemic-onset JIA]","A rare pediatric rheumatological disease characterized by the variable occurrence of chronic arthritis, intermittently high spiking fever, maculopapular rash during fever episodes, hepatomegaly and/or splenomegaly, lymphadenopathy, and serositis.","[604302, 618795]",,,,,Systemic onset juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:10967,Legacy,GARD,,,,,,,,,,,,Polyarticular onset juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:10968,Legacy,GARD,,,,,,,,,,,,Pauciarticular onset juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:10969,Active,Orphanet,ORPHA:85438,Disorder,[Disease],Enthesitis-related juvenile idiopathic arthritis,"[Enthesitis-related JIA, Juvenile ERA]","A rare inflammatory rheumatic disease in a child younger than 16 years characterized by arthritis and/or enthesitis and/or acute anterior uveitis. The most commonly affected joints at diagnosis are the knees, ankles, and hips. The small joints of the feet and toes are also often involved.",,,,,,Enthesitis-related juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:1097,Legacy,GARD,,,,,,,,,,,,Cardiofacial syndrome short limbs,TRUE,FALSE,Active +GARD:10970,Active,Orphanet,ORPHA:85436,Disorder,[Disease],Psoriasis-related juvenile idiopathic arthritis,"[Juvenile psoriatic arthritis, Psoriasis-related JIA]","A rare pediatric inflammatory rheumatic disease characterized by the presence of arthritis accompanied by either psoriasis or at least two of the following supporting features; presence of nail pitting, onycholysis, dactylitis, or a family history of psoriasis in a first degree relative. Patients are younger than 16 years of age and the disease lasts longer than 6 weeks.",,,,,,Psoriatic juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:10971,Legacy,GARD,,,,,,,,,,,,"Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy",TRUE,FALSE,Retired +GARD:10972,Active,Orphanet,ORPHA:1597,Disorder,[Malformation syndrome],Distal monosomy 17q,"[Distal 17q deletion, Monosomy 17qter, Telomeric deletion 17q]","A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.",,,,,,Chromosome 17q deletion,TRUE,FALSE,Active +GARD:10973,Active,Orphanet,ORPHA:79262,Disorder,[Disease],Adult neuronal ceroid lipofuscinosis,"[ANCL, Adult NCL, Kufs disease]","A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.","[610127, 615362, 204300, 601780, 256730, 614706, 162350]",,,,,Adult neuronal ceroid lipofuscinosis,TRUE,FALSE,Active +GARD:10974,Active,Orphanet+OMIM,OMIM:609634,Subtype of disorder,[Disease subtype],"Migraine, familial hemiplegic, 3",,"Familial hemiplegic migraine-3 (FHM3) is a severe subtype of migraine with aura characterized by some degree of hemiparesis during the attacks ({1:Dichgans et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FHM, see FHM1 ({141500}).",[609634],[569],[Familial or sporadic hemiplegic migraine],[10768],,Familial hemiplegic migraine type 3,TRUE,FALSE,Retired +GARD:10975,Legacy,GARD,,,,,,,,,,,,Familial hemiplegic migraine,TRUE,FALSE,Active +GARD:10976,Legacy,GARD,,,,,,,,,,,,Ulcerative proctitis,TRUE,FALSE,Active +GARD:10977,Active,Orphanet,ORPHA:98523,Group of disorders,[Clinical group],Non-syndromic pontocerebellar hypoplasia,"[PCH, Pontoneocerebellar atrophy, Pontoneocerebellar hypoplasia]","A rare group of neurodegenerative disorders with a prenatal onset characterized by hypoplasia and/or atrophy of the cerebellum and pons. Involvement of supratentorial structures is variable. Multiple forms have been described based on severity, age of onset and clinical presentation.",,,,,,Pontocerebellar hypoplasia,TRUE,FALSE,Active +GARD:10978,Legacy,GARD,,,,,,,,,,,,Chromosome Xp deletion,TRUE,FALSE,Active +GARD:10979,Legacy,GARD,,,,,,,,,,,,Lymphangiomatosis,TRUE,FALSE,Active +GARD:10980,Active,Orphanet,ORPHA:227982,Disorder,[Disease],Autoimmune polyendocrinopathy type 3,"[APS type 3, APS3, Autoimmune polyendocrine syndrome type 3, Autoimmune polyglandular syndrome type 3]","A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.",,,,,,Autoimmune polyglandular syndrome type 3,TRUE,FALSE,Active +GARD:10981,Active,Orphanet,ORPHA:313808,Disorder,[Disease],Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia,"[ALSP, Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, Autosomal dominant leukoencephalopathy with neuroaxonal spheroids, FPSG, Familial dementia, Neumann type, Familial progressive subcortical gliosis, GPSC, HDLS, Hereditary diffuse leukoencephalopathy with spheroids, POLD, Pigmentary orthochromatic leukodystrophy, Subcortical gliosis of Neumann]","Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.",[221820],,,,,Hereditary diffuse leukoencephalopathy with spheroids,TRUE,FALSE,Active +GARD:10982,Legacy,GARD,,,,,,,,,,,,Isochromosome Yp,TRUE,FALSE,Active +GARD:10983,Active,Orphanet,ORPHA:79152,Disorder,[Disease],Disseminated superficial actinic porokeratosis,,"A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.","[614714, 616631, 607728, 175900, 612353, 616063, 612293]",,,,,Disseminated superficial actinic porokeratosis,TRUE,FALSE,Active +GARD:10984,Active,Orphanet,ORPHA:319552,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,"[MSMD due to complete IL12RB1 deficiency, MSMD due to complete interleukin 12 receptor beta 1 deficiency, Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency]",Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.,[614891],,,,,IL12RB1 deficiency,TRUE,FALSE,Active +GARD:10985,Active,Orphanet,ORPHA:54260,Disorder,[Disease],Left ventricular noncompaction,"[LVNC, Left ventricular hypertrabeculation, Spongy myocardium]","A rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.","[615396, 613426, 615092, 609470, 613424, 604169, 601493, 615373, 601494, 611878]",,,,,Left ventricular noncompaction,TRUE,FALSE,Active +GARD:10986,Active,Orphanet,ORPHA:33111,Disorder,[Disease],Granulomatous slack skin,,"Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.",,,,,,Granulomatous slack skin disease,TRUE,FALSE,Active +GARD:10987,Legacy,GARD,,,,,,,,,,,,Cauda equina syndrome,TRUE,FALSE,Active +GARD:10988,Legacy,GARD,,,,,,,,,,,,JMP syndrome,TRUE,FALSE,Active +GARD:10989,Active,Orphanet,ORPHA:363649,Disorder,[Disease],Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,"[MDP syndrome, MDPL syndrome, Mandibular hypoplasia-hearing loss-progeroid syndrome]","A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglycemia and diabetes mellitus/insulin resistance.",[615381],,,,,"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome",TRUE,FALSE,Active +GARD:1099,Legacy,GARD,,,,,,,,,,,,Cardiomelic syndrome Stratton Koehler type,TRUE,FALSE,Active +GARD:10990,Legacy,GARD,,,,,,,,,,,,Chromosome 15q25.2 microdeletion,TRUE,FALSE,Active +GARD:10991,Active,Orphanet,ORPHA:254346,Disorder,[Malformation syndrome],19p13.12 microdeletion syndrome,"[Del(19)(p13.12), Monosomy 19p13.12]","19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.",,,,,,19p13.12 microdeletion syndrome,TRUE,FALSE,Active +GARD:10992,Active,Orphanet,ORPHA:254343,Disorder,[Disease],Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,"[Autosomal recessive spastic ataxia type 4, SPAX4]","A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.",[613672],,,,,Autosomal recessive spastic ataxia 4,TRUE,FALSE,Active +GARD:10993,Legacy,GARD,,,,,,,,,,,,Superior semicircular canal dehiscence syndrome,TRUE,FALSE,Active +GARD:10994,Active,Orphanet,ORPHA:85201,Disorder,[Malformation syndrome],Genitopatellar syndrome,[Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome],"Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.",[606170],,,,,Genitopatellar syndrome,TRUE,FALSE,Active +GARD:10995,Active,Orphanet,ORPHA:402364,Disorder,[Malformation syndrome],Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,,"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.",[613668],,,,,"Postnatal progressive microcephaly, seizures, and brain atrophy",TRUE,FALSE,Active +GARD:10996,Active,Orphanet,ORPHA:319171,Disorder,[Malformation syndrome],Distal 17p13.1 microdeletion syndrome,[Distal del(17)(p13.1)],"Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.",,,,,,Chromosome 17p13.1 deletion syndrome,TRUE,FALSE,Active +GARD:10997,Active,Orphanet,ORPHA:284984,Disorder,[Disease],Aneurysm-osteoarthritis syndrome,,"A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.",[613795],,,,,Loeys-Dietz syndrome type 3,TRUE,FALSE,Active +GARD:10998,Active,Orphanet,ORPHA:228402,Disorder,[Malformation syndrome],2q23.1 microdeletion syndrome,"[Del(2)(q23.1), Monosomy 2q23.1, Pseudo-Angelman syndrome]","The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.",[156200],,,,,2q23.1 microdeletion syndrome,TRUE,FALSE,Active +GARD:10999,Active,Orphanet,ORPHA:280763,Disorder,[Disease],Severe intellectual disability and progressive spastic paraplegia,[AP4 deficiency syndrome],"Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.","[612936, 614066, 614067, 613744]",,,,,Spastic paraplegia 51,TRUE,FALSE,Active +GARD:11,Active,Orphanet,ORPHA:2131,Disorder,[Disease],Alternating hemiplegia of childhood,[AHC],"A rare, genetic, neurodevelopmental disorder characterized by early-onset of recurrent, transient episodes of hemiplegia (including quadriplegia), which typically disappear upon sleep.","[614820, 104290]",,,,,Alternating hemiplegia of childhood,TRUE,FALSE,Active +GARD:1100,Active,Orphanet,ORPHA:500,Disorder,[Malformation syndrome],Noonan syndrome with multiple lentigines,"[Cardiomyopathic lentiginosis, Familial multiple lentigines syndrome, LEOPARD syndrome]","A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.","[611554, 151100, 613707]",,,,,LEOPARD syndrome,TRUE,FALSE,Active +GARD:11000,Active,Orphanet,ORPHA:319651,Disorder,[Disease],Constitutional megaloblastic anemia with severe neurologic disease,"[DHFR deficiency, Dihydrofolate reductase deficiency]",,[613839],,,,,Megaloblastic anemia due to dihydrofolate reductase deficiency,TRUE,FALSE,Active +GARD:11001,Legacy,GARD,,,,,,,,,,,,Slipped capital femoral epiphysis,FALSE,FALSE,Active +GARD:11002,Legacy,GARD,,,,,,,,,,,,Chromosome Xq deletion,TRUE,FALSE,Active +GARD:11003,Active,Orphanet,ORPHA:401996,Disorder,[Disease],Karyomegalic interstitial nephritis,"[KIN, Systemic karyomegaly]","Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.",[614817],,,,,Karyomegalic interstitial nephritis,TRUE,FALSE,Active +GARD:11004,Active,Orphanet,ORPHA:79150,Disorder,[Disease],Linear and whorled nevoid hypermelanosis,[LWNH],"A rare hyperpigmentation of the skin disease characterized by the congenital to infantile-onset of bilateral, diffuse (occasionally localized), reticulate (swirls and streaks), macular hyperpigmentation following the lines of Blaschko, typically involving the trunk, limbs, head and neck (but sparing palms, soles and mucosa), without preceding inflammation, blistering or atrophy. Occasionally, extracutaneous abnormalities, including autism, seizures, cardiac defects, skeletal abnormalities and developmental delay, may be associated. Histologically, basal and/or suprabasal melanosis, without pigment incontinence, is observed.",[614323],,,,,Linear and whorled nevoid hypermelanosis,TRUE,FALSE,Active +GARD:11005,Active,Orphanet,ORPHA:163703,Disorder,[Disease],Febrile infection-related epilepsy syndrome,"[AERRPS, Acute encephalitis with refractory repetitive partial seizures, Acute non-herpetic encephalitis with severe refractory status epilepticus, DESC syndrome, Devastating epileptic encephalopathy in school-aged children, FIRES, Fever-induced refractory epileptic encephalopathy in school-aged children, Idiopathic catastrophic epileptic encephalopathy, Severe refractory status epilepticus owing to presumed encephalitis]","A rare, potentially fatal , epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.",,,,,,Febrile infection-related epilepsy syndrome,TRUE,FALSE,Active +GARD:11006,Active,Orphanet,ORPHA:300501,Disorder,[Malformation syndrome],Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,,"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.",,,,,,Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,TRUE,FALSE,Active +GARD:11007,Active,Orphanet,ORPHA:300504,Disorder,[Disease],Onychocytic matricoma,[Acanthoma of the nail matrix],"Onychocytic matricoma is a rare, benign, nail tumor originating in the nail matrix characterized by localized pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumor with endokeratinization in the deep portion and concentrically arranged nests of prekeratogenous and keratogenous cells.",,,,,,Onychocytic matricoma,TRUE,FALSE,Active +GARD:11008,Active,Orphanet,ORPHA:280576,Disorder,[Malformation syndrome],Nestor-Guillermo progeria syndrome,[NGPS],"Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.",[614008],,,,,Nestor-guillermo progeria syndrome,TRUE,FALSE,Active +GARD:11009,Active,Orphanet,ORPHA:280586,Disorder,[Malformation syndrome],"Chondrodysplasia with joint dislocations, gPAPP type",[gPAPP deficiency],"Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.",[614078],,,,,"Chondrodysplasia with joint dislocations, GPAPP type",TRUE,FALSE,Active +GARD:11010,Active,Orphanet,ORPHA:280598,Disorder,[Disease],Hereditary sensorimotor neuropathy with hyperelastic skin,,"Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated.",[608895],,,,,Hereditary sensorimotor neuropathy with hyperelastic skin,TRUE,FALSE,Active +GARD:11011,Active,Orphanet,ORPHA:641,Disorder,[Disease],Multifocal motor neuropathy,"[MMN, MMNCB, Multifocal motor neuropathy with conduction block]","Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.",,,,,,Multifocal motor neuropathy,TRUE,FALSE,Active +GARD:11012,Legacy,GARD,,,,,,,,,,,,Myelodysplastic syndrome with single lineage dysplasia,TRUE,FALSE,Active +GARD:1102,Active,Orphanet,ORPHA:1345,Disorder,[Disease],Cardiomyopathy-cataract-hip spine disease syndrome,[Krasnow-Qazi syndrome],"A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.",,,,,,Cardiomyopathy cataract hip spine disease,TRUE,FALSE,Active +GARD:1103,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy diabetes deafness,TRUE,FALSE,Active +GARD:1104,Active,Orphanet+OMIM,OMIM:115200,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1a","[Cardiomyopathy, dilated, with conduction defect 1, cardiomyopathy, familial idiopathic, cardiomyopathy, idiopathic dilated, cardiomyopathy, congestive]","Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by {26:Levitas et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Dilated Cardiomyopathy\n\nMutations in many other genes have been found to cause different forms of autosomal dominant dilated cardiomyopathy. These include CMD1C ({601493}), with or without left ventricular noncompaction, caused by mutation in the LDB3 gene ({605906}) on 10q23; CMD1D ({601494}), caused by mutation in the TNNT2 gene ({191045}) on 1q32; CMD1E ({601154}), caused by mutation in the SCN5A gene ({600163}) on 3p22; CMD1G ({604145}), caused by mutation in the TTN gene ({188840}) on 2q31; CMD1I ({604765}), caused by mutation in the DES gene ({125660}) on 2q35; CMD1J ({605362}), caused by mutation in the EYA4 gene ({603550}) on 6q23; CMD1L ({606685}), caused by mutation in the SGCD gene ({601411}) on 5q33; CMD1M ({607482}), caused by mutation in the CSRP3 gene ({600824}) on 11p15; CMD1O ({608569}), caused by mutation in the ABCC9 gene ({601439}) on 12p12; CMD1P ({609909}), caused by mutation in the PLN gene ({172405}) on 6q22; CMD1R ({613424}), caused by mutation in the ACTC gene ({102540}) on 15q14; CMD1S ({613426}), caused by mutation in the MYH7 gene ({160760}) on 14q12; CMD1U ({613694}), caused by mutation in the PSEN1 gene ({104311}) on 14q24; CMD1V ({613697}), caused by mutation in the PSEN2 gene ({600759}) on 1q42; CMD1W ({611407}), caused by mutation in the gene encoding metavinculin (VCL; {193065}) on 10q22; CMD1X ({611615}), caused by mutation in the gene encoding fukutin (FKTN; {607440}) on 9q31; CMD1Y ({611878}), caused by mutation in the TPM1 gene ({191010}) on 15q22; CMD1Z ({611879}), caused by mutation in the TNNC1 gene ({191040}) on 3p21; CMD1AA ({612158}), caused by mutation in the ACTN2 gene ({102573}) on 1q43; CMD1BB ({612877}), caused by mutation in the DSG2 gene ({125671}) on 18q12; CMD1CC ({613122}), caused by mutation in the NEXN gene ({613121}) on 1p31; CMD1DD ({613172}), caused by mutation in the RBM20 gene ({613171}) on 10q25; CMD1EE ({613252}), caused by mutation in the MYH6 gene ({160710}) on 14q12; CMD1FF ({613286}), caused by mutation in the TNNI3 gene ({191044}) on 19q13; CMD1GG ({613642}), caused by mutation in the SDHA gene ({600857}) on 5p15; and CMD1HH ({613881}), caused by mutation in the BAG3 gene ({603883}) on 10q26; CMD1II ({615184}), caused by mutation in the CRYAB gene ({123590}) on 6q21; CMD1JJ ({615235}), caused by mutation in the LAMA4 gene ({600133}) on 6q21; CMD1KK ({615248}), caused by mutation in the MYPN gene ({608517}) on 10q21; CMD1LL ({615373}), caused by mutation in the PRDM16 gene ({605557}) on 1p36; CMD1MM (see {615396}), caused by mutation in the MYBPC3 gene ({600958}) on 11p11; and CMD1NN ({615916}), caused by mutation in the RAF1 gene ({164760}) on 3p25.\n\nSeveral additional loci for autosomal dominant familial dilated cardiomyopathy have been mapped: CMD1B ({600884}) on 9q13; CMD1H ({604288}) on 2q14-q22; CMD1K ({605582}) on 6q12-q16; and CMD1Q ({609915}) on 7q22.3-q31.1.\n\nAutosomal recessive CMD includes CMD2A ({611880}), caused by mutation in the TNNI3 gene ({191044}) on 19q13; CMD2B ({614672}), caused by mutation in the GATAD1 gene ({614518}) on 7q21; CMD2C ({618189}), caused by mutation in the PPCS gene ({609853}) on 1p34; CMD2D ({619371}), caused by mutation in the RPL3L gene ({617416}) on 16p13; CMD2E ({619492}), caused by mutation in the JPH2 gene ({605267}) on chromosome 20q13; and CMD2F ({619747}), caused by mutation in the BAG5 gene ({603885}) on chromosome 14q32.\n\nAn X-linked form of CMD (CMD3B; {302045}) is caused by mutation in the DMD gene ({300377}). An X-linked form previously designated CMD3A was found to be the same as Barth syndrome ({302060}).\n\n<Subhead> Reclassified CMD Symbols\n\nThe symbol CMD1F was formerly used for a disorder later found to be the same as desmin-related myopathy ({601419}).\n\nThe symbol CMD1N (see {607487}) was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TCAP gene ({604488.0003}); this variant has subsequently been reclassified as a variant of unknown significance.\n\nThe symbol CMD1T was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TMPO gene ({188380.0001}); this variant has subsequently been reclassified as a variant of unknown significance.",[115200],[154],[Familial isolated dilated cardiomyopathy],[2905],,Dilated cardiomyopathy 1A,TRUE,FALSE,Active +GARD:1107,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy due to anthracyclines,TRUE,FALSE,Active +GARD:1108,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy and deafness due to tRNA lysine gene mutation,TRUE,FALSE,Active +GARD:1109,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy hypogonadism metabolic anomalies,TRUE,FALSE,Active +GARD:111,Active,Orphanet,ORPHA:60032,Disorder,[Disease],Recurrent respiratory papillomatosis,,"Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory tract infections, pneumonia, dysphagia, stridor, and/or failure to thrive.",,,,,,Recurrent respiratory papillomatosis,TRUE,FALSE,Active +GARD:1110,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy spherocytosis,TRUE,FALSE,Active +GARD:1113,Legacy,GARD,,,,,,,,,,,,Fatal infantile encephalomyopathy,TRUE,FALSE,Active +GARD:1117,Legacy,GARD,,,,,,,,,,,,Carnevale Hernandez Castillo syndrome,TRUE,FALSE,Active +GARD:1118,Active,Orphanet,ORPHA:293843,Disorder,[Malformation syndrome],3MC syndrome,"[Craniofacial-ulnar-renal syndrome, Malpuech-Michels-Mingarelli-Carnevale syndrome]","A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.","[248340, 257920, 265050]",,,,,3MC syndrome,TRUE,FALSE,Active +GARD:1119,Active,Orphanet,ORPHA:1359,Disorder,[Disease],Carney complex,"[Carney syndrome, Myxoma-spotty pigmentation-endocrine overactivity syndrome]","Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.","[160980, 605244]",,,,,Carney complex,TRUE,FALSE,Active +GARD:112,Active,Orphanet,ORPHA:70587,Disorder,[Disease],Infant acute respiratory distress syndrome,"[Hyaline membrane disease, Infant ARDS, Infant respiratory distress syndrome, Neonatal respiratory distress syndrome]","Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.",[267450],,,,,"Respiratory distress syndrome, infant",TRUE,FALSE,Active +GARD:1120,Active,Orphanet,ORPHA:156,Disorder,[Disease],Carnitine palmitoyl transferase 1A deficiency,"[CPT1A deficiency, Carnitine palmitoyl transferase IA deficiency, Hepatic carnitine palmitoyl transferase 1 deficiency, Hepatic carnitine palmitoyl transferase I deficiency, L-CPT1 deficiency, L-CPTI deficiency]","Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.",[255120],,,,,Carnitine palmitoyl transferase 1A deficiency,TRUE,FALSE,Active +GARD:1121,Active,Orphanet,ORPHA:157,Disorder,[Disease],Carnitine palmitoyltransferase II deficiency,"[CPT2, CPTII, Carnitine palmitoyltransferase deficiency type 2]","Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).","[608836, 255110, 600649]",,,,,Carnitine palmitoyltransferase 2 deficiency,TRUE,FALSE,Active +GARD:1123,Active,Orphanet,ORPHA:159,Disorder,[Disease],Carnitine-acylcarnitine translocase deficiency,[CACT deficiency],"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.",[212138],,,,,Carnitine-acylcarnitine translocase deficiency,TRUE,FALSE,Active +GARD:1125,Legacy,GARD,,,,,,,,,,,,cataract glaucoma,TRUE,FALSE,Retired +GARD:1128,Active,Orphanet,ORPHA:2767,Disorder,[Malformation syndrome],Carpotarsal osteochondromatosis,[Maroteaux-Le Merrer-Bensahel syndrome],Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.,[127820],,,,,Carpotarsal osteochondromatosis,TRUE,FALSE,Active +GARD:1129,Legacy,GARD,,,,,,,,,,,,Carpo tarsal osteolysis recessive,TRUE,FALSE,Active +GARD:113,Legacy,GARD,,,,,,,,,,,,"Retinopathy, arteriosclerotic",TRUE,FALSE,Active +GARD:1130,Active,Orphanet,ORPHA:2902,Disorder,[Disease],Idiopathic chronic eosinophilic pneumonia,[Chronic eosinophilic pneumonia],"A rare, severe, interstitial lung disease characterized by insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss) and a history of asthma (up to half of patients). Eosinophilia is present in most cases, usually in excess of 1000 cells/mm3.",,,,,,Chronic eosinophilic pneumonia,TRUE,FALSE,Active +GARD:1132,Legacy,GARD,,,,,,,,,,,,Cartwright Nelson Fryns syndrome,TRUE,FALSE,Active +GARD:1133,Active,Orphanet,ORPHA:85288,Disorder,[Malformation syndrome],"X-linked intellectual disability, Stocco Dos Santos type",,"X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.",[300434],,,,,Stocco dos Santos syndrome,TRUE,FALSE,Active +GARD:1139,Active,Orphanet,ORPHA:1366,Disorder,[Disease],Autosomal recessive palmoplantar keratoderma and congenital alopecia,"[Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia, Cataract-alopecia-sclerodactyly syndrome, PPK-CA, Wallis type, Palmoplantar keratoderma and congenital alopecia, Wallis type]","Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.",[212360],,,,,Autosomal recessive palmoplantar keratoderma and congenital alopecia,TRUE,FALSE,Active +GARD:114,Active,Orphanet,ORPHA:99014,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 5,"[CMT5X, CMTX5]","A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy.",[311070],,,,,X-linked Charcot-Marie-Tooth disease type 5,TRUE,FALSE,Active +GARD:1140,Active,Orphanet,ORPHA:98988,Subtype of disorder,[Clinical subtype],Early-onset anterior polar cataract,[Early-onset anterior subcapsular cataract],,[601202],,,,,Early-onset anterior polar cataract,TRUE,FALSE,Active +GARD:1141,Active,Orphanet,ORPHA:1368,Disorder,[Disease],Cataract-ataxia-deafness syndrome,[Cataract-ataxia-hearing loss syndrome],"A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.",[212710],,,,,Cataract ataxia deafness,TRUE,FALSE,Active +GARD:1142,Active,Orphanet,ORPHA:1369,Disorder,[Disease],Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,[Sengers syndrome],"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.","[212350, 615418]",,,,,Sengers syndrome,TRUE,FALSE,Active +GARD:1143,Legacy,GARD,,,,,,,,,,,,Cataract congenital autosomal dominant,TRUE,FALSE,Active +GARD:1144,Active,Orphanet+OMIM,OMIM:115700,Subtype of disorder,[Malformation syndrome subtype],"Cataract 4, multiple types","[Cataract 4, multiple types, with or without microcornea, cataract, punctate, progressive juvenile-onset, cataract, congenital, cerulean type, 3, cataract, nonnuclear polymorphic congenital, cataract, crystalline aculeiform]","Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. Some patients also exhibit microcornea.\n\nBecause multiple types of cataract are caused by mutation in the CRYGD gene, some of which display intrafamilial variability, several earlier distinct cataract entries in OMIM have been included here.",[115700],[1377],[Cataract-microcornea syndrome],[1155],,Cataract congenital dominant non nuclear,TRUE,FALSE,Active +GARD:1145,Legacy,GARD,,,,,,,,,,,,Cataract and congenital ichthyosis,TRUE,FALSE,Active +GARD:1146,Legacy,GARD,,,,,,,,,,,,Cataract congenital Volkmann type,TRUE,FALSE,Active +GARD:115,Legacy,GARD,,,,,,,,,,,,Sakati syndrome,TRUE,FALSE,Retired +GARD:1150,Legacy,GARD,,,,,,,,,,,,Cataract Hutterite type,TRUE,FALSE,Active +GARD:1152,Legacy,GARD,,,,,,,,,,,,Cataract - hypertrichosis - intellectual disability,TRUE,FALSE,Retired +GARD:1154,Legacy,GARD,,,,,,,,,,,,Cataract-mental retardation-hypogonadism syndrome,TRUE,FALSE,Retired +GARD:1155,Active,Orphanet,ORPHA:1377,Disorder,[Malformation syndrome],Cataract-microcornea syndrome,,Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.,"[116200, 601547, 604219, 115700]",,,,,Cataract microcornea syndrome,TRUE,FALSE,Active +GARD:1157,Legacy,GARD,,,,,,,,,,,,Cataract microphthalmia septal defect,TRUE,FALSE,Retired +GARD:1158,Legacy,GARD,,,,,,,,,,,,Cataract skeletal anomalies,TRUE,FALSE,Active +GARD:1159,Active,Orphanet,ORPHA:98994,Subtype of disorder,[Clinical subtype],Total early-onset cataract,,,"[601547, 616509, 618415]",,,,,"Cataract, total congenital",TRUE,FALSE,Active +GARD:116,Active,Orphanet,ORPHA:79279,Subtype of disorder,[Clinical subtype],Alpha-N-acetylgalactosaminidase deficiency type 1,"[NAGA deficiency type 1, Schindler disease type 1]",A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.,[609241],,,,,Schindler disease type 1,TRUE,FALSE,Active +GARD:1160,Active,Orphanet,ORPHA:162,Disorder,[Malformation syndrome],Cataract-glaucoma syndrome,,Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.,,,,,,Cataract-glaucoma,TRUE,FALSE,Active +GARD:1163,Active,Orphanet,ORPHA:1123,Disorder,[Malformation syndrome],Caudal appendage-deafness syndrome,"[Caudal appendage-hearing loss syndrome, Lynch-Lee-Murday syndrome]","Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.",,,,,,Caudal appendage deafness,TRUE,FALSE,Active +GARD:1164,Active,Orphanet,ORPHA:1756,Disorder,[Malformation syndrome],Caudal duplication,"[Dipygus, Split notochord syndrome]",Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.,[607864],,,,,Caudal duplication,TRUE,FALSE,Active +GARD:1167,Active,Orphanet,ORPHA:2008,Disorder,[Malformation syndrome],Acrocardiofacial syndrome,"[ACFS, CCGE syndrome, Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome]","A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.",[600460],,,,,Acrocardiofacial syndrome,TRUE,FALSE,Active +GARD:117,Active,Orphanet,ORPHA:798,Disorder,[Malformation syndrome],Schinzel-Giedion syndrome,[SGS],"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.",[269150],,,,,Schinzel Giedion syndrome,TRUE,FALSE,Active +GARD:1173,Legacy,GARD,,,,,,,,,,,,CDG syndrome type 3,TRUE,FALSE,Retired +GARD:1174,Legacy,GARD,,,,,,,,,,,,CDG syndrome type 4,TRUE,FALSE,Active +GARD:1175,Legacy,GARD,,,,,,,,,,,,CDK4 linked melanoma,TRUE,FALSE,Active +GARD:1179,Legacy,GARD,,,,,,,,,,,,Cennamo Gangemi syndrome,TRUE,FALSE,Active +GARD:118,Active,Orphanet,ORPHA:3138,Disorder,[Malformation syndrome],Ulnar-mammary syndrome,"[Pallister ulnar-mammary syndrome, Schinzel syndrome, UMS]","A rare congenital anomalies syndrome characterized by a variable spectrum of ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. The most frequent signs include fifth finger and dental anomalies, delayed puberty and mammary hypoplasia. Short stature and obesity are common.",[181450],,,,,Ulnar-mammary syndrome,TRUE,FALSE,Active +GARD:11853,Legacy,GARD,,,,,,,,,,,,Síndrome de Smith-Magenis,TRUE,TRUE,Active +GARD:11854,Legacy,GARD,,,,,,,,,,,,Cone rod dystrophy,TRUE,FALSE,Retired +GARD:11855,Active,Orphanet,ORPHA:314422,Disorder,[Disease],Ameloblastic carcinoma,,"A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The tumor may metastasize, most commonly to the cervical lymph nodes and the lungs.",,,,,,Ameloblastic carcinoma,TRUE,FALSE,Active +GARD:11856,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan,TRUE,TRUE,Active +GARD:11857,Legacy,GARD,,,,,,,,,,,,Cáncer gástrico difuso,TRUE,TRUE,Active +GARD:11858,Legacy,GARD,,,,,,,,,,,,Síndrome de Bardet-Biedl,TRUE,TRUE,Active +GARD:11859,Legacy,GARD,,,,,,,,,,,,Acidemia metilmalónica,TRUE,TRUE,Active +GARD:11860,Legacy,GARD,,,,,,,,,,,,Síndrome de Li-Fraumeni,TRUE,TRUE,Active +GARD:11861,Legacy,GARD,,,,,,,,,,,,Síndrome de McCune-Albright,TRUE,TRUE,Active +GARD:11862,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 1,TRUE,TRUE,Active +GARD:11863,Legacy,GARD,,,,,,,,,,,,Pioderma gangrenosum,TRUE,TRUE,Active +GARD:11864,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal,TRUE,TRUE,Active +GARD:11865,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal tipo 1,TRUE,TRUE,Active +GARD:11866,Legacy,GARD,,,,,,,,,,,,Síndrome de triple X,TRUE,TRUE,Active +GARD:11867,Legacy,GARD,,,,,,,,,,,,"Agammaglobulinemia, X-linked",TRUE,FALSE,Retired +GARD:11868,Legacy,GARD,,,,,,,,,,,,Hipoplasia cerebelar,TRUE,TRUE,Active +GARD:11869,Legacy,GARD,,,,,,,,,,,,Agenesia del cuerpo calloso,TRUE,TRUE,Active +GARD:1187,Legacy,GARD,,,,,,,,,,,,Cerebellar agenesis,TRUE,FALSE,Active +GARD:11870,Legacy,GARD,,,,,,,,,,,,Síndrome de Desbuquois,TRUE,TRUE,Active +GARD:11871,Legacy,GARD,,,,,,,,,,,,"Dyserythropoietic anemia, congenital type 2",TRUE,FALSE,Retired +GARD:11872,Legacy,GARD,,,,,,,,,,,,"Polysyndactyly, microcephaly, ptosis",TRUE,FALSE,Retired +GARD:11873,Legacy,GARD,,,,,,,,,,,,HRHS,FALSE,TRUE,Retired +GARD:11874,Legacy,GARD,,,,,,,,,,,,"Myositis, inclusion body",TRUE,FALSE,Retired +GARD:11875,Legacy,GARD,,,,,,,,,,,,Pie zambo congénito,TRUE,TRUE,Draft +GARD:11876,Legacy,GARD,,,,,,,,,,,,Enfermedad de Charcot-Marie-Tooth,TRUE,TRUE,Active +GARD:11877,Legacy,GARD,,,,,,,,,,,,Enfermedad de Fabry,TRUE,TRUE,Active +GARD:11878,Legacy,GARD,,,,,,,,,,,,Miohiperplasia hemifacial,TRUE,TRUE,Active +GARD:11879,Legacy,GARD,,,,,,,,,,,,Síndrome X frágil,TRUE,TRUE,Active +GARD:1188,Active,Orphanet,ORPHA:1171,Disorder,[Disease],Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,"[CAPOS syndrome, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome]","A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.",[601338],,,,,"Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss",TRUE,FALSE,Active +GARD:11880,Legacy,GARD,,,,,,,,,,,,Linfohistiocitosis hemofagocítica,TRUE,TRUE,Active +GARD:11881,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 3,TRUE,TRUE,Active +GARD:11882,Legacy,GARD,,,,,,,,,,,,Displasia campomélica,TRUE,TRUE,Active +GARD:11883,Legacy,GARD,,,,,,,,,,,,Síndrome de Down,FALSE,TRUE,Active +GARD:11884,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 2,TRUE,TRUE,Active +GARD:11885,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 4,TRUE,TRUE,Active +GARD:11886,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 5,TRUE,TRUE,Active +GARD:11887,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 6,TRUE,TRUE,Active +GARD:11888,Legacy,GARD,,,,,,,,,,,,Polimicrogiria frontal bilateral,TRUE,TRUE,Draft +GARD:11889,Legacy,GARD,,,,,,,,,,,,Cáncer gástrico difuso hereditario,TRUE,TRUE,Active +GARD:1189,Active,Orphanet,ORPHA:1174,Disorder,[Malformation syndrome],Cerebellar ataxia-ectodermal dysplasia syndrome,,A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.,[212835],,,,,Cerebellar ataxia ectodermal dysplasia,TRUE,FALSE,Active +GARD:11890,Active,Orphanet,ORPHA:79189,Group of disorders,[Clinical group],Peroxisome biogenesis disorder,"[PBD-ZSD, Peroxisome biogenesis disorder spectrum, Peroxisome biogenesis disorder-Zellweger spectrum disorder]","Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms).",,,,,,Peroxisome biogenesis disorder-Zellweger syndrome spectrum,TRUE,FALSE,Active +GARD:11891,Legacy,GARD,,,,,,,,,,,,Propriospinal myoclonus,TRUE,FALSE,Active +GARD:11892,Active,Orphanet,ORPHA:53721,Disorder,[Malformation syndrome],Spinal arteriovenous metameric syndrome,"[Cobb syndrome, Cutaneomeningospinal angiomatosis, SAMS 1-31]","Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.",,,,,,Cobb syndrome,TRUE,FALSE,Active +GARD:11893,Active,Orphanet,ORPHA:2457,Disorder,[Malformation syndrome],Mandibuloacral dysplasia,[MAD],"Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.","[248370, 608612]",,,,,Mandibuloacral dysplasia,TRUE,FALSE,Active +GARD:11894,Active,Orphanet,ORPHA:60025,Disorder,[Disease],Pulmonary alveolar microlithiasis,,"A rare genetic respiratory disease characterized by widespread intra-alveolar accumulation of minute calcium phosphate microliths, leading to pulmonary fibrosis, pulmonary hypertension, and chronic respiratory failure. Age of onset is highly variable, and most patients are asymptomatic for years or decades, before signs and symptoms like dyspnea on exertion, dry cough, chest pain, hemoptysis, or finger clubbing develop. The disease takes a long-term progressive course. Routine chest radiographs typically show a fine, ''sandstorm-like'' micronodular pattern that is more pronounced in the bases than in the apices.",[265100],,,,,Pulmonary alveolar microlithiasis,TRUE,FALSE,Active +GARD:11895,Active,Orphanet,ORPHA:137672,Disorder,[Disease],Pellucid marginal degeneration,,"A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, non-ulcerative, non-inflammatory, clear thinning of the inferior portion of the peripheral cornea (extending from the 4 o'clock to the 8 o'clock position), with an area of corneal protrusion above the point of maximal thinning, resulting in against-the-rule astigmatism with decreased visual acuity. The central cornea is of normal thickness.",,,,,,Pellucid marginal degeneration,TRUE,FALSE,Active +GARD:11896,Legacy,GARD,,,,,,,,,,,,PDGFRB-associated chronic eosinophilic leukemia,TRUE,FALSE,Active +GARD:11897,Active,Orphanet,ORPHA:1871,Disorder,[Disease],Progressive cone dystrophy,[Cone dystrophy],"A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.","[180020, 300085, 304030, 613093, 602093]",,,,,Cone dystrophy,TRUE,FALSE,Active +GARD:11898,Active,Orphanet,ORPHA:254379,Disorder,[Disease],Linear lichen planus,"[Blaschkoid LP, Blaschkoid lichen planus, Linear LP]","Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.",,,,,,Linear lichen planus,TRUE,FALSE,Active +GARD:11899,Active,Orphanet,ORPHA:385,Group of disorders,[Clinical group],Neurodegeneration with brain iron accumulation,[NBIA],"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.",,,,,,Neurodegeneration with brain iron accumulation,TRUE,FALSE,Active +GARD:11900,Legacy,GARD,,,,,,,,,,,,Brittle diabetes,TRUE,FALSE,Active +GARD:11901,Active,Orphanet,ORPHA:300605,Disorder,[Disease],Juvenile amyotrophic lateral sclerosis,"[JALS, Juvenile Charcot disease, Juvenile Lou Gehrig disease]","Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.","[614373, 205100, 602099]",,,,,Juvenile amyotrophic lateral sclerosis,TRUE,FALSE,Active +GARD:11902,Active,Orphanet,ORPHA:590,Disorder,[Disease],Congenital myasthenic syndrome,[CMS],Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.,"[254190, 616313, 616720, 608930, 605809, 608931, 616227, 617143, 616228, 616330, 254210, 617239, 616324, 614198, 616325, 616304, 616224, 614750, 616326, 603034, 610542, 616321, 616322, 601462, 616314, 616323, 616040, 615120, 254300]",,,,,Congenital myasthenic syndromes,TRUE,FALSE,Active +GARD:11903,Active,Orphanet,ORPHA:70593,Disorder,[Disease],Immunodeficiency due to selective anti-polysaccharide antibody deficiency,[Specific anti-polysaccharide antibody deficiency],Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).,,,,,,Specific antibody deficiency,TRUE,FALSE,Active +GARD:11904,Active,Orphanet,ORPHA:137667,Disorder,[Malformation syndrome],Capillary malformation-arteriovenous malformation,[CM-AVM],This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.,[608354],,,,,Capillary malformation-arteriovenous malformation syndrome,TRUE,FALSE,Active +GARD:11905,Legacy,GARD,,,,,,,,,,,,Capillary malformation arteriovenus malformation,TRUE,FALSE,Retired +GARD:11906,Active,Orphanet,ORPHA:171886,Disorder,[Disease],Cylindrical spirals myopathy,,"Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.",,,,,,Cylindrical spirals myopathy,TRUE,FALSE,Active +GARD:11907,Active,Orphanet,ORPHA:86843,Disorder,[Disease],Acute panmyelosis with myelofibrosis,"[Acute myelodysplasia with myelofibrosis, Acute myelofibrosis, Acute myelosclerosis]","A rare unclassified acute myeloid leukemia characterized by an acute panmyeloid proliferation with blasts constituting more than 20% of cells in the bone marrow or peripheral blood, accompanied by fibrosis of the bone marrow. Patients typically present with acute onset of severe constitutional symptoms, bone pain, and pancytopenia. Splenomegaly is minimal or absent. The disease is rapidly progressive with poor therapy response.",,,,,,Acute panmyelosis with myelofibrosis,TRUE,FALSE,Active +GARD:11908,Active,Orphanet,ORPHA:166291,Disorder,[Disease],Dirofilariasis,,"Dirofilariasis is a form of filariasis (see this term), caused by the filarial nematode of the genus Dirofilaria (including Dirofilaria repens, Dirofilaria immitis), which is transmitted by mosquitoes. The disease is characterized by the presence of subcutaneous nodules (or a conjunctival form that develops slowly and that can be painless to tender), edema and erythema at the site of parasite localization, a feeling of 'crawling' under the skin, and the ''Calabar'' swelling (similar to thatin loiasis (see this term). The latter may last a few days and recurrences are possible. Common localizations of dirofilaria are head and neck, most commonly in the periorbital region, the limbs and trunk.",,,,,,Dirofilariasis,TRUE,FALSE,Active +GARD:11909,Legacy,GARD,,,,,,,,,,,,Engraftment syndrome,TRUE,FALSE,Active +GARD:1191,Active,Orphanet,ORPHA:254886,Disorder,[Disease],Autosomal recessive progressive external ophthalmoplegia,[arPEO],"A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.","[258450, 617069]",,,,,"Progressive external ophthalmoplegia, autosomal recessive 1 ",TRUE,FALSE,Active +GARD:11910,Active,Orphanet,ORPHA:79474,Disorder,[Disease],Atypical Werner syndrome,[Atypical progeroid syndrome],"An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.",,,,,,Atypical Werner syndrome,TRUE,FALSE,Active +GARD:11911,Active,Orphanet,ORPHA:94064,Disorder,[Malformation syndrome],Deafness-infertility syndrome,"[DIS, Hearing loss-infertility syndrome]",Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.,[611102],,,,,Deafness-infertility syndrome,TRUE,FALSE,Active +GARD:11912,Legacy,GARD,,,,,,,,,,,,Gliomatosis peritonei,TRUE,FALSE,Active +GARD:11913,Legacy,GARD,,,,,,,,,,,,Brachydactyly,FALSE,FALSE,Active +GARD:11914,Active,Orphanet,ORPHA:275777,Subtype of disorder,[Etiological subtype],Heritable pulmonary arterial hypertension,"[FPAH, Familial pulmonary arterial hypertension, HPAH, Hereditary pulmonary arterial hypertension]","Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.","[615342, 178600]",,,,,Familial pulmonary arterial hypertension,TRUE,FALSE,Retired +GARD:11915,Active,Orphanet,ORPHA:171881,Disorder,[Disease],Cap myopathy,[Cap disease],"Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.","[609284, 609285]",,,,,Cap myopathy,TRUE,FALSE,Active +GARD:11916,Legacy,GARD,,,,,,,,,,,,Carbamyl Phosphate Synthetase,FALSE,FALSE,Active +GARD:11917,Legacy,GARD,,,,,,,,,,,,Autoimmune autonomic ganglionopathy,TRUE,FALSE,Active +GARD:11918,Active,Orphanet,ORPHA:98784,Disorder,[Disease],Autosomal dominant nocturnal frontal lobe epilepsy,"[ADNFLE, Autosomal dominant sleep-related hypermotor epilepsy]",A rare seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.,"[605375, 615005, 600513, 610353, 603204]",,,,,Autosomal dominant nocturnal frontal lobe epilepsy,TRUE,FALSE,Active +GARD:11919,Legacy,GARD,,,,,,,,,,,,Numeric sex chromosome variations,FALSE,FALSE,Active +GARD:11920,Legacy,GARD,,,,,,,,,,,,"47, XXY",FALSE,FALSE,Active +GARD:11921,Legacy,GARD,,,,,,,,,,,,Pediatric hypertension,FALSE,FALSE,Retired +GARD:11922,Legacy,GARD,,,,,,,,,,,,Koro,TRUE,FALSE,Active +GARD:11923,Active,Orphanet,ORPHA:284400,Disorder,[Disease],Small cell carcinoma of the bladder,"[Poorly differentiated neuroendocrine carcinoma of the bladder, SCCB, Small cell bladder cancer, Small cell bladder carcinoma, Small cell carcinoma of the urinary bladder]","Small cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course.",,,,,,Small cell carcinoma of the bladder,TRUE,FALSE,Active +GARD:11924,Legacy,GARD,,,,,,,,,,,,Carcinoma showing thymus-like differentiation,TRUE,FALSE,Active +GARD:11925,Active,Orphanet,ORPHA:596,Disorder,[Disease],X-linked centronuclear myopathy,"[X-linked myotubular myopathy, XLCNM, XLMTM]","A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.",[310400],,,,,X-linked myotubular myopathy,TRUE,FALSE,Active +GARD:11926,Legacy,GARD,,,,,,,,,,,,Restless legs syndrome,FALSE,FALSE,Active +GARD:11927,Active,Orphanet,ORPHA:456318,Disorder,[Disease],Hereditary sensory neuropathy-deafness-dementia syndrome,"[HSAN1E, HSN1E, Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome]","A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory neuropathy, behavioral abnormalities, and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth decade.",[614116],,,,,Hereditary sensory and autonomic neuropathy type 1E,TRUE,FALSE,Active +GARD:11928,Legacy,GARD,,,,,,,,,,,,Juvenile-onset small-fiber polyneuropathy,TRUE,FALSE,Active +GARD:11929,Legacy,GARD,,,,,,,,,,,,Osteoarthritis,FALSE,FALSE,Active +GARD:1193,Legacy,GARD,,,,,,,,,,,,Subacute cerebellar degeneration,TRUE,FALSE,Active +GARD:11930,Legacy,GARD,,,,,,,,,,,,Depression,FALSE,FALSE,Active +GARD:11931,Legacy,GARD,,,,,,,,,,,,Epilepsy,FALSE,FALSE,Draft +GARD:11932,Legacy,GARD,,,,,,,,,,,,Osteoporosis,FALSE,FALSE,Active +GARD:11933,Legacy,GARD,,,,,,,,,,,,Schizophrenia,FALSE,FALSE,Active +GARD:11934,Legacy,GARD,,,,,,,,,,,,Diabetes insipidus,FALSE,FALSE,Active +GARD:11935,Legacy,GARD,,,,,,,,,,,,Rheumatoid arthritis,FALSE,FALSE,Draft +GARD:11936,Legacy,GARD,,,,,,,,,,,,Hepatitis C,FALSE,FALSE,Active +GARD:11937,Legacy,GARD,,,,,,,,,,,,Emphysema,FALSE,FALSE,Active +GARD:11938,Legacy,GARD,,,,,,,,,,,,Goiter,FALSE,FALSE,Active +GARD:11939,Legacy,GARD,,,,,,,,,,,,Enlarged prostate,FALSE,FALSE,Active +GARD:1194,Legacy,GARD,,,,,,,,,,,,Cerebellar hypoplasia,TRUE,FALSE,Active +GARD:11940,Legacy,GARD,,,,,,,,,,,,Heart failure,FALSE,FALSE,Active +GARD:11941,Legacy,GARD,,,,,,,,,,,,Stroke,FALSE,FALSE,Active +GARD:11942,Legacy,GARD,,,,,,,,,,,,Diabetes mellitus type 2,FALSE,FALSE,Active +GARD:11943,Legacy,GARD,,,,,,,,,,,,Simultanagnosia,TRUE,FALSE,Active +GARD:11944,Legacy,GARD,,,,,,,,,,,,Coronary artery disease,FALSE,FALSE,Active +GARD:11945,Legacy,GARD,,,,,,,,,,,,Diabetes,FALSE,FALSE,Active +GARD:11946,Legacy,GARD,,,,,,,,,,,,Dementia,FALSE,FALSE,Active +GARD:11947,Legacy,GARD,,,,,,,,,,,,Heart disease,FALSE,FALSE,Active +GARD:11948,Legacy,GARD,,,,,,,,,,,,Chronic obstructive pulmonary disorder,FALSE,FALSE,Active +GARD:11949,Legacy,GARD,,,,,,,,,,,,Dystonia,FALSE,FALSE,Active +GARD:1195,Active,Orphanet,ORPHA:85186,Disorder,[Malformation syndrome],Endosteal sclerosis-cerebellar hypoplasia syndrome,,"Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.",,,,,,Cerebellar hypoplasia with endosteal sclerosis,TRUE,FALSE,Active +GARD:11950,Legacy,GARD,,,,,,,,,,,,Glaucoma,FALSE,FALSE,Active +GARD:11951,Active,Orphanet,ORPHA:780,Disorder,[Disease],Rhabdomyosarcoma,,A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.,"[268220, 268210]",,,,,rhabdomyosarcoma,FALSE,FALSE,Active +GARD:11952,Legacy,GARD,,,,,,,,,,,,Thymic carcinoma,FALSE,FALSE,Active +GARD:11953,Active,Orphanet,ORPHA:547,Group of disorders,[Category],Non-Hodgkin lymphoma,[NHL],A heterogeneous group of malignant tumors of the lymphoid system.,[605027],,,,,Non-Hodgkin's lymphoma,FALSE,FALSE,Active +GARD:11954,Legacy,GARD,,,,,,,,,,,,Diabetic retinopathy,FALSE,FALSE,Draft +GARD:11955,Legacy,GARD,,,,,,,,,,,,Lymphoma,FALSE,FALSE,Active +GARD:11956,Legacy,GARD,,,,,,,,,,,,Mitochondrial myopathy,FALSE,FALSE,Active +GARD:11957,Legacy,GARD,,,,,,,,,,,,HIV/AIDS,FALSE,FALSE,Active +GARD:11958,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy,FALSE,FALSE,Active +GARD:11959,Legacy,GARD,,,,,,,,,,,,Lipoma,FALSE,FALSE,Active +GARD:1196,Active,Orphanet,ORPHA:2246,Disorder,[Malformation syndrome],Cerebellar hypoplasia-tapetoretinal degeneration syndrome,,"Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.",[213000],,,,,Cerebellar hypoplasia tapetoretinal degeneration,TRUE,FALSE,Active +GARD:11960,Legacy,GARD,,,,,,,,,,,,Cancer,FALSE,FALSE,Active +GARD:11961,Legacy,GARD,,,,,,,,,,,,Angiosarcoma,FALSE,FALSE,Active +GARD:11962,Active,Orphanet,ORPHA:98306,Group of disorders,[Clinical group],Familial partial lipodystrophy,[FPLD],"A group of rare genetic lipodystrophies characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.",,,,,,Familial partial lipodystrophy,TRUE,FALSE,Active +GARD:11963,Legacy,GARD,,,,,,,,,,,,Intellectual disability,FALSE,FALSE,Active +GARD:11964,Legacy,GARD,,,,,,,,,,,,Kidney failure,FALSE,FALSE,Active +GARD:11965,Legacy,GARD,,,,,,,,,,,,Prolymphocytic leukemia,FALSE,FALSE,Active +GARD:11966,Legacy,GARD,,,,,,,,,,,,"Small cell lung cancer, adult",FALSE,FALSE,Retired +GARD:11967,Legacy,GARD,,,,,,,,,,,,Pitt-Hopkins-like syndrome,TRUE,FALSE,Active +GARD:11968,Legacy,GARD,,,,,,,,,,,,Lactobezoar,TRUE,FALSE,Active +GARD:11969,Legacy,GARD,,,,,,,,,,,,Clostridium septicum infection,TRUE,FALSE,Active +GARD:11970,Legacy,GARD,,,,,,,,,,,,Clostridium perfringens infection,TRUE,FALSE,Active +GARD:11971,Active,Orphanet,ORPHA:71273,Disorder,[Disease],Renal nutcracker syndrome,"[Left renal vein entrapment syndrome, RNS]","A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.",,,,,,Renal nutcracker syndrome,TRUE,FALSE,Active +GARD:11972,Active,Orphanet,ORPHA:98672,Group of disorders,[Clinical group],Autosomal dominant optic atrophy,"[ADOA, DOA]",,,,,,,Dominant optic atrophy,TRUE,FALSE,Active +GARD:11973,Active,Orphanet,ORPHA:86886,Disorder,[Disease],Angioimmunoblastic T-cell lymphoma,"[AILT, Immunoblastic lymphadenopathy, Lymphogranulomatosis X, T-cell lymphoma, AILD type]","A rare T-cell non-Hodgkin lymphoma characterized by infiltration of lymph nodes by neoplastic cells of T follicular helper cell origin with a polymorphous inflammatory background including markedly increased follicular dendritic cells and EBV-positive B-cells, as well as prominent proliferation of high endothelial venules. The spleen, liver, skin, and bone marrow are also frequently involved. Patients typically present with generalized lymphadenopathy, hepatosplenomegaly, systemic symptoms, and polyclonal hypergammaglobulinemia. Pruritic skin rash, arthritis, pleural effusion, and ascites may also be observed. The condition is aggressive with generally poor prognosis.",,,,,,Angioimmunoblastic T-cell lymphoma,TRUE,FALSE,Active +GARD:11974,Active,Orphanet,ORPHA:65286,Disorder,[Malformation syndrome],3q29 microdeletion syndrome,"[3q subtelomere deletion syndrome, 3qter deletion, Del(3)(q29), Monosomy 3q29, Monosomy 3qter]",A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.,[609425],,,,,3q29 microdeletion syndrome,TRUE,FALSE,Active +GARD:11975,Legacy,GARD,,,,,,,,,,,,15q13.3 microduplication syndrome,TRUE,FALSE,Active +GARD:11976,Legacy,GARD,,,,,,,,,,,,Cystic adventitial disease,TRUE,FALSE,Active +GARD:11977,Legacy,GARD,,,,,,,,,,,,Prosthetic joint infection,TRUE,FALSE,Active +GARD:11978,Legacy,GARD,,,,,,,,,,,,Sclerosing mucoepidermoid carcinoma with eosinophilia,TRUE,FALSE,Active +GARD:11979,Active,Orphanet,ORPHA:622014,Group of disorders,[Clinical group],Autoimmune encephalitis,"[AE, AIE]",,,,,,,Autoimmune encephalitis,TRUE,FALSE,Active +GARD:1198,Legacy,GARD,,,,,,,,,,,,Cerebello-olivary atrophy,TRUE,FALSE,Active +GARD:11980,Active,Orphanet,ORPHA:85163,Disorder,[Malformation syndrome],Hypomyelination-congenital cataract syndrome,,"Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.",[610532],,,,,Hypomyelination and congenital cataract,TRUE,FALSE,Active +GARD:11981,Legacy,GARD,,,,,,,,,,,,Endometrial Cancer,FALSE,FALSE,Internal +GARD:11982,Active,Orphanet,ORPHA:54370,Disorder,[Disease],Primary membranoproliferative glomerulonephritis,"[Mesangiocapillary glomerulonephritis, Primary MPGN]","A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.","[615008, 305800, 609814, 614809]",,,,,Membranoproliferative glomerulonephritis,TRUE,FALSE,Active +GARD:11983,Active,Orphanet,ORPHA:397596,Disorder,[Disease],Activated PI3K-delta syndrome,"[APDS, Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation]","A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lymphadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.","[615513, 616005]",,,,,PASLI disease,TRUE,FALSE,Active +GARD:11984,Active,Orphanet,ORPHA:29072,Disorder,[Disease],Hereditary pheochromocytoma-paraganglioma,[Familial pheochromocytoma-paraganglioma],"A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.","[618464, 618475, 605373, 168000, 171300, 614165, 115310, 601650]",,,,,Hereditary paraganglioma-pheochromocytoma,TRUE,FALSE,Active +GARD:11985,Active,Orphanet,ORPHA:99329,Disorder,[Malformation syndrome],"48,XYYY syndrome",,"A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.",,,,,,"48,XYYY",TRUE,FALSE,Active +GARD:11986,Legacy,GARD,,,,,,,,,,,,Síndrome de Wolfram,TRUE,TRUE,Active +GARD:11987,Legacy,GARD,,,,,,,,,,,,Enfermedad de Rosai-Dorfman,TRUE,TRUE,Active +GARD:11988,Legacy,GARD,,,,,,,,,,,,Morfea,TRUE,TRUE,Active +GARD:11989,Legacy,GARD,,,,,,,,,,,,Pythiosis,TRUE,FALSE,Active +GARD:1199,Active,Orphanet,ORPHA:1170,Disorder,[Disease],Autosomal recessive cerebelloparenchymal disorder type 3,"[Autosomal recessive spinocerebellar ataxia type 2, SCAR2]","The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.",[213200],,,,,Cerebelloparenchymal disorder 3,TRUE,FALSE,Active +GARD:11990,Legacy,GARD,,,,,,,,,,,,Síndrome de Opitz G/BBB,TRUE,TRUE,Active +GARD:11991,Legacy,GARD,,,,,,,,,,,,Síndrome de Parkes Weber,TRUE,TRUE,Active +GARD:11992,Active,Orphanet,ORPHA:306431,Disorder,[Disease],Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,"[Acquired adult-onset immunodeficiency, Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies]","A rare acquired immunodeficiency disorder characterized by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalized), fever, weight loss and/or reactive skin lesions.",,,,,,Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,TRUE,FALSE,Active +GARD:11993,Legacy,GARD,,,,,,,,,,,,Enfermedad de Huntington,TRUE,TRUE,Active +GARD:11994,Legacy,GARD,,,,,,,,,,,,"Trastorno testicular del desarrollo sexual 46,XX",TRUE,TRUE,Active +GARD:11995,Legacy,GARD,,,,,,,,,,,,Déficit de ornitina transcarbamilasa,TRUE,TRUE,Active +GARD:11996,Legacy,GARD,,,,,,,,,,,,Agenesia cerebelosa,TRUE,TRUE,Draft +GARD:11997,Legacy,GARD,,,,,,,,,,,,Distrofia de conos ,FALSE,TRUE,Active +GARD:11998,Legacy,GARD,,,,,,,,,,,,Celiac disease,FALSE,FALSE,Active +GARD:12,Active,Orphanet,ORPHA:31740,Group of disorders,[Clinical group],Hypersensitivity pneumonitis,[Extrinsic allergic alveolitis],Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.,,,,,,Hypersensitivity pneumonitis,TRUE,FALSE,Active +GARD:120,Legacy,GARD,,,,,,,,,,,,Sennetsu Fever,TRUE,FALSE,Active +GARD:1200,Active,Orphanet,ORPHA:1397,Disorder,[Malformation syndrome],Hydrocephaly-cerebellar agenesis syndrome,,"A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth and is fatal in the neonatal period. There have been no further descriptions in the literature since 1973.",[307010],,,,,Cerebellum agenesis hydrocephaly,TRUE,FALSE,Active +GARD:12000,Legacy,GARD,,,,,,,,,,,,Epidermólisis ampollosa,TRUE,TRUE,Active +GARD:12001,Legacy,GARD,,,,,,,,,,,,Acondroplasia,TRUE,TRUE,Active +GARD:12002,Legacy,GARD,,,,,,,,,,,,Amelogénesis imperfecta,TRUE,TRUE,Active +GARD:12003,Legacy,GARD,,,,,,,,,,,,Mesangioproliferative glomerulopathy,TRUE,FALSE,Active +GARD:12004,Legacy,GARD,,,,,,,,,,,,Síndrome de Prader-Willi,TRUE,TRUE,Active +GARD:12005,Legacy,GARD,,,,,,,,,,,,Hiperekplexia hereditaria,TRUE,TRUE,Active +GARD:12006,Legacy,GARD,,,,,,,,,,,,Quiste de Tarlov,TRUE,TRUE,Active +GARD:12007,Legacy,GARD,,,,,,,,,,,,Trombocitemia esencial,TRUE,TRUE,Active +GARD:12008,Active,Orphanet,ORPHA:141127,Disorder,[Morphological anomaly],Congenital tracheal stenosis,,"A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty.",[603569],,,,,Congenital tracheal stenosis,TRUE,FALSE,Active +GARD:12009,Legacy,GARD,,,,,,,,,,,,Enfermedad de Still del adulto,TRUE,TRUE,Active +GARD:1201,Legacy,GARD,,,,,,,,,,,,Cerebral calcification cerebellar hypoplasia,TRUE,FALSE,Active +GARD:12010,Active,Orphanet,ORPHA:30391,Disorder,[Morphological anomaly],Isolated biliary atresia,"[Isolated atresia of bile ducts, Non-syndromic biliary atresia]","A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.",[210500],,,,,Biliary atresia,TRUE,FALSE,Active +GARD:12011,Active,Orphanet,ORPHA:93114,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,"[CMTDIE, Charcot-Marie-Tooth disease-nephropathy syndrome]","A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec).",[614455],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,TRUE,FALSE,Active +GARD:12012,Legacy,GARD,,,,,,,,,,,,Pseudobulbar affect,FALSE,FALSE,Active +GARD:12013,Legacy,GARD,,,,,,,,,,,,Demoplastic fibroma,FALSE,FALSE,Active +GARD:12014,Legacy,GARD,,,,,,,,,,,,Embryonal tumor,FALSE,FALSE,Active +GARD:12015,Active,Orphanet,ORPHA:247762,Disorder,[Disease],Lipoblastoma,,"A rare soft tissue tumor characterized by a lobulated, localized (lipoblastoma) or diffuse (lipoblastomatosis) lesion resembling fetal adipose tissue, composed of mature and immature adipocytes. It is most commonly found during the first years of life and presents as a slowly growing, well circumscribed mass, which may compress adjacent structures, depending on the location. Malignant transformation or metastasis does not occur, while recurrences are described especially in lipoblastomatosis.",,,,,,Lipoblastoma,TRUE,FALSE,Active +GARD:12016,Active,Orphanet,ORPHA:252050,Disorder,[Disease],Primary melanoma of the central nervous system,"[Malignant melanoma of meninges, Primary melanoma of the CNS]","Primary melanoma of the central nervous system is a rare tumor of meninges arising from leptomeningeal melanocytes, typically in the perimedullary or high cervical region, in the absence of melanoma outside the CNS. The tumor is typically a darkly pigmented, solid mass, often containing hemorrhagic or necrotic areas, composed of sheets of pleomorphic cells with prominent nucleoli, with frequent mitotic figures and parenchymal invasion. Intracranial tumor may present with signs of raised intracranial pressure, focal neurological symptoms related to tumor location, seizures or subarachnoid hemorrhage, spinal tumor may present with back pain, muscle weakness, numbness, plegia or urinary incontinence.",,,,,,Primary melanoma of the central nervous system,TRUE,FALSE,Active +GARD:12017,Legacy,GARD,,,,,,,,,,,,Pineal germ cell tumor,TRUE,FALSE,Active +GARD:12018,Legacy,GARD,,,,,,,,,,,,Sarcoma,FALSE,FALSE,Active +GARD:12019,Legacy,GARD,,,,,,,,,,,,Suprasellar germ cell tumor,FALSE,FALSE,Active +GARD:1202,Legacy,GARD,,,,,,,,,,,,Cerebral calcifications opalescent teeth phosphaturia,TRUE,FALSE,Active +GARD:12020,Legacy,GARD,,,,,,,,,,,,Pyelonephritis,FALSE,FALSE,Active +GARD:12021,Legacy,GARD,,,,,,,,,,,,Xanthogranulomatous pyelonephritis,FALSE,FALSE,Active +GARD:12022,Legacy,GARD,,,,,,,,,,,,Hamartoma,FALSE,FALSE,Active +GARD:12023,Legacy,GARD,,,,,,,,,,,,Cardiac fibroma,FALSE,FALSE,Active +GARD:12024,Legacy,GARD,,,,,,,,,,,,Angiomyolipoma,FALSE,FALSE,Active +GARD:12025,Legacy,GARD,,,,,,,,,,,,Malignant melanoma of soft tissues,FALSE,FALSE,Active +GARD:12026,Legacy,GARD,,,,,,,,,,,,Giant cell epulis,FALSE,FALSE,Active +GARD:12027,Active,Orphanet,ORPHA:146,Disorder,[Disease],Differentiated thyroid carcinoma,"[Papillary or follicular thyroid carcinoma, Well-differentiated thyroid carcinoma]","A rare, slow-growing, epithelial thyroid carcinoma typically presenting as an asymptomatic thyroid mass and is classed as either papillary thyroid cancer (PTC), follicular thyroid cancer (FTC) or Hurthle cell thyroid cancer (HCTC).","[188550, 607464]",,,,,Papillary thyroid carcinoma,TRUE,FALSE,Active +GARD:12028,Legacy,GARD,,,,,,,,,,,,Parathyroid adenoma,FALSE,FALSE,Active +GARD:12029,Legacy,GARD,,,,,,,,,,,,Mixed pattern hyperplasia,FALSE,FALSE,Active +GARD:12030,Legacy,GARD,,,,,,,,,,,,Mixed glioneuronal tumour,FALSE,FALSE,Active +GARD:12031,Legacy,GARD,,,,,,,,,,,,Solid pseudopapillary tumor of the pancreas,FALSE,FALSE,Active +GARD:12032,Active,Orphanet,ORPHA:95854,Disorder,[Morphological anomaly],Levocardia,"[Isolated levocardia, Levocardia with situs inversus]","A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by the heart located in the normal (levo) position associated with abdominal viscera located in the dextro position. Cardiac (e.g. interrupted inferior vena cava with azygous continuation) and/or splenic (asplenia, polysplenia) anomalies, as well as intestinal malrotation, are frequently associated.",,,,,,Isolated levocardia,TRUE,FALSE,Active +GARD:12033,Active,Orphanet,ORPHA:607,Group of disorders,[Clinical group],Nemaline myopathy,"[NEM, NM, Nemaline rod myopathy]","Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.",,,,,,Nemaline myopathy,TRUE,FALSE,Active +GARD:12034,Legacy,GARD,,,,,,,,,,,,Autoimmune retinopathy,TRUE,FALSE,Active +GARD:12035,Legacy,GARD,,,,,,,,,,,,Airway-centered interstitial fibrosis,TRUE,FALSE,Active +GARD:12036,Active,Orphanet,ORPHA:85162,Disorder,[Disease],Facial onset sensory and motor neuronopathy,[FOSMN syndrome],"Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.",,,,,,Facial onset sensory and motor neuronopathy,TRUE,FALSE,Active +GARD:12037,Legacy,GARD,,,,,,,,,,,,Undiagnosed condition,FALSE,FALSE,Internal +GARD:12038,Legacy,GARD,,,,,,,,,,,,No condition mentioned,FALSE,FALSE,Internal +GARD:12039,Legacy,GARD,,,,,,,,,,,,Unknown condition,FALSE,FALSE,Internal +GARD:1204,Legacy,GARD,,,,,,,,,,,,Cerebral cavernous malformation,FALSE,FALSE,Active +GARD:12040,Legacy,GARD,,,,,,,,,,,,Rare diseases,FALSE,FALSE,Internal +GARD:12041,Legacy,GARD,,,,,,,,,,,,Melanoma-associated retinopathy,TRUE,FALSE,Active +GARD:12042,Legacy,GARD,,,,,,,,,,,,Posthypoxic myoclonus,FALSE,FALSE,Retired +GARD:12043,Legacy,GARD,,,,,,,,,,,,Macular fold,FALSE,FALSE,Retired +GARD:12044,Legacy,GARD,,,,,,,,,,,,Cistitis intersticial,TRUE,TRUE,Draft +GARD:12045,Legacy,GARD,,,,,,,,,,,,Síndrome de Axenfeld-Rieger,TRUE,TRUE,Active +GARD:12046,Legacy,GARD,,,,,,,,,,,,Clinical findings,FALSE,FALSE,Internal +GARD:12047,Legacy,GARD,,,,,,,,,,,,Extracranial arteriovenous malformation,TRUE,FALSE,Active +GARD:12048,Active,Orphanet,ORPHA:97567,Disorder,[Disease],Immunotactoid glomerulopathy,[Immunotactoid glomerulonephritis],"Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP, see this term) are often grouped together as pathogenetically related diseases.",,,,,,Immunotactoid glomerulopathy,TRUE,FALSE,Active +GARD:12050,Legacy,GARD,,,,,,,,,,,,Congenital ichthyosis of skin,FALSE,FALSE,Active +GARD:12051,Legacy,GARD,,,,,,,,,,,,Cortical dysplasia,FALSE,FALSE,Active +GARD:12052,Legacy,GARD,,,,,,,,,,,,Demyelinating disease of central nervous system,FALSE,FALSE,Active +GARD:12053,Legacy,GARD,,,,,,,,,,,,Lipomeningocele,FALSE,FALSE,Active +GARD:12054,Legacy,GARD,,,,,,,,,,,,Lipodistrofia congénita de Berardinelli-Seip,TRUE,TRUE,Active +GARD:12055,Legacy,GARD,,,,,,,,,,,,Prostate cancer,FALSE,FALSE,Draft +GARD:12056,Legacy,GARD,,,,,,,,,,,,Síndrome de Potocki-Shaffer,TRUE,TRUE,Active +GARD:12057,Legacy,GARD,,,,,,,,,,,,Osteonecrosis,FALSE,FALSE,Active +GARD:12058,Legacy,GARD,,,,,,,,,,,,Misophonia,TRUE,FALSE,Active +GARD:12059,Active,Orphanet,ORPHA:370933,Disorder,[Disease],GM3 synthase deficiency,[ST3GAL5-CDG],"GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.",[609056],,,,,GM3 synthase deficiency,TRUE,FALSE,Active +GARD:1206,Legacy,GARD,,,,,,,,,,,,Cerebral gigantism jaw cysts,TRUE,FALSE,Active +GARD:12060,Legacy,GARD,,,,,,,,,,,,Cerebellar ataxia,FALSE,FALSE,Active +GARD:12062,Active,Orphanet,ORPHA:420556,Disorder,[Disease],Visual snow syndrome,,"Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms.",,,,,,Visual snow syndrome,TRUE,FALSE,Active +GARD:12063,Legacy,GARD,,,,,,,,,,,,Autoimmune gastrointestinal dysmotility,TRUE,FALSE,Active +GARD:12064,Legacy,GARD,,,,,,,,,,,,Síndrome de KBG,TRUE,TRUE,Active +GARD:12065,Legacy,GARD,,,,,,,,,,,,Bartonella infection,FALSE,FALSE,Draft +GARD:12066,Legacy,GARD,,,,,,,,,,,,Ichthyosis,FALSE,FALSE,Retired +GARD:12067,Legacy,GARD,,,,,,,,,,,,Chromosome translocation,FALSE,FALSE,Internal +GARD:12068,Legacy,GARD,,,,,,,,,,,,Sundown syndrome,FALSE,FALSE,Retired +GARD:12069,Legacy,GARD,,,,,,,,,,,,Fibromyalgia,FALSE,FALSE,Active +GARD:12070,Legacy,GARD,,,,,,,,,,,,Chromosome 8 deletion,FALSE,FALSE,Active +GARD:12071,Legacy,GARD,,,,,,,,,,,,Chronic kidney disease metabolic bone disease,FALSE,FALSE,Active +GARD:12072,Legacy,GARD,,,,,,,,,,,,Enfermedad de Hashimoto,FALSE,TRUE,Active +GARD:12073,Legacy,GARD,,,,,,,,,,,,Lyme disease,FALSE,FALSE,Active +GARD:12074,Active,Orphanet,ORPHA:141132,Disorder,[Malformation syndrome],Oculo-auriculo-vertebral spectrum,"[OAV spectrum, Oculoauriculovertebral spectrum]","A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.",,,,,,Oculo-auriculo-vertebral spectrum,TRUE,FALSE,Active +GARD:12075,Legacy,GARD,,,,,,,,,,,,Nevus mucinosis,TRUE,FALSE,Active +GARD:12076,Active,Orphanet,ORPHA:96121,Disorder,[Malformation syndrome],7q11.23 microduplication syndrome,"[Dup(7)(q11.23), Trisomy 7q11.23]","7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.",[609757],,,,,7q11.23 duplication syndrome,TRUE,FALSE,Active +GARD:12077,Legacy,GARD,,,,,,,,,,,,5q14.3 deletion syndrome,TRUE,FALSE,Retired +GARD:12078,Legacy,GARD,,,,,,,,,,,,Hypoganglionosis,TRUE,FALSE,Active +GARD:12079,Legacy,GARD,,,,,,,,,,,,Tonic-clonic seizures,FALSE,FALSE,Draft +GARD:12080,Legacy,GARD,,,,,,,,,,,,Erb's palsy,FALSE,FALSE,Draft +GARD:12082,Legacy,GARD,,,,,,,,,,,,Phantosmia,FALSE,FALSE,Draft +GARD:12083,Legacy,GARD,,,,,,,,,,,,Adnexal carcinoma of skin,FALSE,FALSE,Draft +GARD:12084,Legacy,GARD,,,,,,,,,,,,Ocular histoplasmosis,FALSE,FALSE,Draft +GARD:12085,Active,Orphanet,ORPHA:2542,Group of disorders,[Clinical group],Isolated microphthalmia-anophthalmia-coloboma,[Isolated anophthalmia-microphthalmia syndrome],"A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.","[251600, 613517, 611038, 613094, 613704, 615113, 156850, 610093]",,,,,Microphthalmia,TRUE,FALSE,Active +GARD:12086,Legacy,GARD,,,,,,,,,,,,Granulomatous lymphocytic interstitial lung disease,FALSE,FALSE,Draft +GARD:12087,Legacy,GARD,,,,,,,,,,,,Urticaria,FALSE,FALSE,Draft +GARD:12088,Legacy,GARD,,,,,,,,,,,,Hemoglobin SE disease,TRUE,FALSE,Active +GARD:12089,Legacy,GARD,,,,,,,,,,,,Hemihypertrophy,TRUE,FALSE,Active +GARD:12090,Legacy,GARD,,,,,,,,,,,,Azoospermia,FALSE,FALSE,Draft +GARD:12091,Legacy,GARD,,,,,,,,,,,,Obstructive sleep apnea,FALSE,FALSE,Draft +GARD:12092,Legacy,GARD,,,,,,,,,,,,Periodic limb movement disorder,FALSE,FALSE,Draft +GARD:12093,Legacy,GARD,,,,,,,,,,,,Maculopapular cutaneous mastocytosis,FALSE,FALSE,Active +GARD:12094,Legacy,GARD,,,,,,,,,,,,Duane anomaly,FALSE,FALSE,Retired +GARD:12095,Legacy,GARD,,,,,,,,,,,,Blindness,FALSE,FALSE,Draft +GARD:12096,Legacy,GARD,,,,,,,,,,,,Iron overload,FALSE,FALSE,Draft +GARD:12097,Active,Orphanet,ORPHA:275761,Disorder,[Disease],Lysosomal acid lipase deficiency,[LAL deficiency],"A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis.",[278000],,,,,Lysosomal acid lipase deficiency,TRUE,FALSE,Active +GARD:12098,Legacy,GARD,,,,,,,,,,,,Deficiencia de la lipasa ácida lisosómica ,TRUE,TRUE,Active +GARD:12099,Active,Orphanet,ORPHA:75234,Subtype of disorder,[Clinical subtype],Cholesteryl ester storage disease,[Cholesterol ester storage disease],"A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.",[278000],,,,,Cholesteryl ester storage disease,TRUE,FALSE,Active +GARD:121,Active,Orphanet,ORPHA:1807,Subtype of disorder,[Clinical subtype],Focal facial dermal dysplasia type III,"[FFDD type III, FFDD3, Focal facial dermal dysplasia 3, Setleis type, Setleis syndrome]","Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.",[227260],,,,,Facial ectodermal dysplasia,TRUE,FALSE,Active +GARD:1210,Active,Orphanet,ORPHA:1394,Disorder,[Malformation syndrome],Cerebrofaciothoracic dysplasia,[Pascual-Castroviejo syndrome type 1],"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.",[213980],,,,,Cerebro facio thoracic dysplasia,TRUE,FALSE,Active +GARD:12100,Legacy,GARD,,,,,,,,,,,,Enfermedad por almacenamiento de ésteres de colesterol,TRUE,TRUE,Active +GARD:12101,Legacy,GARD,,,,,,,,,,,,Enfermedad de Wolman,TRUE,TRUE,Active +GARD:12102,Legacy,GARD,,,,,,,,,,,,Chromosome 9p tetrasomy,TRUE,FALSE,Retired +GARD:12103,Legacy,GARD,,,,,,,,,,,,Complex post-traumatic stress disorder,FALSE,FALSE,Draft +GARD:12104,Legacy,GARD,,,,,,,,,,,,Autoimmune disease,FALSE,FALSE,Internal +GARD:12105,Legacy,GARD,,,,,,,,,,,,Traumatic brain injury,FALSE,FALSE,Draft +GARD:12106,Legacy,GARD,,,,,,,,,,,,Coloboma,FALSE,FALSE,Draft +GARD:12107,Active,Orphanet,ORPHA:178469,Subtype of disorder,[Etiological subtype],Autosomal dominant non-syndromic intellectual disability,,,"[614257, 618330, 612580, 614563, 612581, 614113, 619188, 618106, 156200, 616393, 615828, 616083, 617854, 613970, 612621, 614254, 617796, 614255, 618095, 616977, 617798, 616579, 617799, 614256]",,,,,Autosomal dominant non-syndromic intellectual disability,TRUE,FALSE,Active +GARD:12108,Legacy,GARD,,,,,,,,,,,,Scoliosis,FALSE,FALSE,Draft +GARD:12109,Active,Orphanet,ORPHA:33364,Disorder,[Disease],Trichothiodystrophy,,"Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).","[616395, 616943, 300953, 601675, 618546, 616390, 234050]",,,,,Trichothiodystrophy ,TRUE,FALSE,Active +GARD:12110,Legacy,GARD,,,,,,,,,,,,Post orgasmic sick syndrome,TRUE,FALSE,Retired +GARD:12113,Legacy,GARD,,,,,,,,,,,,Trochleitis,TRUE,FALSE,Active +GARD:12114,Legacy,GARD,,,,,,,,,,,,Hypotension,FALSE,FALSE,Draft +GARD:12115,Legacy,GARD,,,,,,,,,,,,Hypermethioninemia,FALSE,FALSE,Draft +GARD:12116,Legacy,GARD,,,,,,,,,,,,Neuropsychiatric systemic lupus erythematosus,FALSE,FALSE,Draft +GARD:12117,Active,Orphanet,ORPHA:2512,Subtype of disorder,[Etiological subtype],Autosomal recessive primary microcephaly,"[MCPH, Microcephalia vera, Microcephaly vera, True microcephaly]",Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.,"[617800, 618351, 614852, 251200, 616486, 616080, 604321, 616051, 617983, 608393, 614673, 617090, 617984, 618179, 616402, 608716, 604317, 617985, 617914, 603802, 604804, 612703, 616681]",,,,,Autosomal recessive primary microcephaly,TRUE,FALSE,Active +GARD:12118,Legacy,GARD,,,,,,,,,,,,Polyneuropathy,FALSE,FALSE,Draft +GARD:12119,Legacy,GARD,,,,,,,,,,,,Unspecified chromosome abnormality,FALSE,FALSE,Draft +GARD:12120,Legacy,GARD,,,,,,,,,,,,Síndrome del cabello impeinable ,TRUE,TRUE,Active +GARD:12121,Legacy,GARD,,,,,,,,,,,,Lisencefalia ligada al X asociada a genitales anormales,TRUE,TRUE,Active +GARD:12122,Legacy,GARD,,,,,,,,,,,,Sialorrhea,FALSE,FALSE,Retired +GARD:12123,Active,Orphanet,ORPHA:294975,Disorder,[Morphological anomaly],Congenital absence of upper arm and forearm with hand present,[Humero-radio-ulnar intercalary transverse meromelia],"A rare congenital limb malformation characterized by absence or marked shortening of the proximal to mid portion of an upper limb, while the hand is normal or nearly normal. The condition may be unilateral or bilateral, and occur sporadically or as part of a malformation syndrome.",,,,,,Phocomelia,TRUE,FALSE,Active +GARD:12124,Active,Orphanet,ORPHA:158061,Disorder,[Clinical syndrome],Macrophage activation syndrome,,"A rare hemophagocytic syndrome characterized by excessive activation and proliferation of macrophages and T cells occurring in the context of a variety of diseases, including infections, neoplasms, rheumatic disorders, and leading to sudden onset of persistent fever, lymphadenopathy, and hepatosplenomegaly. Complications include profound depression of one or more blood cell lines with coagulopathy and pancytopenia, and impaired liver and renal function. Bone marrow examination reveals numerous well differentiated macrophages actively phagocytosing hematopoietic elements.",,,,,,Macrophage activation syndrome,TRUE,FALSE,Active +GARD:12125,Active,Orphanet,ORPHA:289666,Disorder,[Disease],Plasmablastic lymphoma,[PBL],"A rare aggressive B-cell non-Hodgkin lymphoma characterized by neoplastic cells resembling B immunoblasts or plasmablasts with a CD20-negative plasmacytic phenotype. The tumor may occur in the oral cavity, the gastrointestinal tract, or other, predominantly extranodal, sites and is typically associated with immunodeficiency or -suppression. The tumor cells are EBV-positive in most cases. Patients often present with disseminated bone involvement. Paraproteinemia may also be detected. Prognosis is generally poor.",,,,,,Plasmablastic lymphoma,TRUE,FALSE,Active +GARD:12126,Legacy,GARD,,,,,,,,,,,,Small fiber neuropathy,TRUE,FALSE,Draft +GARD:12127,Legacy,GARD,,,,,,,,,,,,Chromosome 1q21.1 rearrangement,FALSE,FALSE,Draft +GARD:12128,Active,Orphanet,ORPHA:79282,Subtype of disorder,[Clinical subtype],"Methylmalonic acidemia with homocystinuria, type cblC","[CblC defect, Cobalamin C defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC, Methylmalonic aciduria with homocystinuria, type cblC]","cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.",[277400],,,,,Methylmalonic acidemia with homocystinuria type cblC,TRUE,FALSE,Active +GARD:12129,Legacy,GARD,,,,,,,,,,,,Degenerative myopia,FALSE,FALSE,Draft +GARD:12130,Legacy,GARD,,,,,,,,,,,,Eosinophilic mastitis,TRUE,FALSE,Active +GARD:12131,Legacy,GARD,,,,,,,,,,,,Optic neuropathy,FALSE,FALSE,Active +GARD:12132,Legacy,GARD,,,,,,,,,,,,Rheumatoid arthritis-interstitial lung disease,FALSE,FALSE,Draft +GARD:12133,Legacy,GARD,,,,,,,,,,,,Nodding syndrome,TRUE,FALSE,Active +GARD:12134,Legacy,GARD,,,,,,,,,,,,Chromosome 18p deletion syndrome,FALSE,FALSE,Retired +GARD:12135,Legacy,GARD,,,,,,,,,,,,Brachial plexus injury,FALSE,FALSE,Draft +GARD:12136,Legacy,GARD,,,,,,,,,,,,C1q nephropathy,TRUE,FALSE,Active +GARD:12137,Legacy,GARD,,,,,,,,,,,,Multiple chemical sensitivity,FALSE,FALSE,Draft +GARD:12138,Legacy,GARD,,,,,,,,,,,,Apocrine carcinoma,TRUE,FALSE,Active +GARD:12140,Legacy,GARD,,,,,,,,,,,,Trisomy 3 syndrome,FALSE,FALSE,Retired +GARD:12141,Legacy,GARD,,,,,,,,,,,,May-Thurner syndrome,TRUE,FALSE,Active +GARD:12142,Legacy,GARD,,,,,,,,,,,,Melanocytic matricoma,FALSE,FALSE,Draft +GARD:12143,Legacy,GARD,,,,,,,,,,,,Optic atrophy,FALSE,FALSE,Draft +GARD:12144,Active,Orphanet,ORPHA:255,Group of disorders,[Clinical group],Dopa-responsive dystonia,"[HPD with diurnal fluctuation, Hereditary progressive dystonia with diurnal fluctuation]","Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.",,,,,,GTPCH1-deficient DRD,TRUE,FALSE,Active +GARD:12145,Legacy,GARD,,,,,,,,,,,,Attention deficit hyperactivity disorder ,FALSE,FALSE,Draft +GARD:12146,Legacy,GARD,,,,,,,,,,,,Night blindness,FALSE,FALSE,Draft +GARD:12147,Legacy,GARD,,,,,,,,,,,,Insensibilidad congénita al dolor,TRUE,TRUE,Active +GARD:12148,Legacy,GARD,,,,,,,,,,,,Argyria,FALSE,FALSE,Draft +GARD:12149,Legacy,GARD,,,,,,,,,,,,Alien hand syndrome,TRUE,FALSE,Active +GARD:12150,Legacy,GARD,,,,,,,,,,,,Allergy to anesthetic,FALSE,FALSE,Draft +GARD:12151,Legacy,GARD,,,,,,,,,,,,Crusted scabies,TRUE,FALSE,Active +GARD:12152,Legacy,GARD,,,,,,,,,,,,Polymyalgia rheumatica,FALSE,FALSE,Draft +GARD:12153,Legacy,GARD,,,,,,,,,,,,Unilateral focal polymicrogyria,FALSE,FALSE,Draft +GARD:12154,Legacy,GARD,,,,,,,,,,,,Síndrome de Emanuel,TRUE,TRUE,Active +GARD:12155,Legacy,GARD,,,,,,,,,,,,Renal hypomagnesemia-6,TRUE,FALSE,Active +GARD:12156,Legacy,GARD,,,,,,,,,,,,Posterior Cortical Atrophy ,FALSE,FALSE,Draft +GARD:12157,Legacy,GARD,,,,,,,,,,,,Bertolotti syndrome,FALSE,FALSE,Draft +GARD:12158,Legacy,GARD,,,,,,,,,,,,Thoracic aortic aneurysm,FALSE,FALSE,Draft +GARD:12159,Legacy,GARD,,,,,,,,,,,,Hemoglobin C-beta-thalassemia,FALSE,FALSE,Draft +GARD:12160,Legacy,GARD,,,,,,,,,,,,Atopic dermatitis,FALSE,FALSE,Draft +GARD:12161,Legacy,GARD,,,,,,,,,,,,Adenocarcinoma,FALSE,FALSE,Draft +GARD:12162,Active,Orphanet,ORPHA:97239,Disorder,[Disease],Reducing body myopathy,,Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.,"[300717, 300718]",,,,,Reducing body myopathy,TRUE,FALSE,Active +GARD:12163,Active,Orphanet,ORPHA:209905,Disorder,[Disease],Brain-lung-thyroid syndrome,[Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome],"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).",[610978],,,,,Brain-lung-thyroid syndrome,TRUE,FALSE,Active +GARD:12164,Legacy,GARD,,,,,,,,,,,,Dysautonomia,FALSE,FALSE,Draft +GARD:12165,Legacy,GARD,,,,,,,,,,,,Familial Dupuytren contracture,FALSE,FALSE,Active +GARD:12166,Active,Orphanet,ORPHA:228384,Disorder,[Malformation syndrome],5q14.3 microdeletion syndrome,"[Del(5)(q14.3), Monosomy 5q14.3]","The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.",[613443],,,,,5q14.3 microdeletion syndrome ,TRUE,FALSE,Active +GARD:12168,Legacy,GARD,,,,,,,,,,,,Hemoglobin J Baltimore,FALSE,FALSE,Draft +GARD:12169,Legacy,GARD,,,,,,,,,,,,Mucous membrance pemphigoid,FALSE,FALSE,Draft +GARD:1217,Active,Orphanet,ORPHA:247691,Disorder,[Disease],Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,"[RVCL, RVCL-S, Retinal vasculopathy and cerebral leukoencephalopathy]","A rare inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS) all exhibiting progressive visual impairment as well as variable cerebral dysfunction.",[192315],,,,,Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations,TRUE,FALSE,Active +GARD:12170,Legacy,GARD,,,,,,,,,,,,"Phospolipase A2, Group VI",FALSE,FALSE,Retired +GARD:12171,Legacy,GARD,,,,,,,,,,,,Cleft lip/palate,FALSE,FALSE,Draft +GARD:12172,Legacy,GARD,,,,,,,,,,,,Deafness,FALSE,FALSE,Draft +GARD:12173,Active,Orphanet,ORPHA:505652,Disorder,[Disease],CDKL5-deficiency disorder,[CDD],A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.,[300672],,,,,CDKL5 deficiency disorder,TRUE,FALSE,Active +GARD:12174,Legacy,GARD,,,,,,,,,,,,Spondylocostal dysostosis,TRUE,FALSE,Active +GARD:12175,Legacy,GARD,,,,,,,,,,,,Partial lipodystrophy,FALSE,FALSE,Retired +GARD:12176,Legacy,GARD,,,,,,,,,,,,Adrenal hyperplasia ,FALSE,FALSE,Draft +GARD:12177,Legacy,GARD,,,,,,,,,,,,Acquired Glanzmann Thrombasthenia,FALSE,FALSE,Draft +GARD:12178,Legacy,GARD,,,,,,,,,,,,Autoinflammatory pustular neutrophilic disease ,FALSE,FALSE,Draft +GARD:12179,Legacy,GARD,,,,,,,,,,,,Sulfite sensitivity,FALSE,FALSE,Draft +GARD:1218,Active,Orphanet,ORPHA:228337,Subtype of disorder,[Etiological subtype],CLN10 disease,[Cathepsin D deficiency],,[610127],,,,,Neuronal ceroid lipofuscinosis 10 ,TRUE,FALSE,Active +GARD:12180,Legacy,GARD,,,,,,,,,,,, Mitochondrial neurogastrointestinal encephalopathy disease (mngie),FALSE,FALSE,Retired +GARD:12181,Legacy,GARD,,,,,,,,,,,,Mitochondrial disease,FALSE,FALSE,Draft +GARD:12182,Legacy,GARD,,,,,,,,,,,,PIK3CA-related overgrowth spectrum,TRUE,FALSE,Active +GARD:12183,Legacy,GARD,,,,,,,,,,,,Alternaria,FALSE,FALSE,Draft +GARD:12184,Legacy,GARD,,,,,,,,,,,, Severe malignant osteopetrosis,FALSE,FALSE,Draft +GARD:12185,Active,Orphanet,ORPHA:65682,Disorder,[Disease],Benign recurrent intrahepatic cholestasis,"[BRIC, Summerskill-Walshe-Tygstrup syndrome]","Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term).","[243300, 605479]",,,,,Benign recurrent intrahepatic cholestasis,TRUE,FALSE,Active +GARD:12186,Legacy,GARD,,,,,,,,,,,,Melkersson Rosenthal Syndrome,FALSE,FALSE,Draft +GARD:12187,Legacy,GARD,,,,,,,,,,,,Muiltfocal non-infectious encephalitis,FALSE,FALSE,Draft +GARD:12188,Legacy,GARD,,,,,,,,,,,,Tracheomalacia,FALSE,FALSE,Retired +GARD:12189,Legacy,GARD,,,,,,,,,,,,Hyponatremia,FALSE,FALSE,Draft +GARD:1219,Active,Orphanet,ORPHA:228329,Subtype of disorder,[Etiological subtype],CLN1 disease,,,[256730],,,,,Ceroid lipofuscinosis neuronal 1,TRUE,FALSE,Active +GARD:12190,Legacy,GARD,,,,,,,,,,,,Sepsis ,FALSE,FALSE,Draft +GARD:12191,Legacy,GARD,,,,,,,,,,,,Deficiencia de isobutiril-CoA-deshidrogenasa,TRUE,TRUE,Active +GARD:12192,Legacy,GARD,,,,,,,,,,,,Peripheral neuropathy,FALSE,FALSE,Active +GARD:12193,Legacy,GARD,,,,,,,,,,,,Leukocytosis,FALSE,FALSE,Draft +GARD:12194,Legacy,GARD,,,,,,,,,,,,Posterior cortical atrophy (Benson's syndrome),FALSE,FALSE,Draft +GARD:12195,Legacy,GARD,,,,,,,,,,,,Paroxysmal dystonia,FALSE,FALSE,Draft +GARD:12196,Legacy,GARD,,,,,,,,,,,,Chromosome 1p36 duplication,FALSE,FALSE,Draft +GARD:12197,Legacy,GARD,,,,,,,,,,,,Infantile Myofibroma ,FALSE,FALSE,Active +GARD:12198,Legacy,GARD,,,,,,,,,,,,Antiphospholipid syndrome with lupus antibodies ,FALSE,FALSE,Draft +GARD:12199,Active,Orphanet,ORPHA:439212,Disorder,[Disease],Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,[EMARDD],"A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.",[614399],,,,,"Early-onset myopathy, areflexia, respiratory distress and dysphagia",TRUE,FALSE,Active +GARD:122,Active,Orphanet,ORPHA:85191,Disorder,[Malformation syndrome],Singleton-Merten dysplasia,[Singleton-Merten syndrome],"Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).","[616298, 182250]",,,,,Singleton-Merten syndrome,TRUE,FALSE,Active +GARD:1220,Active,Orphanet,ORPHA:228366,Subtype of disorder,[Etiological subtype],CLN7 disease,,,[610951],,,,,Neuronal ceroid lipofuscinosis 7,TRUE,FALSE,Active +GARD:12200,Legacy,GARD,,,,,,,,,,,,Hyperparathyroidism,FALSE,FALSE,Draft +GARD:12201,Legacy,GARD,,,,,,,,,,,,Adenolyosuccinate Lyase Deficiency ,FALSE,FALSE,Draft +GARD:12202,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal tipo 2,TRUE,TRUE,Active +GARD:12203,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal tipo 3,TRUE,TRUE,Active +GARD:12204,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal tipo 4,TRUE,TRUE,Active +GARD:12205,Legacy,GARD,,,,,,,,,,,,Frontotemporal dementia with parkinsonism-17,FALSE,FALSE,Draft +GARD:12206,Legacy,GARD,,,,,,,,,,,,Pulsatile tinnitus,FALSE,FALSE,Draft +GARD:12207,Legacy,GARD,,,,,,,,,,,,Raoultella ornithinolytica,FALSE,FALSE,Draft +GARD:12208,Legacy,GARD,,,,,,,,,,,,Sudden unexplained nocturnal death syndrome,FALSE,FALSE,Draft +GARD:12210,Legacy,GARD,,,,,,,,,,,,Bladder cancer,FALSE,FALSE,Active +GARD:12211,Legacy,GARD,,,,,,,,,,,,eye floaters,FALSE,FALSE,Draft +GARD:12212,Legacy,GARD,,,,,,,,,,,,Pilomatrixomas,FALSE,FALSE,Draft +GARD:12213,Legacy,GARD,,,,,,,,,,,,Central auditory processing disorder (CAPD),FALSE,FALSE,Retired +GARD:12214,Legacy,GARD,,,,,,,,,,,,scar tissue as a result of vitrectomy ,FALSE,FALSE,Draft +GARD:12215,Legacy,GARD,,,,,,,,,,,,Síndrome nefrótico,FALSE,TRUE,Draft +GARD:12216,Legacy,GARD,,,,,,,,,,,,Adrenoleucodistrofia ligada al X ,TRUE,TRUE,Active +GARD:12217,Legacy,GARD,,,,,,,,,,,,Pudenal neuraligia,FALSE,FALSE,Draft +GARD:12218,Legacy,GARD,,,,,,,,,,,,Diabetes MODY,TRUE,TRUE,Draft +GARD:12219,Active,Orphanet,ORPHA:94065,Subtype of disorder,[Etiological subtype],15q24 microdeletion syndrome,"[Del(15)(q24), Monosomy 15q24]","15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.",[613406],,,,,15q24 microdeletion syndrome,TRUE,FALSE,Active +GARD:1222,Active,Orphanet,ORPHA:228343,Subtype of disorder,[Etiological subtype],CLN4B disease,,,[162350],,,,,Autosomal dominant neuronal ceroid lipofuscinosis 4B,TRUE,FALSE,Active +GARD:12220,Legacy,GARD,,,,,,,,,,,,Pulmonary embolism with acute pancreatitis,FALSE,FALSE,Draft +GARD:12221,Legacy,GARD,,,,,,,,,,,,nested variant of urothelial carcinoma,FALSE,FALSE,Draft +GARD:12222,Legacy,GARD,,,,,,,,,,,,Bronquiolitis obliterante ,TRUE,TRUE,Active +GARD:12223,Legacy,GARD,,,,,,,,,,,,Cataplexy,FALSE,FALSE,Draft +GARD:12224,Legacy,GARD,,,,,,,,,,,,Cowpox,FALSE,FALSE,Draft +GARD:12225,Legacy,GARD,,,,,,,,,,,,Spherocytosis,FALSE,FALSE,Draft +GARD:12226,Legacy,GARD,,,,,,,,,,,,Amyloidosis,FALSE,FALSE,Draft +GARD:12227,Legacy,GARD,,,,,,,,,,,,Chromosome 3q microduplication,FALSE,FALSE,Retired +GARD:12228,Legacy,GARD,,,,,,,,,,,,Síndrome de Morgagni-Stewart-Morel ,TRUE,TRUE,Active +GARD:12229,Legacy,GARD,,,,,,,,,,,,"47,XY,+i(8p)/46,XY (mosaic tetrasomy 8p)",FALSE,FALSE,Draft +GARD:1223,Active,Orphanet,ORPHA:228360,Subtype of disorder,[Etiological subtype],CLN5 disease,,,[256731],,,,,Neuronal ceroid lipofuscinosis 5,TRUE,FALSE,Active +GARD:12230,Legacy,GARD,,,,,,,,,,,,varicose vein ,FALSE,FALSE,Draft +GARD:12231,Legacy,GARD,,,,,,,,,,,,Neuralgia-inducing cavitational osteonecrosis (NICO),FALSE,FALSE,Draft +GARD:12232,Active,Orphanet,ORPHA:284324,Disorder,[Disease],Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,"[Autosomal recessive spinocerebellar ataxia type 7, SCAR7]","A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy.",[609270],,,,,Spinocerebellar ataxia autosomal recessive 7,TRUE,FALSE,Active +GARD:12233,Legacy,GARD,,,,,,,,,,,,MED23,TRUE,FALSE,Active +GARD:12234,Active,Orphanet,ORPHA:88644,Disorder,[Disease],"Autosomal recessive ataxia, Beauce type","[ARCA1, Autosomal recessive cerebellar ataxia type 1, SCAR8]",A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.,[610743],,,,,Spinocerebellar ataxia autosomal recessive 8,TRUE,FALSE,Active +GARD:12235,Legacy,GARD,,,,,,,,,,,,Hyperostosis frontalis interna,FALSE,FALSE,Draft +GARD:12236,Legacy,GARD,,,,,,,,,,,,Ischemic optic neuropathy,FALSE,FALSE,Draft +GARD:12237,Legacy,GARD,,,,,,,,,,,,Sensorineural hearing loss,FALSE,FALSE,Retired +GARD:12238,Legacy,GARD,,,,,,,,,,,,Chromosome 1 deletion,FALSE,FALSE,Draft +GARD:12239,Legacy,GARD,,,,,,,,,,,,ACTH deficiency,FALSE,FALSE,Draft +GARD:1224,Active,Orphanet,ORPHA:228363,Subtype of disorder,[Etiological subtype],CLN6 disease,,,[601780],,,,,Neuronal ceroid lipofuscinosis 6,TRUE,FALSE,Active +GARD:12240,Legacy,GARD,,,,,,,,,,,,athelia,FALSE,FALSE,Draft +GARD:12241,Active,Orphanet,ORPHA:309015,Subtype of disorder,[Etiological subtype],Familial lipoprotein lipase deficiency,[LPL deficiency],,"[144250, 238600]",,,,,Familial lipoprotein lipase deficiency,TRUE,FALSE,Active +GARD:12242,Legacy,GARD,,,,,,,,,,,,"Síndrome 47, XYY",TRUE,TRUE,Active +GARD:12243,Legacy,GARD,,,,,,,,,,,,Nonischemic cardiomyopathy,FALSE,FALSE,Draft +GARD:12244,Active,Orphanet,ORPHA:363558,Disorder,[Disease],New-onset refractory status epilepticus,[NORSE],"New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.",,,,,,New-onset refractory status epilepticus,TRUE,FALSE,Active +GARD:12245,Legacy,GARD,,,,,,,,,,,,Myopia,FALSE,FALSE,Draft +GARD:12246,Legacy,GARD,,,,,,,,,,,,Branch retinal vein occlusion,FALSE,FALSE,Draft +GARD:12247,Legacy,GARD,,,,,,,,,,,,barium toxicity ,FALSE,FALSE,Draft +GARD:12248,Legacy,GARD,,,,,,,,,,,,spastic paraplegia,FALSE,FALSE,Draft +GARD:12249,Legacy,GARD,,,,,,,,,,,,Latent autoimmune diabetes in adults,FALSE,FALSE,Draft +GARD:12250,Legacy,GARD,,,,,,,,,,,,Congenital unilateral lower lip paralysis,FALSE,FALSE,Draft +GARD:12251,Active,Orphanet,ORPHA:1885,Disorder,[Malformation syndrome],Isolated ectopia lentis,"[Ectopia lentis syndrome, Familial ectopia lentis]","Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.","[225100, 225200, 129600]",,,,,Isolated ectopia lentis,TRUE,FALSE,Active +GARD:12252,Legacy,GARD,,,,,,,,,,,,Chiari malformations,FALSE,FALSE,Retired +GARD:12253,Legacy,GARD,,,,,,,,,,,,Autoimmune blistering disease,FALSE,FALSE,Draft +GARD:12255,Legacy,GARD,,,,,,,,,,,,Síndrome de Klippel-Trénaunay,TRUE,TRUE,Active +GARD:12256,Legacy,GARD,,,,,,,,,,,,Hypogammaglobulinemia,FALSE,FALSE,Draft +GARD:12257,Active,Orphanet,ORPHA:300857,Disorder,[Disease],T-cell/histiocyte rich large B cell lymphoma,[THRLBCL],"T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL; see this term), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma (see these terms) and has an aggressive clinical course.",,,,,,T-cell/histiocyte rich large B cell lymphoma,TRUE,FALSE,Active +GARD:12258,Legacy,GARD,,,,,,,,,,,,Cataracts,FALSE,FALSE,Draft +GARD:12259,Legacy,GARD,,,,,,,,,,,,Glycogen storage disease,FALSE,FALSE,Draft +GARD:1226,Active,Orphanet,ORPHA:2218,Disorder,[Disease],Cervical hypertrichosis-peripheral neuropathy syndrome,,"A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.",[239840],,,,,Cervical hypertrichosis peripheral neuropathy,TRUE,FALSE,Active +GARD:12260,Legacy,GARD,,,,,,,,,,,,Síndrome del ojo de gato,TRUE,TRUE,Active +GARD:12261,Legacy,GARD,,,,,,,,,,,,Trisomy 15,FALSE,FALSE,Draft +GARD:12262,Legacy,GARD,,,,,,,,,,,,Syncope,FALSE,FALSE,Draft +GARD:12263,Legacy,GARD,,,,,,,,,,,,Proliferative verrucous leukoplakia,TRUE,FALSE,Active +GARD:12264,Active,Orphanet,ORPHA:36383,Disorder,[Disease],COL4A1-related familial vascular leukoencephalopathy,"[COL4A1-related brain small vessel disease with hemorrhage, COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome]","COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.",[175780],,,,,COL4A1-related brain small-vessel disease,FALSE,FALSE,Draft +GARD:12265,Legacy,GARD,,,,,,,,,,,,Methicillin-resistant Staphylococcus aureus,FALSE,FALSE,Draft +GARD:12266,Legacy,GARD,,,,,,,,,,,,"Blepharophimosis, ptosis, and epicanthus inversus syndrome",TRUE,FALSE,Active +GARD:12267,Active,Orphanet,ORPHA:88642,Disorder,[Disease],Congenital insensitivity to pain-anosmia-neuropathic arthropathy,[SCN9A-related congenital insensitivity to pain],,[243000],,,,,Congenital insensitivity to pain,TRUE,FALSE,Active +GARD:12268,Legacy,GARD,,,,,,,,,,,,Dimethylsulfidemia,TRUE,FALSE,Draft +GARD:12269,Legacy,GARD,,,,,,,,,,,,Hemihipertrofia,TRUE,TRUE,Active +GARD:1227,Legacy,GARD,,,,,,,,,,,,"Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction",TRUE,FALSE,Active +GARD:12270,Legacy,GARD,,,,,,,,,,,,Síndrome de Beckwith-Wiedemann ,TRUE,TRUE,Active +GARD:12271,Legacy,GARD,,,,,,,,,,,,Polymicrogyria,FALSE,FALSE,Active +GARD:12272,Legacy,GARD,,,,,,,,,,,,Abdominal adhesions,FALSE,FALSE,Draft +GARD:12273,Legacy,GARD,,,,,,,,,,,,Encephalomalacia,FALSE,FALSE,Draft +GARD:12274,Legacy,GARD,,,,,,,,,,,,Inflammatory arthritis,FALSE,FALSE,Draft +GARD:12275,Legacy,GARD,,,,,,,,,,,,Disaccharide deficiency,FALSE,FALSE,Draft +GARD:12276,Legacy,GARD,,,,,,,,,,,,Hereditary Neuropathy with Pressure Palsy,FALSE,FALSE,Draft +GARD:12277,Legacy,GARD,,,,,,,,,,,,Macular amyloidosis,FALSE,FALSE,Draft +GARD:12278,Legacy,GARD,,,,,,,,,,,,Gastroparesis,TRUE,FALSE,Active +GARD:12279,Legacy,GARD,,,,,,,,,,,,Malignant ectomesenchymoma ,TRUE,FALSE,Active +GARD:12280,Active,Orphanet,ORPHA:226298,Group of disorders,[Clinical group],Central congenital hypothyroidism,[Secondary hypothyroidism],Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.,,,,,,Central congenital hypothyroidism,TRUE,FALSE,Active +GARD:12281,Active,Orphanet,ORPHA:435988,Disorder,[Disease],Chronic atrial and intestinal dysrhythmia syndrome,"[CAID syndrome, Chronic atrial dysrhythmia-intestinal motility disorder]","A rare genetic disease characterized by co-occurrence of sick sinus syndrome (manifesting as sinus bradycardia, often requiring pacemaker implantation) and chronic intestinal pseudo-obstruction (which may be of myogenic or neurogenic origin and usually requires total parenteral nutrition), with an age of onset within the first four decades of life. Other cardiac features, such as atrial flutter or fibrillation and valve anomalies, may also be present.",[616201],,,,,CAID syndrome,TRUE,FALSE,Active +GARD:12282,Legacy,GARD,,,,,,,,,,,,Síndrome de Lynch,TRUE,TRUE,Active +GARD:12283,Legacy,GARD,,,,,,,,,,,,Myiasis,FALSE,FALSE,Draft +GARD:12285,Legacy,GARD,,,,,,,,,,,,Ovarian sex cord tumor with annular tubules,TRUE,FALSE,Active +GARD:12287,Legacy,GARD,,,,,,,,,,,,Tetrasomy 13,FALSE,FALSE,Draft +GARD:12288,Legacy,GARD,,,,,,,,,,,,Disostosis espondilotorácica,TRUE,TRUE,Active +GARD:12289,Legacy,GARD,,,,,,,,,,,,Ictiosis recesiva ligada al cromosoma X,TRUE,TRUE,Active +GARD:12290,Legacy,GARD,,,,,,,,,,,,Sclerocornea,FALSE,FALSE,Draft +GARD:12291,Active,Orphanet,ORPHA:48471,Group of disorders,[Category],Lissencephaly,,The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.,,,,,,Lissencephaly,TRUE,FALSE,Active +GARD:12292,Legacy,GARD,,,,,,,,,,,,Cholinergic urticaria,FALSE,FALSE,Draft +GARD:12293,Legacy,GARD,,,,,,,,,,,,Toxoplasmosis,FALSE,FALSE,Draft +GARD:12294,Legacy,GARD,,,,,,,,,,,,Diabetic ketoacidosis,FALSE,FALSE,Draft +GARD:12295,Legacy,GARD,,,,,,,,,,,,BPES,FALSE,FALSE,Draft +GARD:12296,Legacy,GARD,,,,,,,,,,,,Lactose Intolerance,FALSE,FALSE,Draft +GARD:12297,Legacy,GARD,,,,,,,,,,,,chromosome 2 paracentric inversion,FALSE,TRUE,Draft +GARD:12298,Legacy,GARD,,,,,,,,,,,,Major depressive disorder,FALSE,FALSE,Draft +GARD:12299,Active,Orphanet,ORPHA:75374,Disorder,[Disease],Bradyopsia,"[PERRS, Prolonged electroretinal response suppression]","Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.",[608415],,,,,Bradyopsia,TRUE,FALSE,Active +GARD:12300,Active,Orphanet,ORPHA:280270,Disorder,[Disease],Pelizaeus-Merzbacher-like disease,[PMLD],Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term).,"[612233, 260600, 608804, 300523]",,,,,Pelizaeus-Merzbacher-like disease,TRUE,FALSE,Active +GARD:12301,Active,Orphanet,ORPHA:614,Disorder,[Disease],Thomsen and Becker disease,[Myotonia congenita],"A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).","[160800, 255700]",,,,,Myotonia congenita,TRUE,FALSE,Active +GARD:12302,Legacy,GARD,,,,,,,,,,,,Livedo Reticularis,FALSE,FALSE,Draft +GARD:12303,Legacy,GARD,,,,,,,,,,,,Arthritis,FALSE,FALSE,Draft +GARD:12304,Legacy,GARD,,,,,,,,,,,,Niemann-Pick disease type C,TRUE,FALSE,Draft +GARD:12305,Legacy,GARD,,,,,,,,,,,,SCAR9,FALSE,FALSE,Retired +GARD:12306,Legacy,GARD,,,,,,,,,,,,Horsefly bite,FALSE,FALSE,Retired +GARD:12307,Legacy,GARD,,,,,,,,,,,,Cephalohematoma,FALSE,FALSE,Retired +GARD:12308,Active,Orphanet,ORPHA:293208,Disorder,[Disease],Celiac artery compression syndrome,"[Dunbar syndrome, MALS, Median arcuate ligament syndrome]","A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.",,,,,,Median arcuate ligament syndrome,TRUE,FALSE,Active +GARD:12309,Legacy,GARD,,,,,,,,,,,,Posterior reversible encephalopathy syndrome,FALSE,FALSE,Draft +GARD:12310,Legacy,GARD,,,,,,,,,,,,Ataxia,FALSE,FALSE,Draft +GARD:12311,Active,Orphanet,ORPHA:53690,Disorder,[Disease],Congenital lactase deficiency,,Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.,[223000],,,,,Congenital lactase deficiency,TRUE,FALSE,Active +GARD:12312,Active,Orphanet,ORPHA:85173,Disorder,[Malformation syndrome],IMAGe syndrome,[Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome],"A rare genetic disease characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalciuria, among others.",[614732],,,,,IMAGe syndrome,TRUE,FALSE,Active +GARD:12313,Legacy,GARD,,,,,,,,,,,,Familiar chronic mucocutaneous candidiasis,FALSE,FALSE,Active +GARD:12314,Active,Orphanet,ORPHA:391487,Disorder,[Disease],Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,,"An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.",[614162],,,,,Autosomal dominant candidiasis familial chronic mucocutaneous,TRUE,FALSE,Active +GARD:12315,Active,Orphanet,ORPHA:404454,Disorder,[Disease],Alacrimia-choreoathetosis-liver dysfunction syndrome,"[NGLY1 deficiency, NGLY1-CDDG]","A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.",[615273],,,,,Deficiency of N-glycanase 1,TRUE,FALSE,Active +GARD:12316,Active,Orphanet,ORPHA:436159,Disorder,[Disease],Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,"[ALPS due to CTLA4 haploinsuffiency, CHAI, CTLA-4 haploinsufficiency with autoimmune infiltration disease]","A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.",[616100],,,,,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,TRUE,FALSE,Active +GARD:12317,Legacy,GARD,,,,,,,,,,,,Dysgeusia,FALSE,FALSE,Draft +GARD:12318,Legacy,GARD,,,,,,,,,,,,Enfermedad de Danon,TRUE,TRUE,Active +GARD:12319,Legacy,GARD,,,,,,,,,,,,Genitourinary venolymphatic malformation,FALSE,FALSE,Draft +GARD:12320,Legacy,GARD,,,,,,,,,,,,Epiglottitis,FALSE,FALSE,Retired +GARD:12321,Legacy,GARD,,,,,,,,,,,,Double outlet right atrium,TRUE,FALSE,Active +GARD:12322,Legacy,GARD,,,,,,,,,,,,Skewfoot deformity,FALSE,FALSE,Draft +GARD:12323,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos,TRUE,TRUE,Active +GARD:12324,Legacy,GARD,,,,,,,,,,,,Seudotumor cerebri,TRUE,TRUE,Active +GARD:12325,Legacy,GARD,,,,,,,,,,,,4-aminobutyrate aminotransferase deficiency,FALSE,FALSE,Retired +GARD:12327,Legacy,GARD,,,,,,,,,,,,Metacondromatosis,TRUE,TRUE,Active +GARD:12328,Active,Orphanet,ORPHA:64752,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 5,"[Congenital insensitivity to pain and thermal analgesia, HSAN5, Hereditary sensory and autonomic neuropathy type V]","A disorder that is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.",[608654],,,,,Hereditary sensory and autonomic neuropathy type V,TRUE,FALSE,Active +GARD:12329,Legacy,GARD,,,,,,,,,,,,Liquen plano pigmentoso,TRUE,TRUE,Active +GARD:1233,Active,Orphanet,ORPHA:1401,Disorder,[Malformation syndrome],CHAND syndrome,"[Baughman syndrome, CHANDS, Curly hair-ankyloblepharon-nail dysplasia syndrome]","A rare ectodermal dysplasia syndrome characterized by the association of sparse, woolly, curly hair, ankyloblepharon, and nail dysplasia. Additional reported features include abnormal oral frenula, bifid tongue, lip pits, adhesions between upper and lower lips, hypertelorism and flat nasal bridge, alveolar synechia, and imperforate vagina.",[214350],,,,,CHAND syndrome,TRUE,FALSE,Retired +GARD:12330,Legacy,GARD,,,,,,,,,,,,Frontal lobe damage,FALSE,FALSE,Draft +GARD:12331,Active,Orphanet,ORPHA:36204,Group of disorders,[Clinical group],Intestinal lymphangiectasia,,,,,,,,Intestinal lymphangiectasia,TRUE,FALSE,Active +GARD:12332,Legacy,GARD,,,,,,,,,,,,Epstein-Barr virus,FALSE,FALSE,Retired +GARD:12334,Legacy,GARD,,,,,,,,,,,,Macular Pucker,FALSE,FALSE,Draft +GARD:12335,Active,Orphanet,ORPHA:213610,Disorder,[Disease],Carcinosarcoma of the corpus uteri,"[Malignant mixed Müllerian tumor of the corpus uteri, Mixed Müllerian cancer of corpus uteri, Uterine carcinosarcoma]","Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported.",,,,,,Uterine Carcinosarcoma ,TRUE,FALSE,Active +GARD:12336,Legacy,GARD,,,,,,,,,,,,Leukemia,FALSE,FALSE,Draft +GARD:12337,Legacy,GARD,,,,,,,,,,,,Retinal choroiditis,FALSE,FALSE,Retired +GARD:12338,Active,Orphanet,ORPHA:859,Disorder,[Disease],Transcobalamin deficiency,"[Inherited deficiency of transcobalamin, Transcobalamin II deficiency]","Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.",[275350],,,,,Transcobalamin II Deficiency,FALSE,FALSE,Active +GARD:12339,Legacy,GARD,,,,,,,,,,,,Acute Beryllium disease ,FALSE,FALSE,Retired +GARD:1234,Active,Orphanet,ORPHA:2235,Disorder,[Disease],Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,[Chang-Davidson-Carlson syndrome],This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa (see this term). It has been described in two sisters born to nonconsanguineous parents.,,,,,,Chang Davidson Carlson syndrome,TRUE,FALSE,Retired +GARD:12341,Legacy,GARD,,,,,,,,,,,,Nephrolithiasis,FALSE,FALSE,Draft +GARD:12342,Legacy,GARD,,,,,,,,,,,,Undifferentiated connective tissue disease ,FALSE,FALSE,Active +GARD:12343,Legacy,GARD,,,,,,,,,,,,Ataxia espinocerebelosa,TRUE,TRUE,Active +GARD:12344,Active,Orphanet,ORPHA:254367,Group of disorders,[Category],Rare lichen planus,[Rare LP],"Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides (see these terms). Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis (see these terms).",,,,,,Rare lichen planus,TRUE,FALSE,Active +GARD:12345,Legacy,GARD,,,,,,,,,,,,Síndrome de MonoMAC ,TRUE,TRUE,Active +GARD:12346,Legacy,GARD,,,,,,,,,,,,Cylindroma,TRUE,FALSE,Retired +GARD:12347,Active,Orphanet,ORPHA:38874,Disorder,[Disease],Dihydropyrimidinuria,[Dihydropyrimidinase deficiency],"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.",[222748],,,,,Dihydropyrimidinase deficiency,TRUE,FALSE,Active +GARD:12348,Active,Orphanet,ORPHA:263487,Disorder,[Disease],COG5-CDG,"[CDG syndrome type IIi, CDG-IIi, CDG2I, Carbohydrate deficient glycoprotein syndrome type IIi, Congenital disorder of glycosylation type 2i, Congenital disorder of glycosylation type IIi]","COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.",[613612],,,,,COG5-CDG (CDG-IIi),TRUE,FALSE,Active +GARD:1235,Active,Orphanet,ORPHA:3282,Disorder,[Disease],Multifocal atrial tachycardia,"[Chaotic atrial tachycardia, MAT]",Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.,,,,,,Chaotic atrial tachycardia,TRUE,FALSE,Active +GARD:12350,Legacy,GARD,,,,,,,,,,,,Congenital disorders of glycosylation type IIi,TRUE,FALSE,Retired +GARD:12351,Active,Orphanet+OMIM,OMIM:604370,Subtype of disorder,[Disease subtype],"Breast-ovarian cancer, familial, susceptibility to, 1",[Hboc1],,[604370],[145],[Hereditary breast and ovarian cancer syndrome],[15010],,BRCA1 hereditary breast and ovarian cancer syndrome,TRUE,FALSE,Active +GARD:12352,Active,Orphanet+OMIM,OMIM:612555,Subtype of disorder,[Disease subtype],"Breast-ovarian cancer, familial, susceptibility to, 2",[Hboc2],,[612555],[145],[Hereditary breast and ovarian cancer syndrome],[15010],,BRCA2 hereditary breast and ovarian cancer syndrome,TRUE,FALSE,Active +GARD:12353,Active,Orphanet,ORPHA:324442,Disorder,[Disease],Autosomal recessive axonal neuropathy with neuromyotonia,"[ARAN-NM, ARCMT2-NM, Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia]","A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.",[137200],,,,,Autosomal recessive axonal neuropathy with neuromyotonia,TRUE,FALSE,Active +GARD:12354,Active,Orphanet,ORPHA:93610,Subtype of disorder,[Clinical subtype],Distal renal tubular acidosis with anemia,[dRTA with anemia],A rare form of distal renal tubular acidosis characterized by a defect in renal acidification and hereditary hemolytic anemia.,[611590],,,,,Distal renal tubular acidosis with hemolytic anemia,TRUE,FALSE,Active +GARD:12355,Legacy,GARD,,,,,,,,,,,,SLC4A1-associated distal renal tubular acidosis,TRUE,FALSE,Active +GARD:12356,Active,Orphanet+OMIM,OMIM:615582,Subtype of disorder,[Disease subtype],Loeys-dietz syndrome 5,[Rienhoff syndrome],"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by {1:Bertoli-Avella et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 ({609192}).",[615582],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,Rienhoff syndrome,TRUE,FALSE,Active +GARD:12357,Active,Orphanet,ORPHA:425120,Disorder,[Disease],STING-associated vasculopathy with onset in infancy,[SAVI],"STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.",[615934],,,,,STING-associated vasculopathy with onset in infancy,TRUE,FALSE,Active +GARD:12358,Legacy,GARD,,,,,,,,,,,,Recurrent hydatidiform mole,TRUE,FALSE,Active +GARD:12359,Legacy,GARD,,,,,,,,,,,,optic nerve atrophy,FALSE,FALSE,Retired +GARD:12360,Active,Orphanet,ORPHA:83642,Disorder,[Disease],Microcytic anemia with liver iron overload,,A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.,[206100],,,,,Hypochromic microcytic anemia with iron overload,TRUE,FALSE,Active +GARD:12361,Legacy,GARD,,,,,,,,,,,,Eosinophil peroxidase deficiency,TRUE,FALSE,Active +GARD:12362,Active,Orphanet,ORPHA:251274,Disorder,[Disease],Familial hyperaldosteronism type III,"[FH-III, FH3, Familial hyperaldosteronism type 3]","A rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non- glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.",[613677],,,,,Familial hyperaldosteronism type III ,TRUE,FALSE,Active +GARD:12363,Legacy,GARD,,,,,,,,,,,,Oncopsychosis,FALSE,FALSE,Retired +GARD:12364,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia 22,TRUE,FALSE,Retired +GARD:12365,Active,Orphanet,ORPHA:98772,Disorder,[Disease],Spinocerebellar ataxia type 19/22,[SCA19/22],"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.",[607346],,,,,Spinocerebellar ataxia 19 and 22,TRUE,FALSE,Active +GARD:12366,Active,Orphanet,ORPHA:276193,Disorder,[Disease],Spinocerebellar ataxia type 35,[SCA35],"An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis.",[613908],,,,,Spinocerebellar ataxia 35,TRUE,FALSE,Active +GARD:12367,Active,Orphanet,ORPHA:276198,Disorder,[Disease],Spinocerebellar ataxia type 36,"[Asidan, SCA36]","An autosomal dominant cerebellar ataxia type 1 that characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.",[614153],,,,,Spinocerebellar ataxia 36,TRUE,FALSE,Active +GARD:12368,Active,Orphanet,ORPHA:363710,Disorder,[Disease],Spinocerebellar ataxia type 37,"[SCA37, Spinocerebellar ataxia with altered vertical eye movements]",An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements.,[615945],,,,,Spinocerebellar ataxia 37,TRUE,FALSE,Active +GARD:12369,Active,Orphanet,ORPHA:423296,Disorder,[Disease],Spinocerebellar ataxia type 38,[SCA38],"Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.",[615957],,,,,Spinocerebellar ataxia 38,TRUE,FALSE,Active +GARD:1237,Active,Orphanet,ORPHA:46627,Disorder,[Malformation syndrome],Char syndrome,[Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).",[169100],,,,,Char syndrome,TRUE,FALSE,Active +GARD:12370,Legacy,GARD,,,,,,,,,,,,Spinal cerebellar ataxia 40,TRUE,FALSE,Retired +GARD:12371,Active,Orphanet,ORPHA:423275,Disorder,[Disease],Spinocerebellar ataxia type 40,[SCA40],"Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.",[616053],,,,,Spinocerebellar ataxia 40,TRUE,FALSE,Active +GARD:12372,Active,Orphanet,ORPHA:314404,Disorder,[Disease],Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,"[ADCA-DN syndrome, Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome]","A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.",[604121],,,,,"Autosomal dominant cerebellar ataxia, deafness, and narcolepsy",TRUE,FALSE,Active +GARD:12373,Legacy,GARD,,,,,,,,,,,,Síndrome de Hennekam,TRUE,TRUE,Active +GARD:12374,Legacy,GARD,,,,,,,,,,,,Esclerosis lateral amiotrófica,TRUE,TRUE,Active +GARD:12375,Active,Orphanet,ORPHA:228000,Disorder,[Biological anomaly],Idiopathic CD4 lymphocytopenia,,"Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.",[615518],,,,,Idiopathic CD4 positive T-lymphocytopenia,TRUE,FALSE,Active +GARD:12376,Legacy,GARD,,,,,,,,,,,,Rubeola congénita,TRUE,TRUE,Active +GARD:12377,Legacy,GARD,,,,,,,,,,,,Hypertrichosis ,FALSE,FALSE,Active +GARD:12378,Legacy,GARD,,,,,,,,,,,,Macular Hole,FALSE,FALSE,Draft +GARD:12379,Legacy,GARD,,,,,,,,,,,,Transcobalamin 2 deficiency,FALSE,FALSE,Retired +GARD:12380,Legacy,GARD,,,,,,,,,,,,Spinal Stenosis,FALSE,FALSE,Draft +GARD:12381,Legacy,GARD,,,,,,,,,,,,Boils,FALSE,FALSE,Retired +GARD:12382,Active,Orphanet,ORPHA:168593,Disorder,[Malformation syndrome],Sudden infant death-dysgenesis of the testes syndrome,[SIDDT],Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.,[608800],,,,,Sudden infant death with dysgenesis of the testes syndrome,TRUE,FALSE,Active +GARD:12383,Active,Orphanet,ORPHA:404553,Disorder,[Disease],Vasculitis due to ADA2 deficiency,[Vasculitis due to DADA2],"Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.",[615688],,,,,Adenosine Deaminase 2 deficiency,TRUE,FALSE,Active +GARD:12384,Active,Orphanet,ORPHA:324561,Disorder,[Disease],Hypopigmentation-punctate palmoplantar keratoderma syndrome,"[Cole disease, Guttate hypopigmentation and punctate palmoplantar keratoderma, Hypopigmentation and punctate keratosis of the palms and soles]","A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated.",[615522],,,,,Cole disease ,TRUE,FALSE,Active +GARD:12385,Active,Orphanet,ORPHA:137893,Subtype of disorder,[Clinical subtype],Male infertility due to large-headed multiflagellar polyploid spermatozoa,"[Macrocephalic sperm head syndrome, Male infertility due to macrozoospermia]","A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).",[243060],,,,,Macrozoospermia ,TRUE,FALSE,Active +GARD:12386,Legacy,GARD,,,,,,,,,,,,Trastorno bipolar ,FALSE,TRUE,Active +GARD:12387,Legacy,GARD,,,,,,,,,,,,Fibrosis retroperitoneal,TRUE,TRUE,Active +GARD:12388,Active,Orphanet,ORPHA:370079,Disorder,[Malformation syndrome],Proximal 16p11.2 microduplication syndrome,"[Proximal dup(16)(p11.2), Proximal trisomy 16p11.2]","Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.",[614671],,,,,16p11.2 duplication,TRUE,FALSE,Active +GARD:12389,Legacy,GARD,,,,,,,,,,,,Milk protein allergy,FALSE,FALSE,Retired +GARD:12390,Active,Orphanet,ORPHA:37748,Disorder,[Malformation syndrome],Schnitzler syndrome,"[Chronic urticaria with gammopathy, Chronic urticaria with macroglobulinemia]","Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.",,,,,,Schnitzler syndrome,TRUE,FALSE,Active +GARD:12391,Active,Orphanet+OMIM,OMIM:616056,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 26,"[Epileptic encephalopathy, early infantile, 26]","Developmental and epileptic encephalopathy-26 (DEE26) is a neurologic disorder characterized by onset of variable types of seizures late in infancy or in the first years of life. Affected children show developmental delay with intellectual disability, poor speech, and behavioral abnormalities. EEG shows multifocal epileptic discharges, and may show hypsarrhythmia (summary by {1:Torkamani et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616056],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,Early infantile epileptic encephalopathy 26 ,TRUE,FALSE,Active +GARD:12392,Legacy,GARD,,,,,,,,,,,,Cutaneous-skeletal hypophosphatemia syndrome ,TRUE,FALSE,Active +GARD:12393,Active,Orphanet,ORPHA:91131,Disorder,[Disease],DK1-CDG,"[CDG syndrome type Im, CDG-Im, CDG1M, Carbohydrate deficient glycoprotein syndrome type Im, Congenital disorder of glycosylation type 1m, Congenital disorder of glycosylation type Im, Dolichol kinase deficiency, Hypotonia and ichthyosis due to dolichol phosphate deficiency]","DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.",[610768],,,,,DOLK-CDG (CDG-Im),TRUE,FALSE,Active +GARD:12394,Active,Orphanet,ORPHA:244310,Disorder,[Disease],RFT1-CDG,"[CDG syndrome type In, CDG-In, CDG1N, Carbohydrate deficient glycoprotein syndrome type In, Congenital disorder of glycosylation type 1n, Congenital disorder of glycosylation type In, Man5GlcNAc2-PP-Dol flippase deficiency]","RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).",[612015],,,,,RFT1-CDG (CDG-In),TRUE,FALSE,Active +GARD:12395,Active,Orphanet,ORPHA:263494,Disorder,[Disease],DPM3-CDG,"[CDG syndrome type Io, CDG-Io, CDG1O, Carbohydrate deficient glycoprotein syndrome type Io, Congenital disorder of glycosylation type 1o, Congenital disorder of glycosylation type Io]","DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).",[612937],,,,,DPM3-CDG (CDG-Io),TRUE,FALSE,Active +GARD:12396,Active,Orphanet,ORPHA:280071,Disorder,[Disease],ALG11-CDG,"[CDG syndrome type Ip, CDG-Ip, CDG1P, Carbohydrate deficient glycoprotein syndrome type Ip, Congenital disorder of glycosylation type 1p, Congenital disorder of glycosylation type Ip]","A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).",[613661],,,,,ALG11-CDG (CDG-Ip),TRUE,FALSE,Active +GARD:12397,Active,Orphanet,ORPHA:324737,Disorder,[Disease],SRD5A3-CDG,"[CDG syndrome type Iq, CDG-Iq, CDG1Q, Congenital disorder of glycosylation type 1q, Congenital disorder of glycosylation type Iq]","SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.",[612379],,,,,SRD5A3-CDG (CDG-Iq) ,TRUE,FALSE,Active +GARD:12398,Active,Orphanet,ORPHA:300536,Disorder,[Disease],DDOST-CDG,"[CDG syndrome type Ir, CDG-Ir, CDG1R, Carbohydrate deficient glycoprotein syndrome type Ir, Congenital disorder of glycosylation type 1r, Congenital disorder of glycosylation type Ir]","DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).",[614507],,,,,DDOST-CDG (CDG-Ir),TRUE,FALSE,Active +GARD:12399,Legacy,GARD,,,,,,,,,,,,MAGT1-CDG,FALSE,FALSE,Active +GARD:124,Legacy,GARD,,,,,,,,,,,,Allain-Babin-Demarquez syndrome,TRUE,FALSE,Active +GARD:1240,Active,Orphanet,ORPHA:101078,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 4,"[CMT4X, CMTX4, Cowchock syndrome]","X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.",[310490],,,,,X-linked Charcot-Marie-Tooth disease type 4,TRUE,FALSE,Active +GARD:12400,Legacy,GARD,,,,,,,,,,,,TUSC3-CDG,TRUE,FALSE,Active +GARD:12401,Active,Orphanet,ORPHA:324422,Disorder,[Disease],ALG13-CDG,"[CDG syndrome type Is, CDG-Is, CDG1S, Congenital disorder of glycosylation type 1s, Congenital disorder of glycosylation type Is]","A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).",[300884],,,,,ALG13-CDG,TRUE,FALSE,Active +GARD:12403,Active,Orphanet,ORPHA:356961,Disorder,[Disease],SLC35A2-CDG,"[CDG syndrome type IIm, CDG-IIm, CDG2M, Congenital disorder of glycosylation type 2m, Congenital disorder of glycosylation type IIm]","A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).",[300896],,,,,SLC35A2-CDG,TRUE,FALSE,Active +GARD:12404,Active,Orphanet+OMIM,OMIM:615510,Subtype of disorder,[Disease subtype],"Alacrima, achalasia, and mental retardation syndrome",,"Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome ({231550}), but patients with AAMR do not have adrenal insufficiency (summary by {3:Koehler et al., 2013}).\n\nSee also {300858} for a phenotypically similar disorder that shows X-linked inheritance.",[615510],[869],[Triple A syndrome],[457],,GMPPA-CDG,TRUE,FALSE,Active +GARD:12405,Active,Orphanet,ORPHA:370927,Disorder,[Disease],SSR4-CDG,"[CDG syndrome type Iy, CDG-Iy, CDG1Y, Carbohydrate deficient glycoprotein syndrome type Iy, Congenital disorder of glycosylation type 1y, Congenital disorder of glycosylation type Iy]","SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).",[300934],,,,,SSR4-CDG,TRUE,FALSE,Active +GARD:12406,Legacy,GARD,,,,,,,,,,,,STT3A-CDG and STT3B-CDG,TRUE,FALSE,Active +GARD:12407,Legacy,GARD,,,,,,,,,,,,Adverse events of 5-alpha-reductase inhibitors,TRUE,FALSE,Active +GARD:12408,Legacy,GARD,,,,,,,,,,,,COG7-CDG ,TRUE,FALSE,Retired +GARD:12409,Active,Orphanet,ORPHA:238459,Disorder,[Disease],SLC35A1-CDG,"[CDG syndrome type IIf, CDG-IIf, CDG2F, CMP-sialic acid transporter deficiency, Carbohydrate deficient glycoprotein syndrome type IIf, Congenital disorder of glycosylation type 2f, Congenital disorder of glycosylation type IIf]","SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.",[603585],,,,,SLC35A1-CDG (CDG-IIf),TRUE,FALSE,Active +GARD:1241,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease deafness recessive type,TRUE,FALSE,Retired +GARD:12410,Legacy,GARD,,,,,,,,,,,,COG1-CDG ,FALSE,FALSE,Retired +GARD:12411,Active,Orphanet,ORPHA:95428,Disorder,[Disease],COG8-CDG,"[CDG syndrome type IIh, CDG-IIh, CDG2H, Carbohydrate deficient glycoprotein syndrome type IIh, Congenital disorder of glycosylation type 2h, Congenital disorder of glycosylation type IIh]","The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.",[611182],,,,,COG8-CDG (CDG-IIh),TRUE,FALSE,Active +GARD:12412,Active,Orphanet,ORPHA:263501,Disorder,[Disease],COG4-CDG,"[CDG syndrome type IIj, CDG-IIj, CDG2J, Carbohydrate deficient glycoprotein syndrome type IIj, Congenital disorder of glycosylation type 2j, Congenital disorder of glycosylation type IIj]","COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.",[613489],,,,,COG4-CDG (CDG-IIj),TRUE,FALSE,Active +GARD:12413,Active,Orphanet,ORPHA:314667,Disorder,[Disease],TMEM165-CDG,"[CDG syndrome type IIk, CDG-IIk, CDG2K, Carbohydrate deficient glycoprotein syndrome type IIk, Congenital disorder of glycosylation type 2k, Congenital disorder of glycosylation type IIk]","TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).",[614727],,,,,TMEM165-CDG (CDG-IIk),TRUE,FALSE,Active +GARD:12414,Legacy,GARD,,,,,,,,,,,,COG6-CDG ,TRUE,FALSE,Retired +GARD:12415,Legacy,GARD,,,,,,,,,,,,DHDDS-CDG,TRUE,FALSE,Active +GARD:12416,Active,Orphanet,ORPHA:329178,Disorder,[Disease],Congenital muscular dystrophy with intellectual disability and severe epilepsy,"[CDG syndrome type Iu, CDG-Iu, CDG1U, CMD with intellectual disability and severe epilepsy, Carbohydrate deficient glycoprotein syndrome type Iu, Congenital disorder of glycosylation type 1u, Congenital disorder of glycosylation type Iu, DPM2-CDG]","Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.",[615042],,,,,DPM2-CDG,TRUE,FALSE,Active +GARD:12417,Active,Orphanet,ORPHA:397941,Disorder,[Disease],MAN1B1-CDG,"[Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency, Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency, Congenital disorder of glycosylation type II due to MAN1B1 deficiency, Intellectual disability-truncal obesity syndrome]","MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).",,,,,,MAN1B1-CDG,TRUE,FALSE,Active +GARD:12418,Legacy,GARD,,,,,,,,,,,,Galactosemia,TRUE,TRUE,Active +GARD:12419,Legacy,GARD,,,,,,,,,,,,Enfermedad de Kawasaki ,TRUE,TRUE,Active +GARD:1242,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth type 1 aplasia cutis congenita,TRUE,FALSE,Retired +GARD:12420,Legacy,GARD,,,,,,,,,,,,Intracranial lipoma,FALSE,FALSE,Retired +GARD:12421,Active,Orphanet,ORPHA:263775,Group of disorders,[Category],Partial duplication of the short arm of chromosome X,"[Partial duplication of chromosome Xp, Partial trisomy of chromosome Xp, Partial trisomy of the short arm of chromosome X]",,,,,,,Partial duplication of the short arm of chromosome X,TRUE,FALSE,Active +GARD:12422,Legacy,GARD,,,,,,,,,,,,Enfermedad de Caffey ,TRUE,TRUE,Active +GARD:12423,Legacy,GARD,,,,,,,,,,,,Hipocondroplasia,TRUE,TRUE,Active +GARD:12425,Legacy,GARD,,,,,,,,,,,,Head and neck cancer,FALSE,FALSE,Active +GARD:12426,Active,Orphanet,ORPHA:1229,Disorder,[Malformation syndrome],Congenital intrauterine infection-like syndrome,"[BLC-PMG, Baraitser-Brett-Piesowicz syndrome, Baraitser-Reardon syndrome, Bilateral band-like calcification with polymicrogyria, Microcephaly-intracranial calcification-intellectual disability syndrome, Pseudo-TORCH syndrome]","Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.",[251290],,,,,Congenital intrauterine infection-like syndrome,TRUE,FALSE,Active +GARD:12427,Legacy,GARD,,,,,,,,,,,,Systemic sclerosis ,TRUE,FALSE,Retired +GARD:12428,Active,Orphanet,ORPHA:280779,Disorder,[Disease],Cutaneous collagenous vasculopathy,[CCV],"Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.",,,,,,Cutaneous collagenous vasculopathy,TRUE,FALSE,Active +GARD:12429,Active,Orphanet,ORPHA:228174,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2N,[CMT2N],"A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.",[613287],,,,,Charcot-Marie-Tooth disease type 2N,TRUE,FALSE,Active +GARD:1243,Active,Orphanet,ORPHA:101076,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 2,[CMTX2],"X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.",[302801],,,,,X-linked Charcot-Marie-Tooth disease type 2,TRUE,FALSE,Active +GARD:12430,Legacy,GARD,,,,,,,,,,,,CREST syndromes,TRUE,FALSE,Retired +GARD:12431,Active,Orphanet,ORPHA:64746,Group of disorders,[Clinical group],Autosomal dominant Charcot-Marie-Tooth disease type 2,"[Autosomal dominant axonal Charcot-Marie-Tooth disease, CMT2, Hereditary motor and sensory neuropathy type 2]",,,,,,,Charcot-Marie-Tooth disease type 2,TRUE,FALSE,Active +GARD:12432,Active,Orphanet,ORPHA:99945,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2L,[CMT2L],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.",[608673],,,,,Charcot-Marie-Tooth disease type 2L,TRUE,FALSE,Active +GARD:12433,Active,Orphanet,ORPHA:65753,Group of disorders,[Clinical group],Charcot-Marie-Tooth disease type 1,"[Autosomal dominant demyelinating Charcot-Marie-Tooth disease, CMT1, Charcot-Marie-Tooth neuropathy type 1, Hereditary motor and sensory neuropathy type 1]","Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.",,,,,,Charcot-Marie-Tooth disease type 1,TRUE,FALSE,Active +GARD:12434,Active,Orphanet,ORPHA:284232,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2O,[CMT2O],"A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.",[614228],,,,,Charcot-Marie-Tooth disease type 2O,TRUE,FALSE,Active +GARD:12435,Active,Orphanet,ORPHA:300319,Disorder,[Disease],Charcot-Marie-Tooth disease type 2P,[CMT2P],"Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.",[614436],,,,,Charcot-Marie-Tooth disease type 2P,TRUE,FALSE,Active +GARD:12436,Active,Orphanet,ORPHA:90114,Group of disorders,[Clinical group],Autosomal dominant intermediate Charcot-Marie-Tooth disease,[CMTDI],,,,,,,Autosomal dominant intermediate Charcot-Marie-Tooth,TRUE,FALSE,Active +GARD:12437,Active,Orphanet,ORPHA:100043,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,[CMTDIA],"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.",[606483],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,TRUE,FALSE,Active +GARD:12438,Active,Orphanet,ORPHA:100044,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,[CMTDIB],"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.",[606482],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,TRUE,FALSE,Active +GARD:12439,Active,Orphanet,ORPHA:100045,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,[CMTDIC],"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.",[608323],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,TRUE,FALSE,Active +GARD:1244,Active,Orphanet,ORPHA:101077,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 3,"[CMT3X, CMTX3]","X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.",[302802],,,,,X-linked Charcot-Marie-Tooth disease type 3,TRUE,FALSE,Active +GARD:12440,Active,Orphanet,ORPHA:64749,Group of disorders,[Clinical group],Charcot-Marie-Tooth disease type 4,"[AR-CMT1, Autosomal recessive demyelinating Charcot-Marie-Tooth, CMT4]",A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.,,,,,,Charcot-Marie-Tooth disease type 4,TRUE,FALSE,Active +GARD:12441,Active,Orphanet,ORPHA:99952,Disorder,[Disease],Charcot-Marie-Tooth disease type 4F,[CMT4F],"Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.",[614895],,,,,Charcot-Marie-Tooth disease type 4F,TRUE,FALSE,Active +GARD:12442,Active,Orphanet,ORPHA:99954,Disorder,[Disease],Charcot-Marie-Tooth disease type 4H,[CMT4H],"Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.",[609311],,,,,Charcot-Marie-Tooth disease type 4H,TRUE,FALSE,Active +GARD:12443,Active,Orphanet,ORPHA:139515,Disorder,[Disease],Charcot-Marie-Tooth disease type 4J,[CMT4J],"Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.",[611228],,,,,Charcot-Marie-Tooth disease type 4J,TRUE,FALSE,Active +GARD:12444,Active,Orphanet,ORPHA:64747,Group of disorders,[Clinical group],X-linked Charcot-Marie-Tooth disease,"[CMTX, X-linked hereditary motor and sensory neuropathy]",A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.,,,,,,X-linked Charcot-Marie-Tooth disease,TRUE,FALSE,Active +GARD:12445,Active,Orphanet,ORPHA:352675,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 6,"[CMT6X, CMTX6]","X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).",[300905],,,,,X-linked Charcot-Marie-Tooth disease type 6,TRUE,FALSE,Active +GARD:12446,Active,Orphanet,ORPHA:329258,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2Q,[CMT2Q],"A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.",[615025],,,,,Charcot-Marie-Tooth disease type 2Q,TRUE,FALSE,Active +GARD:12447,Active,Orphanet,ORPHA:401964,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,"[Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons, CMT2 with giant axons, HMSN2 with giant axons]","A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.",[610100],,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,TRUE,FALSE,Active +GARD:12448,Active,Orphanet,ORPHA:101097,Disorder,[Disease],Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,"[ARCMT2K, Autosomal recessive axonal CMT4C4, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K]","A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.","[607706, 607831]",,,,,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,TRUE,FALSE,Active +GARD:12449,Active,Orphanet,ORPHA:91024,Group of disorders,[Clinical group],Autosomal recessive axonal hereditary motor and sensory neuropathy,"[AR-CMT2, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2]",,,,,,,Autosomal recessive axonal Charcot-Marie-Tooth disease type 2,TRUE,FALSE,Retired +GARD:1245,Active,Orphanet,ORPHA:101081,Disorder,[Disease],Charcot-Marie-Tooth disease type 1A,"[CMT1A, Microduplication 17p12]",,[118220],,,,,Charcot-Marie-Tooth disease type 1A,TRUE,FALSE,Active +GARD:12451,Active,Orphanet,ORPHA:397968,Disorder,[Disease],Charcot-Marie-Tooth disease type 2R,[CMT2R],"Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.",[615490],,,,,Charcot-Marie-Tooth disease type 2R,TRUE,FALSE,Active +GARD:12452,Active,Orphanet,ORPHA:268337,Group of disorders,[Clinical group],Autosomal recessive intermediate Charcot-Marie-Tooth disease,[RI-CMT],,,,,,,Autosomal recessive intermediate Charcot-Marie-Tooth disease ,TRUE,FALSE,Active +GARD:12453,Active,Orphanet,ORPHA:217055,Disorder,[Disease],Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,[RI-CMT type A],"A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.",[608340],,,,,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,TRUE,FALSE,Active +GARD:12454,Active,Orphanet,ORPHA:254334,Disorder,[Disease],Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,[RI-CMT type B],"An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.",[613641],,,,,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,TRUE,FALSE,Active +GARD:12455,Legacy,GARD,,,,,,,,,,,,Hemoglobinopathy,FALSE,FALSE,Active +GARD:12456,Legacy,GARD,,,,,,,,,,,,Sickle cell disease and related disorders,FALSE,FALSE,Active +GARD:12457,Legacy,GARD,,,,,,,,,,,,Hereditary persistence of fetal hemoglobin - sickle cell disease,FALSE,FALSE,Active +GARD:12458,Active,Orphanet,ORPHA:251370,Disorder,[Disease],Sickle cell-hemoglobin D disease syndrome,[HbSD disease],"A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.",,,,,,Sickle cell - hemoglobin D disease,TRUE,FALSE,Active +GARD:12459,Active,Orphanet,ORPHA:251355,Group of disorders,[Category],Sickle cell disease associated with another hemoglobin anomaly,[Double heterozygotes sickling disorder],,,,,,,Sickle cell disease associated with an other hemoglobin anomaly,TRUE,FALSE,Active +GARD:1246,Active,Orphanet,ORPHA:101082,Disorder,[Disease],Charcot-Marie-Tooth disease type 1B,[CMT1B],"Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.",[118200],,,,,Charcot-Marie-Tooth disease type 1B,TRUE,FALSE,Active +GARD:12460,Legacy,GARD,,,,,,,,,,,,Postaxial polydactyly of the fingers,FALSE,FALSE,Active +GARD:12461,Legacy,GARD,,,,,,,,,,,,Breast cancer,FALSE,FALSE,Draft +GARD:12462,Legacy,GARD,,,,,,,,,,,,Síndrome de Goldenhar ,TRUE,TRUE,Active +GARD:12464,Legacy,GARD,,,,,,,,,,,,Hyperinsulinemia,FALSE,FALSE,Retired +GARD:12465,Legacy,GARD,,,,,,,,,,,,Thrombotic Microangiopathy,FALSE,FALSE,Active +GARD:12467,Legacy,GARD,,,,,,,,,,,,Fibrosis quística,TRUE,TRUE,Active +GARD:12468,Legacy,GARD,,,,,,,,,,,,Heterotopía periventricular nodular ligada al cromosoma X,TRUE,TRUE,Active +GARD:12469,Active,Orphanet,ORPHA:35706,Disorder,[Disease],Glutaric acidemia type 3,"[Glutaric aciduria type 3, Glutaryl-CoA oxidase deficiency]",A rare inborn error of metabolism characterized by abnormally high urinary excretion of glutaric acid due to peroxisomal glutaryl-CoA oxidase deficiency. There is no association with a specific clinical phenotype.,[231690],,,,,Glutaric acidemia type III,TRUE,FALSE,Active +GARD:1247,Active,Orphanet,ORPHA:101083,Disorder,[Disease],Charcot-Marie-Tooth disease type 1C,[CMT1C],"A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.",[601098],,,,,Charcot-Marie-Tooth disease type 1C,TRUE,FALSE,Active +GARD:12470,Active,Orphanet,ORPHA:79188,Group of disorders,[Category],Peroxisomal beta-oxidation disorder,,,,,,,,Peroxisomal beta-oxidation disorder,TRUE,FALSE,Active +GARD:12471,Active,Orphanet,ORPHA:163684,Disorder,[Disease],Leukoencephalopathy-dystonia-motor neuropathy syndrome,,"Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.",[613724],,,,,Leukoencephalopathy - dystonia - motor neuropathy ,TRUE,FALSE,Active +GARD:12472,Active,Orphanet,ORPHA:369942,Disorder,[Disease],CADDS,"[Contiguous ABCD1 DXS1357E deletion syndrome, Zellweger-like contiguous gene deletion syndrome]","CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).",[300475],,,,,"Deafness, dystonia, and cerebral hypomyelination ",TRUE,FALSE,Active +GARD:12473,Legacy,GARD,,,,,,,,,,,,Ehlers-Danlos syndrome with periventricular heterotopia,TRUE,FALSE,Retired +GARD:12474,Active,Orphanet,ORPHA:75392,Disorder,[Disease],Periodontal Ehlers-Danlos syndrome,"[EDS VIII, Ehlers-Danlos syndrome type 8, Ehlers-Danlos syndrome, periodontitis type, Periodontal EDS, pEDS]","A rare type of Ehlers-Danlos syndrome characterized by childhood or adolescence onset of severe, intractable periodontitis, lack of attached gingiva, and presence of pretibial plaques. Additional manifestations are easy bruising, hypermobility mainly of the distal joints, skin hyperextensibility and fragility, abnormal scarring, recurrent infections, hernias, marfanoid facial features, acrogeria, and prominent vasculature.","[130080, 617174]",,,,,Periodontal Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:12475,Legacy,GARD,,,,,,,,,,,,GERD,FALSE,FALSE,Retired +GARD:12476,Active,Orphanet,ORPHA:309810,Group of disorders,[Category],"Disorder of peroxisomal alpha-, beta- and omega-oxidation",,,,,,,,"Disorder of peroxisomal alpha-, beta- and omega-oxidation",TRUE,FALSE,Active +GARD:12477,Legacy,GARD,,,,,,,,,,,,Disorders with deficiency of a single peroxisomal enzyme,TRUE,FALSE,Active +GARD:12478,Active,Orphanet,ORPHA:36355,Disorder,[Disease],Bleeding disorder due to P2Y12 defect,[Bleeding disorder due to ADP platelet receptor P2Y12 defect],"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.",[609821],,,,,Bleeding disorder due to P2RY12 defect,TRUE,FALSE,Active +GARD:12479,Legacy,GARD,,,,,,,,,,,,Supernumerary teeth,FALSE,FALSE,Draft +GARD:1248,Active,Orphanet,ORPHA:99946,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2A1,[CMT2A1],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, presenting with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.",[118210],,,,,Charcot-Marie-Tooth disease type 2A,TRUE,FALSE,Active +GARD:12480,Active,Orphanet,ORPHA:96055,Disorder,[Malformation syndrome],Tetrasomy 21,[Isochromosome 21],"Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.",,,,,,Tetrasomy 21,TRUE,FALSE,Active +GARD:12482,Legacy,GARD,,,,,,,,,,,,Hepatic mesenchymal hamartoma,FALSE,FALSE,Draft +GARD:12483,Active,Orphanet,ORPHA:99098,Disorder,[Morphological anomaly],Cor triatriatum dexter,"[Cor triatriatum dextrum, Divided right atrium]","A rare, congenital, non-syndromic, heart malformation characterized by the persistence of the embryonic right valve of the sinus venosus which results in a subdivision of right atrium into two chambers. Clinical manifestations depend on the degree of right atrial septation and the size of sinoatrial orifice and vary from asymptomatic to symptoms of tricuspid valve stenosis, atrial fibrillation, cyanosis, syncope, elevated central venous pressure and right heart failure. The anomaly may be isolated or associated with other congenital heart anomalies.",,,,,,Cor triatriatum dexter,TRUE,FALSE,Active +GARD:12484,Active,Orphanet,ORPHA:99099,Disorder,[Morphological anomaly],Cor triatriatum sinister,"[Cor triatriatum sinistrum, Divided left atrium]","A rare, congenital, non-syndromic, heart malformation characterized by the presence of a thin, fibromuscular membrane subdividing the left atrium into an upper and lower chamber. The upper chamber receives blood from the pulmonary veins and the lower chamber is attached to the left atrial appendage. Therefore, the membrane blocks the orifice of the mitral valve and leads to obstruction of the left ventricular inflow. It may be asymptomatic or present in infancy with tachypnea, dyspnea, hemoptysis, chest pain, syncope, pulmonary edema, pulmonary hypertension, or heart failure, depending on the degree of obstruction. The anomaly may be isolated or associated with other congenital heart anomalies.",,,,,,Cor triatriatum sinister,TRUE,FALSE,Active +GARD:12485,Legacy,GARD,,,,,,,,,,,,Syndrome with corpus callosum agenesis /dysgenesis as a major feature,FALSE,FALSE,Draft +GARD:12486,Active,Orphanet,ORPHA:52055,Disorder,[Malformation syndrome],Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,[Graham-Cox syndrome],"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.",[300472],,,,,Graham-Cox syndrome,TRUE,FALSE,Active +GARD:12487,Active,Orphanet,ORPHA:1495,Disorder,[Malformation syndrome],Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,[Da Silva syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others.",,,,,,Intellectual disability - hypoplastic corpus callosum - preauricular tag,TRUE,FALSE,Active +GARD:12488,Legacy,GARD,,,,,,,,,,,,White matter hypoplasia - corpus callosum agenesis - intellectual disability,FALSE,FALSE,Retired +GARD:12489,Legacy,GARD,,,,,,,,,,,,X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis,TRUE,FALSE,Active +GARD:1249,Active,Orphanet,ORPHA:101101,Disorder,[Disease],Charcot-Marie-Tooth disease type 2B2,"[AR-CMT2B2, Autosomal recessive axonal CMT4C3, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2]","Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.",[605589],,,,,Charcot-Marie-Tooth disease type 2B2,TRUE,FALSE,Active +GARD:12491,Active,Orphanet,ORPHA:452,Disorder,[Malformation syndrome],X-linked lissencephaly with abnormal genitalia,"[X-linked lissencephaly with ambiguous genitalia, X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome, XLAG (X-linked lissencephaly with abnormal genitalia) syndrome]","X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.",[300215],,,,,X-linked lissencephaly with abnormal genitalia,TRUE,FALSE,Active +GARD:12492,Active,Orphanet,ORPHA:261295,Disorder,[Malformation syndrome],20p12.3 microdeletion syndrome,"[Del(20)(p12.3), Monosomy 20p12.3]","20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.",,,,,,20p12.3 microdeletion syndrome,TRUE,FALSE,Active +GARD:12493,Legacy,GARD,,,,,,,,,,,,11p11.2 duplication,FALSE,FALSE,Draft +GARD:12494,Active,Orphanet,ORPHA:178345,Disorder,[Disease],Aromatase excess syndrome,"[AEXS, Familial hyperestrogenism, Hereditary prepubertal gynecomastia]","A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.",[139300],,,,,Aromatase excess syndrome,TRUE,FALSE,Active +GARD:12495,Legacy,GARD,,,,,,,,,,,,ctest,FALSE,FALSE,Retired +GARD:12496,Legacy,GARD,,,,,,,,,,,,gastric fundal diverticulum,FALSE,FALSE,Draft +GARD:12497,Legacy,GARD,,,,,,,,,,,,Follicular mucinosis,FALSE,FALSE,Draft +GARD:12498,Legacy,GARD,,,,,,,,,,,,Pseudohipoparatiroidismo,TRUE,TRUE,Active +GARD:12499,Legacy,GARD,,,,,,,,,,,,Obsessive-compulsive disorder ,FALSE,FALSE,Draft +GARD:125,Active,Orphanet,ORPHA:38,Disorder,[Disease],Acrokeratoelastoidosis of Costa,"[AKE, PPKP3, Punctate palmoplantar hyperkeratosis type 3, Punctate palmoplantar keratoderma type 3]","A rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later",[101850],,,,,Acrokeratoelastoidosis of Costa,TRUE,FALSE,Active +GARD:1250,Active,Orphanet,ORPHA:99937,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2C,[CMT2C],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.",[606071],,,,,Charcot-Marie-Tooth disease type 2C,TRUE,FALSE,Active +GARD:12500,Legacy,GARD,,,,,,,,,,,,Síndrome de Aicardi ,TRUE,TRUE,Active +GARD:12501,Active,Orphanet,ORPHA:391372,Disorder,[Malformation syndrome],Intellectual disability-severe speech delay-mild dysmorphism syndrome,[FOXP1 syndrome],"Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.",[613670],,,,,Intellectual disability-severe speech delay-mild dysmorphism syndrome ,TRUE,FALSE,Active +GARD:12502,Active,Orphanet,ORPHA:171709,Subtype of disorder,[Clinical subtype],Male infertility due to globozoospermia,"[Male infertility due to round-headed spermatozoa, Round-headed sperm syndrome]","Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent.","[102530, 613958]",,,,,Globozoospermia,TRUE,FALSE,Active +GARD:12503,Active,Orphanet,ORPHA:309252,Subtype of disorder,[Clinical subtype],Atypical Gaucher disease due to saposin C deficiency,,,[610539],,,,,Atypical Gaucher disease due to saposin C deficiency,TRUE,FALSE,Active +GARD:12504,Active,Orphanet,ORPHA:2072,Subtype of disorder,[Clinical subtype],Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,"[Cardiovascular Gaucher disease, Gaucher disease type 3C, Gaucher-like disease]","Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.",[231005],,,,,Gaucher disease - ophthalmoplegia - cardiovascular calcification,TRUE,FALSE,Active +GARD:12505,Active,Orphanet,ORPHA:139406,Disorder,[Disease],Encephalopathy due to prosaposin deficiency,[Combined prosaposin deficiency],A lysosomal storage disease belonging to the group of sphingolipidoses.,[611721],,,,,Encephalopathy due to prosaposin deficiency,TRUE,FALSE,Active +GARD:12506,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis,TRUE,TRUE,Active +GARD:12507,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis tipo 1 ,TRUE,TRUE,Active +GARD:12508,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis tipo 2,TRUE,TRUE,Active +GARD:12509,Legacy,GARD,,,,,,,,,,,,Schwannomatosis,TRUE,TRUE,Active +GARD:1251,Active,Orphanet,ORPHA:99938,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2D,[CMT2D],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.",[601472],,,,,Charcot-Marie-Tooth disease type 2D,TRUE,FALSE,Active +GARD:12510,Active,Orphanet,ORPHA:309144,Group of disorders,[Category],Gangliosidosis,,,,,,,,Gangliosidosis,TRUE,FALSE,Active +GARD:12511,Active,Orphanet,ORPHA:79204,Group of disorders,[Category],Lipid storage disease,,,,,,,,Lipid storage disease,TRUE,FALSE,Draft +GARD:12512,Legacy,GARD,,,,,,,,,,,,Male infertility with spermatogenesis disorder,FALSE,FALSE,Draft +GARD:12513,Active,Orphanet,ORPHA:399786,Group of disorders,[Category],Male infertility with spermatogenesis disorder due to single gene mutation,,,,,,,,Male infertility with spermatogenesis disorder due to single gene mutation ,TRUE,FALSE,Active +GARD:12514,Legacy,GARD,,,,,,,,,,,,Male infertility with teratozoospermia due to single gene mutation,FALSE,FALSE,Active +GARD:12515,Legacy,GARD,,,,,,,,,,,,Male infertility with azoospermia or oligozoospermia due to single gene mutation ,FALSE,FALSE,Draft +GARD:12516,Legacy,GARD,,,,,,,,,,,,Pernicious anemias,FALSE,FALSE,Retired +GARD:12517,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos tipo hipermóvil,TRUE,TRUE,Active +GARD:12518,Legacy,GARD,,,,,,,,,,,,Encefalopatía por glicina,TRUE,TRUE,Active +GARD:1252,Active,Orphanet,ORPHA:99948,Disorder,[Disease],Charcot-Marie-Tooth disease type 4A,[CMT4A],"Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.",[214400],,,,,Charcot-Marie-Tooth disease type 4A,TRUE,FALSE,Active +GARD:12521,Active,Orphanet,ORPHA:284264,Group of disorders,[Clinical group],IgG4-related disease,"[IgG4-related sclerosing disease, Immunoglobulin G4-related sclerosing disease]",,,,,,,IgG4-related disease ,TRUE,FALSE,Active +GARD:12522,Legacy,GARD,,,,,,,,,,,,Enterovesical fistula,TRUE,FALSE,Active +GARD:12523,Legacy,GARD,,,,,,,,,,,,Distrofia miotónica tipo 1,TRUE,TRUE,Active +GARD:12524,Active,Orphanet,ORPHA:275543,Disorder,[Malformation syndrome],L1 syndrome,"[CRASH syndrome, Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome, L1CAM syndrome]","A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.","[303350, 307000, 304100]",,,,,L1 syndrome,TRUE,FALSE,Active +GARD:12525,Active,Orphanet,ORPHA:306617,Subtype of disorder,[Clinical subtype],X-linked complicated spastic paraplegia type 1,[SPG1],"A congenital, X-linked, clinical subtype of L1 syndrome, characterized by spastic paraplegia, mild to moderate intellectual disability and normal brain morphology. This subtype represents the milder end of the L1 syndrome spectrum.",,,,,,X-linked complicated spastic paraplegia type 1,TRUE,FALSE,Active +GARD:12526,Active,Orphanet,ORPHA:1497,Subtype of disorder,[Clinical subtype],X-linked complicated corpus callosum dysgenesis,,"A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual disability, and dysplasia, hypoplasia or aplasia of the corpus callosum. In this subtype hydrocephalus, adducted thumbs, or absent speech are not observed.",[304100],,,,,X-linked complicated corpus callosum agenesis,TRUE,FALSE,Active +GARD:12527,Legacy,GARD,,,,,,,,,,,,Limb-girdle muscular dystrophy type 1C,TRUE,FALSE,Active +GARD:12528,Active,Orphanet,ORPHA:34516,Disorder,[Disease],DNAJB6-related limb-girdle muscular dystrophy D1,"[Autosomal dominant limb-girdle muscular dystrophy type 1D, DNAJB6-related LGMD D1, LGMD type 1D, LGMD1D, Limb-girdle muscular dystrophy type 1D]","A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.",[603511],,,,,Limb-girdle muscular dystrophy type 1D,TRUE,FALSE,Active +GARD:12529,Legacy,GARD,,,,,,,,,,,,Limb-girdle muscular dystrophy type 1E,TRUE,FALSE,Active +GARD:1253,Active,Orphanet,ORPHA:99955,Disorder,[Disease],Charcot-Marie-Tooth disease type 4B1,[CMT4B1],"Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).",[601382],,,,,Charcot-Marie-Tooth disease type 4B1,TRUE,FALSE,Active +GARD:12530,Active,Orphanet,ORPHA:55595,Disorder,[Disease],TNP03-related limb-girdle muscular dystrophy D2,"[Autosomal dominant limb-girdle muscular dystrophy type 1F, LGMD type 1F, LGMD1F, Limb-girdle muscular dystrophy type 1F]","A rare subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.",[608423],,,,,Limb-girdle muscular dystrophy type 1F,TRUE,FALSE,Active +GARD:12531,Active,Orphanet,ORPHA:55596,Disorder,[Disease],HNRNPDL-related limb-girdle muscular dystrophy D3,"[Autosomal dominant limb-girdle muscular dystrophy type 1G, HNRNPDL-related LGMD D3, LGMD type 1G, LGMD1G, Limb-girdle muscular dystrophy type 1G]","A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.",[609115],,,,,Limb-girdle muscular dystrophy type 1G,TRUE,FALSE,Active +GARD:12532,Active,Orphanet,ORPHA:238755,Disorder,[Disease],Autosomal dominant limb-girdle muscular dystrophy type 1H,[LGMD1H],"A rare subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.",[613530],,,,,Limb-girdle muscular dystrophy type 1H,TRUE,FALSE,Active +GARD:12533,Active,Orphanet,ORPHA:34515,Disorder,[Disease],FKRP-related limb-girdle muscular dystrophy R9,"[Autosomal recessive limb-girdle muscular dystrophy type 2I, FKRP-related LGMD R9, LGMD due to FKRP deficiency, LGMD type 2I, LGMD2I, Limb-girdle muscular dystrophy due to FKRP deficiency, Limb-girdle muscular dystrophy type 2I]","A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels.",[607155],,,,,Limb-girdle muscular dystrophy type 2I,TRUE,FALSE,Active +GARD:12534,Active,Orphanet,ORPHA:140922,Disorder,[Disease],Titin-related limb-girdle muscular dystrophy R10,"[Autosomal recessive limb-girdle muscular dystrophy type 2J, LGMD type 2J, LGMD2J, Limb-girdle muscular dystrophy type 2J, Titin-related LGMD R10]","A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.",[608807],,,,,Limb-girdle muscular dystrophy type 2J,TRUE,FALSE,Active +GARD:12535,Active,Orphanet,ORPHA:86812,Disorder,[Disease],POMT1-related limb-girdle muscular dystrophy R11,"[Autosomal recessive limb-girdle muscular dystrophy type 2K, LGMD type 2K, LGMD2K, Limb-girdle muscular dystrophy type 2K, Limb-girdle muscular dystrophy-intellectual disability syndrome, POMT1-related LGMD R11]","A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.",[609308],,,,,Limb-girdle muscular dystrophy type 2K,TRUE,FALSE,Active +GARD:12536,Active,Orphanet,ORPHA:206549,Disorder,[Disease],Anoctamin-5-related limb-girdle muscular dystrophy R12,"[Anoctamin-5-related LGMD R12, Autosomal recessive limb-girdle muscular dystrophy type 2L, LGMD type 2L, LGMD2L, Limb-girdle muscular dystrophy type 2L]","A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.",[611307],,,,,Limb-girdle muscular dystrophy type 2L,TRUE,FALSE,Active +GARD:12537,Legacy,GARD,,,,,,,,,,,,Fistula enterovesical ,TRUE,TRUE,Active +GARD:12538,Active,Orphanet,ORPHA:206554,Disorder,[Disease],Fukutin-related limb-girdle muscular dystrophy R13,"[Autosomal recessive LGMD type 2M, Autosomal recessive limb-girdle muscular dystrophy type 2M, Fukutin-related LGMD R13, LGMD type 2M, LGMD2M]","A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.",[611588],,,,,Limb-girdle muscular dystrophy type 2M,TRUE,FALSE,Active +GARD:12539,Active,Orphanet,ORPHA:206559,Disorder,[Disease],POMT2-related limb-girdle muscular dystrophy R14,"[Autosomal recessive limb-girdle muscular dystrophy type 2N, LGMD type 2N, LGMD2N, Limb-girdle muscular dystrophy type 2N, POMT2-related LGMD R14]","A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).",[613158],,,,,Limb-girdle muscular dystrophy type 2N,TRUE,FALSE,Active +GARD:1254,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease dominant intermediate 1,TRUE,FALSE,Retired +GARD:12540,Active,Orphanet,ORPHA:206564,Disorder,[Disease],POMGNT1-related limb-girdle muscular dystrophy R15,"[Autosomal recessive limb-girdle muscular dystrophy type 2O, LGMD type 2O, LGMD2O, Limb-girdle muscular dystrophy type 2O, POMGNT1-related LGMD R15]","A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.",[613157],,,,,Limb-girdle muscular dystrophy type 2O,TRUE,FALSE,Active +GARD:12541,Active,Orphanet,ORPHA:280333,Disorder,[Disease],Alpha-dystroglycan-related limb-girdle muscular dystrophy R16,"[Alpha-dystroglycan-related LGMD R16, Autosomal recessive limb-girdle muscular dystrophy type 2P, LGMD type 2P, LGMD2P, Limb-girdle muscular dystrophy type 2P]","A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.",[613818],,,,,Limb-girdle muscular dystrophy type 2P,TRUE,FALSE,Active +GARD:12542,Active,Orphanet,ORPHA:254361,Disorder,[Disease],Plectin-related limb-girdle muscular dystrophy R17,"[Autosomal recessive limb-girdle muscular dystrophy type 2Q, LGMD type 2Q, LGMD2Q, Limb-girdle muscular dystrophy type 2Q, Plectin-related LGMD R17]",A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.,[613723],,,,,Limb-girdle muscular dystrophy type 2Q ,TRUE,FALSE,Active +GARD:12543,Active,Orphanet,ORPHA:369840,Disorder,[Disease],TRAPPC11-related limb-girdle muscular dystrophy R18,"[Autosomal recessive limb-girdle muscular dystrophy type 2S, LGMD type 2S, LGMD2S, Limb-girdle muscular dystrophy type 2S, TRAPPC11-related LGMD R18]","A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.",[615356],,,,,Limb-girdle muscular dystrophy type 2S,TRUE,FALSE,Active +GARD:12544,Active,Orphanet,ORPHA:363623,Disorder,[Disease],GMPPB-related limb-girdle muscular dystrophy R19,"[Autosomal recessive limb-girdle muscular dystrophy type 2T, GMPPB-related LGMD R19, LGMD type 2T, LGMD2T, Limb-girdle muscular dystrophy type 2T]","A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.",[615352],,,,,Limb-girdle muscular dystrophy type 2T,TRUE,FALSE,Active +GARD:12545,Legacy,GARD,,,,,,,,,,,,Ocular albinism,FALSE,FALSE,Draft +GARD:12546,Legacy,GARD,,,,,,,,,,,,Influenza,FALSE,FALSE,Draft +GARD:12547,Active,Orphanet,ORPHA:331235,Disorder,[Disease],Selective IgM deficiency,[Selective immunoglobulin M deficiency],"A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased.",,,,,,Selective IgM deficiency,TRUE,FALSE,Active +GARD:12548,Legacy,GARD,,,,,,,,,,,,Mucolipidosis,FALSE,FALSE,Draft +GARD:12549,Legacy,GARD,,,,,,,,,,,,Convergence insufficiency,FALSE,FALSE,Draft +GARD:1255,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease neuronal type A,TRUE,FALSE,Retired +GARD:12550,Active,Orphanet,ORPHA:289465,Disorder,[Disease],Isolated congenital adermatoglyphia,"[Congenital absence of fingerprints, Immigration delay disease]","Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.",[136000],,,,,Adermatoglyphia,TRUE,FALSE,Active +GARD:12551,Active,Orphanet,ORPHA:238722,Disorder,[Disease],Familial congenital mirror movements,"[Familial congenital controlateral synkinesia, Hereditary congenital controlateral synkinesia, Hereditary congenital mirror movements, Isolated congenital controlateral synkinesia, Isolated congenital mirror movements]","A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities.","[618264, 614508, 157600, 616059]",,,,,Congenital mirror movement disorder,TRUE,FALSE,Active +GARD:12552,Legacy,GARD,,,,,,,,,,,,Spinal Cord Injury,FALSE,FALSE,Draft +GARD:12554,Legacy,GARD,,,,,,,,,,,,Síndrome cardio-facio-cutáneo ,TRUE,TRUE,Active +GARD:12555,Legacy,GARD,,,,,,,,,,,,Colon cancer,FALSE,FALSE,Draft +GARD:12556,Active,Orphanet,ORPHA:631,Disorder,[Disease],Non-acquired isolated growth hormone deficiency,"[Congenital IGHD, Congenital isolated GH deficiency, Congenital isolated growth hormone deficiency]","A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature.","[300123, 612781, 262650, 173100, 262400, 307200]",,,,,Isolated growth hormone deficiency,TRUE,FALSE,Active +GARD:12557,Legacy,GARD,,,,,,,,,,,,Déficit de la hormona de crecimiento,TRUE,TRUE,Active +GARD:12558,Active,Orphanet+OMIM,OMIM:612621,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 5","[Mental retardation, autosomal dominant 5]","Intellectual developmental disorder-5 (MRD5) is characterized by moderately to severely impaired intellectual development with delayed psychomotor development apparent in the first years of life. Most patients develop variable types of seizures, some have autism or autism spectrum disorder (see {209850}), and some have acquired microcephaly (summary by {1:Berryer et al., 2013}).",[612621],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,SYNGAP1-related non-syndromic intellectual disability,TRUE,FALSE,Active +GARD:12559,Active,Orphanet,ORPHA:93473,Subtype of disorder,[Clinical subtype],Hurler syndrome,"[Hurler disease, MPS1H, MPSIH, Mucopolysaccharidosis type 1H, Mucopolysaccharidosis type IH]","Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.",[607014],,,,,Hurler syndrome,TRUE,FALSE,Active +GARD:1256,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease neuronal type B,TRUE,FALSE,Retired +GARD:12560,Active,Orphanet,ORPHA:93476,Subtype of disorder,[Clinical subtype],Hurler-Scheie syndrome,"[MPS1H/S, MPSIH/S, Mucopolysaccharidosis type 1H/S, Mucopolysaccharidosis type IH/S]","Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.",[607015],,,,,Hurler–Scheie syndrome ,TRUE,FALSE,Active +GARD:12561,Active,Orphanet,ORPHA:93474,Subtype of disorder,[Clinical subtype],Scheie syndrome,"[MPS1S, MPSIS, Mucopolysaccharidosis type 1S, Mucopolysaccharidosis type IS]","Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.",[607016],,,,,Scheie syndrome ,TRUE,FALSE,Active +GARD:12562,Active,Orphanet,ORPHA:582,Disorder,[Disease],Mucopolysaccharidosis type 4,"[MPS4, MPSIV, Morquio disease, Mucopolysaccharidosis type IV]","A rare lysosomal storage disease characterized by mild to severe spondylo-epiphyso-metaphyseal dysplasia, manifesting with disproportionate short stature (short neck and trunk), joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities (kyphosis and scoliosis), respiratory impairment and valvular heart disease.","[252300, 253000, 253010]",,,,,Mucopolysaccharidosis type IV,TRUE,FALSE,Active +GARD:12563,Legacy,GARD,,,,,,,,,,,,Lymphedema,FALSE,FALSE,Active +GARD:12564,Legacy,GARD,,,,,,,,,,,,Testicular sex cord stromal tumor,FALSE,FALSE,Draft +GARD:12565,Legacy,GARD,,,,,,,,,,,,Hyperhidrosis,FALSE,FALSE,Draft +GARD:12566,Legacy,GARD,,,,,,,,,,,,Hiatal hernia,FALSE,FALSE,Draft +GARD:12567,Active,Orphanet,ORPHA:329303,Group of disorders,[Clinical group],PLA2G6-associated neurodegeneration,[PLAN],,,,,,,PLA2G6-associated neurodegeneration,TRUE,FALSE,Retired +GARD:12568,Active,Orphanet,ORPHA:199351,Disorder,[Disease],Adult-onset dystonia-parkinsonism,"[Dystonia-parkinsonism, Paisan-Ruiz type, PARK14, PLA2G6-related dystonia-parkinsonism]","A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.",[612953],,,,,NBIA/DYT/PARK-PLA2G6,TRUE,FALSE,Active +GARD:12569,Active,Orphanet,ORPHA:289560,Disorder,[Disease],Mitochondrial membrane protein-associated neurodegeneration,"[MPAN, NBIA due to C19orf12 mutation, NBIA4, Neurodegeneration with brain iron accumulation due to C19orf12 mutation, Neurodegeneration with brain iron accumulation type 4]","A rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.",[614298],,,,,Mitochondrial Membrane Protein-Associated Neurodegeneration ,TRUE,FALSE,Active +GARD:1257,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease neuronal type D,TRUE,FALSE,Retired +GARD:12570,Active,Orphanet,ORPHA:329284,Disorder,[Disease],Beta-propeller protein-associated neurodegeneration,"[BPAN, NBIA5, Neurodegeneration with brain iron accumulation type 5, SENDA, Static encephalopathy of childhood with neurodegeneration in adulthood]","Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.",[300894],,,,,Beta-Propeller Protein-Associated Neurodegeneration ,TRUE,FALSE,Active +GARD:12571,Active,Orphanet,ORPHA:397725,Disorder,[Disease],COASY protein-associated neurodegeneration,"[CoPAN, NBIA6, Neurodegeneration with brain iron accumulation due to COASY mutation]","COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.",[615643],,,,,COASY Protein-Associated Neurodegeneration ,TRUE,FALSE,Active +GARD:12572,Legacy,GARD,,,,,,,,,,,,Gamapatía monoclonal de significado incierto ,TRUE,TRUE,Active +GARD:1258,Active,Orphanet,ORPHA:101075,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 1,"[CMT1X, CMTX1]","X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.",[302800],,,,,X-linked Charcot-Marie-Tooth disease type 1,TRUE,FALSE,Active +GARD:12583,Legacy,GARD,,,,,,,,,,,,Progressive muscular dystrophy,FALSE,FALSE,Draft +GARD:12584,Active,Orphanet,ORPHA:370953,Group of disorders,[Category],Congenital muscular dystrophy due to dystroglycanopathy,[CMD due to dystroglycanopathy],,,,,,,Congenital muscular dystrophy due to dystroglycanopathy ,TRUE,FALSE,Active +GARD:12585,Active,Orphanet,ORPHA:157973,Disorder,[Disease],Congenital muscular dystrophy due to LMNA mutation,"[L-CMD, LMNA-related congenital muscular dystrophy]","A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported.",[613205],,,,,Congenital muscular dystrophy due to LMNA mutation,TRUE,FALSE,Active +GARD:12586,Active,Orphanet,ORPHA:98893,Disorder,[Disease],Congenital muscular dystrophy type 1B,"[CMD1B, MDC1B]","Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.",[604801],,,,,Congenital muscular dystrophy type 1B,TRUE,FALSE,Draft +GARD:12587,Active,Orphanet,ORPHA:34520,Disorder,[Disease],Congenital muscular dystrophy with integrin alpha-7 deficiency,[Congenital muscular dystrophy with ITGA7 deficiency],"Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.",[613204],,,,,Congenital muscular dystrophy with integrin alpha-7 deficiency,TRUE,FALSE,Active +GARD:12588,Active,Orphanet,ORPHA:352687,Group of disorders,[Clinical group],Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies,"[Lissencephaly type 2 with muscular and ocular involvement, MDDGA]","Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.",,,,,,Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies,TRUE,FALSE,Active +GARD:12589,Legacy,GARD,,,,,,,,,,,,Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B),TRUE,FALSE,Active +GARD:12590,Active,Orphanet,ORPHA:45358,Disorder,[Disease],Congenital fibrosis of extraocular muscles,[FEOM],"A rare syndromic disorder with strabismus characterized by congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities, among others.","[609384, 602078, 609612, 135700, 600638, 609428]",,,,,Congenital fibrosis of extraocular muscles,TRUE,FALSE,Active +GARD:12591,Active,Orphanet,ORPHA:178464,Disorder,[Disease],Hereditary myopathy with early respiratory failure,"[Edström Myopathy, HIBM-ERF, HMERF, Hereditary inclusion body myopathy with early respiratory failure, MFM-titinopathy, Myofibrillar myopathy with early respiratory failure, Myofibrillar myopathy-titinopathy]","A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles.",[603689],,,,,Hereditary proximal myopathy with early respiratory failure,TRUE,FALSE,Active +GARD:12592,Active,Orphanet,ORPHA:98897,Disorder,[Disease],Oculopharyngodistal myopathy,"[OPDM, Oculopharyngeal distal myopathy]","A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.","[164310, 618940]",,,,,Oculopharyngodistal myopathy,TRUE,FALSE,Active +GARD:12593,Legacy,GARD,,,,,,,,,,,,Déficit aislado de hormona de crecimiento,TRUE,TRUE,Active +GARD:12594,Legacy,GARD,,,,,,,,,,,,Congenital hemifacial hyperplasia,FALSE,FALSE,Draft +GARD:12595,Legacy,GARD,,,,,,,,,,,,Retinopatía de la prematuridad ,TRUE,TRUE,Active +GARD:12596,Active,Orphanet,ORPHA:90970,Group of disorders,[Category],Primary lipodystrophy,,A heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy).,,,,,,Primary lipodystrophy ,TRUE,FALSE,Draft +GARD:12597,Active,Orphanet,ORPHA:98305,Group of disorders,[Category],Genetic lipodystrophy,,,,,,,,Genetic lipodystrophy,TRUE,FALSE,Retired +GARD:12598,Active,Orphanet,ORPHA:79084,Disorder,[Disease],"Familial partial lipodystrophy, Köbberling type","[FPLD1, Familial partial lipodystrophy type 1]","Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.",[608600],,,,,Familial partial lipodystrophy type Köbberling,TRUE,FALSE,Active +GARD:12599,Active,Orphanet,ORPHA:79085,Disorder,[Disease],AKT2-related familial partial lipodystrophy,[AKT2-related FPLD],"A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.",,,,,,Familial partial lipodystrophy due to AKT2 mutations,TRUE,FALSE,Active +GARD:12600,Active,Orphanet,ORPHA:79083,Disorder,[Disease],PPARG-related familial partial lipodystrophy,"[FPLD3, Familial partial lipodystrophy type 3, PPARG-related FPLD]","A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.",[604367],,,,,Familial partial lipodystrophy associated with PPARG mutations,TRUE,FALSE,Active +GARD:12601,Active,Orphanet,ORPHA:280356,Disorder,[Disease],PLIN1-related familial partial lipodystrophy,"[FPLD4, PLIN1-related FPLD]","A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.",[613877],,,,,Familial partial lipodystrophy associated with PLIN1 mutations,TRUE,FALSE,Active +GARD:12602,Active,Orphanet,ORPHA:98307,Group of disorders,[Category],Acquired lipodystrophy,,,,,,,,Acquired lipodystrophy ,TRUE,FALSE,Draft +GARD:12603,Active,Orphanet,ORPHA:79086,Disorder,[Disease],Acquired generalized lipodystrophy,"[Acquired lipoatrophic diabetes, Lawrence syndrome, Lawrence-Seip syndrome]","A rare lipodystrophic syndrome characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).",,,,,,Acquired generalized lipodystrophy,TRUE,FALSE,Active +GARD:12604,Active,Orphanet,ORPHA:1979,Disorder,[Disease],Lipodystrophy due to peptidic growth factors deficiency,"[Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency, Hoepffner-Dreyer-Reimers syndrome, Werner-like syndrome due to combined growth factor deficiency]","A rare genetic lipodystrophy characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus.",[233805],,,,,Lipodystrophy due to peptidic growth factors deficiency,TRUE,FALSE,Retired +GARD:12605,Legacy,GARD,,,,,,,,,,,,Vesicoureteral reflux,FALSE,FALSE,Draft +GARD:12606,Legacy,GARD,,,,,,,,,,,,Out of Scope,FALSE,FALSE,Internal +GARD:12608,Legacy,GARD,,,,,,,,,,,,Genetic diseases,FALSE,FALSE,Internal +GARD:12609,Legacy,GARD,,,,,,,,,,,,Distrofia muscular ,TRUE,TRUE,Active +GARD:1261,Active,Orphanet,ORPHA:1406,Disorder,[Malformation syndrome],Charlie M syndrome,,"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.",,,,,,Charlie M syndrome,TRUE,FALSE,Active +GARD:12610,Active,Orphanet,ORPHA:157965,Subtype of disorder,[Clinical subtype],SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,"[SCD-EDS, SLC39A13-related spEDS, SLC39A13-related spondylodysplastic EDS, Spondylocheirodysplastic Ehlers-Danlos syndrome, spEDS-SLC39A13]","A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature.",[612350],,,,,"Ehlers-Danlos syndrome, spondylocheirodysplastic type",TRUE,FALSE,Retired +GARD:12611,Legacy,GARD,,,,,,,,,,,,Síndrome de Glass-Chapman-Hockley,TRUE,TRUE,Active +GARD:12612,Legacy,GARD,,,,,,,,,,,,Síndrome de Haim-Munk,TRUE,TRUE,Active +GARD:12613,Active,Orphanet,ORPHA:230851,Disorder,[Disease],Cardiac-valvular Ehlers-Danlos syndrome,"[Cardiac-valvular EDS, cvEDS]","A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.",[225320],,,,,Cardiac-Valvular Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:12614,Legacy,GARD,,,,,,,,,,,,Queratodermia palmoplantar,TRUE,TRUE,Active +GARD:12615,Legacy,GARD,,,,,,,,,,,,Síndrome de Papillon-Lefèvre,TRUE,TRUE,Active +GARD:12616,Legacy,GARD,,,,,,,,,,,,Hypophosphatemia,FALSE,FALSE,Draft +GARD:12617,Legacy,GARD,,,,,,,,,,,,Leber's Hereditary Optic Neuropathy,FALSE,FALSE,Draft +GARD:12618,Legacy,GARD,,,,,,,,,,,,Venous angioma,FALSE,FALSE,Draft +GARD:12619,Legacy,GARD,,,,,,,,,,,,Arrhythmia syndrome,FALSE,FALSE,Draft +GARD:12620,Legacy,GARD,,,,,,,,,,,,Branch Retinal Artery Occlusion,FALSE,FALSE,Draft +GARD:12621,Active,Orphanet,ORPHA:369955,Subtype of disorder,[Clinical subtype],"Methylmalonic acidemia with homocystinuria, type cblJ","[CblJ defects, Cobalamin J defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ, Methylmalonic aciduria with homocystinuria, type cblJ]",,[614857],,,,,Methylmalonic acidemia with homocystinuria type cblJ,TRUE,FALSE,Active +GARD:12622,Legacy,GARD,,,,,,,,,,,,Disorders of Intracellular Cobalamin Metabolism,TRUE,FALSE,Draft +GARD:12623,Active,Orphanet,ORPHA:28,Disorder,[Disease],Vitamin B12-responsive methylmalonic acidemia,"[Adenosylcobalamin deficiency, Vitamin B12-responsive methylmalonic aciduria]","An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).","[251110, 277410, 251100]",,,,,Adenosylcobalamin deficiency,TRUE,FALSE,Active +GARD:12624,Legacy,GARD,,,,,,,,,,,,Juvenile xanthogranuloma,FALSE,FALSE,Draft +GARD:12625,Legacy,GARD,,,,,,,,,,,,Chelitis,FALSE,FALSE,Draft +GARD:12627,Legacy,GARD,,,,,,,,,,,,Leucodistrofia metacromática,TRUE,TRUE,Active +GARD:12629,Legacy,GARD,,,,,,,,,,,,Rathke's cleft cyst,FALSE,FALSE,Draft +GARD:12630,Legacy,GARD,,,,,,,,,,,,NOG-related symphalangism spectrum disorder,FALSE,FALSE,Draft +GARD:12631,Active,Orphanet,ORPHA:140917,Disorder,[Malformation syndrome],Stapes ankylosis with broad thumbs and toes,[Teunissen-Cremers syndrome],"Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.",[184460],,,,,Stapes ankylosis with broad thumbs and toes,TRUE,FALSE,Draft +GARD:12632,Active,Orphanet,ORPHA:289573,Group of disorders,[Clinical group],Multiple mitochondrial dysfunctions syndrome,,"Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.",,,,,,Multiple mitochondrial dysfunctions syndrome,TRUE,FALSE,Active +GARD:12633,Legacy,GARD,,,,,,,,,,,,Rare intellectual disability without developmental anomaly,TRUE,FALSE,Active +GARD:12634,Legacy,GARD,,,,,,,,,,,,Acute alcohol sensitivity ,TRUE,FALSE,Active +GARD:12635,Active,Orphanet,ORPHA:2377,Disorder,[Malformation syndrome],Laurence-Moon syndrome,,"A very rare genetic multisystemic disorder characterized by progressive neurological, ophthalmologic and endocrine manifestations leading to severe handicap.",[245800],,,,,Laurence-Moon syndrome,TRUE,FALSE,Active +GARD:12636,Legacy,GARD,,,,,,,,,,,,Laurence Moon syndrome,FALSE,FALSE,Retired +GARD:12637,Legacy,GARD,,,,,,,,,,,,Basilar invagination,FALSE,FALSE,Draft +GARD:12638,Active,Orphanet,ORPHA:183713,Disorder,[Disease],Bacterial susceptibility due to TLR signaling pathway deficiency,,"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.",[612260],,,,,MYD88 deficiency,TRUE,FALSE,Active +GARD:12639,Legacy,GARD,,,,,,,,,,,,Warfarin sensitivity,TRUE,FALSE,Active +GARD:12640,Active,Orphanet,ORPHA:306542,Disorder,[Malformation syndrome],Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,"[ALX1-related frontonasal dysplasia, Frontonasal dysplasia type 3]","Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.",[613456],,,,,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ,TRUE,FALSE,Active +GARD:12641,Active,Orphanet,ORPHA:228390,Disorder,[Malformation syndrome],Frontonasal dysplasia-alopecia-genital anomalies syndrome,"[ALX4-related FNDAG, Craniofrontonasal dysplasia with alopecia and hypogonadism, Frontonasal dysplasia type 2, Frontonasal dysplasia with alopecia and genital abnomality]","A rare syndromic frontonasal dysplasia characterized by frontonasal dysplasia associated with total alopecia, hypogonadism and mild to moderate intellectual disability. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip.",[613451],,,,,Frontonasal dysplasia with alopecia and genital anomaly,TRUE,FALSE,Active +GARD:12642,Active,Orphanet,ORPHA:391474,Disorder,[Malformation syndrome],Frontorhiny,"[ALX3-related frontonasal dysplasia, Frontonasal dysplasia type 1, Isolated median cleft face syndrome]","Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.",[136760],,,,,Frontorhiny,TRUE,FALSE,Active +GARD:12643,Active,Orphanet,ORPHA:294965,Group of disorders,[Clinical group],Lethal congenital contracture syndrome,[LCCS],"A group of rare arthrogryposis syndromes characterized by fetal akinesia, multiple congenital contractures, anterior horn cell degeneration, skeletal muscle atrophy, and other features, depending on the subtype. All types are lethal in the fetal or neonatal period.",,,,,,Lethal congenital contracture syndrome ,TRUE,FALSE,Active +GARD:12644,Active,Orphanet,ORPHA:137783,Disorder,[Malformation syndrome],Lethal congenital contracture syndrome type 3,[LCCS3],"Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.","[614915, 611369]",,,,,Lethal congenital contracture syndrome 3,TRUE,FALSE,Active +GARD:12645,Active,Orphanet+OMIM,OMIM:614915,Subtype of disorder,[Malformation syndrome subtype],Lethal congenital contracture syndrome 4,,,[614915],[137783],[Lethal congenital contracture syndrome type 3],[12644],,Lethal congenital contracture syndrome 4,TRUE,FALSE,Active +GARD:12646,Legacy,GARD,,,,,,,,,,,,Filariasis,FALSE,FALSE,Draft +GARD:12647,Legacy,GARD,,,,,,,,,,,,Herpes simplex virus,FALSE,FALSE,Draft +GARD:12648,Active,Orphanet,ORPHA:91489,Disorder,[Morphological anomaly],Isolated congenital megalocornea,[Congenital anterior megalophthalmia],"Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.",[309300],,,,,Isolated congenital megalocornea,TRUE,FALSE,Active +GARD:12649,Legacy,GARD,,,,,,,,,,,,Malignant melanoma of the mucosa,FALSE,FALSE,Active +GARD:1265,Legacy,GARD,,,,,,,,,,,,Abdominal chemodectomas with cutaneous angiolipomas,TRUE,FALSE,Active +GARD:12650,Active,Orphanet,ORPHA:68,Disorder,[Disease],Amoebiasis due to free-living amoebae,,"A rare parasitic disease caused by free-living amoebae belonging to the Acanthamoeba, Naegleria and Balamuthia genera, that are able to survive in an autonomous state in all natural environments and can also parasitize humans. In immunosuppressed individuals Acanthamoeba genus contamination leads to granulomatous amoebic encephalitis (also reported in association with species of the Balamuthia genus) together with other problems including cardiac, cutaneous and pulmonary manifestations, all of which influence the prognosis. In immunocompetent individuals, the Naegleria fowleri species is responsible for primary amoebic meningoencephalitis, the evolution of which is rapidly fatal.",,,,,,Amoebiasis due to free-living amoebae,TRUE,FALSE,Active +GARD:12651,Legacy,GARD,,,,,,,,,,,,Granulomatous Amebic Encephalitis,TRUE,FALSE,Active +GARD:12652,Active,Orphanet,ORPHA:137898,Disorder,[Disease],Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,"[LBSL, Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome]","This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.",[611105],,,,,Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ,TRUE,FALSE,Active +GARD:12653,Active,Orphanet,ORPHA:447737,Disorder,[Disease],DOCK2 deficiency,,"A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases.",[616433],,,,,DOCK2 Deficiency,TRUE,FALSE,Active +GARD:12654,Legacy,GARD,,,,,,,,,,,,Baylisascaris infection ,TRUE,FALSE,Active +GARD:12655,Legacy,GARD,,,,,,,,,,,,Meningitis,FALSE,FALSE,Draft +GARD:12656,Active,Orphanet,ORPHA:160,Disorder,[Disease],Castleman disease,"[Angiofollicular ganglionic hyperplasia, Angiofollicular lymph hyperplasia]","A benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.",[148000],,,,,Castleman disease,TRUE,FALSE,Active +GARD:12657,Legacy,GARD,,,,,,,,,,,,Mucinous breast cancer,FALSE,FALSE,Draft +GARD:12658,Legacy,GARD,,,,,,,,,,,,Thornwaldt cyst,FALSE,FALSE,Draft +GARD:12659,Legacy,GARD,,,,,,,,,,,,Chromosome 9 Partial Trisomy,FALSE,FALSE,Draft +GARD:1266,Legacy,GARD,,,,,,,,,,,,Ho Kaufman Mcalister syndrome,TRUE,FALSE,Active +GARD:12660,Legacy,GARD,,,,,,,,,,,,Arteriovenous malformation,FALSE,FALSE,Draft +GARD:12661,Legacy,GARD,,,,,,,,,,,,Arteriovenous fistula,FALSE,FALSE,Draft +GARD:12662,Active,Orphanet,ORPHA:141189,Group of disorders,[Clinical group],Cerebrofacial arteriovenous metameric syndrome,[CAMS],"A group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions, with cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (medial prosencephalic group) involving the hypothalamus and nasal region, Wyburn-Mason syndrome (lateral prosencephalic group) involving the occipital lobe, thalamus, and maxilla, and CAMS 3 (lateral rhombencephalic group) involving the cerebellum, pons, and mandible.",,,,,,Cerebrofacial arteriovenous metameric syndrome,TRUE,FALSE,Draft +GARD:12663,Active,Orphanet,ORPHA:156230,Group of disorders,[Clinical group],Facial arteriovenous malformation,,"Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.",,,,,,Facial arteriovenous malformation,TRUE,FALSE,Active +GARD:12664,Active,Orphanet,ORPHA:95699,Disorder,[Disease],Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,"[Congenital adrenal hyperplasia due to cytochrome POR deficiency, POR deficiency, PORD]","A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.",[613571],,,,,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,TRUE,FALSE,Active +GARD:12665,Active,Orphanet,ORPHA:90794,Disorder,[Disease],Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,[Classic 21-OHD CAH],"A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenia.",[201910],,,,,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,TRUE,FALSE,Active +GARD:12666,Legacy,GARD,,,,,,,,,,,,Anemia aplásica ,TRUE,TRUE,Active +GARD:12667,Legacy,GARD,,,,,,,,,,,,Síndrome óculo-cerebro-renal,TRUE,TRUE,Active +GARD:12668,Legacy,GARD,,,,,,,,,,,,Siringomielia,TRUE,TRUE,Active +GARD:12669,Active,Orphanet,ORPHA:163937,Disorder,[Disease],"X-linked intellectual disability, Najm type","[MICPCH, X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome]","Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.",[300749],,,,,"X-linked intellectual disability, Najm type",TRUE,FALSE,Active +GARD:12670,Legacy,GARD,,,,,,,,,,,,CASK-Related Disorders,TRUE,FALSE,Active +GARD:12671,Legacy,GARD,,,,,,,,,,,,Pernicious anemia,FALSE,FALSE,Active +GARD:12672,Legacy,GARD,,,,,,,,,,,,Asociación VACTERL,TRUE,TRUE,Active +GARD:12673,Active,Orphanet,ORPHA:254395,Disorder,[Disease],Actinic lichen planus,"[Actinic LP, Lichen planus actinus, Lichen planus subtropicus, Lichen planus tropicus, Lichenoid melanodermatitis, Summertime actinic lichenoid eruption]",A rare cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.,,,,,,Actinic lichen planus,TRUE,FALSE,Active +GARD:12674,Active,Orphanet,ORPHA:254424,Disorder,[Disease],Annular lichen planus,[Annular LP],A rare variant of cutaneous lichen planus characterized by the development of annular lesions.,,,,,,Annular lichen planus,TRUE,FALSE,Active +GARD:12675,Active,Orphanet,ORPHA:254449,Disorder,[Disease],Atrophic lichen planus,[Atrophic LP],A rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.,,,,,,Atrophic lichen planus,TRUE,FALSE,Active +GARD:12676,Active,Orphanet,ORPHA:254411,Disorder,[Disease],Annular atrophic lichen planus,[Annular atrophic LP],A rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.,,,,,,Annular atrophic lichen planus,TRUE,FALSE,Active +GARD:12677,Active,Orphanet,ORPHA:254478,Disorder,[Disease],Lichen planus pemphigoides,[LP pemphigoides],Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid (see these terms).,,,,,,Lichen planus pemphigoides,TRUE,FALSE,Active +GARD:12678,Active,Orphanet,ORPHA:401859,Disorder,[Disease],Lipoic acid synthetase deficiency,,"Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.",[614462],,,,,Lipoic acid synthetase deficiency,TRUE,FALSE,Active +GARD:12679,Active,Orphanet,ORPHA:401854,Group of disorders,[Category],Lipoic acid biosynthesis defect,[Lipoate biosynthesis defect],,,,,,,Lipoic acid biosynthesis defects,TRUE,FALSE,Active +GARD:12680,Active,Orphanet,ORPHA:401862,Disorder,[Disease],Lipoyl transferase 1 deficiency,,"Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.",[616299],,,,,Lipoyl transferase 1 deficiency,TRUE,FALSE,Draft +GARD:12681,Active,Orphanet,ORPHA:401866,Disorder,[Disease],Childhood-onset spasticity with hyperglycinemia,"[Childhood-onset spasticity with variant non-ketotic hyperglycinemia, Spasticity-ataxia-gait anomalies syndrome]","Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.",[616859],,,,,Spasticity-ataxia-gait anomalies syndrome,TRUE,FALSE,Draft +GARD:12682,Active,Orphanet,ORPHA:2744,Disorder,[Disease],Horizontal gaze palsy with progressive scoliosis,"[HGPPS, Progressive external ophthalmoplegia and scoliosis]","Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.","[607313, 617542]",,,,,Horizontal gaze palsy with progressive scoliosis,TRUE,FALSE,Active +GARD:12683,Active,Orphanet,ORPHA:53739,Group of disorders,[Clinical group],Distal hereditary motor neuropathy,"[Distal spinal muscular atrophy, dHMN, dSMA]",,,,,,,Distal hereditary motor neuropathy,TRUE,FALSE,Active +GARD:12684,Active,Orphanet,ORPHA:391384,Disorder,[Disease],Familial episodic pain syndrome,[FEPS],"Familial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.","[615552, 615040]",,,,,Familial episodic pain syndrome,TRUE,FALSE,Active +GARD:12685,Legacy,GARD,,,,,,,,,,,,Hereditary motor and sensory neuropathy,TRUE,FALSE,Active +GARD:12686,Active,Orphanet,ORPHA:79456,Disorder,[Disease],Diffuse cutaneous mastocytosis,"[DCM, Diffuse cutaneous maculopapulous mastocytosis]","Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term).",,,,,,Diffuse cutaneous mastocytosis,TRUE,FALSE,Active +GARD:12687,Active,Orphanet,ORPHA:79455,Disorder,[Disease],Cutaneous mastocytoma,"[Cutaneous local mastocytoma, Multiple mastocytoma, Solitary mastocytoma]","Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.",,,,,,Cutaneous mastocytoma,TRUE,FALSE,Active +GARD:12688,Active,Orphanet,ORPHA:140471,Group of disorders,[Clinical group],Hereditary sensory and autonomic neuropathy,[HSAN],,,,,,,Hereditary sensory and autonomic neuropathy,TRUE,FALSE,Active +GARD:12689,Legacy,GARD,,,,,,,,,,,,Varicocele ,FALSE,FALSE,Draft +GARD:12690,Legacy,GARD,,,,,,,,,,,,Antithrombin deficiency,TRUE,FALSE,Retired +GARD:12691,Legacy,GARD,,,,,,,,,,,,Kashin–Beck disease,FALSE,FALSE,Draft +GARD:12692,Legacy,GARD,,,,,,,,,,,,Unspecified thrombocytopenia,FALSE,FALSE,Draft +GARD:12693,Legacy,GARD,,,,,,,,,,,,Chromosome 22 deletion,FALSE,FALSE,Draft +GARD:12694,Legacy,GARD,,,,,,,,,,,,Rectal leiomyoma,FALSE,FALSE,Draft +GARD:12695,Legacy,GARD,,,,,,,,,,,,Artritis idiopática juvenil,FALSE,TRUE,Active +GARD:12696,Legacy,GARD,,,,,,,,,,,,Myoclonic epilepsy,FALSE,FALSE,Draft +GARD:12697,Active,Orphanet,ORPHA:252057,Group of disorders,[Category],Tumor of cranial and spinal nerves,[Rare tumor of cranial and spinal nerves],,,,,,,Tumor of cranial and spinal nerves,TRUE,FALSE,Active +GARD:12698,Active,Orphanet,ORPHA:85102,Group of disorders,[Clinical group],Perineurioma,,,,,,,,Perineurioma,TRUE,FALSE,Active +GARD:12699,Legacy,GARD,,,,,,,,,,,,Aciduria 2-hidroxiglutárica,TRUE,TRUE,Active +GARD:127,Active,Orphanet,ORPHA:3210,Disorder,[Malformation syndrome],Summitt syndrome,,"A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disabaility. There have been no further descriptions in the literature since 1992.",[272350],,,,,Summitt syndrome,TRUE,FALSE,Retired +GARD:12700,Legacy,GARD,,,,,,,,,,,,Displasia mesomelica de Langer,TRUE,TRUE,Active +GARD:12701,Legacy,GARD,,,,,,,,,,,,Síndrome de Gorham,TRUE,TRUE,Active +GARD:12703,Active,Orphanet,ORPHA:2764,Disorder,[Disease],Osteochondritis dissecans,[König disease],"Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.",,,,,,Osteochondritis dissecans,TRUE,FALSE,Active +GARD:12704,Active,Orphanet,ORPHA:399319,Group of disorders,[Category],Osteochondrosis,,,,,,,,Osteochondrosis,TRUE,FALSE,Active +GARD:12705,Legacy,GARD,,,,,,,,,,,,Collagen VI related muscular dystrophy ,TRUE,FALSE,Active +GARD:12706,Active,Orphanet,ORPHA:617440,Disorder,[Clinical syndrome],Painful legs and moving toes syndrome,[PLMT syndrome],,,,,,,Painful legs and moving toes syndrome,TRUE,FALSE,Active +GARD:12707,Legacy,GARD,,,,,,,,,,,,Congenital heart malformation,FALSE,FALSE,Active +GARD:12708,Legacy,GARD,,,,,,,,,,,,X-linked intellectual disability 63,FALSE,FALSE,Draft +GARD:12709,Legacy,GARD,,,,,,,,,,,,Combined hamartoma of the retina and the retinal pigment epithelium,FALSE,FALSE,Draft +GARD:12710,Legacy,GARD,,,,,,,,,,,,Chromosome 3 deletion,FALSE,FALSE,Draft +GARD:12711,Legacy,GARD,,,,,,,,,,,,Shewanella,FALSE,FALSE,Draft +GARD:12712,Legacy,GARD,,,,,,,,,,,,Parálisis congénita de la laringe,TRUE,TRUE,Active +GARD:12713,Active,Orphanet,ORPHA:137932,Disorder,[Malformation syndrome],Congenital laryngeal palsy,[Congenital vocal cord paralysis],"Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.",,,,,,Congenital laryngeal palsy,TRUE,FALSE,Active +GARD:12714,Legacy,GARD,,,,,,,,,,,,Síndrome de Angelman ,TRUE,TRUE,Active +GARD:12715,Active,Orphanet,ORPHA:457260,Disorder,[Disease],X-linked intellectual disability-hypotonia-movement disorder syndrome,,"A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.",[300958],,,,,DDX3X-related intellectual disability,TRUE,FALSE,Active +GARD:12716,Active,Orphanet,ORPHA:228240,Disorder,[Disease],Elastoderma,,"An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically occurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed.",,,,,,Elastoderma,TRUE,FALSE,Active +GARD:12718,Active,Orphanet,ORPHA:169186,Disorder,[Disease],Autosomal recessive centronuclear myopathy,[AR-CNM],"A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement.","[615959, 255200]",,,,,Autosomal recessive centronuclear myopathy,TRUE,FALSE,Active +GARD:12719,Active,Orphanet,ORPHA:169189,Disorder,[Disease],Autosomal dominant centronuclear myopathy,[AD-CNM],"A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.",[160150],,,,,Autosomal dominant centronuclear myopathy,TRUE,FALSE,Active +GARD:12720,Active,Orphanet,ORPHA:97232,Disorder,[Disease],Fingerprint body myopathy,,"Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.",[305550],,,,,Fingerprint body myopathy,TRUE,FALSE,Active +GARD:12721,Legacy,GARD,,,,,,,,,,,,Warfarin resistance,TRUE,FALSE,Active +GARD:12722,Active,Orphanet,ORPHA:324588,Disorder,[Disease],Familial dyskinesia and facial myokymia,[FDFM],"Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.",[606703],,,,,ADCY5-related dyskinesia ,TRUE,FALSE,Active +GARD:12723,Legacy,GARD,,,,,,,,,,,,Síndrome de Wolf-Hirschhorn,TRUE,TRUE,Active +GARD:12724,Active,Orphanet,ORPHA:98892,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia,[PVNH],"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.","[612881, 300049, 617201, 618185, 618918, 608098, 608097, 615544]",,,,,Periventricular heterotopia,TRUE,FALSE,Active +GARD:12725,Legacy,GARD,,,,,,,,,,,,Heterotopia nodular periventricular,TRUE,TRUE,Active +GARD:12726,Legacy,GARD,,,,,,,,,,,,Deficiencia del transportador de riboflavina,TRUE,TRUE,Active +GARD:12729,Legacy,GARD,,,,,,,,,,,,Autosomal dominant hereditary sensory and autonomic neuropathy,FALSE,FALSE,Draft +GARD:12730,Legacy,GARD,,,,,,,,,,,,Autosomal recessive hereditary sensory and autonomic neuropathy,FALSE,FALSE,Draft +GARD:12731,Active,Orphanet,ORPHA:139583,Disorder,[Disease],X-linked hereditary sensory and autonomic neuropathy with deafness,"[X-linked HSAN with deafness, X-linked HSAN with hearing loss, X-linked auditory neuropathy with peripheral sensory neuropathy type 1, X-linked hereditary sensory and autonomic neuropathy with hearing loss]",This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.,[300614],,,,,X-linked hereditary sensory and autonomic neuropathy with deafness,TRUE,FALSE,Active +GARD:12732,Active,Orphanet,ORPHA:391397,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 7,"[CIP with hyperhidrosis and gastrointestinal dysfunction, Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction, HSAN with hyperhidrosis and gastrointestinal dysfunction, HSAN7, Hereditary sensory and autonomic neuropathy type VII, Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction]","A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal.",[615548],,,,,Hereditary sensory and autonomic neuropathy type 7,TRUE,FALSE,Active +GARD:12733,Active,Orphanet,ORPHA:207015,Group of disorders,[Category],Rare hereditary disease with peripheral neuropathy,,,,,,,,Rare hereditary disease with peripheral neuropathy,TRUE,FALSE,Draft +GARD:12734,Legacy,GARD,,,,,,,,,,,,Peripheral resistance to thyroid hormones,TRUE,FALSE,Active +GARD:12735,Legacy,GARD,,,,,,,,,,,,Secondary adrenal insufficiency,TRUE,FALSE,Active +GARD:12736,Active,Orphanet,ORPHA:93548,Group of disorders,[Category],Glomerular disease,,,,,,,,Glomerular disease,TRUE,FALSE,Draft +GARD:12737,Legacy,GARD,,,,,,,,,,,,Basement membrane disease,TRUE,FALSE,Draft +GARD:12738,Legacy,GARD,,,,,,,,,,,,Primary glomerular disease,FALSE,FALSE,Draft +GARD:12739,Legacy,GARD,,,,,,,,,,,,Secondary glomerular disease,TRUE,FALSE,Draft +GARD:1274,Active,Orphanet,ORPHA:2888,Disorder,[Malformation syndrome],Pierre Robin syndrome-faciodigital anomaly syndrome,"[Chitayat-Meunier-Hodgkinson syndrome, Pierre Robin sequence-faciodigital anomaly syndrome]","A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal.",[311895],,,,,Chitayat Meunier Hodgkinson syndrome,TRUE,FALSE,Active +GARD:12740,Active,Orphanet,ORPHA:97566,Disorder,[Disease],Non-amyloid fibrillary glomerulopathy,"[Congo red-negative amyloidosis-like glomerulopathy, Non-amyloid fibrillary glomerulonephritis]","Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG, see this term) are often grouped together as pathogenetically related diseases.",,,,,,Fibrillary glomerulonephritis ,TRUE,FALSE,Active +GARD:12741,Active,Orphanet,ORPHA:91137,Group of disorders,[Clinical group],Immunotactoid or fibrillary glomerulopathy,[Immunotactoid or fibrillary glomerulonephritis],"Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) (see these terms), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.",,,,,,Immunotactoid or fibrillary glomerulopathy,TRUE,FALSE,Active +GARD:12742,Active,Orphanet,ORPHA:93568,Disorder,[Disease],Juvenile polymyositis,[Juvenile PM],"A rare type of juvenile idiopathic inflammatory myopathy (IIM) characterized by an onset before 18 years of age of chronic skeletal muscle inflammation, manifesting as progressive, proximal and distal muscle weakness and atrophy.",,,,,,Juvenile polymyositis,TRUE,FALSE,Active +GARD:12743,Legacy,GARD,,,,,,,,,,,,ACTG2-related disorders ,TRUE,FALSE,Active +GARD:12744,Active,Orphanet,ORPHA:2978,Disorder,[Clinical syndrome],Chronic intestinal pseudoobstruction,[CIPO],"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.","[300048, 243180, 609629, 601223]",,,,,Chronic intestinal pseudoobstruction,TRUE,FALSE,Active +GARD:12745,Legacy,GARD,,,,,,,,,,,,Síndrome de megavejiga - microcolon - hipoperistaltismo intestinal ,TRUE,TRUE,Active +GARD:12746,Legacy,GARD,,,,,,,,,,,,Cystoid macular edema ,FALSE,FALSE,Draft +GARD:12747,Legacy,GARD,,,,,,,,,,,,Hereditary spastic paraplegia - autosomal dominant inheritance,TRUE,FALSE,Draft +GARD:12748,Legacy,GARD,,,,,,,,,,,,Hereditary spastic paraplegia - autosomal recessive inheritance,TRUE,FALSE,Draft +GARD:12749,Active,Orphanet,ORPHA:171622,Disorder,[Disease],Autosomal recessive spastic paraplegia type 32,[SPG32],"Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.",[611252],,,,,Spastic paraplegia 32,TRUE,FALSE,Active +GARD:1275,Legacy,GARD,,,,,,,,,,,,"Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis",TRUE,FALSE,Retired +GARD:12750,Legacy,GARD,,,,,,,,,,,,Hereditary spastic paraplegia - X-linked inheritance,TRUE,FALSE,Draft +GARD:12751,Legacy,GARD,,,,,,,,,,,,Hereditary spastic paraplegia – maternal inheritance,TRUE,FALSE,Draft +GARD:12752,Legacy,GARD,,,,,,,,,,,,Occupational lung diseases,FALSE,FALSE,Active +GARD:12753,Legacy,GARD,,,,,,,,,,,,Pneumoconiosis,FALSE,FALSE,Active +GARD:12754,Legacy,GARD,,,,,,,,,,,,Hypertrichosis universalis,TRUE,FALSE,Active +GARD:12755,Legacy,GARD,,,,,,,,,,,,"Parasitic Infection, organism unknown",FALSE,FALSE,Draft +GARD:12756,Legacy,GARD,,,,,,,,,,,,Exfoliative cheilitis,FALSE,FALSE,Draft +GARD:12757,Active,Orphanet,ORPHA:519,Group of disorders,[Clinical group],Acute myeloid leukemia,"[AML, Acute myelogenous leukemia]","A group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. They manifest by fever, pallor, anemia, hemorrhages and recurrent infections.",[601626],,,,,Acute myeloid leukemia ,TRUE,FALSE,Active +GARD:12758,Active,Orphanet,ORPHA:98277,Group of disorders,[Category],Acute myeloid leukemia with recurrent genetic anomaly,[AML with recurrent genetic anomaly],,[601626],,,,,Acute myeloid leukemia with recurrent genetic anomaly,TRUE,FALSE,Active +GARD:12759,Active,Orphanet,ORPHA:402020,Disorder,[Disease],Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2),[AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)],"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.",,,,,,Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2),TRUE,FALSE,Active +GARD:12760,Active,Orphanet,ORPHA:167714,Group of disorders,[Category],Unclassified acute myeloid leukemia,[Unclassified AML],,[601626],,,,,Unclassified acute myeloid leukemia ,TRUE,FALSE,Active +GARD:12761,Active,Orphanet,ORPHA:86845,Disorder,[Disease],Acute myeloid leukaemia with myelodysplasia-related features,"[AML with multilineage dysplasia, AML with myelodysplasia-related features, Acute myeloid leukemia with multilineage dysplasia]","A rare acute myeloid leukemia (AML) characterized by the presence of acute leukemia with at least 20% peripheral blood or bone marrow blasts with morphological features of myelodysplasia, or occurrence in patients with a prior history of a myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm, with MDS-related cytogenetic abnormalities, in the absence of specific genetic abnormalities characteristic of AML with recurrent genetic abnormalities. Prior cytotoxic or radiation therapy for an unrelated disease must be excluded. The condition occurs mainly in elderly patients and is rare in children. Patients often present with severe pancytopenia. Prognosis is generally poor.",[601626],,,,,AML with myelodysplasia-related features ,TRUE,FALSE,Active +GARD:12762,Active,Orphanet,ORPHA:86846,Group of disorders,[Category],Therapy related acute myeloid leukemia and myelodysplastic syndrome,"[Secondary AML, Secondary acute myeloid leukemia, Therapy-related AML and myelodysplastic syndrome]",,[601626],,,,,Therapy related acute myeloid leukemia and myelodysplastic syndrome,TRUE,FALSE,Active +GARD:12763,Active,Orphanet,ORPHA:86850,Disorder,[Disease],Myeloid sarcoma,"[Chloroma, Extramedullary myeloid tumor, Granulocytic sarcoma]",Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site.,,,,,,Myeloid sarcoma,TRUE,FALSE,Active +GARD:12764,Legacy,GARD,,,,,,,,,,,,Myeloid proliferations related to Down syndrome,TRUE,FALSE,Active +GARD:12765,Active,Orphanet,ORPHA:420611,Disorder,[Disease],Transient myeloproliferative syndrome,"[TMD, Transient abnormal myelopoiesis, Transient myeloproliferative disease]","A rare hematologic disease characterized by clinical and morphological findings indistinguishable from those of acute myeloid leukemia, typically occurring in newborns with Down syndrome. Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21, acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia, less commonly other cytopenias, leukocytosis, hepatosplenomegaly, jaundice, ascites, respiratory distress, bleeding, and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life, although some may develop life-threatening hepatic, renal, or cardiac complications.",[159595],,,,,Transient myeloproliferative syndrome,TRUE,FALSE,Active +GARD:12766,Active,Orphanet,ORPHA:217377,Disorder,[Malformation syndrome],Microduplication Xp11.22p11.23 syndrome,"[Dup(X)(p11.22p11.23), Trisomy Xp11.22p11.23]",Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.,[300801],,,,,Microduplication Xp11.22-p11.23 syndrome,TRUE,FALSE,Active +GARD:12767,Legacy,GARD,,,,,,,,,,,,Preaxial polydactyly of fingers,TRUE,FALSE,Active +GARD:12768,Active,Orphanet,ORPHA:284388,Disorder,[Clinical syndrome],Reversible cerebral vasoconstriction syndrome,[RCVS],"A rare cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries. It may occur spontaneously or be provoked by various precipitating factors, the most common being postpartum and exposure to various vasoactive substances such as illicit drugs and selective serotonin-reuptake inhibitors. The major complication is ischemic or hemorrhagic stroke.",,,,,,Reversible cerebral vasoconstriction syndrome,TRUE,FALSE,Active +GARD:12769,Legacy,GARD,,,,,,,,,,,,Central polydactyly of fingers,FALSE,FALSE,Active +GARD:1277,Legacy,GARD,,,,,,,,,,,,Chitty Hall Webb syndrome,TRUE,FALSE,Active +GARD:12770,Legacy,GARD,,,,,,,,,,,,Postaxial polydactyly of toes ,FALSE,FALSE,Active +GARD:12771,Legacy,GARD,,,,,,,,,,,,Preaxial polydactyly of toes,FALSE,FALSE,Active +GARD:12772,Active,Orphanet,ORPHA:180257,Group of disorders,[Category],Rare malignant breast tumor,[Rare breast cancer],,,,,,,Rare malignant breast tumor,TRUE,FALSE,Draft +GARD:12773,Active,Orphanet,ORPHA:213528,Disorder,[Disease],Rare adenocarcinoma of the breast,,"A rare malignant breast tumor disease encompassing special rare types of adenocarcinoma of the breast, i.e. tubular adenocarcinoma, mucinous carcinoma, medullary carcinoma NOS, papillary adenocarcinoma NOS, cribriform carcinoma, apocrine adenocarcinoma, secretory carcinoma, glycogen-rich clear cell carcinoma, lipid-rich carcinoma, and oncocytic carcinoma.",,,,,,Rare adenocarcinoma of the breast,TRUE,FALSE,Active +GARD:12774,Active,Orphanet,ORPHA:213557,Disorder,[Disease],Salivary gland type cancer of the breast,[Salivary gland type carcinoma of the breast],"Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma (see this term), mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.",,,,,,Salivary gland type cancer of the breast,TRUE,FALSE,Active +GARD:12775,Active,Orphanet,ORPHA:180253,Group of disorders,[Category],Rare benign breast tumor,,,,,,,,Rare benign breast tumor,TRUE,FALSE,Draft +GARD:12776,Legacy,GARD,,,,,,,,,,,,Carcinoma of unknown primary site,FALSE,FALSE,Draft +GARD:12777,Active,Orphanet,ORPHA:300496,Disorder,[Malformation syndrome],Multiple congenital anomalies-hypotonia-seizures syndrome type 2,[MCAHS type 2],"A rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.",[300868],,,,,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,TRUE,FALSE,Active +GARD:12778,Legacy,GARD,,,,,,,,,,,,Acute liver failure,FALSE,FALSE,Draft +GARD:12779,Active,Orphanet,ORPHA:284247,Disorder,[Malformation syndrome],Familial retinal arterial macroaneurysm,"[FRAM, Retinal arterial macroaneurysm and supravalvular pulmonic stenosis]","Familial retinal arterial macroaneurysm is a rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.",[614224],,,,,Retinal arterial macroaneurysm with supravalvular pulmonic stenosis,TRUE,FALSE,Active +GARD:12780,Legacy,GARD,,,,,,,,,,,,Síndrome de Nance-Horan,TRUE,TRUE,Active +GARD:12781,Active,Orphanet,ORPHA:280633,Disorder,[Malformation syndrome],Multiple congenital anomalies-hypotonia-seizures syndrome,"[Congenital disorder of glycosylation due to PIGN deficiency, PIGN-CDG]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.",[614080],,,,,Multiple congenital anomalies-hypotonia-seizures syndrome,TRUE,FALSE,Active +GARD:12782,Active,Orphanet,ORPHA:371235,Group of disorders,[Category],Congenital disorder of glycosylation with developmental anomaly,[CDG with developmental anomaly],,,,,,,Congenital disorder of glycosylation with developmental anomaly,TRUE,FALSE,Active +GARD:12783,Legacy,GARD,,,,,,,,,,,,PIGA deficiency,TRUE,FALSE,Draft +GARD:12784,Active,Orphanet,ORPHA:542643,Disorder,[Clinical syndrome],Livedoid vasculopathy,"[Livedo reticularis with summer ulcerations, Milian atrophie blanche, Segmental hyalinizing vasculitis]","A rare vascular skin disease characterized by recurrent focal non-inflammatory thrombosis of dermal venulae, predominantly of the lower extremities, resulting in a cutaneous response manifested as pruritus and painful papules and erythematous plaques. The lesions evolve into hemorrhagic vesicles or bullae, which rupture and turn into painful ulcers merging into reticulate, confluent, geometric, and painful ulcerations. During a period of a few months, the ulcerations change to porcelain-white atrophic scars with punctate telangiectasia (so-called atrophie blanche). In active disease, lesions in different stages coexist.",,,,,,Livedoid vasculopathy,TRUE,FALSE,Active +GARD:12785,Legacy,GARD,,,,,,,,,,,,Mosaic tetrasomy 13,FALSE,FALSE,Draft +GARD:12786,Legacy,GARD,,,,,,,,,,,,Polimiositis,TRUE,TRUE,Active +GARD:12787,Legacy,GARD,,,,,,,,,,,,Síndrome de Goodpasture,TRUE,TRUE,Active +GARD:12788,Legacy,GARD,,,,,,,,,,,,JC virus,FALSE,FALSE,Draft +GARD:12789,Legacy,GARD,,,,,,,,,,,,Síndrome de triple A,TRUE,TRUE,Active +GARD:12790,Legacy,GARD,,,,,,,,,,,,Oligodontia,FALSE,FALSE,Draft +GARD:12791,Legacy,GARD,,,,,,,,,,,,Mucinous adenocarcinoma of the fistula,FALSE,FALSE,Draft +GARD:12792,Legacy,GARD,,,,,,,,,,,,Juvenile ossifying fibroma ,TRUE,FALSE,Active +GARD:12793,Legacy,GARD,,,,,,,,,,,,COL4A1-Related Disorder,FALSE,FALSE,Draft +GARD:12794,Active,Orphanet,ORPHA:89842,Disorder,[Disease],"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form","[Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis, Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type, Generalized RDEB, intermediate form, RDEB, non-Hallopeau-Siemens type]",A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.,,,,,,Recessive dystrophic epidermolysis bullosa-generalized other,TRUE,FALSE,Active +GARD:12795,Legacy,GARD,,,,,,,,,,,,Recessive dystrophic epidermolysis bullosa ,TRUE,FALSE,Active +GARD:12796,Active,Orphanet,ORPHA:166260,Subtype of disorder,[Clinical subtype],Dentinogenesis imperfecta type 2,"[Capdepont teeth, DGI-2, DI-2, Dentinogenesis imperfecta, Shields type 2]","Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth.","[605594, 125490]",,,,,Dentinogenesis imperfecta type 2,TRUE,FALSE,Active +GARD:12797,Legacy,GARD,,,,,,,,,,,,Dentinogenesis imperfecta type 1,TRUE,FALSE,Draft +GARD:12798,Active,Orphanet,ORPHA:1020,Disorder,[Disease],Early-onset autosomal dominant Alzheimer disease,"[EOFAD, Early-onset familial autosomal dominant Alzheimer disease, Familial Alzheimer disease]","Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.","[104310, 606889, 605526, 604154, 611152, 605055, 607116, 611073, 606187, 609636, 607822, 609790, 611154, 602096, 104300]",,,,,"Early-onset, autosomal dominant Alzheimer disease",TRUE,FALSE,Active +GARD:12799,Active,Orphanet+OMIM,OMIM:104310,Subtype of disorder,[Disease subtype],Alzheimer disease 2,"[Alzheimer disease 2, late-onset, alzheimer disease associated with apoe4]",,[104310],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,Late-Onset Familial Alzheimer Disease,TRUE,FALSE,Active +GARD:1280,Active,Orphanet,ORPHA:171,Disorder,[Disease],Primary sclerosing cholangitis,[PSC],"Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.","[602114, 613806]",,,,,Primary sclerosing cholangitis,TRUE,FALSE,Active +GARD:12800,Active,Orphanet,ORPHA:306498,Group of disorders,[Clinical group],PTEN hamartoma tumor syndrome,[PHTS],"A group rare skin tumor or hamartoma diseases characterized by a germline PTEN mutation and clinical manifestations of hamartomas, overgrowth, and increased risk of neoplasia, notably breast carcinomas, epithelial thyroid carcinomas, endometrial carcinomas, renal cell carcinomas, and colorectal carcinoma. Non-malignant manifestations include macrocephaly, benign thyroid pathology (especially Hashimoto thyroiditis), mucocutaneous hamartomas, colonic polyps, and vascular malformations. Diseases in this group include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, Lhermitte-Duclos disease, and Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome.",,,,,,PTEN hamartoma tumor syndrome,TRUE,FALSE,Active +GARD:12801,Active,Orphanet,ORPHA:2969,Disorder,[Disease],Proteus-like syndrome,,Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.,[158350],,,,,Proteus-like syndrome,TRUE,FALSE,Active +GARD:12802,Legacy,GARD,,,,,,,,,,,,Crystal arthropathies ,FALSE,FALSE,Active +GARD:12803,Legacy,GARD,,,,,,,,,,,,Phaeohyphomycosis,TRUE,FALSE,Active +GARD:12804,Legacy,GARD,,,,,,,,,,,,Linfangiectasia intestinal primaria,TRUE,TRUE,Draft +GARD:12806,Active,Orphanet,ORPHA:1797,Disorder,[Malformation syndrome],Autosomal dominant spondylocostal dysostosis,[Autosomal dominant spondylocostal dysplasia],"A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.",[122600],,,,,Spondylocostal dysostosis 5,TRUE,FALSE,Active +GARD:12807,Active,Orphanet+OMIM,OMIM:616566,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 6, autosomal recessive",,,[616566],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 6,TRUE,FALSE,Active +GARD:12808,Legacy,GARD,,,,,,,,,,,,Enfermedad de Krabbe ,TRUE,TRUE,Active +GARD:12809,Legacy,GARD,,,,,,,,,,,,Neumotorax catamenial,TRUE,TRUE,Active +GARD:12810,Legacy,GARD,,,,,,,,,,,,Pyruvate dehydrogenase E3-binding protein deficiency,FALSE,FALSE,Draft +GARD:12811,Active,Orphanet,ORPHA:404463,Disorder,[Disease],Multisystemic smooth muscle dysfunction syndrome,,"Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.",[613834],,,,,Multisystemic smooth muscle dysfunction syndrome,TRUE,FALSE,Active +GARD:12812,Legacy,GARD,,,,,,,,,,,,Hepatosplenic gamma delta T-cell lymphoma,FALSE,FALSE,Draft +GARD:12813,Legacy,GARD,,,,,,,,,,,,Pustular psoriasis,TRUE,FALSE,Active +GARD:12814,Active,Orphanet,ORPHA:508488,Disorder,[Malformation syndrome],8q24.3 microdeletion syndrome,"[Del(8)(q24.3), Deletion 8q24.3, Monosomy 8q24.3, Verheij syndrome]","A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures.",[615583],,,,,Chromosome 8q24.3 deletion syndrome,TRUE,FALSE,Active +GARD:12815,Active,Orphanet,ORPHA:363686,Disorder,[Disease],Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,,"Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.",[615074],,,,,GATAD2B-associated neurodevelopmental disorder,TRUE,FALSE,Active +GARD:12816,Active,Orphanet,ORPHA:228399,Disorder,[Malformation syndrome],8q12 microduplication syndrome,"[Dup(8)(q12), Trisomy 8q12]","The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).",,,,,,8q12 microduplication syndrome,TRUE,FALSE,Active +GARD:12817,Legacy,GARD,,,,,,,,,,,,Síndrome de Cockayne ,TRUE,TRUE,Active +GARD:12819,Active,Orphanet,ORPHA:247353,Disorder,[Disease],Generalized pustular psoriasis,[GPP],"Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.","[614204, 616106]",,,,,Generalized pustular psoriasis,TRUE,FALSE,Active +GARD:12820,Active,Orphanet,ORPHA:163927,Disorder,[Disease],Pustulosis palmaris et plantaris,"[LPP, Localized pustular psoriasis, PPP, Palmoplantar pustulosis]","A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background. The lesions are usually painful and affect the palms and soles, sometimes also the lateral aspects of hands and feet. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking.",,,,,,Pustulosis palmaris et plantaris,TRUE,FALSE,Active +GARD:12821,Active,Orphanet,ORPHA:171430,Disorder,[Disease],Severe congenital nemaline myopathy,,Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.,"[615731, 161800, 615348, 616165, 256030]",,,,,Severe congenital nemaline myopathy,TRUE,FALSE,Active +GARD:12822,Active,Orphanet,ORPHA:171436,Disorder,[Disease],Typical nemaline myopathy,,Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.,"[615731, 610687, 609285, 161800, 616165, 256030]",,,,,Typical congenital nemaline myopathy ,TRUE,FALSE,Active +GARD:12823,Active,Orphanet,ORPHA:171433,Disorder,[Disease],Intermediate nemaline myopathy,,Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.,"[615731, 609284, 161800, 256030]",,,,,Intermediate congenital nemaline myopathy,TRUE,FALSE,Active +GARD:12824,Active,Orphanet,ORPHA:171442,Disorder,[Disease],Adult-onset nemaline myopathy,,A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.,,,,,,Adult-onset nemaline myopathy,TRUE,FALSE,Active +GARD:12825,Active,Orphanet,ORPHA:561854,Disorder,[Disease],FOXG1 syndrome,[FOXG1-related epileptic-dyskinetic encephalopathy],"A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.",,,,,,FOXG1 syndrome,TRUE,FALSE,Active +GARD:12826,Legacy,GARD,,,,,,,,,,,,GATAD2B associated neurodevelopment disorder,FALSE,FALSE,Retired +GARD:12827,Active,Orphanet,ORPHA:69735,Disorder,[Disease],Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,[Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome],"An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.","[607823, 137940]",,,,,Hypotrichosis-lymphedema-telangiectasia syndrome,TRUE,FALSE,Active +GARD:12828,Legacy,GARD,,,,,,,,,,,,Enfermedad celiaca,TRUE,TRUE,Active +GARD:12829,Active,Orphanet,ORPHA:411703,Disorder,[Disease],Pulmonary non-tuberculous mycobacterial infection,[Non-tuberculous mycobacterial lung disease],"A rare bacterial infectious disease caused by non-tuberculous mycobacteria (including Mycobacterium avium complex, Mycobacterium kansasii, or Mycobacterium xenopi, among others), characterized by chronic pulmonary disease with symptoms like chronic cough (with or without sputum production), chest pain, and weight loss. Predisposing factors are preexisting lung conditions, neoplasms, immunosuppression, or thoracic skeletal abnormalities.",,,,,,Nontuberculous mycobacterial lung disease,TRUE,FALSE,Active +GARD:12830,Legacy,GARD,,,,,,,,,,,,Intellectual disability due to a single gene mutation,FALSE,FALSE,Active +GARD:12831,Legacy,GARD,,,,,,,,,,,,Myosinopathies,TRUE,FALSE,Active +GARD:12832,Active,Orphanet+OMIM,OMIM:613426,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1s",,,[613426],[154],[Familial isolated dilated cardiomyopathy],[2905],,Dilated cardiomyopathy-1S ,TRUE,FALSE,Active +GARD:12833,Legacy,GARD,,,,,,,,,,,,FGFR-Related Craniosynostosis Syndromes,TRUE,FALSE,Draft +GARD:12834,Legacy,GARD,,,,,,,,,,,,Síndromes de craneosinostosis asociados al gen FGFR,TRUE,TRUE,Internal +GARD:12835,Active,Orphanet,ORPHA:79126,Disorder,[Disease],Acute interstitial pneumonia,"[Acute interstitial pneumonitis, Hamman-Rich syndrome]",A rare rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia.,[178500],,,,,Acute interstitial pneumonia,TRUE,FALSE,Active +GARD:12836,Legacy,GARD,,,,,,,,,,,,PURA syndrome,TRUE,FALSE,Active +GARD:12837,Legacy,GARD,,,,,,,,,,,,Síndrome de Seckel,TRUE,TRUE,Active +GARD:12838,Legacy,GARD,,,,,,,,,,,,Microcefalia primaria autosómica recesiva,TRUE,TRUE,Active +GARD:12839,Legacy,GARD,,,,,,,,,,,,Heterotopic ossification,FALSE,FALSE,Draft +GARD:12840,Legacy,GARD,,,,,,,,,,,,Leiomiomatosis hereditaria y cáncer de células renales,TRUE,TRUE,Active +GARD:12841,Legacy,GARD,,,,,,,,,,,,Pervasive arousal withdrawal syndrome,FALSE,FALSE,Draft +GARD:12842,Legacy,GARD,,,,,,,,,,,,Esclerosis múltiple ,FALSE,TRUE,Active +GARD:12843,Active,Orphanet,ORPHA:71274,Disorder,[Disease],Disseminated peritoneal leiomyomatosis,"[DPL, Diffuse peritoneal leiomyomatosis, LPD, Leiomyomatosis peritonealis disseminate]",Disseminated peritoneal leiomyomatosis (DPL) is characterized by the proliferation of multiple benign smooth muscle cell-containing nodules in the peritoneal cavity.,,,,,,Disseminated peritoneal leiomyomatosis,TRUE,FALSE,Active +GARD:12844,Active,Orphanet,ORPHA:363396,Disorder,[Disease],High myopia-sensorineural deafness syndrome,[High myopia-sensorineural hearing loss syndrome],"High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.",[221200],,,,,Deafness and myopia syndrome,TRUE,FALSE,Active +GARD:12845,Active,Orphanet,ORPHA:444077,Disorder,[Malformation syndrome],Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,[CHOPS syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux.",[616368],,,,,CHOPS syndrome,TRUE,FALSE,Active +GARD:12846,Legacy,GARD,,,,,,,,,,,,Berardinelli-Seip congenital ,TRUE,FALSE,Draft +GARD:12847,Legacy,GARD,,,,,,,,,,,,"Displasia ectodérmica, hipohidrosis e hipotiroidismo",TRUE,TRUE,Active +GARD:12848,Legacy,GARD,,,,,,,,,,,,Síndrome de Griscelli,TRUE,TRUE,Active +GARD:12849,Legacy,GARD,,,,,,,,,,,,Dissociative Identity Disorder,FALSE,FALSE,Draft +GARD:12850,Legacy,GARD,,,,,,,,,,,,ARID1B-related intellectual disability,TRUE,FALSE,Draft +GARD:12851,Active,Orphanet+OMIM,OMIM:613970,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 6, with or without seizures","[Mental retardation, autosomal dominant 6, with or without seizures]","MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by {7:Platzer et al., 2017}).",[613970],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,GRIN2B related syndrome,TRUE,FALSE,Active +GARD:12852,Legacy,GARD,,,,,,,,,,,,MBD25–related intellectual disability,TRUE,FALSE,Active +GARD:12853,Legacy,GARD,,,,,,,,,,,,MED23-related intellectual disability,FALSE,FALSE,Draft +GARD:12854,Active,Orphanet,ORPHA:46348,Disorder,[Disease],Paroxysmal extreme pain disorder,[Familial rectal pain],"A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.",[167400],,,,,Paroxysmal extreme pain disorder,TRUE,FALSE,Active +GARD:12855,Legacy,GARD,,,,,,,,,,,,Vestibular migraine,FALSE,FALSE,Retired +GARD:12856,Legacy,GARD,,,,,,,,,,,,Trigeminal trophic syndrome,TRUE,FALSE,Active +GARD:12857,Legacy,GARD,,,,,,,,,,,,Enfermedad de Menkes,TRUE,TRUE,Active +GARD:12858,Legacy,GARD,,,,,,,,,,,,Autosomal Dominant Cerebellar Ataxias,FALSE,FALSE,Retired +GARD:12859,Legacy,GARD,,,,,,,,,,,,Autosomal Recessive Cerebellar Ataxias,FALSE,FALSE,Draft +GARD:12860,Active,Orphanet,ORPHA:64753,Disorder,[Disease],Spinocerebellar ataxia with axonal neuropathy type 2,"[AOA2, Ataxia-oculomotor apraxia type 2, SCAN 2, SCAR1]","A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.","[615217, 606002]",,,,,Ataxia with Oculomotor Apraxia Type 2,TRUE,FALSE,Active +GARD:12861,Active,Orphanet,ORPHA:572550,Subtype of disorder,[Clinical subtype],RFVT3-related riboflavin transporter deficiency,"[RTD3, Riboflavin transporter deficiency 3]",,[614707],,,,,"Brown-Vialetto-Van Laere syndrome 2 ",TRUE,FALSE,Active +GARD:12862,Active,Orphanet,ORPHA:263543,Disorder,[Disease],Generalized peeling skin syndrome,"[Generalized PSS, Generalized deciduous skin]","Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.","[616265, 270300]",,,,,Generalized peeling skin syndrome,TRUE,FALSE,Active +GARD:12863,Active,Orphanet,ORPHA:263534,Disorder,[Disease],Acral peeling skin syndrome,"[Acral PSS, Acral deciduous skin, Localized PSS, Localized deciduous skin]",A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.,[609796],,,,,Acral peeling skin syndrome,TRUE,FALSE,Active +GARD:12864,Active,Orphanet,ORPHA:140905,Disorder,[Disease],Hyperlipidemia due to hepatic triacylglycerol lipase deficiency,"[Hyperlipidemia due to HL deficiency, Hyperlipidemia due to HTGL deficiency, Hyperlipidemia due to hepatic lipase deficiency, Hyperlipidemia due to hepatic triglyceride lipase deficiency]","Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia disorder characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.",[614025],,,,,Hepatic lipase deficiency,TRUE,FALSE,Active +GARD:12865,Legacy,GARD,,,,,,,,,,,,Anemia diseritropoyética congénita tipo 1,TRUE,TRUE,Active +GARD:12867,Active,Orphanet,ORPHA:96253,Disorder,[Disease],Cushing disease,"[Corticotroph pituitary adenoma, Pituitary corticotroph micro-adenoma, Pituitary-dependent Cushing syndrome]",Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.,[219090],,,,,ACTH-secreting pituitary adenoma,TRUE,FALSE,Active +GARD:12868,Active,Orphanet,ORPHA:209943,Disorder,[Disease],IRVAN syndrome,[Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome],"A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.",,,,,,IRVAN syndrome,TRUE,FALSE,Active +GARD:12869,Legacy,GARD,,,,,,,,,,,,Anemia diseritropoyética congénita,TRUE,TRUE,Active +GARD:12870,Legacy,GARD,,,,,,,,,,,,Deficiencia de alfa-1 antitripsina,TRUE,TRUE,Active +GARD:12871,Legacy,GARD,,,,,,,,,,,,Síndrome de la arteria mesentérica superior,TRUE,TRUE,Active +GARD:12872,Legacy,GARD,,,,,,,,,,,,Hypothyroidism,FALSE,FALSE,Draft +GARD:12873,Legacy,GARD,,,,,,,,,,,,spinocerebellar degeneration,FALSE,FALSE,Draft +GARD:12874,Active,Orphanet+OMIM,OMIM:613848,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type x","[Oi, type x]","Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera ({1:Christiansen et al., 2010}).",[613848],[216812],[Osteogenesis imperfecta type 3],[8695],,Osteogenesis imperfecta type X,TRUE,FALSE,Active +GARD:12875,Active,Orphanet+OMIM,OMIM:610968,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xi","[Oi, type xi]","Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by {1:Alanay et al., 2010}).",[610968],"[216820, 216812]","[Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[8695, 8696]",,Osteogenesis imperfecta type XI,TRUE,FALSE,Active +GARD:12876,Legacy,GARD,,,,,,,,,,,,preterm labor,FALSE,FALSE,Draft +GARD:12877,Legacy,GARD,,,,,,,,,,,,Enfermedad de Alexander,TRUE,TRUE,Active +GARD:12878,Legacy,GARD,,,,,,,,,,,,occipital neuralgia,FALSE,FALSE,Draft +GARD:12879,Legacy,GARD,,,,,,,,,,,,Hereditary palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:1288,Active,Orphanet,ORPHA:79304,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 2,"[BSEP deficiency, PFIC2]","Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.","[615878, 601847]",,,,,Progressive familial intrahepatic cholestasis type 2,TRUE,FALSE,Active +GARD:12880,Legacy,GARD,,,,,,,,,,,,Diffuse palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12881,Legacy,GARD,,,,,,,,,,,,Disease with diffuse palmoplantar keratoderma as a major feature,FALSE,FALSE,Draft +GARD:12882,Legacy,GARD,,,,,,,,,,,,Isolated diffuse palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12883,Legacy,GARD,,,,,,,,,,,,Focal palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12885,Legacy,GARD,,,,,,,,,,,,Isolated focal palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12886,Legacy,GARD,,,,,,,,,,,,Punctate palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12887,Legacy,GARD,,,,,,,,,,,,Disease with punctate palmoplantar keratoderma as a major feature,FALSE,FALSE,Draft +GARD:12888,Legacy,GARD,,,,,,,,,,,,Isolated punctate palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12889,Active,Orphanet,ORPHA:209908,Disorder,[Disease],Isolated childhood apraxia of speech,"[Isolated CAS, Isolated developmental verbal dyspraxia, Pure CAS, Pure childhood apraxia of speech, Speech and language disorder with orofacial dyspraxia, Speech-language disorder type 1]","A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits.",[602081],,,,,Childhood apraxia of speech,TRUE,FALSE,Active +GARD:1289,Active,Orphanet,ORPHA:79305,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 3,[PFIC3],"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.",[602347],,,,,Progressive familial intrahepatic cholestasis type 3,TRUE,FALSE,Active +GARD:12890,Legacy,GARD,,,,,,,,,,,,Proliferating trichilemmal cysts,TRUE,FALSE,Retired +GARD:12891,Legacy,GARD,,,,,,,,,,,,Enfermedad de almacenamiento de glucógeno tipo 5,TRUE,TRUE,Active +GARD:12892,Active,Orphanet,ORPHA:352563,Disorder,[Disease],Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,"[COXPD16, Combined oxidative phosphorylation defect type 16]","A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.",[615395],,,,,Combined oxidative phosphorylation deficiency 16,TRUE,FALSE,Active +GARD:12893,Active,Orphanet,ORPHA:314051,Disorder,[Disease],Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,"[COXPD12, Combined oxidative phosphorylation defect type 12, LTBL]","A rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.",[614924],,,,,Combined oxidative phosphorylation deficiency,TRUE,FALSE,Active +GARD:12894,Active,Orphanet,ORPHA:448237,Disorder,[Disease],Zika virus disease,[Zika virus infection],"Zika virus disease is an emerging Aedes mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.",,,,,,Zika virus infection,TRUE,FALSE,Active +GARD:12895,Legacy,GARD,,,,,,,,,,,,Síndrome de Rubinstein-Taybi,TRUE,TRUE,Active +GARD:12896,Legacy,GARD,,,,,,,,,,,,Síndrome de Turner,TRUE,TRUE,Active +GARD:12897,Legacy,GARD,,,,,,,,,,,,Síndrome de Adams-Oliver,TRUE,TRUE,Active +GARD:12898,Legacy,GARD,,,,,,,,,,,,Insensibilidad congénita al dolor con anhidrosis,TRUE,TRUE,Active +GARD:12899,Legacy,GARD,,,,,,,,,,,,Síndrome de Guillain-Barré,TRUE,TRUE,Active +GARD:12900,Active,Orphanet+OMIM,OMIM:612164,Subtype of disorder,"[Clinical syndrome subtype, Disease subtype]",Developmental and epileptic encephalopathy 4,"[Epileptic encephalopathy, early infantile, 4]","Developmental and epileptic encephalopathy-4 (DEE4) is a neurologic disorder characterized by the onset of tonic seizures in early infancy (usually in first months of life). In most cases, seizures increase in frequency and become refractory. Affected individuals have profoundly impaired psychomotor development with poor head control, limited or no ability to walk, spastic quadriplegia, and poor or absent speech. Brain imaging may show cortical atrophy and hypomyelination. EEG studies in the more severe cases show a burst-suppression pattern, consistent with a clinical diagnosis of Ohtahara syndrome, and/or hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Less severely affected individuals have later onset of seizures (summary by {5:Saitsu et al., 2008}; {3:Hamdan et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}.",[612164],"[1934, 33069]","[Early infantile epileptic encephalopathy, Dravet syndrome]","[10430, 9255]",,Early infantile epileptic encephalopathy 4,TRUE,FALSE,Active +GARD:12901,Active,Orphanet+OMIM,OMIM:615905,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta,"[Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta]","Developmental and epileptic encephalopathy-25 with amelogenesis imperfecta (DEE25) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in early infancy. Most patients present with seizures in the neonatal period, which is often associated with status epilepticus. However, there is phenotypic variability, and some patients have onset of seizures later in infancy. Affected individuals show global developmental delay with intellectual disability and poor speech and communication. The seizures may remit somewhat with age, but there are persistent neurologic symptoms, including ataxia, spasticity, and abnormal involuntary movements. In addition to neurologic deficits, patients also have dental anomalies with amelogenesis imperfecta (summary by {4:Thevenon et al., 2014} and {3:Schossig et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615905],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,Early infantile epileptic encephalopathy 25,TRUE,FALSE,Active +GARD:12902,Legacy,GARD,,,,,,,,,,,,Artrogriposis múltiple congénita,TRUE,TRUE,Active +GARD:12903,Active,Orphanet,ORPHA:401777,Disorder,[Disease],Optic atrophy-intellectual disability syndrome,"[BBSOAS, Bosch-Boonstra-Schaaf optic atrophy syndrome]","Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.",[615722],,,,,Optic atrophy-intellectual disability syndrome,TRUE,FALSE,Draft +GARD:12904,Legacy,GARD,,,,,,,,,,,,Síndrome de Troyer,TRUE,TRUE,Active +GARD:12905,Legacy,GARD,,,,,,,,,,,,Síndrome de opsoclono-mioclono,TRUE,TRUE,Active +GARD:12906,Legacy,GARD,,,,,,,,,,,,CYP2C19-related poor drug metabolism,FALSE,FALSE,Active +GARD:12907,Legacy,GARD,,,,,,,,,,,,intersex,FALSE,FALSE,Draft +GARD:12908,Legacy,GARD,,,,,,,,,,,,Duarte Galactosemia,TRUE,FALSE,Active +GARD:12909,Legacy,GARD,,,,,,,,,,,,Nevo de Becker,TRUE,TRUE,Active +GARD:12910,Legacy,GARD,,,,,,,,,,,,Síndrome del nevo de Becker,TRUE,TRUE,Active +GARD:12911,Legacy,GARD,,,,,,,,,,,,Scleritis,TRUE,FALSE,Active +GARD:12912,Legacy,GARD,,,,,,,,,,,,Hippocampal sclerosis,FALSE,FALSE,Draft +GARD:12913,Active,Orphanet,ORPHA:500533,Disorder,[Disease],Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,[PMSE syndrome],"A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others.",[611087],,,,,"Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome",TRUE,FALSE,Active +GARD:12914,Legacy,GARD,,,,,,,,,,,,Bird Mites,FALSE,FALSE,Draft +GARD:12915,Active,Orphanet,ORPHA:319612,Subtype of disorder,[Etiological subtype],X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency,"[X-linked MSMD due to IKBKG deficiency, X-linked MSMD due to NEMO deficiency, X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency]",,[300636],,,,,NF-kappa B Essential Modulator Deficiency,TRUE,FALSE,Active +GARD:12916,Active,Orphanet,ORPHA:71275,Disorder,[Disease],Rh deficiency syndrome,[Rh-null syndrome],"A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the RHAG gene), while the amorph type is due to mutations at the RH locus itself.","[268150, 617970]",,,,,Rh deficiency syndrome,TRUE,FALSE,Active +GARD:12917,Legacy,GARD,,,,,,,,,,,,Multifocal avascular necrosis,FALSE,FALSE,Draft +GARD:12918,Legacy,GARD,,,,,,,,,,,,Granulomatosis con poliangeítis,TRUE,TRUE,Active +GARD:12919,Active,Orphanet,ORPHA:293181,Disorder,[Disease],Malignant migrating focal seizures of infancy,"[Epilepsy of infancy with migrating focal seizures, MMPEI, MMPSI, MPEI, MPSI, Malignant migrating partial epilepsy of infancy, Malignant migrating partial seizures of infancy, Migrating partial epilepsy of infancy, Migrating partial seizures of infancy]","A rare epileptic and developmental encephalopathy characterized by seizure onset during the first months of life, focal seizures arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability.","[614959, 613722, 615338, 616645]",,,,,Malignant migrating partial seizures of infancy,TRUE,FALSE,Active +GARD:1292,Active,Orphanet,ORPHA:1416,Disorder,[Disease],Familial calcium pyrophosphate deposition,"[Calcium pyrophosphate dihydrate crystal deposition disease, Familial CC, Familial CPPD, Familial articular chondrocalcinosis, Hereditary CC, Hereditary articular chondrocalcinosis, Hereditary calcium pyrophosphate deposition]","A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA).","[600668, 118600]",,,,,Chondrocalcinosis 2,TRUE,FALSE,Active +GARD:12920,Legacy,GARD,,,,,,,,,,,,Pulmonary embolism,FALSE,FALSE,Draft +GARD:12921,Active,Orphanet,ORPHA:79406,Disorder,[Disease],Late-onset junctional epidermolysis bullosa,"[Epidermolysis bullosa progressiva, JEB-lo, Late-onset JEB]","A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries.",,,,,,Late-onset junctional epidermolysis bullosa,TRUE,FALSE,Active +GARD:12922,Active,Orphanet,ORPHA:79402,Disorder,[Disease],Intermediate generalized junctional epidermolysis bullosa,"[Generalized atrophic benign epidermolysis bullosa, Generalized junctional epidermolysis bullosa, non-Herlitz type, Intermediate generalized JEB, Junctional epidermolysis bullosa generalisata mitis, Junctional epidermolysis bullosa, Disentis type]","A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.",[226650],,,,,"Generalized junctional epidermolysis bullosa, non-Herlitz type",TRUE,FALSE,Active +GARD:12923,Active,Orphanet,ORPHA:251393,Disorder,[Disease],Localized junctional epidermolysis bullosa,"[JEB-nH loc, Junctional epidermolysis bullosa, non-Herlitz localized type, Localized JEB]","A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.",[226650],,,,,"Localized junctional epidermolysis bullosa, non-Herlitz type",TRUE,FALSE,Active +GARD:12924,Active,Orphanet,ORPHA:275555,Disorder,[Disease],Preeclampsia,,"A hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.","[614595, 609404, 609402, 609403, 189800]",,,,,Preeclampsia,TRUE,FALSE,Draft +GARD:12925,Active,Orphanet,ORPHA:199276,Disorder,[Disease],Familial multiple lipomatosis,,"Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.",[151900],,,,,Familial multiple lipomatosis,TRUE,FALSE,Active +GARD:12926,Legacy,GARD,,,,,,,,,,,,Esclerodermia,FALSE,TRUE,Active +GARD:12927,Active,Orphanet,ORPHA:90059,Disorder,[Particular clinical situation in a disease or syndrome],Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma,,,,,,,,Sudden sensorineural hearing loss,TRUE,FALSE,Active +GARD:12928,Active,Orphanet,ORPHA:94,Group of disorders,[Clinical group],Astrocytoma,[Astrocytic tumor],A complex group of benign and malignant cerebral tumors arising at any age.,[137800],,,,,Astrocytoma,TRUE,FALSE,Draft +GARD:12929,Legacy,GARD,,,,,,,,,,,,Hereditary hemorrhagic telangiectasia type 1,TRUE,FALSE,Draft +GARD:12930,Legacy,GARD,,,,,,,,,,,,Anonychia congenita,TRUE,FALSE,Active +GARD:12931,Active,Orphanet,ORPHA:404448,Disorder,[Malformation syndrome],ADNP syndrome,"[ADNP-related syndromic intellectual disability-autism spectrum disorder, HVDAS, Helsmoortel-Van Der Aa Syndrome]","A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.",[615873],,,,,ADNP syndrome,TRUE,FALSE,Active +GARD:12932,Legacy,GARD,,,,,,,,,,,,Loss-of-function variants in HIVEP2,FALSE,FALSE,Retired +GARD:12933,Legacy,GARD,,,,,,,,,,,,Anemia de Diamond-Blackfan,TRUE,TRUE,Active +GARD:12934,Legacy,GARD,,,,,,,,,,,,Síndrome de inmunodesregulación - poliendocrinopatía - enteropatía ligada a X,TRUE,TRUE,Active +GARD:12935,Legacy,GARD,,,,,,,,,,,,Holoprosencefalia,TRUE,TRUE,Active +GARD:12936,Legacy,GARD,,,,,,,,,,,,Uterus didelphys,FALSE,FALSE,Draft +GARD:12937,Legacy,GARD,,,,,,,,,,,,Lance-Adams syndrome,FALSE,FALSE,Draft +GARD:12938,Legacy,GARD,,,,,,,,,,,,Higroma quístico,TRUE,FALSE,Draft +GARD:12939,Legacy,GARD,,,,,,,,,,,,Juvenile spondyloarthropathy,TRUE,FALSE,Active +GARD:1294,Legacy,GARD,,,,,,,,,,,,Lethal recessive chondrodysplasia,TRUE,FALSE,Active +GARD:12940,Legacy,GARD,,,,,,,,,,,,IRF6-Related disorders,TRUE,FALSE,Active +GARD:12941,Legacy,GARD,,,,,,,,,,,,Nuclear gene-encoded Leigh syndrome,TRUE,FALSE,Active +GARD:12942,Legacy,GARD,,,,,,,,,,,,Hypophosphatemic,TRUE,FALSE,Retired +GARD:12943,Active,Orphanet,ORPHA:89936,Disorder,[Disease],X-linked hypophosphatemia,"[X-linked hypophosphatemic rickets, XLH]","X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.",[307800],,,,,X-linked hypophosphatemia,TRUE,FALSE,Active +GARD:12944,Legacy,GARD,,,,,,,,,,,,Enfermedad de Charcot-Marie-Tooth tipo 4,TRUE,TRUE,Active +GARD:12945,Legacy,GARD,,,,,,,,,,,,Síndrome de Leigh,TRUE,TRUE,Active +GARD:12946,Legacy,GARD,,,,,,,,,,,,optic nerve drusen,FALSE,FALSE,Draft +GARD:12947,Legacy,GARD,,,,,,,,,,,,Síndrome de Johanson-Blizzard,TRUE,TRUE,Active +GARD:12948,Legacy,GARD,,,,,,,,,,,,Síndrome SHORT,TRUE,TRUE,Active +GARD:12949,Active,Orphanet+OMIM,OMIM:613477,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 5,"[Epileptic encephalopathy, early infantile, 5]","Developmental and epileptic encephalopathy-5 (DEE5) is a neurologic disorder characterized by global developmental delay and the onset of tonic seizures or infantile spasms in the first months of life. The seizures tend to be refractory to treatment, and EEG shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severely impaired psychomotor development with lack of visual attention, poor head control, feeding difficulties, microcephaly, and spastic quadriplegia. Brain imaging may show cerebral atrophy and hypomyelination (summary by {4:Saitsu et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}.",[613477],[3451],[Infantile spasms syndrome],[7887],,Early infantile epileptic encephalopathy 5,FALSE,FALSE,Draft +GARD:12953,Legacy,GARD,,,,,,,,,,,,Myalgic encephalomyelitis,FALSE,FALSE,Retired +GARD:12954,Legacy,GARD,,,,,,,,,,,,Confluent and reticulated papillomatosis,FALSE,FALSE,Draft +GARD:12955,Legacy,GARD,,,,,,,,,,,,Lichen planus,FALSE,FALSE,Draft +GARD:12957,Legacy,GARD,,,,,,,,,,,,Neisseria Elongata,FALSE,FALSE,Draft +GARD:12958,Active,Orphanet+OMIM,OMIM:613652,Subtype of disorder,[Disease subtype],C1q deficiency,,"C1q deficiency is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see {152700}) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by {16:Topaloglu et al., 1996} and {17:Vassallo et al., 2007}).",[613652],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,C1q deficiency,TRUE,FALSE,Active +GARD:12959,Active,Orphanet,ORPHA:182058,Group of disorders,[Clinical group],Primary orthostatic hypotension,,,,,,,,Primary orthostatic hypotension,TRUE,FALSE,Active +GARD:1296,Active,Orphanet,ORPHA:79345,Disorder,[Malformation syndrome],Brachytelephalangic chondrodysplasia punctata,,"Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.","[302950, 602497]",,,,,"Chondrodysplasia punctata 1, X-linked recessive",TRUE,FALSE,Active +GARD:12960,Legacy,GARD,,,,,,,,,,,,Síndrome HELLP,TRUE,TRUE,Active +GARD:12961,Legacy,GARD,,,,,,,,,,,,Calcium hydroxyapatite deposition disease,FALSE,FALSE,Draft +GARD:12962,Legacy,GARD,,,,,,,,,,,,Síndrome de duplicación 22q11.2,TRUE,TRUE,Active +GARD:12963,Active,Orphanet,ORPHA:352328,Disorder,[Disease],MEGDEL syndrome,"[3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome, 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome]","MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.",[614739],,,,,MEGDEL syndrome,TRUE,FALSE,Active +GARD:12964,Active,Orphanet,ORPHA:66634,Disorder,[Disease],Dilated cardiomyopathy with ataxia,"[3-methylglutaconic aciduria type 5, DCMA syndrome, MGA5]","Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.",[610198],,,,,DCMA syndrome,TRUE,FALSE,Active +GARD:12965,Legacy,GARD,,,,,,,,,,,,TMEM70 defect,TRUE,FALSE,Active +GARD:12966,Active,Orphanet,ORPHA:289902,Group of disorders,[Clinical group],3-methylglutaconic aciduria,,,,,,,,3-methylglutaconic aciduria,TRUE,FALSE,Draft +GARD:12967,Legacy,GARD,,,,,,,,,,,,Reticulohistiocytoma,TRUE,FALSE,Active +GARD:12968,Legacy,GARD,,,,,,,,,,,,Variantes del gen MTHFR,FALSE,TRUE,Active +GARD:12969,Legacy,GARD,,,,,,,,,,,,Histiocytic sarcoma,FALSE,FALSE,Draft +GARD:12970,Legacy,GARD,,,,,,,,,,,,Queratocono,TRUE,TRUE,Active +GARD:12971,Legacy,GARD,,,,,,,,,,,,Ataxia telangiectasia,TRUE,TRUE,Active +GARD:12972,Legacy,GARD,,,,,,,,,,,,Colestasis intrahepática del embarazo,TRUE,TRUE,Active +GARD:12973,Legacy,GARD,,,,,,,,,,,,Madelung deformity,TRUE,FALSE,Active +GARD:12974,Legacy,GARD,,,,,,,,,,,,Lipedematous Scalp,TRUE,FALSE,Active +GARD:12975,Legacy,GARD,,,,,,,,,,,,Cuero cabelludo lipedematoso,TRUE,TRUE,Active +GARD:12976,Active,Orphanet,ORPHA:319558,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,"[MSMD due to complete IL12B deficiency, MSMD due to complete interleukin 12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency]",Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.,[614890],,,,,IL12B deficiency,TRUE,FALSE,Draft +GARD:12977,Active,Orphanet,ORPHA:748,Group of disorders,[Clinical group],Mendelian susceptibility to mycobacterial diseases,"[Idiopathic infection caused by BCG or atypical mycobacteria, MSMD, Mendelian susceptibility to atypical mycobacteria, Mendelian susceptibility to mycobacterial infections]","Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.",,,,,,Mendelian susceptibility to mycobacterial diseases,TRUE,FALSE,Active +GARD:12978,Active,Orphanet,ORPHA:401768,Disorder,[Disease],Proximal myopathy with extrapyramidal signs,,"Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.",[615673],,,,,Myopathy with extrapyramidal signs,TRUE,FALSE,Active +GARD:12979,Legacy,GARD,,,,,,,,,,,,Cutis laxa,TRUE,TRUE,Active +GARD:1298,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia punctata Sheffield type,TRUE,FALSE,Active +GARD:12980,Active,Orphanet,ORPHA:529468,Disorder,[Disease],Monoclonal mast cell activation syndrome,[Monoclonal MCAD],"A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others.",,,,,,Monoclonal mast cell activation syndrome,TRUE,FALSE,Active +GARD:12981,Legacy,GARD,,,,,,,,,,,,Mast cell activation syndrome,TRUE,FALSE,Active +GARD:12982,Legacy,GARD,,,,,,,,,,,,"Alacrima, achalasia, and mental retardation syndrome",FALSE,FALSE,Retired +GARD:12983,Active,Orphanet,ORPHA:90045,Disorder,[Disease],Hereditary folate malabsorption,[Congenital folate malabsorption],"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.",[229050],,,,,Hereditary folate malabsorption,TRUE,FALSE,Active +GARD:12984,Legacy,GARD,,,,,,,,,,,,Displasia cleidocraneal,TRUE,TRUE,Draft +GARD:12985,Legacy,GARD,,,,,,,,,,,,Abdominal wall defect,FALSE,FALSE,Draft +GARD:12986,Active,Orphanet,ORPHA:99901,Disorder,[Disease],Acyl-CoA dehydrogenase 9 deficiency,[ACAD9 deficiency],"A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain.",[611126],,,,,ACAD9 deficiency,TRUE,FALSE,Draft +GARD:12987,Active,Orphanet,ORPHA:314381,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 6,"[Familial dysautonomia with contractures, HSAN6, Hereditary sensory and autonomic neuropathy type VI]",,[614653],,,,,Hereditary sensory and autonomic neuropathy type 6,TRUE,FALSE,Draft +GARD:12988,Legacy,GARD,,,,,,,,,,,,retinal scarring,FALSE,FALSE,Draft +GARD:12989,Legacy,GARD,,,,,,,,,,,,X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome,FALSE,FALSE,Retired +GARD:1299,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia situs inversus imperforate anus polydactyly,TRUE,FALSE,Active +GARD:12990,Legacy,GARD,,,,,,,,,,,,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,FALSE,FALSE,Draft +GARD:12991,Active,Orphanet,ORPHA:498359,Disorder,[Disease],Aquagenic palmoplantar keratoderma,"[Aquagenic keratoderma, Aquagenic syringeal acrokeratoderma, Aquagenic wrinkling of the palms, Transient reactive papulotranslucent acrokeratoderma]","A rare skin disease characterized by transient wrinkling of the skin, edema, formation of whitish papules, pruritus, burning sensation, or pain, on the palms and/or soles in response to contact with water. Duration of exposure and water temperature affect the rate of development and intensity of the lesions. The condition is more common in females than in males and frequently occurs in patients with cystic fibrosis.",,,,,,Aquagenic syringeal acrokeratoderma,TRUE,FALSE,Active +GARD:12992,Legacy,GARD,,,,,,,,,,,,Leptomeningeal carcinoma,FALSE,FALSE,Retired +GARD:12993,Legacy,GARD,,,,,,,,,,,,Síndrome SeSAME,TRUE,TRUE,Active +GARD:12994,Legacy,GARD,,,,,,,,,,,,Craniofacial microsomia,TRUE,FALSE,Active +GARD:12995,Legacy,GARD,,,,,,,,,,,,hypertension,FALSE,FALSE,Retired +GARD:12996,Legacy,GARD,,,,,,,,,,,,SCN1A-related seizure disorders,TRUE,FALSE,Active +GARD:12997,Legacy,GARD,,,,,,,,,,,,Epilepsia relacionada al gen SCN1A,TRUE,TRUE,Active +GARD:12998,Legacy,GARD,,,,,,,,,,,,Acquired hemophagocytic lymphohistiocytosis,FALSE,FALSE,Active +GARD:12999,Legacy,GARD,,,,,,,,,,,,MED13L haploinsufficiency syndrome,TRUE,FALSE,Active +GARD:13,Active,Orphanet,ORPHA:1065,Disorder,[Malformation syndrome],Aniridia-cerebellar ataxia-intellectual disability syndrome,[Gillespie syndrome],"A rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.",[206700],,,,,Gillespie syndrome,TRUE,FALSE,Active +GARD:130,Legacy,GARD,,,,,,,,,,,,Florid cystic endosalpingiosis of the uterus,TRUE,FALSE,Active +GARD:1300,Active,Orphanet,ORPHA:2098,Disorder,[Malformation syndrome],"Acromesomelic dysplasia, Grebe type","[Chondrodysplasia, Grebe type]","A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.",[200700],,,,,"Chondrodysplasia, Grebe type",TRUE,FALSE,Active +GARD:13000,Legacy,GARD,,,,,,,,,,,,Chromosome 18q deletion,TRUE,FALSE,Active +GARD:13001,Legacy,GARD,,,,,,,,,,,,Síndrome de Schwartz Jampel,TRUE,TRUE,Active +GARD:13002,Legacy,GARD,,,,,,,,,,,,Costochondritis,FALSE,FALSE,Retired +GARD:13003,Active,Orphanet,ORPHA:90283,Disorder,[Disease],Lupus erythematosus tumidus,[Intermittent cutaneous lupus],"A rare form of chronic cutaneous lupus erythematosus characterized by extreme photosensitivity with intermittent formation of erythematous, edematous, urticarial-like, smooth plaques on sun-exposed skin areas. The lesions heal without scarring. The course of the disease is benign, and development of systemic lupus erythematosus is infrequent. Most patients do not have lupus-related autoantibodies. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and increased dermal mucin deposition without involvement of the dermoepidermal junction.",,,,,,Lupus erythematosus tumidus,TRUE,FALSE,Active +GARD:13004,Active,Orphanet,ORPHA:890,Disorder,[Disease],Hepatic veno-occlusive disease,[Sinusoidal obstruction syndrome],"A rare vascular liver disease characterized by toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins and sinusoids. Clinical manifestations include painful hepatomegaly, jaundice, and fluid retention that manifests by weight gain, edemas, and ascites.",,,,,,Hepatic veno-occlusive disease,TRUE,FALSE,Active +GARD:13005,Legacy,GARD,,,,,,,,,,,,retinal detachment,FALSE,FALSE,Retired +GARD:13006,Legacy,GARD,,,,,,,,,,,,Hypomagnesemia,FALSE,FALSE,Retired +GARD:13007,Active,Orphanet,ORPHA:330041,Disorder,[Disease],Hemoglobin M disease,[M hemoglobinopathy],"A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.","[617971, 617973]",,,,,"Methemoglobinemia, beta-globin type",TRUE,FALSE,Active +GARD:13009,Legacy,GARD,,,,,,,,,,,,Tornwaldt’s cyst,FALSE,FALSE,Draft +GARD:1301,Active,Orphanet,ORPHA:289,Disorder,[Malformation syndrome],Ellis Van Creveld syndrome,"[Chondroectodermal dysplasia, Mesodermic dysplasia]","A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.","[618123, 225500, 617088]",,,,,Ellis-Van Creveld syndrome,TRUE,FALSE,Active +GARD:13010,Legacy,GARD,,,,,,,,,,,,Síndrome de Costello,TRUE,TRUE,Active +GARD:13011,Active,Orphanet,ORPHA:156152,Group of disorders,[Clinical group],Anti-neutrophil cytoplasmic antibody-associated vasculitis,"[AAV, ANCA-associated vasculitis, Antineutrophil cytoplasmic antibody-associated vasculitis]",,,,,,,ANCA-associated vasculitis,TRUE,FALSE,Active +GARD:13013,Legacy,GARD,,,,,,,,,,,,Elizabethkingia anophelis infection,TRUE,FALSE,Active +GARD:13015,Active,Orphanet,ORPHA:66628,Subtype of disorder,[Etiological subtype],Obesity due to congenital leptin deficiency,,Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.,[614962],,,,,Obesity due to congenital leptin deficiency,TRUE,FALSE,Active +GARD:13016,Active,Orphanet,ORPHA:238569,Disorder,[Disease],Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,"[IL10-related early-onset IBD, IL10-related early-onset inflammatory bowel disease]","A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.","[612567, 613148]",,,,,Autosomal recessive early-onset inflammatory bowel disease,TRUE,FALSE,Active +GARD:13017,Legacy,GARD,,,,,,,,,,,,Infección del virus Zika,TRUE,TRUE,Active +GARD:13018,Legacy,GARD,,,,,,,,,,,,10q22.3q23 microdeletion syndrome,TRUE,FALSE,Active +GARD:13019,Active,Orphanet+OMIM,OMIM:616277,Subtype of disorder,[Disease subtype],Mitochondrial short-chain enoyl-coa hydratase 1 deficiency,,"Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by {3:Peters et al., 2014}).",[616277],[255241],[Leigh syndrome with leukodystrophy],[17238],,Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,TRUE,FALSE,Active +GARD:1302,Legacy,GARD,,,,,,,,,,,,"Chondrodysplasia punctata, humero-metacarpal type",TRUE,FALSE,Active +GARD:13020,Active,Orphanet,ORPHA:79490,Disorder,[Malformation syndrome],Microcystic lymphatic malformation,"[Capillary lymphangioma, Capillary lymphatic malformation, Cutaneous lymphangioma circumscriptum, Microcystic infiltrating lymphatic malformation, Microcystic lymphangioma, Superficial lymphangioma, Superficial lymphatic malformation]","A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Microcystic lesions consist of cysts smaller than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.",,,,,,Microcystic lymphatic malformation,TRUE,FALSE,Active +GARD:13021,Legacy,GARD,,,,,,,,,,,,Central nervous system germ cell tumor,FALSE,FALSE,Draft +GARD:13022,Legacy,GARD,,,,,,,,,,,,Germ cells tumors,TRUE,FALSE,Active +GARD:13023,Legacy,GARD,,,,,,,,,,,,Alezzandrini syndrome,TRUE,FALSE,Active +GARD:13024,Legacy,GARD,,,,,,,,,,,,Síndrome de antisintetasas,TRUE,TRUE,Active +GARD:13025,Active,Orphanet,ORPHA:79414,Disorder,[Disease],Woolly hair nevus,[Wooly hair nevus],"Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.",[162900],,,,,Epidermal nevus,FALSE,FALSE,Active +GARD:13026,Legacy,GARD,,,,,,,,,,,,Nevo epidérmico,FALSE,TRUE,Active +GARD:13027,Legacy,GARD,,,,,,,,,,,,Bier spots,TRUE,FALSE,Active +GARD:13028,Legacy,GARD,,,,,,,,,,,,Dissociative seizures,TRUE,FALSE,Active +GARD:13029,Legacy,GARD,,,,,,,,,,,,Episodic angioedema with eosinophilia,TRUE,FALSE,Active +GARD:1303,Active,Orphanet,ORPHA:178,Disorder,[Disease],Chordoma,[Notochordal sarcoma],Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.,[215400],,,,,Chordoma,TRUE,FALSE,Active +GARD:13030,Active,Orphanet,ORPHA:3226,Disorder,[Malformation syndrome],Deafness-lymphedema-leukemia syndrome,"[Emberger syndrome, Hearing loss-lymphedema-leukemia syndrome]","A rare genetic disease characterized by the association of primary lymphedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing.",[614038],,,,,Deafness-lymphedema-leukemia syndrome,TRUE,FALSE,Active +GARD:13031,Legacy,GARD,,,,,,,,,,,,Tubulin-Related Cortical Dysgenesis,TRUE,FALSE,Draft +GARD:13032,Active,Orphanet,ORPHA:300570,Disorder,[Disease],Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,,"A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.",[614039],,,,,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,TRUE,FALSE,Active +GARD:13033,Legacy,GARD,,,,,,,,,,,,aphasia,FALSE,FALSE,Retired +GARD:13034,Active,Orphanet,ORPHA:97253,Group of disorders,[Category],Neuroendocrine tumor of pancreas,"[PNET, Pancreatic NET, Pancreatic neuroendocrine tumor, Well-differentiated NEN of pancreas, Well-differentiated neuroendocrine neoplasm of pancreas, Well-differentiated pancreatic NEN, Well-differentiated pancreatic neuroendocrine neoplasm]","Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms).",,,,,,Pancreatic neuroendocrine tumor,TRUE,FALSE,Active +GARD:13035,Legacy,GARD,,,,,,,,,,,,Neonatal abstinence syndrome,FALSE,FALSE,Retired +GARD:13037,Legacy,GARD,,,,,,,,,,,,Miastenia grave,TRUE,TRUE,Active +GARD:13038,Legacy,GARD,,,,,,,,,,,,Endometrial Serous Adenocarcinoma,FALSE,FALSE,Draft +GARD:13039,Legacy,GARD,,,,,,,,,,,,Urothelial carcinoma,FALSE,FALSE,Draft +GARD:13040,Active,Orphanet,ORPHA:542592,Disorder,[Disease],Necrobiosis lipoidica,[Oppenheim-Urbach disease],"A rare skin disease characterized by enlarging, annular plaques with red-brown edges and atrophic, yellow-brown, telangiectatic centers. The lesions are commonly asymptomatic, but affected skin areas may be fragile, and painful ulcerations develop in many cases. In rare cases, development of squamous cell carcinoma within longstanding lesions has been reported. The lower legs, especially the shins, are the most frequently involved site. The condition is often associated with diabetes mellitus.",,,,,,Necrobiosis lipoidica,TRUE,FALSE,Active +GARD:13041,Active,Orphanet+OMIM,OMIM:612304,Subtype of disorder,[Disease subtype],"Thrombophilia due to protein c deficiency, autosomal recessive","[Protein c deficiency, autosomal recessive, proc deficiency, autosomal recessive]","Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia ({10:Millar et al., 2000}).",[612304],[745],[Severe hereditary thrombophilia due to congenital protein C deficiency],[16544],,Autosomal recessive protein C deficiency,TRUE,FALSE,Active +GARD:13042,Legacy,GARD,,,,,,,,,,,,Multicentric carpotarsal osteolysis syndrome,TRUE,FALSE,Active +GARD:13043,Active,Orphanet,ORPHA:329224,Disorder,[Malformation syndrome],Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome,[PACS1-related syndrome],"Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed.",[615009],,,,,PACS1-related syndrome,TRUE,FALSE,Active +GARD:13044,Legacy,GARD,,,,,,,,,,,,Epidermoid brain cyst,TRUE,FALSE,Active +GARD:13045,Legacy,GARD,,,,,,,,,,,,Dystonia syndrome,FALSE,FALSE,Retired +GARD:13046,Active,Orphanet,ORPHA:363976,Disorder,[Disease],Giant cell tumor of bone,"[GCT of bone, Osteoclastoma]","A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells), mononuclear macrophages, and mononuclear stromal cells which secrete pro-myeloid and pro-osteoclastic factors. Metastasis and malignant transformation are rare, but the recurrence rate is high.",,,,,,Giant cell tumor of bone,TRUE,FALSE,Active +GARD:13047,Active,Orphanet,ORPHA:363504,Group of disorders,[Category],Germ cell tumor of testis,[Testicular germ cell tumor],,[273300],,,,,Testicular germ cell tumor,TRUE,FALSE,Active +GARD:13048,Legacy,GARD,,,,,,,,,,,,Nevus comedonicus,TRUE,FALSE,Active +GARD:13049,Legacy,GARD,,,,,,,,,,,,Neuropatía óptica hereditaria de Leber,TRUE,TRUE,Active +GARD:1305,Active,Orphanet,ORPHA:1429,Disorder,[Disease],Benign hereditary chorea,"[BHC, Benign familial chorea]","A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.","[215450, 118700]",,,,,Benign hereditary chorea,TRUE,FALSE,Active +GARD:13050,Legacy,GARD,,,,,,,,,,,,Pituitary macroadenoma,FALSE,FALSE,Retired +GARD:13051,Legacy,GARD,,,,,,,,,,,,Amaurosis congénita de Leber,TRUE,TRUE,Active +GARD:13052,Legacy,GARD,,,,,,,,,,,,Deficiencia de LCHAD,TRUE,TRUE,Active +GARD:13053,Legacy,GARD,,,,,,,,,,,,Mitochondrial DNA Deletion Syndromes,TRUE,FALSE,Draft +GARD:13054,Legacy,GARD,,,,,,,,,,,,Urticaria acuagénica,TRUE,TRUE,Active +GARD:13055,Legacy,GARD,,,,,,,,,,,,Prurito acuagénico,TRUE,TRUE,Active +GARD:13056,Active,Orphanet,ORPHA:86816,Disorder,[Disease],Congenital analbuminemia,,Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).,[616000],,,,,Congenital analbuminemia,TRUE,FALSE,Active +GARD:13057,Legacy,GARD,,,,,,,,,,,,Lymphatic malformation,FALSE,FALSE,Retired +GARD:13058,Active,Orphanet,ORPHA:65743,Disorder,[Malformation syndrome],Autosomal dominant multiple pterygium syndrome,[Distal arthrogryposis type 8],"A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.",[178110],,,,,Autosomal dominant multiple pterygium syndrome,TRUE,FALSE,Active +GARD:13059,Active,Orphanet,ORPHA:329457,Disorder,[Disease],Distal arthrogryposis type 5D,"[DA5D, Distal arthrogryposis type 5 without ophthalmoparesis, Distal arthrogryposis type 5 without ophthalmoplegia]","Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.",[615065],,,,,Distal arthrogryposis type 5D,TRUE,FALSE,Active +GARD:1306,Legacy,GARD,,,,,,,,,,,,Choreoacanthocytosis amyotrophic,TRUE,FALSE,Active +GARD:13060,Active,Orphanet,ORPHA:439218,Disorder,[Disease],KCNQ2-related epileptic encephalopathy,"[KCNQ2-NEE, KCNQ2-related neonatal epileptic encephalopathy]","KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.",[613720],,,,,KCNQ2-Related Disorders,TRUE,FALSE,Active +GARD:13062,Legacy,GARD,,,,,,,,,,,,Enfermedades relacionadas al gen KCNQ2,TRUE,TRUE,Active +GARD:13063,Active,Orphanet,ORPHA:217008,Disorder,[Malformation syndrome],Bockenheimer syndrome,[Genuine diffuse phlebectasia],"A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur.",,,,,,Genuine diffuse phlebectasia,TRUE,FALSE,Active +GARD:13064,Legacy,GARD,,,,,,,,,,,,Artropatía pseudoreumatoide progresiva infantil,TRUE,TRUE,Active +GARD:13067,Legacy,GARD,,,,,,,,,,,,Enfermedad de Gerstmann-Straussler-Scheinker,TRUE,TRUE,Active +GARD:13068,Legacy,GARD,,,,,,,,,,,,Secuencia de Pierre Robin,TRUE,TRUE,Active +GARD:13070,Active,Orphanet,ORPHA:48162,Subtype of disorder,[Clinical subtype],Lewis-Sumner syndrome,"[MADSAM, Multifocal acquired demyelinating sensory and motor neuropathy]",Lewis-Sumner syndrome (LSS) is a rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.,,,,,,Lewis-Sumner syndrome,TRUE,FALSE,Active +GARD:13071,Legacy,GARD,,,,,,,,,,,,Malignant Eye Neoplasm,FALSE,FALSE,Draft +GARD:13072,Active,Orphanet,ORPHA:30924,Disorder,[Disease],Primary hypomagnesemia with secondary hypocalcemia,"[HOMG1, HSH, Hypomagnesemia caused by selective magnesium malabsorption, Hypomagnesemia intestinal type 1, Intestinal hypomagnesemia with secondary hypocalcemia, PHSH]","Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.",[602014],,,,,Primary hypomagnesemia with secondary hypocalcemia,TRUE,FALSE,Active +GARD:13073,Active,Orphanet,ORPHA:64754,Disorder,[Disease],Nevus comedonicus syndrome,,"A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.",[617025],,,,,Nevus comedonicus syndrome,TRUE,FALSE,Active +GARD:13074,Legacy,GARD,,,,,,,,,,,,tetrology of fallot,FALSE,FALSE,Draft +GARD:13075,Active,Orphanet,ORPHA:497188,Disorder,[Disease],Diffuse intrinsic pontine glioma,[DIPG],"A rare glial tumor characterized by a highly aggressive, diffusely infiltrative pontine lesion generally occurring in children, affecting local nerve fiber tracts and spreading contiguously to involve adjacent structures, but also metastasizing within the central nervous system. Patients mostly present with a short history of symptoms, typically including the classic triad of multiple cranial neuropathies, long tract signs, and ataxia. Signs and symptoms of increased intracranial pressure may present due to obstructive hydrocephalus. Prognosis is poor and not related to histological grade.",,,,,,Diffuse intrinsic pontine glioma,TRUE,FALSE,Active +GARD:13076,Legacy,GARD,,,,,,,,,,,,Síndrome de Wernicke-Korsakoff,TRUE,TRUE,Active +GARD:13077,Legacy,GARD,,,,,,,,,,,,Malformaciones de Chiari,FALSE,TRUE,Active +GARD:13078,Legacy,GARD,,,,,,,,,,,,Ano imperforado,TRUE,TRUE,Active +GARD:13079,Legacy,GARD,,,,,,,,,,,,Telangiectasia macularis eruptive perstans,TRUE,FALSE,Active +GARD:1308,Legacy,GARD,,,,,,,,,,,,Chorioretinopathy dominant form microcephaly,TRUE,FALSE,Retired +GARD:13080,Legacy,GARD,,,,,,,,,,,,Segmental spinal dysgenesis,FALSE,FALSE,Draft +GARD:13081,Legacy,GARD,,,,,,,,,,,,Chromosome 12 pericentric inversion,FALSE,FALSE,Draft +GARD:13082,Legacy,GARD,,,,,,,,,,,,Chromosome insertion,FALSE,FALSE,Draft +GARD:13083,Legacy,GARD,,,,,,,,,,,,Liquen plano pilar,TRUE,TRUE,Active +GARD:13084,Legacy,GARD,,,,,,,,,,,,Enfermedad relacionada con IgG4,TRUE,TRUE,Active +GARD:13085,Active,Orphanet+OMIM,OMIM:614558,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 13,"[Epileptic encephalopathy, early infantile, 13]","Developmental and epileptic encephalopathy-13 (DEE13) is a neurologic disorder characterized by the onset of intractable seizures in the first year of life. Some patients may present with seizures in the first days, whereas others present later (between 2 and 7 months of age) after normal or only mild developmental delay. Affected individuals have profoundly impaired development or developmental regression after the onset of seizures, and show severe intellectual disability, poor or absent language, hypotonia, and are usually unable to walk. EEG shows variable abnormalities, including multifocal and generalized spike-wave discharges, sometimes with status epilepticus or hypsarrhythmia. Brain imaging may show cerebral atrophy (summary by {4:Ohba et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[614558],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,SCN8A encephalopathy,TRUE,FALSE,Active +GARD:13086,Legacy,GARD,,,,,,,,,,,,Enfermedad de Pelizaeus-Merzbacher,TRUE,TRUE,Active +GARD:13087,Legacy,GARD,,,,,,,,,,,,Pediatric acute-onset neuropsychiatric syndrome,TRUE,FALSE,Active +GARD:13088,Legacy,GARD,,,,,,,,,,,,Síndrome de enfermedad postorgásmica,TRUE,TRUE,Active +GARD:13089,Legacy,GARD,,,,,,,,,,,,Genetic testing result,FALSE,FALSE,Internal +GARD:1309,Legacy,GARD,,,,,,,,,,,,Choroid plexus cyst,TRUE,FALSE,Active +GARD:13090,Legacy,GARD,,,,,,,,,,,,Small Intestinal Adenocarcinoma,TRUE,FALSE,Active +GARD:13091,Legacy,GARD,,,,,,,,,,,,Enfermedad de von Willebrand,TRUE,TRUE,Active +GARD:13092,Legacy,GARD,,,,,,,,,,,,Primary spinal cord neoplasm,TRUE,FALSE,Draft +GARD:13093,Legacy,GARD,,,,,,,,,,,,OPHN1 syndrome,TRUE,FALSE,Active +GARD:13094,Legacy,GARD,,,,,,,,,,,,Leucodistrofia,TRUE,TRUE,Active +GARD:13095,Legacy,GARD,,,,,,,,,,,,Aspergillus terreus infection,FALSE,FALSE,Draft +GARD:13096,Legacy,GARD,,,,,,,,,,,,Paternal uniparental disomy of chromosome 4,FALSE,FALSE,Draft +GARD:13097,Legacy,GARD,,,,,,,,,,,,Enfermedad de Vogt-Koyanagi-Harada,TRUE,TRUE,Active +GARD:13098,Legacy,GARD,,,,,,,,,,,,Distrofia muscular de Becker,TRUE,TRUE,Active +GARD:13099,Legacy,GARD,,,,,,,,,,,,Microdeleción 15q11.2,TRUE,TRUE,Active +GARD:131,Legacy,GARD,,,,,,,,,,,,Myeloid sarcoma,TRUE,FALSE,Retired +GARD:13100,Legacy,GARD,,,,,,,,,,,,Trimetilaminuria,TRUE,TRUE,Active +GARD:13101,Active,Orphanet,ORPHA:199247,Disorder,[Disease],Corticosteroid-binding globulin deficiency,[Transcortin deficiency],"Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.",[611489],,,,,Corticosteroid-binding globulin deficiency,TRUE,FALSE,Active +GARD:13102,Legacy,GARD,,,,,,,,,,,,Síndrome de Williams,TRUE,TRUE,Active +GARD:13103,Legacy,GARD,,,,,,,,,,,,Adult T-cell leukemia/lymphoma,TRUE,FALSE,Active +GARD:13104,Legacy,GARD,,,,,,,,,,,,Fibro-adipose vascular anomaly,TRUE,FALSE,Active +GARD:13105,Active,Orphanet,ORPHA:1652,Disorder,[Disease],Dent disease,"[Dent syndrome, Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis, Renal Fanconi syndrome with nephrocalcinosis and renal stones, X-linked recessive hypercalciuric hypophosphatemic rickets, X-linked recessive nephrolithiasis]","A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria, nephrolithiasis/nephrocalcinosis, and progressive renal failure, among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal phenotype in association with CLCN5 variants, and Dent disease type 2, often characterized by the addition of extra renal manifestations in association with OCRL1 variants.","[310468, 300009, 308990, 300554, 300555]",,,,,Dent disease,TRUE,FALSE,Active +GARD:13106,Legacy,GARD,,,,,,,,,,,,Orofacial Granulomatosis,TRUE,FALSE,Active +GARD:13107,Legacy,GARD,,,,,,,,,,,,Adenosquamous carcinoma of the endometrium,TRUE,FALSE,Active +GARD:13108,Active,Orphanet,ORPHA:494433,Disorder,[Disease],MIRAGE syndrome,"[Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome, Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome]","A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed.",[617053],,,,,MIRAGE syndrome,TRUE,FALSE,Active +GARD:13109,Legacy,GARD,,,,,,,,,,,,Liposarcoma mixoide,TRUE,TRUE,Active +GARD:13110,Active,Orphanet,ORPHA:438266,Subtype of disorder,[Clinical subtype],Progressive encephalomyelitis with rigidity and myoclonus,[PERM],"A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.",[184850],,,,,Progressive encephalomyelitis with rigidity and myoclonus,TRUE,FALSE,Active +GARD:13111,Active,Orphanet,ORPHA:459033,Disorder,[Disease],Ataxia-oculomotor apraxia type 4,[AOA4],"A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.",[616267],,,,,Ataxia with oculomotor apraxia type 4,TRUE,FALSE,Active +GARD:13112,Active,Orphanet+OMIM,OMIM:615217,Subtype of disorder,[Disease subtype],Ataxia-oculomotor apraxia 3,,"AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life ({1:Al Tassan et al., 2012}).\n\nFor a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 ({208920}).",[615217],[64753],[Spinocerebellar ataxia with axonal neuropathy type 2],[12860],,Ataxia with oculomotor apraxia type 3,TRUE,FALSE,Active +GARD:13113,Active,Orphanet+OMIM,OMIM:616483,Subtype of disorder,[Disease subtype],Infantile liver failure syndrome 2,,"Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by {1:Haack et al., 2015}).\n\nFor a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 ({615438}).",[616483],[464724],[Fever-associated acute infantile liver failure syndrome],[17820],,Infantile liver failure syndrome 2,TRUE,FALSE,Active +GARD:13114,Active,Orphanet,ORPHA:370088,Disorder,[Disease],Acute infantile liver failure-multisystemic involvement syndrome,,"A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.",[615438],,,,,Infantile liver failure syndrome 1,TRUE,FALSE,Active +GARD:13115,Legacy,GARD,,,,,,,,,,,,Arthrofibrosis,FALSE,FALSE,Draft +GARD:13116,Legacy,GARD,,,,,,,,,,,,Síndrome de Poland,TRUE,TRUE,Active +GARD:13117,Legacy,GARD,,,,,,,,,,,,cerebral small vessel disease,FALSE,FALSE,Draft +GARD:13118,Legacy,GARD,,,,,,,,,,,,Trisomía del cromosoma 20,TRUE,TRUE,Active +GARD:13119,Legacy,GARD,,,,,,,,,,,,Granulomatous lobular mastitis,TRUE,FALSE,Active +GARD:1312,Legacy,GARD,,,,,,,,,,,,Choroideremia hypopituitarism,TRUE,FALSE,Active +GARD:13120,Legacy,GARD,,,,,,,,,,,,Distrofia macular viteliforme de Best,TRUE,TRUE,Active +GARD:13121,Legacy,GARD,,,,,,,,,,,,Melanoma,FALSE,FALSE,Draft +GARD:13122,Legacy,GARD,,,,,,,,,,,,hyperemesis,FALSE,FALSE,Draft +GARD:13123,Legacy,GARD,,,,,,,,,,,,Enfermedad de Hirschsprung,TRUE,TRUE,Active +GARD:13124,Active,Orphanet,ORPHA:70591,Disorder,[Disease],Chronic thromboembolic pulmonary hypertension,[CTEPH],"A rare complication of acute pulmonary embolism (PE), either symptomatic or not, that is characterized by fibrotic intravascular material occlusion of pulmonary arteries in combination with a secondary microvasculopathy of vessels less than 500 µm. The consequence is an increase in pulmonary vascular resistance (PVR) and progressive right heart failure.",[612862],,,,,Chronic thromboembolic pulmonary hypertension,TRUE,FALSE,Active +GARD:13125,Active,Orphanet,ORPHA:435651,Disorder,[Disease],CIDEC-related familial partial lipodystrophy,"[CIDEC-related FPLD, FPLD5]","A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.",[615238],,,,,"Lipodystrophy, familial partial, type 5",TRUE,FALSE,Active +GARD:13126,Active,Orphanet,ORPHA:435660,Disorder,[Disease],LIPE-related familial partial lipodystrophy,"[FPLD6, LIPE-related FPLD]","A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.",[615980],,,,,LIPE-related familial partial lipodystrophy,TRUE,FALSE,Active +GARD:13127,Legacy,GARD,,,,,,,,,,,,Neuropatía óptica isquémica anterior,TRUE,TRUE,Active +GARD:13128,Legacy,GARD,,,,,,,,,,,,Síndrome de Townes-Brocks,TRUE,TRUE,Active +GARD:1313,Active,Orphanet,ORPHA:1313,Disorder,[Disease],Infantile choroidocerebral calcification syndrome,,"A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.",[215480],,,,,Infantile choroidocerebral calcification syndrome,TRUE,FALSE,Active +GARD:13131,Legacy,GARD,,,,,,,,,,,,Hematohidrosis,TRUE,FALSE,Active +GARD:13132,Legacy,GARD,,,,,,,,,,,,Encefalopatía epiléptica infantil temprana,TRUE,TRUE,Active +GARD:13133,Legacy,GARD,,,,,,,,,,,,Posterior cerebral artery,FALSE,FALSE,Draft +GARD:13134,Legacy,GARD,,,,,,,,,,,,Posterior Cerebral Artery Stroke,FALSE,FALSE,Draft +GARD:13135,Legacy,GARD,,,,,,,,,,,,enteric neuropathy,FALSE,FALSE,Draft +GARD:13136,Active,Orphanet+OMIM,OMIM:616083,Subtype of disorder,"[Etiological subtype, Disease subtype]","Intellectual developmental disorder, autosomal dominant 30","[Mental retardation, autosomal dominant 30]",,[616083],"[436151, 178469]","[Intellectual disability-expressive aphasia-facial dysmorphism syndrome, Autosomal dominant non-syndromic intellectual disability]","[12107, 17724]",,Autosomal dominant intellectual disability 30,TRUE,FALSE,Active +GARD:13137,Active,Orphanet,ORPHA:369962,Subtype of disorder,[Clinical subtype],"Methylmalonic acidemia with homocystinuria, type cblX","[Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX, Methylmalonic aciduria with homocystinuria, type cblX]",,[309541],,,,,Methylmalonic acidemia and homocysteinemia type cblX,TRUE,FALSE,Active +GARD:13138,Legacy,GARD,,,,,,,,,,,,Pénfigo vulgar,TRUE,TRUE,Active +GARD:13139,Legacy,GARD,,,,,,,,,,,,Pénfigo vulgar,FALSE,FALSE,Retired +GARD:13140,Legacy,GARD,,,,,,,,,,,,Reactive airway dysfunction syndrome,FALSE,FALSE,Draft +GARD:13141,Legacy,GARD,,,,,,,,,,,,Enfermedad de Behçet,TRUE,TRUE,Active +GARD:13142,Active,Orphanet,ORPHA:623801,Disorder,[Disease],Acute flaccid myelitis,,,,,,,,Acute flaccid myelitis,TRUE,FALSE,Active +GARD:13145,Legacy,GARD,,,,,,,,,,,,DEAF1 mutation,FALSE,FALSE,Draft +GARD:13147,Legacy,GARD,,,,,,,,,,,,Chromosome 19p13.3 microdeletion,FALSE,FALSE,Draft +GARD:13148,Legacy,GARD,,,,,,,,,,,,appendix adenocarcinoma,TRUE,FALSE,Retired +GARD:13149,Legacy,GARD,,,,,,,,,,,,Pelvic venous congestion syndrome,FALSE,FALSE,Draft +GARD:1315,Legacy,GARD,,,,,,,,,,,,Christian Demyer Franken syndrome,TRUE,FALSE,Active +GARD:13150,Legacy,GARD,,,,,,,,,,,,Cordoma,TRUE,TRUE,Active +GARD:13151,Legacy,GARD,,,,,,,,,,,,Helicobacter pylori infection,FALSE,FALSE,Draft +GARD:13152,Legacy,GARD,,,,,,,,,,,,Carcinoma indiferenciado nasosinusal,TRUE,TRUE,Active +GARD:13153,Legacy,GARD,,,,,,,,,,,,Fungal infection,FALSE,FALSE,Draft +GARD:13154,Active,Orphanet,ORPHA:609,Disorder,[Disease],Tibial muscular dystrophy,"[Distal myopathy, Udd type, Distal titinopathy, Finnish tibial muscular dystrophy, TMD, Udd myopathy]","Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.",[600334],,,,,Tibial muscular dystrophy,TRUE,FALSE,Draft +GARD:13155,Active,Orphanet,ORPHA:441452,Subtype of disorder,[Clinical subtype],Early-onset lamellar cataract,,,"[613763, 116100, 600881]",,,,,Early-onset lamellar cataract,TRUE,FALSE,Draft +GARD:13156,Active,Orphanet,ORPHA:46484,Group of disorders,[Clinical group],Oligodendroglial tumor,,Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).,,,,,,Oligodendroglial Tumor,TRUE,FALSE,Draft +GARD:13157,Active,Orphanet,ORPHA:47044,Disorder,[Disease],Hereditary papillary renal cell carcinoma,[HPRCC],Hereditary papillary renal cell carcinoma (HPRCC) is a familial renal cancer syndrome characterised by a predisposition for developing bilateral and multifocal type 1 papillary renal carcinomas.,[605074],,,,,Hereditary papillary renal cell carcinoma,TRUE,FALSE,Draft +GARD:13158,Active,Orphanet,ORPHA:36236,Disorder,[Disease],Staphylococcal scalded skin syndrome,"[Generalized exfoliative disease, SSSS]","A rare staphylococcal toxemia caused by epidermolytic toxins of Staphylococcus aureus and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants.",,,,,,Staphylococcal scalded skin syndrome,TRUE,FALSE,Draft +GARD:13159,Legacy,GARD,,,,,,,,,,,,Familial isolated dilated cardiomyopathy,TRUE,FALSE,Draft +GARD:1316,Legacy,GARD,,,,,,,,,,,,Christian Johnson Angenieta syndrome,TRUE,FALSE,Active +GARD:13160,Active,Orphanet,ORPHA:177,Disorder,[Disease],Rhizomelic chondrodysplasia punctata,[RCDP],"A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures.","[222765, 215100, 600121, 616716]",,,,,Rhizomelic chondrodysplasia punctata,TRUE,FALSE,Active +GARD:13161,Legacy,GARD,,,,,,,,,,,,Panhypopituitarism,TRUE,FALSE,Draft +GARD:13162,Legacy,GARD,,,,,,,,,,,,PROP1-Related Combined Pituitary Hormone Deficiency,TRUE,FALSE,Draft +GARD:13163,Active,Orphanet,ORPHA:293355,Group of disorders,[Clinical group],Methylmalonic acidemia without homocystinuria,[Methylmalonic aciduria without homocystinuria],Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.,,,,,,Methylmalonic acidemia without homocystinuria,TRUE,FALSE,Active +GARD:13164,Legacy,GARD,,,,,,,,,,,,Vitamin B12-unresponsive methylmalonic acidemia,TRUE,FALSE,Retired +GARD:13165,Legacy,GARD,,,,,,,,,,,,Congenital cavernous malformation of the spine,FALSE,FALSE,Internal +GARD:13166,Legacy,GARD,,,,,,,,,,,,Enfermedad granulomatosa crónica,TRUE,TRUE,Active +GARD:13167,Active,Orphanet,ORPHA:411788,Disorder,[Disease],Familial isolated trichomegaly,,"Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.",[190330],,,,,Familial isolated trichomegaly,TRUE,FALSE,Draft +GARD:13168,Active,Orphanet,ORPHA:454887,Disorder,[Disease],Corticobasal syndrome,,"A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.",,,,,,Corticobasal syndrome,TRUE,FALSE,Draft +GARD:13169,Active,Orphanet,ORPHA:263463,Disorder,[Disease],CHST3-related skeletal dysplasia,"[Chondrodysplasia with congenital joint dislocations, CHST3 type, SDCD, CHST3 type, Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type]","CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.",[143095],,,,,CHST3-related skeletal dysplasia,TRUE,FALSE,Active +GARD:13170,Legacy,GARD,,,,,,,,,,,,Xp22.3 microdeletion syndrome,TRUE,FALSE,Active +GARD:13171,Active,Orphanet,ORPHA:448242,Disorder,[Malformation syndrome],Autosomal recessive brachyolmia,"[Brachyolmia, Hobaek/Toledo type]","Brachyolmia, recessive type is a form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.","[271530, 271630]",,,,,Autosomal recessive brachyolmia,TRUE,FALSE,Draft +GARD:13172,Legacy,GARD,,,,,,,,,,,,Colon Signet Ring Cell Adenocarcinoma,TRUE,FALSE,Draft +GARD:13173,Active,Orphanet,ORPHA:639,Disorder,[Disease],Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG,"[Anti-MAG neuropathy, Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein]","A demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.",,,,,,Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG,TRUE,FALSE,Draft +GARD:13174,Active,Orphanet+OMIM,OMIM:157640,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1","[Progressive external ophthalmoplegia, autosomal dominant 1]","Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({3:Filosto et al., 2003}; {11:Luoma et al., 2004}).\n\nPEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes ({7:Lamantea et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA Deletions\n\nSee also PEOA2 ({609283}), caused by mutation in the ANT1 gene (SLC25A4; {103220}) on chromosome 4q34; PEOA3 ({609286}), caused by mutation in the TWNK gene ({606075}) on chromosome 10q24; PEOA4 ({610131}), caused by mutation in the POLG2 gene ({604983}) on chromosome 17q; PEOA5 ({613077}), caused by mutation in the RRM2B gene ({604712}) on chromosome 8q23; and PEOA6 ({615156}), caused by mutation in the DNA2 gene ({601810}) on chromosome 10q.",[157640],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,Autosomal dominant progressive external ophthalmoplegia,TRUE,FALSE,Draft +GARD:13175,Active,Orphanet,ORPHA:319319,Disorder,[Disease],Renal medullary carcinoma,,"Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.",,,,,,Renal medullary carcinoma,TRUE,FALSE,Active +GARD:13176,Legacy,GARD,,,,,,,,,,,,Insomnio familiar fatal,TRUE,TRUE,Active +GARD:13177,Active,Orphanet,ORPHA:88618,Disorder,[Disease],S-adenosylhomocysteine hydrolase deficiency,,"A rare, multisystemic inherited metabolic diseases characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.",[613752],,,,,Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency,TRUE,FALSE,Active +GARD:13178,Legacy,GARD,,,,,,,,,,,,Secondary carnitine deficiency,FALSE,FALSE,Draft +GARD:13179,Active,Orphanet+OMIM,OMIM:616977,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 43",,,[616977],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,HIVEP2-related intellectual disability,TRUE,FALSE,Active +GARD:13180,Legacy,GARD,,,,,,,,,,,,Sarna costrosa,FALSE,TRUE,Active +GARD:13181,Legacy,GARD,,,,,,,,,,,,Syndactyly,FALSE,FALSE,Active +GARD:13182,Legacy,GARD,,,,,,,,,,,,Lipomatosis simétrica múltiple,TRUE,TRUE,Active +GARD:13183,Legacy,GARD,,,,,,,,,,,,Anemia de Fanconi,TRUE,TRUE,Active +GARD:13184,Legacy,GARD,,,,,,,,,,,,Trisomy 18 mosaicism,FALSE,FALSE,Draft +GARD:13185,Legacy,GARD,,,,,,,,,,,,Parálisis periódica hipocalémica,TRUE,TRUE,Active +GARD:13186,Active,Orphanet,ORPHA:158003,Disorder,[Disease],Xanthoma disseminatum,[Montgomery syndrome],"A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision.",,,,,,Xanthoma disseminatum,TRUE,FALSE,Active +GARD:13187,Legacy,GARD,,,,,,,,,,,,Diabetes insípida central,TRUE,TRUE,Active +GARD:13188,Legacy,GARD,,,,,,,,,,,,Diabetes insípida nefrogénica,TRUE,TRUE,Active +GARD:13189,Legacy,GARD,,,,,,,,,,,,Miocardiopatía hipertrófica familiar,TRUE,TRUE,Active +GARD:1319,Active,Orphanet,ORPHA:182,Disorder,[Disease],Chromomycosis,[Chromoblastomycosis],"Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.",,,,,,Chromoblastomycosis,TRUE,FALSE,Active +GARD:13190,Legacy,GARD,,,,,,,,,,,,Síndrome de Dravet,TRUE,TRUE,Active +GARD:13191,Legacy,GARD,,,,,,,,,,,,Gastrosquisis,TRUE,TRUE,Active +GARD:13192,Legacy,GARD,,,,,,,,,,,,Chronic Granulomatous Meningitis,FALSE,FALSE,Draft +GARD:13193,Legacy,GARD,,,,,,,,,,,,Hereditary alpha tryptasemia syndrome,FALSE,FALSE,Active +GARD:13194,Legacy,GARD,,,,,,,,,,,,Síndrome de Cowden,TRUE,TRUE,Active +GARD:13195,Legacy,GARD,,,,,,,,,,,,Hemocromatosis,FALSE,TRUE,Active +GARD:13196,Legacy,GARD,,,,,,,,,,,,epidural lipomatosis,FALSE,FALSE,Draft +GARD:13197,Active,Orphanet+OMIM,OMIM:615369,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 94,"[Epileptic encephalopathy, childhood-onset]","Developmental and epileptic encephalopathy-94 (DEE94) is a severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and impaired intellectual development (summary by {1:Carvill et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615369],"[2382, 1942]","[Myoclonic-astatic epilepsy, Lennox-Gastaut syndrome]","[2169, 9912]",,CHD2 myoclonic encephalopathy,TRUE,FALSE,Active +GARD:13198,Active,Orphanet,ORPHA:500062,Disorder,[Disease],Infantile-onset periodic fever-panniculitis-dermatosis syndrome,"[ORAS, OTULIN deficiency, OTULIN-related autoinflammatory syndrome, Otulipenia]","A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection.",[617099],,,,,Otulipenia,TRUE,FALSE,Active +GARD:13199,Active,Orphanet,ORPHA:85136,Disorder,[Disease],Cystic leukoencephalopathy without megalencephaly,[CLWM],"Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.",[612951],,,,,RNAse T2-deficient leukoencephalopathy,TRUE,FALSE,Active +GARD:132,Active,Orphanet,ORPHA:137807,Group of disorders,[Clinical group],Primary cutaneous amyloidosis,"[PLCA, Primary localized cutaneous amyloidosis]","Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis (see these terms).",,,,,,Primary cutaneous amyloidosis,TRUE,FALSE,Active +GARD:1320,Active,Orphanet,ORPHA:1437,Disorder,[Malformation syndrome],Ring chromosome 1 syndrome,"[Ring 1, Ring chromosome 1, r(1) syndrome]","Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.",,,,,,Ring chromosome 1,TRUE,FALSE,Active +GARD:13200,Active,Orphanet,ORPHA:255235,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy","[mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy]","A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of hypotonia, failure to thrive, global developmental delay, and persistent lactic acidosis. The disease course is variable and ranges from intractable diarrhea and respiratory failure with fatal outcome in early infancy to a milder phenotype with survival into childhood. Additional reported features include sensorineural hearing loss, microcephaly, seizures, pigmentary retinopathy, and renal tubulopathy.",[612075],,,,,RRM2B-related mitochondrial DNA depletion syndrome,TRUE,FALSE,Active +GARD:13201,Active,Orphanet,ORPHA:401948,Disorder,[Disease],Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,[CA-VA deficiency],"A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.",[615751],,,,,Carbonic anhydrase VA deficiency,TRUE,FALSE,Active +GARD:13202,Active,Orphanet,ORPHA:88639,Disorder,[Disease],Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,"[HIBCH deficiency, Methacrylic aciduria, Valine metabolic defect]","Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.",[250620],,,,,HIBCH deficiency,TRUE,FALSE,Active +GARD:13203,Legacy,GARD,,,,,,,,,,,,Neurodegeneración con acumulación cerebral de hierro,TRUE,TRUE,Active +GARD:13204,Legacy,GARD,,,,,,,,,,,,Neurodegeneración asociada a la proteína beta-propeller,TRUE,TRUE,Active +GARD:13205,Legacy,GARD,,,,,,,,,,,,Síndrome de taquicardia postural ortostática,FALSE,TRUE,Active +GARD:13206,Active,Orphanet,ORPHA:251019,Disorder,[Malformation syndrome],2q32q33 microdeletion syndrome,"[Del(2)(q32), Del(2)(q32q33), Monosomy 2q32, Monosomy 2q32q33]","2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.",[612313],,,,,SATB2-associated syndrome,TRUE,FALSE,Active +GARD:13207,Legacy,GARD,,,,,,,,,,,,Síndrome de Marfan,TRUE,TRUE,Active +GARD:13208,Legacy,GARD,,,,,,,,,,,,Hypertrophic olivary degeneration,TRUE,FALSE,Active +GARD:13209,Active,Orphanet,ORPHA:95496,Disorder,[Morphological anomaly],Pituitary stalk interruption syndrome,"[Ectopic neurohypophysis, PSIS]","Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.",,,,,,Pituitary stalk interruption syndrome,TRUE,FALSE,Active +GARD:13210,Legacy,GARD,,,,,,,,,,,,Aracnodactilia congénita contractural,TRUE,TRUE,Active +GARD:13211,Legacy,GARD,,,,,,,,,,,,Síndrome de pterigium poplíteo,TRUE,TRUE,Active +GARD:13212,Legacy,GARD,,,,,,,,,,,,Síndrome de enclaustramiento,TRUE,TRUE,Active +GARD:13213,Legacy,GARD,,,,,,,,,,,,Síndrome del pañal azul,TRUE,TRUE,Active +GARD:13214,Legacy,GARD,,,,,,,,,,,,Displasia frontometafisaria,TRUE,TRUE,Active +GARD:13215,Active,Orphanet,ORPHA:217071,Group of disorders,[Clinical group],Renal cell carcinoma,[RCC],,,,,,,Renal cell carcinoma,TRUE,FALSE,Active +GARD:13216,Legacy,GARD,,,,,,,,,,,,Gigantismo,TRUE,TRUE,Active +GARD:13217,Legacy,GARD,,,,,,,,,,,,Acromegalia,TRUE,TRUE,Active +GARD:13218,Active,Orphanet,ORPHA:221043,Disorder,[Disease],Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,[POIKTMP syndrome],"Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.",[615704],,,,,"Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis",TRUE,FALSE,Active +GARD:13219,Active,Orphanet,ORPHA:289539,Disorder,[Disease],BAP1-related tumor predisposition syndrome,[Tumor susceptibility linked to germline BAP1 mutations],"BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.",[614327],,,,,BAP1 tumor predisposition syndrome,TRUE,FALSE,Active +GARD:1322,Active,Orphanet,ORPHA:1438,Disorder,[Malformation syndrome],Ring chromosome 10 syndrome,"[Ring 10, Ring chromosome 10]","An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.",,,,,,Ring chromosome 10,TRUE,FALSE,Active +GARD:13220,Legacy,GARD,,,,,,,,,,,,Lethal congenital contracture syndrome 11,TRUE,FALSE,Active +GARD:13221,Active,Orphanet,ORPHA:397933,Disorder,[Disease],Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,[IQSEC2-related syndromic intellectual disability],"Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes.",,,,,,IQSEC2,TRUE,FALSE,Active +GARD:13222,Active,Orphanet,ORPHA:363454,Subtype of disorder,[Etiological subtype],BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,"[BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures, SMALED2]",,[615290],,,,,"Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2",TRUE,FALSE,Active +GARD:13223,Legacy,GARD,,,,,,,,,,,,Primary bone cancer,TRUE,FALSE,Active +GARD:13224,Legacy,GARD,,,,,,,,,,,,Liver cancer,FALSE,FALSE,Draft +GARD:13225,Legacy,GARD,,,,,,,,,,,,Tonsillar rhabdomyoma,TRUE,FALSE,Draft +GARD:13226,Legacy,GARD,,,,,,,,,,,,Kidney carcinoma,FALSE,FALSE,Retired +GARD:13227,Legacy,GARD,,,,,,,,,,,,Endometriosis of the diaphragm,FALSE,FALSE,Draft +GARD:13228,Legacy,GARD,,,,,,,,,,,,Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase,TRUE,FALSE,Retired +GARD:13229,Legacy,GARD,,,,,,,,,,,,Hepatitis B virus,FALSE,FALSE,Draft +GARD:1323,Active,Orphanet,ORPHA:1580,Disorder,[Malformation syndrome],Distal monosomy 10p,"[Distal 10p deletion, Monosomy 10pter, Telomeric deletion 10p]","Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.",[601362],,,,,Chromosome 10p deletion,TRUE,FALSE,Active +GARD:13230,Legacy,GARD,,,,,,,,,,,,Urticarial vasculitis,FALSE,FALSE,Draft +GARD:13231,Legacy,GARD,,,,,,,,,,,,Síndrome de tortuosidad arterial,TRUE,TRUE,Active +GARD:13232,Active,Orphanet,ORPHA:88619,Disorder,[Disease],Familial acute necrotizing encephalopathy,"[ADANE, Recurrent acute necrotizing encephalopathy]","Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.",[608033],,,,,Infection-induced acute encephalopathy 3,TRUE,FALSE,Active +GARD:13233,Legacy,GARD,,,,,,,,,,,,Acute necrotizing encephalopathy,TRUE,FALSE,Active +GARD:13234,Legacy,GARD,,,,,,,,,,,,central sensitization syndrome,FALSE,FALSE,Draft +GARD:13235,Active,Orphanet+OMIM,OMIM:615524,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, syndromic 12","[Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects]",,[615524],[2470],[Matthew-Wood syndrome],[713],,Syndromic microphthalmia-12,TRUE,FALSE,Active +GARD:13236,Legacy,GARD,,,,,,,,,,,,Síndrome de Proteus,TRUE,TRUE,Active +GARD:13237,Active,Orphanet,ORPHA:300912,Group of disorders,[Clinical group],Marginal zone lymphoma,,,,,,,,Marginal zone lymphoma,TRUE,FALSE,Active +GARD:13238,Legacy,GARD,,,,,,,,,,,,Extracardiac Rhabdomyoma,TRUE,FALSE,Active +GARD:13239,Legacy,GARD,,,,,,,,,,,,Cardiac rhabdomyoma,TRUE,FALSE,Draft +GARD:13240,Legacy,GARD,,,,,,,,,,,,IgM nephropathy,FALSE,FALSE,Draft +GARD:13242,Legacy,GARD,,,,,,,,,,,,Síndrome de Koolen De Vries,TRUE,TRUE,Active +GARD:13243,Legacy,GARD,,,,,,,,,,,,Síndrome de abléfaron - macrostomia,TRUE,TRUE,Active +GARD:13244,Active,Orphanet,ORPHA:85293,Disorder,[Malformation syndrome],"X-linked intellectual disability, Cabezas type",[Cabezas syndrome],"An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet.",[300354],,,,,Cabezas syndrome,TRUE,FALSE,Active +GARD:13245,Legacy,GARD,,,,,,,,,,,,Síndrome de Hermansky-Pudlak,TRUE,TRUE,Active +GARD:13246,Legacy,GARD,,,,,,,,,,,,Squamoid Eccrine Ductal Carcinoma,FALSE,FALSE,Draft +GARD:13247,Legacy,GARD,,,,,,,,,,,,Síndrome urémico hemolítico atípico,TRUE,TRUE,Active +GARD:13248,Legacy,GARD,,,,,,,,,,,,Síndrome de Usher,TRUE,TRUE,Active +GARD:13249,Legacy,GARD,,,,,,,,,,,,Raynaud,FALSE,FALSE,Draft +GARD:1325,Active,Orphanet,ORPHA:1439,Disorder,[Malformation syndrome],Ring chromosome 12 syndrome,"[Ring 12, Ring chromosome 12]","Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.",,,,,,Ring chromosome 12,TRUE,FALSE,Active +GARD:13250,Legacy,GARD,,,,,,,,,,,,Nevus epidérmico verrucoso inflamatorio linear,TRUE,TRUE,Active +GARD:13251,Legacy,GARD,,,,,,,,,,,,Porfiria,TRUE,TRUE,Active +GARD:13252,Legacy,GARD,,,,,,,,,,,,Porfiria eritropoyética congénita,TRUE,TRUE,Active +GARD:13253,Legacy,GARD,,,,,,,,,,,,Enfermedad de Whipple,TRUE,TRUE,Active +GARD:13254,Legacy,GARD,,,,,,,,,,,,Skeletal-extraskeletal angiomatosis,TRUE,FALSE,Active +GARD:13255,Legacy,GARD,,,,,,,,,,,,Enfermedad no diagnosticada,FALSE,TRUE,Internal +GARD:13256,Active,Orphanet,ORPHA:449427,Subtype of disorder,[Clinical subtype],IgG4-related pachymeningitis,[Idiopathic hypertrophic pachymeningitis],"A rare, brain inflammatory disease characterized by thickening of the dura mater of the cranium or spine with at least two histiopatholgical features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestation are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness.",,,,,,Idiopathic hypertrophic pachymeningitis,TRUE,FALSE,Active +GARD:13257,Legacy,GARD,,,,,,,,,,,,hemorrhagic migraines,FALSE,FALSE,Draft +GARD:13258,Legacy,GARD,,,,,,,,,,,,Craneofaringioma,TRUE,TRUE,Active +GARD:13259,Active,Orphanet,ORPHA:352577,Disorder,[Disease],Bainbridge-Ropers syndrome,[Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome],"A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed.",[615485],,,,,Bainbridge-Ropers syndrome,TRUE,FALSE,Active +GARD:13260,Legacy,GARD,,,,,,,,,,,,Síndrome de ROHHAD,TRUE,TRUE,Active +GARD:13261,Legacy,GARD,,,,,,,,,,,,lacrimal gland carcinoma,FALSE,FALSE,Draft +GARD:13262,Legacy,GARD,,,,,,,,,,,,Síndrome de Bannayan-Riley-Ruvalcaba,TRUE,TRUE,Active +GARD:13263,Legacy,GARD,,,,,,,,,,,,KIF1A disorder,FALSE,FALSE,Draft +GARD:13264,Active,Orphanet,ORPHA:313850,Disorder,[Disease],Infantile cerebellar-retinal degeneration,,"Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.",[614559],,,,,Infantile cerebellar retinal degeneration,TRUE,FALSE,Active +GARD:13265,Legacy,GARD,,,,,,,,,,,,Sticky platelet syndrome,FALSE,FALSE,Active +GARD:13266,Legacy,GARD,,,,,,,,,,,,Síndrome de Freeman-Sheldon,TRUE,TRUE,Active +GARD:13267,Legacy,GARD,,,,,,,,,,,,Síndrome de microdeleción 2q37,TRUE,TRUE,Active +GARD:13268,Legacy,GARD,,,,,,,,,,,,C3 glomerulopathy,FALSE,FALSE,Draft +GARD:13269,Legacy,GARD,,,,,,,,,,,,Severely deficient autobiographical memory,FALSE,FALSE,Draft +GARD:1327,Active,Orphanet,ORPHA:1703,Disorder,[Malformation syndrome],Mosaic trisomy 14,"[Mosaic trisomy chromosome 14, Trisomy 14 mosaicism]","Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.",,,,,,Mosaic trisomy 14,TRUE,FALSE,Active +GARD:13270,Legacy,GARD,,,,,,,,,,,,Extranodal nasal NK/T cell lymphoma,TRUE,FALSE,Active +GARD:13271,Legacy,GARD,,,,,,,,,,,,Deficiencia de arginasa,TRUE,TRUE,Active +GARD:13272,Legacy,GARD,,,,,,,,,,,,Autosomal recessive spinocerebellar ataxia 16,FALSE,FALSE,Draft +GARD:13273,Active,Orphanet,ORPHA:284417,Subtype of disorder,[Etiological subtype],"Phosphoserine aminotransferase deficiency, infantile/juvenile form","[PSAT deficiency, infantile/juvenile form]","Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.",[610992],,,,,Phosphoserine aminotransferase deficiency,TRUE,FALSE,Active +GARD:13274,Legacy,GARD,,,,,,,,,,,,Sudden unexplained death in childhood,FALSE,FALSE,Draft +GARD:13275,Legacy,GARD,,,,,,,,,,,,Multiple food allergy,FALSE,FALSE,Draft +GARD:13276,Legacy,GARD,,,,,,,,,,,,2q32q33 microdeletion,FALSE,FALSE,Retired +GARD:13277,Legacy,GARD,,,,,,,,,,,,HaNDL syndrome,TRUE,FALSE,Active +GARD:13278,Legacy,GARD,,,,,,,,,,,,Síndrome de la deleción 22q11.2,TRUE,TRUE,Active +GARD:13279,Legacy,GARD,,,,,,,,,,,,Deficiencia de carnitina-acilcarnitina translocasa,TRUE,TRUE,Active +GARD:1328,Active,Orphanet,ORPHA:96177,Disorder,[Malformation syndrome],Ring chromosome 15 syndrome,"[Ring 15, Ring chromosome 15]","A rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).",,,,,,Ring chromosome 15,TRUE,FALSE,Active +GARD:13280,Legacy,GARD,,,,,,,,,,,,Aspergillus flavus,FALSE,FALSE,Draft +GARD:13281,Legacy,GARD,,,,,,,,,,,,Tailgut cyst,FALSE,FALSE,Draft +GARD:13282,Legacy,GARD,,,,,,,,,,,,Liquen plano oral,FALSE,TRUE,Draft +GARD:13283,Legacy,GARD,,,,,,,,,,,,Congenital pulmonary airway malf.,FALSE,FALSE,Retired +GARD:13284,Legacy,GARD,,,,,,,,,,,,Síndrome fetal del valproato,TRUE,TRUE,Active +GARD:13285,Legacy,GARD,,,,,,,,,,,,Síndrome renal del cascanueces,TRUE,TRUE,Active +GARD:13286,Legacy,GARD,,,,,,,,,,,,Trastorno del habla y del lenguaje tipo 1,TRUE,TRUE,Draft +GARD:13287,Legacy,GARD,,,,,,,,,,,,Enfermedad de Hailey-Hailey,TRUE,TRUE,Active +GARD:13288,Legacy,GARD,,,,,,,,,,,,vulvodynia,FALSE,FALSE,Draft +GARD:13289,Legacy,GARD,,,,,,,,,,,,Osmotic demyelination syndrome,FALSE,FALSE,Draft +GARD:13290,Legacy,GARD,,,,,,,,,,,,Deficiencia familiar de LCAT,TRUE,TRUE,Active +GARD:13291,Legacy,GARD,,,,,,,,,,,,Natural killer cell deficiency,FALSE,FALSE,Draft +GARD:13292,Legacy,GARD,,,,,,,,,,,,Síndrome de Hashimoto-Pritzker,TRUE,TRUE,Active +GARD:13293,Active,Orphanet,ORPHA:98885,Subtype of disorder,[Etiological subtype],Bleeding diathesis due to glycoprotein VI deficiency,,,[614201],,,,,Glycoprotein VI deficiency,TRUE,FALSE,Active +GARD:13294,Legacy,GARD,,,,,,,,,,,,Ankyrin-B syndrome,TRUE,FALSE,Active +GARD:13295,Active,Orphanet,ORPHA:98820,Disorder,[Disease],Familial focal epilepsy with variable foci,"[FFEVF, Familial partial epilepsy with variable foci]","Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.","[617118, 604364, 617116]",,,,,Familial focal epilepsy with variable foci,TRUE,FALSE,Active +GARD:13296,Active,Orphanet,ORPHA:261272,Disorder,[Malformation syndrome],17q12 microduplication syndrome,"[Dup(17)(q12), Trisomy 17q12]","17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.",[614526],,,,,17q12 duplication,TRUE,FALSE,Active +GARD:13297,Active,Orphanet,ORPHA:261265,Disorder,[Malformation syndrome],17q12 microdeletion syndrome,"[Del(17)(q12), Monosomy 17q12]","17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.",[614527],,,,,17q12 deletion syndrome,TRUE,FALSE,Active +GARD:13298,Active,Orphanet,ORPHA:369897,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies","[mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies]","A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.",[615471],,,,,FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome,TRUE,FALSE,Active +GARD:13299,Legacy,GARD,,,,,,,,,,,,DEPDC5-Related Epilepsy,TRUE,FALSE,Active +GARD:133,Legacy,GARD,,,,,,,,,,,,"Aganglionosis, total intestinal",TRUE,FALSE,Active +GARD:13300,Legacy,GARD,,,,,,,,,,,,Síndrome de West,TRUE,TRUE,Active +GARD:13301,Legacy,GARD,,,,,,,,,,,,central sleep apnea,FALSE,FALSE,Draft +GARD:13302,Legacy,GARD,,,,,,,,,,,,Mielofibrosis,TRUE,TRUE,Active +GARD:13303,Legacy,GARD,,,,,,,,,,,,oculopalatal myoclonus,FALSE,FALSE,Draft +GARD:13304,Legacy,GARD,,,,,,,,,,,,Neuralgic amyotrophy,TRUE,FALSE,Draft +GARD:13305,Legacy,GARD,,,,,,,,,,,,Síndrome de Parsonage-Turner,TRUE,TRUE,Active +GARD:13306,Legacy,GARD,,,,,,,,,,,,Síndrome del intestino corto,TRUE,TRUE,Active +GARD:13307,Legacy,GARD,,,,,,,,,,,,Necrotizing autoimmune myopathy,TRUE,FALSE,Active +GARD:13308,Legacy,GARD,,,,,,,,,,,,Síndrome de hiperinmunoglobulinemia D,TRUE,TRUE,Active +GARD:13309,Legacy,GARD,,,,,,,,,,,,Síndrome de inmunodeficiencias combinadas severas,TRUE,TRUE,Retired +GARD:13310,Legacy,GARD,,,,,,,,,,,,Duplicacion del cromosoma 1q,FALSE,TRUE,Retired +GARD:13311,Legacy,GARD,,,,,,,,,,,,Vitamin B12 deficiency,FALSE,FALSE,Draft +GARD:13312,Legacy,GARD,,,,,,,,,,,,Inmunodeficiencia combinada grave,TRUE,TRUE,Active +GARD:13313,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos tipo clásico,TRUE,TRUE,Active +GARD:13314,Legacy,GARD,,,,,,,,,,,,Displasia fibrosa,TRUE,TRUE,Active +GARD:13315,Legacy,GARD,,,,,,,,,,,,Excited delirium syndrome,FALSE,FALSE,Draft +GARD:13316,Active,Orphanet,ORPHA:398069,Disorder,[Disease],MAGEL2-related Prader-Willi-like syndrome,"[MAGEL2-related PWLS, Schaaf-Yang syndrome]",,[615547],,,,,Schaaf-Yang syndrome,TRUE,FALSE,Active +GARD:13317,Legacy,GARD,,,,,,,,,,,,Síndrome de Carey-Fineman-Ziter,TRUE,TRUE,Active +GARD:13318,Active,Orphanet+OMIM,OMIM:613722,Subtype of disorder,"[Clinical syndrome subtype, Disease subtype]",Developmental and epileptic encephalopathy 12,"[Epileptic encephalopathy, early infantile, 12]","Developmental and epileptic encephalopathy-12 (DEE12) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first year of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show severe developmental regression and stagnation. Seizure types vary: focal seizures, infantile spasms, and generalized tonic-clonic seizures may occur, even within the same patient. EEG may show hypsarrhythmia, consistent with West syndrome, or a pattern consistent with 'malignant migrating partial seizures in infancy' (MMPSI). Patients have little or no developmental progress: there is absent speech, hypotonia, poor motor skills, peripheral spasticity, and impaired visual fixation (summary by {1:Kurian et al., 2010} and {2:Poduri et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}.",[613722],"[293181, 3451]","[Infantile spasms syndrome, Malignant migrating focal seizures of infancy]","[12919, 7887]",,Early Infantile Epileptic Encephalopathy 12,TRUE,FALSE,Active +GARD:13319,Active,Orphanet,ORPHA:438178,Disorder,[Disease],Fatty acyl-CoA reductase 1 deficiency,"[FAR1 deficiency, PFCRD, Peroxisomal fatty acyl-CoA reductase 1 disorder]","A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging.",[616154],,,,,Peroxisomal fatty acyl-CoA reductase 1 disorder,TRUE,FALSE,Draft +GARD:13320,Active,Orphanet,ORPHA:468717,Subtype of disorder,[Etiological subtype],Rhizomelic chondrodysplasia punctata type 5,,,[616716],,,,,Rhizomelic chondrodysplasia punctata type 5,TRUE,FALSE,Draft +GARD:13321,Legacy,GARD,,,,,,,,,,,,Peroxisomal disorders,TRUE,FALSE,Retired +GARD:13322,Legacy,GARD,,,,,,,,,,,,Condrodisplasia punctata rizomélica,TRUE,FALSE,Active +GARD:13323,Legacy,GARD,,,,,,,,,,,,Neurodegeneración asociada a pantotenato-quinasa,TRUE,TRUE,Active +GARD:13324,Legacy,GARD,,,,,,,,,,,,Sinostosis radiocubital congénita,TRUE,TRUE,Active +GARD:13325,Legacy,GARD,,,,,,,,,,,,Duplicaciones parciales del cromosoma 1q,TRUE,TRUE,Active +GARD:13326,Legacy,GARD,,,,,,,,,,,,Parálisis periódica familiar,TRUE,TRUE,Active +GARD:13327,Legacy,GARD,,,,,,,,,,,,Displasias ectodérmicas,TRUE,TRUE,Active +GARD:13328,Legacy,GARD,,,,,,,,,,,,Reactive perforating collagenosis,FALSE,FALSE,Draft +GARD:13329,Legacy,GARD,,,,,,,,,,,,Síndrome de la nieve visual,TRUE,TRUE,Active +GARD:1333,Active,Orphanet,ORPHA:1443,Disorder,[Malformation syndrome],Ring chromosome 19 syndrome,"[Ring 19, Ring chromosome 19]","Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.",,,,,,Ring chromosome 19,TRUE,FALSE,Active +GARD:13330,Legacy,GARD,,,,,,,,,,,,Hiperplasia difusa idiopática de células neuroendocrinas pulmonares,TRUE,TRUE,Active +GARD:13331,Active,Orphanet,ORPHA:79147,Disorder,[Disease],Familial reactive perforating collagenosis,,Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.,[216700],,,,,Familial reactive perforating collagenosis,TRUE,FALSE,Active +GARD:13332,Legacy,GARD,,,,,,,,,,,,PHIP related disease,FALSE,FALSE,Retired +GARD:13333,Legacy,GARD,,,,,,,,,,,,Complejo extrofia-epispadias,TRUE,TRUE,Active +GARD:13334,Legacy,GARD,,,,,,,,,,,,Niemann-Pick disease,TRUE,FALSE,Active +GARD:13335,Legacy,GARD,,,,,,,,,,,,Síndrome de la persona rígida,TRUE,TRUE,Active +GARD:13336,Legacy,GARD,,,,,,,,,,,,Interstitial lung disease,FALSE,FALSE,Active +GARD:13337,Active,Orphanet,ORPHA:98300,Group of disorders,[Clinical group],Idiopathic interstitial pneumonia,,,,,,,,Idiopathic interstitial pneumonia,TRUE,FALSE,Draft +GARD:13338,Legacy,GARD,,,,,,,,,,,,Pott disease,FALSE,FALSE,Draft +GARD:13339,Active,Orphanet,ORPHA:464336,Disorder,[Disease],BENTA disease,[B-cell expansion with NF-kB and T-cell anergy disease],"A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.",[616452],,,,,BENTA disease,TRUE,FALSE,Active +GARD:1334,Active,Orphanet,ORPHA:1444,Disorder,[Malformation syndrome],Ring chromosome 20 syndrome,"[Ring 20, Ring chromosome 20]","A rare chromosomal disorder, characterized by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioral problems.",,,,,,Ring chromosome 20,TRUE,FALSE,Active +GARD:13340,Legacy,GARD,,,,,,,,,,,,Síndrome de Klippel Feil,TRUE,TRUE,Active +GARD:13341,Legacy,GARD,,,,,,,,,,,,Vaginal agenesis,FALSE,FALSE,Draft +GARD:13342,Legacy,GARD,,,,,,,,,,,,Lupus,FALSE,TRUE,Active +GARD:13343,Legacy,GARD,,,,,,,,,,,,Síndrome de Dandy-Walker,TRUE,TRUE,Draft +GARD:13344,Legacy,GARD,,,,,,,,,,,,Malformación de Chiari tipo 1,TRUE,TRUE,Active +GARD:13345,Legacy,GARD,,,,,,,,,,,,Chromosomal Abnormalities,FALSE,FALSE,Internal +GARD:13346,Legacy,GARD,,,,,,,,,,,,Anomalías Cromosómicas,FALSE,TRUE,Internal +GARD:13347,Legacy,GARD,,,,,,,,,,,,Diplejía espástica,TRUE,TRUE,Active +GARD:13348,Legacy,GARD,,,,,,,,,,,,pancreatic divisum,FALSE,FALSE,Draft +GARD:13349,Active,Orphanet,ORPHA:420584,Disorder,[Malformation syndrome],Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,[Culler-Jones syndrome],"Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.",[615849],,,,,Culler-Jones syndrome,TRUE,FALSE,Active +GARD:13350,Legacy,GARD,,,,,,,,,,,,fatty acid oxidation,FALSE,FALSE,Draft +GARD:13351,Legacy,GARD,,,,,,,,,,,,Xantomatosis cerebrotendinosa,TRUE,TRUE,Active +GARD:13352,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos tipo vascular,TRUE,TRUE,Active +GARD:13353,Legacy,GARD,,,,,,,,,,,,Mesenteritis esclerosante,TRUE,TRUE,Active +GARD:13354,Active,Orphanet,ORPHA:35737,Disorder,[Morphological anomaly],Morning glory disc anomaly,"[Ectasic coloboma, Morning glory syndrome]","A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies.",[120430],,,,,Morning glory syndrome,TRUE,FALSE,Active +GARD:13355,Legacy,GARD,,,,,,,,,,,,SCN2A related disorders,TRUE,FALSE,Active +GARD:13356,Legacy,GARD,,,,,,,,,,,,Non syndromic intellectual disability type 58,FALSE,FALSE,Retired +GARD:13357,Legacy,GARD,,,,,,,,,,,,Síndrome 'Morning glory',TRUE,TRUE,Active +GARD:13358,Legacy,GARD,,,,,,,,,,,,Cáncer de mama hereditario,TRUE,TRUE,Active +GARD:13359,Legacy,GARD,,,,,,,,,,,,Enfermedad de Ledderhose,TRUE,TRUE,Active +GARD:1336,Active,Orphanet,ORPHA:1446,Disorder,[Malformation syndrome],Ring chromosome 22 syndrome,"[Ring 22, Ring chromosome 22, r(22) syndrome]","Ring chromosome 22 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.",,,,,,Ring chromosome 22,TRUE,FALSE,Active +GARD:13360,Legacy,GARD,,,,,,,,,,,,Popliteal artery entrapment syndrome,FALSE,FALSE,Draft +GARD:13361,Legacy,GARD,,,,,,,,,,,,Autosomal recessive intellectual disability 58,TRUE,FALSE,Active +GARD:13362,Legacy,GARD,,,,,,,,,,,,Malformaciones linfáticas,TRUE,TRUE,Active +GARD:13363,Legacy,GARD,,,,,,,,,,,,pulmonary aveolar proteinosis,FALSE,FALSE,Draft +GARD:13364,Legacy,GARD,,,,,,,,,,,,Non-asthmatic eosinophilic bronchitis,FALSE,FALSE,Draft +GARD:13365,Legacy,GARD,,,,,,,,,,,,Distrofia muscular de cinturas autosómica recesiva tipo 2A,TRUE,TRUE,Active +GARD:13366,Legacy,GARD,,,,,,,,,,,,essential iris atrophy,FALSE,FALSE,Draft +GARD:13367,Legacy,GARD,,,,,,,,,,,,Deformidad de Madelung,TRUE,TRUE,Active +GARD:13368,Legacy,GARD,,,,,,,,,,,,Discondrosteosis de Léri-Weill,TRUE,TRUE,Active +GARD:13369,Legacy,GARD,,,,,,,,,,,,Calcium apatite deposition disease (CADD),FALSE,FALSE,Draft +GARD:13370,Legacy,GARD,,,,,,,,,,,,Histiocitosis de células de Langerhans,TRUE,TRUE,Active +GARD:13371,Active,Orphanet,ORPHA:324972,Disorder,[Disease],MAGIC syndrome,[Mouth and genital ulcers-inflamed cartilage syndrome],"A rare autoinflammatory syndrome characterized by the presence of features of relapsing polychondritis and Behçet's disease in the same individual. This includes cartilage inflammation of the ears, nose, throat, and rib cage, as well as recurrent oral and genital ulcers, respectively. Patients may also present ocular involvement (in particular anterior uveitis or scleritis), arthritis, fever, colitis, thrombophlebitis, central nervous system vasculitis, or, in rare cases, arterial aneurysms. Symptoms of polychondritis occur secondary to those of Behçet's disease in the vast majority of cases.",,,,,,MAGIC syndrome,TRUE,FALSE,Active +GARD:13372,Legacy,GARD,,,,,,,,,,,,Traumatic ulcerative granuloma,FALSE,FALSE,Draft +GARD:13373,Legacy,GARD,,,,,,,,,,,,GATA2 deficiency,TRUE,FALSE,Active +GARD:13374,Legacy,GARD,,,,,,,,,,,,Alopecia universal,TRUE,TRUE,Active +GARD:13375,Legacy,GARD,,,,,,,,,,,,Distrofia muscular de Duchenne,TRUE,TRUE,Active +GARD:13376,Active,Orphanet+OMIM,OMIM:614135,Subtype of disorder,[Disease subtype],"Epiphyseal dysplasia, multiple, 6",,,[614135],[166002],[Multiple epiphyseal dysplasia due to collagen 9 anomaly],[15024],,Multiple epiphyseal dysplasia 6,TRUE,FALSE,Active +GARD:13377,Legacy,GARD,,,,,,,,,,,,Síndrome de Weill-Marchesani,TRUE,TRUE,Active +GARD:13378,Active,Orphanet+OMIM,OMIM:615473,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 17,"[Epileptic encephalopathy, early infantile, 17]","Developmental and epileptic encephalopathy-17 (DEE17) is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life. EEG often shows a burst-suppression pattern consistent with a clinical diagnosis of Ohtahara syndrome. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by {2:Nakamura et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615473],[1934],[Early infantile epileptic encephalopathy],[9255],,GNAO1 encephalopathy,TRUE,FALSE,Active +GARD:13379,Active,Orphanet+OMIM,OMIM:616078,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 29","[Mental retardation, autosomal dominant 29]",,[616078],[436151],[Intellectual disability-expressive aphasia-facial dysmorphism syndrome],[17724],,SETBP1 disorder,TRUE,FALSE,Active +GARD:13380,Legacy,GARD,,,,,,,,,,,,benign fasciculation syndrome,FALSE,FALSE,Draft +GARD:13381,Legacy,GARD,,,,,,,,,,,,Leukoencephalopathy with thalamus and brainstem involvement and high lactate,TRUE,FALSE,Active +GARD:13382,Legacy,GARD,,,,,,,,,,,,Arteritis de células gigantes,TRUE,TRUE,Active +GARD:13383,Legacy,GARD,,,,,,,,,,,,Síndrome de microduplicación 7q11.23,TRUE,TRUE,Active +GARD:13384,Legacy,GARD,,,,,,,,,,,,Hepatopulmonary syndrome,TRUE,FALSE,Active +GARD:13385,Legacy,GARD,,,,,,,,,,,,NUT midline carcinoma,FALSE,FALSE,Draft +GARD:13386,Legacy,GARD,,,,,,,,,,,,Telangiectasia hemorrágica hereditaria,TRUE,TRUE,Active +GARD:13387,Legacy,GARD,,,,,,,,,,,,Aneurysm,FALSE,FALSE,Draft +GARD:13388,Active,Orphanet,ORPHA:528,Disorder,[Disease],Congenital generalized lipodystrophy,"[BSCL, Berardinelli-Seip congenital lipodystrophy, Berardinelli-Seip syndrome, CGL, Lipoatrophic diabetes]","A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis.","[269700, 612526, 613327, 606721, 608594]",,,,,Congenital generalized lipodystrophy,TRUE,FALSE,Active +GARD:13389,Active,Orphanet+OMIM,OMIM:612526,Subtype of disorder,[Disease subtype],"Lipodystrophy, congenital generalized, type 3","[lipodystrophy, berardinelli-seip congenital, type 3, Berardinelli-seip congenital lipodystrophy, type 3]","Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes ({1:Garg, 2004}).\n\nFor a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 ({608594}).",[612526],[528],[Congenital generalized lipodystrophy],[13388],,Congenital generalized lipodystrophy type 3,TRUE,FALSE,Active +GARD:1339,Active,Orphanet,ORPHA:1447,Disorder,[Malformation syndrome],Ring chromosome 4 syndrome,"[Ring 4, Ring chromosome 4, Syndrome r(4), r(4) syndrome]","Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.",,,,,,Ring chromosome 4,TRUE,FALSE,Active +GARD:13390,Active,Orphanet,ORPHA:94063,Disorder,[Malformation syndrome],12q14 microdeletion syndrome,"[Del(12)(q14), Deletion 12q14, Monosomy 12q14, Osteopoikilosis-short stature-intellectual disability syndrome]","12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.",,,,,,12q14 microdeletion syndrome,TRUE,FALSE,Active +GARD:13391,Active,Orphanet,ORPHA:261349,Disorder,[Malformation syndrome],2p15p16.1 microdeletion syndrome,"[Del(2)(p15p16.1), Monosomy 2p15p16.1]",2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.,[612513],,,,,2p15p16.1 microdeletion syndrome,TRUE,FALSE,Active +GARD:13392,Legacy,GARD,,,,,,,,,,,,16p13.11 microduplication syndrome,TRUE,FALSE,Active +GARD:13393,Legacy,GARD,,,,,,,,,,,,Síndrome de Culler-Jones,TRUE,TRUE,Active +GARD:13394,Legacy,GARD,,,,,,,,,,,,Myopic macular degeneration,FALSE,FALSE,Draft +GARD:13395,Legacy,GARD,,,,,,,,,,,,neurally mediated hypotension,FALSE,FALSE,Draft +GARD:13396,Legacy,GARD,,,,,,,,,,,,Síndrome de Alagille,TRUE,TRUE,Active +GARD:13397,Legacy,GARD,,,,,,,,,,,,Miotonía congénita,TRUE,TRUE,Active +GARD:13398,Legacy,GARD,,,,,,,,,,,,Cutaneous vasculitis,FALSE,FALSE,Draft +GARD:13399,Legacy,GARD,,,,,,,,,,,,Patellofemoral dysplasia,FALSE,FALSE,Draft +GARD:134,Active,Orphanet,ORPHA:93346,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia congenita, Strudwick type",,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).",[184250],,,,,Spondyloepimetaphyseal dysplasia Strudwick type,TRUE,FALSE,Active +GARD:1340,Legacy,GARD,,,,,,,,,,,,Chromosome 4q deletion,TRUE,FALSE,Active +GARD:13400,Legacy,GARD,,,,,,,,,,,,Enfermedad de Gaucher,TRUE,TRUE,Active +GARD:13401,Legacy,GARD,,,,,,,,,,,,Distal acquired demyelinating symmetric neuropathy,FALSE,FALSE,Draft +GARD:13402,Legacy,GARD,,,,,,,,,,,,Papillary glioneuronal tumors,TRUE,FALSE,Active +GARD:13403,Legacy,GARD,,,,,,,,,,,,Prurigo nodular,TRUE,TRUE,Active +GARD:13404,Legacy,GARD,,,,,,,,,,,,persistent trigeminal artery,FALSE,FALSE,Draft +GARD:13405,Legacy,GARD,,,,,,,,,,,,Ataxia espinocerebelosa tipo 13,TRUE,TRUE,Active +GARD:13406,Legacy,GARD,,,,,,,,,,,,Limbic encephalitis with LGI1 antibodies,TRUE,FALSE,Active +GARD:13407,Legacy,GARD,,,,,,,,,,,,Schwannoma,TRUE,TRUE,Active +GARD:13408,Legacy,GARD,,,,,,,,,,,,Intestinal neuronal dysplasia type B,FALSE,FALSE,Draft +GARD:13409,Active,Orphanet,ORPHA:412069,Disorder,[Malformation syndrome],AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,[Xia-Gibbs syndrome],"A rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.",[615829],,,,,Xia-Gibbs syndrome,TRUE,FALSE,Active +GARD:13410,Legacy,GARD,,,,,,,,,,,,Esclerosis tuberosa,TRUE,TRUE,Active +GARD:13411,Legacy,GARD,,,,,,,,,,,,Enfermedad de Parkinson,FALSE,TRUE,Active +GARD:13412,Legacy,GARD,,,,,,,,,,,,Hair heterochromia,FALSE,FALSE,Draft +GARD:13413,Legacy,GARD,,,,,,,,,,,,Síndrome de Pallister-Hall,TRUE,TRUE,Active +GARD:13414,Legacy,GARD,,,,,,,,,,,,Síndrome de Singleton-Merten,TRUE,TRUE,Active +GARD:13415,Legacy,GARD,,,,,,,,,,,,Uniparental disomy 6,FALSE,FALSE,Retired +GARD:13416,Legacy,GARD,,,,,,,,,,,,"46,XX,13ps+",FALSE,FALSE,Draft +GARD:13417,Legacy,GARD,,,,,,,,,,,,Giggle incontinence,FALSE,FALSE,Draft +GARD:13418,Active,Orphanet,ORPHA:453504,Subtype of disorder,[Etiological subtype],Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,,,[616580],,,,,Au-Kline syndrome,TRUE,FALSE,Draft +GARD:13419,Legacy,GARD,,,,,,,,,,,,Atrofia multisistémica,TRUE,TRUE,Active +GARD:13420,Legacy,GARD,,,,,,,,,,,,Aciduria D-2-hidroxiglutárica,TRUE,TRUE,Draft +GARD:13421,Legacy,GARD,,,,,,,,,,,,Síndrome de Wiskott-Aldrich,TRUE,TRUE,Active +GARD:13422,Legacy,GARD,,,,,,,,,,,,Rahman syndrome,TRUE,FALSE,Active +GARD:13423,Active,Orphanet,ORPHA:480864,Disorder,[Disease],Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,[TANGO2-related metabolic encephalopathy-arrhythmia syndrome],"Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.",[616878],,,,,TANGO2-Related Metabolic Encephalopathy and Arrhythmias,TRUE,FALSE,Active +GARD:13424,Legacy,GARD,,,,,,,,,,,,Trisomía 13,TRUE,TRUE,Active +GARD:13425,Active,Orphanet,ORPHA:447997,Disorder,[Disease],Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,"[ASCT1 deficiency, Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome]","A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.",[616657],,,,,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,TRUE,FALSE,Active +GARD:13426,Legacy,GARD,,,,,,,,,,,,Paraparesia espástica tropical,TRUE,TRUE,Active +GARD:13427,Legacy,GARD,,,,,,,,,,,,Nevo melanocítico congénito gigante,TRUE,TRUE,Active +GARD:13428,Legacy,GARD,,,,,,,,,,,,ilioinguinal nerve entrapment,FALSE,FALSE,Draft +GARD:13429,Legacy,GARD,,,,,,,,,,,,Lichen simplex chronicus,FALSE,FALSE,Draft +GARD:13430,Legacy,GARD,,,,,,,,,,,,Quistes aracnoideos,TRUE,TRUE,Active +GARD:13431,Active,Orphanet,ORPHA:254516,Disorder,[Malformation syndrome],Temple syndrome,,"Temple syndrome is a rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion).",[616222],,,,,Temple syndrome,TRUE,FALSE,Active +GARD:13432,Legacy,GARD,,,,,,,,,,,,Hiperinsulinismo congénito,TRUE,TRUE,Active +GARD:13433,Legacy,GARD,,,,,,,,,,,,Pleuroparenchymal fibroelastosis,TRUE,FALSE,Active +GARD:13434,Legacy,GARD,,,,,,,,,,,,"Arthrogryposis, distal, with impaired proprioception and touch",TRUE,FALSE,Draft +GARD:13435,Legacy,GARD,,,,,,,,,,,,Epilepsia mioclónica juvenil,TRUE,TRUE,Active +GARD:13436,Legacy,GARD,,,,,,,,,,,,inborn error of metabolism,FALSE,FALSE,Draft +GARD:13437,Legacy,GARD,,,,,,,,,,,,Síndrome de la piel rígida,TRUE,TRUE,Active +GARD:13438,Legacy,GARD,,,,,,,,,,,,Síndrome de Aicardi-Goutières,TRUE,TRUE,Active +GARD:13439,Legacy,GARD,,,,,,,,,,,,Síndrome de Aicardi-Goutieres,TRUE,TRUE,Retired +GARD:13440,Legacy,GARD,,,,,,,,,,,,Psoriatic arthritis,FALSE,FALSE,Draft +GARD:13441,Legacy,GARD,,,,,,,,,,,,Congenital Zika syndrome,TRUE,FALSE,Active +GARD:13442,Legacy,GARD,,,,,,,,,,,,Bain type of X-linked syndromic intellectual disability,TRUE,FALSE,Active +GARD:13443,Legacy,GARD,,,,,,,,,,,,Tumores del Estroma Gastrointestinal,TRUE,TRUE,Active +GARD:13444,Legacy,GARD,,,,,,,,,,,,Selective serotonin reuptake inhibitors (SSRIs) adverse effects,FALSE,FALSE,Draft +GARD:13445,Legacy,GARD,,,,,,,,,,,,Neuroendocrine tumor,TRUE,FALSE,Active +GARD:13446,Active,Orphanet,ORPHA:86855,Disorder,[Disease],Plasmacytoma,[Solitary plasmacytoma],"Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.",,,,,,Plasmacytoma,TRUE,FALSE,Active +GARD:13447,Active,Orphanet,ORPHA:313936,Disorder,[Disease],PENS syndrome,[Papular epidermal nevi with skyline basal cell layers syndrome],"PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.",,,,,,Papular epidermal nevi with skyline basal cell layers syndrome,TRUE,FALSE,Active +GARD:13448,Legacy,GARD,,,,,,,,,,,,Síndrome de nevus epidérmico papuloso con capas de células basales 'en horizonte',TRUE,TRUE,Active +GARD:13449,Legacy,GARD,,,,,,,,,,,,Submandibular sialolithiasis,FALSE,FALSE,Draft +GARD:1345,Active,Orphanet,ORPHA:1449,Disorder,[Malformation syndrome],Ring chromosome 7 syndrome,"[Ring 7, Ring chromosome 7]","Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).",,,,,,Ring chromosome 7,TRUE,FALSE,Active +GARD:13450,Legacy,GARD,,,,,,,,,,,,Síndrome odontotricomélico,TRUE,TRUE,Active +GARD:13451,Active,Orphanet,ORPHA:464329,Disorder,[Disease],Kaposiform lymphangiomatosis,,"A rare vascular anomaly or angioma characterized by multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding, and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition.",,,,,,Kaposiform lymphangiomatosis,TRUE,FALSE,Active +GARD:13452,Legacy,GARD,,,,,,,,,,,,Granulomatosis eosinofílica con poliangitis,TRUE,TRUE,Active +GARD:13453,Legacy,GARD,,,,,,,,,,,,Copper toxicity,FALSE,FALSE,Draft +GARD:13454,Legacy,GARD,,,,,,,,,,,,Síndrome PURA,TRUE,TRUE,Active +GARD:13455,Legacy,GARD,,,,,,,,,,,,Jackhammer esophagus,TRUE,FALSE,Active +GARD:13456,Legacy,GARD,,,,,,,,,,,,Síndrome CREST,TRUE,TRUE,Active +GARD:13457,Legacy,GARD,,,,,,,,,,,,Anti-PIT-1 antibody syndrome,TRUE,FALSE,Active +GARD:13458,Legacy,GARD,,,,,,,,,,,,Pseudomixoma peritoneal,TRUE,TRUE,Active +GARD:13459,Legacy,GARD,,,,,,,,,,,,Red ear syndrome,FALSE,FALSE,Draft +GARD:1346,Legacy,GARD,,,,,,,,,,,,Chromosome 7p deletion,TRUE,FALSE,Active +GARD:13460,Legacy,GARD,,,,,,,,,,,,Mycobacterium asiaticum,FALSE,FALSE,Draft +GARD:13461,Active,Orphanet,ORPHA:217330,Subtype of disorder,[Clinical subtype],REN-related autosomal dominant tubulointerstitial kidney disease,"[ADTKD-REN, FJHN type 2, Familial juvenile hyperuricemic nephropathy type 2, REN-associated FJHN, REN-associated familial juvenile hyperuricemic nephropathy, REN-associated kidney disease]","Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).",[613092],,,,,Autosomal dominant tubulointerstitial kidney disease due to REN mutations,TRUE,FALSE,Active +GARD:13462,Legacy,GARD,,,,,,,,,,,,Atrofia hemifacial progresiva,TRUE,TRUE,Active +GARD:13463,Legacy,GARD,,,,,,,,,,,,Aspirin-like defect,FALSE,FALSE,Draft +GARD:13464,Legacy,GARD,,,,,,,,,,,,Leucemia de células pilosas,TRUE,TRUE,Active +GARD:13465,Legacy,GARD,,,,,,,,,,,,Anti-GAD antibody-associated cerebellar ataxia,FALSE,FALSE,Draft +GARD:13466,Legacy,GARD,,,,,,,,,,,,17q12 triplication,FALSE,FALSE,Draft +GARD:13467,Legacy,GARD,,,,,,,,,,,,Adrenoleucodistrofia ligada al cromosoma X,TRUE,TRUE,Active +GARD:13468,Legacy,GARD,,,,,,,,,,,,Ethambutol toxic optic neuropathy,FALSE,FALSE,Draft +GARD:13469,Legacy,GARD,,,,,,,,,,,,Fragile X–associated tremor/ataxia syndrome,FALSE,FALSE,Draft +GARD:1347,Active,Orphanet,ORPHA:1450,Disorder,[Malformation syndrome],Ring chromosome 8 syndrome,"[Ring 8, Ring chromosome 8, r(8) syndrome]","A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.",,,,,,Ring chromosome 8,TRUE,FALSE,Active +GARD:13470,Legacy,GARD,,,,,,,,,,,,filamentary keratopathy,FALSE,FALSE,Draft +GARD:13471,Legacy,GARD,,,,,,,,,,,,Síndrome de Klinefelter,FALSE,TRUE,Active +GARD:13472,Active,Orphanet,ORPHA:247790,Disorder,[Disease],FTH1-related iron overload,[FTH1-associated iron overload],"A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities.",[615517],,,,,Hemochromatosis type 5,TRUE,FALSE,Active +GARD:13473,Legacy,GARD,,,,,,,,,,,,Osteogénesis imperfecta,TRUE,TRUE,Active +GARD:13474,Active,Orphanet,ORPHA:468620,Disorder,[Disease],Intellectual disability-epilepsy-extrapyramidal syndrome,,"A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.",[617171],,,,,DEAF1-associated disorders,TRUE,FALSE,Active +GARD:13475,Legacy,GARD,,,,,,,,,,,,Brachioradial pruritus,FALSE,FALSE,Draft +GARD:13476,Legacy,GARD,,,,,,,,,,,,Mastocitosis,TRUE,TRUE,Active +GARD:13477,Legacy,GARD,,,,,,,,,,,,Mold toxicity,FALSE,FALSE,Draft +GARD:13478,Legacy,GARD,,,,,,,,,,,,Endosalpingiosis,FALSE,FALSE,Draft +GARD:13479,Legacy,GARD,,,,,,,,,,,,Autoimmune enteric leiomyositis,FALSE,FALSE,Draft +GARD:1348,Active,Orphanet,ORPHA:96173,Disorder,[Malformation syndrome],Ring chromosome 9 syndrome,"[Ring 9, Ring chromosome 9]","Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.",,,,,,Ring chromosome 9,TRUE,FALSE,Active +GARD:13480,Legacy,GARD,,,,,,,,,,,,"Cleft palate, cardiac defects, and intellectual disability",TRUE,FALSE,Active +GARD:13481,Legacy,GARD,,,,,,,,,,,,Meckel's diverticulem cancer,FALSE,FALSE,Draft +GARD:13482,Legacy,GARD,,,,,,,,,,,,Síndrome de Larsen,TRUE,TRUE,Active +GARD:13483,Legacy,GARD,,,,,,,,,,,,Leucemia de linfocitos grandes y granulares,TRUE,TRUE,Active +GARD:13484,Legacy,GARD,,,,,,,,,,,,Dyscalculia,FALSE,FALSE,Draft +GARD:13485,Legacy,GARD,,,,,,,,,,,,MEPA,FALSE,FALSE,Retired +GARD:13486,Legacy,GARD,,,,,,,,,,,,Lipomatosis familiar múltiple,TRUE,TRUE,Active +GARD:13487,Legacy,GARD,,,,,,,,,,,,Corneal neuropathic disease,TRUE,FALSE,Active +GARD:13488,Active,Orphanet,ORPHA:508093,Disorder,[Malformation syndrome],MEPAN syndrome,"[Autosomal recessive childhood-onset dystonia, DYT29 type, Childhood-onset generalized dystonia-optic atrophy syndrome, DYT29, Dystonia 29, Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome]","A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.",[617282],,,,,MEPAN syndrome,TRUE,FALSE,Active +GARD:13489,Active,Orphanet,ORPHA:500150,Disorder,[Malformation syndrome],Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome,"[ZTTK syndrome, Zhu-Tokita-Takenouchi-Kim syndrome]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations (including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres), musculoskeletal abnormalities (including hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity), ocular involvement (strabismus, hypermetropia and cortical visual impairment) and hypotonia. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations.",[617140],,,,,ZTTK syndrome,TRUE,FALSE,Active +GARD:13490,Legacy,GARD,,,,,,,,,,,,Chromosome 7 inversion,FALSE,FALSE,Draft +GARD:13491,Legacy,GARD,,,,,,,,,,,,Síndrome OPHN1,TRUE,TRUE,Active +GARD:13492,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos espondilodisplásico,TRUE,TRUE,Active +GARD:13493,Legacy,GARD,,,,,,,,,,,,Síndrome de hipoventilación congénita central,TRUE,TRUE,Active +GARD:13494,Legacy,GARD,,,,,,,,,,,,Enfermedad de Chagas,FALSE,TRUE,Active +GARD:13495,Legacy,GARD,,,,,,,,,,,,Shashi-Pena syndrome,TRUE,FALSE,Active +GARD:13496,Legacy,GARD,,,,,,,,,,,,candida albicans,FALSE,FALSE,Draft +GARD:13497,Legacy,GARD,,,,,,,,,,,,Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms,TRUE,FALSE,Active +GARD:13498,Legacy,GARD,,,,,,,,,,,,Giant omphalocele,FALSE,FALSE,Draft +GARD:13499,Legacy,GARD,,,,,,,,,,,,Síndrome de Shashi-Pena,TRUE,TRUE,Active +GARD:13500,Legacy,GARD,,,,,,,,,,,,Mielitis transversa,TRUE,TRUE,Active +GARD:13501,Legacy,GARD,,,,,,,,,,,,Prion diseases,FALSE,FALSE,Draft +GARD:13502,Legacy,GARD,,,,,,,,,,,,Pseudoobstrucción intestinal crónica,TRUE,TRUE,Active +GARD:13503,Legacy,GARD,,,,,,,,,,,,Abdominal phrenic dyssynergia,FALSE,FALSE,Draft +GARD:13504,Legacy,GARD,,,,,,,,,,,,Pelvis floor dysfunction,FALSE,FALSE,Draft +GARD:13505,Legacy,GARD,,,,,,,,,,,,Síndrome del dolor lumbar-hematuria,TRUE,TRUE,Active +GARD:13506,Legacy,GARD,,,,,,,,,,,,Síndrome poliglandular autoinmune tipo 1,TRUE,TRUE,Active +GARD:13507,Legacy,GARD,,,,,,,,,,,,Síndrome poliglandular autoinmune tipo 2,TRUE,TRUE,Active +GARD:13508,Legacy,GARD,,,,,,,,,,,,Síndrome poliglandular autoinmune tipo 3,TRUE,TRUE,Active +GARD:13509,Legacy,GARD,,,,,,,,,,,,Ulcerative colitis,FALSE,FALSE,Draft +GARD:1351,Legacy,GARD,,,,,,,,,,,,Chronic berylliosis,TRUE,FALSE,Retired +GARD:13510,Legacy,GARD,,,,,,,,,,,,Enfermedad de Niemann-Pick,TRUE,TRUE,Active +GARD:13511,Legacy,GARD,,,,,,,,,,,,"Sucrase-isomaltase deficiency, acquired",FALSE,FALSE,Draft +GARD:13512,Legacy,GARD,,,,,,,,,,,,brachialradial pruritis,FALSE,FALSE,Draft +GARD:13513,Legacy,GARD,,,,,,,,,,,,Protoporfiria eritropoyética,TRUE,TRUE,Active +GARD:13514,Legacy,GARD,,,,,,,,,,,,PHIP-Related disorder,TRUE,FALSE,Active +GARD:13515,Legacy,GARD,,,,,,,,,,,,Síndrome de la deleción 18p,TRUE,TRUE,Active +GARD:13516,Legacy,GARD,,,,,,,,,,,,Gastroparesia,TRUE,TRUE,Active +GARD:13517,Legacy,GARD,,,,,,,,,,,,Shoenfeld syndrome,FALSE,FALSE,Draft +GARD:13518,Legacy,GARD,,,,,,,,,,,,radiation exposure,FALSE,FALSE,Draft +GARD:13519,Active,Orphanet,ORPHA:209341,Subtype of disorder,[Etiological subtype],DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,"[DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy, SMALED1]",,[158600],,,,,"Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1",TRUE,FALSE,Active +GARD:1352,Legacy,GARD,,,,,,,,,,,,Chronic demyelinizing neuropathy with IgM monoclonal,TRUE,FALSE,Active +GARD:13520,Legacy,GARD,,,,,,,,,,,,Enfermedad de Charcot-Marie-Tooth tipo 1,TRUE,TRUE,Active +GARD:13521,Legacy,GARD,,,,,,,,,,,,malassezia folliculitis,FALSE,FALSE,Draft +GARD:13522,Legacy,GARD,,,,,,,,,,,,Bochdalek hernia,FALSE,FALSE,Draft +GARD:13523,Legacy,GARD,,,,,,,,,,,,Enfermedad de Charcot-Marie-Tooth tipo 1A,TRUE,TRUE,Active +GARD:13524,Active,Orphanet+OMIM,OMIM:617854,Subtype of disorder,"[Etiological subtype, Disease subtype]","Intellectual developmental disorder, autosomal dominant 56","[Mental retardation, autosomal dominant 56]",,[617854],"[442835, 178469]","[Non-specific early-onset epileptic encephalopathy, Autosomal dominant non-syndromic intellectual disability]","[15028, 12107]",,Autosomal dominant intellectual disability 56,TRUE,FALSE,Draft +GARD:13525,Legacy,GARD,,,,,,,,,,,,Vasculitis asociada a anticuerpos anticitoplasma de neutrófilo,TRUE,TRUE,Active +GARD:13526,Legacy,GARD,,,,,,,,,,,,Granulomatosis eosinofílica con poliangeítis,TRUE,TRUE,Retired +GARD:13527,Active,Orphanet,ORPHA:464306,Disorder,[Malformation syndrome],DYRK1A-related intellectual disability syndrome,[DYRK1A syndrome],"A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects.",[614104],,,,,DYRK1A-Related Intellectual Disability Syndrome,TRUE,FALSE,Active +GARD:13528,Legacy,GARD,,,,,,,,,,,,IRF2BPL gene variant,FALSE,FALSE,Draft +GARD:13529,Legacy,GARD,,,,,,,,,,,,Insomnia,FALSE,FALSE,Draft +GARD:13530,Legacy,GARD,,,,,,,,,,,,Encefalomiopatía neurogastrointestinal mitocondrial,TRUE,TRUE,Active +GARD:13531,Legacy,GARD,,,,,,,,,,,,Autosomal recessive spinocerebellar ataxia 21,FALSE,FALSE,Draft +GARD:13532,Legacy,GARD,,,,,,,,,,,,Esclerodermia sistémica,TRUE,TRUE,Active +GARD:13533,Legacy,GARD,,,,,,,,,,,,Mosaic supernumerary chromosome,FALSE,FALSE,Draft +GARD:13534,Legacy,GARD,,,,,,,,,,,,"X-linked intellectual disability syndrome, Turner type",FALSE,FALSE,Retired +GARD:13535,Legacy,GARD,,,,,,,,,,,,REEP1 related syndrome,FALSE,FALSE,Draft +GARD:13536,Legacy,GARD,,,,,,,,,,,,pneumosinus dilatans,FALSE,FALSE,Draft +GARD:13537,Legacy,GARD,,,,,,,,,,,,Síndrome de Cornelia de Lange,TRUE,TRUE,Active +GARD:13538,Legacy,GARD,,,,,,,,,,,,Encapsulated peritoneal sclerosis,FALSE,FALSE,Draft +GARD:13539,Active,Orphanet+OMIM,OMIM:616579,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features","[Intellectual developmental disorder, autosomal dominant 40, formerly, mental retardation, autosomal dominant 40, formerly]","Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features (NEDHILD) is a rare neurodevelopmental disorder associated with impaired intellectual development, speech and language impairment, microcephaly, seizures, hypotonia, ophthalmologic issues, constipation/gastroesophageal reflux, and behavioral problems, including autism and sleep disturbances (summary by {2:Garrity et al., 2021}).",[616579],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,Autosomal dominant intellectual disability 40,TRUE,FALSE,Active +GARD:13540,Legacy,GARD,,,,,,,,,,,,Copper deficiency myeloneuropathy,FALSE,FALSE,Draft +GARD:13541,Legacy,GARD,,,,,,,,,,,,Gait ataxia with late onset polyneuropathy syndrome,TRUE,FALSE,Active +GARD:13542,Legacy,GARD,,,,,,,,,,,,PHARC,FALSE,FALSE,Draft +GARD:13543,Legacy,GARD,,,,,,,,,,,,Enfermedad de Crohn,FALSE,TRUE,Active +GARD:13544,Legacy,GARD,,,,,,,,,,,,Duplication of the vena cava,FALSE,FALSE,Draft +GARD:13545,Legacy,GARD,,,,,,,,,,,,Síndrome de Phelan-McDermid,TRUE,TRUE,Active +GARD:13546,Legacy,GARD,,,,,,,,,,,,Adenoid basal carcinoma of the cervix,FALSE,FALSE,Draft +GARD:13547,Legacy,GARD,,,,,,,,,,,,Calcinosis cutis,FALSE,FALSE,Draft +GARD:13548,Legacy,GARD,,,,,,,,,,,,Metabolic disorders,FALSE,FALSE,Draft +GARD:13549,Legacy,GARD,,,,,,,,,,,,Síndrome de microduplicación 15q13.3,TRUE,TRUE,Active +GARD:1355,Legacy,GARD,,,,,,,,,,,,Chronic polyradiculoneuritis,TRUE,FALSE,Active +GARD:13550,Legacy,GARD,,,,,,,,,,,,Myopericytoma,FALSE,FALSE,Draft +GARD:13551,Legacy,GARD,,,,,,,,,,,,Esclerosis lateral amiotrófica juvenil,TRUE,TRUE,Active +GARD:13552,Legacy,GARD,,,,,,,,,,,,Síndrome de la haploinsuficiencia MED13L,TRUE,TRUE,Active +GARD:13553,Legacy,GARD,,,,,,,,,,,,Síndrome de duplicación de MECP2,TRUE,TRUE,Active +GARD:13554,Legacy,GARD,,,,,,,,,,,,Chronic mountain sickness,FALSE,FALSE,Draft +GARD:13555,Legacy,GARD,,,,,,,,,,,,Cytomegalovirus,FALSE,FALSE,Draft +GARD:13556,Legacy,GARD,,,,,,,,,,,,Lipomas,FALSE,FALSE,Draft +GARD:13557,Legacy,GARD,,,,,,,,,,,,Enfermedad de almacenamiento de glucógeno tipo 2,TRUE,TRUE,Active +GARD:13558,Legacy,GARD,,,,,,,,,,,,ectopia cordis,FALSE,FALSE,Draft +GARD:13559,Legacy,GARD,,,,,,,,,,,,Ictiosis epidermolítica,TRUE,TRUE,Active +GARD:1356,Active,Orphanet,ORPHA:1451,Disorder,[Disease],CINCA syndrome,"[Chronic infantile neurological cutaneous and articular syndrome, IOMID syndrome, Infantile-onset multisystem inflammatory disease, NOMID syndrome, Neonatal-onset multisystem inflammatory disease, Prieur-Griscelli syndrome]","A rare, genetic, cryopyrin-associated periodic syndrome (CAPS) characterized by neonatal onset of systemic inflammation, urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis, brain atrophy and sensorineural hearing loss).",[607115],,,,,Neonatal Onset Multisystem Inflammatory disease,TRUE,FALSE,Active +GARD:13560,Legacy,GARD,,,,,,,,,,,,Fenilcetonuria,TRUE,TRUE,Active +GARD:13561,Legacy,GARD,,,,,,,,,,,,central retinal vein occlusion,FALSE,FALSE,Draft +GARD:13562,Legacy,GARD,,,,,,,,,,,,CADASIL,TRUE,TRUE,Active +GARD:13563,Legacy,GARD,,,,,,,,,,,,Síndrome del corazón izquierdo hipoplásico,TRUE,TRUE,Active +GARD:13564,Legacy,GARD,,,,,,,,,,,,TECPR2 gene-related disorder,FALSE,FALSE,Retired +GARD:13565,Active,Orphanet,ORPHA:445018,Disorder,[Disease],Combined immunodeficiency due to LRBA deficiency,[CID due to LRBA deficiency],"A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.",[614700],,,,,LRBA deficiency,TRUE,FALSE,Active +GARD:13566,Legacy,GARD,,,,,,,,,,,,Síndrome de Dubowitz,TRUE,TRUE,Active +GARD:13567,Legacy,GARD,,,,,,,,,,,,Chromosome 9q33q34 microdeletion,FALSE,FALSE,Draft +GARD:13568,Active,Orphanet,ORPHA:320385,Disorder,[Disease],Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,"[Autosomal recessive spastic paraplegia type 49, HSAN due to TECPR2 mutation, SPG49]","Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.",[615031],,,,,Autosomal recessive spastic paraplegia type 49,TRUE,FALSE,Active +GARD:13569,Legacy,GARD,,,,,,,,,,,,Irlen syndrome,FALSE,FALSE,Draft +GARD:1357,Legacy,GARD,,,,,,,,,,,,"Mental retardation-hypotonic facies syndrome X-linked, 1",TRUE,FALSE,Retired +GARD:13570,Legacy,GARD,,,,,,,,,,,,Deficiencia de LRBA,TRUE,TRUE,Active +GARD:13571,Active,Orphanet,ORPHA:293955,Disorder,[Disease],Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,,"Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.",[614458],,,,,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,TRUE,FALSE,Active +GARD:13572,Legacy,GARD,,,,,,,,,,,,Síndrome de Pitt-Hopkins,TRUE,TRUE,Active +GARD:13573,Legacy,GARD,,,,,,,,,,,,Síndrome de Xia-Gibbs,TRUE,TRUE,Active +GARD:13574,Legacy,GARD,,,,,,,,,,,,Infecciones por el Complejo Mycobacterium avium,TRUE,TRUE,Active +GARD:13575,Legacy,GARD,,,,,,,,,,,,Oncocercosis,TRUE,TRUE,Active +GARD:13576,Legacy,GARD,,,,,,,,,,,,Miopatía de Miyoshi,TRUE,TRUE,Active +GARD:13577,Legacy,GARD,,,,,,,,,,,,Disferlinopatias,TRUE,TRUE,Active +GARD:13578,Legacy,GARD,,,,,,,,,,,,Myelodysplastic Syndrome With Excess Blasts,TRUE,FALSE,Active +GARD:13579,Legacy,GARD,,,,,,,,,,,,Osteoid Osteoma,FALSE,FALSE,Draft +GARD:1358,Active,Orphanet,ORPHA:3068,Disorder,[Disease],Intellectual disability-myopathy-short stature-endocrine defect syndrome,[Chudley-Rozdilsky syndrome],"Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.",[253320],,,,,Chudley Rozdilsky syndrome,TRUE,FALSE,Active +GARD:13580,Legacy,GARD,,,,,,,,,,,,Síndrome mielodisplásico con exceso de blastos,TRUE,TRUE,Active +GARD:13581,Legacy,GARD,,,,,,,,,,,,Síndromes mielodisplásicos,TRUE,TRUE,Active +GARD:13582,Legacy,GARD,,,,,,,,,,,,Sensory ganglionopathy,FALSE,FALSE,Draft +GARD:13583,Legacy,GARD,,,,,,,,,,,,Cicatricial alopecia,FALSE,FALSE,Draft +GARD:13584,Legacy,GARD,,,,,,,,,,,,Autosomal dominant intellectual disability 49,TRUE,FALSE,Active +GARD:13585,Legacy,GARD,,,,,,,,,,,,Discapacidad intelectual autosómica dominante 49,TRUE,TRUE,Draft +GARD:13586,Legacy,GARD,,,,,,,,,,,,Espectro de la displasia septo-óptica,TRUE,TRUE,Active +GARD:13587,Active,Orphanet,ORPHA:157949,Disorder,[Disease],Combined immunodeficiency with granulomatosis,"[CID due to RAG 1/2 deficiency, Combined immunodeficiency due to RAG 1/2 deficiency]","A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.",[233650],,,,,Combined immunodeficiency with skin granulomas,TRUE,FALSE,Active +GARD:13588,Active,Orphanet,ORPHA:99748,Disorder,[Disease],Pontiac fever,,"Pontiac fever (PF) is a mild form of legionellosis (see this term) manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.",,,,,,Pontiac fever,TRUE,FALSE,Draft +GARD:13589,Legacy,GARD,,,,,,,,,,,,Enfermedad del legionario,TRUE,TRUE,Active +GARD:1359,Active,Orphanet,ORPHA:1160,Disorder,[Disease],Chylous ascites,,"Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.",[208300],,,,,Chylous ascites,TRUE,FALSE,Active +GARD:13591,Active,Orphanet,ORPHA:443236,Disorder,[Disease],Postural orthostatic tachycardia syndrome due to NET deficiency,"[Familial orthostatic tachycardia due to norepinephrine transporter deficiency, Orthostatic intolerance due to NET deficiency, POTS due to NET deficiency]","A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.",[604715],,,,,Orthostatic intolerance due to NET deficiency,TRUE,FALSE,Active +GARD:13592,Active,Orphanet,ORPHA:42738,Group of disorders,[Clinical group],Severe congenital neutropenia,,Severe congenital neutropenia is an immunodeficiency characterized by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit.,,,,,,Severe congenital neutropenia,TRUE,FALSE,Active +GARD:13593,Active,Orphanet,ORPHA:251975,Disorder,[Disease],Rosette-forming glioneuronal tumor,[RGNT],"Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum.",,,,,,Rosette-Forming Glioneuronal Tumor,TRUE,FALSE,Active +GARD:13594,Active,Orphanet,ORPHA:352649,Disorder,[Disease],Brain dopamine-serotonin vesicular transport disease,,"A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.",[618049],,,,,Brain dopamine-serotonin vesicular transport disease,TRUE,FALSE,Active +GARD:13595,Legacy,GARD,,,,,,,,,,,,miliary osteoma cutis,FALSE,FALSE,Draft +GARD:13596,Legacy,GARD,,,,,,,,,,,,Distrofia miotónica,TRUE,TRUE,Active +GARD:13597,Legacy,GARD,,,,,,,,,,,,Granuloma anular,FALSE,TRUE,Active +GARD:13598,Legacy,GARD,,,,,,,,,,,,Síndrome de Silver-Russell,TRUE,TRUE,Active +GARD:13599,Legacy,GARD,,,,,,,,,,,,MOG Antibody-Associated Disease,FALSE,FALSE,Draft +GARD:136,Legacy,GARD,,,,,,,,,,,,Dextrocardia with unusual facies and microphthalmia,TRUE,FALSE,Active +GARD:1360,Active,Orphanet+OMIM,OMIM:215518,Subtype of disorder,[Disease subtype],Ciliary discoordination due to random ciliary orientation,[Rutland ciliary disorientation syndrome],"In a 12-year-old boy whose parents had immigrated to Australia from Lebanon, {4:Rutland and de Iongh (1990)} described a history of pulmonary problems dating from the first weeks of life. With quantitative methods for measuring ciliary orientation ({1:de Iongh and Rutland, 1989}), they showed that the orientation of the cilia was random as compared to parallel in patients with recurrent respiratory tract infections and in normal subjects. {4:Rutland and de Iongh (1990)} considered the orientation to be a primary defect. They suggested that this patient might be fertile since the orientation of sperm tails in relation to each other would not be expected to have an effect on fertility. They pointed out that normal ciliary ultrastructure has been reported in patients with Kartagener syndrome ({3:Herzon and Murphy, 1980}; {2:Greenstone et al., 1983}) and they suggested that random ciliary orientation could be the defect in some of these patients. Parental consanguinity was not commented on; there were no indications of abnormalities in the parents or sibs.",[215518],[244],[Primary ciliary dyskinesia],[4484],,"Ciliary discoordination, due to random ciliary orientation",TRUE,FALSE,Active +GARD:13600,Legacy,GARD,,,,,,,,,,,,endometriosis,FALSE,FALSE,Draft +GARD:13601,Legacy,GARD,,,,,,,,,,,,Síndrome de Evans,TRUE,TRUE,Active +GARD:13602,Legacy,GARD,,,,,,,,,,,,Food Protein-Induced Enterocolitis Syndrome,FALSE,FALSE,Draft +GARD:13603,Legacy,GARD,,,,,,,,,,,,Spinal cord infarction,FALSE,FALSE,Draft +GARD:13604,Legacy,GARD,,,,,,,,,,,,Sleep paralysis,FALSE,FALSE,Draft +GARD:13605,Legacy,GARD,,,,,,,,,,,,Oligodactyly,FALSE,FALSE,Draft +GARD:13606,Active,Orphanet,ORPHA:48377,Disorder,[Disease],Subcorneal pustular dermatosis,"[Pustulosis subcornealis, Sneddon-Wilkinson disease, Subcorneal pustular dermatitis]","Subcorneal pustular dermatosis is a rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.",,,,,,Subcorneal pustular dermatosis,TRUE,FALSE,Active +GARD:13607,Legacy,GARD,,,,,,,,,,,,Lipofuscinosis neuronal ceroidea,TRUE,TRUE,Active +GARD:13608,Legacy,GARD,,,,,,,,,,,,Neurodevelopmental disorder with severe motor impairment and absent language,TRUE,FALSE,Active +GARD:13609,Legacy,GARD,,,,,,,,,,,,Amplified musculoskeletal pain syndrome,FALSE,FALSE,Draft +GARD:1361,Active,Orphanet+OMIM,OMIM:215520,Subtype of disorder,[Disease subtype],Ciliary dyskinesia with transposition of ciliary microtubules,,,[215520],[244],[Primary ciliary dyskinesia],[4484],,"Ciliary dyskinesia, due to transposition of ciliary microtubules",TRUE,FALSE,Active +GARD:13610,Legacy,GARD,,,,,,,,,,,,Enfermedad de von Hippel-Lindau,TRUE,TRUE,Active +GARD:13611,Legacy,GARD,,,,,,,,,,,,Miopatía miofibrilar,TRUE,TRUE,Active +GARD:13612,Legacy,GARD,,,,,,,,,,,,Pseudomonas aeruginosa Infections,FALSE,FALSE,Draft +GARD:13613,Active,Orphanet,ORPHA:90066,Disorder,[Particular clinical situation in a disease or syndrome],Pneumonia caused by Pseudomonas aeruginosa infection,,"A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.",,,,,,Pneumonia caused by Pseudomonas aeruginosa infection,TRUE,FALSE,Active +GARD:13614,Legacy,GARD,,,,,,,,,,,,Zinner syndrome,FALSE,FALSE,Draft +GARD:13615,Legacy,GARD,,,,,,,,,,,,Inmunodeficiencia común variable,FALSE,TRUE,Active +GARD:13616,Legacy,GARD,,,,,,,,,,,,Demencia frontotemporal,TRUE,TRUE,Active +GARD:13617,Legacy,GARD,,,,,,,,,,,,Diaphragmatic flutter,TRUE,FALSE,Active +GARD:13618,Legacy,GARD,,,,,,,,,,,,Paquidermoperiostosis,TRUE,TRUE,Active +GARD:13619,Legacy,GARD,,,,,,,,,,,,plantar fibroma,FALSE,FALSE,Draft +GARD:1362,Legacy,GARD,,,,,,,,,,,,Ciliary dyskinesia-bronchiectasis,TRUE,FALSE,Active +GARD:13620,Legacy,GARD,,,,,,,,,,,,Digital papillary adenocarcinoma,FALSE,FALSE,Draft +GARD:13621,Active,Orphanet,ORPHA:448010,Disorder,[Disease],CAD-CDG,"[CDG syndrome type Iz, CDG-Iz, CDG1Z, Carbohydrate deficient glycoprotein syndrome type Iz, Congenital disorder of glycosylation type 1z]","CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.",[616457],,,,,CAD-CDG,TRUE,FALSE,Active +GARD:13622,Legacy,GARD,,,,,,,,,,,,Discapacidad intelectual ligada al X tipo Stocco Dos Santos,TRUE,TRUE,Active +GARD:13623,Legacy,GARD,,,,,,,,,,,,Nephrotic syndrome,FALSE,FALSE,Draft +GARD:13624,Legacy,GARD,,,,,,,,,,,,Anaplastic pleomorphic xanthoastrocytoma,TRUE,FALSE,Active +GARD:13625,Legacy,GARD,,,,,,,,,,,,Derrame cerebral,FALSE,TRUE,Internal +GARD:13626,Legacy,GARD,,,,,,,,,,,,Carbohydrate malabsorption,FALSE,FALSE,Draft +GARD:13627,Legacy,GARD,,,,,,,,,,,,Ataxia espinocerebelosa con neuropatía axonal tipo 2,TRUE,TRUE,Active +GARD:13628,Legacy,GARD,,,,,,,,,,,,Polimicrogiria bilateral perisilviana,TRUE,TRUE,Active +GARD:13629,Active,Orphanet,ORPHA:139402,Disorder,[Disease],Drug reaction with eosinophilia and systemic symptoms,"[DRESS syndrome, Drug rash with eosinophilia and systemic symptoms]","A rare hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6. Onset usually occurs 2-6 weeks after administration of the causal medication and is most frequently associated with anticonvulsants and sulfonamides but other medications (allopurinol, cyclosporine, azathioprine, gold salts and antiviral agents) have also been implicated.",,,,,,Drug reaction with eosinophilia and systemic symptoms,TRUE,FALSE,Active +GARD:13630,Legacy,GARD,,,,,,,,,,,,Drug rash with eosinophilia and systemic symptoms,TRUE,FALSE,Retired +GARD:13631,Legacy,GARD,,,,,,,,,,,,Erupción con eosinofilia y síntomas sistémicos causada por medicamentos,TRUE,TRUE,Active +GARD:13632,Legacy,GARD,,,,,,,,,,,,focal epilepsy,FALSE,FALSE,Draft +GARD:13633,Legacy,GARD,,,,,,,,,,,,Pitiriasis liquenoide crónica,TRUE,TRUE,Active +GARD:13634,Legacy,GARD,,,,,,,,,,,,Pitiriasis liquenoide,TRUE,TRUE,Active +GARD:13635,Legacy,GARD,,,,,,,,,,,,Linfangioleiomiomatosis,TRUE,TRUE,Active +GARD:13636,Active,Orphanet,ORPHA:457485,Disorder,[Malformation syndrome],Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,"[MINDS syndrome, Smith-Kingsmore syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.",[616638],,,,,Smith-Kingsmore syndrome,TRUE,FALSE,Active +GARD:13637,Legacy,GARD,,,,,,,,,,,,Mielitis flácida aguda,TRUE,TRUE,Active +GARD:13638,Active,Orphanet,ORPHA:480880,Disorder,[Malformation syndrome],X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,[X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac, and urogenital anomalies, as well as hypotonia, seizures, and structural brain abnormalities, among others.",[300968],,,,,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,TRUE,FALSE,Active +GARD:13639,Active,Orphanet,ORPHA:79239,Disorder,[Disease],Classic galactosemia,"[GALT deficiency, Galactose-1-phosphate uridyltransferase deficiency, Galactosemia type 1]","A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.",[230400],,,,,Classic galactosemia,TRUE,FALSE,Active +GARD:13640,Legacy,GARD,,,,,,,,,,,,Remitting seronegative symmetrical synovitis with pitting edema,TRUE,FALSE,Active +GARD:13641,Active,Orphanet,ORPHA:221061,Disorder,[Malformation syndrome],Familial cerebral cavernous malformation,"[Familial brain cavernous angioma, Familial cerebral cavernoma, Hereditary brain cavernous angioma, Hereditary cerebral cavernoma, Hereditary cerebral cavernous malformation]","A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.","[603284, 603285, 116860]",,,,,Familial cerebral cavernous malformation,TRUE,FALSE,Active +GARD:13642,Legacy,GARD,,,,,,,,,,,,Pliegues circulares de la piel tipo Kunze,TRUE,TRUE,Active +GARD:13643,Active,Orphanet,ORPHA:35698,Group of disorders,[Category],Mitochondrial DNA depletion syndrome,[mtDNA depletion syndrome],"A clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mitochondrial DNA copy number in affected tissues without mutations or rearrangements in the mitochondrial DNA. It is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.",,,,,,Mitochondrial DNA depletion syndrome,TRUE,FALSE,Active +GARD:13644,Active,Orphanet,ORPHA:279934,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",,"A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia.",[251880],,,,,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",TRUE,FALSE,Active +GARD:13645,Legacy,GARD,,,,,,,,,,,,Auto-brewery syndrome,FALSE,FALSE,Draft +GARD:13646,Legacy,GARD,,,,,,,,,,,,carbonic anhydrase 1 variant,FALSE,FALSE,Draft +GARD:13647,Legacy,GARD,,,,,,,,,,,,Facial infiltrating lipomatosis,TRUE,FALSE,Active +GARD:13648,Legacy,GARD,,,,,,,,,,,,Lipomatosis infiltrante facial,TRUE,TRUE,Active +GARD:13649,Legacy,GARD,,,,,,,,,,,,Espectro de sindromes de sobrecrecimiento relacionado con PIK3CA,TRUE,TRUE,Active +GARD:1365,Legacy,GARD,,,,,,,,,,,,Circumscribed cutaneous aplasia of the vertex,TRUE,FALSE,Active +GARD:13650,Legacy,GARD,,,,,,,,,,,,Alcoholism,FALSE,FALSE,Draft +GARD:13651,Legacy,GARD,,,,,,,,,,,,Paraganglioma,TRUE,FALSE,Draft +GARD:13652,Legacy,GARD,,,,,,,,,,,,Erythema annulare centrifugum,FALSE,FALSE,Draft +GARD:13653,Legacy,GARD,,,,,,,,,,,,Síndrome de Meige,TRUE,TRUE,Active +GARD:13654,Legacy,GARD,,,,,,,,,,,,Generalized lipodystrophy-associated progeroid syndrome,TRUE,FALSE,Active +GARD:13655,Active,Orphanet,ORPHA:434179,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 14,"[Microcephaly-cerebral malformation-orofaciodigital syndrome, OFD14, Oral-facial-digital syndrome type 14]","Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.",[615948],,,,,Orofaciodigital syndrome 14,TRUE,FALSE,Active +GARD:13656,Legacy,GARD,,,,,,,,,,,,Enfermedad de Tay-Sachs,TRUE,TRUE,Active +GARD:13657,Legacy,GARD,,,,,,,,,,,,Anomalía de Sprengel,TRUE,TRUE,Active +GARD:13658,Active,Orphanet,ORPHA:500180,Disorder,[Disease],Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,,"A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum.",[617672],,,,,Childhood-onset neurodegeneration with brain atrophy,TRUE,FALSE,Active +GARD:13659,Legacy,GARD,,,,,,,,,,,,Hepatitis D,TRUE,FALSE,Active +GARD:1366,Legacy,GARD,,,,,,,,,,,,Circumscribed disseminated keratosis Jadassohn Lew type,TRUE,FALSE,Active +GARD:13660,Legacy,GARD,,,,,,,,,,,,Hyperlipidemia,FALSE,FALSE,Draft +GARD:13661,Active,Orphanet,ORPHA:324604,Subtype of disorder,[Clinical subtype],Classic multiminicore myopathy,"[Classic MmD, Classic multiminicore disease]",,[602771],,,,,SEPN1-related myopathy,TRUE,FALSE,Active +GARD:13662,Legacy,GARD,,,,,,,,,,,,Autosomal dominant intellectual disability 47,FALSE,FALSE,Draft +GARD:13663,Active,Orphanet,ORPHA:166282,Disorder,[Disease],Familial sick sinus syndrome,,"A rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.","[614090, 163800, 608567, 182190]",,,,,Familial sick sinus syndrome,TRUE,FALSE,Active +GARD:13664,Legacy,GARD,,,,,,,,,,,,Síndrome familiar del seno enfermo,TRUE,TRUE,Active +GARD:13665,Legacy,GARD,,,,,,,,,,,,Choroidal melanoma,FALSE,FALSE,Draft +GARD:13666,Legacy,GARD,,,,,,,,,,,,IRF2BPL-related disorders,TRUE,FALSE,Active +GARD:13667,Legacy,GARD,,,,,,,,,,,,Dependent personality disorder,FALSE,FALSE,Draft +GARD:13668,Legacy,GARD,,,,,,,,,,,,"Cerebellar ataxia, neuropathy, and vestibular arefelxia syndrome",FALSE,FALSE,Draft +GARD:13669,Legacy,GARD,,,,,,,,,,,,Leucodistrofia relacionada con POLR3,TRUE,TRUE,Active +GARD:13670,Legacy,GARD,,,,,,,,,,,,Hemoglobin D disease,FALSE,FALSE,Draft +GARD:13671,Legacy,GARD,,,,,,,,,,,,DYT-KMT2B,TRUE,FALSE,Active +GARD:13672,Legacy,GARD,,,,,,,,,,,,Distonia relacionada al gen KMT2B,TRUE,TRUE,Draft +GARD:13673,Legacy,GARD,,,,,,,,,,,,Enfermedad de Kimura,TRUE,TRUE,Active +GARD:13674,Legacy,GARD,,,,,,,,,,,,Displasia cemento-ósea florida,TRUE,TRUE,Active +GARD:13675,Legacy,GARD,,,,,,,,,,,,Tumor de Brenner del ovario,FALSE,TRUE,Active +GARD:13676,Active,Orphanet+OMIM,OMIM:615476,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 18,"[Epileptic encephalopathy, early infantile, 18]","Developmental and epileptic encephalopathy-18 (DEE18) is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, and early onset of refractory seizures. Brain imaging shows a thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by {1:Basel-Vanagaite et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615476],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,Early infantile epileptic encephalopathy 18,TRUE,FALSE,Active +GARD:13677,Legacy,GARD,,,,,,,,,,,,Fibrosis pulmonar idiopática,TRUE,TRUE,Active +GARD:13678,Legacy,GARD,,,,,,,,,,,,Síndrome de Hallermann-Streiff,TRUE,TRUE,Active +GARD:13679,Legacy,GARD,,,,,,,,,,,,Síndrome de Dyggve-Melchior-Clausen,TRUE,TRUE,Active +GARD:13680,Legacy,GARD,,,,,,,,,,,,Stankiewicz-Isidor syndrome,TRUE,FALSE,Active +GARD:13681,Legacy,GARD,,,,,,,,,,,,Early infantile epileptic encephalopathy-64,TRUE,FALSE,Active +GARD:13682,Legacy,GARD,,,,,,,,,,,,Hemangioma congénito no involutivo,TRUE,TRUE,Active +GARD:13683,Legacy,GARD,,,,,,,,,,,,TBC1D24-Related Disorders,TRUE,FALSE,Active +GARD:13684,Legacy,GARD,,,,,,,,,,,,8p inverted duplication/deletion syndrome,TRUE,FALSE,Active +GARD:13685,Legacy,GARD,,,,,,,,,,,,Enfermedad de Addison,TRUE,TRUE,Active +GARD:13686,Active,Orphanet+OMIM,OMIM:614254,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant","[Mental retardation, autosomal dominant 8, formerly]","NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by {4:Lemke et al., 2016}).",[614254],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,GRIN1-associated disorders,TRUE,FALSE,Active +GARD:13687,Legacy,GARD,,,,,,,,,,,,Bordetella bronchiseptica,FALSE,FALSE,Draft +GARD:13688,Legacy,GARD,,,,,,,,,,,,Queratosis folicular espinulosa decalvante,TRUE,TRUE,Active +GARD:13689,Legacy,GARD,,,,,,,,,,,,Follicular porokeratosis,FALSE,FALSE,Draft +GARD:1369,Active,Orphanet,ORPHA:3329,Disorder,[Malformation syndrome],Tibial aplasia-ectrodactyly syndrome,"[Aplasia of tibia with split-hand/split-foot deformity, SHFLD syndrome, SHFM associated with aplasia of long bones, Split hand/foot malformation with long bone deficiency, Split-hand/foot malformation associated with aplasia of long bones, TH-SHFM, Tibial hemimelia with split hand/foot malformation, Tibial hemimelia-ectrodactyly syndrome]",Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.,"[612576, 119100, 610685]",,,,,Cleft hand absent tibia,TRUE,FALSE,Active +GARD:13690,Legacy,GARD,,,,,,,,,,,,Macular dystrophy,FALSE,FALSE,Draft +GARD:13691,Legacy,GARD,,,,,,,,,,,,Síndrome de Lennox-Gastaut,TRUE,TRUE,Active +GARD:13692,Legacy,GARD,,,,,,,,,,,,Epstein-Barr virus infection,FALSE,FALSE,Draft +GARD:13693,Legacy,GARD,,,,,,,,,,,,Heiner syndrome,FALSE,FALSE,Draft +GARD:13694,Legacy,GARD,,,,,,,,,,,,Distal hereditary motor neuropathy type VIIB,FALSE,FALSE,Draft +GARD:13695,Legacy,GARD,,,,,,,,,,,,alpha-gal syndrome,FALSE,FALSE,Draft +GARD:13696,Legacy,GARD,,,,,,,,,,,,Lysosomal Storage Disorders,FALSE,FALSE,Draft +GARD:13697,Legacy,GARD,,,,,,,,,,,,Calcinosis tumoral familiar hiperfosfatémica,TRUE,TRUE,Active +GARD:13698,Legacy,GARD,,,,,,,,,,,,Tumores desmoides,TRUE,TRUE,Active +GARD:13699,Legacy,GARD,,,,,,,,,,,,Enteropatía congénita en penacho,TRUE,TRUE,Active +GARD:137,Legacy,GARD,,,,,,,,,,,,Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia,TRUE,FALSE,Active +GARD:13700,Legacy,GARD,,,,,,,,,,,,Hidranencefalia,TRUE,TRUE,Active +GARD:13701,Active,Orphanet,ORPHA:178540,Disorder,[Disease],Primary cutaneous follicle center lymphoma,[PCFCL],"A rare, indolent primary cutaneous B-cell lymphoma characterized by a solitary or grouped erythematous plaques or tumors, preferentially located on the head, neck or trunk region, and composed of centroblasts and centrocytes arranged in a follicular, diffuse, or mixed growth pattern. The lesions are smooth and typically do not ulcerate. The neoplastic cells express pan B cell markers and Bcl-6, and typically lack Bcl-2.",,,,,,Primary cutaneous follicle center lymphoma,TRUE,FALSE,Active +GARD:13702,Legacy,GARD,,,,,,,,,,,,Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease,TRUE,FALSE,Active +GARD:13703,Legacy,GARD,,,,,,,,,,,,Síndrome de microftalmia de Lenz,TRUE,TRUE,Active +GARD:13704,Legacy,GARD,,,,,,,,,,,,Síndrome de Rabson-Mendenhall,TRUE,TRUE,Active +GARD:13705,Legacy,GARD,,,,,,,,,,,,Lisencefalia,TRUE,TRUE,Active +GARD:13706,Legacy,GARD,,,,,,,,,,,,Mycoplasmal genitalium,FALSE,FALSE,Draft +GARD:13707,Legacy,GARD,,,,,,,,,,,,xeroderma pigmentoso,TRUE,TRUE,Active +GARD:13708,Active,Orphanet,ORPHA:280558,Disorder,[Malformation syndrome],Warsaw breakage syndrome,[WABS],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by pre- and postnatal growth restriction, microcephaly, mild to severe intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphism (with small and elongated face, bifrontal narrowing, epicanthus, short nose, small nares, dysplastic ears, and short neck). Additional variable features include limb malformations, cardiac anomalies, abnormal skin pigmentation, and recurrent infections, among others.",[613398],,,,,Warsaw breakage syndrome,TRUE,FALSE,Active +GARD:13709,Legacy,GARD,,,,,,,,,,,,Ganglioma,FALSE,FALSE,Draft +GARD:1371,Legacy,GARD,,,,,,,,,,,,Cleft lip and palate malrotation cardiopathy,TRUE,FALSE,Active +GARD:13710,Legacy,GARD,,,,,,,,,,,,Síndrome de atrofia óptica plus autosómica dominante,TRUE,TRUE,Active +GARD:13711,Legacy,GARD,,,,,,,,,,,,Síndrome IMAGe,TRUE,TRUE,Active +GARD:13712,Active,Orphanet,ORPHA:231154,Disorder,[Disease],Combined immunodeficiency due to partial RAG1 deficiency,"[CID due to partial RAG1 deficiency, CID with expansion of gamma delta T cells, Combined immunodeficiency with expansion of gamma delta T cells]",Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.,[609889],,,,,Combined immunodeficiency due to partial RAG1 deficiency,TRUE,FALSE,Active +GARD:13713,Legacy,GARD,,,,,,,,,,,,Paraplejía espástica hereditaria,TRUE,TRUE,Active +GARD:13714,Legacy,GARD,,,,,,,,,,,,Autosomal dominant intellectual disability 29,FALSE,FALSE,Draft +GARD:13715,Legacy,GARD,,,,,,,,,,,,Isolated neck extensor myopathy,FALSE,FALSE,Draft +GARD:13716,Legacy,GARD,,,,,,,,,,,,Síndrome de aniridia-ataxia cerebelosa-discapacidad intelectual,TRUE,TRUE,Active +GARD:13717,Legacy,GARD,,,,,,,,,,,,Flatback syndrome,FALSE,FALSE,Draft +GARD:13718,Legacy,GARD,,,,,,,,,,,,Embriopatía por ácido retinoico,TRUE,TRUE,Active +GARD:13719,Legacy,GARD,,,,,,,,,,,,Disequilibrium,FALSE,FALSE,Draft +GARD:1372,Legacy,GARD,,,,,,,,,,,,Cleft lip and/or palate with mucous cysts of lower,TRUE,FALSE,Retired +GARD:13720,Legacy,GARD,,,,,,,,,,,,Monosomy 21,FALSE,FALSE,Draft +GARD:13721,Legacy,GARD,,,,,,,,,,,,Trisomy 10,FALSE,FALSE,Draft +GARD:13722,Legacy,GARD,,,,,,,,,,,,Chondrodermatitis Nodularis,FALSE,FALSE,Draft +GARD:13723,Legacy,GARD,,,,,,,,,,,,Síndrome WAGR,TRUE,TRUE,Active +GARD:13724,Legacy,GARD,,,,,,,,,,,,CAMSAP1 gene mutation,FALSE,FALSE,Draft +GARD:13725,Legacy,GARD,,,,,,,,,,,,encephalitis,FALSE,FALSE,Draft +GARD:13726,Legacy,GARD,,,,,,,,,,,,Lupus Panniculitis,FALSE,FALSE,Draft +GARD:13727,Legacy,GARD,,,,,,,,,,,,Solar urticaria,FALSE,FALSE,Draft +GARD:13728,Legacy,GARD,,,,,,,,,,,,Neuromielitis óptica,TRUE,TRUE,Active +GARD:13729,Legacy,GARD,,,,,,,,,,,,Coats plus syndrome,FALSE,FALSE,Draft +GARD:13730,Legacy,GARD,,,,,,,,,,,,Síndrome de Cohen,TRUE,TRUE,Active +GARD:13731,Active,Orphanet,ORPHA:86871,Disorder,[Disease],T-cell prolymphocytic leukemia,"[T-PLL, T-cell chronic lymphocytic leukemia]","A rare mature T-cell neoplasm characterized by proliferation of small to medium-sized prolymphocytes with a mature post-thymic T-cell phenotype, involving the peripheral blood, bone marrow, lymph nodes, liver, spleen, and sometimes the skin. T-cell receptor genes are clonally rearranged. Patients typically present with hepatosplenomegaly, generalized lymphadenopathy, high leukocyte count with normal serum immunoglobulins, anemia, and thrombocytopenia. HTLV-1 serology is negative. The disease course is aggressive with generally poor prognosis.",,,,,,T-cell prolymphocytic leukemia,TRUE,FALSE,Active +GARD:13732,Legacy,GARD,,,,,,,,,,,,Shingles,FALSE,FALSE,Draft +GARD:13733,Legacy,GARD,,,,,,,,,,,,Transketolase deficiency,FALSE,FALSE,Draft +GARD:13734,Legacy,GARD,,,,,,,,,,,,BRPF1 deficiency,FALSE,FALSE,Draft +GARD:13735,Legacy,GARD,,,,,,,,,,,,Spastic paraplegia 47,TRUE,FALSE,Active +GARD:13736,Legacy,GARD,,,,,,,,,,,,X-Linked protoporphyria,FALSE,FALSE,Draft +GARD:13737,Active,Orphanet+OMIM,OMIM:613744,Subtype of disorder,[Disease subtype],"Spastic paraplegia 51, autosomal recessive","[Cerebral palsy, spastic quadriplegic, 4, formerly]","Spastic paraplegia-51 (SPG51) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity. Affected individuals also have global developmental delay with impaired intellectual development and poor or absent speech (summary by {4:Moreno-De-Luca et al., 2011}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800}).",[613744],[280763],[Severe intellectual disability and progressive spastic paraplegia],[10999],,AP-4-Associated Hereditary Spastic Paraplegia,TRUE,FALSE,Active +GARD:13738,Legacy,GARD,,,,,,,,,,,,"Inmunodeficiencia ligada al X con defectos del magnesio, infección por virus de Epstein-Barr y neoplasia",TRUE,TRUE,Active +GARD:13739,Legacy,GARD,,,,,,,,,,,,Epilepsia con crisis miotónicas astáticas,TRUE,TRUE,Active +GARD:13740,Legacy,GARD,,,,,,,,,,,,Cerebral aneurysm,FALSE,FALSE,Draft +GARD:13741,Legacy,GARD,,,,,,,,,,,,Aneurysmal subarachnoid hemorrhage,FALSE,FALSE,Draft +GARD:13742,Legacy,GARD,,,,,,,,,,,,Telangiectasia macularis eruptiva perstans,FALSE,FALSE,Draft +GARD:13743,Active,Orphanet+OMIM,OMIM:259600,Subtype of disorder,[Disease subtype],"Multicentric osteolysis, nodulosis, and arthropathy","[nao syndrome, al-aqeel sewairi syndrome, osteolysis, hereditary multicentric, nodulosis-arthropathy-osteolysis syndrome, Torg syndrome, torg-winchester syndrome, formerly]","{15:Zankl et al. (2007)} defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome ({277950}), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.",[259600],[371428],[Multicentric osteolysis-nodulosis-arthropathy spectrum],[17610],,"Multicentric osteolysis, nodulosis and arthropathy",TRUE,FALSE,Active +GARD:13744,Legacy,GARD,,,,,,,,,,,,Angiomyxoma,FALSE,FALSE,Draft +GARD:13745,Legacy,GARD,,,,,,,,,,,,Leucodistrofia autosómica dominante con enfermedad autonómica,TRUE,TRUE,Active +GARD:13746,Legacy,GARD,,,,,,,,,,,,Distrofia muscular congénita de Fukuyama,TRUE,TRUE,Active +GARD:13747,Legacy,GARD,,,,,,,,,,,,Congenital high airway obstruction syndrome,FALSE,FALSE,Draft +GARD:13748,Legacy,GARD,,,,,,,,,,,,Hiperplasia regenerativa nodular,TRUE,TRUE,Active +GARD:13749,Legacy,GARD,,,,,,,,,,,,Vulval intraepithelial neoplasia,FALSE,FALSE,Draft +GARD:1375,Legacy,GARD,,,,,,,,,,,,Cleft lip palate dysmorphism Kumar type,TRUE,FALSE,Active +GARD:13750,Legacy,GARD,,,,,,,,,,,,Síndrome de Kleefstra,TRUE,TRUE,Active +GARD:13751,Legacy,GARD,,,,,,,,,,,,Shunt extra-hepático portosistémico congénito,TRUE,TRUE,Active +GARD:13752,Legacy,GARD,,,,,,,,,,,,Hiperplasia suprarrenal congénita clásica por deficiencia de 21-hidroxilasa,TRUE,TRUE,Active +GARD:13753,Legacy,GARD,,,,,,,,,,,,NALCN-related disorders,FALSE,FALSE,Draft +GARD:13754,Legacy,GARD,,,,,,,,,,,,Chronic relapsing inflammatory optic neuropathy,FALSE,FALSE,Draft +GARD:13755,Legacy,GARD,,,,,,,,,,,,Proteinosis alveolar pulmonar congénita,TRUE,TRUE,Active +GARD:13756,Legacy,GARD,,,,,,,,,,,,Photorhabdus asymbiotica,FALSE,FALSE,Draft +GARD:13757,Legacy,GARD,,,,,,,,,,,,USP7-Related Diseases,FALSE,FALSE,Draft +GARD:13758,Legacy,GARD,,,,,,,,,,,,Mabry syndrome,FALSE,FALSE,Draft +GARD:13759,Legacy,GARD,,,,,,,,,,,,Colovesical fistula,FALSE,FALSE,Draft +GARD:13760,Legacy,GARD,,,,,,,,,,,,Yao syndrome,FALSE,FALSE,Draft +GARD:13761,Legacy,GARD,,,,,,,,,,,,Small intestine lymphoma,FALSE,FALSE,Draft +GARD:13762,Legacy,GARD,,,,,,,,,,,,Alpha-thalassemia intellectual disability syndrome linked to chromosome 16,FALSE,FALSE,Draft +GARD:13763,Legacy,GARD,,,,,,,,,,,,senile retinoschisis,FALSE,FALSE,Draft +GARD:13764,Legacy,GARD,,,,,,,,,,,,Cerebral proliferative angiopathy,FALSE,FALSE,Draft +GARD:13765,Legacy,GARD,,,,,,,,,,,,Monosomía 9p,TRUE,TRUE,Draft +GARD:13766,Legacy,GARD,,,,,,,,,,,,thrombophilia,FALSE,FALSE,Draft +GARD:13767,Legacy,GARD,,,,,,,,,,,,COPA syndrome,FALSE,FALSE,Draft +GARD:13768,Legacy,GARD,,,,,,,,,,,,HIDEA syndrome,FALSE,FALSE,Draft +GARD:13769,Legacy,GARD,,,,,,,,,,,,Xp11.22del,FALSE,FALSE,Draft +GARD:13770,Legacy,GARD,,,,,,,,,,,,Chromosome 4 inversion,FALSE,FALSE,Draft +GARD:13771,Legacy,GARD,,,,,,,,,,,,15q11q13 microduplication syndrome,FALSE,FALSE,Draft +GARD:13772,Legacy,GARD,,,,,,,,,,,,Alice in Wonderland syndrome,FALSE,FALSE,Draft +GARD:13773,Legacy,GARD,,,,,,,,,,,,Mueller Weiss syndrome,FALSE,FALSE,Draft +GARD:13774,Active,Orphanet,ORPHA:468678,Disorder,[Disease],White-Sutton syndrome,[Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome],"A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).",[616364],,,,,White Sutton syndrome,TRUE,FALSE,Draft +GARD:13775,Legacy,GARD,,,,,,,,,,,,15q26.3 microdeletion,FALSE,FALSE,Draft +GARD:13776,Legacy,GARD,,,,,,,,,,,,Delusional parasitosis,FALSE,FALSE,Draft +GARD:13777,Legacy,GARD,,,,,,,,,,,,Cholangitis,FALSE,FALSE,Draft +GARD:13778,Legacy,GARD,,,,,,,,,,,,Psychiatric disorders,FALSE,FALSE,Draft +GARD:13779,Legacy,GARD,,,,,,,,,,,,fibromyositis,FALSE,FALSE,Draft +GARD:13780,Legacy,GARD,,,,,,,,,,,,Esophageal spasm,FALSE,FALSE,Draft +GARD:13781,Active,Orphanet,ORPHA:250977,Disorder,[Disease],AICA-ribosiduria,"[5-amino-4-imidazole carboxamide ribosiduria, AICA-ribosiduria due to ATIC deficiency, AICAR transformylase/IMP cyclohydrolase deficiency, ATIC deficiency]","A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy.",[608688],,,,,AICA-ribosiduria,TRUE,FALSE,Draft +GARD:13782,Legacy,GARD,,,,,,,,,,,,Colorado Tick Fever,FALSE,FALSE,Draft +GARD:13783,Legacy,GARD,,,,,,,,,,,,Polycythemia,FALSE,FALSE,Draft +GARD:13784,Legacy,GARD,,,,,,,,,,,,Malformaciones arteriovenosas,FALSE,TRUE,Draft +GARD:13785,Legacy,GARD,,,,,,,,,,,,Pulmonary artery aneurysm,FALSE,FALSE,Draft +GARD:13786,Legacy,GARD,,,,,,,,,,,,Autosomal dominant intellectual disability 28,FALSE,FALSE,Draft +GARD:13787,Legacy,GARD,,,,,,,,,,,,Syndromic X-linked intellectual disability due to JARID1C mutation,FALSE,FALSE,Draft +GARD:13788,Legacy,GARD,,,,,,,,,,,,Kounis syndrome,FALSE,FALSE,Draft +GARD:13789,Active,Orphanet,ORPHA:597738,Disorder,[Malformation syndrome],Luscan-Lumish syndrome,[SETD2-related overgrowth syndrome],,,,,,,Luscan-Lumish syndrome,TRUE,FALSE,Draft +GARD:13790,Legacy,GARD,,,,,,,,,,,,candida auris,FALSE,FALSE,Draft +GARD:13791,Legacy,GARD,,,,,,,,,,,,Juvenile Mandibular Chronic Osteomyelitis,FALSE,FALSE,Draft +GARD:13792,Legacy,GARD,,,,,,,,,,,,Mycobacterium avium subspecies paratuberculosis infection,FALSE,FALSE,Draft +GARD:13793,Legacy,GARD,,,,,,,,,,,,Pseudomonas putida,FALSE,FALSE,Draft +GARD:13794,Legacy,GARD,,,,,,,,,,,,Squamous cell carcinoma of the intestines,TRUE,FALSE,Draft +GARD:13795,Legacy,GARD,,,,,,,,,,,,Avascular necrosis,FALSE,FALSE,Draft +GARD:13796,Legacy,GARD,,,,,,,,,,,,nevus,FALSE,FALSE,Draft +GARD:13797,Legacy,GARD,,,,,,,,,,,,adipsia,FALSE,FALSE,Draft +GARD:13798,Legacy,GARD,,,,,,,,,,,,anhydramnios,FALSE,FALSE,Draft +GARD:13799,Legacy,GARD,,,,,,,,,,,,resistant hypertension,FALSE,FALSE,Draft +GARD:1380,Legacy,GARD,,,,,,,,,,,,Cleft lip palate mental retardation corneal opacity,TRUE,FALSE,Retired +GARD:13800,Legacy,GARD,,,,,,,,,,,,Hyperhomocysteinemia,FALSE,FALSE,Draft +GARD:13801,Legacy,GARD,,,,,,,,,,,,Hyperalphalipoproteinemia,FALSE,FALSE,Draft +GARD:13802,Legacy,GARD,,,,,,,,,,,,Cirrhosis,FALSE,FALSE,Draft +GARD:13803,Legacy,GARD,,,,,,,,,,,,Scabies,FALSE,FALSE,Draft +GARD:13804,Legacy,GARD,,,,,,,,,,,,Leukoencephalopathy,FALSE,FALSE,Draft +GARD:13805,Legacy,GARD,,,,,,,,,,,,Empty nose syndrome,FALSE,FALSE,Draft +GARD:13806,Active,Orphanet,ORPHA:599082,Disorder,[Malformation syndrome],CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome,[Snijders Blok-Campeau syndrome],,[618205],,,,,Snijders Blok-Campeau syndrome,TRUE,FALSE,Draft +GARD:13807,Legacy,GARD,,,,,,,,,,,,Kleefstra Syndrome 2,FALSE,FALSE,Draft +GARD:13808,Legacy,GARD,,,,,,,,,,,,Folliculitis,FALSE,FALSE,Draft +GARD:13809,Active,Orphanet,ORPHA:227796,Disorder,[Disease],Fundus albipunctatus,,"Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.",[136880],,,,,Fundus albipunctatus,TRUE,FALSE,Draft +GARD:1381,Legacy,GARD,,,,,,,,,,,,Cleft lip palate oligodontia syndactyly pili torti,TRUE,FALSE,Active +GARD:13810,Legacy,GARD,,,,,,,,,,,,Respiratory Epithelial Adenomatoid Hamartoma,FALSE,FALSE,Draft +GARD:13811,Active,Orphanet,ORPHA:420179,Disorder,[Malformation syndrome],Malan overgrowth syndrome,[Sotos syndrome 2],"A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.",[614753],,,,,Sotos syndrome 2,TRUE,FALSE,Draft +GARD:13812,Legacy,GARD,,,,,,,,,,,,Lymphocytic gastritis,FALSE,FALSE,Draft +GARD:13813,Legacy,GARD,,,,,,,,,,,,Charcot arthropathy of the shoulder and elbow,FALSE,FALSE,Draft +GARD:13814,Legacy,GARD,,,,,,,,,,,,Spingolipid phospholyase deficiency,FALSE,FALSE,Draft +GARD:13815,Legacy,GARD,,,,,,,,,,,,Chromosome Xp duplication,FALSE,FALSE,Draft +GARD:13816,Legacy,GARD,,,,,,,,,,,,Achromatopsia,FALSE,FALSE,Draft +GARD:13817,Legacy,GARD,,,,,,,,,,,,Facioscapulohumeral muscular dystrophy type 2,FALSE,FALSE,Draft +GARD:13818,Active,Orphanet,ORPHA:506334,Disorder,[Disease],Familial steroid-resistant nephrotic syndrome with adrenal insufficiency,[Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency],"A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures).",[617575],,,,,Sphingosine phosphate lyase insufficiency syndrome,TRUE,FALSE,Active +GARD:13819,Legacy,GARD,,,,,,,,,,,,Hereditary myopathy,FALSE,FALSE,Draft +GARD:1382,Legacy,GARD,,,,,,,,,,,,Cleft lip palate pituitary deficiency,TRUE,FALSE,Active +GARD:13820,Legacy,GARD,,,,,,,,,,,,Hereditary Papulotranslucent Acrokeratoderma,TRUE,FALSE,Draft +GARD:13821,Legacy,GARD,,,,,,,,,,,,Angioma,FALSE,FALSE,Draft +GARD:13822,Legacy,GARD,,,,,,,,,,,,CDK13-Related Disorder,FALSE,FALSE,Draft +GARD:13823,Legacy,GARD,,,,,,,,,,,,Isolated methylmalonic acidemia/aciduria,TRUE,FALSE,Draft +GARD:13824,Active,Orphanet,ORPHA:324977,Disorder,[Disease],Proteasome-associated autoinflammatory syndrome,"[ALDD syndrome, Autoinflammation-lipodystrophy-dermatosis syndrome, PRAAS, Proteasome disability syndrome]","A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly.","[619183, 256040, 618048, 617591, 619175]",,,,,Proteasome-associated autoinflammatory syndrome,TRUE,FALSE,Draft +GARD:13825,Legacy,GARD,,,,,,,,,,,,Síndrome de Sheehan,TRUE,TRUE,Draft +GARD:13826,Legacy,GARD,,,,,,,,,,,,KCNMA1-Linked Channelopathy,TRUE,FALSE,Draft +GARD:13827,Legacy,GARD,,,,,,,,,,,,Human papillomavirus,FALSE,FALSE,Draft +GARD:1383,Legacy,GARD,,,,,,,,,,,,Cleft lip palate-tetraphocomelia,TRUE,FALSE,Active +GARD:1386,Legacy,GARD,,,,,,,,,,,,Cleft lower lip cleft lateral canthi chorioretinal,TRUE,FALSE,Active +GARD:1387,Legacy,GARD,,,,,,,,,,,,Cleft palate cardiac defect ectrodactyly,TRUE,FALSE,Retired +GARD:1388,Legacy,GARD,,,,,,,,,,,,Cleft palate colobomata radial synostosis deafness,TRUE,FALSE,Active +GARD:1389,Legacy,GARD,,,,,,,,,,,,Cleft palate heart disease polydactyly absent tibia,TRUE,FALSE,Active +GARD:139,Active,Orphanet,ORPHA:615,Disorder,[Disease],Familial atrial myxoma,,"Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.",[255960],,,,,"Atrial myxoma, familial",TRUE,FALSE,Active +GARD:1391,Active,Orphanet,ORPHA:2016,Disorder,[Malformation syndrome],Cleft palate-lateral synechia syndrome,[CPLS syndrome],Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.,[119550],,,,,Cleft palate lateral synechia syndrome,TRUE,FALSE,Active +GARD:1392,Active,Orphanet,ORPHA:2015,Disorder,[Malformation syndrome],Cleft palate-short stature-vertebral anomalies syndrome,[Mathieu-De Broca-Bony syndrome],"A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.",,,,,,Cleft palate short stature vertebral anomalies,TRUE,FALSE,Active +GARD:1393,Active,Orphanet,ORPHA:2010,Disorder,[Malformation syndrome],Cleft palate-stapes fixation-oligodontia syndrome,,"A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.",[216300],,,,,Cleft palate stapes fixation oligodontia,TRUE,FALSE,Active +GARD:1394,Active,Orphanet,ORPHA:324601,Disorder,[Malformation syndrome],X-linked cleft palate and ankyloglossia,,"X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.",[303400],,,,,X-linked cleft palate and ankyloglossia,TRUE,FALSE,Active +GARD:1395,Legacy,GARD,,,,,,,,,,,,Cleft tongue,TRUE,FALSE,Active +GARD:1396,Legacy,GARD,,,,,,,,,,,,Cleft upper lip median cutaneous polyps,TRUE,FALSE,Retired +GARD:140,Active,Orphanet,ORPHA:1201,Disorder,[Morphological anomaly],Atresia of small intestine,"[Apple peel syndrome, Intestinal atresia type IIIb, Jejunal atresia, Jejunoileal atresia, Small intestinal atresia]","A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction.",[243600],,,,,Atresia of small intestine,TRUE,FALSE,Active +GARD:1400,Legacy,GARD,,,,,,,,,,,,Cloacal exstrophy,TRUE,FALSE,Retired +GARD:1402,Active,Orphanet,ORPHA:93274,Subtype of disorder,[Clinical subtype],Thanatophoric dysplasia type 2,"[Cloverleaf skull-micromelic bone dysplasia syndrome, TD2, Thanatophoric dwarfism type 2, Thanatophoric dwarfism-cloverleaf skull syndrome]","A form of thanatophoric dysplasia characterized by prenatal onset of micromelia with straight femurs, platyspondyly, narrow thorax, and cloverleaf skull with increased risk of hydrocephalus and neurological complications. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, frontal bossing, midface hypoplasia, low nasal bridge, large anterior fontanel, and proptosis. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.","[187601, 156830]",,,,,Thanatophoric dysplasia type 2,TRUE,FALSE,Active +GARD:1404,Active,Orphanet+OMIM,OMIM:156830,Subtype of disorder,[Clinical subtype],Micromelic bone dysplasia with cloverleaf skull,,"In a survey of lethal osteochondrodysplasias in the county of Fyn (Funen), Denmark, {1:Andersen (1989)} found 2 cases of micromelic dysplasia with cloverleaf skull. One, a male, was born of a 49-year-old father and a 39-year-old mother who were not consanguineous. Micromelic bone dysplasia with cloverleaf skull has the same thoracic, pelvic, and spinal radiographic findings as thanatophoric dysplasia ({187600}) but does not have 'telephone receiver' femora. The micromelia is less severe than in thanatophoric dysplasia. Autosomal recessive inheritance was suggested by {2:Elejalde and de Elejalde (1985)}. The age of the father in Andersen's case suggests a new dominant mutation.\n\nIt is possible that this disorder is indeed a variant of thanatophoric dysplasia and is due to mutation in the gene for fibroblast growth factor receptor-3 (FGFR3; {134934}). {3:Tavormina et al. (1995)} found 3 mutations in that gene correlating with distinct subtypes of thanatophoric dysplasia.",[156830],[93274],[Thanatophoric dysplasia type 2],[1402],,Micromelic bone dysplasia with cloverleaf skull,TRUE,FALSE,Retired +GARD:1409,Legacy,GARD,,,,,,,,,,,,CMV antenatal infection,TRUE,FALSE,Retired +GARD:1410,Active,Orphanet,ORPHA:1454,Disorder,[Disease],Joubert syndrome with hepatic defect,"[COACH syndrome, Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis, Gentile syndrome, JS-H, Joubert syndrome with congenital hepatic fibrosis]","Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).","[619111, 216360, 619113]",,,,,COACH syndrome,TRUE,FALSE,Active +GARD:1412,Legacy,GARD,,,,,,,,,,,,Coarse face hypotonia constipation,TRUE,FALSE,Active +GARD:1413,Active,Orphanet,ORPHA:1911,Disorder,[Malformation syndrome],Cocaine embryofetopathy,[Fetal cocaine syndrome],"Cocaine embryofetopathy is a group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.",,,,,,Cocaine antenatal exposure,TRUE,FALSE,Active +GARD:1415,Active,Orphanet,ORPHA:90321,Subtype of disorder,[Clinical subtype],Cockayne syndrome type 1,[Cockayne syndrome type I],,"[216400, 133540]",,,,,Cockayne syndrome type I,TRUE,FALSE,Active +GARD:1417,Active,Orphanet,ORPHA:90324,Subtype of disorder,[Clinical subtype],Cockayne syndrome type 3,[Cockayne syndrome type III],,"[216400, 133540]",,,,,Cockayne syndrome type III,TRUE,FALSE,Active +GARD:1418,Active,Orphanet,ORPHA:1458,Disorder,[Malformation syndrome],CODAS syndrome,[Cerebrooculodentoauriculoskeletal syndrome],"Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.",[600373],,,,,CODAS syndrome,TRUE,FALSE,Active +GARD:1419,Legacy,GARD,,,,,,,,,,,,Coenzyme Q cytochrome c reductase deficiency of,TRUE,FALSE,Active +GARD:1420,Active,Orphanet,ORPHA:90322,Subtype of disorder,[Clinical subtype],Cockayne syndrome type 2,[Cockayne syndrome type II],,"[216400, 133540]",,,,,Cockayne syndrome type II,TRUE,FALSE,Active +GARD:1421,Active,Orphanet,ORPHA:1467,Disorder,[Disease],Cogan syndrome,,A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions.,,,,,,Cogan's syndrome,TRUE,FALSE,Active +GARD:1422,Legacy,GARD,,,,,,,,,,,,Cohen Hayden syndrome,TRUE,FALSE,Retired +GARD:1423,Legacy,GARD,,,,,,,,,,,,Cohen Lockood Wyborney syndrome,TRUE,FALSE,Active +GARD:1425,Active,Orphanet,ORPHA:2050,Disorder,[Malformation syndrome],Cole-Carpenter syndrome,[Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome],"An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).","[616294, 112240]",,,,,Cole Carpenter syndrome,TRUE,FALSE,Active +GARD:1428,Active,Orphanet,ORPHA:2412,Disorder,[Malformation syndrome],Dislocation of the hip-dysmorphism syndrome,[Collins-Pope syndrome],"Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.",[601450],,,,,Collins Pope syndrome,TRUE,FALSE,Active +GARD:1429,Legacy,GARD,,,,,,,,,,,,Collins Sakati syndrome,TRUE,FALSE,Active +GARD:143,Active,Orphanet,ORPHA:2220,Disorder,[Malformation syndrome],Hypertrichosis cubiti,"[Hairy elbows syndrome, MacDermot-Patton-Williams syndrome]","Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.",[139600],,,,,Hairy elbows,TRUE,FALSE,Active +GARD:1430,Legacy,GARD,,,,,,,,,,,,Coloboma chorioretinal cerebellar vermis aplasia,TRUE,FALSE,Retired +GARD:1432,Legacy,GARD,,,,,,,,,,,,Retinochoroidal coloboma,TRUE,FALSE,Active +GARD:1433,Active,Orphanet,ORPHA:98943,Disorder,[Morphological anomaly],Coloboma of eye lens,,"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual acuity. Other ocular anomalies, such as iris, choroid or optic disc colobomas, as well as cataracts and retinal detachment, may be associated.",,,,,,Coloboma of eye lens,TRUE,FALSE,Active +GARD:1434,Active,Orphanet,ORPHA:98944,Disorder,[Morphological anomaly],Coloboma of iris,,"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. 'keyhole' or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed.",[120200],,,,,Coloboma of iris,TRUE,FALSE,Active +GARD:1436,Active,Orphanet,ORPHA:98945,Disorder,[Morphological anomaly],Coloboma of macula,,"Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.",,,,,,Coloboma of macula,TRUE,FALSE,Active +GARD:1437,Active,Orphanet,ORPHA:1471,Disorder,[Malformation syndrome],Coloboma of macula-brachydactyly type B syndrome,[Sorsby syndrome],"A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits.",[120400],,,,,Coloboma of macula with type B brachydactyly,TRUE,FALSE,Active +GARD:1438,Active,Orphanet,ORPHA:98947,Disorder,[Morphological anomaly],Coloboma of optic disc,[Coloboma of optic papilla],"Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).",,,,,,Coloboma of optic papilla,TRUE,FALSE,Active +GARD:1439,Legacy,GARD,,,,,,,,,,,,Coloboma porencephaly hydronephrosis,TRUE,FALSE,Active +GARD:144,Active,Orphanet,ORPHA:2083,Disorder,[Malformation syndrome],Prominent glabella-microcephaly-hypogenitalism syndrome,[MacDermot-Winter syndrome],"Prominent glabella – microcephaly – hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.",[247990],,,,,Mac Dermot Winter syndrome,TRUE,FALSE,Active +GARD:1440,Active,Orphanet,ORPHA:1473,Disorder,[Malformation syndrome],Uveal coloboma-cleft lip and palate-intellectual disability,,"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.",[120433],,,,,Uveal coloboma-cleft lip and palate-intellectual disability,TRUE,FALSE,Active +GARD:1442,Legacy,GARD,,,,,,,,,,,,Colobomata unilobar lung heart defect,TRUE,FALSE,Active +GARD:1443,Active,Orphanet,ORPHA:77298,Disorder,[Malformation syndrome],Anophthalmia/microphthalmia-esophageal atresia syndrome,"[MCOPS3, Syndromic microphthalmia type 3]","A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.",[206900],,,,,"Syndromic microphthalmia, type 3",TRUE,FALSE,Active +GARD:1444,Legacy,GARD,,,,,,,,,,,,Colobomatous microphthalmia heart disease hearing,TRUE,FALSE,Retired +GARD:1446,Active,Orphanet,ORPHA:1198,Disorder,[Morphological anomaly],Colonic atresia,,Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.,[303650],,,,,Colonic atresia,TRUE,FALSE,Active +GARD:1448,Legacy,GARD,,,,,,,,,,,,Colver Steer Godman syndrome,TRUE,FALSE,Active +GARD:1449,Legacy,GARD,,,,,,,,,,,,Combarros Calleja Leno syndrome,TRUE,FALSE,Active +GARD:1452,Active,Orphanet+OMIM,OMIM:217000,Subtype of disorder,[Disease subtype],Complement component 2 deficiency,[C2 deficiency],,[217000],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,Complement component 2 deficiency,TRUE,FALSE,Active +GARD:1453,Legacy,GARD,,,,,,,,,,,,Complement component receptor 1,TRUE,FALSE,Active +GARD:1454,Active,Orphanet,ORPHA:1329,Disorder,[Morphological anomaly],Complete atrioventricular septal defect,"[CAVC, Complete AVSD, Complete atrioventricular canal, Complete atrioventricular canal defect, Complete atrioventricular septal defect with atrial and ventricular components]","A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. Morphologically, the common atrioventricular valve has 4 or 5 leaflets including superior and inferior bridging leaflets with a single annulus.",,,,,,Complete atrioventricular canal,TRUE,FALSE,Active +GARD:1459,Legacy,GARD,,,,,,,,,,,,Mitochondrial complex V deficiency,TRUE,FALSE,Active +GARD:1460,Active,Orphanet,ORPHA:3216,Disorder,[Malformation syndrome],Conductive deafness-malformed external ear syndrome,"[Conductive hearing loss-malformed external ear syndrome, Mengel-Konigsmark syndrome]","A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.",[221300],,,,,Conductive deafness with malformed external ear,TRUE,FALSE,Active +GARD:1462,Active,Orphanet+OMIM,OMIM:300085,Subtype of disorder,[Disease subtype],"Cone-rod dystrophy, x-linked, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see {304020}.",[300085],[1871],[Progressive cone dystrophy],[11897],,Cone-rod dystrophy X-linked 2,TRUE,FALSE,Active +GARD:1463,Active,Orphanet,ORPHA:1873,Disorder,[Malformation syndrome],Jalili syndrome,[Cone rod dystrophy-amelogenesis imperfecta syndrome],Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).,[217080],,,,,Cone-rod dystrophy amelogenesis imperfecta,TRUE,FALSE,Active +GARD:1465,Active,Orphanet,ORPHA:90790,Disorder,[Disease],Congenital lipoid adrenal hyperplasia due to STAR deficency,[CLAH],A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.,[201710],,,,,Congenital lipoid adrenal hyperplasia,TRUE,FALSE,Active +GARD:1467,Active,Orphanet,ORPHA:418,Group of disorders,[Clinical group],Congenital adrenal hyperplasia,[CAH],"A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity.","[202110, 201910, 202010, 201810, 201710, 613571]",,,,,Congenital adrenal hyperplasia,TRUE,FALSE,Active +GARD:1469,Active,Orphanet,ORPHA:90793,Disorder,[Disease],Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,"[CAH due to 17-alpha-hydroxylase deficiency, Combined 17-hydroxylase/17,20-lyase deficiency]","A rare form of congenital adrenal hyperplasia due to 17-alpha-hydroxylase (CYP17A1) deficiency and characterized by glucocorticoid deficiency, mineralocorticoid excess leading to hypokalemic hypertension and sex steroid deficiency (hypergonadotrophic hypogonadism). Undervirilization and even female phenotype in 46,XY males, primary amenorrhea in females and lack of pubertal development in both sexes is common. Residual CYP17A1 activity is associated with the severity of this condition with a large spectrum of variability, from presenting in early infancy, to unusually mild courses with isolated sex steroid deficiency but normal ACTH-stimulated cortisol in adult patients.",[202110],,,,,17-alpha-hydroxylase deficiency,TRUE,FALSE,Active +GARD:147,Legacy,GARD,,,,,,,,,,,,"Macrocephaly, benign familial",TRUE,FALSE,Active +GARD:1470,Active,Orphanet+OMIM,OMIM:300042,Subtype of disorder,[Disease subtype],"Alopecia, congenital",,,[300042],[700],[Alopecia totalis],[613],,Congenital alopecia X-linked,TRUE,FALSE,Retired +GARD:1471,Legacy,GARD,,,,,,,,,,,,Congenital amputation,TRUE,FALSE,Active +GARD:1472,Legacy,GARD,,,,,,,,,,,,Congenital aneurysms of the great vessels,TRUE,FALSE,Active +GARD:1473,Legacy,GARD,,,,,,,,,,,,Congenital articular rigidity,TRUE,FALSE,Active +GARD:1474,Active,Orphanet,ORPHA:1216,Disorder,[Disease],Autosomal dominant congenital benign spinal muscular atrophy,"[Autosomal dominant benign distal spinal muscular atrophy, Congenital benign spinal muscular atrophy with contractures, Congenital nonprogressive spinal muscular atrophy]","A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.",[600175],,,,,Congenital benign spinal muscular atrophy dominant,TRUE,FALSE,Active +GARD:1475,Active,Orphanet,ORPHA:2040,Disorder,[Morphological anomaly],Congenital respiratory-biliary fistula,,"Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.",,,,,,Congenital bronchobiliary fistula,TRUE,FALSE,Active +GARD:1477,Legacy,GARD,,,,,,,,,,,,Congenital contractures,TRUE,FALSE,Active +GARD:1478,Legacy,GARD,,,,,,,,,,,,Congenital craniosynostosis maternal hyperthyroiditis,TRUE,FALSE,Active +GARD:1479,Legacy,GARD,,,,,,,,,,,,Congenital cystic eye multiple ocular and intracranial anomalies,TRUE,FALSE,Active +GARD:148,Legacy,GARD,,,,,,,,,,,,"Mental retardation, macrocephaly, short stature and craniofacial dysmorphism",TRUE,FALSE,Retired +GARD:1480,Active,Orphanet,ORPHA:294,Disorder,[Disease],Fetal cytomegalovirus syndrome,"[Antenatal CMV infection, Antenatal cytomegalovirus infection, Mother-to-child transmission of cytomegalovirus syndrome]","A fetopathy that is likely to occur when a cytomegalovirus (CMV) infected pregnant woman transmits the virus in utero. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection.",,,,,,Congenital cytomegalovirus,TRUE,FALSE,Active +GARD:1481,Active,Orphanet,ORPHA:2140,Disorder,[Morphological anomaly],Congenital diaphragmatic hernia,[CDH],"A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension.","[222400, 610187, 142340, 306950]",,,,,Congenital diaphragmatic hernia,TRUE,FALSE,Active +GARD:1483,Legacy,GARD,,,,,,,,,,,,Congenital heart disease ptosis hypodontia craniostosis,TRUE,FALSE,Active +GARD:1484,Legacy,GARD,,,,,,,,,,,,Congenital heart disease radio ulnar synostosis mental retardation,TRUE,FALSE,Retired +GARD:1486,Legacy,GARD,,,,,,,,,,,,Congenital herpes simplex,TRUE,FALSE,Active +GARD:1487,Active,Orphanet,ORPHA:442,Group of disorders,[Category],Congenital hypothyroidism,,Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.,,,,,,Congenital hypothyroidism,TRUE,FALSE,Active +GARD:1488,Legacy,GARD,,,,,,,,,,,,Congenital hypotrichosis milia,TRUE,FALSE,Active +GARD:1489,Active,Orphanet,ORPHA:2271,Disorder,[Disease],Congenital ichthyosis-microcephalus-tetraplegia syndrome,[Congenital ichthyosis-microcephalus-quadriplegia syndrome],"A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.",,,,,,"Congenital ichthyosis, microcephalus, quadriplegia",TRUE,FALSE,Retired +GARD:149,Legacy,GARD,,,,,,,,,,,,Prostatic malacoplakia associated with prostatic abscess,TRUE,FALSE,Active +GARD:1492,Legacy,GARD,,,,,,,,,,,,Congenital megalo-ureter,TRUE,FALSE,Active +GARD:1493,Active,Orphanet,ORPHA:2665,Disorder,[Disease],Congenital mesoblastic nephroma,,"A rare renal tumor characterized by a unilateral, solitary, well demarcated, mesenchymal/myofibroblastic neoplasm occurring in very young children. Histopathologically, three subtypes (classic, cellular, and mixed) can be distinguished. The tumor most commonly involves the renal sinus and is typically discovered as a palpable abdominal mass. Patients may also present with hypertension or hematuria, rarely with hypercalcemia or hyperreninemia. Prenatal presentation, usually with polyhydramnios, is not infrequent. The most important prognostic factor is completeness of surgical resection. Overall, malignant potential is low and clinical outcome favorable.",,,,,,Congenital mesoblastic nephroma,TRUE,FALSE,Active +GARD:1495,Active,Orphanet,ORPHA:2447,Group of disorders,[Category],Congenital mitral malformation,,,,,,,,Congenital mitral malformation,TRUE,FALSE,Active +GARD:1496,Active,Orphanet,ORPHA:99057,Disorder,[Morphological anomaly],Congenital mitral stenosis,,"Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar components and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.",,,,,,Congenital mitral stenosis,TRUE,FALSE,Active +GARD:1497,Legacy,GARD,,,,,,,,,,,,Congenital myxovirus,TRUE,FALSE,Active +GARD:1498,Legacy,GARD,,,,,,,,,,,,Congenital mumps,TRUE,FALSE,Active +GARD:1499,Legacy,GARD,,,,,,,,,,,,Congenital muscular dystrophy syringomyelia,TRUE,FALSE,Retired +GARD:15,Legacy,GARD,,,,,,,,,,,,Antisocial personality disorder,FALSE,FALSE,Retired +GARD:150,Legacy,GARD,,,,,,,,,,,,Sammartino Decreccio syndrome,TRUE,FALSE,Active +GARD:1500,Active,Orphanet,ORPHA:839,Disorder,[Disease],"Congenital nephrotic syndrome, Finnish type",[Finnish congenital nephrosis],A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting in utero or during the first 3 months of life.,[256300],,,,,Congenital nephrotic syndrome Finnish type,TRUE,FALSE,Active +GARD:15000,Active,Orphanet,ORPHA:99812,Disorder,[Disease],LIG4 syndrome,"[DNA ligase IV deficiency, Ligase 4 syndrome]","LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).",[606593],,,,,,,, +GARD:15001,Active,Orphanet,ORPHA:596753,Disorder,[Disease],VEXAS syndrome,,,[301054],,,,,,,, +GARD:15002,Draft,GARD,,Disorder,[Disease],AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY,[Cleavage-resistant RIPK1-induced autoinflammatory CRIA syndrome],"Autoinflammation with episodic fever and lymphadenopathy (AIEFL) is an autosomal dominant immunologic disorder characterized by onset of recurrent episodes of unexplained fever beginning in early infancy. The episodes occur in a cyclic pattern with a frequency of every week or every few weeks and a duration of several days. Patients have accompanying lymphadenopathy, and some may have hepatosplenomegaly. Rash and genital ulcers are not observed. Patient serum shows increased levels of inflammatory cytokines and chemokines, including IL6 ({147620}) and TNF ({191160}), consistent with abnormal activation of the innate inflammatory system. Treatment with anti-IL6R ({147880}) antibodies may result in clinical improvement (summary by {1:Lalaoui et al., 2020}).",[618852],,,[30000],RDrequest.0001,,,, +GARD:15003,Active,Orphanet,ORPHA:566175,Disorder,[Disease],Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,"[CD55 deficiency, CHAPLE syndrome]",,[226300],,,,,,,, +GARD:15004,Active,Orphanet,ORPHA:306550,Disorder,[Disease],FADD-related immunodeficiency,,"FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.",[613759],,,,,,,, +GARD:15005,Draft,GARD,,Disorder,[Disease],PACAK-ZHUANG syndrome,,,,,,[30000],RDrequest.0002,,,, +GARD:15006,Draft,GARD,,Disorder,[Disease],STAT5 Haploinsuffciency,,,,,,[30000],RDRequest.0003,,,, +GARD:15007,Draft,GARD,,Disorder,[Disease],Warburg-Cinotti syndrome,,"Warburg-Cinotti syndrome (WRCN) is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis ({3:Xu et al., 2018}).",[618175],,,[30000],RDrequest.0004,,,, +GARD:15008,Draft,GARD,,Disorder,[Disease],Okur-Chung neurodevelopmental syndrome (OCNDS),,"Okur-Chung neurodevelopmental syndrome (OCNDS) is characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients ({3:Okur et al., 2016}).",[617062],,,[30000],RDRequest.0005,,,, +GARD:15010,Active,Orphanet,ORPHA:145,Disorder,[Disease],Hereditary breast and ovarian cancer syndrome,,"Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.","[612555, 604370, 614291, 613399]",,,,,,,, +GARD:15011,Active,Orphanet+OMIM,OMIM:300554,Subtype of disorder,[Clinical subtype],"Hypophosphatemic rickets, x-linked recessive",,"X-linked recessive hypophosphatemic rickets is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' ({5:Scheinman, 1998}; {2:Gambaro et al., 2004}). For a general discussion of Dent disease, see {300009}.",[300554],[93622],[Dent disease type 1],[1804],,,,, +GARD:15012,Active,Orphanet,ORPHA:667,Disorder,[Malformation syndrome],Autosomal recessive malignant osteopetrosis,[Infantile malignant osteopetrosis],Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.,"[615085, 259710, 611490, 259700]",,,,,,,, +GARD:15013,Active,Orphanet,ORPHA:1522,Disorder,[Malformation syndrome],Craniometaphyseal dysplasia,,"Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.","[218400, 123000]",,,,,,,, +GARD:15014,Active,Orphanet,ORPHA:2126,Disorder,[Disease],Solitary fibrous tumor/hemangiopericytoma,[SFT/HPC],"A rare spindle cell neoplasm that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).",[234820],,,,,,,, +GARD:15015,Active,Orphanet,ORPHA:49382,Disorder,[Disease],Achromatopsia,"[ACHM, Complete or incomplete color blindness, Pingelapese blindness, Rod monochromacy, Rod monochromatism, Total color blindness]","A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.","[262300, 216900, 613093, 613856, 610024, 616517]",,,,,,,, +GARD:15016,Active,Orphanet,ORPHA:50942,Disorder,[Disease],Striate palmoplantar keratoderma,"[Keratosis palmoplantaris striata, Keratosis palmoplantaris striata et areata, Keratosis palmoplantaris varians of Wachters]","Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.","[148700, 612908, 607654]",,,,,,,, +GARD:15017,Active,Orphanet,ORPHA:77258,Disorder,[Malformation syndrome],Trichorhinophalangeal syndrome type 1 and 3,,"A rare genetic disease characterized by sparse scalp hair, lateral thinning of eyebrows, mild facial dysmorphism (bulbous tip of the nose, long flat philtrum, thin upper lip vermilion, and protruding ears), and skeletal anomalies including cone-shaped phalangeal epiphyses, hip dysplasia, and short stature. Type 3 can be differentiated by the presence of severe brachydactyly due to short metacarpals. Cartilaginous exostoses are not present in both types.","[190350, 190351]",,,,,,,, +GARD:15018,Active,Orphanet,ORPHA:1478,Disorder,[Morphological anomaly],Interatrial communication,"[ASD, Atrial septal defect, Interauricular communication]",A congenital cardiac malformation characterized by a communication between the atrial chambers of the heart.,"[612794, 614475, 607941, 108800, 613087, 614433, 611363, 614089]",,,,,,,, +GARD:15019,Active,Orphanet,ORPHA:84090,Disorder,[Disease],Fibronectin glomerulopathy,"[GFND, Glomerulopathy with fibronectin deposits]","A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.","[601894, 137950]",,,,,,,, +GARD:1502,Active,Orphanet,ORPHA:104008,Group of disorders,[Clinical group],Short bowel syndrome,,"Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.",,,,,,Short bowel syndrome,TRUE,FALSE,Active +GARD:15020,Active,Orphanet,ORPHA:90695,Disorder,[Disease],Non-acquired panhypopituitarism,[Genetic panhypopituitarism],"A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential.","[312000, 262600]",,,,,,,, +GARD:15021,Active,Orphanet,ORPHA:95429,Disorder,[Disease],Angioma serpiginosum,,A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.,"[300652, 106050]",,,,,,,, +GARD:15022,Active,Orphanet,ORPHA:98913,Subtype of disorder,[Etiological subtype],Postsynaptic congenital myasthenic syndromes,,,"[616326, 616313, 616720, 608930, 605809, 616321, 608931, 616322, 601462, 616314, 616323, 616324, 614198, 616325, 616304, 615120, 254300]",,,,,,,, +GARD:15023,Active,Orphanet,ORPHA:98914,Subtype of disorder,[Etiological subtype],Presynaptic congenital myasthenic syndromes,,,"[617143, 616330, 616040, 618197, 618323, 254210, 616720, 617239, 615120, 618198]",,,,,,,, +GARD:15024,Active,Orphanet,ORPHA:166002,Disorder,[Disease],Multiple epiphyseal dysplasia due to collagen 9 anomaly,,"Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.","[600969, 600204, 614135]",,,,,,,, +GARD:15025,Active,Orphanet,ORPHA:169147,Disorder,[Disease],Immunodeficiency due to a classical component pathway complement deficiency,"[Immunodeficiency due to C1, C4, or C2 component complement deficiency, Immunodeficiency due to an early component of complement deficiency]","Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.","[614380, 613783, 613652, 614379, 217000, 216950]",,,,,,,, +GARD:15026,Active,Orphanet,ORPHA:183678,Subtype of disorder,[Clinical subtype],Hermansky-Pudlak syndrome due to AP-3 deficiency,[Hermansky-Pudlak syndrome with neutropenia],"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.","[608233, 617050]",,,,,,,, +GARD:15027,Active,Orphanet,ORPHA:199241,Disorder,[Disease],Pulmonary capillary hemangiomatosis,,,[234810],,,,,,,, +GARD:15028,Active,Orphanet,ORPHA:442835,Disorder,[Disease],Non-specific early-onset epileptic encephalopathy,"[Non-specific EOEE, Undetermined EOEE, Undetermined early-onset epileptic encephalopathy]","A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.","[617836, 617938, 615833, 615905, 618468, 617829, 616211, 618012, 617830, 617831, 619124, 615871, 614558, 616409, 617854, 617020, 618559, 617166, 618437, 618916, 618959, 618910, 617132, 617162, 301058, 618201, 618557, 618396, 301008, 617105, 617106, 616366, 616346, 618008, 616339, 617153, 616056, 615476]",,,,,,,, +GARD:15029,Active,Orphanet+OMIM,OMIM:100050,Subtype of disorder,[Malformation syndrome subtype],"Aarskog syndrome, autosomal dominant",,"Aarskog syndrome is characterized by short stature and facial, limb, and genital anomalies. One form of the disorder is X-linked (see {305400}), but there is also evidence for autosomal dominant and autosomal recessive ({227330}) inheritance (summary by {1:Grier et al., 1983}).",[100050],[915],[Aarskog-Scott syndrome],[4775],,,,, +GARD:1503,Active,Orphanet,ORPHA:1987,Disorder,[Malformation syndrome],Femoral agenesis/hypoplasia,"[Congenital short femur, Femoral intercalary meromelia]",Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.,,,,,,Congenital femoral deficiency,TRUE,FALSE,Active +GARD:15030,Active,Orphanet+OMIM,OMIM:101800,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]",Acrodysostosis 1 with or without hormone resistance,[Adohr],"Acrodysostosis-1 (ACRDYS1) is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by {8:Linglart et al., 2011}). However, not all patients show endocrine abnormalities ({7:Lee et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Acrodysostosis\n\nSee also ACRDYS2 ({614613}), caused by mutation in the PDE4D gene ({600129}) on chromosome 5q12.",[101800],"[280651, 950]","[Acrodysostosis with multiple hormone resistance, Acrodysostosis]","[5724, 17300]",,,,, +GARD:15031,Active,Orphanet+OMIM,OMIM:102400,Subtype of disorder,[Malformation syndrome subtype],Acroosteolysis,,,[102400],[955],[Hajdu-Cheney syndrome],[508],,,,, +GARD:15032,Active,Orphanet+OMIM,OMIM:102530,Subtype of disorder,[Clinical subtype],Spermatogenic failure 6,"[acrosome malformation of spermatozoa, round-headed spermatozoa, spermatozoa, round-headed, Globozoospermia]","Spermatogenic failure-6 (SPGF6) is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects ({9:Lalonde et al., 1988}, {11:Singh, 1992}). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon ({1:Battaglia et al., 1997}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[102530],[171709],[Male infertility due to globozoospermia],[12502],,,,, +GARD:15033,Active,Orphanet+OMIM,OMIM:103230,Subtype of disorder,[Disease subtype],"Adrenocortical hypofunction, chronic primary congenital","[Addison disease, congenital]","{1:Chuandi et al. (1985)} reported a Chinese kindred in which persons in 3 generations, and by implication at least 1 person in a fourth earlier generation, had chronic adrenal insufficiency. This was manifest by hyperpigmentation, hypernatriuria, hypokaliuria, and decreased plasma total cortisol and urine free cortisol; PTC, UFC and 17-OHCS did not respond to ACTH stimulation. Eleven affected persons in 5 sibships were identified, including several instances of male-to-male transmission.",[103230],[85138],[Addison disease],[5740],,,,, +GARD:15034,Active,Orphanet+OMIM,OMIM:103920,Subtype of disorder,[Disease subtype],"Allergic bronchopulmonary aspergillosis, familial",,,[103920],[1164],[Allergic bronchopulmonary aspergillosis],[602],,,,, +GARD:15035,Active,Orphanet+OMIM,OMIM:104000,Subtype of disorder,[Disease subtype],Alopecia areata 1,,"Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime risk of approximately 2%, making it one of the most common human autoimmune diseases. It shows a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body ({6:Gilhar and Kalish, 2006}).",[104000],[700],[Alopecia totalis],[613],,,,, +GARD:15036,Active,Orphanet+OMIM,OMIM:104290,Subtype of disorder,[Disease subtype],Alternating hemiplegia of childhood 1,,"Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment ({5:Mikati et al., 1992}).\n\nThe disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; {141500}) and GLUT1 deficiency syndrome ({606777}) ({6:Rotstein et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Alternating Hemiplegia of Childhood\n\nSee also AHC2 ({614820}), caused by mutation in the ATP1A3 gene ({182350}).",[104290],[2131],[Alternating hemiplegia of childhood],[11],,,,, +GARD:15037,Active,Orphanet+OMIM,OMIM:104500,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ib","[enamel hypoplasia, hereditary localized, Amelogenesis imperfecta, hypoplastic local, autosomal dominant, aih2]","Amelogenesis imperfecta type IB is an autosomal dominant disorder of tooth enamel biomineralization resulting in enamel hypoplasia (summary by {2:Brookes et al., 2017}).",[104500],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:15038,Active,Orphanet+OMIM,OMIM:104530,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ia","[Amelogenesis imperfecta, hypoplastic type ia]","Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see {8:Witkop, 1989}).",[104530],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:15039,Active,Orphanet+OMIM,OMIM:105650,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 1,"[aase syndrome, Dba, red cell aplasia, pure, hereditary, blackfan-diamond syndrome, aregenerative anemia, chronic congenital, erythrogenesis imperfecta, aase-smith syndrome ii, anemia, congenital hypoplastic, of blackfan and diamond, anemia, congenital erythroid hypoplastic]","Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {44:Landowski et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Diamond-Blackfan Anemia\n\nA locus for DBA (DBA2; {606129}) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 ({610629}), caused by mutation in the RPS24 gene ({602412}) on 10q22; DBA4 ({612527}), caused by mutation in the RPS17 gene ({180472}) on 15q; DBA5 ({612528}), caused by mutation in the RPL35A gene ({180468}) on 3q29; DBA6 ({612561}), caused by mutation in the RPL5 gene ({603634}) on 1p22.1; DBA7 ({612562}), caused by mutation in the RPL11 gene ({604175}) on 1p36; DBA8 ({612563}), caused by mutation in the RPS7 gene ({603658}) on 2p25; DBA9 ({613308}), caused by mutation in the RPS10 gene ({603632}) on 6p; DBA10 ({613309}), caused by mutation in the RPS26 ({603701}) gene on 12q; DBA11 ({614900}), caused by mutation in the RPL26 gene ({603704}) on 17p13; DBA12 ({615550}), caused by mutation in the RPL15 gene ({604174}) on 3p24; DBA13 ({615909}), caused by mutation in the RPS29 gene ({603633}) on 14q; DBA14 ({300946}), caused by mutation in the TSR2 gene ({300945}) on Xp11; DBA15 ({606164}), caused by mutation in the RPS28 gene ({603685}) on 19p13; DBA16 ({617408}), caused by mutation in the RPL27 gene ({607526}) on 17q21; DBA17 ({617409}), caused by mutation in the RPS27 gene ({603702}) on 1q21; DBA18 ({618310}), caused by mutation in the RPL18 gene ({604179}) on 19q; DBA19 ({618312}), caused by mutation in the RPL35 gene ({618315}) on 9q33; and DBA20 ({618313}), caused by mutation in the RPS15A gene ({603674}) on 16p.\n\n{7:Boria et al. (2010)} reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.\n\n{25:Gazda et al. (2012)} completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. {25:Gazda et al. (2012)} stated that in total these mutations account for approximately 54% of all DBA patients.\n\nIn a study of 98 Japanese patients with DBA, {64:Wang et al. (2015)} detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.",[105650],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:1504,Legacy,GARD,,,,,,,,,,,,Congenital stenosis of cervical medullary canal,TRUE,FALSE,Active +GARD:15040,Active,Orphanet+OMIM,OMIM:107000,Subtype of disorder,[Clinical subtype],"Nail disorder, nonsyndromic congenital, 6","[Anonychia/hyponychia and onychodystrophy, anonychia, partial]","Congenital absence of the nails is a rare condition. Some pedigrees display complete congenital absence of the nails (see, e.g., NDNC4, {206800}), whereas in other pedigrees there is only partial congenital anonychia, with the thumbs and great toes most severely affected and progressively less severe changes in the more lateral digits (summary by {2:Charteris, 1918}). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-6 (NDNC6).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050}).",[107000],[90390],[Anonychia-onychodystrophy syndrome],[710],,,,, +GARD:15041,Active,Orphanet+OMIM,OMIM:108420,Subtype of disorder,[Disease subtype],Spermatogenic failure 2,[Aspermiogenesis factor],"Spermatogenic failure-2 (SPGF2) is characterized by male infertility due to azoospermia ({14:Tang et al., 2020}; {1:Akbari et al., 2021}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[108420],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15042,Active,Orphanet+OMIM,OMIM:109543,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[109543],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15043,Active,Orphanet+OMIM,OMIM:109720,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 1",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {8:Kaplan, 1996}).\n\n<Subhead> Genetic Heterogeneity of Primary Biliary Cirrhosis\n\nPrimary biliary cirrhosis-1 (PBC1) is significantly associated with SNPs at the IL12A locus ({161560}) on chromosome 3q25.33.\n\nSignificant association of PBC has also been shown with SNPs at the HLA-DQB1 locus ({604305}) on chromosome 6p21.3 (PBC2; {613007}), at the IL12RB2 locus ({601642}) on chromosome 1p31.2 (PBC3; {613008}), at the IRF5 ({607218})-TNPO3 ({610032}) locus on chromosome 7q32 (PBC4; {614220}), and at the ZPBP2 locus ({608499}) on chromosome 17q12-q21 (PBC5; {614221}).\n\nSee also Reynolds syndrome ({613471}), in which primary biliary cirrhosis is a feature.",[109720],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15044,Active,Orphanet+OMIM,OMIM:109740,Subtype of disorder,[Malformation syndrome subtype],"Bifid nose, autosomal dominant",,,[109740],[2695],[Bifid nose],[884],,,,, +GARD:15045,Active,Orphanet+OMIM,OMIM:113700,Subtype of disorder,[Morphological anomaly subtype],"Breasts and/or nipples, aplasia or hypoplasia of, 1","[Amastia, athelia, amazia]","Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia ({305100}) and Poland syndrome ({173800}) (summary by {4:Papadimitriou et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Aplasia or Hypoplasia of Breasts and/or Nipples\n\nAn autosomal recessive form of breast and/or nipple aplasia or hypoplasia (BNAH2; {616001}) is caused by mutation in the PTPRF gene ({179590}) on chromosome 1p34.",[113700],[180188],[Isolated congenital breast hypoplasia/aplasia],[9489],,,,, +GARD:15046,Active,Orphanet+OMIM,OMIM:115660,Subtype of disorder,[Clinical subtype],Cataract 7,,"Cerulean cataract, first described by {4:Vogt (1922)}, is an autosomal dominant, early-onset, bilateral cataract with complete penetrance. Newborns appear asymptomatic until the age of 18 to 24 months, at which time they can be clinically diagnosed by slit-lamp examination through the appearance of tiny blue or white opacities that form first in the superficial layers of the fetal lens nucleus. The opacities progress throughout the adult lens nucleus and the cortex, forming concentric layers, with central lesions oriented radially. Histologically the lesions appear to be tapered cavities between lens fibers. Progression of the cataract is slow, such that patients may have lens extractions between the ages of 16 and 35 years ({1:Armitage et al., 1995}).\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Congenital, Cerulean Type, 1; CCA1.'",[115660],[98989],[Cerulean cataract],[9508],,,,, +GARD:15047,Active,Orphanet+OMIM,OMIM:116200,Subtype of disorder,[Malformation syndrome subtype],"Cataract 1, multiple types","[cataract, zonular pulverulent, 1, Cataract 1, multiple types, with or without microcornea, cataract, duffy-linked]","Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene.\n\nBefore it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1.",[116200],[1377],[Cataract-microcornea syndrome],[1155],,,,, +GARD:15048,Active,Orphanet+OMIM,OMIM:117550,Subtype of disorder,[Disease subtype],Sotos syndrome,"[chromosome 5q35 deletion syndrome, Cerebral gigantism, sotos syndrome 1, formerly]","Sotos syndrome (SOTOS) is a neurologic disorder characterized by overgrowth from the prenatal stage through childhood, with advanced bone age, an unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies and seizures, and impaired intellectual development (summary by {34:Kurotaki et al., 2002}).\n\nWeaver syndrome ({277590}), which shows considerable phenotypic overlap with Sotos syndrome, has been shown to be caused by mutation in the EZH2 gene ({601573}) on chromosome 7q36.",[117550],[821],[Sotos syndrome],[10091],,,,, +GARD:15049,Active,Orphanet+OMIM,OMIM:118100,Subtype of disorder,[Malformation syndrome subtype],"Klippel-feil syndrome 1, autosomal dominant","[cervical vertebral fusion, autosomal dominant, Kfs]","Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ({22:Tracy et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Klippel-Feil Syndrome\n\nAdditional forms of KFS include autosomal recessive KFS2 ({214300}), caused by mutation in the MEOX1 gene ({600147}) on chromosome 17q21, autosomal dominant KFS3 ({613702}), caused by mutation in the GDF3 gene ({606522}) on chromosome 12p13, and autosomal recessive KFS4 ({616549}), caused by mutation in the MYO18B gene ({607295}) on chromosome 22q12.\n\nSee also MURCS association ({601076}), in which Klippel-Feil anomaly is associated with urogenital anomalies.",[118100],[2345],[Isolated Klippel-Feil syndrome],[10280],,,,, +GARD:15050,Active,Orphanet+OMIM,OMIM:119100,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation with long bone deficiency 1,,"This form of split-hand/foot malformation with long bone deficiency (SHFLD1) maps to chromosome 1q42.2-q43.\n\nSee also SHFLD2 ({610685}), which maps to chromosome 6q14.1, and SHFLD3 ({612576}), which maps to chromosome 17p13.3-p13.1. Split-hand/foot malformation with fibular hypoplasia/aplasia has also been reported, see {113310}.",[119100],[3329],[Tibial aplasia-ectrodactyly syndrome],[1369],,,,, +GARD:15051,Active,Orphanet+OMIM,OMIM:120100,Subtype of disorder,[Disease subtype],Familial cold autoinflammatory syndrome 1,"[Fcas, cold-induced autoinflammatory syndrome, familial, cryopyrin-associated periodic syndrome 1, cold urticaria, familial, cold hypersensitivity]","Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' ({9:Kile and Rusk, 1940}) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis ({6:Hoffman et al., 2000}).\n\nOverlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; {191900}), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; {607115}), which shows earlier onset and a more severe phenotype.\n\n<Subhead> Genetic Heterogeneity of Familial Cold Autoinflammatory Syndrome\n\nSee also FCAS2 ({611762}), caused by mutation in the NLRP12 gene ({609648}) on chromosome 19q13; FCAS3 ({614468}), caused by mutation in the PLCG2 gene ({600220}) on chromosome 16q23; and FCAS4 ({616115}), caused by mutation in the NLRC4 gene ({606831}) on chromosome 2p22.",[120100],[47045],[Familial cold urticaria],[9535],,,,, +GARD:15052,Active,Orphanet+OMIM,OMIM:120435,Subtype of disorder,[Disease subtype],Lynch syndrome i,"[coca1, Colorectal cancer, hereditary nonpolyposis, type 1, colon cancer, familial nonpolyposis, type 1]","Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic cancer, and (2) Lynch syndrome II, or extracolonic cancer, particularly carcinoma of the stomach, endometrium (see {608089}), biliary and pancreatic system, and urinary tract ({50:Lynch and Lynch, 1979}; {51:Lynch et al., 1985}; {59:Mecklin and Jarvinen, 1991}). HNPCC disorders show a proclivity to early onset, predominant proximal location of colon cancer, a dominant pattern of inheritance, an excess of multiple primary cancers, and significantly improved survival when compared stage for stage with the American College of Surgeons Audit Series.\n\n{48:Lynch et al. (1991)} estimated that hereditary nonpolyposis colorectal cancer accounts for about 4 to 6% of colorectal cancer. The minimum criterion of HNPCC is that colorectal carcinoma is diagnosed and histologically verified in at least 3 relatives belonging to 2 or more successive generations. Moreover, the age of onset should be less than 50 years in at least 1 patient.\n\nThe Muir-Torre syndrome (MRTES; {158320}) is a form of Lynch syndrome II associated with sebaceous skin tumors.\n\n<Subhead> Genetic Heterogeneity of HNPCC\n\nHNPCC is a genetically heterogeneous disease. See also HNPCC2 ({609310}), caused by mutation in the MLH1 gene ({120436}); HNPCC4 ({614337}), caused by mutation in the PMS2 gene ({600259}); HNPCC5 ({614350}), caused by mutation in the MSH6 gene ({600678}); HNPCC6 ({614331}), caused by mutation in the TGFBR2 gene ({190182}); HNPCC7 ({614385}), caused by mutation in the MLH3 gene ({604395}). HNPCC8 ({613244}) results from epigenetic silencing of MSH2 caused by deletion of 3-prime exons of the EPCAM gene ({185535}) and intergenic regions directly upstream of the MSH2 gene.\n\nSince defects in the MSH2 gene may account for as many as 60% of HNPCC cases, and defects in the MLH1 gene may play a role in up to 30%, defects in these 2 genes likely account for the vast majority of HNPCC cases.",[120435],[144],[Lynch syndrome],[9905],,,,, +GARD:15053,Active,Orphanet+OMIM,OMIM:120502,Subtype of disorder,[Malformation syndrome subtype],Branchiootic syndrome 2,,"For a phenotypic description and a discussion of genetic heterogeneity of the branchiootic syndrome, see BOS1 ({602588}).",[120502],[52429],[Branchiootic syndrome],[10148],,,,, +GARD:15054,Active,Orphanet+OMIM,OMIM:121201,Subtype of disorder,[Disease subtype],"Seizures, benign familial neonatal, 2","[Convulsions, benign familial neonatal, 2]","Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clonic seizures in the first few days of life. Seizures tend to last for about a minute, may occur several times a day, and are responsive to medication. Almost all patients have full remission within the first months of life, although some rare patients may have a few seizures later in childhood. EEG, brain imaging, and psychomotor development are usually normal (summary by {2:Fister et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 ({121200}).",[121201],[1949],[Benign familial neonatal epilepsy],[1519],,,,, +GARD:15055,Active,Orphanet+OMIM,OMIM:123700,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal dominant 1",,"Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by {5:Davidson and Giro, 2002}).\n\nAutosomal dominant congenital cutis laxa (ADCL) is genetically heterogeneous and shows clinical variability. The characteristic loose skin may be accompanied by gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema (summary by {7:Graul-Neumann et al., 2008}).\n\nLoose, inelastic skin is a clinical feature of many disorders, e.g., geroderma osteodysplasticum (GO; {231070}) and Costello syndrome ({218040}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Cutis Laxa\n\nAlso see ADCL2 ({614434}), caused by mutation in the FBLN5 gene ({604580}) on chromosome 14q32, and ADCL3 ({616603}), caused by mutation in the ALDH18A1 ({138250}) gene on chromosome 10q24.",[123700],[90348],[Autosomal dominant cutis laxa],[1639],,,,, +GARD:15056,Active,Orphanet+OMIM,OMIM:124000,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 1",,"Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival ({2:de Lonlay et al., 2001}; {3:De Meirleir et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex III Deficiency\n\nMitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 ({615157}), caused by mutation in the TTC19 gene ({613814}) on chromosome 17p12; MC3DN3 ({615158}), caused by mutation in the UQCRB gene ({191330}) on chromosome 8q; MC3DN4 ({615159}), caused by mutation in the UQCRQ gene ({612080}) on chromosome 5q31; MC3DN5 ({615160}), caused by mutation in the UQCRC2 gene ({191329}) on chromosome 16p12; MC3DN6 ({615453}), caused by mutation in the CYC1 gene ({123980}) on chromosome 8q24; MC3DN7 ({615824}), caused by mutation in the UQCC2 gene ({614461}) on chromosome 6p21; MC3DN8 ({615838}), caused by mutation in the LYRM7 gene ({615831}) on chromosome 5q23; MC3DN9 ({616111}), caused by mutation in the UQCC3 gene ({616097}) on chromosome 11q12; and MC3DN10 ({618775}), caused by mutation in the UQCRFS1 gene ({191327}) on chromosome 19q12.\n\nSee also MTYCB ({516020}) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene.",[124000],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15057,Active,Orphanet+OMIM,OMIM:125250,Subtype of disorder,[Disease subtype],"Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",[Dominant optic atrophy plus syndrome],"Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes ({18:Yu-Wai-Man et al., 2010}).",[125250],[1215],[Autosomal dominant optic atrophy plus syndrome],[5243],,,,, +GARD:15058,Active,Orphanet+OMIM,OMIM:125800,Subtype of disorder,[Disease subtype],"Diabetes insipidus, nephrogenic, 2, autosomal","[Diabetes insipidus, nephrogenic, type ii]","Nephrogenic diabetes insipidus (NDI) is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; {192340}). Approximately 90% of patients are males with the X-linked recessive form, type I (NDI1; {304800}), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2; {300538}). The remaining 10% of patients have the autosomal form, type II (NDI2), caused by mutation in the AQP2 gene ({11:Morello and Bichet, 2001}).\n\nNeurogenic, or central, diabetes insipidus (CDI; {125700}) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.",[125800],[223],[Nephrogenic diabetes insipidus],[7178],,,,, +GARD:15059,Active,Orphanet+OMIM,OMIM:126050,Subtype of disorder,[Malformation syndrome subtype],Digitotalar dysmorphism,"[Ulnar drift, hereditary]",,[126050],[1146],[Distal arthrogryposis type 1],[787],,,,, +GARD:15060,Active,Orphanet+OMIM,OMIM:126700,Subtype of disorder,[Disease subtype],Basal laminar drusen,"[Drusen of bruch membrane, drusen, cuticular, drusen, early adult-onset, grouped]","Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. They appear as slightly raised, yellow subretinal nodules randomly scattered in the macula. 'Drusen' is the plural for 'Druse,' German for 'nodule' or 'crystal' (summary by {1:Bok, 2002}, {2:Boon et al., 2008}).",[126700],[75376],[Familial drusen],[1912],,,,, +GARD:15061,Active,Orphanet+OMIM,OMIM:128100,Subtype of disorder,[Disease subtype],"Dystonia 1, torsion, autosomal dominant","[Dystonia musculorum deformans 1, early-onset torsion dystonia]","'Dystonia' describes a neurologic condition characterized by involuntary, sustained muscle contractions affecting one or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. Dystonia has been classified as primary (dystonia as the sole or major symptom) or secondary (a symptom of another disorder), and by age of onset, muscle groups affected, and mode of inheritance ({42:Muller and Kupke, 1990}; {44:Nemeth, 2002}).",[128100],[256],[Early-onset generalized limb-onset dystonia],[2027],,,,, +GARD:15062,Active,Orphanet+OMIM,OMIM:129600,Subtype of disorder,[Malformation syndrome subtype],"Ectopia lentis 1, isolated, autosomal dominant",,"Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment ({11:Greene et al., 2010}).\n\nCiting the revised Ghent criteria for Marfan syndrome, {16:Loeys et al. (2010)} proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS).\n\n<Subhead> Genetic Heterogeneity of Isolated Ectopia Lentis\n\nAn autosomal recessive form of isolated ectopia lentis (ECTOL2; {225100}) is caused by mutation in the ADAMTSL4 gene ({610113}).",[129600],[1885],[Isolated ectopia lentis],[12251],,,,, +GARD:15063,Active,Orphanet+OMIM,OMIM:129900,Subtype of disorder,[Malformation syndrome subtype],"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1",,"This form of ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, designated EEC1, has been linked to chromosome 7q11.2-q21.3. Another form of the disorder, designated EEC3 ({604292}), is caused by mutation in the TP63 gene ({603273}).",[129900],[1896],[EEC syndrome],[2076],,,,, +GARD:15064,Active,Orphanet+OMIM,OMIM:130600,Subtype of disorder,[Disease subtype],Elliptocytosis 2,"[Elliptocytosis, rhesus-unlinked type]",,[130600],[288],[Hereditary elliptocytosis],[6621],,,,, +GARD:15065,Active,Orphanet+OMIM,OMIM:132100,Subtype of disorder,[Disease subtype],Photoparoxysmal response 1,,"The photoparoxysmal response (PPR), also referred to as photosensitivity, is defined as the abnormal occurrence of cortical spikes or spike and wave discharges on electroencephalogram (EEG) in response to intermittent light stimulation ({5:Doose and Waltz, 1993}).\n\nPhotosensitivity is a frequent finding in patients with idiopathic generalized epilepsy (see {600669}), especially those with juvenile myoclonic epilepsy, suggesting a common epileptogenic pathway for both phenomena. The comorbidity of the 2 disorders suggests that presence of PPR may also increase the risk for epilepsy ({9:Stephani et al., 2004}; {10:Tauer et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Photoparoxysmal Response\n\nThe PPR1 locus has been mapped to chromosome 6p21. See also PPR2 ({609572}), mapped to chromosome 13q31, and PPR3 ({609573}), mapped to chromosome 7q32.",[132100],[166409],[Photosensitive epilepsy],[5648],,,,, +GARD:15066,Active,Orphanet+OMIM,OMIM:133180,Subtype of disorder,[Disease subtype],"Erythroleukemia, familial, susceptibility to","[leukemia, acute myelogenous, m6, Di guglielmo disease, familial]","Familial erythroleukemia is a leukemic or preleukemic state in which red cell proliferation is the predominant feature. Hematologic characteristics include particularly ineffective and hyperplastic erythropoiesis with megaloblastic components accompanied by myeloblastic proliferation of varying degree ({11:Park et al., 2002}).\n\n{11:Park et al. (2002)} discussed the evolution of the definition of 'erythroleukemia,' which is considered by most to be a subtype of acute myelogenous leukemia (AML; {601626}). Controversy about the precise definition of erythroleukemia revolves around the number or percentage of erythroblasts and myeloblasts found in the bone marrow and peripheral circulation. In the French-American-British (FAB) classification system ({2:Bennett et al., 1985}), it is known as AML-M6, whereas in the revised World Health Organization (WHO) classification system ({6:Harris et al., 1999}), it is known as 'AML, not otherwise categorized' ({13:Zini and D'Onofrio, 2004}).",[133180],[318],[Acute erythroid leukemia],[9620],,,,, +GARD:15067,Active,Orphanet+OMIM,OMIM:133540,Subtype of disorder,[Clinical subtype],Cockayne syndrome b,,"Cockayne syndrome B (CSB) is a multisystem disorder characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer (summary by {5:Mallery et al., 1998}).\n\nCockayne syndrome A (CSA; {216400}) is caused by mutation in the ERCC8 gene ({609412}) on chromosome 5q11. Among patients with Cockayne syndrome, approximately 80% have mutations in the ERCC6 gene ({4:Licht et al., 2003}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Cockayne syndrome, see {216400}.",[133540],"[90321, 90322, 90324]","[Cockayne syndrome type 2, Cockayne syndrome type 1, Cockayne syndrome type 3]","[1417, 1415, 1420]",,,,, +GARD:15068,Active,Orphanet+OMIM,OMIM:133780,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 1,"[fevr, autosomal dominant, Exudative vitreoretinopathy, familial, autosomal dominant, criswick-schepens syndrome]","Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {22:Poulter et al., 2010}).\n\nIn 31 Chinese pedigrees clinically diagnosed with FEVR, {25:Rao et al. (2017)} analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene ({148760}) was identified in a patient who also exhibited microcephaly (MCLMR; {152950}). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered.\n\n<Subhead> Genetic Heterogeneity of Familial Exudative Vitreoretinopathy\n\nAlso see EVR2 ({305390}), caused by mutation in the NDP gene ({300658}) on chromosome Xp11; EVR3 ({605750}), mapped to 11p13-p12; EVR4 ({601813}), caused by mutations in the LRP5 gene ({603506}) on 11q13.4; EVR5 ({613310}), caused by mutation in the TSPAN12 gene ({613138}) on 7q31; EVR6 ({616468}), caused by mutation in the ZNF408 gene ({616454}) on 11p11; and EVR7 ({617572}), caused by mutation in the CTNNB1 gene ({116806}) on chromosome 3p22.",[133780],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:15069,Active,Orphanet+OMIM,OMIM:134610,Subtype of disorder,[Disease subtype],"Familial mediterranean fever, autosomal dominant","[Fmf, autosomal dominant]",,[134610],[342],[Familial Mediterranean fever],[6421],,,,, +GARD:1507,Legacy,GARD,,,,,,,,,,,,Congenital unilateral pulmonary hypoplasia,TRUE,FALSE,Active +GARD:15070,Active,Orphanet+OMIM,OMIM:135290,Subtype of disorder,[Disease subtype],"Desmoid disease, hereditary","[Fibromatosis, familial infiltrative]","Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP; {175100}), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene. The desmoid tumors are usually intraabdominal and, although benign, can be locally aggressive and result in significant morbidity. Desmoid tumors can also arise sporadically ({1:Couture et al., 2000}).",[135290],[873],[Desmoid tumor],[1820],,,,, +GARD:15071,Active,Orphanet+OMIM,OMIM:135500,Subtype of disorder,[Malformation syndrome subtype],Zimmermann-laband syndrome 1,"[Laband syndrome, fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly]","Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by {3:Balasubramanian and Parker, 2010}).\n\n<Subhead> Genetic Heterogeneity of Zimmermann-Laband Syndrome\n\nZLS2 ({616455}) is caused by mutation in the ATP6V1B2 gene ({606939}) on chromosome 8p21. ZLS3 ({618658}) is caused by mutation in the KCNN3 gene ({602983}) on chromosome 1q21.",[135500],[3473],[Zimmermann-Laband syndrome],[385],,,,, +GARD:15072,Active,Orphanet+OMIM,OMIM:135900,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 1,"[mental retardation, autosomal dominant 12, fifth digit syndrome, hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features, Coffin-siris syndrome]","Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by {40:Vergano and Deardorff, 2014}). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome ({43:Wieczorek et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Coffin-Siris Syndrome\n\nForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 ({614607}), caused by mutation in the ARID1A gene ({603024}); CSS3 ({614608}), caused by mutation in the SMARCB1 gene ({601607}); CSS4 ({614609}), caused by mutation in the SMARCA4 gene ({603254}); CSS5 ({616938}), caused by mutation in the SMARCE1 gene ({603111}); CSS6 ({617808}), caused by mutation in the ARID2 gene ({609539}); CSS7 ({618027}), caused by mutation in the DPF2 gene ({601671}); CSS8 ({618362}), caused by mutation in the SMARCC2 gene ({601734}); CSS9 ({615866}), caused by mutation in the SOX11 gene ({600898}); CSS10 ({618506}), caused by mutation in the SOX4 gene ({184430}); CSS11 ({618779}), caused by mutation in the SMARCD1 gene ({601735}); and CSS12 ({619325}), caused by mutation in the BICRA gene ({605690}).\n\nA similar phenotype, Nicolaides-Baraitser syndrome (NCBRS; {601358}), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 ({600014}).",[135900],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:15076,Active,Orphanet+OMIM,OMIM:142623,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 1","[aganglionic megacolon, megacolon, aganglionic, Hirschsprung disease]","The disorder described by {27:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid ({1:Amiel et al., 2008}). Total colonic aganglionosis and total intestinal HSCR also occur.\n\n<Subhead> Genetic Heterogeneity of Hirschsprung Disease\n\nSeveral additional loci for isolated Hirschsprung disease have been mapped. HSCR2 ({600155}) is associated with variation in the EDNRB gene ({131244}) on 13q22; HSCR3 ({613711}) is associated with variation in the GDNF gene ({600837}) on 5p13; HSCR4 ({613712}) is associated with variation in the EDN3 gene ({131242}) on 20q13; HSCR5 ({600156}) maps to 9q31; HSCR6 ({606874}) maps to 3p21; HSCR7 ({606875}) maps to 19q12; HSCR8 ({608462}) maps to 16q23; and HSCR9 ({611644}) maps to 4q31-q32.\n\nHSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome ({277580}), Mowat-Wilson syndrome ({235730}), Goldberg-Shprintzen syndrome ({609460}), and congenital central hypoventilation syndrome (CCHS; {209880}).\n\nWhereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by {1:Amiel et al., 2008}).",[142623],[388],[Hirschsprung disease],[6660],,,,, +GARD:15077,Active,Orphanet+OMIM,OMIM:144250,Subtype of disorder,[Etiological subtype],"Hyperlipidemia, familial combined, 3",[Familial combined hyperlipidemia],"Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B (APOB; {107730}). Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by {5:Bello-Chavolla et al., 2018}).\n\n{15:Goldstein et al. (1973)} gave the designation 'familial combined hyperlipidemia' to the most common genetic form of hyperlipidemia identified in a study of survivors of myocardial infarction. Affected persons characteristically showed elevation of both cholesterol and triglycerides in the blood. The combined disorder was shown to be distinct from familial hypercholesterolemia ({143890}) and from familial hypertriglyceridemia ({145750}) for the following reasons: (1) lipid distributions in relatives were unique; (2) unlike familial hypercholesterolemia, children of affected persons did not express hypercholesterolemia; and (3) informative matings suggested that variable expression of a single gene rather than segregation for 2 separate genes was responsible. This disorder leads to elevated levels of VLDL, LDL, or both in plasma. From time to time the pattern can change in a given person. Unlike familial hypercholesterolemia, hyperlipidemia appears in only 10 to 20% of patients in childhood, usually in the form of hypertriglyceridemia. Xanthomas are rare. Increased production of VLDL may be a common underlying metabolic characteristic in this disorder, which may be heterogeneous. The disorder may be 5 times as frequent as familial hypercholesterolemia, occurring in 1% of the U.S. population.\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Familial Combined Hyperlipidemia\n\nAlso see FCHL1 ({602491}), associated with variation in the USF1 gene ({191523}) on chromosome 1q23, and FCHL2 ({604499}), mapped to chromosome 11.",[144250],[309015],[Familial lipoprotein lipase deficiency],[12241],,,,, +GARD:15078,Active,Orphanet+OMIM,OMIM:146550,Subtype of disorder,[Disease subtype],Hypotrichosis 4,"[Marie unna hereditary hypotrichosis 1, hypotrichosis, marie unna type, 1]","Hypotrichosis-4 (HYPT4), also known as Marie Unna hereditary hypotrichosis-1 (MUHH1), is an autosomal dominant form of hair loss characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth. Coarse, wiry hair begins to grow during childhood. Around puberty, progressive hair loss occurs in the affected patients. Although the disorder has the potential to affect all hair shafts, progressive and patterned alopecia of the scalp is the main manifestation of the disorder (summary by {10:Mansur et al., 2010}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.\n\n<Subhead> Genetic Heterogeneity of Marie Unna Hereditary Hypotrichosis\n\nSee also MUHH2 (HYPT5; {612841}), caused by heterozygous mutation in the EPS8L3 gene (614989) on chromosome 1p13.",[146550],[444],[Marie Unna hereditary hypotrichosis],[3390],,,,, +GARD:15079,Active,Orphanet+OMIM,OMIM:147480,Subtype of disorder,[Disease subtype],"Cholestasis, intrahepatic, of pregnancy, 1","[Cholestasis, pregnancy-related, 1]","Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by {10:Pasmant et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Intrahepatic Cholestasis of Pregnancy\n\nSee also ICP3 ({614972}), caused by mutation in the ABCB4 gene ({171060}).",[147480],[69665],[Intrahepatic cholestasis of pregnancy],[9804],,,,, +GARD:1508,Legacy,GARD,,,,,,,,,,,,Congenital vagal hyperreflexivity,TRUE,FALSE,Active +GARD:15080,Active,Orphanet+OMIM,OMIM:148000,Subtype of disorder,[Disease subtype],"Kaposi sarcoma, susceptibility to","[Multiple idiopathic pigmented hemangiosarcoma, susceptibility to]","Kaposi sarcoma (KS) is an invasive angioproliferative inflammatory condition that occurs commonly in men infected with human immunodeficiency virus (HIV; see {609423}). In the early stages of KS, lesions appear reactive and are stimulated to grow by the actions of inflammatory cytokines and growth factors. In the late stages of KS, a malignant phenotype that appears to be monoclonal can develop. Infection with human herpesvirus-8 (HHV-8), also known as KS-associated herpesvirus (KSHV), is necessary but not sufficient for KS development. Coinfection with HIV markedly increases the likelihood of KS development, and additional environmental, hormonal, and genetic cofactors likely contribute to its pathogenesis (summary by {8:Foster et al., 2000}).\n\n{19:Suthaus et al. (2012)} noted that HHV-8 is the etiologic agent not only of KS, but also of primary effusion lymphoma and plasma cell-type multicentric Castleman disease (MCD).",[148000],[33276],[Kaposi sarcoma],[6814],,,,, +GARD:15081,Active,Orphanet+OMIM,OMIM:148600,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma, punctate type ia","[keratodermia palmoplantaris papulosa, buschke-fischer-brauer type, kppp1, Palmoplantar keratoderma, punctate type i, keratosis palmoplantaris papulosa]","Punctate palmoplantar keratoderma type I, also called keratosis punctate palmoplantaris type Buschke-Fisher-Brauer, is a rare autosomal dominant hereditary skin disease characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. There have been reports of an association between PPKP and the development of early- and late-onset malignancies, including squamous cell carcinoma (summary by {2:Giehl et al., 2012}).\n\nAnother form of PPKP type I has been mapped to chromosome 8q24 (PPKP1B; {614936}).\n\nOther forms of punctate palmoplantar keratoderma include a porokeratotic type (PPKP2; {175860}) and focal acrohyperkeratosis (PPKP3; {101850}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK ({144200}).",[148600],[79501],[Punctate palmoplantar keratoderma type 1],[3103],,,,, +GARD:15082,Active,Orphanet+OMIM,OMIM:153670,Subtype of disorder,[Disease subtype],"Bernard-soulier syndrome, type a2, autosomal dominant",,,[153670],[274],[Bernard-Soulier syndrome],[2470],,,,, +GARD:15083,Active,Orphanet+OMIM,OMIM:154230,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 4",,,[154230],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,,,, +GARD:15086,Active,Orphanet+OMIM,OMIM:157600,Subtype of disorder,[Disease subtype],Mirror movements 1,"[mirror movements, congenital, bimanual synergia, Mirror movements 1 and/or agenesis of the corpus callosum]","Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are occasionally found in normal young children, persistence beyond the age of 10 years is abnormal. Congenital mirror movements tend to persist throughout adulthood and tend to occur more commonly in the upper extremities (summary by {10:Sharafaddinzadeh et al., 2008} and {12:Srour et al., 2010}). Some patients with DCC mutations have agenesis of the corpus callosum ({6:Marsh et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Mirror Movements\n\nSee also MRMV2 ({614508}), caused by mutation in the RAD51 gene ({179617}) on chromosome 15q15; MRMV3 ({606059}), caused by mutation in the DNAL4 gene ({610565}) on chromosome 22q13; and MRMV4 ({618264}), caused by mutation in the NTN1 gene ({601614}) on chromosome 17p13.",[157600],[238722],[Familial congenital mirror movements],[12551],,,,, +GARD:15087,Active,Orphanet+OMIM,OMIM:158900,Subtype of disorder,[Disease subtype],Facioscapulohumeral muscular dystrophy 1,,"Facioscapulohumeral muscular dystrophy (FSHD) is a progressive skeletal muscle disorder with a highly variable phenotpye. Most patients present as adults, although about 10% show symptoms before the age of 5 years, including from infancy in some cases. In general, the disease initially involves the upper body, including the face and the scapulae, followed by weakness at the foot dorsiflexors and hip girdles. Typical features are striking asymmetry of muscle involvement from side to side and sparing of bulbar extraocular and respiratory muscles. There is significant clinical variability, even within families, as well as incomplete penetrance. FSHD1 accounts for about 95% of patients. Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD; {310200}) and myotonic ({160900}) dystrophy ({81:Tawil et al., 1998}; {94:van den Boogaard et al., 2016}; {30:Johnson and Ankala, 2020}; {72:Schatzl et al., 2021}).\n\n{65:Richards et al. (2012)} and {72:Schatzl et al. (2021)} provided detailed reviews of FSHD, including clinical features, genetics, diagnosis, pathogenesis, and potential therapeutic avenues.\n\n<Subhead> Genetic Heterogeneity of FSHD\n\nSeveral other genetic forms of FSHD that are clinically indistinguishable from FSHD1, but not associated with physical contraction of the D4Z4 microsatellite repeat, have been identified. Historically, these forms have collectively been called 'FSHD2.' Tissue from patients with 'FSHD2' shows D4Z4 hypomethylation on chromosomes 4 and 10, suggesting the presence of unique transactivating factors, some of which have been identified. Genetic forms of FSHD other than FSHD1 account for about 5% of patients overall (summary by {25:Hamanaka et al., 2020}; {30:Johnson and Ankala, 2020}; review by {72:Schatzl et al., 2021}).\n\nFSHD2 ({158901}) is caused by mutation in the SMCHD1 gene ({614982}) on chromosome 18p11; FSHD3 ({619477}) by mutation in the LRIF1 gene ({615354}) on chromosome 1p13; and FSHD4 ({619478}) by mutation in the DMNT3B gene ({602900}) on chromosome 20q11. Patients with FSHD2, FSHD3, and FSHD4 also carry a 'permissive haplotype' on chromosome 4 (4qA) that promotes DUX4 ({606009}) expression. There is significant clinical variability and incomplete penetrance.",[158900],[269],[Facioscapulohumeral dystrophy],[9941],,,,, +GARD:15088,Active,Orphanet+OMIM,OMIM:158901,Subtype of disorder,[Disease subtype],"Facioscapulohumeral muscular dystrophy 2, digenic","[muscular dystrophy, facioscapulohumeral, type 2, muscular dystrophy, facioscapulohumeral, type 1b, Fshd2, digenic]","Facioscapulohumeral muscular dystrophy-2 (FSHD2) is a form of muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities. The pattern of weakness is usually asymmetric (summary by {3:Lemmers et al., 2012}).\n\nFor a discussion of genetic heterogeneity of FSHD, see FSHD1 ({158900}), which is associated with physical contraction of D4Z4 macrosatellite repeats (see {606009}) in the subtelomeric region of chromosome 4q35. The pathogenesis of FSHD1 and FSHD2 converge at the level of D4Z4 chromatin relaxation and inappropriate expression of DUX4 in skeletal muscle (summary by {3:Lemmers et al., 2012}).",[158901],[269],[Facioscapulohumeral dystrophy],[9941],,,,, +GARD:15089,Active,Orphanet+OMIM,OMIM:159050,Subtype of disorder,[Disease subtype],"Muscular dystrophy, pseudohypertrophic, with internalized capillaries",,"{1:Hastings et al. (1980)} described 2 unrelated families, each with father and son with pseudohypertrophic muscular dystrophy. The paternal grandfather in 1 family may have been affected also. The phenotype resembled that of Becker muscular dystrophy ({300376}). The mothers showed no evidence of carrier status, but both fathers had pseudohypertrophic calves and one gave a history of weakness in childhood with subsequent improvement. Muscle histology in all 4 showed changes like those of Becker muscular dystrophy with, in addition, central cores and internalized capillaries in type I fibers. The internalized capillaries were considered unique to this disorder.",[159050],[98895],[Becker muscular dystrophy],[5900],,,,, +GARD:1509,Legacy,GARD,,,,,,,,,,,,Connective tissue dysplasia Spellacy type,TRUE,FALSE,Retired +GARD:15090,Active,Orphanet+OMIM,OMIM:160980,Subtype of disorder,[Disease subtype],"Carney complex, type 1","[carney syndrome, Carney myxoma-endocrine complex, lamb syndrome, myxoma, spotty pigmentation, and endocrine overactivity, name syndrome]","Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS; {174800}), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS; {175200}). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas ({17:Kirschner et al., 2000}; {34:Stratakis et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Carney Complex\n\nCarney complex type 2 (CNC2; {605244}) has been mapped to chromosome 2p16, indicating genetic heterogeneity.\n\nSee also isolated primary pigmented nodular adrenocortical disease (PPNAD1; {610489}) and isolated cardiac myxoma ({255960}), both of which are manifestations of the Carney complex that can be seen in isolation.\n\nA family with features of the Carney complex and distal arthrogryposis ({608837}) associated with a mutation in the MYH8 gene ({160741}) has also been reported.",[160980],[1359],[Carney complex],[1119],,,,, +GARD:15091,Active,Orphanet+OMIM,OMIM:161400,Subtype of disorder,[Disease subtype],Narcolepsy 1,[Narcoleptic syndrome 1],"{1:Adie (1926)} first delineated narcolepsy as a separate and specific entity. It is a sleep disorder characterized by attacks of disabling daytime drowsiness and low alertness. The normal physiologic components of rapid eye movement (REM) sleep, dreaming and loss of muscle tone, are separated and also occur while the subject is awake, resulting in half-sleep dreams and episodes of skeletal muscle paralysis and atonia (cataplexy and sleep paralysis). Unlike normal sleep, that of narcolepsy often begins with REM activity and the time taken to fall asleep is shorter than normal.\n\nIn contrast to animal models, human narcolepsy is not a simple genetic disorder. Most human cases of narcolepsy are sporadic and carry a specific HLA haplotype ({37:Peyron et al., 2000}). Familial cases are the exception rather than the rule, and monozygotic twins show only partial concordance (25 to 31%) ({31:Mignot, 1998}).\n\n<Subhead> Genetic Heterogeneity of Narcolepsy\n\nAdditional narcolepsy loci have been mapped to chromosomes 4 (NRCLP2; {605841}), 21q (NRCLP3; {609039}), 22q13 (NRCLP4; {612417}), 14q11 (NRCLP5; {612851}), and 19p13.2 (NRCLP6; {614223}). NRCLP7 ({614250}) is caused by mutation in the MOG gene ({159465}) on chromosome 6p22. Resistance to narcolepsy is associated with minor alleles of a SNP and a marker in the NLC1A gene ({610259}) on chromosome 21q22.",[161400],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15092,Active,Orphanet+OMIM,OMIM:161550,Subtype of disorder,[Disease subtype],"Nasopharyngeal carcinoma, susceptibility to, 2",,"Nasopharyngeal carcinoma is a multifactorial malignancy associated with both genetic and environmental factors. The cancer arises from the epithelium of the nasopharynx (summary by {6:Tse et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 ({607107}).",[161550],[150],[Nasopharyngeal carcinoma],[7163],,,,, +GARD:15093,Active,Orphanet+OMIM,OMIM:613956,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 6","[Candidiasis, familial chronic mucocutaneous, autosomal dominant]",,[613956],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15094,Active,Orphanet+OMIM,OMIM:162260,Subtype of disorder,[Disease subtype],"Neurofibromatosis, type iii, mixed central and peripheral","[nf iii, Neurofibromatosis, type iii, of riccardi, Neurofibromas, palmar cutaneous, included, neurofibromatosis, type iii, riccardi type]",,[162260],[93921],[Schwannomatosis],[4768],,,,, +GARD:15095,Active,Orphanet+OMIM,OMIM:162400,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory and autonomic, type ia","[neuropathy, hereditary sensory radicular, autosomal dominant, type 1a, neuropathy, hereditary sensory, type ia, hsn ia, hsan1, Hsan ia]","Hereditary sensory and autonomic neuropathy type IA (HSAN1A) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic (summary by {31:Rotthier et al., 2010} and {18:Gantner et al., 2019}). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits ({16:Fridman et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Sensory and Autonomic Neuropathy\n\nSee also HSAN1C ({613640}), caused by mutation in the SPTLC2 gene ({605713}) on 14q24; HSN1D ({613708}), caused by mutation in the ATL1 gene ({606439}) on 14q22; HSN1E ({614116}), caused by mutation in the DNMT1 gene ({126375}) on 19p13; HSN1F ({615632}), caused by mutation in the ATL3 gene ({609369}) on 11q13; HSAN2A ({201300}), caused by mutation in the HSN2 isoform of the WNK1 gene ({605232}) on 12p13; HSAN2B ({613115}), caused by mutation in the FAM134B gene ({613114}) on 5p15; HSN2C ({614213}), caused by mutation in the KIF1A gene ({601255}) on 2q37; HSAN2D (see {243000}), caused by mutation in the SCN9A gene ({603415}) on 2q24; HSAN3 ({223900}), caused by mutation in the ELP1 gene ({603722}) on 9q31; HSAN4 ({256800}), caused by mutation in the NTRK1 gene ({191315}) on 1q23; HSAN5 ({608654}), caused by mutation in the NGF gene ({162030}) on 1p13; HSAN6 ({614653}), caused by mutation in the DST gene ({113810}) on 6p12; HSAN7 ({615548}), caused by mutation in the SCN11A gene ({604385}) on 3p22; and HSAN8 ({616488}), caused by mutation in the PRDM12 gene ({616458}) on chromosome 9q34.\n\nAdult-onset HSAN with anosmia ({608720}) may be another distinct form of HSAN, and HSAN1B ({608088}) with cough and gastroesophageal reflux maps to chromosome 3p24-p22.",[162400],[36386],[Hereditary sensory and autonomic neuropathy type 1],[6635],,,,, +GARD:15096,Active,Orphanet+OMIM,OMIM:163500,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, autosomal dominant 2","[Night blindness, congenital stationary, rambusch type]",,[163500],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15097,Active,Orphanet+OMIM,OMIM:164310,Subtype of disorder,[Disease subtype],Oculopharyngodistal myopathy 1,"[Oculopharyngodistal myopathy, faciooculolaryngopharyngeal myopathy with distal and respiratory involvement]","Oculopharyngodistal myopathy-1 (OPDM1) is an autosomal dominant disorder characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. Skeletal muscle biopsy shows myopathic changes with rimmed vacuoles. There are variable manifestations of the disorder regarding muscle involvement and severity (summary by {2:Ishiura et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Oculopharyngodistal Myopathy\n\nSee also OPDM2 ({618940}), caused by trinucleotide repeat expansion in the GIPC1 gene ({605072}) on chromosome 19p13, and OPDM3 ({619473}), caused by trinucleotide repeat expansion in the NOTCH2NLC gene ({618025}) on chromosome 1q21.\n\nOculopharyngeal muscular dystrophy (OPMD; {164300}) is a similar disorder with overlapping features. It is caused by a similar heterozygous trinucleotide repeat expansion in the PABPN1 gene ({602279}) (summary by {1:Durmus et al., 2011}).",[164310],[98897],[Oculopharyngodistal myopathy],[12592],,,,, +GARD:15098,Active,Orphanet+OMIM,OMIM:165200,Subtype of disorder,[Disease subtype],Optic atrophy with demyelinating disease of cns,,"{1:Lees et al. (1964)} described a kindred in 5 generations of which 12 males and 3 females were affected with optic neuritis accompanied in some by neurologic manifestations resembling disseminated sclerosis. One had ataxia, right leg weakness and dysarthria. Another developed left hemiparesis during a 2-week period and then recovered partially. {2:Went (1974)} expressed the opinion that this kindred is an example of Leber optic atrophy ({535000}) and not a separate entity.",[165200],[99718],[Leber plus disease],[8476],,,,, +GARD:15099,Active,Orphanet+OMIM,OMIM:165500,Subtype of disorder,[Disease subtype],Optic atrophy 1,"[Optic atrophy, juvenile, optic atrophy, kjer type, kjer-type optic atrophy]","Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density ({37:Votruba et al., 1998}).\n\nSome patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes ({42:Yu-Wai-Man et al., 2010}).\n\n{43:Yu-Wai-Man et al. (2009)} provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON; {535000}), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders.\n\n<Subhead> Genetic Heterogeneity of Optic Atrophy\n\nAlso see optic atrophy-2 (OPA2; {311050}), mapped to chromosome Xp11.4-p11.21; OPA3 ({165300}), caused by mutation in the OPA3 gene ({606580}) on chromosome 19q13; OPA4 ({605293}), mapped to chromosome 18q12.2-q12.3; OPA5 ({610708}), caused by mutation in the DNM1L gene ({603850}) on chromosome 12p11; OPA6 ({258500}), mapped to chromosome 8q21-q22; OPA7 ({612989}), caused by mutation in the TMEM126A gene ({612988}) on chromosome 11q14; OPA8 ({616648}), mapped to chromosome 16q21-q22; OPA9 ({616289}), caused by mutation in the ACO2 gene ({100850}) on chromosome 22q13; OPA10 ({616732}), caused by mutation in the RTN4IP1 gene ({610502}) on chromosome 6q21; OPA11 ({617302}), caused by mutation in the YME1L1 gene ({607472}) on chromosome 10p12; OPA12 ({618977}), caused by mutation in the AFG3L2 gene ({604581}) on chromosome 18p11; and OPA13 ({165510}), caused by mutation in the SSBP1 gene ({600439}) on chromosome 7q34.",[165500],[98673],"[Autosomal dominant optic atrophy, classic form]",[9890],,,,, +GARD:151,Legacy,GARD,,,,,,,,,,,,Samson Gardner syndrome,TRUE,FALSE,Active +GARD:15100,Active,Orphanet+OMIM,OMIM:166230,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures",,"{1:Beighton (1981)} reported a kindred in which 20 members in at least 3 generations had opalescent teeth, blue sclerae, wormian bones, and normal height. In the 6 affected individuals who had skeletal surveys, moderate generalized osteoporosis was noted; the older individuals had mild flattening and biconcavity of the vertebral bodies. Only 1 affected individual, an adolescent male, had pronounced platybasia and had sustained 10 femoral fractures on mild trauma. Only the proband had hearing loss. No individuals had joint hyperextensibility. It is not known whether the syndrome is the same as OI type I ({166200}).",[166230],[216796],[Osteogenesis imperfecta type 1],[8694],,,,, +GARD:15101,Active,Orphanet+OMIM,OMIM:167100,Subtype of disorder,[Malformation syndrome subtype],"Hypertrophic osteoarthropathy, primary, autosomal dominant","[Pho, autosomal dominant, pdp, autosomal dominant, pachydermoperiostosis, autosomal dominant]","Autosomal dominant primary hypertrophic osteoarthropathy (PHOAD) is characterized by 3 major features: digital clubbing, periostosis, and pachydermia. Patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females ({4:Lee et al., 2016}; {8:Xu et al., 2021}).\n\n{7:Touraine et al. (1935)} recognized pachydermoperiostosis (PDP) as a familial disorder with 3 presentations or forms: a complete form with periostosis and pachydermia, an incomplete form without pachydermia, and a forme fruste with pachydermia and minimal skeletal changes.\n\n<Subhead> Genetic Heterogeneity\n\nAutosomal recessive forms of PHO have been reported (see {259100}), including PHOAR2 ({614441}), which is also caused by mutation in the SLCO2A1 gene.",[167100],[2796],[Pachydermoperiostosis],[7299],,,,, +GARD:15102,Active,Orphanet+OMIM,OMIM:167200,Subtype of disorder,[Disease subtype],Pachyonychia congenita 1,"[Pachyonychia congenita, jadassohn-lewandowsky type, formerly, jadassohn-lewandowsky syndrome, formerly]","Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {29:Sybert, 2010}; {6:Eliason et al., 2012}; {18:McLean et al., 2011}).\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{9:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{25:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {30:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.\n\n<Subhead> Genetic Heterogeneity of Pachyonychia Congenita\n\nSee pachyonychia congenita-2 (PC2; {167210}), caused by mutation in the KRT17 gene ({148069}) on chromosome 17; PC3 ({615726}), caused by mutation in the KRT6A gene ({148041}) on chromosome 2; and PC4 ({615728}), caused by mutation or in the KRT6B gene ({148042}) on chromosome 12.\n\nSee {260130} for a possible autosomal recessive form of pachyonychia congenita.",[167200],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:15103,Active,Orphanet+OMIM,OMIM:167210,Subtype of disorder,[Disease subtype],Pachyonychia congenita 2,"[Pachyonychia congenita, jackson-lawler type, formerly]","Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {13:Sybert, 2010}; {2:Eliason et al., 2012}; {7:McLean et al., 2011}).\n\nFor a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{4:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{11:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {14:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.",[167210],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:15104,Active,Orphanet+OMIM,OMIM:167755,Subtype of disorder,[Morphological anomaly subtype],"Pancreas, dorsal, agenesis of",,"Partial dorsal agenesis, or congenital short pancreas, is characterized by the presence of the accessory papilla, the terminal end of the main dorsal duct of Santorini, or the pancreatic body. All of these structures are missing in complete dorsal agenesis of the pancreas ({1:Wildling et al., 1993}).",[167755],[2805],[Partial pancreatic agenesis],[4203],,,,, +GARD:15105,Active,Orphanet+OMIM,OMIM:171300,Subtype of disorder,[Disease subtype],Pheochromocytoma,"[Pheochromocytoma, susceptibility to]","Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary ({29:Maher and Eng, 2002}; {13:Dluhy, 2002}).\n\n{3:Bolande (1974)} introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.\n\n{28:Knudson and Strong (1972)} applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.\n\n{29:Maher and Eng (2002)} reviewed the clinical entities and genes associated with pheochromocytoma.",[171300],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,,,, +GARD:15106,Active,Orphanet+OMIM,OMIM:175510,Subtype of disorder,[Disease subtype],Gist-plus syndrome,"[Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, formerly]","GIST-plus syndrome (GISTPS) is an autosomal dominant disorder characterized by incomplete penetrance of multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor (GIST), inflammatory fibroid polyps (IFP), and fibroid tumors (FT). Some patients have been reported with coarse facies and skin, broad hands and feet, and premature tooth loss. Isolated GISTs and IFPs are seen in patients with somatic PDGFRA mutations (summary by {8:Manley et al., 2018}).",[175510],[44890],[Gastrointestinal stromal tumor],[8598],,,,, +GARD:15107,Active,Orphanet+OMIM,OMIM:175780,Subtype of disorder,[Etiological subtype],Brain small vessel disease 1 with or without ocular anomalies,"[Hemiplegia, infantile, with porencephaly, leukoencephalopathy with axenfeld-rieger anomaly, porencephaly, type 1, autosomal dominant, formerly, porencephaly 1, formerly, porencephaly, type 1, formerly, brain small vessel disease with hemorrhage, brain small vessel disease with axenfeld-rieger anomaly, retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant]","Brain small vessel disease-1 is an autosomal dominant disorder with variable manifestations resulting from disruption of vascular basement membranes, particularly in the cerebral vasculature. The increased fragility of these vessels render them susceptible to hemorrhage, as early as in utero or by birth trauma, although the risk remains throughout life and some patients may present in adulthood. This genetic predisposition may extend beyond hemorrhagic stroke to include retinal and renal vascular defects. Clinical features thus reflect the location and severity of the vascular defect, including impaired neurologic development or function, hemiplegia, seizures, and variable ocular anomalies. The disturbed vasculature leads to cerebral degeneration, and brain imaging typically shows 'porencephaly,' hemosiderin deposition, calcifications, lacunar infarcts, enlarged ventricles, and leukoencephalopathy. Some patients may show 'schizencephaly' on brain imaging, which is also attributed to encephaloclastic processes, such as vascular injury. The disorder shows variable penetrance and expressivity (summary by {16:Merello et al., 2008}, {9:Gould et al., 2006}; {21:Shah et al., 2012}; {27:van der Knaap et al., 2006}; {29:Yoneda et al., 2013}).\n\n'Porencephaly' is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called 'schizencephalic', or type 2, porencephaly, is usually symmetric and may represent a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common ({2:Airaksinen, 1984}; {20:Sensi et al., 1990}).\n\n<Subhead> Genetic Heterogeneity of Brain Small Vessel Disease\n\nSee also BSVD2 ({614483}), caused by mutation in the COL4A2 gene ({120090}) on chromosome 13q34; and BSVD3 ({618360}), caused by mutation in the COLGALT1 gene ({617531}) on chromosome 19p13.",[175780],[99810],[Familial porencephaly],[2258],,,,, +GARD:15108,Active,Orphanet+OMIM,OMIM:175800,Subtype of disorder,[Disease subtype],"Porokeratosis 1, multiple types",[Porokeratosis of mibelli],"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({10:Schamroth et al., 1997}). However, as noted by {11:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and several individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as porokeratosis of Mibelli, porokeratoma, genital porokeratosis, hyperkeratotic porokeratosis, and linear porokeratosis.\n\nThe preferred title of this entry was formerly 'Porokeratosis 1, Mibelli Type; POROK1.'\n\n<Subhead> Genetic Heterogeneity of Porokeratosis\n\nAlso see porokeratosis-2 (POROK2; {175850}), mapped to chromosome 12q24; POROK3 ({175900}), caused by mutation in the MVK gene ({251170}) on chromosome 12q24; POROK4 ({607728}), mapped to chromosome 15q25-q26; POROK5 ({612293}), mapped to chromosome 1p31; POROK6 ({612353}), mapped to chromosome 1p31; POROK7 ({614714}), caused by mutation in the MVD gene ({603236}) on chromosome 16q24; POROK8 ({616063}), caused by mutation in the SLC17A9 gene ({612107}) on chromosome 20q13; and POROK9 ({616631}), caused by mutation in the FDPS gene ({134629}) on chromosome 1q22.\n\nA palmoplantar form of punctate porokeratosis has also been described (PPKP2; {175860}).\n\n<Subhead> Genotype/Phenotype Correlations\n\n{14:Zhang et al. (2015)} screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified mutations in the MVK, MVD, PMVK, and FDPS genes in 113 patients. The authors noted that giant plaque-type porokeratosis ptychotropica with lesion diameters of at least 5 cm appeared to be uniquely associated with mutation in MVK; it was observed in 19 (50%) of 38 MVK probands, but not in patients with mutations in any of the other 3 genes or in the 21 probands in whom no mutation was found. MVK patients also showed the widest range in terms of the number and size of lesions, as well as presence of porokeratosis subtypes. In patients with MVD mutations, the age of onset ranged from 5 to 70 years, and lesion diameters were generally less than 2 cm. In addition, 6 of the 62 MVD probands exhibited solar facial porokeratosis, which was not seen in any other patients. Localized genital porokeratosis and porokeratoma appeared to be uniquely associated with mutation in the PMVK gene, whereas patients with mutations in the FDPS gene had more than 500 lesions, all with diameters of 1 cm or less.",[175800],[735],[Porokeratosis of Mibelli],[4438],,,,, +GARD:15109,Active,Orphanet+OMIM,OMIM:179900,Subtype of disorder,[Disease subtype],Retinal aplasia,[Amaurosis congenita],"{2:Sorsby and Williams (1960)} observed a family with multiple cases of retinal aplasia in which inheritance was autosomal dominant. 'Retinal aplasia' is the British term for what is called 'congenital amaurosis' on the continent. Much genetic heterogeneity exists as evidenced by the demonstration of both autosomal dominant and autosomal recessive forms. This disorder, which might be called an autosomal dominant form of Leber amaurosis congenita, must be very rare. {1:Heckenlively (1988)} reported a 6-generation family with a severe progressive retinal degeneration beginning in infancy.",[179900],[65],[Leber congenital amaurosis],[634],,,,, +GARD:15110,Active,Orphanet+OMIM,OMIM:180105,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 10,,"Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses ({5:Jordan et al., 1993}; {1:Bowne et al., 2002}; {2:Bowne et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[180105],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15111,Active,Orphanet+OMIM,OMIM:180210,Subtype of disorder,[Disease subtype],"Retinopathy, pericentral pigmentary, dominant",,"{1:Grondahl (1987)} diagnosed autosomal dominant pericentral retinal dystrophy in 4 families from northern Norway. Three of these families had a pigmentary retinal degeneration of night blindness starting in the teens and leading to blindness in the sixth and seventh decades of life, after the development of bony spicules, attenuation of retinal blood vessels, and retinal atrophy. Thus, the changes were quite different from those in the sibs reported by {2:Traboulsi et al. (1988)}; see {268060}.",[180210],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15112,Active,Orphanet+OMIM,OMIM:181460,Subtype of disorder,[Disease subtype],"Schistosoma mansoni infection, susceptibility/resistance to",,,[181460],[1247],[Schistosomiasis],[9687],,,,, +GARD:15113,Active,Orphanet+OMIM,OMIM:182950,Subtype of disorder,[Disease subtype],Spinal arachnoiditis,,,[182950],[137817],[Arachnoiditis],[5839],,,,, +GARD:15114,Active,Orphanet+OMIM,OMIM:184100,Subtype of disorder,[Disease subtype],"Spondyloepiphyseal dysplasia tarda, autosomal dominant",,,[184100],[93284],[Spondyloepiphyseal dysplasia tarda],[10624],,,,, +GARD:15115,Active,Orphanet+OMIM,OMIM:186500,Subtype of disorder,[Malformation syndrome subtype],Multiple synostoses syndrome 1,"[symphalangism-brachydactyly syndrome, deafness-symphalangism syndrome of herrmann, Synostoses, multiple, with brachydactyly, wl syndrome, facioaudiosymphalangism syndrome]","Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by {16:Takahashi et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Multiple Synostoses Syndrome\n\nOther forms of multiple synostoses syndrome include SYNS2 ({610017}), caused by mutation in the GDF5 gene ({601146}) on chromosome 20q11; SYNS3 ({612961}), caused by mutation in the FGF9 gene ({600921}) on chromosome 13q12; and SYNS4 ({617898}), caused by mutation in the GDF6 gene ({601147}) on chromosome 8q22.",[186500],[3237],[Multiple synostoses syndrome],[3836],,,,, +GARD:15116,Active,Orphanet+OMIM,OMIM:187760,Subtype of disorder,[Malformation syndrome subtype],Thoracolaryngopelvic dysplasia,[Barnes syndrome],,[187760],[3317],[Thoracolaryngopelvic dysplasia],[5184],,,,, +GARD:15117,Active,Orphanet+OMIM,OMIM:187900,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 17","[Thrombasthenia-thrombocytopenia, hereditary]","Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by {4:Monteferrario et al., 2014}).",[187900],[721],[Gray platelet syndrome],[2562],,,,, +GARD:15118,Active,Orphanet+OMIM,OMIM:188400,Subtype of disorder,[Malformation syndrome subtype],Digeorge syndrome,"[hypoplasia of thymus and parathyroids, Chromosome 22q11.2 deletion syndrome, third and fourth pharyngeal pouch syndrome]","DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; {192430}); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.",[188400],[567],[22q11.2 deletion syndrome],[10299],,,,, +GARD:15119,Active,Orphanet+OMIM,OMIM:188580,Subtype of disorder,[Disease subtype],"Thyrotoxic periodic paralysis, susceptibility to, 1",,"Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP; {170400}), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by {9:Kung, 2006}).\n\n<Subhead> Genetic Heterogeneity of Thyrotoxic Periodic Paralysis\n\nSee also TTPP2 ({613239}), conferred by variation in the KCNJ18 gene ({613236}) on chromosome 17p11, and TTPP3 ({614834}), mapped to chromosome 17q24.",[188580],[79102],[Thyrotoxic periodic paralysis],[10814],,,,, +GARD:1512,Active,Orphanet,ORPHA:972,Disorder,[Disease],Hereditary continuous muscle fiber activity,,"Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.",[160120],,,,,Hereditary continuous muscle fiber activity,TRUE,FALSE,Active +GARD:15120,Active,Orphanet+OMIM,OMIM:188700,Subtype of disorder,[Malformation syndrome subtype],"Blount disease, infantile","[tibia vara, infantile, Osteochondrosis deformans tibiae, infantile]","Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by {7:Sabharwal, 2009}).",[188700],[2768],[Blount disease],[916],,,,, +GARD:15121,Active,Orphanet+OMIM,OMIM:191100,Subtype of disorder,[Disease subtype],Tuberous sclerosis 1,"[Tuberous sclerosis complex, tuberose sclerosis]","Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by {19:Crino et al., 2006} and {20:Curatolo et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Tuberous Sclerosis\n\nSee also tuberous sclerosis-2 ({613254}), which is caused by mutation in the TSC2 gene ({191092}) on chromosome 16p13.\n\nApproximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease ({19:Crino et al., 2006}) (see GENOTYPE/PHENOTYPE CORRELATIONS section).",[191100],[805],[Tuberous sclerosis complex],[7830],,,,, +GARD:15122,Active,Orphanet+OMIM,OMIM:191480,Subtype of disorder,[Disease subtype],Uncombable hair syndrome 1,"[pili trianguli et canaliculi, Uncombable hair syndrome]","Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by {14:U. Basmanav et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Uncombable Hair Syndrome\n\nSee UHS2 ({617251}), caused by mutation in the TGM3 gene ({600238}) on chromosome 20p12, and UHS3 ({617252}), caused by mutation in the TCHH gene ({190370}) on chromosome 1q21.",[191480],[1410],[Uncombable hair syndrome],[5404],,,,, +GARD:15123,Active,Orphanet+OMIM,OMIM:192430,Subtype of disorder,[Malformation syndrome subtype],Velocardiofacial syndrome,"[Chromosome 22q11.2 deletion syndrome, vcf syndrome, shprintzen vcf syndrome]",,[192430],[567],[22q11.2 deletion syndrome],[10299],,,,, +GARD:15124,Active,Orphanet+OMIM,OMIM:194070,Subtype of disorder,[Disease subtype],Wilms tumor 1,[Nephroblastoma],"Wilms tumor is the most common renal tumor of childhood, occurring with an incidence of 1 in 10,000 and with a median age of diagnosis between 3 and 4 years of age. Wilms tumors are thought to develop from abnormally persistent embryonal cells within nephrogenic rests. Histologically, Wilms tumor mirrors the development of the normal kidney and classically consists of 3 cell types: blastema, epithelia, and stroma (summary by {90:Slade et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Wilms Tumor\n\nSusceptibility to Wilms tumor is genetically heterogeneous. WT2 ({194071}) is caused by mutation in the H19/IGF2-imprinting control region (ICR1; {616186}) on chromosome 11p15. WT3 ({194090}) represents a locus mapped to chromosome 16q. WT4 ({601363}) represents a locus mapped to chromosome 17q12-q21. WT5 ({601583}) is caused by mutation in the POU6F2 gene ({609062}) on chromosome 7p14. WT6 ({616806}) is caused by mutation in the REST gene ({600571}) on chromosome 4q12.\n\nMutations in the BRCA2 gene ({600185}) have also been reported in Wilms tumor. Rare somatic and constitutional disruption of the HACE1 gene ({610876}) has also been reported in Wilms tumor.\n\nSomatic mutations in the glypican-3 gene (GPC3; {300037}) have been described in Wilms tumor. Somatic mutations in the WTX gene ({300647}) on the single X allele in tumors from males and on the active X allele in tumors from females have also been described.",[194070],[654],[Nephroblastoma],[7892],,,,, +GARD:15125,Active,Orphanet+OMIM,OMIM:194090,Subtype of disorder,[Disease subtype],Wilms tumor 3,,"For a general phenotypic description and a discussion of genetic heterogeneity of Wilms tumor, see WT1 ({194070}).",[194090],[654],[Nephroblastoma],[7892],,,,, +GARD:15126,Active,Orphanet+OMIM,OMIM:194380,Subtype of disorder,[Disease subtype],Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema,"[xerocytosis, hereditary, Dehydrated hereditary stomatocytosis, pseudohyperkalemia, familial, 1, due to red cell leak, desiccytosis, hereditary, pseudohyperkalemia edinburgh]","Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by {42:Zarychanski et al., 2012}). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by {1:Albuisson et al., 2013}).\n\nDehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria ({38:Tiffert et al., 2005}). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).\n\nThe 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by {17:Iolascon et al., 1999}).\n\n{7:Carella et al. (2004)} noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. {12:Gore et al. (2004)} stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree.\n\n<Subhead> Genetic Heterogeneity of Hereditary Stomatocytosis\n\nDehydrated hereditary stomatocytosis-2 (DHS2; {616689}) is caused by mutation in the KCNN4 gene ({602754}) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2; {609153}), is caused by mutation in the ABCB6 gene ({605452}) on chromosome 2q35. Cryohydrocytosis (CHC; {185020}) is caused by mutation in the SLC4A1 gene ({109270}) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN; {608885}) is caused by mutation in the SLC2A1 gene ({138140}) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST; {185000}) is caused by mutation in the RHAG gene ({180297}) on chromosome 6p12.\n\nSee {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome.\n\n<Subhead> Reviews\n\n{9:Delaunay (2004)} reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.\n\n{6:Bruce (2009)} provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. {6:Bruce (2009)} suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.\n\n{20:King and Zanella (2013)} provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis ({266140}); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. {19:King et al. (2015)} reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.",[194380],[3202],[Dehydrated hereditary stomatocytosis],[5623],,,,, +GARD:15127,Active,Orphanet+OMIM,OMIM:200100,Subtype of disorder,[Disease subtype],Abetalipoproteinemia,"[Acanthocytosis, mtp deficiency, bassen-kornzweig syndrome, microsomal triglyceride transfer protein deficiency]","Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; {615558}) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by {20:Lee and Hegele, 2014}).",[200100],[14],[Abetalipoproteinemia],[5],,,,, +GARD:15128,Active,Orphanet+OMIM,OMIM:201000,Subtype of disorder,[Malformation syndrome subtype],Carpenter syndrome 1,"[Carpenter syndrome, acrocephalopolysyndactyly type ii, acps ii]","Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by {2:Altunhan et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Carpenter Syndrome\n\nCarpenter syndrome-2 (CRPT2; {614976}), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene ({604267}).",[201000],[65759],[Carpenter syndrome],[6003],,,,, +GARD:15129,Active,Orphanet+OMIM,OMIM:201300,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory and autonomic, type iia","[acroosteolysis, giaccai type, neuropathy, hereditary sensory radicular, autosomal recessive, morvan disease, neuropathy, hereditary sensory, type iia, neuropathy, congenital sensory, acroosteolysis, neurogenic, hsn iia, Hsan iia, neuropathy, progressive sensory, of children]",,[201300],[970],[Hereditary sensory and autonomic neuropathy type 2],[3976],,,,, +GARD:1513,Active,Orphanet,ORPHA:725,Disorder,[Disease],Continuous spikes and waves during sleep,"[CSWS, CSWSS syndrome, Continuous spikes and waves during slow-wave sleep, Epileptic encephalopathy with continuous spike-and-wave during slow sleep]","Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.",[245570],,,,,Continuous spike-wave during slow sleep syndrome,TRUE,FALSE,Active +GARD:15130,Active,Orphanet+OMIM,OMIM:201310,Subtype of disorder,[Malformation syndrome subtype],"Acrorenal syndrome, autosomal recessive",,"{3:Miltenyi et al. (1992)} described a brother and sister with tetraectrodactyly and oligomeganephronic renal hypoplasia. {2:Miltenyi et al. (1984)} described a brother who died at the age of 27 months of renal insufficiency. Five years later the mother gave birth to a girl with the same disorder. The girl required chronic peritoneal dialysis after the age of 4 years. Her feet showed typical lobster claw deformity. On both hands, only the fourth and fifth fingers were present with clinodactyly of the latter one. {1:Akl (1994)} described a 4-year-old boy who had chronic renal failure secondary to focal segmental glomerular sclerosis as well as abnormalities of the right hand. The parents were first cousins. A female sib, 1 year of age, and a 1-year-old male first cousin had chronic renal failure; neither had hand abnormalities. The fathers, who were brothers, married their first cousins, who were sisters.",[201310],[971],[Acrorenal syndrome],[514],,,,, +GARD:15131,Active,Orphanet+OMIM,OMIM:202155,Subtype of disorder,[Disease subtype],"Adrenal hypoplasia, cytomegalic type",,"Congenital hypoplasia of the adrenal glands occurs as an X-linked disorder ({300200}) and as an autosomal recessive disorder ({240200}). The histologic findings are different in the two: the X-linked form is sometimes referred to as the cytomegalic type because of the large cells present as the only remaining cortical tissue. In the autosomal recessive form, there is absence or near absence of both fetal and permanent cortex, resulting in what is sometimes called the 'miniature adult' type because the small adrenal cortex consists almost exclusively of permanent cortex. {1:Kruger et al. (1993)} presented the case of a female small-for-dates infant who died at age 7 weeks and was found to have cytomegalic congenital adrenal hypoplasia. The second child of the same parents was also a girl with adrenocortical insufficiency; at the age of 1 year, her adrenal glands could not be identified by computed tomography.",[202155],[95702],[X-linked adrenal hypoplasia congenita],[555],,,,, +GARD:15132,Active,Orphanet+OMIM,OMIM:202300,Subtype of disorder,[Disease subtype],"Adrenocortical carcinoma, hereditary",,"Adrenocortical carcinoma (ADCC) is a rare but aggressive childhood tumor, representing about 0.4% of childhood tumors, with a high incidence of associated tumors. ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome ({130650}) and is a component tumor in Li-Fraumeni syndrome (LFS; {151623}).",[202300],[1501],[Adrenocortical carcinoma],[558],,,,, +GARD:15133,Active,Orphanet+OMIM,OMIM:202355,Subtype of disorder,[Disease subtype],Adrenocortical unresponsiveness to acth with postreceptor defect,[Familial glucocorticoid deficiency due to defect distal to acth receptor],"{2:Yamaoka et al. (1992)} described a 26-year-old Japanese male and his 29-year-old male cousin referred for hyperpigmentation and found to have unresponsiveness to ACTH, which they suggested might be due to a pathogenic defect occurring after cAMP generation. Although the patients showed increased plasma ACTH, decreased plasma cortisol and dehydroepiandrosterone, and no steroidogenic response to exogenous ACTH, they responded normally to both furosemide administration and to a low sodium diet by showing increases in plasma aldosterone. ACTH receptors in peripheral blood mononuclear leukocytes were normal in contrast to the deficiency reported by {1:Smith et al. (1987)} in a patient with the usual form of hereditary adrenocortical unresponsiveness to ACTH ({202200}). ACTH receptors in monocytes from these patients were similar to those from a normal control subject in both number and affinity.",[202355],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:15134,Active,Orphanet+OMIM,OMIM:202370,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 2b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {2:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX5 gene have cells of complementation group 2 (CG2). For information on the history of PBD complementation groups, see {214100}.",[202370],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15135,Active,Orphanet+OMIM,OMIM:203655,Subtype of disorder,[Disease subtype],Alopecia universalis congenita,"[Atrichia, generalized]","Alopecia universalis congenita is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair ({7:Nothen et al., 1998}).\n\nThis rare disorder is clearly distinct from alopecia areata (AA1; {104000}), which has an autoimmune basis with probable genetic predisposition.",[203655],[701],[Alopecia universalis],[614],,,,, +GARD:15136,Active,Orphanet+OMIM,OMIM:204650,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ic","[amelogenesis imperfecta, hypoplastic, with or without open-bite malocclusion, autosomal recessive, Amelogenesis imperfecta, local hypoplastic type, autosomal recessive]",,[204650],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:15137,Active,Orphanet+OMIM,OMIM:205100,Subtype of disorder,[Disease subtype],"Amyotrophic lateral sclerosis 2, juvenile","[Als, juvenile]",,[205100],[300605],[Juvenile amyotrophic lateral sclerosis],[11901],,,,, +GARD:15138,Active,Orphanet+OMIM,OMIM:205250,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis with polyglucosan bodies,,"{2:Orthner et al. (1973)} reported 2 sisters with onset of ALS at 38 and 39 years of age, and death after 14 and 26 months, respectively. Weakness began in the arms and later involved the legs. Bulbar signs and symptoms followed. Autopsy showed marked loss of motor neurons. Polyglucosan bodies were found in perikarya in the cortex and cerebellum. {1:Barz et al. (1976)} reported 2 sporadic cases.",[205250],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15139,Active,Orphanet+OMIM,OMIM:208085,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, renal dysfunction, and cholestasis 1",[Arc syndrome],,[208085],[2697],[Arthrogryposis-renal dysfunction-cholestasis syndrome],[794],,,,, +GARD:15140,Active,Orphanet+OMIM,OMIM:208500,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 1 with or without polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {15:Huber and Cormier-Daire, 2012} and {33:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\n<Subhead> Genetic Heterogeneity of Asphyxiating Thoracic Dysplasia\n\nSRTD1 has been mapped to chromosome 15q13. See also SRTD2 ({611263}), caused by mutation in the IFT80 gene ({611177}); SRTD3 ({613091}), caused by mutation in the DYNC2H1 gene ({603297}); SRTD4 ({613819}), caused by mutation in the TTC21B gene ({612014}); SRTD5 ({614376}), caused by mutation in the WDR19 gene ({608151}); SRTD6 ({263520}), caused by mutation in the NEK1 gene ({604588}); SRTD7 ({614091}), caused by mutation in the WDR35 gene ({613602}); SRTD8 ({615503}), caused by mutation in the WDR60 gene ({615462}); SRTD9 ({266920}), caused by mutation in the IFT140 gene ({614620}); SRTD10 ({615630}), caused by mutation in the IFT172 gene ({607386}); SRTD11 ({615633}), caused by mutation in the WDR34 gene ({613363}); SRTD13 ({616300}), caused by mutation in the CEP120 gene ({613446}); SRTD14 ({616546}), caused by mutation in the KIAA0586 gene ({610178}); SRTD15 ({617088}), caused by mutation in the DYNC2LI1 gene ({617083}); SRTD16 ({617102}), caused by mutation in the IFT52 gene ({617094}); SRTD17 ({617405}), caused by mutation in the TCTEX1D2 gene ({617353}); SRTD18 ({617866}), caused by mutation in the IFT43 gene ({614068}); SRTD19 ({617895}), caused by mutation in the IFT81 gene ({605489}); SRTD20 ({617925}), caused by mutation in the INTU gene ({610621}); and SRTD21 ({619479}), caused by mutation in the KIAA0753 gene ({617112}).\n\nSee also SRTD12 (Beemer-Langer syndrome; {269860}).",[208500],[474],[Jeune syndrome],[3049],,,,, +GARD:15141,Active,Orphanet+OMIM,OMIM:208910,Subtype of disorder,[Disease subtype],Ataxia-telangiectasia with generalized skin pigmentation and early death,,"{1:Tsukahara et al. (1986)} described 2 Japanese sisters with ataxia-telangiectasia that had typical clinical and laboratory features except for marked generalized skin pigmentation and unusually early death (at 15 months in the first born). Skin pigmentation was already present at 3 months of age in the first born and appeared at 7 months in the second affected child. Autopsy of the older child provided no obvious explanation for the hyperpigmentation. The anterior pituitary was described as containing 'occasional cells with large hyperchromic, bizarre or doughnut-shaped nuclei.'",[208910],[100],[Ataxia-telangiectasia],[5862],,,,, +GARD:15142,Active,Orphanet+OMIM,OMIM:210400,Subtype of disorder,[Malformation syndrome subtype],"Bifid nose, autosomal recessive","[nose, median cleft of, Median fissure of nose]",,[210400],[2695],[Bifid nose],[884],,,,, +GARD:15143,Active,Orphanet+OMIM,OMIM:210600,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 1,"[bird-headed dwarfism, nanocephalic dwarfism, seckel-type dwarfism, microcephalic primordial dwarfism i, Sckl]","Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance ({19:Shanske et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Seckel Syndrome\n\nOther forms of Seckel syndrome include SCKL2 ({606744}), caused by mutation in the RBBP8 gene ({604124}) on chromosome 18q11; SCKL4 ({613676}), caused by mutation in the CENPJ gene ({609279}) on chromosome 13q12; SCKL5 ({613823}), caused by mutation in the CEP152 gene ({613529}) on chromosome 15q21; SCKL6 ({614728}), caused by mutation in the CEP63 gene ({614724}) on chromosome 3q22; SCKL7 ({614851}), caused by mutation in the NIN gene ({608684}) on chromosome 14q22; SCKL8 ({615807}), caused by mutation in the DNA2 gene ({601810}) on chromosome 10q21; SCKL9 ({616777}), caused by mutation in the TRAIP gene ({605958}) on chromosome 3p21; and SCKL10 ({617253}), caused by mutation in the NSMCE2 gene ({617246}) on chromosome 8q24.\n\nThe report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by {10:Kilinc et al. (2003)} was found to be in error; see History section.",[210600],[808],[Seckel syndrome],[8562],,,,, +GARD:15144,Active,Orphanet+OMIM,OMIM:210710,Subtype of disorder,[Malformation syndrome subtype],"Microcephalic osteodysplastic primordial dwarfism, type i","[brachymelic primordial dwarfism, low-birth-weight dwarfism with skeletal dysplasia, taybi-linder syndrome, osteodysplastic primordial dwarfism, type i, cephaloskeletal dysplasia, Mopd i]","Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by {17:Pierce and Morse, 2012}).",[210710],[2636],[Microcephalic osteodysplastic primordial dwarfism types I and III],[5120],,,,, +GARD:15145,Active,Orphanet+OMIM,OMIM:210730,Subtype of disorder,[Malformation syndrome subtype],"Microcephalic osteodysplastic primordial dwarfism, type iii","[mopd, sicilian fairy type, osteodysplastic primordial dwarfism, type iii, mopd, caroline crachami type, microcephalic osteodysplastic primordial dwarfism, caroline crachami type, microcephalic osteodysplastic primordial dwarfism, sicilian fairy type, Mopd iii]",,[210730],[2636],[Microcephalic osteodysplastic primordial dwarfism types I and III],[5120],,,,, +GARD:15146,Active,Orphanet+OMIM,OMIM:211900,Subtype of disorder,[Clinical subtype],"Tumoral calcinosis, hyperphosphatemic, familial, 1","[Tumoral calcinosis, hyperphosphatemic, familial, lipocalcinogranulomatosis, tumoral calcinosis, primary hyperphosphatemic, teutschlaender disease, familial, cortical hyperostosis with hyperphosphatemia, morbus teutschlaender, calcinosis, tumoral, with hyperphosphatemia, hyperostosis-hyperphosphatemia syndrome, hyperostosis with hyperphosphatemia]","Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone ({9:Chefetz et al., 2005}). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 ({605380}) or GALNT3 gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement ({15:Frishberg et al., 2005}), {23:Ichikawa et al. (2010)} concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.\n\nHFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; {193100}), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption ({9:Chefetz et al., 2005}; {26:Ichikawa et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Hyperphosphatemic Familial Tumoral Calcinosis\n\nAlso see HFTC2 ({617993}), caused by mutation in the FGF23 gene ({605380}) on chromosome 12p13, and HFTC3 ({617994}), caused by mutation in the KL gene ({604824}) on chromosome 13q13. Most cases are caused by mutation in the GALNT3 gene.",[211900],[306661],[Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome],[10879],,,,, +GARD:15148,Active,Orphanet+OMIM,OMIM:212080,Subtype of disorder,[Disease subtype],"Cardiac lipidosis, familial",,,[212080],[137675],[Histiocytoid cardiomyopathy],[9511],,,,, +GARD:15149,Active,Orphanet+OMIM,OMIM:214110,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 2a (zellweger),,"The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.",[214110],[912],[Zellweger syndrome],[7917],,,,, +GARD:1515,Active,Orphanet,ORPHA:1484,Disorder,[Malformation syndrome],Contractures-ectodermal dysplasia-cleft lip/palate syndrome,[Ladda-Zonana-Ramer syndrome],"A rare ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.",[301815],,,,,"Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay",TRUE,FALSE,Active +GARD:15150,Active,Orphanet+OMIM,OMIM:214150,Subtype of disorder,[Clinical subtype],Cerebrooculofacioskeletal syndrome 1,"[pena-shokeir syndrome, type ii, Cofs syndrome]","Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by {4:Jaakkola et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Cerebrooculofacioskeletal Syndrome\n\nSee also COFS2 ({610756}), caused by mutation in the ERCC2 gene ({126340}); COFS3 ({616570}), caused by mutation in the ERCC5 gene ({133530}); and COFS4 ({610758}), caused by mutation in the ERCC1 gene ({126380}).",[214150],[1466],[COFS syndrome],[6027],,,,, +GARD:15151,Active,Orphanet+OMIM,OMIM:214300,Subtype of disorder,[Malformation syndrome subtype],"Klippel-feil syndrome 2, autosomal recessive","[Kfs, autosomal recessive, cervical vertebral fusion, autosomal recessive]","Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ({12:Tracy et al., 2004}).\n\n{3:Clarke et al. (1998)} proposed a classification system for KFS in which an autosomal recessive form is characterized by the most rostral fusion at C1 and the presence of severe associated anomalies, including short neck, cardiac defects, and craniofacial anomalies.\n\nFor a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 ({118100}).",[214300],[2345],[Isolated Klippel-Feil syndrome],[10280],,,,, +GARD:15152,Active,Orphanet+OMIM,OMIM:215450,Subtype of disorder,[Disease subtype],"Chorea, benign familial",,"Both a dominant (see {118700}) and a recessive form may exist. {3:Nutting et al. (1969)} described 3 affected sibs out of 5 with phenotypically normal, nonconsanguineous parents. {1:Chun et al. (1973)} described 4 affected sibs out of 7, again with normal, unrelated parents. Reduced penetrance in 1 parent is possible. {2:Damasio et al. (1977)} described the disorder in a brother and sister with normal parents.",[215450],[1429],[Benign hereditary chorea],[1305],,,,, +GARD:15153,Active,Orphanet+OMIM,OMIM:216360,Subtype of disorder,[Disease subtype],Coach syndrome 1,"[cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis, Coach syndrome, joubert syndrome with congenital hepatic fibrosis]","COACH syndrome is an autosomal recessive disorder characterized by impaired intellectual development, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; see {213300}) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding ({1:Brancati et al., 2009}; {3:Doherty et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of COACH Syndrome\n\nAlso see COACH syndrome-2 (COACH2; {619111}), caused by mutation in in the CC2D2A gene ({612013}), and COACH syndrome-3 (COACH3; {619113}), caused by mutation in the RPGRIP1L gene ({610937}).\n\nMost cases of COACH syndrome are caused by mutation in the TMEM67 gene.",[216360],[1454],[Joubert syndrome with hepatic defect],[1410],,,,, +GARD:15154,Active,Orphanet+OMIM,OMIM:216400,Subtype of disorder,[Clinical subtype],Cockayne syndrome a,,"Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection ({36:Nance and Berry, 1992}).\n\n{26:Lowry (1982)} noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. {26:Lowry (1982)} thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. {29:Mallery et al. (1998)} found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment.\n\n<Subhead> Genetic Heterogeneity of Cockayne Syndrome\n\nCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B ({133540}), caused by mutation in the ERCC6 gene ({609413}) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene ({133530}) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene ({133510}) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene ({133520}) on chromosome 16p13.\n\n{48:Rapin et al. (2000)} reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.",[216400],"[90321, 90322, 90324]","[Cockayne syndrome type 2, Cockayne syndrome type 1, Cockayne syndrome type 3]","[1417, 1415, 1420]",,,,, +GARD:15155,Active,Orphanet+OMIM,OMIM:216950,Subtype of disorder,[Disease subtype],Complement component c1r/c1s deficiency,[C1r/c1s deficiency],,[216950],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,,,, +GARD:15156,Active,Orphanet+OMIM,OMIM:218300,Subtype of disorder,[Malformation syndrome subtype],Craniodiaphyseal dysplasia,,,[218300],[1513],[Craniodiaphyseal dysplasia],[1567],,,,, +GARD:15157,Active,Orphanet+OMIM,OMIM:219100,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal recessive, type ia","[cutis laxa, autosomal recessive, Arcl1]","Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classical Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by {11:Davidson and Giro, 2002}).\n\nThe clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa (ARCL1) is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. Diminution of elastic fibers throughout the dermis and abnormal elastin components by electron microscopy are pathognomonic (summary by {24:Morava et al., 2009}).\n\nClassification of autosomal recessive cutis laxa is further divided into type II (ARCL2), associated with bone dystrophy, joint laxity, and developmental delay; and type III (ARCL3), or de Barsy syndrome, which presents very severe symptoms, with ocular involvement and mental retardation (summary by {11:Davidson and Giro, 2002}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see {123700}.\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Cutis Laxa\n\nAlso see ARCL1B ({614437}), caused by mutation in the FBLN4 gene (EFEMP2; {604633}), and ARCL1C ({613177}), caused by mutation in the LTBP4 gene (FAM72A; {614710}).\n\nARCL2A ({219200}) is caused by mutation in the ATP6V0A2 gene ({611716}). ARCL2B ({612940}) is caused by mutation in the PYCR1 gene ({179035}). ARCL2C ({617402}) is caused by mutation in the ATP6V1E1 gene ({108746}). ARCL2D ({617403}) is caused by mutation in the ATP6V1A gene ({607027}). ARCL2E ({619451}) is caused by mutation in the LTBP1 gene ({150390}).\n\nARCL3A ({219150}) is caused by mutation in the ALDH18A1 gene ({138250}). ARCL3B ({614438}) is caused by mutation in the PYCR1 gene ({179035}).",[219100],[90349],[Autosomal recessive cutis laxa type 1],[8480],,,,, +GARD:15158,Active,Orphanet+OMIM,OMIM:220110,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 1","[Mitochondrial complex iv deficiency, cytochrome c oxidase deficiency, cox deficiency]","Mitochondrial complex IV deficiency nuclear type 1 (MC4DN1) is an autosomal recessive metabolic disorder characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills between about 5 and 18 months of age after normal early development. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, and poor eye contact. Other features may include oculomotor abnormalities, including slow saccades, strabismus, ophthalmoplegia, and nystagmus, as well as deafness, apneic episodes, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Some patients may also have abnormalities in the brainstem and cerebellum. Laboratory studies usually show increased serum and CSF lactate and decreased levels and activity of mitochondrial respiratory complex IV in patient tissues. There is phenotypic variability, but death in childhood, often due to central respiratory failure, is common (summary by {32:Tiranti et al., 1998}; {33:Tiranti et al., 1999}; {31:Teraoka et al., 1999}; {22:Poyau et al., 2000})\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex IV Deficiency\n\nMost isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare ({30:Shoubridge, 2001}; {26:Sacconi et al., 2003}).\n\nMitochondrial complex IV deficiency caused by mutation in nuclear-encoded genes, in addition to MC4DN1, include MC4DN2 ({604377}), caused by mutation in the SCO2 gene ({604272}); MC4DN3 ({619046}), caused by mutation in the COX10 gene ({602125}); MC4DN4 ({619048}), caused by mutation in the SCO1 gene ({603664}); MC4DN5 ({220111}), caused by mutation in the LRPPRC gene ({607544}); MC4DN6 ({615119}), caused by mutation in the COX15 gene ({603646}); MC4DN7 ({619051}), caused by mutation in the COX6B1 gene ({124089}); MC4DN8 ({619052}), caused by mutation in the TACO1 gene ({612958}); MC4DN9 ({616500}), caused by mutation in the COA5 gene ({613920}); MC4DN10 ({619053}), caused by mutation in the COX14 gene ({614478}); MC4DN11 ({619054}), caused by mutation in the COX20 gene ({614698}); MC4DN12 ({619055}), caused by mutation in the PET100 gene ({614770}); MC4DN13 ({616501}), caused by mutation in the COA6 gene ({614772}); MC4DN14 ({619058}), caused by mutation in the COA3 gene ({614775}); MC4DN15 ({619059}), caused by mutation in the COX8A gene ({123870}); MC4DN16 ({619060}), caused by mutation in the COX4I1 gene ({123864}); MC4DN17 ({619061}), caused by mutation in the APOPT1 gene ({616003}); MC4DN18 ({619062}), caused by mutation in the COX6A2 gene ({602009}); MC4DN19 ({619063}), caused by mutation in the PET117 gene ({614771}); MC4DN20 ({619064}), caused by mutation in the COX5A gene ({603773}); and MC4DN21 ({619065}), caused by mutation in the COXFA4 gene ({603883}).\n\nMitochondrial complex IV deficiency has been associated with mutations in several mitochondrial genes, including MTCO1 ({516030}), MTCO2 ({516040}), MTCO3 ({516050}), MTTS1 ({590080}), MTTL1 ({590050}), and MTTN ({590010}).",[220110],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:15159,Active,Orphanet+OMIM,OMIM:220111,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 5","[Cytochrome c oxidase deficiency, french canadian type, cox deficiency, french canadian type, cox deficiency, saguenay-lac-saint-jean type, leigh syndrome, french canadian type, leigh syndrome, saguenay-lac-saint-jean type]","Mitochondrial complex IV deficiency nuclear type 5 (MC4DN5) is an autosomal recessive severe metabolic multisystemic disorder with onset in infancy. Features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. There is increased serum lactate and episodic hypoglycemia. Some patients may have cardiomyopathy, abnormal breathing, or liver abnormalities, reflecting systemic involvement. Brain imaging shows lesions in the brainstem and basal ganglia, consistent with a diagnosis of Leigh syndrome (see {256000}). Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by {2:Debray et al., 2011}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[220111],[70472],"[Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type]",[8370],,,,, +GARD:1516,Active,Orphanet,ORPHA:1662,Disorder,[Disease],Restrictive dermopathy,"[Lethal hyperkeratosis-contracture syndrome, Lethal restrictive dermopathy, Lethal tight skin-contracture syndrome]","A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.",[275210],,,,,"Tight skin contracture syndrome, lethal",TRUE,FALSE,Active +GARD:15160,Active,Orphanet+OMIM,OMIM:220210,Subtype of disorder,[Malformation syndrome subtype],Ritscher-schinzel syndrome 1,"[3c syndrome, dandy-walker-like malformation with atrioventricular septal defect, Craniocerebellocardiac dysplasia]","The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have delayed psychomotor development (summary by {10:Leonardi et al., 2001}; {4:Elliott et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Ritscher-Schinzel Syndrome\n\nSee also RTSC2 ({300963}), caused by mutation in the CCDC22 gene ({300859}) on chromosome Xp11; RTSC3 ({619135}), caused by mutation in the VPS35L gene ({618981}) on chromosome 16p12; and RTSC4 ({619435}), caused by mutation in the DPYSL5 gene ({608383}) on chromosome 2p23.",[220210],[7],[3C syndrome],[5666],,,,, +GARD:15161,Active,Orphanet+OMIM,OMIM:222400,Subtype of disorder,[Morphological anomaly subtype],Diaphragmatic hernia 2,,"For a general phenotypic description and a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 ({142340}).",[222400],[2140],[Congenital diaphragmatic hernia],[1481],,,,, +GARD:15162,Active,Orphanet+OMIM,OMIM:224690,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 1,"[Ear, patella, short stature syndrome, meier-gorlin syndrome, microtia, absent patellae, micrognathia syndrome]","The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by {16:Shalev and Hall, 2003}). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal ({1:Bicknell et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Meier-Gorlin Syndrome\n\nMost forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 ({613800}), caused by mutation in the ORC4 gene ({603056}) on chromosome 2q23; Meier-Gorlin syndrome-3 ({613803}), caused by mutation in the ORC6 gene ({607213}) on chromosome 16q11; Meier-Gorlin syndrome-4 ({613804}), caused by mutation in the CDT1 gene ({605525}) on chromosome 16q24; Meier-Gorlin syndrome-5 ({613805}), caused by mutation in the CDC6 gene ({602627}) on chromosome 17q21; Meier-Gorlin syndrome-7 ({617063}), caused by mutation in the CDC45L gene ({603465}) on chromosome 22q11; and Meier-Gorlin syndrome-8 ({617564}), caused by mutation in the MCM5 gene ({602696}) on chromosome 22q12.\n\nAn autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 ({616835}), is caused by mutation in the GMNN gene ({602842}) on chromosome 6p22.",[224690],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15163,Active,Orphanet+OMIM,OMIM:224900,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive","[Ectodermal dysplasia, hypohidrotic, ectodermal dysplasia, anhidrotic]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {1:Cluzeau et al., 2011}).",[224900],[248],[Autosomal recessive hypohidrotic ectodermal dysplasia],[2057],,,,, +GARD:15164,Active,Orphanet+OMIM,OMIM:225200,Subtype of disorder,[Malformation syndrome subtype],Ectopia lentis et pupillae,[Ectopia lentis with ectopia of pupil],"Ectopia lentis et pupillae is a congenital hereditary disorder in which there is displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions (summary by {5:Cruysberg and Pinckers, 1995}). Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disc, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy (summary by {3:Christensen et al., 2010}).",[225200],[1885],[Isolated ectopia lentis],[12251],,,,, +GARD:15165,Active,Orphanet+OMIM,OMIM:225250,Subtype of disorder,[Morphological anomaly subtype],"Hypothyroidism, congenital, nongoitrous, 5",,,[225250],"[95720, 95712, 95713]","[Thyroid ectopia, Thyroid hypoplasia, Athyreosis]","[8426, 16841, 16842]",,,,, +GARD:15166,Active,Orphanet+OMIM,OMIM:225300,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 6,"[Ectrodactyly, autosomal recessive]","Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting ({2:Elliott and Evans, 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 ({183600}).",[225300],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15167,Active,Orphanet+OMIM,OMIM:225750,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 1,"[encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis, cree encephalitis, pseudotoxoplasmosis syndrome, Ags]","Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1; {147660}), and negative serologic investigations for common prenatal infections ({5:Ali et al., 2006}). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process ({9:Crow et al., 2006}).\n\nIn a review of AGS, {26:Stephenson (2008)} noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.\n\nCree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome ({251290}), which shows phenotypic overlap and may in some cases represent AGS ({10:Crow et al., 2000}; {8:Crow et al., 2003}). AGS is distinct from the similarly named Aicardi syndrome ({304050}), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities.\n\n<Subhead> Genetic Heterogeneity of Aicardi-Goutieres Syndrome\n\nSee also AGS2 ({610181}), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B; {610326}) on chromosome 13q14; AGS3 ({610329}), caused by mutation in the RNASEH2C gene ({610330}) on chromosome 11q13; AGS4 ({610333}), caused by mutation in the RNASEH2A gene ({606034}) on chromosome 19p13; AGS5 ({612952}), caused by mutation in the SAMHD1 gene ({606754}) on chromosome 20q11; AGS6 ({615010}), caused by mutation in the ADAR1 gene ({146920}) on chromosome 1q21; AGS7 ({615846}), caused by mutation in the IFIH1 gene ({606951}) on chromosome 2q24; AGS8 ({619486}), caused by mutation in the LSM11 gene ({617910}) on chromosome 5q33; and AGS9 ({619487}), caused by mutation in the RNU7-1 gene ({617876}) on chromosome 12p13.",[225750],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:15168,Active,Orphanet+OMIM,OMIM:227645,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group c","[fanconi pancytopenia, type 3, Facc]","Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[227645],[84],[Fanconi anemia],[6425],,,,, +GARD:15169,Active,Orphanet+OMIM,OMIM:227646,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group d2","[fanconi anemia, complementation group d, Fad2, fanconi pancytopenia, type 4]","Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[227646],[84],[Fanconi anemia],[6425],,,,, +GARD:15170,Active,Orphanet+OMIM,OMIM:227650,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group a",[Fanconi anemia],"Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {29:Deakyne and Mazin, 2011}).\n\n{116:Soulier et al. (2005)} noted that the FANCA, -C, -E, -F, -G, and -L proteins are part of a nuclear multiprotein core complex which triggers activating monoubiquitination of the FANCD2 protein during S phase of the growth cycle and after exposure to DNA crosslinking agents. The FA/BRCA pathway is involved in the repair of DNA damage.\n\nSome cases of Fanconi anemia have presented with a VACTERL ({192350}) or VACTERL-H ({276950}, {314390}) phenotype. In a group of 27 patients with Fanconi anemia group D1 ({605724}) due to biallelic mutations in the BRCA2 gene ({600185}), {2:Alter et al. (2007)} found that 5 patients had 3 or more VATER association anomalies and 1 was diagnosed with VACTERL-H. A VATER phenotype has also been reported in Fanconi anemia of complementation groups A, C ({227645}), E ({600901}), F ({603467}), and G ({602956}); VACTERL-H has also been described in patients with FANCB ({300515}) mutations ({73:McCauley et al., 2011}). {98:Savage et al. (2015)} added patients with FANCI ({609053}) to this list and stated that patients with FANCD2 ({227646}) and FANCL ({614083}) had also been reported to have features of VACTERL association.\n\n<Subhead> Genetic Heterogeneity of Fanconi Anemia\n\nOther Fanconi anemia complementation groups include FANCB ({300514}), caused by mutation in the FANCB ({300515}) on chromosome Xp22; FANCC ({227645}), caused by mutation in the FANCC ({613899}) on chromosome 9q22; FANCD1 ({605724}), caused by mutation in the BRCA2 ({600185}) on chromosome 13q12; FANCD2 ({227646}), caused by mutation in the FANCD2 gene ({613984}) on chromosome 3p25; FANCE ({600901}), caused by mutation in the FANCE gene ({613976}) on chromosome 6p21; FANCF ({603467}), caused by mutation in the FANCF gene ({613897}) on chromosome 11p15; FANCG ({614082}), caused by mutation in the XRCC9 gene (FANCG; {602956}) on chromosome 9p13; FANCI ({609053}), caused by mutation in the FANCI gene ({611360}) on chromosome 15q26; FANCJ ({609054}), caused by mutation in the BRIP1 gene ({605882}) on chromosome 17q22; FANCL ({614083}), caused by mutation in the PHF9 gene (FANCL; {608111}) on chromosome 2p16; FANCN ({610832}), caused by mutation in the PALB2 gene ({610355}) on chromosome 16p12; FANCO ({613390}), caused by mutation in the RAD51C ({602774}) on chromosome 17q22; FANCP ({613951}), caused by mutation in the SLX4 gene ({613278}) on chromosome 16p13; FANCQ ({615272}), caused by mutation in the ERCC4 gene ({133520}) on chromosome 16p13; FANCR ({617244}), caused by mutation in the RAD51 gene ({179617}) on chromosome 15q15; FANCS ({617883}), caused by mutation in the BRCA1 gene ({113705}) on chromosome 17q21; FANCT ({616435}), caused by mutation in the UBE2T gene ({610538}) on chromosome 1q31; FANCU ({617247}), caused by mutation in the XRCC2 gene ({600375}) on chromosome 7q36; FANCV ({617243}), caused by mutation in the MAD2L2 gene ({604094}) on chromosome 1p36; and FANCW ({617784}), caused by mutation in the RFWD3 gene ({614151}) on chromosome 16q23.\n\nThe previously designated FANCH complementation group ({60:Joenje et al., 1997}) was found by {59:Joenje et al. (2000)} to be the same as FANCA.\n\nA patient originally reported to have Fanconi anemia of complementation group M (FANCM) due to mutation in the FAAP250 gene ({609644}) by {75:Meetei et al. (2005)} was subsequently found by {115:Singh et al. (2009)} to have FANCA.",[227650],[84],[Fanconi anemia],[6425],,,,, +GARD:15171,Active,Orphanet+OMIM,OMIM:228020,Subtype of disorder,[Disease subtype],"Fascial dystrophy, congenital",,"{2:Jablonska et al. (1989)} described 4 patients with stony-hard induration of the skin and deeper tissues, most pronounced on the buttocks, thighs, and legs, and with limitation of joint mobility and contractures of the lower limbs. Two of the patients were sibs and one was the product of a consanguineous marriage, suggesting autosomal recessive inheritance. The disorder was noted in early infancy and was not progressive. Except for functional impairment of the lungs caused by an underdeveloped thorax that resulted from pressure of the thickened thoracic fascia, there was no involvement of viscera or muscles and no immunologic abnormalities. The most important laboratory finding was markedly thickened fascia. {2:Jablonska et al. (1989)} suggested that this was the human model of the 'tight-skin' mouse (Tsk) as described by {1:Green et al. (1976)}. Except for apparent autosomal recessive inheritance, the condition appears to be the same as that labeled stiff skin syndrome ({184900}).",[228020],[2833],[Stiff skin syndrome],[5025],,,,, +GARD:15172,Active,Orphanet+OMIM,OMIM:231050,Subtype of disorder,[Malformation syndrome subtype],Geleophysic dysplasia 1,,"Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues (summary by {4:Le Goff et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Geleophysic Dysplasia\n\nGeleophysic dysplasia-2 (GPHYSD2; {614185}) is an autosomal dominant form of the disorder caused by heterozygous mutation in the FBN1 gene ({134797}) on chromosome 15q21.1. Acromicric dysplasia ({102370}) and the autosomal dominant form of Weill-Marchesani syndrome ({608328}) are allelic to geleophysic dysplasia-2 and share overlapping skeletal and joint features.\n\nGeleophysic dysplasia-3 (GPHYSD3; {617809}) is caused by heterozygous mutation in the LTBP3 gene ({602090}) on chromosome 11q13.",[231050],[2623],[Geleophysic dysplasia],[2449],,,,, +GARD:15173,Active,Orphanet+OMIM,OMIM:232240,Subtype of disorder,[Clinical subtype],Glycogen storage disease ic,[Gsd ic],,[232240],[79259],[Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib],[2515],,,,, +GARD:15174,Active,Orphanet+OMIM,OMIM:233420,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 7","[46,xy gonadal dysgenesis, partial or complete, dhh-related, gonadal dysgenesis, xy, male-limited, 46,xy sex reversal, partial or complete, dhh-related]",,[233420],[242],"[46,XY complete gonadal dysgenesis]",[5068],,,,, +GARD:15175,Active,Orphanet+OMIM,OMIM:233690,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 4","[cyba deficiency, cgd due to deficiency of the alpha subunit of cytochrome b, cgd, autosomal recessive cytochrome b-negative, Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative]",Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.',[233690],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15176,Active,Orphanet+OMIM,OMIM:233700,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 1","[soluble oxidase component ii deficiency, Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i, neutrophil cytosol factor 1 deficiency, granulomatous disease, chronic, due to ncf1 deficiency, cgd, autosomal recessive cytochrome b-positive, type i, ncf1 deficiency, soc2 deficiency, p47-phox deficiency]",,[233700],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15177,Active,Orphanet+OMIM,OMIM:233710,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 2","[Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii, ncf2 deficiency, granulomatous disease, chronic, due to ncf2 deficiency, neutrophil cytosol factor 2 deficiency, p67-phox deficiency, cgd, autosomal recessive cytochrome b-positive, type ii]",,[233710],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15179,Active,Orphanet+OMIM,OMIM:235370,Subtype of disorder,[Disease subtype],Hemolytic anemia with thermal sensitivity of red cells,,"Heat-treated red cells undergo fragmentation and microspherocyte transformation in vitro. The same process occurs in vivo in severely burned persons. {2:Zarkowsky et al. (1975)} observed red cell morphology similar to that of the hemolytic anemia of burns in 3 children with congenital hemolytic anemia and demonstrated temperature-induced changes in the morphology and membrane composition of red cells. Two of the 3 patients were sibs. The parents of these 2 sibs showed normal red cell morphology and thermal sensitivity. Curiously, the sex of the patients was not stated. (See {1:Wiley and Gill (1976)} for another example of a presumed genetic, red cell membrane defect.)",[235370],[288],[Hereditary elliptocytosis],[6621],,,,, +GARD:1518,Active,Orphanet,ORPHA:140927,Disorder,[Disease],Benign familial neonatal-infantile seizures,"[BFNIS, Benign neonatal-infantile epilepsy]","Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.",[607745],,,,,Benign familial neonatal-infantile seizures,TRUE,FALSE,Active +GARD:15180,Active,Orphanet+OMIM,OMIM:235500,Subtype of disorder,[Disease subtype],"Hemosiderosis, pulmonary, with deficiency of gamma-a globulin",,Idiopathic pulmonary hemosiderosis has not been shown to be familial. That a generalized dysfunction of the macrophages system may be involved in some cases and that the defect may be genetically determined is suggested by the finding in some cases of deficiency of gamma-A globulin and of histologic alterations in the lymphoreticular organs compatible with an immune deficiency disorder.,[235500],[99931],[Idiopathic pulmonary hemosiderosis],[6763],,,,, +GARD:15181,Active,Orphanet+OMIM,OMIM:235510,Subtype of disorder,[Malformation syndrome subtype],Hennekam lymphangiectasia-lymphedema syndrome 1,"[Hennekam lymphangiectasia-lymphedema syndrome, lymphatic dysplasia, generalized]","Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by {2:Alders et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome\n\nSee also HKLLS2 ({616006}), caused by mutation in the FAT4 gene ({612411}) on chromosome 4q28, and HKLLS3 ({618154}), caused by mutation in the ADAMTS3 gene ({605011}) on chromosome 4q13.",[235510],[2136],[Hennekam syndrome],[3318],,,,, +GARD:15182,Active,Orphanet+OMIM,OMIM:236680,Subtype of disorder,[Malformation syndrome subtype],Hydrolethalus syndrome 1,,,[236680],[2189],[Hydrolethalus],[6683],,,,, +GARD:15183,Active,Orphanet+OMIM,OMIM:238710,Subtype of disorder,[Disease subtype],Hyperlysinemia due to defect in lysine transport into mitochondria,,{1:Oyanagi et al. (1986)} described 2 sibs with hyperlysinemia and mental retardation in whom the enzyme activities of lysine-alpha-ketoglutarate reductase ({238700}) and saccharopine dehydrogenase ({268700}) in liver were normal. Studies on lysine oxidation in cultured skin fibroblasts suggested that the hyperlysinemia in these patients was due to a defect of transport of lysine into mitochondria.,[238710],[2203],[Hyperlysinemia],[2828],,,,, +GARD:15184,Active,Orphanet+OMIM,OMIM:240500,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 2","[Antibody deficiency due to taci defect, hypogammaglobulinemia due to taci deficiency]",,[240500],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15185,Active,Orphanet+OMIM,OMIM:241600,Subtype of disorder,[Disease subtype],Immunodeficiency 43,"[hypoproteinemia, hypercatabolic, b2m deficiency, Beta-2-microglobulin deficiency]",,[241600],[34592],[Immunodeficiency by defective expression of MHC class I],[8427],,,,, +GARD:15186,Active,Orphanet+OMIM,OMIM:242050,Subtype of disorder,[Malformation syndrome subtype],"Hypouricemia, hypercalcinuria, and decreased bone density",,"{1:Sperling et al. (1974)} described this combination. Renal clearance of uric acid was greatly increased. Two brothers and a sister were affected, together with 2 grandchildren, products of a first-cousin marriage of obligatory heterozygotes. Hypouricemia occurs with xanthine oxidase deficiency ({278300}), Wilson disease ({277900}), and Fanconi renotubular syndrome ({134600}) and as a primary renal hypouricemia ({220150}).",[242050],[94088],[Hereditary renal hypouricemia],[9496],,,,, +GARD:15187,Active,Orphanet+OMIM,OMIM:242100,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 2","[Collodion baby, self-healing, ichthyosiform erythroderma, nonbullous congenital, 1, formerly, ichthyosiform erythroderma, brocq congenital, nonbullous form, formerly]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({10:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {8:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[242100],"[281122, 79394]","[Self-improving collodion baby, Congenital non-bullous ichthyosiform erythroderma]","[9736, 17303]",,,,, +GARD:15188,Active,Orphanet+OMIM,OMIM:242860,Subtype of disorder,[Malformation syndrome subtype],Immunodeficiency-centromeric instability-facial anomalies syndrome 1,"[Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16, centromeric instability, immunodeficiency syndrome, immunodeficiency syndrome, variable]","Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients that is explained by mutations in the DNMT3B gene in some, but not all, ICF patients ({11:Hagleitner et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome\n\nSee also ICF2 ({614069}), caused by mutation in the ZBTB24 gene ({614064}) on chromosome 6q21; ICF3 ({616910}), caused by mutation in the CDCA7 gene ({609937}) on chromosome 2q31; and ICF4 ({616911}), caused by mutation in the HELLS gene ({603946}) on chromosome 10q23.",[242860],[2268],[ICF syndrome],[2945],,,,, +GARD:15189,Active,Orphanet+OMIM,OMIM:243310,Subtype of disorder,[Malformation syndrome subtype],Baraitser-winter syndrome 1,"[pachygyria, mental retardation, epilepsy, and characteristic facies, mental retardation with epilepsy and characteristic facies, fryns-aftimos syndrome, cerebrofrontofacial syndrome, chromosome 7p22 deletion syndrome, cerebrooculofacial lymphatic syndrome, Iris coloboma with ptosis, hypertelorism, and mental retardation]","BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by {21:Verloes et al., 2015}). {5:Di Donato et al. (2014)} and {21:Verloes et al. (2015)} suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by {3:Cuvertino et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Baraitser-Winter Syndrome\n\nBaraitser-Winter syndrome-2 (BRWS2; {614583}) is caused by heterozygous mutation in the ACTG1 gene ({102560}) on chromosome 17q25.",[243310],[2995],[Baraitser-Winter cerebrofrontofacial syndrome],[5279],,,,, +GARD:1519,Active,Orphanet,ORPHA:1949,Disorder,[Disease],Benign familial neonatal epilepsy,"[BFNS, Benign familial neonatal convulsions, Benign familial neonatal seizures]",Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.,"[121201, 121200, 269720, 608217]",,,,,Convulsions benign familial neonatal dominant form,TRUE,FALSE,Active +GARD:15190,Active,Orphanet+OMIM,OMIM:243320,Subtype of disorder,[Disease subtype],"Intrinsic factor and r binder, combined congenital deficiency of",,"In the 14.5-year-old son of a first-cousin Algerian couple, {1:Zittoun et al. (1988)} identified deficiency of both intrinsic factor and R binder. Separate deficiencies are well described (see {261000} and {193090}, respectively). The boy presented with severe megaloblastic anemia, growth retardation, and neurologic dysfunction with typical features of subacute combined degeneration of the spinal cord. The anemia responded completely to cyanocobalamin and folic acid. Intrinsic factor was absent from gastric juice, but acid secretion and gastric mucosa were normal. R binders were absent from gastric juice as well as from serum, saliva, and polymorphonuclear leukocytes.",[243320],[332],[Congenital intrinsic factor deficiency],[3024],,,,, +GARD:15191,Active,Orphanet+OMIM,OMIM:245300,Subtype of disorder,[Disease subtype],"Kuru, susceptibility to",,"Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by {16:Wadsworth et al., 2008}).",[245300],[454745],[Kuru],[7617],,,,, +GARD:15192,Active,Orphanet+OMIM,OMIM:246300,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 3",,,[246300],[548],[Leprosy],[6886],,,,, +GARD:15193,Active,Orphanet+OMIM,OMIM:246560,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 3,,"Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM3 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting ({6:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 ({183600}).",[246560],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15194,Active,Orphanet+OMIM,OMIM:247650,Subtype of disorder,[Disease subtype],Lymphokine deficiency,,"Chronic mucocutaneous candidiasis can have many causes, e.g., (1) failure of lymphocytes to transform in response to antigen, either because of an intrinsic defect ({247450}) or because of an inhibiting serum factor ({247430}); (2) failure of production of lymphokine; or (3) unresponsiveness of monocytes to lymphokine ({252250}). Deficient production of lymphokine despite normal lymphoblastic transformation was demonstrated by {1:Lehner et al. (1972)}.",[247650],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15195,Active,Orphanet+OMIM,OMIM:249210,Subtype of disorder,[Malformation syndrome subtype],Megacystis-microcolon-intestinal hypoperistalsis syndrome 1,"[berdon syndrome, Megacystis-microcolon-intestinal hypoperistalsis syndrome]","Megacystis-microcolon-intestinal hypoperistalsis syndrome-1 (MMIHS1) is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. A distended bladder (megacystis) may be detected on prenatal ultrasound. Intestinal malrotation has also been observed (summary by {6:Halim et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome\n\nSee MMIHS2 ({619351}), caused by mutation in the MYH11 gene ({160745}) on chromosome 16p13; MMIHS3 ({619362}), caused by mutation in the LMOD1 gene ({602715}) on chromosome 1q32; MMIHS4 ({619365}), caused by mutation in the MYL9 gene ({609905}) on chromosome 20q11; and MMIHS5 ({619431}), caused by mutation in the ACTG2 gene ({102545}) on chromosome 2p13.",[249210],[2241],[Megacystis-microcolon-intestinal hypoperistalsis syndrome],[3442],,,,, +GARD:15196,Active,Orphanet+OMIM,OMIM:250790,Subtype of disorder,[Disease subtype],Methemoglobinemia and ambiguous genitalia,"[methemoglobinemia due to deficiency of cytochrome b5, formerly, Isolated 17,20-lyase deficiency, pure, methemoglobinemia type iv, formerly]","Methemoglobinemia and ambiguous genitalia is due to isolated 17,20-lyase deficiency, defined by apparently normal 17-alpha-hydroxylase activity but severely reduced 17,20-lyase activity of the CYP17A1 enzyme ({609300}), which results in sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve. The clinical phenotype is characterized by male undermasculinization, with absent or disturbed pubertal development in both 46,XY and 46,XX individuals. Mild to severe methemoglobinemia has been reported in these patients ({6:Idkowiak et al., 2012}).\n\nOther autosomal recessive methemoglobinemias include types I and II (see {250800}), caused by mutation in the CYB5R3 gene ({613213}). Isolated 17,20-lyase deficiency can also be caused by mutation in the CYP17A1 gene ({609300}), and mutation in the POR gene can manifest clinically as isolated 17,20-lyase deficiency (see {124015.0016}).",[250790],[621],[Hereditary methemoglobinemia],[2659],,,,, +GARD:15197,Active,Orphanet+OMIM,OMIM:250800,Subtype of disorder,[Disease subtype],Methemoglobinemia due to deficiency of methemoglobin reductase,"[Nadh-dependent methemoglobin reductase deficiency, methemoglobinemia, congenital, autosomal recessive, nadh-cytochrome b5 reductase deficiency]","Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia (review by {40:Percy and Lappin, 2008}).\n\nThere are 2 types of methemoglobin reductase deficiency. In type I, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type II, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes, and all body tissues. Type II methemoglobinemia is associated with mental deficiency and other neurologic symptoms. The neurologic symptoms may be related to the major role played by the cytochrome b5 system in the desaturation of fatty acids ({53:Vives-Corrons et al., 1978}; {28:Kaplan et al., 1979}).",[250800],[621],[Hereditary methemoglobinemia],[2659],,,,, +GARD:15198,Active,Orphanet+OMIM,OMIM:251200,Subtype of disorder,[Etiological subtype],"Microcephaly 1, primary, autosomal recessive","[premature chromosome condensation syndrome, pcc syndrome, Premature chromosome condensation with microcephaly and mental retardation]","Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (review by {29:Woods et al., 2005}).\n\nMost cases of primary microcephaly show an autosomal recessive mode of inheritance. Because MCPH directly affects neurogenesis, or neurogenic mitosis, rather than growth of the skull, some prefer the term 'micrencephaly' ({9:Hofman, 1984}).\n\nMCPH1 in particular is associated with premature chromosome condensation in cell studies ({4:Darvish et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Primary Microcephaly\n\nPrimary microcephaly is a genetically heterogeneous disorder. See MCPH2 ({604317}), caused by mutation in the WDR62 gene ({613583}) on chromosome 19q13; MCPH3 ({604804}), caused by mutation in the CDK5RAP2 gene ({608201}) on 9q33; MCPH4 ({604321}), caused by mutation in the CASC5 gene ({609173}) on 15q14; MCPH5 ({608716}), caused by mutation in the ASPM gene ({605481}) on 1q31; MCPH6 ({608393}), caused by mutation in the CENPJ gene ({609279}) on 13q12; MCPH7 ({612703}), caused by mutation in the STIL gene ({181590}) on 1p33; MCPH8 ({614673}), caused by mutation in the CEP135 gene ({611423}) on 4q12; MCPH9 ({614852}), caused by mutation in the CEP152 gene ({613529}) on 15q21; MCPH10 ({615095}), caused by mutation in the ZNF335 gene ({610827}) on 20q13; MCPH11 ({615414}), caused by mutation in the PHC1 gene ({602978}) on 12p13; MCPH12 ({616080}), caused by mutation in the CDK6 gene ({603368}) on 7q21; MCPH13 ({616051}), caused by mutation in the CENPE gene ({117143}) on 4q24; MCPH14 ({616402}), caused by mutation in the SASS6 gene ({609321}) on 1p21; MCPH15 ({616486}), caused by mutation in the MFSD2A gene ({614397}) on 1p34; MCPH16 ({616681}), caused by mutation in the ANKLE2 gene ({616062}) on 12q24; MCPH17 ({617090}), caused by mutation in the CIT gene ({605629}) on 12q24; MCPH18 ({617520}), caused by mutation in the WDFY3 gene ({617485}) on 4q21; and MCPH19 ({617800}), caused by mutation in the COPB2 gene ({606990}) on 3q23; MCPH20 ({617914}), caused by mutation in the KIF14 gene ({611279}) on 1q31; MCPH21 ({617983}), caused by mutation in the NCAPD2 gene ({615638}) on 12p13; MCPH22 ({617984}), caused by mutation in the NCAPD3 gene ({609276}) on 11q25; MCPH23 ({617985}), caused by mutation in the NCAPH gene ({602332}) on 2q11; MCPH24 ({618179}), caused by mutation in the NUP37 gene ({609264}) on 12q23; MCPH25 ({618351}), caused by mutation in the MAP11 gene ({618350}) on 7q22; MCPH26 ({619179}), caused by mutation in the LMNB1 gene ({150340}) on 5q23; MCPH27 ({619180}), caused by mutation in the LMNB2 gene ({150341}) on 19p13; and MCPH28 ({619453}), caused by mutation in the RRP7A gene ({619449}) on 22q13.",[251200],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15199,Active,Orphanet+OMIM,OMIM:251300,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 1,"[nephrosis-neuronal dysmigration syndrome, Microcephaly, hiatal hernia, and nephrotic syndrome, nephrosis-microcephaly syndrome, galloway syndrome, cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities, spinocerebellar ataxia, autosomal recessive 5, formerly]","Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by {18:Vodopiutz et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Galloway-Mowat Syndrome\n\nSee also GAMOS2 ({301006}), caused by mutation in the LAGE3 gene ({300060}) on chromosome Xq28; GAMOS3 ({617729}), caused by mutation in the OSGEP gene ({610107}) on chromosome 14q11; GAMOS4 ({617730}), caused by mutation in the TP53RK gene ({608679}) on chromosome 20q13; GAMOS5 ({617731}), caused by mutation in the TPRKB gene ({608680}) on chromosome 2p13; GAMOS6 ({618347}), caused by mutation in the WDR4 gene ({605924}) on chromosome 21q22; GAMOS7 ({618348}), caused by mutation in the NUP107 gene ({607617}) on chromosome 12q15; GAMOS8 ({618349}), caused by mutation in the NUP133 gene ({607613}) on chromosome 1q42; GAMOS9 ({619603}), caused by mutation in the GON7 gene ({617436}) on chromosome 14q32; and GAMOS10 ({619609}), caused by mutation in the YRDC gene ({612276}) on chromosome 1p34.",[251300],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:152,Legacy,GARD,,,,,,,,,,,,Samson Viljoen syndrome,TRUE,FALSE,Active +GARD:15200,Active,Orphanet+OMIM,OMIM:251505,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 4",[Microphthalmia with colobomatous cyst],"For a discussion of genetic heterogeneity of isolated microphthalmia with coloboma, see MCOPCB1 ({300345}).\n\nIsolated microphthalmia associated with colobomatous cyst results from a defect in the closure of the embryonic fissure at the 7- to 20-mm stage of development. Microphthalmia can be associated with either a small, clinically undetectable cyst, or a large, typically inferior cyst that deforms the eye and its surroundings. It is usually unilateral, although bilateral cases have been described. {2:Porges et al. (1992)} described 5 cases of microphthalmia with colobomatous cyst in 3 separate sibships of a highly inbred kindred. Orbital computed tomography was useful in defining the size of the globe and characterizing the cystic lesions. None of the 5 patients had light perception in either eye and there was no recordable electroretinogram or visual evoked potentials. Most of the globes were deeply set and undetectable clinically (clinical anophthalmos).\n\n{1:Hornby et al. (2000)} correlated visual function with clinical features and biometric findings in the eyes of children with coloboma. Of the 196 eyes with colobomatous malformations, 11 had microphthalmos with cyst, and 185 eyes had coloboma (associated with microcornea in 155 eyes and with normal corneal diameter in 30 eyes). The visual prognosis depended on the phenotype of the more normal eye. Microphthalmos with cyst had the worst prognosis (all worse than 20/400). Microcornea with microphthalmos had a worse prognosis than microcornea without microphthalmos. For microcornea with microphthalmos, 67% saw worse than 20/400. Of the children with microcornea without microphthalmos, 76% saw better than 20/400. Simple coloboma (without microcornea or microphthalmos) had the best visual prognosis: only 7% saw 20/400 or worse. A corneal diameter of less than 6 mm had a poor visual prognosis, whereas a corneal diameter of more than 10 mm had a good prognosis.",[251505],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15201,Active,Orphanet+OMIM,OMIM:252010,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 1","[nadh:q(1) oxidoreductase deficiency, nadh-coenzyme q reductase deficiency, Mitochondrial complex i deficiency, mitochondrial nadh dehydrogenase component of complex i, deficiency of]","Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders ({21:McFarland et al., 2004}; {16:Kirby et al., 2004}). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (see {256000}), Leber hereditary optic neuropathy ({535000}), and some forms of Parkinson disease (see {556500}) ({19:Loeffen et al., 2000}; {26:Pitkanen et al., 1996}; {28:Robinson, 1998}).\n\n<Subhead> Genetic Heterogeneity of Complex I Deficiency\n\nMitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible (summary by {14:Haack et al., 2012}). However, the majority of cases are caused by mutations in nuclear-encoded genes ({19:Loeffen et al., 2000}; {33:Triepels et al., 2001}).\n\nComplex I deficiency resulting from mutation in nuclear-encoded genes include MC1DN1, caused by mutation in the NDUFS4 gene ({602694}); MC1DN2 ({618222}), caused by mutation in the NDUFS8 gene ({602141}); MC1DN3 ({618224}), caused by mutation in the NDUFS7 gene ({601825}); MC1DN4 ({618225}), caused by mutation in the NDUFV1 gene ({161015}); MC1DN5 ({618226}), caused by mutation in the NDUFS1 gene ({157655}); MC1DN6 ({618228}), caused by mutation in the NDUFS2 gene ({602985}); MC1DN7 ({618229}), caused by mutation in the NDUFV2 gene ({600532}); MC1DN8 ({618230}), caused by mutation in the NDUFS3 gene ({603846}); MC1DN9 ({618232}), caused by mutation in the NDUFS6 gene ({603848}); MC1DN10 ({618233}), caused by mutation in the NDUFAF2 gene ({609653}); MC1DN11 ({618234}), caused by mutation in the NDUFAF1 gene ({606934}); MC1DN12 ({301020}), caused by mutation in the NDUFA1 gene ({300078}); MC1DN13 ({618235}), caused by mutation in the NDUFA2 gene ({602137}); MC1DN14 ({618236}), caused by mutation in the NDUFA11 gene ({612638}); MC1DN15 ({618237}), caused by mutation in the NDUFAF4 gene ({611776}); MC1DN16 ({618238}), caused by mutation in the NDUFAF5 gene ({612360}); MC1DN17 ({618239}), caused by mutation in the NDUFAF6 gene ({612392}); MC1DN18 ({618240}), caused by mutation in the NDUFAF3 gene ({612911}); MC1DN19 ({618241}), caused by mutation in the FOXRED1 gene ({613622}); MC1DN20 ({611126}), caused by mutation in the ACAD9 gene ({611103}); MC1DN21 ({618242}), caused by mutation in the NUBPL gene ({613621}); MC1DN22 ({618243}), caused by mutation in the NDUFA10 gene ({603835}); MC1DN23 ({618244}), caused by mutation in the NDUFA12 gene ({614530}); MC1DN24 ({618245}), caused by mutation in the NDUFB9 gene ({601445}); MC1DN25 ({618246}), caused by mutation in the NDUFB3 gene ({603839}); MC1DN26 ({618247}), caused by mutation in the NDUFA9 gene ({603834}); MC1DN27 ({618248}), caused by mutation in the MTFMT gene ({611766}); MC1DN28 ({618249}), caused by mutation in the NDUFA13 gene ({609435}); MC1DN29 ({618250}), caused by mutation in the TMEM126B gene ({615533}); MC1DN30 ({301021}), caused by mutation in the NDUFB11 gene ({300403}); MC1DN31 ({618251}), caused by mutation in the TIMMDC1 gene ({615534}); MC1DN32 ({618252}), caused by mutation in the NDUFB8 gene ({602140}); MC1DN33 ({618253}), caused by mutation in the NDUFA6 gene ({602138}); MC1DN34 ({618776}), caused by mutation in the NDUFAF8 gene ({618461}); MC1DN35 ({619003}), caused by mutation in the NDUFB10 gene ({603843}); MC1DN36 ({619170}), caused by mutation in the NDUFC2 gene ({603845}); MC1DN37 ({619272}), caused by mutation in the NDUFA8 gene ({603359}); and MC1DN38 ({619382}), caused by mutation in the DNAJC30 gene ({618202}).\n\nComplex I deficiency with mitochondrial inheritance has been associated with mutation in 6 mitochondrial-encoded components of complex I: MTND1 ({516000}), MTND2 ({516001}), MTND3 ({516002}), MTND4 ({516003}), MTND5 ({516005}), MTND6 ({516006}). Most of these patients have a phenotype of Leber hereditary optic neuropathy (LHON; {535000}) or Leigh syndrome. Features of complex I deficiency may also be caused by mutation in other mitochondrial genes, including MTTS2 ({590085}).",[252010],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:15202,Active,Orphanet+OMIM,OMIM:252011,Subtype of disorder,[Disease subtype],"Mitochondrial complex ii deficiency, nuclear type 1","[succinate dehydrogenase deficiency, Succinate coq reductase deficiency]","Mitochondrial complex II deficiency is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, and muscle with onset in infancy, whereas others have only isolated cardiac or muscle involvement. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by {6:Jain-Ghai et al., 2013}).\n\nComplex II, also known as succinate dehydrogenase, is part of the mitochondrial respiratory chain.\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex II Deficiency\n\nSee MC2DN2 ({619166}), caused by mutation in the SDHAF1 gene ({612848}) on chromosome 19q13; MC2DN3 ({619167}), caused by mutation in the SDHD gene ({602690}) on chromosome 11q23; and MC2DN4 ({619224}), caused by mutation in the SDHB gene ({185470}) on chromosome 1p36.\n\n{5:Fullerton et al. (2020)} reviewed the genetic basis of isolated mitochondrial complex II deficiency.",[252011],[3208],[Isolated succinate-CoQ reductase deficiency],[5053],,,,, +GARD:15203,Active,Orphanet+OMIM,OMIM:252250,Subtype of disorder,[Disease subtype],Monocyte chemotactic disorder,,"In a 9-year-old girl with chronic mucocutaneous candidiasis and cutaneous anergy, {1:Snyderman et al. (1973)} found that mononuclear leukocytes failed to migrate in vitro toward two chemotactic stimuli, leukocyte-derived chemotactic factor and C5A. After treatment with transfer factor, the patient's monocytes responded to both chemotactic factors. There is no information on the genetics of this presumably genetic disorder, but autosomal recessive inheritance is a reasonable presumption. Deficiency of leukocyte myeloperoxidase has been found with disseminated candidiasis ({254600}). In other cases chronic mucocutaneous candidiasis has been related to a deficiency of lymphokine ({247650}) or a defect in lymphocyte transformation that either is intrinsic ({247450}) or results from inhibition by a serum factor ({247430}).",[252250],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15204,Active,Orphanet+OMIM,OMIM:253280,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3","[Walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' (summary by {7:Godfrey et al., 2007}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[253280],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15205,Active,Orphanet+OMIM,OMIM:253800,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4","[walker-warburg syndrome or muscle-eye-brain disease, fktn-related, Fukuyama congenital muscular dystrophy]","MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({8:Godfrey et al., 2007}; {19:Muntoni and Voit, 2004}; {18:Muntoni et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[253800],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15206,Active,Orphanet+OMIM,OMIM:254300,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 10","[cms ib, formerly, myasthenic myopathy, formerly, congenital myasthenic syndrome type ib, formerly, Myasthenia, limb-girdle, familial, formerly]","Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors should be avoided (summary by {5:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[254300],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15207,Active,Orphanet+OMIM,OMIM:255160,Subtype of disorder,[Disease subtype],"Myopathy, myosin storage, autosomal recessive","[Myopathy, hyaline body, autosomal recessive]",,[255160],[53698],[Hyaline body myopathy],[7148],,,,, +GARD:15208,Active,Orphanet+OMIM,OMIM:255200,Subtype of disorder,[Disease subtype],"Myopathy, centronuclear, 2","[Myopathy, centronuclear, autosomal recessive, myotubular myopathy, autosomal recessive]",,[255200],[169186],[Autosomal recessive centronuclear myopathy],[12718],,,,, +GARD:15209,Active,Orphanet+OMIM,OMIM:256030,Subtype of disorder,[Disease subtype],Nemaline myopathy 2,,"Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by {3:Lehtokari et al., 2014}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800}).\n\nMutations in the NEB gene are the most common cause of nemaline myopathy ({4:Lehtokari et al., 2006}).",[256030],"[171436, 171433, 171430, 171439]","[Severe congenital nemaline myopathy, Typical nemaline myopathy, Intermediate nemaline myopathy, Childhood-onset nemaline myopathy]","[12821, 12822, 12823, 7171]",,,,, +GARD:1521,Active,Orphanet,ORPHA:565,Disorder,[Disease],Menkes disease,"[MD, Menkes kinky hair disease, Menkes syndrome]","A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair.",[309400],,,,,Menkes disease,TRUE,FALSE,Active +GARD:15210,Active,Orphanet+OMIM,OMIM:256370,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 4",,"Nephrotic syndrome, a malfunction of the glomerular filter, leads to proteinuria, edema, and, in steroid-resistant nephrotic syndrome, end-stage renal disease (ESRD). Renal histopathology in NPHS4 due to WT1 mutations most often shows diffuse mesangial sclerosis (DMS), but can also show focal segmental glomerulosclerosis (FSGS). Both of these terms refer to pathologic findings and may be associated with the same clinical phenotype, namely nephrotic syndrome (review by {7:Schumacher et al., 1998}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[256370],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15211,Active,Orphanet+OMIM,OMIM:256700,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 1",,"Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all cancer deaths in children. Some patients inherit a genetic predisposition to neuroblastoma due to germline mutations, whereas others develop sporadic disease that may result from either germline or somatic mutations. Neuroblastoma tumors are derived from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system ({52:Roberts et al., 1998}; {20:Eng, 2008}). Histopathologically, neuroblastoma can range in type from the most aggressive form, neuroblastoma, composed entirely of immature neural precursor cells, to ganglioneuroma, composed entirely of mature neural tissue. The most important prognostic factor for patients with neuroblastoma is the extent of the tumor at the time of diagnosis ({52:Roberts et al., 1998}).\n\nNeuroblastoma can also be part of cancer-prone syndromes, such as paragangliomas (see, e.g., PGL4; {115310}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Neuroblastoma\n\nSusceptibility to neuroblastoma is genetically heterogeneous and is conferred by mutation in the PHOX2B gene ({603851}) on chromosome 4p12 (NBLST2; {613013}) and by mutation in the ALK gene ({105590}) on chromosome 2p23 (NBLST3; {613014}).\n\nLoci implicated in the development of neuroblastoma include 6p (NBLST4; {613015}), 2q35 (NBLST5; {613016}), and 1q21 (NBLST6; {613017}).",[256700],[635],[Neuroblastoma],[7185],,,,, +GARD:15212,Active,Orphanet+OMIM,OMIM:257270,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1b","[Night blindness, congenital stationary, complete, autosomal recessive, csnb, complete, autosomal recessive]",,[257270],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15213,Active,Orphanet+OMIM,OMIM:257850,Subtype of disorder,[Malformation syndrome subtype],"Oculodentodigital dysplasia, autosomal recessive","[odod, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, Oddd, autosomal recessive]",,[257850],[2710],[Oculodentodigital dysplasia],[7239],,,,, +GARD:15214,Active,Orphanet+OMIM,OMIM:258150,Subtype of disorder,[Disease subtype],Spermatogenic failure 1,"[Oligosynaptic infertility, oligochiasmatic infertility]","Spermatogenic arrest during meiosis is a cause of infertility. The histologic picture of meiotic arrest is rather constant. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n but are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules, degenerate, and are easily distinguishable from normal spermatocytes by their partially condensed chromosomes. Although the cause of infertility in patients with meiotic arrest often remains unidentified, this histologic picture can be observed in patients with nonidiopathic infertility as well, such as in the case of microdeletions of the Y chromosome, chromosomal abnormalities, and cryptorchidism, suggesting that different causal factors can result in the same effect (summary by {5:Luetjens et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Spermatogenic Failure\n\nSee SPGF2 ({108420}), caused by mutation in the MSH4 gene ({602105}) on chromosome 1p31; SPGF3 ({606766}), caused by mutation in the SLC26A8 gene ({608480}) on chromosome 6p21; SPGF4 ({270960}), caused by mutation in the SYCP3 gene ({604759}) on chromosome 12q23; SPGF5 ({243060}), caused by mutation in the AURKC gene ({603495}) on chromosome 19q13; SPGF6 ({102530}), caused by mutation in the SPATA16 gene ({609856}) on chromosome 3q26; SPGF7 ({612997}), caused by mutation in the CATSPER gene ({606389}) on chromosome 11q13; SPGF8 ({613957}), caused by mutation in the NR5A1 gene ({184757}) on chromosome 9q33; SPGF9 ({613958}), caused by mutation in the DPY19L2 gene ({613893}) on chromosome 12q14; SPGF10 ({614822}), caused by mutation in the SEPT12 gene ({611562}) on chromosome 16p13; SPGF11 ({615081}), caused by mutation in the KLHL10 gene ({608778}) on chromosome 17p21; SPGF12 ({615413}), caused by mutation in the NANOS1 gene ({608226}) on chromosome 10q26; SPGF13 ({615841}), caused by mutation in the TAF4B gene ({601689}) on chromosome 18q11; SPGF14 ({615842}), caused by mutation in the ZMYND15 gene ({614312}) on chromosome 17p13; SPGF15 ({616950}), caused by mutation in the SYCE1 gene ({611486}) on chromosome 10q26; SPGF16 ({617187}), caused by mutation in the SUN5 gene ({613942}) on chromosome 20q11; SPGF17 ({617214}), caused by mutation in the PLCZ1 gene ({608075}) on chromosome 12p12; SPGF18 ({617576}), caused by mutation in the DNAH1 gene ({603332}) on chromosome 3p21; SPGF19 ({617592}), caused by mutation in the CFAP43 gene ({617558}) on chromosome 10q25; SPGF20 ({617593}), caused by mutation in the CFAP44 gene ({617559}) on chromosome 3q13; SPGF21 ({617644}), caused by mutation in the BRDT gene ({602144}) on chromosome 1p22; SPGF22 ({617706}), caused by mutation in the MEIOB gene ({617670}) on chromosome 16p13; SPGF23 ({617707}), caused by mutation in the TEX14 gene ({605792}) on chromosome 17q22; SPGF24 ({617959}), caused by mutation in the CFAP69 gene ({617949}) on chromosome 7q21; SPGF25 ({617960}), caused by mutation in the TEX15 gene ({605795}) on chromosome 8p12; SPGF26 ({617961}), caused by mutation in the TSGA10 gene ({607166}) on chromosome 2q11; SPGF27 ({617965}), caused by mutation in the AK7 gene ({615364}) on chromosome 14q32; SPGF28 ({618086}), caused by mutation in the FANCM gene ({609644}) on chromosome 14q21; SPGF29 ({618091}), caused by mutation in the SPINK2 gene ({605753}) on chromosome 4q12; SPGF30 ({618110}), caused by mutation in the TDRD9 gene ({617963}) on chromosome 14q32; SPGF31 ({618112}), caused by mutation in the PMFBP1 gene ({618085}) on chromosome 16q22; SPGF32 ({618115}), caused by mutation in the SOHLH1 gene ({610224}) on chromosome 9q34; SPGF33 ({618152}), caused by mutation in the WDR66 gene ({618146}) on chromosome 12q24; SPGF34 ({618153}), caused by mutation in the FSIP2 gene ({615796}) on chromosome 2q32; SPGF35, caused by mutation in the QRICH2 gene ({618304}) on chromosome 17q25; SPGF36 ({618420}), caused by mutation in the PPP2R3C gene ({615902}) on chromosome 14q13; SPGF37 ({618429}), caused by mutation in the TTC21A gene ({611430}) on chromosome 3p22; SPGF38 ({618433}), caused by mutation in the ARMC2 gene ({618424}) on chromosome 6q21; SPGF39 ({618643}), caused by mutation in the DNAH17 gene ({610063}) on chromosome 17q25; SPGF40 ({618664}), caused by mutation in the CFAP65 gene ({614270}) on chromosome 2q35; SPGF41 ({618670}), caused by mutation in the CFAP70 gene ({618661}) on chromosome 10q22; SPGF42 ({618745}), caused by mutation in the TTC29 gene ({618735}) on chromosome 4q31; SPGF43 ({618751}), caused by mutation in the SPEF2 gene ({610172}) on chromosome 5p13; SPGF44 ({619044}), caused by mutation in the CEP112 gene ({618980}) on chromosome 17q24; SPGF45 ({619094}), caused by mutation in the DNAH2 gene ({603333}) on chromosome 17p13; SPGF46 ({619095}), caused by mutation in the DNAH8 gene ({603337}) on chromosome 6p21; SPGF47 ({619102}), caused by mutation in the DZIP1 gene ({608671}) on chromosome 13q32; SPGF48 ({619108}), caused by mutation in the M1AP gene ({619098}) on chromosome 2p13; SPGF49 ({619144}), caused by mutation in the CFAP58 gene ({619129}) on chromosome 10q25; SPGF50 ({619145}), caused by mutation in the XRCC2 gene ({600375}) on chromosome 7q36; SPGF51 ({619177}), caused by mutation in the CFAP91 gene ({609910}) on chromosome 3q13; SPGF52 ({619202}), caused by mutation in the C14ORF39 gene ({617307}) on chromosome 14q23; SPGF53 ({619258}), caused by mutation in the ACTL9 gene ({619251}) on chromosome 19p13; SPGF54 ({619379}), caused by mutation in the CATIP gene ({619387}) on chromosome 2q35; SPGF55 ({619380}), caused by mutation in the SPAG17 gene ({616554}) on chromosome 1p12; SPGF56 ({619515}), caused by mutation in the DNAH10 gene ({605884}) on chromosome 12q24; SPGF57 ({619528}), caused by mutation in the PNLDC1 gene ({619529}) on chromosome 6q25; SPGF58 ({619585}), caused by mutation in the IFT74 gene ({608040}) on chromosome 9p21; SPGF59 ({619645}), caused by mutation in the TERB2 gene ({617131}) on chromosome 15q21; SPGF60 ({619646}), caused by mutation in the TERB1 gene ({617332}) on chromosome 16q22; SPGF61 ({619672}), caused by mutation in the STAG3 gene ({608489}) on chromosome 7q22; SPGF62 ({619673}), caused by mutation in the RNF212 gene ({612041}) on chromosome 4p16; SPGF63 ({619689}), caused by mutation in the RPL10L gene ({619655}) on chromosome 14q21; SPGF64 ({619696}), caused by mutation in the FBXO43 gene ({609110}) on chromosome 8q22; SPGF65 ({619712}), caused by mutation in the DNHD1 gene ({617277}) on chromosome 11p15; SPGF66 ({619799}), caused by mutation in the ZPBP gene ({608498}) on chromosome 7p12; SPGF67 ({619803}), caused by mutation in the CCDC62 gene ({613481}) on chromosome 12q24; SPGF68 ({619805}), caused by mutation in the C2CD6 gene ({613481}) on chromosome 2q33; SPGF69 ({619826}), caused by mutation in the GGN gene ({609966}) on chromosome 19q13; and SPGF70 ({619828}), caused by mutation in the PDHA2 gene ({179061}) on chromosome 4q22; SPGF71 ({619831}), caused by mutation in the ZSWIM7 gene ({614535}) on chromosome 17p12; SPGF72 ({619867}), caused by mutation in the WDR19 gene ({608151}) on chromosome 4p14; SPGF73 ({619878}), caused by mutation in the MOV10L1 gene ({605794}) on chromosome 22q13; SPGF74 ({619937}), caused by mutation in the MSH5 gene ({603382}) on chromosome 6p21; and SPGF75 ({619949}), caused by mutation in the SHOC1 gene ({618038}) on chromosome 9q31.\n\nX-linked forms of spermatogenic failure include SPGFX1 ({305700}), SPGFX2 ({309120}), SPGFX3 ({301059}), and SPGFX4 ({301077}).\n\nY-linked forms of spermatogenic failure include SPGFY1 ({400042}) and SPGFY2 ({415000}).\n\nSpermatogenic failure can also result from underlying endocrinologic disorders (see, e.g., hypogonadotropic hypogonadism, {146110}) or ciliary dyskinesias (see, e.g., CILD1, {244400}).",[258150],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15215,Active,Orphanet+OMIM,OMIM:258450,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1","[Progressive external ophthalmoplegia, autosomal recessive 1]","Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({9:Filosto et al., 2003}; {13:Luoma et al., 2004}).\n\n{7:Drachman (1975)} gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' ({6:Drachman, 1968}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA Deletions\n\nSee also PEOB2 ({616479}), caused by mutation in the RNASEH1 gene ({604123}) on chromosome 2p25; PEOB3 ({617069}), caused by mutation in the TK2 gene ({188250}) on chromosome 16q21; PEOB4 ({617070}), caused by mutation in the DGUOK gene ({601465}) on chromosome 2p13; and PEOB5 ({618098}), caused by mutation in the TOP3A gene ({601243}) on chromosome 17p11.",[258450],[254886],[Autosomal recessive progressive external ophthalmoplegia],[1191],,,,, +GARD:15216,Active,Orphanet+OMIM,OMIM:259100,Subtype of disorder,[Malformation syndrome subtype],"Hypertrophic osteoarthropathy, primary, autosomal recessive, 1","[pdp, autosomal recessive, touraine-solente-gole syndrome, Pho, autosomal recessive, pachydermoperiostosis, autosomal recessive]","Autosomal recessive primary hypertrophic osteoarthropathy-1 (PHOAR1) is a rare familial disorder characterized by digital clubbing, osteoarthropathy, and acroosteolysis, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease (summary by {26:Uppal et al., 2008}; {16:Radhakrishnan et al., 2020}).\n\nSecondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm ({26:Uppal et al., 2008}).\n\n{25:Touraine et al. (1935)} recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes.\n\n<Subhead> Genetic Heterogeneity\n\nPHOAR2 ({614441}) is caused by mutation in the SLCO2A1 gene ({601460}) on chromosome 3q22.\n\nFamilies with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD; {167100}).",[259100],[2796],[Pachydermoperiostosis],[7299],,,,, +GARD:15217,Active,Orphanet+OMIM,OMIM:259200,Subtype of disorder,[Malformation syndrome subtype],"Blount disease, adolescent","[Osteochondrosis deformans tibiae, adolescent, tibia vara, adolescent]","Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by {3:Sabharwal, 2009}).",[259200],[2768],[Blount disease],[916],,,,, +GARD:15218,Active,Orphanet+OMIM,OMIM:259750,Subtype of disorder,[Malformation syndrome subtype],"Osteoporosis, juvenile",[Idiopathic juvenile osteoporosis],"Idiopathic osteoporosis of childhood or adolescence without blue sclerae and other stigmata of osteogenesis imperfecta is occasionally observed and sometimes more than one sib is affected. This condition, which may be a distinct recessively inherited entity, was delineated by {4:Dent and Friedman (1965)} and was reviewed by {3:Dent (1969)}. The condition described by {2:Chowers et al. (1962)} may fall into this category, but the presence of amino aciduria and low serum uric acid makes a renal tubular defect of the Fanconi type likely. {7:Marder et al. (1982)} demonstrated low plasma calcitriol (1,25-dihydroxycholecalciferol) and normal serum calcifediol (25-hydroxycholecalciferol) in a 12-year-old girl with idiopathic juvenile osteoporosis. Deficiency of calcitonin has been suspected in cases of IJO, but exogenous calcitonin, in the experience of {5:Jackson et al. (1988)}, had no benefit. Although IJO heals spontaneously in conjunction with sexual maturation, exogenous estrogen and androgen treatment has not been beneficial. {8:Teotia et al. (1979)} described 4 affected children and tabulated the features of 27 other reported patients.",[259750],[85193],[Idiopathic juvenile osteoporosis],[6760],,,,, +GARD:15219,Active,Orphanet+OMIM,OMIM:260130,Subtype of disorder,[Disease subtype],"Pachyonychia congenita, autosomal recessive",,"For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.",[260130],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:1522,Active,Orphanet,ORPHA:1551,Disorder,[Disease],Familial benign copper deficiency,[Familial benign hypocupremia],"Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988.",[121270],,,,,"Copper deficiency, familial benign",TRUE,FALSE,Active +GARD:15220,Active,Orphanet+OMIM,OMIM:260370,Subtype of disorder,[Morphological anomaly subtype],Pancreatic agenesis 1,"[Pagen, pancreatic hypoplasia, congenital]",,[260370],[2805],[Partial pancreatic agenesis],[4203],,,,, +GARD:15221,Active,Orphanet+OMIM,OMIM:260400,Subtype of disorder,[Disease subtype],Shwachman-diamond syndrome 1,"[Shwachman-diamond syndrome, lipomatosis of pancreas, congenital, pancreatic insufficiency and bone marrow dysfunction, shwachman-bodian syndrome]","Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and varying degrees of marrow dysfunction with cytopenias. Myelodysplastic syndrome and acute myeloid leukemia occur in up to one third of patients (summary by {12:Dror and Freedman, 1999}).\n\nFor a review of Shwachman-Diamond syndrome, see {14:Dror and Freedman (2002)}.\n\n<Subhead> Genetic Heterogeneity of Shwachman-Diamond Syndrome\n\nShwachman-Diamond syndrome-2 (SDS2; {617941}) is caused by mutation in the EFL1 gene ({617538}) on chromosome 15q25.",[260400],[811],[Shwachman-Diamond syndrome],[4863],,,,, +GARD:15222,Active,Orphanet+OMIM,OMIM:262600,Subtype of disorder,[Disease subtype],"Pituitary hormone deficiency, combined, 2","[Panhypopituitarism, hanhart dwarfism, pituitary dwarfism iii, ateliotic dwarfism with hypogonadism]",,[262600],"[95494, 90695]","[Combined pituitary hormone deficiencies, genetic forms, Non-acquired panhypopituitarism]","[10602, 15020]",,,,, +GARD:15223,Active,Orphanet+OMIM,OMIM:263210,Subtype of disorder,[Disease subtype],Gillessen-kaesbach-nishimura syndrome,"[Polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia]","Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by {4:Tham et al., 2016}).",[263210],[79328],[ALG9-CDG],[9839],,,,, +GARD:15224,Active,Orphanet+OMIM,OMIM:263520,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 6 with or without polydactyly,"[short rib-polydactyly syndrome, type iia, majewski syndrome, polydactyly with neonatal chondrodystrophy, type ii, Short rib-polydactyly syndrome, type ii, srps, type ii]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {6:Huber and Cormier-Daire, 2012} and {11:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[263520],[93269],"[Short rib-polydactyly syndrome, Majewski type]",[4833],,,,, +GARD:15225,Active,Orphanet+OMIM,OMIM:264050,Subtype of disorder,[Malformation syndrome subtype],Prenatal bowing,,"Uncomplicated prenatal bowing of the long bones with dimpling has been described in sibs ({1:Conway, 1958}; {4:Mahloudji et al., 1974}). Prenatal bowing also occurs with osteogenesis imperfecta, hypophosphatasia, and camptomelic dysplasia. {2:Hall and Spranger (1980)} gave a review of congenital bowing of the long bones and identified 3 groups of cases among the 'bewildering variety of bone changes and associated clinical abnormalities which only rarely seem to fall into a recognizable pattern.' {3:Kapur and Van Vloten (1986)} observed congenital bowing in a child whose mother had bowing in infancy. Her adult height was 159.5 cm and x-rays showed minimal bowing of the femur. The child's bowing of the femurs was self-correcting over a period of 22 months.",[264050],[2292],[Congenital bowing of long bones],[953],,,,, +GARD:15226,Active,Orphanet+OMIM,OMIM:266510,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 3b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {5:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.",[266510],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15227,Active,Orphanet+OMIM,OMIM:266920,Subtype of disorder,[Disease subtype],Short-rib thoracic dysplasia 9 with or without polydactyly,"[renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia, conorenal syndrome, Mainzer-saldino syndrome]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {5:Huber and Cormier-Daire, 2012} and {13:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[266920],[140969],[Saldino-Mainzer syndrome],[8600],,,,, +GARD:15228,Active,Orphanet+OMIM,OMIM:267200,Subtype of disorder,[Disease subtype],Renal tubular acidosis iii,"[Rta, dislocation type, rta, bicarbonate-wasting type]","{3:Morris et al. (1969)} observed 2 unrelated infant girls with a distinct form of bicarbonate-wasting RTA, which they referred to as dislocation type. {1:Huth et al. (1960)} separated the group with onset in infancy and childhood from that with onset in later life. The former seems to be a genetic disorder transmitted as an autosomal recessive, although a predominance of males has been observed. {4:Wilson et al. (1967)} studied 2 families, each with a case of late-onset renal tubular acidosis, and found elevation of serum immunoglobulins in close relatives but no other cases of renal tubular acidosis. Renal tubular acidosis becomes apparent because of: periodic paralysis due to hypokalemia; rickets or osteomalacia; kidney stones; or nephrocalcinosis by abdominal x-ray.",[267200],[2785],[Osteopetrosis with renal tubular acidosis],[4154],,,,, +GARD:15229,Active,Orphanet+OMIM,OMIM:267300,Subtype of disorder,[Clinical subtype],"Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss","[rta with progressive nerve deafness, renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis, autosomal recessive, with progressive nerve deafness]",,[267300],[402041],[Autosomal recessive distal renal tubular acidosis],[4666],,,,, +GARD:1523,Legacy,GARD,,,,,,,,,,,,Cormier Rustin Munnich syndrome,TRUE,FALSE,Active +GARD:15230,Active,Orphanet+OMIM,OMIM:268025,Subtype of disorder,[Disease subtype],"Retinitis pigmentosa, late-adult onset","[Retinitis pigmentosa, 'senile']","Retinitis pigmentosa with onset of symptoms in the fifth or sixth decade is called senile retinitis pigmentosa. {1:Bonneau et al. (1992)} reported a family with 2 affected sisters whose parents were first cousins. Symptoms began in their fifties. The family originated from an area of France where consanguinity is not frequent. {2:Grondahl (1987)} described a Norwegian family in which 3 sibs had RP diagnosed at 58, 61, and 57 years of age; the parents came from the same Norwegian island and might have been consanguineous. In a survey of clinical aspects of RP in 93 families, {3:Kaplan et al. (1990)} found that autosomal recessive RP represented 21.5% of cases or 25.8% if isolated cases with consanguineous parents were considered. They found 2 main clinical profiles: one type was characterized by precocious onset (mean age, 7.5 years) and severe progression, whereas the second type occurred later (mean age, 17 years) and had a milder clinical course. RP with late onset (senile RP) may represent a third type of autosomal recessive retinitis pigmentosa.",[268025],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15231,Active,Orphanet+OMIM,OMIM:268060,Subtype of disorder,[Disease subtype],"Retinopathy, pericentral pigmentary, autosomal recessive","[Retinitis pigmentosa, pericentral]","{2:Traboulsi et al. (1988)} described a brother and sister, born to parents related as third cousins, who had pigmentary retinopathy in a pericentral distribution. The retinopathy was noted in infancy when the sibs were examined for strabismus. The optic discs, maculae, and retinal vessels were normal. Both sibs had moderate hyperopic astigmatism and esotropia. The fundus and visual acuity remained unchanged for 9 and 13 years in the brother and sister, respectively. Results of eye examinations in the father, mother, and older sister were normal. The stability of the retinal findings in visual acuity suggested a long-term favorable prognosis. {2:Traboulsi et al. (1988)} found 18 well-documented cases of pericentral pigmentary retinopathy in the literature. Although recessive inheritance had been suggested, it had never been substantiated in any of the reports. Disorders that have been labeled as central pigmentary retinopathy or inverse retinitis pigmentosa include cone-rod dystrophy ({120970}), Stargardt disease ({248200}), and Best disease ({153700}).\n\n{1:Sandberg et al. (2005)} studied 18 patients, aged 32 to 65 years, with pericentral retinitis pigmentosa with follow-up for 3 to 26 years. Estimated mean annual rates of decline of remaining ocular function were 1.2% for visual acuity, 1.9% for visual field area, and 2.9% for electroretinogram amplitude for 30 Hz flashes. {1:Sandberg et al. (2005)} noted that these rates were generally slower than those previously reported for patients with typical forms of retinitis pigmentosa. Their patient sample included 2 pairs of affected sibs with normal parents and otherwise isolated cases.\n\nSee {180210} for a possible autosomal dominant form of pericentral pigmentary retinopathy.",[268060],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15232,Active,Orphanet+OMIM,OMIM:268240,Subtype of disorder,[Disease subtype],Rheumatic fever-related antigen,"[Rheumatic fever, acute, susceptibility to, included]","Rheumatic fever (RF) is a delayed sequel to throat infection by Streptococcus pyogenes and affects susceptible untreated children. The disease manifests as polyarthritis, carditis, chorea, erythema marginatum, and/or subcutaneous nodules. Nearly 75% of affected children display arthritis and 30 to 45% develop carditis, which causes heart damage with pericardial, myocardial, and endocardial involvement followed by progressive and permanent valvular lesions leading to rheumatic heart disease (RHD) (summary by {2:Guilherme et al., 2007}).",[268240],[3099],[Rheumatic fever],[5699],,,,, +GARD:15233,Active,Orphanet+OMIM,OMIM:269500,Subtype of disorder,[Malformation syndrome subtype],Sclerosteosis 1,"[Sost, cortical hyperostosis with syndactyly]","Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by {8:Brunkow et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Sclerosteosis\n\nSclerosteosis-2 (SOST2; {614305}) is caused by mutation in the LRP4 gene ({604270}) on chromosome 11p11.",[269500],[3152],[Sclerosteosis],[4771],,,,, +GARD:15234,Active,Orphanet+OMIM,OMIM:269720,Subtype of disorder,[Disease subtype],"Seizures, benign familial neonatal, autosomal recessive","[epilepsy, benign familial neonatal, autosomal recessive, convulsions, benign familial neonatal, autosomal recessive, Bfns, autosomal recessive]","For a phenotypic description and a discussion of genetic heterogeneity of benign neonatal seizures, see BFNS1 ({121200}).",[269720],[1949],[Benign familial neonatal epilepsy],[1519],,,,, +GARD:15235,Active,Orphanet+OMIM,OMIM:270960,Subtype of disorder,[Disease subtype],Spermatogenic failure 4,"[azoospermia with maturation arrest, Azoospermia due to perturbations of meiosis, spermatogenesis arrest]","Azoospermia, a condition in which there are no sperm present in the ejaculate, has historically been divided into 2 broad categories, obstructive (e.g., {277180}) and nonobstructive. Among the genetically based, inherited nonobstructive causes are defects of spermatogenesis, which may interrupt the development of the sperm at various stages, either before (e.g., {415000}) or during meiosis. SPGF4 is a form of azoospermia due to perturbations of meiosis.\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).\n\n<Subhead> Recurrent Pregnancy Loss\n\nMiscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks' gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by {6:Rai and Regan, 2006}).\n\nPregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks' gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for recurrent pregnancy loss include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by {8:Warren and Silver, 2008}).\n\nFor a discussion of genetic heterogeneity of recurrent pregnancy loss, see RPRGL1 ({614389}).",[270960],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15236,Active,Orphanet+OMIM,OMIM:270970,Subtype of disorder,[Disease subtype],"Spherocytosis, type 3","[Spherocytosis, hereditary, 3]",,[270970],[822],[Hereditary spherocytosis],[6639],,,,, +GARD:15237,Active,Orphanet+OMIM,OMIM:271600,Subtype of disorder,[Disease subtype],"Spondyloepiphyseal dysplasia tarda, autosomal recessive",,,[271600],[93284],[Spondyloepiphyseal dysplasia tarda],[10624],,,,, +GARD:15238,Active,Orphanet+OMIM,OMIM:273395,Subtype of disorder,[Malformation syndrome subtype],Tetraamelia syndrome 1,"[Tetraamelia syndrome, autosomal recessive]","Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects ({5:Niemann et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of tetraamelia syndrome\n\nTetraamelia syndrome-2 (TETAMS2; {618021}) is caused by mutation in the RSPO2 gene ({610575}) on chromosome 8q23.",[273395],[3301],[Tetraamelia-multiple malformations syndrome],[386],,,,, +GARD:15239,Active,Orphanet+OMIM,OMIM:273750,Subtype of disorder,[Malformation syndrome subtype],Three m syndrome 1,"[le merrer syndrome, gloomy face syndrome, dolichospondylic dysplasia, 3m syndrome]","3M syndrome is an autosomal recessive disorder characterized by distinctive facial features, severe prenatal and postnatal growth retardation, and normal mental development. The main skeletal anomalies are long, slender tubular bones, reduced anteroposterior diameter of the vertebral bodies, and delayed bone age. Other skeletal manifestations include joint hypermobility, joint dislocation, winged scapulae, and pes planus (summary by {2:Badina et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of 3M Syndrome\n\nAlso see 3M syndrome-2 (3M2; {612921}), caused by mutation in the OBSL1 gene ({610991}) on chromosome 2q35, and 3M syndrome-3 (3M3; {614205}), caused by mutation in the CCDC8 gene ({614145}) on chromosome 19q13.",[273750],[2616],[3M syndrome],[5667],,,,, +GARD:1524,Legacy,GARD,,,,,,,,,,,,Corneal anesthesia deafness mental retardation,TRUE,FALSE,Retired +GARD:15240,Active,Orphanet+OMIM,OMIM:273800,Subtype of disorder,[Disease subtype],Glanzmann thrombasthenia 1,"[thrombasthenia of glanzmann and naegeli, platelet glycoprotein iib-iiia deficiency, glanzmann thrombasthenia, gp iib-iiia complex deficiency, Bleeding disorder, platelet-type, 2, platelet fibrinogen receptor deficiency, glycoprotein complex iib-iiia deficiency]","Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa (ITGB3; {173470}) platelet surface fibrinogen receptor complex resulting from mutations in the GPIIb gene ({50:Rosenberg et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Glanzmann Thrombasthenia\n\nSee Glanzmann thrombasthenia-2 (GT2; {619267}), caused by mutation the ITGB3 gene ({173470}) on chromosome 17q21.32.\n\nSee review by {6:Botero et al. (2020)}.",[273800],[849],[Glanzmann thrombasthenia],[2478],,,,, +GARD:15241,Active,Orphanet+OMIM,OMIM:276901,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iia",,"Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes ({14:Eudy et al., 1998}). See {276900} for clinical characterization of Usher syndrome types I, II, and III.\n\n<Subhead> Genetic Heterogeneity of Usher Syndrome Type II\n\nUsher syndrome type II is genetically heterogeneous. USH2C ({605472}) is caused by mutation in the ADGRV1 gene ({602851}) or by biallelic digenic mutation in the ADGRV1 and PDZD7 ({612971}) genes. USH2D ({611383}) is caused by mutation in the WHRN gene ({607928}).\n\nThe locus designation USH2B has been withdrawn; see HISTORY.",[276901],[231178],[Usher syndrome type 2],[5440],,,,, +GARD:15242,Active,Orphanet+OMIM,OMIM:276902,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iiia","[Usher syndrome, type iii]","Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life ({10:Karjalainen et al., 1985}; {13:Pakarinen et al., 1995}).\n\nFor a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 ({276900}).\n\n<Subhead> Genetic Heterogeneity of Usher syndrome Type III\n\nUsher syndrome type IIIB ({614504}) is caused by mutation in the HARS gene ({142810}) on chromosome 5q31.3.",[276902],[231183],[Usher syndrome type 3],[5442],,,,, +GARD:15243,Active,Orphanet+OMIM,OMIM:277180,Subtype of disorder,[Morphological anomaly subtype],"Vas deferens, congenital bilateral aplasia of",[Cavd],"Congenital bilateral absence of the vas deferens is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD, mutations are identified in the CFTR gene (summary by {16:Patat et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Congenital Bilateral Aplasia of Vas Deferens\n\nAlso see CBAVDX ({300985}), caused by mutation in the ADGRG2 gene ({300572}).",[277180],[48],[Congenital bilateral absence of vas deferens],[5461],,,,, +GARD:15244,Active,Orphanet+OMIM,OMIM:277470,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2a","[Pch2, volendam neurodegenerative disease, pontocerebellar hypoplasia with progressive cerebral atrophy]","Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}).\n\n<Subhead> Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2\n\nPCH2B ({612389}) is caused by mutation in the TSEN2 gene ({608753}) on chromosome 3p25, and PCH2C ({612390}) is caused by mutation in the TSEN34 gene ({608754}) on chromosome 19q13. PCH2D ({613811}) is caused by mutation in the SEPSECS gene ({613009}) on chromosome 4p15. PCH2E ({615851}) is caused by mutation in the VPS53 gene ({615850}) on chromosome 17p13. PCH2F ({617026}) is caused by mutation in the TSEN15 gene ({608756}) on chromosome 1q25. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing.",[277470],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:15245,Active,Orphanet+OMIM,OMIM:277580,Subtype of disorder,[Disease subtype],"Waardenburg syndrome, type 4a","[ws4, Waardenburg syndrome, type iva, waardenburg syndrome with hirschsprung disease, type 4a, waardenburg-shah syndrome, shah-waardenburg syndrome]","Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by {23:Read and Newton, 1997} and {21:Pingault et al., 2010}). WS type 4A is caused by mutation in the EDNRB gene ({131244}).\n\n<Subhead> Clinical Variability of Waardenburg Syndrome Types 1-4\n\nWaardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; {193500}) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3; {148820}) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by {23:Read and Newton, 1997} and {21:Pingault et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Waardenburg Syndrome Type 4\n\nWaardenburg syndrome type 4 is genetically heterogeneous. WS4B ({613265}) is caused by mutation in the EDN3 gene ({131242}) on chromosome 20q13, and WS4C ({613266}) is caused by mutation in the SOX10 gene ({602229}) on chromosome 22q13.",[277580],[897],[Waardenburg-Shah syndrome],[5524],,,,, +GARD:15246,Active,Orphanet+OMIM,OMIM:277600,Subtype of disorder,[Malformation syndrome subtype],Weill-marchesani syndrome 1,"[mesodermal dysmorphodystrophy, congenital, spherophakia-brachymorphia syndrome, Weill-marchesani syndrome, autosomal recessive]","Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by {1:Dagoneau et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Weill-Marchesani Syndrome\n\nA phenotypically similar, autosomal dominant form of WMS (WMS2; {608328}) is caused by mutation in the FBN1 gene ({134797}) on chromosome 15q21. Autosomal recessive WMS3 ({614819}) is caused by mutation in the LTBP2 gene ({602091}) on chromosome 14q24. Autosomal recessive WMS4 ({613195}) is caused by mutation in the ADAMTS17 gene ({607511}) on chromosome 15q24.",[277600],[3449],[Weill-Marchesani syndrome],[4936],,,,, +GARD:15247,Active,Orphanet+OMIM,OMIM:278150,Subtype of disorder,[Disease subtype],Hypotrichosis 8,"[Hypotrichosis, localized, autosomal recessive 3]","Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood ({7:Pasternack et al., 2008}). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by {9:Schaffer et al., 2006}).\n\nWoolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by {8:Petukhova et al., 2009}). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair ({5:Khan et al., 2011}).\n\nWoolly hair is also a feature of several syndromes, such as Naxos disease ({601214}) and cardiofaciocutaneous syndrome ({115150}) ({8:Petukhova et al., 2009}), or the palmoplantar keratoderma and cardiomyopathy syndrome ({601214}) ({3:Carvajal-Huerta, 1998}).\n\n<Subhead> Genetic Heterogeneity of Hypotrichosis and Woolly Hair\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 ({605389}).\n\nFor a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6; {607903}).\n\nAnother form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2; {604379}) is caused by mutation in the LIPH gene ({607365}) and is allelic to autosomal recessive localized hypotrichosis (LAH2). ARWH3 ({616760}) is caused by mutation in the KRT25 gene ({616646}) on chromosome 17q21.\n\nAn autosomal dominant form of woolly hair with hypotrichosis (HYPT13; {615896}) is caused by mutation in the KRT71 gene ({608245}) on chromosome 12q13. Another autosomal dominant form of woolly hair (ADWH; {194300}) with normal hair density is caused by mutation in the KRT74 gene ({608248}) on chromosome 12q13, and is allelic to an autosomal dominant form of hypotrichosis simplex of the scalp (HYPT3; {613981}) as well as an ectodermal dysplasia of the hair/nail type (ECTD7; {614929}).",[278150],"[170, 55654]","[Hypotrichosis simplex, Woolly hair]","[9170, 5597]",,,,, +GARD:15248,Active,Orphanet+OMIM,OMIM:615511,Subtype of disorder,[Disease subtype],Myopathy due to myoadenylate deaminase deficiency,"[myoadenylate deaminase deficiency, myopathy due to, ampd1 deficiency, Adenosine monophosphate deaminase-1 deficiency, myopathy due to]","Myoadenylate deaminase deficiency (MMDD) is an autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia. However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., {22:Verzijl et al., 1998}) that AMPD1 deficiency may be a harmless entity (summary by {2:Castro-Gago et al., 2011}).\n\n{7:Genetta et al. (2001)} stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent ({15:Sabina et al., 1989}). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to {7:Genetta et al. (2001)}.",[615511],[45],[Adenosine monophosphate deaminase deficiency],[547],,,,, +GARD:15249,Active,Orphanet+OMIM,OMIM:278850,Subtype of disorder,[Malformation syndrome subtype],"46,xx sex reversal 2",,,[278850],[393],"[46,XX testicular disorder of sex development]",[399],,,,, +GARD:1525,Active,Orphanet,ORPHA:3177,Disorder,[Malformation syndrome],Spinocerebellar degeneration-corneal dystrophy syndrome,[Der Kaloustian-Jarudi-Khoury syndrome],"A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.",[271310],,,,,Spinocerebellar degeneration and corneal dystrophy,TRUE,FALSE,Active +GARD:15250,Active,Orphanet+OMIM,OMIM:300001,Subtype of disorder,[Disease subtype],"Ichthyosis, x-linked, without steroid sulfatase deficiency",,,[300001],[461],[Recessive X-linked ichthyosis],[7904],,,,, +GARD:15251,Active,Orphanet+OMIM,OMIM:300071,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 2a","[night blindness, congenital stationary, type 2, Csnb, incomplete, x-linked]",,[300071],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15253,Active,Orphanet+OMIM,OMIM:300147,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, x-linked 1",,"For a general discussion of hereditary prostate cancer, see {176807}.",[300147],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15254,Active,Orphanet+OMIM,OMIM:300260,Subtype of disorder,[Malformation syndrome subtype],"Intellectual developmental disorder, x-linked, syndromic, lubs type","[mental retardation, x-linked, with recurrent respiratory infections, Lubs x-linked mental retardation syndrome, mecp2 duplication syndrome]","X-linked Lubs-type syndromic intellectual developmental disorder (MRXSL) is a neurodevelopmental disorder characterized by severely to profoundly impaired intellectual development, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections. Only males are affected, although female carriers may have some mild neuropsychiatric features, such as anxiety. Submicroscopic Xq28 duplications encompassing MECP2 are considered nonrecurrent events, because the breakpoint locations and rearrangement sizes vary among affected individuals (summary by {11:Ramocki et al., 2010}).",[300260],[1762],[Proximal Xq28 duplication syndrome],[9781],,,,, +GARD:15255,Active,Orphanet,ORPHA:172,Disorder,[Disease],Progressive familial intrahepatic cholestasis,[PFIC],Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.,"[615878, 601847, 602347, 211600]",,,,,,,, +GARD:15256,Active,Orphanet+OMIM,OMIM:300388,Subtype of disorder,[Clinical subtype],"Polymicrogyria, bilateral perisylvian, x-linked",,"Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding ({10:Kuzniecky et al., 1993}).\n\nPMG may be a feature of other conditions as well (see, e.g., {300643}).",[300388],[98889],[Bilateral perisylvian polymicrogyria],[6011],,,,, +GARD:15257,Active,Orphanet+OMIM,OMIM:300514,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group b","[Facb, fanconi pancytopenia, type 2]","Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nPatients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H (see {314390}), for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia ({9:McCauley et al., 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[300514],[84],[Fanconi anemia],[6425],,,,, +GARD:15258,Active,Orphanet+OMIM,OMIM:300580,Subtype of disorder,[Disease subtype],"Myopathy, congenital, with fiber-type disproportion, x-linked",,"For a general phenotypic description of congenital fiber-type disproportion, see CFTD ({255310}).",[300580],[2020],[Congenital fiber-type disproportion myopathy],[6161],,,,, +GARD:15259,Active,Orphanet+OMIM,OMIM:300590,Subtype of disorder,[Malformation syndrome subtype],Cornelia de lange syndrome 2,"[Cornelia de lange syndrome, x-linked, cdls, x-linked]","Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene ({608667}) on chromosome 5p13 (CDLS1; {122470}) (summary by {3:Musio et al., 2006}, {1:Hoppman-Chaney et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.",[300590],[199],[Cornelia de Lange syndrome],[10109],,,,, +GARD:1526,Legacy,GARD,,,,,,,,,,,,Corneal crystals myopathy neuropathy,TRUE,FALSE,Active +GARD:15260,Active,Orphanet+OMIM,OMIM:300704,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, x-linked 2",,"For a general discussion of hereditary prostate cancer, see {176807}.",[300704],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15261,Active,Orphanet+OMIM,OMIM:300717,Subtype of disorder,[Disease subtype],"Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset",,"Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B; {300718}) (summary by {3:Liewluck et al., 2007} and {6:Shalaby et al., 2009}).",[300717],[97239],[Reducing body myopathy],[12162],,,,, +GARD:15262,Active,Orphanet+OMIM,OMIM:300718,Subtype of disorder,[Disease subtype],"Reducing body myopathy, x-linked 1b, with late childhood or adult onset",,"Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death (RBMX1A; {300717}), and a less severe form has onset in late childhood or adulthood (RBMX1B) (summary by {3:Liewluck et al., 2007} and {7:Shalaby et al., 2009}).",[300718],[97239],[Reducing body myopathy],[12162],,,,, +GARD:15263,Active,Orphanet+OMIM,OMIM:300770,Subtype of disorder,[Disease subtype],"Surfactant metabolism dysfunction, pulmonary, 4","[csf2ra deficiency, Pulmonary alveolar proteinosis, congenital, 4, pap due to csf2ra deficiency]","Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB ({138960}) expression. Acquired PAP ({610910}), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 ({138960}) ({1:Martinez-Moczygemba et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 ({265120}).",[300770],[264675],[Hereditary pulmonary alveolar proteinosis],[4582],,,,, +GARD:15264,Active,Orphanet+OMIM,OMIM:300799,Subtype of disorder,[Malformation syndrome subtype],"Intellectual developmental disorder, x-linked, syndromic, raymond type","[Mental retardation, x-linked, syndromic, raymond type]","Raymond-type X-linked syndromic intellectual developmental disorder (MRXSR) is characterized by mildly to severely impaired intellectual development with speech and language difficulties associated with variable additional features, including marfanoid habitus, epilepsy, facial dysmorphism, hypotonia, and behavioral problems (summary by {1:Baker et al., 2015} and {4:Schirwani et al., 2018}).",[300799],[776],[Lujan-Fryns syndrome],[3307],,,,, +GARD:15265,Active,Orphanet+OMIM,OMIM:300804,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 10,,"Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis ({2:Coene et al., 2009}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[300804],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:15266,Active,Orphanet+OMIM,OMIM:300815,Subtype of disorder,[Malformation syndrome subtype],Chromosome xq28 duplication syndrome,,,[300815],[1762],[Proximal Xq28 duplication syndrome],[9781],,,,, +GARD:15267,Active,Orphanet+OMIM,OMIM:300833,Subtype of disorder,[Malformation syndrome subtype],"46,xx sex reversal 3",,,[300833],[393],"[46,XX testicular disorder of sex development]",[399],,,,, +GARD:15268,Active,Orphanet+OMIM,OMIM:300834,Subtype of disorder,[Disease subtype],"Macular degeneration, x-linked atrophic",,,[300834],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15269,Active,Orphanet+OMIM,OMIM:300857,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia,,,[300857],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15270,Active,Orphanet+OMIM,OMIM:300867,Subtype of disorder,[Malformation syndrome subtype],Kabuki syndrome 2,,"Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy ({8:Niikawa et al., 1981}).\n\nFor a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 ({147920}).",[300867],[2322],[Kabuki syndrome],[6810],,,,, +GARD:15271,Active,Orphanet+OMIM,OMIM:300882,Subtype of disorder,[Malformation syndrome subtype],Cornelia de lange syndrome 5,,"Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene ({608667}) on chromosome 5p13 (CDLS1; {122470}), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene ({300040}) (CDLS2; {300590}) (summary by {7:Musio et al., 2006}, {4:Hoppman-Chaney et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.",[300882],[199],[Cornelia de Lange syndrome],[10109],,,,, +GARD:15272,Active,Orphanet+OMIM,OMIM:300887,Subtype of disorder,[Malformation syndrome subtype],Linear skin defects with multiple congenital anomalies 2,"[Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies]",,[300887],[2556],[Microphthalmia with linear skin defects syndrome],[3659],,,,, +GARD:15273,Active,Orphanet+OMIM,OMIM:300918,Subtype of disorder,[Disease subtype],"Olmsted syndrome, x-linked","[Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked]","X-linked Olmsted syndrome (OLMSX) is a rare keratinization disorder characterized by the combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis, and constriction of the digits (summary by {4:Yaghoobi et al., 2007}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Olmsted disease, see OLMS1 ({614594}).",[300918],[659],[Mutilating palmoplantar keratoderma with periorificial keratotic plaques],[4075],,,,, +GARD:15274,Active,Orphanet+OMIM,OMIM:300943,Subtype of disorder,[Disease subtype],"Pituitary adenoma 2, growth hormone-secreting","[Acromegaly due to pituitary adenoma 2, acromegaly, x-linked]",,[300943],[963],[Acromegaly],[5725],,,,, +GARD:15275,Active,Orphanet+OMIM,OMIM:300946,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 14 with mandibulofacial dysostosis,,,[300946],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15276,Active,Orphanet+OMIM,OMIM:300952,Subtype of disorder,[Malformation syndrome subtype],Linear skin defects with multiple congenital anomalies 3,[Linear skin defects with cardiomyopathy and other congenital anomalies],,[300952],[2556],[Microphthalmia with linear skin defects syndrome],[3659],,,,, +GARD:15277,Active,Orphanet+OMIM,OMIM:300953,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 5, nonphotosensitive",,"Trichothiodystrophy-5 (TTD5) is an X-linked disorder characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities (summary by {2:Mendelsohn et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 ({601675}).",[300953],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:15278,Active,Orphanet+OMIM,OMIM:300963,Subtype of disorder,[Malformation syndrome subtype],Ritscher-schinzel syndrome 2,,"Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by {1:Kolanczyk et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 ({220210}).",[300963],[7],[3C syndrome],[5666],,,,, +GARD:15279,Active,Orphanet+OMIM,OMIM:300985,Subtype of disorder,[Morphological anomaly subtype],"Vas deferens, congenital bilateral aplasia of, x-linked",,"Congenital bilateral absence of the vas deferens (CBAVD) is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD (see {277180}), mutations are identified in the CFTR gene ({602421}). The forms caused by mutations in the CFTR and ADGRG2 genes are clinically indistinguishable (summary by {1:Patat et al., 2016}).",[300985],[48],[Congenital bilateral absence of vas deferens],[5461],,,,, +GARD:1528,Legacy,GARD,,,,,,,,,,,,Corneal dystrophy ichthyosis microcephaly mental retardation,TRUE,FALSE,Retired +GARD:15280,Active,Orphanet+OMIM,OMIM:300991,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 36, x-linked","[Ciliary dyskinesia, primary, 36, with or without situs inversus]","CILD36 is an X-linked recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects due to ciliary dysfunction at the embryonic node (summary by {2:Paff et al., 2017}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[300991],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15281,Active,Orphanet+OMIM,OMIM:301006,Subtype of disorder,[Malformation syndrome subtype],"Galloway-mowat syndrome 2, x-linked",,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by {1:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[301006],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:15282,Active,Orphanet+OMIM,OMIM:301008,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, x-linked, syndromic, houge type","[Mental retardation, x-linked, syndromic, houge type]","The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by {2:Damiano et al., 2017}).",[301008],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:15283,Active,Orphanet+OMIM,OMIM:301020,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 12",,,[301020],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:15284,Active,Orphanet+OMIM,OMIM:301021,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 30",,,[301021],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:15285,Active,Orphanet+OMIM,OMIM:301028,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 20",,"Nephrotic syndrome type 20 (NPHS20) is an X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first decade of life in affected males. The course of the disorder is highly variable: some patients progress to end-stage kidney disease and may die in childhood without renal transplantation, whereas others have milder symptoms and maintain normal renal function. Carrier females may have a milder disorder with proteinuria or may be unaffected. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) and effacement of podocyte foot processes (summary by {1:Dorval et al., 2019} and {2:Kampf et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[301028],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15286,Active,Orphanet+OMIM,OMIM:301058,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 90,,"Developmental and epileptic encephalopathy-90 (DEE90) is an X-linked neurologic disorder characterized by onset of refractory seizures in the first days or months of life. Although most patients have focal seizures associated with oromotor automatisms and apnea, various seizure types may occur, including epileptic spasms, generalized tonic-clonic, and absence. EEG shows multifocal discharges; hypsarrhythmia, intermittent burst suppression, and slow spike-wave background resembling Lennox-Gastaut syndrome may also be observed. Affected individuals have global developmental delay with variable severity, but it is usually profound or severe. Some are unable to walk or speak, whereas others may achieve some milestones and show autistic features (summary by {1:Fry et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[301058],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:15287,Active,Orphanet+OMIM,OMIM:302045,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 3b","[Cardiomyopathy, dilated, x-linked]",,[302045],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15289,Active,Orphanet+OMIM,OMIM:304800,Subtype of disorder,[Disease subtype],"Diabetes insipidus, nephrogenic, 1, x-linked","[Ndi, diabetes insipidus, nephrogenic, type i]","Nephrogenic diabetes insipidus (NDI) is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; {192340}). Approximately 90% of patients are males with the X-linked recessive form (type I; NDI1), which is caused by a defect in the vasopressin V2 receptor in renal collecting duct cells. The remaining 10% of patients have autosomal NDI (type II; NDI2, {125800}), which is caused by mutations in the gene encoding the aquaporin-2 water channel (AQP2; {107777}) on chromosome 12q13 ({24:Morello and Bichet, 2001}).\n\nNeurogenic, or central, diabetes insipidus ({125700}) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.",[304800],[223],[Nephrogenic diabetes insipidus],[7178],,,,, +GARD:1529,Active,Orphanet,ORPHA:1490,Disorder,[Malformation syndrome],Corneal dystrophy-perceptive deafness syndrome,"[CDPD, Corneal dystrophy with progressive deafness, Corneal dystrophy with progressive hearing loss, Corneal dystrophy-perceptive hearing loss syndrome, Harboyan syndrome]","Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss.",[217400],,,,,Corneal dystrophy and perceptive deafness,TRUE,FALSE,Active +GARD:15290,Active,Orphanet+OMIM,OMIM:304950,Subtype of disorder,[Disease subtype],"Dyggve-melchior-clausen syndrome, x-linked",,"{2:Yunis et al. (1980)} described a Colombian family in which 10 males in 3 generations, in a typical X-linked recessive pedigree pattern, had the Dyggve-Melchior-Clausen syndrome. The affected males varied in age from 13 to 15 years. Normal intelligence was another difference from the autosomal recessive form. The authors cited some reported families that are equally consistent with X-linked or autosomal recessive inheritance ({223800}). {1:Spranger (1981)} suggested that the disorder described by {2:Yunis et al. (1980)} was in fact X-linked SED tarda ({313400}).",[304950],[239],[Dyggve-Melchior-Clausen disease],[6295],,,,, +GARD:15291,Active,Orphanet+OMIM,OMIM:305350,Subtype of disorder,[Disease subtype],"Epidermodysplasia verruciformis, x-linked",,"{1:Androphy et al. (1985)} described a kindred in which a 56-year-old man had EDV, none of his 5 sons or 5 daughters had EDV, and 4 of his grandsons (through 2 daughters) had EDV. All were infected with human papillomavirus 3 (HPV 3) and with HPV 8. The proband, who had onset of warts at age 5 years with no regression over the next 50 years and with extension to cover about 10% of his skin surface, had squamous carcinoma arising on sun-exposed areas of the face, ears, neck, back, arms, and hands over the previous 25 years. Other pedigrees have suggested autosomal inheritance although whether dominant as suggested by some families or recessive as suggested by parental consanguinity (see {226400}) is not certain.",[305350],[302],[Epidermodysplasia verruciformis],[6357],,,,, +GARD:15292,Active,Orphanet+OMIM,OMIM:305390,Subtype of disorder,[Disease subtype],"Exudative vitreoretinopathy 2, x-linked","[Exudative vitreoretinopathy, familial, 2, evrx, fevr, x-linked]","Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {9:Poulter et al., 2010}).\n\nFor a discussion of genetic heterogeneity of FEVR, see EVR1 ({133780}).",[305390],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:15293,Active,Orphanet+OMIM,OMIM:305620,Subtype of disorder,[Disease subtype],Frontometaphyseal dysplasia 1,[Fmd],"Frontometaphyseal dysplasia-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; {311300}), otopalatodigital syndrome-2 (OPD2; {304120}), and Melnick-Needles syndrome (MNS; {309350}), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD1 is characterized by a generalized skeletal dysplasia, deafness, and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by {17:Robertson, 2005}). {22:Verloes et al. (2000)} suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'\n\n<Subhead> Genetic Heterogeneity of Frontometaphyseal Dysplasia\n\nFrontometaphyseal dysplasia-2 (FMD2; {617137}) is caused by mutation in the MAP3K7 gene ({602614}) on chromosome 6q15.",[305620],[1826],[Frontometaphyseal dysplasia],[826],,,,, +GARD:15294,Active,Orphanet+OMIM,OMIM:306400,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, x-linked","[Cgd, cytochrome b-negative granulomatous disease, chronic, x-linked, chronic granulomatous disease, x-linked]","X-linked chronic granulomatous disease (CGDX) is a primary immunodeficiency characterized by onset of symptoms in the first months or years of life. Patients present with recurrent infections, lymphadenopathy, inflammatory bowel disease, granulomatous colitis, fever, skin infections, osteomyelitis, and/or abscesses. Infectious organisms usually include Staphylococcus aureus, Burkholderia cepacia, Serrata, Salmonella, mycobacteria, and fungi. The disorder results from impaired function of the phagocytic NADPH oxidase complex, which generates the microbiocidal respiratory burst. Laboratory studies using the DHR assay show impaired phagocytic production of reactive oxygen species in response to PMA stimulation (reviews by {32:Dinauer et al., 2001} and {57:Johnston, 2001}; summary by {102:Song et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Chronic Granulomatous Disease\n\nChronic granulomatous disease can be caused by mutation in several genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also CGD1 ({233700}), caused by mutation in the NCF1 gene ({608512}) on chromosome 7q11; CGD2 ({233710}), caused by mutation in the NCF2 gene ({608515}) on chromosome 1q25; CGD3 ({613960}), caused by mutation in the NCF4 gene ({601488}) on chromosome 22q13; CGD4 ({233690}), caused by mutation in the CYBA gene ({608508}) on chromosome 16q24; and CGD5 ({618935}) caused by mutation in the CYBC1 gene ({618334}) on chromosome 17q25.\n\nA similar syndrome, termed neutrophil immunodeficiency syndrome ({608203}), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 ({602049}).\n\n{90:Roos et al. (2021)} provided a review of autosomal forms of chronic granulomatous disease.",[306400],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15295,Active,Orphanet+OMIM,OMIM:306950,Subtype of disorder,[Morphological anomaly subtype],"Hernia, anterior diaphragmatic",,"{2:Lilly et al. (1974)} described a family in which 2 brothers and their maternal uncle had congenital, anterior diaphragmatic hernia. Two of the 3 died in infancy of complications. {1:Crane (1979)} favored multifactorial inheritance with high male:female sex ratio. Twelve multiplex families were analyzed.",[306950],[2140],[Congenital diaphragmatic hernia],[1481],,,,, +GARD:15296,Active,Orphanet+OMIM,OMIM:307830,Subtype of disorder,[Malformation syndrome subtype],"Hypouricemia, familial renal, due to tubular hypersecretion",,"Probenecid and pyrazinamide are the drugs most widely used in the evaluation of the renal handling of urate. By application of these drugs, three types of tubular defects responsible for renal hypouricemia have been identified ({1:De Vries and Sperling, 1979}). They include presecretory, postsecretory, and combined urate reabsorption in the kidney (see {220150}). A fourth type of renal hypouricemia was described by {5:Shichiri et al. (1982)}, {2:Dumont and Decaux (1983)}, and {4:Sanz et al. (1983)}. In this type of hypouricemia, responses of renal urate clearance to probenecid or pyrazinamide are normal, sometimes even exaggerated, and the hypouricemia appears to be due to tubular hypersecretion. {3:Nakajima et al. (1987)} described the familial occurrence of this form. Two brothers had hypouricemia and their mother had serum urate levels in the low normal range. Data were not provided on the father. It is noteworthy that the proband was a 36-year-old carpenter with eunuchoidism and a 48,XXYY karyotype. His brother and mother had normal karyotypes.",[307830],[94088],[Hereditary renal hypouricemia],[9496],,,,, +GARD:15297,Active,Orphanet+OMIM,OMIM:308205,Subtype of disorder,[Disease subtype],"Ifap syndrome 1, with or without bresheck syndrome","[Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia]","The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by {13:Naiki et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of IFAP Syndrome\n\nIFAP syndrome-2 (IFAP2; {619016}) is caused by heterozygous mutation in the SREBF1 gene ({184756}) on chromosome 17p11.",[308205],[2273],[Ichthyosis follicularis-alopecia-photophobia syndrome],[2952],,,,, +GARD:15298,Active,Orphanet+OMIM,OMIM:308350,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 1,"[xmesid, ohtahara syndrome, x-linked, west syndrome, x-linked, infantile epileptic-dyskinetic encephalopathy, infantile spasm syndrome, x-linked 1, Epileptic encephalopathy, early infantile, 1]","Developmental and epileptic encephalopathy-1 (DEE1) is a severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Approximately 75% of DEE1 patients progress to tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG ({15:Kato et al., 2007}).\n\nDEE1 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; {300215}) to Proud syndrome ({300004}) to infantile spasms without brain malformations (DEE) to syndromic ({309510}) and nonsyndromic ({300419}) mental retardation. Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected ({14:Kato et al., 2004}; {25:Wallerstein et al., 2008}).\n\n<Subhead> Reviews\n\n{5:Deprez et al. (2009)} reviewed the genetics of epilepsy syndromes starting in the first year of life and included a diagnostic algorithm.\n\n<Subhead> Genetic Heterogeneity of Developmental and Epileptic Encephalopathy\n\nAlso see DEE2 ({300672}), caused by mutation in the CDKL5 gene ({300203}); DEE3 ({609304}), caused by mutation in the SLC25A22 gene ({609302}); DEE4 ({612164}), caused by mutation in the STXBP1 gene ({602926}); DEE5 ({613477}), caused by mutation in the SPTAN1 gene ({182810}); DEE6A ({607208}), also known as Dravet syndrome, caused by mutation in the SCN1A gene ({182389}); DEE6B ({619317}), also caused by mutation in the SCN1A gene; DEE7 ({613720}), caused by mutation in the KCNQ2 gene ({602235}); DEE8 ({300607}), caused by mutation in the ARHGEF9 gene ({300429}); DEE9 ({300088}), caused by mutation in the PCDH19 gene ({300460}); DEE10 ({613402}), caused by mutation in the PNKP gene ({605610}); DEE11 ({613721}), caused by mutation in the SCN2A gene ({182390}); DEE12 ({613722}), caused by mutation in the PLCB1 gene ({607120}); DEE13 ({614558}), caused by mutation in the SCN8A gene ({600702}); DEE14 ({614959}), caused by mutation in the KCNT1 gene ({608167}); DEE15 ({615006}), caused by mutation in the ST3GAL3 gene ({606494}); DEE16 ({615338}), caused by mutation in the TBC1D24 gene ({613577}); DEE17 ({615473}), caused by mutation in the GNAO1 gene ({139311}); DEE18 ({615476}), caused by mutation in the SZT2 gene ({615463}); DEE19 ({615744}), caused by mutation in the GABRA1 gene ({137160}); DEE20 ({300868}), caused by mutation in the PIGA gene ({311770}); DEE21 ({615833}), caused by mutation in the NECAP1 gene ({611623}); DEE22 ({300896}), caused by mutation in the SLC35A2 gene ({314375}); DEE23 ({615859}), caused by mutation in the DOCK7 gene ({615730}); DEE24 ({615871}), caused by mutation in the HCN1 gene ({602780}); DEE25 ({615905}), caused by mutation in the SLC13A5 gene ({608305}); DEE26 ({616056}), caused by mutation in the KCNB1 gene ({600397}); DEE27 ({616139}), caused by mutation in the GRIN2B gene ({138252}); DEE28 ({616211}), caused by mutation in the WWOX gene ({605131}); DEE29 ({616339}), caused by mutation in the AARS gene ({601065}); DEE30 ({616341}), caused by mutation in the SIK1 gene ({605705}); DEE31 ({616346}), caused by mutation in the DNM1 gene ({602377}); DEE32 ({616366}), caused by mutation in the KCNA2 gene ({176262}); DEE33 ({616409}), caused by mutation in the EEF1A2 gene ({602959}); DEE34 ({616645}), caused by mutation in the SLC12A5 gene ({606726}); DEE35 ({616647}), caused by mutation in the ITPA gene ({147520}); DEE36 ({300884}), caused by mutation in the ALG13 gene ({300776}); DEE37 ({616981}), caused by mutation in the FRRS1L gene ({604574}); DEE38 ({617020}), caused by mutation in the ARV1 gene ({611647}); DEE39 ({612949}), caused by mutation in the SLC25A12 gene ({603667}); DEE40 ({617065}), caused by mutation in the GUF1 gene ({617064}); DEE41 ({617105}), caused by mutation in the SLC1A2 gene ({600300}); DEE42 ({617106}), caused by mutation in the CACNA1A gene ({601011}); DEE43 ({617113}), caused by mutation in the GABRB3 gene ({137192}); DEE44 ({617132}), caused by mutation in the UBA5 gene ({610552}); DEE45 ({617153}), caused by mutation in the GABRB1 gene ({137190}); DEE46 ({617162}), caused by mutation in the GRIN2D gene ({602717}); DEE47 ({617166}), caused by mutation in the FGF12 gene ({601513}); DEE48 ({617276}), caused by mutation in the AP3B2 gene ({602166}); DEE49 ({617281}), caused by mutation in the DENND5A gene ({617278}); DEE50 ({616457}) caused by mutation in the CAD gene ({114010}); DEE51 ({617339}), caused by mutation in the MDH2 gene ({154100}); DEE52 ({617350}), caused by mutation in the SCN1B gene ({600235}); DEE53 ({617389}), caused by mutation in the SYNJ1 gene ({604297}); DEE54 ({617391}), caused by mutation in the HNRNPU gene ({602869}); DEE55 ({617599}), caused by mutation in the PIGP gene ({605938}); DEE56 ({617665}), caused by mutation in the YWHAG gene ({605356}); DEE57 ({617771}), caused by mutation in the KCNT2 gene ({610044}); DEE58 ({617830}), caused by mutation in the NTRK2 gene ({600456}); DEE59 ({617904}), caused by mutation in the GABBR2 gene ({607340}); DEE60 ({617929}), caused by mutation in the CNPY3 gene ({610774}); DEE61 ({617933}), caused by mutation in the ADAM22 gene ({603709}); DEE62 ({617938}), caused by mutation in the SCN3A gene ({182391}); DEE63 ({617976}), caused by mutation in the CPLX1 gene ({605032}); DEE64 ({618004}), caused by mutation in the RHOBTB2 gene ({607352}); DEE65 ({618008}), caused by mutation in the CYFIP2 gene ({606323}); DEE66 ({618067}), caused by mutation in the PACS2 gene ({610423}); DEE67 ({618141}), caused by mutation in the CUX2 gene ({610648}); DEE68 ({618201}), caused by mutation in the TRAK1 gene ({608112}); DEE69 ({618285}), caused by mutation in the CACNA1E gene ({601013}); DEE70 ({618298}) caused by mutation in the PHACTR1 gene ({608723}); DEE71 ({618328}), caused by mutation in the GLS gene ({138280}); DEE72 ({618374}), caused by mutation in the NEUROD2 gene ({601725}); DEE73 ({618379}), caused by mutation in the RNF13 gene ({609247}); DEE74 ({618396}), caused by mutation in the GABRG2 gene ({137164}); DEE75 ({618437}), caused by mutation in the PARS2 gene ({612036}); DEE76 ({618468}), caused by mutation in the ACTL6B gene ({612458}); DEE77 ({618548}), caused by mutation in the PIGQ gene ({605754}); DEE78 ({618557}), caused by mutation in the GABRA2 gene ({137140}); DEE79 ({618559}), caused by mutation in the GABRA5 gene ({137142}); DEE80 ({618580}), caused by mutation in the PIGB gene ({604122}); DEE81 ({618663}), caused by mutation in the DMXL2 gene ({612186}); DEE82 ({618721}), caused by mutation in the GOT2 gene ({138150}); DEE83 ({618744}), caused by mutation in the UGP2 gene ({191760}); DEE84 ({618792}), caused by mutation in the UGDH gene ({603370}); DEE85 ({301044}), caused by mutation in the SMC1A gene ({300040}); DEE86 ({618910}), caused by mutation in the DALRD3 gene ({618904}); DEE87 ({618916}), caused by mutation in the CDK19 gene ({614720}); DEE88 ({618959}), caused by mutation in the MDH1 gene ({152400}); DEE89 ({619124}), caused by mutation in the GAD1 gene ({605363}); DEE90 ({301058}), caused by mutation in the FGF13 gene ({300070}); DEE91 ({617711}), caused by mutation in the PPP3CA gene ({114105}); DEE92 ({617829}), caused by mutation in the GABRB2 gene ({600232}); DEE93 ({618012}), caused by mutation in the ATP6V1A gene ({607027}); DEE94 ({615369}), caused by mutation in the CHD2 gene ({602119}); DEE95 ({618143}), caused by mutation in the PIGS gene ({610271}); DEE96 ({619340}), caused by mutation in the NSF gene ({601633}); DEE97 ({619561}), caused by mutation in the iCELF2 gene ({602538}); DEE98 ({619605}), caused by mutation in the ATP1A2 gene ({182340}); DEE99 ({619606}), caused by mutation in the ATP1A3 gene ({182350}); DEE100 ({619777}), caused by mutation in the FBXO28 gene ({609100}); DEE101 ({619814}), caused by mutation in the GRIN1 gene ({138249}); DEE102 ({619881}), caused by mutation in the SLC38A3 gene ({604437}); and DEE103 ({619913}), caused by mutation in the KCNC2 gene ({176256}).\n\nThe phenotype is also observed in other genetic disorders, including GLUT1 deficiency syndrome ({606777}); glycine encephalopathy ({605899}); Aicardi-Goutieres syndrome ({225750}); and in males with MECP2 mutations ({300673}), among others.\n\nFor associations pending confirmation, see MOLECULAR GENETICS.",[308350],"[1934, 3451]","[Early infantile epileptic encephalopathy, Infantile spasms syndrome]","[7887, 9255]",,,,, +GARD:15299,Active,Orphanet+OMIM,OMIM:308800,Subtype of disorder,[Disease subtype],"Keratosis follicularis spinulosa decalvans, x-linked",[Keratosis follicularis spinulosa decalvans cum ophiasi],"Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by {2:Castori et al., 2009}).\n\nAutosomal dominant inheritance has also been reported (KFSD; {612843}).\n\nThe term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair.",[308800],[2340],[Keratosis follicularis spinulosa decalvans],[6829],,,,, +GARD:153,Legacy,GARD,,,,,,,,,,,,Sanderson Fraser syndrome,TRUE,FALSE,Active +GARD:1530,Legacy,GARD,,,,,,,,,,,,Corneal dystrophy pigmentary anomaly malabsorption,TRUE,FALSE,Active +GARD:15300,Active,Orphanet+OMIM,OMIM:308905,Subtype of disorder,[Disease subtype],"Leber hereditary optic neuropathy, modifier of","[lhon, modifier of, Leber optic atrophy, susceptibility to]","Leber optic atrophy, also known as Leber hereditary optic atrophy (LHON; {535000}), is characterized by bilateral, painless, subacute central vision loss in young adults resulting from primary degeneration of retinal ganglion cells (RGCs) accompanied by ascending optic atrophy (summary by {19:Yu et al., 2020}). Variation in mitochondrial DNA (mtDNA) contributes to the pathogenesis of the disease. Modifier of Leber optic atrophy (LOAM) exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by the LHON11778A mutation in the MTND4 gene ({516003.0001}) alone, due to the action of mutation in PRICKLE3 as a modifier of expression of the disease.\n\nFor a general description and discussion of genetic heterogeneity of Leber optic atrophy, see {535000}.",[308905],[104],[Leber hereditary optic neuropathy],[6870],,,,, +GARD:15301,Active,Orphanet+OMIM,OMIM:308990,Subtype of disorder,[Clinical subtype],"Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis",,"Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' ({11:Scheinman, 1998}; {3:Gambaro et al., 2004}). For a general discussion of Dent disease, see {300009}.",[308990],[93622],[Dent disease type 1],[1804],,,,, +GARD:15302,Active,Orphanet+OMIM,OMIM:309120,Subtype of disorder,[Disease subtype],"Spermatogenic failure, x-linked, 2",[Male infertility from defect in meiosis],,[309120],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15304,Active,Orphanet+OMIM,OMIM:309800,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, syndromic 1","[microphthalmia, syndromic 4, formerly, maa, formerly, anop1, formerly, lenz dysplasia, Lenz microphthalmia syndrome]","Syndromic microphthalmia-1 (MCOPS1) is an X-linked disorder characterized by unilateral or bilateral microphthalmia or anophthalmia. The most common extraocular features are impaired intellectual development, large and dysplastic ears with skin tags, high-arched or cleft palate, dental anomalies, urogenital anomalies, and skeletal manifestations including lordosis or scoliosis, clinodactyly, syndactyly, brachydactyly, and abnormal thumbs. There is considerable variation in severity among reported families ({17:Slavotinek et al., 2005}).\n\n<Subhead> Genetic Heterogeneity\n\nOther forms of syndromic microphthalmia include MCOPS2 ({300166}), caused by the BCOR gene ({300485}) on chromosome Xp11; MCOPS3 ({206900}), caused by mutation in the SOX2 gene ({184429}) on chromosome 3q26; MCOPS5 ({610125}), caused by mutation in the OTX2 gene ({600037}) on chromosome 14q22; MCOPS6 ({607932}), caused by mutation in the BMP4 gene ({112262}) on chromosome 14q22; MCOPS7 ({309801}), caused by mutation in the HCCS gene ({300056}) on chromosome Xp22; MCOPS9 ({601186}), caused by mutation in the STRA6 gene ({610745}) on chromosome 15q24; MCOPS11 ({614402}), caused by mutation in the VAX1 gene ({604294}) on chromosome 10q25; MCOPS12 ({615524}), caused by mutation in the RARB gene ({180220}) on chromosome 3p24; MCOPS13 ({300915}), caused by mutation in the HMGB3 gene ({300193}) on chromosome Xq28; MCOPS14 ({615877}), caused by mutation in the MAB21L2 gene ({604357}) on chromosome 4q31; and MCOPS15 ({615145}), caused by mutation in the TENM3 gene ({610083}) on chromosome 4q.\n\nA form of syndromic microphthalmia also maps to chromosome 6q21 (MCOPS8; {601349}). A form of microphthalmia associated with progressive brain atrophy has been reported (MCOPS10; {611222}).\n\nA form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1.\n\n{19:Williamson and FitzPatrick (2014)} reviewed genes associated with microphthalmia, anophthalmia, and/or coloboma phenotypes. They noted that when exon sequencing is combined with detection of gene deletions via aCGH and high-resolution analysis of intragenic microdeletions and microduplications, approximately 75% of cases of bilateral anophthalmia or severe microphthalmia are found to carry heterozygous mutations in the SOX2 ({184429}) or OTX2 ({600037}) genes, or biallelic mutations in the STRA6 gene ({610745}) (see also MCOPS5, {610125} and MCOPS9, {601186}).",[309800],[568],"[Microphthalmia, Lenz type]",[87],,,,, +GARD:15305,Active,Orphanet+OMIM,OMIM:310468,Subtype of disorder,[Clinical subtype],"Nephrolithiasis, x-linked recessive, with renal failure","[nephrolithiasis 1, Nephrolithiasis, x-linked recessive, type 1, urolithiasis, x-linked recessive, type 1]","X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' ({6:Scheinman, 1998}; {3:Gambaro et al., 2004}). For a general discussion of Dent disease, see {300009}.",[310468],[93622],[Dent disease type 1],[1804],,,,, +GARD:15306,Active,Orphanet+OMIM,OMIM:310500,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1a","[hemeralopia-myopia, myopia-night blindness, Csnb, complete, x-linked, night blindness, congenital stationary, with myopia]","Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of nonprogressive retinal disorders that can be characterized by impaired night vision, decreased visual acuity, nystagmus, myopia, and strabismus. CSNB can be classified into 2 groups based on electroretinography (ERG) findings: the Schubert-Bornschein type is characterized by an ERG in which the b-wave is smaller than the a-wave, whereas the Riggs type is defined by proportionally reduced a- and b-waves. In addition, Schubert-Bornschein CSNB is associated with decreased visual acuity, myopia, and nystagmus, whereas in Riggs CSNB patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by {33:Riazuddin et al., 2010}). Additionally, Schubert-Bornschein CSNB can be subdivided into 'complete' and 'incomplete' forms (summary by {33:Riazuddin et al., 2010}).\n\n{37:Van Genderen et al. (2009)} noted that standard flash ERG distinguishes a 'complete' form, also known as type 1 CSNB, from an 'incomplete' form, also known as type 2 CSNB (see CSNB2A, {300071}). The complete form is characterized by the complete absence of rod pathway function, whereas the incomplete form is due to impaired rod and cone pathway function. Complete CSNB results from postsynaptic defects in depolarizing or ON bipolar cell signaling, whereas the hyperpolarizing or OFF bipolar cell pathway is intact.\n\n{9:Bijveld et al. (2013)} noted that the term 'incomplete' CSNB refers to the less-impaired rod system function in CSNB2, whereas the more severely impaired cone system function results in a greater decrease in visual acuity, with a greater impact on a patient's daily life activities than the impairment in CSNB1. Thus, patients with so-called 'incomplete CSNB' actually experience more visual restrictions than those with 'complete CSNB,' which can be misleading to patients and their parents.\n\n<Subhead> Genetic Heterogeneity of Congenital Stationary Night Blindness\n\nAutosomal recessive forms of complete CSNB have been reported: CSNB1B ({257270}), caused by mutation in the GRM6 gene ({604096}); CSNB1C ({613216}), caused by mutation in the TRPM1 gene ({603576}); CSNB1D ({613830}), caused by mutation in the SLC24A1 gene ({603617}); and CSNB1E ({614565}), caused by mutation in the GPR179 gene ({614515}); CSNB1F ({615058}), caused by mutation in the LRIT3 gene ({615004}); CSNB1G ({139330}), caused by mutation in the GNAT1 gene ({139330}); and CSNB1H ({617024}), caused by mutation in the GNB3 gene ({139130}).\n\nAutosomal dominant forms of complete CSNB that have been reported include CSNBAD1 ({610445}), caused by mutation in the RHO gene ({180380}); CSNBAD2 ({163500}), caused by mutation in the PDE6B gene ({180072}); and CSNBAD3 ({610444}), caused by mutation in the GNAT1 gene ({139330}).\n\nIn addition, an X-linked recessive form of incomplete CSNB (CSNB2A; {300071}), caused by mutation in the CACNA1F gene ({300110}), has been reported.\n\nA form of autosomal recessive CSNB in which all other visual functions are normal is designated Oguchi disease: Oguchi type 1 ({258100}) is caused by mutation in the SAG gene ({181031}), and Oguchi type 2 ({613411}) is caused by mutation in the RHOK gene (GRK1; {180381}).\n\nIn 101 Dutch patients from 72 families diagnosed with CSNB, {9:Bijveld et al. (2013)} screened 6 known CSNB-associated genes and identified mutations in 94 patients. Of the 39 patients with CSNB1, 20 (51%) had mutations in the NYX gene, 10 (26%) in TRPM1, 4 in GRM6, and 2 in GPR179; no mutations were detected in 3 of these patients. Of the 62 patients diagnosed with CSNB2, 55 (89%) had mutations in the CACNA1F gene; no mutations were detected in 4 of these patients. {9:Bijveld et al. (2013)} stated that the electrophysiologic distinction between CSNB types 1 and 2 was thus confirmed by DNA analysis in 93% of the patients. In addition, 3 patients from the CSNB cohort, including 2 Dutch sibs originally reported by {22:Littink et al. (2009)}, were found to be homozygous for a nonsense mutation in the CABP4 gene and to exhibit a distinct phenotype that {22:Littink et al. (2009)} designated 'congenital cone-rod synaptic disorder' (CRSD; {610427}).",[310500],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15308,Active,Orphanet+OMIM,OMIM:313350,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 2,,"Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals ({3:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of split-hand/split-foot malformation, see SHFM1 ({183600}).",[313350],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15309,Active,Orphanet+OMIM,OMIM:314390,Subtype of disorder,[Malformation syndrome subtype],"Vacterl association, x-linked, with or without hydrocephalus","[Vacterl-h, x-linked]","VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see {192350}). Some patients may have hydrocephalus, which is referred to as VACTERL-H ({1:Briard et al., 1984}).",[314390],[3412],[VACTERL with hydrocephalus],[272],,,,, +GARD:1531,Active,Orphanet,ORPHA:3194,Disorder,[Malformation syndrome],Corneodermatoosseous syndrome,"[CDO syndrome, Stern-Lubinsky-Durrie syndrome]","A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.",[122440],,,,,Corneodermatoosseous syndrome,TRUE,FALSE,Active +GARD:15310,Active,Orphanet+OMIM,OMIM:400004,Subtype of disorder,[Disease subtype],"Retinitis pigmentosa, y-linked",,,[400004],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15311,Active,Orphanet+OMIM,OMIM:500001,Subtype of disorder,[Disease subtype],Leber optic atrophy and dystonia,"[Leber hereditary optic neuropathy with dystonia, marsden syndrome, dystonia, familial, with visual failure and striatal lucencies]",,[500001],[99718],[Leber plus disease],[8476],,,,, +GARD:15312,Active,Orphanet+OMIM,OMIM:500011,Subtype of disorder,[Disease subtype],"Myopathy, lactic acidosis, and sideroblastic anemia 3",,"MLASA3 is a severe mitochondrial disorder with early infantile presentation of transfusion-dependent sideroblastic anemia in the setting of failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay (summary by {1:Burrage et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of MLASA, see MLASA1 ({600462}).",[500011],[2598],[Mitochondrial myopathy and sideroblastic anemia],[3885],,,,, +GARD:15313,Active,Orphanet+OMIM,OMIM:598500,Subtype of disorder,[Disease subtype],"Wolfram syndrome, mitochondrial form","[didmoad syndrome, mitochondrial form, Diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form]",,[598500],[3463],[Wolfram syndrome],[7898],,,,, +GARD:15314,Active,Orphanet+OMIM,OMIM:600110,Subtype of disorder,[Disease subtype],Stargardt disease 3,"[Macular dystrophy with flecks, type 3, stargardt-like macular dystrophy, autosomal dominant]","Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects ({1:Bernstein et al., 2001}; {7:Maugeri et al., 2004}).",[600110],[827],[Stargardt disease],[181],,,,, +GARD:15315,Active,Orphanet+OMIM,OMIM:600155,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 2",,"The disorder described by {5:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[600155],[388],[Hirschsprung disease],[6660],,,,, +GARD:15316,Active,Orphanet+OMIM,OMIM:600156,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 5",,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[600156],[388],[Hirschsprung disease],[6660],,,,, +GARD:15317,Active,Orphanet+OMIM,OMIM:600416,Subtype of disorder,[Disease subtype],"Muscular dystrophy, scapulohumeral",,"{1:Jardine et al. (1994)} described 7 affected individuals, 3 men and 4 women, in a 2-generation family segregating a scapulohumeral muscular dystrophy. Weakness began in the shoulders between 12 and 40 years of age. There was no distal weakness in the upper or lower extremities and there were no sensory abnormalities. In several cases, there was marked asymmetry with weakness on the right side more than on the left. There was no demonstrable facial weakness in any of the affected individuals. Male-to-male transmission was not observed. There was only minimal elevation of creatine kinase in some individuals. Electromyography demonstrated low amplitude, short duration, and polyphasic units. Muscle biopsy demonstrated excessive variation of muscle fiber size and scattered fibers with internal nuclei, but there was no fiber type grouping on ATPase preparations. There were no contractures or dysarthria, distinguishing this syndrome from autosomal dominant limb-girdle dystrophy ({253600}) which typically begins with symptoms in the lower extremities. The absence of cardiomyopathy and contractures distinguished this disorder from Emery-Dreifuss muscular dystrophy ({310300}; {181350}). The existence of scapuloperoneal myopathy without contractures or cardiomyopathy as a separate condition from facioscapulohumeral dystrophy (FSHD; {158900}) has been debated. {1:Jardine et al. (1994)} pointed out the features of their cases were similar to those of FSHD except for the absence of facial weakness. Minimally affected patients with FSHD are best detected by the presence of facial weakness. In 1 large study of FSHD, the facial weakness was absent in only 2 of 113 individuals ({2:Lunt and Harper, 1991}). In the family of {1:Jardine et al. (1994)}, linkage analysis with markers D4S184, D4S139, and D4F104S1 yielded a maximum lod score of 1.61 at theta = 0.01. This suggested that the locus for scapulohumeral dystrophy may be the same as that for facioscapulohumeral dystrophy.",[600416],[269],[Facioscapulohumeral dystrophy],[9941],,,,, +GARD:15319,Active,Orphanet+OMIM,OMIM:600513,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 1",,"Autosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life ({9,8:Scheffer et al., 1994, 1995}). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families ({3:Hayman et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Nocturnal Frontal Lobe Epilepsy\n\nNocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 ({603204}), which maps to chromosome 15q24; ENFL3 ({605375}), caused by mutation in the CHRNB2 gene ({118507}) on chromosome 1q21; ENFL4 ({610353}), caused by mutation in the CHRNA2 gene ({118502}) on chromosome 8p21; and ENFL5 ({615005}), caused by mutation in the KCNT1 gene ({608167}) on chromosome 9q34.\n\nNocturnal frontal lobe seizures are also observed in some patients with familial focal epilepsy with variable foci (FFEVF; {604364}), caused by mutation in the DEPDC5 gene ({614191}) on chromosome 22q12.",[600513],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:1532,Legacy,GARD,,,,,,,,,,,,"Coronal synostosis, syndactyly and jejunal atresia",TRUE,FALSE,Active +GARD:15320,Active,Orphanet+OMIM,OMIM:600630,Subtype of disorder,[Disease subtype],Uv-sensitive syndrome 1,,"UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by {3:Horibata et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of UV-Sensitive Syndrome\n\nSee also UVSS2 ({614621}), caused by mutation in the ERCC8 gene ({609412}) on chromosome 5q12, and UVSS3 ({614640}), caused by mutation in the UVSSA gene ({614632}) on chromosome 4p16.",[600630],[178338],[UV-sensitive syndrome],[10947],,,,, +GARD:15321,Active,Orphanet+OMIM,OMIM:600638,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement",[Feom3 locus],"Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 ({135700}). CFEOM2 ({602078}) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by {9:Yamada et al., 2004} and {4:Heidary et al., 2008}).\n\n{8:Yamada et al. (2003)} concluded that CFEOM3 is a relatively rare form of CFEOM.\n\n<Subhead> Genetic Heterogeneity of CFEOM3\n\nThe CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B ({135700}), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C ({609384}), which maps to chromosome 13q.",[600638],[45358],[Congenital fibrosis of extraocular muscles],[12590],,,,, +GARD:15322,Active,Orphanet+OMIM,OMIM:600795,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 7,"[Amyotrophic lateral sclerosis 17, formerly, frontotemporal dementia, chromosome 3-linked, amyotrophic lateral sclerosis, chmp2b-related]","Frontotemporal dementia and/or amyotrophic lateral sclerosis-7 (FTDALS7) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD in adulthood. Some patients have ALS, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency, whereas others have FTD, manifest as behavioral and personality changes, memory loss, cognitive decline, and disinhibition. A few patients may have both phenotypes. Pathology typically shows UBB ({191339}), p62/sequestosome (SQSTM1; {601530}), and TDP43 ({605078})-immunoreactive intraneuronal inclusions (summary by {1:Brown et al., 1995} and {4:Cox et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[600795],"[275864, 803]","[Behavioral variant of frontotemporal dementia, Amyotrophic lateral sclerosis]","[7392, 5786]",,,,, +GARD:15323,Active,Orphanet+OMIM,OMIM:600884,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1b",,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[600884],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15324,Active,Orphanet+OMIM,OMIM:600901,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group e",[Face],"Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by {2:de Winter et al., 2000}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[600901],[84],[Fanconi anemia],[6425],,,,, +GARD:15325,Active,Orphanet+OMIM,OMIM:600903,Subtype of disorder,[Disease subtype],"Wiskott-aldrich syndrome, autosomal dominant",,,[600903],[906],[Wiskott-Aldrich syndrome],[7895],,,,, +GARD:15326,Active,Orphanet+OMIM,OMIM:600995,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 2","[Nephrotic syndrome, steroid-resistant, autosomal recessive]","Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by {6:Fuchshuber et al., 1996}). Some patients show later onset of the disorder ({13:Tsukaguchi et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300}).",[600995],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15327,Active,Orphanet+OMIM,OMIM:601202,Subtype of disorder,[Clinical subtype],Cataract 24,,"Anterior polar cataracts are small opacities on the anterior surface of the lens. They usually do not interfere with vision ({3:Moross et al., 1984}).\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Anterior Polar, 2; CTAA2.'",[601202],[98988],[Early-onset anterior polar cataract],[1140],,,,, +GARD:15328,Active,Orphanet+OMIM,OMIM:601363,Subtype of disorder,[Disease subtype],Wilms tumor 4,,"For a general phenotypic description and discussion of genetic heterogeneity of Wilms tumor, see WT1 ({194070}).",[601363],[654],[Nephroblastoma],[7892],,,,, +GARD:15329,Active,Orphanet+OMIM,OMIM:601399,Subtype of disorder,[Disease subtype],"Platelet disorder, familial, with associated myeloid malignancy","[Platelet disorder, aspirin-like, thrombocytopenia, familial, with propensity to acute myelogenous leukemia]",,[601399],[71290],[Familial platelet disorder with associated myeloid malignancy],[10352],,,,, +GARD:1533,Active,Orphanet,ORPHA:2041,Disorder,[Morphological anomaly],Coronary arterial fistula,,Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.,,,,,,Coronaro-cardiac fistula,TRUE,FALSE,Active +GARD:15330,Active,Orphanet+OMIM,OMIM:601462,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 1a, slow-channel","[cms iia, formerly, Myasthenic syndrome, congenital, type iia, formerly]","Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by {5:Engel et al., 2003}; {7:Engel et al., 2015}). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency ({5:Engel et al., 2003}).\n\nSlow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by {7:Engel et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Congenital Myasthenic Syndromes\n\nRecessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS ({11:Harper, 2004}). CMS1A and CMS1B ({608930}) are caused by mutation in the CHRNA1 gene ({100690}); CMS2A ({616313}) and CMS2C ({616314}) are caused by mutation in the CHRNB1 gene ({100710}) on 17p12; CMS3A ({616321}), CMS3B ({616322}), and CMS3C ({616323}) are caused by mutation in the CHRND gene ({100720}) on 2q33; and CMS4A ({605809}), CMS4B ({616324}), and CMS4C ({608931}) are caused by mutation in the CHRNE gene ({100725}) on 17p13.\n\nCMS5 ({603034}) is caused by mutation in the COLQ gene ({603033}) on 3p25; CMS6 ({254210}) is caused by mutation in the CHAT gene ({118490}) on 10q; CMS7 ({616040}) is caused by mutation in the SYT2 gene ({600104}) on 1q32; CMS8 ({615120}) is caused by mutation in the AGRN gene ({103320}) on 1p; CMS9 ({616325}) is caused by mutation in the MUSK gene ({601296}) on 9q31; CMS10 ({254300}) is caused by mutation in the DOK7 gene ({610285}) on 4p; CMS11 ({616326}) is caused by mutation in the RAPSN gene ({601592}) on 11p11; CMS12 ({610542}) is caused by mutation in the GFPT1 gene ({138292}) on 2p14; CMS13 ({614750}) is caused by mutation in the DPAGT1 gene ({191350}) on 11q23; CMS14 ({616228}) is caused by mutation in the ALG2 gene ({607905}) on 9q22; CMS15 ({616227}) is caused by mutation in the ALG14 gene ({612866}) on 1p21; CMS16 ({614198}) is caused by mutation in the SCN4A gene ({603967}) on 17q; CMS17 ({616304}) is caused by mutation in the LRP4 gene ({604270}) on 11p12; CMS18 ({616330}) is caused by mutation in the SNAP25 gene ({600322}) on 20p11; CMS19 ({616720}) is caused by mutation in the COL13A1 gene ({120350}) on 10q22; CMS20 ({617143}) is caused by mutation in the SLC5A7 gene ({608761}) on 2q12; CMS21 ({617239}) is caused by mutation in the SLC18A3 gene ({600336}) on 10q11; CMS22 ({616224}) is caused by mutation in the PREPL gene ({609557}) on 2p21; CMS23 ({618197}) is caused by mutation in the SLC25A1 gene ({190315}) on 22q11; CMS24 ({618198}) is caused by mutation in the MYO9A gene ({604875}) on 15q22; and CMS25 ({618323}) is caused by mutation in the VAMP1 gene ({185880}) on 12p13.",[601462],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15331,Active,Orphanet+OMIM,OMIM:601493,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction",,,[601493],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15332,Active,Orphanet+OMIM,OMIM:601494,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1d","[Left ventricular noncompaction 6, included]",,[601494],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15334,Active,Orphanet+OMIM,OMIM:601518,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 1",[Prca1],,[601518],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15335,Active,Orphanet+OMIM,OMIM:601547,Subtype of disorder,"[Clinical subtype, Malformation syndrome subtype]","Cataract 3, multiple types","[Cataract 3, multiple types, with or without microcornea, cataract, congenital, cerulean type, 2]","Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal.\n\nBefore it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2.",[601547],"[1377, 98994]","[Cataract-microcornea syndrome, Total early-onset cataract]","[1155, 1159]",,,,, +GARD:15336,Active,Orphanet+OMIM,OMIM:601583,Subtype of disorder,[Disease subtype],Wilms tumor 5,"[Wilms tumor, susceptibility to]",,[601583],[654],[Nephroblastoma],[7892],,,,, +GARD:15337,Active,Orphanet+OMIM,OMIM:601813,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 4,,"Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {3:Poulter et al., 2010}).\n\nFor a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 ({133780}).",[601813],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:1534,Active,Orphanet,ORPHA:1081,Group of disorders,[Category],Coronary artery congenital malformation,,,,,,,,Coronary arteries congenital malformation,TRUE,FALSE,Active +GARD:15340,Active,Orphanet+OMIM,OMIM:601992,Subtype of disorder,[Disease subtype],Friedreich ataxia 2,,"Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by {2:Delatycki et al., 2000}).\n\nFor a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 ({229300}), which is caused by mutation in the FXN gene ({606829}) on chromosome 9q13.",[601992],[95],[Friedreich ataxia],[6468],,,,, +GARD:15341,Active,Orphanet+OMIM,OMIM:602078,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, 2","[Feom2 locus, fibrosis of extraocular muscles, congenital, autosomal recessive]","Congenital fibrosis of extraocular muscles-2 (CFEOM2) is an autosomal recessive disorder in which affected individuals are born with bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) ({3:Wang et al., 1998}, {2:Nakano et al., 2001}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of various forms of CFEOM, see CFEOM1 ({135700}).",[602078],[45358],[Congenital fibrosis of extraocular muscles],[12590],,,,, +GARD:15342,Active,Orphanet+OMIM,OMIM:602093,Subtype of disorder,[Disease subtype],Cone dystrophy 3,[Retinal cone dystrophy],"Progressive cone dystrophy usually presents in childhood or early adult life, with many patients developing rod photoreceptor involvement in later life, thereby leading to considerable overlap between progressive cone dystrophy and cone-rod dystrophy. Both progressive cone dystrophy and cone-rod dystrophy have been associated with mutation in the GUCA1A gene ({5:Michaelides et al., 2006}).\n\nIntrafamilial variability in GUCA1A-associated macular disease ranges from mild photoreceptor degeneration to central areolar choroidal dystrophy (CACD), a form of retinal degeneration that primarily involves the macula and is characterized by a well-defined atrophic region of retinal pigment epithelium and choriocapillaris in the latest stage ({1:Chen et al., 2017}).",[602093],[1871],[Progressive cone dystrophy],[11897],,,,, +GARD:15343,Active,Orphanet+OMIM,OMIM:602099,Subtype of disorder,[Disease subtype],"Amyotrophic lateral sclerosis 5, juvenile",,"Autosomal recessive juvenile amyotrophic lateral sclerosis-5 is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by {3:Orlacchio et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 ({105400}).",[602099],[300605],[Juvenile amyotrophic lateral sclerosis],[11901],,,,, +GARD:15344,Active,Orphanet+OMIM,OMIM:602114,Subtype of disorder,[Disease subtype],"Nephropathy, progressive tubulointerstitial, with cholestatic liver disease",,,[602114],[171],[Primary sclerosing cholangitis],[1280],,,,, +GARD:15346,Active,Orphanet+OMIM,OMIM:602483,Subtype of disorder,[Malformation syndrome subtype],Auriculocondylar syndrome 1,[Question mark ears syndrome],"Auriculocondylar syndrome (ARCND) is an autosomal dominant disorder of the first and second pharyngeal arches and is characterized by malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia (summary by {7:Masotti et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Auriculocondylar Syndrome\n\nAuriculocondylar syndrome-2 (ARCND2; {614669}) is caused by mutation in the PLCB4 gene ({600810}) on chromosome 20p12.3-p12.2. ARCND3 ({615706}) is caused by mutation in the EDN1 gene ({131240}) on chromosome 6p24.\n\nSee also {612798} for isolated question mark ears.",[602483],[137888],[Auriculocondylar syndrome],[9798],,,,, +GARD:15347,Active,Orphanet+OMIM,OMIM:602497,Subtype of disorder,[Malformation syndrome subtype],"Chondrodysplasia punctata, brachytelephalangic, autosomal",[Brachytelephalangic chondrodysplasia punctata],"For a general phenotypic description and discussion of genetic heterogeneity of chondrodysplasia punctata, see CDPX2 ({302960}).",[602497],[79345],[Brachytelephalangic chondrodysplasia punctata],[1296],,,,, +GARD:15348,Active,Orphanet+OMIM,OMIM:602522,Subtype of disorder,[Clinical subtype],"Bartter syndrome, type 4a, neonatal, with sensorineural deafness","[Bartter syndrome, neonatal, with sensorineural deafness]","Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed ({11:Simon et al., 1997}).\n\nPatients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by {12:Simon et al., 1996} and {3:Fremont and Chan, 2012}).\n\nFor a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.",[602522],[89938],[Bartter syndrome type 4],[10508],,,,, +GARD:15349,Active,Orphanet+OMIM,OMIM:602540,Subtype of disorder,[Disease subtype],"Ichthyosis, hystrix-like, with deafness",[Hid syndrome],,[602540],[477],[KID syndrome],[3113],,,,, +GARD:1535,Legacy,GARD,,,,,,,,,,,,Corpus callosum agenesis,TRUE,FALSE,Active +GARD:15350,Active,Orphanet+OMIM,OMIM:602722,Subtype of disorder,[Clinical subtype],"Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss",[Rtadr],,[602722],[402041],[Autosomal recessive distal renal tubular acidosis],[4666],,,,, +GARD:15351,Active,Orphanet+OMIM,OMIM:602759,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 8",,"For a general discussion of hereditary prostate cancer, see {176807}.",[602759],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15352,Active,Orphanet+OMIM,OMIM:603204,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 2",,"Nocturnal frontal lobe epilepsy-2 (ENFL2) is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations (summary by {1:Derry et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 ({600513}).",[603204],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:15353,Active,Orphanet+OMIM,OMIM:603278,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 1,"[Glomerulosclerosis, focal segmental, 1]","Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; {256300}), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by {4:D'Agati et al., 2004}; {10:Mathis et al., 1998}).\n\n{5:D'Agati et al. (2011)} provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte.\n\nBecause of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature.\n\n<Subhead> Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic Syndrome\n\nFocal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 ({603965}), caused by mutation in the TRPC6 gene ({603652}); FSGS3 ({607832}), associated with variation in the CD2AP gene ({604241}); FSGS4 ({612551}), mapped to chromosome 22q12; FSGS5 ({613237}), caused by mutation in the INF2 gene ({610982}); FSGS6 ({614131}), caused by mutation in the MYO1E gene ({601479}); FSGS7 ({616002}), caused by mutation in the PAX2 gene ({167409}); FSGS8 ({616032}), caused by mutation in the ANLN gene ({616027}); FSGS9 ({616220}), caused by mutation in the CRB2 gene ({609720}); and FSGS10 ({256020}), caused by mutation in the LMX1B gene ({602575}).\n\nSee also NPHS1 ({256300}), caused by mutation in the NPHS1 gene ({602716}); NPHS2 ({600995}), caused by mutation in the podocin gene ({604766}); NPHS3 ({610725}), caused by mutation in the PLCE1 gene ({608414}); NPHS4 ({256370}), caused by mutation in the WT1 gene ({607102}); NPHS5 ({614199}), caused by mutation in the LAMB2 gene ({150325}); NPHS6 ({614196}), caused by mutation in the PTPRO gene ({600579}); NPHS7 ({615008}), caused by mutation in the DGKE gene ({601440}); NPHS8 ({615244}), caused by mutation in the ARHGDIA gene ({601925}); NPHS9 ({615573}), caused by mutation in the COQ8B gene ({615567}); NPHS10 ({615861}), caused by mutation in the EMP2 gene ({602334}); NPHS11 ({616730}), caused by mutation in the NUP107 gene ({607617}); NPHS12 ({616892}), caused by mutation in the NUP93 gene ({614351}); NPHS13 ({616893}), caused by mutation in the NUP205 gene ({614352}); NPHS14 ({617575}), caused by mutation in the SGPL1 gene ({603729}); NPHS15 ({617609}), caused by mutation in the MAGI2 gene ({606382}); NPHS16 ({617783}), caused by mutation in the KANK2 gene ({614610}), NPHS17 ({618176}), caused by mutation in the NUP85 gene ({170285}); NPHS18 ({618177}), caused by mutation in the NUP133 gene ({607613}); NPHS19 ({618178}), caused by mutation in the NUP160 gene ({607614}); NPHS20 ({301028}), caused by mutation in the TBC1D8B gene ({301027}); and NPHS21 ({618594}) caused by mutation in the AVIL gene ({613397}).",[603278],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15354,Active,Orphanet+OMIM,OMIM:603386,Subtype of disorder,[Disease subtype],"Thyroid carcinoma, nonmedullary, with or without cell oxyphilia",,"The familial form of nonmedullary thyroid carcinoma (NMTC) is a complex genetic disorder characterized by multifocal neoplasia and a higher degree of aggressiveness than its sporadic counterpart.\n\nOne peculiar form of thyroid tumors is characterized by the presence of cell oxyphilia. Oxophil cells are found in a minority of thyroid tumors, either benign or malignant. These cells show a large volume of granular eosinophilic cytoplasm and are very rich in mitochondria. The familial occurrence of thyroid tumors with cell oxyphilia was reported by {4:Katoh et al. (1998)}. {2:Canzian et al. (1998)} reported such a family with affected members in 3 generations and by linkage analysis mapped the gene to 19p13.\n\nFor general phenotypic information and a discussion of genetic heterogeneity of NMTC, see {188550}.",[603386],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:15355,Active,Orphanet+OMIM,OMIM:603467,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group f",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nClinical features of FANCF include microcephaly, small or absent thumbs, short stature, microphthalmia, microtia, hearing loss, pigmentary anomalies (cafe-au-lait spots or hyperpigmentation), small or pelvic kidneys, and cardiac anomalies ({3:Tryon et al., 2017}; {4:Zareifar et al., 2019}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[603467],[84],[Fanconi anemia],[6425],,,,, +GARD:15356,Active,Orphanet+OMIM,OMIM:603649,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 7,,,[603649],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15357,Active,Orphanet+OMIM,OMIM:603688,Subtype of disorder,[Disease subtype],Prostate cancer/brain cancer susceptibility,"[Pcbc, capb]",,[603688],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15358,Active,Orphanet+OMIM,OMIM:603744,Subtype of disorder,[Disease subtype],Papillary thyroid microcarcinoma,,"The familial type of medullary thyroid carcinoma ({155240}) is a well-defined clinical entity. However, much less is known about the familial occurrence of differentiated thyroid carcinoma. Two patterns of presentation had been described for familial differentiated thyroid cancer: a pattern associated with an inherited tumor syndrome such as Gardner syndrome (APC; {175100}) and Cowden disease ({158350}), and a second pattern of familial aggregation without other associated neoplasms. A further classification of thyroid tumors is based on size: papillary microcarcinoma of the thyroid is defined as a papillary carcinoma measuring 1.0 cm or less in diameter. This group of patients has been thought to be a specific low-risk category with a favorable prognosis ({1:Hay et al., 1992}). {2:Lupoli et al. (1999)} identified a family history of thyroid carcinoma in 7 of 119 patients with papillary thyroid microcarcinoma. The tumor was multifocal in 5 patients, bilateral in 3, and showed vascular invasion in 3 of the 7 patients. Lymph node metastases were found in 4 patients. Three patients had a recurrence and 1 patient with pulmonary metastases died within 11 months. Thus, familial occurrence was observed in 5.9% of cases, together with an unfavorable behavior of the familial form of the disorder.",[603744],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:15359,Active,Orphanet+OMIM,OMIM:603786,Subtype of disorder,[Disease subtype],Stargardt disease 4,,"Stargardt disease is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait (see {248200}), but STGD4 is inherited as an autosomal dominant trait (summary by {2:Kniazeva et al., 1999}).",[603786],[827],[Stargardt disease],[181],,,,, +GARD:1536,Legacy,GARD,,,,,,,,,,,,Corpus callosum agenesis double urinary collecting,TRUE,FALSE,Active +GARD:15360,Active,Orphanet+OMIM,OMIM:603802,Subtype of disorder,[Etiological subtype],Microcephaly with simplified gyral pattern,,,[603802],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15361,Active,Orphanet+OMIM,OMIM:603909,Subtype of disorder,[Disease subtype],"Autoimmune lymphoproliferative syndrome, type iia","[Autoimmune lymphoproliferative syndrome, type ii]",,[603909],[3261],[Autoimmune lymphoproliferative syndrome],[8686],,,,, +GARD:15362,Active,Orphanet+OMIM,OMIM:603965,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 2,"[Glomerulosclerosis, focal segmental, 2]","Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (review by {1:Meyrier, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome (NPHS), see FSGS1 ({603278}).",[603965],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15363,Active,Orphanet+OMIM,OMIM:604145,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1g",,"Dilated cardiomyopathy-1G (CMD1G) is an autosomal dominant disorder characterized by ventricular dilatation and systolic contractile dysfunction ({5:Siu et al., 1999}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see CMD1A ({115200}).",[604145],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15364,Active,Orphanet+OMIM,OMIM:604219,Subtype of disorder,[Malformation syndrome subtype],"Cataract 9, multiple types","[cataract, autosomal recessive congenital 1, cataract, autosomal dominant, Cataract 9, multiple types, with or without microcornea]","Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene.",[604219],[1377],[Cataract-microcornea syndrome],[1155],,,,, +GARD:15365,Active,Orphanet+OMIM,OMIM:604288,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1h",,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[604288],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15366,Active,Orphanet+OMIM,OMIM:604317,Subtype of disorder,[Etiological subtype],"Microcephaly 2, primary, autosomal recessive, with or without cortical malformations",,"Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology ({4:Hofman, 1984}). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by {9:Yu et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[604317],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15367,Active,Orphanet+OMIM,OMIM:604321,Subtype of disorder,[Etiological subtype],"Microcephaly 4, primary, autosomal recessive",,"Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by {5:Woods et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[604321],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15368,Active,Orphanet+OMIM,OMIM:604348,Subtype of disorder,[Disease subtype],"Advanced sleep phase syndrome, familial, 1",,"Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by {2:Jones et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Advanced Sleep Phase Syndrome\n\nSee also FASPS2 ({615224}), caused by mutation in the CSNK1D gene ({600864}) on chromosome 17q25, and FASPS3 ({616882}), caused by mutation in the PER3 gene ({603427}) on chromosome 1p36.",[604348],[164736],[Familial advanced sleep-phase syndrome],[9242],,,,, +GARD:1537,Active,Orphanet,ORPHA:1496,Disorder,[Disease],Corpus callosum agenesis-neuronopathy syndrome,"[Andermann syndrome, Charlevoix disease]","Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.",[218000],,,,,Andermann syndrome,TRUE,FALSE,Active +GARD:15370,Active,Orphanet+OMIM,OMIM:604547,Subtype of disorder,[Malformation syndrome subtype],"Van der woude syndrome 1, modifier of",[Vwsm],,[604547],[888],[Van der Woude syndrome],[8414],,,,, +GARD:15372,Active,Orphanet+OMIM,OMIM:604765,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1i",,,[604765],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15373,Active,Orphanet+OMIM,OMIM:604804,Subtype of disorder,[Etiological subtype],"Microcephaly 3, primary, autosomal recessive",,,[604804],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15374,Active,Orphanet+OMIM,OMIM:604928,Subtype of disorder,[Disease subtype],Wolfram syndrome 2,,"Wolfram syndrome-2 is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding (summary by {4:Mozzillo et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Wolfram syndrome, see WFS1 ({222300}).",[604928],[3463],[Wolfram syndrome],[7898],,,,, +GARD:15375,Active,Orphanet+OMIM,OMIM:604931,Subtype of disorder,[Malformation syndrome subtype],Cortisone reductase deficiency 1,,"Cortisone reductase deficiency (CRD) results from a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (HSD11B1; {600713}). The oxoreductase activity of 11-beta-HSD requires the NADPH-regenerating enzyme hexose-6-phosphate dehydrogenase (H6PD; {138090}) within the endoplasmic reticulum. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, which in CRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by {5:Lavery et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Cortisone Reductase Deficiency\n\nCORTRD2 ({614662}) is caused by mutation in the HSD11B1 gene ({600713}) on chromosome 1q32.",[604931],[168588],[Hyperandrogenism due to cortisone reductase deficiency],[9882],,,,, +GARD:15376,Active,Orphanet+OMIM,OMIM:605019,Subtype of disorder,[Disease subtype],"Hypobetalipoproteinemia, familial, 2","[Hypolipidemia, familial, combined]","Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. Heritable primary causes of HBL include chylomicron retention disease (CMRD; {246700}), abetalipoproteinemia ({200100}), and familial hypobetalipoproteinemia (FHBL) (summary by {4:Martin-Campos et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial hypobetalipoproteinemia, see FHBL1 ({615558}).",[605019],[14],[Abetalipoproteinemia],[5],,,,, +GARD:15377,Active,Orphanet+OMIM,OMIM:605244,Subtype of disorder,[Disease subtype],"Carney complex, type 2",,"For a general phenotypic description and a discussion of genetic heterogeneity of Carney complex, see CNC1 ({160980}).",[605244],[1359],[Carney complex],[1119],,,,, +GARD:15378,Active,Orphanet+OMIM,OMIM:605289,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 4,,"Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM4 have been found to have mental retardation, ectodermal findings, and orofacial clefting ({1:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 ({183600}).",[605289],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15379,Active,Orphanet+OMIM,OMIM:605293,Subtype of disorder,[Disease subtype],Optic atrophy 4,,"For a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[605293],[98673],"[Autosomal dominant optic atrophy, classic form]",[9890],,,,, +GARD:1538,Legacy,GARD,,,,,,,,,,,,Corpus callosum agenesis of blepharophimosis Robin type,TRUE,FALSE,Active +GARD:15380,Active,Orphanet+OMIM,OMIM:605375,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 3",,,[605375],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:15381,Active,Orphanet+OMIM,OMIM:605549,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 8,,"For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see {120970}.",[605549],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15382,Active,Orphanet+OMIM,OMIM:605582,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1k",,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[605582],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15383,Active,Orphanet+OMIM,OMIM:605594,Subtype of disorder,[Clinical subtype],"Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1","[dfna39/dgi1 syndrome, Dfna39/dentinogenesis imperfecta 1 syndrome, dgi1/dfna39 syndrome]",,[605594],[166260],[Dentinogenesis imperfecta type 2],[12796],,,,, +GARD:15384,Active,Orphanet+OMIM,OMIM:605672,Subtype of disorder,[Disease subtype],Cerebellar ataxia and hypergonadotropic hypogonadism,,"{1:Amor et al. (2001)} described 2 sisters with onset of progressive cerebellar ataxia at the age of 16 and 32 years, respectively, and secondary amenorrhea due to hypergonadotropic hypogonadism. Sensorineural deafness with vestibular hypofunction and peripheral sensory impairment were also present. Intellect was normal. The authors referred to reports that may represent the same disorder, e.g., that of {2:Skre et al. (1976)}. Cerebellar ataxia and hypogonadotropic hypogonadism is discussed elsewhere; see {212840}.",[605672],[1173],[Cerebellar ataxia-hypogonadism syndrome],[3314],,,,, +GARD:15385,Active,Orphanet+OMIM,OMIM:605738,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 2",,"For a discussion of genetic heterogeneity of isolated colobomatous microphthalmia, see MCOPCB1 ({300345}).",[605738],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15386,Active,Orphanet+OMIM,OMIM:605750,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 3,,"Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {3:Poulter et al., 2010}).\n\nFor a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 ({133780}).",[605750],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:15387,Active,Orphanet+OMIM,OMIM:605809,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 4a, slow-channel","[Congenital myasthenic syndrome type ia1, formerly, cms ia1, formerly]","Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by {5:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[605809],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15388,Active,Orphanet+OMIM,OMIM:605841,Subtype of disorder,[Disease subtype],"Narcolepsy 2, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[605841],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15389,Active,Orphanet+OMIM,OMIM:606002,Subtype of disorder,[Disease subtype],"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2","[ataxia-ocular apraxia 2, Ataxia-oculomotor apraxia 2, spinocerebellar ataxia, autosomal recessive 1, formerly]","Autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 is a neurodegenerative disorder characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein (AFP; {104150}). Oculomotor apraxia is a common but inconsistent finding, found in about 50% of patients; hence this disorder is sometimes referred to as 'ataxia-oculomotor apraxia-2' (AOA2) ({14:Moreira et al., 2004}; summary by {11:Ichikawa et al., 2013}).\n\n{9:Duquette et al. (2005)} emphasized that oculomotor apraxia is not a universal finding in this disorder and suggested the name 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy-2' (SCAN2) to distinguish it from SCAN1 ({607250}).\n\nFor a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 ({208920}).\n\nFor a discussion of genetic heterogeneity of SCAN, see SCAN1 ({607250}).",[606002],[64753],[Spinocerebellar ataxia with axonal neuropathy type 2],[12860],,,,, +GARD:15390,Active,Orphanet+OMIM,OMIM:606164,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 15 with mandibulofacial dysostosis,,,[606164],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15391,Active,Orphanet+OMIM,OMIM:606240,Subtype of disorder,[Disease subtype],"Thyroid cancer, nonmedullary, 3",,"Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; {155240}). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell ({607464}), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis {175100}, Carney complex {160980}) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by {4:Vriens et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550}).",[606240],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:15392,Active,Orphanet+OMIM,OMIM:606391,Subtype of disorder,[Disease subtype],Maturity-onset diabetes of the young,[Mason-type diabetes],"Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity ({18:Vaxillaire and Froguel, 2008}).\n\n<Subhead> Genetic Heterogeneity of MODY\n\nMODY1 ({125850}) is caused by heterozygous mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A; {600281}) on chromosome 20.\n\nMODY2 ({125851}) is caused by heterozygous mutation in the glucokinase gene (GCK; {138079}) on chromosome 7.\n\nMODY3 ({600496}) is caused by heterozygous mutation in the hepatocyte nuclear factor-1alpha gene (HNF1A; {142410}) on chromosome 12q24.2.\n\nMODY4 ({606392}) is caused by heterozygous mutation in the pancreas/duodenum homeobox protein-1 gene (PDX1; {600733}) on chromosome 13q12.1.\n\nMODY5 ({137920}) is caused by heterozygous mutation in the gene encoding hepatic transcription factor-2 (TCF2; {189907}) on chromosome 17cen-q21.3.\n\nMODY6 ({606394}) is caused by heterozygous mutation in the NEUROD1 gene ({601724}) on chromosome 2q32.\n\nMODY7 ({610508}) is caused by heterozygous mutation in the KLF11 gene ({603301}) on chromosome 2p25.\n\nMODY8 ({609812}), or diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the CEL gene ({114840}) on chromosome 9q34.\n\nMODY9 ({612225}) is caused by heterozygous mutation in the PAX4 gene ({167413}) on chromosome 7q32.\n\nMODY10 ({613370}) is caused by heterozygous mutation in the insulin gene (INS; {176730}) on chromosome 11p15.5.\n\nMODY11 ({613375}) is caused by heterozygous mutation in the BLK gene ({191305}) on chromosome 8p23.\n\nMODY13 ({616329}) is caused by heterozygous mutation in the KCNJ11 gene ({600937}) on chromosome 11p15.\n\nMODY14 ({616511}) is caused by heterozygous mutation in the APPL1 gene ({604299}) on chromosome 3p14.",[606391],[552],[MODY],[3697],,,,, +GARD:15393,Active,Orphanet+OMIM,OMIM:606545,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 3","[Collodion baby, self-healing, ichthyosis, lamellar, 5, formerly]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({9:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {8:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[606545],"[281122, 79394, 313]","[Lamellar ichthyosis, Self-improving collodion baby, Congenital non-bullous ichthyosiform erythroderma]","[10803, 9736, 17303]",,,,, +GARD:15394,Active,Orphanet+OMIM,OMIM:606660,Subtype of disorder,[Disease subtype],"Melanoma, uveal, susceptibility to, 1",,"Uveal melanoma ({155720}) is the most common primary intraocular malignancy. Monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease. To obtain positional information on putative tumor suppressor genes on chromosome 3, {1:Tschentscher et al. (2001)} investigated tumors from 333 patients by comparative genomic hybridization, microsatellite analysis, or conventional karyotype analysis. A partial deletion of the long arm was found in 8 tumors, and the smallest region of deletion overlap (SRO) spanned 3q24-q26. They found 6 tumors with a partial deletion of the short arm and defined a second SRO of about 2.5 Mb in 3p25. {1:Tschentscher et al. (2001)} interpreted their findings as suggesting a role for 2 tumor suppressor genes in metastasizing uveal melanoma: one on 3q, here designated UVM1, and a second on 3p25, here designated UVM2 ({606661}). The involvement of 2 tumor suppressor genes may explain the loss of an entire chromosome 3 in metastatic uveal melanomas.",[606660],[39044],[Uveal melanoma],[8621],,,,, +GARD:15395,Active,Orphanet+OMIM,OMIM:606661,Subtype of disorder,[Disease subtype],"Melanoma, uveal, susceptibility to, 2",,"Uveal melanoma ({155720}) is the most common primary intraocular malignancy. Monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease. To obtain positional information on putative tumor suppressor genes on chromosome 3, {2:Tschentscher et al. (2001)} investigated tumors from 333 patients by comparative genomic hybridization, microsatellite analysis, or conventional karyotype analysis. A partial deletion of the long arm was found in 8 tumors, and the smallest region of deletion overlap (SRO) spanned 3q24-q26. They found 6 tumors with a partial deletion of the short arm and defined a second SRO of about 2.5 Mb in 3p25. This SRO did not overlap with the von Hippel-Lindau disease gene ({608537}). {2:Tschentscher et al. (2001)} interpreted their findings as suggesting a role for 2 tumor suppressor genes in metastasizing uveal melanoma: one on 3q, here designated UVM1 ({606660}), and a second on 3p25, here designated UVM2. The involvement of 2 tumor suppressor genes may explain the loss of an entire chromosome 3 in metastatic uveal melanomas.\n\n{1:Parrella et al. (2003)} mapped both arms of chromosome 3 in 21 uveal melanomas that did not show monosomy 3 in previous allelotype studies. DNA was isolated from microdissected paraffin sections of posterior uveal melanoma treated by enucleation from 1993 to 1998 and archived by the Eye Pathology Laboratory of the Wilmer Ophthalmologic Institute, Johns Hopkins. In an initial screening, 14 microsatellite markers on 3p and 13 on 3q were used. Loss of heterozygosity for at least 1 marker was found in 9 of 21 tumors (43%) on 3p and 8 of 21 tumors (38%) on 3q. Two common regions of allelic loss on 3p were further mapped with an additional 14 microsatellite markers. A 1.4-Mb minimal region of allelic loss was identified between microsatellite markers D3S3610 and D3S1554 on 3p25.2-p25.1. Ten tumors had allelic loss in this region; 2 of these tumors had corresponding putative homozygous deletions.",[606661],[39044],[Uveal melanoma],[8621],,,,, +GARD:15396,Active,Orphanet+OMIM,OMIM:606662,Subtype of disorder,[Clinical subtype],"Waardenburg syndrome, type 2c",,"Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS ({1:Selicorni et al., 2002}). WS type 2C (WS2C) maps to chromosome 8p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580}).",[606662],[895],[Waardenburg syndrome type 2],[5520],,,,, +GARD:15397,Active,Orphanet+OMIM,OMIM:606685,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1l",,"Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A ({115200}).",[606685],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15398,Active,Orphanet+OMIM,OMIM:606708,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 5,,"Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM5 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting ({3:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 ({183600}).",[606708],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15399,Active,Orphanet+OMIM,OMIM:606744,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 2,"[microcephalic primordial dwarfism 2, Seckel-type dwarfism 2]","Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance ({1:Borglum et al., 2001}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 ({210600}).",[606744],[808],[Seckel syndrome],[8562],,,,, +GARD:154,Legacy,GARD,,,,,,,,,,,,Sandhaus Ben-Ami syndrome,TRUE,FALSE,Active +GARD:15400,Active,Orphanet+OMIM,OMIM:606763,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 2","[Ciliary dyskinesia, primary, 2, with or without situs inversus]",,[606763],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15401,Active,Orphanet+OMIM,OMIM:606856,Subtype of disorder,[Disease subtype],"Pancreatic cancer, susceptibility to, 1",[Pnca1],,[606856],[1333],[Familial pancreatic carcinoma],[4206],,,,, +GARD:15402,Active,Orphanet+OMIM,OMIM:606874,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 6",,"The disorder described by {4:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[606874],[388],[Hirschsprung disease],[6660],,,,, +GARD:15403,Active,Orphanet+OMIM,OMIM:606875,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 7",,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[606875],[388],[Hirschsprung disease],[6660],,,,, +GARD:15404,Active,Orphanet+OMIM,OMIM:606943,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ig",,"Usher syndrome is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa. The syndrome is both clinically and genetically heterogeneous. Of the 3 different clinical types that have been described, USH1 ({276900}), consisting of the association of profound congenital deafness, constant vestibular dysfunction, and prepubertal onset retinitis pigmentosa, is the most severe.",[606943],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:15405,Active,Orphanet+OMIM,OMIM:606995,Subtype of disorder,[Disease subtype],Senior-loken syndrome 3,,"For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see {266900}.",[606995],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15406,Active,Orphanet+OMIM,OMIM:606996,Subtype of disorder,[Disease subtype],Senior-loken syndrome 4,,,[606996],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15407,Active,Orphanet+OMIM,OMIM:607004,Subtype of disorder,[Malformation syndrome subtype],"Brachydactyly, type a1, b",,"For a general phenotypic description and discussion of genetic heterogeneity of type A1 brachydactyly, see BDA1 ({112500}).",[607004],[93388],[Brachydactyly type A1],[978],,,,, +GARD:15408,Active,Orphanet+OMIM,OMIM:607086,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 1",,"Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm ({100070}) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes.\n\nMedial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome ({154700}), and vascular (type IV) Ehlers-Danlos syndrome ({130050}). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome.\n\n<Subhead> Genetic Heterogeneity of Thoracic Aortic Aneurysm\n\nLoci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2; {607087}). Mutation in the MYH11 gene ({160745}) on chromosome 16p causes AAT4 ({132900}). Mutation in the ACTA2 gene ({102620}) on chromosome 10q causes AAT6 ({611788}). Mutation in the MYLK gene ({600922}) on chromosome 3q21 causes AAT7 ({613780}). Mutation in the PRKG1 gene ({176894}) on chromosome 10q11 causes AAT8 ({615436}). Mutation in the MFAP5 gene ({601103}) on chromosome 12p13 causes AAT9 ({616166}). Mutation in the LOX gene ({153455}) on chromosome 5q23 causes AAT10 ({617168}). Mutation in the FOXE3 gene ({601094}) on chromosome 1p33 causes susceptibility to AAT11 ({617349}).\n\nThoracic aortic aneurysm with dissection (e.g., AAT3 and AAT5) can occur as a manifestation of the Loeys-Dietz syndrome (see LDS2, {610168} and LDS1, {609192}, caused by mutation in the TGFBR2 ({190182}) and TGFBR1 ({190181}) genes, respectively).\n\n<Subhead> Reviews\n\n{20:Pyeritz (2014)} reviewed heritable thoracic aortic disorders with particular attention to causative genes, including components of the extracellular matrix, vascular smooth muscle cytoskeleton, and TGF-beta and other signaling pathways.",[607086],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:15409,Active,Orphanet+OMIM,OMIM:607087,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 2",,"For a phenotypic description and a discussion of genetic heterogeneity of familial thoracic aortic aneurysm, see {607086}.",[607087],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:1541,Legacy,GARD,,,,,,,,,,,,Corpus callosum dysgenesis cleft spasm,TRUE,FALSE,Active +GARD:15410,Active,Orphanet+OMIM,OMIM:607151,Subtype of disorder,[Disease subtype],Moyamoya disease 2,,"Moyamoya disease is a progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage (summary by {1:Kamada et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350}).",[607151],[2573],[Moyamoya disease],[7064],,,,, +GARD:15411,Active,Orphanet+OMIM,OMIM:607326,Subtype of disorder,[Disease subtype],Smith-mccort dysplasia 1,[Smc],"Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease. Spinal cord compression due to atlantoaxial instability occurs in both SMC and DMC ({6:Spranger et al., 1976}; {3:Nakamura et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Smith-McCort Dysplasia\n\nSmith-McCort dysplasia-2 (SMC2; {615222}) is caused by mutation in the RAB33B gene ({605950}) on chromosome 4q31.",[607326],[178355],[Smith-McCort dysplasia],[10620],,,,, +GARD:15412,Active,Orphanet+OMIM,OMIM:607398,Subtype of disorder,[Disease subtype],Glucocorticoid deficiency 2,[Familial glucocorticoid deficiency 2],"Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood (summary by {1:Metherell et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200}).",[607398],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:15413,Active,Orphanet+OMIM,OMIM:607482,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1m",,,[607482],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15414,Active,Orphanet+OMIM,OMIM:607554,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 3",,"Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({3:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[607554],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15415,Active,Orphanet+OMIM,OMIM:607572,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 2",,See {609888} for a discussion of leprosy susceptibility in general and information on genetic heterogeneity.,[607572],[548],[Leprosy],[6886],,,,, +GARD:15416,Active,Orphanet+OMIM,OMIM:607596,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1a","[pontocerebellar hypoplasia with anterior horn cell disease, pontocerebellar hypoplasia with infantile spinal muscular atrophy, Pch1]","Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in little or no development. Different types were classified based on the clinical picture and the spectrum of pathologic changes. PCH type 1 is characterized by central and peripheral motor dysfunction associated with anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA; see SMA1, {253300}); death usually occurs early.\n\n<Subhead> Genetic Heterogeneity of Pontocerebellar Hypoplasia\n\nAlso see PCH1B ({614678}), caused by mutation in the EXOSC3 gene ({606489}); PCH1C ({616081}), caused by mutation in the EXOSC8 gene ({606019}); PCH1D ({618065}), caused by mutation in the EXOSC9 gene ({606180}); PCH1E ({619303}), caused by mutation in the SLC25A46 gene ({610826}); PCH1F ({619304}), caused by mutation in the EXOSC1 gene ({606493}); PCH2A ({277470}), caused by mutation in the TSEN54 gene ({608755}); PCH2B ({612389}), caused by mutation in the TSEN2 gene ({608753}); PCH2C ({612390}), caused by mutation in the TSEN34 gene ({608754}); PCH2D ({613811}), caused by mutation in the SEPSECS gene ({613009}); PCH3 ({608027}), caused by mutation in the PCLO gene ({604918}); PCH4 ({225753}), caused by mutation in the TSEN54 gene; PCH5 ({610204}), caused by mutation in the TSEN54 gene; PCH6 ({611523}), caused by mutation in the RARS2 gene ({611524}); PCH7 ({614969}), caused by mutation in the TOE1 gene ({613931}); PCH8 ({614961}), caused by mutation in the CHMP1A gene ({164010}); PCH9 ({615809}), caused by mutation in the AMPD2 gene ({102771}); PCH10 ({615803}), caused by mutation in the CLP1 gene ({608757}); PCH11 ({617695}), caused by mutation in the TBC1D23 gene ({617687}); PCH12 ({618266}), caused by mutation in the COASY gene ({609855}); PCH13 ({618606}), caused by mutation in the VPS51 gene ({615738}); PCH14 ({619301}), caused by mutation in the PPIL1 gene ({601301}); PCH15 ({619302}), caused by mutation in the CDC40 gene ({605585}); PCH16 ({619527}), caused by mutation in the MINPP1 gene ({605391}); and PCH17 ({619909}), caused by mutation in the PRDM13 gene ({616741}) on chromosome 6q16.",[607596],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:15417,Active,Orphanet+OMIM,OMIM:607602,Subtype of disorder,[Disease subtype],"Ichthyosis, cyclic, with epidermolytic hyperkeratosis","[Ciehk, epidermolytic ichthyosis, annular]",,[607602],[312],[Autosomal dominant epidermolytic ichthyosis],[1039],,,,, +GARD:15418,Active,Orphanet+OMIM,OMIM:607644,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 3",,"For a general description and a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 ({114580}).",[607644],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:1542,Legacy,GARD,,,,,,,,,,,,Corpus callosum dysgenesis hypopituitarism,TRUE,FALSE,Active +GARD:15420,Active,Orphanet+OMIM,OMIM:607823,Subtype of disorder,[Disease subtype],Hypotrichosis-lymphedema-telangiectasia syndrome,,"Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by {4:Irrthum et al., 2003}).",[607823],[69735],[Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome],[12827],,,,, +GARD:15421,Active,Orphanet+OMIM,OMIM:607829,Subtype of disorder,[Morphological anomaly subtype],Mitral valve prolapse 2,"[myxomatous mitral valve prolapse 2, Mitral valve prolapse, myxomatous 2]","Patients with MVP2 have nonsyndromic MVP of variable severity inherited as an autosomal dominant trait.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 ({157700}).",[607829],[741],[Familial mitral valve prolapse],[3687],,,,, +GARD:15422,Active,Orphanet+OMIM,OMIM:607832,Subtype of disorder,[Disease subtype],"Focal segmental glomerulosclerosis 3, susceptibility to","[Glomerulosclerosis, focal segmental, 3, susceptibility to]","Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) ({3:Meyrier, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[607832],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15423,Active,Orphanet+OMIM,OMIM:607903,Subtype of disorder,[Disease subtype],Hypotrichosis 6,"[monilethrix-like hypotrichosis, Hypotrichosis, localized, autosomal recessive 1, htl, hypotrichosis, localized, autosomal recessive]","Localized autosomal recessive hypotrichosis is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by {5:Schaffer et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Localized Hypotrichosis\n\nLAH2 (HYPT7; {604379}) is caused by mutation in the LIPH gene ({607365}) on chromosome 3q27, and LAH3 (HYPT8; {278150}) is caused by mutation in the LPAR6 (P2RY5) gene ({609239}) on chromosome 13q14.12-q14.2.\n\nSee also hypotrichosis and recurrent skin vesicles ({613102}), which is caused by mutation in the DSC3 gene ({600271}).",[607903],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:15424,Active,Orphanet+OMIM,OMIM:608097,Subtype of disorder,[Clinical subtype],"Periventricular heterotopia with microcephaly, autosomal recessive","[Periventricular nodular heterotopia 2, heterotopia, periventricular, autosomal recessive]",,[608097],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:15425,Active,Orphanet+OMIM,OMIM:608098,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 3,,"For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.",[608098],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:15426,Active,Orphanet+OMIM,OMIM:608194,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 13,,,[608194],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15427,Active,Orphanet+OMIM,OMIM:608217,Subtype of disorder,[Disease subtype],"Seizures, benign familial neonatal, 3","[Convulsions, benign familial neonatal, 3]","For a phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 ({121200}).",[608217],[1949],[Benign familial neonatal epilepsy],[1519],,,,, +GARD:15428,Active,Orphanet+OMIM,OMIM:608328,Subtype of disorder,[Malformation syndrome subtype],Weill-marchesani syndrome 2,"[glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, mesodermal dysmorphodystrophy, congenital, spherophakia-brachymorphia syndrome, Weill-marchesani syndrome, autosomal dominant]","Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities ({3:Faivre et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}.",[608328],[3449],[Weill-Marchesani syndrome],[4936],,,,, +GARD:15429,Active,Orphanet+OMIM,OMIM:608358,Subtype of disorder,[Disease subtype],"Myopathy, myosin storage, autosomal dominant","[Myopathy, hyaline body, autosomal dominant, myopathy with lysis of type i myofibrils]","Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary by {7:Dye et al., 2006}).",[608358],[53698],[Hyaline body myopathy],[7148],,,,, +GARD:1543,Legacy,GARD,,,,,,,,,,,,Corpus callosum dysgenesis X-linked recessive,TRUE,FALSE,Active +GARD:15430,Active,Orphanet+OMIM,OMIM:608389,Subtype of disorder,[Malformation syndrome subtype],Branchiootic syndrome 3,[Bo syndrome 3],,[608389],[52429],[Branchiootic syndrome],[10148],,,,, +GARD:15431,Active,Orphanet+OMIM,OMIM:608393,Subtype of disorder,[Etiological subtype],"Microcephaly 6, primary, autosomal recessive",,,[608393],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15432,Active,Orphanet+OMIM,OMIM:608462,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 8",,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[608462],[388],[Hirschsprung disease],[6660],,,,, +GARD:15434,Active,Orphanet+OMIM,OMIM:608569,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1o","[Cardiomyopathy, dilated, with ventricular tachycardia]",,[608569],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15435,Active,Orphanet+OMIM,OMIM:608629,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 3,,,[608629],[220493],[Joubert syndrome with ocular defect],[10168],,,,, +GARD:15436,Active,Orphanet+OMIM,OMIM:608644,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 3","[Ciliary dyskinesia, primary, 3, with or without situs inversus]","Primary ciliary dyskinesia (PCD; CILD) is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (summary by {1:Afzelius, 1976}; {2:El Zein et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 ({244400}).",[608644],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15437,Active,Orphanet+OMIM,OMIM:608646,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 4",,"For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 ({244400}).",[608646],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15438,Active,Orphanet+OMIM,OMIM:608647,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 5","[Ciliary dyskinesia, primary, 5, without situs inversus]","Primary ciliary dyskinesia-5 (CILD5) is an autosomal recessive disorder characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus (summary by {4:Olbrich et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[608647],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15439,Active,Orphanet+OMIM,OMIM:608656,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 3",,"For a general discussion of hereditary prostate cancer, see {176807}.",[608656],[1331],[Familial prostate cancer],[4520],,,,, +GARD:1544,Active,Orphanet,ORPHA:216694,Disorder,[Morphological anomaly],Congenitally corrected transposition of the great arteries,"[Congenitally corrected transposition of the great vessels, Discordant ventriculoarterial and atrioventricular connections, Double discordance, L-transposition of the great arteries, Levo-transposition of the great arteries, Ventricular inversion, Ventriculoarterial and atrioventricular discordance]","Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.",,,,,,Congenitally corrected transposition of the great arteries,TRUE,FALSE,Active +GARD:15440,Active,Orphanet+OMIM,OMIM:608658,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 4",,"For a general discussion of hereditary prostate cancer, see {176807}.",[608658],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15441,Active,Orphanet+OMIM,OMIM:608716,Subtype of disorder,[Etiological subtype],"Microcephaly 5, primary, autosomal recessive",,"Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by {20:Woods et al., 2005}; {17:Saadi et al., 2009}; {11:Passemard et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 ({251200}).",[608716],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15442,Active,Orphanet+OMIM,OMIM:608796,Subtype of disorder,[Disease subtype],Moyamoya disease 3,,"In moyamoya disease, stenosis of the intracranial portion of the internal carotid artery leads to secondary establishment of intracranial compensatory anastomoses at different levels (leptomeninges, basal ganglia, and transdural) (summary by {1:Sakurai et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350}).",[608796],[2573],[Moyamoya disease],[7064],,,,, +GARD:15443,Active,Orphanet+OMIM,OMIM:608816,Subtype of disorder,[Disease subtype],"Myoclonic epilepsy, juvenile, susceptibility to, 3",,"For general phenotypic information and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}.",[608816],[307],[Juvenile myoclonic epilepsy],[6808],,,,, +GARD:15444,Active,Orphanet+OMIM,OMIM:608890,Subtype of disorder,[Clinical subtype],"Waardenburg syndrome, type 2d","[Waardenburg syndrome, type iid]","Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by {2:Read and Newton, 1997}). WS type 2D is caused by mutation in the SNAI2 gene ({602150}). Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580}).",[608890],[895],[Waardenburg syndrome type 2],[5520],,,,, +GARD:15445,Active,Orphanet+OMIM,OMIM:608930,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 1b, fast-channel",,"Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor (AChR) channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by {4:Sine et al., 2003} and {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[608930],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15446,Active,Orphanet+OMIM,OMIM:608988,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 2",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[608988],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15447,Active,Orphanet+OMIM,OMIM:609039,Subtype of disorder,[Disease subtype],Narcolepsy 3,,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[609039],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15448,Active,Orphanet+OMIM,OMIM:609053,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group i",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[609053],[84],[Fanconi anemia],[6425],,,,, +GARD:15449,Active,Orphanet+OMIM,OMIM:609054,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group j",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[609054],[84],[Fanconi anemia],[6425],,,,, +GARD:15450,Active,Orphanet+OMIM,OMIM:609197,Subtype of disorder,[Disease subtype],Glucocorticoid deficiency 3,,"Familial isolated glucocorticoid deficiency is an adrenocortical failure characterized by very low levels of plasma cortisol despite high levels of plasma adrenocorticotropin (ACTH). Moreover, the adrenal response to ACTH is severely impaired. There is no mineralocorticoid deficiency and the renin-angiotensin system is not affected (summary by {1:Genin et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200}).",[609197],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:15451,Active,Orphanet+OMIM,OMIM:609254,Subtype of disorder,[Disease subtype],Senior-loken syndrome 5,,Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see {256100}) and Leber congenital amaurosis (LCA; see {204000}).,[609254],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15452,Active,Orphanet+OMIM,OMIM:609273,Subtype of disorder,[Disease subtype],Nemaline myopathy 6,,"Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by {4:Sambuughin et al., 2010}).",[609273],[171439],[Childhood-onset nemaline myopathy],[7171],,,,, +GARD:15453,Active,Orphanet+OMIM,OMIM:609284,Subtype of disorder,[Disease subtype],Nemaline myopathy 1,,"Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by {14:Waddell et al., 2010} and {9:Malfatti et al., 2013}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.",[609284],"[171433, 171439]","[Intermediate nemaline myopathy, Childhood-onset nemaline myopathy]","[12823, 7171]",,,,, +GARD:15454,Active,Orphanet+OMIM,OMIM:609285,Subtype of disorder,[Disease subtype],Nemaline myopathy 4,,,[609285],"[171436, 171439]","[Typical nemaline myopathy, Childhood-onset nemaline myopathy]","[12822, 7171]",,,,, +GARD:15455,Active,Orphanet+OMIM,OMIM:609299,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 5",,"For a general discussion of hereditary prostate cancer, see {176807}.",[609299],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15456,Active,Orphanet+OMIM,OMIM:609304,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 3,"[Epileptic encephalopathy, early infantile, 3]","Developmental and epileptic encephalopathy-3 (DEE3) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks to months of life. The prognosis is poor, and affected children either may die within 1 to 2 years after birth or survive in a persistent vegetative state. The EEG pattern often shows a suppression-burst pattern with high-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases; these features are reminiscent of a clinical diagnosis of Ohtahara syndrome. Some patients may have hypsarrhythmia on EEG, consistent with a clinical diagnosis of West syndrome (summary by {2:Molinari et al., 2005}, {1:Molinari et al., 2009}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[609304],"[1935, 1934]","[Early infantile epileptic encephalopathy, Early myoclonic encephalopathy]","[16581, 9255]",,,,, +GARD:15457,Active,Orphanet+OMIM,OMIM:609310,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 2","[coca2, Colon cancer, familial nonpolyposis, type 2]",,[609310],[144],[Lynch syndrome],[9905],,,,, +GARD:15458,Active,Orphanet+OMIM,OMIM:609345,Subtype of disorder,[Malformation syndrome subtype],Cerebrorenodigital syndrome with limb malformations and triradiate acetabula,,"{1:Franceschini et al. (2004)} observed 2 male sibs with features suggestive of Meckel syndrome (see MKS; {249000}), including occipital encephalocele, polycystic kidneys, and polydactyly, but who also had short, incurved distal long bones and triradiate acetabula. The latter feature had not previously been reported in MKS, nor had it been seen with occipital encephalocele. {1:Franceschini et al. (2004)} noted that although short and bowed limbs are seen in about 15% of MKS cases ({2:Majewski et al., 1983}), the severity, bilaterality, and absolute symmetry of lower limb malformations in both sibs and the association with triradiate acetabula suggested a distinct syndrome.",[609345],[564],[Meckel syndrome],[3436],,,,, +GARD:15459,Active,Orphanet+OMIM,OMIM:609384,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, 3c",,"For a general phenotypic description and a discussion of genetic heterogeneity of the CFEOM3 phenotype, see CFEOM3A ({600638}).",[609384],[45358],[Congenital fibrosis of extraocular muscles],[12590],,,,, +GARD:1546,Legacy,GARD,,,,,,,,,,,,Cortada Koussef Matsumoto syndrome,TRUE,FALSE,Active +GARD:15460,Active,Orphanet+OMIM,OMIM:609470,Subtype of disorder,[Disease subtype],Left ventricular noncompaction 2,,"For a phenotypic description and a discussion of genetic heterogeneity of left ventricular noncompaction (LVNC), see {604169}.",[609470],[54260],[Left ventricular noncompaction],[10985],,,,, +GARD:15461,Active,Orphanet+OMIM,OMIM:609508,Subtype of disorder,[Clinical subtype],"Stickler syndrome, type i, nonsyndromic ocular","[Stickler syndrome, type i, predominantly ocular, stickler syndrome, atypical]",,[609508],[90653],[Stickler syndrome type 1],[5018],,,,, +GARD:15462,Active,Orphanet+OMIM,OMIM:609558,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 6",,"For a general discussion of hereditary prostate cancer, see {176807}.",[609558],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15463,Active,Orphanet+OMIM,OMIM:609572,Subtype of disorder,[Disease subtype],Photoparoxysmal response 2,,"For a phenotypic description and a discussion of genetic heterogeneity of photoparoxysmal response, see PPR1 ({132100}).",[609572],[166409],[Photosensitive epilepsy],[5648],,,,, +GARD:15464,Active,Orphanet+OMIM,OMIM:609573,Subtype of disorder,[Disease subtype],Photoparoxysmal response 3,,"For a phenotypic description and a discussion of genetic heterogeneity of the photoparoxysmal response, see PPR1 ({132100}).",[609573],[166409],[Photosensitive epilepsy],[5648],,,,, +GARD:15465,Active,Orphanet+OMIM,OMIM:609583,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 4,,,[609583],[220497],[Joubert syndrome with renal defect],[10169],,,,, +GARD:15466,Active,Orphanet+OMIM,OMIM:609612,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, with synergistic divergence","[Congenital fibrosis syndrome with synergistic divergence, external ophthalmoplegia with synergistic divergence, External ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation, included]",,[609612],[45358],[Congenital fibrosis of extraocular muscles],[12590],,,,, +GARD:15467,Active,Orphanet+OMIM,OMIM:609630,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 1",,"For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[609630],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15469,Active,Orphanet+OMIM,OMIM:609909,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1p",,,[609909],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:1547,Legacy,GARD,,,,,,,,,,,,Cortes Lacassie syndrome,TRUE,FALSE,Active +GARD:15470,Active,Orphanet+OMIM,OMIM:609915,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1q",,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[609915],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15471,Active,Orphanet+OMIM,OMIM:610092,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 3","[Microphthalmia, colobomatous, isolated 3]",,[610092],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15472,Active,Orphanet+OMIM,OMIM:610181,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 2,,,[610181],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:15473,Active,Orphanet+OMIM,OMIM:610185,Subtype of disorder,[Disease subtype],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2",[Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by {3:Gulsuner et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 ({224050}).",[610185],[1766],[Dysequilibrium syndrome],[1998],,,,, +GARD:15474,Active,Orphanet+OMIM,OMIM:610187,Subtype of disorder,[Morphological anomaly subtype],Diaphragmatic hernia 3,,,[610187],[2140],[Congenital diaphragmatic hernia],[1481],,,,, +GARD:15475,Active,Orphanet+OMIM,OMIM:610188,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 5,,,[610188],[2318],[Joubert syndrome with oculorenal defect],[9455],,,,, +GARD:15476,Active,Orphanet+OMIM,OMIM:610189,Subtype of disorder,[Disease subtype],Senior-loken syndrome 6,,,[610189],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15477,Active,Orphanet+OMIM,OMIM:610283,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 10,,,[610283],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15478,Active,Orphanet+OMIM,OMIM:610321,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 7",,"For a general discussion of hereditary prostate cancer, see {176807}.",[610321],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15479,Active,Orphanet+OMIM,OMIM:610329,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 3,,"Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by {2:Vogt et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 ({225750}).",[610329],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:1548,Active,Orphanet,ORPHA:1389,Disorder,[Malformation syndrome],Cortical blindness-intellectual disability-polydactyly syndrome,,"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.",[218010],,,,,Cortical blindness-intellectual disability-polydactyly syndrome,TRUE,FALSE,Active +GARD:15480,Active,Orphanet+OMIM,OMIM:610333,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 4,,,[610333],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:15481,Active,Orphanet+OMIM,OMIM:610353,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 4","[Epilepsy, familial, with nocturnal wandering and ictal fear]","Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by {1:Aridon et al., 2006}). Some patients with CHRNA2 mutations may have a slightly different phenotype that is more consistent with a clinical diagnosis of benign familial infantile seizures (BFIS6) ({3:Trivisano et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal lobe epilepsy, see ENFL1 ({600513}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).",[610353],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:15482,Active,Orphanet+OMIM,OMIM:610374,Subtype of disorder,[Disease subtype],"Diabetes mellitus, transient neonatal, 2",,,[610374],[99886],[Transient neonatal diabetes mellitus],[1839],,,,, +GARD:15483,Active,Orphanet+OMIM,OMIM:610379,Subtype of disorder,[Disease subtype],"West nile virus, susceptibility to","[Wnv, susceptibility to]","WNV is an enveloped, neurotropic, single-stranded sense RNA flavivirus that is naturally maintained in a zoonotic cycle between avian hosts and mosquito vectors. The virus was first isolated from a Ugandan woman in 1937 and subsequently emerged in Europe and, in 1999, in New York, with eventual spread throughout North America. WNV causes a spectrum of disease ranging from acute fever to lethal encephalitis. Susceptibility to WNV is increased in the elderly and in immunocompromised individuals (summary by {4:Diamond and Klein (2006)} and {5:Glass et al. (2005)}).",[610379],[83476],[West-Nile encephalitis],[9959],,,,, +GARD:15484,Active,Orphanet+OMIM,OMIM:610381,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 11,,,[610381],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15485,Active,Orphanet+OMIM,OMIM:610427,Subtype of disorder,[Disease subtype],"Cone-rod synaptic disorder, congenital nonprogressive","[night blindness, congenital stationary, incomplete, autosomal recessive, formerly, Night blindness, congenital stationary, type 2b, formerly]","Congenital nonprogressive cone-rod synaptic disorder is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses ({6:Traboulsi, 2013}; {4:Khan, 2014}).",[610427],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15486,Active,Orphanet+OMIM,OMIM:610430,Subtype of disorder,[Disease subtype],"Macroglobulinemia, waldenstrom, susceptibility to, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of susceptibility to Waldenstrom macroglobulinemia, see {153600}.",[610430],[33226],[Waldenström macroglobulinemia],[7872],,,,, +GARD:15487,Active,Orphanet+OMIM,OMIM:610444,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, autosomal dominant 3","[Night blindness, congenital stationary, nougaret type]",,[610444],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15488,Active,Orphanet+OMIM,OMIM:610445,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, autosomal dominant 1","[Night blindness, congenital stationary, rhodopsin-related]",,[610445],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15489,Active,Orphanet+OMIM,OMIM:610475,Subtype of disorder,[Disease subtype],"Pigmented nodular adrenocortical disease, primary, 2","[cushing syndrome, adrenal, due to ppnad2, Pigmented micronodular adrenocortical disease, primary, 2]",,[610475],[189439],[Primary pigmented nodular adrenocortical disease],[10906],,,,, +GARD:15490,Active,Orphanet+OMIM,OMIM:610582,Subtype of disorder,[Disease subtype],"Diabetes mellitus, transient neonatal, 3",[Tndm3],,[610582],[99886],[Transient neonatal diabetes mellitus],[1839],,,,, +GARD:15492,Active,Orphanet+OMIM,OMIM:610685,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation with long bone deficiency 2,,"For a general phenotypic description and discussion of genetic heterogeneity of split-hand/foot malformation with long bone deficiency, see SHFLD1 ({119100}).",[610685],[3329],[Tibial aplasia-ectrodactyly syndrome],[1369],,,,, +GARD:15493,Active,Orphanet+OMIM,OMIM:610687,Subtype of disorder,[Disease subtype],Nemaline myopathy 7,,"Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by {2:Ockeloen et al., 2012}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.",[610687],[171436],[Typical nemaline myopathy],[12822],,,,, +GARD:15494,Active,Orphanet+OMIM,OMIM:610688,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 6,,"Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa ({5:Romano et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[610688],[475],[Joubert syndrome],[6802],,,,, +GARD:15495,Active,Orphanet+OMIM,OMIM:610725,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 3","[Nephrotic syndrome, early-onset, type 3]","Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) ({4:Hinkes et al., 2006}).\n\nMost patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen ({2:Gbadegesin et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300}).",[610725],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15496,Active,Orphanet+OMIM,OMIM:610753,Subtype of disorder,[Disease subtype],Alopecia areata 2,,"For a phenotypic description and a discussion of genetic heterogeneity of alopecia areata, see {104000}.",[610753],"[700, 701]","[Alopecia totalis, Alopecia universalis]","[614, 613]",,,,, +GARD:15497,Active,Orphanet+OMIM,OMIM:610756,Subtype of disorder,[Clinical subtype],Cerebrooculofacioskeletal syndrome 2,,,[610756],[1466],[COFS syndrome],[6027],,,,, +GARD:15498,Active,Orphanet+OMIM,OMIM:610758,Subtype of disorder,[Clinical subtype],Cerebrooculofacioskeletal syndrome 4,,"Cerebrooculofacioskeletal syndrome-4 is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by {1:Jaspers et al., 2007} and {2:Kashiyama et al., 2013}).\n\nFor a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see {214150}.",[610758],[1466],[COFS syndrome],[6027],,,,, +GARD:15499,Active,Orphanet+OMIM,OMIM:610759,Subtype of disorder,[Malformation syndrome subtype],Cornelia de lange syndrome 3 with or without midline brain defects,,"Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and impaired intellectual development, hypertrichosis, and sometimes distal limb malformations (summary by {3:Gil-Rodriguez et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.",[610759],[199],[Cornelia de Lange syndrome],[10109],,,,, +GARD:155,Active,Orphanet,ORPHA:2378,Disorder,[Malformation syndrome],Laurin-Sandrow syndrome,"[Mirror hands and feets-nasal defects syndrome, Sandrow syndrome]","Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.",[135750],,,,,Laurin-Sandrow syndrome,TRUE,FALSE,Active +GARD:1550,Active,Orphanet,ORPHA:3071,Disorder,[Malformation syndrome],Costello syndrome,"[FCS syndrome, Faciocutaneoskeletal syndrome]","A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway.",[218040],,,,,Costello syndrome,TRUE,FALSE,Active +GARD:15500,Active,Orphanet+OMIM,OMIM:610832,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group n",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[610832],[84],[Fanconi anemia],[6425],,,,, +GARD:15501,Active,Orphanet+OMIM,OMIM:610840,Subtype of disorder,[Morphological anomaly subtype],Mitral valve prolapse 3,"[Mitral valve prolapse, myxomatous 3, myxomatous mitral valve prolapse 3]","Patients with mitral valve prolapse-3 (MVP3) have nonsyndromic MVP of variable severity with an autosomal dominant pattern of inheritance.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 ({157700}).",[610840],[741],[Familial mitral valve prolapse],[3687],,,,, +GARD:15502,Active,Orphanet+OMIM,OMIM:610852,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 6",,,[610852],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15503,Active,Orphanet+OMIM,OMIM:610896,Subtype of disorder,[Malformation syndrome subtype],Branchiootorenal syndrome 2,,,[610896],[107],[BOR syndrome],[10147],,,,, +GARD:15504,Active,Orphanet+OMIM,OMIM:610988,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 4",,,[610988],[548],[Leprosy],[6886],,,,, +GARD:15505,Active,Orphanet+OMIM,OMIM:610997,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 9",,,[610997],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15506,Active,Orphanet+OMIM,OMIM:611031,Subtype of disorder,[Disease subtype],Episodic kinesigenic dyskinesia 2,,"For a general phenotypic description and a discussion of genetic heterogeneity of episodic kinesigenic dyskinesia (EKD), also referred to as paroxysmal kinesigenic choreoathetosis (PKC), see EKD1 ({128200}).",[611031],[98809],[Paroxysmal kinesigenic dyskinesia],[8721],,,,, +GARD:15507,Active,Orphanet+OMIM,OMIM:611100,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 10",,"For a general discussion of hereditary prostate cancer, see {176807}.",[611100],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15508,Active,Orphanet+OMIM,OMIM:611131,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 37,,,[611131],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15509,Active,Orphanet+OMIM,OMIM:611134,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 4","[Meckel-gruber syndrome, type 4]","Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by {1:Baala et al., 2007}).\n\nFor a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 ({249000}).",[611134],[564],[Meckel syndrome],[3436],,,,, +GARD:1551,Active,Orphanet,ORPHA:2391,Disorder,[Malformation syndrome],Congenitally short costocoracoid ligament,,"A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989.",[122580],,,,,Costocoracoid ligament congenitally short,TRUE,FALSE,Active +GARD:15510,Active,Orphanet+OMIM,OMIM:611147,Subtype of disorder,[Disease subtype],Paroxysmal nonkinesigenic dyskinesia 2,,"For a general phenotypic description of paroxysmal nonkinesigenic dyskinesia, see PNKD1 ({118800}).",[611147],[98810],[Paroxysmal non-kinesigenic dyskinesia],[8722],,,,, +GARD:15511,Active,Orphanet+OMIM,OMIM:611263,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 2 with or without polydactyly,[Asphyxiating thoracic dystrophy 2],"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {4:Huber and Cormier-Daire, 2012} and {5:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[611263],[474],[Jeune syndrome],[3049],,,,, +GARD:15512,Active,Orphanet+OMIM,OMIM:611363,Subtype of disorder,[Clinical subtype],Atrial septal defect 4,,,[611363],[99103],"[Atrial septal defect, ostium secundum type]",[5865],,,,, +GARD:15513,Active,Orphanet+OMIM,OMIM:611364,Subtype of disorder,[Disease subtype],"Myoclonic epilepsy, juvenile, susceptibility to, 4",,"For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy (JME), see {254770}. JME is a form of idiopathic generalized epilepsy (IGE; {600669}).",[611364],[307],[Juvenile myoclonic epilepsy],[6808],,,,, +GARD:15514,Active,Orphanet+OMIM,OMIM:611383,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iid",,"Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes ({4:Eudy et al., 1998}).\n\nSee {276900} for clinical characterization of Usher syndrome types I, II, and III.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A ({276901}).",[611383],[231178],[Usher syndrome type 2],[5440],,,,, +GARD:15515,Active,Orphanet+OMIM,OMIM:611407,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1w",,,[611407],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15516,Active,Orphanet+OMIM,OMIM:611493,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 4",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[611493],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15517,Active,Orphanet+OMIM,OMIM:611494,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 5",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({2:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[611494],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15518,Active,Orphanet+OMIM,OMIM:611554,Subtype of disorder,[Malformation syndrome subtype],Leopard syndrome 2,,,[611554],[500],[Noonan syndrome with multiple lentigines],[1100],,,,, +GARD:15519,Active,Orphanet+OMIM,OMIM:611560,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 7,,,[611560],[220497],[Joubert syndrome with renal defect],[10169],,,,, +GARD:15520,Active,Orphanet+OMIM,OMIM:611561,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 5",,,[611561],[564],[Meckel syndrome],[3436],,,,, +GARD:15521,Active,Orphanet+OMIM,OMIM:611584,Subtype of disorder,[Clinical subtype],"Waardenburg syndrome, type 2e","[waardenburg syndrome, type 2e, with or without neurologic involvement, Hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation, waardenburg syndrome, type iie, ws2e, with or without neurologic involvement]","Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by {9:Read and Newton, 1997}). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene ({602229}), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580}).",[611584],[895],[Waardenburg syndrome type 2],[5520],,,,, +GARD:15522,Active,Orphanet+OMIM,OMIM:611615,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1x","[Cardiomyopathy, dilated, with mild or no proximal muscle weakness]",,[611615],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15523,Active,Orphanet+OMIM,OMIM:611631,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see {600512}.",[611631],[98819],[Familial temporal lobe epilepsy],[5135],,,,, +GARD:15524,Active,Orphanet+OMIM,OMIM:611638,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 5",,,[611638],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15525,Active,Orphanet+OMIM,OMIM:611644,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 9",,"The disorder described by {5:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[611644],[388],[Hirschsprung disease],[6660],,,,, +GARD:15526,Active,Orphanet+OMIM,OMIM:611777,Subtype of disorder,[Disease subtype],Brugada syndrome 2,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[611777],[130],[Brugada syndrome],[1030],,,,, +GARD:15527,Active,Orphanet+OMIM,OMIM:611788,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 6",[Familial thoracic aortic aneurysm with livedo reticularis and iris flocculi],,[611788],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:15528,Active,Orphanet+OMIM,OMIM:611804,Subtype of disorder,[Disease subtype],Elliptocytosis 1,"[4.1-minus trait, Elliptocytosis, rhesus-linked type, 4.1- trait, protein 4.1 of erythrocyte membrane, defect of]","Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Usually inherited as an autosomal dominant trait, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton (summary by {24:McGuire et al., 1988}).\n\n<Subhead> Genetic Heterogeneity of Elliptocytosis\n\nElliptocytosis-2 ({130600}) is caused by mutation in the SPTA1 gene ({182860}). Elliptocytosis-3 ({617948}) is caused by mutation in the SPTB gene ({182870}). Elliptocytosis-4 ({166900}), also known as Southeast Asian ovalocytosis, is caused by mutation in the SLC4A1 gene ({109270}). Also see pyropoikilocytosis ({266140}).\n\nSee {11:Delaunay (2007)} for a discussion of the molecular basis of hereditary red cell membrane disorders.",[611804],[288],[Hereditary elliptocytosis],[6621],,,,, +GARD:15529,Active,Orphanet+OMIM,OMIM:611868,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 12",,,[611868],[1331],[Familial prostate cancer],[4520],,,,, +GARD:1553,Legacy,GARD,,,,,,,,,,,,Arthrogryposis and ectodermal dysplasia,TRUE,FALSE,Active +GARD:15530,Active,Orphanet+OMIM,OMIM:611878,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1y",,"Dilated cardiomyopathy-1Y (CMD1Y) is characterized by severe progressive cardiac failure, resulting in death in the third to sixth decades of life in some patients. Electron microscopy shows an abnormal sarcomere structure ({3:Olson et al., 2001}).\n\nIn left ventricular noncompaction-9 (LVNC9), patients may present with cardiac failure or may be asymptomatic. Echocardiography shows noncompaction of the apex and midventricular wall of the left ventricle ({4:Probst et al., 2011}). Some patients also exhibit Ebstein anomaly of the tricuspid valve ({1:Kelle et al., 2016}) and some have mitral valve insufficiency ({2:Nijak et al., 2018}).",[611878],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15531,Active,Orphanet+OMIM,OMIM:611879,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1z",,,[611879],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15532,Active,Orphanet+OMIM,OMIM:611880,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 2a","[cardiomyopathy, congestive, autosomal recessive, Cardiomyopathy, dilated, autosomal recessive]",,[611880],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15533,Active,Orphanet+OMIM,OMIM:611884,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 7","[Ciliary dyskinesia, primary, 7, with or without situs inversus]","Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus ({1:Afzelius, 1976}; {3:El Zein et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 ({244400}).",[611884],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15534,Active,Orphanet+OMIM,OMIM:611928,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 13",,,[611928],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15535,Active,Orphanet+OMIM,OMIM:611938,Subtype of disorder,[Disease subtype],"Ventricular tachycardia, catecholaminergic polymorphic, 2","[Ventricular tachycardia, stress-induced polymorphic]",,[611938],[3286],[Catecholaminergic polymorphic ventricular tachycardia],[4421],,,,, +GARD:15536,Active,Orphanet+OMIM,OMIM:611955,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 11",,"For a general discussion of hereditary prostate cancer, see {176807}.",[611955],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15537,Active,Orphanet+OMIM,OMIM:611958,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 14",,"For a general discussion of hereditary prostate cancer, see {176807}.",[611958],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15538,Active,Orphanet+OMIM,OMIM:611959,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 15",,"For a general discussion of hereditary prostate cancer, see {176807}.",[611959],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15539,Active,Orphanet+OMIM,OMIM:612016,Subtype of disorder,[Disease subtype],"Coenzyme q10 deficiency, primary, 4","[Spinocerebellar ataxia, autosomal recessive 9]","Primary coenzyme Q10 deficiency-4 (COQ10D4) is an autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Some affected individuals develop seizures and have mild mental impairment, indicating variable severity. Oral coenzyme Q10 supplementation does not result in significant improvement of neurologic symptoms (summary by {4:Mollet et al., 2008} and {2:Lagier-Tourenne et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 ({607426}).",[612016],[139485],[Autosomal recessive ataxia due to ubiquinone deficiency],[10294],,,,, +GARD:1554,Legacy,GARD,,,,,,,,,,,,Cote Katsantoni syndrome,TRUE,FALSE,Active +GARD:15540,Active,Orphanet+OMIM,OMIM:612069,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia,,,[612069],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,,,, +GARD:15541,Active,Orphanet+OMIM,OMIM:612076,Subtype of disorder,[Malformation syndrome subtype],"Hypouricemia, renal, 2",,"Renal hypouricemia is a common inherited disorder characterized by impaired renal urate reabsorption and subsequent low serum urate levels. It may be associated with severe complications such as exercise-induced acute renal failure (EIARF) and nephrolithiasis (summary by {7:Matsuo et al., 2008}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of renal hypouricemia, see RHUC1 ({220150}).",[612076],[94088],[Hereditary renal hypouricemia],[9496],,,,, +GARD:15542,Active,Orphanet+OMIM,OMIM:612132,Subtype of disorder,[Disease subtype],Ectodermal dysplasia and immunodeficiency 2,"[ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant, ectodermal dysplasia, hypohidrotic, with immunodeficiency 2, Ectodermal dysplasia, anhidrotic, with immunodeficiency 2]","EDAID2 is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by {1:Boisson et al., 2017}).\n\nMutations in the NFKBIA gene result in functional impairment of NFKB (see {164011}), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection ({8:McDonald et al., 2007}).\n\nFor discussion of genetic heterogeneity of ectodermal dysplasia and immune deficiency, see {300291}.",[612132],[98813],[Hypohidrotic ectodermal dysplasia with immunodeficiency],[9936],,,,, +GARD:15543,Active,Orphanet+OMIM,OMIM:612158,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction",,,[612158],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15544,Active,Orphanet+OMIM,OMIM:612201,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 6",,"Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({2:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[612201],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15545,Active,Orphanet+OMIM,OMIM:612240,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 7",,"Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[612240],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15546,Active,Orphanet+OMIM,OMIM:612274,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 8",,"For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 ({244400}).",[612274],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15547,Active,Orphanet+OMIM,OMIM:612281,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 6","[Ichthyosis, congenital, autosomal recessive, nipal4-related]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({8:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[612281],"[79394, 313]","[Lamellar ichthyosis, Congenital non-bullous ichthyosiform erythroderma]","[10803, 9736]",,,,, +GARD:15548,Active,Orphanet+OMIM,OMIM:612284,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 6",,,[612284],[564],[Meckel syndrome],[3436],,,,, +GARD:15549,Active,Orphanet+OMIM,OMIM:612285,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 9,,"Joubert syndrome-9 (JBTS9) is an autosomal recessive disorder characterized by hypotonia, ataxia, developmental delay, abnormal eye movements, and abnormal respiratory control. Variable features include retinal dystrophy, kidney disease, and seizures. Brain imaging shows cerebellar vermis hypoplasia and the 'molar tooth sign.' Brain imaging may also show ventriculomegaly ({1:Bachmann-Gagescu et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBST1 ({213300}).",[612285],[2318],[Joubert syndrome with oculorenal defect],[9455],,,,, +GARD:1555,Active,Orphanet,ORPHA:93333,Disorder,[Malformation syndrome],Pelviscapular dysplasia,"[Cousin syndrome, Familial pelvis-scapular dysplasia]","Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.",[260660],,,,,Cousin syndrome,TRUE,FALSE,Active +GARD:15550,Active,Orphanet+OMIM,OMIM:612291,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 8,,,[612291],[475],[Joubert syndrome],[6802],,,,, +GARD:15551,Active,Orphanet+OMIM,OMIM:612293,Subtype of disorder,[Disease subtype],"Porokeratosis 5, disseminated superficial actinic type",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({2:Schamroth et al., 1997}). However, as noted by {3:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[612293],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:15552,Active,Orphanet+OMIM,OMIM:612353,Subtype of disorder,[Disease subtype],"Porokeratosis 6, multiple types",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({1:Schamroth et al., 1997}). However, as noted by {2:Sybert (2010)}, reports of several families with expression of more than one variant of porokeratosis among members, and of individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).",[612353],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:15553,Active,Orphanet+OMIM,OMIM:612389,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2b",,"Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}).",[612389],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:15554,Active,Orphanet+OMIM,OMIM:612390,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2c",,"Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}).",[612390],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:15555,Active,Orphanet+OMIM,OMIM:612417,Subtype of disorder,[Disease subtype],"Narcolepsy 4, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[612417],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15556,Active,Orphanet+OMIM,OMIM:612437,Subtype of disorder,[Malformation syndrome subtype],"Epilepsy, progressive myoclonic, 1b",,,[612437],[308],[Progressive myoclonic epilepsy type 1],[3876],,,,, +GARD:15557,Active,Orphanet+OMIM,OMIM:612438,Subtype of disorder,[Disease subtype],"Leukodystrophy, hypomyelinating, 6","[Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum]","Hypomyelinating leukodystrophy-6, also known as hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum, is a neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen. The disorder usually shows sporadic occurrence, but sibs may be affected if a parent is somatic mosaic for the mutation (summary by {8:Simons et al., 2013}).\n\nHypomyelinating leukodystrophies (HLD) comprise a genetically heterogeneous entity in which there is a substantial permanent deficit in myelin deposition within the brain, resulting in neurologic deficits ({10:van der Knaap et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.",[612438],[139441],[Hypomyelination with atrophy of basal ganglia and cerebellum],[10917],,,,, +GARD:15558,Active,Orphanet+OMIM,OMIM:612444,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 9","[Ciliary dyskinesia, primary, 9, with or without situs inversus]","Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus ({1:Afzelius, 1976}; {2:El Zein et al., 2003}).\n\nFor a general description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 ({244400}).",[612444],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15559,Active,Orphanet+OMIM,OMIM:612469,Subtype of disorder,[Malformation syndrome subtype],"Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome",,"For a detailed discussion of the WAGR syndrome, see {194072}. In a subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is associated with haploinsufficiency for the BDNF gene.",[612469],[893],[WAGR syndrome],[5528],,,,, +GARD:15560,Active,Orphanet+OMIM,OMIM:612518,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 10","[Ciliary dyskinesia, primary, 10, with or without situs inversus]",,[612518],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15561,Active,Orphanet+OMIM,OMIM:612527,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 4,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612527],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15562,Active,Orphanet+OMIM,OMIM:612528,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 5,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {2:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612528],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15563,Active,Orphanet+OMIM,OMIM:612529,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia2","[Amelogenesis imperfecta, pigmented hypomaturation type, 2]","Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({6:Witkop, 1988}).",[612529],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:15564,Active,Orphanet+OMIM,OMIM:612551,Subtype of disorder,[Disease subtype],"Focal segmental glomerulosclerosis 4, susceptibility to","[End-stage renal disease, nondiabetic, susceptibility to, included]","Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) ({4:Meyrier, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[612551],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15565,Active,Orphanet+OMIM,OMIM:612557,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 3",,"For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[612557],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15566,Active,Orphanet+OMIM,OMIM:612558,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 4",,"For a phenotypic description and discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[612558],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15567,Active,Orphanet+OMIM,OMIM:612559,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 5",,"For a phenotypic description and discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[612559],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15568,Active,Orphanet+OMIM,OMIM:612561,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 6,[Aase-smith syndrome ii],"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {7:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612561],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15569,Active,Orphanet+OMIM,OMIM:612562,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 7,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {3:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612562],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15570,Active,Orphanet+OMIM,OMIM:612563,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 8,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612563],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15571,Active,Orphanet+OMIM,OMIM:612572,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 46,"[Retinitis pigmentosa, autosomal recessive, idh3b-related]","Retinitis pigmentosa-46 (RP46) is characterized by night blindness, loss of peripheral vision, and reduced visual acuity. Funduscopic findings are typical of RP, including pale optic discs, attenuated retinal vessels, and intraretinal pigment deposits. Electroretinography shows substantial loss of rod and cone photoreceptor function ({1:Hartong et al., 2008}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[612572],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15572,Active,Orphanet+OMIM,OMIM:612576,Subtype of disorder,[Malformation syndrome subtype],"Chromosome 17p13.3, telomeric, duplication syndrome",,,[612576],[3329],[Tibial aplasia-ectrodactyly syndrome],[1369],,,,, +GARD:15573,Active,Orphanet+OMIM,OMIM:612632,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ih",,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({2:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900}).",[612632],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:15574,Active,Orphanet+OMIM,OMIM:612649,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 11","[Ciliary dyskinesia, primary, 11, without situs inversus]",,[612649],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15575,Active,Orphanet+OMIM,OMIM:612650,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 12","[Ciliary dyskinesia, primary, 12, without situs inversus]",,[612650],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15576,Active,Orphanet+OMIM,OMIM:612653,Subtype of disorder,[Disease subtype],"Spherocytosis, type 4","[Spherocytosis, hereditary, 4]",,[612653],[822],[Hereditary spherocytosis],[6639],,,,, +GARD:15577,Active,Orphanet+OMIM,OMIM:612657,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 12,,,[612657],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15578,Active,Orphanet+OMIM,OMIM:612690,Subtype of disorder,[Disease subtype],"Spherocytosis, type 5","[Spherocytosis, hereditary, 5]",,[612690],[822],[Hereditary spherocytosis],[6639],,,,, +GARD:15579,Active,Orphanet+OMIM,OMIM:612692,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 6, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to cd79b defect]",,[612692],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:1558,Active,Orphanet,ORPHA:1508,Disorder,[Malformation syndrome],Coxoauricular syndrome,,"Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.",[122780],,,,,Coxoauricular syndrome,TRUE,FALSE,Active +GARD:15580,Active,Orphanet+OMIM,OMIM:612703,Subtype of disorder,[Etiological subtype],"Microcephaly 7, primary, autosomal recessive",,,[612703],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15581,Active,Orphanet+OMIM,OMIM:612715,Subtype of disorder,[Disease subtype],Dyschromatosis universalis hereditaria 2,,"Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by {3:Zhang et al., 2013}).\n\nFor a discussion of genetic heterogeneity of dyschromatosis universalis hereditaria, see DUH1 ({127500}).",[612715],[241],[Dyschromatosis universalis hereditaria],[1996],,,,, +GARD:15582,Active,Orphanet+OMIM,OMIM:612775,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 9,,,[612775],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15583,Active,Orphanet+OMIM,OMIM:612798,Subtype of disorder,[Malformation syndrome subtype],"Question mark ears, isolated","[auricular cleft, congenital, Ears, prominent and constricted, cosman deformity of the auricle]","Question mark ear is an auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. It is more prevalent among boys than girls (2:1), usually sporadic, and can be unilateral or bilateral ({7:Shkalim et al., 2008}).",[612798],[137888],[Auriculocondylar syndrome],[9798],,,,, +GARD:15584,Active,Orphanet+OMIM,OMIM:612838,Subtype of disorder,[Disease subtype],Brugada syndrome 5,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[612838],[130],[Brugada syndrome],[1030],,,,, +GARD:15585,Active,Orphanet+OMIM,OMIM:612841,Subtype of disorder,[Disease subtype],Hypotrichosis 5,[Marie unna hereditary hypotrichosis 2],"Hypotrichosis-5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), is a form of hereditary hypotrichosis characterized by twisting hair. Affected individuals have little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal (summary by {3:Zhang et al., 2012}).\n\nFor a general phenotypic description of Marie Unna hereditary hypotrichosis, see MUHH1 ({146550}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.",[612841],[444],[Marie Unna hereditary hypotrichosis],[3390],,,,, +GARD:15586,Active,Orphanet+OMIM,OMIM:612843,Subtype of disorder,[Disease subtype],"Keratosis follicularis spinulosa decalvans, autosomal dominant",,"Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis characterized by follicular hyperkeratosis, progressive cicatricial alopecia, and photophobia. Most reported cases show X-linked inheritance (KFSDX; {308800}) ({2:Castori et al., 2009}).",[612843],[2340],[Keratosis follicularis spinulosa decalvans],[6829],,,,, +GARD:15587,Active,Orphanet+OMIM,OMIM:612851,Subtype of disorder,[Disease subtype],"Narcolepsy 5, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[612851],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15588,Active,Orphanet+OMIM,OMIM:612877,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1bb",,"Dilated cardiomyopathy-1BB (CMD1BB) is a life-threatening, intractable disease characterized by ventricular dilation and thinning ({2:Shiba et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[612877],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15589,Active,Orphanet+OMIM,OMIM:612881,Subtype of disorder,[Clinical subtype],"Chromosome 5q14.3 deletion syndrome, distal",,,[612881],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:15590,Active,Orphanet+OMIM,OMIM:612908,Subtype of disorder,[Disease subtype],Keratosis palmoplantaris striata ii,"[striate palmoplantar keratoderma ii, Keratoderma, palmoplantar, striate form ii]","PPKS2 is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor. Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be present. ({1:Armstrong et al., 1999}; {3:Whittock et al., 1999}).\n\nFor a discussion of genetic heterogeneity of the striate form of palmoplantar keratoderma, see PPKS1 ({148700}).",[612908],[50942],[Striate palmoplantar keratoderma],[15016],,,,, +GARD:15591,Active,Orphanet+OMIM,OMIM:612921,Subtype of disorder,[Malformation syndrome subtype],Three m syndrome 2,[3m syndrome 2],"3M syndrome-2 (3M2) is characterized by low birth weight and short stature, relative macrocephaly, lumbar hyperlordosis, and prominent heels. Dysmorphic facial features include triangular face with frontal bossing and midface hypoplasia, anteverted nares with fleshy nasal tip, and full fleshy lips ({3:Hanson et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 ({273750}).",[612921],[2616],[3M syndrome],[5667],,,,, +GARD:15592,Active,Orphanet+OMIM,OMIM:612936,Subtype of disorder,[Disease subtype],"Spastic paraplegia 50, autosomal recessive","[Cerebral palsy, spastic quadriplegic, 3, formerly]","Spastic paraplegia-50 (SPG50) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severely impaired intellectual development with poor or absent speech development (summary by {3:Verkerk et al., 2009}).",[612936],[280763],[Severe intellectual disability and progressive spastic paraplegia],[10999],,,,, +GARD:15593,Active,Orphanet+OMIM,OMIM:612943,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 42,,,[612943],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15595,Active,Orphanet+OMIM,OMIM:612955,Subtype of disorder,[Disease subtype],Long qt syndrome 12,,"Congenital long QT syndrome (LQTS) is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({1:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[612955],[101016],[Romano-Ward syndrome],[3284],,,,, +GARD:15596,Active,Orphanet+OMIM,OMIM:612956,Subtype of disorder,[Disease subtype],"Ventricular fibrillation, paroxysmal familial, 2",,,[612956],[228140],"[Idiopathic ventricular fibrillation, non Brugada type]",[4227],,,,, +GARD:15597,Active,Orphanet+OMIM,OMIM:612961,Subtype of disorder,[Malformation syndrome subtype],Multiple synostoses syndrome 3,,,[612961],[3237],[Multiple synostoses syndrome],[3836],,,,, +GARD:15598,Active,Orphanet+OMIM,OMIM:612965,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 3","[disorder of sex development, 46,xy, nr5a1-related, 46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure, sex reversal, xy, with or without adrenal failure, 46,xy sex reversal, partial or complete, nr5a1-related]",,[612965],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,,,, +GARD:15599,Active,Orphanet+OMIM,OMIM:612968,Subtype of disorder,[Morphological anomaly subtype],"Cataract 34, multiple types","[Cataract 34, multiple types, with or without microcornea, cataract, autosomal recessive congenital 3]","Mutations in the FOXE3 gene have been found to cause multiple types of cataract, which have been described as membranous and posterior subcapsular.",[612968],[708],[Peters anomaly],[7377],,,,, +GARD:156,Active,Orphanet,ORPHA:588,Disorder,[Malformation syndrome],Muscle-eye-brain disease,"[MEB syndrome, Muscle-eye-brain syndrome, Santavuori congenital muscular dystrophy]","A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.","[613153, 613150, 613154, 615350, 253800, 615181, 236670, 253280]",,,,,Muscle eye brain disease,TRUE,FALSE,Active +GARD:15600,Active,Orphanet+OMIM,OMIM:613002,Subtype of disorder,[Disease subtype],"Immunodeficiency 83, susceptibility to viral infections",,"Immunodeficiency-83 (IMD83) is characterized by increased susceptibility to severe viral infections, including herpes simplex virus (HSV), varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and possibly respiratory syncytial virus (RSV). The age at onset varies widely from infancy to adults, and there is incomplete penetrance. The susceptibility to encephalitis or pneumonitis appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the central nervous system (CNS) or lung epithelial cells (review by {8:Zhang et al., 2013}; summary by {5:Mork et al., 2015}; {7:Sironi et al., 2017}, {3:Lim et al., 2019}, {6:Partanen et al., 2020}).\n\nFor a general phenotypic description of herpes simplex encephalitis and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see {610551}.",[613002],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:15601,Active,Orphanet+OMIM,OMIM:613007,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 2",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {2:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720}).",[613007],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15602,Active,Orphanet+OMIM,OMIM:613008,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 3",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {2:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720}).",[613008],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15603,Active,Orphanet+OMIM,OMIM:613013,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 2",,,[613013],[635],[Neuroblastoma],[7185],,,,, +GARD:15604,Active,Orphanet+OMIM,OMIM:613014,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 3",,,[613014],[635],[Neuroblastoma],[7185],,,,, +GARD:15605,Active,Orphanet+OMIM,OMIM:613015,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700}).",[613015],[635],[Neuroblastoma],[7185],,,,, +GARD:15606,Active,Orphanet+OMIM,OMIM:613016,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 5",,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700}).",[613016],[635],[Neuroblastoma],[7185],,,,, +GARD:15607,Active,Orphanet+OMIM,OMIM:613017,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 6",,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700}).",[613017],[635],[Neuroblastoma],[7185],,,,, +GARD:15608,Active,Orphanet+OMIM,OMIM:613024,Subtype of disorder,[Disease subtype],"Follicular lymphoma, susceptibility to, 1",,"Follicular non-Hodgkin lymphoma is an indolent B-cell malignancy with an annual incidence exceeding 10,000 cases in the United States ({2:Bohen et al., 2003}). One form of susceptibility to follicular lymphoma (FL1) is associated with a region on chromosome 6p21.33.",[613024],[545],[Follicular lymphoma],[2356],,,,, +GARD:15609,Active,Orphanet+OMIM,OMIM:613055,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 8",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({2:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[613055],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:1561,Active,Orphanet,ORPHA:202,Disorder,[Disease],Crandall syndrome,"[Alopecia-deafness-hypogonadism syndrome, Alopecia-hearing loss-hypogonadism syndrome, Alopecia-sensorineural deafness-hypogonadism syndrome, Alopecia-sensorineural hearing loss-hypogonadism syndrome]","Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad's syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.",,,,,,Crandall syndrome,TRUE,FALSE,Active +GARD:15610,Active,Orphanet+OMIM,OMIM:613073,Subtype of disorder,[Disease subtype],Metaphyseal anadysplasia 2,,,[613073],[1040],[Metaphyseal anadysplasia],[3562],,,,, +GARD:15611,Active,Orphanet+OMIM,OMIM:613080,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 5","[46,xy gonadal dysgenesis, complete, cbx2-related, 46,xy sex reversal, cbx2-related, disorder of sex development, 46,xy, cbx2-related, sex reversal, xy, cbx2-related]",,[613080],[242],"[46,XY complete gonadal dysgenesis]",[5068],,,,, +GARD:15612,Active,Orphanet+OMIM,OMIM:613090,Subtype of disorder,[Clinical subtype],"Bartter syndrome, type 4b, neonatal, with sensorineural deafness",,"Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed ({4:Simon et al., 1997}).\n\nPatients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by {5:Simon et al., 1996} and {1:Fremont and Chan, 2012}).\n\nFor a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.",[613090],[89938],[Bartter syndrome type 4],[10508],,,,, +GARD:15613,Active,Orphanet+OMIM,OMIM:613091,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 3 with or without polydactyly,"[short rib-polydactyly syndrome, type i, saldino-noonan syndrome, polydactyly with neonatal chondrodystrophy, type i, short rib-polydactyly syndrome, type iii, verma-naumoff syndrome, polydactyly with neonatal chondrodystrophy, type iii, short rib-polydactyly syndrome, type iib, Asphyxiating thoracic dystrophy 3]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {7:Huber and Cormier-Daire, 2012} and {21:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[613091],"[93271, 93269, 474]","[Short rib-polydactyly syndrome, Majewski type, Short rib-polydactyly syndrome, Verma-Naumoff type, Jeune syndrome]","[4833, 3049, 4835]",,,,, +GARD:15614,Active,Orphanet+OMIM,OMIM:613101,Subtype of disorder,[Disease subtype],"Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease",,"Familial hemophagocytic lymphohistiocytosis-5 with or without microvillus inclusion disease (FHL5) is an autosomal recessive hyperinflammatory disorder characterized clinically by fever, hepatosplenomegaly, pancytopenia, coagulation abnormalities, and other laboratory findings. Some patients have neurologic symptoms due to inflammatory CNS disease. There is uncontrolled and ineffective proliferation and activation of T lymphocytes, NK cells, and macrophages that infiltrate multiple organs, including liver, spleen, lymph nodes, and the CNS. The phenotype is variable: some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease (see MVID, {251850}). The enteropathy, which often necessitates parenteral feeding, may be the most life-threatening issue even after hematopoietic stem cell transplantation (HSCT). More variable features include sensorineural hearing loss and hypogammaglobulinemia. Treatment with immunosuppressive drugs and chemotherapy can ameliorate signs and symptoms of FHL in some patients, but the only curative therapy for FHL is HSCT. HSCT is not curative for enteropathy associated with the disorder, despite hematologic and immunologic reconstitution (summary by {7:Meeths et al., 2010}; {8:Pagel et al., 2012}; {10:Stepensky et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL, HLH), see {267700}.",[613101],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,,,, +GARD:15615,Active,Orphanet+OMIM,OMIM:613105,Subtype of disorder,[Disease subtype],"Choroidal dystrophy, central areolar 2","[Macular dystrophy, progressive]","Central areolar choroidal dystrophy-2 (CACD2) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by {2:Boon et al., 2009}).\n\nFor a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 ({215500}).",[613105],[75377],[Central areolar choroidal dystrophy],[10049],,,,, +GARD:15616,Active,Orphanet+OMIM,OMIM:613107,Subtype of disorder,[Disease subtype],"Neutropenia, severe congenital, 2, autosomal dominant",,,[613107],[486],[Autosomal dominant severe congenital neutropenia],[9558],,,,, +GARD:15617,Active,Orphanet+OMIM,OMIM:613108,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 4","[Candidiasis, familial chronic mucocutaneous]",,[613108],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15618,Active,Orphanet+OMIM,OMIM:613115,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory and autonomic, type iib",,"Hereditary sensory and autonomic neuropathy type IIB (HSAN2B) is an autosomal recessive neurologic disorder characterized by early childhood onset of distal sensory impairment usually resulting in ulceration and associated with variable autonomic features, such as hyperhidrosis and urinary incontinence. Some patients may show impaired gait (summary by {1:Ilgaz Aydinlar et al., 2014}).\n\nHSAN2A ({201300}) is caused by mutation in the HSN2 isoform of the WNK1 gene (WNK1/HSN2; see {605232}). For a discussion of genetic heterogeneity of HSAN, see HSAN1 ({162400}).",[613115],[970],[Hereditary sensory and autonomic neuropathy type 2],[3976],,,,, +GARD:15619,Active,Orphanet+OMIM,OMIM:613119,Subtype of disorder,[Disease subtype],Brugada syndrome 6,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[613119],[130],[Brugada syndrome],[1030],,,,, +GARD:15620,Active,Orphanet+OMIM,OMIM:613120,Subtype of disorder,[Disease subtype],Brugada syndrome 7,,"<Subhead> Brugada Syndrome 7\n\nBrugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).\n\n<Subhead> Atrial Fibrillation 16\n\nAtrial fibrillation (AF) is the most common cardiac arrhythmia in the clinical setting, with a prevalence of 1% in the general population; prevalence increases with age and reaches more than 8% in the ninth decade of life. AF accounts for more than 15% of strokes, and is associated with worsening heart failure and increased mortality. More than 30% of cases of AF are considered to be 'lone AF,' unassociated with coronary artery disease, hypertension, valvular heart disease, hyperthyroidism, heart failure, or structural heart disease (summary by {4:Wang et al., 2010}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see ATFB1 ({608583}).",[613120],[130],[Brugada syndrome],[1030],,,,, +GARD:15621,Active,Orphanet+OMIM,OMIM:613122,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1cc",,,[613122],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15622,Active,Orphanet+OMIM,OMIM:613123,Subtype of disorder,[Disease subtype],Brugada syndrome 8,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[613123],[130],[Brugada syndrome],[1030],,,,, +GARD:15623,Active,Orphanet+OMIM,OMIM:613144,Subtype of disorder,[Disease subtype],"Choroidal dystrophy, central areolar, 3","[Choroidal dystrophy, central areolar, with or without drusen]","For a general phenotypic description and a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 ({215500}).",[613144],[75377],[Central areolar choroidal dystrophy],[10049],,,,, +GARD:15624,Active,Orphanet+OMIM,OMIM:613150,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2","[Walker-warburg syndrome or muscle-eye-brain disease, pomt2-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' ({5:van Reeuwijk et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[613150],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15625,Active,Orphanet+OMIM,OMIM:613153,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5","[Walker-warburg syndrome or muscle-eye-brain disease, fkrp-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' ({1:Beltran-Valero de Bernabe et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[613153],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15626,Active,Orphanet+OMIM,OMIM:613154,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6","[Walker-warburg syndrome or muscle-eye-brain disease, large-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' ({2:Godfrey et al., 2007}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[613154],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15627,Active,Orphanet+OMIM,OMIM:613172,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1dd",,,[613172],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15628,Active,Orphanet+OMIM,OMIM:613193,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 13","[Ciliary dyskinesia, primary, 13, with or without situs inversus]",,[613193],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15629,Active,Orphanet+OMIM,OMIM:613194,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 50,,,[613194],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15630,Active,Orphanet+OMIM,OMIM:613211,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia3",,,[613211],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:15631,Active,Orphanet+OMIM,OMIM:613216,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1c","[Csnb, complete, autosomal recessive]",,[613216],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15632,Active,Orphanet+OMIM,OMIM:613223,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 5",,,[613223],[548],[Leprosy],[6886],,,,, +GARD:15633,Active,Orphanet+OMIM,OMIM:613225,Subtype of disorder,[Disease subtype],"Factor xiii, a subunit, deficiency of",,"Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit ({26:Kangsadalampai et al., 1999}).\n\n{21,22:Ichinose et al. (1996, 2000)} proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.",[613225],[331],[Congenital factor XIII deficiency],[10766],,,,, +GARD:15634,Active,Orphanet+OMIM,OMIM:613227,Subtype of disorder,[Disease subtype],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3",[Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by {1:Gulsuner et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 ({224050}).",[613227],[1766],[Dysequilibrium syndrome],[1998],,,,, +GARD:15635,Active,Orphanet+OMIM,OMIM:613235,Subtype of disorder,[Disease subtype],"Factor xiii, b subunit, deficiency of",,"Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit ({4:Kangsadalampai et al., 1999}).\n\n{2,3:Ichinose et al. (1996, 2000)} proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.",[613235],[331],[Congenital factor XIII deficiency],[10766],,,,, +GARD:15636,Active,Orphanet+OMIM,OMIM:613237,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 5,"[Glomerulosclerosis, focal segmental, 5]","Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) ({3:Meyrier, 2005}).\n\nDominant intermediate Charcot-Marie-Tooth disease E and focal segmental glomerulonephritis (CMTDIE; {614455}) is also caused by heterozygous mutation in the INF2 gene.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[613237],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15637,Active,Orphanet+OMIM,OMIM:613239,Subtype of disorder,[Disease subtype],"Thyrotoxic periodic paralysis, susceptibility to, 2",,,[613239],[79102],[Thyrotoxic periodic paralysis],[10814],,,,, +GARD:15638,Active,Orphanet+OMIM,OMIM:613244,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 8",,,[613244],[144],[Lynch syndrome],[9905],,,,, +GARD:15639,Active,Orphanet+OMIM,OMIM:613252,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1ee",,,[613252],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:1564,Active,Orphanet,ORPHA:1525,Disorder,[Malformation syndrome],Cranio-osteoarthropathy,"[Currarino disease, Currarino idiopathic osteoarthropathy, Reginato-Schiapachasse syndrome]","Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.",[259100],,,,,Cranio osteoarthropathy,TRUE,FALSE,Active +GARD:15640,Active,Orphanet+OMIM,OMIM:613254,Subtype of disorder,[Disease subtype],Tuberous sclerosis 2,,"Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 ({191100}), caused by mutation in the TSC1 gene ({605284}) on chromosome 9q34.\n\nApproximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).",[613254],[805],[Tuberous sclerosis complex],[7830],,,,, +GARD:15641,Active,Orphanet+OMIM,OMIM:613265,Subtype of disorder,[Disease subtype],"Waardenburg syndrome, type 4b","[Waardenburg syndrome, type 4b, with hirschsprung disease, waardenburg syndrome, type ivb]","Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by {5:Read and Newton, 1997}). WS type 4B is caused by mutation in the EDN3 gene ({131242}). WS type 4 is genetically heterogeneous (see WS4A; {277580}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS2 ({193510}), and WS3 ({148820}).",[613265],[897],[Waardenburg-Shah syndrome],[5524],,,,, +GARD:15642,Active,Orphanet+OMIM,OMIM:613266,Subtype of disorder,[Disease subtype],"Waardenburg syndrome, type 4c","[Waardenburg syndrome with hirschsprung disease, type 4c, waardenburg syndrome, type ivc]","Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by {5:Read and Newton, 1997}). WS type 4C is caused by mutation in the SOX10 gene ({602229}). WS type 4 is genetically heterogeneous (see WS4A; {277580}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS2 ({193510}), and WS3 ({148820}).",[613266],[897],[Waardenburg-Shah syndrome],[5524],,,,, +GARD:15643,Active,Orphanet+OMIM,OMIM:613286,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1ff",,,[613286],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15644,Active,Orphanet+OMIM,OMIM:613308,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 9,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {3:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[613308],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15645,Active,Orphanet+OMIM,OMIM:613309,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 10,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[613309],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15646,Active,Orphanet+OMIM,OMIM:613310,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 5,,"Familial exudative vitreoretinopathy is an inherited blinding disorder caused by defects in the development of retinal vasculature. There is extensive variation in disease severity among patients, even between members of the same family. Severely affected individuals often are registered as blind during infancy and can present with a phenotype resembling retinal dysplasia. Conversely, mildly affected individuals frequently have few or no visual problems and may have just a small area of avascularity in their peripheral retina, detectable only by fluorescein angiography (summary by {4:Poulter et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial exudative vitreoretinopathy (FEVR), see EVR1 ({133780}).",[613310],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:15647,Active,Orphanet+OMIM,OMIM:613313,Subtype of disorder,[Disease subtype],"Hemochromatosis, type 2b",,"Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by {5:Roetto et al., 1999}). HFE2B is caused by mutation in the HAMP gene ({606464}). HFE2 is genetically heterogeneous (see HFE2A, {602390}).",[613313],[79230],[Hemochromatosis type 2],[10092],,,,, +GARD:15648,Active,Orphanet+OMIM,OMIM:613318,Subtype of disorder,[Disease subtype],Miyoshi muscular dystrophy 2,,"For a general phenotypic description and a discussion of genetic heterogeneity of Miyoshi muscular dystrophy, see MMD1 ({254130}).",[613318],[45448],[Miyoshi myopathy],[9676],,,,, +GARD:15649,Active,Orphanet+OMIM,OMIM:613345,Subtype of disorder,[Disease subtype],"Hypokalemic periodic paralysis, type 2",,,[613345],[681],[Hypokalemic periodic paralysis],[6729],,,,, +GARD:1565,Legacy,GARD,,,,,,,,,,,,Cranioacrofacial syndrome,TRUE,FALSE,Retired +GARD:15650,Active,Orphanet+OMIM,OMIM:613347,Subtype of disorder,[Disease subtype],"Pancreatic cancer, susceptibility to, 2",[Pnca2],,[613347],[1333],[Familial pancreatic carcinoma],[4206],,,,, +GARD:15651,Active,Orphanet+OMIM,OMIM:613348,Subtype of disorder,[Disease subtype],"Pancreatic cancer, susceptibility to, 3",[Pnca3],,[613348],[1333],[Familial pancreatic carcinoma],[4206],,,,, +GARD:15652,Active,Orphanet+OMIM,OMIM:613370,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 10",,,[613370],[552],[MODY],[3697],,,,, +GARD:15653,Active,Orphanet+OMIM,OMIM:613375,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 11",,,[613375],[552],[MODY],[3697],,,,, +GARD:15654,Active,Orphanet+OMIM,OMIM:613382,Subtype of disorder,[Malformation syndrome subtype],"Brachydactyly, type e2",,,[613382],[93387],[Brachydactyly type E],[987],,,,, +GARD:15655,Active,Orphanet+OMIM,OMIM:613388,Subtype of disorder,[Disease subtype],Fanconi renotubular syndrome 2,,,[613388],[3337],[Primary Fanconi renotubular syndrome],[9118],,,,, +GARD:15656,Active,Orphanet+OMIM,OMIM:613390,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group o",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[613390],[84],[Fanconi anemia],[6425],,,,, +GARD:15657,Active,Orphanet+OMIM,OMIM:613399,Subtype of disorder,[Disease subtype],"Breast-ovarian cancer, familial, susceptibility to, 3",,,[613399],[145],[Hereditary breast and ovarian cancer syndrome],[15010],,,,, +GARD:15658,Active,Orphanet+OMIM,OMIM:613404,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, renal dysfunction, and cholestasis 2",,,[613404],[2697],[Arthrogryposis-renal dysfunction-cholestasis syndrome],[794],,,,, +GARD:15659,Active,Orphanet+OMIM,OMIM:613407,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 6",,See {609888} for a discussion of leprosy susceptibility in general and information on genetic heterogeneity.,[613407],[548],[Leprosy],[6886],,,,, +GARD:15660,Active,Orphanet+OMIM,OMIM:613411,Subtype of disorder,[Malformation syndrome subtype],Oguchi disease 2,"[Night blindness, congenital stationary, oguchi type 2]","Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by {3:Fuchs et al., 1995}).\n\nFor a general description and a discussion of genetic heterogeneity of Oguchi disease, see CSNBO1 ({258100}).",[613411],[75382],[Oguchi disease],[10118],,,,, +GARD:15661,Active,Orphanet+OMIM,OMIM:613424,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1r",,,[613424],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15662,Active,Orphanet+OMIM,OMIM:613428,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 54,,,[613428],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15663,Active,Orphanet+OMIM,OMIM:613435,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia,,"Amyotrophic lateral sclerosis-12 with or without frontotemporal dementia (ALS12) is a neurodegenerative disorder characterized by onset of ALS in adulthood. Rare patients may also develop frontotemporal dementia (FTD). Autosomal dominant and autosomal recessive inheritance patterns have been reported; there is also sporadic occurrence (summary by {3:Maruyama et al., 2010} and {1:Feng et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400}).",[613435],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15664,Active,Orphanet+OMIM,OMIM:613454,Subtype of disorder,[Disease subtype],"Rett syndrome, congenital variant",,"The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; {312750}), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene ({300005}).",[613454],[3095],[Atypical Rett syndrome],[4694],,,,, +GARD:15665,Active,Orphanet+OMIM,OMIM:613464,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 51,,,[613464],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15666,Active,Orphanet+OMIM,OMIM:613485,Subtype of disorder,[Disease subtype],Long qt syndrome 13,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({1:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[613485],[101016],[Romano-Ward syndrome],[3284],,,,, +GARD:15667,Active,Orphanet+OMIM,OMIM:613488,Subtype of disorder,[Histopathological subtype],Myxoid liposarcoma,,"Myxoid liposarcoma is a soft tissue tumor that tends to occur in the limbs (especially the thigh) of patients ranging in age from 35 to 55 years. It is defined by the presence of a hypocellular spindle cell proliferation set in a myxoid background, often with mucin pooling. Lipoblasts tend to be small and often monovacuolated and to cluster around vessels or at the periphery of the lesion (review by {4:Dei Tos, 2000}).",[613488],[99967],[Myxoid/round cell liposarcoma],[7157],,,,, +GARD:15668,Active,Orphanet+OMIM,OMIM:613493,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 3",[Antibody deficiency due to cd19 defect],,[613493],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15669,Active,Orphanet+OMIM,OMIM:613494,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 4",[Antibody deficiency due to baffr defect],,[613494],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:1567,Active,Orphanet,ORPHA:1513,Disorder,[Malformation syndrome],Craniodiaphyseal dysplasia,,"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.","[122860, 218300]",,,,,Craniodiaphyseal dysplasia,TRUE,FALSE,Active +GARD:15670,Active,Orphanet+OMIM,OMIM:613495,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 5",[Antibody deficiency due to cd20 defect],,[613495],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15671,Active,Orphanet+OMIM,OMIM:613496,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 6",[Antibody deficiency due to cd81 defect],,[613496],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15672,Active,Orphanet+OMIM,OMIM:613500,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 2, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to igll1 defect]",,[613500],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15673,Active,Orphanet+OMIM,OMIM:613501,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 3, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to cd79a defect]",,[613501],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15674,Active,Orphanet+OMIM,OMIM:613502,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 4, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to blnk defect]",,[613502],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15675,Active,Orphanet+OMIM,OMIM:613506,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 5, autosomal dominant","[Agammaglobulinemia, autosomal dominant, due to lrrc8a defect]",,[613506],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15676,Active,Orphanet+OMIM,OMIM:613561,Subtype of disorder,[Disease subtype],"Myopathy, lactic acidosis, and sideroblastic anemia 2",,"Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by {3:Riley et al., 2013}).\n\nFor a discussion of genetic heterogeneity of MLASA, see MLASA1 ({600462}).",[613561],[2598],[Mitochondrial myopathy and sideroblastic anemia],[3885],,,,, +GARD:15677,Active,Orphanet+OMIM,OMIM:613575,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 55,,,[613575],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15678,Active,Orphanet+OMIM,OMIM:613581,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 56,,"Retinitis pigmentosa-56 (RP56) is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity ({1:Bandah-Rozenfeld et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[613581],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15679,Active,Orphanet+OMIM,OMIM:613582,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 57,,,[613582],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:1568,Legacy,GARD,,,,,,,,,,,,Craniodigital syndrome mental retardation,TRUE,FALSE,Retired +GARD:15680,Active,Orphanet+OMIM,OMIM:613610,Subtype of disorder,[Malformation syndrome subtype],Cranioectodermal dysplasia 2,,"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by {1:Arts et al., 2011}).\n\nFor a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 ({218330}).",[613610],[1515],[Cranioectodermal dysplasia],[359],,,,, +GARD:15681,Active,Orphanet+OMIM,OMIM:613615,Subtype of disorder,[Disease subtype],Senior-loken syndrome 7,,,[613615],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15682,Active,Orphanet+OMIM,OMIM:613617,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 58,,,[613617],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15683,Active,Orphanet+OMIM,OMIM:613640,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory and autonomic, type ic","[Hsan ic, hsn ic, neuropathy, hereditary sensory, type ic]","Hereditary sensory and autonomic neuropathy type IC (HSAN1C) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2 and/or pyramidal signs. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic. (summary by {7:Rotthier et al., 2010}, {4:Gantner et al., 2019}, and {9:Triplett et al., 2019}). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits ({3:Fridman et al., 2019}).\n\nFor a discussion of genetic heterogeneity of HSAN, see HSAN1A ({162400}).",[613640],[36386],[Hereditary sensory and autonomic neuropathy type 1],[6635],,,,, +GARD:15684,Active,Orphanet+OMIM,OMIM:613642,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1gg",,,[613642],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15685,Active,Orphanet+OMIM,OMIM:613657,Subtype of disorder,[Disease subtype],D-2-hydroxyglutaric aciduria 2,,,[613657],[79315],[D-2-hydroxyglutaric aciduria],[5661],,,,, +GARD:15686,Active,Orphanet+OMIM,OMIM:613660,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 15,,,[613660],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15687,Active,Orphanet+OMIM,OMIM:613676,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 4,,"Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features ({2:Faivre et al., 2002}).\n\nFor a general description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.",[613676],[808],[Seckel syndrome],[8562],,,,, +GARD:15688,Active,Orphanet+OMIM,OMIM:613681,Subtype of disorder,[Malformation syndrome subtype],Chromosome 2q31.1 duplication syndrome,,,[613681],[1836],"[Mesomelic dysplasia, Kantaputra type]",[3074],,,,, +GARD:15689,Active,Orphanet+OMIM,OMIM:613694,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1u",,,[613694],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15690,Active,Orphanet+OMIM,OMIM:613697,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1v",,,[613697],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15691,Active,Orphanet+OMIM,OMIM:613702,Subtype of disorder,[Malformation syndrome subtype],"Klippel-feil syndrome 3, autosomal dominant",,"Klippel-Feil syndrome is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ({1:Tracy et al., 2004}).\n\nFor a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 ({118100}).",[613702],[2345],[Isolated Klippel-Feil syndrome],[10280],,,,, +GARD:15692,Active,Orphanet+OMIM,OMIM:613703,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 6",,,[613703],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15693,Active,Orphanet+OMIM,OMIM:613706,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 7,,"Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by {1:Sarkozy et al., 2009}).",[613706],[648],[Noonan syndrome],[10955],,,,, +GARD:15694,Active,Orphanet+OMIM,OMIM:613707,Subtype of disorder,[Malformation syndrome subtype],Leopard syndrome 3,,,[613707],[500],[Noonan syndrome with multiple lentigines],[1100],,,,, +GARD:15695,Active,Orphanet+OMIM,OMIM:613708,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory, type id",,"Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by {1:Guelly et al., 2011}).\n\nFor a discussion of genetic heterogeneity of HSAN, see HSAN1A ({162400}).\n\nSpastic paraplegia-3A (SPG3A; {182600}) is an allelic disorder with a different phenotype.",[613708],[36386],[Hereditary sensory and autonomic neuropathy type 1],[6635],,,,, +GARD:15696,Active,Orphanet+OMIM,OMIM:613711,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 3",,"The disorder described by {5:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\n{6:Hofstra et al. (1997)} discussed the possible role of GDNF in the pathogenesis of Hirschsprung disease.\n\nFor a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see {142623}.",[613711],[388],[Hirschsprung disease],[6660],,,,, +GARD:15697,Active,Orphanet+OMIM,OMIM:613712,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 4",,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see {142623}.",[613712],[388],[Hirschsprung disease],[6660],,,,, +GARD:15698,Active,Orphanet+OMIM,OMIM:613717,Subtype of disorder,[Malformation syndrome subtype],Treacher collins syndrome 2,,"Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss ({1:Dauwerse et al., 2011}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 ({154500}).",[613717],[861],[Treacher-Collins syndrome],[9124],,,,, +GARD:15699,Active,Orphanet+OMIM,OMIM:613721,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 11,"[Epileptic encephalopathy, early infantile, 11]","Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. Some patients may have later onset. Seizures comprise multiple types, including tonic, generalized, and myoclonic, and tend to be refractory to medication. However, some patients with onset of seizures before 3 months of age may respond to sodium channel blockers, particularly phenytoin. About half of patients become seizure-free in childhood. Affected individuals have global developmental delay, usually with severely impaired intellectual development, although some may be less severely affected and show autism spectrum disorder. Additional common features include microcephaly, hypotonia, and abnormal movements, such as dystonia, dyskinesias, and choreoathetotic movements. Brain imaging may show white matter defects. The phenotype is highly variable, even in patients with the same mutation (summary by {6:Ogiwara et al., 2009}; {4:Howell et al., 2015}; {10:Wolff et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[613721],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:157,Active,Orphanet,ORPHA:2155,Disorder,[Malformation syndrome],Hirschsprung disease-deafness-polydactyly syndrome,"[Hirschsprung disease-hearing loss-polydactyly syndrome, Santos-Mateus-Leal syndrome]","Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.",[235740],,,,,Santos Mateus Leal syndrome,TRUE,FALSE,Active +GARD:1570,Legacy,GARD,,,,,,,,,,,,Craniofacial and skeletal defects,TRUE,FALSE,Active +GARD:15700,Active,Orphanet+OMIM,OMIM:613750,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 27,,,[613750],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15701,Active,Orphanet+OMIM,OMIM:613756,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 49,,,[613756],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15702,Active,Orphanet+OMIM,OMIM:613758,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 47,,,[613758],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15703,Active,Orphanet+OMIM,OMIM:613762,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 6","[46,xy sex reversal, partial or complete, map3k1-related, 46,xy gonadal dysgenesis, partial or complete, map3k1-related]",,[613762],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,,,, +GARD:15704,Active,Orphanet+OMIM,OMIM:613767,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 45,,,[613767],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15705,Active,Orphanet+OMIM,OMIM:613769,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 44,,,[613769],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15706,Active,Orphanet+OMIM,OMIM:613780,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 7","[Aortic dissection, familial, with or without aortic aneurysm]",,[613780],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:15707,Active,Orphanet+OMIM,OMIM:613783,Subtype of disorder,[Disease subtype],Complement component c1s deficiency,[C1s deficiency],,[613783],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,,,, +GARD:15708,Active,Orphanet+OMIM,OMIM:613800,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 2,,,[613800],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15709,Active,Orphanet+OMIM,OMIM:613801,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 40,,,[613801],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:1571,Active,Orphanet,ORPHA:1529,Disorder,[Malformation syndrome],Craniofacial-deafness-hand syndrome,"[CDHS, Craniofacial-hearing loss-hand syndrome, Sommer-Young-Wee-Frye syndrome]","A rare autosomal dominant, multiple congenital anomalies syndrome characterized by facial dysmorphism (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, and small, pursed mouth), profound sensorineural deafness, ulnar deviations and contractures of the hand. This disorder is allelic to Waardenburg syndrome, and distinguished by the imaging findings and distinct facial features.",[122880],,,,,Craniofacial deafness hand syndrome,TRUE,FALSE,Active +GARD:15710,Active,Orphanet+OMIM,OMIM:613803,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 3,,,[613803],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15711,Active,Orphanet+OMIM,OMIM:613804,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 4,,,[613804],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15712,Active,Orphanet+OMIM,OMIM:613805,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 5,,,[613805],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15713,Active,Orphanet+OMIM,OMIM:613807,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 14","[Ciliary dyskinesia, primary, 14, with or without situs inversus]","Primary ciliary dyskinesia-14 (CILD14) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization ({3:Merveille et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[613807],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15714,Active,Orphanet+OMIM,OMIM:613808,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 15","[Ciliary dyskinesia, primary, 15, with or without situs inversus]","Primary ciliary dyskinesia-15 (CILD15) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (summary by {2:Becker-Heck et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[613808],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15715,Active,Orphanet+OMIM,OMIM:613809,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 39,,,[613809],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15716,Active,Orphanet+OMIM,OMIM:613810,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 43,,,[613810],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15717,Active,Orphanet+OMIM,OMIM:613811,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2d","[Cerebellocerebral atrophy, progressive]","PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by {2:Ben-Zeev et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A ({277470}).",[613811],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:15718,Active,Orphanet+OMIM,OMIM:613819,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 4 with or without polydactyly,[Asphyxiating thoracic dystrophy 4],"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {2:Huber and Cormier-Daire, 2012} and {4:Schmidts et al., 2013}). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[613819],[474],[Jeune syndrome],[3049],,,,, +GARD:15719,Active,Orphanet+OMIM,OMIM:613823,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 5,,"Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by {1:Kalay et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.",[613823],[808],[Seckel syndrome],[8562],,,,, +GARD:15720,Active,Orphanet+OMIM,OMIM:613827,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 48,,,[613827],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15721,Active,Orphanet+OMIM,OMIM:613830,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1d","[Csnb, complete, autosomal recessive]","CSNB1D is an autosomal recessive form of congenital stationary night blindness that is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients with Riggs-type CSNB have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by {2:Riazuddin et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A ({310500}).",[613830],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15722,Active,Orphanet+OMIM,OMIM:613849,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xii","[Oi, type xii]","Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by {2:Lapunzina et al., 2010}).",[613849],[216820],[Osteogenesis imperfecta type 4],[8696],,,,, +GARD:15723,Active,Orphanet+OMIM,OMIM:613856,Subtype of disorder,[Disease subtype],Achromatopsia 4,,"Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus ({2:Kohl et al., 2002}).\n\nFor a general description and a discussion of genetic heterogeneity of achromatopsia, see {216900}.",[613856],[49382],[Achromatopsia],[15015],,,,, +GARD:15724,Active,Orphanet+OMIM,OMIM:613861,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 59,,,[613861],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15725,Active,Orphanet+OMIM,OMIM:613862,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 38,"[Rod-cone dystrophy, childhood-onset]","Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by {4:Mackay et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[613862],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15726,Active,Orphanet+OMIM,OMIM:613881,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1hh",,,[613881],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15727,Active,Orphanet+OMIM,OMIM:613885,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 8",,"Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by {1:Shaheen et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 ({249000}).",[613885],[564],[Meckel syndrome],[3436],,,,, +GARD:15728,Active,Orphanet+OMIM,OMIM:613925,Subtype of disorder,[Disease subtype],Megalencephalic leukoencephalopathy with subcortical cysts 2a,,"Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by {1:Lopez-Hernandez et al., 2011}).\n\nHeterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B; {613926}).",[613925],[2478],[Megalencephalic leukoencephalopathy with subcortical cysts],[3445],,,,, +GARD:15729,Active,Orphanet+OMIM,OMIM:613926,Subtype of disorder,[Disease subtype],"Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation",,"Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by {2:van der Knaap et al., 2010} and {1:Lopez-Hernandez et al., 2011}).\n\nHomozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A; {613925}).\n\nFor a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 ({604004}).",[613926],"[210548, 2478]","[Macrocephaly-intellectual disability-autism syndrome, Megalencephalic leukoencephalopathy with subcortical cysts]","[3445, 17112]",,,,, +GARD:1573,Legacy,GARD,,,,,,,,,,,,Craniofacial dysostosis arthrogryposis progeroid appearence,TRUE,FALSE,Active +GARD:15730,Active,Orphanet+OMIM,OMIM:613930,Subtype of disorder,[Disease subtype],Alopecia-intellectual disability syndrome 3,,"For a discussion of genetic heterogeneity of alopecia-intellectual disability syndrome, see APMR1 ({203650}).",[613930],[2850],[Alopecia-intellectual disability syndrome],[612],,,,, +GARD:15731,Active,Orphanet+OMIM,OMIM:613951,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group p",,"Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by {2:Kim et al., 2011}).\n\nFor a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.",[613951],[84],[Fanconi anemia],[6425],,,,, +GARD:15732,Active,Orphanet+OMIM,OMIM:613953,Subtype of disorder,[Disease subtype],Immunodeficiency 51,"[Candidiasis, familial, 5, formerly]","Immunodeficiency-51 (IMD51) is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A ({603149}), IL17F ({606496}), IL17A/F, and IL17E (IL25; {605658}) (summary by {2:Levy et al., 2016}).",[613953],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15733,Active,Orphanet+OMIM,OMIM:613954,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,"[Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, formerly]","Frontotemporal dementia and/or amyotrophic lateral sclerosis-6 (FTDALS6) is an autosomal dominant neurodegenerative disorder with highly variable manifestations. Some patients present in adulthood with progressive FTD, often classified as the 'behavioral variant,' which is characterized by reduced empathy, impulsive behavior, personality changes, and reduced verbal output. Other patients present with features of amyotrophic lateral sclerosis (ALS), which is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of this disease include pallor of the corticospinal tract due to loss of motor neurons (in ALS). In both ALS and FTD, there are ubiquitin-positive inclusions within surviving neurons as well as deposition of pathologic TDP43 (TARDBP; {605078}) or p62 (SQSTM1; {601530}) aggregates. Patients with a D395G mutation ({601023.0014}) have been shown to develop pathologic tau (MAPT; {157140}) aggregates. Some patients with the disorder may have features of both diseases, and there is significant interfamilial and intrafamilial phenotypic variability (summary by {4:Johnson et al., 2010}; {7:Wong et al., 2018}; {2:Al-Obeidi et al., 2018}; {3:Darwich et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[613954],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,,,, +GARD:15734,Active,Orphanet+OMIM,OMIM:613957,Subtype of disorder,[Disease subtype],Spermatogenic failure 8,,,[613957],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15735,Active,Orphanet+OMIM,OMIM:613958,Subtype of disorder,[Clinical subtype],Spermatogenic failure 9,"[globozoospermia, total, Globozoospermia, complete]","Spermatogenic failure-9 (SPGF9) is associated with globozoospermia, a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without an acrosome (summary by {3:Harbuz et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[613958],[171709],[Male infertility due to globozoospermia],[12502],,,,, +GARD:15736,Active,Orphanet+OMIM,OMIM:613960,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 3","[cgd, autosomal recessive cytochrome b-positive, type iii, granulomatous disease, chronic, due to ncf4 deficiency, Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii]","Autosomal recessive chronic granulomatous disease-3 (CGD3) is an immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation with onset usually in the first decade of life. Most patients present with colitis and features of inflammatory bowel disease. Other common manifestations include lupus-like skin lesions, skin granulomas, Staphylococcal abscesses, oral ulcers, and periodontitis. Patients usually do not have invasive infections and are not markedly susceptible to fungal infections. The disorder results from variable loss of phagocyte superoxide production due to NADPH oxidase dysfunction; it is generally less severe than other genetic types of CGD (summary by {2:Matute et al., 2009}; {4:van de Geer et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; {306400}).",[613960],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15737,Active,Orphanet+OMIM,OMIM:613980,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 9",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[613980],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15738,Active,Orphanet+OMIM,OMIM:613983,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 60,,,[613983],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15739,Active,Orphanet+OMIM,OMIM:613987,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 2",,"Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by {1:Vulliamy et al., 2008}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[613987],[1775],[Dyskeratosis congenita],[10905],,,,, +GARD:15740,Active,Orphanet+OMIM,OMIM:613988,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 3",,"Dyskeratosis congenita is a genetic disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition caused by short telomeres resulting from a defect in telomerase. Clinical manifestations may be seen in the skin as leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues (summary by {2:Zhong et al., 2011}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[613988],[1775],[Dyskeratosis congenita],[10905],,,,, +GARD:15741,Active,Orphanet+OMIM,OMIM:613989,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal dominant 2",,"Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by {1:Armanios et al., 2005}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[613989],"[1775, 3322]","[Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome]","[10905, 346]",,,,, +GARD:15742,Active,Orphanet+OMIM,OMIM:613990,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal dominant 3",,"Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by {3:Savage et al., 2008}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 ({127550}).",[613990],"[1775, 3322]","[Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome]","[10905, 346]",,,,, +GARD:15743,Active,Orphanet+OMIM,OMIM:614017,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 16","[Ciliary dyskinesia, primary, 16, with or without situs inversus]","Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms ({1:Mazor et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[614017],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15744,Active,Orphanet+OMIM,OMIM:614021,Subtype of disorder,[Disease subtype],"Ventricular tachycardia, catecholaminergic polymorphic, 3",,"Catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is characterized by overlapping features of long QT syndrome (see {192500}) and CPVT. Affected individuals exhibit adrenergic ventricular tachycardia associated with a high prevalence of cardiac arrest and sudden cardiac death, with recurrent atrial tachycardia sometimes triggering the ventricular arrhythmias. In addition, affected individuals have a normal or mildly prolonged QTc on baseline electrocardiography, with a paradoxical QT increase during adrenergic simulation (summary by {2:Devalla et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see {604772}.",[614021],[3286],[Catecholaminergic polymorphic ventricular tachycardia],[4421],,,,, +GARD:15745,Active,Orphanet+OMIM,OMIM:614022,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 10",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[614022],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15746,Active,Orphanet+OMIM,OMIM:614042,Subtype of disorder,[Disease subtype],Moyamoya disease 5,,"Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by {2:Roder et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350}).",[614042],[2573],[Moyamoya disease],[7064],,,,, +GARD:15747,Active,Orphanet+OMIM,OMIM:614049,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 11",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583}).",[614049],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15748,Active,Orphanet+OMIM,OMIM:614050,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 12",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583}).",[614050],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15749,Active,Orphanet+OMIM,OMIM:614066,Subtype of disorder,[Disease subtype],"Spastic paraplegia 47, autosomal recessive","[Cerebral palsy, spastic quadriplegic, 5, formerly]","Spastic paraplegia-47 (SPG47) is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by {2:Abou Jamra et al., 2011}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800}).",[614066],[280763],[Severe intellectual disability and progressive spastic paraplegia],[10999],,,,, +GARD:1575,Active,Orphanet,ORPHA:1516,Disorder,[Malformation syndrome],Non-syndromic bilambdoid and sagittal craniosynostosis,"[BLSS, Bilateral lambdoid and sagittal synostosis, Isolated sagittal and bilambdoid craniosynostosis, Non-syndromic sagittal and bilateral lambdoid synostosis]","A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.",[218350],,,,,Craniofacial dyssynostosis,TRUE,FALSE,Active +GARD:15750,Active,Orphanet+OMIM,OMIM:614067,Subtype of disorder,[Disease subtype],"Spastic paraplegia 52, autosomal recessive","[Cerebral palsy, spastic quadriplegic, 6, formerly]","Spastic quadriplegia-52 (SPG52) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by {1:Abou Jamra et al., 2011}). Some patients may have seizures ({2:Hardies et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800}).",[614067],[280763],[Severe intellectual disability and progressive spastic paraplegia],[10999],,,,, +GARD:15751,Active,Orphanet+OMIM,OMIM:614069,Subtype of disorder,[Malformation syndrome subtype],Immunodeficiency-centromeric instability-facial anomalies syndrome 2,,"Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by {2:de Greef et al., 2011}).\n\nFor a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 ({242860}).",[614069],[2268],[ICF syndrome],[2945],,,,, +GARD:15752,Active,Orphanet+OMIM,OMIM:614079,Subtype of disorder,[Disease subtype],"Aspergillosis, susceptibility to",,"Aspergillus species are ubiquitous in nature and cause a wide spectrum of diseases, including saprophytic colonization of existing cavities (aspergilloma), allergic asthma, hypersensitivity pneumonitis, allergic bronchopulmonary aspergillosis, and disseminated disease associated with high mortality rates in patients with hematologic malignancies and recipients of solid organs and stem cell transplantations. Immunocompetent and nonatopic individuals are relatively resistant to infection, and disease occurs in the setting of host damage. Association of persistent inflammation with intractable infection is common in nonneutropenic patients after hematopoietic stem cell transplantation, as well as in allergic fungal diseases. The pathophysiology underlying Aspergillus infection highlights the bipolar nature of the inflammatory process in infection, in which early inflammation prevents or limits infection, but an uncontrolled response may oppose disease eradication (summary by {6:Cunha et al., 2010}).\n\nFor information on familial occurrence of allergic bronchopulmonary aspergillosis, see {103920}.",[614079],[1163],[Aspergillosis],[5856],,,,, +GARD:15753,Active,Orphanet+OMIM,OMIM:614082,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group g",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[614082],[84],[Fanconi anemia],[6425],,,,, +GARD:15754,Active,Orphanet+OMIM,OMIM:614083,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group l",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[614083],[84],[Fanconi anemia],[6425],,,,, +GARD:15755,Active,Orphanet+OMIM,OMIM:614089,Subtype of disorder,[Clinical subtype],Atrial septal defect 3,,,[614089],[99103],"[Atrial septal defect, ostium secundum type]",[5865],,,,, +GARD:15756,Active,Orphanet+OMIM,OMIM:614091,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 7 with or without polydactyly,"[Short rib-polydactyly syndrome, type v]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {3:Huber and Cormier-Daire, 2012} and {6:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[614091],[93271],"[Short rib-polydactyly syndrome, Verma-Naumoff type]",[4835],,,,, +GARD:15757,Active,Orphanet+OMIM,OMIM:614099,Subtype of disorder,[Malformation syndrome subtype],Cranioectodermal dysplasia 3,,"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by {1:Arts et al., 2011}).\n\nFor discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 ({218330}).",[614099],[1515],[Cranioectodermal dysplasia],[359],,,,, +GARD:15758,Active,Orphanet+OMIM,OMIM:614114,Subtype of disorder,[Malformation syndrome subtype],Mosaic variegated aneuploidy syndrome 2,,"Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from defects in cell division (summary by {4:Snape et al., 2011}).\n\nSee also MVA1 ({257300}), caused by mutation in the BUB1B gene ({602860}) on chromosome 15q15.",[614114],[1052],[Mosaic variegated aneuploidy syndrome],[3007],,,,, +GARD:15759,Active,Orphanet+OMIM,OMIM:614120,Subtype of disorder,[Malformation syndrome subtype],Hydrolethalus syndrome 2,,"Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by {1:Putoux et al., 2011}).\n\nAcrocallosal syndrome (ACLS; {200990}) is an allelic disorder with a less severe phenotype.\n\nFor a discussion of genetic heterogeneity of hydrolethalus syndrome, see {236680}.",[614120],[2189],[Hydrolethalus],[6683],,,,, +GARD:15760,Active,Orphanet+OMIM,OMIM:614129,Subtype of disorder,[Disease subtype],Perrault syndrome 3,"[Deafness, autosomal recessive 81, formerly]","Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by {4:Jenkinson et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 ({233400}).",[614129],[2855],[Perrault syndrome],[2542],,,,, +GARD:15761,Active,Orphanet+OMIM,OMIM:614131,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 6,"[Glomerulosclerosis, focal segmental, 6]","Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by {2:Mele et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[614131],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15762,Active,Orphanet+OMIM,OMIM:614149,Subtype of disorder,[Clinical subtype],"Nail disorder, nonsyndromic congenital, 9",,"Although nails appear normal at birth, dystrophic changes develop within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails (summary by {1:Rafiq et al., 2004}). This disorder is referred to here as nonsyndromic congenital nail disorder-9 (NDNC9).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050}).",[614149],[90390],[Anonychia-onychodystrophy syndrome],[710],,,,, +GARD:15763,Active,Orphanet+OMIM,OMIM:614165,Subtype of disorder,[Disease subtype],Paragangliomas 5,,,[614165],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,,,, +GARD:15764,Active,Orphanet+OMIM,OMIM:614170,Subtype of disorder,[Disease subtype],Brittle cornea syndrome 2,,"Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints ({1:Al-Hussain et al., 2004}). It is classified as a form of Ehlers-Danlos syndrome ({5:Malfait et al., 2017}).\n\nFor a discussion of genetic heterogeneity of brittle cornea syndrome, see BCS1 ({229200}).",[614170],[90354],[Brittle cornea syndrome],[1019],,,,, +GARD:15765,Active,Orphanet+OMIM,OMIM:614173,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 13,,,[614173],[475],[Joubert syndrome],[6802],,,,, +GARD:15766,Active,Orphanet+OMIM,OMIM:614180,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 61,,,[614180],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15767,Active,Orphanet+OMIM,OMIM:614181,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 62,,,[614181],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15768,Active,Orphanet+OMIM,OMIM:614185,Subtype of disorder,[Malformation syndrome subtype],Geleophysic dysplasia 2,,,[614185],[2623],[Geleophysic dysplasia],[2449],,,,, +GARD:15769,Active,Orphanet+OMIM,OMIM:614190,Subtype of disorder,[Disease subtype],"Pigmented nodular adrenocortical disease, primary, 3","[Cushing syndrome, adrenal, due to ppnad3]",,[614190],[189439],[Primary pigmented nodular adrenocortical disease],[10906],,,,, +GARD:15770,Active,Orphanet+OMIM,OMIM:614196,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 6",,"The nephrotic syndrome refers to a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema, resulting in end-stage kidney disease if untreated. Inherited defects in podocyte structure and function have been observed in some children with the steroid-resistant subtype of nephrotic syndrome (summary by {1:Ozaltin et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[614196],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15771,Active,Orphanet+OMIM,OMIM:614198,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 16","[Myasthenic syndrome, congenital, acetazolamide-responsive]","Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by {1:Arnold et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[614198],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15772,Active,Orphanet+OMIM,OMIM:614205,Subtype of disorder,[Malformation syndrome subtype],Three m syndrome 3,[3m syndrome 3],"3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by {2:Hanson et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 ({273750}).",[614205],[2616],[3M syndrome],[5667],,,,, +GARD:15773,Active,Orphanet+OMIM,OMIM:614209,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 9",,"Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by {1:Hopp et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 ({249000}).",[614209],[564],[Meckel syndrome],[3436],,,,, +GARD:15774,Active,Orphanet+OMIM,OMIM:614213,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory, type iic",,"HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by {1:Riviere et al., 2011}).\n\nFor a discussion of genetic heterogeneity of HSN, see HSAN1 ({162400}).",[614213],[970],[Hereditary sensory and autonomic neuropathy type 2],[3976],,,,, +GARD:15775,Active,Orphanet+OMIM,OMIM:614219,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 2,,"Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by {10:Shaheen et al., 2011}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[614219],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:15776,Active,Orphanet+OMIM,OMIM:614220,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 4",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {3:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720}).",[614220],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15777,Active,Orphanet+OMIM,OMIM:614221,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 5",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {3:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720}).",[614221],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15778,Active,Orphanet+OMIM,OMIM:614222,Subtype of disorder,[Malformation syndrome subtype],Warburg micro syndrome 3,[Micro syndrome 3],"Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by {5:Morris-Rosendahl et al., 2010}).\n\nFor a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.",[614222],[2510],[Micro syndrome],[5534],,,,, +GARD:15779,Active,Orphanet+OMIM,OMIM:614223,Subtype of disorder,[Disease subtype],"Narcolepsy 6, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[614223],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:1578,Active,Orphanet,ORPHA:1520,Disorder,[Malformation syndrome],Craniofrontonasal dysplasia,"[CFND, CFNS, Craniofrontonasal syndrome]","A rare X-linked malformation syndrome characterized by craniofacial abnormalities, grooved nails, intellectual disability and various skeletal and soft tissue abnormalities.",[304110],,,,,Craniofrontonasal dysplasia,TRUE,FALSE,Active +GARD:15780,Active,Orphanet+OMIM,OMIM:614225,Subtype of disorder,[Malformation syndrome subtype],Warburg micro syndrome 2,[Micro syndrome 2],,[614225],[2510],[Micro syndrome],[5534],,,,, +GARD:15781,Active,Orphanet+OMIM,OMIM:614237,Subtype of disorder,[Disease subtype],Hypotrichosis 9,,"For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.",[614237],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:15782,Active,Orphanet+OMIM,OMIM:614238,Subtype of disorder,[Disease subtype],Hypotrichosis 10,,"For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.",[614238],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:15783,Active,Orphanet+OMIM,OMIM:614250,Subtype of disorder,[Disease subtype],Narcolepsy 7,,,[614250],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15784,Active,Orphanet+OMIM,OMIM:614280,Subtype of disorder,[Disease subtype],"Epilepsy, juvenile myoclonic, susceptibility to, 9",,"For general phenotypic information and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}.",[614280],[307],[Juvenile myoclonic epilepsy],[6808],,,,, +GARD:15785,Active,Orphanet+OMIM,OMIM:614291,Subtype of disorder,[Disease subtype],"Breast-ovarian cancer, familial, susceptibility to, 4",,,[614291],[145],[Hereditary breast and ovarian cancer syndrome],[15010],,,,, +GARD:15786,Active,Orphanet+OMIM,OMIM:614305,Subtype of disorder,[Malformation syndrome subtype],Sclerosteosis 2,,"Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by {1:Brunkow et al., 2001}).\n\nFor a discussion of genetic heterogeneity of sclerosteosis, see SOST1 ({269500}).",[614305],[3152],[Sclerosteosis],[4771],,,,, +GARD:15787,Active,Orphanet+OMIM,OMIM:614307,Subtype of disorder,[Disease subtype],Alpha-methylacyl-coa racemase deficiency,[Amacr deficiency],"AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by {5:Smith et al., 2010}).",[614307],[79095],[Congenital bile acid synthesis defect type 4],[10046],,,,, +GARD:15788,Active,Orphanet+OMIM,OMIM:614320,Subtype of disorder,[Disease subtype],"Pancreatic cancer, susceptibility to, 4",,,[614320],[1333],[Familial pancreatic carcinoma],[4206],,,,, +GARD:15789,Active,Orphanet+OMIM,OMIM:614331,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 6","[Colon cancer, hereditary nonpolyposis, type 6]",,[614331],[144],[Lynch syndrome],[9905],,,,, +GARD:1579,Legacy,GARD,,,,,,,,,,,,Craniofrontonasal syndrome Teebi type,TRUE,FALSE,Active +GARD:15790,Active,Orphanet+OMIM,OMIM:614335,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, distal, type 1b",,,[614335],[1146],[Distal arthrogryposis type 1],[787],,,,, +GARD:15791,Active,Orphanet+OMIM,OMIM:614337,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 4",,,[614337],[144],[Lynch syndrome],[9905],,,,, +GARD:15792,Active,Orphanet+OMIM,OMIM:614350,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 5",,"Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by {2:Castellsague et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 ({120435}).",[614350],[144],[Lynch syndrome],[9905],,,,, +GARD:15793,Active,Orphanet+OMIM,OMIM:614370,Subtype of disorder,[Disease subtype],"Surfactant metabolism dysfunction, pulmonary, 5","[pap due to csf2rb deficiency, csf2rb deficiency, Pulmonary alveolar proteinosis 5]","Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis (PAP). PAP is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by {2:Greenhill and Kotton, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 ({265120}).",[614370],[264675],[Hereditary pulmonary alveolar proteinosis],[4582],,,,, +GARD:15794,Active,Orphanet+OMIM,OMIM:614373,Subtype of disorder,[Disease subtype],"Amyotrophic lateral sclerosis 16, juvenile",,,[614373],[300605],[Juvenile amyotrophic lateral sclerosis],[11901],,,,, +GARD:15795,Active,Orphanet+OMIM,OMIM:614376,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 5 with or without polydactyly,[Asphyxiating thoracic dystrophy 5],"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {3:Huber and Cormier-Daire, 2012} and {5:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[614376],[474],[Jeune syndrome],[3049],,,,, +GARD:15796,Active,Orphanet+OMIM,OMIM:614378,Subtype of disorder,[Malformation syndrome subtype],Cranioectodermal dysplasia 4,,"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by {1:Arts et al., 2011}).\n\nFor a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 ({218330}).",[614378],[1515],[Cranioectodermal dysplasia],[359],,,,, +GARD:15797,Active,Orphanet+OMIM,OMIM:614379,Subtype of disorder,[Disease subtype],Complement component 4b deficiency,[C4b deficiency],,[614379],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,,,, +GARD:15798,Active,Orphanet+OMIM,OMIM:614380,Subtype of disorder,[Disease subtype],Complement component 4a deficiency,[C4a deficiency],,[614380],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,,,, +GARD:15799,Active,Orphanet+OMIM,OMIM:614385,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 7",,,[614385],[144],[Lynch syndrome],[9905],,,,, +GARD:158,Active,Orphanet,ORPHA:3129,Disorder,[Disease],Sarcosinemia,[Sarcosine dehydrogenase complex deficiency],A rare inborn error of metabolism characterized by increased concentrations of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.,[268900],,,,,Sarcosinemia,TRUE,FALSE,Active +GARD:15800,Active,Orphanet+OMIM,OMIM:614422,Subtype of disorder,[Clinical subtype],Cataract 37,,,[614422],[98989],[Cerulean cataract],[9508],,,,, +GARD:15801,Active,Orphanet+OMIM,OMIM:614424,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 14,,"Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by {1:Boycott et al., 2007} and {3:Huang et al., 2011}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[614424],"[475, 2318, 220493, 220497]","[Joubert syndrome with renal defect, Joubert syndrome with oculorenal defect, Joubert syndrome, Joubert syndrome with ocular defect]","[10168, 10169, 6802, 9455]",,,,, +GARD:15802,Active,Orphanet+OMIM,OMIM:614434,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal dominant 2",,"Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by {1:Markova et al., 2003}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 ({123700}).",[614434],[90348],[Autosomal dominant cutis laxa],[1639],,,,, +GARD:15803,Active,Orphanet+OMIM,OMIM:614435,Subtype of disorder,[Morphological anomaly subtype],Hypoplastic left heart syndrome 2,,"Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged ({1:Brekke, 1953}).\n\nFor a discussion of genetic heterogeneity of hypoplastic left heart syndrome, see HLHS1 ({241550}).",[614435],[2248],[Hypoplastic left heart syndrome],[6739],,,,, +GARD:15804,Active,Orphanet+OMIM,OMIM:614437,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal recessive, type ib",,"Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by {4:Hoyer et al., 2009}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100}).",[614437],[90349],[Autosomal recessive cutis laxa type 1],[8480],,,,, +GARD:15805,Active,Orphanet+OMIM,OMIM:614441,Subtype of disorder,[Malformation syndrome subtype],"Hypertrophic osteoarthropathy, primary, autosomal recessive, 2","[Pachydermoperiostosis, autosomal recessive, pdp, autosomal recessive]","Autosomal recessive primary hypertrophic osteoarthropathy-2 (PHOAR2) is a rare disorder characterized by digital clubbing, pachydermia, and periostosis. Pain and swelling of ankles and knees, watery diarrhea, and excessive sweating are often present. Males are more frequently and severely affected (summary by {9:Zhang et al., 2013}, {6:Li et al., 2017}).\n\nFor a discussion of genetic heterogeneity of PHO, see PHOAR1 ({259100}).",[614441],[2796],[Pachydermoperiostosis],[7299],,,,, +GARD:15806,Active,Orphanet+OMIM,OMIM:614464,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 15,,"Joubert syndrome-15 is an autosomal recessive developmental disorder characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation. Other features, such as polydactyly, breathing abnormalities, and oculomotor apraxia, are variable (summary by {1:Lee et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[614464],"[475, 220493]","[Joubert syndrome, Joubert syndrome with ocular defect]","[10168, 6802]",,,,, +GARD:15807,Active,Orphanet+OMIM,OMIM:614465,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 16,,"Joubert syndrome-16 is an autosomal recessive developmental disorder characterized by the molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement. The phenotype is indistinguishable from that of JBTS2 ({608091}) (summary by {1:Lee et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[614465],[2318],[Joubert syndrome with oculorenal defect],[9455],,,,, +GARD:15808,Active,Orphanet+OMIM,OMIM:614483,Subtype of disorder,[Etiological subtype],Brain small vessel disease 2,"[Porencephaly 2, formerly]","Brain small vessel disease-2 is an autosomal dominant disorder characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration. The disorder is often associated with 'porencephaly' on brain imaging. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by {2:Yoneda et al., 2012}).\n\nFor a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 ({175780}).",[614483],[99810],[Familial porencephaly],[2258],,,,, +GARD:15809,Active,Orphanet+OMIM,OMIM:614493,Subtype of disorder,[Disease subtype],Wiskott-aldrich syndrome 2,"[Wipf1 deficiency, wip deficiency]","Wiskott-Aldrich syndrome-2 (WAS2) is an autosomal recessive immunologic disorder characterized by onset of recurrent infections in infancy. Other features include thrombocytopenia with normal platelet volume and eczema. Laboratory studies show decreased CD8+ T cells, variably increased Ig, particularly IgE, low B cells, aberrant function of T and NK cells, and impaired T-cell migration. The cellular abnormalities are thought to result from defective F-actin polymerization. Death in early childhood may occur; hematopoietic stem cell transplantation is curative (summary by {3:Lanzi et al., 2012}).\n\nFor a discussion of genetic heterogeneity of Wiskott-Aldrich syndrome, see WAS ({301000}).",[614493],[906],[Wiskott-Aldrich syndrome],[7895],,,,, +GARD:1581,Active,Orphanet+OMIM,OMIM:123000,Subtype of disorder,[Malformation syndrome subtype],"Craniometaphyseal dysplasia, autosomal dominant","[craniometaphyseal dysplasia, jackson type, Cmd]","Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, which may finally result in hearing loss and facial palsy (summary by {16:Nurnberg et al., 1997}).\n\nThe delineation of separate autosomal dominant and autosomal recessive (CMDR; {218400}) forms of CMD by {7:Gorlin et al. (1969)} was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.",[123000],[1522],[Craniometaphyseal dysplasia],[15013],,"Craniometaphyseal dysplasia, autosomal dominant",TRUE,FALSE,Active +GARD:15810,Active,Orphanet+OMIM,OMIM:614494,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 63,,"For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[614494],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15811,Active,Orphanet+OMIM,OMIM:614497,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 7",,,[614497],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15812,Active,Orphanet+OMIM,OMIM:614500,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 16,[Retinal dystrophy with early macular involvement],"Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by {1:Estrada-Cuzcano et al., 2012}).",[614500],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15813,Active,Orphanet+OMIM,OMIM:614504,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iiib",,"Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life ({1:Karjalainen et al., 1985}; {2:Pakarinen et al., 1995}).\n\nFor a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A ({276902}).",[614504],[231183],[Usher syndrome type 3],[5442],,,,, +GARD:15814,Active,Orphanet+OMIM,OMIM:614508,Subtype of disorder,[Disease subtype],Mirror movements 2,,"Mirror movements are involuntary movements of a side of the body that mirror intentional movements on the opposite side. Mild mirror movements are physiologic in young children and gradually disappear within the first decade of life, likely due to maturation of the motor network. Mirror movements that persist beyond age 10 years represent a rare disorder usually showing autosomal dominant inheritance with incomplete penetrance (summary by {1:Depienne et al., 2012}).\n\nFor a discussion of genetic heterogeneity of mirror movements, see MRMV1 ({157600}).",[614508],[238722],[Familial congenital mirror movements],[12551],,,,, +GARD:15815,Active,Orphanet+OMIM,OMIM:614524,Subtype of disorder,[Disease subtype],Fibrochondrogenesis 2,,"Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by {1:Tompson et al., 2012}).\n\nFor a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 ({228520}).",[614524],[2021],[Fibrochondrogenesis],[2321],,,,, +GARD:15816,Active,Orphanet+OMIM,OMIM:614565,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1e","[Csnb, complete, autosomal recessive]","Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Individuals with cCSNB and animal models of the disorder have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells (summary by {3:Peachey et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A ({310500}).",[614565],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15817,Active,Orphanet+OMIM,OMIM:614583,Subtype of disorder,[Malformation syndrome subtype],Baraitser-winter syndrome 2,,,[614583],[2995],[Baraitser-Winter cerebrofrontofacial syndrome],[5279],,,,, +GARD:15818,Active,Orphanet+OMIM,OMIM:614594,Subtype of disorder,[Disease subtype],Olmsted syndrome 1,"[Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1]","Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by {6:Lin et al., 2012}). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes ({8:Olmsted, 1927}).\n\n<Subhead> Genetic Heterogeneity of Olmsted Syndrome\n\nOLMS2 ({619208}) is caused by mutation in the PERP gene ({609301}) on chromosome 6q23.\n\nAn X-linked form of Olmsted syndrome (OLMSX; {300918}) is caused by mutation in the MBTPS2 gene ({300294}) on chromosome Xp22.",[614594],[659],[Mutilating palmoplantar keratoderma with periorificial keratotic plaques],[4075],,,,, +GARD:15819,Active,Orphanet+OMIM,OMIM:614602,Subtype of disorder,[Disease subtype],Trichohepatoenteric syndrome 2,,"Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by {2:Fabre et al., 2012}).\n\nFor a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 ({222470}).",[614602],[84064],[Syndromic diarrhea],[5258],,,,, +GARD:1582,Active,Orphanet+OMIM,OMIM:218400,Subtype of disorder,[Malformation syndrome subtype],"Craniometaphyseal dysplasia, autosomal recessive",,"Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by {10:Nurnberg et al., 1997}).\n\nThe delineation of separate autosomal dominant (CMDD; {123000}) and autosomal recessive forms of CMD by {2:Gorlin et al. (1969)} was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, whereas the recessive form is rare, severe, and possibly heterogeneous.",[218400],[1522],[Craniometaphyseal dysplasia],[15013],,"Craniometaphyseal dysplasia, autosomal recessive type",TRUE,FALSE,Active +GARD:15820,Active,Orphanet+OMIM,OMIM:614607,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 2,"[Mental retardation, autosomal dominant 14]","Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by {3:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).\n\nThe chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.",[614607],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:15821,Active,Orphanet+OMIM,OMIM:614608,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 3,"[Mental retardation, autosomal dominant 15]","Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by {2:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[614608],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:15822,Active,Orphanet+OMIM,OMIM:614609,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 4,"[Mental retardation, autosomal dominant 16]","Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by {1:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[614609],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:15823,Active,Orphanet+OMIM,OMIM:614613,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]",Acrodysostosis 2 with or without hormone resistance,,"Acrodysostosis-2 (ACRDYS2) is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by {5:Michot et al., 2012} and {2:Lee et al., 2012}).\n\nFor a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 ({101800}).",[614613],"[280651, 950]","[Acrodysostosis with multiple hormone resistance, Acrodysostosis]","[5724, 17300]",,,,, +GARD:15824,Active,Orphanet+OMIM,OMIM:614615,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 17,,,[614615],[475],[Joubert syndrome],[6802],,,,, +GARD:15825,Active,Orphanet+OMIM,OMIM:614618,Subtype of disorder,[Disease subtype],Hyperekplexia 3,,,[614618],[3197],[Hereditary hyperekplexia],[3129],,,,, +GARD:15826,Active,Orphanet+OMIM,OMIM:614619,Subtype of disorder,[Disease subtype],Hyperekplexia 2,,,[614619],[3197],[Hereditary hyperekplexia],[3129],,,,, +GARD:15827,Active,Orphanet+OMIM,OMIM:614621,Subtype of disorder,[Disease subtype],Uv-sensitive syndrome 2,,"UV-sensitive syndrome-2 (UVSS2) is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by {1:Nardo et al., 2009}).\n\nSee also Cockayne syndrome type A (CSA; {216400}), an allelic disorder with a more severe phenotype including neurologic symptoms and skeletal abnormalities.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 ({600630}).",[614621],[178338],[UV-sensitive syndrome],[10947],,,,, +GARD:15828,Active,Orphanet+OMIM,OMIM:614640,Subtype of disorder,[Disease subtype],Uv-sensitive syndrome 3,,"UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by {4:Itoh et al., 1994} and {7:Nakazawa et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 ({600630}).",[614640],[178338],[UV-sensitive syndrome],[10947],,,,, +GARD:15829,Active,Orphanet+OMIM,OMIM:614643,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7","[Walker-warburg syndrome or muscle-eye-brain disease, ispd-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {3:Roscioli et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[614643],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:1583,Active,Orphanet,ORPHA:1524,Disorder,[Malformation syndrome],Craniomicromelic syndrome,,"A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.",[602558],,,,,Craniomicromelic syndrome,TRUE,FALSE,Active +GARD:15830,Active,Orphanet+OMIM,OMIM:614662,Subtype of disorder,[Malformation syndrome subtype],Cortisone reductase deficiency 2,,"Cortisone reductase deficiency is a disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase, encoded by the HSD11B1 gene. Purified 11-beta-HSD acts readily as a dehydrogenase, inactivating cortisol to cortisone; however, in the presence of a high NADPH/NADP+ ratio, generated in vivo through the activity of microsomal hexose-6-phosphate dehydrogenase (H6PD; {138090}), 11-beta-HSD switches to ketoreductase activity and generates active glucocorticoid. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting later with hirsutism, oligomenorrhea, and infertility. Biochemically, CORTRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE), which in CORTRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by {1:Lawson et al., 2011}).\n\nFor a discussion of genetic heterogeneity of cortisone reductase deficiency, see CORTRD1 ({604931}).",[614662],[168588],[Hyperandrogenism due to cortisone reductase deficiency],[9882],,,,, +GARD:15831,Active,Orphanet+OMIM,OMIM:614669,Subtype of disorder,[Malformation syndrome subtype],Auriculocondylar syndrome 2,,"Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by {5:Rieder et al., 2012}).\n\nFor a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 ({602483}).",[614669],[137888],[Auriculocondylar syndrome],[9798],,,,, +GARD:15832,Active,Orphanet+OMIM,OMIM:614672,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 2b",,,[614672],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15833,Active,Orphanet+OMIM,OMIM:614673,Subtype of disorder,[Etiological subtype],"Microcephaly 8, primary, autosomal recessive",,,[614673],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15834,Active,Orphanet+OMIM,OMIM:614678,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1b",,"Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by {9:Wan et al., 2012}). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by {3:Halevy et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[614678],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:15835,Active,Orphanet+OMIM,OMIM:614679,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 17","[Ciliary dyskinesia, primary, 17, with or without situs inversus]","Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by {2:Panizzi et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[614679],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15836,Active,Orphanet+OMIM,OMIM:614699,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 7",,,[614699],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15837,Active,Orphanet+OMIM,OMIM:614701,Subtype of disorder,[Malformation syndrome subtype],Cornelia de lange syndrome 4 with or without midline brain defects,,,[614701],[199],[Cornelia de Lange syndrome],[10109],,,,, +GARD:15838,Active,Orphanet+OMIM,OMIM:614714,Subtype of disorder,[Disease subtype],"Porokeratosis 7, multiple types",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({2:Schamroth et al., 1997}). However, as noted by {3:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the MVD gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), solar facial porokeratosis, linear porokeratosis, and hyperkeratotic porokeratosis.\n\nThe preferred title of this entry was formerly 'Porokeratosis 7, Disseminated Superficial Actinic Type; POROK7.'\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[614714],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:15839,Active,Orphanet+OMIM,OMIM:614731,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 2",,,[614731],[1331],[Familial prostate cancer],[4520],,,,, +GARD:1584,Legacy,GARD,,,,,,,,,,,,Craniostenosis cataract,TRUE,FALSE,Active +GARD:15840,Active,Orphanet+OMIM,OMIM:614736,Subtype of disorder,[Disease subtype],Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency,,"Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by {3:Meimaridou et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200}).",[614736],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:15841,Active,Orphanet+OMIM,OMIM:614808,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 18,,,[614808],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15842,Active,Orphanet+OMIM,OMIM:614814,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 3,,"{1:Hassed et al. (2012)} described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[614814],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:15843,Active,Orphanet+OMIM,OMIM:614815,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 18,,,[614815],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:15844,Active,Orphanet+OMIM,OMIM:614819,Subtype of disorder,[Malformation syndrome subtype],Weill-marchesani syndrome 3,,"Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities ({1:Faivre et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}.",[614819],[3449],[Weill-Marchesani syndrome],[4936],,,,, +GARD:15845,Active,Orphanet+OMIM,OMIM:614820,Subtype of disorder,[Disease subtype],Alternating hemiplegia of childhood 2,,"Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by {2:Heinzen et al., 2012}).\n\nFor a discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 ({104290}).",[614820],[2131],[Alternating hemiplegia of childhood],[11],,,,, +GARD:15846,Active,Orphanet+OMIM,OMIM:614830,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8","[Walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by {1:Manzini et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[614830],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:15847,Active,Orphanet+OMIM,OMIM:614832,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia4",,,[614832],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:15848,Active,Orphanet+OMIM,OMIM:614834,Subtype of disorder,[Disease subtype],"Thyrotoxic periodic paralysis, susceptibility to, 3",,"For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to thyrotoxic periodic paralysis, see {188580}.",[614834],[79102],[Thyrotoxic periodic paralysis],[10814],,,,, +GARD:15849,Active,Orphanet+OMIM,OMIM:614837,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 8 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {6:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[614837],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:1585,Legacy,GARD,,,,,,,,,,,,Craniostenosis with congenital heart disease mental retardation,TRUE,FALSE,Retired +GARD:15850,Active,Orphanet+OMIM,OMIM:614838,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 9 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {3:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614838],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15851,Active,Orphanet+OMIM,OMIM:614840,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 11 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614840],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15852,Active,Orphanet+OMIM,OMIM:614845,Subtype of disorder,[Disease subtype],Nephronophthisis 15,,,[614845],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15853,Active,Orphanet+OMIM,OMIM:614849,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5","[Herpes simplex encephalitis, susceptibility to, 3]",,[614849],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:15854,Active,Orphanet+OMIM,OMIM:614850,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6","[Herpes simplex encephalitis, susceptibility to, 4]",,[614850],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:15855,Active,Orphanet+OMIM,OMIM:614852,Subtype of disorder,[Etiological subtype],"Microcephaly 9, primary, autosomal recessive",,"Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance ({5:Woods et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[614852],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15856,Active,Orphanet+OMIM,OMIM:614856,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xiii","[Oi, type xiii]","Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {6:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}). {4:Martinez-Glez et al. (2012)} described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.",[614856],[216812],[Osteogenesis imperfecta type 3],[8695],,,,, +GARD:15857,Active,Orphanet+OMIM,OMIM:614858,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 14 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {3:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614858],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15858,Active,Orphanet+OMIM,OMIM:614859,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 3a (zellweger),,"The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {5:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.",[614859],[912],[Zellweger syndrome],[7917],,,,, +GARD:15859,Active,Orphanet+OMIM,OMIM:614862,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 4a (zellweger),,"The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {2:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see {214100}.",[614862],[912],[Zellweger syndrome],[7917],,,,, +GARD:1586,Legacy,GARD,,,,,,,,,,,,Craniosynostosis alopecia brain defect,TRUE,FALSE,Active +GARD:15860,Active,Orphanet+OMIM,OMIM:614863,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 4b,,"Peroxisome biogenesis disorder-4B (PBD4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {5:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see {214100}.",[614863],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15861,Active,Orphanet+OMIM,OMIM:614866,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 5a (zellweger),,"The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {4:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.",[614866],[912],[Zellweger syndrome],[7917],,,,, +GARD:15862,Active,Orphanet+OMIM,OMIM:614867,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 5b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {6:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.",[614867],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15863,Active,Orphanet+OMIM,OMIM:614869,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ij",,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({2:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900}).",[614869],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:15864,Active,Orphanet+OMIM,OMIM:614870,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 6a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {4:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 7 (CG7, equivalent to CGB) have mutations in the PEX10 gene. For information on the history of PBD complementation groups, see {214100}.",[614870],[912],[Zellweger syndrome],[7917],,,,, +GARD:15865,Active,Orphanet+OMIM,OMIM:614871,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 6b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by {5:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see {214100}.",[614871],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15866,Active,Orphanet+OMIM,OMIM:614872,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 7a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}.",[614872],[912],[Zellweger syndrome],[7917],,,,, +GARD:15867,Active,Orphanet+OMIM,OMIM:614873,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 7b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {3:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see {214100}.",[614873],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15868,Active,Orphanet+OMIM,OMIM:614874,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 18","[Ciliary dyskinesia, primary, 18, with or without situs inversus]","Primary ciliary dyskinesia-18 is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by {1:Horani et al., 2012}).",[614874],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15869,Active,Orphanet+OMIM,OMIM:614876,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 8a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see {214100}.",[614876],[912],[Zellweger syndrome],[7917],,,,, +GARD:1587,Legacy,GARD,,,,,,,,,,,,Craniosynostosis arthrogryposis cleft palate,TRUE,FALSE,Active +GARD:15870,Active,Orphanet+OMIM,OMIM:614877,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 8b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {3:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see {214100}.",[614877],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15871,Active,Orphanet+OMIM,OMIM:614879,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 9b,"[Refsum disease, adult, 2, peroxisome biogenesis disorder, pex7-related, atypical]","While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1; {215100}), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia ({2:Braverman et al., 2002}). In some cases this phenotype was indistinguishable from that of classic Refsum disease ({266500}) and patients carried this diagnosis.\n\nIndividuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.",[614879],[773],[Refsum disease],[5691],,,,, +GARD:15872,Active,Orphanet+OMIM,OMIM:614880,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 15 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of the genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[614880],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15873,Active,Orphanet+OMIM,OMIM:614882,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 10a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.",[614882],[912],[Zellweger syndrome],[7917],,,,, +GARD:15874,Active,Orphanet+OMIM,OMIM:614883,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 11a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.",[614883],[912],[Zellweger syndrome],[7917],,,,, +GARD:15875,Active,Orphanet+OMIM,OMIM:614885,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 11b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {4:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see {214100}.",[614885],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15876,Active,Orphanet+OMIM,OMIM:614886,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 12a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {4:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.",[614886],[912],[Zellweger syndrome],[7917],,,,, +GARD:15877,Active,Orphanet+OMIM,OMIM:614887,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 13a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.",[614887],[912],[Zellweger syndrome],[7917],,,,, +GARD:15878,Active,Orphanet+OMIM,OMIM:614897,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 16 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {3:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[614897],[478],[Kallmann syndrome],[10771],,,,, +GARD:15879,Active,Orphanet+OMIM,OMIM:614900,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 11,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {6:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[614900],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:1588,Legacy,GARD,,,,,,,,,,,,Craniosynostosis autosomal dominant,TRUE,FALSE,Active +GARD:15880,Active,Orphanet+OMIM,OMIM:614916,Subtype of disorder,[Disease subtype],"Ventricular tachycardia, catecholaminergic polymorphic, 4",,,[614916],[3286],[Catecholaminergic polymorphic ventricular tachycardia],[4421],,,,, +GARD:15881,Active,Orphanet+OMIM,OMIM:614920,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 14b,,"PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy ({1:Ebberink et al., 2012}), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., {2:Kelley et al., 1986}; {4:Poll-The et al., 1987}). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.\n\n{5:Thoms and Gartner (2012)} classified the disorder described by {1:Ebberink et al. (2012)} in their patient as a mild 'Zellweger syndrome ({214100}) spectrum' (ZSS) disorder. See PBD1B ({601539}) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B ({614879}) for another atypical peroxisome biogenesis disorder.",[614920],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15882,Active,Orphanet+OMIM,OMIM:614926,Subtype of disorder,[Disease subtype],Perrault syndrome 2,,"Perrault syndrome-2 is an autosomal recessive disorder characterized by sensorineural deafness in both males and females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile (summary by {2:Pierce et al., 2011}).\n\nFor a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 ({233400}).",[614926],[2855],[Perrault syndrome],[2542],,,,, +GARD:15883,Active,Orphanet+OMIM,OMIM:614935,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 19","[Ciliary dyskinesia, primary, 19, with or without situs inversus]","Primary ciliary dyskinesia-19 is an autosomal recessive ciliopathy characterized by chronic sinopulmonary infections, asthenospermia, and immotile cilia. Respiratory epithelial cells and sperm flagella of affected individuals lack both the inner and outer dynein arms. About 50% of patients have situs inversus (summary by {1:Kott et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[614935],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15884,Active,Orphanet+OMIM,OMIM:614936,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma, punctate type ib",,"For a general phenotypic description and a discussion of genetic heterogeneity of the punctate type of palmoplantar keratoderma, see PPKP1A ({148600}).",[614936],[79501],[Punctate palmoplantar keratoderma type 1],[3103],,,,, +GARD:15885,Active,Orphanet+OMIM,OMIM:614941,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive","[Ectodermal dysplasia, hypohidrotic, ectodermal dysplasia, anhidrotic]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {3:Cluzeau et al., 2011}).",[614941],[248],[Autosomal recessive hypohidrotic ectodermal dysplasia],[2057],,,,, +GARD:15886,Active,Orphanet+OMIM,OMIM:614959,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 14,"[Epileptic encephalopathy, early infantile, 14]","Developmental and epileptic encephalopathy-14 (DEE14) is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by {1:Barcia et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[614959],[293181],[Malignant migrating focal seizures of infancy],[12919],,,,, +GARD:15887,Active,Orphanet+OMIM,OMIM:614970,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 20,,,[614970],"[475, 220493]","[Joubert syndrome, Joubert syndrome with ocular defect]","[10168, 6802]",,,,, +GARD:15888,Active,Orphanet+OMIM,OMIM:614972,Subtype of disorder,[Disease subtype],"Cholestasis, intrahepatic, of pregnancy 3",,"Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Women with ICP are also susceptible to oral contraceptive-induced cholestasis (OCIC). Ursodeoxycholic acid (UDCA) is an effective treatment for conditions caused by ABCB4 mutations (summary by {5:Pasmant et al., 2012}).\n\nMutation in the ABCB4 gene accounts for about 15% of ICP cases (summary by {7:Ziol et al., 2008}).\n\nFor a discussion of genetic heterogeneity of ICP, see ICP1 ({147480}).",[614972],[69665],[Intrahepatic cholestasis of pregnancy],[9804],,,,, +GARD:15889,Active,Orphanet+OMIM,OMIM:614976,Subtype of disorder,[Malformation syndrome subtype],Carpenter syndrome 2,,"Carpenter syndrome-2 (CRPT2) is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by {2:Twigg et al., 2012}).\n\nFor a discussion of genetic heterogeneity of Carpenter syndrome, see {201000}.",[614976],[65759],[Carpenter syndrome],[6003],,,,, +GARD:15890,Active,Orphanet+OMIM,OMIM:614990,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ik",,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({2:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900}).",[614990],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:15891,Active,Orphanet+OMIM,OMIM:615005,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 5",,"Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by {2:Heron et al., 2012}).\n\nFor a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 ({600513}).",[615005],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:15892,Active,Orphanet+OMIM,OMIM:615006,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 15,"[Epileptic encephalopathy, early infantile, 15]",,[615006],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:15893,Active,Orphanet+OMIM,OMIM:615007,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, 4",,"Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by {1:Nicolas et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600}).",[615007],[1980],[Bilateral striopallidodentate calcinosis],[6406],,,,, +GARD:15894,Active,Orphanet+OMIM,OMIM:615010,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 6,,,[615010],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:15895,Active,Orphanet+OMIM,OMIM:615022,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 7",,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {4:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({8:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {3:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[615022],[79394],[Congenital non-bullous ichthyosiform erythroderma],[9736],,,,, +GARD:15896,Active,Orphanet+OMIM,OMIM:615023,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 9",,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({7:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[615023],[79394],[Congenital non-bullous ichthyosiform erythroderma],[9736],,,,, +GARD:15897,Active,Orphanet+OMIM,OMIM:615024,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 10",,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {7:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({2:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({10:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {6:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {9:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {4:Eckl et al., 2005}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[615024],[79394],[Congenital non-bullous ichthyosiform erythroderma],[9736],,,,, +GARD:15898,Active,Orphanet+OMIM,OMIM:615041,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10","[Walker-warburg syndrome or muscle-eye-brain disease, tmem5-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {2:Vuillaumier-Barrot et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[615041],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:15899,Active,Orphanet+OMIM,OMIM:615058,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1f",,,[615058],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:159,Active,Orphanet,ORPHA:2036,Disorder,[Malformation syndrome],Scalp-ear-nipple syndrome,[Finlay-Marks syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.",[181270],,,,,Scalp ear nipple syndrome,TRUE,FALSE,Active +GARD:1590,Legacy,GARD,,,,,,,,,,,,Craniosynostosis cleft lip palate arthrogryposis,TRUE,FALSE,Active +GARD:15900,Active,Orphanet+OMIM,OMIM:615059,Subtype of disorder,[Disease subtype],Hypotrichosis 11,,,[615059],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:15901,Active,Orphanet+OMIM,OMIM:615066,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xiv","[Oi, type xiv]","Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {2:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}).\n\n{1:Shaheen et al. (2012)} described osteogenesis imperfecta type XIV (OI14), an autosomal recessive form of the disorder characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.",[615066],[216820],[Osteogenesis imperfecta type 4],[8696],,,,, +GARD:15902,Active,Orphanet+OMIM,OMIM:615067,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 20","[Ciliary dyskinesia, primary, 20, with or without situs inversus]","CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615067],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15903,Active,Orphanet+OMIM,OMIM:615072,Subtype of disorder,[Malformation syndrome subtype],"Brachydactyly, type a1, c",,,[615072],[93388],[Brachydactyly type A1],[978],,,,, +GARD:15904,Active,Orphanet+OMIM,OMIM:615081,Subtype of disorder,[Disease subtype],Spermatogenic failure 11,,,[615081],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15905,Active,Orphanet+OMIM,OMIM:615085,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 8",,,[615085],[667],[Autosomal recessive malignant osteopetrosis],[15012],,,,, +GARD:15906,Active,Orphanet+OMIM,OMIM:615092,Subtype of disorder,[Disease subtype],Left ventricular noncompaction 7,,,[615092],[54260],[Left ventricular noncompaction],[10985],,,,, +GARD:15907,Active,Orphanet+OMIM,OMIM:615112,Subtype of disorder,[Malformation syndrome subtype],Urofacial syndrome 2,,"Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by {1:Stuart et al., 2013}).\n\nFor a discussion of genetic heterogeneity of UFS, see UFS1 ({236730}).",[615112],[2704],[Ochoa syndrome],[104],,,,, +GARD:15908,Active,Orphanet+OMIM,OMIM:615120,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 8","[Myasthenic syndrome, congenital, with pre- and postsynaptic defects, myasthenic syndrome, congenital, due to agrin deficiency]","Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by {3:Maselli et al., 2012}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[615120],"[98913, 98914]","[Presynaptic congenital myasthenic syndromes, Postsynaptic congenital myasthenic syndromes]","[15022, 15023]",,,,, +GARD:15909,Active,Orphanet+OMIM,OMIM:615145,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 9",,"MCOPCB9 is characterized by isolated microphthalmia and coloboma ({1:Aldahmesh et al., 2012}). MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis ({2:Chassaing et al., 2016}; {4:Stephen et al., 2018}; {3:Singh et al., 2019}).",[615145],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:1591,Legacy,GARD,,,,,,,,,,,,Craniosynostosis contractures cleft,TRUE,FALSE,Active +GARD:15910,Active,Orphanet+OMIM,OMIM:615157,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 2",,"Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by {2:Ghezzi et al., 2011}). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances ({3:Morino et al., 2014}; {1:Atwal, 2014}; {4:Nogueira et al., 2013}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 ({124000}).",[615157],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15911,Active,Orphanet+OMIM,OMIM:615158,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 3",,,[615158],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15912,Active,Orphanet+OMIM,OMIM:615159,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 4",,,[615159],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15913,Active,Orphanet+OMIM,OMIM:615160,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 5",,,[615160],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15914,Active,Orphanet+OMIM,OMIM:615163,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 17,,"For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see {120970}.",[615163],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15915,Active,Orphanet+OMIM,OMIM:615181,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11","[Walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {2:Stevens et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[615181],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15916,Active,Orphanet+OMIM,OMIM:615184,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1ii",,,[615184],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15917,Active,Orphanet+OMIM,OMIM:615190,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 5",,"Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by {5:Walne et al., 2013}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[615190],"[1775, 3322]","[Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome]","[10905, 346]",,,,, +GARD:15918,Active,Orphanet+OMIM,OMIM:615214,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 7, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to pik3r1 defect]",,[615214],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15919,Active,Orphanet+OMIM,OMIM:615220,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xv","[Oi, type xv]","Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {8:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}). {4:Keupp et al. (2013)} and {7:Pyott et al. (2013)} described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.",[615220],"[216820, 216812]","[Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[8695, 8696]",,,,, +GARD:1592,Legacy,GARD,,,,,,,,,,,,Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus,TRUE,FALSE,Active +GARD:15920,Active,Orphanet+OMIM,OMIM:615221,Subtype of disorder,[Malformation syndrome subtype],Bone mineral density quantitative trait locus 16,"[Osteoporosis, early-onset, susceptibility to]",,[615221],[85193],[Idiopathic juvenile osteoporosis],[6760],,,,, +GARD:15921,Active,Orphanet+OMIM,OMIM:615222,Subtype of disorder,[Disease subtype],Smith-mccort dysplasia 2,,"Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC; {223800}), which is distinguished from SMC by the additional feature of mental retardation (summary by {2:Dupuis et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 ({607326}).",[615222],[178355],[Smith-McCort dysplasia],[10620],,,,, +GARD:15922,Active,Orphanet+OMIM,OMIM:615224,Subtype of disorder,[Disease subtype],"Advanced sleep phase syndrome, familial, 2",,"Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by {2:Jones et al., 1999}).\n\nFor a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 ({604348}).",[615224],[164736],[Familial advanced sleep-phase syndrome],[9242],,,,, +GARD:15923,Active,Orphanet+OMIM,OMIM:615233,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 66,,,[615233],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15924,Active,Orphanet+OMIM,OMIM:615235,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1jj",,,[615235],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15925,Active,Orphanet+OMIM,OMIM:615244,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 8",,,[615244],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15926,Active,Orphanet+OMIM,OMIM:615248,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1kk",,,[615248],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15927,Active,Orphanet+OMIM,OMIM:615249,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12","[Walker-warburg syndrome or muscle-eye-brain disease, pomk-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as dystroglycanopathies (summary by {3:Stevens et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[615249],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:15928,Active,Orphanet+OMIM,OMIM:615266,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 17 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615266],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15929,Active,Orphanet+OMIM,OMIM:615267,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 18 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615267],[478],[Kallmann syndrome],[10771],,,,, +GARD:1593,Legacy,GARD,,,,,,,,,,,,Craniosynostosis exostoses nevus epibulbar dermoid,TRUE,FALSE,Active +GARD:15930,Active,Orphanet+OMIM,OMIM:615268,Subtype of disorder,[Disease subtype],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4",[Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by {1:Gulsuner et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 ({224050}).",[615268],[1766],[Dysequilibrium syndrome],[1998],,,,, +GARD:15931,Active,Orphanet+OMIM,OMIM:615269,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 19 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615269],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15932,Active,Orphanet+OMIM,OMIM:615270,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 20 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615270],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15933,Active,Orphanet+OMIM,OMIM:615271,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 21 with or without anosmia,,"Hypogonadotropic hypogonadism-21 (HH21) is characterized by partial or absent puberty in anosmic patients, in association with small testicular volumes in men and primary amenorrhea in women. Low bone mass has also been reported in some patients ({1:Miraoui et al., 2013}).\n\nCongenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615271],[478],[Kallmann syndrome],[10771],,,,, +GARD:15934,Active,Orphanet+OMIM,OMIM:615272,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group q",,"Fanconi anemia (FA) is a rare genomic instability disorder characterized by bone marrow failure, congenital malformations, hypersensitivity to DNA interstrand crosslink-inducing agents, chromosome fragility, and high susceptibility to cancer (summary by {1:Bogliolo et al., 2013}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[615272],[84],[Fanconi anemia],[6425],,,,, +GARD:15935,Active,Orphanet+OMIM,OMIM:615278,Subtype of disorder,[Malformation syndrome subtype],Cardiofaciocutaneous syndrome 2,,"Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by {3:Niihori et al., 2006}). In a phenotypic comparison of BRAF ({164757})-positive and KRAS-positive individuals with CFC, {3:Niihori et al. (2006)} observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutations.",[615278],[1340],[Cardiofaciocutaneous syndrome],[9146],,,,, +GARD:15936,Active,Orphanet+OMIM,OMIM:615279,Subtype of disorder,[Malformation syndrome subtype],Cardiofaciocutaneous syndrome 3,,"Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures ({3:Schulz et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of cardiofaciocutaneous syndrome, see CFC1 ({115150}).",[615279],[1340],[Cardiofaciocutaneous syndrome],[9146],,,,, +GARD:15937,Active,Orphanet+OMIM,OMIM:615280,Subtype of disorder,[Malformation syndrome subtype],Cardiofaciocutaneous syndrome 4,,"Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by {2:Rauen et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of cardiofaciocutaneous syndrome, see CFC1 ({115150}).",[615280],[1340],[Cardiofaciocutaneous syndrome],[9146],,,,, +GARD:15938,Active,Orphanet+OMIM,OMIM:615287,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13","[Walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as dystroglycanopathies (summary by {1:Buysse et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[615287],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:15939,Active,Orphanet+OMIM,OMIM:615293,Subtype of disorder,[Disease subtype],"Myofibromatosis, infantile, 2",,"Infantile myofibromatosis is a disorder of mesenchymal proliferation characterized by the development of benign tumors in the skin, muscle, bone, and viscera. Soft tissue lesions may regress spontaneously. Visceral lesions are associated with high morbidity and mortality (summary by {1:Martignetti et al., 2013}).\n\nFor a discussion of genetic heterogeneity of infantile myofibromatosis, see IMF1 ({228550}).",[615293],[2591],[Infantile myofibromatosis],[2998],,,,, +GARD:15940,Active,Orphanet+OMIM,OMIM:615294,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 21","[Ciliary dyskinesia, primary, 21, without situs inversus]","Primary ciliary dyskinesia-21 (CILD21) is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by {2:Wirschell et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[615294],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15941,Active,Orphanet+OMIM,OMIM:615297,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 4,,"Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by {2:Shaheen et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[615297],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:15942,Active,Orphanet+OMIM,OMIM:615298,Subtype of disorder,[Malformation syndrome subtype],"Symphalangism, proximal, 1b",,,[615298],[3250],[Proximal symphalangism],[8182],,,,, +GARD:15943,Active,Orphanet+OMIM,OMIM:615300,Subtype of disorder,[Disease subtype],Perrault syndrome 4,,"Perrault syndrome-4 (PRLTS4) is an autosomal recessive disorder primarily characterized by early-onset sensorineural hearing loss in both males and females, and premature ovarian failure (POF) in females. Affected individuals may also develop neurologic involvement, including developmental delay or learning difficulties in childhood or onset of progressive movement abnormalities, such as spasticity, in adulthood. Brain imaging may show progressive leukodystrophy (summary by {3:Pierce et al., 2013}, {2:Kosaki et al., 2018} and {6:van der Knaap et al., 2019}).\n\nFor a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 ({233400}).",[615300],[2855],[Perrault syndrome],[2542],,,,, +GARD:15944,Active,Orphanet+OMIM,OMIM:615327,Subtype of disorder,[Disease subtype],Dowling-degos disease 2,,"Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by {1:Li et al., 2013}).\n\n<Subhead> Review of Reticulate Pigment Disorders\n\n{2:Muller et al. (2012)} reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK), reticulate acropigmentation of Dohi (DSH, RAD; {127400}), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. {2:Muller et al. (2012)} also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). {2:Muller et al. (2012)} concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity.\n\nFor a discussion of genetic heterogeneity of reticulate pigment disorders, see {179850}.",[615327],[79145],[Dowling-Degos disease],[9775],,,,, +GARD:15945,Active,Orphanet+OMIM,OMIM:615338,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 16,"[Epileptic encephalopathy, early infantile, 16]","Developmental and epileptic encephalopathy-16 (DEE16) is a severe autosomal recessive neurologic disorder characterized by the onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood (summary by {1:Duru et al., 2010} and {3:Milh et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615338],[293181],[Malignant migrating focal seizures of infancy],[12919],,,,, +GARD:15946,Active,Orphanet+OMIM,OMIM:615348,Subtype of disorder,[Disease subtype],Nemaline myopathy 8,,"Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by {2:Ravenscroft et al., 2013}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800}).",[615348],[171430],[Severe congenital nemaline myopathy],[12821],,,,, +GARD:15947,Active,Orphanet+OMIM,OMIM:615349,Subtype of disorder,[Clinical subtype],"Ehlers-danlos syndrome, spondylodysplastic type, 2","[Ehlers-danlos syndrome, progeroid type, 2, formerly]","The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin ({2:Okajima et al., 1999}).\n\nFor a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.",[615349],[75496],[B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome],[9991],,,,, +GARD:15948,Active,Orphanet+OMIM,OMIM:615350,Subtype of disorder,[Malformation syndrome subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14","[Walker-warburg syndrome or muscle-eye-brain disease, gmppb-related]",,[615350],[588],[Muscle-eye-brain disease],[156],,,,, +GARD:15949,Active,Orphanet+OMIM,OMIM:615355,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 8,,"Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by {1:Aoki et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[615355],[648],[Noonan syndrome],[10955],,,,, +GARD:1595,Legacy,GARD,,,,,,,,,,,,Craniosynostosis Fontaine type,TRUE,FALSE,Active +GARD:15950,Active,Orphanet+OMIM,OMIM:615360,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 17,,,[615360],[65],[Leber congenital amaurosis],[634],,,,, +GARD:15951,Active,Orphanet+OMIM,OMIM:615361,Subtype of disorder,[Clinical subtype],"Hypocalcemia, autosomal dominant 2",,,[615361],[428],[Autosomal dominant hypocalcemia],[2877],,,,, +GARD:15952,Active,Orphanet+OMIM,OMIM:615373,Subtype of disorder,[Disease subtype],Left ventricular noncompaction 8,,,[615373],[54260],[Left ventricular noncompaction],[10985],,,,, +GARD:15953,Active,Orphanet+OMIM,OMIM:615374,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 18,,,[615374],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15954,Active,Orphanet+OMIM,OMIM:615377,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 13",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583}).",[615377],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15955,Active,Orphanet+OMIM,OMIM:615378,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 14",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583}).",[615378],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15956,Active,Orphanet+OMIM,OMIM:615396,Subtype of disorder,[Disease subtype],Left ventricular noncompaction 10,,,[615396],[54260],[Left ventricular noncompaction],[10985],,,,, +GARD:15957,Active,Orphanet+OMIM,OMIM:615397,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 11",,,[615397],[564],[Meckel syndrome],[3436],,,,, +GARD:15958,Active,Orphanet+OMIM,OMIM:615399,Subtype of disorder,[Disease subtype],Paroxysmal nocturnal hemoglobinuria 2,,,[615399],[447],[Paroxysmal nocturnal hemoglobinuria],[7337],,,,, +GARD:15959,Active,Orphanet+OMIM,OMIM:615402,Subtype of disorder,[Disease subtype],Dyschromatosis universalis hereditaria 3,,"Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by {2:Zhang et al., 2013}).\n\nFor a discussion of genetic heterogeneity of DUH, see DUH1 ({127500}).",[615402],[241],[Dyschromatosis universalis hereditaria],[1996],,,,, +GARD:15960,Active,Orphanet+OMIM,OMIM:615413,Subtype of disorder,[Disease subtype],Spermatogenic failure 12,,,[615413],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15961,Active,Orphanet+OMIM,OMIM:615418,Subtype of disorder,[Disease subtype],"Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive",,"Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by {3:Echaniz-Laguna et al., 2012}).\n\nFor a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 ({603041}).",[615418],[1369],[Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome],[1142],,,,, +GARD:15962,Active,Orphanet+OMIM,OMIM:615422,Subtype of disorder,[Disease subtype],Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2,[Multisystem proteinopathy 2],,[615422],[52430],[Inclusion body myopathy with Paget disease of bone and frontotemporal dementia],[10899],,,,, +GARD:15963,Active,Orphanet+OMIM,OMIM:615424,Subtype of disorder,[Disease subtype],Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3,[Multisystem proteinopathy 3],,[615424],[52430],[Inclusion body myopathy with Paget disease of bone and frontotemporal dementia],[10899],,,,, +GARD:15964,Active,Orphanet+OMIM,OMIM:615426,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 20,,,[615426],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15965,Active,Orphanet+OMIM,OMIM:615434,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 82 with or without situs inversus,,,[615434],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15966,Active,Orphanet+OMIM,OMIM:615436,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 8",,,[615436],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:15967,Active,Orphanet+OMIM,OMIM:615441,Subtype of disorder,[Disease subtype],"Cardiac arrhythmia syndrome, with or without skeletal muscle weakness","[Triaden knockout syndrome, ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness]","Cardiac arrhythmia syndrome with or without skeletal muscle weakness (CARDAR) is characterized by onset of exercise- or emotion-induced cardiac arrhythmias in infancy or early childhood, associated with syncope or cardiac arrest. Electrocardiography shows variable abnormalities, including polymorphic or bidirectional ventricular extrasystoles and/or transient or persistent prolonged QT intervals, as well as inverted T-waves across the precordial leads. Cardiac events are refractory to both beta-blockers and left cardiac sympathetic denervation. Skeletal muscle weakness has been reported in some patients ({7:Roux-Buisson et al., 2012}; {1:Altmann et al., 2015}).\n\n<Subhead> Reviews\n\n{3:Giudicessi and Ackerman (2016)} reviewed the role of Ca(2+) cycling in cardiac repolarization and in the pathogenesis of long QT-associated cardiac arrhythmias. They noted that TRDN-null mouse models show remodeling of the calcium release unit molecular architecture, implicating either early or delayed after-depolarization as the mechanism predominantly responsible for the observed ventricular arrhythmias.\n\n{2:Clemens et al. (2019)} established an International Triadin Knockout Syndrome Registry and reviewed 14 previously published patients with TRDN-associated cardiac arrhythmias, as well as 7 additional patients. Affected individuals presented with either cardiac arrest or syncope at an average age of 3 years. The most common trigger was physical exertion, although a large number of events were not associated with a specific trigger. Mild skeletal myopathy or slight proximal muscle weakness was observed in 6 (29%) of the patients. Two patients died after cardiac events. Of the 19 surviving patients, 16 (84%) showed T-wave inversions across precordial leads, extending to V3 or V4, and 10 (53%) had transient QT prolongation greater than 480 ms. In addition, 8 (89%) of 9 patients who underwent exercise stress testing exhibited ventricular ectopy. All 16 patients tested had normal echocardiograms. The 19 surviving patients were treated with beta-blockers, and 13 (68%) also received implantable defibrillators; however, despite treatment, 14 (74%) of the patients experienced recurrent breakthrough cardiac events.",[615441],[3286],[Catecholaminergic polymorphic ventricular tachycardia],[4421],,,,, +GARD:15968,Active,Orphanet+OMIM,OMIM:615444,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 22","[Ciliary dyskinesia, primary, 22, with or without situs inversus]","Primary ciliary dyskinesia-22 (CILD22) is an autosomal recessive disorder caused by defective structure and function of cilia or flagella. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic cough, sinusitis, bronchiectasis, and male infertility. Defective motility of embryonic nodal cilia leads to situs abnormalities in about 50% of patients. CILD22 is characterized by defects of the inner and outer dynein arms (summary by {2:Zariwala et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[615444],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15969,Active,Orphanet+OMIM,OMIM:615451,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 23","[Ciliary dyskinesia, primary, 23, with or without situs inversus]","Primary ciliary dyskinesia-23 is an autosomal recessive disorder resulting from defective ciliary motility. Affected individuals have respiratory distress and recurrent upper and lower airway infections, and they often develop bronchiectasis. About 50% of patients have situs inversus or laterality defects. Ultrastructural analysis of respiratory cilia shows defects in the outer dynein arm (summary by {1:Hjeij et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615451],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15970,Active,Orphanet+OMIM,OMIM:615453,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 6",,"Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by {1:Gaignard et al., 2013}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 ({124000}).",[615453],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15971,Active,Orphanet+OMIM,OMIM:615481,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 24","[Ciliary dyskinesia, primary, 24, without situs inversus]","Primary ciliary dyskinesia-24 is an autosomal recessive disorder resulting from defects of motile cilia. It is characterized clinically by sinopulmonary infection and subfertility; situs inversus is not observed. Ultrastructural examination of mutant cilia shows defects of the central microtubule complex and radial spokes (summary by {1:Kott et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615481],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15972,Active,Orphanet+OMIM,OMIM:615482,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 25","[Ciliary dyskinesia, primary, 25, with or without situs inversus]","Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by {1:Tarkar et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615482],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15973,Active,Orphanet+OMIM,OMIM:615483,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, 5",,"Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by {1:Keller et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600}).",[615483],[1980],[Bilateral striopallidodentate calcinosis],[6406],,,,, +GARD:15974,Active,Orphanet+OMIM,OMIM:615500,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 26","[Ciliary dyskinesia, primary, 26, with or without situs inversus]","Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by {1:Austin-Tse et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615500],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15975,Active,Orphanet+OMIM,OMIM:615503,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 8 with or without polydactyly,"[Short rib-polydactyly syndrome, type vi]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[615503],[93271],"[Short rib-polydactyly syndrome, Verma-Naumoff type]",[4835],,,,, +GARD:15976,Active,Orphanet+OMIM,OMIM:615504,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 27","[Ciliary dyskinesia, primary, 27, without situs inversus]","Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms and nexin links. Situs inversus has not been reported in these patients (summary by {1:Austin-Tse et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615504],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15977,Active,Orphanet+OMIM,OMIM:615505,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 28","[Ciliary dyskinesia, primary, 28, with or without situs inversus]","Primary ciliary dyskinesia-28 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms (summary by {1:Knowles et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[615505],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15978,Active,Orphanet+OMIM,OMIM:615506,Subtype of disorder,[Disease subtype],"Telangiectasia, hereditary hemorrhagic, type 5",,"Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant syndrome characterized by telangiectases and arteriovenous malformations (AVMs). Hallmark features are recurrent epistaxis due to telangiectases of the nasal mucosa; telangiectases on the lips, hands, and oral mucosa; solid-organ AVMs, particularly of the lungs, liver, and brain; and a family history of the same. Presentation with 3 of these criteria is considered diagnostic for HHT (summary by {1:Wooderchak-Donahue et al., 2013}).",[615506],[774],[Hereditary hemorrhagic telangiectasia],[6626],,,,, +GARD:15979,Active,Orphanet+OMIM,OMIM:615513,Subtype of disorder,[Disease subtype],"Immunodeficiency 14a, autosomal dominant","[p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency, Activated pi3k-delta syndrome]","Autosomal dominant immunodeficiency-14A (IMD14A) is a primary immunodeficiency characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas (summary by {4:Lucas et al., 2014}).",[615513],[397596],[Activated PI3K-delta syndrome],[11983],,,,, +GARD:1598,Legacy,GARD,,,,,,,,,,,,Craniosynostosis Maroteaux Fonfria type,TRUE,FALSE,Active +GARD:15980,Active,Orphanet+OMIM,OMIM:615515,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 19,,,[615515],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15981,Active,Orphanet+OMIM,OMIM:615527,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 8","[Candidiasis, familial chronic mucocutaneous, autosomal recessive]","Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae with Candida albicans, and sometimes by staphylococcal skin infections (summary by {1:Boisson et al., 2013}).\n\nFor a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 ({114580}).",[615527],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15982,Active,Orphanet+OMIM,OMIM:615539,Subtype of disorder,[Disease subtype],"Ehlers-danlos syndrome, musculocontractural type, 2",,"The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by {1:Muller et al., 2013}).\n\nFor a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 ({601776}).",[615539],[2953],[Musculocontractural Ehlers-Danlos syndrome],[8486],,,,, +GARD:15983,Active,Orphanet+OMIM,OMIM:615544,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 6,,,[615544],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:15984,Active,Orphanet+OMIM,OMIM:615546,Subtype of disorder,[Malformation syndrome subtype],Van maldergem syndrome 2,,"Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by {1:Cappello et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Van Maldergem syndrome, see {601390}.",[615546],[314679],[Cerebrofacioarticular syndrome],[5456],,,,, +GARD:15985,Active,Orphanet+OMIM,OMIM:615550,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 12,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {1:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of DBA, see DBA1 ({105650}).",[615550],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15986,Active,Orphanet+OMIM,OMIM:615557,Subtype of disorder,[Disease subtype],"Melioidosis, susceptibility to",,"Melioidosis is infection caused by the gram-negative, flagellated soil saprophyte Burkholderia pseudomallei, which is endemic in parts of southeast Asia and northern Australia. Sepsis is a common clinical presentation of disease, and lung is the organ most commonly involved. In northern Thailand, where B. pseudomallei is the most common bloodstream isolate, the overall melioidosis mortality rate exceeds 40%, and pneumonia confers more than 2-fold increased risk of death (summary by {1:West et al., 2013}).",[615557],[31202],[Melioidosis],[9546],,,,, +GARD:15987,Active,Orphanet+OMIM,OMIM:615559,Subtype of disorder,[Disease subtype],"Autoimmune lymphoproliferative syndrome, type iii","[Immunodeficiency, common variable, 9, formerly]","Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by {6:Oliveira, 2013}).\n\nFor a general description and a discussion of genetic heterogeneity of ALPS, see {601859}.",[615559],[3261],[Autoimmune lymphoproliferative syndrome],[8686],,,,, +GARD:15988,Active,Orphanet+OMIM,OMIM:615565,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 67,,"Retinitis pigmentosa (RP) is the name given to a group of hereditary retinal conditions in which degeneration of rod photoreceptors, responsible for vision under dark conditions, is more pronounced than that of cone photoreceptors, which mediate daylight vision. Individuals with RP typically experience night blindness at first, followed by progressive and unstoppable visual impairment in daytime conditions as well. Their visual fields become reduced gradually and sight is lost from the midperiphery to the periphery, then from the midperiphery to the center, resulting eventually in complete or near-complete blindness if left untreated. Most patients show intraretinal pigment in a bone-spicule configuration around the fundus periphery as well as retinal arteriolar attenuation, elevated final dark-adapted thresholds, and reduced and delayed electroretinograms. Autosomal recessive RP is the most common form of hereditary retinal degeneration in humans (summary by {1:Nishiguchi et al., 2013}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[615565],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15989,Active,Orphanet+OMIM,OMIM:615573,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 9",,"Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by {1:Ashraf et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300}).",[615573],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:1599,Legacy,GARD,,,,,,,,,,,,Craniosynostosis mental retardation clefting syndrome,TRUE,FALSE,Retired +GARD:15990,Active,Orphanet+OMIM,OMIM:615577,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 10","[deficit in anterior pituitary function and variable immunodeficiency, Immunodeficiency, common variable, with central adrenal insufficiency]","Common variable immunodeficiency-10 (CVID10) is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by {3:Chen et al., 2013}).\n\nFor a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 ({607594}).",[615577],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15991,Active,Orphanet+OMIM,OMIM:615605,Subtype of disorder,[Disease subtype],Fanconi renotubular syndrome 3,,"Fanconi renotubular syndrome-3 (FRTS3) is an autosomal dominant disorder characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria (summary by {1:Klootwijk et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 ({134600}).",[615605],[3337],[Primary Fanconi renotubular syndrome],[9118],,,,, +GARD:15992,Active,Orphanet+OMIM,OMIM:615619,Subtype of disorder,[Disease subtype],"Cholangiocarcinoma, susceptibility to","[Chlc, susceptibility to]","Carcinomas of the biliary tract are aggressive malignancies, with 5-year survival of less than 10%. These carcinomas arise throughout the biliary tree and are anatomically classified as either intrahepatic or extrahepatic cholangiocarcinomas. Gallbladder carcinomas also arise from the biliary tree but have distinct natural histories compared to cholangiocarcinomas, suggesting different underlying tumor biology.\n\nCholangiocarcinoma incidence varies widely between geographic regions, reflecting the impact of different underlying etiologies. In endemic areas, liver fluke infections by O. viverrini and Clonorchis sinensis, both group I carcinogens, represent the major risk factor for cholangiocarcinomas. In nonendemic regions, other risk factors, including choledochal cysts ({603003}), hepatolithiasis, and primary sclerosing cholangitis ({613806}), are likely contributors (summary by {1:Chan-on et al., 2013}). Overall, the majority of patients lack such identifiable risk factors (summary by {2:Jiao et al., 2013}).",[615619],[70567],[Cholangiocarcinoma],[9304],,,,, +GARD:15993,Active,Orphanet+OMIM,OMIM:615630,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 10 with or without polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {3:Huber and Cormier-Daire, 2012} and {4:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[615630],[474],[Jeune syndrome],[3049],,,,, +GARD:15994,Active,Orphanet+OMIM,OMIM:615631,Subtype of disorder,[Disease subtype],"Anemia, congenital dyserythropoietic, type ib","[Cda, type ib]","Congenital dyserythropoietic anemia type I is an autosomal recessive hematologic disorder characterized by congenital macrocytic anemia secondary to ineffective erythropoiesis. The bone marrow shows erythroid hyperplasia, with nuclear abnormalities in most erythroblasts. Up to 3% of erythroblasts have interchromatin bridges, and erythroblast nuclei are abnormally electron dense with spongy ('Swiss cheese-like') heterochromatin on electron microscopy. Some reported patients have distal digital abnormalities (summary by {2:Ahmed et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CDA, see CDAN1A ({224120}).",[615631],[98869],[Congenital dyserythropoietic anemia type I],[2000],,,,, +GARD:15995,Active,Orphanet+OMIM,OMIM:615632,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory, type if",[Hsn if],"Hereditary sensory neuropathy type IF is an autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment (summary by {2:Kornak et al., 2014}).\n\nFor a discussion of genetic heterogeneity of HSN, see HSAN1A ({162400}).",[615632],[36386],[Hereditary sensory and autonomic neuropathy type 1],[6635],,,,, +GARD:15996,Active,Orphanet+OMIM,OMIM:615633,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 11 with or without polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[615633],"[93271, 474]","[Short rib-polydactyly syndrome, Verma-Naumoff type, Jeune syndrome]","[3049, 4835]",,,,, +GARD:15997,Active,Orphanet+OMIM,OMIM:615636,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 21,,"Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by {1:Akizu et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[615636],"[397715, 475]","[Joubert syndrome with Jeune asphyxiating thoracic dystrophy, Joubert syndrome]","[6802, 17637]",,,,, +GARD:15998,Active,Orphanet+OMIM,OMIM:615663,Subtype of disorder,[Malformation syndrome subtype],Warburg micro syndrome 4,,"Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by {4:Morris-Rosendahl et al., 2010}).\n\nFor a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.",[615663],[2510],[Micro syndrome],[5534],,,,, +GARD:15999,Active,Orphanet+OMIM,OMIM:615665,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 22,,,[615665],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:16,Active,Orphanet,ORPHA:1125,Disorder,[Disease],"Ocular motor apraxia, Cogan type","[Oculomotor apraxia, Cogan type]","Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.",[257550],,,,,Oculomotor apraxia Cogan type,TRUE,FALSE,Active +GARD:160,Active,Orphanet,ORPHA:3130,Disorder,[Disease],Satoyoshi syndrome,[Komuragaeri disease],"Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.",[600705],,,,,Satoyoshi syndrome,TRUE,FALSE,Active +GARD:1600,Legacy,GARD,,,,,,,,,,,,Craniosynostosis mental retardation heart defects,TRUE,FALSE,Retired +GARD:16000,Active,Orphanet+OMIM,OMIM:615670,Subtype of disorder,[Disease subtype],Schwannomatosis 2,,"Schwannomatosis is an adult-onset tumor predisposition syndrome characterized by the development of multiple schwannomas in various areas of the body (summary by {1:Piotrowski et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of schwannomatosis, see SWNTS1 ({162091}).",[615670],[93921],[Schwannomatosis],[4768],,,,, +GARD:16001,Active,Orphanet+OMIM,OMIM:615674,Subtype of disorder,[Disease subtype],Dowling-degos disease 3,,"For a general phenotypic description and a discussion of genetic heterogeneity of Dowling-Degos disease, see DDD1 ({179850}).",[615674],[79145],[Dowling-Degos disease],[9775],,,,, +GARD:16002,Active,Orphanet+OMIM,OMIM:615696,Subtype of disorder,[Disease subtype],Dowling-degos disease 4,,,[615696],[79145],[Dowling-Degos disease],[9775],,,,, +GARD:16003,Active,Orphanet+OMIM,OMIM:615706,Subtype of disorder,[Malformation syndrome subtype],Auriculocondylar syndrome 3,,"Auriculocondylar syndrome (ARCND) is a rare craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia, prominent cheeks, and question mark ears (QMEs). QMEs consist of a defect between the lobe and the upper two-thirds of the pinna, ranging from a mild indentation in the helix to a complete cleft between the lobe and helix (summary by {1:Gordon et al., 2013}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 ({602483}).",[615706],[137888],[Auriculocondylar syndrome],[9798],,,,, +GARD:16004,Active,Orphanet+OMIM,OMIM:615725,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 68,,,[615725],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16005,Active,Orphanet+OMIM,OMIM:615726,Subtype of disorder,[Disease subtype],Pachyonychia congenita 3,,"Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {13:Sybert, 2010}; {4:Eliason et al., 2012}; {7:McLean et al., 2011}).\n\nFor a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{6:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{10:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {14:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.",[615726],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:16006,Active,Orphanet+OMIM,OMIM:615728,Subtype of disorder,[Disease subtype],Pachyonychia congenita 4,,"Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {9:Sybert, 2010}; {1:Eliason et al., 2012}; {4:McLean et al., 2011}).\n\nFor a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{2:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{7:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {10:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.",[615728],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:16007,Active,Orphanet+OMIM,OMIM:615731,Subtype of disorder,[Disease subtype],Nemaline myopathy 9,,"Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by {1:Gupta et al., 2013}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.",[615731],"[171436, 171433, 171430, 171439]","[Severe congenital nemaline myopathy, Typical nemaline myopathy, Intermediate nemaline myopathy, Childhood-onset nemaline myopathy]","[12821, 12822, 12823, 7171]",,,,, +GARD:16008,Active,Orphanet+OMIM,OMIM:615744,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 19,"[Epileptic encephalopathy, early infantile, 19]","Developmental and epileptic encephalopathy-19 (DEE19) is a neurologic disorder characterized by the onset of various types of seizures in the first year of life, usually between 8 and 12 months of age. Seizures are often triggered by fever, and status epilepticus may occur. Affected individuals subsequently show mild to moderately impaired intellectual development. Brain imaging is typically normal. The clinical phenotype is similar to that of Dravet syndrome (DRVT; {607208}) (summary by {1:Carvill et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615744],[33069],[Dravet syndrome],[10430],,,,, +GARD:16009,Active,Orphanet+OMIM,OMIM:615752,Subtype of disorder,[Clinical subtype],"Polymicrogyria, bilateral perisylvian, autosomal recessive",[Pmgr],"Autosomal recessive bilateral perisylvian polymicrogyria is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability ({1:Bae et al., 2014}).",[615752],[98889],[Bilateral perisylvian polymicrogyria],[6011],,,,, +GARD:1601,Active,Orphanet,ORPHA:1527,Disorder,[Malformation syndrome],"Craniosynostosis, Philadelphia type",,"Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.",[185900],,,,,Craniosynostosis Philadelphia type,TRUE,FALSE,Active +GARD:16010,Active,Orphanet+OMIM,OMIM:615770,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 15",,"Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by {1:Oberti et al., 2004}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[615770],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:16011,Active,Orphanet+OMIM,OMIM:615780,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 69,,"Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by {1:El Shamieh et al., 2014}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[615780],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16012,Active,Orphanet+OMIM,OMIM:615785,Subtype of disorder,[Disease subtype],White sponge nevus 2,,,[615785],[171723],[White sponge nevus],[8501],,,,, +GARD:16013,Active,Orphanet+OMIM,OMIM:615807,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 8,,"Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by {2:Shanske et al., 1997}).\n\nFor a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 ({210600}).",[615807],[808],[Seckel syndrome],[8562],,,,, +GARD:16014,Active,Orphanet+OMIM,OMIM:615821,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis",,,[615821],[65282],[Carvajal syndrome],[5595],,,,, +GARD:16015,Active,Orphanet+OMIM,OMIM:615824,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 7",,,[615824],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:16016,Active,Orphanet+OMIM,OMIM:615830,Subtype of disorder,[Disease subtype],"Pigmented nodular adrenocortical disease, primary, 4","[chromosome 19p13 duplication syndrome, Cushing syndrome, adrenal, due to ppnad4]","Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by {2:Cao et al., 2014}; {5:Sato et al., 2014}).",[615830],[189439],[Primary pigmented nodular adrenocortical disease],[10906],,,,, +GARD:16017,Active,Orphanet+OMIM,OMIM:615833,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 21,"[Epileptic encephalopathy, early infantile, 21]","Developmental and epileptic encephalopathy-21 (DEE21) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life. Affected individuals have severely impaired psychomotor development with poor head control and inability to fix and follow visually. Other features may include axial hypotonia, peripheral hypertonia, and cerebral atrophy or delayed myelination on brain imaging (summary by {1:Alazami et al., 2014} and {2:Alsahli et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615833],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16018,Active,Orphanet+OMIM,OMIM:615838,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 8",,"Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by {1:Dallabona et al., 2016}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 ({124000}).",[615838],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:16019,Active,Orphanet+OMIM,OMIM:615841,Subtype of disorder,[Disease subtype],Spermatogenic failure 13,,,[615841],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:1602,Active,Orphanet,ORPHA:1225,Disorder,[Malformation syndrome],Baller-Gerold syndrome,,"Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).",[218600],,,,,Baller-Gerold syndrome,TRUE,FALSE,Active +GARD:16020,Active,Orphanet+OMIM,OMIM:615842,Subtype of disorder,[Disease subtype],Spermatogenic failure 14,,,[615842],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16021,Active,Orphanet+OMIM,OMIM:615846,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 7,,"Aicardi-Goutieres syndrome-7 (AGS7) is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1; {147660}) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by {5:Rice et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 ({225750}).",[615846],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:16022,Active,Orphanet+OMIM,OMIM:615860,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 19,,,[615860],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:16023,Active,Orphanet+OMIM,OMIM:615866,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 9,"[Mental retardation, autosomal dominant 27]","Coffin-Siris syndrome 9 is characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails ({1:Tsurusaki et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[615866],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16024,Active,Orphanet+OMIM,OMIM:615871,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 24,"[Epileptic encephalopathy, early infantile, 24]","Developmental and epileptic encephalopathy-24 (DEE24) is a neurologic disorder characterized by onset of refractory seizures in infancy, severely impaired global development, intellectual disability, and behavioral abnormalities. Most patients have onset of variable types of seizures between 4 and 13 months of age, but earlier onset in the first days of life has also been reported. Seizures are often triggered by fever, at least initially; status epilepticus may occur (summary by {3:Nava et al., 2014} and {2:Marini et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615871],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16025,Active,Orphanet+OMIM,OMIM:615872,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 29","[Ciliary dyskinesia, primary, 29, without situs inversus]","Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of recurrent respiratory infections due to defective mucociliary clearance. Patients do not have situs inversus (summary by {2:Wallmeier et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615872],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16026,Active,Orphanet+OMIM,OMIM:615883,Subtype of disorder,[Disease subtype],"Myopathy, tubular aggregate, 2",,,[615883],[2593],[Tubular aggregate myopathy],[3884],,,,, +GARD:16027,Active,Orphanet+OMIM,OMIM:615885,Subtype of disorder,[Disease subtype],Hypotrichosis 12,,,[615885],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:16028,Active,Orphanet+OMIM,OMIM:615887,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia5",,"Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({3:Witkop, 1989}).",[615887],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:16029,Active,Orphanet+OMIM,OMIM:615896,Subtype of disorder,[Disease subtype],Hypotrichosis 13,[Hypotrichosis with woolly hair],,[615896],[170],[Woolly hair],[5597],,,,, +GARD:16030,Active,Orphanet+OMIM,OMIM:615909,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 13,,,[615909],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16031,Active,Orphanet+OMIM,OMIM:615916,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1nn",,,[615916],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:16032,Active,Orphanet+OMIM,OMIM:615922,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 70,,,[615922],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16033,Active,Orphanet+OMIM,OMIM:615935,Subtype of disorder,[Morphological anomaly subtype],Pancreatic agenesis 2,"[Pancreatic hypoplasia, congenital 2]",,[615935],[2805],[Partial pancreatic agenesis],[4203],,,,, +GARD:16034,Active,Orphanet+OMIM,OMIM:615954,Subtype of disorder,[Disease subtype],Acth-independent macronodular adrenal hyperplasia 2,[Primary macronodular adrenal hyperplasia],"ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia ({2:Assie et al., 2013}).",[615954],[189427],[Cushing syndrome due to macronodular adrenal hyperplasia],[10824],,,,, +GARD:16035,Active,Orphanet+OMIM,OMIM:615959,Subtype of disorder,[Disease subtype],"Myopathy, centronuclear, 5",,"Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by {1:Agrawal et al., 2014}).\n\nFor a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 ({160150}).",[615959],[169186],[Autosomal recessive centronuclear myopathy],[12718],,,,, +GARD:16036,Active,Orphanet+OMIM,OMIM:615973,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 20,,,[615973],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:16037,Active,Orphanet+OMIM,OMIM:615990,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 13,,"BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa ({1:Leitch et al., 2008}; {2:Xing et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615990],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16038,Active,Orphanet+OMIM,OMIM:615991,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 14,,"BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease ({1:Leitch et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615991],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16039,Active,Orphanet+OMIM,OMIM:615992,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 15,,"BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene ({1:Kim et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615992],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16040,Active,Orphanet+OMIM,OMIM:615993,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 16,,"BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient ({1:Billingsley et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615993],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16041,Active,Orphanet+OMIM,OMIM:615994,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 17,,"Bardet-Biedl syndrome-17 (BBS17) is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17, mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation ({1:Deffert et al., 2007}; {3:Schaefer et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615994],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16042,Active,Orphanet+OMIM,OMIM:615995,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 18,,"BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability ({1:Scheidecker et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615995],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16043,Active,Orphanet+OMIM,OMIM:615996,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 19,,"Bardet-Biedl syndrome-19 (BBS19) is an autosomal recessive ciliopathy characterized by obesity, impaired intellectual development, polydactyly, renal failure, retinitis pigmentosa, and hypogonadism ({1:Aldahmesh et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615996],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16044,Active,Orphanet+OMIM,OMIM:616001,Subtype of disorder,[Morphological anomaly subtype],"Breasts and/or nipples, aplasia or hypoplasia of, 2",,"Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia ({305100}) or Poland syndrome ({173800}) (summary by {4:Papadimitriou et al., 2009}).\n\nFor a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see {113700}.",[616001],[180188],[Isolated congenital breast hypoplasia/aplasia],[9489],,,,, +GARD:16045,Active,Orphanet+OMIM,OMIM:616002,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 7,"[Glomerulosclerosis, focal segmental, 7]","Focal segmental glomerulosclerosis is a form of kidney injury defined by partial sclerosis of some but not all glomeruli. It is characterized clinically by significant proteinuria with or without features of nephrotic syndrome. Some patients develop end-stage renal disease (summary by {1:Barua et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[616002],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16046,Active,Orphanet+OMIM,OMIM:616005,Subtype of disorder,[Disease subtype],Immunodeficiency 36,,"IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma ({2:Elkaim et al., 2016}).",[616005],[397596],[Activated PI3K-delta syndrome],[11983],,,,, +GARD:16047,Active,Orphanet+OMIM,OMIM:616006,Subtype of disorder,[Malformation syndrome subtype],Hennekam lymphangiectasia-lymphedema syndrome 2,,"Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by {2:Alders et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 ({235510}).",[616006],[2136],[Hennekam syndrome],[3318],,,,, +GARD:16048,Active,Orphanet+OMIM,OMIM:616026,Subtype of disorder,[Clinical subtype],Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young,[Frts4 with mody],,[616026],[93111],[HNF1B-related autosomal dominant tubulointerstitial kidney disease],[10221],,,,, +GARD:16049,Active,Orphanet+OMIM,OMIM:616028,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 5,,"Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by {4:Stittrich et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[616028],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:1605,Active,Orphanet,ORPHA:1528,Disorder,[Malformation syndrome],Craniotelencephalic dysplasia,,"Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.",[218670],,,,,Craniotelencephalic dysplasia,TRUE,FALSE,Active +GARD:16050,Active,Orphanet+OMIM,OMIM:616030,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 22 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism is caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[616030],[478],[Kallmann syndrome],[10771],,,,, +GARD:16051,Active,Orphanet+OMIM,OMIM:616032,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 8,"[Glomerulosclerosis, focal segmental, 8]",,[616032],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16052,Active,Orphanet+OMIM,OMIM:616037,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 30","[Ciliary dyskinesia, primary, 30, with or without situs inversus]",,[616037],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16053,Active,Orphanet+OMIM,OMIM:616040,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant",,"Presynaptic congenital myasthenic syndrome-7A with distal motor neuropathy (CMS7A) is an autosomal dominant neuromuscular disorder characterized by onset of foot deformities, delayed motor development, and slowly progressive distal muscle weakness resulting in gait difficulties in early childhood. Other features may include hyporeflexia, muscle atrophy, and upper limb involvement. Electrophysiologic studies show low compound muscle action potentials (CMAPs), consistent with a distal hereditary motor neuropathy (dHMN), as well as a decremental response to repetitive stimulation, indicating presynaptic defects at the neuromuscular junction (NMJ), consistent with myasthenic syndrome (summary by {3:Fionda et al., 2021}). The complex phenotype of patients with dominant SYT2 mutations likely results from impairment of 2 fundamental functions of SYT2: (1) disturbance of calcium-dependent synchronous presynaptic neurotransmitter release, resulting in a myasthenic disorder, and (2) disruption of exocytosis and endocytosis, causing a degenerative process affecting peripheral motor nerve terminals and resulting in a motor neuropathy ({5:Maselli et al., 2021}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).\n\nFor a discussion of genetic heterogeneity of dHMN, see {182960}.",[616040],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16054,Active,Orphanet+OMIM,OMIM:616051,Subtype of disorder,[Etiological subtype],"Microcephaly 13, primary, autosomal recessive",,,[616051],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16055,Active,Orphanet+OMIM,OMIM:616059,Subtype of disorder,[Disease subtype],Mirror movements 3,,,[616059],[238722],[Familial congenital mirror movements],[12551],,,,, +GARD:16056,Active,Orphanet+OMIM,OMIM:616063,Subtype of disorder,[Disease subtype],"Porokeratosis 8, disseminated superficial actinic type",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shape, distribution, and clinical course ({2:Schamroth et al., 1997}). However, as noted by {3:Sybert (2010)}, the existence of several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[616063],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:16057,Active,Orphanet+OMIM,OMIM:616080,Subtype of disorder,[Etiological subtype],"Microcephaly 12, primary, autosomal recessive",,,[616080],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16058,Active,Orphanet+OMIM,OMIM:616081,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1c",[Hypomyelination with spinal muscular atrophy and cerebellar hypoplasia],"Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by {1:Boczonadi et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[616081],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:16059,Active,Orphanet+OMIM,OMIM:616106,Subtype of disorder,[Disease subtype],"Psoriasis 15, pustular, susceptibility to",,,[616106],[247353],[Generalized pustular psoriasis],[12819],,,,, +GARD:16060,Active,Orphanet+OMIM,OMIM:616111,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 9",,,[616111],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:16061,Active,Orphanet+OMIM,OMIM:616115,Subtype of disorder,[Disease subtype],Familial cold autoinflammatory syndrome 4,,,[616115],[47045],[Familial cold urticaria],[9535],,,,, +GARD:16062,Active,Orphanet+OMIM,OMIM:616138,Subtype of disorder,[Disease subtype],Perrault syndrome 5,,,[616138],[2855],[Perrault syndrome],[2542],,,,, +GARD:16063,Active,Orphanet+OMIM,OMIM:616139,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 27,"[Epileptic encephalopathy, early infantile, 27]","Developmental and epileptic encephalopathy-27 (DEE27) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity associated with early-onset seizures. Additional features may include hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by {2:Platzer et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616139],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:16064,Active,Orphanet+OMIM,OMIM:616151,Subtype of disorder,[Disease subtype],"Macular dystrophy, vitelliform, 4",,"Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {3:Manes et al., 2013}). Vitelliform macular dystrophy-4 is characterized by late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculography (EOG) ({4:Meunier et al., 2014}). In most families with VMD4 caused by compound heterozygous or homozygous mutations in IMPG1, asymptomatic heterozygous carriers have been found to have fundus changes ({3:Manes et al., 2013}; {1:Brandl et al., 2017}).\n\n{1:Brandl et al. (2017)} examined patients VMD4, caused by mutation in the IMPG1 gene, and VMD5 ({616152}), caused by mutation in the IMPG2 gene, and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above a preserved Bruch membrane/RPE on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in those with IMPG1 mutations.\n\nFor a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 ({153840}).",[616151],[99000],[Adult-onset foveomacular vitelliform dystrophy],[10909],,,,, +GARD:16065,Active,Orphanet+OMIM,OMIM:616152,Subtype of disorder,[Disease subtype],"Macular dystrophy, vitelliform, 5",,"Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {3:Manes et al., 2013}). Vitelliform macular dystrophy-5 (VMD5) is characterized by late-onset moderate visual impairment, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculopathy (EOG) ({4:Meunier et al., 2014}).\n\n{2:Brandl et al. (2017)} examined patients with IMPG2- and IMPG1 ({602870})-associated VMD (see VMD4; {616151}) and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above the seemingly preserved Bruch membrane/RPE seen on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in those with IMPG1 mutations.\n\nFor a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 ({153840}).",[616152],[99000],[Adult-onset foveomacular vitelliform dystrophy],[10909],,,,, +GARD:16066,Active,Orphanet+OMIM,OMIM:616165,Subtype of disorder,[Disease subtype],Nemaline myopathy 10,,"Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by {3:Yuen et al., 2014}). Patients with a stable and much milder disease course have been described ({2:Schatz et al., 2018}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800}).",[616165],"[171436, 171430]","[Severe congenital nemaline myopathy, Typical nemaline myopathy]","[12821, 12822]",,,,, +GARD:16067,Active,Orphanet+OMIM,OMIM:616166,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 9","[Aortic aneurysm, thoracic, with or without aortic dissection]",,[616166],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:16068,Active,Orphanet+OMIM,OMIM:616208,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia,,,[616208],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:16069,Active,Orphanet+OMIM,OMIM:616211,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 28,"[Epileptic encephalopathy, early infantile, 28]","Developmental and epileptic encephalopathy-28 (DEE28) is an autosomal recessive severe neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals have severe axial hypotonia and profoundly impaired psychomotor development. More severely affected patients have acquired microcephaly, poor or absent visual contact, and retinal degeneration; early death may occur (summary by {2:Mignot et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616211],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:1607,Legacy,GARD,,,,,,,,,,,,Crawfurd syndrome,TRUE,FALSE,Active +GARD:16070,Active,Orphanet+OMIM,OMIM:616220,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 9,"[Glomerulosclerosis, focal segmental, 9]",,[616220],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16071,Active,Orphanet+OMIM,OMIM:616221,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ih",,"Amelogenesis imperfecta type IH is characterized by hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored ({2:Wang et al., 2014} and {1:Poulter et al., 2014}).",[616221],"[100031, 100032]","[Hypoplastic amelogenesis imperfecta, Hypocalcified amelogenesis imperfecta]","[16931, 645]",,,,, +GARD:16072,Active,Orphanet+OMIM,OMIM:616229,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xvi","[Oi, type xvi]","Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae ({2:Keller et al., 2018}; {3:Lindahl et al., 2018}).",[616229],[216812],[Osteogenesis imperfecta type 3],[8695],,,,, +GARD:16073,Active,Orphanet+OMIM,OMIM:616247,Subtype of disorder,[Disease subtype],Long qt syndrome 14,,"LQT14 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block ({2:Crotti et al., 2013}).\n\nPatients with LQT14, LQT15 ({616249}), or LQT16 ({618782}), resulting from mutation in calmodulin genes CALM1, CALM2 ({114182}), or CALM3 ({114183}), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes ({1:Boczek et al., 2016}).",[616247],[101016],[Romano-Ward syndrome],[3284],,,,, +GARD:16074,Active,Orphanet+OMIM,OMIM:616249,Subtype of disorder,[Disease subtype],Long qt syndrome 15,,"LQT15 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block ({2:Crotti et al., 2013}).\n\nPatients with LQT14 ({616247}), LQT15, or LQT16 ({618782}), resulting from mutation in calmodulin genes CALM1 ({114180}), CALM2, or CALM3 ({114183}), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes ({1:Boczek et al., 2016}).",[616249],[101016],[Romano-Ward syndrome],[3284],,,,, +GARD:16075,Active,Orphanet,ORPHA:562528,Disorder,[Malformation syndrome],Congenital limbs-face contractures-hypotonia-developmental delay syndrome,[CLIFAHDD syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.",[616266],,,,,,,, +GARD:16076,Active,Orphanet+OMIM,OMIM:616270,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type if","[Amelogenesis imperfecta, hypoplastic type if]","Amelogenesis imperfecta type IF is characterized by hypoplastic enamel of the primary and secondary dentition. The teeth may appear rough and discolored, and the tooth enamel may be absent, pitted, or of varying thickness ({1:Poulter et al. (2014)}).",[616270],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:16077,Active,Orphanet+OMIM,OMIM:616294,Subtype of disorder,[Malformation syndrome subtype],Cole-carpenter syndrome 2,,"Cole-Carpenter syndrome-2 (CLCRP2) is a skeletal dysplasia associated with low bone mass or an osteogenesis imperfecta-like syndrome. It is characterized by bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features such as marked frontal bossing, midface hypoplasia, and micrognathia (summary by {3:Takeyari et al., 2018}).",[616294],[2050],[Cole-Carpenter syndrome],[1425],,,,, +GARD:16078,Active,Orphanet+OMIM,OMIM:616298,Subtype of disorder,[Malformation syndrome subtype],Singleton-merten syndrome 2,,"Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by {1:Jang et al., 2015}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 ({182250}).",[616298],[85191],[Singleton-Merten dysplasia],[122],,,,, +GARD:16079,Active,Orphanet+OMIM,OMIM:616300,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 13 with or without polydactyly,,,[616300],[474],[Jeune syndrome],[3049],,,,, +GARD:1608,Active,Orphanet,ORPHA:52503,Disorder,[Disease],X-linked creatine transporter deficiency,"[Creatine transporter deficiency, SLC6A8 deficiency]","X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.",[300352],,,,,X-linked creatine deficiency,TRUE,FALSE,Active +GARD:16080,Active,Orphanet+OMIM,OMIM:616304,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 17",,,[616304],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16081,Active,Orphanet+OMIM,OMIM:616307,Subtype of disorder,[Disease subtype],Senior-loken syndrome 8,,,[616307],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:16082,Active,Orphanet+OMIM,OMIM:616311,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 33","[Mental retardation, autosomal dominant 33]",,[616311],[2514],[Autosomal dominant primary microcephaly],[3605],,,,, +GARD:16083,Active,Orphanet+OMIM,OMIM:616314,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency",,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616314],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16084,Active,Orphanet+OMIM,OMIM:616321,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 3a, slow-channel",,"Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616321],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16085,Active,Orphanet+OMIM,OMIM:616322,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 3b, fast-channel",,"Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by {5:Sine et al., 2003} and {2:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616322],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16086,Active,Orphanet+OMIM,OMIM:616323,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency",,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616323],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16087,Active,Orphanet+OMIM,OMIM:616324,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 4b, fast-channel",,"Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by {4:Sine et al., 2003} and {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616324],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16088,Active,Orphanet+OMIM,OMIM:616325,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency",,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients may show a favorable response to amifampridine (summary by {2:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616325],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16089,Active,Orphanet+OMIM,OMIM:616326,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency","[Myasthenic syndrome, congenital, ie, formerly, cms ie, formerly]","Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by {4:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616326],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:1609,Active,Orphanet,ORPHA:504,Disorder,[Disease],Creeping myiasis,[Migratory myiasis],"A rare cutaneous myiasis characterized by infestation of humans by the larvae of horse or cattle bot flies. After penetration of the skin, horse bot fly larvae form tunnels in the lower layers of the epidermis, where they can migrate for up to several months, causing serpentine, erythematous lesions with intense pruritus. Cattle bot fly larvae penetrate deeper into the subcutaneous tissue, producing more painful, erythematous lesions, which usually resolve after several hours or days, when the larvae move on to infest another area.",,,,,,Creeping myiasis,TRUE,FALSE,Active +GARD:16090,Active,Orphanet+OMIM,OMIM:616329,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 13","[Mody, type 13]",,[616329],[552],[MODY],[3697],,,,, +GARD:16091,Active,Orphanet+OMIM,OMIM:616330,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 18","[Myasthenic syndrome, congenital, 18, with intellectual disability and ataxia]","Congenital myasthenic syndrome-18 is an autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia (summary by {1:Shen et al., 2014}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616330],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16092,Active,Orphanet+OMIM,OMIM:616339,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 29,"[Epileptic encephalopathy, early infantile, 29]","Developmental and epileptic encephalopathy-29 (DEE29) is an autosomal recessive neurologic disorder characterized by the onset of refractory myoclonic seizures in the first months of life. Affected individuals have poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation (summary by {2:Simons et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616339],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16093,Active,Orphanet+OMIM,OMIM:616341,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 30,"[Epileptic encephalopathy, early infantile, 30]","Developmental and epileptic encephalopathy-30 (DEE30) is a severe neurologic disorder characterized by onset of refractory seizures soon after birth or in the first months of life. Seizure types include early myoclonic encephalopathy (EME), Ohtahara syndrome, and infantile spasms; most are refractory to treatment. Patients with earlier seizure onset make essentially no developmental progress and may die in infancy. Those with later onset show profoundly impaired global development with absent speech, poor eye contact, inability to walk, behavioral abnormalities, and feeding difficulties that may require a feeding tube (summary by {1:Hansen et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616341],"[1935, 1934, 3451]","[Early infantile epileptic encephalopathy, Infantile spasms syndrome, Early myoclonic encephalopathy]","[16581, 7887, 9255]",,,,, +GARD:16094,Active,Orphanet+OMIM,OMIM:616346,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 31,"[Epileptic encephalopathy, early infantile, 31]","Developmental and epileptic encephalopathy-31 (DEE31) is a neurologic disorder characterized by the global developmental delay apparent in early infancy. Most individuals have onset of various types of refractory seizures in the first months or years of life, which exacerbates the psychomotor deficits. Patients have hypotonia and profound intellectual disability with absent speech and inability to walk or ataxic gait. Some patients may have additional syndromic features, including dysmorphic features or cortical visual impairment (summary by the {3:EuroEPINOMICS-RES Consortium et al., 2014} and {2:Deciphering Developmental Disorders Study, 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616346],"[2382, 442835]","[Non-specific early-onset epileptic encephalopathy, Lennox-Gastaut syndrome]","[15028, 9912]",,,,, +GARD:16095,Active,Orphanet+OMIM,OMIM:616353,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 6",,"Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by {2:Tummala et al., 2015}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[616353],"[1775, 3322]","[Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome]","[10905, 346]",,,,, +GARD:16096,Active,Orphanet+OMIM,OMIM:616366,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 32,"[Epileptic encephalopathy, early infantile, 32]","Developmental and epileptic encephalopathy-32 (DEE32) is a neurologic disorder characterized by the onset of various seizure types, including febrile and myoclonic seizures, between about 5 and 17 months of age after normal early development. Thereafter, patients manifest global developmental delay or developmental regression with impaired intellectual development and poor or absent speech. Some may be able to attend special schools. Other features include ataxia with difficulty walking, deficient fine motor skills, tremor, and dysarthria. The seizures are initially refractory in some cases, but may remit later during childhood; however, neurologic deficits persist (summary by {2:Syrbe et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616366],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16097,Active,Orphanet+OMIM,OMIM:616371,Subtype of disorder,[Disease subtype],"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4",,,[616371],[2032],[Idiopathic pulmonary fibrosis],[8609],,,,, +GARD:16098,Active,Orphanet+OMIM,OMIM:616373,Subtype of disorder,[Disease subtype],"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3",,,[616373],[2032],[Idiopathic pulmonary fibrosis],[8609],,,,, +GARD:16099,Active,Orphanet+OMIM,OMIM:616389,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1g",,,[616389],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:161,Legacy,GARD,,,,,,,,,,,,Saul Wilkes Stevenson syndrome,TRUE,FALSE,Active +GARD:1610,Legacy,GARD,,,,,,,,,,,,Cretinism athyreotic,TRUE,FALSE,Active +GARD:16100,Active,Orphanet+OMIM,OMIM:616390,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 2, photosensitive",,"Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by {1:Faghri et al., 2008}).\n\nFor a discussion of genetic heterogeneity of TTD, see {601675}.",[616390],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:16101,Active,Orphanet+OMIM,OMIM:616394,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 71,,,[616394],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16102,Active,Orphanet+OMIM,OMIM:616395,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 3, photosensitive","[Trichothiodystrophy, complementation group a]","Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by {1:Faghri et al., 2008}).\n\nFor a discussion of genetic heterogeneity of TTD, see {601675}.",[616395],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:16103,Active,Orphanet+OMIM,OMIM:616398,Subtype of disorder,[Disease subtype],"Dystonia 26, myoclonic",,"Myoclonic dystonia-26 (DYT26) is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. The disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. Dystonia dominates the clinical picture (summary by {1:Mencacci et al., 2015}).",[616398],[36899],[Myoclonus-dystonia syndrome],[7139],,,,, +GARD:16104,Active,Orphanet+OMIM,OMIM:616399,Subtype of disorder,[Disease subtype],Brugada syndrome 9,,"Brugada syndrome is characterized by ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[616399],[130],[Brugada syndrome],[1030],,,,, +GARD:16105,Active,Orphanet+OMIM,OMIM:616402,Subtype of disorder,[Etiological subtype],"Microcephaly 14, primary, autosomal recessive",,,[616402],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16106,Active,Orphanet+OMIM,OMIM:616409,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 33,"[Epileptic encephalopathy, early infantile, 33]","Developmental and epileptic encephalopathy-33 (DEE33) is a neurologic disorder characterized by the onset of various types of seizures in the first months of life. Affected individuals show severe global developmental delay with impaired intellectual development and poor or absent speech (summary by {1:de Ligt et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616409],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16107,Active,Orphanet+OMIM,OMIM:616413,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, 6",,"Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by {3:Legati et al., 2015}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600}).",[616413],[1980],[Bilateral striopallidodentate calcinosis],[6406],,,,, +GARD:16108,Active,Orphanet+OMIM,OMIM:616421,Subtype of disorder,[Disease subtype],Myoclonic-atonic epilepsy,,"Myoclonic-atonic epilepsy (MAE) is an autosomal dominant disorder characterized by onset of absence and myoclonic seizures in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of impaired intellectual development following seizure onset (summary by {1:Carvill et al., 2015}).",[616421],[1942],[Myoclonic-astatic epilepsy],[2169],,,,, +GARD:16109,Active,Orphanet+OMIM,OMIM:616425,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 10",,"46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see {163950}) (summary by {5:Mann et al., 1983}).\n\nFor a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 ({400044}).",[616425],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,,,, +GARD:1611,Active,Orphanet,ORPHA:1545,Disorder,[Malformation syndrome],Crisponi syndrome,,"Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.",,,,,,Cold-induced sweating syndrome,TRUE,FALSE,Active +GARD:16110,Active,Orphanet+OMIM,OMIM:616428,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 10",,,[616428],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:16111,Active,Orphanet+OMIM,OMIM:616435,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group t",,"Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by {1:Hira et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Fanconi anemia, see FANCA ({227650}).",[616435],[84],[Fanconi anemia],[6425],,,,, +GARD:16112,Active,Orphanet+OMIM,OMIM:616436,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 7",,"Familial temporal lobe epilepsy-7 is a form of autosomal dominant lateral temporal lobe epilepsy characterized by focal seizures with prominent auditory symptoms (summary by {1:Dazzo et al., 2015}).\n\nFor a general description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see {600512}.",[616436],[101046],[Autosomal dominant epilepsy with auditory features],[2257],,,,, +GARD:16113,Active,Orphanet+OMIM,OMIM:616437,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 3,,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by {5:Rea et al., 2014}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[616437],"[275864, 275872, 803]","[Behavioral variant of frontotemporal dementia, Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[7392, 17273, 5786]",,,,, +GARD:16114,Active,Orphanet+OMIM,OMIM:616445,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 9",,,[616445],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:16115,Active,Orphanet+OMIM,OMIM:616455,Subtype of disorder,[Malformation syndrome subtype],Zimmermann-laband syndrome 2,,,[616455],[3473],[Zimmermann-Laband syndrome],[385],,,,, +GARD:16116,Active,Orphanet+OMIM,OMIM:616461,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 8",,,[616461],[101046],[Autosomal dominant epilepsy with auditory features],[2257],,,,, +GARD:16117,Active,Orphanet+OMIM,OMIM:616462,Subtype of disorder,[Malformation syndrome subtype],"Acrofacial dysostosis, cincinnati type",,"The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects ({1:Weaver et al., 2015}).",[616462],[1200],[Burn-McKeown syndrome],[10041],,,,, +GARD:16118,Active,Orphanet+OMIM,OMIM:616468,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 6,,,[616468],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:16119,Active,Orphanet+OMIM,OMIM:616469,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 72,,,[616469],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16120,Active,Orphanet+OMIM,OMIM:616470,Subtype of disorder,[Disease subtype],Ullrich congenital muscular dystrophy 2,,,[616470],[75840],"[Congenital muscular dystrophy, Ullrich type]",[4769],,,,, +GARD:16121,Active,Orphanet+OMIM,OMIM:616471,Subtype of disorder,[Disease subtype],Bethlem myopathy 2,"[Ehlers-danlos syndrome, myopathic type, eds, myopathic type]",,[616471],[610],[Bethlem myopathy],[873],,,,, +GARD:16122,Active,Orphanet+OMIM,OMIM:616481,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 32","[Ciliary dyskinesia, primary, 32, without situs inversus]","Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by {1:Jeanson et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[616481],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16123,Active,Orphanet+OMIM,OMIM:616486,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities","[Microcephaly 15, primary, autosomal recessive]","Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) is an autosomal recessive disorder characterized by a spectrum of neurologic abnormalities apparent from early infancy. Affected individuals have impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death (summary by {3:Harel et al., 2018}).",[616486],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16124,Active,Orphanet+OMIM,OMIM:616490,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 23,,"Joubert syndrome-23 is an autosomal recessive neurodevelopmental disorder characterized by delayed development, abnormal eye movements, and abnormal breathing pattern associated with a characteristic hindbrain malformation apparent on brain imaging and known as the 'molar tooth sign.' Compared to other forms of Joubert syndrome, the phenotype is relatively mild, and other organ systems are generally not affected (summary by {1:Bachmann-Gagescu et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[616490],[475],[Joubert syndrome],[6802],,,,, +GARD:16125,Active,Orphanet+OMIM,OMIM:616502,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 21,[Retinal dystrophy with early macular involvement],,[616502],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:16126,Active,Orphanet+OMIM,OMIM:616507,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xvii",,,[616507],[216820],[Osteogenesis imperfecta type 4],[8696],,,,, +GARD:16127,Active,Orphanet+OMIM,OMIM:616509,Subtype of disorder,[Clinical subtype],Cataract 44,[Cataract 44 and hypotrichosis],,[616509],[98994],[Total early-onset cataract],[1159],,,,, +GARD:16128,Active,Orphanet+OMIM,OMIM:616511,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 14",,,[616511],[552],[MODY],[3697],,,,, +GARD:16129,Active,Orphanet+OMIM,OMIM:616517,Subtype of disorder,[Disease subtype],Achromatopsia 7,,"Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by {2:Kohl et al., 2015}).\n\nFor a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 ({216900}).",[616517],[49382],[Achromatopsia],[15015],,,,, +GARD:1613,Active,Orphanet,ORPHA:891,Disorder,[Disease],Familial exudative vitreoretinopathy,"[Criswick-Schepens syndrome, FEVR]","Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.","[305390, 613310, 616468, 605750, 617572, 601813, 133780]",,,,,Familial exudative vitreoretinopathy,TRUE,FALSE,Active +GARD:16130,Active,Orphanet+OMIM,OMIM:616531,Subtype of disorder,[Clinical subtype],"Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities","[Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis]","Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) is a severe autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, axial hypotonia, and peripheral spasticity and hyperreflexia. Affected individuals may have feeding difficulties with gastroesophageal reflux and poor overall growth, as well as microcephaly and nonspecific dysmorphic facial features. Additional features may include nystagmus, inability to walk, ataxia, abnormal movements, and seizures. Brain imaging shows hypomyelination with decreased white matter volume, cerebral and cerebellar atrophy, and thin corpus callosum. Polymicrogyria may be observed in rare cases. Some patients have a primary immunodeficiency or gastrointestinal disturbances similar to inflammatory bowel disease (summary by {3:Verdura et al., 2021}, {2:Salter et al., 2021}).",[616531],[98889],[Bilateral perisylvian polymicrogyria],[6011],,,,, +GARD:16131,Active,Orphanet+OMIM,OMIM:616532,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7","[Herpes simplex encephalitis, susceptibility to, 5]",,[616532],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:16132,Active,Orphanet+OMIM,OMIM:616534,Subtype of disorder,[Disease subtype],"Thyroid cancer, nonmedullary, 4",,"Nonmedullary thyroid cancer (NMTC) refers to neoplasms originating from the thyroid follicular cells and represents 80 to 95% of all thyroid cancers. Approximately 5% of NMTC occurs on the background of a familial predisposition. Although papillary thyroid carcinoma (PTC) is usually the most frequent thyroid lesion in NMTC families, multinodular goiter (MNG) and follicular thyroid adenoma also occur (summary by {3:Pereira et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550}).",[616534],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:16133,Active,Orphanet+OMIM,OMIM:616535,Subtype of disorder,[Disease subtype],"Thyroid cancer, nonmedullary, 5",,"Nonmedullary thyroid cancer (NMTC) comprises cancer of follicular cell origin and accounts for more than 95% of all cases of thyroid cancer. Familial NMTC accounts for 3 to 9% of all cases of thyroid cancer and has an autosomal dominant mode of inheritance. Most cases of familial NMTC are papillary thyroid cancer (PTC), which is the most common type of thyroid cancer (summary by {1:Gara et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550}).",[616535],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:16134,Active,Orphanet+OMIM,OMIM:616538,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9","[Walker-warburg syndrome or muscle-eye brain disease, dag1-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by {1:Geis et al., 2013} and {3:Riemersma et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[616538],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:16135,Active,Orphanet+OMIM,OMIM:616544,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 73,,,[616544],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16136,Active,Orphanet+OMIM,OMIM:616553,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal dominant 6",,"Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by {2:Kocak et al., 2014}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[616553],"[397692, 3322]","[Hoyeraal-Hreidarsson syndrome, Hereditary isolated aplastic anemia]","[17635, 346]",,,,, +GARD:16137,Active,Orphanet+OMIM,OMIM:616559,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 9,,"Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by {1:Yamamoto et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[616559],[648],[Noonan syndrome],[10955],,,,, +GARD:16138,Active,Orphanet+OMIM,OMIM:616562,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 74,,,[616562],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16139,Active,Orphanet+OMIM,OMIM:616564,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 10,,"Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by {2:Yamamoto et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[616564],[648],[Noonan syndrome],[10955],,,,, +GARD:1614,Active,Orphanet,ORPHA:1380,Disorder,[Malformation syndrome],Cataract-nephropathy-encephalopathy syndrome,[Crome syndrome],"A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.",[218900],,,,,Crome syndrome,TRUE,FALSE,Active +GARD:16140,Active,Orphanet+OMIM,OMIM:616570,Subtype of disorder,[Clinical subtype],Cerebrooculofacioskeletal syndrome 3,,"Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by {1:Drury et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 ({214150}).",[616570],[1466],[COFS syndrome],[6027],,,,, +GARD:16141,Active,Orphanet+OMIM,OMIM:616576,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 12, with autoimmunity",[Nfkb1 deficiency],"Common variable immunodeficiency-12 with autoimmunity (CVID12) is an autosomal dominant complex immunologic disorder with multisystem involvement. CVID12 is mainly a primary immunodeficiency characterized by recurrent infections and associated with hypogammaglobulinemia. Notably, about half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. A smaller percentage of affected individuals (less than 20%) develop cancer, most commonly solid tumors, including lymphoma. Age at onset and disease severity are highly variable, even within the same family. There is also incomplete penetrance, such that mutation carriers may be asymptomatic, even if they have hypogammaglobulinemia. The gene involved, NFKB1, encodes a transcription factor that regulates the expression of target genes involved in the immune system, thus defining the phenotype as a disorder of immune dysregulation (summary by {2:Fliegauf et al., 2015}; {3:Lorenzini et al., 2020}).\n\nFor a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 ({607594}).",[616576],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:16142,Active,Orphanet+OMIM,OMIM:616589,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 6,,"Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by {2:Stittrich et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[616589],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:16143,Active,Orphanet+OMIM,OMIM:616603,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal dominant 3",,"Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes ({1:Fischer-Zirnsak et al., 2015}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 ({123700}).",[616603],[90348],[Autosomal dominant cutis laxa],[1639],,,,, +GARD:16144,Active,Orphanet+OMIM,OMIM:616617,Subtype of disorder,[Malformation syndrome subtype],Heimler syndrome 2,[Peroxisome biogenesis disorder 4c],"Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, {214100}), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities ({2:Ratbi et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Heimler syndrome, see HMLR1 ({234580}).",[616617],[3220],[Deafness-enamel hypoplasia-nail defects syndrome],[1687],,,,, +GARD:16145,Active,Orphanet+OMIM,OMIM:616629,Subtype of disorder,[Disease subtype],Senior-loken syndrome 9,,"Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by {2:Bizet et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see {266900}.",[616629],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:16146,Active,Orphanet+OMIM,OMIM:616631,Subtype of disorder,[Disease subtype],"Porokeratosis 9, multiple types",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({1:Schamroth et al., 1997}). However, as noted by {2:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the FDPS gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP) and nonactinic disseminated superficial porokeratosis (DSP).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {174800}.",[616631],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:16147,Active,Orphanet+OMIM,OMIM:616645,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 34,"[Epileptic encephalopathy, early infantile, 34]","Developmental and epileptic encephalopathy-34 (DEE34) is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in the first year of life after normal early development. Affected children show developmental regression and are severely impaired globally (summary by {1:Stodberg et al., 2015}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[616645],[293181],[Malignant migrating focal seizures of infancy],[12919],,,,, +GARD:16148,Active,Orphanet+OMIM,OMIM:616648,Subtype of disorder,[Disease subtype],Optic atrophy 8,,"Optic atrophy-8 (OPA8) is an autosomal dominant neurologic disorder characterized by progressive visual loss during the first or second decade of life. Some patients may have additional features, mainly late-onset sensorineural hearing loss.\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[616648],[1215],[Autosomal dominant optic atrophy plus syndrome],[5243],,,,, +GARD:16149,Active,Orphanet+OMIM,OMIM:616649,Subtype of disorder,[Disease subtype],"Spherocytosis, type 2","[Spherocytosis, hereditary, 2]","Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by {6:Perrotta et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of hereditary spherocytosis, see {182900}.",[616649],[822],[Hereditary spherocytosis],[6639],,,,, +GARD:16150,Active,Orphanet+OMIM,OMIM:616654,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 24,,"Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by {2:Huppke et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[616654],[475],[Joubert syndrome],[6802],,,,, +GARD:16151,Active,Orphanet+OMIM,OMIM:616681,Subtype of disorder,[Etiological subtype],"Microcephaly 16, primary, autosomal recessive",,,[616681],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16152,Active,Orphanet+OMIM,OMIM:616689,Subtype of disorder,[Disease subtype],Dehydrated hereditary stomatocytosis 2,"[Xerocytosis gardos, desiccytosis gardos]","In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by {7:Rapetti-Mauss et al., 2015}).\n\nFor discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 ({194380}).",[616689],[3202],[Dehydrated hereditary stomatocytosis],[5623],,,,, +GARD:16153,Active,Orphanet+OMIM,OMIM:616720,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 19",,"Congenital myasthenic syndrome-19 (CMS19) is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by {4:Logan et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616720],"[98913, 98914]","[Presynaptic congenital myasthenic syndromes, Postsynaptic congenital myasthenic syndromes]","[15022, 15023]",,,,, +GARD:16154,Active,Orphanet+OMIM,OMIM:616726,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 33","[Ciliary dyskinesia, primary, 33, without situs inversus]","Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by {2:Olbrich et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[616726],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16155,Active,Orphanet+OMIM,OMIM:616730,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 11",,"Nephrotic syndrome type 11 (NPHS11) is an autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype ({3:Miyake et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[616730],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16156,Active,Orphanet+OMIM,OMIM:616734,Subtype of disorder,[Disease subtype],"Skin creases, congenital symmetric circumferential, 2",,"Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by {1:Isrie et al., 2015}).\n\nFor a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 ({156610}).",[616734],[2505],[Multiple benign circumferential skin creases on limbs],[3589],,,,, +GARD:16157,Active,Orphanet+OMIM,OMIM:616760,Subtype of disorder,[Disease subtype],"Woolly hair, autosomal recessive 3","[Woolly hair, autosomal recessive 3, with hypotrichosis]",,[616760],[170],[Woolly hair],[5597],,,,, +GARD:16158,Active,Orphanet+OMIM,OMIM:616777,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 9,,,[616777],[808],[Seckel syndrome],[8562],,,,, +GARD:16159,Active,Orphanet+OMIM,OMIM:616781,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 25,,"Joubert syndrome-25 is an autosomal recessive ciliopathy characterized by delayed psychomotor development and oculomotor apraxia associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. The clinical manifestations appear to be confined to the neurologic system, as patients tend not to have additional renal, liver, or limb involvement (summary by {1:Srour et al., 2015})\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[616781],[475],[Joubert syndrome],[6802],,,,, +GARD:1616,Legacy,GARD,,,,,,,,,,,,Crossed polydactyly type 1,TRUE,FALSE,Active +GARD:16160,Active,Orphanet+OMIM,OMIM:616784,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 26,,"Joubert syndrome-26 (JBTS26) is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by {2:Sanders et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[616784],[475],[Joubert syndrome],[6802],,,,, +GARD:16161,Active,Orphanet+OMIM,OMIM:616792,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 7",,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700}).",[616792],[635],[Neuroblastoma],[7185],,,,, +GARD:16162,Active,Orphanet+OMIM,OMIM:616806,Subtype of disorder,[Disease subtype],Wilms tumor 6,,"Wilms tumor is the most common renal tumor of childhood, occurring with an incidence of 1 in 10,000. It is often described as an embryonal tumor, as it arises from embryonal cells in which growth and/or differentiation have become dysregulated during development (summary by {1:Mahamdallie et al., 2015}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Wilms tumor, see WT1 ({194070}).",[616806],[654],[Nephroblastoma],[7892],,,,, +GARD:16163,Active,Orphanet+OMIM,OMIM:616835,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 6,,,[616835],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:16164,Active,Orphanet+OMIM,OMIM:616849,Subtype of disorder,[Malformation syndrome subtype],"Brachydactyly, type a1, d",,,[616849],[93388],[Brachydactyly type A1],[978],,,,, +GARD:16165,Active,Orphanet+OMIM,OMIM:616882,Subtype of disorder,[Disease subtype],"Advanced sleep phase syndrome, familial, 3",,"Advanced sleep phase syndrome is characterized by early sleep time (sleep onset) and early morning awakening (sleep offset) (summary by {1:Zhang et al., 2016}).\n\nFor a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 ({604348}).",[616882],[164736],[Familial advanced sleep-phase syndrome],[9242],,,,, +GARD:16166,Active,Orphanet+OMIM,OMIM:616892,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 12",,"Nephrotic syndrome type 12 is an autosomal recessive renal disorder caused by defects in the renal glomerular filter. Affected individuals have onset of progressive renal failure in the first years of life. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) (summary by {1:Braun et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[616892],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16167,Active,Orphanet+OMIM,OMIM:616893,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 13",,"Nephrotic syndrome type 13 is a steroid-resistant form of nephrotic syndrome with focal segmental glomerulosclerosis ({1:Braun et al., 2016}).",[616893],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16168,Active,Orphanet+OMIM,OMIM:616910,Subtype of disorder,[Malformation syndrome subtype],Immunodeficiency-centromeric instability-facial anomalies syndrome 3,,"Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by {3:Thijssen et al., 2015}).\n\nFor a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 ({242860}).",[616910],[2268],[ICF syndrome],[2945],,,,, +GARD:16169,Active,Orphanet+OMIM,OMIM:616911,Subtype of disorder,[Malformation syndrome subtype],Immunodeficiency-centromeric instability-facial anomalies syndrome 4,,"Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by {1:Thijssen et al., 2015}).\n\nFor a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 ({242860}).",[616911],[2268],[ICF syndrome],[2945],,,,, +GARD:1617,Active,Orphanet,ORPHA:2935,Disorder,[Malformation syndrome],Crossed polysyndactyly,,"A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands.",[175690],,,,,Crossed polysyndactyly,TRUE,FALSE,Active +GARD:16170,Active,Orphanet+OMIM,OMIM:616938,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 5,,"Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by {3:Wieczorek et al., 2013}). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by {1:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[616938],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16171,Active,Orphanet+OMIM,OMIM:616941,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 8a, autosomal dominant","[agammaglobulinemia, autosomal dominant, due to tcf3 defect, Agm8]",,[616941],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:16172,Active,Orphanet+OMIM,OMIM:616943,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 6, nonphotosensitive",,,[616943],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:16173,Active,Orphanet+OMIM,OMIM:616950,Subtype of disorder,[Disease subtype],Spermatogenic failure 15,,,[616950],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16174,Active,Orphanet+OMIM,OMIM:617004,Subtype of disorder,[Malformation syndrome subtype],Polycystic liver disease 2 with or without kidney cysts,,"PCLD2 is an autosomal dominant disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development. Abnormal biliary structures may be present early in life, but they usually remain asymptomatic until cyst growth initiates during adulthood. In advanced stages, patients may develop massively enlarged livers, which cause a spectrum of clinical features and complications. Genetic studies suggest that an accumulation of somatic hits in cyst epithelium determines the rate of cyst formation. A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by {1:Cnossen and Drenth, 2014}).\n\nFor a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 ({174050}).",[617004],[2924],[Isolated polycystic liver disease],[9457],,,,, +GARD:16175,Active,Orphanet+OMIM,OMIM:617020,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 38,"[epileptic encephalopathy, early infantile, 38, Glycosylphosphatidylinositol biosynthesis defect 23]","Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur. The disorder is associated with a defect in GPI-anchoring of membrane-bound proteins (summary by {3:Palmer et al., 2016}; {2:Davids et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[617020],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16176,Active,Orphanet+OMIM,OMIM:617023,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 75,,,[617023],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16177,Active,Orphanet+OMIM,OMIM:617024,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1h",,"Congenital stationary night blindness type 1H (CSNB1H) is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia ({1:Vincent et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A ({310500}).",[617024],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:16178,Active,Orphanet+OMIM,OMIM:617026,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2f",,"Pontocerebellar hypoplasia type 2F is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by {2:Breuss et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A ({277470}).",[617026],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:16180,Active,Orphanet+OMIM,OMIM:617050,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 10,,"Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by {1:Ammann et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300}).",[617050],[183678],[Hermansky-Pudlak syndrome due to AP-3 deficiency],[15026],,,,, +GARD:16181,Active,Orphanet+OMIM,OMIM:617063,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 7,,,[617063],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:16182,Active,Orphanet+OMIM,OMIM:617065,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 40,"[Epileptic encephalopathy, early infantile, 40]","Developmental and epileptic encephalopathy-40 (DEE40) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms within the first 6 months of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding, axial hypotonia with peripheral spasticity, limited eye contact, profoundly impaired intellectual development with absent language, and poor fine motor skills (summary by {1:Alfaiz et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617065],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:16183,Active,Orphanet+OMIM,OMIM:617069,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3","[Progressive external ophthalmoplegia, autosomal recessive 3]",,[617069],[254886],[Autosomal recessive progressive external ophthalmoplegia],[1191],,,,, +GARD:16184,Active,Orphanet+OMIM,OMIM:617075,Subtype of disorder,[Disease subtype],"Nasopharyngeal carcinoma, susceptibility to, 3",,"Nasopharyngeal carcinoma (NPCA) is a malignant tumor that emerges from the epithelium of the nasopharynx. It has a high incidence in southern China, and evidence suggests that there may be a genetic component that underlies familial clustering. Some patients have onset before 20 years of age (summary by {1:Dai et al., 2016})\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 ({607107}).",[617075],[150],[Nasopharyngeal carcinoma],[7163],,,,, +GARD:16185,Active,Orphanet+OMIM,OMIM:617088,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 15 with polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {4:Huber and Cormier-Daire, 2012} and {7:Schmidts et al., 2013}). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nSRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500}).",[617088],"[474, 289]","[Jeune syndrome, Ellis Van Creveld syndrome]","[1301, 3049]",,,,, +GARD:16186,Active,Orphanet+OMIM,OMIM:617090,Subtype of disorder,[Etiological subtype],"Microcephaly 17, primary, autosomal recessive",,"Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by {3:Harding et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[617090],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16187,Active,Orphanet+OMIM,OMIM:617091,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 34","[Ciliary dyskinesia, primary, 34, without situs inversus]","Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by {1:El Khouri et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[617091],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16188,Active,Orphanet+OMIM,OMIM:617092,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 35","[Ciliary dyskinesia, primary, 35, with or without situs inversus]","Primary ciliary dyskinesia-35 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by {1:Wallmeier et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[617092],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16189,Active,Orphanet+OMIM,OMIM:617102,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 16 with or without polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {4:Huber and Cormier-Daire, 2012} and {5:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500}).",[617102],[1515],[Cranioectodermal dysplasia],[359],,,,, +GARD:16190,Active,Orphanet+OMIM,OMIM:617105,Subtype of disorder,"[Clinical syndrome subtype, Disease subtype]",Developmental and epileptic encephalopathy 41,"[Epileptic encephalopathy, early infantile, 41]","Developmental and epileptic encephalopathy-41 (DEE41) is a neurologic disorder characterized by the onset of seizures in the first days or weeks of life. Affected infants show severely impaired psychomotor development with hypotonia, spasticity, lack of speech, poor visual fixation, feeding difficulties sometimes necessitating tube feeding, poor overall growth and microcephaly, and contractures. Brain imaging may show delayed myelination, thin corpus callosum, and cerebral atrophy (summary by the {2:EPI4K Consortium, 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617105],"[1935, 442835]","[Non-specific early-onset epileptic encephalopathy, Early myoclonic encephalopathy]","[15028, 16581]",,,,, +GARD:16191,Active,Orphanet+OMIM,OMIM:617106,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 42,"[Epileptic encephalopathy, early infantile, 42]","Developmental and epileptic encephalopathy-42 (DEE42) is a neurologic disorder characterized by the onset of various types of seizures in the first hours or days of life, although rare patients may have onset in the first weeks of life. The seizures tend to be refractory and associated with EEG abnormalities, including multifocal spikes and generalized spike-wave complexes. Affected infants show global developmental delay with severely impaired intellectual development. Other features may include axial hypotonia, peripheral hypertonia with hyperreflexia, tremor, ataxia, and abnormal eye movements (summary by the {2:Epi4K Consortium, 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617106],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16192,Active,Orphanet+OMIM,OMIM:617113,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 43,"[Epileptic encephalopathy, early infantile, 43]","Developmental and epileptic encephalopathy-43 (DEE43) is a neurologic disorder characterized by the onset of various types of seizures usually in the first year of life. The age at onset is highly variable, ranging from the neonatal period to about 12 months of age. Later onset may rarely occur. Seizure types include febrile, infantile spasms, focal, tonic-clonic, and myoclonic; they tend to be refractory to treatment. Affected individuals show global developmental delay with mild to moderate intellectual disability, although some may have normal early development before the onset of seizures. EEG shows focal, multifocal, or generalized sharp waves associated with seizures, sometimes with hypsarrhythmia. Additional more variable features include tube feeding, hypotonia, peripheral hypertonia, ataxia, dyskinesia, and behavioral difficulties, including aggression, ADHD, stereotypic, and impulsive behavior (summary by the {2:Epi4K Consortium, 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617113],[2382],[Lennox-Gastaut syndrome],[9912],,,,, +GARD:16193,Active,Orphanet+OMIM,OMIM:617119,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 22,"[Bardet-biedl syndrome 20, formerly]","Bardet-Biedl syndrome-22 (BBS22) is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability ({2:Lindstrand et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[617119],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16194,Active,Orphanet+OMIM,OMIM:617120,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 27,,,[617120],[475],[Joubert syndrome],[6802],,,,, +GARD:16195,Active,Orphanet+OMIM,OMIM:617121,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 28,,,[617121],"[475, 220493]","[Joubert syndrome, Joubert syndrome with ocular defect]","[10168, 6802]",,,,, +GARD:16196,Active,Orphanet+OMIM,OMIM:617123,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 76,,,[617123],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16197,Active,Orphanet+OMIM,OMIM:617127,Subtype of disorder,[Malformation syndrome subtype],Orofaciodigital syndrome xv,"[oral-facial-digital syndrome, type xv, Ofds xv]",,[617127],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:16198,Active,Orphanet+OMIM,OMIM:617132,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 44,"[Epileptic encephalopathy, early infantile, 44]","Developmental and epileptic encephalopathy-44 (DEE44) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms or myoclonus usually in the first weeks or months of life, up to about 12 months of age. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG in some patients shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding and poor overall growth with microcephaly, axial hypotonia with peripheral hypertonia or spasticity, abnormal movements, limited eye contact, and profoundly impaired intellectual development with absent language. Many patients require tube feeding, and some die in childhood (summary by {2:Muona et al., 2016}; {1:Colin et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617132],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16199,Active,Orphanet+OMIM,OMIM:617137,Subtype of disorder,[Disease subtype],Frontometaphyseal dysplasia 2,,"Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by {4:Wade et al., 2016}).\n\nFor a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 ({305620}).",[617137],[1826],[Frontometaphyseal dysplasia],[826],,,,, +GARD:162,Active,Orphanet,ORPHA:2013,Disorder,[Malformation syndrome],Cleft palate-large ears-small head syndrome,[Say-Barber-Hobbs syndrome],"Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.",[181180],,,,,Say syndrome,TRUE,FALSE,Active +GARD:1620,Active,Orphanet,ORPHA:1302,Disorder,[Disease],Cryptogenic organizing pneumonia,"[BOOP, Bronchiolitis obliterans organizing pneumonia, COP]","Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.",,,,,,Cryptogenic organizing pneumonia,TRUE,FALSE,Active +GARD:16200,Active,Orphanet+OMIM,OMIM:617141,Subtype of disorder,[Morphological anomaly subtype],Aniridia 2,,,[617141],[250923],[Isolated aniridia],[5816],,,,, +GARD:16201,Active,Orphanet+OMIM,OMIM:617142,Subtype of disorder,[Morphological anomaly subtype],Aniridia 3,,,[617142],[250923],[Isolated aniridia],[5816],,,,, +GARD:16202,Active,Orphanet+OMIM,OMIM:617143,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 20, presynaptic",,"Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by {1:Bauche et al., 2016}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[617143],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16203,Active,Orphanet+OMIM,OMIM:617153,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 45,"[Epileptic encephalopathy, early infantile, 45]","Developmental and epileptic encephalopathy-45 (DEE45) is a neurologic disorder characterized by global developmental delay apparent in infancy or early childhood and onset of seizures within the first 12 months of life. Affected individuals have severely impaired intellectual development, hypotonia, and other persistent neurologic deficits (summary by {1:Burgess et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617153],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16204,Active,Orphanet+OMIM,OMIM:617158,Subtype of disorder,[Disease subtype],"Myopathy, distal, with rimmed vacuoles",[Multisystem proteinopathy 4],"Distal myopathy with rimmed vacuoles (DMRV) is an autosomal dominant myopathic disorder characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles (summary by {2:Bucelli et al., 2015}).",[617158],[602],[GNE myopathy],[9493],,,,, +GARD:16205,Active,Orphanet+OMIM,OMIM:617162,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 46,"[Epileptic encephalopathy, early infantile, 46]","Developmental and epileptic encephalopathy-46 (DEE46) is a neurologic disorder characterized by the onset of intractable seizures in the first months or years of life. Affected individuals show global developmental delay with failure to thrive, hypotonia, and hyperreflexia with variably impaired intellectual development. More severely affected individuals have almost no developmental progress and are unable to sit or speak, whereas others may achieve some milestones (summary by {2:Tsuchida et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617162],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16206,Active,Orphanet+OMIM,OMIM:617166,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 47,"[Epileptic encephalopathy, early infantile, 47]","Developmental and epileptic encephalopathy-47 (DEE47) is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by {2:Guella et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617166],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16207,Active,Orphanet+OMIM,OMIM:617168,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 10","[Aortic aneurysm, thoracic, with or without aortic dissection]",,[617168],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:16208,Active,Orphanet+OMIM,OMIM:617169,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal recessive 74","[Sotos syndrome 3, formerly]","MRT74 is characterized by intellectual impairment, macrocephaly, and dysmorphic features. Epilepsy with eyelid myoclonus has also been reported ({1:Almuriekhi et al., 2015}; {2:Mastrangelo et al., 2020}).",[617169],[821],[Sotos syndrome],[10091],,,,, +GARD:16209,Active,Orphanet+OMIM,OMIM:617174,Subtype of disorder,[Disease subtype],"Ehlers-danlos syndrome, periodontal type, 2",,,[617174],[75392],[Periodontal Ehlers-Danlos syndrome],[12474],,,,, +GARD:16210,Active,Orphanet+OMIM,OMIM:617201,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 7,,"Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by {1:Broix et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.",[617201],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:16211,Active,Orphanet+OMIM,OMIM:617217,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia6",,"Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({2:Witkop, 1989}).",[617217],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:16212,Active,Orphanet+OMIM,OMIM:617239,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 21, presynaptic",,,[617239],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16213,Active,Orphanet+OMIM,OMIM:617243,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group v",,,[617243],[84],[Fanconi anemia],[6425],,,,, +GARD:16214,Active,Orphanet+OMIM,OMIM:617244,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group r",,,[617244],[84],[Fanconi anemia],[6425],,,,, +GARD:16215,Active,Orphanet+OMIM,OMIM:617247,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group u",,,[617247],[84],[Fanconi anemia],[6425],,,,, +GARD:16216,Active,Orphanet+OMIM,OMIM:617251,Subtype of disorder,[Disease subtype],Uncombable hair syndrome 2,,"Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by {2:U. Basmanav et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 ({191480}).",[617251],[1410],[Uncombable hair syndrome],[5404],,,,, +GARD:16217,Active,Orphanet+OMIM,OMIM:617252,Subtype of disorder,[Disease subtype],Uncombable hair syndrome 3,,"Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by {1:U. Basmanav et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 ({191480}).",[617252],[1410],[Uncombable hair syndrome],[5404],,,,, +GARD:16218,Active,Orphanet+OMIM,OMIM:617276,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 48,"[Epileptic encephalopathy, early infantile, 48]","Developmental and epileptic encephalopathy-48 (DEE48) is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech; poor, if any, motor development; and onset of seizures usually in the first year of life, although later onset has been reported. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by {2:Assoum et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617276],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16219,Active,Orphanet+OMIM,OMIM:617280,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 18",,,[617280],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:16220,Active,Orphanet+OMIM,OMIM:617297,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ij",,"Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms ({2:Witkop, 1988}).",[617297],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:16221,Active,Orphanet+OMIM,OMIM:617304,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 77,,,[617304],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16222,Active,Orphanet+OMIM,OMIM:617336,Subtype of disorder,[Disease subtype],"Nemaline myopathy 11, autosomal recessive",,"NEM11 is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by {1:Miyatake et al., 2017}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800}).",[617336],[171439],[Childhood-onset nemaline myopathy],[7171],,,,, +GARD:16223,Active,Orphanet+OMIM,OMIM:617350,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 52,"[Epileptic encephalopathy, early infantile, 52]","Developmental and epileptic encephalopathy-52 (DEE52) is a severe autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development. Affected individuals have impaired intellectual development and may have other persistent neurologic abnormalities, including axial hypotonia and spasticity; death in childhood may occur (summary by {4:Patino et al., 2009} and {5:Ramadan et al., 2017}). Some patients with DEE52 may have a clinical diagnosis of Dravet syndrome ({607208}), which is characterized by the onset of seizures in the first year or 2 of life after normal early development. Developmental delay, impaired intellectual development, and behavioral abnormalities usually become apparent later between 1 and 4 years of age. Dravet syndrome may also include 'severe myoclonic epilepsy in infancy' (SMEI) (summary by {4:Patino et al., 2009}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[617350],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16224,Active,Orphanet+OMIM,OMIM:617389,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 53,"[Epileptic encephalopathy, early infantile, 53]","Developmental and epileptic encephalopathy-53 (DEE53) is a severe autosomal recessive neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood (summary by {1:Hardies et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617389],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16225,Active,Orphanet+OMIM,OMIM:617391,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 54,"[Epileptic encephalopathy, early infantile, 54]","Developmental and epileptic encephalopathy-54 (DEE54) is a severe neurodevelopmental disorder characterized by delayed psychomotor development, early-onset refractory seizures that are often initially febrile but later afebrile, and severe intellectual disability (summary by {2:de Kovel et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617391],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16226,Active,Orphanet+OMIM,OMIM:617406,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 21,,"BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[617406],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16227,Active,Orphanet+OMIM,OMIM:617408,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 16,,,[617408],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16228,Active,Orphanet+OMIM,OMIM:617409,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 17,,,[617409],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16229,Active,Orphanet+OMIM,OMIM:617433,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 78,,,[617433],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:1623,Legacy,GARD,,,,,,,,,,,,Cryptorchidism arachnodactyly mental retardation,TRUE,FALSE,Retired +GARD:16230,Active,Orphanet+OMIM,OMIM:617443,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 21",,"BDPLT21 is a hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists. Platelets are usually enlarged, and some patients may have mild to moderate thrombocytopenia (summary by {1:Saultier et al., 2017}).",[617443],[851],[Paris-Trousseau thrombocytopenia],[4224],,,,, +GARD:16231,Active,Orphanet+OMIM,OMIM:617460,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 79,,,[617460],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16232,Active,Orphanet+OMIM,OMIM:617493,Subtype of disorder,[Clinical syndrome subtype],Neurodevelopmental disorder with involuntary movements,,"NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by {1:Ananth et al., 2016} and {2:Danti et al., 2017}).",[617493],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16233,Active,Orphanet+OMIM,OMIM:617520,Subtype of disorder,[Etiological subtype],"Microcephaly 18, primary, autosomal dominant",,,[617520],[2514],[Autosomal dominant primary microcephaly],[3605],,,,, +GARD:16234,Active,Orphanet+OMIM,OMIM:617542,Subtype of disorder,[Disease subtype],"Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development",[Developmental split-brain syndrome],,[617542],[2744],[Horizontal gaze palsy with progressive scoliosis],[12682],,,,, +GARD:16235,Active,Orphanet+OMIM,OMIM:617561,Subtype of disorder,[Malformation syndrome subtype],Cohen-gibson syndrome,,"Cohen-Gibson syndrome (COGIS) is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by {3:Cooney et al., 2017}).",[617561],[3447],[Weaver syndrome],[7878],,,,, +GARD:16236,Active,Orphanet+OMIM,OMIM:617562,Subtype of disorder,[Malformation syndrome subtype],Meckel syndrome 13,,,[617562],[564],[Meckel syndrome],[3436],,,,, +GARD:16237,Active,Orphanet+OMIM,OMIM:617565,Subtype of disorder,[Disease subtype],Perrault syndrome 6,,"Perrault syndrome-6 (PRTLS6) is an autosomal recessive disorder characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility (summary by {1:Chatzispyrou et al., 2017}).",[617565],[2855],[Perrault syndrome],[2542],,,,, +GARD:16238,Active,Orphanet+OMIM,OMIM:617572,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 7,,,[617572],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:16239,Active,Orphanet+OMIM,OMIM:617577,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 37","[Ciliary dyskinesia, primary, 37, with or without situs inversus]",,[617577],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16240,Active,Orphanet+OMIM,OMIM:617598,Subtype of disorder,[Malformation syndrome subtype],Mosaic variegated aneuploidy syndrome 3,,"MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by {1:Yost et al., 2017}).\n\nFor a discussion of genetic heterogeneity of MVA, see MVA1 ({257300}).",[617598],[1052],[Mosaic variegated aneuploidy syndrome],[3007],,,,, +GARD:16241,Active,Orphanet+OMIM,OMIM:617599,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 55,"[glycosylphosphatidylinositol biosynthesis defect 14, Epileptic encephalopathy, early infantile, 55]","Developmental and epileptic encephalopathy-55 (DEE55) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks or months of life. Affected individuals have an extremely poor outcome, with profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements. Most have cortical visual impairment and require a feeding tube. Brain imaging shows nonspecific abnormalities, including cerebral atrophy, thin corpus callosum, and abnormal signals in the white matter. Death in childhood may occur. Biochemically, the disorder is associated with impaired synthesis of GPI-anchored proteins (summary by {3:Vetro et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[617599],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16242,Active,Orphanet+OMIM,OMIM:617610,Subtype of disorder,[Disease subtype],Polycystic kidney disease 5,,"PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by {1:Lu et al., 2017}).\n\nFor a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 ({173900}).",[617610],[731],[Autosomal recessive polycystic kidney disease],[8378],,,,, +GARD:16243,Active,Orphanet+OMIM,OMIM:617622,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 30,,,[617622],[475],[Joubert syndrome],[6802],,,,, +GARD:16244,Active,Orphanet+OMIM,OMIM:617681,Subtype of disorder,[Malformation syndrome subtype],Blepharocheilodontic syndrome 2,,,[617681],[1997],[Blepharo-cheilo-odontic syndrome],[2071],,,,, +GARD:16245,Active,Orphanet+OMIM,OMIM:617706,Subtype of disorder,[Disease subtype],Spermatogenic failure 22,,,[617706],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16246,Active,Orphanet+OMIM,OMIM:617707,Subtype of disorder,[Disease subtype],Spermatogenic failure 23,,,[617707],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16247,Active,Orphanet+OMIM,OMIM:617729,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 3,,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by {2:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[617729],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16248,Active,Orphanet+OMIM,OMIM:617730,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 4,,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by {1:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[617730],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16249,Active,Orphanet+OMIM,OMIM:617731,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 5,,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by {1:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[617731],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16250,Active,Orphanet+OMIM,OMIM:617760,Subtype of disorder,[Disease subtype],"Myopathy, centronuclear, 6, with fiber-type disproportion",,"CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.\n\nFor a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 ({160150}).",[617760],[2020],[Congenital fiber-type disproportion myopathy],[6161],,,,, +GARD:16251,Active,Orphanet+OMIM,OMIM:617761,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 31,,,[617761],[475],[Joubert syndrome],[6802],,,,, +GARD:16252,Active,Orphanet+OMIM,OMIM:617781,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 80,,,[617781],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16253,Active,Orphanet+OMIM,OMIM:617800,Subtype of disorder,[Etiological subtype],"Microcephaly 19, primary, autosomal recessive",,"Autosomal recessive primary microcephaly-19 (MCPH19) is a rare congenital brain defect resulting in a reduction of occipitofrontal head circumference by at least 3 standard deviations, severe developmental delay, failure to thrive, cortical blindness, and spasticity ({1:DiStasio et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[617800],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16254,Active,Orphanet+OMIM,OMIM:617808,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 6,,"Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients ({2:Shang et al., 2015}; {3:Van Paemel et al., 2017}; {1:Bramswig et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[617808],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16255,Active,Orphanet+OMIM,OMIM:617809,Subtype of disorder,[Malformation syndrome subtype],Geleophysic dysplasia 3,,,[617809],[2623],[Geleophysic dysplasia],[2449],,,,, +GARD:16256,Active,Orphanet+OMIM,OMIM:617821,Subtype of disorder,[Disease subtype],"Ehlers-danlos syndrome, arthrochalasia type, 2","[eds viib, Ehlers-danlos syndrome, type viib, autosomal dominant]","Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement ({1:Byers et al., 1997}; {4:Giunta et al., 2008}).\n\nFor a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.",[617821],[1899],[Arthrochalasia Ehlers-Danlos syndrome],[2084],,,,, +GARD:16257,Active,Orphanet+OMIM,OMIM:617825,Subtype of disorder,[Disease subtype],Glucocorticoid deficiency 5,,"Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation ({1:Prasad et al., 2014}).\n\nFor a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200}).",[617825],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:16258,Active,Orphanet+OMIM,OMIM:617829,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 92,"[Epileptic encephalopathy, infantile or early childhood, 2]","Developmental and epileptic encephalopathy-92 (DEE92) is characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable impairment of intellectual development. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by {1:Hamdan et al., 2017}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[617829],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16259,Active,Orphanet+OMIM,OMIM:617830,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 58,"[Epileptic encephalopathy, early infantile, 58]","Developmental and epileptic encephalopathy-58 (DEE58) is a severe neurodevelopmental disorder characterized by the onset of infantile spasms and refractory seizures in the first days or months of life. Affected individuals have global developmental delay with impaired intellectual development, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, feeding difficulties, and spasticity (summary by {1:Hamdan et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617830],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:1626,Active,Orphanet,ORPHA:1552,Disorder,[Malformation syndrome],Currarino syndrome,[Currarino triad],"Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).",[176450],,,,,Currarino triad,TRUE,FALSE,Active +GARD:16260,Active,Orphanet+OMIM,OMIM:617831,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 55, with seizures","[Mental retardation, autosomal dominant 55, with seizures]",,[617831],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16261,Active,Orphanet+OMIM,OMIM:617836,Subtype of disorder,[Disease subtype],Developmental delay and seizures with or without movement abnormalities,,"DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).",[617836],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16262,Active,Orphanet+OMIM,OMIM:617839,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 23,,,[617839],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:16263,Active,Orphanet+OMIM,OMIM:609265,Subtype of disorder,[Disease subtype],Li-fraumeni syndrome 2,,,[609265],[524],[Li-Fraumeni syndrome],[6902],,,,, +GARD:16264,Active,Orphanet+OMIM,OMIM:617883,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group s",,"Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by {2:Freire et al., 2018}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[617883],[84],[Fanconi anemia],[6425],,,,, +GARD:16265,Active,Orphanet+OMIM,OMIM:617892,Subtype of disorder,[Disease subtype],"Amyotrophic lateral sclerosis, susceptibility to, 24",,"Amyotrophic lateral sclerosis-24 (ALS24) is a fatal neurodegenerative disease characterized by adult-onset loss of motor neurons ({1:Brenner et al., 2016}).",[617892],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:16266,Active,Orphanet+OMIM,OMIM:617899,Subtype of disorder,[Disease subtype],"Leukodystrophy, hypomyelinating, 14",,"Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by {1:Hamilton et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.",[617899],[139441],[Hypomyelination with atrophy of basal ganglia and cerebellum],[10917],,,,, +GARD:16267,Active,Orphanet+OMIM,OMIM:617900,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8","[Herpes simplex encephalitis, susceptibility to, 6]",,[617900],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:16268,Active,Orphanet+OMIM,OMIM:617914,Subtype of disorder,[Etiological subtype],"Microcephaly 20, primary, autosomal recessive",,,[617914],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16269,Active,Orphanet+OMIM,OMIM:617924,Subtype of disorder,[Disease subtype],"Epilepsy, juvenile myoclonic, susceptibility to, 10",,"Juvenile myoclonic epilepsy-10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. The age of onset also shows great variability: some patients present in the first years of life, whereas other have onset of seizures in teenage years. EEG typically shows 3.5 to 5 Hz polyspike wave discharges. There is evidence of incomplete penetrance (summary by {1:Bailey et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}.",[617924],[307],[Juvenile myoclonic epilepsy],[6808],,,,, +GARD:16270,Active,Orphanet+OMIM,OMIM:617929,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 60,"[Epileptic encephalopathy, early infantile, 60]","Developmental and epileptic encephalopathy-60 (DEE60) is an autosomal recessive neurologic disorder characterized by the onset of infantile spasms, seizures, or myoclonus in the first months of life. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severe global developmental delay with inability to sit, walk, or speak. Brain imaging may show brain atrophy and hippocampal malrotation (summary by {1:Mutoh et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[617929],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:16271,Active,Orphanet+OMIM,OMIM:617938,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 62,"[Epileptic encephalopathy, early infantile, 62]","Developmental and epileptic encephalopathy-62 (DEE62) is a severe neurologic disorder characterized by the onset of various types of refractory seizures in the first weeks or months of life. Affected individuals have severe to profound developmental delay with hypotonia and impaired motor and cognitive development. Additional features may include spasticity, microcephaly, and brain imaging abnormalities (summary by {1:Zaman et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[617938],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16272,Active,Orphanet+OMIM,OMIM:617941,Subtype of disorder,[Disease subtype],Shwachman-diamond syndrome 2,,"Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({2:Stepensky et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 ({260400}).",[617941],[811],[Shwachman-Diamond syndrome],[4863],,,,, +GARD:16273,Active,Orphanet+OMIM,OMIM:617948,Subtype of disorder,[Disease subtype],Elliptocytosis 3,,"Hereditary elliptocytosis-3 (EL3) is a hemolytic disorder characterized by the presence of elliptical erythrocytes and resulting in some cases in hemolytic anemia (summary by {12:Qualtieri et al., 1997}).\n\nFor a general description and a discussion of genetic heterogeneity of hereditary elliptocytosis (HE), see EL1 ({611804}).",[617948],[288],[Hereditary elliptocytosis],[6621],,,,, +GARD:16274,Active,Orphanet+OMIM,OMIM:617960,Subtype of disorder,[Disease subtype],Spermatogenic failure 25,,"Spermatogenic failure-25 is characterized by small testes and infertility, with severe oligozoospermia or azoospermia due to maturation arrest at the primary spermatocyte stage ({2:Okutman et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617960],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16275,Active,Orphanet+OMIM,OMIM:617970,Subtype of disorder,[Disease subtype],"Rh-null, amorph type",,"The RH-null phenotype designates rare individuals whose red blood cells lack all Rh antigens. Two RH-null types, the regulator type ({268150}) and the amorph type, arising from independent genetic mechanisms have been distinguished. The regulator type is caused by mutation in the RHAG gene ({180297}). The amorph type arises from mutations at the RH locus itself that silence Rh expression. The RH locus contains the RHD ({111680}) and RHCE genes tandemly arranged at chromosome 1p36-p34. Four genes must therefore be silenced to produce the RH-null phenotype. The absence of the D antigen, produced by the RHD gene, is common in the human population; the D-negative phenotype may result from deletion or genetic alteration of the RHD gene. The RH-null amorph phenotype thus arises from inactivating mutations in RHCE on a D-negative background (summary by {2:Huang et al., 1998}, {3:Huang et al., 2000}).\n\nClinically, Rh-null patients present mild to moderate hemolytic anemia; cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. Rh-null patients rarely develop antibodies without stimulation, and most cases occur in response to pregnancy or transfusion ({8:Silvy et al., 2015}).",[617970],[71275],[Rh deficiency syndrome],[12916],,,,, +GARD:16276,Active,Orphanet+OMIM,OMIM:617971,Subtype of disorder,[Disease subtype],"Methemoglobinemia, beta type",,"Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit ({141800}), cyanosis is apparent at birth, whereas if the beta chain is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; {142250}), cyanosis disappears when the complete gamma-beta-switch occurs (summary by {3:Mansouri and Lurie, 1993}).",[617971],[330041],[Hemoglobin M disease],[13007],,,,, +GARD:16277,Active,Orphanet+OMIM,OMIM:617973,Subtype of disorder,[Disease subtype],"Methemoglobinemia, alpha type",,"Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit, cyanosis is apparent at birth, whereas if the beta chain ({141900}) is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; {142250}), cyanosis disappears when the complete gamma-beta-switch occurs (summary by {3:Mansouri and Lurie, 1993}).",[617973],[330041],[Hemoglobin M disease],[13007],,,,, +GARD:16278,Active,Orphanet+OMIM,OMIM:617983,Subtype of disorder,[Etiological subtype],"Microcephaly 21, primary, autosomal recessive",,,[617983],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16279,Active,Orphanet+OMIM,OMIM:617984,Subtype of disorder,[Etiological subtype],"Microcephaly 22, primary, autosomal recessive",,,[617984],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16280,Active,Orphanet+OMIM,OMIM:617985,Subtype of disorder,[Etiological subtype],"Microcephaly 23, primary, autosomal recessive",,,[617985],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16281,Active,Orphanet+OMIM,OMIM:617993,Subtype of disorder,[Clinical subtype],"Tumoral calcinosis, hyperphosphatemic, familial, 2",,"Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone ({3:Chefetz et al., 2005}). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 ({601756}) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement ({4:Frishberg et al., 2005}), {5:Ichikawa et al. (2010)} concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.\n\nHFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; {193100}), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption ({3:Chefetz et al., 2005}; {6:Ichikawa et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see {211900}.",[617993],[306661],[Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome],[10879],,,,, +GARD:16282,Active,Orphanet+OMIM,OMIM:617994,Subtype of disorder,[Clinical subtype],"Tumoral calcinosis, hyperphosphatemic, familial, 3",,"Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone ({1:Chefetz et al., 2005}). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 ({605380}) or GALNT3 ({601756}) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement ({2:Frishberg et al., 2005}), {3:Ichikawa et al. (2010)} concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.\n\nHFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; {193100}), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption ({1:Chefetz et al., 2005}; {5:Ichikawa et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see {211900}.",[617994],[306661],[Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome],[10879],,,,, +GARD:16283,Active,Orphanet+OMIM,OMIM:618008,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 65,"[Epileptic encephalopathy, early infantile, 65]","Developmental and epileptic encephalopathy-65 (DEE65) is characterized by onset of intractable seizures of various types usually within the first months or years of life, severe to profound psychomotor developmental delay, and mild facial dysmorphism (summary by {1:Nakashima et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618008],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16284,Active,Orphanet+OMIM,OMIM:618011,Subtype of disorder,[Disease subtype],Hyperekplexia 4,,"Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).\n\nFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 ({149400}).",[618011],[3197],[Hereditary hyperekplexia],[3129],,,,, +GARD:16285,Active,Orphanet+OMIM,OMIM:618012,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 93,,"Developmental and epileptic encephalopathy (DEE93) is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by {1:Fassio et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[618012],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16286,Active,Orphanet+OMIM,OMIM:618021,Subtype of disorder,[Malformation syndrome subtype],Tetraamelia syndrome 2,[Tetraamelia syndrome 2 with pulmonary agenesis],"Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia ({3:Szenker-Ravi et al., 2018}).\n\nFor a discussion of genetic heterogeneity of TETAMS, see {273395}.",[618021],[3301],[Tetraamelia-multiple malformations syndrome],[386],,,,, +GARD:16287,Active,Orphanet+OMIM,OMIM:618027,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 7,,"Coffin-Siris syndrome-7 (CSS7) is a neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by {1:Vasileiou et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[618027],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16288,Active,Orphanet+OMIM,OMIM:618063,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 38","[Ciliary dyskinesia, primary, 38, with or without situs inversus]","Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by {1:Fassad et al., 2018} and {2:Hoben et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[618063],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16289,Active,Orphanet+OMIM,OMIM:618065,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1d",,"Pontocerebellar hypoplasia type 1D (PCH1D) is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by {2:Burns et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[618065],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:1629,Active,Orphanet,ORPHA:423717,Disorder,[Disease],Cutaneous larva migrans,,"Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpiginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.",,,,,,Cutaneous larva migrans,TRUE,FALSE,Active +GARD:16290,Active,Orphanet+OMIM,OMIM:618086,Subtype of disorder,[Disease subtype],Spermatogenic failure 28,,"Spermatogenic failure-28 (SPGF28) is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue ({1:Kasak et al., 2018}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618086],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16291,Active,Orphanet+OMIM,OMIM:618110,Subtype of disorder,[Disease subtype],Spermatogenic failure 30,,"Spermatogenic failure-30 is characterized by male infertility due to nonobstructive azoospermia or cryptozoospermia. The few sperm that have been observed are immotile and have small heads. Testicular histology in azoospermic patients shows incomplete maturation arrest, with a Sertoli cell-only pattern in some areas ({1:Arafat et al., 2017}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see {258150}.",[618110],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16292,Active,Orphanet+OMIM,OMIM:618115,Subtype of disorder,[Disease subtype],Spermatogenic failure 32,,"Spermatogenic failure-32 (SPGF32) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern ({1:Choi et al., 2010}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see {258150}.",[618115],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16293,Active,Orphanet+OMIM,OMIM:618123,Subtype of disorder,[Malformation syndrome subtype],"Polydactyly, postaxial, type a8",,"Postaxial polydactyly type A8 is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails ({1:Palencia-Campos et al., 2017}).\n\nFor a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[618123],[289],[Ellis Van Creveld syndrome],[1301],,,,, +GARD:16294,Active,Orphanet+OMIM,OMIM:618135,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8","[muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related, Muscular dystrophy, limb-girdle, autosomal recessive 24]","MDDGC8 is an autosomal recessive muscular dystrophy with onset in childhood. The phenotype is highly variable: some patients may have gait difficulties and impaired intellectual development, whereas others may be clinically asymptomatic. Common features include calf hypertrophy and increased serum creatine kinase, and muscle biopsy often shows dystrophic features (summary by {1:Endo et al., 2015}). The disorder is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' ({2:Godfrey et al., 2007}).\n\nFor a discussion of genetic heterogeneity of muscular dystrophy- dystroglycanopathy type C, see MDDGC1 ({609308}).",[618135],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:16295,Active,Orphanet+OMIM,OMIM:618141,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 67,"[Epileptic encephalopathy, early infantile, 67]","Developmental and epileptic encephalopathy-67 (DEE67) is characterized by the onset of various types of seizures in the first months of life, although later onset may occur in milder cases. The seizures tend to be resistant to treatment. Affected individuals have global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior (summary by {2:Chatron et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618141],[2382],[Lennox-Gastaut syndrome],[9912],,,,, +GARD:16296,Active,Orphanet+OMIM,OMIM:618154,Subtype of disorder,[Malformation syndrome subtype],Hennekam lymphangiectasia-lymphedema syndrome 3,,"Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity ({1:Brouillard et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 ({235510}).",[618154],[2136],[Hennekam syndrome],[3318],,,,, +GARD:16297,Active,Orphanet+OMIM,OMIM:618161,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 35,,"Joubert syndrome-35 is an autosomal recessive disorder characterized by brain malformations that result in developmental delay, oculomotor apraxia, and hypotonia. Some patients have renal and retinal involvement ({1:Alkanderi et al., 2018}).\n\nFor a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300}).",[618161],[475],[Joubert syndrome],[6802],,,,, +GARD:16298,Active,Orphanet+OMIM,OMIM:618173,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 83,,"Retinitis pigmentosa-83 (RP83) is characterized by onset of night blindness in the first decade of life, with decreased central vision in the second decade of life in association with retinal degeneration. The retinal dystrophy is associated with cataract, and macular edema has also been reported in some patients ({1:Holtan et al., 2019}).",[618173],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16299,Active,Orphanet+OMIM,OMIM:618176,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 17",,"NPHS17, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis ({1:Braun et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[618176],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:163,Legacy,GARD,,,,,,,,,,,,Schizophrenia mental retardation deafness retinitis,TRUE,FALSE,Retired +GARD:16300,Active,Orphanet+OMIM,OMIM:618177,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 18",,"NPHS18, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis ({1:Braun et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[618177],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16301,Active,Orphanet+OMIM,OMIM:618178,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 19",,"NPHS19, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis (summary by {1:Braun et al., 2018}).",[618178],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16302,Active,Orphanet+OMIM,OMIM:618179,Subtype of disorder,"[Etiological subtype, Disease subtype]","Microcephaly 24, primary, autosomal recessive",,,[618179],"[2512, 656]","[Genetic steroid-resistant nephrotic syndrome, Autosomal recessive primary microcephaly]","[12117, 3946]",,,,, +GARD:16303,Active,Orphanet+OMIM,OMIM:618185,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 8,,"Periventricular nodular heterotopia-8 (PVNH8) is a neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. Three patients have been reported ({1:Ge et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see PVNH1 ({300049}).",[618185],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:16304,Active,Orphanet+OMIM,OMIM:618188,Subtype of disorder,[Disease subtype],"Hyperparathyroidism, transient neonatal",,"Transient neonatal hyperparathyroidism is characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Because 80% of calcium is transferred during the third trimester, abnormalities may not be detected on second-trimester ultrasounds. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally, with most patients showing complete resolution of skeletal abnormalities by 2 years of age ({1:Suzuki et al., 2018}).",[618188],[417],[Neonatal severe primary hyperparathyroidism],[2838],,,,, +GARD:16305,Active,Orphanet+OMIM,OMIM:618189,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 2c",,"CMD2C is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years. Affected individuals exhibit reduction in coenzyme A (CoA) levels. Some severely affected children die in the first few years of life ({1:Iuso et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see {115200}.",[618189],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:16306,Active,Orphanet+OMIM,OMIM:618195,Subtype of disorder,[Disease subtype],Intellectual developmental disorder and retinitis pigmentosa,,"Intellectual developmental disorder and retinitis pigmentosa (IDDRP) is characterized by mild to moderate intellectual disability and typical features of RP. Patients experience reduced night vision, constriction of visual fields, and reduced visual acuity; optic disc pallor, attenuated retinal blood vessels, and bone-spicule pigmentation are seen on funduscopy. Attention-deficit/hyperactivity disorder is observed in some patients ({1:Tatour et al., 2017}).",[618195],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16307,Active,Orphanet+OMIM,OMIM:618196,Subtype of disorder,[Morphological anomaly subtype],Capillary malformation-arteriovenous malformation 2,,"Capillary malformation-arteriovenous malformation-2 (CMAVM2) is an autosomal dominant disorder with variable expressivity. Patients have small multifocal cutaneous capillary malformations (CMs) on the head, neck, trunk, and/or extremities, sometimes in association with arteriovenous malformations (AVMs), which are typically located in the brain, face, or extremities. Some affected individuals also exhibit Parkes Weber lesions of the extremities, and vein of Galen aneurysmal malformations (VGAMs) are present in some patients ({1:Amyere et al., 2017}).\n\nFor a discussion of genetic heterogeneity of CMAVM, see {608354}.",[618196],[1053],[Vein of Galen aneurysmal malformation],[5467],,,,, +GARD:16308,Active,Orphanet+OMIM,OMIM:618197,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 23, presynaptic",,,[618197],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16309,Active,Orphanet+OMIM,OMIM:618198,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 24, presynaptic",,,[618198],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:1631,Legacy,GARD,,,,,,,,,,,,"Cushing syndrome, familial",TRUE,FALSE,Retired +GARD:16310,Active,Orphanet+OMIM,OMIM:618201,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 68,"[Epileptic encephalopathy, early infantile, 68]","Developmental and epileptic encephalopathy-68 (DEE68) is an autosomal recessive neurologic disorder characterized by onset of twitching and/or myoclonic jerks in infancy. The disorder progresses to refractory generalized tonic-clonic seizures, often resulting in status epilepticus, loss of developmental milestones, and early death. Other features include delayed development, axial hypotonia, spasticity of the limbs, and clonus. Brain imaging may show cortical atrophy (summary by {2:Barel et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618201],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16311,Active,Orphanet+OMIM,OMIM:618220,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 84,,"RP84 is an autosomal recessive, early-onset form of retinitis pigmentosa, with onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7. Some patients retain light perception ({1:Ajmal et al., 2014}; {2:Latif et al., 2018}).",[618220],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16312,Active,Orphanet+OMIM,OMIM:618222,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 2",,,[618222],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16313,Active,Orphanet+OMIM,OMIM:618224,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 3",,,[618224],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16314,Active,Orphanet+OMIM,OMIM:618225,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 4",,,[618225],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16315,Active,Orphanet+OMIM,OMIM:618226,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 5",,,[618226],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16316,Active,Orphanet+OMIM,OMIM:618228,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 6",,,[618228],"[70474, 255241, 2609]","[Leigh syndrome with cardiomyopathy, Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908, 16685]",,,,, +GARD:16317,Active,Orphanet+OMIM,OMIM:618229,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 7",,,[618229],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16318,Active,Orphanet+OMIM,OMIM:618230,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 8",,,[618230],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16319,Active,Orphanet+OMIM,OMIM:618232,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 9",,,[618232],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16320,Active,Orphanet+OMIM,OMIM:618233,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 10",,,[618233],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16321,Active,Orphanet+OMIM,OMIM:618234,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 11",,,[618234],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16322,Active,Orphanet+OMIM,OMIM:618236,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 14",,,[618236],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16323,Active,Orphanet+OMIM,OMIM:618237,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 15",,,[618237],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16324,Active,Orphanet+OMIM,OMIM:618238,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 16",,,[618238],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16325,Active,Orphanet+OMIM,OMIM:618240,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 18",,,[618240],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16326,Active,Orphanet+OMIM,OMIM:618241,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 19",,,[618241],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16327,Active,Orphanet+OMIM,OMIM:618242,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 21",,,[618242],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16328,Active,Orphanet+OMIM,OMIM:618245,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 24",,,[618245],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16329,Active,Orphanet+OMIM,OMIM:618246,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 25",,,[618246],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:1633,Active,Orphanet,ORPHA:2881,Disorder,[Disease],Cutaneous photosensitivity-lethal colitis syndrome,,A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.,[219095],,,,,"Cutaneous photosensitivity and colitis, lethal",TRUE,FALSE,Active +GARD:16330,Active,Orphanet+OMIM,OMIM:618250,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 29",,,[618250],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16331,Active,Orphanet+OMIM,OMIM:618251,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 31",,,[618251],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16332,Active,Orphanet+OMIM,OMIM:618253,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 33",,,[618253],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16333,Active,Orphanet+OMIM,OMIM:618264,Subtype of disorder,[Disease subtype],Mirror movements 4,,"Congenital mirror movements-4 is an autosomal dominant condition characterized by involuntary movements on either side of the body that accompany and mirror intentional movements on the opposite side. Mirror movements usually involve the upper limb and hands, resulting in difficulty performing pure unimanual movements. The pathophysiology is probably related to developmental abnormalities of fiber decussation in the corticospinal tract (summary by {1:Meneret et al., 2017}).\n\nFor a discussion of genetic heterogeneity of mirror movements, see MRMV1 ({157600}).",[618264],[238722],[Familial congenital mirror movements],[12551],,,,, +GARD:16334,Active,Orphanet+OMIM,OMIM:618267,Subtype of disorder,[Disease subtype],"Epidermodysplasia verruciformis, susceptibility to, 3",,"Epidermodysplasia verruciformis-3 is characterized by onset in childhood or early adulthood of persistent disseminated flat warts and pityriasis versicolor-like lesions of the skin that are induced by cutaneous human papillomaviruses (HPVs) of the beta genus. Some patients develop nonmelanoma skin cancer, particularly on areas of the body exposed to the sun. Patients are otherwise healthy and normally resistant to other microorganisms, including other viruses and skintropic pathogens, and even all other cutaneous and mucosal HPVs ({1:de Jong et al., 2018}).\n\nFor a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 ({226400}).",[618267],[302],[Epidermodysplasia verruciformis],[6357],,,,, +GARD:16335,Active,Orphanet+OMIM,OMIM:618275,Subtype of disorder,[Disease subtype],Hypotrichosis 14,,"Hypotrichosis-14 (HYPT14) is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair ({2:Romano et al., 2018}).\n\nFor a discussion of genetic heterogeneity of hypotrichosis, see HYPT1 ({605389}).",[618275],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:16336,Active,Orphanet+OMIM,OMIM:618298,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 70,"[Epileptic encephalopathy, early infantile, 70]","Developmental and epileptic encephalopathy-70 (DEE70) is neurologic disorder characterized by the onset of epileptic spasms or seizures in the first months of life. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills; intellectual impairment ranges from moderate to severe (summary by {2:Hamada et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[618298],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:16337,Active,Orphanet+OMIM,OMIM:618309,Subtype of disorder,[Disease subtype],"Epidermodysplasia verruciformis, susceptibility to, 5",,"Epidermodysplasia verruciformis-5 is an autosomal recessive immunologic disorder characterized by onset of warts and verrucous or plaque-like skin lesions associated with HPV infection. Immunologic workup shows T-cell lymphopenia, particularly affecting CD4+ T cells. There is an increased risk of skin malignancy, and some patients may have other symptoms of immune dysfunction (summary by {1:Horev et al., 2015}).\n\nFor a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 ({226400}).",[618309],[302],[Epidermodysplasia verruciformis],[6357],,,,, +GARD:16338,Active,Orphanet+OMIM,OMIM:618310,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 18,,,[618310],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16339,Active,Orphanet+OMIM,OMIM:618312,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 19,,,[618312],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16340,Active,Orphanet+OMIM,OMIM:618313,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 20,,,[618313],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16341,Active,Orphanet+OMIM,OMIM:618323,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 25, presynaptic",,"Congenital myasthenic syndrome-25 is an autosomal recessive neuromuscular disorder characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine. Pyridostigmine treatment may be partially effective (summary by {4:Shen et al., 2017}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[618323],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16342,Active,Orphanet+OMIM,OMIM:618345,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 85,,,[618345],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16343,Active,Orphanet+OMIM,OMIM:618347,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 6,,"Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with GAMOS6 also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported (summary by {1:Braun et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[618347],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16344,Active,Orphanet+OMIM,OMIM:618348,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 7,,"Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome (summary by {4:Rosti et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[618348],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16345,Active,Orphanet+OMIM,OMIM:618349,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 8,,"Galloway-Mowat syndrome-8 is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood (summary by {1:Fujita et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[618349],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16346,Active,Orphanet+OMIM,OMIM:618351,Subtype of disorder,[Etiological subtype],"Microcephaly 25, primary, autosomal recessive",,,[618351],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16347,Active,Orphanet+OMIM,OMIM:618362,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 8,,"Coffin-Siris syndrome-8 is characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities. Dysmorphic features may or may not be present and include hypertrichosis or thin scalp hair, thick eyebrows, thin upper vermilion, and upturned nose ({1:Machol et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[618362],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16348,Active,Orphanet+OMIM,OMIM:618395,Subtype of disorder,[Disease subtype],"Spondyloepimetaphyseal dysplasia with joint laxity, type 3",,"Spondyloepimetaphyseal dysplasia with joint laxity-3 (SEMDJL3) is characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones ({2:Girisha et al., 2016}).\n\nFor a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 ({271640}).",[618395],[93359],[Spondyloepimetaphyseal dysplasia with joint laxity],[4982],,,,, +GARD:16349,Active,Orphanet+OMIM,OMIM:618396,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 74,"[Epileptic encephalopathy, early infantile, 74]","Developmental and epileptic encephalopathy-74 (DEE74) is neurologic disorder characterized by the onset of refractory seizures in the first months of life. Seizure types are variable and include infantile spasms, myoclonic, tonic, atonic, and absence, often with secondary generalization. Affected individuals have severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language (summary by {1:Shen et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618396],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:1635,Legacy,GARD,,,,,,,,,,,,Cutis gyratum acanthosis nigricans craniosynostosis,TRUE,FALSE,Active +GARD:16350,Active,Orphanet+OMIM,OMIM:618415,Subtype of disorder,[Clinical subtype],Cataract 48,,"Cataract-48 (CTRCT48) is characterized by infantile or early-childhood cataracts and visual impairment ({1:Ansar et al., 2018}).",[618415],[98994],[Total early-onset cataract],[1159],,,,, +GARD:16351,Active,Orphanet+OMIM,OMIM:618435,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, distal, type 2b2",,"Distal arthrogryposis type 2B2 (DA2B2) is characterized by congenital contractures of the distal limb joints and facial dysmorphism. Marked inter- and intrafamilial variability has been reported (summary by {1:Daly et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see {108120}.",[618435],"[1146, 1147]","[Sheldon-Hall syndrome, Distal arthrogryposis type 1]","[16556, 787]",,,,, +GARD:16352,Active,Orphanet+OMIM,OMIM:618437,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 75,"[Epileptic encephalopathy, early infantile, 75]","Developmental and epileptic encephalopathy-75 (DEE75) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by onset of severe refractory seizures in the first months of life. Patients often have global developmental delay before the onset of seizures, and thereafter achieve few milestones. EEG usually shows multifocal spikes and hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. They have severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia. Brain imaging shows progressive cerebral atrophy, frontal lobe atrophy, white matter abnormalities, and delayed myelination. Since the disorder is due to mitochondrial dysfunction, some patients may develop other organ involvement, including cardiomyopathy or liver and renal dysfunction. Death may occur in childhood (summary by {6:Yin et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618437],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16353,Active,Orphanet+OMIM,OMIM:618449,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 41",,"Ciliary dyskinesia-41 (CILD41) is an autosomal recessive disorder characterized by chronic sinusitis, otitis media, and bronchiectasis ({1:Bustamante-Marin et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[618449],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16354,Active,Orphanet+OMIM,OMIM:618464,Subtype of disorder,[Disease subtype],Paragangliomas 6,,"Paragangliomas-6 (PGL6) is an adult-onset tumor predisposition syndrome in which affected individuals develop neuroendocrine neoplasms, known as paragangliomas. Many tumors arise in the abdomen, although some may arise in other regions, including the head and neck. Some of the tumors may secrete biologically active normetanephrines, resulting in secondary hypertension. Tumors may be benign or malignant, and some may metastasize (summary by {1:Buffet et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 ({168000}).",[618464],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,,,, +GARD:16355,Active,Orphanet+OMIM,OMIM:618468,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 76,"[developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination, Epileptic encephalopathy, early infantile, 76]","Developmental and epileptic encephalopathy-76 (DEE76) is an autosomal recessive neurodevelopmental disorder characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging, mainly cerebral atrophy and delayed myelination. Some patients may have additional features, such as scoliosis or microcephaly. The disorder may result in death in childhood (summary by {1:Bell et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618468],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16356,Active,Orphanet+OMIM,OMIM:618475,Subtype of disorder,[Disease subtype],Paragangliomas 7,,"Paragangliomas-7 (PGL7) is an autosomal dominant tumor predisposition syndrome in which affected individuals develop adult-onset neuroendocrine neoplasms, know as paragangliomas. Most tumors arise in the abdomen, secrete normetanephrine, and follow a benign disease course (summary by {1:Remacha et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 ({168000}).",[618475],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,,,, +GARD:16357,Active,Orphanet+OMIM,OMIM:618499,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 11,,"Noonan syndrome-11 (NS11) is characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and a consistent cardiac phenotype of cardiac hypertrophy ({1:Higgins et al., 2017}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[618499],[648],[Noonan syndrome],[10955],,,,, +GARD:16358,Active,Orphanet+OMIM,OMIM:618506,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 10,,"Coffin-Siris syndrome-10 is characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present ({1:Zawerton et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[618506],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16359,Active,Orphanet+OMIM,OMIM:618513,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 19,,"Leber congenital amaurosis-19 (LCA19) is characterized by reduced vision in early childhood and severely reduced responses of both rods and cones on electroretinography ({2:Yi et al., 2019}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[618513],[65],[Leber congenital amaurosis],[634],,,,, +GARD:16360,Active,Orphanet+OMIM,OMIM:618534,Subtype of disorder,[Disease subtype],Immunodeficiency 64,,"Immunodeficiency-64 (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity (summary by {4:Salzer et al., 2016}, {1:Mao et al., 2018}, and {5:Winter et al., 2018}).",[618534],[3261],[Autoimmune lymphoproliferative syndrome],[8686],,,,, +GARD:16361,Active,Orphanet+OMIM,OMIM:618535,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 15, hypohidrotic/hair type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nEctodermal dysplasia-15 (ECTD15) is characterized by hypotrichosis that develops in early childhood and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia ({1:van den Bogaard et al., 2019}).",[618535],[248],[Autosomal recessive hypohidrotic ectodermal dysplasia],[2057],,,,, +GARD:16362,Active,Orphanet+OMIM,OMIM:618546,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 7, nonphotosensitive",,"Nonphotosensitive trichothiodystrophy-7 (TTD7) is an autosomal recessive disorder characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis ({1:Theil et al., 2019}).\n\nFor a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.",[618546],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:16363,Active,Orphanet+OMIM,OMIM:618548,Subtype of disorder,[Clinical syndrome subtype],Multiple congenital anomalies-hypotonia-seizures syndrome 4,"[developmental and epileptic encephalopathy 77, Glycosylphosphatidylinositol biosynthesis defect 19, epileptic encephalopathy, early infantile, 77]","Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months of life. Patients have severe global developmental delay, and may have additional variable features, including dysmorphic or coarse facial features, visual defects, and mild skeletal or renal anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by {4:Starr et al., 2019}).\n\nFor a discussion of genetic heterogeneity of MCAHS, see MCAHS1 ({614080}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[618548],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16364,Active,Orphanet+OMIM,OMIM:618555,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type1i",,"Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Older patients may show retinitis pigmentosa-like retinal degeneration ({1:Stunkel et al., 2018}).",[618555],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:16365,Active,Orphanet+OMIM,OMIM:618557,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 78,"[Epileptic encephalopathy, early infantile, 78]","Developmental and epileptic encephalopathy-78 (DEE78) is a severe neurologic disorder characterized by onset of refractory seizures in the first days or months of life followed by severely impaired intellectual development. Additional features may include cortical visual impairment, hypotonia, and abnormal movements, such as spasticity (summary by {1:Butler et al., 2018}). One family with an attenuated disease course has been reported ({2:Maljevic et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618557],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16366,Active,Orphanet+OMIM,OMIM:618559,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 79,"[Epileptic encephalopathy, early infantile, 79]","Developmental and epileptic encephalopathy-79 (DEE79) is a severe neurologic disorder characterized by onset of refractory seizures in the first months of life. Affected individuals have severely impaired psychomotor development and may show hypotonia or spasticity. Brain imaging may show hypomyelination, cerebral atrophy, and thinning of the corpus callosum (summary by {1:Butler et al., 2018} and {2:Hernandez et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618559],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16367,Active,Orphanet+OMIM,OMIM:618587,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 60, with seizures","[Mental retardation, autosomal dominant 60, with seizures]","Autosomal dominant intellectual developmental disorder-60 with seizures is characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life. Patients have delayed walking, an ataxic gait, and moderately to severely impaired intellectual development with poor speech (summary by {1:Helbig et al., 2019}).",[618587],[1942],[Myoclonic-astatic epilepsy],[2169],,,,, +GARD:16368,Active,Orphanet+OMIM,OMIM:618613,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 86,,"Retinitis pigmentosa-86 (RP86) is characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity, with typical findings of RP on fundus examination, including attenuated retinal vessels, waxy pallor of the optic disc, and bone spicule-like pigmentation ({1:de Bruijn et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[618613],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16369,Active,Orphanet+OMIM,OMIM:618624,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 12,,"Noonan syndrome-12 (NS12) is characterized by macrocephaly and a recognizable facies, including hypertelorism, downslanting palpebral fissures, and low-set ears, as well as other features consistent with a Noonan syndrome diagnosis. Inter- and intrafamilial variability has been observed ({1:Capri et al., 2019}; {2:Niihori et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[618624],[648],[Noonan syndrome],[10955],,,,, +GARD:1637,Legacy,GARD,,,,,,,,,,,,Cutis laxa osteoporosis,TRUE,FALSE,Active +GARD:16370,Active,Orphanet+OMIM,OMIM:618632,Subtype of disorder,[Clinical subtype],"Usher syndrome, type 1m",,"Usher syndrome type 1M (USH1M) is characterized by prelingual sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa ({1:Ahmed et al., 2018}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Usher syndrome, see USH1 ({276900}).",[618632],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:16371,Active,Orphanet+OMIM,OMIM:618658,Subtype of disorder,[Malformation syndrome subtype],Zimmermann-laband syndrome 3,,"Zimmermann-Laband syndrome-3 (ZLS3) is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia ({1:Bauer et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 ({135500}).",[618658],[3473],[Zimmermann-Laband syndrome],[385],,,,, +GARD:16372,Active,Orphanet+OMIM,OMIM:618666,Subtype of disorder,[Disease subtype],Sitosterolemia 2,,"Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease (summary by {1:Berge et al., 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of sitosterolemia, see {210250}.",[618666],[2882],[Sitosterolemia],[7653],,,,, +GARD:16373,Active,Orphanet+OMIM,OMIM:618695,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 42","[Ciliary dyskinesia, primary, 42, without situs inversus]","Primary ciliary dyskinesia-42 (CILD42) is an autosomal recessive disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by {1:Boon et al., 2014}).\n\nFor a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 ({244400}).",[618695],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16374,Active,Orphanet+OMIM,OMIM:618697,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 87 with choroidal involvement,,"Retinitis pigmentosa-87 with choroidal involvement (RP87) is characterized by a slowly progressive visual disturbance, including night blindness and reduced central and peripheral vision, accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected ({2:Hull et al., 2016}; {4:Li et al., 2019}).\n\nFor a discussion of genetic heterogeneity of RP, see {268000}.",[618697],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16375,Active,Orphanet+OMIM,OMIM:618752,Subtype of disorder,[Disease subtype],"Neutropenia, severe congenital, 8, autosomal dominant","[Neutropenia, severe congenital, 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities, shwachman-diamond syndrome-like]","Autosomal dominant severe congenital neutropenia-8 (SCN8) is a pleiotropic disorder with the consistent feature of decreased neutrophils associated with recurrent bacterial infections apparent from early infancy. Other hematologic parameters are usually normal, although some patients may have mild anemia. Bone marrow examination shows hypocellularity with arrested maturation of the granulocyte lineage at the level of promyelocytes or myeloblasts. Treatment with granulocyte colony-stimulating factor (GCSF; {138970}) is usually ineffective or only partially effective, whereas hematopoietic bone marrow transplantation is effective. A subset of patients have additional features, including exocrine pancreatic insufficiency, which resembles Shwachman-Diamond syndrome (see SDS1, {260400}), and/or neurologic deficits, including developmental delay, impaired intellectual development, speech delay, and/or autistic features (summary by {2:Carapito et al., 2017} and {1:Bellanne-Chantelot et al., 2018}).\n\nFor discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 ({202700}).",[618752],[486],[Autosomal dominant severe congenital neutropenia],[9558],,,,, +GARD:16376,Active,Orphanet+OMIM,OMIM:618763,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 36,,"Joubert syndrome-36 (JBTS36) is an autosomal recessive ciliopathy characterized by global developmental delay, ocular movement abnormalities, and mesoaxial polydactyly. Brain imaging may be normal or show the classic 'molar tooth sign.' There is some phenotypic similarity to and overlap with orofaciodigital syndrome VI (OFD6; {277170}) (summary by {1:Shaheen et al., 2019}).\n\nFor a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300}).",[618763],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:16377,Active,Orphanet+OMIM,OMIM:618775,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 10",,,[618775],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:16378,Active,Orphanet+OMIM,OMIM:618776,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 34",,,[618776],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16379,Active,Orphanet+OMIM,OMIM:618779,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 11,,"Coffin-Siris syndrome-11 (CSS11) is a syndromic neurodevelopmental disorder characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features. Most patients have distal anomalies, such as small hands and feet and hypoplastic fifth toenails (summary by {1:Nixon et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[618779],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:1638,Active,Orphanet,ORPHA:357058,Disorder,[Disease],Autosomal recessive cutis laxa type 2A,[ARCL2A],"A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.","[219200, 278250]",,,,,"Cutis laxa, autosomal recessive type 2A",TRUE,FALSE,Active +GARD:16380,Active,Orphanet+OMIM,OMIM:618781,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 44","[Ciliary dyskinesia, primary, 44, without situs inversus]","Primary ciliary dyskinesia-44 (CILD44) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder results in bronchiectasis. Although respiratory epithelial cell motile cilia are shorter than normal and overall ciliary motion is decreased, nasal nitric oxide, radial ciliary structure, and ciliary beat frequency are normal. In addition, patients do not have situs inversus (summary by {1:Chivukula et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[618781],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16381,Active,Orphanet+OMIM,OMIM:618786,Subtype of disorder,[Malformation syndrome subtype],Imagawa-matsumoto syndrome,,"Imagawa-Matsumoto syndrome (IMMAS) is characterized by variable pre- and postnatal overgrowth; dysmorphic features including postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge; and variable musculoskeletal abnormalities. Developmental delay and impaired intellectual development are common, whereas abnormalities of cerebral imaging are uncommon but may be significant. Some patients exhibit genitourinary abnormalities, and respiratory issues have been reported ({1:Cyrus et al., 2019}).",[618786],[3447],[Weaver syndrome],[7878],,,,, +GARD:16382,Active,Orphanet+OMIM,OMIM:618795,Subtype of disorder,[Disease subtype],Juvenile arthritis,,"Juvenile arthritis (JUVAR) is characterized by onset in early childhood of symmetric arthritis in multiple joints, associated with a marked increase in inflammatory markers. Some patients exhibit systemic symptoms, including quotidian fever, erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or splenomegaly. There is high clinical variability, even within the same family ({2:Karacan et al., 2018}).",[618795],[85414],[Systemic-onset juvenile idiopathic arthritis],[10966],,,,, +GARD:16383,Active,Orphanet+OMIM,OMIM:618801,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 45","[Ciliary dyskinesia, primary, 45, without situs inversus]","Primary ciliary dyskinesia-45 (CILD45) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder may result in bronchiectasis. Nasal nitric oxide may be decreased, but patients do not have situs abnormalities. Male patients have infertility due to immotile sperm (summary by {1:Thomas et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[618801],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16384,Active,Orphanet+OMIM,OMIM:618824,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, 8, autosomal recessive",,"Autosomal recessive idiopathic basal ganglia calcification-8 (IBGC8) is a progressive neurologic disorder with insidious onset of motor symptoms in adulthood. Affected individuals develop gait difficulties, parkinsonism, pyramidal signs, and dysarthria. Some may demonstrate cognitive decline or memory impairment. Brain imaging shows extensive calcifications in various brain regions including the basal ganglia, thalamus, and cerebellum. Because serum calcium and phosphate are normal, the disorder is thought to result from defects in the integrity of the neurovascular unit in the brain (summary by {2:Schottlaender et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600}).",[618824],[1980],[Bilateral striopallidodentate calcinosis],[6406],,,,, +GARD:16385,Active,Orphanet+OMIM,OMIM:618826,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 88,,"Retinitis pigmentosa-88 (RP88) is characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity. Examination shows typical findings of RP, including attenuated retinal vessels, pale optic discs, and pigment deposits in the peripheral retinal pigment epithelium ({4:Zobor et al., 2018}; {3:Hu et al., 2019}; {1:Albarry et al., 2019}).\n\nFor a discussion of genetic heterogeneity of RP, see {268000}.",[618826],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16386,Active,Orphanet+OMIM,OMIM:618840,Subtype of disorder,[Disease subtype],Alopecia-intellectual disability syndrome 4,[Alopecia-mental retardation syndrome 4],"Alopecia-intellectual disability syndrome-4 (APMR4) is characterized by alopecia universalis, scaly skin, and psychomotor retardation of varying degrees ({1:Besnard et al., 2019}).\n\nFor a discussion of genetic heterogeneity of alopecia-mental retardation syndrome, see APMR1 ({203650}).",[618840],[2850],[Alopecia-intellectual disability syndrome],[612],,,,, +GARD:16387,Active,Orphanet+OMIM,OMIM:618841,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 25 with anosmia,,"Hypogonadotropic hypogonadism-25 with anosmia (HH25) is characterized by delayed or absent puberty with low gonadotropic hormones in the setting of low testosterone or estradiol. Affected individuals also exhibit hyposmia or anosmia, with hypoplastic olfactory bulbs on MRI. Intrafamilial variable expressivity and incomplete penetrance has been observed ({1:Messina et al., 2020}).\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[618841],[478],[Kallmann syndrome],[10771],,,,, +GARD:16388,Active,Orphanet+OMIM,OMIM:618856,Subtype of disorder,[Disease subtype],"Diabetes mellitus, permanent neonatal, 2",,"Permanent neonatal diabetes mellitus-2 (PNDM2) is characterized by onset of insulin-requiring hyperglycemia within the first months of life that requires insulin therapy throughout life. Some patients additionally have marked developmental delay, muscle weakness, and epilepsy ({4:Gloyn et al., 2004}). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND ({10:Shimomura et al., 2007}).\n\n{9:Proks et al. (2006)} stated that heterozygous activating mutations in KCNJ11 are the most common cause of PNDM and account for 26 to 64% of cases, and that neurologic features are found in 20% of patients with KCNJ11 mutations.\n\nFor a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 ({606176}).",[618856],[99885],[Isolated permanent neonatal diabetes mellitus],[10457],,,,, +GARD:16389,Active,Orphanet+OMIM,OMIM:618857,Subtype of disorder,[Disease subtype],"Diabetes mellitus, permanent neonatal, 3",,"Permanent neonatal diabetes mellitus-3 (PNDM3) is characterized by the onset of mild to severe hyperglycemia within the first months of life, and requires lifelong therapy (summary by {1:Babenko et al., 2006}). Some patients also have neurologic features, including developmental delay and epilepsy ({3:Proks et al., 2006}; {1:Babenko et al., 2006}). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND.\n\nFor a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 ({606176}).",[618857],[99885],[Isolated permanent neonatal diabetes mellitus],[10457],,,,, +GARD:1639,Active,Orphanet,ORPHA:90348,Disorder,[Disease],Autosomal dominant cutis laxa,[ADCL],"A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.","[616603, 123700, 614434]",,,,,"Cutis laxa, autosomal dominant",TRUE,FALSE,Active +GARD:16390,Active,Orphanet+OMIM,OMIM:618858,Subtype of disorder,[Disease subtype],"Diabetes mellitus, permanent neonatal, 4",,"Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life (summary by {4:Polak et al., 2008}).\n\nFor a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 ({606176}).",[618858],[99885],[Isolated permanent neonatal diabetes mellitus],[10457],,,,, +GARD:16391,Active,Orphanet+OMIM,OMIM:618910,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 86,"[Epileptic encephalopathy, early infantile, 86]",,[618910],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16392,Active,Orphanet+OMIM,OMIM:618913,Subtype of disorder,[Disease subtype],Fanconi renotubular syndrome 5,"[Fanconi renotubular syndrome, acadian variant]","Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent ({1:Crocker et al., 1997} and {2:Hartmannova et al., 2016}).\n\nFor a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 ({134600}).",[618913],[3337],[Primary Fanconi renotubular syndrome],[9118],,,,, +GARD:16393,Active,Orphanet+OMIM,OMIM:618916,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 87,"[Epileptic encephalopathy, early infantile, 87]","Developmental and epileptic encephalopathy-87 (DEE87) is a neurologic disorder characterized by global developmental delay, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age. Affected individuals have severely impaired motor and cognitive development with little or absent speech and poor visual tracking. More variable features include facial dysmorphisms, joint laxity, and nonspecific brain imaging findings (summary by {1:Chung et al., 2020}).",[618916],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16394,Active,Orphanet+OMIM,OMIM:618918,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 9,,"Periventricular nodular heterotopia-9 (PVNH9) is an autosomal dominant neurologic disorder characterized as a malformation of cortical development. Anterior predominant PVNH, thin corpus callosum, and decreased white matter volume are found on brain imaging, but the clinical effects are variable. Most patients have impaired intellectual development and cognitive defects associated with low IQ (range 50 to 80), learning disabilities, and behavior abnormalities. Some patients develop seizures that tend to have a focal origin. However, some mutation carriers may be less severely affected with borderline or even normal IQ, suggesting incomplete penetrance of the phenotype (summary by {1:Heinzen et al., 2018}, {3:Walters et al., 2018}).\n\nFor a discussion of genetic heterogeneity of periventricular nodular heterotopia, see {300049}.",[618918],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:16395,Active,Orphanet+OMIM,OMIM:618935,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 5","[Granulomatous disease, chronic, due to cybc1 deficiency]","Autosomal recessive chronic granulomatous disease-5 (CGD5) is a primary immunodeficiency characterized by onset of recurrent infections and severe colitis in the first decade of life. Patients often present with features of inflammatory bowel disease and may show granulomata on biopsy. Patients are particularly susceptible to catalase-positive organisms, including Burkholderia cepacia, Legionella, and Candida albicans. Some patients may develop autoinflammatory symptoms, including recurrent fever in the absence of infection, hemolytic anemia, and lymphopenia. Additional features may include short stature, viral infections, cutaneous abscesses, pulmonary infections, and lymphadenitis. Hematopoietic bone marrow transplant is curative. The disorder results from impaired oxidative burst via the NAPDH oxidative complex in macrophages and neutrophils (summary by {1:Arnadottir et al., 2018} and {3:Thomas et al., 2019}).\n\nFor a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; {306400}).",[618935],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:16396,Active,Orphanet+OMIM,OMIM:618939,Subtype of disorder,[Malformation syndrome subtype],Treacher collins syndrome 4,,"Treacher Collins syndrome-4 (TCS4) is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia. Most patients have conductive deafness with atretic external ear canals. Choanal atresia and cleft palate have also been observed ({1:Sanchez et al., 2020}).",[618939],[861],[Treacher-Collins syndrome],[9124],,,,, +GARD:16397,Active,Orphanet+OMIM,OMIM:618940,Subtype of disorder,[Disease subtype],Oculopharyngodistal myopathy 2,,"Oculopharyngodistal myopathy-2 (OPDM2) is an autosomal dominant muscle disorder characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. The disorder is slowly progressive, and patients develop facial weakness, bulbar weakness, and difficulty walking or climbing stairs. Some patients may have upper limb involvement and subclinical respiratory insufficiency. Laboratory studies show increased serum creatine kinase; skeletal muscle biopsy shows myopathic changes with abnormal cytoplasmic and intranuclear inclusions (summary by {1:Deng et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OPDM, see OPDM1 ({164310}).",[618940],[98897],[Oculopharyngodistal myopathy],[12592],,,,, +GARD:16398,Active,Orphanet+OMIM,OMIM:618959,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 88,"[Epileptic encephalopathy, early infantile, 88]","Developmental and epileptic encephalopathy-88 (DEE88) is an autosomal recessive severe neurologic disorder characterized by global developmental delay, early-onset epilepsy, and progressive microcephaly. Brain MRI findings may include corpus callosum abnormalities, prominent ventricles, and mild hypoplasia of the inferior vermis and pons ({1:Broeks et al., 2019}).\n\nFor a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}.",[618959],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16399,Active,Orphanet+OMIM,OMIM:618977,Subtype of disorder,[Disease subtype],Optic atrophy 12,,"Optic atrophy-12 (OPA12) is an autosomal dominant neurologic disorder characterized by slowly progressive visual impairment with onset usually in the first decade, although later onset has been reported. Affected individuals have impaired color vision, photophobia, pale optic discs, optic nerve atrophy, and decreased thickness of the retinal nerve fiber layer. Some patients may exhibit additional neurologic features, including impaired intellectual development, dystonia, movement disorders, or ataxia (summary by {2:Caporali et al., 2020}).\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[618977],[98673],"[Autosomal dominant optic atrophy, classic form]",[9890],,,,, +GARD:164,Legacy,GARD,,,,,,,,,,,,"Sclerocornea, Syndactyly, ambiguous genitalia",TRUE,FALSE,Retired +GARD:16400,Active,Orphanet+OMIM,OMIM:618998,Subtype of disorder,[Disease subtype],Immune dysregulation and systemic hyperinflammation syndrome,"[Hemophagocytic lymphohistiocytosis, familial, 6, formerly]","Immune dysregulation and systemic hyperinflammation syndrome (IMDYSHI) is an autosomal recessive immunologic disorder characterized by systemic hyperinflammation in the absence of an infectious agent or autoimmune trigger. Features include lymphadenopathy, hepatosplenomegaly, recurrent fever, and laboratory evidence of immune dysregulation with abnormal immune cell populations and increased serum levels of inflammatory cytokines. The phenotype is reminiscent of relapsing hemophagocytic lymphohistiocytosis (HLH; see FHL1, {267700}) (summary by {1:Tavernier et al., 2019}).",[618998],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,,,, +GARD:16401,Active,Orphanet+OMIM,OMIM:619003,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 35",,,[619003],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16402,Active,Orphanet+OMIM,OMIM:619016,Subtype of disorder,[Disease subtype],Ifap syndrome 2,"[Ichthyosis follicularis, atrichia, and photophobia syndrome 2]","Follicular ichthyosis, atrichia, and photophobia syndrome-2 (IFAP2) is characterized by ichthyosis follicularis or follicular hyperkeratosis, sparse to no body hair, and photophobia with corneal lesions. Ultrastructural hair analysis shows trichorrhexis nodosa ({1:Wang et al., 2020}).\n\nFor a discussion of genetic heterogeneity of IFAP syndrome, see IFAP1 ({308205}).",[619016],[2273],[Ichthyosis follicularis-alopecia-photophobia syndrome],[2952],,,,, +GARD:16403,Active,Orphanet+OMIM,OMIM:619028,Subtype of disorder,[Disease subtype],"Coenzyme q10 deficiency, primary, 9",,"Coenzyme Q10 deficiency-9 (COQ10D9) is an autosomal recessive disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in the first decade of life. Some patients may have additional neurologic signs and symptoms, including intellectual disability and seizures. Treatment with CoQ10 may offer clinical benefit (summary by {1:Malicdan et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 ({607426}).",[619028],[139485],[Autosomal recessive ataxia due to ubiquinone deficiency],[10294],,,,, +GARD:16404,Active,Orphanet+OMIM,OMIM:619046,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 3",,"Mitochondrial complex IV deficiency nuclear type 3 (MC4DN3) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present with encephalomyopathic features in early infancy, whereas others may present later in infancy or the first years of life after normal early development. Affected individuals show hypotonia, failure to thrive, and developmental delay or regression with poor eye contact and loss of motor skills with ataxia. Additional features observed in some patients include proximal renal tubulopathy, macrocytic anemia, sensorineural hearing loss, nystagmus, and hypertrophic cardiomyopathy, consistent with systemic involvement. Brain imaging in most patients shows lesions consistent with Leigh syndrome (see {256000}). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV. Most patients die in infancy (summary by {3:Valnot et al., 2000} and {1:Antonicka et al., 2003}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619046],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16405,Active,Orphanet+OMIM,OMIM:619048,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 4",,"Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and neurologic distress. Additional features include hepatomegaly, hepatic steatosis, increased serum lactate, and metabolic acidosis. Some patients may develop hypertrophic cardiomyopathy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death usually occurs in infancy (summary by {2:Valnot et al., 2000} and {1:Stiburek et al., 2009}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619048],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16406,Active,Orphanet+OMIM,OMIM:619051,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 7",,"Mitochondrial complex IV deficiency nuclear type 7 (MC4DN7) is an autosomal recessive metabolic encephalomyopathic disorder with highly variable manifestations. Only a few patients have been reported. Some patients have normal early development then show rapid neurodegeneration with progressive muscle weakness, gait disturbances, and cognitive decline in mid to late childhood. Other features may include seizures and visual impairment. Brain imaging shows progressive leukodystrophy with cystic lesions. In contrast, at least 1 patient has been reported who presented in the neonatal period with metabolic acidosis, hydrocephalus, hypotonia, and cortical blindness. This patient developed hypertrophic cardiomyopathy resulting in early death. All patients had increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by {2:Massa et al., 2008} and {1:Abdulhag et al., 2015}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619051],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16407,Active,Orphanet+OMIM,OMIM:619052,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 8",,"Mitochondrial complex IV deficiency nuclear type 8 (MC4DN8) is an autosomal recessive metabolic disorder characterized by the onset of neuromuscular symptoms in the first decade of life after normal early development. Affected individuals develop a slowly progressive decline in neurologic function with gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability. Other features may include facial hypotonia, optic atrophy with visual impairment, nystagmus, muscle rigidity, and loss of ambulation. Rare patients may have renal tubulopathy. Brain imaging shows T2-weighted hyperintensities in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Serum lactate is often increased, and patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by {2:Seeger et al., 2010}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619052],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16408,Active,Orphanet+OMIM,OMIM:619053,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 10",,"Mitochondrial complex IV deficiency nuclear type 10 (MC4DN10) is an autosomal recessive multisystem metabolic disorder characterized by the onset of severe symptoms soon after birth. Affected infants have respiratory and neurologic distress, metabolic lactic acidosis, and dysmorphic features, including microphthalmia. Death occurs in early infancy. Postmortem examination has demonstrated systemic involvement with hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. There is also abnormal brain myelination and cavitating brain lesions. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Weraarpachai et al., 2012}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619053],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16409,Active,Orphanet+OMIM,OMIM:619054,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 11",,"Mitochondrial complex IV deficiency nuclear type 11 (MC4DN11) is an autosomal recessive metabolic disorder characterized by a childhood-onset sensory neuronopathy and additional features which may include hypotonia, cerebellar ataxia, tremor, dystonia, choreoathetosis, and/or dysarthria. Patients may have variable motor delay, speech delay, or impaired intellectual development (summary by {2:Doss et al., 2014}; {3:Otero et al., 2019}; {5:Xu et al., 2019}; {1:Dong et al., 2021}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619054],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:1641,Active,Orphanet,ORPHA:357064,Disorder,[Disease],Autosomal recessive cutis laxa type 2B,"[ARCL2, progeroid type, ARCL2B, Autosomal recessive cutis laxa type 2, progeroid type]","A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.",[612940],,,,,"Cutis laxa, autosomal recessive type 2B",TRUE,FALSE,Active +GARD:16410,Active,Orphanet+OMIM,OMIM:619055,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 12",,"Mitochondrial complex IV deficiency nuclear type 12 (MC4DN12) is an autosomal recessive metabolic disorder characterized by the onset of neurologic dysfunction in early infancy. Affected individuals demonstrate hypotonia with poor head control, profoundly delayed global development with inability to fix and follow, poor overall growth, abnormal spasms or myoclonus, and seizures. Most patients die in the first years of life; those that survive have spastic quadriplegia, feeding difficulties necessitating tube feeding, and profoundly impaired intellectual development with poor or absent communication. More variable features include cortical blindness, nystagmus, scoliosis, and hearing impairment. Brain imaging shows abnormalities consistent with Leigh syndrome (see {256000}), as well as cystic cavitation. Laboratory studies show lactic acidosis, increased serum creatine kinase, and decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Lim et al., 2014}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619055],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16411,Active,Orphanet+OMIM,OMIM:619058,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 14",,"Mitochondrial complex IV deficiency nuclear type 14 (MC4DN14) is an autosomal recessive metabolic disorder characterized by global developmental delay, exercise intolerance, walking difficulties, impaired intellectual development, short stature, mild dysmorphic features, and sensorimotor peripheral neuropathy. Patient skeletal muscle tissue shows decreased levels and activity of mitochondrial respiratory complex IV ({1:Ostergaard et al., 2015}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619058],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16412,Active,Orphanet+OMIM,OMIM:619059,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 15",,"Mitochondrial complex IV deficiency nuclear type 15 (MC4DN15) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show global developmental delay, poor feeding, short stature with microcephaly, proximal muscle weakness, and distal spasticity. Other manifestations include scoliosis, primary pulmonary hypertension, childhood-onset refractory seizures, and inability to walk. Brain imaging shows features consistent with Leigh syndrome (see {256000}) and enlarged ventricles. Laboratory studies show increased serum and CSF lactate, as well as decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Hallmann et al., 2016}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619059],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16413,Active,Orphanet+OMIM,OMIM:619060,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 16",,"Mitochondrial complex IV deficiency nuclear type 16 (MC4DN16) is an autosomal recessive metabolic disorder with highly variable manifestations. Common features include failure to thrive with poor overall growth, short stature, and microcephaly. Some patients additionally have neurologic involvement, including developmental regression with severe hypotonia, feeding difficulties, and seizures. Brain imaging in the more severely affected patients shows cerebral and cerebellar atrophy and abnormal lesions in the basal ganglia. In all cases, patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (summary by {2:Pillai et al., 2019}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619060],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16414,Active,Orphanet+OMIM,OMIM:619061,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 17",,"Mitochondrial complex IV deficiency nuclear type 17 (MC4DN17) is an autosomal recessive neurometabolic disorder with somewhat variable clinical manifestations and severity. Most affected individuals present in early childhood with motor and gait difficulties after normal early development. These motor abnormalities progress to spastic tetraparesis, sometimes resulting in loss of ambulation. Many patients also show episodic developmental regression: some have impaired cognition and dysarthria, although others have normal speech and cognition. More variable features include seizures and sensorimotor polyneuropathy. The clinical features tend to stabilize over time. Brain imaging shows a cavitating leukodystrophy, and laboratory studies show variably decreased levels and activity of mitochondrial respiratory complex IV in patient tissues ({1:Melchionda et al., 2014}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619061],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16415,Active,Orphanet+OMIM,OMIM:619062,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 18",,"Mitochondrial complex IV deficiency nuclear type 18 (MC4DN18) is an autosomal recessive metabolic disorder that primarily affects skeletal muscle tissue. Affected individuals present in infancy with hypotonia, limb muscle weakness, and high-arched palate. The severity of the disorder is variable: some patients may only have gait difficulties, whereas others may also have significant respiratory insufficiency and cardiomyopathy. Death in infancy has been reported. Patient skeletal muscle shows decreased levels and activity of mitochondrial respiratory complex IV ({1:Inoue et al., 2019}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619062],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16416,Active,Orphanet+OMIM,OMIM:619063,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 19",,"Mitochondrial complex IV deficiency nuclear type 19 (MC4DN19) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy. Serum lactate is increased; T2-weighted lesions in the medulla oblongata have also been reported. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV ({1:Renkema et al., 2017}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619063],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16417,Active,Orphanet+OMIM,OMIM:619064,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 20",,"Mitochondrial complex IV deficiency nuclear type 20 (MC4DN20) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and global developmental delay. Additional features include elevated liver enzymes, increased serum lactate, metabolic acidosis, and pulmonary arterial hypertension (PAH), which may result in cardiorespiratory failure and early death. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV ({1:Baertling et al., 2017}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619064],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16418,Active,Orphanet+OMIM,OMIM:619065,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 21",,"Mitochondrial complex IV deficiency nuclear type 21 (MC4DN21) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals present with congenital lactic acidosis and later show global developmental delay with delayed speech and learning disabilities. Additional features include motor dysfunction manifest as spasticity, dystonia, and pyramidal tract signs. Ataxia, peripheral neuropathy, and seizures may also occur. Brain imaging shows T2-weighted hyperintensities in subcortical regions, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV ({1:Pitceathly et al., 2013}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619065],[70472],"[Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type]",[8370],,,,, +GARD:16419,Active,Orphanet+OMIM,OMIM:619087,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 13,,"Noonan syndrome-13 (NS13) is a neurodevelopmental disorder characterized by developmental delay and impaired intellectual development of variable severity, associated with behavioral problems. Affected individuals also exhibit reduced postnatal growth and craniofacial anomalies, including ptosis, hypertelorism, low-set posteriorly rotated ears, and short webbed neck. Other features include congenital heart defects and mild skeletal defects ({1:Motta et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[619087],[648],[Noonan syndrome],[10955],,,,, +GARD:16420,Active,Orphanet+OMIM,OMIM:619108,Subtype of disorder,[Disease subtype],Spermatogenic failure 48,,"Spermatogenic failure-48 (SPGF48) is characterized by male infertility due to a variable spectrum of severely impaired spermatogenesis, primarily at meiosis and resulting in azoospermia. However, sparse postmeiotic germ cell development and retrieval of sperm in some cases has been reported ({2:Wyrwoll et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see {258150}.",[619108],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16421,Active,Orphanet+OMIM,OMIM:619110,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, distal, type 1c",,"Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. Contractures involving the proximal joints appear to be more common in MYLPF-associated DA than in other forms of DA, and segmental amyoplasia has been observed ({1:Chong et al., 2020}).",[619110],[1146],[Distal arthrogryposis type 1],[787],,,,, +GARD:16422,Active,Orphanet+OMIM,OMIM:619111,Subtype of disorder,[Disease subtype],Coach syndrome 2,,"COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis ({3:Verloes and Lambotte, 1989}). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by {1:Doherty et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see {216360}.",[619111],[1454],[Joubert syndrome with hepatic defect],[1410],,,,, +GARD:16423,Active,Orphanet+OMIM,OMIM:619113,Subtype of disorder,[Disease subtype],Coach syndrome 3,,"COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis ({2:Verloes and Lambotte, 1989}). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by {1:Doherty et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see {216360}.",[619113],[1454],[Joubert syndrome with hepatic defect],[1410],,,,, +GARD:16424,Active,Orphanet+OMIM,OMIM:619124,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 89,,"Developmental and epileptic encephalopathy-89 (DEE89) is a severe autosomal recessive disorder characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. EEG shows suppression-burst pattern or hypsarrhythmia, consistent with DEE or a clinical diagnosis of West syndrome. More variable features include joint contractures with foot deformities, dysmorphic facial features with cleft palate, and omphalocele. Affected individuals have poor motor skills, poor eye contact, and lack of language development; some die in infancy or early childhood. Brain imaging may be normal or show nonspecific abnormalities (summary by {2:Chatron et al., 2020}).",[619124],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16425,Active,Orphanet+OMIM,OMIM:619133,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia,,"Amyotrophic lateral sclerosis-26 with or without frontotemporal dementia (ALS26) is an autosomal dominant neurodegenerative disorder characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness (ALS). Patients may also develop frontotemporal dementia (FTD) manifest as primary progressive aphasia, memory impairment, executive dysfunction, and behavioral or personality changes. Although patients may present with 1 or the other diseases, all eventually develop ALS. Neuropathologic studies of the brain and spinal cord show TDP43 ({605078})-immunoreactive cytoplasmic inclusions that correlate with clinical features and Lewy body-like cytoplasmic inclusions in lower motor neurons (summary by {2:Mackenzie et al., 2017}).\n\nFor a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400}).",[619133],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,,,, +GARD:16426,Active,Orphanet+OMIM,OMIM:619135,Subtype of disorder,[Malformation syndrome subtype],Ritscher-schinzel syndrome 3,,"Ritscher-Schinzel syndrome-3 (RTSC3) is characterized by craniocerebellocardiac anomalies and severe postnatal growth restriction, as well as complicated skeletal malformations, including vertebral body hypoossification, sternal aplasia, and chondrodysplasia punctata. Other features include developmental delay, ocular anomalies, periventricular nodular heterotopia, and proteinuria ({1:Kato et al., 2020}).\n\nFor a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 ({220210}).",[619135],[7],[3C syndrome],[5666],,,,, +GARD:16427,Active,Orphanet+OMIM,OMIM:619141,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 5,,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-5 (FTDALS5) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD symptoms in adulthood. The disease is progressive, and some patients may develop both diseases, although ALS seems to be more prevalent than FTD. The disorder usually results in premature death (summary by {1:Williams et al., 2016}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[619141],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,,,, +GARD:16428,Active,Orphanet+OMIM,OMIM:619155,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 22",,"Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant ({1:Majmundar et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[619155],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16429,Active,Orphanet+OMIM,OMIM:619166,Subtype of disorder,[Disease subtype],"Mitochondrial complex ii deficiency, nuclear type 2",,"Mitochondrial complex II deficiency nuclear type 2 (MC2DN2) is an autosomal recessive multisystemic metabolic disorder with variable severity and features. Most patients present with neurologic deterioration in infancy or early childhood after normal early development. Features include loss of motor skills, spastic paresis, dystonia, and loss of speech associated with increased serum and CSF lactate. Some patients may have mental decline or visual loss. Skeletal muscle samples show isolated complex II deficiency, and proton MRS shows increased succinate levels in the CSF and brain white matter. Brain imaging usually shows progressive leukoencephalopathy. Although the pattern of brain involvement may not be characteristic of Leigh syndrome (see {256000}), postmortem examination in 1 patient showed multifocal spongiform encephalomyelopathy consistent with a diagnosis of Leigh syndrome. The most severely affected patients die of multiorgan failure and lactic acidosis, whereas others who survive may stabilize and regain some skills. Treatment with riboflavin may offer clinical improvement (summary by {1:Brockmann et al., 2002} and {2:Bugiani et al., 2006}).\n\nFor a discussion of genetic heterogeneity of MC2DN, see MC2DN1 ({252011}).",[619166],[3208],[Isolated succinate-CoQ reductase deficiency],[5053],,,,, +GARD:1643,Active,Orphanet,ORPHA:671,Group of disorders,[Clinical group],Primary cutis verticis gyrata,,"A progressive cutaneous disorder predominantly affecting males, characterized by hypertrophy and thickening of the skin of the scalp, forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. It can be isolated or associated with other abnormalities, such as intellectual deficit, epilepsy, cataract, blindness, and deafness.",,,,,,Cutis verticis gyrata,TRUE,FALSE,Active +GARD:16430,Active,Orphanet+OMIM,OMIM:619167,Subtype of disorder,[Disease subtype],"Mitochondrial complex ii deficiency, nuclear type 3",,"Mitochondrial complex II deficiency nuclear type 3 (MC2DN3) is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients may have an encephalomyopathic picture with episodic developmental regression, loss of motor skills, hypotonia, ataxia, dystonia, and seizures or myoclonus. Other patients present in infancy with hypertrophic cardiomyopathy, which may be fatal. Laboratory studies show increased serum lactate and mitochondrial complex II deficiency in muscle and fibroblasts (summary by {2:Jackson et al., 2014} and {1:Alston et al., 2015}).\n\nFor a discussion of genetic heterogeneity of MC2DN, see MC2DN1 ({252011}).",[619167],[3208],[Isolated succinate-CoQ reductase deficiency],[5053],,,,, +GARD:16431,Active,Orphanet+OMIM,OMIM:619170,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 36",,"Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Patient tissue showed isolated mitochondrial complex I deficiency. Death may occur in childhood ({1:Alahmad et al., 2020}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see {252010}.",[619170],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16432,Active,Orphanet+OMIM,OMIM:619179,Subtype of disorder,[Etiological subtype],"Microcephaly 26, primary, autosomal dominant",,"Autosomal dominant primary microcephaly-26 (MCPH26) is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development. Some patients may have only mild learning difficulties or speech delay, whereas other are more severely affected with the inability to walk or speak. Additional features may include short stature, spasticity, feeding difficulties requiring tube feeding, and nonspecific dysmorphic facial features. Brain imaging in some patients shows a simplified gyral pattern or dysgenesis of the corpus callosum, suggesting abnormal neuronal migration (summary by {1:Cristofoli et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[619179],[2514],[Autosomal dominant primary microcephaly],[3605],,,,, +GARD:16433,Active,Orphanet+OMIM,OMIM:619180,Subtype of disorder,[Etiological subtype],"Microcephaly 27, primary, autosomal dominant",,"Autosomal dominant primary microcephaly-27 (MCPH27) is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Most patients have variable and nonspecific additional features, including facial dysmorphism, hypotonia, limb hypertonia, poor feeding, and distal skeletal anomalies. Brain imaging may show enlarged ventricles or gyral abnormalities, but most have normal imaging ({1:Parry et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[619180],[2514],[Autosomal dominant primary microcephaly],[3605],,,,, +GARD:16434,Active,Orphanet+OMIM,OMIM:619185,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 37,,"Joubert syndrome-37 (JBTS37) is an autosomal recessive neurodevelopmental ciliopathy characterized classically by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging. Affected individuals have hypotonia, ataxia, and variably impaired intellectual development. Additional variable features, such as postaxial polydactyly, liver or kidney anomalies, retinal dystrophy, and coloboma, may also occur. In severe cases, affected fetuses with these malformations may be terminated (summary by {2:Latour et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300}).",[619185],[475],[Joubert syndrome],[6802],,,,, +GARD:16435,Active,Orphanet+OMIM,OMIM:619201,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 23",,"Nephrotic syndrome type 23 (NPHS23) is an autosomal recessive renal disorder characterized by the onset of proteinuria in the first or second decade of life. The outcome is variable: some patients have normal renal function after many years, whereas others may progress to chronic kidney disease. Renal biopsy shows mesangial hypercellularity, consistent with minimal change disease, focal segmental glomerulosclerosis, and effacement of podocyte foot processes (summary by {2:Solanki et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300}).",[619201],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16436,Active,Orphanet+OMIM,OMIM:619202,Subtype of disorder,[Disease subtype],Spermatogenic failure 52,,"Spermatogenic failure-52 (SPGF52) is characterized by azoospermic infertility resulting from meiotic arrest at the spermatocyte stage ({1:Fan et al., 2021}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[619202],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16437,Active,Orphanet+OMIM,OMIM:619208,Subtype of disorder,[Disease subtype],Olmsted syndrome 2,"[Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2]","Olmsted syndrome-2 (OLMS2) is characterized by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair ({2:Duchatelet et al., 2019}). Some patients may experience flexion contractures of the digits due to the severity of the keratoderma, and intractable pruritus as well as alopecia universalis have been observed ({1:Dai et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Olmsted disease, see OLMS1 ({614594}).",[619208],[659],[Mutilating palmoplantar keratoderma with periorificial keratotic plaques],[4075],,,,, +GARD:16438,Active,Orphanet+OMIM,OMIM:619224,Subtype of disorder,[Disease subtype],"Mitochondrial complex ii deficiency, nuclear type 4",,Mitochondrial complex II deficiency nuclear type 4 (MC2DN4) is a severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Acute episodes of neurodegeneration are often triggered by catabolic stress such as infection or fasting.,[619224],[3208],[Isolated succinate-CoQ reductase deficiency],[5053],,,,, +GARD:16439,Active,Orphanet+OMIM,OMIM:619267,Subtype of disorder,[Disease subtype],Glanzmann thrombasthenia 2,"[Bleeding disorder, platelet-type, 23]","Glanzmann thrombasthenia-2 (GT2) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb ({607759})/IIIa platelet surface fibrinogen receptor complex resulting from mutations in the GPIIIa gene ({7:Rosenberg et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Glanzmann thrombasthenia, see {273800}.",[619267],[849],[Glanzmann thrombasthenia],[2478],,,,, +GARD:1644,Legacy,GARD,,,,,,,,,,,,Cutis verticis gyrata mental deficiency,TRUE,FALSE,Active +GARD:16440,Active,Orphanet+OMIM,OMIM:619272,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 37",,,[619272],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16441,Active,Orphanet+OMIM,OMIM:619303,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1e",,"Pontocerebellar hypoplasia type 1E (PCH1E) is an autosomal recessive neurologic disorder characterized by severe hypotonia and respiratory insufficiency apparent soon after birth. Virtually all patients die in the first days or weeks of life. Postmortem examination and brain imaging show pontocerebellar atrophy and loss of anterior motor neurons in the spinal cord. Additional more variable features may include optic atrophy, peripheral neuropathy, dysmorphic features, congenital contracture or foot deformities, and seizures (summary by {3:Braunisch et al., 2018}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[619303],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:16442,Active,Orphanet+OMIM,OMIM:619304,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1f",,"Pontocerebellar hypoplasia type 1F (PCH1F) is an autosomal recessive neurologic disorder characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features. Brain imaging shows pontocerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and delayed myelination (summary by {1:Somashekar et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[619304],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:16443,Active,Orphanet+OMIM,OMIM:619325,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 12,,"Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS ({1:Barish et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[619325],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16444,Active,Orphanet+OMIM,OMIM:619339,Subtype of disorder,[Malformation syndrome subtype],Bartsocas-papas syndrome 2,"[Popliteal pterygium syndrome, bartsocas-papas type 2]","Bartsocas-Papas syndrome-2 (BPS2) is a severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations (summary by {1:Leslie et al., 2015}).",[619339],[1234],[Bartsocas-Papas syndrome],[4436],,,,, +GARD:16445,Active,Orphanet+OMIM,OMIM:619340,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 96,,"Developmental and epileptic encephalopathy-96 (DEE96) is characterized by onset of seizures in the first days or weeks of life. Affected infants have tonic or myoclonic seizures associated with burst-suppression pattern on EEG. They also have hypotonia with respiratory insufficiency that may result in premature death. Those that survive have profound developmental delay and persistent seizures (summary by {2:Suzuki et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[619340],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16446,Active,Orphanet+OMIM,OMIM:619350,Subtype of disorder,[Disease subtype],Visceral myopathy 2,,"Visceral myopathy-2 (VSCM2) is characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Some patients exhibit predominantly esophageal symptoms, with hiatal hernia and severe reflux resulting in esophagitis and stricture, whereas others experience chronic intestinal pseudoobstruction. Bladder involvement resulting in megacystis and megaureter has also been observed and may be evident at birth ({1:Dong et al., 2019}; {2:Gilbert et al. (2020)}).",[619350],[2604],[Familial visceral myopathy],[3443],,,,, +GARD:16447,Active,Orphanet+OMIM,OMIM:619351,Subtype of disorder,[Malformation syndrome subtype],Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,,"Megacystis-microcolon-intestinal hypoperistalsis syndrome-2 (MMIHS2) is characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure (summary by {4:Wang et al., 2019}).\n\nFor a discussion of genetic heterogeneity of MMIHS, see {249210}.",[619351],[2241],[Megacystis-microcolon-intestinal hypoperistalsis syndrome],[3442],,,,, +GARD:16448,Active,Orphanet+OMIM,OMIM:619355,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 22",,"Mitochondrial complex IV deficiency nuclear type 22 (MC4DN22) is an autosomal recessive metabolic disorder characterized by neonatal hypertrophic cardiomyopathy, encephalopathy, and severe lactic acidosis with fatal outcome ({1:Wintjes et al., 2021}).",[619355],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16449,Active,Orphanet+OMIM,OMIM:613093,Subtype of disorder,[Disease subtype],Cone dystrophy 4,,"Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (COD) and complete and incomplete achromatopsia (ACHM). Impairment or death of cone photoreceptor cells is the clinical hallmark of these disorders. COD is a progressive cone disorder in which patients may initially have normal cone function but develop progressive visual acuity loss, increasing photophobia, color vision disturbances, and diminished cone responses on ERG, usually in the first or second decade of life. The visual acuity of these patients generally worsens to legal blindness before the fourth decade of life. ACHM is a stationary congenital autosomal recessive cone disorder characterized by low visual acuity, photophobia, nystagmus, and severe color vision defects. Patients with the complete ACHM subtype have no cone function on electroretinography, whereas those with incomplete ACHM show residual cone function (summary by {2:Thiadens et al., 2009}).",[613093],[1871],[Progressive cone dystrophy],[11897],,,,, +GARD:16450,Active,Orphanet+OMIM,OMIM:158350,Subtype of disorder,[Disease subtype],Cowden syndrome 1,"[ruvalcaba-myhre-smith syndrome, macrocephaly, multiple lipomas, and hemangiomata, bannayan-riley-ruvalcaba syndrome, multiple hamartoma syndrome, riley-smith syndrome, pten hamartoma tumor syndrome with granular cell tumor, macrocephaly, pseudopapilledema, and multiple hemangiomata, Cs, bannayan-zonana syndrome, pten hamartoma tumor syndrome]","Cowden syndrome-1 is a hamartomatous disorder characterized by macrocephaly, facial trichilemmomas, acral keratoses, papillomatous papules, and an increased risk for the development of breast, thyroid, and endometrial carcinoma. Bannayan-Riley-Ruvalcaba syndrome (BRRS), previously thought be distinct, shared clinical characteristics with Cowden syndrome, such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms, but had the additional features of developmental delay, macrocephaly, lipomas, hemangiomas, and pigmented speckled macules of the glans penis in males. Because features of BRRS and Cowden syndrome have been found in individuals within the same family with the same PTEN mutation, Cowden syndrome-1 and BRRS are considered to be the same disorder with variable expression and age-related penetrance (summary by {59:Marsh et al., 1999}, {48:Lachlan et al., 2007}, and {9:Blumenthal and Dennis, 2008}).\n\nApproximately 80% of patients reported with Cowden syndrome and 60% with BRSS have PTEN mutations ({9:Blumenthal and Dennis, 2008}).\n\nSome patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by {11:Browning et al., 2015}).",[158350],[201],[Cowden syndrome],[6202],,,,, +GARD:16451,Active,Orphanet+OMIM,OMIM:251450,Subtype of disorder,[Malformation syndrome subtype],Desbuquois dysplasia 1,"[micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification, Desbuquois syndrome]","Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by {15:Huber et al., 2009}).\n\nDesbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints ({9:Faivre et al., 2004}). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD ({13:Furuichi et al., 2011}). In addition, {16:Kim et al. (2010)} described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD ({13:Furuichi et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Desbuquois Dysplasia\n\nDBQD2 ({615777}) is caused by mutation in the XYLT1 gene ({608124}) on chromosome 16p12.\n\nTwo unrelated patients with immunodeficiency-23 (IMD23; {615816}), due to mutation in the PGM3 gene ({172100}), were reported to have skeletal features reminiscent of DBQD.",[251450],[1425],[Desbuquois syndrome],[1818],,,,, +GARD:16452,Active,Orphanet+OMIM,OMIM:278730,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group d","[Xp, group d, xp, group h, formerly, xeroderma pigmentosum iv, xp4 xeroderma pigmentosum viii, formerly]","Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by {3:Flejter et al., 1992}).",[278730],"[220295, 910]","[Xeroderma pigmentosum, Xeroderma pigmentosum-Cockayne syndrome complex]","[7910, 17130]",,,,, +GARD:16453,Active,Orphanet+OMIM,OMIM:611944,Subtype of disorder,[Disease subtype],Lymphatic malformation 2,,"Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {2:Gordon et al., 2013} and {1:Balboa-Beltran et al., 2014}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see {153100}.",[611944],[79452],[Milroy disease],[7220],,,,, +GARD:16454,Active,Orphanet+OMIM,OMIM:612580,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 3","[Mental retardation, autosomal dominant 3]",,[612580],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16455,Active,Orphanet+OMIM,OMIM:612581,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 4",,,[612581],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16456,Active,Orphanet+OMIM,OMIM:613480,Subtype of disorder,[Disease subtype],Lymphatic malformation 3,"[Lymphedema, hereditary, ic, formerly]","Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {3:Gordon et al., 2013} and {1:Balboa-Beltran et al., 2014}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see {153100}.",[613480],[79452],[Milroy disease],[7220],,,,, +GARD:16457,Active,Orphanet+OMIM,OMIM:613943,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 8","[Lamellar ichthyosis, late-onset, ichthyosis, lamellar, 4, formerly]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {4:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({7:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {3:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[613943],[313],[Lamellar ichthyosis],[10803],,,,, +GARD:16458,Active,Orphanet+OMIM,OMIM:614113,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 2",,,[614113],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16459,Active,Orphanet+OMIM,OMIM:614255,Subtype of disorder,[Etiological subtype],Nescav syndrome,"[Neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment, mental retardation, autosomal dominant 9, formerly]","NESCAV syndrome (NESCAVS) is a neurodegenerative disorder characterized by onset of features in infancy or early childhood. Affected individuals show global developmental delay with delayed walking or difficulty walking due to progressive spasticity mainly affecting the lower limbs and often leading to loss of independent ambulation. There is variably impaired intellectual development, speech delay, and learning disabilities and/or behavioral abnormalities. Additional features may include cortical visual impairment, often associated with optic atrophy, axonal peripheral neuropathy, seizures, dysautonomia, ataxia, and dystonia. Brain imaging often shows progressive cerebellar atrophy and thin corpus callosum. Some patients may show developmental regression, particularly of motor skills. The phenotype and presentation are highly variable (summary by {6:Nemani et al., 2020}).",[614255],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:1646,Active,Orphanet,ORPHA:3327,Disorder,[Malformation syndrome],Thyrocerebrorenal syndrome,[Cutler-Bass-Romshe syndrome],"A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.",[274240],,,,,Cutler Bass Romshe syndrome,TRUE,FALSE,Active +GARD:16460,Active,Orphanet+OMIM,OMIM:614256,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 10","[Mental retardation, autosomal dominant 10]",,[614256],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16461,Active,Orphanet+OMIM,OMIM:614257,Subtype of disorder,[Etiological subtype],Chromosome 20q11-q12 deletion syndrome,"[mental retardation, autosomal dominant 11, included, Intellectual developmental disorder, autosomal dominant 11, included]","Chromosome 20q11-q12 deletion syndrome is characterized by global developmental delay, poor overall growth, sometimes with severe feeding difficulties, facial dysmorphism, and distal skeletal anomalies. Some patients may have hearing impairment, retinopathy, or cardiac defects. It is a multisystemic disorder with variable features (summary by {4:Loddo et al., 2018}).",[614257],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16462,Active,Orphanet+OMIM,OMIM:614563,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 13","[mental retardation, autosomal dominant 13, with neuronal migration defects, Mental retardation, autosomal dominant 13]","MRD13 is an autosomal dominant intellectual developmental disorder associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by {6:Willemsen et al., 2012} and {3:Poirier et al., 2013}).",[614563],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16463,Active,Orphanet+OMIM,OMIM:615107,Subtype of disorder,[Disease subtype],Cowden syndrome 4,,,[615107],[201],[Cowden syndrome],[6202],,,,, +GARD:16464,Active,Orphanet+OMIM,OMIM:615108,Subtype of disorder,[Disease subtype],Cowden syndrome 5,,,[615108],[201],[Cowden syndrome],[6202],,,,, +GARD:16465,Active,Orphanet+OMIM,OMIM:615109,Subtype of disorder,[Disease subtype],Cowden syndrome 6,,,[615109],[201],[Cowden syndrome],[6202],,,,, +GARD:16466,Active,Orphanet+OMIM,OMIM:615777,Subtype of disorder,[Malformation syndrome subtype],Desbuquois dysplasia 2,[Baratela-scott syndrome],"Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by {2:Bui et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 ({251450}).",[615777],[1425],[Desbuquois syndrome],[1818],,,,, +GARD:16467,Active,Orphanet+OMIM,OMIM:615828,Subtype of disorder,[Etiological subtype],Vulto-van silfhout-de vries syndrome,"[Intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures, mental retardation, autosomal dominant 24]","Vulto-van Silfout-de Vries syndrome (VSVS) is an intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities, including autistic features and poor eye contact. Most patients have additional nonspecific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances (summary by {2:Nabais Sa et al., 2019}).",[615828],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16468,Active,Orphanet+OMIM,OMIM:615907,Subtype of disorder,[Disease subtype],Lymphatic malformation 4,"[Lymphedema, hereditary, id, formerly]",,[615907],[79452],[Milroy disease],[7220],,,,, +GARD:16469,Active,Orphanet+OMIM,OMIM:616393,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 38","[Mental retardation, autosomal dominant 38, psychomotor retardation, epilepsy, and language disability syndrome]",,[616393],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16470,Active,Orphanet+OMIM,OMIM:616858,Subtype of disorder,[Disease subtype],Cowden syndrome 7,,,[616858],[201],[Cowden syndrome],[6202],,,,, +GARD:16471,Active,Orphanet+OMIM,OMIM:617571,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 14",,,[617571],[313],[Lamellar ichthyosis],[10803],,,,, +GARD:16472,Active,Orphanet+OMIM,OMIM:617796,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 52","[Mental retardation, autosomal dominant 52]",,[617796],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16473,Active,Orphanet+OMIM,OMIM:617798,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 53","[Mental retardation, autosomal dominant 53]",,[617798],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16474,Active,Orphanet+OMIM,OMIM:617799,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 54","[Mental retardation, autosomal dominant 54]",,[617799],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16475,Active,Orphanet+OMIM,OMIM:618095,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 63","[Mental retardation, autosomal recessive 63]",,[618095],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16476,Active,Orphanet+OMIM,OMIM:618106,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 58","[Mental retardation, autosomal dominant 58]",,[618106],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16477,Active,Orphanet+OMIM,OMIM:618330,Subtype of disorder,[Etiological subtype],Global developmental delay with or without impaired intellectual development,,,[618330],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16478,Active,Orphanet+OMIM,OMIM:619188,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 64","[Mental retardation, autosomal dominant 64]","Autosomal dominant intellectual developmental disorder-64 (MRD64) is characterized by mildly to severely impaired intellectual development (ID) with speech delays. Most patients also have autism spectrum disorder (ASD). Additional features are highly variable but may include motor delay, attention deficit-hyperactivity disorder (ADHD), and nonspecific dysmorphic features (summary by {1:Mirzaa et al., 2020}).",[619188],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16479,Active,Orphanet,ORPHA:663,Disorder,[Disease],Mitochondrial DNA-related progressive external ophthalmoplegia,"[Maternally-inherited CPEO, Maternally-inherited chronic progressive external ophthalmoplegia, mtDNA-related progressive external ophthalmoplegia]",,,,,,,,,, +GARD:16480,Active,Orphanet,ORPHA:59181,Disorder,[Disease],Sorsby pseudoinflammatory fundus dystrophy,,"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.","[136900, 264420]",,,,,,,, +GARD:16481,Active,Orphanet,ORPHA:280183,Disorder,[Biological anomaly],Methylmalonic aciduria due to transcobalamin receptor defect,"[Methylmalonic acidemia, TCb1R type, Methylmalonic acidemia, TCbIR type]","Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.",[613646],,,,,,,, +GARD:16482,Active,Orphanet,ORPHA:91483,Disorder,[Morphological anomaly],Rieger anomaly,,"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly (see this term).","[601631, 137600, 602482]",,,,,,,, +GARD:16483,Active,Orphanet+OMIM,OMIM:618641,Subtype of disorder,[Disease subtype],Infantile liver failure syndrome 3,,"Infantile liver failure syndrome-3 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there usually is complete recovery between episodes with conservative treatment. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads (summary by {1:Cousin et al., 2019}).\n\nFor a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 ({615438}).",[618641],[464724],[Fever-associated acute infantile liver failure syndrome],[17820],,,,, +GARD:16484,Active,Orphanet,ORPHA:98634,Group of disorders,[Category],Anterior segment developmental anomaly without extraocular manifestations,,,,,,,,,,, +GARD:16485,Active,Orphanet,ORPHA:98978,Disorder,[Morphological anomaly],Axenfeld anomaly,,"A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.","[601631, 602482]",,,,,,,, +GARD:16486,Active,Orphanet,ORPHA:254892,Disorder,[Disease],Autosomal dominant progressive external ophthalmoplegia,[adPEO],"A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.","[610131, 157640, 609286, 609283, 613077]",,,,,,,, +GARD:16487,Active,Orphanet,ORPHA:329931,Subtype of disorder,[Histopathological subtype],C3 glomerulonephritis,,"A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and the electron microscopic findings of predominant subendothelial, occasionally subepithelial (so-called ''humps''), and intramembranous deposits, but without the typical electron-dense deposits of dense deposit disease.",[614809],,,,,,,, +GARD:16489,Active,Orphanet,ORPHA:280133,Disorder,[Disease],Complement component 3 deficiency,[C3 deficiency],"Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.",[613779],,,,,,,, +GARD:16490,Active,Orphanet,ORPHA:156005,Group of disorders,[Clinical group],Primary early-onset glaucoma,,,,,,,,,,, +GARD:16491,Active,Orphanet+OMIM,OMIM:100070,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial abdominal, 1",,"Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by {16:Kuivaniemi et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Abdominal Aortic Aneurysm\n\nMapped loci for abdominal aortic aneurysm include AAA1 on chromosome 19q13; AAA2 ({609782}) on chromosome 4q31; AAA3 ({611891}) on chromosome 9p21; and AAA4 ({614375}) on chromosome 12q13.",[100070],[86],[Familial abdominal aortic aneurysm],[9181],,,,, +GARD:16492,Active,Orphanet+OMIM,OMIM:609782,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial abdominal, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 ({100070}).",[609782],[86],[Familial abdominal aortic aneurysm],[9181],,,,, +GARD:16493,Active,Orphanet+OMIM,OMIM:611891,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial abdominal, 3",,"For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 ({100070}).",[611891],[86],[Familial abdominal aortic aneurysm],[9181],,,,, +GARD:16494,Active,Orphanet+OMIM,OMIM:614375,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial abdominal, 4",,"For a phenotypic description and a discussion of genetic heterogeneity of abdominal aortic aneurysm, see AAA1 ({100070}).",[614375],[86],[Familial abdominal aortic aneurysm],[9181],,,,, +GARD:16495,Active,Orphanet+OMIM,OMIM:618388,Subtype of disorder,[Malformation syndrome subtype],Fetal akinesia deformation sequence 2,,"The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism ({3:Vogt et al., 2009}). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see {253290}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FADS, see {208150}.",[618388],[994],[Fetal akinesia deformation sequence],[9634],,,,, +GARD:16496,Active,Orphanet+OMIM,OMIM:618389,Subtype of disorder,[Malformation syndrome subtype],Fetal akinesia deformation sequence 3,,"The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism ({2:Vogt et al., 2009}). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see {253290}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FADS, see {208150}.",[618389],[994],[Fetal akinesia deformation sequence],[9634],,,,, +GARD:16497,Active,Orphanet+OMIM,OMIM:618393,Subtype of disorder,[Malformation syndrome subtype],Fetal akinesia deformation sequence 4,,"Fetal akinesia deformation sequence-4 (FADS4) is an autosomal recessive disorder characterized by decreased fetal movements due to impaired neuromuscular function, resulting in significant congenital contractures and death in utero or soon after birth (summary by {1:Bonnin et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FADS, see {208150}.",[618393],[994],[Fetal akinesia deformation sequence],[9634],,,,, +GARD:16498,Active,Orphanet+OMIM,OMIM:609283,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2","[Progressive external ophthalmoplegia, autosomal dominant 2]","Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({1:Filosto et al., 2003}; {8:Luoma et al., 2004}).\n\nPEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes ({7:Lamantea et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640}).",[609283],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,,,, +GARD:16499,Active,Orphanet+OMIM,OMIM:609286,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3","[Progressive external ophthalmoplegia, autosomal dominant 3]","Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by {3:Fratter et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640}).\n\nPEO caused by mutations in the POLG gene ({174763}) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 ({103220}) or C10ORF2 genes ({6:Lamantea et al., 2002}).",[609286],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,,,, +GARD:16500,Active,Orphanet+OMIM,OMIM:610131,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4","[Progressive external ophthalmoplegia, autosomal dominant 4]","Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by {2:Young et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640}).",[610131],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,,,, +GARD:16501,Active,Orphanet+OMIM,OMIM:613077,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5","[Progressive external ophthalmoplegia, autosomal dominant 5]",,[613077],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,,,, +GARD:16502,Active,Orphanet+OMIM,OMIM:166780,Subtype of disorder,[Malformation syndrome subtype],Otofaciocervical syndrome 1,[Ofc],"Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by {5:Pohl et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Otofaciocervical Syndrome\n\nOTFCS2 ({615560}) is caused by mutation in the PAX1 gene ({167411}) on chromosome 20p11.",[166780],[2792],[Otofaciocervical syndrome],[4169],,,,, +GARD:16503,Active,Orphanet+OMIM,OMIM:615560,Subtype of disorder,[Malformation syndrome subtype],"Otofaciocervical syndrome 2, with t-cell deficiency",[Ofc2],"Otofaciocervical syndrome-2 with T-cell deficiency (OTFCS2) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by {3:Pohl et al., 2013}). Patients have been reported who also exhibit altered thymus development with T-cell immunodeficiency and recurrent, sometimes fatal, infections ({1:Paganini et al., 2017}; {4:Yamazaki et al., 2020}).\n\nFor a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 ({166780}).",[615560],[2792],[Otofaciocervical syndrome],[4169],,,,, +GARD:16504,Active,Orphanet+OMIM,OMIM:605751,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 2","[Convulsions, benign familial infantile, 2]","Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by {10:Weber et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).\n\nBenign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA; {602066}) and paroxysmal kinesigenic choreoathetosis (EKD1; {128200}).",[605751],[306],[Benign familial infantile epilepsy],[857],,,,, +GARD:16505,Active,Orphanet+OMIM,OMIM:612627,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).",[612627],[306],[Benign familial infantile epilepsy],[857],,,,, +GARD:16506,Active,Orphanet+OMIM,OMIM:617080,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 5","[Convulsions, benign familial infantile, 5]","Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by {2:Gardella et al., 2016} and {1:Anand et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).",[617080],[306],[Benign familial infantile epilepsy],[857],,,,, +GARD:16507,Active,Orphanet+OMIM,OMIM:602096,Subtype of disorder,[Disease subtype],Alzheimer disease 5,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[602096],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16508,Active,Orphanet+OMIM,OMIM:605055,Subtype of disorder,[Disease subtype],"Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology",,,[605055],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16509,Active,Orphanet+OMIM,OMIM:605526,Subtype of disorder,[Disease subtype],Alzheimer disease 6,,"Alzheimer disease (AD) is a neurodegenerative disorder characterized by subtle onset of memory loss followed by a slowly progressive dementia. The great majority of AD cases are of late onset (LOAD) after age 65 years. LOAD shows complex, nonmendelian patterns of inheritance, and most likely results from the combined effects of variation in a number of genes as well as from environmental factors (summary by {11:Grupe et al., 2006}).\n\nThe Alzheimer disease-6 (AD6) designation refers to a susceptibility locus on chromosome 10q. Although significant associations with several candidate genes on chromosome 10 have been reported, these findings have not been consistently replicated, and they remain controversial ({11:Grupe et al., 2006}).\n\nFor a discussion of genetic heterogeneity of Alzheimer disease, see {104300}.",[605526],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16510,Active,Orphanet+OMIM,OMIM:606187,Subtype of disorder,[Disease subtype],Alzheimer disease 7,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[606187],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16511,Active,Orphanet+OMIM,OMIM:606889,Subtype of disorder,[Disease subtype],Alzheimer disease 4,"[Ad4, alzheimer disease, familial, 4]",,[606889],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16512,Active,Orphanet+OMIM,OMIM:607116,Subtype of disorder,[Disease subtype],Alzheimer disease 8,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[607116],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16513,Active,Orphanet+OMIM,OMIM:607822,Subtype of disorder,[Disease subtype],Alzheimer disease 3,"[alzheimer disease, familial, 3, Alzheimer disease 3, early-onset]",,[607822],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16514,Active,Orphanet+OMIM,OMIM:609636,Subtype of disorder,[Disease subtype],Alzheimer disease 10,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[609636],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16515,Active,Orphanet+OMIM,OMIM:609790,Subtype of disorder,[Disease subtype],Alzheimer disease 11,,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[609790],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16516,Active,Orphanet+OMIM,OMIM:611073,Subtype of disorder,[Disease subtype],Alzheimer disease 12,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[611073],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16517,Active,Orphanet+OMIM,OMIM:611152,Subtype of disorder,[Disease subtype],Alzheimer disease 13,,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}.",[611152],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16518,Active,Orphanet+OMIM,OMIM:611154,Subtype of disorder,[Disease subtype],Alzheimer disease 14,,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}.",[611154],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16519,Active,Orphanet+OMIM,OMIM:182230,Subtype of disorder,[Disease subtype],Septooptic dysplasia,[De morsier syndrome],"Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum ({8:Dattani et al., 1998}). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by {24:Webb and Dattani, 2010}).\n\nAlso see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.",[182230],[95494],"[Combined pituitary hormone deficiencies, genetic forms]",[10602],,,,, +GARD:16520,Active,Orphanet+OMIM,OMIM:613986,Subtype of disorder,[Disease subtype],"Pituitary hormone deficiency, combined, 6",,,[613986],[95494],"[Combined pituitary hormone deficiencies, genetic forms]",[10602],,,,, +GARD:16521,Active,Orphanet+OMIM,OMIM:607745,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 3","[seizures, benign familial neonatal-infantile, Convulsions, benign familial infantile, 3]","Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae ({7:Shevell et al., 1986}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).",[607745],[306],[Benign familial infantile epilepsy],[857],,,,, +GARD:16522,Active,Orphanet,ORPHA:187,Group of disorders,[Category],Citrullinemia,,"Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms).",,,,,,,,, +GARD:16523,Active,Orphanet,ORPHA:364,Disorder,[Disease],Glycogen storage disease due to glucose-6-phosphatase deficiency,"[G6P deficiency, GSD due to G6P deficiency, GSD type 1, GSD type I, Glycogen storage disease due to G6P deficiency, Glycogen storage disease type 1, Glycogen storage disease type I, Glycogenosis type 1, Glycogenosis type I, Hepatorenal glycogenosis, Von Gierke disease]","Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.","[232240, 232200, 232220]",,,,,,,, +GARD:16524,Active,Orphanet,ORPHA:79133,Subtype of disorder,[Clinical subtype],Focal facial dermal dysplasia type I,"[Bitemporal aplasia cutis congenita, Brauer syndrome, FFDD type I, FFDD1, Focal facial dermal dysplasia 1, Brauer type, Focal facial dermal dysplasia type 1]","Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia.",[136500],,,,,,,, +GARD:16526,Active,Orphanet,ORPHA:205,Disorder,[Disease],Crigler-Najjar syndrome,"[Bilirubin uridinediphosphate glucuronosyltransferase deficiency, Bilirubin-UGT deficiency]",A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy.,"[606785, 218800]",,,,,,,, +GARD:16527,Active,Orphanet,ORPHA:301,Group of disorders,[Clinical group],Ependymal tumor,,"A tumor of neurectodermal origin arising from ependymal cells that line the ventricles and central canal of the spinal cord, that can occur in both children and adults, and that is characterized by wide a range of clinical manifestations depending on the location of the tumor, such as intracranial hypertension for tumors originating in the posterior fossa, behavioural changes and pyramidal signs for supratentorial tumors, and dysesthesia for tumors of the spinal cord. They can be classified as myxopapillary ependymoma, subependymoma, ependymoma (low grade tumors) or anaplastic ependymoma (grade III tumors).",[137800],,,,,,,, +GARD:16528,Active,Orphanet,ORPHA:317,Disorder,[Disease],Erythrokeratodermia variabilis,"[EKV, Erythrokeratodermia variabilis, Mendes da Costa type]",,"[617524, 617525, 617526, 133200]",,,,,,,, +GARD:16529,Active,Orphanet,ORPHA:391,Disorder,[Disease],Classic Hodgkin lymphoma,[Classic Hodgkin disease],Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.,"[236000, 300221, 400021]",,,,,,,, +GARD:1653,Legacy,GARD,,,,,,,,,,,,Cystic hygroma lethal cleft palate,TRUE,FALSE,Retired +GARD:16530,Active,Orphanet,ORPHA:416,Disorder,[Disease],Primary hyperoxaluria,,"A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH, types 1-3, all caused by liver-specific enzyme defects.","[259900, 260000, 613616]",,,,,,,, +GARD:16531,Active,Orphanet,ORPHA:422,Disorder,[Disease],Idiopathic/heritable pulmonary arterial hypertension,[Idiopathic and/or familial pulmonary arterial hypertension],"A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic.","[615342, 178600, 615343, 265400, 615344]",,,,,,,, +GARD:16532,Active,Orphanet,ORPHA:427,Disorder,[Disease],Familial hypoaldosteronism,,"A rare genetic hypoaldosteronism that typically presents in infancy (earl-onset familial hypoaldosternism) as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). A history of fever, diarrhoea, lethargy, poor weight gain, poor feeding since birth may also be present. Older subjects (late-onset familial hypoaldosteronism) are less severely affected or asymptomatic.","[606984, 203400, 610600]",,,,,,,, +GARD:16533,Active,Orphanet,ORPHA:432,Subtype of disorder,[Clinical subtype],Normosmic congenital hypogonadotropic hypogonadism,"[Normosmic idiopathic hypogonadotropic hypogonadism, nIHH]",,"[308700, 614837, 612370, 614838, 610628, 614839, 614840, 146110, 614841, 615269, 615270, 244200, 614842, 614858, 612702, 147950, 614880, 615266]",,,,,,,, +GARD:16534,Active,Orphanet,ORPHA:557,Group of disorders,[Clinical group],Non-syndromic anorectal malformation,[Non-syndromic ARM],"A wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.","[107100, 207500, 301800]",,,,,,,, +GARD:16535,Active,Orphanet,ORPHA:558,Disorder,[Disease],Marfan syndrome,[MFS],"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.","[154700, 610168]",,,,,,,, +GARD:16536,Active,Orphanet,ORPHA:598,Disorder,[Disease],Multiminicore myopathy,"[MmD, Multiminicore disease]",A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.,"[255320, 117000, 602771]",,,,,,,, +GARD:16537,Active,Orphanet,ORPHA:622,Disorder,[Disease],Homocystinuria without methylmalonic aciduria,"[Functional methionine synthase deficiency, Methylcobalamin deficiency]","Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).","[277410, 250940, 236270]",,,,,,,, +GARD:16538,Active,Orphanet,ORPHA:632,Subtype of disorder,[Clinical subtype],Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,,,[307200],,,,,,,, +GARD:16539,Active,Orphanet,ORPHA:650,Disorder,[Disease],LCAT deficiency,[Lecithin-cholesterol acyltransferase deficiency],"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.","[245900, 136120]",,,,,,,, +GARD:1654,Active,Orphanet,ORPHA:229,Disorder,[Disease],Familial aortic dissection,"[Annuloaortic ectasia, Cystic medial necrosis of aorta]","Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.",[607086],,,,,Cystic medial necrosis of aorta,TRUE,FALSE,Active +GARD:16540,Active,Orphanet,ORPHA:660,Disorder,[Morphological anomaly],Omphalocele,,"A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.","[164750, 310980]",,,,,,,, +GARD:16541,Active,Orphanet,ORPHA:712,Disorder,[Disease],Hemolytic anemia due to glucophosphate isomerase deficiency,,Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.,[613470],,,,,,,, +GARD:16542,Active,Orphanet,ORPHA:737,Disorder,[Disease],Porokeratosis plantaris palmaris et disseminata,"[Palmar, plantar and disseminated porokeratosis]","A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones.",[175850],,,,,,,, +GARD:16543,Active,Orphanet,ORPHA:743,Disorder,[Disease],Severe hereditary thrombophilia due to congenital protein S deficiency,[Autosomal recessive thrombophilia due to congenital protein S deficiency],An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.,"[614514, 612336]",,,,,,,, +GARD:16544,Active,Orphanet,ORPHA:745,Disorder,[Disease],Severe hereditary thrombophilia due to congenital protein C deficiency,"[Autosomal recessive thrombophilia due to PC deficiency, Autosomal recessive thrombophilia due to congenital protein C deficiency]",Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.,"[612304, 176860]",,,,,,,, +GARD:16545,Active,Orphanet,ORPHA:756,Disorder,[Disease],Pseudohypoaldosteronism type 1,"[PHA type 1, PHA1]","A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration.","[264350, 177735]",,,,,,,, +GARD:16546,Active,Orphanet,ORPHA:759,Disorder,[Disease],Central precocious puberty,"[CPP, Gonadotropin-dependant precocious puberty]","Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).","[615346, 176400]",,,,,,,, +GARD:16547,Active,Orphanet,ORPHA:768,Group of disorders,[Clinical group],Familial long QT syndrome,"[Congenital long QT syndrome, LQTS]","A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias.","[220400, 611818, 616247, 611819, 618447, 611820, 616249, 613693, 601005, 613695, 600919, 603830, 612955, 613688, 613485, 192500, 612347]",,,,,,,, +GARD:16548,Active,Orphanet,ORPHA:785,Disorder,[Disease],Estrogen resistance syndrome,,"Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.",[615363],,,,,,,, +GARD:16549,Active,Orphanet,ORPHA:833,Disorder,[Disease],Encephalopathy due to sulfite oxidase deficiency,,"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.","[272300, 252160, 615501, 252150]",,,,,,,, +GARD:16550,Active,Orphanet,ORPHA:844,Disorder,[Disease],Lown-Ganong-Levine syndrome,"[Atrial tachyarrhythmia with short PR interval, LGL syndrome]","Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).",[108950],,,,,,,, +GARD:16551,Active,Orphanet,ORPHA:959,Disorder,[Malformation syndrome],Acro-renal-ocular syndrome,,"A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome.",[607323],,,,,,,, +GARD:16552,Active,Orphanet,ORPHA:983,Disorder,[Morphological anomaly],Testicular regression syndrome,"[ETRS, Embryonic testicular regression syndrome, TRS, Vanishing testes syndrome, Vanishing testis syndrome, XY gonadal agenesis syndrome]","Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.",[273250],,,,,,,, +GARD:16553,Active,Orphanet,ORPHA:1014,Disorder,[Disease],Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,[Devriendt-Vandenberghe-Fryns syndrome],"A rare syndromic intellectual disability characterized by the association of total, congenital alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Reported electroencephalography findings were normal.",[601217],,,,,,,, +GARD:16554,Active,Orphanet,ORPHA:1027,Disorder,[Malformation syndrome],Autosomal recessive amelia,,"A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.",[601360],,,,,,,, +GARD:16555,Active,Orphanet,ORPHA:1083,Disorder,[Morphological anomaly],Microlissencephaly,,"Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.","[614019, 616212]",,,,,,,, +GARD:16556,Active,Orphanet,ORPHA:1147,Disorder,[Malformation syndrome],Sheldon-Hall syndrome,"[Distal arthrogryposis type 2B, Freeman-Sheldon syndrome variant]","Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.","[618435, 616266, 601680]",,,,,,,, +GARD:16557,Active,Orphanet,ORPHA:1166,Disorder,[Morphological anomaly],Congenital unilateral hypoplasia of depressor anguli oris,[Isolated asymmetric crying facies],"A rare, isolated, congenital, head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies.",[125520],,,,,,,, +GARD:16558,Active,Orphanet,ORPHA:1175,Disorder,[Disease],X-linked progressive cerebellar ataxia,,"A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.",[302500],,,,,,,, +GARD:16559,Active,Orphanet,ORPHA:1178,Disorder,[Disease],Ataxia-tapetoretinal degeneration syndrome,,"A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.",[272600],,,,,,,, +GARD:16560,Active,Orphanet,ORPHA:1182,Disorder,[Disease],Spastic ataxia with congenital miosis,"[Autosomal dominant spastic ataxia type 7, SPAX7]","Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.",[108650],,,,,,,, +GARD:16561,Active,Orphanet,ORPHA:1194,Disorder,[Disease],TMEM70-related mitochondrial encephalo-cardio-myopathy,"[Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency, Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency, Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency]","Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.",[614052],,,,,,,, +GARD:16562,Active,Orphanet,ORPHA:1295,Disorder,[Malformation syndrome],Brachytelephalangy-dysmorphism-Kallmann syndrome,,"A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986.",[113480],,,,,,,, +GARD:16563,Active,Orphanet,ORPHA:1336,Disorder,[Disease],Hyperkeratosis-hyperpigmentation syndrome,,"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.",[144190],,,,,,,, +GARD:16564,Active,Orphanet,ORPHA:1344,Disorder,[Disease],Atrial standstill,[Atrial cardiomyopathy with heart block],"A rare cardiac rhythm disease characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.","[108770, 615745]",,,,,,,, +GARD:16565,Active,Orphanet,ORPHA:1422,Disorder,[Malformation syndrome],Chondrodysplasia-disorder of sex development syndrome,[Nivelon-Nivelon-Mabille syndrome],"A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia.",[600092],,,,,,,, +GARD:16566,Active,Orphanet,ORPHA:1479,Disorder,[Malformation syndrome],Atrial septal defect-atrioventricular conduction defects syndrome,,"An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.",[108900],,,,,,,, +GARD:16567,Active,Orphanet,ORPHA:1488,Disorder,[Malformation syndrome],Cooper-Jabs syndrome,[Aural atresia-multiple congenital anomalies-intellectual disability syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.",[209770],,,,,,,, +GARD:16568,Active,Orphanet,ORPHA:1507,Subtype of disorder,[Clinical subtype],Autosomal recessive Robinow syndrome,"[COVESDEM syndrome, Costovertebral segmentation defect-mesomelia syndrome, RRS]","Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.","[268310, 618529]",,,,,,,, +GARD:16569,Active,Orphanet,ORPHA:1561,Disorder,[Disease],Fatal infantile cytochrome C oxidase deficiency,"[Fatal infantile COX deficiency, Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency]",Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.,"[616500, 616501, 615119, 604377]",,,,,,,, +GARD:1657,Legacy,GARD,,,,,,,,,,,,Cytomegalic inclusion disease,TRUE,FALSE,Active +GARD:16570,Active,Orphanet,ORPHA:1587,Disorder,[Malformation syndrome],Monosomy 13q14,"[Del(13)(q14), Deletion 13q14]","Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.",[613884],,,,,,,, +GARD:16571,Active,Orphanet,ORPHA:1590,Disorder,[Malformation syndrome],Distal monosomy 13q,"[13q32 deletion, Deletion 13q32, Distal 13q deletion, Monosomy 13q32, Telomeric deletion13q]","Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.",[602553],,,,,,,, +GARD:16572,Active,Orphanet,ORPHA:1596,Disorder,[Malformation syndrome],Distal monosomy 15q,"[15q26 deletion syndrome, Distal 15q deletion syndrome, Monosomy 15q26, Telomeric 15q deletion syndrome]","Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.",[612626],,,,,,,, +GARD:16573,Active,Orphanet,ORPHA:1621,Disorder,[Malformation syndrome],3q13 microdeletion syndrome,"[Del(3)(q13), Monosomy 3q13]","3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.",[615433],,,,,,,, +GARD:16574,Active,Orphanet,ORPHA:1646,Disorder,[Malformation syndrome],Partial chromosome Y deletion,[Male sterility due to chromosome Y deletion],Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.,"[400042, 415000]",,,,,,,, +GARD:16575,Active,Orphanet,ORPHA:1653,Disorder,[Disease],Dentin dysplasia,[DD],Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms).,"[125420, 125400]",,,,,,,, +GARD:16576,Active,Orphanet,ORPHA:1670,Disorder,[Disease],Chronic diarrhea with villous atrophy,,"Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.","[618662, 520100]",,,,,,,, +GARD:16577,Active,Orphanet,ORPHA:1682,Disorder,[Malformation syndrome],Arterial dissection-lentiginosis syndrome,,"A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).",[600459],,,,,,,, +GARD:16578,Active,Orphanet,ORPHA:1812,Disorder,[Malformation syndrome],Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome,,"Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.",[225040],,,,,,,, +GARD:16579,Active,Orphanet,ORPHA:1848,Subtype of disorder,[Clinical subtype],"Renal agenesis, bilateral",,"A form of renal agenesis characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.","[191830, 617805]",,,,,,,, +GARD:1658,Legacy,GARD,,,,,,,,,,,,Cytoplasmic body myopathy,TRUE,FALSE,Active +GARD:16580,Active,Orphanet,ORPHA:1926,Disorder,[Malformation syndrome],Diabetic embryopathy,,A rare disorder characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother.,[601759],,,,,,,, +GARD:16581,Active,Orphanet,ORPHA:1935,Disorder,[Clinical syndrome],Early myoclonic encephalopathy,[Early myoclonic encephalopathy with suppression-bursts],"A rare disorder characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.","[616341, 609304, 617105]",,,,,,,, +GARD:16582,Active,Orphanet,ORPHA:2024,Disorder,[Malformation syndrome],Hereditary gingival fibromatosis,"[Autosomal dominant gingival fibromatosis, Autosomal dominant gingival hyperplasia, Hereditary gingival hyperplasia]","Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.","[611010, 135300, 617626, 605544, 609955]",,,,,,,, +GARD:16583,Active,Orphanet,ORPHA:2028,Subtype of disorder,[Clinical subtype],Juvenile hyaline fibromatosis,"[Murray-Puretic-Drescher syndrome, Puretic syndrome]","A rare hyaline fibromatosis syndrome characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material.",[228600],,,,,,,, +GARD:16584,Active,Orphanet,ORPHA:2076,Group of disorders,[Clinical group],X-linked intellectual disability-epilepsy syndrome,,,"[300607, 300088, 300423]",,,,,,,, +GARD:16585,Active,Orphanet,ORPHA:2138,Disorder,[Malformation syndrome],"46,XX ovotesticular disorder of sex development","[46,XX ovotesticular DSD]","A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.",[400045],,,,,,,, +GARD:16586,Active,Orphanet,ORPHA:2149,Disorder,[Morphological anomaly],Nodular neuronal heterotopia,,"A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood.","[612881, 300049, 617201, 608098, 608097, 615544]",,,,,,,, +GARD:16587,Active,Orphanet,ORPHA:2197,Disorder,[Disease],Idiopathic hypercalciuria,,"A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients.","[143870, 607258]",,,,,,,, +GARD:16588,Active,Orphanet,ORPHA:2232,Disorder,[Disease],Primary hypergonadotropic hypogonadism-partial alopecia syndrome,[Al Awadi-Farag-Teebi syndrome],This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.,[241090],,,,,,,, +GARD:16589,Active,Orphanet,ORPHA:2239,Subtype of disorder,[Clinical subtype],Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,,"A rare genetic hypoparathyroidism characterized by severe hypocalcemia, seizures, hyperphosphatemia, and undetectable parathyroid hormone levels, in the absence of parathyroid tissue. Complications include psychomotor and growth delay, delayed dentition, and cataracts.","[146200, 307700]",,,,,,,, +GARD:16590,Active,Orphanet,ORPHA:2250,Disorder,[Disease],Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,"[Bosma arhinia-microphthalmia syndrome, Bosma-Henkin-Christiansen syndrome]","This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.",[603457],,,,,,,, +GARD:16591,Active,Orphanet,ORPHA:2257,Disorder,[Morphological anomaly],Primary pulmonary hypoplasia,,"Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.",[265430],,,,,,,, +GARD:16592,Active,Orphanet,ORPHA:2301,Disorder,[Morphological anomaly],Congenital short bowel syndrome,,"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.","[300048, 615237]",,,,,,,, +GARD:16593,Active,Orphanet,ORPHA:2310,Disorder,[Malformation syndrome],Absence deformity of leg-cataract syndrome,,"A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.",[246000],,,,,,,, +GARD:16594,Active,Orphanet,ORPHA:2333,Disorder,[Malformation syndrome],Kenny-Caffey syndrome,[Kenny syndrome],"A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. Additional manifestations include ocular and dental anomalies (e.g. corneal opacity, hyperopia, optic atrophy, tortuous retinal vessels, dental caries, enamel defects) and, occasionally, hypoplastic nails and neonatal liver disease. Inheritance may be autosomal dominant or autosomal recessive, with more severe growth retardation, small hands and feet, intellectual disability, microcephaly and recurrent bacterial infections being observed in the latter.","[244460, 127000]",,,,,,,, +GARD:16595,Active,Orphanet,ORPHA:2370,Disorder,[Malformation syndrome],Larsen-like osseous dysplasia-short stature syndrome,,"Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.",[608545],,,,,,,, +GARD:16596,Active,Orphanet,ORPHA:2374,Disorder,[Malformation syndrome],Congenital laryngeal web,,A rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.,[150360],,,,,,,, +GARD:16597,Active,Orphanet,ORPHA:2375,Disorder,[Malformation syndrome],Laryngeal abductor paralysis-intellectual disability syndrome,[Plott syndrome],"A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features.",[308850],,,,,,,, +GARD:16598,Active,Orphanet,ORPHA:2429,Disorder,[Malformation syndrome],Macrocephaly-spastic paraplegia-dysmorphism syndrome,[Fryns macrocephaly],"Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.",[600302],,,,,,,, +GARD:16599,Active,Orphanet,ORPHA:2430,Disorder,[Malformation syndrome],Congenital macroglossia,,"A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes.",[153630],,,,,,,, +GARD:166,Active,Orphanet,ORPHA:799,Disorder,[Disease],Schizencephaly,,"A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.",[269160],,,,,Schizencephaly,TRUE,FALSE,Active +GARD:16600,Active,Orphanet,ORPHA:2451,Disorder,[Malformation syndrome],Mucocutaneous venous malformations,"[Cutaneous and mucosal venous malformation, VMCM]","Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.",[600195],,,,,,,, +GARD:16601,Active,Orphanet,ORPHA:2477,Disorder,[Malformation syndrome],Megalencephaly,[Macroencephaly],"A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.","[155350, 248000]",,,,,,,, +GARD:16602,Active,Orphanet,ORPHA:2489,Disorder,[Malformation syndrome],Upper limb defect-eye and ear abnormalities syndrome,,"A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.",[274205],,,,,,,, +GARD:16603,Active,Orphanet,ORPHA:2518,Disorder,[Malformation syndrome],Autosomal recessive chorioretinopathy-microcephaly syndrome,[Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome],"A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.","[251270, 616335]",,,,,,,, +GARD:16604,Active,Orphanet,ORPHA:2680,Disorder,[Malformation syndrome],Hypomyelination neuropathy-arthrogryposis syndrome,,"Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.","[616287, 618186, 616286, 617468]",,,,,,,, +GARD:16605,Active,Orphanet,ORPHA:2688,Disorder,[Disease],Adult idiopathic neutropenia,[Adult chronic idiopathic neutropenia],"A rare acquired immunodeficiency disease characterized by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent aphtous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.",[607847],,,,,,,, +GARD:16606,Active,Orphanet,ORPHA:2714,Disorder,[Malformation syndrome],Oculo-palato-cerebral syndrome,[Oculo-palato-cerebral dwarfism],"Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.",[257910],,,,,,,, +GARD:16607,Active,Orphanet,ORPHA:2718,Disorder,[Malformation syndrome],Oculotrichodysplasia,[Cecato de Lima-Pinheiro syndrome],"A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.",[257960],,,,,,,, +GARD:16608,Active,Orphanet,ORPHA:2733,Disorder,[Malformation syndrome],Omodysplasia,,"Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.","[258315, 164745]",,,,,,,, +GARD:16609,Active,Orphanet,ORPHA:2809,Disorder,[Disease],Familial recurrent peripheral facial palsy,[Familial recurrent Bell palsy],"Familial recurrent peripheral facial palsy is a rare peripheral neuropathy characterized by an acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously, and it might be recurrent with no obvious precipitating factors.",[134200],,,,,,,, +GARD:16610,Active,Orphanet,ORPHA:2828,Disorder,[Disease],Young-onset Parkinson disease,"[Early-onset Parkinson disease, YOPD]","A rare, genetic, parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease.","[606852, 610297, 615528, 606324, 602404, 616840, 300557, 600116, 605909, 613643]",,,,,,,, +GARD:16611,Active,Orphanet,ORPHA:2839,Disorder,[Malformation syndrome],Pelvis-shoulder dysplasia,"[Kosenow syndrome, Scapuloiliac dysostosis]",Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.,[169550],,,,,,,, +GARD:16612,Active,Orphanet,ORPHA:2868,Disorder,[Malformation syndrome],Short stature-valvular heart disease-characteristic facies syndrome,,"Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.",[126190],,,,,,,, +GARD:16613,Active,Orphanet,ORPHA:2880,Disorder,[Disease],Phosphoenolpyruvate carboxykinase deficiency,[PEPCK deficiency],"A rare gluconeogenesis disorder that results from impairment in the enzyme phosphoenolpyruvate carboxykinase, and comprised of cytosolic and mitochondrial forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.","[261650, 261680]",,,,,,,, +GARD:16614,Active,Orphanet,ORPHA:2916,Disorder,[Malformation syndrome],Postaxial polydactyly-dental and vertebral anomalies syndrome,,"Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.",[263540],,,,,,,, +GARD:16615,Active,Orphanet,ORPHA:2951,Disorder,[Malformation syndrome],Absent thumb-short stature-immunodeficiency syndrome,,"An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.",[274190],,,,,,,, +GARD:16616,Active,Orphanet,ORPHA:2968,Disorder,[Disease],Leukocyte adhesion deficiency,[LAD],"Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.","[116920, 266265, 612840]",,,,,,,, +GARD:16617,Active,Orphanet,ORPHA:2975,Disorder,[Malformation syndrome],"46,XX disorder of sex development-skeletal anomalies syndrome",,"A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972.",[264270],,,,,,,, +GARD:16618,Active,Orphanet,ORPHA:3047,Disorder,[Malformation syndrome],"Blepharophimosis-intellectual disability syndrome, SBBYS type","[Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome, SBBYS variant of Ohdo syndrome, SBBYSS, Say-Barber-Biesecker-Young-Simpson syndrome]","A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present.",[603736],,,,,,,, +GARD:16619,Active,Orphanet,ORPHA:3092,Disorder,[Morphological anomaly],Fixed subaortic stenosis,,"Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.",[271950],,,,,,,, +GARD:16620,Active,Orphanet,ORPHA:3107,Subtype of disorder,[Clinical subtype],Autosomal dominant Robinow syndrome,,"The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.","[616331, 616894, 180700]",,,,,,,, +GARD:16621,Active,Orphanet,ORPHA:3137,Disorder,[Disease],Alpha-N-acetylgalactosaminidase deficiency,"[NAGA deficiency, Schindler disease]",A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.,"[609241, 609242]",,,,,,,, +GARD:16622,Active,Orphanet,ORPHA:3175,Disorder,[Disease],X-linked spasticity-intellectual disability-epilepsy syndrome,,"A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.",[308350],,,,,,,, +GARD:16623,Active,Orphanet,ORPHA:3189,Disorder,[Morphological anomaly],Congenital pulmonary valvar stenosis,[Congenital stenosis of pulmonary valve],"A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subpulmonary, or supravalvar levels (valvar, subpulmonary, supravalvar pulmonary stenosis (PS).",[265500],,,,,,,, +GARD:16624,Active,Orphanet,ORPHA:3231,Group of disorders,[Clinical group],Deafness-onychodystrophy syndrome,[Hearing loss-onychodystrophy syndrome],"Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.","[124480, 220500]",,,,,,,, +GARD:16625,Active,Orphanet,ORPHA:3260,Disorder,[Disease],Idiopathic hypereosinophilic syndrome,,"A rare hematologic disease characterized by eosinophilia without evidence of clonality persisting for at least six months, for which no underlying cause can be identified. The condition is associated with signs of organ damage and dysfunction. Clinical manifestations are highly variable, depending on the organ systems involved, and include rapidly developing, life-threatening cardiovascular or neurological complications.",[607685],,,,,,,, +GARD:16626,Active,Orphanet,ORPHA:3366,Disorder,[Morphological anomaly],Non-syndromic metopic craniosynostosis,"[Isolated metopic craniosynostosis, Isolated trigonocephaly, Non-syndromic metopic suture synostosis]",Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.,"[190440, 614485]",,,,,,,, +GARD:16627,Active,Orphanet,ORPHA:3384,Disorder,[Morphological anomaly],Truncus arteriosus,"[Common aorticopulmonary trunk, Common arterial trunk, TAC]",Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.,[217095],,,,,,,, +GARD:16628,Active,Orphanet,ORPHA:3467,Disorder,[Disease],Hereditary xanthinuria,"[Classic xanthinuria, Xanthic urolithiasis, Xanthine stone disease]","A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.","[278300, 603592]",,,,,,,, +GARD:16629,Active,Orphanet,ORPHA:30925,Subtype of disorder,[Clinical subtype],Hereditary central diabetes insipidus,"[Hereditary CDI, Hereditary neurogenic diabetes insipidus]","Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.","[125700, 304900]",,,,,,,, +GARD:16630,Active,Orphanet,ORPHA:33445,Disorder,[Malformation syndrome],Neuroectodermal melanolysosomal disease,[Elejalde disease],"Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.",[256710],,,,,,,, +GARD:16631,Active,Orphanet,ORPHA:33574,Disorder,[Disease],Glutamate-cysteine ligase deficiency,[Gamma-glutamylcysteine synthetase deficiency],"A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.",[230450],,,,,,,, +GARD:16632,Active,Orphanet,ORPHA:35078,Disorder,[Disease],T-B+ severe combined immunodeficiency due to JAK3 deficiency,[T-B+ SCID due to JAK3 deficiency],"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.",[600802],,,,,,,, +GARD:16633,Active,Orphanet,ORPHA:35093,Disorder,[Morphological anomaly],Non-syndromic sagittal craniosynostosis,"[Isolated sagittal craniosynostosis, Isolated scaphocephaly, Non-syndromic sagittal suture synostosis]",Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.,"[123100, 615529, 600775]",,,,,,,, +GARD:16634,Active,Orphanet,ORPHA:35099,Disorder,[Morphological anomaly],Non-syndromic bicoronal craniosynostosis,"[Isolated bicoronal craniosynostosis, Isolated brachycephaly, Non-syndromic bilateral coronal suture synostosis]",Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.,"[123100, 616602, 615314]",,,,,,,, +GARD:16635,Active,Orphanet,ORPHA:35120,Disorder,[Disease],Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,"[P5N deficiency, UMPH1 deficiency, Uridine 5'-monophosphate hydrolase deficiency]","Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.",[266120],,,,,,,, +GARD:16636,Active,Orphanet,ORPHA:35121,Disorder,[Disease],Lysosomal acid phosphatase deficiency,,"A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1971.",[200950],,,,,,,, +GARD:16637,Active,Orphanet,ORPHA:35612,Disorder,[Malformation syndrome],Nanophthalmos,[Nanophthalmia],"A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.","[611897, 613517, 615972, 600165, 609549]",,,,,,,, +GARD:16638,Active,Orphanet,ORPHA:35664,Subtype of disorder,[Etiological subtype],ALDH18A1-related De Barsy syndrome,"[Delta-1-pyrroline 5-carboxylate synthetase deficiency, Neurocutaneous syndrome, Bicknell type, P5CS deficiency]","A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.",[219150],,,,,,,, +GARD:16639,Active,Orphanet,ORPHA:35909,Disorder,[Disease],Combined deficiency of factor V and factor VIII,"[F5F8D, FV and FVIII combined deficiency]",A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.,"[227310, 227300, 613625]",,,,,,,, +GARD:16640,Active,Orphanet,ORPHA:36367,Disorder,[Malformation syndrome],Distal monosomy 1q,"[Distal deletion 1q, Monosomy 1qter, Telomeric deletion 1q]","A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.",[612337],,,,,,,, +GARD:16641,Active,Orphanet,ORPHA:37612,Disorder,[Disease],Episodic ataxia type 1,[Episodic ataxia with myokymia],"A frequent form of Hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.",[160120],,,,,,,, +GARD:16642,Active,Orphanet,ORPHA:39812,Disorder,[Disease],Graft versus host disease,[GVH],A rare disease that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.,[614395],,,,,,,, +GARD:16643,Active,Orphanet,ORPHA:43115,Disorder,[Disease],Hereditary myopathy with lactic acidosis due to ISCU deficiency,"[Aconitase deficiency, ISCU myopathy, Iron-sulfur cluster deficiency myopathy, Myopathy with exercise intolerance, Swedish type]",A rare disease characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.,[255125],,,,,,,, +GARD:16644,Active,Orphanet,ORPHA:47159,Disorder,[Disease],Proximal renal tubular acidosis,"[Renal tubular acidosis type 2, pRTA]",A rare renal tubular disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.,"[604278, 179830]",,,,,,,, +GARD:16645,Active,Orphanet,ORPHA:48431,Disorder,[Malformation syndrome],Congenital cataracts-facial dysmorphism-neuropathy syndrome,[CCFDN],Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.,[604168],,,,,,,, +GARD:16646,Active,Orphanet,ORPHA:50811,Disorder,[Disease],Lipodystrophy-intellectual disability-deafness syndrome,"[Lipodystrophy-intellectual disability-hearing loss syndrome, Rajab-Spranger syndrome]","Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.",[608154],,,,,,,, +GARD:16647,Active,Orphanet,ORPHA:50814,Disorder,[Malformation syndrome],Craniolenticulosutural dysplasia,[Boyadjiev-Jabs syndrome],"Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.",[607812],,,,,,,, +GARD:16648,Active,Orphanet,ORPHA:50815,Disorder,[Malformation syndrome],Branchiogenic deafness syndrome,"[Branchiogenic hearing loss syndrome, Mégarbané-Loiselet syndrome]","Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.",[609166],,,,,,,, +GARD:16649,Active,Orphanet,ORPHA:50944,Disorder,[Disease],Schöpf-Schulz-Passarge syndrome,"[Eccrine tumors-ectodermal dysplasia, Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome, Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome, Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome, SSPS]","Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.",[224750],,,,,,,, +GARD:16650,Active,Orphanet,ORPHA:51083,Disorder,[Disease],Familial short QT syndrome,[SQTS],"A rare, genetic cardiac rhythm disease characterized by a short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.","[609622, 609620, 609621]",,,,,,,, +GARD:16651,Active,Orphanet,ORPHA:51084,Disorder,[Disease],Torsade-de-pointes syndrome with short coupling interval,,"A rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.",[613600],,,,,,,, +GARD:16652,Active,Orphanet,ORPHA:52047,Disorder,[Malformation syndrome],Braddock syndrome,"[Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency]","Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.",[608406],,,,,,,, +GARD:16653,Active,Orphanet,ORPHA:52054,Disorder,[Malformation syndrome],Craniosynostosis-intracranial calcifications syndrome,[Longman-Tolmie syndrome],"Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.",[608432],,,,,,,, +GARD:16654,Active,Orphanet,ORPHA:52056,Disorder,[Malformation syndrome],Ulnar/fibula ray defect-brachydactyly syndrome,[Morava-Mehes syndrome],"A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.",[608571],,,,,,,, +GARD:16655,Active,Orphanet,ORPHA:52427,Disorder,[Disease],Retinitis punctata albescens,[RPA],A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.,[136880],,,,,,,, +GARD:16656,Active,Orphanet,ORPHA:53583,Disorder,[Disease],Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,"[DYT9, Episodic choreoathetosis/spasticity]","A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age.",[601042],,,,,,,, +GARD:16657,Active,Orphanet,ORPHA:53691,Disorder,[Morphological anomaly],Congenital cornea plana,,"A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.","[217300, 121400]",,,,,,,, +GARD:16658,Active,Orphanet,ORPHA:53696,Disorder,[Malformation syndrome],Arthrogryposis-anterior horn cell disease syndrome,"[AAHD, Vuopala disease]","A rare arthrogryposis syndrome characterized by the association of arthrogryposis multiplex congenita and a severe form of motor neuron disease with loss of anterior horn cells in the spinal cord. Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies, such as low-set ears, hypoplastic jaw, and short neck, as well as hypotonia and respiratory insufficiency. Some patients may survive into childhood and show developmental delay, markedly decreased muscle bulk, dystonic and involuntary movements, ataxia, and poor speech.",[611890],,,,,,,, +GARD:16659,Active,Orphanet,ORPHA:54057,Disorder,[Disease],Thrombotic thrombocytopenic purpura,"[Moschcowitz disease, TTP]","An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form.",[274150],,,,,,,, +GARD:1666,Active,Orphanet,ORPHA:2181,Disorder,[Malformation syndrome],Hydrocephaly-tall stature-joint laxity syndrome,[Daish-Hardman-Lamont syndrome],"Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.",[236660],,,,,Daish Hardman Lamont syndrome,TRUE,FALSE,Active +GARD:16660,Active,Orphanet,ORPHA:55881,Disorder,[Disease],Adamantinoma,[Adamantinoma of long bones],"A rare, primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most cases are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed.",[102660],,,,,,,, +GARD:16661,Active,Orphanet,ORPHA:59298,Disorder,[Disease],Schilder disease,[Myelinoclastic diffuse sclerosis],Schilder's disease is a progressive demyelinating disorder of the central nervous system.,[272100],,,,,,,, +GARD:16662,Active,Orphanet,ORPHA:60015,Disorder,[Malformation syndrome],Enlarged parietal foramina,"[Catlin marks, Fenestrae parietales symmetricae, Foramina parietalia permagna, Hereditary cranium bifidum, Symmetric parietal foramina]","Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.","[609597, 168500, 609566]",,,,,,,, +GARD:16663,Active,Orphanet,ORPHA:60026,Disorder,[Disease],Pulmonary nodular lymphoid hyperplasia,[Pulmonary pseudolymphoma],Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.,[178610],,,,,,,, +GARD:16664,Active,Orphanet,ORPHA:60033,Disorder,[Disease],Idiopathic bronchiectasis,,"Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).","[613071, 613021, 211400]",,,,,,,, +GARD:16665,Active,Orphanet,ORPHA:63269,Subtype of disorder,[Clinical subtype],Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis,[Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome],,[201750],,,,,,,, +GARD:16666,Active,Orphanet,ORPHA:63273,Disorder,[Disease],Distal myopathy with posterior leg and anterior hand involvement,[Distal ABD-filaminopathy],"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.",[614065],,,,,,,, +GARD:16667,Active,Orphanet,ORPHA:64280,Disorder,[Disease],Childhood absence epilepsy,[Pyknolepsy],"Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.","[611942, 607681, 612269, 611136, 600131]",,,,,,,, +GARD:16668,Active,Orphanet,ORPHA:64739,Disorder,[Disease],Ovarian hyperstimulation syndrome,[OHSS],"A rare non-malformative gynecological disease affecting pre-menopausal women usually following treatment with ovarian stimulating hormones, characterized by ovarian enlargement and, to varying degrees, shift of serum from the intravascular space to the third space, mainly into the peritoneal, pleural, and to a lesser extent to the pericardial cavities. Presenting symptoms include abdomen distention, pain, nausea, and vomiting. Severity ranges from mild to life-threatening and is complicated by increased risk of thrombosis, acute hepato-renal failure, acute respiratory distress syndrome, and ovarian torsion and rupture.",[608115],,,,,,,, +GARD:16669,Active,Orphanet,ORPHA:65287,Disorder,[Disease],Beta-ureidopropionase deficiency,[Beta-alanine synthase deficiency],"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).",[613161],,,,,,,, +GARD:1667,Legacy,GARD,,,,,,,,,,,,Dandy-Walker malformation with facial hemangioma,TRUE,FALSE,Retired +GARD:16670,Active,Orphanet,ORPHA:65288,Disorder,[Malformation syndrome],Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,[Pancreatic and cerebellar agenesis],Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.,[609069],,,,,,,, +GARD:16671,Active,Orphanet,ORPHA:65683,Disorder,[Disease],Isolated focal cortical dysplasia,[Epilepsy due to FCD],"Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.",[607341],,,,,,,, +GARD:16672,Active,Orphanet,ORPHA:65720,Disorder,[Malformation syndrome],Arthrogryposis-severe scoliosis syndrome,"[Distal arthrogryposis type 4, Distal arthrogryposis type IID]","Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.",[609128],,,,,,,, +GARD:16673,Active,Orphanet,ORPHA:66630,Disorder,[Disease],Congenital pseudoarthrosis of the clavicle,[Congenital pseudarthrosis of the clavicle],"Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.",[118980],,,,,,,, +GARD:16674,Active,Orphanet,ORPHA:66637,Disorder,[Malformation syndrome],Diaphanospondylodysostosis,,"Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.",[608022],,,,,,,, +GARD:16675,Active,Orphanet,ORPHA:67041,Disorder,[Disease],Hyaluronidase deficiency,"[MPS9, MPSIX, Mucopolysaccharidosis type 9, Mucopolysaccharidosis type IX]","A rare form of mucopolysaccharidosis characterized by abnormal storage of hyaluronan in lysosomes due to deficiency of hyaluronidase 1. Clinical manifestations include knee and/or hip pain associated with swelling, diffuse joint involvement with proliferative synovitis and occurrence of multiple periarticular soft-tissue masses, short stature, and dysmorphic craniofacial features (such as flattened nasal bridge, bifid uvula, and cleft palate).",[601492],,,,,,,, +GARD:16676,Active,Orphanet,ORPHA:67044,Disorder,[Disease],Thrombocytopenia with congenital dyserythropoietic anemia,"[Congenital dyserythropoietic anemia with thombocytopenia, X-linked congenital dyserythropoietic anemia with thrombocytopenia, XDAT]","Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.",[300367],,,,,,,, +GARD:16677,Active,Orphanet,ORPHA:67045,Subtype of disorder,[Clinical subtype],X-linked intellectual disability with isolated growth hormone deficiency,[MRGH],,[300123],,,,,,,, +GARD:16678,Active,Orphanet,ORPHA:69061,Disorder,[Clinical syndrome],Idiopathic steroid-sensitive nephrotic syndrome,,"A rare primary glomerulopathy of unknown cause characterized by edema, nephrotic-range proteinuria and hypoalbuminemia that responds to standard prednisone treatment within 4-6 weeks.",[615861],,,,,,,, +GARD:16679,Active,Orphanet,ORPHA:69082,Disorder,[Malformation syndrome],Odonto-tricho-ungual-digito-palmar syndrome,"[OTUDP syndrome, Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type]","A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997.",[601957],,,,,,,, +GARD:16680,Active,Orphanet,ORPHA:69084,Disorder,[Malformation syndrome],Pure hair and nail ectodermal dysplasia,"[HNED, Hair-nail ectodermal dysplasia, PHNED]","Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.","[614929, 614927, 602032, 614931, 614928]",,,,,,,, +GARD:16681,Active,Orphanet,ORPHA:69088,Disorder,[Disease],Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,[OL-EDA-ID],"This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.",[300291],,,,,,,, +GARD:16682,Active,Orphanet,ORPHA:69125,Disorder,[Malformation syndrome],Anonychia with flexural pigmentation,,"A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975.",[106750],,,,,,,, +GARD:16683,Active,Orphanet,ORPHA:69663,Disorder,[Disease],Low phospholipid-associated cholelithiasis,"[ABCB4-related cholelithiasis, LPAC]",A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.,[600803],,,,,,,, +GARD:16684,Active,Orphanet,ORPHA:69737,Disorder,[Malformation syndrome],Bosley-Salih-Alorainy syndrome,,"Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.",[601536],,,,,,,, +GARD:16685,Active,Orphanet,ORPHA:70474,Disorder,[Disease],Leigh syndrome with cardiomyopathy,"[Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency, Cardiomyopathy with myopathy due to COX deficiency, Leigh disease with myopathy]",,"[618228, 618252, 256000]",,,,,,,, +GARD:16686,Active,Orphanet,ORPHA:71271,Disorder,[Malformation syndrome],Split hand-split foot-deafness syndrome,[Split hand-split foot-hearing loss syndrome],"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.",[220600],,,,,,,, +GARD:16687,Active,Orphanet,ORPHA:71289,Disorder,[Malformation syndrome],Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,[ATRUS syndrome],Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).,"[616738, 605432]",,,,,,,, +GARD:16688,Active,Orphanet,ORPHA:71493,Disorder,[Disease],Familial thrombocytosis,"[Familial thrombocythemia, Hereditary thrombocythemia]","Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.","[614521, 187950, 601977]",,,,,,,, +GARD:16689,Active,Orphanet,ORPHA:71528,Subtype of disorder,[Etiological subtype],Obesity due to prohormone convertase I deficiency,[PCI deficiency],"A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients.",[600955],,,,,,,, +GARD:1669,Active,Orphanet,ORPHA:1566,Disorder,[Malformation syndrome],Dandy-Walker malformation-postaxial polydactyly syndrome,"[DWM with postaxial polydactyly, Pierquin syndrome]","A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.",[220220],,,,,Dandy-Walker malformation with postaxial polydactyly,TRUE,FALSE,Active +GARD:16690,Active,Orphanet,ORPHA:71529,Subtype of disorder,[Etiological subtype],Obesity due to melanocortin 4 receptor deficiency,[MC4R deficiency],"Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.","[618406, 601665]",,,,,,,, +GARD:16691,Active,Orphanet,ORPHA:73271,Disorder,[Disease],Bleeding diathesis due to a collagen receptor defect,,"Bleeding diathesis due to a collagen receptor defect is a rare, genetic coagulation disorder characterized by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia.","[614200, 614201]",,,,,,,, +GARD:16692,Active,Orphanet,ORPHA:75249,Disorder,[Disease],Familial isolated restrictive cardiomyopathy,[Familial or idiopathic restrictive cardiomyopathy],A rare genetic cardiac disease characterized by restrictive ventricular filling due to high ventricular stiffness that results in severe diastolic dysfunction in the absence of dilated or hypertrophied ventricles.,"[615248, 612422, 115210, 617047, 609578]",,,,,,,, +GARD:16693,Active,Orphanet,ORPHA:75326,Disorder,[Disease],Retinal arterial tortuosity,"[Familial isolated retinal arterial tortuosity, Retinal arteriolar tortuosity, Retinal hemorrhage with vascular tortuosity, Tortuosity of retinal arteries]","A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma.",[180000],,,,,,,, +GARD:16694,Active,Orphanet,ORPHA:75381,Disorder,[Disease],Cystoid macular dystrophy,"[Autosomal dominant cystoid macular edema, DCMD, Familial macular edema]","Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis.",[153880],,,,,,,, +GARD:16695,Active,Orphanet,ORPHA:75391,Disorder,[Disease],Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,[Primary immunodeficiency due to MCM4 deficiency],"A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.",[609981],,,,,,,, +GARD:16696,Active,Orphanet,ORPHA:79076,Subtype of disorder,[Clinical subtype],Juvenile polyposis of infancy,[Infantile juvenile polyposis syndrome],"Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.","[175050, 612242]",,,,,,,, +GARD:16697,Active,Orphanet,ORPHA:79094,Disorder,[Malformation syndrome],Grange syndrome,"[Grange occlusive arterial syndrome, Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome]","Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.",[602531],,,,,,,, +GARD:16698,Active,Orphanet,ORPHA:79106,Disorder,[Malformation syndrome],Eiken syndrome,,"A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.",[600002],,,,,,,, +GARD:16699,Active,Orphanet,ORPHA:79118,Disorder,[Disease],Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,,"A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others.",[610199],,,,,,,, +GARD:16700,Active,Orphanet,ORPHA:79128,Disorder,[Disease],Lymphoid interstitial pneumonia,[Lymphocytic interstitial pneumonia],"A rare idiopathic interstitial pneumonia characterized by a diffuse, dense, polyclonal lymphoid cell infiltration of the pulmonary interstitium and air spaces, with high prevalence in patients with immune dysregulation. Presenting symptoms are non-specific and include dyspnea and cough. The clinical course is highly variable, ranging from spontaneous resolution to progressive, fatal respiratory failure.",[247610],,,,,,,, +GARD:16701,Active,Orphanet,ORPHA:79134,Disorder,[Disease],DEND syndrome,[Developmental delay-epilepsy-neonatal diabetes syndrome],"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.",[606176],,,,,,,, +GARD:16702,Active,Orphanet,ORPHA:79135,Disorder,[Disease],Episodic ataxia type 3,[Episodic ataxia-vertigo-tinnitus-myokymia syndrome],"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.",[606554],,,,,,,, +GARD:16703,Active,Orphanet,ORPHA:79136,Disorder,[Disease],Episodic ataxia type 4,"[PATX, Periodic vestibulocerebellar ataxia]","Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.",[606552],,,,,,,, +GARD:16704,Active,Orphanet,ORPHA:79137,Disorder,[Disease],Generalized epilepsy-paroxysmal dyskinesia syndrome,[GEPD],"Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.",[609446],,,,,,,, +GARD:16705,Active,Orphanet,ORPHA:79141,Disorder,[Disease],Hereditary painful callosities,"[Keratosis palmoplantaris nummularis, PPK nummularis, Plamoplantar hyperkeratosis nummularis, Plamoplantar keratoderma nummularis]","A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed.",[114140],,,,,,,, +GARD:16706,Active,Orphanet,ORPHA:79146,Disorder,[Disease],Familial progressive hyperpigmentation,"[Melanosis diffusa congenita, Melanosis universalis hereditaria, Universal melanosis]","Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.","[614233, 145250]",,,,,,,, +GARD:16707,Active,Orphanet,ORPHA:79151,Disorder,[Disease],Acrokeratosis verruciformis of Hopf,[AKV of Hopf],"A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic 'church spire' appearance, with no acantholysis nor dyskeratosis associated.",[101900],,,,,,,, +GARD:16708,Active,Orphanet,ORPHA:79154,Disorder,[Disease],2-aminoadipic 2-oxoadipic aciduria,[Alpha-aminoadipic aciduria],"2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical phenotype.",[204750],,,,,,,, +GARD:16709,Active,Orphanet,ORPHA:79156,Disorder,[Disease],Seizures-intellectual disability due to hydroxylysinuria syndrome,,"A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.",[236900],,,,,,,, +GARD:1671,Active,Orphanet,ORPHA:2091,Disorder,[Malformation syndrome],Multinodular goiter-cystic kidney-polydactyly syndrome,"[Daneman-Davy-Mancer syndrome, Thyroid-renal-digital anomalies]","Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.",[138790],,,,,Daneman Davy Mancer syndrome,TRUE,FALSE,Active +GARD:16710,Active,Orphanet,ORPHA:79233,Disorder,[Disease],Hypoxanthine guanine phosphoribosyltransferase partial deficiency,"[HPRT deficiency, grade I, HPRT partial deficiency, HPRT-related gout, HPRT-related hyperuricemia, HPRT1 partial deficiency, Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency, Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I, Kelley-Seegmiller syndrome]","Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.",[300323],,,,,,,, +GARD:16711,Active,Orphanet,ORPHA:79240,Disorder,[Disease],Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,"[GSD due to liver and muscle phosphorylase kinase deficiency, GSD type 9B, GSD type IXb, Glycogen storage disease type 9B, Glycogen storage disease type IXb, Glycogenosis due to liver and muscle phosphorylase kinase deficiency, Glycogenosis type 9B, Glycogenosis type IXb]",A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.,[261750],,,,,,,, +GARD:16712,Active,Orphanet,ORPHA:79244,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E2 deficiency,"[Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency, Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase complex component E2 deficiency]","A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.",[245348],,,,,,,, +GARD:16713,Active,Orphanet,ORPHA:79302,Disorder,[Disease],Congenital bile acid synthesis defect type 3,"[BASD3, Oxysterol 7-alpha-hydroxylase deficiency]",Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.,[613812],,,,,,,, +GARD:16714,Active,Orphanet,ORPHA:79312,Subtype of disorder,[Clinical subtype],Vitamin B12-unresponsive methylmalonic acidemia type mut-,"[Partial deficiency of methylmalonyl-CoA mutase, Vitamin B12-unresponsive methylmalonic aciduria type mut-]","Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.",[251000],,,,,,,, +GARD:16715,Active,Orphanet,ORPHA:79346,Disorder,[Malformation syndrome],"Chondrodysplasia punctata, tibial-metacarpal type",,"A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.",[118651],,,,,,,, +GARD:16716,Active,Orphanet,ORPHA:79347,Disorder,[Malformation syndrome],"Chondrodysplasia punctata, Toriello type",[Toriello-Higgins-Miller syndrome],"Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.",[215105],,,,,,,, +GARD:16717,Active,Orphanet,ORPHA:79350,Subtype of disorder,[Etiological subtype],"3-phosphoserine phosphatase deficiency, infantile/juvenile form","[PSPH deficiency, infantile/juvenile form]","3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).",[614023],,,,,,,, +GARD:16718,Active,Orphanet,ORPHA:79351,Subtype of disorder,[Etiological subtype],"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form","[PHGDH deficiency, infantile/juvenile form]","3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form",[601815],,,,,,,, +GARD:16719,Active,Orphanet,ORPHA:79395,Disorder,[Disease],Keratoderma hereditarium mutilans with ichthyosis,"[Camisa disease, Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome, Loricrin keratoderma, Vohwinkel syndrome with ichthyosis]","Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.",[604117],,,,,,,, +GARD:1672,Legacy,GARD,,,,,,,,,,,,Davenport Donlan syndrome,TRUE,FALSE,Active +GARD:16720,Active,Orphanet,ORPHA:79409,Disorder,[Disease],Recessive dystrophic epidermolysis bullosa inversa,"[RDEB inversa, RDEB-I]",A rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which from adolescence or early adulthood are primarily confined to flexural skin sites.,[226600],,,,,,,, +GARD:16721,Active,Orphanet,ORPHA:79431,Subtype of disorder,[Clinical subtype],Oculocutaneous albinism type 1A,"[OCA1A, Tyrosinase-negative oculocutaneous albinism]","A severe form of oculocutaneous albinism type 1 (OCA1) characterized by complete absence of melanin and manifesting as white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.",[203100],,,,,,,, +GARD:16722,Active,Orphanet,ORPHA:79435,Disorder,[Disease],Oculocutaneous albinism type 4,[OCA4],"A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.",[606574],,,,,,,, +GARD:16723,Active,Orphanet,ORPHA:79457,Disorder,[Disease],Maculopapular cutaneous mastocytosis,[Urticaria pigmentosa],"Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.",[154800],,,,,,,, +GARD:16724,Active,Orphanet,ORPHA:79506,Disorder,[Disease],Cholesterol-ester transfer protein deficiency,"[CEPT deficiency, Familial hyperalphalipoproteinemia]",,"[143470, 614028]",,,,,,,, +GARD:16725,Active,Orphanet,ORPHA:79507,Disorder,[Disease],Hypotonia-failure to thrive-microcephaly syndrome,"[LTC4 synthase deficiency, Leukotriene C4 synthase deficiency]","Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.",[614037],,,,,,,, +GARD:16726,Active,Orphanet,ORPHA:79643,Disorder,[Disease],Autosomal recessive hyperinsulinism due to SUR1 deficiency,[Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency],"A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.",[256450],,,,,,,, +GARD:16727,Active,Orphanet,ORPHA:79644,Disorder,[Disease],Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,[Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency],"A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.",[601820],,,,,,,, +GARD:16728,Active,Orphanet,ORPHA:83454,Disorder,[Malformation syndrome],Glomuvenous malformation,"[Glomangiomatosis, Hereditary multiple glomangiomas, Multiple glomus tumors, VMGLOM, Venous malformations with glomus cells]","A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.",[138000],,,,,,,, +GARD:16729,Active,Orphanet,ORPHA:83620,Disorder,[Disease],Enteric anendocrinosis,[Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells],"A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.",[610370],,,,,,,, +GARD:16730,Active,Orphanet,ORPHA:84081,Disorder,[Disease],Senior-Boichis syndrome,"[Boichis disease, Nephronophthisis-hepatic fibrosis syndrome]","A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.","[616217, 613550]",,,,,,,, +GARD:16731,Active,Orphanet,ORPHA:84093,Disorder,[Disease],Hereditary thermosensitive neuropathy,,"Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.",[602107],,,,,,,, +GARD:16732,Active,Orphanet,ORPHA:84132,Disorder,[Disease],Desmin-related myopathy with Mallory body-like inclusions,[Early-onset desmin-related myopathy],,[602771],,,,,,,, +GARD:16733,Active,Orphanet,ORPHA:85112,Disorder,[Disease],Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,[Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome],"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.",[610644],,,,,,,, +GARD:16734,Active,Orphanet,ORPHA:85128,Disorder,[Disease],Bothnia retinal dystrophy,[Västerbotten dystrophy],"Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted.",[607475],,,,,,,, +GARD:16735,Active,Orphanet,ORPHA:85169,Disorder,[Malformation syndrome],Familial digital arthropathy-brachydactyly,,"Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.",[606835],,,,,,,, +GARD:16736,Active,Orphanet,ORPHA:85172,Disorder,[Disease],"Microcephalic osteodysplastic dysplasia, Saul-Wilson type",,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).",[618150],,,,,,,, +GARD:16737,Active,Orphanet,ORPHA:85184,Disorder,[Malformation syndrome],"Craniometadiaphyseal dysplasia, wormian bone type",,"Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.",[269300],,,,,,,, +GARD:16738,Active,Orphanet,ORPHA:85188,Disorder,[Malformation syndrome],"Metaphyseal dysplasia, Braun-Tinschert type",,"Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.",[605946],,,,,,,, +GARD:16739,Active,Orphanet,ORPHA:85192,Disorder,[Malformation syndrome],Calvarial doughnut lesions-bone fragility syndrome,[Familial doughnut lesions of skull],"A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic clavarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.",[126550],,,,,,,, +GARD:1674,Legacy,GARD,,,,,,,,,,,,Davis Lafer syndrome,TRUE,FALSE,Retired +GARD:16740,Active,Orphanet,ORPHA:85194,Disorder,[Malformation syndrome],Spondylo-ocular syndrome,,"Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.",[605822],,,,,,,, +GARD:16741,Active,Orphanet,ORPHA:85197,Disorder,[Disease],Genochondromatosis type 1,,"Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.",[137360],,,,,,,, +GARD:16742,Active,Orphanet,ORPHA:85276,Disorder,[Malformation syndrome],"X-linked intellectual disability, Armfield type",[Armfield syndrome],"X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.",[300261],,,,,,,, +GARD:16743,Active,Orphanet,ORPHA:85277,Disorder,[Malformation syndrome],"X-linked intellectual disability, Cantagrel type",,"A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.",[300912],,,,,,,, +GARD:16744,Active,Orphanet,ORPHA:85279,Disorder,[Malformation syndrome],KDM5C-related syndromic X-linked intellectual disability,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems.",[300534],,,,,,,, +GARD:16745,Active,Orphanet,ORPHA:85280,Disorder,[Malformation syndrome],X-linked intellectual disability-cubitus valgus-dysmorphism syndrome,,"X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.",[300471],,,,,,,, +GARD:16746,Active,Orphanet,ORPHA:85284,Disorder,[Malformation syndrome],BRESEK syndrome,[BRESHECK syndrome],"X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).",[308205],,,,,,,, +GARD:16747,Active,Orphanet,ORPHA:85290,Disorder,[Malformation syndrome],"X-linked intellectual disability, Wilson type",,"X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.",[309545],,,,,,,, +GARD:16748,Active,Orphanet,ORPHA:85294,Disorder,[Disease],X-linked epilepsy-learning disabilities-behavior disorders syndrome,,"X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).",[300491],,,,,,,, +GARD:16749,Active,Orphanet,ORPHA:85295,Subtype of disorder,[Clinical subtype],"HSD10 disease, atypical type","[HSD10 deficiency, atypical type, Syndromic X-linked intellectual disability type 10, X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome]",,[300438],,,,,,,, +GARD:16750,Active,Orphanet,ORPHA:85321,Disorder,[Malformation syndrome],"Deafness-intellectual disability syndrome, Martin-Probst type","[Hearing loss-intellectual disability syndrome, Martin-Probst type, Martin-Probst syndrome, X-linked deafness-intellectual disability syndrome syndrome, X-linked hearing loss-intellectual disability syndrome syndrome]","A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.",[300519],,,,,,,, +GARD:16751,Active,Orphanet,ORPHA:85324,Disorder,[Malformation syndrome],"X-linked intellectual disability, Shrimpton type",[MRXS9],"An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.",[300709],,,,,,,, +GARD:16752,Active,Orphanet,ORPHA:85329,Disorder,[Malformation syndrome],X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,,"A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.",[304340],,,,,,,, +GARD:16753,Active,Orphanet,ORPHA:85335,Disorder,[Malformation syndrome],Fried syndrome,,"Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.",[304340],,,,,,,, +GARD:16754,Active,Orphanet,ORPHA:85447,Disorder,[Disease],ATTRV30M amyloidosis,"[ATTRV30M-related amyloidosis, Familial amyloid polyneuropathy type I, Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type, TTR amyloid neuropathy, Transthyretin amyloid neuropathy, Transthyretin amyloid polyneuropathy]",Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.,[105210],,,,,,,, +GARD:16755,Active,Orphanet,ORPHA:85451,Disorder,[Disease],ATTRV122I amyloidosis,"[ATTR cardiomyopathy, ATTRV122I-related amyloidosis, TTR-related amyloid cardiomyopathy, TTR-related cardiac amyloidosis, Transthyretin amyloid cardiopathy, Transthyretin-related familial amyloid cardiomyopathy]",Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.,[105210],,,,,,,, +GARD:16756,Active,Orphanet,ORPHA:85453,Disorder,[Disease],X-linked reticulate pigmentary disorder,"[Familial cutaneous amyloidosis, PDR, Partington disease, X-linked cutaneous amyloidosis, XLPDR]","X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.",[301220],,,,,,,, +GARD:16757,Active,Orphanet,ORPHA:86813,Disorder,[Disease],Helicoid peripapillary chorioretinal degeneration,"[Atrophia areata, SCRA, Sveinsson chorioretinal atrophy]","Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.",[108985],,,,,,,, +GARD:16758,Active,Orphanet,ORPHA:86814,Disorder,[Disease],Benign adult familial myoclonic epilepsy,"[ADCME, Autosomal dominant cortical myoclonus and epilepsy, BAFME, Benign adult familial myoclonus epilepsy, FAME, FCMTE, Familial adult myoclonic epilepsy, Familial cortical myoclonic tremor and epilepsy]","Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.","[613608, 615400, 607876, 601068, 615127]",,,,,,,, +GARD:16759,Active,Orphanet,ORPHA:86815,Disorder,[Disease],Aplasia of lacrimal and salivary glands,"[ALSG, Congenital absence of lacrimal puncta and salivary glands]","A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.",[180920],,,,,,,, +GARD:16760,Active,Orphanet,ORPHA:86817,Disorder,[Disease],Hemolytic anemia due to adenylate kinase deficiency,,Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.,[612631],,,,,,,, +GARD:16761,Active,Orphanet,ORPHA:86818,Disorder,[Disease],Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,"[AMME complex, AMME syndrome, ATS-MR]","A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.","[300194, 300990]",,,,,,,, +GARD:16762,Active,Orphanet,ORPHA:86819,Disorder,[Disease],Atrichia with papular lesions,[Papular atrichia],"A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.",[209500],,,,,,,, +GARD:16763,Active,Orphanet,ORPHA:86822,Disorder,[Malformation syndrome],Lissencephaly type 3-metacarpal bone dysplasia syndrome,,"This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence (see these terms).",[601160],,,,,,,, +GARD:16764,Active,Orphanet,ORPHA:86830,Disorder,[Disease],"Chronic myeloproliferative disease, unclassifiable","[CMPD-U, Undifferentiated myeloproliferative disease]","Chronic myeloproliferative disease, unclassifiable is a hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.",[131440],,,,,,,, +GARD:16765,Active,Orphanet,ORPHA:86900,Disorder,[Disease],Interdigitating dendritic cell sarcoma,"[Interdigitating cell sarcoma, Reticulum cell sarcoma]","A rare dendritic cell tumor characterized by a neoplasm composed of spindle to ovoid cells with phenotypic features similar to those of interdigitating dendritic cells. Solitary lymph node involvement is common, although extranodal localization (in particular skin and soft tissue) has also been reported. Patients usually present with an asymptomatic mass, sometimes with systemic symptoms such as fatigue, fever, and night sweats. Generalized lymphadenopathy, splenomegaly, or hepatomegaly may be seen in rare cases. The clinical course is generally aggressive.",[267730],,,,,,,, +GARD:16766,Active,Orphanet,ORPHA:86919,Disorder,[Disease],Keratosis palmaris et plantaris-clinodactyly syndrome,[Palmoplantar keratoderma-clinodactyly syndrome],"Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.",[148520],,,,,,,, +GARD:16767,Active,Orphanet,ORPHA:86923,Disorder,[Disease],"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type","[Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type, PPK, Gamborg-Nielsen type]","Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive.",[244850],,,,,,,, +GARD:16768,Active,Orphanet,ORPHA:88629,Disorder,[Disease],Tritanopia,"[Blue colour blindness, Congenital tritanopia, Tritan colour blindness]",Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision.,[190900],,,,,,,, +GARD:16769,Active,Orphanet,ORPHA:88630,Disorder,[Malformation syndrome],Terminal osseous dysplasia-pigmentary defects syndrome,,"Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.",[300244],,,,,,,, +GARD:16770,Active,Orphanet,ORPHA:88635,Disorder,[Disease],Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,"[Myopathy due to calsequestrin and SERCA1 protein overload, Vacuolar aggregate myopathy]","A rare, genetic vaculolar myopathy characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.",[616231],,,,,,,, +GARD:16771,Active,Orphanet,ORPHA:88637,Subtype of disorder,[Clinical subtype],Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,[4H syndrome],,"[614381, 616494, 607694]",,,,,,,, +GARD:16772,Active,Orphanet,ORPHA:88659,Disorder,[Disease],Autosomal dominant progressive nephropathy with hypertension,,"A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.",[161900],,,,,,,, +GARD:16773,Active,Orphanet,ORPHA:88673,Group of disorders,[Clinical group],Hepatocellular carcinoma,[HCC],"Hepatocellular carcinoma is a primary hepatic cancer derived from well-differentiated hepatocytes. It is more frequent in adults than in childhood. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.",[114550],,,,,,,, +GARD:16774,Active,Orphanet,ORPHA:88917,Subtype of disorder,[Clinical subtype],X-linked Alport syndrome,,,[301050],,,,,,,, +GARD:16775,Active,Orphanet,ORPHA:88938,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2A,[PHA2A],,[145260],,,,,,,, +GARD:16776,Active,Orphanet,ORPHA:88939,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2B,[PHA2B],,[614491],,,,,,,, +GARD:16777,Active,Orphanet,ORPHA:88940,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2C,[PHA2C],,[614492],,,,,,,, +GARD:16778,Active,Orphanet,ORPHA:89838,Disorder,[Disease],Autosomal recessive generalized epidermolysis bullosa simplex,[Autosomal recessive generalized EBS],"A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation.",[601001],,,,,,,, +GARD:16779,Active,Orphanet,ORPHA:89843,Disorder,[Disease],Dystrophic epidermolysis bullosa pruriginosa,"[DEB pruriginosa, DEB-Pr, Pruriginous dystrophic epidermolysis bullosa]","A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.",[604129],,,,,,,, +GARD:16780,Active,Orphanet,ORPHA:89844,Subtype of disorder,[Clinical subtype],"Lissencephaly syndrome, Norman-Roberts type",[Microlissencephaly type A],"Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.",[257320],,,,,,,, +GARD:16781,Active,Orphanet,ORPHA:89937,Disorder,[Disease],Autosomal dominant hypophosphatemic rickets,"[ADHR, Autosomal dominant hypophosphatemia]","A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.",[193100],,,,,,,, +GARD:16782,Active,Orphanet,ORPHA:90001,Disorder,[Disease],X-linked cone dysfunction syndrome with myopia,[Bornholm eye disease],X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.,[300843],,,,,,,, +GARD:16783,Active,Orphanet,ORPHA:90023,Disorder,[Disease],Primary immunodeficiency syndrome due to LAMTOR2 deficiency,"[Primary immunodeficiency syndrome due to p14 deficiency, Primary immunodeficiency syndrome with short stature]","Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.",[610798],,,,,,,, +GARD:16784,Active,Orphanet,ORPHA:90030,Disorder,[Disease],Hemolytic anemia due to glutathione reductase deficiency,,Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.,"[618660, 618667]",,,,,,,, +GARD:16785,Active,Orphanet,ORPHA:90044,Disorder,[Disease],Familial pseudohyperkalemia,,"Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.",[609153],,,,,,,, +GARD:16786,Active,Orphanet,ORPHA:90103,Disorder,[Malformation syndrome],Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome,"[CMT-deafness-intellectual disability syndrome, Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome, Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers, Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers]","Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.",[214370],,,,,,,, +GARD:16787,Active,Orphanet,ORPHA:90120,Disorder,[Disease],Hereditary motor and sensory neuropathy type 6,"[CMT6, Charcot-Marie-Tooth disease type 6, HMSN 6, HMSN VI, Hereditary motor and sensory neuropathy type VI, Peripheral neuropathy and optic atrophy]","A rare axonal hereditary motor and sensory neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.","[616505, 601152]",,,,,,,, +GARD:16788,Active,Orphanet,ORPHA:90308,Disorder,[Disease],Klippel-Trénaunay syndrome,,,[149000],,,,,,,, +GARD:16789,Active,Orphanet,ORPHA:90368,Disorder,[Disease],Hypotrichosis simplex of the scalp,[Hereditary hypotrichosis simplex of the scalp],Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.,"[146520, 613981]",,,,,,,, +GARD:16790,Active,Orphanet,ORPHA:90625,Subtype of disorder,[Etiological subtype],X-linked non-syndromic sensorineural deafness type DFN,"[X-linked isolated neurosensory deafness type DFN, X-linked isolated neurosensory hearing loss type DFN, X-linked isolated sensorineural deafness type DFN, X-linked isolated sensorineural hearing loss type DFN, X-linked non-syndromic neurosensory deafness type DFN, X-linked non-syndromic neurosensory hearing loss type DFN, X-linked non-syndromic sensorineural hearing loss type DFN]",,"[300030, 300066, 300914, 304500]",,,,,,,, +GARD:16791,Active,Orphanet,ORPHA:90635,Subtype of disorder,[Etiological subtype],Autosomal dominant non-syndromic sensorineural deafness type DFNA,"[Autosomal dominant isolated neurosensory deafness type DFNA, Autosomal dominant isolated neurosensory hearing loss type DFNA, Autosomal dominant isolated sensorineural deafness type DFNA, Autosomal dominant isolated sensorineural hearing loss type DFNA, Autosomal dominant non-syndromic neurosensory deafness type DFNA, Autosomal dominant non-syndromic neurosensory hearing loss type DFNA, Autosomal dominant non-syndromic sensorineural hearing loss type DFNA]",,"[603964, 614614, 619274, 607841, 618410, 606346, 617606, 616357, 608372, 607683, 616969, 614152, 616707, 615649, 601543, 609965, 602459, 608645, 618787, 613074, 616697, 617663, 601316, 608641, 601868, 606282, 601412, 615654, 619081, 607017, 618094, 612643, 614211, 606705, 606451, 600652, 618140, 608652, 615629, 600994, 617605, 605583, 606012, 612431, 608394, 616968, 601317, 609129, 601369, 618915, 607453, 601544, 604717, 600965, 600101, 603622, 616044, 619086, 605192, 607197, 612642, 613558, 612644, 618778, 616340, 608224]",,,,,,,, +GARD:16792,Active,Orphanet,ORPHA:90641,Subtype of disorder,[Etiological subtype],Mitochondrial non-syndromic sensorineural deafness,"[Isolated mitochondrial neurosensory deafness, Isolated mitochondrial neurosensory hearing loss, Isolated mitochondrial sensorineural deafness, Isolated mitochondrial sensorineural hearing loss, Mitochondrial non-syndromic neurosensory deafness, Mitochondrial non-syndromic neurosensory hearing loss, Mitochondrial non-syndromic sensorineural hearing loss]",,"[221745, 304400, 500008, 580000]",,,,,,,, +GARD:16793,Active,Orphanet,ORPHA:90673,Disorder,[Disease],Hypothyroidism due to TSH receptor mutations,,"A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.",[275200],,,,,,,, +GARD:16794,Active,Orphanet,ORPHA:90796,Disorder,[Disease],"46,XY disorder of sex development due to isolated 17,20-lyase deficiency",,"46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.",[202110],,,,,,,, +GARD:16795,Active,Orphanet,ORPHA:91130,Disorder,[Disease],Cardiomyopathy-hypotonia-lactic acidosis syndrome,,"Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.",[610773],,,,,,,, +GARD:16796,Active,Orphanet,ORPHA:91135,Disorder,[Disease],Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,"[PXE-like syndrome, Pseudoxanthoma elasticum-like syndrome]",Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.,[610842],,,,,,,, +GARD:16797,Active,Orphanet,ORPHA:91396,Disorder,[Morphological anomaly],Isolated cryptophthalmia,,"Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.",[123570],,,,,,,, +GARD:16798,Active,Orphanet,ORPHA:91411,Disorder,[Disease],Congenital ptosis,,Congenital ptosis is characterized by superior eyelid drop present at birth.,"[178300, 300245, 616219]",,,,,,,, +GARD:16799,Active,Orphanet,ORPHA:91416,Disorder,[Disease],Isolated congenital alacrima,,Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.,"[103420, 601549]",,,,,,,, +GARD:1680,Active,Orphanet,ORPHA:1570,Disorder,[Malformation syndrome],Symbrachydactyly of hands and feet,[De Smet-Fabry-Fryns syndrome],"Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.",,,,,,Frints De Smet Fabry Fryns syndrome,TRUE,FALSE,Active +GARD:16800,Active,Orphanet,ORPHA:91490,Disorder,[Morphological anomaly],Isolated congenital sclerocornea,,"A rare corneal disorder characterized by non-inflammatory, non-progressive, bilateral ingrowth of vascularized, opaque scleral tissue into the peripheral cornea, obliterating the corneoscleral limbus and scleral sulcus. The condition is not associated with other ocular abnormalities.",[181700],,,,,,,, +GARD:16801,Active,Orphanet,ORPHA:91492,Disorder,[Disease],Early-onset non-syndromic cataract,,"A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.","[609741, 116200, 116700, 605387, 615274, 604219, 610425, 611391, 116600, 610019, 611544, 607304, 616509, 115665, 610202, 615188, 610623, 616279, 115660, 116800, 614422, 212500, 613763, 115800, 605749, 605728, 601547, 115700, 115650, 604307, 116100, 616851, 600881, 302200, 609376, 615277, 611597, 115900, 116400, 601202, 601885, 614691, 116300]",,,,,,,, +GARD:16802,Active,Orphanet,ORPHA:91494,Disorder,[Malformation syndrome],Macular coloboma-cleft palate-hallux valgus syndrome,,"Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.",[216800],,,,,,,, +GARD:16803,Active,Orphanet,ORPHA:91495,Disorder,[Disease],Persistent hyperplastic primary vitreous,"[Congenital retinal detachment, NCRNA disease, Non-syndromic congenital retinal non-attachment, PFVS, PHPV, Persistent fetal vasculature syndrome]","A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes.","[221900, 611308]",,,,,,,, +GARD:16804,Active,Orphanet,ORPHA:93100,Subtype of disorder,[Clinical subtype],"Renal agenesis, unilateral",,A form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.,[617805],,,,,,,, +GARD:16805,Active,Orphanet,ORPHA:93160,Disorder,[Disease],Hypocalcemic vitamin D-resistant rickets,"[HVDRR, Hereditary vitamin D-resistant rickets, VDDR II, VDRR II, Vitamin D-dependent rickets type II, Vitamin D-resistant rickets type II]","Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.","[600785, 277440, 619073]",,,,,,,, +GARD:16806,Active,Orphanet,ORPHA:93256,Disorder,[Malformation syndrome],Fragile X-associated tremor/ataxia syndrome,[FXTAS syndrome],Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.,[300623],,,,,,,, +GARD:16807,Active,Orphanet,ORPHA:93258,Subtype of disorder,[Clinical subtype],Pfeiffer syndrome type 1,[Classic Pfeiffer syndrome],,[101600],,,,,,,, +GARD:16808,Active,Orphanet,ORPHA:93259,Subtype of disorder,[Clinical subtype],Pfeiffer syndrome type 2,,,[101600],,,,,,,, +GARD:16809,Active,Orphanet,ORPHA:93260,Subtype of disorder,[Clinical subtype],Pfeiffer syndrome type 3,,,[101600],,,,,,,, +GARD:16810,Active,Orphanet,ORPHA:93262,Disorder,[Malformation syndrome],Crouzon syndrome-acanthosis nigricans syndrome,[Crouzon-dermoskeletal syndrome],"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).",[612247],,,,,,,, +GARD:16811,Active,Orphanet,ORPHA:93267,Disorder,[Malformation syndrome],Cloverleaf skull-multiple congenital anomalies syndrome,,"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.",[607161],,,,,,,, +GARD:16812,Active,Orphanet,ORPHA:93279,Disorder,[Disease],Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,,"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.",[604864],,,,,,,, +GARD:16813,Active,Orphanet,ORPHA:93282,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, PAPSS2 type","[Spondyloepimetaphyseal dysplasia, Pakistani type]","Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.",[612847],,,,,,,, +GARD:16814,Active,Orphanet,ORPHA:93283,Disorder,[Disease],"Spondyloepiphyseal dysplasia, Kimberley type",,"Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.",[608361],,,,,,,, +GARD:16815,Active,Orphanet,ORPHA:93297,Subtype of disorder,[Clinical subtype],Hypochondrogenesis,,,[200610],,,,,,,, +GARD:16816,Active,Orphanet,ORPHA:93302,Disorder,[Malformation syndrome],"Brachyolmia, Maroteaux type",[Brachyolmia type 2],"A rare genetic spondylodysplastic dysplasia characterized by short trunk/short stature, generalized platyspondyly with rounding of vertebral bodies. The vertebral bodies show less elongation compared to patients with other types of the disorder. Precocious calcification of the cerebral falx and non-specific minor facial anomalies may be associated. There have been no new reports since 1989.",[613678],,,,,,,, +GARD:16817,Active,Orphanet,ORPHA:93334,Disorder,[Morphological anomaly],Postaxial polydactyly type A,,"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies.","[608562, 615226, 263450, 618219, 174200, 602085, 618498, 607324]",,,,,,,, +GARD:16818,Active,Orphanet,ORPHA:93335,Disorder,[Morphological anomaly],Postaxial polydactyly type B,,"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral.",[174200],,,,,,,, +GARD:16819,Active,Orphanet,ORPHA:93351,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Irapa type","[SEMD, Irapa type]","Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.",[271650],,,,,,,, +GARD:16820,Active,Orphanet,ORPHA:93398,Disorder,[Disease],Genochondromatosis type 2,,"Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.",[137360],,,,,,,, +GARD:16821,Active,Orphanet,ORPHA:93409,Disorder,[Malformation syndrome],"Brachydactyly-syndactyly, Zhao type",,"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.",[610713],,,,,,,, +GARD:16822,Active,Orphanet,ORPHA:93426,Group of disorders,[Category],Ciliopathies with major skeletal involvement,"[SRP, Short rib dysplasia]",,[617405],,,,,,,, +GARD:16823,Active,Orphanet,ORPHA:93581,Subtype of disorder,[Etiological subtype],Atypical hemolytic uremic syndrome with anti-factor H antibodies,"[Atypical HUS with anti-factor H antibodies, aHUS with anti-factor H antibodies, aHUS with neutralizing autoantibodies against factor H]",,[235400],,,,,,,, +GARD:16824,Active,Orphanet,ORPHA:93589,Subtype of disorder,[Clinical subtype],Late-onset nephronophthisis,,,"[617271, 613159, 604387]",,,,,,,, +GARD:16825,Active,Orphanet,ORPHA:93591,Subtype of disorder,[Clinical subtype],Infantile nephronophthisis,"[Autosomal recessive infantile NPHP, Autosomal recessive infantile nephronophthisis]","A rare clinical variant of hereditary nephronophthisis characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before 3 years of age.","[615382, 602088]",,,,,,,, +GARD:16826,Active,Orphanet,ORPHA:93607,Subtype of disorder,[Clinical subtype],Autosomal recessive proximal renal tubular acidosis,"[AR pRTA, Proximal renal tubular acidosis with ocular abnormalities and intellectual disability]","A rare autosomal recessive form of proximal renal tubular acidosis characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. Presentation is typically with hyperchloremic acidosis, usually occurring in childhood. Extrarenal manifestations include ocular abnormalities (band keratopathy, glaucoma, and cataracts), intellectual disability and severe growth retardation. Other features like dental enamel defects, basal ganglia calcification and pancreatitis are sometimes present.",[604278],,,,,,,, +GARD:16827,Active,Orphanet,ORPHA:93612,Subtype of disorder,[Etiological subtype],Cystinuria type A,,,[220100],,,,,,,, +GARD:16828,Active,Orphanet,ORPHA:93613,Subtype of disorder,[Etiological subtype],Cystinuria type B,,,[220100],,,,,,,, +GARD:16829,Active,Orphanet,ORPHA:93616,Subtype of disorder,[Clinical subtype],Hemoglobin H disease,"[Alpha-thalassemia intermedia, HbH disease]",An intermediate form of alpha-thalassemia characterized by increased hemolysis and mild to severe anemia with marked microcytosis and hypochromia. Hemoglobin H disease (HbH) disease belongs to the group of nontransfusion-dependent thalassemia.,[613978],,,,,,,, +GARD:16830,Active,Orphanet,ORPHA:93924,Subtype of disorder,[Clinical subtype],Lobar holoprosencephaly,,"A form of holoprosencephaly characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity only across the frontal neocortex, especially rostrally and ventrally. Craniofacial features are variable may include ocular hypotelorism, midline cleft lip (complete or partial) and/or flat nose amongst other features.","[609637, 610829, 157170]",,,,,,,, +GARD:16831,Active,Orphanet,ORPHA:93925,Subtype of disorder,[Clinical subtype],Alobar holoprosencephaly,,"A severe form of holoprosencephaly characterized by a single brain ventricle and no interhemispheric fissure. Severe craniofacial features may manifest as cyclopia, ethmocephaly or cebocephaly.","[609637, 301043, 610829, 157170]",,,,,,,, +GARD:16832,Active,Orphanet,ORPHA:93926,Subtype of disorder,[Clinical subtype],Midline interhemispheric variant of holoprosencephaly,"[MIH, MIH type HPE, MIHF, MIHV, Middle interhemispheric fusion variant, Middle interhemispheric variant of holoprosencephaly, Syntelencephaly]","Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.","[609637, 610829, 157170]",,,,,,,, +GARD:16833,Active,Orphanet,ORPHA:93940,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 3,"[LTEC III, LTEC3, Laryngo-tracheo-esophageal cleft type 3]","A congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.",[215800],,,,,,,, +GARD:16834,Active,Orphanet,ORPHA:93952,Disorder,[Disease],"X-linked intellectual disability, Hedera type",[MRXSH],"X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.",[300423],,,,,,,, +GARD:16835,Active,Orphanet,ORPHA:93976,Disorder,[Morphological anomaly],Anotia,,"A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.",[600674],,,,,,,, +GARD:16836,Active,Orphanet,ORPHA:94122,Disorder,[Disease],"Cerebellar ataxia, Cayman type",[Cayman ataxia],"A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.",[601238],,,,,,,, +GARD:16837,Active,Orphanet,ORPHA:94150,Subtype of disorder,[Clinical subtype],Anonychia congenita totalis,,,[206800],,,,,,,, +GARD:16838,Active,Orphanet,ORPHA:95232,Disorder,[Disease],Lissencephaly due to LIS1 mutation,[PAFAH1B1-related lissencephaly],"Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.",[607432],,,,,,,, +GARD:16839,Active,Orphanet,ORPHA:95700,Disorder,[Disease],Familial adrenal hypoplasia with absent pituitary luteinizing hormone,"[Familial adrenal hypoplasia with absent pituitary LH, Familial adrenal hypoplasia, miniature type]","Familial adrenal hypoplasia with absent pituitary luteinizing hormone is a rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.",[202150],,,,,,,, +GARD:1684,Active,Orphanet,ORPHA:3232,Disorder,[Malformation syndrome],Deafness-ear malformation-facial palsy syndrome,"[Hearing loss-ear malformation-facial palsy syndrome, Sellars-Beighton syndrome]",Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.,[124490],,,,,Deafness conductive stapedial ear malformation facial palsy,TRUE,FALSE,Active +GARD:16840,Active,Orphanet,ORPHA:95706,Disorder,[Morphological anomaly],Non-syndromic posterior hypospadias,"[Hypospadias, severe form, Perineal, scrotal or penoscrotal hypospadias]","A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis.","[300633, 146450, 300856, 300758]",,,,,,,, +GARD:16841,Active,Orphanet,ORPHA:95712,Disorder,[Morphological anomaly],Thyroid ectopia,,"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.","[225250, 218700]",,,,,,,, +GARD:16842,Active,Orphanet,ORPHA:95713,Disorder,[Morphological anomaly],Athyreosis,,"A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.","[225250, 218700]",,,,,,,, +GARD:16843,Active,Orphanet,ORPHA:95716,Disorder,[Disease],Familial thyroid dyshormonogenesis,[Thyroid dyshormonogenesis],"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.","[274800, 274900, 274700, 274500, 607200, 274400]",,,,,,,, +GARD:16844,Active,Orphanet,ORPHA:95719,Disorder,[Morphological anomaly],Thyroid hemiagenesis,,"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.",[218700],,,,,,,, +GARD:16845,Active,Orphanet,ORPHA:96125,Disorder,[Malformation syndrome],Distal monosomy 6p,"[6p subtelomeric deletion syndrome, 6p25 microdeletion syndrome, Distal deletion 6p, Monosomy 6p25]","Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.",[612582],,,,,,,, +GARD:16846,Active,Orphanet,ORPHA:96147,Subtype of disorder,[Etiological subtype],Kleefstra syndrome due to 9q34 microdeletion,"[9q subtelomeric deletion syndrome, 9qSTDS, Kleefstra syndrome due to 9q subtelomeric deletion, Kleefstra syndrome due to del(9)(q34), Kleefstra syndrome due to monosomy 9q34]",,[610253],,,,,,,, +GARD:16847,Active,Orphanet,ORPHA:96168,Disorder,[Malformation syndrome],Monosomy 13q34,"[Del(13)(q34), Distal deletion 13q34, Subtelomeric deletion 13q34]","Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.",[619148],,,,,,,, +GARD:16848,Active,Orphanet,ORPHA:96184,Subtype of disorder,[Etiological subtype],Temple syndrome due to maternal uniparental disomy of chromosome 14,[UPD(14)mat],"A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).",[616222],,,,,,,, +GARD:16849,Active,Orphanet,ORPHA:96186,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 20,"[Maternal UPD(20), UPD(20)mat]","Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.",[617352],,,,,,,, +GARD:1685,Active,Orphanet,ORPHA:79500,Disorder,[Malformation syndrome],DOORS syndrome,"[Autosomal recessive deafness-onychodystrophy syndrome, Autosomal recessive hearing loss-onychodystrophy syndrome, DOOR syndrome, Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome, Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome, Deafness-onychoosteodystrophy-intellectual disability syndrome, Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome, Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome, Hearing loss-onychoosteodystrophy-intellectual disability syndrome]","A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.",[220500],,,,,DOOR syndrome,TRUE,FALSE,Active +GARD:16850,Active,Orphanet,ORPHA:96256,Group of disorders,[Clinical group],Somatotropic adenoma,[Somatotropinoma],,[102200],,,,,,,, +GARD:16851,Active,Orphanet,ORPHA:96265,Subtype of disorder,[Clinical subtype],Leydig cell hypoplasia due to complete LH resistance,"[46,XY DSD due to complete LH receptor inactivation, 46,XY DSD due to complete LH resistance, 46,XY DSD due to complete luteinizing hormone receptor inactivation, 46,XY DSD due to complete luteinizing hormone resistance, 46,XY disorder of sex development due to complete LH receptor inactivation, 46,XY disorder of sex development due to complete LH resistance, 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation, 46,XY disorder of sex development due to complete luteinizing hormone resistance, Leydig cell hypoplasia due to complete LH receptor inactivation, Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation, Leydig cell hypoplasia due to complete luteinizing hormone resistance]",,[238320],,,,,,,, +GARD:16852,Active,Orphanet,ORPHA:96266,Subtype of disorder,[Clinical subtype],Leydig cell hypoplasia due to partial LH resistance,"[46,XY DSD due to partial LH receptor inactivation, 46,XY DSD due to partial LH resistance, 46,XY DSD due to partial luteinizing hormone resistance, 46,XY disorder of sex developement due to partial LH receptor inactivation, 46,XY disorder of sex developement due to partial LH resistance, 46,XY disorder of sex developement due to partial luteinizing hormone resistance, Leydig cell hypoplasia due to partial LH receptor inactivation, Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation, Leydig cell hypoplasia due to partial luteinizing hormone resistance]",,[238320],,,,,,,, +GARD:16853,Active,Orphanet,ORPHA:97290,Disorder,[Disease],Familial papillary thyroid carcinoma with renal papillary neoplasia,[PTC-RCC],An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group.,[605642],,,,,,,, +GARD:16854,Active,Orphanet,ORPHA:97369,Subtype of disorder,[Etiological subtype],Renal tubular dysgenesis of genetic origin,,,[267430],,,,,,,, +GARD:16855,Active,Orphanet,ORPHA:98291,Group of disorders,[Category],Lymphoproliferative disease associated with primary immune disease,,,[619126],,,,,,,, +GARD:16856,Active,Orphanet,ORPHA:98434,Disorder,[Disease],Hereditary combined deficiency of vitamin K-dependent clotting factors,"[Hereditary combined deficiency of factors II, VII, IX and X]","Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.","[277450, 607473]",,,,,,,, +GARD:16857,Active,Orphanet,ORPHA:98553,Group of disorders,[Category],Developmental defect of the eye,,,"[216820, 120200]",,,,,,,, +GARD:16858,Active,Orphanet,ORPHA:98606,Disorder,[Malformation syndrome],Syndromic orbital border hypoplasia,[Urrets-Zavalia syndrome],"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.",[165600],,,,,,,, +GARD:16859,Active,Orphanet,ORPHA:98619,Disorder,[Disease],Rare isolated myopia,,"Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.","[608908, 615431, 614292]",,,,,,,, +GARD:1686,Active,Orphanet,ORPHA:3241,Disorder,[Malformation syndrome],Deafness-craniofacial syndrome,[Hearing loss-craniofacial syndrome],"Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.",[125230],,,,,Deafness craniofacial syndrome,TRUE,FALSE,Active +GARD:16860,Active,Orphanet,ORPHA:98676,Disorder,[Disease],Autosomal recessive isolated optic atrophy,[Autosomal recessive non-syndromic optic atrophy],"A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.","[617302, 258500, 616289, 616732]",,,,,,,, +GARD:16861,Active,Orphanet,ORPHA:98754,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,[UPD(15)mat],,[176270],,,,,,,, +GARD:16862,Active,Orphanet,ORPHA:98791,Disorder,[Malformation syndrome],Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,"[ATR syndrome linked to chromosome 16, ATR syndrome, deletion type, ATR-16 syndrome, Alpha thalassemia-intellectual disability syndrome, deletion type]","A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.",[141750],,,,,,,, +GARD:16863,Active,Orphanet,ORPHA:98835,Disorder,[Disease],Acute undifferentiated leukemia,"[Acute myeloid leukemia, minimal differentiation, FAB M0]","A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).",[601626],,,,,,,, +GARD:16864,Active,Orphanet,ORPHA:98852,Disorder,[Disease],Desquamative interstitial pneumonia,,"A rare idiopathic interstitial pneumonia characterized by extensive, diffuse intra-alveolar accumulation of pigment-laden macrophages, most commonly associated with long-term exposure to tobacco smoke. Patients present with slowly progressive shortness of breath on exertion and chronic cough with bilateral crackles. Digital clubbing is also frequently observed. Pulmonary function test reveals a restrictive pattern. Computed tomography typically shows diffuse ground-glass opacities with subpleural and lower zone predominance.",[263000],,,,,,,, +GARD:16865,Active,Orphanet,ORPHA:98853,Subtype of disorder,[Etiological subtype],Autosomal dominant Emery-Dreifuss muscular dystrophy,[EDMD2],,"[612998, 612999, 181350, 614302]",,,,,,,, +GARD:16866,Active,Orphanet,ORPHA:98855,Subtype of disorder,[Etiological subtype],Autosomal recessive Emery-Dreifuss muscular dystrophy,[EDMD3],,[616516],,,,,,,, +GARD:16867,Active,Orphanet,ORPHA:98868,Disorder,[Disease],Southeast Asian ovalocytosis,"[Hereditary ovalocytosis, Melanesian elliptocytosis, Melanesian ovalocytosis, SAO, Stomatocytic elliptocytosis]","Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.",[166900],,,,,,,, +GARD:16868,Active,Orphanet,ORPHA:98886,Subtype of disorder,[Etiological subtype],Bleeding diathesis due to integrin alpha2-beta1 deficiency,,,[614200],,,,,,,, +GARD:16869,Active,Orphanet,ORPHA:98904,Disorder,[Disease],Congenital myopathy with excess of thin filaments,[Actin myopathy],"A rare, genetic, congenital myopathy disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia, lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy.",[161800],,,,,,,, +GARD:1687,Active,Orphanet,ORPHA:3220,Disorder,[Malformation syndrome],Deafness-enamel hypoplasia-nail defects syndrome,"[Hearing loss-enamel hypoplasia-nail defects syndrome, Heimler syndrome]","A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.","[616617, 234580]",,,,,Deafness enamel hypoplasia nail defects,TRUE,FALSE,Active +GARD:16870,Active,Orphanet,ORPHA:98909,Disorder,[Disease],Desminopathy,[Desmin-related myofibrillar myopathy],"A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure.",[601419],,,,,,,, +GARD:16871,Active,Orphanet,ORPHA:98911,Disorder,[Disease],Distal myotilinopathy,,"A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.",[609200],,,,,,,, +GARD:16872,Active,Orphanet,ORPHA:98915,Subtype of disorder,[Etiological subtype],Synaptic congenital myasthenic syndromes,,,[603034],,,,,,,, +GARD:16873,Active,Orphanet,ORPHA:98916,Disorder,[Disease],Acute inflammatory demyelinating polyradiculoneuropathy,"[AIDP, Acute idiopathic demyelinating polyneuropathy, Acute inflammatory polyneuropathy, GBS, acute inflammatory demyelinating polyradiculoneuropathic form, Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form]",A rare inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS).,[139393],,,,,,,, +GARD:16874,Active,Orphanet,ORPHA:98934,Disorder,[Disease],Huntington disease-like 2,[HDL2],"A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia).",[606438],,,,,,,, +GARD:16875,Active,Orphanet,ORPHA:98942,Disorder,[Morphological anomaly],Coloboma of choroid and retina,,"Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.",[120200],,,,,,,, +GARD:16876,Active,Orphanet,ORPHA:98949,Subtype of disorder,[Clinical subtype],Complete cryptophthalmia,,,[123570],,,,,,,, +GARD:16877,Active,Orphanet,ORPHA:98955,Disorder,[Disease],Lisch epithelial corneal dystrophy,"[Band-shaped and whorled microcystic dystrophy of the corneal epithelium, LECD]","Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.",[300778],,,,,,,, +GARD:16878,Active,Orphanet,ORPHA:98959,Disorder,[Disease],Subepithelial mucinous corneal dystrophy,[SMCD],"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.",[612867],,,,,,,, +GARD:16879,Active,Orphanet,ORPHA:98970,Disorder,[Disease],Fleck corneal dystrophy,"[FCD, François-Neetens speckled corneal dystrophy]","Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.",[121850],,,,,,,, +GARD:1688,Active,Orphanet,ORPHA:3218,Disorder,[Malformation syndrome],Deafness-epiphyseal dysplasia-short stature syndrome,"[Chitty-Hall-Baraitser syndrome, Hearing loss-epiphyseal dysplasia-short stature syndrome]","A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.",[601351],,,,,"Deafness, epiphyseal dysplasia, short stature",TRUE,FALSE,Active +GARD:16880,Active,Orphanet,ORPHA:98971,Disorder,[Disease],Posterior amorphous corneal dystrophy,"[PACD, Posterior amorphous stromal dystrophy]",Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.,[612868],,,,,,,, +GARD:16881,Active,Orphanet,ORPHA:98972,Disorder,[Disease],Central cloudy dystrophy of François,"[CCDF, Central cloudy corneal dystrophy of François]","Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.",[217600],,,,,,,, +GARD:16882,Active,Orphanet,ORPHA:98973,Disorder,[Disease],Posterior polymorphous corneal dystrophy,"[PPCD, Posterior polymorphous dystrophy, Schlichting dystrophy]","A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.","[618031, 609140, 122000, 609141]",,,,,,,, +GARD:16883,Active,Orphanet,ORPHA:98977,Disorder,[Disease],Juvenile glaucoma,,"A primary early-onset glaucoma that is characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.","[611274, 137750, 231300, 608695, 610535, 608696]",,,,,,,, +GARD:16884,Active,Orphanet,ORPHA:98984,Subtype of disorder,[Clinical subtype],Pulverulent cataract,"[Coppock-like cataract, Dusty cataract]",,[116300],,,,,,,, +GARD:16885,Active,Orphanet,ORPHA:98985,Subtype of disorder,[Clinical subtype],Early-onset sutural cataract,[Early-onset cataract with Y-shaped suture opacities],,"[605728, 116100, 600881]",,,,,,,, +GARD:16886,Active,Orphanet,ORPHA:98990,Subtype of disorder,[Clinical subtype],Coralliform cataract,,,[115800],,,,,,,, +GARD:16887,Active,Orphanet,ORPHA:98991,Subtype of disorder,[Clinical subtype],Early-onset nuclear cataract,,,"[609376, 116400, 611391, 610019, 607304, 600881]",,,,,,,, +GARD:16888,Active,Orphanet,ORPHA:98992,Subtype of disorder,[Clinical subtype],Early-onset partial cataract,,,"[613763, 609376, 115800, 605728, 115660, 116400, 601202, 610019, 607304, 614422, 116300]",,,,,,,, +GARD:16889,Active,Orphanet,ORPHA:98993,Subtype of disorder,[Clinical subtype],Early-onset posterior polar cataract,,,"[613763, 600881]",,,,,,,, +GARD:1689,Legacy,GARD,,,,,,,,,,,,Deafness goiter stippled epiphyses,TRUE,FALSE,Active +GARD:16890,Active,Orphanet,ORPHA:99001,Disorder,[Disease],Butterfly-shaped pigment dystrophy,"[Butterfly-shaped pattern dystrophy, Butterfly-shaped pigmentary macular dystrophy]",A rare patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.,"[169150, 608970, 610125]",,,,,,,, +GARD:16891,Active,Orphanet,ORPHA:99002,Disorder,[Disease],Reticular dystrophy of the retinal pigment epithelium,,"A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.","[267800, 179840, 617175]",,,,,,,, +GARD:16892,Active,Orphanet,ORPHA:99051,Subtype of disorder,[Clinical subtype],Discrete fixed membranous subaortic stenosis,,,[271950],,,,,,,, +GARD:16893,Active,Orphanet,ORPHA:99067,Subtype of disorder,[Clinical subtype],Complete atrioventricular septal defect with ventricular hypoplasia,"[CAVC with ventricular hypoplasia, Complete AVSD with ventricular hypoplasia, Complete atrioventricular canal defect with ventricular hypoplasia, Complete atrioventricular septal defect with ventricular imbalance, Unbalanced complete atrioventricular canal]",,[615779],,,,,,,, +GARD:16894,Active,Orphanet,ORPHA:99068,Subtype of disorder,[Clinical subtype],Complete atrioventricular septal defect-tetralogy of Fallot,"[CAVC-tetralogy of Fallot, Complete AVSD-tetralogy of Fallot, Complete atrioventricular canal defect-tetralogy of Fallot]",,[615779],,,,,,,, +GARD:16895,Active,Orphanet,ORPHA:99092,Disorder,[Morphological anomaly],Interventricular septum aneurysm,,"Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.",[105805],,,,,,,, +GARD:16896,Active,Orphanet,ORPHA:99125,Disorder,[Morphological anomaly],Congenital total pulmonary venous return anomaly,,"A form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.",[106700],,,,,,,, +GARD:16897,Active,Orphanet,ORPHA:99135,Disorder,[Disease],6-phosphogluconate dehydrogenase deficiency,,"A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.",[619199],,,,,,,, +GARD:16898,Active,Orphanet,ORPHA:99141,Disorder,[Malformation syndrome],Lymphedema-posterior choanal atresia syndrome,,"A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.",[613611],,,,,,,, +GARD:16899,Active,Orphanet,ORPHA:99177,Disorder,[Morphological anomaly],Isolated distichiasis,,"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated.",[126300],,,,,,,, +GARD:169,Active,Orphanet,ORPHA:3144,Disorder,[Malformation syndrome],Schneckenbecken dysplasia,"[Chondrodysplasia with snail-like pelvis, SLC35D1-CDG]",Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.,[269250],,,,,Schneckenbecken dysplasia,TRUE,FALSE,Active +GARD:1690,Legacy,GARD,,,,,,,,,,,,Deafness hyperuricemia neurologic ataxia,TRUE,FALSE,Retired +GARD:16900,Active,Orphanet,ORPHA:99179,Disorder,[Malformation syndrome],Kandori fleck retina,,"Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.",[228990],,,,,,,, +GARD:16901,Active,Orphanet,ORPHA:99361,Disorder,[Disease],Familial medullary thyroid carcinoma,[Familial MTC],,[155240],,,,,,,, +GARD:16902,Active,Orphanet,ORPHA:99646,Disorder,[Disease],Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,,"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.",[614875],,,,,,,, +GARD:16903,Active,Orphanet,ORPHA:99672,Disorder,[Malformation syndrome],Fried's tooth and nail syndrome,,"A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement.",[602401],,,,,,,, +GARD:16904,Active,Orphanet,ORPHA:99734,Disorder,[Disease],Myotonia fluctuans,"[Exercise-induced delayed-onset myotonia, Fluctuating myotonia]","A form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.",[608390],,,,,,,, +GARD:16905,Active,Orphanet,ORPHA:99735,Disorder,[Disease],Myotonia permanens,,"A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).",[608390],,,,,,,, +GARD:16906,Active,Orphanet,ORPHA:99736,Disorder,[Disease],Acetazolamide-responsive myotonia,"[ACZ-responsive congenital myotonia, ACZ-responsive myotonia, Acetazolamide-responsive congenital myotonia, Myotonia-painful contractions syndrome, Painful congenital myotonia, Painful myotonia]",A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).,[608390],,,,,,,, +GARD:16907,Active,Orphanet,ORPHA:99772,Disorder,[Morphological anomaly],Cleft velum,"[Cleft soft palate, Cleft velum palatinum]",Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.,[119570],,,,,,,, +GARD:16908,Active,Orphanet,ORPHA:99798,Disorder,[Morphological anomaly],Oligodontia,[Selective tooth agenesis],Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.,"[106600, 610926, 604625, 150400, 313500, 616724, 617073]",,,,,,,, +GARD:16909,Active,Orphanet,ORPHA:99803,Disorder,[Malformation syndrome],Haddad syndrome,"[Congenital central alveolar hypoventilation-Hirschsprung disease syndrome, Ondine-Hirschsprung disease, Ondine-Hirschsprung syndrome]","Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).",[209880],,,,,,,, +GARD:1691,Active,Orphanet,ORPHA:90646,Disorder,[Malformation syndrome],Deafness-hypogonadism syndrome,[Hearing loss-hypogonadism syndrome],"This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3; see this term), hypogonadism and abnormal behavior.",[304350],,,,,Deafness hypogonadism syndrome,TRUE,FALSE,Active +GARD:16910,Active,Orphanet,ORPHA:99806,Disorder,[Malformation syndrome],Oculootodental syndrome,[OOD],"A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.",[166750],,,,,,,, +GARD:16911,Active,Orphanet,ORPHA:99807,Disorder,[Disease],PEHO-like syndrome,,"PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.","[260565, 617507]",,,,,,,, +GARD:16912,Active,Orphanet,ORPHA:99818,Subtype of disorder,[Clinical subtype],Turcot syndrome with polyposis,,"Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.",[175100],,,,,,,, +GARD:16913,Active,Orphanet,ORPHA:99819,Disorder,[Disease],Familial gestational hyperthyroidism,,"A rare genetic hyperthyroidism characterized by hyperemesis gravidarum associated with hyperthyroidism due to hypersensitivity of the thyrotropin receptor to chorionic gonadotropin, in the absence of abnormally high serum chorionic gonadotropin levels. Clinical manifestations include severe nausea, vomiting, weight loss, tachycardia, excessive sweating, and hand tremor, but no signs of ophthalmopathy.",[603373],,,,,,,, +GARD:16914,Active,Orphanet,ORPHA:99832,Disorder,[Disease],Resistance to thyrotropin-releasing hormone syndrome,"[Central hypothyroidism due to TRH receptor deficiency, TRH resistance syndrome]",Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.,[618573],,,,,,,, +GARD:16915,Active,Orphanet,ORPHA:99844,Subtype of disorder,[Clinical subtype],Leukocyte adhesion deficiency type III,"[LAD-1 variant, LAD-III, Leukocyte adhesion deficiency-1 variant]",Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.,[612840],,,,,,,, +GARD:16916,Active,Orphanet,ORPHA:99845,Disorder,[Disease],Genetic recurrent myoglobinuria,,Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.,"[550500, 268200]",,,,,,,, +GARD:16917,Active,Orphanet,ORPHA:99846,Disorder,[Disease],Autosomal dominant myoglobinuria,,"A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.",[160010],,,,,,,, +GARD:16918,Active,Orphanet,ORPHA:99853,Subtype of disorder,[Clinical subtype],Ovarioleukodystrophy,,,"[603896, 615889]",,,,,,,, +GARD:16919,Active,Orphanet,ORPHA:99854,Subtype of disorder,[Clinical subtype],Cree leukoencephalopathy,,,[603896],,,,,,,, +GARD:1692,Legacy,GARD,,,,,,,,,,,,Deafness hypospadias metacarpal and metatarsal syndrome,TRUE,FALSE,Active +GARD:16920,Active,Orphanet,ORPHA:99860,Disorder,[Disease],Precursor B-cell acute lymphoblastic leukemia,"[B-ALL, Precursor B-cell acute lymphoblastic leukemia/lymphoma, Precursor B-cell acute lymphocytic leukemia, Precursor B-cell acute lymphocytic leukemia/lymphoma]","A rare acute lymphoblastic leukemia characterized by infiltration of bone marrow and peripheral blood by small to medium-sized blast cells typically positive for the B-cell markers CD19, cCD79a, and cCD22. Predilection sites for extramedullary involvement are the central nervous system, lymph nodes, spleen, liver, and testes. Patients present with evidence of bone marrow failure (i. e. thrombocytopenia, anemia, and/or neutropenia) and variable leukocyte count, as well as lymphadenopathy, hepatomegaly, splenomegaly, bone pain, and arthralgias.",[615545],,,,,,,, +GARD:16921,Active,Orphanet,ORPHA:99865,Disorder,[Disease],Spermatocytic seminoma,,Spermatocytic seminoma (SS) is an extremely rare form of testicular cancer distinguished from testicular seminomatous germ cell tumors (see this term) by a very low rate of metastasis and lack of an ovarian equivalent.,[273300],,,,,,,, +GARD:16922,Active,Orphanet,ORPHA:99867,Disorder,[Disease],Thymoma,"[Primary thymic epithelial neoplasm, Primary thymic epithelial tumor]","Thymoma is a thymic epithelial neoplasm (TEN; see this term), a rare malignancy that arises from the epithelium of the thymic gland.",[274230],,,,,,,, +GARD:16923,Active,Orphanet,ORPHA:99879,Disorder,[Disease],Familial isolated hyperparathyroidism,[FIHPT],"A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations.","[617343, 618883, 145000, 600166, 610071]",,,,,,,, +GARD:16924,Active,Orphanet,ORPHA:99908,Disorder,[Disease],Pigeon-breeder lung disease,[Bird fancier lung],"Pigeon-breeder's lung disease, also called bird fancier’s lung, is a hypersensitivity pneumonitis (see this term) induced by inhalation of bird derived-proteins. Presentation can be acute with chills, cough, fever, shortness of breath, chest tightness usually resolving within 24 h after cessation of antigen exposure, sub-acute with cough and dyspnea over several days to weeks, whereas chronic form results in breathlessness, coughing, lack of appetite and weight loss.",[145300],,,,,,,, +GARD:16925,Active,Orphanet,ORPHA:99947,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2A2,[CMT2A2],"A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.",[609260],,,,,,,, +GARD:16926,Active,Orphanet,ORPHA:99966,Subtype of disorder,[Clinical subtype],Atypical teratoid rhabdoid tumor,[ATRT],"A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.",[609322],,,,,,,, +GARD:16927,Active,Orphanet,ORPHA:99976,Disorder,[Disease],Adenocarcinoma of the esophagus,[Esophageal adenocarcinoma],Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.,[614266],,,,,,,, +GARD:16928,Active,Orphanet,ORPHA:99995,Subtype of disorder,[Clinical subtype],Complex regional pain syndrome type 1,"[Algodystrophy, Reflex sympathetic dystrophy]","Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome (see this term) in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.",[604335],,,,,,,, +GARD:16929,Active,Orphanet,ORPHA:100006,Subtype of disorder,[Clinical subtype],"ABeta amyloidosis, Dutch type","[ABetaE22Q amyloidosis, HCHWA, Dutch type, HCHWA-D, Hereditary cerebral hemorrhage with amyloidosis, Dutch type]","Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.",[605714],,,,,,,, +GARD:1693,Legacy,GARD,,,,,,,,,,,,Deafness mesenteric diverticula of small bowel neuropathy,TRUE,FALSE,Active +GARD:16930,Active,Orphanet,ORPHA:100008,Subtype of disorder,[Clinical subtype],ACys amyloidosis,"[CST3-related amyloidosis, Cystatin amyloidosis, HCHWA, Icelandic type, Hereditary cerebral hemorrhage with amyloidosis, Icelandic type, Hereditary cystatin C amyloid angiopathy]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the CST3 gene (20p11.2), encoding the precursor protein cystatin C.",[105150],,,,,,,, +GARD:16931,Active,Orphanet,ORPHA:100032,Subtype of disorder,[Clinical subtype],Hypocalcified amelogenesis imperfecta,[Amelogenesis imperfecta type 3],,"[616221, 617607, 130900]",,,,,,,, +GARD:16932,Active,Orphanet,ORPHA:100034,Subtype of disorder,[Clinical subtype],Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,[Amelogenesis imperfecta type 4],,[104510],,,,,,,, +GARD:16933,Active,Orphanet,ORPHA:100050,Subtype of disorder,[Etiological subtype],Hereditary angioedema type 1,"[HAE 1, HAE-I, Hereditary angioneurotic edema type 1]","A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",[106100],,,,,,,, +GARD:16934,Active,Orphanet,ORPHA:100051,Subtype of disorder,[Etiological subtype],Hereditary angioedema type 2,"[HAE 2, HAE-II, Hereditary angioneurotic edema type 2]","Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",[106100],,,,,,,, +GARD:16935,Active,Orphanet,ORPHA:100054,Subtype of disorder,[Clinical subtype],F12-related hereditary angioedema with normal C1Inh,"[F12-related HAE with normal C1 inhibitor, HAE 3, HAE-III, Hereditary angioedema type 3, Hereditary angioneurotic edema type 3, Inherited estrogen-associated angioedema, Inherited estrogen-associated angioneurotic edema, Inherited estrogen-dependent angioedema, Inherited estrogen-dependent angioneurotic edema]","Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",[610618],,,,,,,, +GARD:16936,Active,Orphanet,ORPHA:100057,Disorder,[Disease],Renin-angiotensin-aldosterone system-blocker-induced angioedema,"[ACE inhibitor-related acquired angioedema, ACEI-related acquired angioedema, Acquired angioedema with normal C1 inhibitor, Acquired angioedema with normal C1INH, RAAS-blocker-induced angioedema, RAAS-blocker-induced angioneurotic edema, RAE, Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema]","Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",[300909],,,,,,,, +GARD:16937,Active,Orphanet,ORPHA:100924,Disorder,[Disease],Porphyria due to ALA dehydratase deficiency,"[ALAD porphyria, Porphyria due to ALAD deficiency, Porphyria due to delta-aminolevulinate dehydratase deficiency, Porphyria of Doss]",Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.,[612740],,,,,,,, +GARD:16938,Active,Orphanet,ORPHA:100976,Disorder,[Disease],Bathing suit ichthyosis,[BSI],Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.,[242300],,,,,,,, +GARD:16939,Active,Orphanet,ORPHA:101001,Disorder,[Disease],Autosomal recessive spastic paraplegia type 21,"[Mast syndrome, SPG21]","Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.",[248900],,,,,,,, +GARD:1694,Legacy,GARD,,,,,,,,,,,,"Deafness mixed with perilymphatic Gusher, X-linked",TRUE,FALSE,Active +GARD:16940,Active,Orphanet,ORPHA:101007,Disorder,[Disease],Autosomal recessive spastic paraplegia type 27,[SPG27],"Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.",[609041],,,,,,,, +GARD:16941,Active,Orphanet,ORPHA:101008,Disorder,[Disease],Autosomal recessive spastic paraplegia type 28,[SPG28],"Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.",[609340],,,,,,,, +GARD:16942,Active,Orphanet,ORPHA:101010,Disorder,[Disease],Autosomal spastic paraplegia type 30,[SPG30],"A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.",[610357],,,,,,,, +GARD:16943,Active,Orphanet,ORPHA:101068,Disorder,[Disease],Congenital stromal corneal dystrophy,"[CSCD, Congenital hereditary stromal dystrophy, Witschel dystrophy]","Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.",[610048],,,,,,,, +GARD:16944,Active,Orphanet,ORPHA:101351,Disorder,[Morphological anomaly],Familial isolated congenital asplenia,,"Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.",[271400],,,,,,,, +GARD:16945,Active,Orphanet,ORPHA:103908,Disorder,[Disease],Congenital sodium diarrhea,"[Na-H exchange deficiency, Non-syndromic congenital sodium diarrhea]","A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.","[270420, 616868]",,,,,,,, +GARD:16946,Active,Orphanet,ORPHA:103918,Disorder,[Disease],Tropical pancreatitis,"[TCP, Tropical calcific chronic pancreatitis]","A rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.",[608189],,,,,,,, +GARD:16947,Active,Orphanet,ORPHA:137631,Disorder,[Disease],"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.",[611926],,,,,,,, +GARD:16948,Active,Orphanet,ORPHA:137639,Subtype of disorder,[Clinical subtype],Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,[Ataxia-delayed dentition-hypomyelination syndrome],,[607694],,,,,,,, +GARD:16949,Active,Orphanet,ORPHA:137681,Disorder,[Disease],Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,[Hepatoencephalopathy due to COXPD1],"A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.",[609060],,,,,,,, +GARD:1695,Active,Orphanet,ORPHA:2408,Disorder,[Malformation syndrome],Lowe-Kohn-Cohen syndrome,"[Deafness-nephritis-ano-rectal malformation syndrome, Hearing loss-nephritis-ano-rectal malformation syndrome]","Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.",,,,,,Deafness nephritis anorectal malformation,TRUE,FALSE,Active +GARD:16950,Active,Orphanet,ORPHA:137908,Disorder,[Disease],Hypotonia with lactic acidemia and hyperammonemia,"[COXPD5, Combined oxidative phosphorylation defect type 5]","This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.",[611719],,,,,,,, +GARD:16951,Active,Orphanet,ORPHA:137914,Disorder,[Morphological anomaly],Choanal atresia,,"Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.",[608911],,,,,,,, +GARD:16952,Active,Orphanet,ORPHA:139474,Disorder,[Malformation syndrome],17q11.2 microduplication syndrome,"[Dup(17)(q11.2), Grisart-Destrée syndrome, Trisomy 17q11.2]",17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.,[618874],,,,,,,, +GARD:16953,Active,Orphanet,ORPHA:139518,Disorder,[Disease],Distal hereditary motor neuropathy type 1,"[Autosomal dominant distal juvenile spinal muscular atrophy type 1, dHMN1]","Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.",[182960],,,,,,,, +GARD:16954,Active,Orphanet,ORPHA:139525,Disorder,[Disease],Distal hereditary motor neuropathy type 2,"[Distal spinal muscular atrophy type 2, dHMN2, dSMA2]","A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.","[615575, 158590, 613376, 608634]",,,,,,,, +GARD:16955,Active,Orphanet,ORPHA:139536,Disorder,[Disease],Distal hereditary motor neuropathy type 5,"[Distal HMN V, Distal hereditary motor neuropathy type V, Distal spinal muscular atrophy type 5, dHMN5]","A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.","[614751, 600794, 619112]",,,,,,,, +GARD:16956,Active,Orphanet,ORPHA:139547,Disorder,[Disease],Distal spinal muscular atrophy type 3,"[Autosomal recessive distal spinal muscular atrophy type 3, Distal hereditary motor neuropathy type 3 and type 4, dHMN3 and dHMN4, dSMA3]","Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.",[607088],,,,,,,, +GARD:16957,Active,Orphanet,ORPHA:139557,Disorder,[Disease],X-linked distal spinal muscular atrophy type 3,"[ATP7A-related distal motor neuropathy, DSMAX, SMAX3, X-linked dHMN3, X-linked dSMA3, X-linked distal hereditary motor neuropathy type 3]","X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.",[300489],,,,,,,, +GARD:16958,Active,Orphanet,ORPHA:139564,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 1B,"[HSAN with cough and gastroesophageal reflux, HSAN1B, Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux, Hereditary sensory and autonomic neuropathy type IB]","Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).",[608088],,,,,,,, +GARD:16959,Active,Orphanet,ORPHA:139578,Disorder,[Disease],Mutilating hereditary sensory neuropathy with spastic paraplegia,[Mutilating HSAN with spastic paraplegia],This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.,[256840],,,,,,,, +GARD:1696,Active,Orphanet,ORPHA:231679,Subtype of disorder,[Clinical subtype],Isolated growth hormone deficiency type II,"[Congenital IGHD type II, Congenital isolated GH deficiency type II, Congenital isolated growth hormone deficiency type II]",,[173100],,,,,Isolated growth hormone deficiency type 2,TRUE,FALSE,Active +GARD:16960,Active,Orphanet,ORPHA:139589,Disorder,[Disease],Distal hereditary motor neuropathy type 7,"[Distal spinal muscular atrophy with vocal cord paralysis, dHMN7]","A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.","[158580, 607641]",,,,,,,, +GARD:16961,Active,Orphanet,ORPHA:140436,Disorder,[Disease],Primary intraosseous venous malformation,"[Intraosseous hemangioma, Osseous venous malformation]","Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.",[606893],,,,,,,, +GARD:16962,Active,Orphanet,ORPHA:140481,Disorder,[Disease],Autosomal dominant slowed nerve conduction velocity,,"A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.",[608236],,,,,,,, +GARD:16963,Active,Orphanet,ORPHA:140908,Subtype of disorder,[Clinical subtype],Brachydactyly type B2,,"A clinical subtype of brachydactyly type B characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.",[611377],,,,,,,, +GARD:16964,Active,Orphanet,ORPHA:140941,Disorder,[Disease],Short stature due to primary acid-labile subunit deficiency,,"Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.",[615961],,,,,,,, +GARD:16965,Active,Orphanet,ORPHA:140957,Disorder,[Disease],Autosomal dominant macrothrombocytopenia,,This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.,"[615193, 619271, 613112, 187800]",,,,,,,, +GARD:16966,Active,Orphanet,ORPHA:140963,Disorder,[Malformation syndrome],Bilateral microtia-deafness-cleft palate syndrome,[Bilateral microtia-hearing loss-cleft palate syndrome],"A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.",[612290],,,,,,,, +GARD:16967,Active,Orphanet,ORPHA:140966,Disorder,[Disease],"Palmoplantar keratoderma, Nagashima type","[PPK, Nagashima type, Palmoplantar hyperkeratosis, Nagashima type]","A rare autosomal recessive, isolated diffuse palmoplantar keratoderma charactized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.",[615598],,,,,,,, +GARD:16968,Active,Orphanet,ORPHA:141022,Disorder,[Morphological anomaly],Second branchial cleft anomaly,"[Second branchial cleft cyst, Second branchial cleft fistula]","A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occuring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia.",[113600],,,,,,,, +GARD:16969,Active,Orphanet,ORPHA:141074,Disorder,[Morphological anomaly],External auditory canal aplasia/hypoplasia,[External auditory canal stenosis/atresia],"A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma.","[108760, 607842]",,,,,,,, +GARD:1697,Active,Orphanet+OMIM,OMIM:220290,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 1a",,,[220290],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,DFNB1,TRUE,FALSE,Active +GARD:16970,Active,Orphanet,ORPHA:141103,Disorder,[Morphological anomaly],Nasal dermoid cyst,[Nasal dermoid sinus cyst],"A rare otorhinolaryngological malformation characterized by a dermoid cyst along the nasal dorsum or glabella, lined by keratinized squamous epithelium and containing intraluminal keratin and mature adnexal structures, such as hair follicles, sebaceous and sweat glands. The majority of nasal dermoid cysts are superficial, rarely they extend intracranially. The cysts are typically benign but are susceptible to recurrent infections that may progress to osteomyelitis, meningitis or an intracranial abscess.",[600679],,,,,,,, +GARD:16971,Active,Orphanet,ORPHA:141145,Disorder,[Malformation syndrome],Hemifacial hyperplasia,[Hemifacial hypertrophy],"Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.",[133900],,,,,,,, +GARD:16972,Active,Orphanet,ORPHA:141152,Disorder,[Morphological anomaly],Isolated congenital hypoglossia/aglossia,,"A rare head and neck malformation characterized by congenital partial (hypoglossia) or total (aglossia) absence of the tongue. Patients present feeding and respiratory difficulties, as well as delayed speech development and slurred speech. Taste perception is not severely compromised. Associated features include a characteristic facies due to mandibular transverse arch deficiency, oligodontia, and malocclusion, among others.",[612776],,,,,,,, +GARD:16973,Active,Orphanet,ORPHA:141242,Disorder,[Morphological anomaly],Paramedian nasal cleft,"[Alar cleft, Alar rim cleft, Cleft nose, Isolated cleft of the ala nasi, Isolated coloboma of the nose, Tessier number 1 cleft]","Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.",[614687],,,,,,,, +GARD:16974,Active,Orphanet,ORPHA:141258,Disorder,[Morphological anomaly],Tessier number 4 facial cleft,,"A rare oblique facial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus.",[600251],,,,,,,, +GARD:16975,Active,Orphanet,ORPHA:141276,Disorder,[Morphological anomaly],Tessier number 7 facial cleft,"[Commissural facial cleft, Transverse facial cleft]","A rare lateral facial cleft characterized by a temporo-zygomatic defect, usually with absence of the zygomatic arch and deformities of the mandibular ramus, condyle, and coronoid process. Associated soft tissue abnormalities include malformations of the ear and hypoplasia or absence of the temporal muscle. Preauricular hair may be absent or divided into two portions. Facial manifestations include macrostomia (with extension of the cleft to the corner of the mouth) and pre-auricular tags. Incomplete clefts may be found in the molar region and between the maxillary tuberosity and pterygoid process.",[613545],,,,,,,, +GARD:16976,Active,Orphanet,ORPHA:141291,Disorder,[Morphological anomaly],Cleft lip and alveolus,,"Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.","[608874, 225060, 602966, 608371, 600757, 612858, 119530, 610361, 129400]",,,,,,,, +GARD:16977,Active,Orphanet,ORPHA:157215,Disorder,[Disease],Hereditary hypophosphatemic rickets with hypercalciuria,[HHRH],"A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.",[241530],,,,,,,, +GARD:16978,Active,Orphanet,ORPHA:157713,Subtype of disorder,[Clinical subtype],Congenital or early infantile CACH syndrome,,,[603896],,,,,,,, +GARD:16979,Active,Orphanet,ORPHA:157716,Subtype of disorder,[Clinical subtype],Late infantile CACH syndrome,,,[603896],,,,,,,, +GARD:1698,Active,Orphanet,ORPHA:3230,Disorder,[Malformation syndrome],Deafness-oligodontia syndrome,[Hearing loss-oligodontia syndrome],Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.,[221740],,,,,Deafness oligodontia syndrome,TRUE,FALSE,Active +GARD:16980,Active,Orphanet,ORPHA:157719,Subtype of disorder,[Clinical subtype],Juvenile or adult CACH syndrome,,,[603896],,,,,,,, +GARD:16981,Active,Orphanet,ORPHA:157794,Disorder,[Disease],Hereditary mixed polyposis syndrome,[HMPS],"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.","[601228, 610069]",,,,,,,, +GARD:16982,Active,Orphanet,ORPHA:157798,Disorder,[Disease],Serrated polyposis syndrome,[Hyperplastic polyposis syndrome],"A rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.",[617108],,,,,,,, +GARD:16983,Active,Orphanet,ORPHA:157820,Disorder,[Disease],Cold-induced sweating syndrome,[CISS],"Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.","[272430, 610313, 617055]",,,,,,,, +GARD:16984,Active,Orphanet,ORPHA:157832,Disorder,[Malformation syndrome],Craniorhiny,,"A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.",[123050],,,,,,,, +GARD:16985,Active,Orphanet,ORPHA:157941,Disorder,[Disease],Huntington disease-like 1,"[Early-onset prion disease with prominent psychiatric features, HDL1]","A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities.",[603218],,,,,,,, +GARD:16986,Active,Orphanet,ORPHA:157946,Disorder,[Disease],Huntington disease-like 3,[HDL3],"Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.",[604802],,,,,,,, +GARD:16987,Active,Orphanet,ORPHA:157954,Disorder,[Disease],ANE syndrome,[Alopecia-progressive neurological defect-endocrinopathy syndrome],"A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.",[612079],,,,,,,, +GARD:16988,Active,Orphanet,ORPHA:157962,Disorder,[Malformation syndrome],"Oculoauricular syndrome, Schorderet type",,"Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).",[612109],,,,,,,, +GARD:16989,Active,Orphanet,ORPHA:158025,Disorder,[Disease],Hereditary progressive mucinous histiocytosis,,"Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.",[142630],,,,,,,, +GARD:1699,Legacy,GARD,,,,,,,,,,,,Deafness onychodystrophy dominant form,TRUE,FALSE,Retired +GARD:16990,Active,Orphanet,ORPHA:158681,Disorder,[Disease],Epidermolysis bullosa simplex with circinate migratory erythema,"[EBS with circinate migratory erythema, EBS-migr]","A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth.",[609352],,,,,,,, +GARD:16991,Active,Orphanet,ORPHA:158684,Disorder,[Disease],Epidermolysis bullosa simplex with pyloric atresia,"[EBS with pyloric atresia, EBS-PA]","A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.",[612138],,,,,,,, +GARD:16992,Active,Orphanet,ORPHA:163596,Subtype of disorder,[Clinical subtype],Hb Bart's hydrops fetalis,"[Alpha-thalassemia hydrops fetalis, Alpha-thalassemia major, Hemoglobin Bart's hydrops fetalis, Homozygous alpha0-thalassemia]","A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.",[236750],,,,,,,, +GARD:16993,Active,Orphanet,ORPHA:163649,Disorder,[Disease],Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome,,"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.","[602611, 618618]",,,,,,,, +GARD:16994,Active,Orphanet,ORPHA:163662,Disorder,[Disease],"Spondyloepiphyseal dysplasia, Reardon type",,"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.",[600561],,,,,,,, +GARD:16995,Active,Orphanet,ORPHA:163665,Disorder,[Disease],"Spondyloepiphyseal dysplasia tarda, Kohn type",,"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.",[271620],,,,,,,, +GARD:16996,Active,Orphanet,ORPHA:163668,Disorder,[Malformation syndrome],"Spondyloepiphyseal dysplasia, MacDermot type","[Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome, Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome]","Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.",[184000],,,,,,,, +GARD:16997,Active,Orphanet,ORPHA:163681,Disorder,[Disease],CNTNAP2-related developmental and epileptic encephalopathy,"[CDFE syndrome, CDFES, CNTNAP2-related DEE, Cortical dysplasia-focal epilepsy syndrome]","A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.",[610042],,,,,,,, +GARD:16998,Active,Orphanet,ORPHA:163690,Disorder,[Disease],Hypotonia-cystinuria syndrome,[HCS],"A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.",[606407],,,,,,,, +GARD:16999,Active,Orphanet,ORPHA:163693,Disorder,[Disease],2p21 microdeletion syndrome,"[2p21 deletion syndrome, Del(2)(p21), Monosomy 2p21]","The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.",[606407],,,,,,,, +GARD:17,Active,Orphanet,ORPHA:2356,Disorder,[Morphological anomaly],Arachnoid cyst,,"A disorder with extraparenchymal cysts, intra-arachnoidal collections of fluid, the composition of which is close to that of cerebrospinal fluid. They are often asymptomatic.","[182990, 207790]",,,,,Arachnoid cysts,TRUE,FALSE,Active +GARD:170,Legacy,GARD,,,,,,,,,,,,Macrocephaly mesodermal hamartoma spectrum,TRUE,FALSE,Retired +GARD:17000,Active,Orphanet,ORPHA:163696,Disorder,[Disease],Action myoclonus-renal failure syndrome,"[AMRF, EPM4, Myoclonus-nephropathy syndrome, Progressive myoclonic epilepsy type 4, Progressive myoclonus epilepsy type 4]","A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.",[254900],,,,,,,, +GARD:17001,Active,Orphanet,ORPHA:163717,Disorder,[Disease],Benign familial mesial temporal lobe epilepsy,[Benign FMTLE],"Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.","[614417, 611630, 615697]",,,,,,,, +GARD:17002,Active,Orphanet,ORPHA:163721,Disorder,[Disease],Rolandic epilepsy-speech dyspraxia syndrome,,"Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.","[300643, 245570]",,,,,,,, +GARD:17003,Active,Orphanet,ORPHA:163727,Disorder,[Disease],Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,[Rolandic epilepsy exercise-induced dystonia],"A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands.",[608105],,,,,,,, +GARD:17004,Active,Orphanet,ORPHA:163746,Disorder,[Disease],Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,"[Neurologic Waardenburg-Shah syndrome, PCWH, WS4 plus]",Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.,[609136],,,,,,,, +GARD:17005,Active,Orphanet,ORPHA:163956,Disorder,[Disease],"X-linked intellectual disability, Nascimento type",[X-linked intellectual disability-nail dystrophy-seizures syndrome],"X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.",[300860],,,,,,,, +GARD:17006,Active,Orphanet,ORPHA:163961,Disorder,[Disease],X-linked cerebral-cerebellar-coloboma syndrome,"[X-linked intellectual disability, Kroes type]","X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.",[300864],,,,,,,, +GARD:17007,Active,Orphanet,ORPHA:163966,Disorder,[Disease],"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",[X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome],"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.",[300863],,,,,,,, +GARD:17008,Active,Orphanet,ORPHA:163976,Disorder,[Malformation syndrome],"X-linked intellectual disability, Van Esch type",,"A rare, genetic, syndromic intellectual disability characterized by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorfism include upslanted palpebral fissures and prominent nasal bridge.",[301030],,,,,,,, +GARD:17009,Active,Orphanet,ORPHA:163979,Disorder,[Disease],X-linked intellectual disability-craniofacioskeletal syndrome,,"X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.",[300712],,,,,,,, +GARD:1701,Legacy,GARD,,,,,,,,,,,,Deafness peripheral neuropathy arterial disease,TRUE,FALSE,Active +GARD:17010,Active,Orphanet,ORPHA:163985,Disorder,[Disease],Hyperekplexia-epilepsy syndrome,,"A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.",[300607],,,,,,,, +GARD:17011,Active,Orphanet,ORPHA:165805,Disorder,[Disease],Familial mesial temporal lobe epilepsy with febrile seizures,,"A rare, genetic, familial partial epilepsy disease characterized by simple partial seizures, complex partial seizures and/or secondarily generalized seizures, originating from the inner aspect of the temporal lobe, associated with an antecedant history of febrile seizures, ocurring in various members of a family. Hippocampal abnormalities (e.g. hippocampal sclerosis) may also be associated.",[614418],,,,,,,, +GARD:17012,Active,Orphanet,ORPHA:166011,Disorder,[Disease],"Multiple epiphyseal dysplasia, Beighton type","[Multiple epiphyseal dysplasia-myopia-deafness syndrome, Multiple epiphyseal dysplasia-myopia-hearing loss syndrome]","A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia, visual impairment (with early-onset progressive myopia, retinal thinning, and cataracts), and conductive hearing loss. Patients are of short stature and present brachydactyly, genu valgus deformity, and joint pain.",[132450],,,,,,,, +GARD:17013,Active,Orphanet,ORPHA:166016,Disorder,[Disease],"Multiple epiphyseal dysplasia, Lowry type",[Multiple epiphyseal dysplasia with Robin phenotype],"Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.",[601560],,,,,,,, +GARD:17014,Active,Orphanet,ORPHA:166024,Disorder,[Disease],"Multiple epiphyseal dysplasia, Al-Gazali type",[Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome],"A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum.",[607131],,,,,,,, +GARD:17015,Active,Orphanet,ORPHA:166029,Disorder,[Disease],"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia",,"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.",[609324],,,,,,,, +GARD:17016,Active,Orphanet,ORPHA:166032,Disorder,[Disease],"Multiple epiphyseal dysplasia, with miniepiphyses",,"Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.",[609325],,,,,,,, +GARD:17017,Active,Orphanet,ORPHA:166035,Disorder,[Malformation syndrome],Brachydactyly-short stature-retinitis pigmentosa syndrome,,"Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.",[250410],,,,,,,, +GARD:17018,Active,Orphanet,ORPHA:166038,Disorder,[Disease],"Metaphyseal chondrodysplasia, Kaitila type",,"Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.",[250230],,,,,,,, +GARD:17019,Active,Orphanet,ORPHA:166078,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 1,,"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF).",[193400],,,,,,,, +GARD:1702,Legacy,GARD,,,,,,,,,,,,Deafness progressive cataract autosomal dominant,TRUE,FALSE,Active +GARD:17020,Active,Orphanet,ORPHA:166081,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2,,"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N.",[613554],,,,,,,, +GARD:17021,Active,Orphanet,ORPHA:166084,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2A,,"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).",[613554],,,,,,,, +GARD:17022,Active,Orphanet,ORPHA:166087,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2B,,"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with increased affinity of the Willebrand factor (VWF) for platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and VWF from the plasma. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).",[613554],,,,,,,, +GARD:17023,Active,Orphanet,ORPHA:166090,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2M,,"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).",[613554],,,,,,,, +GARD:17024,Active,Orphanet,ORPHA:166093,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2N,,"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, etc.).",[613554],,,,,,,, +GARD:17025,Active,Orphanet,ORPHA:166096,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 3,,"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD.",[277480],,,,,,,, +GARD:17026,Active,Orphanet,ORPHA:166105,Disorder,[Disease],FASTKD2-related infantile mitochondrial encephalomyopathy,,"FASTKD2-related infantile mitochondrial encephalomyopathy is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.",[618855],,,,,,,, +GARD:17027,Active,Orphanet,ORPHA:166119,Disorder,[Disease],Isolated osteopoikilosis,,"A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.",[166700],,,,,,,, +GARD:17028,Active,Orphanet,ORPHA:166412,Disorder,[Disease],Hot water reflex epilepsy,,"Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.","[613339, 613340]",,,,,,,, +GARD:17029,Active,Orphanet,ORPHA:166433,Disorder,[Disease],Reading seizures,,A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures.,[132300],,,,,,,, +GARD:17030,Active,Orphanet,ORPHA:168451,Disorder,[Disease],Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome,,Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.,[601668],,,,,,,, +GARD:17031,Active,Orphanet,ORPHA:168486,Disorder,[Disease],Congenital neuronal ceroid lipofuscinosis,[Congenital NCL],"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.",[610127],,,,,,,, +GARD:17032,Active,Orphanet,ORPHA:168491,Disorder,[Disease],Late infantile neuronal ceroid lipofuscinosis,"[Jansky-Bielschowsky disease, LINCL, Late infantile NCL]","Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.","[610127, 610951, 600143, 601780, 256730, 204500, 256731]",,,,,,,, +GARD:17033,Active,Orphanet,ORPHA:168558,Disorder,[Disease],"46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency",[XY sex reversal-adrenal failure],"46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.",[613743],,,,,,,, +GARD:17034,Active,Orphanet,ORPHA:168563,Disorder,[Malformation syndrome],"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.",[607080],,,,,,,, +GARD:17035,Active,Orphanet,ORPHA:168566,Disorder,[Disease],Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,[Fatal mitochondrial disease due to COXPD3],"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.",[610505],,,,,,,, +GARD:17036,Active,Orphanet,ORPHA:168577,Disorder,[Disease],Hereditary cryohydrocytosis with reduced stomatin,"[CHC type 2, Hereditary cryohydrocytosis type 2, Stomatin-deficient cryohydrocytosis, sdCHC]","Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.",[608885],,,,,,,, +GARD:17037,Active,Orphanet,ORPHA:168583,Subtype of disorder,[Clinical subtype],Hereditary North American Indian childhood cirrhosis,,"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.",[604901],,,,,,,, +GARD:17038,Active,Orphanet,ORPHA:168601,Disorder,[Disease],Congenital enteropathy due to enteropeptidase deficiency,[Congenital enterokinase deficiency],"Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.",[226200],,,,,,,, +GARD:17039,Active,Orphanet,ORPHA:168606,Disorder,[Disease],Seborrhea-like dermatitis with psoriasiform elements,,"Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.",[610227],,,,,,,, +GARD:17040,Active,Orphanet,ORPHA:168612,Disorder,[Biological anomaly],Congenital deficiency in alpha-fetoprotein,,Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.,[615969],,,,,,,, +GARD:17041,Active,Orphanet,ORPHA:168629,Subtype of disorder,[Etiological subtype],Autosomal thrombocytopenia with normal platelets,,,"[273900, 612004, 188000]",,,,,,,, +GARD:17042,Active,Orphanet,ORPHA:168632,Disorder,[Disease],Generalized basaloid follicular hamartoma syndrome,,"Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.",[605827],,,,,,,, +GARD:17043,Active,Orphanet,ORPHA:168953,Disorder,[Disease],Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement,"[8p11 myeloproliferative syndrome, Stem cell leukemia/lymphoma]","A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.",[613523],,,,,,,, +GARD:17044,Active,Orphanet,ORPHA:168984,Disorder,[Malformation syndrome],CLAPO syndrome,,"A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.",[613089],,,,,,,, +GARD:17045,Active,Orphanet,ORPHA:169079,Disorder,[Disease],Cernunnos-XLF deficiency,"[Cernunnos XLFD, Cernunnos deficiency, Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome, NHEJ1 deficiency]","Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.",[611291],,,,,,,, +GARD:17046,Active,Orphanet,ORPHA:169082,Disorder,[Disease],Combined immunodeficiency due to CD3gamma deficiency,,"A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.",[615607],,,,,,,, +GARD:17047,Active,Orphanet,ORPHA:169085,Disorder,[Disease],Susceptibility to respiratory infections associated with CD8alpha chain mutation,[Familial CD8 deficiency],A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.,[608957],,,,,,,, +GARD:17048,Active,Orphanet,ORPHA:169090,Disorder,[Disease],Combined immunodeficiency due to CRAC channel dysfunction,[Immune dysfunction due to T-cell inactivation due to calcium entry defect],"Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.","[612783, 612782]",,,,,,,, +GARD:17049,Active,Orphanet,ORPHA:169100,Disorder,[Disease],Immunodeficiency due to CD25 deficiency,[Interleukin-2 receptor alpha chain deficiency],"Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.",[606367],,,,,,,, +GARD:1705,Active,Orphanet,ORPHA:3239,Disorder,[Malformation syndrome],Deafness-vitiligo-achalasia syndrome,[Hearing loss-vitiligo-achalasia syndrome],"Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.",[221350],,,,,Congenital deafness with vitiligo and achalasia,TRUE,FALSE,Active +GARD:17050,Active,Orphanet,ORPHA:169150,Disorder,[Disease],Immunodeficiency due to a late component of complement deficiency,"[Immunodeficiency due to C5 to C9 component complement deficiency, Terminal complement pathway deficiency]","Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.","[612446, 613789, 609536, 610102, 613790, 613825]",,,,,,,, +GARD:17051,Active,Orphanet,ORPHA:169154,Disorder,[Disease],T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,[T-B+ SCID due to IL-7Ralpha deficiency],"A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.",[608971],,,,,,,, +GARD:17052,Active,Orphanet,ORPHA:169157,Disorder,[Disease],T-B+ severe combined immunodeficiency due to CD45 deficiency,[T-B+ SCID due to CD45 deficiency],"A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.",[608971],,,,,,,, +GARD:17053,Active,Orphanet,ORPHA:169160,Disorder,[Disease],T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,[T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta],"A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients.","[610163, 615615, 608971, 615617]",,,,,,,, +GARD:17054,Active,Orphanet,ORPHA:169464,Disorder,[Disease],Primary CD59 deficiency,,"Primary CD59 deficiency is a rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).",[612300],,,,,,,, +GARD:17055,Active,Orphanet,ORPHA:169467,Disorder,[Disease],Recurrent Neisseria infections due to factor D deficiency,,"Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.",[613912],,,,,,,, +GARD:17056,Active,Orphanet,ORPHA:169793,Subtype of disorder,[Clinical subtype],Severe hemophilia B,"[Severe congenital F9 deficiency, Severe congenital factor IX deficiency]","A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.",[306900],,,,,,,, +GARD:17057,Active,Orphanet,ORPHA:169796,Subtype of disorder,[Clinical subtype],Moderate hemophilia B,"[Moderate congenital F9 deficiency, Moderate congenital factor IX deficiency]","A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.",[306900],,,,,,,, +GARD:17058,Active,Orphanet,ORPHA:169799,Subtype of disorder,[Clinical subtype],Mild hemophilia B,"[Mild congenital F9 deficiency, Mild congenital factor IX deficiency]","A mild form of hemophilia B characterized by a small deficiency of factor IX (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages do not occur. The condition may affect males and female carriers of disease-causing mutations.",[306900],,,,,,,, +GARD:17059,Active,Orphanet,ORPHA:169802,Subtype of disorder,[Clinical subtype],Severe hemophilia A,"[Severe congenital F8 deficiency, Severe congenital factor VIII deficiency]","A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.",[306700],,,,,,,, +GARD:17060,Active,Orphanet,ORPHA:169805,Subtype of disorder,[Clinical subtype],Moderate hemophilia A,"[Moderate congenital F8 deficiency, Moderate congenital factor VIII deficiency]","A moderately severe form of hemophilia A characterized by factor VIII deficiency (biological activity between 1 and 5 IU/dL) leading to abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.",[306700],,,,,,,, +GARD:17061,Active,Orphanet,ORPHA:169808,Subtype of disorder,[Clinical subtype],Mild hemophilia A,"[Mild congenital F8 deficiency, Mild congenital factor VIII deficiency]","A mild form of hemophilia A characterized by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous hemorrhages do not occur. Patients may be also labeled as having mild hemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with hemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations.",[306700],,,,,,,, +GARD:17062,Active,Orphanet,ORPHA:171445,Disorder,[Disease],Muscle filaminopathy,,"Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.",[609524],,,,,,,, +GARD:17063,Active,Orphanet,ORPHA:171607,Disorder,[Disease],X-linked spastic paraplegia type 34,[SPG34],"X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.",[300750],,,,,,,, +GARD:17064,Active,Orphanet,ORPHA:171612,Disorder,[Disease],Autosomal dominant spastic paraplegia type 37,[SPG37],"A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.",[611945],,,,,,,, +GARD:17065,Active,Orphanet,ORPHA:171617,Disorder,[Disease],Autosomal dominant spastic paraplegia type 38,[SPG38],"A complex hereditary spastic paraplegia characterized by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, pes cavus, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported.",[612335],,,,,,,, +GARD:17066,Active,Orphanet,ORPHA:171680,Disorder,[Malformation syndrome],Lissencephaly due to TUBA1A mutation,,"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.",[611603],,,,,,,, +GARD:17067,Active,Orphanet,ORPHA:171690,Disorder,[Disease],Metabolic myopathy due to lactate transporter defect,[Erythrocyte lactate transporter defect],"Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.",[245340],,,,,,,, +GARD:17068,Active,Orphanet,ORPHA:171706,Disorder,[Disease],Short stature-delayed bone age due to thyroid hormone metabolism deficiency,,"Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.",[609698],,,,,,,, +GARD:17069,Active,Orphanet,ORPHA:171719,Disorder,[Malformation syndrome],Cutis laxa-Marfanoid syndrome,,"A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.",[614100],,,,,,,, +GARD:1707,Legacy,GARD,,,,,,,,,,,,"Deafness X-linked, DFN3",TRUE,FALSE,Active +GARD:17070,Active,Orphanet,ORPHA:171844,Disorder,[Malformation syndrome],Blindness-scoliosis-arachnodactyly syndrome,,This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.,[612445],,,,,,,, +GARD:17071,Active,Orphanet,ORPHA:171848,Disorder,[Disease],Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,"[PHARC syndrome, Peripheral neuropathy, Fiskerstrand type, Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome]","Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.",[612674],,,,,,,, +GARD:17072,Active,Orphanet,ORPHA:171851,Disorder,[Disease],MEDNIK syndrome,"[Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome, Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome]","A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.",[609313],,,,,,,, +GARD:17073,Active,Orphanet,ORPHA:171863,Disorder,[Disease],Autosomal dominant spastic paraplegia type 42,[SPG42],"A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.",[612539],,,,,,,, +GARD:17074,Active,Orphanet,ORPHA:177907,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to translocation,,,[176270],,,,,,,, +GARD:17075,Active,Orphanet,ORPHA:177910,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to imprinting mutation,,,[176270],,,,,,,, +GARD:17076,Active,Orphanet,ORPHA:177926,Subtype of disorder,[Clinical subtype],Bleeding disorder in hemophilia A carriers,,"A rare bleeding disorder in association with carrier mutations in the F8 gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.",[306700],,,,,,,, +GARD:17077,Active,Orphanet,ORPHA:177929,Subtype of disorder,[Clinical subtype],Bleeding disorder in hemophilia B carriers,,"A rare bleeding disorder in association with carrier mutations in the F9 gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.",[306900],,,,,,,, +GARD:17078,Active,Orphanet,ORPHA:178145,Subtype of disorder,[Clinical subtype],Moderate multiminicore disease with hand involvement,,,[117000],,,,,,,, +GARD:17079,Active,Orphanet,ORPHA:178307,Disorder,[Disease],Reticulate acropigmentation of Kitamura,[RAK],"A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.",[615537],,,,,,,, +GARD:1708,Active,Orphanet+OMIM,OMIM:605192,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 23",,,[605192],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 23",TRUE,FALSE,Active +GARD:17080,Active,Orphanet,ORPHA:178400,Disorder,[Disease],Distal myopathy with anterior tibial onset,[Distal anterior compartment myopathy],"Distal myopathy with anterior tibial onset is a rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.",[606768],,,,,,,, +GARD:17081,Active,Orphanet,ORPHA:178461,Disorder,[Disease],X-linked myopathy with postural muscle atrophy,[XMPMA],"X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.",[300696],,,,,,,, +GARD:17082,Active,Orphanet,ORPHA:178506,Disorder,[Disease],"Brain calcification, Rajab type",,"A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.","[619013, 613658]",,,,,,,, +GARD:17083,Active,Orphanet,ORPHA:179494,Subtype of disorder,[Etiological subtype],Obesity due to leptin receptor gene deficiency,,"A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency.",[614963],,,,,,,, +GARD:17084,Active,Orphanet,ORPHA:183663,Disorder,[Disease],Hyper-IgM syndrome with susceptibility to opportunistic infections,[HIGM with susceptibility to opportunistic infections],"Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation.","[308230, 606843]",,,,,,,, +GARD:17085,Active,Orphanet,ORPHA:183666,Disorder,[Disease],Hyper-IgM syndrome without susceptibility to opportunistic infections,[HIGM without susceptibility to opportunistic infections],"Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.","[608106, 605258, 608184]",,,,,,,, +GARD:17086,Active,Orphanet,ORPHA:183675,Disorder,[Disease],Recurrent infections associated with rare immunoglobulin isotypes deficiency,"[IgG subclass deficiency with IgA subclass deficiency, Isolated IgG subclass deficiency, Kappa-chain deficiency, Selective IgG subclass deficiency]","Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.",[614102],,,,,,,, +GARD:17087,Active,Orphanet,ORPHA:183707,Disorder,[Disease],Neutrophil immunodeficiency syndrome,,"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.","[618987, 608203]",,,,,,,, +GARD:17088,Active,Orphanet,ORPHA:189466,Subtype of disorder,[Clinical subtype],Familial isolated hypoparathyroidism due to impaired PTH secretion,,,[146200],,,,,,,, +GARD:17089,Active,Orphanet,ORPHA:199279,Disorder,[Disease],Familial angiolipomatosis,,"Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.",[206550],,,,,,,, +GARD:1709,Legacy,GARD,,,,,,,,,,,,"Deafness, isolated, due to mitochondrial transmission",TRUE,FALSE,Active +GARD:17090,Active,Orphanet,ORPHA:199285,Disorder,[Disease],Hereditary hypercarotenemia and vitamin A deficiency,,"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.","[115300, 277350]",,,,,,,, +GARD:17091,Active,Orphanet,ORPHA:199302,Disorder,[Morphological anomaly],Isolated cleft lip,,Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.,"[608874, 225060, 602966, 608371, 600757, 612858, 119530, 610361, 129400]",,,,,,,, +GARD:17092,Active,Orphanet,ORPHA:199306,Disorder,[Morphological anomaly],Cleft lip/palate,"[Alveolar cleft lip and palate, Cleft lip and palate, Cleft lip-alveolus-palate syndrome, FLP]","Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.","[225060, 618149, 608864, 600625, 608371, 600757, 612858, 610361, 129400, 608874, 616788, 602966, 119530, 613705]",,,,,,,, +GARD:17093,Active,Orphanet,ORPHA:199315,Disorder,[Malformation syndrome],Familial clubfoot with or without associated lower limb anomalies,,"Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.","[613618, 119800]",,,,,,,, +GARD:17094,Active,Orphanet,ORPHA:199332,Disorder,[Malformation syndrome],Endocrine-cerebro-osteodysplasia syndrome,[ECO syndrome],"Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.",[612651],,,,,,,, +GARD:17095,Active,Orphanet,ORPHA:199337,Disorder,[Disease],Pancreatic insufficiency-anemia-hyperostosis syndrome,,"This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.",[612714],,,,,,,, +GARD:17096,Active,Orphanet,ORPHA:199340,Disorder,[Disease],"Muscular dystrophy, Selcen type",,Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.,[612954],,,,,,,, +GARD:17097,Active,Orphanet,ORPHA:199348,Disorder,[Disease],Thiamine-responsive encephalopathy,,Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine.,[607483],,,,,,,, +GARD:17098,Active,Orphanet,ORPHA:200418,Disorder,[Disease],Immunodeficiency with factor I anomaly,[Complete factor I deficiency],"Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumoniae), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.",[610984],,,,,,,, +GARD:17099,Active,Orphanet,ORPHA:200421,Disorder,[Disease],Immunodeficiency with factor H anomaly,,"Immunodeficiency with factor H anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properdin, complement C3 and terminal complement components.",[609814],,,,,,,, +GARD:171,Legacy,GARD,,,,,,,,,,,,Le Marec Bracq Picaud syndrome,TRUE,FALSE,Active +GARD:1710,Legacy,GARD,,,,,,,,,,,,"Deafness, neurosensory nonsyndromic recessive, DFN",TRUE,FALSE,Active +GARD:17100,Active,Orphanet,ORPHA:206484,Disorder,[Disease],Gonadoblastoma,,"Gonadoblastoma is a rare benign neoplasm of mixed sex cord and germ cells, arising mostly in the dysgenic gonads of young women with a chromosome Y anomaly, presenting with abdominal enlargement, variable feminization or virilization or, in some cases, being asymptomatic. It is often associated with dysgerminoma.",[424500],,,,,,,, +GARD:17101,Active,Orphanet,ORPHA:206580,Disorder,[Disease],Autosomal recessive lower motor neuron disease with childhood onset,"[Autosomal recessive distal spinal muscular atrophy type 4, Distal spinal muscular atrophy type 4, dSMA4]","A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.",[611067],,,,,,,, +GARD:17102,Active,Orphanet,ORPHA:209335,Disorder,[Disease],Autosomal dominant adult-onset proximal spinal muscular atrophy,"[Autosomal dominant adult-onset proximal SMA, Autosomal dominant late-onset spinal muscular atrophy, Finkel type, Finkel disease, SMAFK]","A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.",[182980],,,,,,,, +GARD:17103,Active,Orphanet,ORPHA:209370,Disorder,[Disease],Severe neonatal-onset encephalopathy with microcephaly,[Severe congenital encephalopathy due to MECP2 mutation],"Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.",[300673],,,,,,,, +GARD:17104,Active,Orphanet,ORPHA:209867,Disorder,[Disease],Autosomal dominant rhegmatogenous retinal detachment,,"A rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.",[609508],,,,,,,, +GARD:17105,Active,Orphanet,ORPHA:209916,Disorder,[Disease],Extraskeletal myxoid chondrosarcoma,,"A rare soft tissue sarcoma characterized by a lesion in the deep soft tissues of the proximal extremities and limb girdles, composed of malignant chondroblast-like cells arranged in cords, clusters, or networks, and an abundant myxoid matrix. The tumor is typically encased by a pseudocapsule and divided into multiple nodules by fibrous septa. Patients present with a soft tissue mass which can be painful and may ulcerate the skin or restrict range of motion if located next to joints. Despite prolonged survival, local recurrence and metastasis are frequent.",[612237],,,,,,,, +GARD:17106,Active,Orphanet,ORPHA:209919,Disorder,[Disease],Idiopathic copper-associated cirrhosis,[Non-Wilsonian hepatic copper toxicosis of infancy and childhood],"Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.",[215600],,,,,,,, +GARD:17107,Active,Orphanet,ORPHA:209967,Disorder,[Disease],Episodic ataxia type 6,,"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.",[612656],,,,,,,, +GARD:17108,Active,Orphanet,ORPHA:209970,Disorder,[Disease],Episodic ataxia type 7,,"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.",[611907],,,,,,,, +GARD:17109,Active,Orphanet,ORPHA:210141,Disorder,[Disease],Inherited congenital spastic tetraplegia,[Inherited congenital spastic quadriplegia],"Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.","[617008, 612900]",,,,,,,, +GARD:17110,Active,Orphanet,ORPHA:210144,Disorder,[Malformation syndrome],"Lethal polymalformative syndrome, Boissel type",,"Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.",[612938],,,,,,,, +GARD:17111,Active,Orphanet,ORPHA:210163,Disorder,[Disease],"Congenital lethal myopathy, Compton-North type",,"Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.",[612540],,,,,,,, +GARD:17112,Active,Orphanet,ORPHA:210548,Disorder,[Disease],Macrocephaly-intellectual disability-autism syndrome,,"A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.","[605309, 613926]",,,,,,,, +GARD:17113,Active,Orphanet,ORPHA:211067,Disorder,[Disease],Episodic ataxia type 5,,Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours.,[613855],,,,,,,, +GARD:17114,Active,Orphanet,ORPHA:216866,Subtype of disorder,[Clinical subtype],Classic pantothenate kinase-associated neurodegeneration,"[NBIA1, classic form, Neurodegeneration with brain iron accumulation type 1, classic form, PKAN, classic form]",,[234200],,,,,,,, +GARD:17115,Active,Orphanet,ORPHA:216873,Subtype of disorder,[Clinical subtype],Atypical pantothenate kinase-associated neurodegeneration,"[NBIA1, atypical form, Neurodegeneration with brain iron accumulation type 1, atypical form, PKAN, atypical form]",,[234200],,,,,,,, +GARD:17116,Active,Orphanet,ORPHA:217026,Disorder,[Malformation syndrome],"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type","[Hadziselimovic syndrome, Microcephaly-faciocardioskeletal syndrome]","Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations (see this term), characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot; see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.",[612946],,,,,,,, +GARD:17117,Active,Orphanet,ORPHA:217059,Disorder,[Morphological anomaly],Isolated congenital digital clubbing,"[Isolated congenital acropachy, Isolated congenital nail clubbing]",Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.,[119900],,,,,,,, +GARD:17118,Active,Orphanet,ORPHA:217085,Subtype of disorder,[Clinical subtype],"Mucopolysaccharidosis type 2, severe form","[Hunter syndrome type A, Iduronate 2-sulfatase deficiency type A, MPS2A, MPSIIA, Mucopolysaccharidosis type 2A, Mucopolysaccharidosis type II, severe form, Mucopolysaccharidosis type IIA]","Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.",[309900],,,,,,,, +GARD:17119,Active,Orphanet,ORPHA:217093,Subtype of disorder,[Clinical subtype],"Mucopolysaccharidosis type 2, attenuated form","[Hunter syndrome type B, Iduronate 2-sulfatase deficiency type B, MPS2B, MPSIIB, Mucopolysaccharidosis type 2B, Mucopolysaccharidosis type II, attenuated form, Mucopolysaccharidosis type IIB]","Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.",[309900],,,,,,,, +GARD:17120,Active,Orphanet,ORPHA:217335,Disorder,[Malformation syndrome],RIN2 syndrome,"[MACS syndrome, Macrocephaly-alopecia-cutis laxa-scoliosis syndrome, RIN2 deficiency, Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome]","RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.",[613075],,,,,,,, +GARD:17121,Active,Orphanet,ORPHA:217340,Disorder,[Malformation syndrome],17q21.31 microduplication syndrome,"[Dup(17)(q21.31), Trisomy 17q21.31]","The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.",[613533],,,,,,,, +GARD:17122,Active,Orphanet,ORPHA:217385,Disorder,[Malformation syndrome],17p13.3 microduplication syndrome,"[17p13.3 duplication syndrome, Dup(17)(p13.3), Trisomy 17p13.3]",17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.,[613215],,,,,,,, +GARD:17123,Active,Orphanet,ORPHA:217396,Disorder,[Disease],Progressive polyneuropathy with bilateral striatal necrosis,,"Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.",[613710],,,,,,,, +GARD:17124,Active,Orphanet,ORPHA:217407,Disorder,[Disease],Hereditary hypotrichosis with recurrent skin vesicles,,"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.",[613102],,,,,,,, +GARD:17125,Active,Orphanet,ORPHA:217467,Disorder,[Disease],Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,[Hereditary thrombophilia due to congenital HRG deficiency],"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.",[613116],,,,,,,, +GARD:17126,Active,Orphanet,ORPHA:217563,Disorder,[Disease],Neonatal acute respiratory distress due to SP-B deficiency,[Neonatal acute respiratory distress due to surfactant protein B deficiency],"A rare genetic interstitial lung disease characterized by progressive, life-threatening, refractory respiratory distress in full-term neonates associated with surfactant protein B deficiency. In most cases, the disease is fatal within the first months of life. Lung biopsy reveals changes characteristic of pulmonary alveolar proteinosis with interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces.",[265120],,,,,,,, +GARD:17127,Active,Orphanet,ORPHA:217566,Disorder,[Disease],Chronic respiratory distress with surfactant metabolism deficiency,,"Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse.",[610913],,,,,,,, +GARD:17128,Active,Orphanet,ORPHA:217622,Disorder,[Disease],Sensorineural deafness with dilated cardiomyopathy,"[Neurosensory deafness with dilated cardiomyopathy, Neurosensory hearing loss with dilated cardiomyopathy, Sensorineural hearing loss with dilated cardiomyopathy]","Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.",[605362],,,,,,,, +GARD:17129,Active,Orphanet,ORPHA:217656,Disorder,[Disease],Familial isolated arrhythmogenic right ventricular dysplasia,"[Familial isolated ARVC, Familial isolated ARVD, Familial isolated arrhythmogenic right ventricular cardiomyopathy, Familial isolated arrhythmogenic ventricular cardiomyopathy, Familial isolated arrhythmogenic ventricular dysplasia]","Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.","[604400, 610193, 611528, 615616, 610476, 600996, 607450, 107970, 602086, 604401, 609040, 602087]",,,,,,,, +GARD:17130,Active,Orphanet,ORPHA:220295,Disorder,[Disease],Xeroderma pigmentosum-Cockayne syndrome complex,[XP/CS complex],Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).,"[610651, 278780, 278730, 278760]",,,,,,,, +GARD:17131,Active,Orphanet,ORPHA:220386,Subtype of disorder,[Clinical subtype],Semilobar holoprosencephaly,,"A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.","[609637, 301043, 610829, 157170]",,,,,,,, +GARD:17132,Active,Orphanet,ORPHA:220443,Disorder,[Disease],Bleeding diathesis due to thromboxane synthesis deficiency,,"Bleeding diathesis due to thromboxane synthesis deficiency is a rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).",[614009],,,,,,,, +GARD:17133,Active,Orphanet,ORPHA:220465,Disorder,[Disease],Laron syndrome with immunodeficiency,"[Laron-like syndrome, Short stature due to STAT5b deficiency]",This syndrome is characterized by severe growth retardation associated with immunodeficiency.,"[245590, 618985]",,,,,,,, +GARD:17134,Active,Orphanet,ORPHA:221008,Subtype of disorder,[Clinical subtype],Rothmund-Thomson syndrome type 1,"[Poikiloderma of Rothmund-Thomson type 1, RTS1]","Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer.","[618625, 268400]",,,,,,,, +GARD:17135,Active,Orphanet,ORPHA:221016,Subtype of disorder,[Clinical subtype],Rothmund-Thomson syndrome type 2,"[Poikiloderma of Rothmund-Thomson type 2, RTS2]","Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.",[268400],,,,,,,, +GARD:17136,Active,Orphanet,ORPHA:221039,Disorder,[Disease],"Hereditary sclerosing poikiloderma, Weary type",,"A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.",[173700],,,,,,,, +GARD:17137,Active,Orphanet,ORPHA:221083,Disorder,[Disease],Hemifacial spasm,"[Facial hemispasm, Focal myoclonus of face]","A rare acquired peripheral neuropathy characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses.",[141405],,,,,,,, +GARD:17138,Active,Orphanet,ORPHA:221126,Disorder,[Malformation syndrome],Fowler vasculopaty,"[Cerebral proliferative glomeruloid vasculopathy, Encephaloclastic proliferative vasculopathy, Hydrocephaly/hydranencephaly due to cerebral vasculopathy, Proliferative vasculopathy and hydranencephaly/hydrocephaly]","A rare, genetic neurological disorder characterized by hydranencephaly, distinctive glomeruloid vasculopathy in the central nervous system and retina, polyhydramnios and fetal akinesia with arthrogryposis. The disorder is usually prenatally lethal. In rare reported cases that survived beyond infancy, severe intellectual and neurologic disability with seizures, microcephaly and absence of functional movements were reported.",[225790],,,,,,,, +GARD:17139,Active,Orphanet,ORPHA:221139,Disorder,[Disease],Combined immunodeficiency with faciooculoskeletal anomalies,[Roifman-Chitayat syndrome],"A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).",[613328],,,,,,,, +GARD:17140,Active,Orphanet,ORPHA:221145,Disorder,[Malformation syndrome],"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies","[ARCL1C, Autosomal recessive cutis laxa type 1C, Urban-Rifkin-Davis syndrome]","A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).",[613177],,,,,,,, +GARD:17141,Active,Orphanet,ORPHA:225154,Disorder,[Disease],Familial infantile bilateral striatal necrosis,"[Familial IBSN, Familial infantile striatonigral degeneration, Familial infantile striatonigral necrosis]","Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.","[271930, 500003]",,,,,,,, +GARD:17142,Active,Orphanet,ORPHA:227535,Disorder,[Disease],Hereditary breast cancer,"[Familial breast cancer, Familial breast carcinoma, Hereditary breast carcinoma]","A rare genetic gynecological tumor characterized by early onset breast cancer in association with a germline mutation. Tumors arising in carriers of BRCA1 and BRCA2 mutations differ morphologically and genetically from each other, as well as from sporadic breast cancers. Most BRCA1-associated tumors are invasive ductal adenocarcinomas of no special type, typically of higher grade than sporadic tumors, and more often negative for hormone receptors. In addition, more cases with features of typical or atypical medullary carcinoma are seen in these patients. Likewise, BRCA2-associated tumors tend to be of higher grade than sporadic ones, although their phenotype is similar. They show a low frequency of HER-2 expression.","[612555, 604370, 114480, 613399]",,,,,,,, +GARD:17143,Active,Orphanet,ORPHA:227976,Disorder,[Disease],"Autosomal recessive optic atrophy, OPA7 type",,"A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.",[612989],,,,,,,, +GARD:17144,Active,Orphanet,ORPHA:228003,Disorder,[Disease],Severe combined immunodeficiency due to CORO1A deficiency,"[SCID due to CORO1A deficiency, SCID due to coronin-1A deficiency, Severe combined immunodeficiency due to coronin-1A deficiency]","A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder).",[615401],,,,,,,, +GARD:17145,Active,Orphanet,ORPHA:228012,Disorder,[Disease],Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,"[Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome, Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome, Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome]","A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.",[606346],,,,,,,, +GARD:17146,Active,Orphanet,ORPHA:228169,Disorder,[Disease],Autosomal dominant striatal neurodegeneration,[ADSD],"An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.",[609161],,,,,,,, +GARD:17147,Active,Orphanet,ORPHA:228179,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2M,[CMT2M],"A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.",[606482],,,,,,,, +GARD:17148,Active,Orphanet,ORPHA:228190,Disorder,[Malformation syndrome],Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,[Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome],"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.",[604381],,,,,,,, +GARD:17149,Active,Orphanet,ORPHA:228302,Subtype of disorder,[Clinical subtype],"Carnitine palmitoyl transferase II deficiency, myopathic form","[CPT2, adult-onset form, CPT2, myopathic form, CPTII, adult-onset form, CPTII, myopathic form, Carnitine palmitoyl transferase II deficiency, adult-onset form, Carnitine palmitoyl transferase deficiency type 2, adult-onset form, Carnitine palmitoyl transferase deficiency type 2, myopathic form]","The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).",[255110],,,,,,,, +GARD:1715,Legacy,GARD,,,,,,,,,,,,"Deafness, X-linked, DFN",TRUE,FALSE,Active +GARD:17150,Active,Orphanet,ORPHA:228305,Subtype of disorder,[Clinical subtype],"Carnitine palmitoyl transferase II deficiency, severe infantile form","[CPT2, hepatocardiomuscular form, CPT2, severe infantile form, CPTII, hepatocardiomuscular form, CPTII, severe infantile form, Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form, Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form, Carnitine palmitoyl transferase deficiency type 2, severe infantile form]","The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.",[600649],,,,,,,, +GARD:17151,Active,Orphanet,ORPHA:228308,Subtype of disorder,[Clinical subtype],"Carnitine palmitoyl transferase II deficiency, neonatal form","[CPT2, lethal systemic form, CPT2, neonatal form, CPTII, lethal systemic form, CPTII, neonatal form, Carnitine palmitoyl transferase II deficiency, lethal systemic form, Carnitine palmitoyl transferase deficiency type 2, lethal systemic form, Carnitine palmitoyl transferase deficiency type 2, neonatal form]","The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.",[608836],,,,,,,, +GARD:17152,Active,Orphanet,ORPHA:228354,Subtype of disorder,[Etiological subtype],CLN8 disease,,,[600143],,,,,,,, +GARD:17153,Active,Orphanet,ORPHA:228374,Disorder,[Disease],Charcot-Marie-Tooth disease type 2B5,"[AR-CMT2B5, Autosomal recessive Charcot-Marie-Tooth disease type 2B5, SEOAN due to NEFL deficiency, Severe early-onset axonal neuropathy due to NEFL deficiency, Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency]","A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.",[607734],,,,,,,, +GARD:17154,Active,Orphanet,ORPHA:228387,Disorder,[Disease],Spondylo-megaepiphyseal-metaphyseal dysplasia,,"Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.",[613330],,,,,,,, +GARD:17155,Active,Orphanet,ORPHA:229717,Disorder,[Disease],Isolated agammaglobulinemia,[Isolated hypogammaglobulinemia],"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.","[613506, 300310, 616941, 613500, 615214, 613501, 300755, 613502, 601495, 612692]",,,,,,,, +GARD:17156,Active,Orphanet,ORPHA:230857,Disorder,[Disease],Ehlers-Danlos/osteogenesis imperfecta syndrome,[EDS/OI syndrome],"A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.","[619115, 619120]",,,,,,,, +GARD:17157,Active,Orphanet,ORPHA:231031,Disorder,[Disease],Erythema palmare hereditarium,"[Lane disease, Red palms disease]","Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.",[133000],,,,,,,, +GARD:17158,Active,Orphanet,ORPHA:231040,Disorder,[Disease],Familial generalized lentiginosis,"[Familial lentigines profusa, Familial multiple lentigines syndrome without systemic involvement]","Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.",[151001],,,,,,,, +GARD:17159,Active,Orphanet,ORPHA:231108,Subtype of disorder,[Clinical subtype],Familial rhabdoid tumor,"[RTPS, Rhabdoid tumor predisposition syndrome]",,"[613325, 609322]",,,,,,,, +GARD:17160,Active,Orphanet,ORPHA:231120,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to CDKN1C mutation,,,[130650],,,,,,,, +GARD:17161,Active,Orphanet,ORPHA:231160,Disorder,[Disease],Familial cerebral saccular aneurysm,"[Familial berry aneurysm, Familial intracranial saccular aneurysm]","A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms.","[609122, 300870, 618734, 608542, 611892, 612161, 612586, 105800, 614252, 612162, 612587, 610213]",,,,,,,, +GARD:17162,Active,Orphanet,ORPHA:231214,Subtype of disorder,[Clinical subtype],Beta-thalassemia major,"[Cooley anemia, Mediterranean anemia]",Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.,[613985],,,,,,,, +GARD:17163,Active,Orphanet,ORPHA:231222,Subtype of disorder,[Clinical subtype],Beta-thalassemia intermedia,,Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion.,[613985],,,,,,,, +GARD:17164,Active,Orphanet,ORPHA:231226,Subtype of disorder,[Clinical subtype],Dominant beta-thalassemia,[Inclusion body beta-thalassemia],Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia.,[603902],,,,,,,, +GARD:17165,Active,Orphanet,ORPHA:231237,Disorder,[Disease],Delta-beta-thalassemia,,Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.,[141749],,,,,,,, +GARD:17166,Active,Orphanet,ORPHA:231393,Disorder,[Disease],Beta-thalassemia-X-linked thrombocytopenia syndrome,[XLTT],"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.",[314050],,,,,,,, +GARD:17167,Active,Orphanet,ORPHA:231401,Disorder,[Disease],Alpha-thalassemia-myelodysplastic syndrome,"[ATMDS, Acquired HbH disease, Acquired hemoglobin H disease]",An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).,[300448],,,,,,,, +GARD:17168,Active,Orphanet,ORPHA:231500,Subtype of disorder,[Clinical subtype],Hermansky-Pudlak syndrome due to BLOC-3 deficiency,"[HPS with pulmonary fibrosis, Hermansky-Pudlak syndrome with pulmonary fibrosis]","Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.","[203300, 614073]",,,,,,,, +GARD:17169,Active,Orphanet,ORPHA:231512,Subtype of disorder,[Clinical subtype],Hermansky-Pudlak syndrome due to BLOC-2 deficiency,"[HPS without pulmonary fibrosis, Hermansky-Pudlak syndrome without pulmonary fibrosis]","Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.","[614072, 614074, 614075]",,,,,,,, +GARD:1717,Legacy,GARD,,,,,,,,,,,,Deal Barratt Dillon syndrome,TRUE,FALSE,Retired +GARD:17170,Active,Orphanet,ORPHA:231531,Subtype of disorder,[Clinical subtype],Hermansky-Pudlak syndrome due to BLOC-1 deficiency,,,"[614171, 619172, 614076, 614077]",,,,,,,, +GARD:17171,Active,Orphanet,ORPHA:238329,Disorder,[Disease],Severe X-linked mitochondrial encephalomyopathy,"[Mitochondrial encephalomyopathy due to COXPD6, Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6]","Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.",[300816],,,,,,,, +GARD:17172,Active,Orphanet,ORPHA:238446,Disorder,[Malformation syndrome],15q11q13 microduplication syndrome,"[15q11q13 duplication syndrome, Dup(15)(q11q13), Trisomy 15q11q13]","The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.",[608636],,,,,,,, +GARD:17173,Active,Orphanet,ORPHA:238475,Disorder,[Disease],Familial hypercholanemia,[Hereditary hypercholanemia],"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.","[619256, 607748]",,,,,,,, +GARD:17174,Active,Orphanet,ORPHA:238505,Disorder,[Disease],Combined immunodeficiency due to CD27 deficiency,"[Autosomal recessive lymphoproliferative disease due to CD27 deficiency, CD27 deficiency]","A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.",[615122],,,,,,,, +GARD:17175,Active,Orphanet,ORPHA:238523,Disorder,[Disease],Atypical hypotonia-cystinuria syndrome,[Atypical HCS],"A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).",[606407],,,,,,,, +GARD:17176,Active,Orphanet,ORPHA:238557,Disorder,[Disease],Chuvash erythrocytosis,"[Chuvash polycythemia, Von Hippel-Lindau-dependent polycythemia]","Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.",[263400],,,,,,,, +GARD:17177,Active,Orphanet,ORPHA:238578,Subtype of disorder,[Etiological subtype],Familial clubfoot due to 17q23.1q23.2 microduplication,[Hereditary clubfoot due to 17q23.1-q23.2 microduplication],17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.,[613618],,,,,,,, +GARD:17178,Active,Orphanet,ORPHA:238613,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to NSD1 mutation,,,[130650],,,,,,,, +GARD:17179,Active,Orphanet,ORPHA:238670,Disorder,[Disease],Isolated thyrotropin-releasing hormone deficiency,"[Isolated TRF deficiency, Isolated TRH deficiency, Isolated TSH-releasing factor deficiency, Isolated prothyroliberin deficiency, Isolated protirelin deficiency, Isolated thyroliberin deficiency, Isolated thyrotropin-releasing factor deficiency]",,[275120],,,,,,,, +GARD:17180,Active,Orphanet,ORPHA:238744,Disorder,[Malformation syndrome],Mammary-digital-nail syndrome,"[MDN syndrome, Onycho-digito-mammary syndrome]","Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.",[613689],,,,,,,, +GARD:17181,Active,Orphanet,ORPHA:238750,Disorder,[Malformation syndrome],4q21 microdeletion syndrome,"[Del(4)(q21), Monosomy 4q21]","The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.",[613509],,,,,,,, +GARD:17182,Active,Orphanet,ORPHA:240071,Subtype of disorder,[Clinical subtype],Classic progressive supranuclear palsy syndrome,"[Classic PSP syndrome, Richardson syndrome, Steele-Richardson-Olszewski disease]","A classical form of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by slowing of vertical saccadic eye movements, falls due to postural instability, axial akinetic-rigid syndrome, and cognitive impairment. Difficulties in speech and swallowing may develop.","[601104, 610898, 609454]",,,,,,,, +GARD:17183,Active,Orphanet,ORPHA:240085,Subtype of disorder,[Clinical subtype],Progressive supranuclear palsy-parkinsonism syndrome,"[PSP-p, PSP-parkinsonism]","An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP.",[260540],,,,,,,, +GARD:17184,Active,Orphanet,ORPHA:240760,Disorder,[Malformation syndrome],Nijmegen breakage syndrome-like disorder,"[Microcephaly and chromosomal instability without immunodeficiency, NBS-like disorder, NBSLD, RAD50 deficiency]","Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.",[613078],,,,,,,, +GARD:17185,Active,Orphanet,ORPHA:243343,Disorder,[Disease],Dimethylglycine dehydrogenase deficiency,"[DMG dehydrogenase deficiency, DMGDH deficiency]",Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.,[605850],,,,,,,, +GARD:17186,Active,Orphanet,ORPHA:244305,Disorder,[Disease],Dominant hypophosphatemia with nephrolithiasis or osteoporosis,,"A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.","[612286, 612287]",,,,,,,, +GARD:17187,Active,Orphanet,ORPHA:247198,Disorder,[Disease],Progressive cerebello-cerebral atrophy,[PCCA],"A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter, but no pontine involvement.",[615851],,,,,,,, +GARD:17188,Active,Orphanet,ORPHA:247262,Disorder,[Disease],Hyperphosphatasia-intellectual disability syndrome,[Mabry syndrome],"A rare, congenital disorder of glycosylation-related bone disorder characterized by hypotonia, severe developmental delay, intellectual disability, seizures, increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and dysmorphic facial features. In some cases, cleft palate, megacolon, anorectal malformations, and congenital heart defects have been reported.","[615716, 616025, 614207, 616809, 614749, 239300]",,,,,,,, +GARD:17189,Active,Orphanet,ORPHA:247511,Disorder,[Disease],Autosomal dominant secondary polycythemia,[Autosomal dominant secondary erythrocytosis],"A rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.","[611783, 609820]",,,,,,,, +GARD:17190,Active,Orphanet,ORPHA:247522,Disorder,[Disease],Primary ciliary dyskinesia-retinitis pigmentosa syndrome,,"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.",[300455],,,,,,,, +GARD:17191,Active,Orphanet,ORPHA:247623,Subtype of disorder,[Clinical subtype],Perinatal lethal hypophosphatasia,"[Perinatal lethal Rathbun disease, Perinatal lethal phosphoethanolaminuria]","A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.",[241500],,,,,,,, +GARD:17192,Active,Orphanet,ORPHA:247651,Subtype of disorder,[Clinical subtype],Infantile hypophosphatasia,"[Infantile Rathbun disease, Infantile phosphoethanolaminuria]","A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.",[241500],,,,,,,, +GARD:17193,Active,Orphanet,ORPHA:247676,Subtype of disorder,[Clinical subtype],Adult hypophosphatasia,"[Adult Rathbun disease, Adult phosphoethanolaminuria]","A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies.",[146300],,,,,,,, +GARD:17194,Active,Orphanet,ORPHA:247685,Subtype of disorder,[Clinical subtype],Odontohypophosphatasia,,"A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.",[146300],,,,,,,, +GARD:17195,Active,Orphanet,ORPHA:247768,Disorder,[Malformation syndrome],Müllerian aplasia and hyperandrogenism,"[Müllerian duct failure and hyperandrogenism, WNT4 deficiency]","A rare syndrome with 46,XX disorder of sex development characterized by Müllerian duct hypoplasia or agenesis associated with clinical and biological evidence of hyperandrogenism in 46,XX females. Patients present with hypoplastic or absent uterus, variable abnormalities of other reproductive organs, primary amenorrhea, acne, hirsutism, and sometimes renal anomalies. External genitalia and secondary sexual characteristics are normal. Hormonal analysis shows variably elevated serum levels of androstenedione, dehydroepiandrosterone, and/or total and free testosterone.",[158330],,,,,,,, +GARD:17196,Active,Orphanet,ORPHA:247794,Disorder,[Disease],Juvenile cataract-microcornea-renal glucosuria syndrome,[Juvenile cataract-microcornea-renal glycosuria syndrome],"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.",[612018],,,,,,,, +GARD:17197,Active,Orphanet,ORPHA:247806,Subtype of disorder,[Clinical subtype],APC-related attenuated familial adenomatous polyposis,"[APC-related AFAP, APC-related attenuated FAP, APC-related attenuated familial polyposis coli]",,[175100],,,,,,,, +GARD:17198,Active,Orphanet,ORPHA:247820,Disorder,[Malformation syndrome],Ectodermal dysplasia-syndactyly syndrome,"[EDSS, EDSS1]","Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.",[613573],,,,,,,, +GARD:17199,Active,Orphanet,ORPHA:247827,Disorder,[Malformation syndrome],Ectodermal dysplasia-cutaneous syndactyly syndrome,"[EDCS, EDSS2]",,[613576],,,,,,,, +GARD:172,Active,Orphanet,ORPHA:2427,Disorder,[Malformation syndrome],Macrocephaly-short stature-paraplegia syndrome,[Volcke-Soekarman syndrome],"A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.",,,,,,Macrocephaly-short stature-paraplegia syndrome,TRUE,FALSE,Active +GARD:1720,Legacy,GARD,,,,,,,,,,,,Defective apolipoprotein B-100,TRUE,FALSE,Active +GARD:17200,Active,Orphanet,ORPHA:247834,Disorder,[Disease],Occult macular dystrophy,"[OCMD, OMD]","Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.",[613587],,,,,,,, +GARD:17201,Active,Orphanet,ORPHA:247868,Disorder,[Disease],NLRP12-associated hereditary periodic fever syndrome,"[FCAS2, Familial cold autoinflammatory syndrome type 2, NAPS12]","NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.",[611762],,,,,,,, +GARD:17202,Active,Orphanet,ORPHA:248408,Subtype of disorder,[Clinical subtype],Familial hypodysfibrinogenemia,,,[616004],,,,,,,, +GARD:17203,Active,Orphanet,ORPHA:250984,Subtype of disorder,[Clinical subtype],Autosomal recessive Stickler syndrome,,"A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.","[614134, 614284]",,,,,,,, +GARD:17204,Active,Orphanet,ORPHA:251028,Subtype of disorder,[Etiological subtype],SATB2-associated syndrome due to a chromosomal rearrangement,"[2q33.1 microdeletion syndrome, Del(2)(q33.1), Monosomy 2q33.1]",,[612313],,,,,,,, +GARD:17205,Active,Orphanet,ORPHA:251279,Disorder,[Disease],Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,[Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome],"Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.",[611040],,,,,,,, +GARD:17206,Active,Orphanet,ORPHA:251282,Disorder,[Disease],Autosomal dominant spastic ataxia type 1,[SPAX1],"A rare, genetic, autosomal dominant spastic ataxia disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances.",[108600],,,,,,,, +GARD:17207,Active,Orphanet,ORPHA:251290,Disorder,[Malformation syndrome],Parietal foramina with clavicular hypoplasia,[Parietal foramina with cleidocranial dysplasia],"A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.",[168550],,,,,,,, +GARD:17208,Active,Orphanet,ORPHA:251295,Disorder,[Disease],Pigmented paravenous retinochoroidal atrophy,[PPRCA],"Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.",[172870],,,,,,,, +GARD:17209,Active,Orphanet,ORPHA:251347,Disorder,[Disease],Ataxia-telangiectasia-like disorder,[ATLD],"A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent.",[604391],,,,,,,, +GARD:17210,Active,Orphanet,ORPHA:251383,Disorder,[Malformation syndrome],CK syndrome,[X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome],"CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.",[300831],,,,,,,, +GARD:17211,Active,Orphanet,ORPHA:251510,Disorder,[Malformation syndrome],"46,XY partial gonadal dysgenesis","[46,XY PGD, 46,XY partial testicular dysgenesis]","46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.","[300018, 612965, 616425, 616067, 154230, 613762, 615542]",,,,,,,, +GARD:17212,Active,Orphanet,ORPHA:251515,Disorder,[Malformation syndrome],Distal arthrogryposis type 10,"[DA10, Plantar flexion contracture, Short Achilles tendon, Short tendo calcaneus]","A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.",[187370],,,,,,,, +GARD:17213,Active,Orphanet,ORPHA:251523,Disorder,[Disease],Hyperzincemia and hypercalprotectinemia,"[Hz/Hc, PAMI syndrome, PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome]","A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.",[194470],,,,,,,, +GARD:17214,Active,Orphanet,ORPHA:251858,Subtype of disorder,[Histopathological subtype],Medulloblastoma with extensive nodularity,[MBEN],"Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma (see this term), an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome (see this term) and has a relatively good prognosis.",[155255],,,,,,,, +GARD:17215,Active,Orphanet,ORPHA:251863,Subtype of disorder,[Histopathological subtype],Desmoplastic/nodular medulloblastoma,,"Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.",[155255],,,,,,,, +GARD:17216,Active,Orphanet,ORPHA:251867,Subtype of disorder,[Histopathological subtype],Classic medulloblastoma,,"Classic medulloblastoma is a histological variant of medulloblastoma (see this term) ,an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.",[155255],,,,,,,, +GARD:17217,Active,Orphanet,ORPHA:252202,Disorder,[Disease],Constitutional mismatch repair deficiency syndrome,[CMMR-D syndrome],"Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.","[276300, 619096, 619097, 619101]",,,,,,,, +GARD:17218,Active,Orphanet,ORPHA:254351,Disorder,[Malformation syndrome],Distal 7q11.23 microdeletion syndrome,"[Distal del(7)(q11.23), Distal monosomy 7q11.23]","Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).",[613729],,,,,,,, +GARD:17219,Active,Orphanet,ORPHA:254519,Disorder,[Malformation syndrome],Kagami-Ogata syndrome,[KOS],"Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.",[608149],,,,,,,, +GARD:1722,Active,Orphanet,ORPHA:315,Disorder,[Disease],Erythrokeratoderma ''en cocardes'',"[Degos genodermatosis ""en cocardes""]","A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.",,,,,,Erythrokeratoderma ''en cocardes'',TRUE,FALSE,Active +GARD:17220,Active,Orphanet,ORPHA:254525,Subtype of disorder,[Etiological subtype],Temple syndrome due to paternal 14q32.2 microdeletion,[Paternal del(14)(q32.2)],,[616222],,,,,,,, +GARD:17221,Active,Orphanet,ORPHA:254528,Subtype of disorder,[Etiological subtype],Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,"[Maternal del(14)(q32.2), Maternal monosomy 14q32.2]",,[608149],,,,,,,, +GARD:17222,Active,Orphanet,ORPHA:254531,Subtype of disorder,[Etiological subtype],Temple syndrome due to paternal 14q32.2 hypomethylation,,,[616222],,,,,,,, +GARD:17223,Active,Orphanet,ORPHA:254534,Subtype of disorder,[Etiological subtype],Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,,,[608149],,,,,,,, +GARD:17224,Active,Orphanet,ORPHA:254688,Subtype of disorder,[Clinical subtype],Complete hydatidiform mole,[Complete molar pregnancy],"A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.","[614293, 618432, 231090, 618431]",,,,,,,, +GARD:17225,Active,Orphanet,ORPHA:254803,Group of disorders,[Clinical group],"Mitochondrial DNA depletion syndrome, encephalomyopathic form","[mtDNA depletion syndrome, encephalomyopathic form]","Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.","[612073, 612075]",,,,,,,, +GARD:17226,Active,Orphanet,ORPHA:254857,Disorder,[Disease],Lethal infantile mitochondrial myopathy,"[LIMD, LIMM, Lethal infantile mitochondrial disease]","Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.",[551000],,,,,,,, +GARD:17227,Active,Orphanet,ORPHA:254864,Disorder,[Disease],Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,"[Benign COX deficiency, Infantile reversible cytochrome C oxidase deficiency myopathy, Mitochondrial myopathy with reversible COX deficiency, Mitochondrial myopathy with reversible complex IV deficiency, Reversible infantile cytochrome C oxidase deficiency, Reversible infantile respiratory chain deficiency]","A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.",[500009],,,,,,,, +GARD:17228,Active,Orphanet,ORPHA:254875,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, myopathic form","[mtDNA depletion syndrome, myopathic form]","A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.","[609560, 618972]",,,,,,,, +GARD:17229,Active,Orphanet,ORPHA:254881,Disorder,[Disease],Spinocerebellar ataxia with epilepsy,"[MSCAE, Mitochondrial spinocerebellar ataxia with epilepsy, SCAE]","Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.",[607459],,,,,,,, +GARD:17230,Active,Orphanet,ORPHA:254898,Disorder,[Disease],Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,[Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome],"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.",[614651],,,,,,,, +GARD:17231,Active,Orphanet,ORPHA:254902,Disorder,[Disease],Renal tubulopathy-encephalopathy-liver failure syndrome,,Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders.,[124000],,,,,,,, +GARD:17232,Active,Orphanet,ORPHA:254920,Disorder,[Disease],Combined oxidative phosphorylation defect type 2,[COXPD2],"Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.",[610498],,,,,,,, +GARD:17233,Active,Orphanet,ORPHA:254925,Disorder,[Disease],Combined oxidative phosphorylation defect type 4,[COXPD4],"Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.",[610678],,,,,,,, +GARD:17234,Active,Orphanet,ORPHA:254930,Disorder,[Disease],Combined oxidative phosphorylation defect type 7,"[COXPD7, Severe C12ORF65-related COXPD, Severe C12ORF65-related combined oxidative phosphorylation defect]","Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.",[613559],,,,,,,, +GARD:17235,Active,Orphanet,ORPHA:255132,Disorder,[Disease],Adult-onset autosomal recessive sideroblastic anemia,[GLRX5-related sideroblastic anemia],A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.,[616860],,,,,,,, +GARD:17236,Active,Orphanet,ORPHA:255138,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E1-beta deficiency,"[PDHBD, Pyruvate dehydrogenase complex E1 component subunit beta deficiency]","Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia.",[614111],,,,,,,, +GARD:17237,Active,Orphanet,ORPHA:255182,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E3-binding protein deficiency,"[2-oxoglutarate complex deficiency, Branched chain alpha-ketoacid dehydrogenase complex deficiency, Diaphorase deficiency, Dihydrolipoyl dehydrogenase deficiency, Glycine cleavage system L protein deficiency, Lipoamide dehydrogenase deficiency, Pyruvate dehydrogenase complex component E3 deficiency, Pyruvate dehydrogenase protein X component deficiency]","Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.",[245349],,,,,,,, +GARD:17238,Active,Orphanet,ORPHA:255241,Disorder,[Disease],Leigh syndrome with leukodystrophy,"[Infantile subacute necrotizing encephalopathy with leukodystrophy, Leigh disease with leukodystrophy]",,"[618249, 618228, 618243, 618235, 618229, 618222, 256000, 618244, 616277, 618230, 618224, 252010, 618239, 618233, 618225, 618240, 618226, 618241, 618248, 618257]",,,,,,,, +GARD:17239,Active,Orphanet,ORPHA:255249,Disorder,[Disease],Leigh syndrome with nephrotic syndrome,"[Infantile subacute necrotizing encephalopathy with nephrotic syndrome, Leigh disease with nephrotic syndrome]","A rare, genetic neurometabolic disease characterized by encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral, symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome.","[607426, 614652]",,,,,,,, +GARD:17240,Active,Orphanet,ORPHA:260305,Disorder,[Disease],Autosomal recessive sideroblastic anemia,"[ARSA, Congenital sideroblastic anemia]","Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.","[205950, 182170]",,,,,,,, +GARD:17241,Active,Orphanet,ORPHA:261120,Disorder,[Malformation syndrome],14q11.2 microdeletion syndrome,"[Del(14)(q11.2), Monosomy 14q11.2]","14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.",[613457],,,,,,,, +GARD:17242,Active,Orphanet,ORPHA:261190,Disorder,[Malformation syndrome],15q14 microdeletion syndrome,"[Del(15)(q14), Monosomy 15q14]","15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.",[616898],,,,,,,, +GARD:17243,Active,Orphanet,ORPHA:261211,Disorder,[Malformation syndrome],16p11.2p12.2 microdeletion syndrome,"[Del(16)(p11.2p12.2), Monosomy 16p11.2p12.2]",16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.,[613604],,,,,,,, +GARD:17244,Active,Orphanet,ORPHA:261222,Disorder,[Malformation syndrome],Distal 16p11.2 microdeletion syndrome,"[Distal del(16)(p11.2), Distal monosomy 16p11.2]","Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.",[613444],,,,,,,, +GARD:17245,Active,Orphanet,ORPHA:261330,Disorder,[Malformation syndrome],Distal 22q11.2 microdeletion syndrome,"[Distal del(22)(q11.2), Distal monosomy 22q11.2]","A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the SMARCB1 gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are de novo .",[611867],,,,,,,, +GARD:17246,Active,Orphanet,ORPHA:261476,Disorder,[Disease],Xp21 deletion syndrome,"[Complex GKD, Complex glycerol kinase deficiency, Del(X)(p21), Xp21 contiguous gene deletion syndrome, Xp21 microdeletion syndrome]","A rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.",[300679],,,,,,,, +GARD:17247,Active,Orphanet,ORPHA:261483,Disorder,[Malformation syndrome],Xq27.3q28 duplication syndrome,"[Dup(X)(q27.3q28), Trisomy Xq27.3-q28, Trisomy Xq27.3q28, Xq27.3-q28 microduplication syndrome]","Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.",[300869],,,,,,,, +GARD:17248,Active,Orphanet,ORPHA:261537,Subtype of disorder,[Etiological subtype],Mowat-Wilson syndrome due to monosomy 2q22,"[Hirschsprung disease and intellectual disability due to 2q22 microdeletion, Hirschsprung disease and intellectual disability due to del(2)(q22), Hirschsprung disease and intellectual disability due to monosomy 2q22, Mowat-Wilson syndrome due to 2q22 microdeletion, Mowat-Wilson syndrome due to del(2)q(22)]",,[235730],,,,,,,, +GARD:17249,Active,Orphanet,ORPHA:261552,Subtype of disorder,[Etiological subtype],Mowat-Wilson syndrome due to a ZEB2 point mutation,[Hirschsprung disease and intellectual disability due to a ZEB2 point mutation],,[235730],,,,,,,, +GARD:17250,Active,Orphanet,ORPHA:261600,Subtype of disorder,[Etiological subtype],Alagille syndrome due to 20p12 microdeletion,"[Alagille syndrome due to del(20)(p12), Alagille syndrome due to monosomy 20p12, Alagille-Watson syndrome due to monosomy 20p12, Arteriohepatic dysplasia due to monosomy 20p12, Syndromic bile duct paucity due to monosomy 20p12]",,[118450],,,,,,,, +GARD:17251,Active,Orphanet,ORPHA:261619,Subtype of disorder,[Etiological subtype],Alagille syndrome due to a JAG1 point mutation,"[Alagille-Watson syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia due to a JAG1 point mutation, Syndromic bile duct paucity due to a JAG1 point mutation]",,[118450],,,,,,,, +GARD:17252,Active,Orphanet,ORPHA:261629,Subtype of disorder,[Etiological subtype],Alagille syndrome due to a NOTCH2 point mutation,"[Alagille-Watson syndrome due to a NOTCH2 point mutation, Arteriohepatic dysplasia due to a NOTCH2 point mutation, Syndromic bile duct paucity due to a NOTCH2 point mutation]",,[610205],,,,,,,, +GARD:17253,Active,Orphanet,ORPHA:261652,Subtype of disorder,[Etiological subtype],Kleefstra syndrome due to a point mutation,,,"[617768, 610253]",,,,,,,, +GARD:17254,Active,Orphanet,ORPHA:263297,Disorder,[Disease],Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,"[GSD type 15, GSD type XV, GSD with severe cardiomyopathy due to glycogenin deficiency, Glycogen storage disease type 15, Glycogen storage disease type XV, Glycogenosis type 15, Glycogenosis type XV, Glycogenosis with severe cardiomyopathy due to glycogenin deficiency]","Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.",[613507],,,,,,,, +GARD:17255,Active,Orphanet,ORPHA:263347,Disorder,[Disease],MRCS syndrome,[Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome],"MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.","[619082, 193220]",,,,,,,, +GARD:17256,Active,Orphanet,ORPHA:263458,Disorder,[Disease],Hyperinsulinism due to INSR deficiency,"[Hyperinsulinemic hypoglycemia due to INSR deficiency, Hyperinsulinemic hypoglycemia due to insulin receptor deficiency]","Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.",[609968],,,,,,,, +GARD:17257,Active,Orphanet,ORPHA:263524,Disorder,[Disease],Acute necrotizing encephalopathy of childhood,"[ANEC, Isolated ANE, Isolated acute necrotizing encephalopathy]","A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.",[614212],,,,,,,, +GARD:17258,Active,Orphanet,ORPHA:263548,Subtype of disorder,[Clinical subtype],Peeling skin syndrome type A,"[Generalized deciduous skin type A, Generalized peeling skin syndrome type A, Non-inflammatory generalized peeling skin syndrome type A., Non-inflammatory peeling skin syndrome type A, PSS type A]","Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin.","[616265, 618084]",,,,,,,, +GARD:17259,Active,Orphanet,ORPHA:263553,Subtype of disorder,[Clinical subtype],Peeling skin syndrome type B,"[Generalized deciduous skin type B, Generalized peeling skin syndrome type B, Inflammatory peeling skin syndrome, PSS type B]","Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.",[270300],,,,,,,, +GARD:17260,Active,Orphanet,ORPHA:263662,Disorder,[Disease],Familial multiple meningioma,,"Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.",[607174],,,,,,,, +GARD:17261,Active,Orphanet,ORPHA:264580,Disorder,[Disease],Glycogen storage disease due to liver phosphorylase kinase deficiency,"[GSD due to liver phosphorylase kinase deficiency, GSD type 9A, GSD type 9C, GSD type IXa, GSD type IXc, Glycogen storage disease type 9A, Glycogen storage disease type 9C, Glycogen storage disease type IXa, Glycogen storage disease type IXc, Glycogenosis due to liver phosphorylase kinase deficiency, Glycogenosis type 9A, Glycogenosis type 9C, Glycogenosis type IXa, Glycogenosis type IXc, XLG]","Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.","[613027, 306000]",,,,,,,, +GARD:17262,Active,Orphanet,ORPHA:268114,Disorder,[Disease],RAS-associated autoimmune leukoproliferative disease,[RALD],"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.",[614470],,,,,,,, +GARD:17263,Active,Orphanet,ORPHA:268145,Subtype of disorder,[Clinical subtype],Classic maple syrup urine disease,"[Classic BCKD deficiency, Classic MSUD, Classic branched-chain alpha-ketoacid dehydrogenase deficiency, Classic branched-chain ketoaciduria]","Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.",[248600],,,,,,,, +GARD:17264,Active,Orphanet,ORPHA:268162,Subtype of disorder,[Clinical subtype],Intermediate maple syrup urine disease,"[Intermediate BCKD deficiency, Intermediate MSUD, Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency]","Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.","[248600, 615135]",,,,,,,, +GARD:17265,Active,Orphanet,ORPHA:268173,Subtype of disorder,[Clinical subtype],Intermittent maple syrup urine disease,"[Intermittent BCKD deficiency, Intermittent MSUD, Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency]","Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.",[248600],,,,,,,, +GARD:17266,Active,Orphanet,ORPHA:268184,Subtype of disorder,[Clinical subtype],Thiamine-responsive maple syrup urine disease,"[Thiamine-responsive BCKD deficiency, Thiamine-responsive MSUD, Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency]",Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine.,[248600],,,,,,,, +GARD:17267,Active,Orphanet,ORPHA:268322,Disorder,[Disease],Hereditary thrombocytopenia with normal platelets,,"A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.","[273900, 612004, 313900, 188000]",,,,,,,, +GARD:17268,Active,Orphanet,ORPHA:268357,Group of disorders,[Category],Neural tube closure defect,,,"[601634, 301410, 182940]",,,,,,,, +GARD:17269,Active,Orphanet,ORPHA:268940,Disorder,[Morphological anomaly],Bilateral polymicrogyria,,"Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.","[615752, 606854, 612691, 616531, 300388]",,,,,,,, +GARD:1727,Active,Orphanet,ORPHA:3034,Disorder,[Malformation syndrome],Delayed membranous cranial ossification,[Gonzales-del Angel syndrome],"Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.",[155980],,,,,Delayed membranous cranial ossification,TRUE,FALSE,Active +GARD:17270,Active,Orphanet,ORPHA:269001,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type IIa,[FCD type IIa],,[607341],,,,,,,, +GARD:17271,Active,Orphanet,ORPHA:269008,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type IIb,[FCD type IIb],,[607341],,,,,,,, +GARD:17272,Active,Orphanet,ORPHA:269510,Subtype of disorder,[Clinical subtype],Congenital non-communicating hydrocephalus,[Congenital obstructive hydrocephalus],,[236600],,,,,,,, +GARD:17273,Active,Orphanet,ORPHA:275872,Disorder,[Disease],Frontotemporal dementia with motor neuron disease,"[FTD-ALS, FTD-MND, Frontotemporal dementia with amyotrophic lateral sclerosis]","Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.","[612069, 619133, 616439, 613954, 608030, 616437, 619141, 615911, 105550]",,,,,,,, +GARD:17274,Active,Orphanet,ORPHA:276148,Disorder,[Disease],Benign epithelial tumor of salivary glands,,"Benign epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction.",[181030],,,,,,,, +GARD:17275,Active,Orphanet,ORPHA:276152,Disorder,[Disease],Multiple endocrine neoplasia type 4,[MEN4],"Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.",[610755],,,,,,,, +GARD:17276,Active,Orphanet,ORPHA:276183,Disorder,[Disease],Spinocerebellar ataxia type 32,"[Cerebellar ataxia with azoospermia and intellectual disability, SCA32]",An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.,[613909],,,,,,,, +GARD:17277,Active,Orphanet,ORPHA:276234,Disorder,[Disease],Non-syndromic male infertility due to sperm motility disorder,[Non-syndromic male infertility due asthenozoospermia],"Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.","[618751, 606766, 618664, 618643, 618745, 617576, 617592, 618433, 612997, 618152, 617593, 618153, 617965, 618429, 614822, 618670]",,,,,,,, +GARD:17278,Active,Orphanet,ORPHA:276399,Disorder,[Disease],Familial multinodular goiter,"[FMNG, Familial MNG, Familial multinodular goiter syndrome]",,[138800],,,,,,,, +GARD:17279,Active,Orphanet,ORPHA:276405,Disorder,[Disease],Hyperbiliverdinemia,[Green jaundice],"Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.",[614156],,,,,,,, +GARD:17280,Active,Orphanet,ORPHA:276413,Disorder,[Malformation syndrome],10q22.3q23.3 microdeletion syndrome,"[Del(10)(q22.3q23.3), Deletion 10q22.3q23.3, Monosomy 10q22.3q23.3]","10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.",[612242],,,,,,,, +GARD:17281,Active,Orphanet,ORPHA:276432,Disorder,[Malformation syndrome],Ogden syndrome,[Premature aging appearance-developmental delay-cardiac arrhythmia syndrome],"Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.",[300855],,,,,,,, +GARD:17282,Active,Orphanet,ORPHA:276435,Disorder,[Disease],Lower motor neuron syndrome with late-adult onset,"[LOSMoN, Late-onset spinal motor neuronopathy, SMAJ, Spinal muscular atrophy, Jokela type]","A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.",[615048],,,,,,,, +GARD:17283,Active,Orphanet,ORPHA:276575,Disorder,[Disease],Autosomal dominant hyperinsulinism due to SUR1 deficiency,[Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency],"A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.",[256450],,,,,,,, +GARD:17284,Active,Orphanet,ORPHA:276580,Disorder,[Disease],Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,"[Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, Dominant KATP hyperinsulinism due to Kir6.2 deficiency]","A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).",[601820],,,,,,,, +GARD:17285,Active,Orphanet,ORPHA:276598,Disorder,[Disease],Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,"[Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form]","A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.",[256450],,,,,,,, +GARD:17286,Active,Orphanet,ORPHA:276603,Disorder,[Disease],Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,"[Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form]","A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.",[601820],,,,,,,, +GARD:17287,Active,Orphanet,ORPHA:279943,Disorder,[Disease],Hereditary neutrophilia,,"A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.",[162830],,,,,,,, +GARD:17288,Active,Orphanet,ORPHA:280142,Disorder,[Disease],Severe combined immunodeficiency due to LCK deficiency,"[SCID due to LCK deficiency, SCID due to lymphocyte-specific protein tyrosine kinase deficiency, Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency]","A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.",[615758],,,,,,,, +GARD:17289,Active,Orphanet,ORPHA:280195,Subtype of disorder,[Clinical subtype],Septopreoptic holoprosencephaly,[Septopreoptic HPE],"A rare subtype of holoprosencephaly characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. Midline craniofacial malformations are generally mild and include solitary median maxillary incisor and pyriform sinus stenosis. Other reported manifestations include language delay, learning difficulties, and behavioral disorders. Imaging reveals abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery.","[609637, 610829, 157170]",,,,,,,, +GARD:17290,Active,Orphanet,ORPHA:280200,Disorder,[Malformation syndrome],Microform holoprosencephaly,"[HPE, minor form, HPE-L, Holoprosencephaly, minor form, Holoprosencephaly-like, Microform HPE]","A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.","[609637, 610829, 147250, 157170]",,,,,,,, +GARD:17291,Active,Orphanet,ORPHA:280210,Subtype of disorder,[Clinical subtype],"Pelizaeus-Merzbacher disease, connatal form","[Connatal PMD, Pelizaeus-Merzbacher disease type II, Severe PMD]",The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term).,[312080],,,,,,,, +GARD:17292,Active,Orphanet,ORPHA:280234,Subtype of disorder,[Clinical subtype],Null syndrome,"[PLP1 null syndrome, Pelizaeus-Merzbacher disease, null syndrome]",The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.,[312080],,,,,,,, +GARD:17293,Active,Orphanet,ORPHA:280282,Subtype of disorder,[Clinical subtype],Pelizaeus-Merzbacher-like disease due to GJC2 mutation,[PMLD1],,[608804],,,,,,,, +GARD:17294,Active,Orphanet,ORPHA:280288,Subtype of disorder,[Clinical subtype],Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,[Mitochondrial HSP60 chaperonopathy],,[612233],,,,,,,, +GARD:17295,Active,Orphanet,ORPHA:280406,Disorder,[Disease],Familial steroid-resistant nephrotic syndrome with sensorineural deafness,[Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss],"Familial steroid-resistant nephrotic syndrome with sensorineural deafness is a rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.",[614650],,,,,,,, +GARD:17296,Active,Orphanet,ORPHA:280553,Disorder,[Disease],Fatal infantile hypertonic myofibrillar myopathy,,"Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.",[613869],,,,,,,, +GARD:17297,Active,Orphanet,ORPHA:280615,Disorder,[Disease],Hemoglobinopathy Toms River,[Transient neonatal cyanosis and anemia due to Toms River Hemoglobin],"Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.",[613977],,,,,,,, +GARD:17298,Active,Orphanet,ORPHA:280628,Disorder,[Disease],Familial progressive hyper- and hypopigmentation,[FPHH],"Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.",[145250],,,,,,,, +GARD:17299,Active,Orphanet,ORPHA:280640,Disorder,[Malformation syndrome],Occipital pachygyria and polymicrogyria,"[Occipital MCD, Occipital malformations of cortical development]","Occipital pachygyria and polymicrogyria is a rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.",[614115],,,,,,,, +GARD:173,Legacy,GARD,,,,,,,,,,,,"Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance",TRUE,FALSE,Active +GARD:17300,Active,Orphanet,ORPHA:280651,Disorder,[Disease],Acrodysostosis with multiple hormone resistance,,,"[614613, 101800]",,,,,,,, +GARD:17301,Active,Orphanet,ORPHA:280679,Disorder,[Disease],Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,[Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism],"Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.",[300845],,,,,,,, +GARD:17302,Active,Orphanet,ORPHA:281090,Disorder,[Disease],Syndromic recessive X-linked ichthyosis,"[Recessive X-linked ichthyosis with extracutaneous manifestations, Syndromic RXLI]",Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.,[308100],,,,,,,, +GARD:17303,Active,Orphanet,ORPHA:281122,Disorder,[Disease],Self-improving collodion baby,"[SHCB, SICI, Self-healing collodion baby, Self-improving congenital ichthyosis]",Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.,"[242300, 606545, 242100]",,,,,,,, +GARD:17304,Active,Orphanet,ORPHA:281139,Disorder,[Disease],Annular epidermolytic ichthyosis,[AEI],A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.,[607602],,,,,,,, +GARD:17305,Active,Orphanet,ORPHA:281190,Disorder,[Disease],Congenital reticular ichthyosiform erythroderma,"[CRIE, IWC, Ichthyosis variegata, Ichthyosis with confetti]",,[609165],,,,,,,, +GARD:17306,Active,Orphanet,ORPHA:281201,Disorder,[Disease],Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,[KLICK syndrome],"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.",[601952],,,,,,,, +GARD:17307,Active,Orphanet,ORPHA:282166,Disorder,[Disease],Inherited Creutzfeldt-Jakob disease,[Inherited CJD],"A rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.",[123400],,,,,,,, +GARD:17308,Active,Orphanet,ORPHA:284139,Disorder,[Malformation syndrome],"Larsen-like syndrome, B3GAT3 type",[Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome],"Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.",[245600],,,,,,,, +GARD:17309,Active,Orphanet,ORPHA:284149,Disorder,[Malformation syndrome],Craniosynostosis-dental anomalies,[Kreiborg-Pakistani syndrome],"Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.",[614188],,,,,,,, +GARD:17310,Active,Orphanet,ORPHA:284160,Disorder,[Malformation syndrome],8q21.11 microdeletion syndrome,"[Del(8)(q21.11), Deletion 8q21.11, Monosomy 8q21.11]","8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.",[614230],,,,,,,, +GARD:17311,Active,Orphanet,ORPHA:284169,Subtype of disorder,[Clinical subtype],Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,"[10p12p11 microdeletion syndrome, Del(10)(p11.21p12.31), Deletion 10p11.21p12.31, Monosomy 10p11.21p12.31]","Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion is a rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.",[616708],,,,,,,, +GARD:17312,Active,Orphanet,ORPHA:284271,Disorder,[Disease],Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,"[Autosomal recessive spinocerebellar ataxia type 11, SCAR11]","A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.",[614229],,,,,,,, +GARD:17313,Active,Orphanet,ORPHA:284282,Disorder,[Disease],Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,"[Autosomal recessive spinocerebellar ataxia type 12, SCAR12]","A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.",[614322],,,,,,,, +GARD:17314,Active,Orphanet,ORPHA:284289,Disorder,[Disease],Adult-onset autosomal recessive cerebellar ataxia,"[Autosomal recessive spinocerebellar ataxia type 10, SCAR10]","A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement.",[613728],,,,,,,, +GARD:17315,Active,Orphanet,ORPHA:284339,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 7,"[PCH7, Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome]","Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.",[614969],,,,,,,, +GARD:17316,Active,Orphanet,ORPHA:284411,Subtype of disorder,[Clinical subtype],"Glycerol kinase deficiency, juvenile form",,"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.",[307030],,,,,,,, +GARD:17317,Active,Orphanet,ORPHA:284414,Subtype of disorder,[Clinical subtype],"Glycerol kinase deficiency, adult form",,A rare form of glycerol kinase deficiency (GKD) characterized by pseudohypertriglyceridemia in otherwise healthy adults and diagnosed fortuitously.,[307030],,,,,,,, +GARD:17318,Active,Orphanet,ORPHA:284973,Subtype of disorder,[Clinical subtype],Marfan syndrome type 2,[MFS2],,[610168],,,,,,,, +GARD:17319,Active,Orphanet,ORPHA:289157,Disorder,[Disease],Hypocalcemic vitamin D-dependent rickets,"[1-alpha-hydroxylase deficiency, PDDRI, Pseudovitamin D-deficient rickets, VDDI, VDDR-I, Vitamin D dependent rickets type I, Vitamin D-dependency type I]","An early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.","[264700, 600081]",,,,,,,, +GARD:1732,Legacy,GARD,,,,,,,,,,,,Chromosome 11p deletion,TRUE,FALSE,Active +GARD:17320,Active,Orphanet,ORPHA:289176,Disorder,[Disease],Autosomal recessive hypophosphatemic rickets,[ARHR],"A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.","[241520, 613312]",,,,,,,, +GARD:17321,Active,Orphanet,ORPHA:289290,Disorder,[Disease],Hypermethioninemia encephalopathy due to adenosine kinase deficiency,"[ADK hypermethioninemia, Hypermethioninemia encephalopathy due to ADK deficiency]","Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.",[614300],,,,,,,, +GARD:17322,Active,Orphanet,ORPHA:289307,Disorder,[Disease],Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,"[Developmental delay due to ALDH6A1 deficiency, Developmental delay due to MMSDH deficiency]","Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.",[614105],,,,,,,, +GARD:17323,Active,Orphanet,ORPHA:289365,Disorder,[Malformation syndrome],Familial vesicoureteral reflux,[Familial VUR],"Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.","[614319, 615390, 610878, 193000, 613674, 614317, 614318, 615963]",,,,,,,, +GARD:17324,Active,Orphanet,ORPHA:289377,Disorder,[Disease],Early-onset myopathy with fatal cardiomyopathy,"[EOMFC, Salih myopathy]","A rare genetic neuromuscular disease characterized by neonatal or infancy onset of delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life.",[611705],,,,,,,, +GARD:17325,Active,Orphanet,ORPHA:289380,Disorder,[Disease],Myosclerosis,"[Congenital myosclerosis, Löwenthal type]","Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.",[255600],,,,,,,, +GARD:17326,Active,Orphanet,ORPHA:289483,Disorder,[Disease],Intellectual disability-alacrima-achalasia syndrome,,"Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.",[300858],,,,,,,, +GARD:17327,Active,Orphanet,ORPHA:289499,Disorder,[Malformation syndrome],Congenital cataract microcornea with corneal opacity,[CCMCO],,[269400],,,,,,,, +GARD:17328,Active,Orphanet,ORPHA:289553,Disorder,[Malformation syndrome],Dysmorphism-conductive hearing loss-heart defect syndrome,,"Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.",[615102],,,,,,,, +GARD:17329,Active,Orphanet,ORPHA:289586,Disorder,[Disease],Exfoliative ichthyosis,"[Autosomal recessive exfoliative ichthyosis, Ichthyosis exfoliativa]","Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.","[617115, 607936]",,,,,,,, +GARD:17330,Active,Orphanet,ORPHA:289846,Subtype of disorder,[Clinical subtype],Glutathione synthetase deficiency with 5-oxoprolinuria,,,[266130],,,,,,,, +GARD:17331,Active,Orphanet,ORPHA:289849,Subtype of disorder,[Clinical subtype],Glutathione synthetase deficiency without 5-oxoprolinuria,,,[231900],,,,,,,, +GARD:17332,Active,Orphanet,ORPHA:289857,Subtype of disorder,[Clinical subtype],Neonatal glycine encephalopathy,"[Classic glycine encephalopathy, Neonatal NKH, Neonatal non-ketotic hyperglycinemia]","Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.",[605899],,,,,,,, +GARD:17333,Active,Orphanet,ORPHA:289860,Subtype of disorder,[Clinical subtype],Infantile glycine encephalopathy,"[Infantile NKH, Infantile non-ketotic hyperglycinemia]","Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.",[605899],,,,,,,, +GARD:17334,Active,Orphanet,ORPHA:289863,Subtype of disorder,[Clinical subtype],Atypical glycine encephalopathy,"[Atypical NKA, Atypical non-ketotic hyperglycinemia]",A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy.,"[605899, 617301]",,,,,,,, +GARD:17335,Active,Orphanet,ORPHA:289916,Subtype of disorder,[Clinical subtype],Vitamin B12-unresponsive methylmalonic acidemia type mut0,"[Complete deficiency of methylmalonyl-CoA mutase, Vitamin B12-unresponsive methylmalonic aciduria type mut0]","Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.",[251000],,,,,,,, +GARD:17336,Active,Orphanet,ORPHA:293144,Subtype of disorder,[Etiological subtype],Familial clubfoot due to 5q31 microdeletion,[Hereditary clubfoot due to 5q31 microdeletion],,[119800],,,,,,,, +GARD:17337,Active,Orphanet,ORPHA:293150,Subtype of disorder,[Etiological subtype],Familial clubfoot due to PITX1 point mutation,[Hereditary clubfoot due to PITX1 point mutation],,[119800],,,,,,,, +GARD:17338,Active,Orphanet,ORPHA:293381,Disorder,[Disease],Epithelial recurrent erosion dystrophy,"[Dystrophia Helsinglandica, Dystrophia Smolandiensis, ERED, Recurrent hereditary corneal erosions]","Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.",[122400],,,,,,,, +GARD:17339,Active,Orphanet,ORPHA:293621,Disorder,[Disease],X-linked endothelial corneal dystrophy,[XECD],"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.",[300779],,,,,,,, +GARD:17340,Active,Orphanet,ORPHA:293633,Subtype of disorder,[Etiological subtype],PYCR1-related De Barsy syndrome,"[PYCR1 deficiency, Pyrroline-5-carboxylate reductase 1 deficiency]",,[614438],,,,,,,, +GARD:17341,Active,Orphanet,ORPHA:293707,Disorder,[Malformation syndrome],"Blepharophimosis-intellectual disability syndrome, MKB type","[BMRS, MKB type, BMRS, Maat-Kievit-Brunner type, Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type, X-linked Ohdo syndrome]","A rare, X-linked, syndromic, intellectual disability disorder affecting only boys and characterized by global development delay with little or no speech, urogenital abnormalities, including scrotal hypoplasia, micro penis, and cryptorchidism, autistic behavior, and facial dysmorphism. Most typical facial features are ptosis, blepharophimosis, a bulbous nasal tip, a long philtrum, and maxillar hypoplasia with full cheeks. Other variable features include microcephaly, hearing loss, dental anomalies, and hyperextensible joints.",[300895],,,,,,,, +GARD:17342,Active,Orphanet,ORPHA:293725,Disorder,[Malformation syndrome],"Blepharophimosis-intellectual disability syndrome, Verloes type","[BMRS type V, BMRS, Verloes type, Blepharophimosis-intellectual disability syndrome type V]","Blepharophimosis-intellectual disability syndrome, Verloes type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.",[604314],,,,,,,, +GARD:17343,Active,Orphanet,ORPHA:293822,Disorder,[Disease],MITF-related melanoma and renal cell carcinoma predisposition syndrome,,"MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.",[614456],,,,,,,, +GARD:17344,Active,Orphanet,ORPHA:293825,Disorder,[Disease],Congenital dyserythropoietic anemia type IV,"[CDA IV, CDA due to KLF1 mutation, CDA type 4, CDA type IV, CDAN4, Congenital dyserythropoietic anemia due to KLF1 mutation, Congenital dyserythropoietic anemia type 4]",Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.,[613673],,,,,,,, +GARD:17345,Active,Orphanet,ORPHA:293888,Subtype of disorder,[Clinical subtype],"Familial isolated arrhythmogenic ventricular dysplasia, left dominant form","[Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form]",,"[610193, 107970]",,,,,,,, +GARD:17346,Active,Orphanet,ORPHA:293899,Subtype of disorder,[Clinical subtype],"Familial isolated arrhythmogenic ventricular dysplasia, biventricular form","[Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form]",,"[610193, 107970]",,,,,,,, +GARD:17347,Active,Orphanet,ORPHA:293910,Subtype of disorder,[Clinical subtype],"Familial isolated arrhythmogenic ventricular dysplasia, right dominant form","[Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form, Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form, Familial isolated arrhythmogenic ventricular dysplasia, classic form]",,"[610193, 615616, 600996, 107970, 618920]",,,,,,,, +GARD:17348,Active,Orphanet,ORPHA:293925,Disorder,[Malformation syndrome],Lethal occipital encephalocele-skeletal dysplasia syndrome,,"Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.",[614416],,,,,,,, +GARD:17349,Active,Orphanet,ORPHA:293936,Disorder,[Disease],EDICT syndrome,"[Autosomal dominant keratoconus with early-onset anterior polar cataracts, Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome, Familial keratoconus with cataract, KTCNCT]","A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.",[614303],,,,,,,, +GARD:1735,Legacy,GARD,,,,,,,,,,,,Chromosome 11q deletion,TRUE,FALSE,Active +GARD:17350,Active,Orphanet,ORPHA:293939,Disorder,[Malformation syndrome],Distal Xq28 microduplication syndrome,"[Distal dup(X)q(28), Distal trisomy Xq28, Int22h1/Int22h2 mediated-Xq28 microduplication syndrome]","A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.",[300815],,,,,,,, +GARD:17351,Active,Orphanet,ORPHA:293958,Disorder,[Malformation syndrome],Hypertelorism-preauricular sinus-punctual pits-deafness syndrome,"[HPPD, Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome]","Hypertelorism-preauricular sinus-punctual pits-deafness syndrome is a rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.",[614187],,,,,,,, +GARD:17352,Active,Orphanet,ORPHA:293964,Disorder,[Disease],Hypoinsulinemic hypoglycemia and body hemihypertrophy,,"Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.",[240900],,,,,,,, +GARD:17353,Active,Orphanet,ORPHA:293978,Disorder,[Disease],Deficiency in anterior pituitary function-variable immunodeficiency syndrome,[DAVID syndrome],"Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.",[615577],,,,,,,, +GARD:17354,Active,Orphanet,ORPHA:294016,Disorder,[Malformation syndrome],Microcephaly-capillary malformation syndrome,"[MIC-CAP syndrome, MIC-CM syndrome, Microcephaly-cutaneous capillary malformation syndrome]","Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.",[614261],,,,,,,, +GARD:17355,Active,Orphanet,ORPHA:294023,Disorder,[Disease],Neonatal inflammatory skin and bowel disease,,"Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.","[616069, 614328]",,,,,,,, +GARD:17356,Active,Orphanet,ORPHA:294415,Disorder,[Malformation syndrome],Renal-hepatic-pancreatic dysplasia,"[Ivemark II syndrome, Renohepaticopancreatic dysplasia]","Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes.","[615415, 208540]",,,,,,,, +GARD:17357,Active,Orphanet,ORPHA:295187,Subtype of disorder,[Clinical subtype],Zygodactyly type 1,"[SD1, Weidenreich type, SD1a, Syndactyly type 1, Weidenreich type, Syndactyly type 1a, Zygodactyly, Weidenreich type]",,[609815],,,,,,,, +GARD:17358,Active,Orphanet,ORPHA:295195,Subtype of disorder,[Clinical subtype],Synpolydactyly type 1,"[SD2, Vordingborg type, SD2a, SPD, Vordingborg type, SPD1, Synpolydactyly, Vordingborg type]",,[186000],,,,,,,, +GARD:17359,Active,Orphanet,ORPHA:295197,Subtype of disorder,[Clinical subtype],Synpolydactyly type 2,"[SD2, Debeer type, SD2b, SPD, Debeer type, SPD2, Synpolydactyly, Debeer type]",,[608180],,,,,,,, +GARD:17360,Active,Orphanet,ORPHA:295199,Subtype of disorder,[Clinical subtype],Synpolydactyly type 3,"[SD2, Malik type, SD2c, SPD, Malik type, SPD3, Synpolydactyly, Malik type]",,[610234],,,,,,,, +GARD:17361,Active,Orphanet,ORPHA:300179,Subtype of disorder,[Clinical subtype],Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,"[Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness, Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss, FKBP14-related EDS, FKBP22-deficient EDS, Kyphoscoliotic EDS due to FKBP22 deficiency, kEDS-FKBP14]","A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.",[614557],,,,,,,, +GARD:17362,Active,Orphanet,ORPHA:300284,Disorder,[Disease],Connective tissue disorder due to lysyl hydroxylase-3 deficiency,"[Bone fragility-contractures-arterial rupture-deafness syndrome, Bone fragility-contractures-arterial rupture-hearing loss syndrome, Connective tissue disorder due to LH3 deficiency]","Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.",[612394],,,,,,,, +GARD:17363,Active,Orphanet,ORPHA:300293,Disorder,[Disease],Transient infantile hypertriglyceridemia and hepatosteatosis,[Transient infantile hypertriglyceridemia and fatty liver],"Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.",[614480],,,,,,,, +GARD:17364,Active,Orphanet,ORPHA:300298,Disorder,[Disease],Severe congenital hypochromic anemia with ringed sideroblasts,[Severe congenital hypochromic sideroblastic anemia],"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.",[615234],,,,,,,, +GARD:17365,Active,Orphanet,ORPHA:300313,Disorder,[Disease],Congenital cataract-hearing loss-severe developmental delay syndrome,"[Congenital cataract-deafness-severe developmental delay syndrome, Huppke-Brendel syndrome, Lethal neurodegenerative disorder due to copper transport defect]","Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.",[614482],,,,,,,, +GARD:17366,Active,Orphanet,ORPHA:300324,Disorder,[Disease],Persistent polyclonal B-cell lymphocytosis,"[PPBL, Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes]","Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.",[606445],,,,,,,, +GARD:17367,Active,Orphanet,ORPHA:300333,Disorder,[Disease],Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,"[EBS with nephropathy, Epidermolysis bullosa simplex with nephropathy, Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome]","A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.",[609057],,,,,,,, +GARD:17368,Active,Orphanet,ORPHA:300345,Disorder,[Disease],Autosomal systemic lupus erythematosus,"[Autosomal SLE, Familial SLE, Familial systemic lupus erythematosus]","Autosomal systemic lupus erythematosus is a rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.",[614420],,,,,,,, +GARD:17369,Active,Orphanet,ORPHA:300359,Disorder,[Disease],PLCG2-associated antibody deficiency and immune dysregulation,"[FACU, Familial atypical cold urticaria, Familial cold urticaria with common variable immunodeficiency, PLAID]","PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.",[614468],,,,,,,, +GARD:17370,Active,Orphanet,ORPHA:300373,Disorder,[Disease],X-linked acrogigantism,"[Familial infantile gigantism, Hereditary infantile gigantism, Hereditary pituitary hyperplasia, Infantile gigantism due to pituitary hyperplasia, X-LAG]","A rare, genetic pituitary disease characterized by infantile-onset, rapid and excessive acceleration of linear growth and body size due to mixed growth hormone (GH)- and prolactin-secreting adenomas and/or pituitary hyperplasia. Patients present with gigantism and may have associated acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, increased appetite and acanthosis nigricans.",[300942],,,,,,,, +GARD:17371,Active,Orphanet,ORPHA:300382,Disorder,[Disease],Progeroid and marfanoid aspect-lipodystrophy syndrome,,"Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.",[616914],,,,,,,, +GARD:17372,Active,Orphanet,ORPHA:300525,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2D,[PHA2D],,[614495],,,,,,,, +GARD:17373,Active,Orphanet,ORPHA:300530,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2E,[PHA2E],,[614496],,,,,,,, +GARD:17374,Active,Orphanet,ORPHA:300547,Disorder,[Disease],Autosomal recessive infantile hypercalcemia,[Familial infantile hypercalcemia with suppressed intact parathyroid hormone],"A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.","[143880, 616963]",,,,,,,, +GARD:17375,Active,Orphanet,ORPHA:300573,Disorder,[Malformation syndrome],Polymicrogyria due to TUBB2B mutation,,"A rare, genetic, complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).",[610031],,,,,,,, +GARD:17376,Active,Orphanet,ORPHA:300576,Disorder,[Disease],Oligodontia-cancer predisposition syndrome,[Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome],"Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.",[608615],,,,,,,, +GARD:17377,Active,Orphanet,ORPHA:306504,Disorder,[Disease],Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,"[ILNEB syndrome, JEB with interstitial lung disease and nephrotic syndrome, Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome]","A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.",[614748],,,,,,,, +GARD:17378,Active,Orphanet,ORPHA:306511,Disorder,[Disease],Autosomal recessive spastic paraplegia type 48,[SPG48],"A rare, pure or complex form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia, parkinsonism, and dystonia as well as thin corpus callosum and white matter lesions (seen on brain and spine magnetic resonance imaging), has also been reported.",[613647],,,,,,,, +GARD:17379,Active,Orphanet,ORPHA:306530,Disorder,[Morphological anomaly],Congenital hereditary facial paralysis-variable hearing loss syndrome,"[Congenital hereditary facial palsy with variable deafness, Congenital hereditary facial palsy with variable hearing loss, Congenital hereditary facial paralysis with variable deafness, Congenital hereditary facial paralysis-variable deafness syndrome]","Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.","[614744, 604185]",,,,,,,, +GARD:1738,Legacy,GARD,,,,,,,,,,,,Chromosome 13q deletion,TRUE,FALSE,Active +GARD:17380,Active,Orphanet,ORPHA:306547,Disorder,[Malformation syndrome],Porencephaly-microcephaly-bilateral congenital cataract syndrome,,"Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.",[613730],,,,,,,, +GARD:17381,Active,Orphanet,ORPHA:306558,Disorder,[Disease],Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,,"Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.","[619278, 614231]",,,,,,,, +GARD:17382,Active,Orphanet,ORPHA:306577,Disorder,[Disease],Sodium channelopathy-related small fiber neuropathy,,"Sodium channelopathy-related small fiber neuropathy is a rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve fiber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal.","[133020, 615551]",,,,,,,, +GARD:17383,Active,Orphanet,ORPHA:306734,Disorder,[Disease],"Primary dystonia, DYT21 type",[DYT21],"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.",[614588],,,,,,,, +GARD:17384,Active,Orphanet,ORPHA:307936,Disorder,[Disease],Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,"[HOPP syndrome, Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome, Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome, Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome]","Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.",[607658],,,,,,,, +GARD:17385,Active,Orphanet,ORPHA:308380,Subtype of disorder,[Clinical subtype],Methylcobalamin deficiency type cblDv1,[Functional methionine synthase deficiency type cblDv1],,[277410],,,,,,,, +GARD:17386,Active,Orphanet,ORPHA:308386,Subtype of disorder,[Etiological subtype],Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,"[Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A, MOCOD type A]",,[252150],,,,,,,, +GARD:17387,Active,Orphanet,ORPHA:308393,Subtype of disorder,[Etiological subtype],Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B,"[Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B, MOCOD type B]",,[252160],,,,,,,, +GARD:17388,Active,Orphanet,ORPHA:308400,Subtype of disorder,[Etiological subtype],Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,"[Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C, MOCOD type C]",,[615501],,,,,,,, +GARD:17389,Active,Orphanet,ORPHA:308410,Disorder,[Disease],Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,,"A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.",[614923],,,,,,,, +GARD:17390,Active,Orphanet,ORPHA:308425,Disorder,[Disease],Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,"[MCEE deficiency, Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency]","Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.",[251120],,,,,,,, +GARD:17391,Active,Orphanet,ORPHA:308442,Subtype of disorder,[Clinical subtype],"Vitamin B12-responsive methylmalonic acidemia, type cblDv2","[Vitamin B12-responsive methylmalonic aciduria, type cblDv2]",,[277410],,,,,,,, +GARD:17392,Active,Orphanet,ORPHA:308473,Subtype of disorder,[Clinical subtype],Erythrocyte galactose epimerase deficiency,"[Erythrocyte GALE deficiency, Erythrocyte GALE-D, Erythrocyte UDP-galactose-4-epimerase deficiency, Erythrocyte epimerase deficiency galactosemia, Erythrocyte uridine diphosphate galactose-4-epimerase deficiency]",,[230350],,,,,,,, +GARD:17393,Active,Orphanet,ORPHA:308487,Subtype of disorder,[Clinical subtype],Generalized galactose epimerase deficiency,"[Generalized GALE deficiency, Generalized GALE-D, Generalized UDP-galactose-4-epimerase deficiency, Generalized epimerase deficiency galactosemia, Generalized uridine diphosphate galactose-4-epimerase deficiency]",,[230350],,,,,,,, +GARD:17394,Active,Orphanet,ORPHA:308621,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form","[GBE deficiency, progressive hepatic form, GSD due to glycogen branching enzyme deficiency, progressive hepatic form, GSD type 4, progressive hepatic form, GSDIV, progressive hepatic form, Glycogen storage disease type 4, progressive hepatic form, Glycogen storage disease type IV, progressive hepatic form, Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form, Glycogenosis type 4, progressive hepatic form, Glycogenosis type IV, progressive hepatic form]",,[232500],,,,,,,, +GARD:17395,Active,Orphanet,ORPHA:308638,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form","[GBE deficiency, non progressive hepatic form, GSD due to glycogen branching enzyme deficiency, non progressive hepatic form, GSD type 4, non progressive hepatic form, GSDIV, non progressive hepatic form, Glycogen storage disease type 4, non progressive hepatic form, Glycogen storage disease type IV, non progressive hepatic form, Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form, Glycogenosis type 4, non progressive hepatic form, Glycogenosis type IV, non progressive hepatic form]",,[232500],,,,,,,, +GARD:17396,Active,Orphanet,ORPHA:308655,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","[GBE deficiency, fatal perinatal neuromuscular form, GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form, GSD type 4, fatal perinatal neuromuscular form, GSDIV, fatal perinatal neuromuscular form, Glycogen storage disease type 4, fatal perinatal neuromuscular form, Glycogen storage disease type IV, fatal perinatal neuromuscular form, Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form, Glycogenosis type 4, fatal perinatal neuromuscular form, Glycogenosis type IV, fatal perinatal neuromuscular form]",,[232500],,,,,,,, +GARD:17397,Active,Orphanet,ORPHA:308670,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form","[GBE deficiency, congenital neuromuscular form, GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form, GSD type 4, congenital neuromuscular form, GSDIV, congenital neuromuscular form, Glycogen storage disease type 4, congenital neuromuscular form, Glycogen storage disease type IV, congenital neuromuscular form, Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form, Glycogenosis type 4, congenital neuromuscular form, Glycogenosis type IV, congenital neuromuscular form]",,[232500],,,,,,,, +GARD:17398,Active,Orphanet,ORPHA:308684,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form","[GBE deficiency, childhood combined hepatic and myopathic form, GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form, GSD type 4, childhood combined hepatic and myopathic form, GSDIV, childhood combined hepatic and myopathic form, Glycogen storage disease type 4, childhood combined hepatic and myopathic form, Glycogen storage disease type IV, childhood combined hepatic and myopathic form, Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form, Glycogenosis type 4, childhood combined hepatic and myopathic form, Glycogenosis type IV, childhood combined hepatic and myopathic form]",,[232500],,,,,,,, +GARD:17399,Active,Orphanet,ORPHA:308698,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form","[GBE deficiency, childhood neuromuscular form, GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form, GSD type 4, childhood neuromuscular form, GSDIV, childhood neuromuscular form, Glycogen storage disease type 4, childhood neuromuscular form, Glycogen storage disease type IV, childhood neuromuscular form, Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form, Glycogenosis type 4, childhood neuromuscular form, Glycogenosis type IV, childhood neuromuscular form]",,[232500],,,,,,,, +GARD:174,Legacy,GARD,,,,,,,,,,,,Kuzniecky Andermann syndrome,TRUE,FALSE,Active +GARD:17400,Active,Orphanet,ORPHA:308712,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form","[GBE deficiency, adult neuromuscular form, GSD due to glycogen branching enzyme deficiency, adult neuromuscular form, GSD type 4, adult neuromuscular form, GSDIV, adult neuromuscular form, Glycogen storage disease type 4, adult neuromuscular form, Glycogen storage disease type IV, adult neuromuscular form, Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form, Glycogenosis type 4, adult neuromuscular form, Glycogenosis type IV, adult neuromuscular form]",,[232500],,,,,,,, +GARD:17401,Active,Orphanet,ORPHA:309031,Disorder,[Disease],Pancreatic triacylglycerol lipase deficiency,[Pancreatic triglyceride lipase deficiency],"A rare genetic disorder of lipid metabolism characterized by neonatal to childhood onset of impaired absorption of dietary fat with greasy/oily and voluminous stools, but normal growth and development. Decreased levels of fecal elastase, as well as low serum levels of the fat-soluble vitamins A, D, and E, have been reported.",[614338],,,,,,,, +GARD:17402,Active,Orphanet,ORPHA:309108,Disorder,[Disease],Pancreatic colipase deficiency,,"A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no further descriptions in the literature since 1982.",[614338],,,,,,,, +GARD:17403,Active,Orphanet,ORPHA:309111,Disorder,[Disease],Combined pancreatic lipase-colipase deficiency,,"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.",[614338],,,,,,,, +GARD:17404,Active,Orphanet,ORPHA:309162,Subtype of disorder,[Clinical subtype],"Sandhoff disease, juvenile form","[Hexosaminidases A and B deficiency, juvenile form, Juvenile GM2 gangliosidosis 0 variant]",,[268800],,,,,,,, +GARD:17405,Active,Orphanet,ORPHA:309169,Subtype of disorder,[Clinical subtype],"Sandhoff disease, adult form","[Adult GM2 gangliosidosis 0 variant, Hexosaminidases A and B deficiency, adult form]",,[268800],,,,,,,, +GARD:17406,Active,Orphanet,ORPHA:309246,Disorder,[Disease],"GM2 gangliosidosis, AB variant",[Hexosaminidase activator deficiency],"GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.",[272750],,,,,,,, +GARD:17407,Active,Orphanet,ORPHA:309282,Subtype of disorder,[Clinical subtype],"Alpha-mannosidosis, infantile form","[Lysosomal alpha-D-mannosidase deficiency, infantile form]",,[248500],,,,,,,, +GARD:17408,Active,Orphanet,ORPHA:309288,Subtype of disorder,[Clinical subtype],"Alpha-mannosidosis, adult form","[Lysosomal alpha-D-mannosidase deficiency, adult form]",,[248500],,,,,,,, +GARD:17409,Active,Orphanet,ORPHA:313772,Disorder,[Disease],Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,"[AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome, Autosomal recessive spastic ataxia type 5, SPAX5]","Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.",[614487],,,,,,,, +GARD:17410,Active,Orphanet,ORPHA:313795,Disorder,[Malformation syndrome],Jawad syndrome,,"Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.",[251255],,,,,,,, +GARD:17411,Active,Orphanet,ORPHA:313800,Disorder,[Disease],Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,"[Optic nerve edema-splenomegaly syndrome, ROSAH syndrome]","A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.",[614979],,,,,,,, +GARD:17412,Active,Orphanet,ORPHA:313838,Disorder,[Disease],Coats plus syndrome,"[CRMCC, Cerebroretinal microangiopathy with calcifications and cysts]","Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.","[612199, 617341]",,,,,,,, +GARD:17413,Active,Orphanet,ORPHA:313846,Disorder,[Disease],Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,,"Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome is a rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.",[614564],,,,,,,, +GARD:17414,Active,Orphanet,ORPHA:313884,Subtype of disorder,[Clinical subtype],12p12.1 microdeletion syndrome,"[Del(12)(p12.1), Monosomy 12p12.1]","12p12.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized by intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations.",[616803],,,,,,,, +GARD:17415,Active,Orphanet,ORPHA:313892,Subtype of disorder,[Clinical subtype],Developmental and speech delay due to SOX5 deficiency,,"Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).",[616803],,,,,,,, +GARD:17416,Active,Orphanet,ORPHA:314022,Disorder,[Disease],Gastric adenocarcinoma and proximal polyposis of the stomach,"[Familial fundic gland polyposis with gastric cancer, GAPPS]","Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis.",[619182],,,,,,,, +GARD:17417,Active,Orphanet,ORPHA:314373,Disorder,[Disease],Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,,"A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated.",[614616],,,,,,,, +GARD:17418,Active,Orphanet,ORPHA:314376,Disorder,[Disease],Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,[Meconium ileus due to guanylate cyclase 2C deficiency],"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis (see this term) including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.",[614665],,,,,,,, +GARD:17419,Active,Orphanet,ORPHA:314394,Disorder,[Disease],Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,[SOFT syndrome],"Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.",[614813],,,,,,,, +GARD:17420,Active,Orphanet,ORPHA:314399,Disorder,[Disease],Autosomal dominant aplasia and myelodysplasia,[Autosomal dominant aplastic anemia and myelodysplasia],"A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.",[614675],,,,,,,, +GARD:17421,Active,Orphanet,ORPHA:314485,Disorder,[Disease],Young adult-onset distal hereditary motor neuropathy,"[Autosomal recessive distal spinal muscular atrophy type 5, Young adult-onset dHMN, dSMA5]","Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.","[619216, 614881]",,,,,,,, +GARD:17422,Active,Orphanet,ORPHA:314555,Disorder,[Malformation syndrome],Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,[Hamamy syndrome],"A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.",[611174],,,,,,,, +GARD:17423,Active,Orphanet,ORPHA:314585,Disorder,[Malformation syndrome],15q overgrowth syndrome,,"A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.",[614846],,,,,,,, +GARD:17424,Active,Orphanet,ORPHA:314588,Subtype of disorder,[Etiological subtype],Distal tetrasomy 15q,"[Tetrasomy 15(q25-qter), Tetrasomy 15q26]",,[614846],,,,,,,, +GARD:17425,Active,Orphanet,ORPHA:314603,Disorder,[Disease],Autosomal recessive spastic ataxia with leukoencephalopathy,"[ARSAL, Autosomal recessive spastic ataxia type 3, SPAX3]","A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy.",[611390],,,,,,,, +GARD:17426,Active,Orphanet,ORPHA:314629,Subtype of disorder,[Etiological subtype],CLN11 disease,,,[614706],,,,,,,, +GARD:17427,Active,Orphanet,ORPHA:314632,Disorder,[Disease],ATP13A2-related juvenile neuronal ceroid lipofuscinosis,"[CLN12 disease, Juvenile parkinsonism-neuronal ceroid lipofuscinosis]","A rare neuronal ceroid lipofiscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon post mortem.",[606693],,,,,,,, +GARD:17428,Active,Orphanet,ORPHA:314637,Disorder,[Disease],Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,"[COXPD10, Combined oxidative phosphorylation defect type 10]","A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.",[614702],,,,,,,, +GARD:17429,Active,Orphanet,ORPHA:314647,Disorder,[Disease],Non-progressive cerebellar ataxia with intellectual disability,,"A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).",[614756],,,,,,,, +GARD:17430,Active,Orphanet,ORPHA:314689,Disorder,[Disease],Combined immunodeficiency due to STK4 deficiency,[CID due to STK4 deficiency],"A rare, genetic, combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).",[614868],,,,,,,, +GARD:17431,Active,Orphanet,ORPHA:314701,Subtype of disorder,[Clinical subtype],Primary systemic amyloidosis,[Systemic AL amyloidosis],,[254500],,,,,,,, +GARD:17432,Active,Orphanet,ORPHA:314718,Disorder,[Disease],Lethal arteriopathy syndrome due to fibulin-4 deficiency,,"Lethal arteriopathy syndrome due to fibulin-4 deficiency is a rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.",[614437],,,,,,,, +GARD:17433,Active,Orphanet,ORPHA:314721,Subtype of disorder,[Clinical subtype],Atypical dentin dysplasia due to SMOC2 deficiency,[Dentin dysplasia type 1 with microdontia and shape anomalies],"A rare, genetic, dentin dysplasia disease characterized by extreme microdontia, oligodontia, and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp), enamel hypoplasia and anterior open bite may also be associated.",[125400],,,,,,,, +GARD:17434,Active,Orphanet,ORPHA:314795,Disorder,[Disease],SHOX-related short stature,,"SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.",[300582],,,,,,,, +GARD:17435,Active,Orphanet,ORPHA:314802,Disorder,[Disease],Short stature due to partial GHR deficiency,[Short stature due to partial growth hormone receptor deficiency],"Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.",[604271],,,,,,,, +GARD:17436,Active,Orphanet,ORPHA:314811,Disorder,[Disease],Short stature due to GHSR deficiency,"[Ghrelin receptor deficiency, Short stature due to growth hormone secretagogue receptor deficiency]","Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.",[615925],,,,,,,, +GARD:17437,Active,Orphanet,ORPHA:314911,Subtype of disorder,[Clinical subtype],Severe Canavan disease,"[Infantile Canavan disease, Neonatal Canavan disease]","Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.",[271900],,,,,,,, +GARD:17438,Active,Orphanet,ORPHA:314918,Subtype of disorder,[Clinical subtype],Mild Canavan disease,[Juvenile Canavan disease],Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.,[271900],,,,,,,, +GARD:17439,Active,Orphanet,ORPHA:314978,Disorder,[Disease],X-linked non progressive cerebellar ataxia,,"X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.",[300703],,,,,,,, +GARD:17440,Active,Orphanet,ORPHA:314993,Disorder,[Malformation syndrome],Cataract-congenital heart disease-neural tube defect syndrome,,"Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.",[608227],,,,,,,, +GARD:17441,Active,Orphanet,ORPHA:317425,Disorder,[Disease],Severe combined immunodeficiency due to DNA-PKcs deficiency,[SCID due to DNA-PKcs deficiency],"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.",[615966],,,,,,,, +GARD:17442,Active,Orphanet,ORPHA:317473,Disorder,[Disease],Pancytopenia due to IKZF1 mutations,"[CID due to IKAROS deficiency, Combined immunodeficiency due to IKAROS deficiency]","A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.",[616873],,,,,,,, +GARD:17443,Active,Orphanet,ORPHA:319160,Disorder,[Disease],Congenital myopathy with internal nuclei and atypical cores,"[CNM4, Centronuclear myopathy type 4]","Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.",[614807],,,,,,,, +GARD:17444,Active,Orphanet,ORPHA:319189,Disorder,[Disease],Familial cortical myoclonus,,"Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.",[614937],,,,,,,, +GARD:17445,Active,Orphanet,ORPHA:319199,Disorder,[Disease],Autosomal recessive spastic paraplegia type 53,[SPG53],"Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.",[614898],,,,,,,, +GARD:17446,Active,Orphanet,ORPHA:319308,Disorder,[Disease],MiT family translocation renal cell carcinoma,"[Carcinoma associated with MITF/TFE translocation, Translocation renal cell carcinoma]","MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.",[300854],,,,,,,, +GARD:17447,Active,Orphanet,ORPHA:319332,Disorder,[Disease],Autosomal recessive myogenic arthrogryposis multiplex congenita,"[Autosomal recessive myogenic AMC, SYNE1-related AMC, SYNE1-related arthrogryposis multiplex congenita]","Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.",[618484],,,,,,,, +GARD:17448,Active,Orphanet,ORPHA:319340,Disorder,[Disease],Carney complex-trismus-pseudocamptodactyly syndrome,[Carney complex variant],"Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).",[608837],,,,,,,, +GARD:17449,Active,Orphanet,ORPHA:319462,Disorder,[Disease],Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations,,"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.",[605724],,,,,,,, +GARD:17450,Active,Orphanet,ORPHA:319465,Disorder,[Disease],Inherited acute myeloid leukemia,"[Familial AML, Inherited AML, Pure familial AML, Pure familial acute myeloid leukemia]","Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.",[601626],,,,,,,, +GARD:17451,Active,Orphanet,ORPHA:319480,Disorder,[Disease],Acute myeloid leukemia with CEBPA somatic mutations,[AML with CEBPA somatic mutations],"A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).",[601626],,,,,,,, +GARD:17452,Active,Orphanet,ORPHA:319504,Disorder,[Disease],Combined oxidative phosphorylation defect type 8,[COXPD8],"Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.",[614096],,,,,,,, +GARD:17453,Active,Orphanet,ORPHA:319509,Disorder,[Disease],Combined oxidative phosphorylation defect type 9,[COXPD9],"Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.",[614582],,,,,,,, +GARD:17454,Active,Orphanet,ORPHA:319514,Disorder,[Disease],Combined oxidative phosphorylation defect type 13,[COXPD13],"Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.",[614932],,,,,,,, +GARD:17455,Active,Orphanet,ORPHA:319519,Disorder,[Disease],Combined oxidative phosphorylation defect type 14,[COXPD14],"Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.",[614946],,,,,,,, +GARD:17456,Active,Orphanet,ORPHA:319524,Disorder,[Disease],Combined oxidative phosphorylation defect type 15,[COXPD15],"Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.",[614947],,,,,,,, +GARD:17457,Active,Orphanet,ORPHA:319547,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,"[MSMD due to complete IFNgammaR2 deficiency, MSMD due to complete interferon gamma receptor 2 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency]","Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[614889],,,,,,,, +GARD:17458,Active,Orphanet,ORPHA:319563,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,[MSMD due to complete ISG15 deficiency],Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections.,[616126],,,,,,,, +GARD:17459,Active,Orphanet,ORPHA:319569,Disorder,[Disease],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,"[Autosomal recessive MSMD due to partial IFNgammaR1 deficiency, Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency]","A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[209950],,,,,,,, +GARD:1746,Legacy,GARD,,,,,,,,,,,,Chromosome 15q deletion,TRUE,FALSE,Active +GARD:17460,Active,Orphanet,ORPHA:319574,Disorder,[Disease],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,"[Autosomal recessive MSMD due to partial IFNgammaR2 deficiency, Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency]","Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[614889],,,,,,,, +GARD:17461,Active,Orphanet,ORPHA:319581,Disorder,[Disease],Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,"[Autosomal dominant MSMD due to partial IFNgammaR1 deficiency, Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency]","A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[615978],,,,,,,, +GARD:17462,Active,Orphanet,ORPHA:319595,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,"[MSMD due to partial STAT1 deficiency, MSMD due to partial signal transducer and activator of transcription 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency]","Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.",[614892],,,,,,,, +GARD:17463,Active,Orphanet,ORPHA:319600,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,"[MSMD due to partial IRF8 deficiency, MSMD due to partial interferon regulatory factor 8 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency]",Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..,[614893],,,,,,,, +GARD:17464,Active,Orphanet,ORPHA:319605,Disorder,[Disease],X-linked mendelian susceptibility to mycobacterial diseases,[X-linked MSMD],"X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD; see this term) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.","[300636, 300645]",,,,,,,, +GARD:17465,Active,Orphanet,ORPHA:319623,Subtype of disorder,[Etiological subtype],X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency,[X-linked MSMD due to CYBB deficiency],,[300645],,,,,,,, +GARD:17466,Active,Orphanet,ORPHA:319635,Disorder,[Disease],Amyloidosis cutis dyschromia,[Amyloidosis cutis dyschromica],"A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.",[617920],,,,,,,, +GARD:17467,Active,Orphanet,ORPHA:319640,Disorder,[Disease],Retinal macular dystrophy type 2,[MCDR2],"Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.",[608051],,,,,,,, +GARD:17468,Active,Orphanet,ORPHA:319671,Disorder,[Malformation syndrome],Alazami syndrome,"[Microcephalic primordial dwarfism, Alazami type]","A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).",[615071],,,,,,,, +GARD:17469,Active,Orphanet,ORPHA:319675,Disorder,[Malformation syndrome],"Microcephalic primordial dwarfism, Dauber type",,"Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.",[614851],,,,,,,, +GARD:17470,Active,Orphanet,ORPHA:319678,Disorder,[Disease],Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,,"Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.",[614654],,,,,,,, +GARD:17471,Active,Orphanet,ORPHA:320355,Disorder,[Disease],Autosomal dominant spastic paraplegia type 41,[SPG41],"A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.",[613364],,,,,,,, +GARD:17472,Active,Orphanet,ORPHA:320365,Disorder,[Disease],Autosomal dominant spastic paraplegia type 36,[SPG36],"A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.",[613096],,,,,,,, +GARD:17473,Active,Orphanet,ORPHA:320370,Disorder,[Disease],Autosomal recessive spastic paraplegia type 43,[SPG43],"Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.",[615043],,,,,,,, +GARD:17474,Active,Orphanet,ORPHA:320375,Disorder,[Disease],Autosomal recessive spastic paraplegia type 55,[SPG55],"Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.",[615035],,,,,,,, +GARD:17475,Active,Orphanet,ORPHA:320380,Disorder,[Disease],Autosomal recessive spastic paraplegia type 54,[SPG54],"Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.",[615033],,,,,,,, +GARD:17476,Active,Orphanet,ORPHA:320391,Disorder,[Disease],Autosomal recessive spastic paraplegia type 46,[SPG46],"Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.",[614409],,,,,,,, +GARD:17477,Active,Orphanet,ORPHA:320396,Disorder,[Disease],Autosomal recessive spastic paraplegia type 45,"[Autosomal recessive spastic paraplegia type 65, SPG45, SPG65]","Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.",[613162],,,,,,,, +GARD:17478,Active,Orphanet,ORPHA:320401,Disorder,[Disease],Autosomal recessive spastic paraplegia type 44,[SPG44],"Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.",[613206],,,,,,,, +GARD:17479,Active,Orphanet,ORPHA:320406,Disorder,[Disease],Spastic paraplegia-optic atrophy-neuropathy syndrome,[SPOAN],"A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis.",[609541],,,,,,,, +GARD:17480,Active,Orphanet,ORPHA:320411,Disorder,[Disease],Autosomal recessive spastic paraplegia type 56,[SPG56],"A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated.",[615030],,,,,,,, +GARD:17481,Active,Orphanet,ORPHA:324262,Subtype of disorder,[Clinical subtype],Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,"[Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency, Autosomal recessive spinocerebellar ataxia type 13, SCAR13]","A rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.",[614831],,,,,,,, +GARD:17482,Active,Orphanet,ORPHA:324290,Disorder,[Disease],Early-onset Lafora body disease,,"A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies.",[616640],,,,,,,, +GARD:17483,Active,Orphanet,ORPHA:324294,Disorder,[Disease],T-cell immunodeficiency with epidermodysplasia verruciformis,[T-cell immunodeficiency due to RHOH deficiency],"A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.",[618307],,,,,,,, +GARD:17484,Active,Orphanet,ORPHA:324321,Disorder,[Disease],Sinoatrial node dysfunction and deafness,[Sinoatrial node dysfunction and hearing loss],"Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.",[614896],,,,,,,, +GARD:17485,Active,Orphanet,ORPHA:324410,Disorder,[Disease],X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,,"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.",[300886],,,,,,,, +GARD:17486,Active,Orphanet,ORPHA:324530,Disorder,[Disease],Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,[APLAID],"A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.",[614878],,,,,,,, +GARD:17487,Active,Orphanet,ORPHA:324535,Disorder,[Disease],Combined oxidative phosphorylation defect type 11,[COXPD11],"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss, and renal disease. Additional, variably observed, clinical features include intellectual disability, seizures, and cardiomyopathy.",[614922],,,,,,,, +GARD:17488,Active,Orphanet,ORPHA:324569,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 8,"[PCH8, Pontocerebellar hypoplasia due to CHMP1A mutation]","Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.",[614961],,,,,,,, +GARD:17489,Active,Orphanet,ORPHA:324703,Subtype of disorder,[Clinical subtype],ABetaL34V amyloidosis,"[ABeta amyloidosis, Piedmont type, ABetaL34V-related amyloidosis, HCHWA, Piedmont type, Hereditary cerebral hemorrhage with amyloidosis, Piedmont type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17490,Active,Orphanet,ORPHA:324708,Subtype of disorder,[Clinical subtype],"ABeta amyloidosis, Iowa type","[ABetaD23N amyloidosis, HCHWA, Iowa type, Hereditary cerebral hemorrhage with amyloidosis, Iowa type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes, and lobar intracerebral hemorrhages. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17491,Active,Orphanet,ORPHA:324713,Subtype of disorder,[Clinical subtype],"ABeta amyloidosis, Italian type","[ABetaE22K amyloidosis, HCHWA, Italian type, Hereditary cerebral hemorrhage with amyloidosis, Italian type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17492,Active,Orphanet,ORPHA:324718,Subtype of disorder,[Clinical subtype],ABetaA21G amyloidosis,"[ABeta amyloidosis, Flemish type, ABetaA21G-related amyloidosis, HCHWA, Flemish type, Hereditary cerebral hemorrhage with amyloidosis, Flemish type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia, and lobar intracerebral hemorrhage in some patients. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17493,Active,Orphanet,ORPHA:324723,Subtype of disorder,[Clinical subtype],"ABeta amyloidosis, Arctic type","[ABetaE22G amyloidosis, HCHWA, Arctic type, Hereditary cerebral hemorrhage with amyloidosis, Arctic type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 54-61 years, progressive Alzheimer's disease-like dementia, and absence of intracerebral hemorrhages. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17494,Active,Orphanet,ORPHA:329173,Disorder,[Disease],Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,,"A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.",[615895],,,,,,,, +GARD:17495,Active,Orphanet,ORPHA:329191,Disorder,[Disease],Tall stature-long halluces-multiple extra-epiphyses syndrome,[Tall stature-scoliosis-macrodactyly of the halluces syndrome],"Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.",[615923],,,,,,,, +GARD:17496,Active,Orphanet,ORPHA:329195,Disorder,[Disease],Developmental delay with autism spectrum disorder and gait instability,[Developmental delay with ASD and gait instability],"Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.",[615516],,,,,,,, +GARD:17497,Active,Orphanet,ORPHA:329211,Disorder,[Disease],Autosomal dominant neovascular inflammatory vitreoretinopathy,[ADNIV],"A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.",[193235],,,,,,,, +GARD:17498,Active,Orphanet,ORPHA:329228,Disorder,[Malformation syndrome],Microcephalic primordial dwarfism due to ZNF335 deficiency,"[Microcephalic primordial dwarfism, Walsh type]","Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.",[615095],,,,,,,, +GARD:17499,Active,Orphanet,ORPHA:329235,Disorder,[Disease],X-linked central congenital hypothyroidism with late-onset testicular enlargement,"[IGSF1 deficiency syndrome, X-linked central congenital hypothyroidism with late-onset macroorchidism]","X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.",[300888],,,,,,,, +GARD:175,Active,Orphanet,ORPHA:309324,Subtype of disorder,[Clinical subtype],"Free sialic acid storage disease, infantile form",[ISSD],,[269920],,,,,Infantile free sialic acid storage disease,TRUE,FALSE,Active +GARD:17500,Active,Orphanet,ORPHA:329242,Disorder,[Disease],Congenital chronic diarrhea with protein-losing enteropathy,[Congenital chronic diarrhea with exudative enteropathy],"Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.","[618183, 615863]",,,,,,,, +GARD:17501,Active,Orphanet,ORPHA:329314,Disorder,[Disease],Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,[Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency],"An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.",[617070],,,,,,,, +GARD:17502,Active,Orphanet,ORPHA:329332,Disorder,[Malformation syndrome],Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,[Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome],"Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.",[614407],,,,,,,, +GARD:17503,Active,Orphanet,ORPHA:329336,Disorder,[Disease],Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,[Adult-onset CPEO with mitochondrial myopathy],"A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.",[616479],,,,,,,, +GARD:17504,Active,Orphanet,ORPHA:329481,Disorder,[Disease],Lipoprotein glomerulopathy,[LPG],"A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed.",[611771],,,,,,,, +GARD:17505,Active,Orphanet,ORPHA:329802,Disorder,[Malformation syndrome],5p13 microduplication syndrome,"[Dup(5)(p13), Trisomy 5p13]","A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).",[613174],,,,,,,, +GARD:17506,Active,Orphanet,ORPHA:329903,Subtype of disorder,[Clinical subtype],Immunoglobulin-mediated membranoproliferative glomerulonephritis,"[Ig-mediated MPGN, Ig-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated MPGN]","A primary form of membranoproliferative glomerulonephritis (MPGN) characterized by deposition in the renal glomeruli of immunoglobulin with complement fractions, especially C3. Clinical presentation may range from nephrotic syndrome and acute kidney injury to asymptomatic proteinuria and hematuria.",[615008],,,,,,,, +GARD:17507,Active,Orphanet,ORPHA:329918,Subtype of disorder,[Clinical subtype],C3 glomerulopathy,"[Non-Ig-mediated MPGN, Non-Ig-mediated membranoproliferative glomerulonephritis, Non-immunoglobulin-mediated MPGN, Non-immunoglobulin-mediated membranoproliferative glomerulonephritis]","A form of primary membranoproliferative glomerulonephritis characterized by the presence in renal biopsy samples of a glomerulonephritis with sole (or at least dominant) glomerular immunofluorescence staining for C3. Non-specific alterations or proliferative patterns with C3-dominant glomerular staining are also possible. Based upon electron microscopic findings, C3 glomerulopathy (C3G) may be further classified as C3 glomerulonephritis (C3GN) or Dense deposit disease (DDD).","[609814, 614809]",,,,,,,, +GARD:17508,Active,Orphanet,ORPHA:329971,Subtype of disorder,[Clinical subtype],Generalized juvenile polyposis/juvenile polyposis coli,,,"[175050, 174900]",,,,,,,, +GARD:17509,Active,Orphanet,ORPHA:330050,Subtype of disorder,[Etiological subtype],DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,,,[614388],,,,,,,, +GARD:17510,Active,Orphanet,ORPHA:330061,Disorder,[Disease],Actinic prurigo,"[Familial polymorphous light eruption of American Indians, Hereditary polymorphous light eruption of American Indians, Hutchinson summer prurigo, Hydroa aestivale]","A rare, chronic, photodermatosis disease characterized by intensely pruritic, polymorphic, erythematous, excoriated and/or lichenified papules, macules, plaques and nodules, occurring on sun-exposed areas of the skin (particularly face, nose, lips, and ears), frequently associating cheilitis (especially of the lower lip) and conjuctivitis, which are present year-round or only in the spring/summer (depending on geographic location), observed mainly in Native Americans and Mestizos. Cheilitis may be the sole clinical presentation. Histologically, the presence of lymphoid follicles in mucosa is pathognomonic.",[174770],,,,,,,, +GARD:17511,Active,Orphanet,ORPHA:331176,Disorder,[Disease],Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency,"[SCN4, Severe congenital neutropenia type 4, Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome]","Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.",[612541],,,,,,,, +GARD:17512,Active,Orphanet,ORPHA:331187,Disorder,[Disease],Immunodeficiency due to MASP-2 deficiency,,"Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.",[613791],,,,,,,, +GARD:17513,Active,Orphanet,ORPHA:331190,Disorder,[Disease],Immunodeficiency due to ficolin3 deficiency,,"Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.",[613860],,,,,,,, +GARD:17514,Active,Orphanet,ORPHA:331226,Disorder,[Disease],Susceptibility to infection due to TYK2 deficiency,[Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency],"Susceptibility to infection due to TYK2 deficiency is a rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.",[611521],,,,,,,, +GARD:17515,Active,Orphanet,ORPHA:352333,Disorder,[Disease],Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,"[Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome, ELOVL4-related neuro ichthyosis]","A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.",[614457],,,,,,,, +GARD:17516,Active,Orphanet,ORPHA:352403,Disorder,[Disease],Spectrin-associated autosomal recessive cerebellar ataxia,"[Ataxie spinocérébelleuse à début infantile avec retard psychomoteur, Autosomal recessive spinocerebellar ataxia type 14, Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome, SCAR14, SPARCA, SPARCA1, Spectrin-associated autosomal recessive cerebellar ataxia type 1]","Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).",[615386],,,,,,,, +GARD:17517,Active,Orphanet,ORPHA:352447,Disorder,[Disease],Progressive external ophthalmoplegia-myopathy-emaciation syndrome,"[Mitochondrial DNA maintenance syndrome due to MGME1 deficiency, PEO-myopathy-emaciation syndrome, mtDNA maintenance syndrome due to MGME1 deficiency]","Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.",[615084],,,,,,,, +GARD:17518,Active,Orphanet,ORPHA:352470,Disorder,[Disease],DNA2-related mitochondrial DNA deletion syndrome,"[Mitochondrial DNA deletion syndrome with limb-girdle weakness, Mitochondrial DNA deletion syndrome with progressive myopathy, mtDNA deletion syndrome with limb-girdle weakness, mtDNA deletion syndrome with progressive myopathy]","A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.",[615156],,,,,,,, +GARD:17519,Active,Orphanet,ORPHA:352479,Disorder,[Disease],ISPD-related limb-girdle muscular dystrophy R20,"[Autosomal recessive limb-girdle muscular dystrophy type 2U, ISPD-related LGMD R20, LGMD type 2U, LGMD2U, Limb-girdle muscular dystrophy type 2U]","A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.",[616052],,,,,,,, +GARD:17520,Active,Orphanet,ORPHA:352490,Disorder,[Disease],Autism spectrum disorder due to AUTS2 deficiency,"[ASD due to AUTS2 deficiency, AUTS2 syndrome]","A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.",[615834],,,,,,,, +GARD:17521,Active,Orphanet,ORPHA:352582,Disorder,[Disease],Familial infantile myoclonic epilepsy,"[FIME, Familial infantile myoclonus epilepsy]","A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.",[605021],,,,,,,, +GARD:17522,Active,Orphanet,ORPHA:352596,Disorder,[Disease],Progressive myoclonic epilepsy with dystonia,"[PMED, Progressive myoclonus epilepsy with dystonia]","Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.",[615338],,,,,,,, +GARD:17523,Active,Orphanet,ORPHA:352654,Disorder,[Disease],Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,,"A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.",[615491],,,,,,,, +GARD:17524,Active,Orphanet,ORPHA:352657,Disorder,[Disease],Hereditary benign intraepithelial dyskeratosis,"[HBID, Hereditary benign corneal intraepithelial dyskeratosis]","A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching, superficial corneal scarring, excessive lacrimation, photophobia and visual loss due to corneal opacity. Histologically, both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis.",[127600],,,,,,,, +GARD:17525,Active,Orphanet,ORPHA:352662,Disorder,[Disease],Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,,"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is a rare, genetic, corneal dystrophy disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.",[615225],,,,,,,, +GARD:17526,Active,Orphanet,ORPHA:352682,Disorder,[Disease],Cobblestone lissencephaly without muscular or ocular involvement,"[Cobblestone lissencephaly without muscular or eye involvement, Lissencephaly type 2 without muscular or eye involvement, Lissencephaly type 2 without muscular or ocular involvement]","A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.",[615191],,,,,,,, +GARD:17527,Active,Orphanet,ORPHA:352709,Subtype of disorder,[Etiological subtype],CLN13 disease,,,[615362],,,,,,,, +GARD:17528,Active,Orphanet,ORPHA:352712,Disorder,[Disease],Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,[FILS syndrome],"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.",[615139],,,,,,,, +GARD:17529,Active,Orphanet,ORPHA:352718,Disorder,[Disease],Progressive retinal dystrophy due to retinol transport defect,[Retinol dystrophy-iris coloboma-comedogenic acne syndrome],"Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.",[615147],,,,,,,, +GARD:17530,Active,Orphanet,ORPHA:352737,Subtype of disorder,[Clinical subtype],Temperature-sensitive oculocutaneous albinism type 1,"[OCA1-TS, TS OCA type 1]","An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted.",[606952],,,,,,,, +GARD:17531,Active,Orphanet,ORPHA:352745,Disorder,[Disease],Oculocutaneous albinism type 7,[OCA7],"A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.",[615179],,,,,,,, +GARD:17532,Active,Orphanet,ORPHA:353217,Disorder,[Disease],Epileptic encephalopathy with global cerebral demyelination,"[AGC1 deficiency, Mitochondrial aspartate-glutamate carrier 1 deficiency]","Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.",[612949],,,,,,,, +GARD:17533,Active,Orphanet,ORPHA:353220,Disorder,[Disease],Familial primary localized cutaneous amyloidosis,[FPLCA],"A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis).","[105250, 613955]",,,,,,,, +GARD:17534,Active,Orphanet,ORPHA:353277,Subtype of disorder,[Etiological subtype],Rubinstein-Taybi syndrome due to CREBBP mutations,,,[180849],,,,,,,, +GARD:17535,Active,Orphanet,ORPHA:353284,Subtype of disorder,[Etiological subtype],Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,,,[613684],,,,,,,, +GARD:17536,Active,Orphanet,ORPHA:353308,Subtype of disorder,[Clinical subtype],"Pyruvate carboxylase deficiency, infantile type",[Pyruvate carboxylase deficiency type A],"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.",[266150],,,,,,,, +GARD:17537,Active,Orphanet,ORPHA:353314,Subtype of disorder,[Clinical subtype],"Pyruvate carboxylase deficiency, severe neonatal type",[Pyruvate carboxylase deficiency type B],"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.",[266150],,,,,,,, +GARD:17538,Active,Orphanet,ORPHA:353320,Subtype of disorder,[Clinical subtype],"Pyruvate carboxylase deficiency, benign type",[Pyruvate carboxylase deficiency type C],"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.",[266150],,,,,,,, +GARD:17539,Active,Orphanet,ORPHA:353327,Subtype of disorder,[Etiological subtype],Congenital myasthenic syndromes with glycosylation defect,,,"[614750, 616228, 610542, 616227]",,,,,,,, +GARD:17540,Active,Orphanet,ORPHA:356978,Disorder,[Disease],"D,L-2-hydroxyglutaric aciduria","[Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia, Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria, D,L-2-HGA, D,L-2-hydroxyglutaric acidemia]","A rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.",[615182],,,,,,,, +GARD:17541,Active,Orphanet,ORPHA:356996,Disorder,[Disease],ANK3-related intellectual disability-sleep disturbance syndrome,,"A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported.",[615493],,,,,,,, +GARD:17542,Active,Orphanet,ORPHA:357001,Disorder,[Malformation syndrome],19p13.13 microdeletion syndrome,"[Del(19)(p13.13), Monosomy 19p13.13]","A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).",[613638],,,,,,,, +GARD:17543,Active,Orphanet,ORPHA:357008,Disorder,[Disease],Hemolytic uremic syndrome with DGKE deficiency,[HUS with DGKE deficiency],,[615008],,,,,,,, +GARD:17544,Active,Orphanet,ORPHA:357027,Subtype of disorder,[Clinical subtype],Hereditary retinoblastoma,,,[180200],,,,,,,, +GARD:17545,Active,Orphanet,ORPHA:357034,Subtype of disorder,[Clinical subtype],Non-hereditary retinoblastoma,,,[180200],,,,,,,, +GARD:17546,Active,Orphanet,ORPHA:357074,Subtype of disorder,[Clinical subtype],"Autosomal recessive cutis laxa type 2, classic type","[ARCL2, Debré type, ARCL2, classic type, Autosomal recessive cutis laxa type 2, Debré type]",,"[617402, 219200, 617403]",,,,,,,, +GARD:17547,Active,Orphanet,ORPHA:357158,Disorder,[Disease],Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,[Macroblepharon-ectropion-hypertelorism-macrostomia syndrome],"Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anterverted nares, abnormal dentition and capillary hemangioma.",[602562],,,,,,,, +GARD:17548,Active,Orphanet,ORPHA:357175,Disorder,[Malformation syndrome],Short ulna-dysmorphism-hypotonia-intellectual disability syndrome,,"Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.",[615162],,,,,,,, +GARD:17549,Active,Orphanet,ORPHA:357237,Disorder,[Disease],Severe combined immunodeficiency due to CARD11 deficiency,[SCID due to CARD11 deficiency],"Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.",[615206],,,,,,,, +GARD:17550,Active,Orphanet,ORPHA:357329,Disorder,[Disease],Combined immunodeficiency due to IL21R deficiency,,"A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxicity to lymphopenia) due to IL21R deficiency, manifesting with recurrent respiratory and/or gastrointestinal tract infections and, in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.",[615207],,,,,,,, +GARD:17551,Active,Orphanet,ORPHA:357332,Disorder,[Malformation syndrome],Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,"[Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome, Wahab syndrome]","A rare, genetic, congenital limb malformation syndrome characterized by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet.",[615170],,,,,,,, +GARD:17552,Active,Orphanet,ORPHA:363400,Disorder,[Disease],Severe neurodegenerative syndrome with lipodystrophy,[Severe neurodegenerative syndrome due to BSCL2 deficiency],"Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated.",[615924],,,,,,,, +GARD:17553,Active,Orphanet,ORPHA:363409,Disorder,[Disease],Fetal akinesia-cerebral and retinal hemorrhage syndrome,"[LCCS5, Lethal congenital contracture syndrome type 5]","Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.",[615368],,,,,,,, +GARD:17554,Active,Orphanet,ORPHA:363412,Disorder,[Disease],Hypomyelination with brain stem and spinal cord involvement and leg spasticity,[HBSL],"Hypomyelination with brain stem and spinal cord involvement and leg spasticity is a rare, genetic, leukodystrophy disorder characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.",[615281],,,,,,,, +GARD:17555,Active,Orphanet,ORPHA:363424,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 3,"[IBA57 deficiency, MMDS3]","A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occiîtal lobes.",[615330],,,,,,,, +GARD:17556,Active,Orphanet,ORPHA:363429,Disorder,[Disease],Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome,,"A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.","[614831, 616204]",,,,,,,, +GARD:17557,Active,Orphanet,ORPHA:363432,Subtype of disorder,[Clinical subtype],Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,"[Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency, SCAR18]","A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.",[616204],,,,,,,, +GARD:17558,Active,Orphanet,ORPHA:363444,Disorder,[Malformation syndrome],THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,"[BBIS, Beaulieu-Boycott-Innes syndrome]","A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent.",[613680],,,,,,,, +GARD:17559,Active,Orphanet,ORPHA:363447,Disorder,[Disease],Autosomal dominant childhood-onset proximal spinal muscular atrophy,"[Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy, SMALED]","A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.","[615290, 158600]",,,,,,,, +GARD:17560,Active,Orphanet,ORPHA:363483,Disorder,[Disease],Testicular teratoma,[Teratoma of the testis],"A rare neoplastic disease characterized by the presence of a testicular tumor composed of several, well-differentiated or immature, tissues derived from one or more of the 3 germinal layers. Patients typically present unilateral (occasionally bilateral) painless testicular swelling or a palpable testicular nodule/mass.",[273300],,,,,,,, +GARD:17561,Active,Orphanet,ORPHA:363494,Disorder,[Disease],Non-seminomatous germ cell tumor of testis,"[Non-dysgerminomatous germ cell tumor of testis, Testicular non seminomatous germ cell tumor, Testicular non-dysgerminomatous germ cell tumor]","A form of testicular germ cell tumor occurring in the third decade of life with a usually painless unilateral mass in the scrotum or, in some cases, with gynaecomastia and/or back and flack pain. The clinical course is more aggressive than testicular seminomatous germ cell tumors with rapid involvement of blood vessels and a poorer prognosis. Histologically, the tumour can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components.",[273300],,,,,,,, +GARD:17562,Active,Orphanet,ORPHA:363523,Disorder,[Disease],Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,[Shaheen syndrome],"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.",[615328],,,,,,,, +GARD:17563,Active,Orphanet,ORPHA:363528,Disorder,[Disease],Intellectual disability-strabismus syndrome,,"Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.",[615286],,,,,,,, +GARD:17564,Active,Orphanet,ORPHA:363534,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","[mtDNA depletion syndrome, hepatocerebrorenal form]","Mitochondrial DNA depletion syndrome, hepatocerebrorenal form is a rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.",[271245],,,,,,,, +GARD:17565,Active,Orphanet,ORPHA:363540,Disorder,[Disease],Leukoencephalopathy with mild cerebellar ataxia and white matter edema,,"A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging, MRI), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.",[615651],,,,,,,, +GARD:17566,Active,Orphanet,ORPHA:363611,Disorder,[Disease],CTCF-related neurodevelopmental disorder,,"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.",[615502],,,,,,,, +GARD:17567,Active,Orphanet,ORPHA:363654,Disorder,[Disease],X-linked parkinsonism-spasticity syndrome,[XPDS],"A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.",[300911],,,,,,,, +GARD:17568,Active,Orphanet,ORPHA:363677,Disorder,[Disease],Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,,"A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.",[605637],,,,,,,, +GARD:17569,Active,Orphanet,ORPHA:363694,Disorder,[Disease],Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,[HUPRA syndrome],"Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.",[613845],,,,,,,, +GARD:17570,Active,Orphanet,ORPHA:363700,Subtype of disorder,[Etiological subtype],Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,[Von Recklinghausen disease due to NF1 mutation or intragenic deletion],,[162200],,,,,,,, +GARD:17571,Active,Orphanet,ORPHA:363705,Disorder,[Disease],Craniofaciofrontodigital syndrome,[Cantu craniofaciofrontodigital syndrome],"Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).",[114620],,,,,,,, +GARD:17572,Active,Orphanet,ORPHA:363717,Subtype of disorder,[Clinical subtype],Alexander disease type I,[AxD type I],"An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.",[203450],,,,,,,, +GARD:17573,Active,Orphanet,ORPHA:363722,Subtype of disorder,[Clinical subtype],Alexander disease type II,[AxD type II],"An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.",[203450],,,,,,,, +GARD:17574,Active,Orphanet,ORPHA:363727,Disorder,[Disease],X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,,"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.",[300835],,,,,,,, +GARD:17575,Active,Orphanet,ORPHA:363741,Disorder,[Disease],Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome,,"Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome is a rare, genetic, syndromic microphthalmia disorder characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.",[601794],,,,,,,, +GARD:17576,Active,Orphanet,ORPHA:363958,Subtype of disorder,[Etiological subtype],17q21.31 microdeletion syndrome,"[Del(17)(q21.31), Monosomy 17q21.31]",,[610443],,,,,,,, +GARD:17577,Active,Orphanet,ORPHA:363972,Disorder,[Malformation syndrome],Noonan syndrome-like disorder with juvenile myelomonocytic leukemia,"[CBL syndrome, Noonan syndrome-like disorder with JMML]","A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects, but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome.",[613563],,,,,,,, +GARD:17578,Active,Orphanet,ORPHA:363981,Disorder,[Disease],Charcot-Marie-Tooth disease type 4B3,"[CMT4B3, Charcot-Marie-Tooth disease with focally folded myelin]","Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).",[615284],,,,,,,, +GARD:17579,Active,Orphanet,ORPHA:363992,Disorder,[Disease],Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,[15q26.3 microdeletion syndrome],"A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.",[613195],,,,,,,, +GARD:17580,Active,Orphanet,ORPHA:363999,Subtype of disorder,[Clinical subtype],Non-immune hydrops fetalis,"[NIHF, Non-immune HF, Non-immune fetal edema, Non-immune fetal hydrops]","Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.",[236750],,,,,,,, +GARD:17581,Active,Orphanet,ORPHA:364028,Disorder,[Disease],X-linked intellectual disability due to GRIA3 mutations,,"A rare, genetic, X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, ren arcuatus, delayed motor development and disturbed sleep-wake cycle.",[300699],,,,,,,, +GARD:17582,Active,Orphanet,ORPHA:364063,Disorder,[Disease],Infantile epileptic-dyskinetic encephalopathy,,"A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.",[308350],,,,,,,, +GARD:17583,Active,Orphanet,ORPHA:364577,Disorder,[Malformation syndrome],Intellectual disability-brachydactyly-Pierre Robin syndrome,,"Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.",[608670],,,,,,,, +GARD:17584,Active,Orphanet,ORPHA:369837,Disorder,[Malformation syndrome],Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,"[Congenital disorder of glycosylation due to PIGT deficiency, MCAHS type 3, Multiple congenital anomalies-hypotonia-seizures syndrome type 3, PIGT-CDG]","A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.",[615398],,,,,,,, +GARD:17585,Active,Orphanet,ORPHA:369852,Disorder,[Disease],Congenital neutropenia-myelofibrosis-nephromegaly syndrome,"[Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome, VPS45 deficiency]","Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG).",[615285],,,,,,,, +GARD:17586,Active,Orphanet,ORPHA:369861,Disorder,[Disease],Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,[SIFD syndrome],"A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.",[616084],,,,,,,, +GARD:17587,Active,Orphanet,ORPHA:369867,Disorder,[Disease],Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,[RI-CMT type C],"A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.",[615376],,,,,,,, +GARD:17588,Active,Orphanet,ORPHA:369891,Disorder,[Malformation syndrome],Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,[MED13L-related intellectual disability syndrome],"A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features.",[616789],,,,,,,, +GARD:17589,Active,Orphanet,ORPHA:369913,Disorder,[Disease],Combined oxidative phosphorylation defect type 17,[COXPD17],"Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.",[615440],,,,,,,, +GARD:17590,Active,Orphanet,ORPHA:369920,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 9,[PCH9],"Pontocerebellar hypoplasia type 9 is a rare, genetic, subtype of non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.",[615809],,,,,,,, +GARD:17591,Active,Orphanet,ORPHA:369929,Disorder,[Disease],Primary hyperaldosteronism-seizures-neurological abnormalities syndrome,,"A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability).",[615474],,,,,,,, +GARD:17592,Active,Orphanet,ORPHA:369939,Disorder,[Malformation syndrome],Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,[Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome],"A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).",[300475],,,,,,,, +GARD:17593,Active,Orphanet,ORPHA:369970,Disorder,[Disease],Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,[MMCAT syndrome],"Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.",[615458],,,,,,,, +GARD:17594,Active,Orphanet,ORPHA:369992,Disorder,[Disease],Severe dermatitis-multiple allergies-metabolic wasting syndrome,"[Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome, SAM syndrome]","Severe dermatitis-multiple allergies-metabolic wasting syndrome is a rare, genetic, epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.",[615508],,,,,,,, +GARD:17595,Active,Orphanet,ORPHA:369999,Disorder,[Disease],Diffuse palmoplantar keratoderma with painful fissures,,"Diffuse palmoplantar keratoderma with painful fissures is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.",[148700],,,,,,,, +GARD:17596,Active,Orphanet,ORPHA:370002,Disorder,[Disease],Focal palmoplantar keratoderma with joint keratoses,,"Focal palmoplantar keratoderma with joint keratoses is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.",[148700],,,,,,,, +GARD:17597,Active,Orphanet,ORPHA:370022,Disorder,[Disease],Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,[Poretti-Boltshauser syndrome],"A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.",[615960],,,,,,,, +GARD:17598,Active,Orphanet,ORPHA:370091,Disorder,[Disease],Oculocutaneous albinism type 5,[OCA5],"A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.",[615312],,,,,,,, +GARD:17599,Active,Orphanet,ORPHA:370097,Disorder,[Disease],Oculocutaneous albinism type 6,[OCA6],"A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.",[113750],,,,,,,, +GARD:176,Active,Orphanet,ORPHA:592,Disorder,[Disease],Macrophagic myofasciitis,[MMF],"A rare acquired skeletal muscle disease characterized by infiltration of the epimysium, perimysium, and perifascicular endomysium by macrophages with crystal inclusions composed of aluminum salts at the site of a previous vaccination (most commonly the deltoid muscle). Muscle necrosis is typically absent. Patients may present with myalgias, arthralgias, muscle weakness, chronic fatigue, asthenia, fever, and cognitive dysfunction. Signs and symptoms usually develop slowly over several months.",,,,,,Macrophagic myofasciitis,TRUE,FALSE,Active +GARD:17600,Active,Orphanet,ORPHA:370334,Disorder,[Disease],Extraskeletal Ewing sarcoma,"[EOE, Extraosseous Ewing sarcoma, Extraosseous Ewing tumor, Extraskeletal Ewing tumor]","Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs.",[612219],,,,,,,, +GARD:17601,Active,Orphanet,ORPHA:370348,Disorder,[Disease],Peripheral primitive neuroectodermal tumor,"[PPNET, Peripheral PNET, Peripheral neuroepithelioma]","A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone.",[612219],,,,,,,, +GARD:17602,Active,Orphanet,ORPHA:370921,Disorder,[Disease],STT3A-CDG,"[CDG syndrome type Iw, CDG-Iw, CDG1W, Congenital disorder of glycosylation type 1w, Congenital disorder of glycosylation type Iw]","STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).",[615596],,,,,,,, +GARD:17603,Active,Orphanet,ORPHA:370924,Disorder,[Disease],STT3B-CDG,"[CDG syndrome type Ix, CDG-Ix, CDG1X, Carbohydrate deficient glycoprotein syndrome type Ix, Congenital disorder of glycosylation type 1x, Congenital disorder of glycosylation type Ix]","STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).",[615597],,,,,,,, +GARD:17604,Active,Orphanet,ORPHA:370943,Disorder,[Disease],Autism spectrum disorder-epilepsy-arthrogryposis syndrome,[SLC35A3-CDG],"A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.",[615553],,,,,,,, +GARD:17605,Active,Orphanet,ORPHA:370959,Disorder,[Disease],Congenital muscular dystrophy with cerebellar involvement,"[CMD with cerebellar involvement, CMD-CRB]","Congenital muscular dystrophy with cerebellar involvement is a rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.","[613151, 613155, 615351, 613156, 606612]",,,,,,,, +GARD:17606,Active,Orphanet,ORPHA:370968,Disorder,[Disease],Congenital muscular dystrophy with intellectual disability,"[CMD with intellectual disability, CMD-MR]","Congenital muscular dystrophy with intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.","[613155, 608840, 615351, 613156, 618992, 606612]",,,,,,,, +GARD:17607,Active,Orphanet,ORPHA:370980,Disorder,[Disease],Congenital muscular dystrophy without intellectual disability,"[CMD without intellectual disability, CMD-no MR, Congenital muscular dystrophy-dystroglycanopathy without intellectual disability]","Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.","[613152, 606612]",,,,,,,, +GARD:17608,Active,Orphanet,ORPHA:370997,Disorder,[Disease],Muscle-eye-brain disease with bilateral multicystic leucodystrophy,[MEB disease with bilateral multicystic leucodystrophy],"A rare, genetic, congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.",[616538],,,,,,,, +GARD:17609,Active,Orphanet,ORPHA:371364,Disorder,[Disease],Hypotonia-speech impairment-severe cognitive delay syndrome,"[IHPRF syndrome, Infantile hypotonia-psychomotor retardation-characteristic facies syndrome]","Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).","[615419, 616801]",,,,,,,, +GARD:17610,Active,Orphanet,ORPHA:371428,Disorder,[Disease],Multicentric osteolysis-nodulosis-arthropathy spectrum,"[MONA spectrum, NAO syndrome, Nodulosis-arthropathy-osteolysis syndrome, Torg-Winchester syndrome]","A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.","[259600, 277950]",,,,,,,, +GARD:17611,Active,Orphanet,ORPHA:391307,Disorder,[Malformation syndrome],Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,,"Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.",[615541],,,,,,,, +GARD:17612,Active,Orphanet,ORPHA:391311,Disorder,[Disease],Susceptibility to viral and mycobacterial infections due to STAT1 deficiency,"[Predisposition to severe viral infection due to STAT1 deficiency, STAT1 deficiency]","A rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.",[613796],,,,,,,, +GARD:17613,Active,Orphanet,ORPHA:391320,Subtype of disorder,[Etiological subtype],East Texas bleeding disorder,,"East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.",[605913],,,,,,,, +GARD:17614,Active,Orphanet,ORPHA:391330,Disorder,[Disease],X-linked osteoporosis with fractures,,"X-linked osteoporosis with fractures is a rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.",[300910],,,,,,,, +GARD:17615,Active,Orphanet,ORPHA:391348,Disorder,[Disease],Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,,"Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.",[615578],,,,,,,, +GARD:17616,Active,Orphanet,ORPHA:391351,Disorder,[Disease],SURF1-related Charcot-Marie-Tooth disease type 4,"[CMT4K, Charcot-Marie-Tooth disease type 4K, SURF1-related CMT4, SURF1-related severe demyelinating Charcot-Marie-Tooth disease]","A subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).",[616684],,,,,,,, +GARD:17617,Active,Orphanet,ORPHA:391376,Disorder,[Disease],Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,[Asparagine synthetase deficiency],"Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.",[615574],,,,,,,, +GARD:17618,Active,Orphanet,ORPHA:391389,Subtype of disorder,[Clinical subtype],Familial episodic pain syndrome with predominantly upper body involvement,,"Familial episodic pain syndrome with predominantly upper body involvement is a subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence.",[615040],,,,,,,, +GARD:17619,Active,Orphanet,ORPHA:391392,Subtype of disorder,[Clinical subtype],Familial episodic pain syndrome with predominantly lower limb involvement,,"Familial episodic pain syndrome with predominantly lower limb involvement is a subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area.",[615552],,,,,,,, +GARD:17620,Active,Orphanet,ORPHA:391408,Disorder,[Disease],Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,,"Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.","[616033, 616817]",,,,,,,, +GARD:17621,Active,Orphanet,ORPHA:391411,Disorder,[Disease],Atypical juvenile parkinsonism,,"A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.","[615528, 615530]",,,,,,,, +GARD:17622,Active,Orphanet,ORPHA:391428,Subtype of disorder,[Clinical subtype],"HSD10 disease, infantile type","[2-methyl-3-hydroxybutyric aciduria, classic type, 2-methyl-3-hydroxybutyric aciduria, infantile type, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type, HSD10 deficiency, classic type, HSD10 deficiency, infantile type, HSD10 disease, classic type, MHBD deficiency, classic type, MHBD deficiency, infantile type]","HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age.",[300438],,,,,,,, +GARD:17623,Active,Orphanet,ORPHA:391457,Subtype of disorder,[Clinical subtype],"HSD10 disease, neonatal type","[2-methyl-3-hydroxybutyric aciduria, neonatal type, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type, HSD10 deficiency, neonatal type, MHBD deficiency, neonatal type]","HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.",[300438],,,,,,,, +GARD:17624,Active,Orphanet,ORPHA:391641,Subtype of disorder,[Clinical subtype],Feingold syndrome type 1,"[Brunner-Winter syndrome type 1, Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1, FGLDS1, FS1, MMT type 1, MODED syndrome type 1, Microcephaly-digital anomalies-normal intelligence syndrome type 1, Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1, Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1, ODED syndrome type 1, Oculo-digito-esophageal-duodenal syndrome type 1]","A rare, genetic congenital malformation syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.",[164280],,,,,,,, +GARD:17625,Active,Orphanet,ORPHA:391646,Subtype of disorder,[Clinical subtype],Feingold syndrome type 2,"[Brachydactyly-short stature-microcephaly syndrome, Brunner-Winter syndrome type 2, FGLDS2, FS2, MMT type 2, Microcephaly-digital anomalies-normal intelligence syndrome type 2, Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2]","A rare, genetic congenital malformation syndrome characterized by microcephaly, short stature, digital anomalies (brachymesophalangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs) and mild intellectual disabilities but that lacks the manifestations of gastrointestinal atresia.",[614326],,,,,,,, +GARD:17626,Active,Orphanet,ORPHA:394529,Subtype of disorder,[Clinical subtype],"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type","[Glutaric aciduria type 2, severe neonatal type, MAD deficiency, severe neonatal type, MADD, severe neonatal type]",,"[231680, 255100]",,,,,,,, +GARD:17627,Active,Orphanet,ORPHA:394532,Subtype of disorder,[Clinical subtype],"Multiple acyl-CoA dehydrogenase deficiency, mild type","[Glutaric aciduria type 2, mild type, MAD deficiency, mild type, MADD, mild type]",,"[231680, 255100]",,,,,,,, +GARD:17628,Active,Orphanet,ORPHA:397590,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to a point mutation,,,"[618907, 618908, 616489]",,,,,,,, +GARD:17629,Active,Orphanet,ORPHA:397593,Disorder,[Disease],Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,,"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.",[615595],,,,,,,, +GARD:17630,Active,Orphanet,ORPHA:397612,Disorder,[Malformation syndrome],Macrocephaly-developmental delay syndrome,,"Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.",[615637],,,,,,,, +GARD:17631,Active,Orphanet,ORPHA:397615,Subtype of disorder,[Etiological subtype],Obesity due to CEP19 deficiency,,"A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.",[615703],,,,,,,, +GARD:17632,Active,Orphanet,ORPHA:397618,Disorder,[Disease],Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,[FHONDA syndrome],"Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome is a rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.",[609218],,,,,,,, +GARD:17633,Active,Orphanet,ORPHA:397623,Disorder,[Malformation syndrome],Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,[SAMS syndrome],"Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.",[602471],,,,,,,, +GARD:17634,Active,Orphanet,ORPHA:397685,Disorder,[Disease],Familial hyperprolactinemia,[Familial isolated prolactin receptor deficiency],"Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.",[615555],,,,,,,, +GARD:17635,Active,Orphanet,ORPHA:397692,Disorder,[Disease],Hereditary isolated aplastic anemia,,"Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.",[616553],,,,,,,, +GARD:17636,Active,Orphanet,ORPHA:397709,Disorder,[Malformation syndrome],Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,"[Autosomal recessive spinocerebellar ataxia type 20, Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome, SCAR20]","Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.",[616354],,,,,,,, +GARD:17637,Active,Orphanet,ORPHA:397715,Disorder,[Malformation syndrome],Joubert syndrome with Jeune asphyxiating thoracic dystrophy,"[JBTS with JATD, Joubert syndrome with JATD]","A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.","[615636, 616546]",,,,,,,, +GARD:17638,Active,Orphanet,ORPHA:397735,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2U,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation, CMT2U]","A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.",[616280],,,,,,,, +GARD:17639,Active,Orphanet,ORPHA:397744,Disorder,[Disease],Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,[Peripheral neuropathy-myopathy-hoarseness-deafness syndrome],"Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.",[614369],,,,,,,, +GARD:17640,Active,Orphanet,ORPHA:397758,Disorder,[Disease],Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,[Retinal dystrophy with inner nuclear layer and ganglion cell anomalies],"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.",[616079],,,,,,,, +GARD:17641,Active,Orphanet,ORPHA:397787,Disorder,[Disease],Severe combined immunodeficiency due to IKK2 deficiency,[SCID due to IKK2 deficiency],"Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.","[618204, 615592]",,,,,,,, +GARD:17642,Active,Orphanet,ORPHA:397927,Disorder,[Malformation syndrome],Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,,"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.",[615709],,,,,,,, +GARD:17643,Active,Orphanet,ORPHA:397937,Disorder,[Disease],Polyglucosan body myopathy type 1,[PGBM1],"Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.",[615895],,,,,,,, +GARD:17644,Active,Orphanet,ORPHA:397946,Disorder,[Disease],Autosomal spastic paraplegia type 58,"[Autosomal spastic ataxia type 2, SPAX2, SPG58]","A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.",[611302],,,,,,,, +GARD:17645,Active,Orphanet,ORPHA:397951,Disorder,[Disease],Microcephaly-thin corpus callosum-intellectual disability syndrome,,"A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.",[615599],,,,,,,, +GARD:17646,Active,Orphanet,ORPHA:397959,Disorder,[Disease],TCR-alpha-beta-positive T-cell deficiency,[TCR-alpha-beta+ T-cell deficiency],"TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.",[615387],,,,,,,, +GARD:17647,Active,Orphanet,ORPHA:397964,Disorder,[Disease],Combined immunodeficiency due to MALT1 deficiency,,"Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.",[615468],,,,,,,, +GARD:17648,Active,Orphanet,ORPHA:397973,Disorder,[Disease],Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,[MOMES syndrome],"Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth.",[606772],,,,,,,, +GARD:17649,Active,Orphanet,ORPHA:398173,Subtype of disorder,[Clinical subtype],Focal facial dermal dysplasia type II,"[FFDD type II, FFDD2, Focal facial dermal dysplasia 2, Brauer-Setleis type]","Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.",[614973],,,,,,,, +GARD:17650,Active,Orphanet,ORPHA:398189,Subtype of disorder,[Clinical subtype],Focal facial dermal dysplasia type IV,"[FFDD type IV, FFDD4, Focal facial dermal dysplasia 4, Focal facial preauricular dysplasia]","Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.",[614974],,,,,,,, +GARD:17651,Active,Orphanet,ORPHA:399058,Disorder,[Disease],Alpha-B crystallin-related late-onset myopathy,"[Alpha-B crystallin-related late-onset distal myopathy, Late-onset distal crystallinopathy]","A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes.",[608810],,,,,,,, +GARD:17652,Active,Orphanet,ORPHA:399086,Disorder,[Disease],Finnish upper limb-onset distal myopathy,"[Distal myopathy type 3, MPD3]","Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.",[610099],,,,,,,, +GARD:17653,Active,Orphanet,ORPHA:399096,Disorder,[Disease],Distal anoctaminopathy,"[MMD3, Miyoshi muscular dystrophy type 3]","Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.",[613319],,,,,,,, +GARD:17654,Active,Orphanet,ORPHA:399808,Disorder,[Disease],Male infertility with teratozoospermia due to single gene mutation,,"Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.","[102530, 619102, 243060, 615413, 301059, 619144, 619177, 613958, 619258, 619094, 619145, 619044, 619095]",,,,,,,, +GARD:17655,Active,Orphanet,ORPHA:401764,Disorder,[Disease],Pancytopenia-developmental delay syndrome,[Trilineage bone marrow failure-developmental delay syndrome],"Pancytopenia-developmental delay syndrome is a rare, genetic, hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.",[615715],,,,,,,, +GARD:17656,Active,Orphanet,ORPHA:401780,Disorder,[Disease],Autosomal recessive spastic paraplegia type 61,[SPG61],"Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.",[615685],,,,,,,, +GARD:17657,Active,Orphanet,ORPHA:401785,Disorder,[Disease],Autosomal recessive spastic paraplegia type 62,[SPG62],"A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.",[615681],,,,,,,, +GARD:17658,Active,Orphanet,ORPHA:401805,Disorder,[Disease],Autosomal recessive spastic paraplegia type 63,[SPG63],"Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.",[615686],,,,,,,, +GARD:17659,Active,Orphanet,ORPHA:401810,Disorder,[Disease],Autosomal recessive spastic paraplegia type 64,[SPG64],"Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.",[615683],,,,,,,, +GARD:17660,Active,Orphanet,ORPHA:401849,Disorder,[Disease],Autosomal spastic paraplegia type 72,[SPG72],"Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.",[615625],,,,,,,, +GARD:17661,Active,Orphanet,ORPHA:401869,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 1,"[MMDS1, NFU1 deficiency]","A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy.",[605711],,,,,,,, +GARD:17662,Active,Orphanet,ORPHA:401874,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 2,"[BOLA3 deficiency, MMDS2]","A rare mitochondrial disease characterized by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinemia, and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy.",[614299],,,,,,,, +GARD:17663,Active,Orphanet,ORPHA:401942,Disorder,[Malformation syndrome],Familial median cleft of the upper and lower lips,,"Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.",[615892],,,,,,,, +GARD:17664,Active,Orphanet,ORPHA:401945,Disorder,[Disease],Moyamoya disease with early-onset achalasia,,"Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.",[615750],,,,,,,, +GARD:17665,Active,Orphanet,ORPHA:401953,Disorder,[Disease],Episodic ataxia with slurred speech,[Episodic ataxia type 8],"Episodic ataxia with slurred speech is a rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.",[616055],,,,,,,, +GARD:17666,Active,Orphanet,ORPHA:401973,Disorder,[Malformation syndrome],MEND syndrome,[Male EBP disorder with neurological defects],"MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.",[300960],,,,,,,, +GARD:17667,Active,Orphanet,ORPHA:401979,Disorder,[Malformation syndrome],"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.",[613320],,,,,,,, +GARD:17668,Active,Orphanet,ORPHA:401986,Disorder,[Malformation syndrome],1p31p32 microdeletion syndrome,"[Del(1)(p31p32), Monosomy 1p31p32]","1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.",[613735],,,,,,,, +GARD:17669,Active,Orphanet,ORPHA:402003,Disorder,[Disease],Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,,"A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.",[615735],,,,,,,, +GARD:17670,Active,Orphanet,ORPHA:402075,Disorder,[Morphological anomaly],Familial bicuspid aortic valve,[Familial BAV],"Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).","[614823, 109730]",,,,,,,, +GARD:17671,Active,Orphanet,ORPHA:402082,Disorder,[Disease],Progressive myoclonic epilepsy type 5,"[EPM5, PME type 5, Progressive myoclonus epilepsy type 5]","A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.",[607459],,,,,,,, +GARD:17672,Active,Orphanet,ORPHA:404437,Disorder,[Malformation syndrome],Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,,"Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.",[615760],,,,,,,, +GARD:17673,Active,Orphanet,ORPHA:404440,Disorder,[Malformation syndrome],Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency,,"Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.",[615761],,,,,,,, +GARD:17674,Active,Orphanet,ORPHA:404443,Disorder,[Malformation syndrome],Tatton-Brown-Rahman syndrome,"[DNMT3A-related overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome]","A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.",[615879],,,,,,,, +GARD:17675,Active,Orphanet,ORPHA:404466,Disorder,[Disease],Female infertility due to zona pellucida defect,,"Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.","[615774, 618353, 617712]",,,,,,,, +GARD:17676,Active,Orphanet,ORPHA:404476,Disorder,[Malformation syndrome],Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,[GLOW syndrome],"Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior.",[618272],,,,,,,, +GARD:17677,Active,Orphanet,ORPHA:404493,Disorder,[Disease],Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,"[SCAR23, Spinocerebellar ataxia autosomal recessive type 23]","A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.",[616949],,,,,,,, +GARD:17678,Active,Orphanet,ORPHA:404499,Disorder,[Disease],Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,"[Autosomal recessive spinocerebellar ataxia type 15, SCAR15, Salih ataxia]","An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.",[615705],,,,,,,, +GARD:17679,Active,Orphanet,ORPHA:404546,Disorder,[Disease],DITRA,"[Deficiency of IL-36R antagonist, Deficiency of IL-36Ra]","A rare, genetic, autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated.",[614204],,,,,,,, +GARD:17680,Active,Orphanet,ORPHA:411493,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 10,"[CLP1-related pontocerebellar hypoplasia, PCH10]","Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.",[615803],,,,,,,, +GARD:17681,Active,Orphanet,ORPHA:411536,Subtype of disorder,[Clinical subtype],Mild phosphoribosylpyrophosphate synthetase superactivity,"[Mild PRPP synthetase superactivity, Mild PRPS1 superactivity]","A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria, leading to urolithiasis and gout.",[300661],,,,,,,, +GARD:17682,Active,Orphanet,ORPHA:411543,Subtype of disorder,[Clinical subtype],Severe phosphoribosylpyrophosphate synthetase superactivity,"[Severe PRPP synthetase superactivity, Severe PRPS1 superactivity]","A severe form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by early onset hyperuricemia and hyperuricosuria, and clinically manifesting with urolithiasis, gout and neurodevelopmental anomalies consisting of variable combinations of sensorineural hearing loss, hypotonia, and ataxia.",[300661],,,,,,,, +GARD:17683,Active,Orphanet,ORPHA:411590,Disorder,[Disease],Wolfram-like syndrome,,"Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.",[614296],,,,,,,, +GARD:17684,Active,Orphanet,ORPHA:411602,Disorder,[Disease],Hereditary late-onset Parkinson disease,"[Autosomal dominant late-onset Parkinson disease, LOPD]","Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).","[614203, 605543, 607060, 607688, 614251, 616361, 168601]",,,,,,,, +GARD:17685,Active,Orphanet,ORPHA:411634,Subtype of disorder,[Clinical subtype],Juvenile nephropathic cystinosis,"[Intermediate cystinosis, Juvenile cystinosis]","A subtype of cystinosis characterized by an accumulation of cystine in different organs and tissues, particularly in the kidneys and eyes, and that clinically manifests between childhood and adolescence with a slowly progressive proximal tubulopathy and/or proteinuria, and photophobia. Extra-renal manifestations (e.g. hypothyroidism, insulin-dependent diabetes, hepatosplenomegaly, muscular and cerebral involvement) are less severe than in the infantile form of the disease.",[219900],,,,,,,, +GARD:17686,Active,Orphanet,ORPHA:411712,Disorder,[Disease],Maternal riboflavin deficiency,,"Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances.",[615026],,,,,,,, +GARD:17687,Active,Orphanet,ORPHA:411986,Disorder,[Malformation syndrome],Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,[Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome],"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.",[615859],,,,,,,, +GARD:17688,Active,Orphanet,ORPHA:412022,Disorder,[Malformation syndrome],Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,"[FDLAB syndrome, Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome, Traboulsi syndrome]","Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.",[601552],,,,,,,, +GARD:17689,Active,Orphanet,ORPHA:412057,Disorder,[Disease],Autosomal recessive cerebellar ataxia due to STUB1 deficiency,"[SCAR16, Spinocerebellar ataxia autosomal recessive type 16]","A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.",[615768],,,,,,,, +GARD:17690,Active,Orphanet,ORPHA:412181,Disorder,[Disease],Epidermolysis bullosa simplex due to BP230 deficiency,"[DST-related epidermolysis bullosa simplex, EBS due to BP230 deficiency]","A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.",[615425],,,,,,,, +GARD:17691,Active,Orphanet,ORPHA:412189,Disorder,[Disease],Epidermolysis bullosa simplex due to exophilin 5 deficiency,[EBS due to exophilin 5 deficiency],"A rare, inherited, epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.",[615028],,,,,,,, +GARD:17692,Active,Orphanet,ORPHA:412206,Disorder,[Disease],Primary failure of tooth eruption,"[PFE, Primary retention of teeth]","A rare genetic odontologic disease characterized by failure of eruption of non-ankylosed permanent teeth without evidence of obvious mechanical obstruction. Posterior teeth are preferentially affected (typically with involvement of all teeth distal to the most mesial non-erupted tooth), resulting in a posterior open bite. Non-ankylosed teeth tend to become ankylosed, and orthodontic treatment of affected teeth is generally unsuccessful.",[125350],,,,,,,, +GARD:17693,Active,Orphanet,ORPHA:420485,Disorder,[Disease],Cranio-cervical dystonia with laryngeal and upper-limb involvement,"[DYT24, Dystonia 24]","Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.",[615034],,,,,,,, +GARD:17694,Active,Orphanet,ORPHA:420492,Disorder,[Disease],"Adult-onset cervical dystonia, DYT23 type","[DYT23, Dystonia 23]","A rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.",[614860],,,,,,,, +GARD:17695,Active,Orphanet,ORPHA:420566,Disorder,[Disease],Bleeding disorder due to CalDAG-GEFI deficiency,[Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency],"Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.",[615888],,,,,,,, +GARD:17696,Active,Orphanet,ORPHA:420573,Disorder,[Disease],Severe combined immunodeficiency due to CTPS1 deficiency,[SCID due to CTPS1 deficiency],"A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.",[615897],,,,,,,, +GARD:17697,Active,Orphanet,ORPHA:420686,Disorder,[Disease],Woolly hair-palmoplantar keratoderma syndrome,"[KWWH type IV, Keratoderma with woolly hair type IV, Woolly hair-palmoplantar hyperkeratosis syndrome]","Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.",[616099],,,,,,,, +GARD:17698,Active,Orphanet,ORPHA:420702,Disorder,[Disease],Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,,"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.",[617014],,,,,,,, +GARD:17699,Active,Orphanet,ORPHA:420728,Disorder,[Disease],Combined oxidative phosphorylation defect type 20,[COXPD20],"Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).",[615917],,,,,,,, +GARD:177,Active,Orphanet,ORPHA:2432,Disorder,[Malformation syndrome],Macrosomia-microphthalmia-cleft palate syndrome,[Teebi-Al Saleh-Hassoon syndrome],"Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.",[248110],,,,,Macrosomia with lethal microphthalmia,TRUE,FALSE,Active +GARD:17700,Active,Orphanet,ORPHA:420733,Disorder,[Disease],Combined oxidative phosphorylation defect type 21,[COXPD21],"Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.",[615918],,,,,,,, +GARD:17701,Active,Orphanet,ORPHA:420741,Disorder,[Malformation syndrome],RIDDLE syndrome,"[RNF168 deficiency, Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome]","A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).",[611943],,,,,,,, +GARD:17702,Active,Orphanet,ORPHA:423384,Disorder,[Disease],Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency,,"Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated.",[616022],,,,,,,, +GARD:17703,Active,Orphanet,ORPHA:423454,Disorder,[Disease],Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,"[Ectodermal dysplasia-short stature syndrome, Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome]","Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.",[616029],,,,,,,, +GARD:17704,Active,Orphanet,ORPHA:423461,Subtype of disorder,[Clinical subtype],Mucolipidosis type III alpha/beta,"[ML 3 alpha/beta, ML III alpha/beta, Mucolipidosis type 3 alpha/beta]","Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.",[252600],,,,,,,, +GARD:17705,Active,Orphanet,ORPHA:423470,Subtype of disorder,[Clinical subtype],Mucolipidosis type III gamma,"[ML 3 gamma, ML III gamma, Mucolipidosis type 3 gamma]","Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.",[252605],,,,,,,, +GARD:17706,Active,Orphanet,ORPHA:424027,Disorder,[Disease],Progressive myoclonic epilepsy type 8,"[EPM8, PME type 8, Progressive myoclonic epilepsy due to CERS1 deficiency, Progressive myoclonus epilepsy type 8]","A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.",[616230],,,,,,,, +GARD:17707,Active,Orphanet,ORPHA:424099,Disorder,[Malformation syndrome],Colobomatous microphthalmia-rhizomelic dysplasia syndrome,[Microphthalmia-coloboma-rhizomelic skeletal dysplasia],"Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.",[615877],,,,,,,, +GARD:17708,Active,Orphanet,ORPHA:424261,Disorder,[Disease],TOR1AIP1-related limb-girdle muscular dystrophy,"[Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive muscular dystrophy due to LAP1B deficiency, Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency, LGMD type 2Y, LGMD2Y, Muscular dystrophy with progressive weakness, distal contractures and rigid spine, TOR1AIP1-related LGMD]","A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.",[617072],,,,,,,, +GARD:17709,Active,Orphanet,ORPHA:431140,Disorder,[Malformation syndrome],X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,[X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome],"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.",[300915],,,,,,,, +GARD:17710,Active,Orphanet,ORPHA:431149,Disorder,[Disease],Combined immunodeficiency due to OX40 deficiency,"[Combined immunodeficiency with childhood-onset Kaposi sarcoma, Combined immunodeficiency with impaired immunity to HHV-8, Combined immunodeficiency with impaired immunity to human herpes virus 8]","Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.",[615593],,,,,,,, +GARD:17711,Active,Orphanet,ORPHA:431166,Disorder,[Disease],Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,[Primary immunodeficiency with post-MMR vaccine viral infection],"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.","[616636, 616669]",,,,,,,, +GARD:17712,Active,Orphanet,ORPHA:431329,Disorder,[Disease],Autosomal recessive spastic paraplegia type 57,"[SPG57, Spastic paraplegia due to partial TFG deficiency]","Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.",[615658],,,,,,,, +GARD:17713,Active,Orphanet,ORPHA:435329,Disorder,[Disease],Familial ossifying fibroma,[Multiple ossifying fibroma],"A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion.",[137575],,,,,,,, +GARD:17714,Active,Orphanet,ORPHA:435387,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2Y,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation, CMT2 due to VCP mutation, CMT2Y]","A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported.",[616687],,,,,,,, +GARD:17715,Active,Orphanet,ORPHA:435438,Disorder,[Disease],Progressive myoclonic epilepsy type 7,"[EPM7, MEAK, Myoclonus epilepsy and ataxia due to potassium channel mutation, PME type 7, Progressive myoclonic epilepsy due to KV3.1 deficiency, Progressive myoclonus epilepsy type 7]","A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.",[616187],,,,,,,, +GARD:17716,Active,Orphanet,ORPHA:435628,Disorder,[Malformation syndrome],Keppen-Lubinsky syndrome,[Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome],"A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal.",[614098],,,,,,,, +GARD:17717,Active,Orphanet,ORPHA:435804,Disorder,[Disease],Short stature-advanced bone age-early-onset osteoarthritis syndrome,,"A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.",[165800],,,,,,,, +GARD:17718,Active,Orphanet,ORPHA:435845,Disorder,[Malformation syndrome],Lethal neonatal spasticity-epileptic encephalopathy syndrome,[Lethal neonatal rigidity-multifocal seizure syndrome],"A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood.","[614498, 618056]",,,,,,,, +GARD:17719,Active,Orphanet,ORPHA:435930,Disorder,[Disease],Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,,"A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.",[212550],,,,,,,, +GARD:17720,Active,Orphanet,ORPHA:435934,Disorder,[Disease],COG2-CDG,[COG2-related congenital disorder of glycosylation],"A rare, congenital disorder of glycosylation caused by mutations in the COG2 gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.",[617395],,,,,,,, +GARD:17721,Active,Orphanet,ORPHA:435938,Disorder,[Malformation syndrome],X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,,"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.",[300998],,,,,,,, +GARD:17722,Active,Orphanet,ORPHA:435953,Disorder,[Disease],Progeroid features-hepatocellular carcinoma predisposition syndrome,[Ruijs-Aalfs syndrome],"A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported.",[616200],,,,,,,, +GARD:17723,Active,Orphanet,ORPHA:435998,Disorder,[Disease],Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,[RI-CMT type D],"Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.",[616039],,,,,,,, +GARD:17724,Active,Orphanet,ORPHA:436151,Disorder,[Disease],Intellectual disability-expressive aphasia-facial dysmorphism syndrome,[Intellectual disability-loss of expressive language-facial dysmorphism syndrome],"A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures.","[616078, 616083]",,,,,,,, +GARD:17725,Active,Orphanet,ORPHA:436166,Disorder,[Disease],Periodic fever-infantile enterocolitis-autoinflammatory syndrome,"[NLRC4-related MAS, NLRC4-related autoinflammatory syndrome with MAS, NLRC4-related autoinflammatory syndrome with macrophage activation syndrome, NLRC4-related infantile enterocolitis-autoinflammatory syndrome, NLRC4-related macrophage activation syndrome]","A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.",[616050],,,,,,,, +GARD:17726,Active,Orphanet,ORPHA:436169,Disorder,[Disease],Thrombomodulin-related bleeding disorder,"[THBD-related bleeding disorder, THBD-related coagulopathy, Thrombomodulin-related coagulopathy]","A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation.",[614486],,,,,,,, +GARD:17727,Active,Orphanet,ORPHA:436174,Disorder,[Disease],Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,[CAGSSS],"A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.",[616007],,,,,,,, +GARD:17728,Active,Orphanet,ORPHA:436182,Disorder,[Malformation syndrome],Microcephalic primordial dwarfism-insulin resistance syndrome,,"A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.","[616541, 617253]",,,,,,,, +GARD:17729,Active,Orphanet,ORPHA:436242,Disorder,[Disease],Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,,"A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.",[616117],,,,,,,, +GARD:17730,Active,Orphanet,ORPHA:436245,Disorder,[Disease],Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,[Retinal dystrophy-juvenile cataract-short stature syndrome],"A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).",[616108],,,,,,,, +GARD:17731,Active,Orphanet,ORPHA:436252,Disorder,[Disease],Combined immunodeficiency-enteropathy spectrum,[CID-MIA/early-onset IBD],"A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.",[243150],,,,,,,, +GARD:17732,Active,Orphanet,ORPHA:437552,Disorder,[Disease],Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,"[Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity, CD16 deficiency]","A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.",[615707],,,,,,,, +GARD:17733,Active,Orphanet,ORPHA:438075,Disorder,[Disease],Ketoacidosis due to monocarboxylate transporter-1 deficiency,,"A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.",[616095],,,,,,,, +GARD:17734,Active,Orphanet,ORPHA:438114,Disorder,[Disease],RARS-related autosomal recessive hypomyelinating leukodystrophy,,"A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.",[616140],,,,,,,, +GARD:17735,Active,Orphanet,ORPHA:438117,Disorder,[Disease],Steel syndrome,[Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome],"A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.",[615155],,,,,,,, +GARD:17736,Active,Orphanet,ORPHA:438134,Disorder,[Disease],PCNA-related progressive neurodegenerative photosensitivity syndrome,,"PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.",[615919],,,,,,,, +GARD:17737,Active,Orphanet,ORPHA:438159,Disorder,[Disease],STAT3-related early-onset multisystem autoimmune disease,,"A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells.",[615952],,,,,,,, +GARD:17738,Active,Orphanet,ORPHA:438207,Disorder,[Disease],Severe autosomal recessive macrothrombocytopenia,,"A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia.",[616176],,,,,,,, +GARD:17739,Active,Orphanet,ORPHA:438213,Disorder,[Disease],PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome,,"A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.",[616158],,,,,,,, +GARD:17740,Active,Orphanet,ORPHA:438216,Subtype of disorder,[Etiological subtype],PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,,,[616158],,,,,,,, +GARD:17741,Active,Orphanet,ORPHA:439254,Disorder,[Disease],ITM2B amyloidosis,"[Familial cerebral amyloid angiopathy, ITM2B-related amyloidosis, ITM2B-related cerebral amyloid angiopathy]","A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.","[117300, 176500]",,,,,,,, +GARD:17742,Active,Orphanet,ORPHA:439822,Disorder,[Malformation syndrome],PDE4D haploinsufficiency syndrome,,"PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.",[615668],,,,,,,, +GARD:17743,Active,Orphanet,ORPHA:439897,Disorder,[Malformation syndrome],Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,,"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.",[616258],,,,,,,, +GARD:17744,Active,Orphanet,ORPHA:440392,Disorder,[Disease],Interstitial lung disease due to SP-C deficiency,[Interstitial lung disease due to surfactant protein C deficiency],"A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.",[610913],,,,,,,, +GARD:17745,Active,Orphanet,ORPHA:440402,Disorder,[Disease],Interstitial lung disease due to ABCA3 deficiency,[Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency],"Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.",[610921],,,,,,,, +GARD:17746,Active,Orphanet,ORPHA:440427,Disorder,[Disease],Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,"[Hereditary pulmonary alveolar proteinosis with hepatic involvement, Interstitial lung and liver disease, PAP, Reunion island type, Pulmonary alveolar proteinosis, Reunion island type]","A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis.",[615486],,,,,,,, +GARD:17747,Active,Orphanet,ORPHA:440706,Disorder,[Disease],Ribose-5-P isomerase deficiency,,"Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.",[608611],,,,,,,, +GARD:17748,Active,Orphanet,ORPHA:440731,Disorder,[Biological anomaly],L-ferritin deficiency,,"A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported.",[615604],,,,,,,, +GARD:17749,Active,Orphanet,ORPHA:443057,Subtype of disorder,[Clinical subtype],Sporadic porphyria cutanea tarda,[Porphyria cutanea tarda type I],,[176090],,,,,,,, +GARD:17750,Active,Orphanet,ORPHA:443062,Subtype of disorder,[Clinical subtype],Familial porphyria cutanea tarda,[Porphyria cutanea tarda type II],,[176100],,,,,,,, +GARD:17751,Active,Orphanet,ORPHA:443073,Disorder,[Disease],Charcot-Marie-Tooth disease type 2S,[CMT2S],"A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.",[616155],,,,,,,, +GARD:17752,Active,Orphanet,ORPHA:443087,Disorder,[Disease],"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",,,[614279],,,,,,,, +GARD:17753,Active,Orphanet,ORPHA:443098,Disorder,[Disease],Hyperostosis cranialis interna,,"A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases.",[144755],,,,,,,, +GARD:17754,Active,Orphanet,ORPHA:443192,Subtype of disorder,[Clinical subtype],Classic stiff person syndrome,[Classic SPS],,[184850],,,,,,,, +GARD:17755,Active,Orphanet,ORPHA:443197,Disorder,[Disease],X-linked erythropoietic protoporphyria,"[X-linked dominant erythropoietic protoporphyria, X-linked dominant protoporphyria, XLDPP, XLPP]","A rare disorder of porphyrin and heme metabolism characterized by infantile or childhood onset of severe cutaneous photosensitivity in affected males, presenting as tingling, burning, and itching within minutes of light exposure, often accompanied by swelling and redness of the skin. Pain may persist for hours or days after the initial reaction. Some patients show hepatic involvement and gallstone formation. Laboratory examination reveals increased levels of zinc- and metal-free protoporphyrin. The phenotype in heterozygous females ranges from asymptomatic to severe.",[300752],,,,,,,, +GARD:17756,Active,Orphanet,ORPHA:443804,Subtype of disorder,[Clinical subtype],Focal stiff limb syndrome,"[Focal stiff-person syndrome, Stiff leg syndrome]",,[184850],,,,,,,, +GARD:17757,Active,Orphanet,ORPHA:443988,Disorder,[Disease],Ventriculomegaly-cystic kidney disease,"[Congenital nephrosis-cerebral ventriculomegaly syndrome, VMCKD]","A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.",[219730],,,,,,,, +GARD:17758,Active,Orphanet,ORPHA:443995,Disorder,[Malformation syndrome],Mandibulofacial dysostosis with alopecia,[MFDA],"A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss.",[616367],,,,,,,, +GARD:17759,Active,Orphanet,ORPHA:444013,Disorder,[Disease],Combined oxidative phosphorylation defect type 23,[COXPD23],"A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.",[616198],,,,,,,, +GARD:17760,Active,Orphanet,ORPHA:444048,Disorder,[Disease],"46,XX ovarian dysgenesis-short stature syndrome",,"A rare, genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.",[616185],,,,,,,, +GARD:17761,Active,Orphanet,ORPHA:444072,Disorder,[Malformation syndrome],Cerebellar-facial-dental syndrome,[Cerebellofaciodental syndrome],"A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.",[616202],,,,,,,, +GARD:17762,Active,Orphanet,ORPHA:444092,Disorder,[Disease],Autoimmune interstitial lung disease-arthritis syndrome,[COPA syndrome],"A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.",[616414],,,,,,,, +GARD:17763,Active,Orphanet,ORPHA:444099,Disorder,[Disease],Autosomal dominant spastic paraplegia type 73,[SPG73],"A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.",[616282],,,,,,,, +GARD:17764,Active,Orphanet,ORPHA:444138,Disorder,[Disease],Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,[PLACK syndrome],"A rare genetic skin disease characterized by generalized skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas shows hyperkeratosis, acanthosis, and intraepidermal clefting with irregular acantholysis. Additional systemic abnormalities are absent.",[616295],,,,,,,, +GARD:17765,Active,Orphanet,ORPHA:444458,Disorder,[Disease],Combined oxidative phosphorylation defect type 24,[COXPD24],"Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.",[616239],,,,,,,, +GARD:17766,Active,Orphanet,ORPHA:444463,Disorder,[Disease],Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome,"[Evans syndrome associated with primary immunodeficiency, TPPII deficiency, TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease, TRIANGLE disease, Tripeptidyl-peptidase II deficiency]","A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia.",[619220],,,,,,,, +GARD:17767,Active,Orphanet,ORPHA:445038,Disorder,[Disease],3-methylglutaconic aciduria type 7,"[3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome, MGA7]","A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia.",[616271],,,,,,,, +GARD:17768,Active,Orphanet,ORPHA:445062,Disorder,[Disease],Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,"[Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome, Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome]","A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy.",[616192],,,,,,,, +GARD:17769,Active,Orphanet,ORPHA:445110,Disorder,[Disease],Limb-girdle muscular dystrophy due to POMK deficiency,[LGMD due to POMK deficiency],"Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.",[616094],,,,,,,, +GARD:17770,Active,Orphanet,ORPHA:447760,Disorder,[Disease],Autosomal recessive spastic paraplegia type 9B,[AR-SPG9B],"A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence.",[616586],,,,,,,, +GARD:17771,Active,Orphanet,ORPHA:447784,Disorder,[Disease],Mitochondrial pyruvate carrier deficiency,,"A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip).",[614741],,,,,,,, +GARD:17772,Active,Orphanet,ORPHA:447877,Subtype of disorder,[Clinical subtype],Polymerase proofreading-related adenomatous polyposis,[PPAP],,"[612591, 615083]",,,,,,,, +GARD:17773,Active,Orphanet,ORPHA:447893,Subtype of disorder,[Clinical subtype],Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,,,[607694],,,,,,,, +GARD:17774,Active,Orphanet,ORPHA:447896,Subtype of disorder,[Clinical subtype],Tremor-ataxia-central hypomyelination syndrome,[TACH syndrome],,[607694],,,,,,,, +GARD:17775,Active,Orphanet,ORPHA:447954,Disorder,[Disease],Combined oxidative phosphorylation defect type 25,[COXPD25],"Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.",[616430],,,,,,,, +GARD:17776,Active,Orphanet,ORPHA:447961,Disorder,[Disease],Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,,"A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described.",[618373],,,,,,,, +GARD:17777,Active,Orphanet,ORPHA:447964,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2V,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation, CMT2V, Hereditary adult-onset painful axonal polyneuropathy]","A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.",[616491],,,,,,,, +GARD:17778,Active,Orphanet,ORPHA:447974,Disorder,[Malformation syndrome],Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,,"A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported.",[616549],,,,,,,, +GARD:17779,Active,Orphanet,ORPHA:447977,Disorder,[Disease],Progressive scapulohumeroperoneal distal myopathy,,"A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.",[616852],,,,,,,, +GARD:17780,Active,Orphanet,ORPHA:448251,Disorder,[Disease],Progressive autosomal recessive ataxia-deafness syndrome,"[Lichtenstein-Knorr syndrome, Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome, SCAR19]","A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.",[616291],,,,,,,, +GARD:17781,Active,Orphanet,ORPHA:448264,Disorder,[Disease],Isolated focal non-epidermolytic palmoplantar keratoderma,,"A rare hereditary palmoplantar keratoderma characterized by focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells in the suprabasal layers, elongation of rete ridges, and sparse lymphocyte infiltration in the dermis.","[616400, 613000]",,,,,,,, +GARD:17782,Active,Orphanet,ORPHA:448267,Disorder,[Malformation syndrome],Regressive spondylometaphyseal dysplasia,,"Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.",[618019],,,,,,,, +GARD:17783,Active,Orphanet,ORPHA:449291,Disorder,[Disease],Symptomatic form of fragile X syndrome in female carriers,,"A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism).",[300624],,,,,,,, +GARD:17784,Active,Orphanet,ORPHA:451612,Disorder,[Morphological anomaly],Familial congenital nasolacrimal duct obstruction,,"A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal draingage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.",[149700],,,,,,,, +GARD:17785,Active,Orphanet,ORPHA:453499,Disorder,[Malformation syndrome],Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome,[Au-Kline syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove, and downturned mouth), congenital heart defects, and variable skeletal abnormalities including hip dysplasia, vertebral anomalies, and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities.",[616580],,,,,,,, +GARD:17786,Active,Orphanet,ORPHA:453521,Disorder,[Disease],Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,"[SCAR17, Spinocerebellar ataxia autosomal recessive type 17]","A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.",[616127],,,,,,,, +GARD:17787,Active,Orphanet,ORPHA:453533,Disorder,[Disease],Polyendocrine-polyneuropathy syndrome,,"A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.",[616113],,,,,,,, +GARD:17788,Active,Orphanet,ORPHA:454700,Group of disorders,[Clinical group],Acquired Creutzfeldt-Jakob disease,,"A group of human prion diseases characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of prions. The group comprises iatrogenic Creutzfeldt-Jakob disease (CJD), which results from transmission of CJD prions in the course of medical procedures or treatments, and variant CJD (transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual).",[123400],,,,,,,, +GARD:17789,Active,Orphanet,ORPHA:454821,Subtype of disorder,[Histopathological subtype],Pleomorphic salivary gland adenoma,,"A rare tumor of salivary glands characterized by a benign, well-circumscribed, slow-growing, painless mass most commonly occurring in the parotid gland (but also the palate, submandibular gland, or nasal septal mucosa), histopathologically composed of epithelial and myoepithelial / stromal components. Possible signs and symptoms depend on the location of the tumor and include facial nerve weakness, mild dysphagia, or unilateral nasal obstruction. Recurrence rates are low, although tumor rupture and spillage have been reported. Malignant transformation may occur in a small percentage of cases.",[181030],,,,,,,, +GARD:17790,Active,Orphanet,ORPHA:454840,Subtype of disorder,[Clinical subtype],NTHL1-related attenuated familial adenomatous polyposis,"[NTHL1-related AFAP, NTHL1-related attenuated FAP]",,[616415],,,,,,,, +GARD:17791,Active,Orphanet,ORPHA:456312,Disorder,[Disease],Infantile multisystem neurologic-endocrine-pancreatic disease,[IMNEPD],"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.",[616263],,,,,,,, +GARD:17792,Active,Orphanet,ORPHA:456328,Disorder,[Disease],X-linked myotubular myopathy-abnormal genitalia syndrome,[Xq28 contiguous gene deletion syndrome],"X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.",[300219],,,,,,,, +GARD:17793,Active,Orphanet,ORPHA:456369,Disorder,[Disease],Polyglucosan body myopathy type 2,,A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.,[616199],,,,,,,, +GARD:17794,Active,Orphanet,ORPHA:457050,Disorder,[Disease],Autosomal dominant mitochondrial myopathy with exercise intolerance,,"A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder, and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.",[616209],,,,,,,, +GARD:17795,Active,Orphanet,ORPHA:457088,Disorder,[Disease],Predisposition to invasive fungal disease due to CARD9 deficiency,[Invasive candidiasis-deep dermatophytosis syndrome],"A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.",[212050],,,,,,,, +GARD:17796,Active,Orphanet,ORPHA:457185,Disorder,[Disease],Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,[COQ4-related neonatal encephalomyopathy],"A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.",[616276],,,,,,,, +GARD:17797,Active,Orphanet,ORPHA:457193,Disorder,[Malformation syndrome],Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome,,"A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.",[616268],,,,,,,, +GARD:17798,Active,Orphanet,ORPHA:457212,Disorder,[Disease],Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,,"A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin.",[616269],,,,,,,, +GARD:17799,Active,Orphanet,ORPHA:457223,Disorder,[Disease],Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,"[Syndromic sensorineural deafness due to COXPD, Syndromic sensorineural hearing loss due to COXPD]","A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.",[617872],,,,,,,, +GARD:178,Active,Orphanet,ORPHA:2563,Disorder,[Malformation syndrome],MOMO syndrome,"[Macrocephaly-obesity-mental disability-ocular abnormalities syndrome, Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome]","MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.",[157980],,,,,MOMO syndrome,TRUE,FALSE,Active +GARD:17800,Active,Orphanet,ORPHA:457240,Disorder,[Malformation syndrome],X-linked intellectual disability-short stature-overweight syndrome,,"X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.",[300957],,,,,,,, +GARD:17801,Active,Orphanet,ORPHA:457265,Disorder,[Disease],Progressive myoclonic epilepsy type 9,"[EPM9, PME type 9, Progressive myoclonic epilepsy due to LMNB2 deficiency, Progressive myoclonus epilepsy type 9]","A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally).",[616540],,,,,,,, +GARD:17802,Active,Orphanet,ORPHA:457279,Disorder,[Malformation syndrome],Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,,"A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.",[616355],,,,,,,, +GARD:17803,Active,Orphanet,ORPHA:457284,Disorder,[Malformation syndrome],Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others.",[616362],,,,,,,, +GARD:17804,Active,Orphanet,ORPHA:457351,Disorder,[Malformation syndrome],Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,[Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome],"A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination.",[616577],,,,,,,, +GARD:17805,Active,Orphanet,ORPHA:457359,Disorder,[Malformation syndrome],Megalencephaly-severe kyphoscoliosis-overgrowth syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum.",[617011],,,,,,,, +GARD:17806,Active,Orphanet,ORPHA:457375,Disorder,[Disease],ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,[Martsolf-like syndrome],"A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal.",[616647],,,,,,,, +GARD:17807,Active,Orphanet,ORPHA:457378,Disorder,[Malformation syndrome],Complex lethal osteochondrodysplasia,"[Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type]","A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated.",[616897],,,,,,,, +GARD:17808,Active,Orphanet,ORPHA:457395,Disorder,[Malformation syndrome],Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described.",[616723],,,,,,,, +GARD:17809,Active,Orphanet,ORPHA:457406,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 4,[MMDS4],"A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.",[616370],,,,,,,, +GARD:17810,Active,Orphanet,ORPHA:458798,Disorder,[Disease],Spinocerebellar ataxia type 41,[SCA41],Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.,[616410],,,,,,,, +GARD:17811,Active,Orphanet,ORPHA:458803,Disorder,[Disease],Spinocerebellar ataxia type 42,[SCA42],"Spinocerebellar ataxia type 42 is a rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.",[616795],,,,,,,, +GARD:17812,Active,Orphanet,ORPHA:459051,Disorder,[Disease],"Spondyloepiphyseal dysplasia, Stanescu type","[SED, Stanescu type]","A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.",[616583],,,,,,,, +GARD:17813,Active,Orphanet,ORPHA:459056,Disorder,[Disease],Autosomal recessive spastic paraplegia type 75,[SPG75],"Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.",[616680],,,,,,,, +GARD:17814,Active,Orphanet,ORPHA:459061,Disorder,[Malformation syndrome],Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,"[Developmental delay-short stature-dysmorphic features-sparse hair syndrome, Loucks-Innes syndrome]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypolastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.",[616901],,,,,,,, +GARD:17815,Active,Orphanet,ORPHA:459070,Disorder,[Malformation syndrome],X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia.",[300998],,,,,,,, +GARD:17816,Active,Orphanet,ORPHA:464282,Disorder,[Disease],Spastic paraplegia-severe developmental delay-epilepsy syndrome,"[SPPRS syndrome, Spastic paraplegia-psychomotor retardation-seizures syndrome]","Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.",[616756],,,,,,,, +GARD:17817,Active,Orphanet,ORPHA:464288,Disorder,[Malformation syndrome],Short stature-brachydactyly-obesity-global developmental delay syndrome,[SBIDDS],"A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.",[617157],,,,,,,, +GARD:17818,Active,Orphanet,ORPHA:464366,Disorder,[Malformation syndrome],NEK9-related lethal skeletal dysplasia,[Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome],"NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.",[617022],,,,,,,, +GARD:17819,Active,Orphanet,ORPHA:464440,Disorder,[Disease],"Primary dystonia, DYT27 type",,"A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.",[616411],,,,,,,, +GARD:17820,Active,Orphanet,ORPHA:464724,Disorder,[Disease],Fever-associated acute infantile liver failure syndrome,,"A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.","[618641, 616483]",,,,,,,, +GARD:17821,Active,Orphanet,ORPHA:464738,Disorder,[Malformation syndrome],Basel-Vanagaite-Smirin-Yosef syndrome,,"A rare, genetic intellectual disability syndrome characterized by severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract, and nevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum, among others.",[616449],,,,,,,, +GARD:17822,Active,Orphanet,ORPHA:464760,Disorder,[Morphological anomaly],Familial cavitary optic disc anomaly,[Familial CODA],"A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss.",[611543],,,,,,,, +GARD:17823,Active,Orphanet,ORPHA:465824,Disorder,[Malformation syndrome],Fetal encasement syndrome,,"Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.",[613630],,,,,,,, +GARD:17824,Active,Orphanet,ORPHA:466688,Disorder,[Malformation syndrome],Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,,"A rare genetic neurological disorder characterized by congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia, and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing, arched, thick, and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares, and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia.",[616819],,,,,,,, +GARD:17825,Active,Orphanet,ORPHA:466703,Disorder,[Disease],TMEM199-CDG,"[CDG syndrome type IIp, CDG-IIp, CDG2P, Carbohydrate deficient glycoprotein syndrome type IIp, Congenital disorder of glycosylation type 2p, Congenital disorder of glycosylation type IIp]","A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.",[616829],,,,,,,, +GARD:17826,Active,Orphanet,ORPHA:466718,Disorder,[Disease],Martinique crinkled retinal pigment epitheliopathy,[MCRPE],"A rare, genetic retinal disease characterized by characteristic ""dried-out soil"" fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.",[617111],,,,,,,, +GARD:17827,Active,Orphanet,ORPHA:466722,Disorder,[Disease],Autosomal recessive spastic paraplegia type 77,[SPG77],"Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.",[617046],,,,,,,, +GARD:17828,Active,Orphanet,ORPHA:466729,Disorder,[Morphological anomaly],Familial patent arterial duct,,"Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.","[607411, 617035, 617039]",,,,,,,, +GARD:17829,Active,Orphanet,ORPHA:466768,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2Z,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation, CMT2Z]","A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps, and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to involve also the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes, as well as learning difficulties.",[616688],,,,,,,, +GARD:17830,Active,Orphanet,ORPHA:466775,Disorder,[Disease],Autosomal recessive Charcot-Marie-Tooth disease type 2X,"[ARCMT2X, Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation, CMT2X]","A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.",[616668],,,,,,,, +GARD:17831,Active,Orphanet,ORPHA:466784,Disorder,[Disease],Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,"[COXPD28, Combined oxidative phosphorylation defect type 28]","A rare mitochondrial disease characterized by a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia, and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis, and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV.",[616794],,,,,,,, +GARD:17832,Active,Orphanet,ORPHA:466791,Disorder,[Malformation syndrome],Macrocephaly-intellectual disability-left ventricular non compaction syndrome,,"Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.",[300967],,,,,,,, +GARD:17833,Active,Orphanet,ORPHA:466794,Disorder,[Disease],Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,"[Autosomal recessive spinocerebellar ataxia type 21, SCAR21]","A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.",[616719],,,,,,,, +GARD:17834,Active,Orphanet,ORPHA:466801,Disorder,[Disease],LIMS2-related limb-girdle muscular dystrophy,"[Autosomal recessive limb-girdle muscular dystrophy type 2W, LGMD type 2W, LGMD2W, LIMS2-related LGM, Limb-girdle muscular dystrophy type 2W]","A subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.",[616827],,,,,,,, +GARD:17835,Active,Orphanet,ORPHA:466806,Disorder,[Disease],Autosomal dominant thrombocytopenia with platelet secretion defect,,"A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others.","[616913, 619130]",,,,,,,, +GARD:17836,Active,Orphanet,ORPHA:466926,Disorder,[Disease],Seizures-scoliosis-macrocephaly syndrome,[SSM syndrome],"Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.",[616682],,,,,,,, +GARD:17837,Active,Orphanet,ORPHA:466934,Disorder,[Disease],VPS11-related autosomal recessive hypomyelinating leukodystrophy,[VPS11-related autosomal recessive hypomyelinating leukoencephalopathy],"A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.",[616683],,,,,,,, +GARD:17838,Active,Orphanet,ORPHA:466943,Disorder,[Malformation syndrome],WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,,"A rare, genetic, syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present.",[616708],,,,,,,, +GARD:17839,Active,Orphanet,ORPHA:466950,Subtype of disorder,[Clinical subtype],Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,,,[616708],,,,,,,, +GARD:17840,Active,Orphanet,ORPHA:467176,Disorder,[Disease],Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,,"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.",[616816],,,,,,,, +GARD:17841,Active,Orphanet,ORPHA:468631,Disorder,[Malformation syndrome],Microcephalic cortical malformations-short stature due to RTTN deficiency,,"A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe intellectual disability, and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe.",[614833],,,,,,,, +GARD:17842,Active,Orphanet,ORPHA:468661,Disorder,[Disease],Autosomal recessive spastic paraplegia type 74,[SPG74],"Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.",[616451],,,,,,,, +GARD:17843,Active,Orphanet,ORPHA:468666,Disorder,[Disease],Isolated generalized anhidrosis with normal sweat glands,,"A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.",[106190],,,,,,,, +GARD:17844,Active,Orphanet,ORPHA:468672,Disorder,[Disease],Colobomatous macrophthalmia-microcornea syndrome,[MACOM syndrome],"A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features.",[602499],,,,,,,, +GARD:17845,Active,Orphanet,ORPHA:468684,Disorder,[Disease],CCDC115-CDG,"[CDG syndrome type IIo, CDG-IIo, CDG2O, Carbohydrate deficient glycoprotein syndrome type IIo, Congenital disorder of glycosylation type 2o, Congenital disorder of glycosylation type IIo]","A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia, and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia, and low serum ceruloplasmin.",[616828],,,,,,,, +GARD:17846,Active,Orphanet,ORPHA:468699,Disorder,[Disease],SLC39A8-CDG,"[CDG syndrome type IIn, CDG-IIn, CDG2N, Carbohydrate deficient glycoprotein syndrome type IIn, Congenital disorder of glycosylation type 2n, Congenital disorder of glycosylation type IIn, SLC39A8 deficiency]","A rare congenital disorder of glycosylation characterized by infantile onset of global developmental delay, severe intellectual disability, hypotonia, and variable additional features including short stature, cranial asymmetry, seizures, strabismus, recurrent infections, and osteopenia, among others. Laboratory analysis reveals decreased blood levels of zinc and manganese, as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialo- and increased asialo-, monosialo-, disialo, and trisialo-transferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy.",[616721],,,,,,,, +GARD:17847,Active,Orphanet,ORPHA:476084,Disorder,[Disease],BVES-related limb-girdle muscular dystrophy,"[Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome, BVES-related LGMD, LGMD type 2X, LGMD2X, Limb-girdle muscular dystrophy 2X]","A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.",[616812],,,,,,,, +GARD:17848,Active,Orphanet,ORPHA:476102,Disorder,[Disease],Hereditary pediatric Behçet-like disease,"[Behçet-like disease due to HA20, Behçet-like disease due to haploinsufficiency of A20]","A rare autosomal dominant autoinflammatory syndrome characterized by early onset systemic inflammation with autoimmune manifestations and more rarely, humoral immune deficiency and increased production of circulating proinflammatory cytokines, variably manifesting with recurrent oral aphthous ulcers, genital ulcers, arthralgia or arthritis, periodic fever, uveitis, and severe gastrointestinal involvement (pain, diarrhea, vomiting, rectal bleeding).",[616744],,,,,,,, +GARD:17849,Active,Orphanet,ORPHA:476113,Disorder,[Disease],Combined immunodeficiency due to TFRC deficiency,"[CID due to TFRC deficiency, TFRC-related combined immunodeficiency]","A rare genetic combined T and B cell immunodeficiency characterized by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhea, severe recurrent infections, and failure to thrive. Laboratory studies reveal hypo- or agammaglobulinemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anemia (resistant to iron supplementation) with low mean corpuscular volume.",[616740],,,,,,,, +GARD:17850,Active,Orphanet,ORPHA:476126,Disorder,[Malformation syndrome],Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features, and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies, among others.",[617061],,,,,,,, +GARD:17851,Active,Orphanet,ORPHA:476394,Disorder,[Disease],PMP2-related Charcot-Marie-Tooth disease type 1,"[PMP2-related CMT1, PMP2-related Charcot-Marie-Tooth neuropathy type 1, PMP2-related hereditary motor and sensory neuropathy type 1]","A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.",[618279],,,,,,,, +GARD:17852,Active,Orphanet,ORPHA:477661,Disorder,[Disease],IL21-related infantile inflammatory bowel disease,[IL21-related infantile IBD],"A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.",[615767],,,,,,,, +GARD:17853,Active,Orphanet,ORPHA:477673,Disorder,[Disease],Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,,"A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients.",[616281],,,,,,,, +GARD:17854,Active,Orphanet,ORPHA:477684,Disorder,[Disease],Combined oxidative phosphorylation defect type 26,[COXPD26],"A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnea, progressive muscle weakness, spasticity, and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia, and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures, and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated, and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes.",[616539],,,,,,,, +GARD:17855,Active,Orphanet,ORPHA:477749,Disorder,[Disease],Pontine autosomal dominant microangiopathy with leukoencephalopathy,[PADMAL],"A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.",[618564],,,,,,,, +GARD:17856,Active,Orphanet,ORPHA:477774,Disorder,[Disease],Combined oxidative phosphorylation defect type 27,[COXPD27],"A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities.",[616672],,,,,,,, +GARD:17857,Active,Orphanet,ORPHA:477787,Disorder,[Disease],Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,"[PLA2G4A-related platelet dysfunction, Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency]","A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcera. Mildly reduced levels of coagulation factor XI have been reported in addition.",[618372],,,,,,,, +GARD:17858,Active,Orphanet,ORPHA:477814,Disorder,[Malformation syndrome],Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,,"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.",[616632],,,,,,,, +GARD:17859,Active,Orphanet,ORPHA:477817,Disorder,[Malformation syndrome],PMP22-RAI1 contiguous gene duplication syndrome,"[17p11.2p12 microduplication syndrome, Dup(17)(p11.2p12), Trisomy 17p11.2-p12, Trisomy 17p11.2p12, Yuan-Harel-Lupski syndrome]","A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed.",[616652],,,,,,,, +GARD:17860,Active,Orphanet,ORPHA:477831,Disorder,[Malformation syndrome],Kosaki overgrowth syndrome,[Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies.",[616592],,,,,,,, +GARD:17861,Active,Orphanet,ORPHA:477857,Disorder,[Disease],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,"[Autosomal recessive MSMD due to complete RORgamma receptor defiency, Autosomal recessive primary immunodeficiency due to RORC mutation]","A rare primary immunodeficiency characterized by increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria, such as mycobacterium bovis. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells.",[616622],,,,,,,, +GARD:17862,Active,Orphanet,ORPHA:477993,Disorder,[Malformation syndrome],Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,[Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome],"Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.",[616728],,,,,,,, +GARD:17863,Active,Orphanet,ORPHA:478029,Disorder,[Disease],Combined oxidative phosphorylation defect type 29,[COXPD29],"A rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.",[616811],,,,,,,, +GARD:17864,Active,Orphanet,ORPHA:478042,Disorder,[Disease],Combined oxidative phosphorylation defect type 30,[COXPD30],"A rare mitochondrial oxidative phosphorylation disorder characterized by neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased, and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle.",[616974],,,,,,,, +GARD:17865,Active,Orphanet,ORPHA:478049,Disorder,[Disease],Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,,"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.",[617228],,,,,,,, +GARD:17866,Active,Orphanet,ORPHA:478664,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 8,"[HSAN8, Hereditary sensory and autonomic neuropathy type VIII]","A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.",[616488],,,,,,,, +GARD:17867,Active,Orphanet,ORPHA:480476,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 5,"[NR1H4 deficiency, PFIC5]",,[617049],,,,,,,, +GARD:17868,Active,Orphanet,ORPHA:480536,Subtype of disorder,[Clinical subtype],MSH3-related attenuated familial adenomatous polyposis,"[MSH3-related AFAP, MSH3-related attenuated FAP, MSH3-related attenuated familial polyposis coli]",,[617100],,,,,,,, +GARD:17869,Active,Orphanet,ORPHA:480682,Disorder,[Disease],POGLUT1-related limb-girdle muscular dystrophy R21,"[Autosomal recessive limb-girdle muscular dystrophy type 2Z, LGMD type 2Z, LGMD2Z, Limb-girdle muscular dystrophy type 2Z, POGLUT1-related LGMD R21]","A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.",[617232],,,,,,,, +GARD:17870,Active,Orphanet,ORPHA:480851,Disorder,[Disease],Hereditary thrombocytopenia with early-onset myelofibrosis,,"A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils.",[616937],,,,,,,, +GARD:17871,Active,Orphanet,ORPHA:480898,Disorder,[Disease],Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,,"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).",[616875],,,,,,,, +GARD:17872,Active,Orphanet,ORPHA:480907,Disorder,[Malformation syndrome],X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal, and cardiovascular anomalies have also been described.",[300966],,,,,,,, +GARD:17873,Active,Orphanet,ORPHA:481152,Disorder,[Malformation syndrome],PYCR2-related microcephaly-progressive leukoencephalopathy,,"PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.",[616420],,,,,,,, +GARD:17874,Active,Orphanet,ORPHA:481662,Disorder,[Disease],Familial Chilblain lupus,,"A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.","[614415, 610448]",,,,,,,, +GARD:17875,Active,Orphanet,ORPHA:481665,Disorder,[Disease],USP18 deficiency,,"A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.",[617397],,,,,,,, +GARD:17876,Active,Orphanet,ORPHA:481986,Subtype of disorder,[Etiological subtype],Familial schizencephaly,,,[269160],,,,,,,, +GARD:17877,Active,Orphanet,ORPHA:482077,Disorder,[Disease],HTRA1-related autosomal dominant cerebral small vessel disease,[HTRA1-related autosomal dominant cerebral angiopathy],"A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosus, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent.",[616779],,,,,,,, +GARD:17878,Active,Orphanet,ORPHA:482601,Disorder,[Disease],Adenylosuccinate synthetase-like 1-related distal myopathy,[ADSSL1-related distal myopathy],"A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.",[617030],,,,,,,, +GARD:17879,Active,Orphanet,ORPHA:485275,Subtype of disorder,[Etiological subtype],Acquired schizencephaly,,,[269160],,,,,,,, +GARD:17880,Active,Orphanet,ORPHA:485350,Disorder,[Disease],CLCN4-related X-linked intellectual disability syndrome,[Raynaud-Claes syndrome],"A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.",[300114],,,,,,,, +GARD:17881,Active,Orphanet,ORPHA:485421,Subtype of disorder,[Etiological subtype],MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,"[Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome, Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome]",,[617086],,,,,,,, +GARD:17882,Active,Orphanet,ORPHA:486811,Disorder,[Disease],Prenatal-onset spinal muscular atrophy with congenital bone fractures,[SMABF],"A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.","[616867, 616866]",,,,,,,, +GARD:17883,Active,Orphanet,ORPHA:486815,Disorder,[Disease],Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,"[Congenital muscular dystrophy, Davignon-Chauveau type]","A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure, and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers, and cap lesions.",[617066],,,,,,,, +GARD:17884,Active,Orphanet,ORPHA:487796,Disorder,[Malformation syndrome],Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome,[Takenouchi-Kosaki syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes.",[616737],,,,,,,, +GARD:17885,Active,Orphanet,ORPHA:487825,Disorder,[Malformation syndrome],Pierpont syndrome,"[Plantar lipomatosis-facial dysmorphism-developmental delay syndrome, Plantar lipomatosis-unusual facies-developmental delay syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly.",[602342],,,,,,,, +GARD:17886,Active,Orphanet,ORPHA:488168,Disorder,[Malformation syndrome],Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,"[SMO deficiency, Sterol-C4-methyl oxidase deficiency]","A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described.",[616834],,,,,,,, +GARD:17887,Active,Orphanet,ORPHA:488191,Disorder,[Disease],Female infertility due to oocyte meiotic arrest,,"A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles.","[619009, 617743, 619176, 619011, 616780]",,,,,,,, +GARD:17888,Active,Orphanet,ORPHA:488197,Disorder,[Disease],Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,,"A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.",[616722],,,,,,,, +GARD:17889,Active,Orphanet,ORPHA:488232,Disorder,[Malformation syndrome],Split-foot malformation-mesoaxial polydactyly syndrome,"[SFMMP, Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome]","A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.",[616890],,,,,,,, +GARD:17890,Active,Orphanet,ORPHA:488280,Disorder,[Disease],14q32 duplication syndrome,"[Dup(14)q(32), Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication, Trisomy 14q32]","14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.",[616604],,,,,,,, +GARD:17891,Active,Orphanet,ORPHA:488333,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2W,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation, CMT2W]","A rare predominantly axonal hereditary motor and sensory neuropathy characterized by a broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment, while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable, ranging from childhood to late adulthood.",[616625],,,,,,,, +GARD:17892,Active,Orphanet,ORPHA:488594,Disorder,[Disease],Autosomal recessive spastic paraplegia type 76,[SPG76],"Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.",[616907],,,,,,,, +GARD:17893,Active,Orphanet,ORPHA:488613,Disorder,[Malformation syndrome],Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,,"A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.",[616973],,,,,,,, +GARD:17894,Active,Orphanet,ORPHA:488618,Disorder,[Malformation syndrome],Transketolase deficiency,"[Short stature-developmental delay-congenital heart defect syndrome, TKT deficiency]","A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).",[617044],,,,,,,, +GARD:17895,Active,Orphanet,ORPHA:488627,Disorder,[Malformation syndrome],Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.",[617051],,,,,,,, +GARD:17896,Active,Orphanet,ORPHA:488632,Disorder,[Malformation syndrome],TBCK-related intellectual disability syndrome,,"TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.",[616900],,,,,,,, +GARD:17897,Active,Orphanet,ORPHA:488635,Disorder,[Disease],Early-onset epilepsy-intellectual disability-brain anomalies syndrome,"[Congenital disorder of glycosylation due to PIGG deficiency, PIGG-CDG]","A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum.",[616917],,,,,,,, +GARD:17898,Active,Orphanet,ORPHA:488642,Disorder,[Malformation syndrome],TELO2-related intellectual disability-neurodevelopmental disorder,[You-Hoover-Fong syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others.",[616954],,,,,,,, +GARD:17899,Active,Orphanet,ORPHA:488647,Disorder,[Disease],DDX41-related hematologic malignancy predisposition syndrome,,"A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies.",[616871],,,,,,,, +GARD:179,Legacy,GARD,,,,,,,,,,,,Macrothrombocytopenia progressive deafness,TRUE,FALSE,Active +GARD:17900,Active,Orphanet,ORPHA:488650,Disorder,[Disease],"Distal myopathy, Tateyama type",,"Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.",[614321],,,,,,,, +GARD:17901,Active,Orphanet,ORPHA:493348,Disorder,[Disease],Vibratory angioedema,,"Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.",[125630],,,,,,,, +GARD:17902,Active,Orphanet,ORPHA:494344,Disorder,[Malformation syndrome],RERE-related neurodevelopmental syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.",[616975],,,,,,,, +GARD:17903,Active,Orphanet,ORPHA:494439,Disorder,[Malformation syndrome],Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,[Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.",[617763],,,,,,,, +GARD:17904,Active,Orphanet,ORPHA:494444,Disorder,[Disease],DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,[DIAPH1-related sensorineural deafness-thrombocytopenia syndrome],"A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.",[124900],,,,,,,, +GARD:17905,Active,Orphanet,ORPHA:494526,Disorder,[Disease],Infantile-onset generalized dyskinesia with orofacial involvement,[Infantile-onset orofacial-trunk-limbs dyskinesia],"A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.",[616921],,,,,,,, +GARD:17906,Active,Orphanet,ORPHA:494541,Disorder,[Disease],Childhood-onset benign chorea with striatal involvement,,"A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported.",[616922],,,,,,,, +GARD:17907,Active,Orphanet,ORPHA:494547,Disorder,[Disease],Squamous cell carcinoma of the hypopharynx,,"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the piriform sinus, less frequently the posterior pharyngeal wall or the postcricoid area. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with odynophagia, dysphagia, signs and symptoms related to a neck mass, voice changes, otalgia, and constitutional symptoms.",[275355],,,,,,,, +GARD:17908,Active,Orphanet,ORPHA:494550,Disorder,[Disease],Squamous cell carcinoma of the larynx,,"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the supraglottis or glottis. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with hoarseness, dyspnea, stridor, dysphagia, hemoptysis, or odynophagia.",[275355],,,,,,,, +GARD:17909,Active,Orphanet,ORPHA:495274,Disorder,[Disease],Charcot-Marie-Tooth disease type 2T,"[AR-CMT2T, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T, CMT2T]","A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.",[617017],,,,,,,, +GARD:17910,Active,Orphanet,ORPHA:495844,Disorder,[Disease],C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,"[C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy, Hypomyelinating leukodystrophy due to hikeshi deficiency]","A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.",[616881],,,,,,,, +GARD:17911,Active,Orphanet,ORPHA:496641,Disorder,[Malformation syndrome],Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,,"A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies.",[617193],,,,,,,, +GARD:17912,Active,Orphanet,ORPHA:496686,Disorder,[Disease],Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,,"A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.",[617114],,,,,,,, +GARD:17913,Active,Orphanet,ORPHA:496751,Disorder,[Malformation syndrome],EVEN-plus syndrome,[Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed.",[616854],,,,,,,, +GARD:17914,Active,Orphanet,ORPHA:496756,Disorder,[Disease],Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,,"A rare genetic neurodegenerative disease characterized by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life.",[617207],,,,,,,, +GARD:17915,Active,Orphanet,ORPHA:496790,Disorder,[Disease],Ocular anomalies-axonal neuropathy-developmental delay syndrome,[Harel-Yoon syndrome],"A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.",[617183],,,,,,,, +GARD:17916,Active,Orphanet,ORPHA:497757,Disorder,[Disease],MME-related autosomal dominant Charcot Marie Tooth disease type 2,"[MME-related autosomal dominant CMT2, MME-related autosomal dominant hereditary motor and sensory neuropathy type 2]","A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.",[617017],,,,,,,, +GARD:17917,Active,Orphanet,ORPHA:497764,Disorder,[Disease],Spinocerebellar ataxia type 43,[SCA43],"Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.",[617017],,,,,,,, +GARD:17918,Active,Orphanet,ORPHA:497906,Disorder,[Disease],Childhood-onset basal ganglia degeneration syndrome,[Lenk-Ploski syndrome],"A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome.",[617054],,,,,,,, +GARD:17919,Active,Orphanet,ORPHA:498497,Disorder,[Malformation syndrome],Short rib-polydactyly syndrome type 5,,,[614091],,,,,,,, +GARD:17920,Active,Orphanet,ORPHA:500055,Disorder,[Malformation syndrome],16p13.2 microdeletion syndrome,"[Del(16)(p13.2), Monosomy 16p13.2]","A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.",[616863],,,,,,,, +GARD:17921,Active,Orphanet,ORPHA:500095,Disorder,[Malformation syndrome],Tall stature-intellectual disability-renal anomalies syndrome,[Thauvin-Robinet-Faivre syndrome],"A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism.",[617107],,,,,,,, +GARD:17922,Active,Orphanet,ORPHA:500135,Disorder,[Malformation syndrome],Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,[MARCH syndrome],"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells.",[236500],,,,,,,, +GARD:17923,Active,Orphanet,ORPHA:500144,Disorder,[Malformation syndrome],Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,,"A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus.",[617669],,,,,,,, +GARD:17924,Active,Orphanet,ORPHA:500159,Disorder,[Malformation syndrome],Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities.",[617751],,,,,,,, +GARD:17925,Active,Orphanet,ORPHA:500166,Subtype of disorder,[Etiological subtype],SIN3A-related intellectual disability syndrome due to a point mutation,,,[613406],,,,,,,, +GARD:17926,Active,Orphanet,ORPHA:500188,Disorder,[Malformation syndrome],X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,,"A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent.",[301018],,,,,,,, +GARD:17927,Active,Orphanet,ORPHA:500464,Disorder,[Disease],Squamous cell carcinoma of the nasal cavity and paranasal sinuses,[Squamous cell carcinoma of the nasal cavity and sinuses],"A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia, and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk HPV is most frequently associated with the non-keratinizing type.",[275355],,,,,,,, +GARD:17928,Active,Orphanet,ORPHA:500478,Disorder,[Disease],Squamous cell carcinoma of the oropharynx,,"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, which may arise in association with high-risk HPV in a subset of cases. HPV-positive tumors have a strong predilection for the base of tongue and the palatine tonsils and typically present at an advanced clinical stage with cervical lymphadenopathy. They are associated with significantly better prognosis than HPV-negative tumors, which more commonly involve the soft palate, manifest as sore throat and difficulty in swallowing or a neck mass, and occur in older patients. Smoking and alcohol consumption are important risk factors.",[275355],,,,,,,, +GARD:17929,Active,Orphanet,ORPHA:500481,Subtype of disorder,[Histopathological subtype],Squamous cell carcinoma of salivary glands,,,[275355],,,,,,,, +GARD:17930,Active,Orphanet,ORPHA:500545,Disorder,[Disease],Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,,"A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.",[617393],,,,,,,, +GARD:17931,Active,Orphanet,ORPHA:500548,Disorder,[Malformation syndrome],Osteosclerotic metaphyseal dysplasia,,"A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends, and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.",[615198],,,,,,,, +GARD:17932,Active,Orphanet,ORPHA:502363,Disorder,[Disease],Squamous cell carcinoma of the oral cavity,,"A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (such as smoking, alcohol consumption, and tobacco chewing). Patients present with a variably white, erythematous, mixed, nodular, or ulcerated lesion, which may cause discomfort, pain, or reduced mobility of the tongue. The tumor is aggressive with a propensity for local invasion and early lymph node metastasis.",[275355],,,,,,,, +GARD:17933,Active,Orphanet,ORPHA:502366,Disorder,[Disease],Squamous cell carcinoma of the lip,,"A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, most commonly arising at the vermilion border of the lower lip. Patients present with a usually asymptomatic lesion of variable appearance, such as ulceration, a focus of whitish thickening, a dry atrophic area, or an area of persistent chapping and localized flaking and crusting. Carcinomas of the lower lip tend to progress slowly (as opposed to those of the upper lip). Invasion of adjacent structures, including perineural spread, is typical, with a variable rate of metastasis, depending on the location.",[275355],,,,,,,, +GARD:17934,Active,Orphanet,ORPHA:502423,Disorder,[Disease],Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,[Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome],"A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy.",[617675],,,,,,,, +GARD:17935,Active,Orphanet,ORPHA:502434,Disorder,[Malformation syndrome],STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).",[617635],,,,,,,, +GARD:17936,Active,Orphanet,ORPHA:502444,Disorder,[Disease],Alkaline ceramidase 3 deficiency,"[ACER3-related early childhood-onset progressive leukodystrophy, Leukodystrophy due to alkaline ceramidase 3 deficiency]","A rare genetic leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature, and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination.",[617762],,,,,,,, +GARD:17937,Active,Orphanet,ORPHA:504476,Disorder,[Disease],Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,"[CABV syndrome, CANVAS, Cerebellar ataxia with bilateral vestibulopathy syndrome]","A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.",[614575],,,,,,,, +GARD:17938,Active,Orphanet,ORPHA:504523,Disorder,[Disease],Severe combined immunodeficiency due to LAT deficiency,[SCID due to LAT deficiency],"A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.",[617514],,,,,,,, +GARD:17939,Active,Orphanet,ORPHA:504530,Disorder,[Disease],Combined immunodeficiency due to Moesin deficiency,"[CID due to Moesin deficiency, MSN-related combined immunodeficiency, X-linked Moesin-associated immunodeficiency]","A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia.",[300988],,,,,,,, +GARD:17940,Active,Orphanet,ORPHA:505216,Disorder,[Disease],3-methylglutaconic aciduria type 9,"[3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome, MGA9]","A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.",[617698],,,,,,,, +GARD:17941,Active,Orphanet,ORPHA:505227,Disorder,[Disease],Combined immunodeficiency due to GINS1 deficiency,"[CID due to GINS1 deficiency, Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia, Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia]","A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism.",[617827],,,,,,,, +GARD:17942,Active,Orphanet,ORPHA:505237,Disorder,[Malformation syndrome],Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay, intellectual disability, early-onset seizures, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip, and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities, or cortical atrophy.",[617452],,,,,,,, +GARD:17943,Active,Orphanet,ORPHA:505242,Disorder,[Disease],Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,"[Cerebrorenal syndrome, Perez type]","A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalemia.",[617595],,,,,,,, +GARD:17944,Active,Orphanet,ORPHA:505248,Disorder,[Malformation syndrome],Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,[Mucopolysaccharidosis-like plus disease],"A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.",[617303],,,,,,,, +GARD:17945,Active,Orphanet,ORPHA:506307,Disorder,[Malformation syndrome],Stromme syndrome,"[Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome, Jejunal atresia-microcephaly-ocular anomalies syndrome]","A rare multiple congenital anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic, edematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb edema, thrombocytopenia) are variably present. Rarely, cases without intestinal atresia, microcephaly or developmental delay can be found. Severe lethal cases have also been reported.",[243605],,,,,,,, +GARD:17946,Active,Orphanet,ORPHA:506353,Disorder,[Disease],Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,[Autosomal recessive complex SPG due to Kennedy pathway dysfunction],"A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions.",[618768],,,,,,,, +GARD:17947,Active,Orphanet,ORPHA:506358,Disorder,[Malformation syndrome],Gabriele-de Vries syndrome,[YY1 haploinsufficiency syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities, and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac, and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety).",[617557],,,,,,,, +GARD:17948,Active,Orphanet,ORPHA:508498,Disorder,[Malformation syndrome],Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.",[615583],,,,,,,, +GARD:17949,Active,Orphanet,ORPHA:508512,Disorder,[Disease],Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,,"A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.",[618097],,,,,,,, +GARD:17950,Active,Orphanet,ORPHA:508523,Disorder,[Disease],Hyperphenylalaninemia due to DNAJC12 deficiency,[Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia],"A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.",[617384],,,,,,,, +GARD:17951,Active,Orphanet,ORPHA:508529,Disorder,[Disease],Intermediate epidermolysis bullosa simplex with cardiomyopathy,[Intermediate EBS with cardiomyopathy],"A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes.",[617294],,,,,,,, +GARD:17952,Active,Orphanet,ORPHA:513436,Disorder,[Disease],Autosomal recessive spastic paraplegia type 78,[SPG78],"A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.",[617225],,,,,,,, +GARD:17953,Active,Orphanet,ORPHA:513456,Disorder,[Disease],Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,[Skraban-Deardorff syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, seizures, abnormal gait, and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva, and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems, and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles.",[617616],,,,,,,, +GARD:17954,Active,Orphanet,ORPHA:519388,Disorder,[Malformation syndrome],Autosomal recessive anterior segment dysgenesis,,"A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.",[617319],,,,,,,, +GARD:17955,Active,Orphanet,ORPHA:521258,Disorder,[Malformation syndrome],Xq25 microduplication syndrome,"[Dup(X)(q25), Xq25 microtriplication]","A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.",[300979],,,,,,,, +GARD:17956,Active,Orphanet,ORPHA:521305,Disorder,[Disease],Proximal myopathy with focal depletion of mitochondria,,"A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.",[600706],,,,,,,, +GARD:17957,Active,Orphanet,ORPHA:521390,Disorder,[Malformation syndrome],Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,[SINO syndrome],"A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachyplagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported.",[617296],,,,,,,, +GARD:17958,Active,Orphanet,ORPHA:521406,Disorder,[Disease],Dystonia-parkinsonism-hypermanganesemia syndrome,,"A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.",[617013],,,,,,,, +GARD:17959,Active,Orphanet,ORPHA:521414,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2DD,"[ATP1A1-related CMT2, ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2, CMT2DD]","A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype.",[618036],,,,,,,, +GARD:17960,Active,Orphanet,ORPHA:521426,Disorder,[Malformation syndrome],PLAA-associated neurodevelopmental disorder,[PLAAND],"A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy.",[617527],,,,,,,, +GARD:17961,Active,Orphanet,ORPHA:521438,Disorder,[Malformation syndrome],Congenital vertebral-cardiac-renal anomalies syndrome,[Congenital NAD deficiency disorder],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.","[618845, 617660, 617661]",,,,,,,, +GARD:17962,Active,Orphanet,ORPHA:522077,Disorder,[Disease],Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,[SYT1-related neurodevelopmental disorder],"A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.",[618218],,,,,,,, +GARD:17963,Active,Orphanet,ORPHA:527450,Disorder,[Malformation syndrome],Severe myopia-generalized joint laxity-short stature syndrome,,"A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss.",[617662],,,,,,,, +GARD:17964,Active,Orphanet,ORPHA:527497,Disorder,[Disease],NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,"[Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia, SPAX8]","A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss.",[617560],,,,,,,, +GARD:17965,Active,Orphanet,ORPHA:528084,Disorder,[Disease],Non-specific syndromic intellectual disability,[Complex neurodevelopmental disorder],"A rare genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems.","[618569, 619099, 619072, 619000, 618971, 309590, 618659, 619320, 618914, 619264, 619243, 618430, 619091, 619244, 606053, 619092, 619005, 619056, 619268, 301029, 619239, 618906, 618470, 618653, 619314, 619306, 619031, 619125, 619083, 618922, 618342, 618292, 618974, 619076, 618009, 619157, 617755, 619149]",,,,,,,, +GARD:17966,Active,Orphanet,ORPHA:528091,Disorder,[Disease],Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,,"A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported.",[617021],,,,,,,, +GARD:17967,Active,Orphanet,ORPHA:528105,Disorder,[Disease],Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,[HELIX syndrome],"A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria.",[617671],,,,,,,, +GARD:17968,Active,Orphanet,ORPHA:529574,Disorder,[Malformation syndrome],Duane retraction syndrome with congenital deafness,"[DRS with deafness, DRS with hearing loss, DURS with deafness, DURS with hearing loss, Duane retraction syndrome with congenital hearing loss]","A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.",[617041],,,,,,,, +GARD:17969,Active,Orphanet,ORPHA:529665,Disorder,[Malformation syndrome],Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,[GPAA1-related biosynthesis defect],"A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.",[617810],,,,,,,, +GARD:17970,Active,Orphanet,ORPHA:529965,Disorder,[Malformation syndrome],Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,[Pilarowski-Bjornsson syndrome],"A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated.",[617682],,,,,,,, +GARD:17971,Active,Orphanet,ORPHA:529970,Subtype of disorder,[Clinical subtype],Male infertility due to acephalic spermatozoa,[Acephalic spermatozoa syndrome],,"[618112, 617187]",,,,,,,, +GARD:17972,Active,Orphanet,ORPHA:530995,Disorder,[Disease],Mixed phenotype acute leukemia,[MPAL],"A group of rare acute leukemias of ambiguous lineage characterized by the presence of separate populations of blasts of more than one lineage (bilineal), a single population of blasts coexpressing antigens of more than one lineage (biphenotypic), or a combination thereof. The diagnosis relies on immunophenotyping, the T-cell component being characterized by strong expression of cytoplasmic CD3, usually in the absence of surface CD3, the B-cell component expressing CD19, almost always together with CD10, cCD79a, CD22, or PAX5, while the most specific hallmark of the myeloid component is the presence of myeloperoxidase in the blast cytoplasm.",[601626],,,,,,,, +GARD:17973,Active,Orphanet,ORPHA:535458,Subtype of disorder,[Etiological subtype],Familial GPIHBP1 deficiency,[Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency],,[615947],,,,,,,, +GARD:17974,Active,Orphanet,ORPHA:536467,Subtype of disorder,[Clinical subtype],B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,"[B3GALT6-related spEDS, B3GALT6-related spondylodysplastic EDS, Beta3GalT6-deficient EDS, Ehlers-Danlos syndrome progeroid type 2, spEDS-B3GALT6]","A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm.",[615349],,,,,,,, +GARD:17975,Active,Orphanet,ORPHA:536532,Disorder,[Disease],Classical-like Ehlers-Danlos syndrome type 2,"[AEBP1-related EDS, AEBP1-related Ehlers-Danlos syndrome, Classical-like EDS type 2, clEDS type 2]","A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive.",[618000],,,,,,,, +GARD:17976,Active,Orphanet,ORPHA:538096,Disorder,[Disease],Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy,,"A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.",[604431],,,,,,,, +GARD:17977,Active,Orphanet,ORPHA:538574,Disorder,[Disease],Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,[Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome],"A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near‐normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy.",[148360],,,,,,,, +GARD:17978,Active,Orphanet,ORPHA:538958,Disorder,[Disease],Combined immunodeficiency due to CD70 deficiency,[CID due to CD70 deficiency],"A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.",[618261],,,,,,,, +GARD:17979,Active,Orphanet,ORPHA:538963,Disorder,[Disease],Combined immunodeficiency due to ITK deficiency,"[Autosomal recessive lymphoproliferative disease due to ITK deficiency, ITK deficiency]","A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis, and smooth muscle tumor. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease.",[613011],,,,,,,, +GARD:1798,Legacy,GARD,,,,,,,,,,,,Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:17980,Active,Orphanet,ORPHA:541423,Disorder,[Disease],Growth delay-intellectual disability-hepatopathy syndrome,,"A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.",[617093],,,,,,,, +GARD:17981,Active,Orphanet,ORPHA:542301,Disorder,[Disease],Combined immunodeficiency due to CARMIL2 deficiency,[Combined immunodeficiency due to RLTPR deficiency],"A rare immune dysregulation disease with immunodeficiency characterized by infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumors have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.",[618131],,,,,,,, +GARD:17982,Active,Orphanet,ORPHA:542306,Disorder,[Disease],GNB5-related intellectual disability-cardiac arrhythmia syndrome,,"A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.",[617173],,,,,,,, +GARD:17983,Active,Orphanet,ORPHA:542585,Disorder,[Disease],Auditory neuropathy-optic atrophy syndrome,,"A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.",[617717],,,,,,,, +GARD:17984,Active,Orphanet,ORPHA:542657,Disorder,[Disease],Isolated hyperchlorhidrosis,[Carbonic anhydrase XII deficiency],"A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations.",[143860],,,,,,,, +GARD:17985,Active,Orphanet,ORPHA:544469,Disorder,[Malformation syndrome],PRUNE1-related neurological syndrome,,"A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.",[617481],,,,,,,, +GARD:17986,Active,Orphanet,ORPHA:544472,Subtype of disorder,[Etiological subtype],Atypical hemolytic uremic syndrome with complement gene abnormality,"[Atypical HUS with complement gene abnormality, aHUS with complement gene abnormality]",,"[235400, 615008, 612922, 612926, 612923, 612924, 609814, 612925]",,,,,,,, +GARD:17987,Active,Orphanet,ORPHA:544488,Disorder,[Disease],Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,"[Bachmann-Bupp syndrome, Ornithine decarboxylase deficiency]","A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces.",[619075],,,,,,,, +GARD:17988,Active,Orphanet,ORPHA:544503,Disorder,[Disease],RNF13-related severe early-onset epileptic encephalopathy,[RNF13-related severe EOEE],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.",[618379],,,,,,,, +GARD:17989,Active,Orphanet,ORPHA:544602,Disorder,[Disease],Congenital myopathy with reduced type 2 muscle fibers,"[Congenital myopathy with fast-twitch fiber atrophy, Congenital myopathy with reduced type II muscle fibers, Congenital myopathy with type 2 muscle fiber atrophy, Congenital myopathy with type II fiber atrophy]","A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal.",[618414],,,,,,,, +GARD:1799,Legacy,GARD,,,,,,,,,,,,Delta-sarcoglycanopathy,TRUE,FALSE,Active +GARD:17990,Active,Orphanet,ORPHA:555402,Disorder,[Disease],NAD(P)HX dehydratase deficiency,[CARKD deficiency],"A rare neurometabolic disease characterized by infantile onset of repeated episodes of developmental regression and neurodegeneration, often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia, and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy, and pancytopenia have been reported in association. The condition is fatal in the first years of life.",[618321],,,,,,,, +GARD:17991,Active,Orphanet,ORPHA:555407,Disorder,[Disease],NAD(P)HX epimerase deficiency,[Apolipoprotein A-I binding protein deficiency],"A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.",[617186],,,,,,,, +GARD:17992,Active,Orphanet,ORPHA:556955,Disorder,[Disease],Pancreatic agenesis-holoprosencephaly syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder.",[618500],,,,,,,, +GARD:17993,Active,Orphanet,ORPHA:557003,Disorder,[Disease],Oculocerebrodental syndrome,[Oculo-cerebro-dental syndrome],"A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.",[618440],,,,,,,, +GARD:17994,Active,Orphanet,ORPHA:557064,Disorder,[Disease],Neonatal epileptic encephalopathy due to glutaminase deficiency,,"A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.",[618328],,,,,,,, +GARD:17995,Active,Orphanet,ORPHA:562509,Disorder,[Disease],Heme oxygenase-1 deficiency,[HO-1 deficiency],"A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism, and hepatomegaly.",[614034],,,,,,,, +GARD:17996,Active,Orphanet,ORPHA:562538,Disorder,[Disease],Autosomal recessive extra-oral halitosis,"[MTO-deficiency, Methanethiol oxidase deficiency]",,[618148],,,,,,,, +GARD:17997,Active,Orphanet,ORPHA:562559,Disorder,[Malformation syndrome],Anterior maxillary protrusion-strabismus-intellectual disability syndrome,[MRAMS syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition.",[613671],,,,,,,, +GARD:17998,Active,Orphanet,ORPHA:562569,Disorder,[Malformation syndrome],TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome,,"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.",[618316],,,,,,,, +GARD:17999,Active,Orphanet,ORPHA:565624,Disorder,[Disease],Combined oxidative phosphorylation defect type 39,"[COXPD39, GFM2-related combined oxidative phosphorylation defect]",,[618397],,,,,,,, +GARD:180,Active,Orphanet,ORPHA:182050,Disorder,[Disease],MYH9-related disease,"[MYH9-RD, MYH9-related disorder, MYH9-related syndrome, MYH9-related syndromic thrombocytopenia]","MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.",[155100],,,,,MYH9 related thrombocytopenia,TRUE,FALSE,Active +GARD:18000,Active,Orphanet,ORPHA:565788,Disorder,[Disease],Infantile inflammatory bowel disease with neurological involvement,,"A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported.",[618213],,,,,,,, +GARD:18001,Active,Orphanet,ORPHA:565858,Disorder,[Malformation syndrome],Craniosynostosis-microretrognathia-severe intellectual disability syndrome,,,[618265],,,,,,,, +GARD:18002,Active,Orphanet,ORPHA:566243,Disorder,[Disease],Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,"[RTHb, Resistance to thyroid hormone beta, Resistance to thyroid hormone due to a mutation in TRb]","A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.","[188570, 274300, 145650]",,,,,,,, +GARD:18003,Active,Orphanet,ORPHA:567548,Disorder,[Clinical syndrome],Idiopathic steroid-resistant nephrotic syndrome,[Idiopathic SRNS],"A rare, idiopathic nephrotic syndrome characterized by the triad of proteinuria, hypoalbuminemia and edema in patients who do not respond, or only partially respond, to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy.",[619263],,,,,,,, +GARD:18004,Active,Orphanet,ORPHA:569290,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 6,[PMPCB deficiency],,[617954],,,,,,,, +GARD:18005,Active,Orphanet,ORPHA:570422,Disorder,[Disease],Galactose mutarotase deficiency,"[GALM deficiency, Galactosemia type 4]","A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet.",[618881],,,,,,,, +GARD:18006,Active,Orphanet,ORPHA:570491,Disorder,[Disease],QRSL1-related combined oxidative phosphorylation defect,[QRSL1-related COXPD],"A rare mitochondrial disease characterized by prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss, and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported.",[618835],,,,,,,, +GARD:18007,Active,Orphanet,ORPHA:572013,Disorder,[Malformation syndrome],Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,,,[618325],,,,,,,, +GARD:18008,Active,Orphanet,ORPHA:572354,Subtype of disorder,[Clinical subtype],Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,"[BPES type 1, Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure]",,[110100],,,,,,,, +GARD:18009,Active,Orphanet,ORPHA:572385,Subtype of disorder,[Clinical subtype],Brachydactyly type B1,,"A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands.",[113000],,,,,,,, +GARD:18010,Active,Orphanet,ORPHA:572543,Subtype of disorder,[Clinical subtype],RFVT2-related riboflavin transporter deficiency,"[RTD2, Riboflavin transporter deficiency 2]",,[211530],,,,,,,, +GARD:18011,Active,Orphanet,ORPHA:572768,Subtype of disorder,[Clinical subtype],Microcephaly-micromelia syndrome,[MIMIS],,[251230],,,,,,,, +GARD:18012,Active,Orphanet,ORPHA:572798,Disorder,[Disease],WARS2-related combined oxidative phosphorylation defect,[Mitochondrial tryptophanyl-tRNA synthetase deficiency],,[617710],,,,,,,, +GARD:18013,Active,Orphanet,ORPHA:576283,Subtype of disorder,[Etiological subtype],SATB2-associated syndrome due to a pathogenic variant,[SATB2-associated syndrome due to a point mutation],,[612313],,,,,,,, +GARD:18014,Active,Orphanet,ORPHA:576349,Disorder,[Disease],NLRC4-related familial cold autoinflammatory syndrome,"[FCAS4, Familial cold autoinflammatory syndrome 4, NLRC4-related familial cold urticaria]",,[616115],,,,,,,, +GARD:18015,Active,Orphanet,ORPHA:580940,Disorder,[Malformation syndrome],QRICH1-related intellectual disability-chondrodysplasia syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip, and low-set, cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported.",[617982],,,,,,,, +GARD:18016,Active,Orphanet,ORPHA:589435,Disorder,[Malformation syndrome],Spondylometaphyseal dysplasia-corneal dystrophy syndrome,[SMD-corneal dystrophy syndrome],,[618961],,,,,,,, +GARD:18017,Active,Orphanet,ORPHA:597733,Disorder,[Disease],Oculocutaneous albinism type 8,[OCA8],,[619165],,,,,,,, +GARD:18018,Active,Orphanet,ORPHA:597874,Disorder,[Disease],MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome,,,[618367],,,,,,,, +GARD:18019,Active,Orphanet,ORPHA:598603,Disorder,[Malformation syndrome],Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome,[FHEIG syndrome],,[618381],,,,,,,, +GARD:1802,Active,Orphanet,ORPHA:283,Disorder,[Disease],Demodicidosis,[Demodicosis],"Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.",,,,,,Demodicidosis,TRUE,FALSE,Active +GARD:18020,Active,Orphanet,ORPHA:603448,Disorder,[Malformation syndrome],Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,[CIMDAG syndrome],,[619273],,,,,,,, +GARD:18021,Active,Orphanet,ORPHA:603494,Disorder,[Malformation syndrome],Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome,[COMMAD syndrome],,[617306],,,,,,,, +GARD:18022,Active,Orphanet,ORPHA:610569,Disorder,[Disease],KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome,[Alkuraya-Kucinskas syndrome],,[617822],,,,,,,, +GARD:18023,Active,Orphanet,ORPHA:610573,Disorder,[Disease],CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome,,,[619173],,,,,,,, +GARD:18024,Active,Orphanet,ORPHA:611201,Disorder,[Malformation syndrome],Oculogastrointestinal-neurodevelopmental syndrome,[OGIN Syndrome],,[619318],,,,,,,, +GARD:18025,Active,Orphanet,ORPHA:611207,Disorder,[Clinical syndrome],Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome,[SHILCA syndrome],,[619260],,,,,,,, +GARD:18026,Active,Orphanet,ORPHA:611216,Disorder,[Disease],Aplastic anemia-intellectual disability-dwarfism syndrome,[AMeD syndrome],,[619151],,,,,,,, +GARD:18027,Active,Orphanet,ORPHA:611223,Disorder,[Malformation syndrome],EN1-related dorsoventral syndrome,"[ENDOVE syndrome, ENDOVES]",,"[619218, 619217]",,,,,,,, +GARD:18028,Active,Orphanet,ORPHA:611237,Disorder,[Disease],Parkinsonism with polyneuropathy,,,[619279],,,,,,,, +GARD:18029,Active,Orphanet,ORPHA:611247,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 11,"[PCH11, Pontocerebellar hypoplasia due to TBC1D23]",,[617695],,,,,,,, +GARD:18030,Active,Orphanet,ORPHA:611256,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 12,"[COASY-related pontocerebellar hypoplasia, PCH12]",,[618266],,,,,,,, +GARD:18031,Active,Orphanet,ORPHA:613267,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 13,[PCH13],,[618606],,,,,,,, +GARD:18032,Active,Orphanet,ORPHA:613274,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 14,[PCH14],,"[619302, 619301]",,,,,,,, +GARD:18033,Active,Orphanet,ORPHA:615938,Disorder,[Clinical syndrome],Spastic paraparesis-cataracts-speech delay syndrome,[Fatty acyl-CoA reductase 1 superactivity],,[619338],,,,,,,, +GARD:18034,Active,Orphanet,ORPHA:615954,Disorder,[Clinical syndrome],Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome,"[Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome, Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome]",,[618810],,,,,,,, +GARD:18035,Active,Orphanet,ORPHA:615964,Disorder,[Disease],Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate,"[Acute reversible leukoencephalopathy due to SLC13A3 deficiency, Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency]",,[618384],,,,,,,, +GARD:18036,Active,Orphanet,ORPHA:615983,Subtype of disorder,[Etiological subtype],Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation,,,[618810],,,,,,,, +GARD:18037,Active,Orphanet,ORPHA:615986,Subtype of disorder,[Etiological subtype],Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster,[Lethal 1p36.33 deletion syndrome],,[618810],,,,,,,, +GARD:18038,Active,Orphanet+OMIM,OMIM:606721,Subtype of disorder,[Disease subtype],"Lipodystrophy, familial partial, type 7","[Partial lipodystrophy, congenital cataracts, with or without neurodegeneration syndrome]","Lipodystrophies are rare disorders characterized by loss of body fat from various regions and predisposition to metabolic complications of insulin resistance and lipid abnormalities. FPLD7 is an autosomal dominant disorder with a highly variable phenotype. Additional features, including early-onset cataracts and later onset of spasticity of the lower limbs, have been noted in some patients (summary by {3:Garg et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see {151660}.",[606721],[528],[Congenital generalized lipodystrophy],[13388],,,,, +GARD:18039,Active,Orphanet+OMIM,OMIM:233300,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 1,"[gonadal dysgenesis, xx type, xx gonadal dysgenesis, ovarian failure, hypergonadotropic, Ovarian dysgenesis, hypergonadotropic, autosomal recessive, ovarian dysgenesis, hypergonadotropic, with normal karyotype]","Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea ({16:Timmreck and Reindollar, 2003}).\n\n<Subhead> Genetic Heterogeneity of Ovarian Dysgenesis\n\nEven in its isolated form, 46,XX ovarian dysgenesis is etiologically heterogeneous. See ODG2 ({300510}), caused by mutation in the BMP15 gene ({300247}); ODG3 ({614324}), caused by mutation in the PSMC3IP gene ({608665}); ODG4 ({616185}), caused by mutation in the MCMDC1 gene ({610098}); ODG5 ({617690}), caused by mutation in the SOHLH1 gene ({610224}); ODG6 ({618078}), caused by mutation in the NUP107 gene ({607617}); ODG7 ({618117}), caused by mutation in the MRPS22 gene ({605810}); ODG8 ({618187}), caused by mutation in the ESR2 gene ({601663}); ODG9 ({619665}), caused by mutation in the SPIDR gene ({615384}); and ODG10 ({619834}), caused by mutation in the ZSWIM7 gene ({614535}).\n\nSee also ovarian dysgenesis with sensorineural deafness, or Perrault syndrome ({233400}).",[233300],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:1804,Active,Orphanet,ORPHA:93622,Subtype of disorder,[Clinical subtype],Dent disease type 1,,"A rare X-linked monogenic renal tubular disease, characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is absent.","[310468, 300009, 308990, 300554]",,,,,Dent disease 1,TRUE,FALSE,Retired +GARD:18040,Active,Orphanet+OMIM,OMIM:300510,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 2,"[Ovarian dysgenesis, hypergonadotropic, x-linked, ovarian failure, hypergonadotropic, due to ovarian dysgenesis]","Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea ({8:Timmreck and Reindollar, 2003}). Most cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development ({9:Zinn et al., 1998}; {7:Simpson and Rajkovic, 1999}; {5:Marozzi et al., 2000}).",[300510],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18041,Active,Orphanet+OMIM,OMIM:614324,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 3,,,[614324],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18042,Active,Orphanet+OMIM,OMIM:618078,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 6,,"Ovarian dysgenesis-6 is characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and absence of ovarian tissue on imaging studies. Males appear to be unaffected ({1:Weinberg-Shukron et al., 2015}).\n\nFor a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 ({233300}).",[618078],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18043,Active,Orphanet+OMIM,OMIM:618117,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 7,,"Ovarian dysgenesis-7 (ODG7) is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles ({1:Chen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 ({233300}).",[618117],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18044,Active,Orphanet+OMIM,OMIM:618723,Subtype of disorder,[Malformation syndrome subtype],Premature ovarian failure 16,,"Premature ovarian failure-16 (POF16) is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone (FSH; see {136530}) levels and low estradiol levels. Ovaries are smaller than normal and show a solid echo pattern with no antral follicle ({1:Zhang et al., 2018}).",[618723],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18045,Active,Orphanet+OMIM,OMIM:123100,Subtype of disorder,[Morphological anomaly subtype],Craniosynostosis 1,"[craniostenosis, Crs]","Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {8:Fitzpatrick, 2013}). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis.\n\n<Subhead> Genetic Heterogeneity of Craniosynostosis\n\nCraniosynostosis-2 (CRS2; {604757}) is caused by mutation in the MSX2 gene ({123101}) on chromosome 5q35. Craniosynostosis-3 (CRS3; {615314}) is caused by mutation in the TCF12 gene ({600480}) on chromosome 15q21. Craniosynostosis-4 (CRS4; {600775}) is caused by mutation in the ERF gene ({611888}) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5; {615529}) is conferred by variation in the ALX4 gene ({605420}) on chromosome 11p11. Craniosynostosis-6 (CRS6; {616602}) is caused by mutation in the ZIC1 gene ({600470}) on chromosome 3q24. Susceptibility to craniosynostosis-7 (CRS7; {617439}) is conferred by variation in the SMAD6 gene ({602931}) on chromosome 15q22.",[123100],"[35093, 35099]","[Non-syndromic sagittal craniosynostosis, Non-syndromic bicoronal craniosynostosis]","[16633, 16634]",,,,, +GARD:18046,Active,Orphanet+OMIM,OMIM:615529,Subtype of disorder,[Morphological anomaly subtype],"Craniosynostosis 5, susceptibility to",,"Premature fusion of the various sutures in the human neurocranium (skull vault and base) is defined as craniosynostosis (CRS). Clinical consequences include abnormal head shape and increased intracranial pressure, which may result in neurologic symptoms, developmental delay, and hearing or vision problems. Approximately 80% of cases are classified as nonsyndromic craniosynostosis and present as isolated suture fusion with no other associated anomalies. Sagittal suture fusion is the most common form of isolated craniosynostosis, accounting for 40 to 58% of all isolated cases (summary by {2:Yagnik et al., 2012}).\n\nFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100}).",[615529],[35093],[Non-syndromic sagittal craniosynostosis],[16633],,,,, +GARD:18047,Active,Orphanet+OMIM,OMIM:615314,Subtype of disorder,[Morphological anomaly subtype],Craniosynostosis 3,,"Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {2:Fitzpatrick, 2013}). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms ({4:Sharma et al., 2013}).\n\nFor discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100}).",[615314],[35099],[Non-syndromic bicoronal craniosynostosis],[16634],,,,, +GARD:18048,Active,Orphanet+OMIM,OMIM:616602,Subtype of disorder,[Morphological anomaly subtype],Craniosynostosis 6,,"Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures ({2:Twigg et al., 2015}).\n\nFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100}).\n\nStructural brain anomalies with impaired intellectual development and craniosynostosis (BAIDCS; {618736}) is an allelic disorder.",[616602],[35099],[Non-syndromic bicoronal craniosynostosis],[16634],,,,, +GARD:18049,Active,Orphanet+OMIM,OMIM:121400,Subtype of disorder,[Morphological anomaly subtype],"Cornea plana 1, autosomal dominant",,"Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA1, an autosomal dominant form of the disorder, is mild (summary by {5:Tahvanainen et al., 1996}).\n\n<Subhead> Genetic Heterogeneity of Cornea Plana\n\nAlso see CNA2 ({217300}), an autosomal recessive form of the disorder, which is severe and frequently associated with additional ocular manifestations.",[121400],[53691],[Congenital cornea plana],[16657],,,,, +GARD:18050,Active,Orphanet+OMIM,OMIM:217300,Subtype of disorder,[Morphological anomaly subtype],"Cornea plana 2, autosomal recessive",,"Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by {11:Tahvanainen et al., 1996}).\n\nFor discussion of genetic heterogeneity of CNA, see CNA1 ({121400}).",[217300],[53691],[Congenital cornea plana],[16657],,,,, +GARD:18051,Active,Orphanet+OMIM,OMIM:168500,Subtype of disorder,[Malformation syndrome subtype],Parietal foramina 1,"[parietal foramina, symmetric, Pfm, cranium bifidum, hereditary, catlin marks, cranium bifidum occultum, foramina parietalia permagna]","Parietal foramina are symmetric, oval defects in the parietal bone situated on each side of the sagittal suture and separated from each other by a narrow bridge of bone. The size of the openings decrease with age and considerable intrafamilial variability is observed (summary by {12:Spruijt et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Parietal Foramina\n\nSee also PFM2 ({609597}) and the 11p11.2 deletion syndrome ({601224}), in which parietal foramina are caused by haploinsufficiency of the ALX4 gene ({605420}) on chromosome 11p.\n\nA third locus for PFM (PFM3; {609566}) has been mapped to chromosome 4q21-q23.",[168500],[60015],[Enlarged parietal foramina],[16662],,,,, +GARD:18052,Active,Orphanet+OMIM,OMIM:609566,Subtype of disorder,[Malformation syndrome subtype],Parietal foramina 3,,"Parietal foramina-3 is a nonsyndromic developmental defect characterized by symmetrical oval holes in the parietal bone ({1:Chen et al., 2003}).\n\nFor a discussion of genetic heterogeneity of parietal foramina, see {168500}.",[609566],[60015],[Enlarged parietal foramina],[16662],,,,, +GARD:18053,Active,Orphanet+OMIM,OMIM:609597,Subtype of disorder,[Malformation syndrome subtype],Parietal foramina 2,,"Parietal foramina-2 (PFM2) is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by {1:Altunoglu et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 ({168500}).",[609597],[60015],[Enlarged parietal foramina],[16662],,,,, +GARD:18054,Active,Orphanet+OMIM,OMIM:211400,Subtype of disorder,[Disease subtype],Bronchiectasis with or without elevated sweat chloride 1,[Cystic fibrosis-like syndrome],,[211400],[60033],[Idiopathic bronchiectasis],[16664],,,,, +GARD:18055,Active,Orphanet+OMIM,OMIM:613021,Subtype of disorder,[Disease subtype],Bronchiectasis with or without elevated sweat chloride 2,[Cystic fibrosis-like syndrome],,[613021],[60033],[Idiopathic bronchiectasis],[16664],,,,, +GARD:18056,Active,Orphanet+OMIM,OMIM:613071,Subtype of disorder,[Disease subtype],Bronchiectasis with or without elevated sweat chloride 3,[Cystic fibrosis-like syndrome],,[613071],[60033],[Idiopathic bronchiectasis],[16664],,,,, +GARD:18057,Active,Orphanet+OMIM,OMIM:600131,Subtype of disorder,[Disease subtype],"Epilepsy, childhood absence, susceptibility to, 1",,"Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; {600669}), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge (SWD) on EEG. Seizure onset occurs between 3 and 8 years of age and seizures generally occur multiple times per day. About 70% of patients experience spontaneous remission of seizures, often around adolescence. There are no structural neuropathologic findings in patients with ECA ({3:Crunelli and Leresche, 2002}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Childhood Absence Epilepsy\n\nThe ECA1 locus has been mapped to chromosome 8q24; see also EIG1 (see {600669}), which also maps to 8q24.\n\nSusceptibility to the development of childhood absence epilepsy may be conferred by variation in several genes: ECA2 (see {607681}), conferred by variation in the GABRG2 gene ({137164}) on chromosome 5q31.1; ECA4 ({611136}), conferred by variation in the GABRA1 gene ({137160}) on chromosome 5q34; ECA5 ({612269}), conferred by variation in the GABRB3 gene ({137192}) on chromosome 15q12; and ECA6 (see {611942}), conferred by variation in the CACNA1H gene ({607904}) on chromosome 16p13.\n\nSee EIG11 ({607628}) for discussion of a locus previously designated ECA3 on chromosome 3q26.",[600131],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:18058,Active,Orphanet+OMIM,OMIM:607681,Subtype of disorder,[Disease subtype],"Febrile seizures, familial, 8",,"Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years. Many of these patients may later develop absence seizures, which may also spontaneously remit, whereas a few may continue to have various types of febrile and afebrile seizures that persist beyond childhood, consistent with GEFS+. There is phenotypic variability in the seizure type, even within a family carrying the same mutation, suggesting that other loci may be involved (summary by {9:Singh et al., 1999} and {7:Marini et al., 2003}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.\n\nFor a phenotypic description and discussion of genetic heterogeneity of childhood absence epilepsy, see {600131}.",[607681],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:18059,Active,Orphanet+OMIM,OMIM:611136,Subtype of disorder,[Disease subtype],"Epilepsy, idiopathic generalized, susceptibility to, 13",,"Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see {600669}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 ({600131}) and JME ({254770}), respectively.",[611136],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:1806,Active,Orphanet,ORPHA:99791,Subtype of disorder,[Clinical subtype],Dentin dysplasia type II,"[DD-II, DTDP2]","Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition.",[125420],,,,,"Dentin dysplasia, coronal",TRUE,FALSE,Active +GARD:18060,Active,Orphanet+OMIM,OMIM:611942,Subtype of disorder,[Disease subtype],"Epilepsy, childhood absence, susceptibility to, 6",,"Childhood absence epilepsy is a subtype of idiopathic generalized epilepsy. For a general phenotypic description and a discussion of genetic heterogeneity of childhood absence epilepsy and idiopathic generalized epilepsy, see ECA1 ({600131}) and ({600669}), respectively.",[611942],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:18061,Active,Orphanet+OMIM,OMIM:612269,Subtype of disorder,[Disease subtype],"Epilepsy, childhood absence, susceptibility to, 5",,,[612269],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:18062,Active,Orphanet+OMIM,OMIM:602032,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 4, hair/nail type","[Ectodermal dysplasia, 'pure' hair/nail type]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.",[602032],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18063,Active,Orphanet+OMIM,OMIM:614927,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 5, hair/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.",[614927],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18064,Active,Orphanet+OMIM,OMIM:614928,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 6, hair/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.",[614928],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18065,Active,Orphanet+OMIM,OMIM:614929,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 7, hair/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.",[614929],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18066,Active,Orphanet+OMIM,OMIM:614931,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 9, hair/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nEctodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by {2:Lin et al., 2012}).",[614931],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18067,Active,Orphanet+OMIM,OMIM:618252,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 32",,,[618252],[70474],[Leigh syndrome with cardiomyopathy],[16685],,,,, +GARD:18068,Active,Orphanet+OMIM,OMIM:605432,Subtype of disorder,[Malformation syndrome subtype],Radioulnar synostosis with amegakaryocytic thrombocytopenia 1,"[thrombocytopenia, congenital, with radioulnar synostosis, Rusat]","Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by {1:Niihori et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia\n\nRadioulnar synostosis with amegakaryocytic thrombocytopenia-2 (RUSAT2; {616738}) is caused by heterozygous mutation in the MECOM gene ({165215}) on chromosome 3q26.",[605432],[71289],[Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome],[16687],,,,, +GARD:18069,Active,Orphanet+OMIM,OMIM:616738,Subtype of disorder,[Malformation syndrome subtype],Radioulnar synostosis with amegakaryocytic thrombocytopenia 2,,"Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by {1:Niihori et al., 2015}).\n\nFor a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 ({605432}).",[616738],[71289],[Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome],[16687],,,,, +GARD:1807,Active,Orphanet,ORPHA:99789,Subtype of disorder,[Clinical subtype],Dentin dysplasia type I,"[DD-I, DTDP1, Radicular dentin dysplasia]","Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.",,,,,,"Dentin dysplasia, type 1",TRUE,FALSE,Active +GARD:18070,Active,Orphanet+OMIM,OMIM:115210,Subtype of disorder,[Disease subtype],"Cardiomyopathy, familial restrictive, 1",[Rcm],"Restrictive cardiomyopathy (RCM) is a myocardial disease characterized by impaired ventricular filling and reduced diastolic volume in the presence of normal systolic function and normal or near-normal myocardial thickness. The disease is characterized by symptoms of progressive left- and right-sided heart failure. The overall prognosis is poor, especially when onset is in childhood, and patients often require cardiac transplantation ({9:Mogensen et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Familial Restrictive Cardiomyopathy\n\nOther forms of familial restrictive cardiomyopathy include RCM2 ({609578}), mapped to chromosome 10q23; RCM3 ({612422}), caused by mutation in the TNNT2 gene ({191045}) on chromosome 1q32; RCM4 (see {615248}), caused by mutation in the MYPN gene ({608517}) on chromosome 10q21; RCM5 (see {617047}), caused by mutation in the FLNC gene ({102565}) on chromosome 7q32; and RCM6 ({619433}), caused by mutation in the KIF20A gene ({605664}) on chromosome 5q31.",[115210],[75249],[Familial isolated restrictive cardiomyopathy],[16692],,,,, +GARD:18071,Active,Orphanet+OMIM,OMIM:609578,Subtype of disorder,[Disease subtype],"Cardiomyopathy, familial restrictive, 2",,"For a general phenotypic description and a discussion of genetic heterogeneity of familial restrictive cardiomyopathy, see {115210}.",[609578],[75249],[Familial isolated restrictive cardiomyopathy],[16692],,,,, +GARD:18072,Active,Orphanet+OMIM,OMIM:612422,Subtype of disorder,[Disease subtype],"Cardiomyopathy, familial restrictive, 3",,,[612422],[75249],[Familial isolated restrictive cardiomyopathy],[16692],,,,, +GARD:18073,Active,Orphanet+OMIM,OMIM:145250,Subtype of disorder,[Disease subtype],"Hyperpigmentation with or without hypopigmentation, familial progressive","[hyperpigmentation, familial progressive, 2, formerly, Melanosis universalis hereditaria]","Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by {11:Wang et al., 2009} and {1:Amyere et al., 2011}).\n\nAlso see familial progressive hyperpigmentation (FPH1; {614233}).",[145250],[79146],[Familial progressive hyperpigmentation],[16706],,,,, +GARD:18074,Active,Orphanet+OMIM,OMIM:614233,Subtype of disorder,[Disease subtype],"Hyperpigmentation, familial progressive, 1",,"Familial progressive hyperpigmentation (FPH) is a rare autosomal dominant disorder characterized by patches of hyperpigmentation in the skin, which are present at birth or in early infancy and increase in size and number with age (summary by {1:Zhang et al., 2006}).\n\nAlso see familial progressive hyperpigmentation with or without hypopigmentation (FPHH; {145250}).",[614233],[79146],[Familial progressive hyperpigmentation],[16706],,,,, +GARD:18075,Active,Orphanet+OMIM,OMIM:143470,Subtype of disorder,[Disease subtype],Hyperalphalipoproteinemia 1,"[Cholesterol ester transfer protein deficiency, cetp deficiency]",,[143470],[79506],[Cholesterol-ester transfer protein deficiency],[16724],,,,, +GARD:18076,Active,Orphanet+OMIM,OMIM:614028,Subtype of disorder,[Disease subtype],Apolipoprotein c-iii deficiency,[Hyperalphalipoproteinemia 2],,[614028],[79506],[Cholesterol-ester transfer protein deficiency],[16724],,,,, +GARD:18077,Active,Orphanet+OMIM,OMIM:603387,Subtype of disorder,[Malformation syndrome subtype],Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1,"[meg-pmg-megacc syndrome, Megalencephaly, polymicrogyria, mega corpus callosum syndrome, megalencephaly, mega corpus callosum, and complete lack of motor development]","This disorder comprises megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP; {602501}) (summary by {3:Gripp et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome\n\nSee also MPPH2 ({615937}), caused by mutation in the AKT3 gene ({611223}) on chromosome 1q43-q44; and MPPH3 ({615938}), caused by mutation in the CCND2 gene ({123833}) on chromosome 12p13.",[603387],[83473],[Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome],[10341],,,,, +GARD:18078,Active,Orphanet+OMIM,OMIM:615937,Subtype of disorder,[Malformation syndrome subtype],Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2,,"MPPH2 is an overgrowth syndrome comprising megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP; {602501}) (summary by {1:Gripp et al., 2009}).\n\nFor a discussion of genetic heterogeneity of MPPH, see {603387}.",[615937],[83473],[Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome],[10341],,,,, +GARD:18079,Active,Orphanet+OMIM,OMIM:615938,Subtype of disorder,[Malformation syndrome subtype],Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3,,"This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by {2:Mirzaa et al., 2014}).\n\nFor a discussion of genetic heterogeneity of MPPH, see MPPH1 ({603387}).",[615938],[83473],[Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome],[10341],,,,, +GARD:1808,Active,Orphanet,ORPHA:99792,Disorder,[Disease],Dentin dysplasia-sclerotic bones syndrome,,"Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.",[125440],,,,,Dentin dysplasia sclerotic bones,TRUE,FALSE,Active +GARD:18080,Active,Orphanet+OMIM,OMIM:613550,Subtype of disorder,[Disease subtype],Nephronophthisis 11,,,[613550],[84081],[Senior-Boichis syndrome],[16730],,,,, +GARD:18081,Active,Orphanet+OMIM,OMIM:616217,Subtype of disorder,[Disease subtype],Nephronophthisis 19,,,[616217],[84081],[Senior-Boichis syndrome],[16730],,,,, +GARD:18082,Active,Orphanet+OMIM,OMIM:601068,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 1","[Benign adult familial myoclonic epilepsy 1, cortical myoclonic tremor with epilepsy, familial, 1]","Familial cortical myoclonic tremor associated with epilepsy (FCMTE) is characterized by an autosomal dominant inheritance, adult-onset cortical myoclonus, and seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by {3:Depienne et al., 2010}). FAME1 tends to occur in patients of Japanese or Han Chinese descent (summary by {2:Cen et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Familial Adult Myoclonic Epilepsy\n\nSee also FAME2 ({607876}), caused by mutation in the STARD7 gene ({616712}) on chromosome 2q11; FAME3 ({613608}), caused by mutation in the MARCHF6 gene ({613297}) on chromosome 5p15; FAME4 ({615127}), which maps to chromosome 3q26.32-q28; FAME5 ({615400}), caused by mutation in the CNTN2 gene ({190197}) on chromosome 1q32; FAME6 ({618074}), caused by mutation in the TNRC6A gene ({610739}) on chromosome 16p12; and FAME7 ({618075}), caused by mutation in the RAPGEF2 gene ({609530}) on chromosome 4.\n\nProgressive myoclonic epilepsy is a more severe disorder (see, e.g., EPM1, {254800}).",[601068],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18083,Active,Orphanet+OMIM,OMIM:607876,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 2","[cortical myoclonus and epilepsy, autosomal dominant, Benign adult familial myoclonic epilepsy 2, cortical myoclonic tremor with epilepsy, familial, 2]","Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by {4:De Fusco et al., 2014}; {2:Crompton et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 ({601068}).",[607876],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18084,Active,Orphanet+OMIM,OMIM:613608,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 3","[Cortical myoclonic tremor with epilepsy, familial, 3]","Familial adult myoclonic epilepsy-3 (FAME3) is an autosomal dominant neurologic disorder characterized by onset of cortical tremor, mainly affecting the hands and voice, between 10 and 40 years of age, with adult onset being more common. Most affected individuals develop epilepsy with generalized tonic-clonic seizures; some may have partial or absence seizures. The disorder is nonprogressive or slowly progressive, and most patients respond to antiseizure medication (summary by {2:Florian et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 ({601068}).",[613608],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18085,Active,Orphanet+OMIM,OMIM:615127,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 4","[Cortical myoclonic tremor with epilepsy, familial, 4]",,[615127],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18086,Active,Orphanet+OMIM,OMIM:615400,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 5","[Cortical myoclonic tremor with epilepsy, familial, 5]","Familial adult myoclonic epilepsy-5 is an autosomal recessive neurologic disorder characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Some patients may also have neuropsychiatric abnormalities (summary by {1:Stogmann et al., 2013}).",[615400],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18087,Active,Orphanet+OMIM,OMIM:607694,Subtype of disorder,[Clinical subtype],"Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism","[Leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition, ataxia, delayed dentition, and hypomyelination, 4h leukodystrophy 1, leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism, 4h syndrome]","Hypomyelinating leukodystrophy-7 is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability (summary by {2:Bernard et al., 2011}).\n\nSee also HLD8 ({614381}), which has similar features and is caused by mutation in the POLR3B gene ({614366}) on chromosome 12q23. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.",[607694],[88637],[Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome],[16771],,,,, +GARD:18088,Active,Orphanet+OMIM,OMIM:616494,Subtype of disorder,[Clinical subtype],"Leukodystrophy, hypomyelinating, 11",[4h leukodystrophy 3],"Hypomyelinating leukodystrophy-11 (HLD11) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by {2:Thiffault et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.",[616494],[88637],[Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome],[16771],,,,, +GARD:18089,Active,Orphanet+OMIM,OMIM:618660,Subtype of disorder,[Disease subtype],Hemolytic anemia due to glutathione reductase deficiency,,,[618660],[90030],[Hemolytic anemia due to glutathione reductase deficiency],[16784],,,,, +GARD:18090,Active,Orphanet+OMIM,OMIM:618667,Subtype of disorder,[Disease subtype],"Hydrocephalus, congenital communicating, 1",,,[618667],[90030],[Hemolytic anemia due to glutathione reductase deficiency],[16784],,,,, +GARD:18091,Active,Orphanet+OMIM,OMIM:601152,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary motor and sensory, type via, with optic atrophy","[neuropathy, hereditary motor and sensory, type vi, charcot-marie-tooth disease, type 6a, charcot-marie-tooth disease, type 6, Hmsn via, peripheral neuropathy and optic atrophy]","Hereditary motor and sensory neuropathy type VI is an autosomal dominant neurologic disorder characterized by peripheral neuropathy and optic atrophy (summary by {12:Voo et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VI\n\nSee also HMSN6B ({616505}), caused by mutation in the SLC25A46 gene ({610826}) on chromosome 5q22, and HMSN6C ({618511}), caused by mutation in the PDXK gene ({179020}) on chromosome 21q22.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CMT, see CMT1B ({118200}).",[601152],[90120],[Hereditary motor and sensory neuropathy type 6],[16787],,,,, +GARD:18092,Active,Orphanet+OMIM,OMIM:616505,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary motor and sensory, type vib, with optic atrophy","[charcot-marie-tooth disease, type 6b, Hmsn vib]","Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals may also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements such as ataxia, dysmetria, and myoclonus (summary by {1:Abrams et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A ({601152}).",[616505],[90120],[Hereditary motor and sensory neuropathy type 6],[16787],,,,, +GARD:18093,Active,Orphanet+OMIM,OMIM:146520,Subtype of disorder,[Disease subtype],Hypotrichosis 2,"[hypotrichosis, spanish type, Hypotrichosis simplex of the scalp 1, htss]","Hypotrichosis simplex can affect all body hair or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by {1:Betz et al., 2000}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.",[146520],[90368],[Hypotrichosis simplex of the scalp],[16789],,,,, +GARD:18094,Active,Orphanet+OMIM,OMIM:613981,Subtype of disorder,[Disease subtype],Hypotrichosis 3,[Hypotrichosis simplex of the scalp 2],"Hypotrichosis simplex can affect all body hair (generalized; see {605389}) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by {1:Betz et al., 2000}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 ({605389}).",[613981],[90368],[Hypotrichosis simplex of the scalp],[16789],,,,, +GARD:18095,Active,Orphanet+OMIM,OMIM:300030,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 3",,,[300030],[90625],[X-linked non-syndromic sensorineural deafness type DFN],[16790],,,,, +GARD:18096,Active,Orphanet+OMIM,OMIM:300066,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 4","[Deafness, x-linked 6, progressive, deafness, nonsyndromic sensorineural progressive 6]","X-linked deafness-4 is a nonsyndromic form of progressive hearing loss with postlingual onset. Affected males show earlier onset of hearing loss than affected females (summary by {2:del Castillo et al., 1996}).",[300066],[90625],[X-linked non-syndromic sensorineural deafness type DFN],[16790],,,,, +GARD:18097,Active,Orphanet+OMIM,OMIM:300914,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 6",,,[300914],[90625],[X-linked non-syndromic sensorineural deafness type DFN],[16790],,,,, +GARD:18098,Active,Orphanet+OMIM,OMIM:304500,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 1","[Deafness, x-linked 2, sensorineural congenital]",,[304500],[90625],[X-linked non-syndromic sensorineural deafness type DFN],[16790],,,,, +GARD:18099,Active,Orphanet+OMIM,OMIM:600101,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 2a",,,[600101],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:181,Active,Orphanet,ORPHA:827,Disorder,[Disease],Stargardt disease,"[Fundus flavimaculatus, Stargardt 1]","A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.","[603786, 600110, 248200]",,,,,Stargardt disease,TRUE,FALSE,Active +GARD:1810,Active,Orphanet,ORPHA:3270,Disorder,[Malformation syndrome],Radioulnar synostosis-developmental delay-hypotonia syndrome,[Der Kaloustian-McIntosh-Silver syndrome],"Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).",[266255],,,,,Radioulnar synostosis-developmental delay-hypotonia syndrome,TRUE,FALSE,Active +GARD:18100,Active,Orphanet+OMIM,OMIM:600652,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 4a","[Deafness, autosomal dominant 4]",,[600652],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18101,Active,Orphanet+OMIM,OMIM:600965,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 6","[Deafness, autosomal dominant 14, deafness, autosomal dominant 38]","Low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high frequency hearing is generally preserved, LFSNHL patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high frequency loss later in life. LFSNHL worsens over time without progressing to profound deafness; in contrast, low frequency hearing loss linked to DFNA1 ({124900}), caused by mutations in the DIAPH1 gene ({602121}), is associated with progression to profound deafness by the fourth decade of life (summary by {1:Bespalova et al., 2001}).",[600965],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18102,Active,Orphanet+OMIM,OMIM:600994,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 5",,,[600994],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18103,Active,Orphanet+OMIM,OMIM:601316,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 10",,,[601316],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18104,Active,Orphanet+OMIM,OMIM:601317,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 11",,"Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by {3:Sun et al., 2011}).",[601317],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18105,Active,Orphanet+OMIM,OMIM:601369,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 9",,"DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable vestibular dysfunction (summary by {9:Robertson et al., 2006}).",[601369],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18106,Active,Orphanet+OMIM,OMIM:601412,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 7",,"Autosomal dominant deafness-7 (DFNA7) is a form of progressive sensorineural hearing loss with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood. Some patients may have associated vertigo (summary by {5:Wesdorp et al., 2018}).",[601412],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18107,Active,Orphanet+OMIM,OMIM:601543,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 12","[Deafness, autosomal dominant 8]",,[601543],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18108,Active,Orphanet+OMIM,OMIM:601868,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 13",,,[601868],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18109,Active,Orphanet+OMIM,OMIM:602459,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 15",,"Autosomal dominant deafness-15 is a form of progressive nonsyndromic sensorineural hearing loss with postlingual onset between the second and sixth decades of life (summary by {3:Kim et al., 2013}).",[602459],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18110,Active,Orphanet+OMIM,OMIM:603964,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 16",,,[603964],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18111,Active,Orphanet+OMIM,OMIM:604717,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 20",[Dfna26],,[604717],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18112,Active,Orphanet+OMIM,OMIM:605583,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 25",,,[605583],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18113,Active,Orphanet+OMIM,OMIM:606012,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 18",,,[606012],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18114,Active,Orphanet+OMIM,OMIM:606451,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 30",,,[606451],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18115,Active,Orphanet+OMIM,OMIM:606705,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 36",,,[606705],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18116,Active,Orphanet+OMIM,OMIM:607017,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 21",,"Autosomal dominant deafness-21 (DFNA21) is characterized by nonsyndromic progressive sensorineural hearing loss. The mean age at onset is 30.6 years, with a range from infancy to late adulthood. There is a high prevalence of this genetic form of deafness in the Dutch population (summary by {3:de Bruijn et al., 2021}).",[607017],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18117,Active,Orphanet+OMIM,OMIM:607197,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive",,"{2:Liu et al. (2001)} screened 26 African American probands with congenital deafness (21 from simplex and 5 from multiplex families) for mutations in connexins 26, 30, and 31 and found no mutations. The affected individuals exhibited profound bilateral congenital deafness. Individuals demonstrated audiograms consistent with sensorineural deafness, the most common pattern in nonsyndromic recessive deafness ({1:Liu and Xu, 1994}), and did not exhibit any craniofacial abnormalities or history of vestibular dysfunction. Although {2:Liu et al. (2001)} reported that they had identified 2 homozygous mutations (leu11 to phe and val24 to ala) in the connexin-43 gene (GJA1; {121014}) in 4 of the 26 African American probands, {3:Paznekas et al. (2003)} cited a personal communication from the senior author of the report by {2:Liu et al. (2001)} stating that the 2 mutations had been found to involve the pseudogene of connexin-43 located on chromosome 5.",[607197],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18118,Active,Orphanet+OMIM,OMIM:607453,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 44",,,[607453],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18119,Active,Orphanet+OMIM,OMIM:607683,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 52",,,[607683],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:1812,Legacy,GARD,,,,,,,,,,,,Dermatocardioskeletal syndrome Boronne type,TRUE,FALSE,Active +GARD:18120,Active,Orphanet+OMIM,OMIM:607841,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 48",,,[607841],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18121,Active,Orphanet+OMIM,OMIM:608224,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 41",,"Autosomal dominant deafness-41 (DFNA41) is characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies (summary by {4:Yan et al., 2013}).",[608224],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18122,Active,Orphanet+OMIM,OMIM:608372,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 49",,,[608372],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18123,Active,Orphanet+OMIM,OMIM:608394,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 43",,,[608394],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18124,Active,Orphanet+OMIM,OMIM:608641,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 28",,,[608641],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18125,Active,Orphanet+OMIM,OMIM:608645,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 31",,,[608645],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18126,Active,Orphanet+OMIM,OMIM:608652,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 47",,,[608652],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18127,Active,Orphanet+OMIM,OMIM:609129,Subtype of disorder,[Etiological subtype],"Auditory neuropathy, autosomal dominant 1","[Auditory neuropathy, nonsyndromic dominant]","Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease ({4:Satya-Murti et al., 1979}) and has been observed in Friedreich ataxia ({3:Satya-Murti et al., 1980}). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, {601071}.\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Auditory Neuropathy\n\nSee also AUNA3 ({619832}), caused by mutation in the TMEM43 gene ({612048}) on chromosome 3p25.",[609129],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18128,Active,Orphanet+OMIM,OMIM:612431,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 27",,"DFNA27 is characterized by postlingual progressive moderate to profound sensorineural hearing loss ({3:Peters et al., 2008}).",[612431],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18129,Active,Orphanet+OMIM,OMIM:612642,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 59",,,[612642],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:1813,Active,Orphanet,ORPHA:1659,Disorder,[Disease],Dermatoleukodystrophy,[Cutis laxa-leukodystrophy],"A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths.",[221790],,,,,Dermatoleukodystrophy,TRUE,FALSE,Active +GARD:18130,Active,Orphanet+OMIM,OMIM:612643,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 3b",,,[612643],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18131,Active,Orphanet+OMIM,OMIM:612644,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 2b",,,[612644],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18132,Active,Orphanet+OMIM,OMIM:613074,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 50",,"Autosomal dominant deafness-50 is a form of nonsyndromic hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by {1:Mencia et al., 2009}).",[613074],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18133,Active,Orphanet+OMIM,OMIM:613558,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 51",,,[613558],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18134,Active,Orphanet+OMIM,OMIM:614152,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 64",,,[614152],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18135,Active,Orphanet+OMIM,OMIM:614211,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 33",,,[614211],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18136,Active,Orphanet+OMIM,OMIM:614614,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 4b",,"Autosomal dominant deafness-4B is a form of nonsyndromic progressive sensorineural hearing loss with postlingual onset (summary by {2:Wang et al., 2015})",[614614],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18137,Active,Orphanet+OMIM,OMIM:615629,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 56",,"Autosomal dominant deafness-56 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by {1:Zhao et al., 2013}).",[615629],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18138,Active,Orphanet+OMIM,OMIM:615649,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 54",,,[615649],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18139,Active,Orphanet+OMIM,OMIM:615654,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 58",,,[615654],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:1814,Active,Orphanet,ORPHA:1657,Disorder,[Malformation syndrome],"Dermatoosteolysis, Kirghizian type",,"A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983.",[221810],,,,,Dermatoosteolysis Kirghizian type,TRUE,FALSE,Active +GARD:18140,Active,Orphanet+OMIM,OMIM:616044,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 65",,"Autosomal dominant deafness-65 is characterized by postlingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal ({2:Zhang et al., 2014}).",[616044],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18141,Active,Orphanet+OMIM,OMIM:616340,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 67",,"DFNA67 is a form of nonsyndromic sensorineural hearing loss. Onset ranges from the first to the fourth year of life. Hearing loss initially affects high frequencies, with variable progression. There are no vestibular symptoms ({2:Xing et al., 2015}; {1:Thoenes et al., 2015}).",[616340],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18142,Active,Orphanet+OMIM,OMIM:616357,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 40",,,[616357],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18143,Active,Orphanet+OMIM,OMIM:616697,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 69","[Deafness, congenital, unilateral or asymmetric]",,[616697],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18144,Active,Orphanet+OMIM,OMIM:616707,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 68",,,[616707],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18145,Active,Orphanet+OMIM,OMIM:616968,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 70",,"Autosomal dominant deafness-70 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is slowly progressive ({1:Gao et al., 2015}).",[616968],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18146,Active,Orphanet+OMIM,OMIM:616969,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 66",,"Autosomal dominant deafness-66 is a form of nonsyndromic sensorineural hearing impairment with widely variable age at onset ({1:Nyegaard et al., 2015}).",[616969],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18147,Active,Orphanet+OMIM,OMIM:617605,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 71",,,[617605],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18148,Active,Orphanet+OMIM,OMIM:617606,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 72",,,[617606],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18149,Active,Orphanet+OMIM,OMIM:617663,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 73",,,[617663],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:1815,Active,Orphanet,ORPHA:79149,Disorder,[Disease],Dermochondrocorneal dystrophy,[François syndrome],"Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.",[221800],,,,,Dermochondrocorneal dystrophy of François,TRUE,FALSE,Active +GARD:18150,Active,Orphanet+OMIM,OMIM:618094,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 110",,,[618094],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18151,Active,Orphanet+OMIM,OMIM:618140,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 74",,"Autosomal dominant deafness-74 (DFNA74) is characterized by nonsyndromic postlingual progressive hearing loss, with onset in the third decade of life in most affected individuals ({1:Wang et al., 2018}).",[618140],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18152,Active,Orphanet+OMIM,OMIM:618410,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 113",,"DFNB113 is characterized by postlingual progressive hearing impairment ({1:Booth et al., 2018}).",[618410],"[90635, 90636]","[Autosomal dominant non-syndromic sensorineural deafness type DFNA, Autosomal recessive non-syndromic sensorineural deafness type DFNB]","[18644, 16791]",,,,, +GARD:18153,Active,Orphanet+OMIM,OMIM:618778,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 75",,"DFNA75 is characterized by adult onset of moderate to severe, mid to high frequency hearing loss, progressing to involvement of all frequencies ({2:Xia et al., 2019}).",[618778],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18154,Active,Orphanet+OMIM,OMIM:618787,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 76",,"Autosomal dominant deafness-76 (DFNA76) is characterized by progressive or nonprogressive hearing loss with variable age at onset. Hearing loss is more severe at higher frequencies in most patients ({3:Schrauwen et al., 2019}; {2:Morgan et al., 2019}; {1:Diaz-Horta et al., 2019}).",[618787],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18155,Active,Orphanet+OMIM,OMIM:618915,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 77",,"Autosomal dominant deafness-77 (DFNA77) is characterized by progressive hearing loss affecting high frequencies beginning in the second to third decades of life and affecting all frequencies by the fourth or fifth decades ({1:Li et al., 2019}).",[618915],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18156,Active,Orphanet+OMIM,OMIM:619081,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 78",,"Autosomal dominant deafness-78 (DFNA78) is characterized by profound congenital bilateral sensorineural hearing loss affecting all frequencies. Some patients may have mild motor delay early in life due to vestibular dysfunction, although the motor skills catch up with age. Affected individuals do not have systemic or other neurologic manifestations (summary by {3:Mutai et al., 2020}).",[619081],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18157,Active,Orphanet+OMIM,OMIM:619086,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 79",,"Autosomal dominant deafness-79 (DFNA79) is a nonsyndromic form of progressive sensorineural hearing loss with age of onset ranging from 20 years to 65 years. Affected females appear to have milder hearing loss than males ({1:Lu et al., 2020}).",[619086],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18158,Active,Orphanet+OMIM,OMIM:619274,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 80",,"DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves ({1:Schrauwen et al., 2018}; {2:Schrauwen et al., 2020}).",[619274],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18159,Active,Orphanet+OMIM,OMIM:221745,Subtype of disorder,[Etiological subtype],"Deafness, sensorineural, autosomal-mitochondrial type",,,[221745],[90641],[Mitochondrial non-syndromic sensorineural deafness],[16792],,,,, +GARD:1816,Active,Orphanet,ORPHA:1660,Disorder,[Malformation syndrome],Dermoodontodysplasia,,"A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990.",[125640],,,,,Dermoodontodysplasia,TRUE,FALSE,Active +GARD:18160,Active,Orphanet+OMIM,OMIM:500008,Subtype of disorder,[Etiological subtype],"Deafness, nonsyndromic sensorineural, mitochondrial",,"Mutations in mitochondrial DNA (mtDNA) have been found to be associated with nonsyndromic sensorineural hearing loss. Matrilineal relatives within and among families carrying certain pathogenic mitochondrial mutations exhibit a wide range of penetrance, severity, and age of onset of hearing loss, indicating that the mitochondrial mutations by themselves are not sufficient to produce a deafness phenotype. Modifier factors, such as nuclear and mitochondrial genes, or environmental factors, such as exposure to aminoglycosides, appear to modulate the phenotypic manifestations (summary by {10:Tang et al., 2007}).",[500008],[90641],[Mitochondrial non-syndromic sensorineural deafness],[16792],,,,, +GARD:18161,Active,Orphanet+OMIM,OMIM:580000,Subtype of disorder,[Etiological subtype],"Deafness, aminoglycoside-induced","[streptomycin ototoxicity, Deafness, streptomycin-induced]","The mechanism of ototoxicity of aminoglycosides is thought to be interference with the production of ATP in the mitochondria of hair cells in the cochlea ({1:Akiyoshoi et al., 1976}). The aminoglycosides include kanamycin, gentamicin, tobramycin, and neomycin in addition to streptomycin.",[580000],[90641],[Mitochondrial non-syndromic sensorineural deafness],[16792],,,,, +GARD:18162,Active,Orphanet+OMIM,OMIM:178300,Subtype of disorder,[Disease subtype],"Ptosis, hereditary congenital 1",,Hereditary congenital ptosis occurs in 3 main forms: simple; with external ophthalmoplegia; and with blepharophimosis.\n\nSee PTOS2 ({300245}) for description of an X-linked form of congenital bilateral isolated ptosis.,[178300],[91411],[Congenital ptosis],[16798],,,,, +GARD:18163,Active,Orphanet+OMIM,OMIM:300245,Subtype of disorder,[Disease subtype],"Ptosis, hereditary congenital 2",,See PTOS1 ({178300}) for a form of ptosis that has been linked to chromosome 1p.,[300245],[91411],[Congenital ptosis],[16798],,,,, +GARD:18164,Active,Orphanet+OMIM,OMIM:616219,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, 5",,,[616219],[91411],[Congenital ptosis],[16798],,,,, +GARD:18165,Active,Orphanet+OMIM,OMIM:103420,Subtype of disorder,[Disease subtype],"Alacrima, congenital, autosomal dominant","[Alacrimia congenita, autosomal dominant]",,[103420],[91416],[Isolated congenital alacrima],[16799],,,,, +GARD:18166,Active,Orphanet+OMIM,OMIM:601549,Subtype of disorder,[Disease subtype],"Alacrima, congenital, autosomal recessive",,,[601549],[91416],[Isolated congenital alacrima],[16799],,,,, +GARD:18167,Active,Orphanet+OMIM,OMIM:221900,Subtype of disorder,[Disease subtype],"Persistent hyperplastic primary vitreous, autosomal recessive","[Retinal nonattachment, nonsyndromic congenital, retinal nonattachment and falciform detachment, persistent fetal vasculature]","Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see {5:Haddad et al., 1978}; {7:Khaliq et al., 2001}; {15:Prasov et al., 2012}).\n\nPHPV shares phenotypic overlap with Norrie disease ({310600}).\n\n<Subhead> Genetic Heterogeneity of Persistent Hyperplastic Primary Vitreous\n\nA dominant form of PHPV has been described (PHPVAD; {611308}).",[221900],[91495],[Persistent hyperplastic primary vitreous],[16803],,,,, +GARD:18168,Active,Orphanet+OMIM,OMIM:611308,Subtype of disorder,[Disease subtype],"Persistent hyperplastic primary vitreous, autosomal dominant",,"Persistent hyperplastic primary vitreous (PHPV) is a developmental malformation of the eye due to the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmos, cataract, and glaucoma ({2:Haddad et al., 1978}).\n\nFor a discussion of genetic heterogeneity of PHPV, see {221900}.",[611308],[91495],[Persistent hyperplastic primary vitreous],[16803],,,,, +GARD:18169,Active,Orphanet+OMIM,OMIM:277440,Subtype of disorder,[Disease subtype],"Vitamin d-dependent rickets, type 2a","[Vitamin d-dependent rickets, type 2a, with or without alopecia, rickets-alopecia syndrome, pddr iia, generalized resistance to 1,25-dihydroxyvitamin d, pseudovitamin d-deficiency, type iia, hypocalcemic vitamin d-resistant rickets, vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol, rickets, hereditary vitamin d-resistant]","Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.\n\nVDDR2B ({600785}) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; {264700}).",[277440],[93160],[Hypocalcemic vitamin D-resistant rickets],[16805],,,,, +GARD:18170,Active,Orphanet+OMIM,OMIM:600785,Subtype of disorder,[Disease subtype],"Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor",,"Vitamin D-dependent rickets type 2B with normal vitamin D receptor (VDDR2B) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.\n\nVitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the vitamin D receptor gene (VDR; {601769}), and most patients have alopecia in addition to rickets.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; {264700}).",[600785],[93160],[Hypocalcemic vitamin D-resistant rickets],[16805],,,,, +GARD:18171,Active,Orphanet+OMIM,OMIM:619073,Subtype of disorder,[Disease subtype],"Vitamin d-dependent rickets, type 3",,"Vitamin D-dependent rickets-3 (VDDR3) is characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to the parent molecule as well as activated forms of vitamin D ({1:Roizen et al., 2018}).\n\nFor discussion of genetic heterogeneity of vitamin D-dependent rickets, see {264700}.",[619073],[93160],[Hypocalcemic vitamin D-resistant rickets],[16805],,,,, +GARD:18172,Active,Orphanet+OMIM,OMIM:263450,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a5",,"For a general phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly (PAP), see PAPA1 ({174200}).",[263450],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18173,Active,Orphanet+OMIM,OMIM:602085,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a2",,"For a phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[602085],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18174,Active,Orphanet+OMIM,OMIM:607324,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a3",,"For a phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[607324],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18175,Active,Orphanet+OMIM,OMIM:608562,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a4",,"For a phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.\n\n{1:Galjaard et al. (2003)} described an autosomal dominant postaxial polydactyly and partial cutaneous syndactyly syndrome in a 31-member, 6-generation Dutch kindred with 11 affected individuals. Although the PAPA phenotype predominated, the expression of the polydactyly and syndactyly phenotypes was variable with respect to involvement of upper/lower limbs, right/left sides, PAPA and/or PAPB phenotype expression, interdigital space (IDS), and extent of syndactyly, especially in 2 branches of the family. No other associated anomalies were observed. {1:Galjaard et al. (2003)} performed a whole-genome screen in this family and detected positive lod scores for markers on chromosome 7q, with a maximum 2-point lod score of 3.18 at theta = 0 with D7S1799. Individuals with PAPA/B and one with partial cutaneous syndactyly of IDS2 shared a common haplotype between markers D7S1799 and D7S495 (50 cM). They also shared a haplotype between GATA63F08 and D7S2513 (3.7 cM) with 2 clinically normal individuals and a patient with only syndactyly. {1:Galjaard et al. (2003)} concluded that PAP and syndactyly in this family are genetically heterogeneous with high penetrance, the only nonpenetrant individual being the patient with the PAPB-only phenotype.",[608562],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18176,Active,Orphanet+OMIM,OMIM:615226,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a6",,,[615226],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18177,Active,Orphanet+OMIM,OMIM:618219,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a9",,"Postaxial polydactyly type A9 is characterized by one or more posterior or postaxial digits. There is intrafamilial and intraindividual variability ({1:Schrauwen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[618219],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18178,Active,Orphanet+OMIM,OMIM:618498,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a10",,"Postaxial polydactyly type A10 (PAPA10) is characterized by one or more postaxial digits of the hands and/or feet. A rudimentary digit (PAP type B) may also be present. Intrafamilial variability has been observed ({1:Ullah et al., 2019}).\n\nFor a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[618498],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18179,Active,Orphanet+OMIM,OMIM:604387,Subtype of disorder,[Clinical subtype],Nephronophthisis 3,[Nph3],,[604387],[93589],[Late-onset nephronophthisis],[16824],,,,, +GARD:1818,Active,Orphanet,ORPHA:1425,Disorder,[Malformation syndrome],Desbuquois syndrome,"[DBQD, Desbuquois dysplasia]","Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.","[615777, 251450]",,,,,Desbuquois syndrome,TRUE,FALSE,Active +GARD:18180,Active,Orphanet+OMIM,OMIM:613159,Subtype of disorder,[Clinical subtype],Nephronophthisis-like nephropathy 1,,"Nephronophthisis-like nephropathy-1 (NPHPL1) is an autosomal recessive cystic kidney disease characterized by the onset of progressive renal insufficiency in childhood. End-stage renal disease occurs in the first 3 decades of life. The disorder may be associated with extrarenal manifestations, including hepatic and central nervous system involvement (summary by {2:O'Toole et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 ({256100}).",[613159],[93589],[Late-onset nephronophthisis],[16824],,,,, +GARD:18181,Active,Orphanet+OMIM,OMIM:617271,Subtype of disorder,[Clinical subtype],Nephronophthisis 20,,"Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by {1:Macia et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 ({256100}).",[617271],[93589],[Late-onset nephronophthisis],[16824],,,,, +GARD:18182,Active,Orphanet+OMIM,OMIM:602088,Subtype of disorder,[Clinical subtype],Nephronophthisis 2,[Nph2],,[602088],[93591],[Infantile nephronophthisis],[16825],,,,, +GARD:18183,Active,Orphanet+OMIM,OMIM:615382,Subtype of disorder,[Clinical subtype],Nephronophthisis 16,,,[615382],"[93591, 93592]","[Infantile nephronophthisis, Juvenile nephronophthisis]","[16825, 18645]",,,,, +GARD:18184,Active,Orphanet+OMIM,OMIM:146450,Subtype of disorder,[Morphological anomaly subtype],"Hypospadias 3, autosomal",,"For a phenotypic description and a discussion of genetic heterogeneity of hypospadias, see {300633}.",[146450],[95706],[Non-syndromic posterior hypospadias],[16840],,,,, +GARD:18185,Active,Orphanet+OMIM,OMIM:300633,Subtype of disorder,[Morphological anomaly subtype],"Hypospadias 1, x-linked",,"Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe. Due to developmental arrest of urethral fusion, the urethral opening is displaced along the ventral side of the penis. The opening can be located glanular, penile, or even more posterior in the scrotum or perineum. Although most children with this condition undergo surgery in their second year of life, serious medical, social, and sexual problems may still exist later in life (summary by {8:van der Zanden et al., 2011}). Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome ({300068}) and Opitz syndrome ({300000}).\n\n<Subhead> Genetic Heterogeneity of Hypospadias\n\nSee also HYSP2 ({300758}), caused by mutation in the MAMLD1 gene ({300120}) on chromosome Xq28; HYSP3 ({146450}), a familial form which has been mapped to chromosome 7q32.2-q36.1; and HYSP4 ({300856}), a susceptibility locus mapped to chromosome Xp11.22 and associated with variation in the DGKK gene ({300837}).",[300633],[95706],[Non-syndromic posterior hypospadias],[16840],,,,, +GARD:18186,Active,Orphanet+OMIM,OMIM:300758,Subtype of disorder,[Morphological anomaly subtype],"Hypospadias 2, x-linked",,,[300758],[95706],[Non-syndromic posterior hypospadias],[16840],,,,, +GARD:18187,Active,Orphanet+OMIM,OMIM:300856,Subtype of disorder,[Morphological anomaly subtype],"Hypospadias 4, x-linked, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of hypospadias, see HYSP1 ({300633}).",[300856],[95706],[Non-syndromic posterior hypospadias],[16840],,,,, +GARD:18188,Active,Orphanet+OMIM,OMIM:274400,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 1,"[hypothyroidism, congenital, due to dyshormonogenesis, 1, iodine accumulation, transport, or trapping defect, Thyroid hormonogenesis, genetic defect in, 1]","Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes ({11:Vono-Toniolo et al., 2005}). Dyshormonogenesis can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH; see {188540}) stimulation.\n\n{7:Park and Chatterjee (2005)} reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder.\n\n<Subhead> Genetic Heterogeneity of Thyroid Dyshormonogenesis\n\nOther forms of thyroid hormone dysgenesis include TDH2A ({274500}), caused by mutation in the thyroid peroxidase gene (TPO; {606765}) on 2p25; Pendred syndrome, a form of thyroid hormone dysgenesis associated with deafness (TDH2B; {274600}) and caused by mutation in the SLC26A4 gene ({605646}) on 7q31; TDH3 ({274700}), caused by mutation in the thyroglobulin gene (TG; {188450}) on 8q24; TDH4 ({274800}), caused by mutation in the iodotyrosine deiodinase gene (IYD; {612025}) on 6q25; TDH5 ({274900}), caused by mutation in the DUOXA2 gene ({612772}) on 15q21; and TDH6 ({607200}), caused by mutation in the DUOX2 gene ({606759}) on 15q21.",[274400],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18189,Active,Orphanet+OMIM,OMIM:274500,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 2a,"[Thyroid hormonogenesis, genetic defect in, 2a, hypothyroidism, congenital, due to dyshormonogenesis, 2a, iodide peroxidase deficiency, thyroid peroxidase deficiency]","Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes ({29:Vono-Toniolo et al., 2005}). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency ({22:Park and Chatterjee, 2005}). Defects in TPO cause a severe form of congenital hypothyroidism characterized by a complete and immediate release of accumulated radioiodide from the thyroid after sodium perchlorate administration ({4:Bakker et al., 2000}). This release of radioiodide represents total iodine organification defect (TIOD), a disruption of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide and bound to tyrosine residues in thyroglobulin (TG; {188450}) to form iodotyrosine.",[274500],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18190,Active,Orphanet+OMIM,OMIM:274700,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 3,"[hypothyroidism, congenital, due to dyshormonogenesis, 3, Thyroid hormonogenesis, genetic defect in, 3]","{10:Kanou et al. (2007)} reviewed characteristics of thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. This form of thyroid dyshormonogenesis has an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive manner, the disorder in the majority of patients causes large goiters of elastic and soft consistency. Although the degree of thyroid dysfunction varies considerably among patients with defective TG synthesis, patients usually have a relatively high serum free T3 concentration with disproportionately low free T4 level. The maintenance of relatively high FT3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.",[274700],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18191,Active,Orphanet+OMIM,OMIM:274800,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 4,"[iodotyrosine dehalogenase deficiency, deiodinase deficiency, Thyroid hormonogenesis, genetic defect in, 4, hypothyroidism, congenital, due to dyshormonogenesis, 4]",,[274800],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18192,Active,Orphanet+OMIM,OMIM:274900,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 5,"[Thyroid hormonogenesis, genetic defect in, 5, hypothyroidism, congenital, due to dyshormonogenesis, 5]",,[274900],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18193,Active,Orphanet+OMIM,OMIM:607200,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 6,"[Thyroid hormonogenesis, genetic defect in, 6, hypothyroidism, congenital, due to dyshormonogenesis, 6]",,[607200],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18194,Active,Orphanet+OMIM,OMIM:619126,Disorder,[Disease],Immunodeficiency 75,,"Immunodeficiency-75 (IMD75) is an autosomal recessive immunologic disorder characterized by immunodeficiency, immune dysregulation, and the development of lymphoproliferative disorders, including lymphoma. Affected individuals usually present in infancy with severe and recurrent infections, mainly viral and affecting the respiratory tract. Some patients may have autoimmune cytopenias, anemia, or thrombocytopenia. Patients also develop hepatosplenomegaly, lymphadenopathy, lymphoproliferative disorders, and various types of T- or B-cell lymphomas. Immunologic work-up shows decreased class-switched B cells, impaired B-cell terminal differentiation, and hypo- or hypergammaglobulinemia. There is skewed differentiation and dysregulation of T cells, as well as possibly disrupted hematopoiesis. Additional features include failure to thrive and global developmental delay. The phenotype may be reminiscent of ALPS ({601859}), including laboratory evidence of impaired Fas-dependent T-cell apoptosis. Although hematopoietic stem cell transplantation may be effective treatment, many patients die in childhood (summary by {2:Stremenova Spegarova et al., 2020}).",[619126],[98291],[Lymphoproliferative disease associated with primary immune disease],[16855],,,,, +GARD:18195,Active,Orphanet+OMIM,OMIM:277450,Subtype of disorder,[Disease subtype],"Vitamin k-dependent clotting factors, combined deficiency of, 1","[multiple coagulation factor deficiency iii, fmfd iii, factors ii, vii, ix, and x, combined deficiency of, familial multiple coagulation factor deficiency iii, glutamic acid, deficient gamma-carboxylation of, Vkcfd, vitamin k-dependent coagulation defect]","Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome. The pathomechanism is based on a reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors, as well as the anticoagulant factors protein C ({612283}) and protein S ({176880}). Posttranslational gamma-carboxylation of proteins enables the calcium-dependent attachment of the proteins to the phospholipid bilayer of membranes, an essential prerequisite for blood coagulation. Vitamin K1 acts as a cofactor for the vitamin K-dependent carboxylase in liver microsomes, GGCX.\n\n<Subhead> Genetic Heterogeneity of Combined Deficiency of Vitamin K-Dependent Clotting Factors\n\nCombined deficiency of vitamin K-dependent clotting factors-2 (VKFCD2; {607473}) is caused by mutation in the gene encoding vitamin K epoxide reductase (VKORC1; {608547}) on chromosome 16p11.",[277450],[98434],[Hereditary combined deficiency of vitamin K-dependent clotting factors],[16856],,,,, +GARD:18196,Active,Orphanet+OMIM,OMIM:607473,Subtype of disorder,[Disease subtype],"Vitamin k-dependent clotting factors, combined deficiency of, 2",,"Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome ({1:Fregin et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of combined deficiency of vitamin K-dependent clotting factors, see VKCFD1 ({277450}).",[607473],[98434],[Hereditary combined deficiency of vitamin K-dependent clotting factors],[16856],,,,, +GARD:18197,Active,Orphanet+OMIM,OMIM:614292,Subtype of disorder,[Disease subtype],"Myopia, high, with cataract and vitreoretinal degeneration",,,[614292],[98619],[Rare isolated myopia],[16859],,,,, +GARD:18198,Active,Orphanet+OMIM,OMIM:615431,Subtype of disorder,[Disease subtype],"Myopia 23, autosomal recessive",,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {3:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of myopia, see {160700}.",[615431],[98619],[Rare isolated myopia],[16859],,,,, +GARD:18199,Active,Orphanet+OMIM,OMIM:616289,Subtype of disorder,[Disease subtype],Optic atrophy 9,,,[616289],[98676],[Autosomal recessive isolated optic atrophy],[16860],,,,, +GARD:182,Active,Orphanet,ORPHA:1243,Disorder,[Disease],Best vitelliform macular dystrophy,"[BMD, BVMD, Best disease, Best macular dystrophy, Early-onset vitelliform macular dystrophy, Juvenile-onset vitelliform macular dystrophy, Polymorphic vitelline macular degeneration, Vitelliform macular dystrophy type 2]","Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.",[153700],,,,,Best vitelliform macular dystrophy,TRUE,FALSE,Active +GARD:1820,Active,Orphanet,ORPHA:873,Disorder,[Disease],Desmoid tumor,"[Aggressive fibromatosis, Desmoid type fibromatosis]","A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.",[135290],,,,,Desmoid tumor,TRUE,FALSE,Active +GARD:18200,Active,Orphanet+OMIM,OMIM:616732,Subtype of disorder,[Disease subtype],"Optic atrophy 10 with or without ataxia, mental retardation, and seizures",,,[616732],[98676],[Autosomal recessive isolated optic atrophy],[16860],,,,, +GARD:18201,Active,Orphanet+OMIM,OMIM:617302,Subtype of disorder,[Disease subtype],Optic atrophy 11,,"OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by {1:Hartmann et al., 2016}).\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[617302],[98676],[Autosomal recessive isolated optic atrophy],[16860],,,,, +GARD:18202,Active,Orphanet+OMIM,OMIM:604364,Subtype of disorder,[Disease subtype],"Epilepsy, familial focal, with variable foci 1","[Epilepsy, familial focal, with variable foci, epilepsy, partial, with variable foci]","Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete (summary by {7:Klein et al., 2012}). Detailed electrophysiologic, brain imaging, and/or histologic studies have indicated that some patients have subtle or clear evidence of focal cortical dysplasia (FCD) ({1:Baulac et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Familial Focal Epilepsy With Variable Foci\n\nSee also FFEVF2 ({617116}), caused by mutation in the NPRL2 gene ({607072}) on chromosome 3p21, FFEVF3 ({617118}), caused by mutation in the NPRL3 gene ({600928}) on chromosome 16p13, and FFEVF4 ({617935}), caused by mutation in the SCN3A gene ({182391}) on chromosome 2q24.",[604364],[98820],[Familial focal epilepsy with variable foci],[13295],,,,, +GARD:18203,Active,Orphanet+OMIM,OMIM:617116,Subtype of disorder,[Disease subtype],"Epilepsy, familial focal, with variable foci 2",,"Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by {1:Ricos et al., 2016}).\n\nFor a discussion of genetic heterogeneity of FFEVF, see FFEVF1 ({604364}).",[617116],[98820],[Familial focal epilepsy with variable foci],[13295],,,,, +GARD:18204,Active,Orphanet+OMIM,OMIM:617118,Subtype of disorder,[Disease subtype],"Epilepsy, familial focal, with variable foci 3",,"Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by {1:Ricos et al., 2016}).\n\nFor a discussion of genetic heterogeneity of FFEVF, see FFEVF1 ({604364}).",[617118],[98820],[Familial focal epilepsy with variable foci],[13295],,,,, +GARD:18205,Active,Orphanet+OMIM,OMIM:263000,Subtype of disorder,[Disease subtype],"Interstitial pneumonitis, desquamative, familial","[Pneumonitis, desquamative interstitial, familial, interstitial lung disease, desquamative, ild, desquamative, pneumonia, desquamative interstitial, familial]","Interstitial lung disease (ILD), or pneumonitis, is a heterogeneous group of disorders characterized pathologically by expansion of the interstitial compartment of the lung by inflammatory cells. Fibrosis occurs in many cases ({12:Visscher and Myers, 2006}). See also interstitial lung disease-1 (ILD1; {619611}).\n\nDesquamative interstitial pneumonitis (DIP) was originally described as a pathologic entity by {7:Liebow et al. (1965)}. Lung biopsy shows diffuse and uniform filling of alveoli by clusters of cells which {7:Liebow et al. (1965)} speculated to be 'desquamated pneumocytes.' Since then, these cells have been shown primarily to be pigmented alveolar macrophages. Other features include thickened alveolar septa with an infiltrate of inflammatory cells and plump, cuboidal type II pneumocytes. Mild collagen deposition without architectural distortion or honeycombing may be present. Different forms of ILD represent pathologic classifications based on histologic patterns rather than clinical diagnoses and may occur in a variety of clinical contexts ({12:Visscher and Myers, 2006}).\n\nAlthough DIP occurs most often as a sporadic disorder in adults during the third to fifth decade of life and is highly associated with smoking ({3:Carrington et al., 1978}), reports of a familial form with onset in infancy and early death suggest a genetic basis ({9:Sharief et al., 1994}).\n\nCases of DIP reported in infants are often more severe and refractory to treatment than those reported in adults ({8:Nogee et al., 2001}).",[263000],[98852],[Desquamative interstitial pneumonia],[16864],,,,, +GARD:18206,Active,Orphanet+OMIM,OMIM:612998,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 4, autosomal dominant",[Emery-dreifuss muscular dystrophy 4 with variable features],,[612998],[98853],[Autosomal dominant Emery-Dreifuss muscular dystrophy],[16865],,,,, +GARD:18207,Active,Orphanet+OMIM,OMIM:612999,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 5, autosomal dominant",,,[612999],[98853],[Autosomal dominant Emery-Dreifuss muscular dystrophy],[16865],,,,, +GARD:18208,Active,Orphanet+OMIM,OMIM:614302,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 7, autosomal dominant",,"Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by {1:Liang et al., 2011}).\n\nFor a discussion of genetic heterogeneity of EDMD, see {310300}.",[614302],[98853],[Autosomal dominant Emery-Dreifuss muscular dystrophy],[16865],,,,, +GARD:18209,Active,Orphanet+OMIM,OMIM:616516,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 3, autosomal recessive",,"Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by {1:Jimenez-Escrig et al., 2012}).\n\nFor a discussion of genetic heterogeneity of EDMD, see {310300}.",[616516],[98855],[Autosomal recessive Emery-Dreifuss muscular dystrophy],[16866],,,,, +GARD:18210,Active,Orphanet+OMIM,OMIM:603034,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 5","[engel congenital myasthenic syndrome, cms ic, formerly, Endplate acetylcholinesterase deficiency, myasthenic syndrome, congenital, engel type, congenital myasthenic syndrome type ic, formerly]","Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (summary by {4:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[603034],[98915],[Synaptic congenital myasthenic syndromes],[16872],,,,, +GARD:18211,Active,Orphanet+OMIM,OMIM:139393,Subtype of disorder,[Disease subtype],"Guillain-barre syndrome, familial","[Polyneuropathy, inflammatory demyelinating, acute]","Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis ({13:Yuki and Tsujino, 1995}; {5:Koga et al., 2005}). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection ({9:Nachamkin, 2001}).\n\nAlthough rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance ({3:Geleijns et al., 2004}).",[139393],[98916],[Acute inflammatory demyelinating polyradiculoneuropathy],[16873],,,,, +GARD:18212,Active,Orphanet+OMIM,OMIM:122000,Subtype of disorder,[Disease subtype],"Corneal dystrophy, posterior polymorphous, 1","[maumenee corneal dystrophy, corneal dystrophy, hereditary polymorphous posterior, Posterior polymorphous corneal dystrophy, corneal endothelial dystrophy 1, autosomal dominant, formerly]","Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells ({17:Krafchak et al., 2005}). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life.\n\nClinically, PPCD is characterized by vesicles, bands, and polymorphous opacities at the level of the Descemet membrane and corneal endothelium. Peripheral anterior iris adhesions, iris atrophy, pupillary ectropion, and corectopia may also develop. Occasional severe visual disability results from secondary glaucoma or corneal edema. On ultrastructural examination, corneal endothelial cells show fibroblastic and epithelial-like transformation (summary by {19:Liskova et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Posterior Polymorphous Corneal Dystrophy\n\nOther forms of PPCD include PPCD2 ({609140}), caused by mutation in the COL8A2 gene ({120252}) on chromosome 1p34.3; PPCD3 ({609141}), caused by mutation in the ZEB1 gene ({189909}) on chromosome 10p; and PPCD4 ({618031}), caused by mutation in the GRHL2 gene ({608576}) on chromosome 8q22.",[122000],[98973],[Posterior polymorphous corneal dystrophy],[16882],,,,, +GARD:18213,Active,Orphanet+OMIM,OMIM:609140,Subtype of disorder,[Disease subtype],"Corneal dystrophy, posterior polymorphous, 2",,,[609140],[98973],[Posterior polymorphous corneal dystrophy],[16882],,,,, +GARD:18214,Active,Orphanet+OMIM,OMIM:609141,Subtype of disorder,[Disease subtype],"Corneal dystrophy, posterior polymorphous, 3",,,[609141],[98973],[Posterior polymorphous corneal dystrophy],[16882],,,,, +GARD:18215,Active,Orphanet+OMIM,OMIM:618031,Subtype of disorder,[Disease subtype],"Corneal dystrophy, posterior polymorphous, 4",,"PPCD4 is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape. There is inter- and intrafamilial as well as intraindividual variability. Symptoms can include blurred vision due to corneal edema, reduced visual acuity, secondary glaucoma, and corectopia; some affected individuals are asymptomatic. Rare patients have undergone enucleation for painful eye ({1:Liskova et al., 2018}).\n\nFor a discussion of genetic heterogeneity of PPCD, see {122000}.",[618031],[98973],[Posterior polymorphous corneal dystrophy],[16882],,,,, +GARD:18216,Active,Orphanet+OMIM,OMIM:136800,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 1","[Corneal dystrophy, fuchs endothelial, early-onset]","Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane. These excrescences, called guttae, are the clinical hallmark of FECD and become more numerous with progression of the disease. As the endothelial layer develops confluent guttae in the central cornea, the cells are no longer able to keep the cornea dehydrated and clear (summary by {2:Baratz et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Fuchs Endothelial Corneal Dystrophy\n\nMore common, late-onset forms of FECD have been shown to be caused by mutation in the SLC4A11 gene ({610206}) on chromosome 20p13 (FECD4; {613268}), in the ZEB1 gene ({189909}) on chromosome 10p11.2 (FECD6; {613270}), and in the AGBL1 gene ({615496}) on chromosome 15q25 (FECD8; {615523}).\n\nOther loci for late-onset FECD have been identified on chromosomes 13pter-q12.13 (FECD2; {610158}), 18q21.2-q21.32 (FECD3; {613267}), 5q33.1-q35.2 (FECD5; {613269}), and 9p (FECD7; {613271}).",[136800],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18217,Active,Orphanet+OMIM,OMIM:610158,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 2",,"Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision ({10:Sundin et al., 2006}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[610158],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18218,Active,Orphanet+OMIM,OMIM:613267,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 3","[corneal dystrophy, fuchs endothelial, late-onset, Fcd2 locus]","Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision ({10:Sundin et al., 2006}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[613267],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18219,Active,Orphanet+OMIM,OMIM:613268,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 4","[Corneal dystrophy, fuchs endothelial, late-onset]","Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {1:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[613268],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18220,Active,Orphanet+OMIM,OMIM:613269,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 5",,"Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {2:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Fuchs corneal dystrophy, see FECD1 ({136800}).",[613269],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18221,Active,Orphanet+OMIM,OMIM:613270,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 6","[Corneal dystrophy, fuchs endothelial, late-onset]","Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {2:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[613270],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18222,Active,Orphanet+OMIM,OMIM:613271,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 7",,"For a phenotypic description and a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[613271],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18223,Active,Orphanet+OMIM,OMIM:615523,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 8",,"Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {1:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of FECD, see FECD1 ({136800}).",[615523],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18224,Active,Orphanet+OMIM,OMIM:231300,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary congenital, a","[buphthalmos, Glaucoma, congenital]","Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an incidence ranging from 1 in 30,000 to 1 in 1,250. Signs of the disease include early onset (birth to 3 years of age), increased intraocular pressure, increased corneal diameter, enlarged globe, Haab striae (breaks in Descemet membrane), corneal edema, and optic nerve head cupping. Congenital glaucoma is a chronic disease and a serious cause of blindness worldwide (summary by {1:Azmanov et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Primary Congenital Glaucoma\n\nPrimary congenital glaucoma-3B (GLC3B; {600975}) maps to chromosome 1p36.2-p36.1. GLC3C ({613085}) maps to chromosome 14q24.3. GLC3D ({613086}) is caused by mutation in the LTBP2 gene ({602091}) located on chromosome 14q24 but outside the locus for GLC3C. GLC3E ({617272}) is caused by mutation in the TEK gene ({600221}) on chromosome 9p21.",[231300],"[98977, 98976]","[Juvenile glaucoma, Congenital glaucoma]","[16883, 2485]",,,,, +GARD:18225,Active,Orphanet+OMIM,OMIM:613085,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary congenital, c",,"For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A ({231300}).",[613085],[98976],[Congenital glaucoma],[2485],,,,, +GARD:18226,Active,Orphanet+OMIM,OMIM:613086,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary congenital, d",,,[613086],[98976],[Congenital glaucoma],[2485],,,,, +GARD:18227,Active,Orphanet+OMIM,OMIM:617272,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary congenital, e",,,[617272],[98976],[Congenital glaucoma],[2485],,,,, +GARD:18228,Active,Orphanet+OMIM,OMIM:608695,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, j",,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}.\n\n{1:Wiggs et al. (2004)} identified 25 pedigrees with typical juvenile-onset primary open angle glaucoma (JOAG), demonstrating autosomal dominant inheritance. They sequenced the myocilin gene (MYOC; {601652}) in probands from each family and found mutations in 8%. To identify novel genes responsible for JOAG, they used families that did not have myocilin mutations for a genomewide screen. Multipoint linkage analysis of chromosome 9 markers achieved a peak hlod score of 4.0 between markers D9S1803 and D9S196 on chromosome 9q22. Critical recombinants identified a 9-cM region between markers D9S1841 and D9S271.",[608695],[98977],[Juvenile glaucoma],[16883],,,,, +GARD:18229,Active,Orphanet+OMIM,OMIM:608696,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, k",,"For a general phenotypic description and a discussion of genetic heterogeneity of open angle glaucoma (POAG), see {137760}.",[608696],[98977],[Juvenile glaucoma],[16883],,,,, +GARD:1823,Active,Orphanet,ORPHA:1799,Disorder,[Clinical syndrome],Familial developmental dysphasia,"[Billard-Toutain-Maheut syndrome, FOXP2-associated dysphasia]","Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.",[600117],,,,,Developmental dysphasia familial,TRUE,FALSE,Active +GARD:18230,Active,Orphanet+OMIM,OMIM:610535,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, m",,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}.",[610535],[98977],[Juvenile glaucoma],[16883],,,,, +GARD:18231,Active,Orphanet+OMIM,OMIM:611274,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, n",,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}.",[611274],[98977],[Juvenile glaucoma],[16883],,,,, +GARD:18232,Active,Orphanet+OMIM,OMIM:605728,Subtype of disorder,[Clinical subtype],Cataract 25,,,[605728],[98985],[Early-onset sutural cataract],[16885],,,,, +GARD:18233,Active,Orphanet+OMIM,OMIM:115800,Subtype of disorder,[Clinical subtype],Cataract 29,,"Coralliform cataracts are characterized by multiple coral-like white opacities that radiate out bilaterally in an axial direction from the center of the lens in a fusiform or spindle-shaped fashion but never actually reach the capsule (summary by {1:Gao et al., 2005}).",[115800],[98990],[Coralliform cataract],[16886],,,,, +GARD:18234,Active,Orphanet+OMIM,OMIM:116400,Subtype of disorder,[Clinical subtype],Cataract 41,"[Cataract 41, congenital nuclear type]","Cataract is an opacification of the lens or lens capsule in the eye and is the most common cause of childhood blindness in the world, with an incidence of 1 to 3 per 10,000 live births. If untreated in infancy or childhood, it frequently causes visual impairment and can result in irreversible amblyopia. Nuclear cataract refers to opacification within the embryonal and/or fetal nuclei of the lens (summary by {1:Berry et al., 2013}).",[116400],[98991],[Early-onset nuclear cataract],[16887],,,,, +GARD:18235,Active,Orphanet+OMIM,OMIM:607304,Subtype of disorder,[Clinical subtype],Cataract 27,,,[607304],[98991],[Early-onset nuclear cataract],[16887],,,,, +GARD:18236,Active,Orphanet+OMIM,OMIM:611391,Subtype of disorder,[Clinical subtype],"Cataract 33, multiple types",,"Mutations in the BFSP1 gene have been found to cause multiple types of cataract, which have been described as cortical, nuclear, and progressive punctate lamellar. Both autosomal dominant and autosomal recessive modes of inheritance have been reported.",[611391],[98991],[Early-onset nuclear cataract],[16887],,,,, +GARD:18237,Active,Orphanet+OMIM,OMIM:169150,Subtype of disorder,[Disease subtype],"Macular dystrophy, patterned, 1","[butterfly dystrophy of retinal pigment epithelium, Patterned dystrophy of retinal pigment epithelium, macular dystrophy, butterfly-shaped pigmentary]","Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see {268000})-like changes have sometimes been observed in association with patterned dystrophies (summary by {10:Vaclavik et al., 2012}).\n\nThree main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see {179840} and {267800}), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea.\n\n<Subhead> Genetic Heterogeneity of Patterned Macular Dystrophy\n\nAlso see MDPT2 ({608970}), caused by mutation in the CTNNA1 gene ({116805}) on chromosome 5q31; and MDPT3 ({617111}), caused by mutation in the MAPKAPK3 gene ({602130}) on chromosome 3p21.",[169150],[99001],[Butterfly-shaped pigment dystrophy],[16890],,,,, +GARD:18238,Active,Orphanet+OMIM,OMIM:608970,Subtype of disorder,[Disease subtype],"Macular dystrophy, patterned, 2","[Macular dystrophy, butterfly-shaped pigmentary, 2]","Butterfly-shaped pigmentary macular dystrophy is an autosomal dominant eye disease characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly (summary by {4:van Lith-Verhoeven et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of patterned macular dystrophy, see {169150}.",[608970],[99001],[Butterfly-shaped pigment dystrophy],[16890],,,,, +GARD:18239,Active,Orphanet+OMIM,OMIM:179840,Subtype of disorder,[Disease subtype],Reticular dystrophy of retinal pigment epithelium,,"Reticular dystrophy is a disorder of protean manifestations occurring in the retinal pigment epithelium (RPE) with little or no involvement of the neurosensory retina. The disorder may be detected at an early age and may be slowly progressive, but the prognosis for visual acuity is good. Abnormalities of dark adaptation and nyctalopia may develop with time. Electrophysiologic testing may show a normal electroretinogram (ERG), subnormal electrooculogram (EOG), and subnormal results of dark adaptation studies (summary by {2:Kingham et al., 1978}).",[179840],[99002],[Reticular dystrophy of the retinal pigment epithelium],[16891],,,,, +GARD:18240,Active,Orphanet+OMIM,OMIM:267800,Subtype of disorder,[Disease subtype],"Retinal dystrophy, reticular pigmentary, of posterior pole",,"Reticular pigmentary retinal dystrophy is a form of patterned dystrophy (see MDPT1, {169150}) characterized by a reticular pattern of pigmentation that likely appears in infancy and may be fully developed at age 15 years. Indirect funduscopy has shown that the condition is bilateral and symmetric and that the pigmentary deposits are localized below the neuroepithelium, very likely in the pigment epithelium. The reticulum extends from the macula in all directions, sparing the midperiphery and periphery. Visual acuity is unaffected or only minimally affected in advanced stages. Retinal function testing is normal, although the electrooculogram and dark adaptation can be at the lower limit of normal values (summary by {2:Schauwvlieghe et al., 2013}).",[267800],[99002],[Reticular dystrophy of the retinal pigment epithelium],[16891],,,,, +GARD:18241,Active,Orphanet+OMIM,OMIM:617175,Subtype of disorder,[Disease subtype],Retinal dystrophy with or without extraocular anomalies,,,[617175],[99002],[Reticular dystrophy of the retinal pigment epithelium],[16891],,,,, +GARD:18242,Active,Orphanet+OMIM,OMIM:271950,Subtype of disorder,[Clinical subtype],"Subaortic stenosis, membranous",,{1:Gale et al. (1974)} reported this anomaly in a brother and sister. No familial cases had been reported previously. {2:Richardson et al. (1991)} described one family in which a mother and daughter were affected and a second family in which a boy was found to have a subaortic ridge after repair of aortic coarctation and a maternal uncle likewise had 'fixed' subaortic stenosis.,[271950],[99051],[Discrete fixed membranous subaortic stenosis],[16892],,,,, +GARD:18243,Active,Orphanet+OMIM,OMIM:119570,Subtype of disorder,[Morphological anomaly subtype],Cleft soft palate,,{1:Jenkins and Stady (1980)} described a family with simple cleft palate (cleft of the soft palate) in 7 males of 5 sibships in 4 generations.,[119570],[99772],[Cleft velum],[16907],,,,, +GARD:18244,Active,Orphanet+OMIM,OMIM:106600,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 1","[Hypodontia/oligodontia 1, tooth agenesis, familial, second premolars and third molars, absence of]","Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by {3:Gorlin et al. (1990)}. The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see {114600} and {302400}.\n\nSelective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete ({8:Salinas, 1978}).\n\n<Subhead> Genetic Heterogeneity of Selective Tooth Agenesis\n\nOther forms of selective tooth agenesis include STHAG2 ({602639}), mapped to chromosome 16q12; STHAG3 ({604625}), caused by mutation in the PAX9 gene ({167416}) on chromosome 14q12; STHAG4 ({150400}), caused by mutation in the WNT10A gene ({606268}) on chromosome 2q35; STHAG5 ({610926}), mapped to chromosome 10q11; STHAG7 ({616724}), caused by mutation in the LRP6 gene ({603507}) on chromosome 12p13; STHAG8 ({617073}), caused by mutation in the WNT10B gene ({601906}) on chromosome 12q13; STHAG9 ({617275}), caused by mutation in the GREM2 gene ({608832}) on chromosome 1q43; and STHAGX1 ({313500}), caused by mutation in the EDA gene ({300451}) on chromosome Xq13.\n\nA type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; {601216}).\n\nOf 34 unrelated patients with nonsyndromic tooth agenesis, {9:van den Boogaard et al. (2012)} found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia.\n\n<Subhead> Genotype-Phenotype Correlations\n\n{12:Yu et al. (2016)} observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.",[106600],[99798],[Oligodontia],[16908],,,,, +GARD:18245,Active,Orphanet+OMIM,OMIM:150400,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 4","[lateral incisors, absence of, Tooth agenesis, selective, 4, with or without ectodermal dysplasia, lateral incisors, pegged or missing, succedaneous teeth, agenesis of]",,[150400],[99798],[Oligodontia],[16908],,,,, +GARD:18246,Active,Orphanet+OMIM,OMIM:313500,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, x-linked, 1","[Hypodontia/oligodontia, x-linked, 1]",,[313500],[99798],[Oligodontia],[16908],,,,, +GARD:18247,Active,Orphanet+OMIM,OMIM:604625,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 3",[Hypodontia/oligodontia 3],,[604625],[99798],[Oligodontia],[16908],,,,, +GARD:18248,Active,Orphanet+OMIM,OMIM:610926,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 5",,"For a general phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 ({106600}).",[610926],[99798],[Oligodontia],[16908],,,,, +GARD:18249,Active,Orphanet+OMIM,OMIM:616724,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 7",,,[616724],[99798],[Oligodontia],[16908],,,,, +GARD:18250,Active,Orphanet+OMIM,OMIM:617073,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 8",,,[617073],[99798],[Oligodontia],[16908],,,,, +GARD:18251,Active,Orphanet+OMIM,OMIM:268200,Subtype of disorder,[Disease subtype],"Myoglobinuria, acute recurrent, autosomal recessive","[rhabdomyolysis, acute recurrent, Myoglobinuria, familial paroxysmal paralytic]","Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome ({232600}), carnitine palmitoyltransferase deficiency (see {255110}), and the Creteil variety of phosphoglycerate kinase deficiency ({311800}), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. ({6:Ramesh and Gardner-Medwin, 1992}).\n\nSee {160010} for discussion of a possible autosomal dominant form of myglobinuria.\n\nSevere rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia ({145600}), an autosomal dominant disorder.",[268200],[99845],[Genetic recurrent myoglobinuria],[16916],,,,, +GARD:18252,Active,Orphanet+OMIM,OMIM:615889,Subtype of disorder,[Clinical subtype],"Leukoencephalopathy, progressive, with ovarian failure",,"Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by {1:Dallabona et al., 2014}).",[615889],[99853],[Ovarioleukodystrophy],[16918],,,,, +GARD:18253,Active,Orphanet+OMIM,OMIM:145000,Subtype of disorder,[Disease subtype],Hyperparathyroidism 1,"[Hyperparathyroidism, familial isolated primary]","Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by {28:Shibata et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Familial Hyperparathyroidism\n\nHyperparathyroidism-2 with jaw tumors (HRPT2; {145001}), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3; {610071}) has been mapped to chromosome 2p14-p13.3. HRPT4 ({617343}) is caused by mutation in the GCM2 gene ({603716}) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT; {239200}) is caused by mutation in the CASR gene ({601199}) on chromosome 3q.\n\nFamilial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, {131100}).\n\nFamilial hypocalciuric hypercalcemia (see {145980}) can be confused with familial primary hyperparathyroidism.",[145000],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18254,Active,Orphanet+OMIM,OMIM:600166,Subtype of disorder,[Disease subtype],"Hyperparathyroidism, primary, caused by water clear cell hyperplasia",,"Primary hyperparathyroidism due to water clear cell hyperplasia (WCCH) shows a strong association with blood group O ({2:Tisell et al., 1981}). {1:Hedbaeck and Oden (1994)} compared the blood groups of 32 cases of WCCH with those of 2 control groups, one with primary hyperparathyroidism due to other causes and the other with the population in a geographically defined area of Sweden. The blood group distribution differed between the 2 control groups, but the findings in the patients with WCCH differed with high significance (P = 0.00040). This association was thought to be by far the strongest association with the ABO system demonstrated to date.",[600166],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18255,Active,Orphanet+OMIM,OMIM:610071,Subtype of disorder,[Disease subtype],Hyperparathyroidism 3,,"For a phenotypic description and a discussion of genetic heterogeneity of familial primary hyperparathyroidism, see HRPT1 ({145000}).",[610071],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18256,Active,Orphanet+OMIM,OMIM:617343,Subtype of disorder,[Disease subtype],Hyperparathyroidism 4,,,[617343],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18257,Active,Orphanet+OMIM,OMIM:618883,Subtype of disorder,[Disease subtype],"Hypoparathyroidism, familial isolated, 2",,"Patients with familial isolated hypoparathyroidism-2 (FIH2) usually present with seizures, caused by hypocalcemia, in early life. Serum parathyroid hormone (PTH; {168450}) levels are low to undetectable. Hyperphosphatemia is present, and levels of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D may be within the normal range. Development can be normal if hypocalcemia is treated with calcium and vitamin D supplementation ({5:Ding et al., 2001}). Some patients have been found to lack parathyroid glands ({8:Thomee et al., 2005}).\n\nFor a discussion of genetic heterogeneity of familial isolated hypoparathyroidism, see FIH1 ({146200}).",[618883],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18258,Active,Orphanet+OMIM,OMIM:617607,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type iiib",,"Hypomineralized amelogenesis imperfecta type IIIB is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places ({1:Smith et al., 2016}).",[617607],[100032],[Hypocalcified amelogenesis imperfecta],[16931],,,,, +GARD:18259,Active,Orphanet+OMIM,OMIM:300909,Subtype of disorder,[Disease subtype],"Angioedema induced by ace inhibitors, susceptibility to",,"Approximately 40 million people take ACE inhibitors (ACEi) to treat hypertension and cardiovascular disease. A small proportion of white patients who take ACEi (0.1-0.7%) develop angioedema (AEACEI) ({7:Israili and Hall, 1992}; {8:Vleeming et al., 1998}), a potentially life-threatening side effect characterized by swelling of the face, lips, tongue, and airway that can lead to suffocation and death if severe. ACEi-associated angioedema is 4 to 5 times more prevalent among African Americans ({3:Brown et al., 1996}; {5:Coats, 2002}). Other risk factors include female sex, smoking, immunosuppressant therapy, and seasonal allergies. The pathophysiology of ACEi-associated angioedema is thought to be related to increased circulating bradykinin, which is normally degraded by ACE. During pharmacologic ACE inhibition, bradykinin is primarily degraded by aminopeptidase P (summary by {6:Duan et al., 2005} and {9:Woodard-Grice et al., 2010}). Aminopeptidase P is encoded by 3 genes: XPNPEP1 ({602443}) on chromosome 10q25, XPNPEP2 ({300145}) on chromosome Xq25, and XPNPEP3 ({613553}) on chromosome 22q13.",[300909],[100057],[Renin-angiotensin-aldosterone system-blocker-induced angioedema],[16936],,,,, +GARD:18260,Active,Orphanet+OMIM,OMIM:270420,Subtype of disorder,[Disease subtype],"Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies","[Sodium diarrhea, congenital, diarrhea 3, secretory sodium, congenital, syndromic]",,[270420],[103908],[Congenital sodium diarrhea],[16945],,,,, +GARD:18261,Active,Orphanet+OMIM,OMIM:616868,Subtype of disorder,[Disease subtype],"Diarrhea 8, secretory sodium, congenital","[Diarrhea, congenital sodium]",,[616868],[103908],[Congenital sodium diarrhea],[16945],,,,, +GARD:18262,Active,Orphanet+OMIM,OMIM:158590,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type iia","[charcot-marie-tooth disease, spinal, iia, neuropathy, distal hereditary motor, type iia, spinal muscular atrophy, distal, adult, autosomal dominant, iia, Hmn iia]",,[158590],[139525],[Distal hereditary motor neuropathy type 2],[16954],,,,, +GARD:18263,Active,Orphanet+OMIM,OMIM:608634,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type iib","[neuropathy, distal hereditary motor, type iib, Hmn iib]",,[608634],[139525],[Distal hereditary motor neuropathy type 2],[16954],,,,, +GARD:18264,Active,Orphanet+OMIM,OMIM:613376,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type iic","[neuropathy, distal hereditary motor, type iic, Hmn iic]",,[613376],[139525],[Distal hereditary motor neuropathy type 2],[16954],,,,, +GARD:18265,Active,Orphanet+OMIM,OMIM:615575,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type iid","[neuropathy, distal hereditary motor, type iid, spinal muscular atrophy, distal, autosomal dominant, calf-predominant, Hmn iid]","Distal hereditary motor neuronopathy type IID is an autosomal dominant neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by {2:Sumner et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1; {182960}).",[615575],[139525],[Distal hereditary motor neuropathy type 2],[16954],,,,, +GARD:18266,Active,Orphanet+OMIM,OMIM:600794,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type va","[Hmn 5a, neuronopathy, distal hereditary motor, type v, neuropathy, distal hereditary motor, type va, spinal muscular atrophy, distal, with upper limb predominance, dhmn va, spinal muscular atrophy, distal, type va, spinal muscular atrophy, distal, type v]","Distal hereditary motor neuronopathy type VA (dHMN5A or HMN5A) is an autosomal dominant neuromuscular disorder characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life. The disorder is slowly progressive, and most patients eventually have lower limb involvement with foot deformities. Although sensory impairment is uncommon, some patients show this feature, illustrating the phenotypic overlap with CMT2D. Rare patients may have pyramidal signs or hyperreflexia (summary by {3:Christodoulou et al., 1995} and {4:Dubourg et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN1 ({182960}).",[600794],[139536],[Distal hereditary motor neuropathy type 5],[16955],,,,, +GARD:18267,Active,Orphanet+OMIM,OMIM:614751,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type vb","[neuropathy, distal hereditary motor, type vb, spinal muscular atrophy, distal, type vb, Hmn vb, dhmn vb]","Distal hereditary motor neuronopathy type VB is an autosomal dominant neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by {1:Beetz et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1; {182960}).",[614751],[139536],[Distal hereditary motor neuropathy type 5],[16955],,,,, +GARD:18268,Active,Orphanet+OMIM,OMIM:619112,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type vc","[spinal muscular atrophy, distal, type 5c, Dhmn5c]","Distal hereditary motor neuronopathy type VC (dHMN5C or HMN5C) is an autosomal dominant neurologic disorder characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills. Some patients show spasticity and hyperreflexia, mainly of the lower limbs: these features overlap with those observed in Silver syndrome, an allelic disorder. In addition, some patients with BSCL2 mutations show features of Charcot-Marie-Tooth type 2 (CMT2) with distal sensory impairment. HMN5C, Silver syndrome (SPG17), and features of axonal sensorimotor peripheral neuropathy (CMT2) thus represent a phenotypic spectrum associated with heterozygous mutations in the BSCL2 gene. Individuals with the same mutation may manifest features consistent with any of those disorders; variability is even observed within the same family (summary by {8:Van de Warrenburg et al., 2006}; {7:Luigetti et al., 2010}; {4:Choi et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; {182960}).",[619112],[139536],[Distal hereditary motor neuropathy type 5],[16955],,,,, +GARD:18269,Active,Orphanet+OMIM,OMIM:158580,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type viia","[spinal muscular atrophy, distal, with vocal cord paralysis, Hmn viia, neuropathy, distal hereditary motor, type viia, dhmnvp, harper-young myopathy, dhmn7a]","Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by {1:Barwick et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; {182960}).",[158580],[139589],[Distal hereditary motor neuropathy type 7],[16960],,,,, +GARD:1827,Active,Orphanet,ORPHA:1666,Disorder,[Morphological anomaly],Dextrocardia,,"A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricle, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases.",,,,,,Dextrocardia,TRUE,FALSE,Active +GARD:18270,Active,Orphanet+OMIM,OMIM:607641,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type viib","[neuropathy, distal hereditary motor, with vocal cord paralysis, type viib, lower motor neuron disease, dynactin type, dhmn7b, Hmn viib, neuropathy, distal hereditary motor, type viib]",,[607641],[139589],[Distal hereditary motor neuropathy type 7],[16960],,,,, +GARD:18271,Active,Orphanet+OMIM,OMIM:613112,Subtype of disorder,[Disease subtype],"Macrothrombocytopenia, isolated, 1, autosomal dominant",,"Autosomal dominant isolated macrothrombocytopenia-1 (MACTHC1) is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Affected individuals do not have increased bleeding episodes and platelet function is normal; macrothrombocytopenia is usually an incidental laboratory finding ({3:Kunishima et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Isolated Macrothrombocytopenia\n\nSee also MACTHC2 ({619840}), caused by mutation in the TUBA8 gene ({605742}) on chromosome 22q11.",[613112],[140957],[Autosomal dominant macrothrombocytopenia],[16965],,,,, +GARD:18272,Active,Orphanet+OMIM,OMIM:615193,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 15","[Macrothrombocytopenia, autosomal dominant, actn1-related]","Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by {1:Kunishima et al., 2013}).",[615193],[140957],[Autosomal dominant macrothrombocytopenia],[16965],,,,, +GARD:18273,Active,Orphanet+OMIM,OMIM:619271,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 24",[Glanzmann thrombasthenia-like with macrothrombocytopenia 2],"Platelet-type bleeding disorder-24 (BDPLT24) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by {5:Kunishima et al., 2011} and {6:Nurden et al., 2011}).\n\nFor a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see {187800}.",[619271],[140957],[Autosomal dominant macrothrombocytopenia],[16965],,,,, +GARD:18274,Active,Orphanet+OMIM,OMIM:108760,Subtype of disorder,[Morphological anomaly subtype],Atresia of external auditory canal and conductive deafness,,,[108760],[141074],[External auditory canal aplasia/hypoplasia],[16969],,,,, +GARD:18275,Active,Orphanet+OMIM,OMIM:607842,Subtype of disorder,[Morphological anomaly subtype],"Aural atresia, congenital","[Aural atresia, congenital, with hyposmia]","{1:Altmann (1955)} was the first to describe a congenital aural atresia (CAA) classification, which has been modified over the years ({2:Cremers et al., 1988}; {7:Schuknecht, 1989}; {4:Jahrsdoerfer et al., 1992}). In CAA type I, there is bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity (summary by {3:Feenstra et al., 2011}).",[607842],[141074],[External auditory canal aplasia/hypoplasia],[16969],,,,, +GARD:18276,Active,Orphanet+OMIM,OMIM:610069,Subtype of disorder,[Disease subtype],"Polyposis syndrome, hereditary mixed, 2",,"Hereditary mixed polyposis syndrome-2 (HMPS2) is characterized by colonic polyps of mixed hyperplastic, adenomatous, and occasional juvenile types. Polyposis eventually progresses to colorectal cancer ({1:Cao et al., 2006}).\n\nFor a discussion of genetic heterogeneity of HMPS, see HMPS1 ({601228}).",[610069],[157794],[Hereditary mixed polyposis syndrome],[16981],,,,, +GARD:18277,Active,Orphanet+OMIM,OMIM:610313,Subtype of disorder,[Disease subtype],Crisponi/cold-induced sweating syndrome 2,,"Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by {2:Hahn et al., 2010}). {1:Buers et al. (2020)} provided a detailed review of Crisponi/CISS, including clinical features and evolution of the disease, noting that signs and symptoms in infancy can be severe and result in early death; clinical and genetic diagnoses. The authors also discussed pathogenesis, differential diagnosis, and recommended management and treatment.\n\n{1:Buers et al. (2020)} provided a detailed review of Crisponi/CISS, including clinical features, diagnosis, and evolution of the disease, differential diagnosis, pathogenesis, and recommended management and treatment.\n\nFor a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 ({272430}).",[610313],[157820],[Cold-induced sweating syndrome],[16983],,,,, +GARD:18278,Active,Orphanet+OMIM,OMIM:617055,Subtype of disorder,[Disease subtype],Perching syndrome,"[Crisponi/cold-induced sweating syndrome 3, formerly]","PERCHING syndrome is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating. Each letter of the PERCHING acronym represents 2 important phenotypic elements: Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations; and facial Gestalt/grimacing and Genitourinary abnormalities ({4:Jeffries et al., 2019}). Death in infancy or early childhood often occurs, although survival to the third decade has been reported. Some of the features, such as contractures, dysmorphic craniofacial features, and severe feeding difficulties, are reminiscent of Bohring-Opitz syndrome ({605039}) (summary by {5:Kanthi et al., 2019} and {3:Buers et al., 2020}).",[617055],[157820],[Cold-induced sweating syndrome],[16983],,,,, +GARD:18279,Active,Orphanet+OMIM,OMIM:611630,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 3",,"For a general description and a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL2 ({608096}).",[611630],[163717],[Benign familial mesial temporal lobe epilepsy],[17001],,,,, +GARD:18280,Active,Orphanet+OMIM,OMIM:614417,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 5",,,[614417],[163717],[Benign familial mesial temporal lobe epilepsy],[17001],,,,, +GARD:18281,Active,Orphanet+OMIM,OMIM:615697,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 6",,"For a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL1 ({600512}).",[615697],[163717],[Benign familial mesial temporal lobe epilepsy],[17001],,,,, +GARD:18282,Active,Orphanet+OMIM,OMIM:300643,Subtype of disorder,[Disease subtype],"Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked","[Rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked]",,[300643],[163721],[Rolandic epilepsy-speech dyspraxia syndrome],[17002],,,,, +GARD:18283,Active,Orphanet+OMIM,OMIM:614418,Subtype of disorder,[Disease subtype],"Febrile seizures, familial, 11","[Convulsions, familial febrile, 11]","Familial febrile seizures-11 is an autosomal recessive seizure disorder characterized by early childhood onset of simple or complex seizures associated with fever. These seizures usually remit later in childhood with no neurologic sequelae (summary by {1:Salzmann et al., 2012}).\n\nFor a general description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 ({121210}).",[614418],[165805],[Familial mesial temporal lobe epilepsy with febrile seizures],[17011],,,,, +GARD:18284,Active,Orphanet+OMIM,OMIM:163800,Subtype of disorder,[Disease subtype],Sick sinus syndrome 2,"[Sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation, sinus node disease, familial, autosomal dominant, atrial fibrillation with bradyarrhythmia, sinus bradycardia syndrome, familial, autosomal dominant]",,[163800],[166282],[Familial sick sinus syndrome],[13663],,,,, +GARD:18285,Active,Orphanet+OMIM,OMIM:614090,Subtype of disorder,[Disease subtype],"Sick sinus syndrome 3, susceptibility to",,"Sick sinus syndrome may be encountered at any age but is primarily a disease of the elderly and is often secondary to other cardiac disorders when diagnosed in younger individuals. Symptoms are often intermittent and/or nonspecific and include dizziness, syncope, and heart failure. The only effective treatment for symptomatic and irreversible sinus node dysfunction is permanent cardiac pacing, and sick sinus syndrome remains the most common indication for permanent pacemaker implantation (summary by {1:Holm et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of sick sinus syndrome, see SSS1 ({608567}).",[614090],[166282],[Familial sick sinus syndrome],[13663],,,,, +GARD:18286,Active,Orphanet+OMIM,OMIM:613339,Subtype of disorder,[Disease subtype],"Epilepsy, hot water, 1",,"Hot water epilepsy (HWE) is a form of reflex or sensory epilepsy in which seizures are precipitated by immersion in hot water or pouring of hot water over the head during bathing. The seizures are usually complex partial, but about 33% of patients experience secondary generalization. There are no additional neurologic abnormalities ({7:Satishchandra, 2003}).",[613339],[166412],[Hot water reflex epilepsy],[17028],,,,, +GARD:18287,Active,Orphanet+OMIM,OMIM:613340,Subtype of disorder,[Disease subtype],"Epilepsy, hot water, 2",,"For a general phenotypic description and a discussion of genetic heterogeneity of hot water epilepsy, see HWE1 ({613339}).",[613340],[166412],[Hot water reflex epilepsy],[17028],,,,, +GARD:18288,Active,Orphanet+OMIM,OMIM:273900,Subtype of disorder,[Etiological subtype],Thrombocytopenia 3,"[Thrombocytopenia, autosomal recessive, 3]","Thrombocytopenia-3 (THC3) is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by {3:Levin et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.",[273900],[168629],[Autosomal thrombocytopenia with normal platelets],[17041],,,,, +GARD:18289,Active,Orphanet+OMIM,OMIM:612004,Subtype of disorder,[Etiological subtype],Thrombocytopenia 4,"[Thrombocytopenia, autosomal dominant, 4]",,[612004],[168629],[Autosomal thrombocytopenia with normal platelets],[17041],,,,, +GARD:18290,Active,Orphanet+OMIM,OMIM:610102,Subtype of disorder,[Disease subtype],Complement component 7 deficiency,[C7 deficiency],"Patients with C7 deficiency have an increased susceptibility to recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis ({14:Nishizaka et al., 1996}).",[610102],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,,,, +GARD:18291,Active,Orphanet+OMIM,OMIM:612446,Subtype of disorder,[Disease subtype],Complement component 6 deficiency,[C6 deficiency],,[612446],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,,,, +GARD:18292,Active,Orphanet+OMIM,OMIM:613825,Subtype of disorder,[Disease subtype],Complement component 9 deficiency,[C9 deficiency],,[613825],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,,,, +GARD:18293,Active,Orphanet+OMIM,OMIM:608971,Subtype of disorder,[Disease subtype],Immunodeficiency 104,"[scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive]","Immunodeficiency-104 (IMD104) is an autosomal recessive disorder characterized by the onset of recurrent infections in early infancy. Manifestations may include oral thrush, fever, and failure to thrive. Some patients have lymphadenopathy and hepatosplenomegaly, whereas others have absence of lymph nodes and lack a thymic shadow. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, variable hypogammaglobulinemia, and normal NK cells. The disorder is caused by a defect in IL7 ({146660}) signaling due to a mutant IL7 receptor. Hematopoietic stem cell transplantation may be curative ({6:Roifman et al., 2000} and {1:Giliani et al., 2005}).\n\n{1:Giliani et al. (2005)} provided a detailed review of IL7R deficiency, including discussion of the IL7R gene and its function in the immune system, clinical features of the disorder, and experiences with hematopoietic stem cell transplant as treatment.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see {601457}.",[608971],[169160],[T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta],[17053],,,,, +GARD:18294,Active,Orphanet+OMIM,OMIM:610163,Subtype of disorder,[Disease subtype],Immunodeficiency 25,[Immunodeficiency due to defect in cd3-zeta],,[610163],[169160],[T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta],[17053],,,,, +GARD:18295,Active,Orphanet+OMIM,OMIM:615615,Subtype of disorder,[Disease subtype],Immunodeficiency 18,[Cd3-epsilon deficiency],"Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by {1:de Saint Basile et al., 2004}).",[615615],[169160],[T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta],[17053],,,,, +GARD:18296,Active,Orphanet+OMIM,OMIM:615617,Subtype of disorder,[Disease subtype],Immunodeficiency 19,"[scid, t cell-negative, b cell-positive, nk cell-positive, severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, Cd3-delta deficiency]","Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by {4:Yu et al., 2011}).",[615617],[169160],[T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta],[17053],,,,, +GARD:18297,Active,Orphanet+OMIM,OMIM:613658,Subtype of disorder,[Disease subtype],Rajab interstitial lung disease with brain calcifications 1,"[neurodevelopmental disorder with brain, liver, and lung abnormalities, formerly, developmental delay, small stature, microcephaly, and brain calcifications, formerly, Rajab interstitial lung disease with brain calcifications, rajab syndrome]","Rajab interstitial lung disease with brain calcifications-1 (RILCBC1) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by {3:Xu et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Rajab Interstitial Lung Disease with Brain Calcifications\n\nAlso see Rajab interstitial disease with brain calcifications-2 (RILDBC2; {619013}), caused by mutation in the FARSA gene ({602918}).",[613658],[178506],"[Brain calcification, Rajab type]",[17082],,,,, +GARD:18298,Active,Orphanet+OMIM,OMIM:619013,Subtype of disorder,[Disease subtype],Rajab interstitial lung disease with brain calcifications 2,,"Rajab interstitial lung disease with brain calcifications-2 (RILDBC2) is an autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts ({1:Krenke et al., 2019}).\n\nFor a discussion of genetic heterogeneity of RILDBC, see RILDBC1 ({613658}).",[619013],[178506],"[Brain calcification, Rajab type]",[17082],,,,, +GARD:18299,Active,Orphanet+OMIM,OMIM:608203,Subtype of disorder,[Disease subtype],Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis,[Neutrophil immunodeficiency syndrome],"Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections. Laboratory studies show leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities. Neutrophils showed decreased chemotaxis associated with actin polymerization abnormalities, as well as variably impaired oxidative responses. Hematopoietic stem cell transplant may be curative (summary by {1:Accetta et al., 2011}; review by {3:Lougaris et al., 2020}).\n\nIn a review of autosomal forms of chronic granulomatous disease (see {306400} for genetic heterogeneity of CGD), {4:Roos et al. (2021)} noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity.",[608203],[183707],[Neutrophil immunodeficiency syndrome],[17087],,,,, +GARD:183,Legacy,GARD,,,,,,,,,,,,Bubonic plague,TRUE,FALSE,Active +GARD:18300,Active,Orphanet+OMIM,OMIM:618987,Subtype of disorder,[Disease subtype],Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia,,,[618987],[183707],[Neutrophil immunodeficiency syndrome],[17087],,,,, +GARD:18301,Active,Orphanet+OMIM,OMIM:115300,Subtype of disorder,[Disease subtype],"Hypercarotenemia and vitamin a deficiency, autosomal dominant",,"In hypercarotenemia and vitamin A deficiency (HCVAD), serum beta-carotene levels are very high, but serum vitamin A levels are low to low-normal. Yellow or orange discoloration of skin may be present (summary by {4:Lindqvist et al., 2007}).\n\nSee also {277350} for possible autosomal recessive inheritance.",[115300],[199285],[Hereditary hypercarotenemia and vitamin A deficiency],[17090],,,,, +GARD:18302,Active,Orphanet+OMIM,OMIM:277350,Subtype of disorder,[Disease subtype],"Hypercarotenemia and vitamin a deficiency, autosomal recessive",,,[277350],[199285],[Hereditary hypercarotenemia and vitamin A deficiency],[17090],,,,, +GARD:18303,Active,Orphanet+OMIM,OMIM:600625,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 11,"[Cleft lip with or without cleft palate, nonsyndromic, 11]","Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril ({1:Castilla and Martinez-Frias, 1995}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip with or without cleft palate, see OFC1 ({119530}).",[600625],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18304,Active,Orphanet+OMIM,OMIM:608864,Subtype of disorder,[Morphological anomaly subtype],"Orofacial cleft 6, susceptibility to","[Cleft lip with or without cleft palate, nonsyndromic, 6]","Orofacial cleft-6 (OFD6) is characterized by isolated cleft lip or cleft palate or by cleft lip and cleft palate ({5:Rahimov et al., 2008}; {4:Pan et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see {119530}.",[608864],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18305,Active,Orphanet+OMIM,OMIM:608874,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 5,"[Cleft lip with or without cleft palate, nonsyndromic, 5]",,[608874],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18306,Active,Orphanet+OMIM,OMIM:613705,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 10,"[Cleft lip with or without cleft palate, nonsyndromic, 10]",,[613705],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18307,Active,Orphanet+OMIM,OMIM:616788,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 15,,,[616788],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18308,Active,Orphanet+OMIM,OMIM:618149,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 8,"[Cleft lip with or without cleft palate, nonsyndromic, 8]","Orofacial cleft-8 (OFC8) is characterized by unilateral or bilateral cleft lip ({2:Leoyklang et al., 2006}; {1:Basha et al., 2018}).",[618149],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18309,Active,Orphanet+OMIM,OMIM:612900,Subtype of disorder,[Disease subtype],"Cerebral palsy, spastic quadriplegic, 2",,"Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development ({5:Hughes and Newton, 1992}). Cerebral palsy can be classified according to the type of movement disorder: spastic cerebral palsy accounts for approximately 60% of cases and can be subdivided into hemiplegic, diplegic, quadriplegic, and monoplegic types, whereas other forms include athetoid/dyskinetic, ataxic ({605388}), and mixed ({4:Gustavson et al., 1969}).\n\n<Subhead> Genetic Heterogeneity of Spastic Quadriplegic Cerebral Palsy\n\nSee also CPSQ3 ({617008}), caused by mutation in the ADD3 gene ({601568}) on 10q24.\n\nRelated phenotypes that were formerly classified in the CPSQ series include spastic paraplegia-47 (SPG47; 614066), spastic paraplegia-50 (SPG50; 612936), spastic paraplegia-51 (SPG51; 613744), spastic paraplegia-52 (SPG52; 614067), and neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA; {619026}).",[612900],[210141],[Inherited congenital spastic tetraplegia],[17109],,,,, +GARD:18310,Active,Orphanet+OMIM,OMIM:617008,Subtype of disorder,[Disease subtype],"Cerebral palsy, spastic quadriplegic, 3",,,[617008],[210141],[Inherited congenital spastic tetraplegia],[17109],,,,, +GARD:18311,Active,Orphanet+OMIM,OMIM:245590,Subtype of disorder,[Disease subtype],"Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive","[Laron syndrome due to postreceptor defect, growth hormone insensitivity due to postreceptor defect]","Autosomal recessive growth hormone insensitivity syndrome with immune dysregulation-1 (GHISID1) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; {139250}). Affected individuals usually have failure to thrive, delayed bone age, and delayed puberty associated with decreased serum IGF1 ({147440}), IGFBP3 ({146732}), and ALS ({601489}). Some patients may have dysmorphic features. Most, but not all, patients have features of immune dysregulation, including chronic pulmonary disease, interstitial pneumonitis, recurrent or severe infections, eczema, and autoimmune arthritis. The immune features are highly variable (summary by {7:Kofoed et al., 2003}; {10:Vidarsdottir et al., 2006}).\n\nSee {262500} for a form of growth hormone insensitivity caused by mutation in the growth hormone receptor gene (GHR; {600946}).",[245590],[220465],[Laron syndrome with immunodeficiency],[17133],,,,, +GARD:18312,Active,Orphanet+OMIM,OMIM:618985,Subtype of disorder,[Disease subtype],"Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant",,"Autosomal dominant growth hormone insensitivity syndrome with immune dysregulation-2 (GHISID2) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; {139250}). Affected individuals usually have delayed bone age, delayed puberty, and decreased serum IGF1 ({147440}). Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease (summary by {1:Klammt et al., 2018}).",[618985],[220465],[Laron syndrome with immunodeficiency],[17133],,,,, +GARD:18313,Active,Orphanet+OMIM,OMIM:603284,Subtype of disorder,[Malformation syndrome subtype],Cerebral cavernous malformations 2,,,[603284],[221061],[Familial cerebral cavernous malformation],[13641],,,,, +GARD:18314,Active,Orphanet+OMIM,OMIM:603285,Subtype of disorder,[Malformation syndrome subtype],Cerebral cavernous malformations 3,,,[603285],[221061],[Familial cerebral cavernous malformation],[13641],,,,, +GARD:18315,Active,Orphanet+OMIM,OMIM:500003,Subtype of disorder,[Disease subtype],"Striatonigral degeneration, infantile, mitochondrial","[Bilateral striatal necrosis, infantile, mitochondrial, infantile bilateral striatal necrosis, mitochondrial]",,[500003],[225154],[Familial infantile bilateral striatal necrosis],[17141],,,,, +GARD:18316,Active,Orphanet+OMIM,OMIM:619115,Subtype of disorder,[Disease subtype],Combined osteogenesis imperfecta and ehlers-danlos syndrome 1,[Oieds syndrome 1],"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-1 (OIEDS1) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by {2:Cabral et al., 2007}; {4:Malfait et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome\n\nAlso see OIEDS2 ({619120}), caused by mutation in the COL1A2 gene ({120160}) on chromosome 7q21.",[619115],[230857],[Ehlers-Danlos/osteogenesis imperfecta syndrome],[17156],,,,, +GARD:18317,Active,Orphanet+OMIM,OMIM:619120,Subtype of disorder,[Disease subtype],Combined osteogenesis imperfecta and ehlers-danlos syndrome 2,[Oieds syndrome 2],"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-2 (OIEDS2) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by {4:Raff et al., 2000} and {1:Malfait et al., 2013}).\n\nFor a discussion of genetic heterogeneity of combined osteogenesis imperfecta and Ehlers-Danlos syndrome, see {619115}.",[619120],[230857],[Ehlers-Danlos/osteogenesis imperfecta syndrome],[17156],,,,, +GARD:18318,Active,Orphanet+OMIM,OMIM:609322,Subtype of disorder,[Clinical subtype],Rhabdoid tumor predisposition syndrome 1,"[Brain tumor, posterior fossa, of infancy, familial]","The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors ({12:Sevenet et al., 1999}).\n\nRhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors ({1:Beckwith and Palmer, 1978}). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) ({10:Parham et al., 1994}). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT).\n\n<Subhead> Genetic Heterogeneity of Rhabdoid Tumor Predisposition Syndrome\n\nSee also RTPS2 ({613325}), caused by germline mutation in the SMARCA4 gene ({603254}) on chromosome 19p13.",[609322],[231108],[Familial rhabdoid tumor],[17159],,,,, +GARD:18319,Active,Orphanet+OMIM,OMIM:613325,Subtype of disorder,[Clinical subtype],Rhabdoid tumor predisposition syndrome 2,,"Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by {1:Foulkes et al., 2014}).\n\nSee also RTPS1 ({609322}), which is caused by mutation in the SMARCB1 gene ({601607}) on chromosome 22q11.",[613325],[231108],[Familial rhabdoid tumor],[17159],,,,, +GARD:1832,Legacy,GARD,,,,,,,,,,,,Diabetes hypogonadism deafness mental retardation,TRUE,FALSE,Retired +GARD:18320,Active,Orphanet+OMIM,OMIM:105800,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 1",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {16:Krischek and Inoue, 2006}).\n\n<Subhead> Genetic Heterogeneity of Intracranial Berry Aneurysm\n\nIntracranial berry aneurysm-1 (ANIB1) has been mapped to chromosome 7q11.2.\n\nOther mapped loci for intracranial berry aneurysm include ANIB2 ({608542}) on chromosome 19q13, ANIB3 ({609122}) on 1p36.13-p34.3, ANIB4 ({610213}) on 5p15.2-14.3, ANIB5 ({300870}) on Xp22, ANIB6 ({611892}) on 9p21, ANIB7 ({612161}) on 11q24-q25, ANIB8 ({612162}) on 14q23, ANIB9 ({612586}) on 2q, ANIB10 ({612587}) on 8q, and ANIB11 ({614252}) on 8p22. ANIB12 ({618734}) is caused by mutation in the THSD1 gene ({616821}).",[105800],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18321,Active,Orphanet+OMIM,OMIM:300870,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 5",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[300870],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18322,Active,Orphanet+OMIM,OMIM:609122,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 3",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {3:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[609122],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18323,Active,Orphanet+OMIM,OMIM:610213,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 4",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[610213],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18324,Active,Orphanet+OMIM,OMIM:611892,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 6",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {4:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[611892],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18325,Active,Orphanet+OMIM,OMIM:612161,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 7",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 (105800).",[612161],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18326,Active,Orphanet+OMIM,OMIM:612162,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 8",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[612162],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18327,Active,Orphanet+OMIM,OMIM:612586,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 9",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {3:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 ({105800}).",[612586],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18328,Active,Orphanet+OMIM,OMIM:612587,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 10",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {2:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 ({105800}).",[612587],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18329,Active,Orphanet+OMIM,OMIM:614252,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 11",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {2:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 ({105800}).",[614252],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18330,Active,Orphanet+OMIM,OMIM:618734,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 12",,"Rupture of an intracranial aneurysm (IA), an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage (SAH), a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).",[618734],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18331,Active,Orphanet+OMIM,OMIM:203300,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 1,"[delta storage pool disease, Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells]","Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes ({19:Oh et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Hermansky-Pudlak Syndrome\n\nHPS2 ({608233}) is caused by mutation in the AP3B1 gene ({603401}) on chromosome 5q14. HPS3 ({614072}) is caused by mutation in the HSP3 gene ({606118}) on chromosome 3q24. HPS4 ({614073}) is caused by mutation in the HSP4 gene ({606682}) on chromosome 22q12. HPS5 ({614074}) is caused by mutation in the HPS5 gene ({607521}) on chromosome 11p14. HPS6 ({614075}) is caused by mutation in the HPS6 gene ({607522}) on chromosome 10q24. HPS7 ({614076}) is caused by mutation in the DTNBP1 gene ({607145}) on chromosome 6p22. HPS8 ({614077}) is caused by mutation in the BLOC1S3 gene ({609762}) on chromosome 19q13. HPS9 ({614171}) is caused by mutation in the PLDN gene ({604310}) on chromosome 15q21. HPS10 ({617050}) is caused by mutation in the AP3D1 gene ({607246}) on chromosome 19p13. HPS11 ({619172}) is caused by mutation in the BLOC1S5 gene ({607289}) on chromosome 6p24.",[203300],[231500],[Hermansky-Pudlak syndrome due to BLOC-3 deficiency],[17168],,,,, +GARD:18332,Active,Orphanet+OMIM,OMIM:614073,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 4,,"Hermansky-Pudlak syndrome-4 (HPS4) is characterized by oculocutaneous albinism in association with easy bruising or a bleeding tendency and absence of platelet dense bodies. Some patients also exhibit pulmonary fibrosis and/or granulomatous colitis ({1:Anderson et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300}).",[614073],[231500],[Hermansky-Pudlak syndrome due to BLOC-3 deficiency],[17168],,,,, +GARD:18333,Active,Orphanet+OMIM,OMIM:614072,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 3,,,[614072],[231512],[Hermansky-Pudlak syndrome due to BLOC-2 deficiency],[17169],,,,, +GARD:18334,Active,Orphanet+OMIM,OMIM:614074,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 5,,"Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients ({2:Ringeisen et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300}).",[614074],[231512],[Hermansky-Pudlak syndrome due to BLOC-2 deficiency],[17169],,,,, +GARD:18335,Active,Orphanet+OMIM,OMIM:614075,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 6,,,[614075],[231512],[Hermansky-Pudlak syndrome due to BLOC-2 deficiency],[17169],,,,, +GARD:18336,Active,Orphanet+OMIM,OMIM:614076,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 7,,,[614076],[231531],[Hermansky-Pudlak syndrome due to BLOC-1 deficiency],[17170],,,,, +GARD:18337,Active,Orphanet+OMIM,OMIM:614077,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 8,,,[614077],[231531],[Hermansky-Pudlak syndrome due to BLOC-1 deficiency],[17170],,,,, +GARD:18338,Active,Orphanet+OMIM,OMIM:614171,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 9,,,[614171],[231531],[Hermansky-Pudlak syndrome due to BLOC-1 deficiency],[17170],,,,, +GARD:18339,Active,Orphanet+OMIM,OMIM:619172,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 11,,"Hermansky-Pudlak syndrome-11 (HPS11) is characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis. Patients lack detectable platelet dense granules, and show mildly impaired activation-induced ATP release and platelet aggregation in vitro ({1:Pennamen et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300}).",[619172],[231531],[Hermansky-Pudlak syndrome due to BLOC-1 deficiency],[17170],,,,, +GARD:18340,Active,Orphanet+OMIM,OMIM:607748,Subtype of disorder,[Disease subtype],"Hypercholanemia, familial 1","[Bile acid, elevated serum]","Familial hypercholanemia-1 (FHCA1) is an autosomal recessive disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins. Vitamin D deficiency results in rickets, and vitamin K deficiency results in a coagulopathy ({2:Morton et al., 2000}; {3:Shneider et al., 1997}; summary by {1:Carlton et al., 2003}).\n\nSee also bile acid conjugation defect-1 (BACD1; {619232}), which can also show increased bile acid levels, although the bile acids in BACD1 are unconjugated.\n\n<Subhead> Genetic Heterogeneity of FHCA\n\nSee FHCA2 ({619256}), caused by mutation in the SLC10A1 gene ({182396}) on chromosome 14q24.",[607748],[238475],[Familial hypercholanemia],[17173],,,,, +GARD:18341,Active,Orphanet+OMIM,OMIM:619256,Subtype of disorder,[Disease subtype],"Hypercholanemia, familial, 2",[Ntcp deficiency],"Familial hypercholanemia-2 (FHCA2) is an autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy. Most patients are asymptomatic and have no liver dysfunction, although some neonates may have transient jaundice or transiently elevated liver enzymes. These abnormalities improve with age. The bile acid defect can result in impaired absorption of fat-soluble vitamins, including D and K, causing decreased bone mineral density or prolonged prothrobin time (PT) (summary by {1:Deng et al., 2016} and {3:Liu et al., 2017}).\n\nFor a discussion of genetic heterogeneity of FHCA, see FHCA1 ({607748}).",[619256],[238475],[Familial hypercholanemia],[17173],,,,, +GARD:18342,Active,Orphanet+OMIM,OMIM:612567,Subtype of disorder,[Disease subtype],"Inflammatory bowel disease 25, autosomal recessive","[Inflammatory bowel disease, early-onset, autosomal recessive]",,[612567],[238569],[Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome],[13016],,,,, +GARD:18343,Active,Orphanet+OMIM,OMIM:613148,Subtype of disorder,[Disease subtype],"Inflammatory bowel disease 28, autosomal recessive","[Inflammatory bowel disease, early-onset, autosomal recessive]",,[613148],[238569],[Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome],[13016],,,,, +GARD:18344,Active,Orphanet+OMIM,OMIM:609454,Subtype of disorder,[Clinical subtype],"Supranuclear palsy, progressive, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 ({601104}).",[609454],[240071],[Classic progressive supranuclear palsy syndrome],[17182],,,,, +GARD:18345,Active,Orphanet+OMIM,OMIM:610898,Subtype of disorder,[Clinical subtype],"Supranuclear palsy, progressive, 3",,"For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 ({601104}).",[610898],[240071],[Classic progressive supranuclear palsy syndrome],[17182],,,,, +GARD:18346,Active,Orphanet+OMIM,OMIM:612286,Subtype of disorder,[Disease subtype],"Nephrolithiasis/osteoporosis, hypophosphatemic, 1",,,[612286],[244305],[Dominant hypophosphatemia with nephrolithiasis or osteoporosis],[17186],,,,, +GARD:18347,Active,Orphanet+OMIM,OMIM:612287,Subtype of disorder,[Disease subtype],"Nephrolithiasis/osteoporosis, hypophosphatemic, 2",,,[612287],[244305],[Dominant hypophosphatemia with nephrolithiasis or osteoporosis],[17186],,,,, +GARD:18348,Active,Orphanet+OMIM,OMIM:615851,Subtype of disorder,[Disease subtype],"Pontocerebellar hypoplasia, type 2e",,"Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by {2:Feinstein et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A ({277470}).",[615851],[247198],[Progressive cerebello-cerebral atrophy],[17187],,,,, +GARD:18349,Active,Orphanet+OMIM,OMIM:239300,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 1,"[Mabry syndrome, glycosylphosphatidylinositol biosynthesis defect 2]","Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by {4:Krawitz et al., 2010}). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 ({610293}).\n\n<Subhead> Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation Syndrome\n\nSee also HPMRS2 ({614749}), caused by mutation in the PIGO gene ({614730}) on chromosome 9p13; HPMRS3 ({614207}), caused by mutation in the PGAP2 gene ({615187}) on chromosome 11p15; HPMRS4 ({615716}), caused by mutation in the PGAP3 gene ({611801}) on chromosome 17q12; HPMRS5 ({616025}), caused by mutation in the PIGW gene ({610275}) on chromosome 17q12; and HPMRS6 ({616809}), caused by mutation in the PIGY gene ({610662}) on chromosome 4q22.\n\n{3:Knaus et al. (2018)} provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. {3:Knaus et al. (2018)} concluded that a distinction between HPMRS and MCAHS (see, e.g., {614080}), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).",[239300],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18350,Active,Orphanet+OMIM,OMIM:614207,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 3,"[Mental retardation, autosomal recessive 17, glycosylphosphatidylinositol biosynthesis defect 8, mental retardation, autosomal recessive 21]","Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by {2:Hansen et al., 2013}). However, the severity of the disorder can also vary to include milder intellectual disability ({3:Krawitz et al., 2013}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of HPMRS, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[614207],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18351,Active,Orphanet+OMIM,OMIM:614749,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 2,[Glycosylphosphatidylinositol biosynthesis defect 6],"Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by {1:Krawitz et al., 2012}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of hyperphosphatasia with mental retardation syndrome, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[614749],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18352,Active,Orphanet+OMIM,OMIM:615716,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 4,[Glycosylphosphatidylinositol biosynthesis defect 10],"Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by {3:Howard et al., 2014}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of HPMRS, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[615716],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18353,Active,Orphanet+OMIM,OMIM:616025,Subtype of disorder,[Disease subtype],Glycosylphosphatidylinositol biosynthesis defect 11,[Hyperphosphatasia with mental retardation syndrome 5],"GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by {2:Hogrebe et al., 2016}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[616025],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18354,Active,Orphanet+OMIM,OMIM:616809,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 6,[Glycosylphosphatidylinositol biosynthesis defect 12],"Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by {1:Ilkovski et al., 2015}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of HPMRS, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[616809],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18355,Active,Orphanet+OMIM,OMIM:609820,Subtype of disorder,[Disease subtype],"Erythrocytosis, familial, 3",,,[609820],[247511],[Autosomal dominant secondary polycythemia],[17189],,,,, +GARD:18356,Active,Orphanet+OMIM,OMIM:611783,Subtype of disorder,[Disease subtype],"Erythrocytosis, familial, 4",,"Familial erythrocytosis-4 (ECYT4) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration as well as elevated serum erythropoietin (EPO; {133170}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 ({133100}).",[611783],[247511],[Autosomal dominant secondary polycythemia],[17189],,,,, +GARD:18357,Active,Orphanet+OMIM,OMIM:617626,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 5","[fibromatosis, gingival, hereditary, 5, Ggf5]","Gingival fibromatosis-5 is an autosomal dominant benign overgrowth disorder characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues. Affected individuals may have diastema, malposition of the teeth, and prolonged retention of primary teeth. Onset is in the first decade. Treatment by surgical resection is generally followed by regrowth of the gingival tissues (summary by {2:Pehlivan et al., 2009}).",[617626],[2024],[Hereditary gingival fibromatosis],[16582],,,,, +GARD:18358,Active,Orphanet+OMIM,OMIM:614134,Subtype of disorder,[Clinical subtype],"Stickler syndrome, type iv",,,[614134],[250984],[Autosomal recessive Stickler syndrome],[17203],,,,, +GARD:18359,Active,Orphanet+OMIM,OMIM:614284,Subtype of disorder,[Clinical subtype],"Stickler syndrome, type v",,,[614284],[250984],[Autosomal recessive Stickler syndrome],[17203],,,,, +GARD:18360,Active,Orphanet+OMIM,OMIM:615542,Subtype of disorder,[Malformation syndrome subtype],Testicular anomalies with or without congenital heart disease,,,[615542],[251510],"[46,XY partial gonadal dysgenesis]",[17211],,,,, +GARD:18361,Active,Orphanet+OMIM,OMIM:616067,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 9","[46,xy sex reversal, zfpm2-related]",,[616067],[251510],"[46,XY partial gonadal dysgenesis]",[17211],,,,, +GARD:18362,Active,Orphanet+OMIM,OMIM:619096,Subtype of disorder,[Disease subtype],Mismatch repair cancer syndrome 2,,"Mismatch repair cancer syndrome-2 (MMRCS2) is an autosomal recessive childhood cancer predisposition syndrome characterized by hematologic malignancy, brain tumors, and gastrointestinal tumors. Multiple cafe-au-lait spots reminiscent of neurofibromatosis type I (NF1; {162200}) may be present. Microsatellite instability may be detected in tumor samples ({2:Muller et al., 2006}).\n\nFor a discussion of genetic heterogeneity of mismatch repair cancer syndrome (MMRCS), see MMRCS1 ({276300}).",[619096],[252202],[Constitutional mismatch repair deficiency syndrome],[17217],,,,, +GARD:18363,Active,Orphanet+OMIM,OMIM:619097,Subtype of disorder,[Disease subtype],Mismatch repair cancer syndrome 3,,"Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; {162200}) may be present ({2:Hegde et al., 2005}, {4:Ostergaard et al., 2005}). Microsatellite instability may be detected in tumor samples ({2:Hegde et al., 2005}).\n\nFor a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 ({276300}).",[619097],[252202],[Constitutional mismatch repair deficiency syndrome],[17217],,,,, +GARD:18364,Active,Orphanet+OMIM,OMIM:619101,Subtype of disorder,[Disease subtype],Mismatch repair cancer syndrome 4,,"Mismatch repair cancer syndrome-4 (MMRCS4) is an autosomal recessive childhood cancer predisposition syndrome characterized by early-onset leukemia/lymphoma, brain tumors, colorectal/gastrointestinal cancers, and other rare malignancies, including rhabdomyosarcoma (summary by {11:Li et al., 2015}). Cafe-au-lait spots are usually present ({4:De Vos et al., 2006}).\n\nFor a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 ({276300}).",[619101],[252202],[Constitutional mismatch repair deficiency syndrome],[17217],,,,, +GARD:18365,Active,Orphanet+OMIM,OMIM:231090,Subtype of disorder,[Clinical subtype],"Hydatidiform mole, recurrent, 1","[Hydatidiform mole, hydatidiform mole, complete, gestational trophoblastic disease]","A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by {6:Fallahian et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Recurrent Hydatidiform Mole\n\nAnother form of recurrent complete hydatidiform mole (HYDM2; {614293}) is caused by mutation in the KHDC3L gene ({611687}) on chromosome 6q13. HYDM3 ({618431}) is caused by mutation in the MEI1 gene ({608797}) on chromosome 22q13. HYDM4 ({618432}) is caused by mutation in the C11ORF80 gene ({616109}) on chromosome 11q13.",[231090],[254688],[Complete hydatidiform mole],[17224],,,,, +GARD:18366,Active,Orphanet+OMIM,OMIM:614293,Subtype of disorder,[Clinical subtype],"Hydatidiform mole, recurrent, 2","[Hydatidiform mole, complete]","A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by {1:Fallahian et al., 2013}).\n\nFor a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 ({231090}).",[614293],[254688],[Complete hydatidiform mole],[17224],,,,, +GARD:18367,Active,Orphanet+OMIM,OMIM:618431,Subtype of disorder,[Clinical subtype],"Hydatidiform mole, recurrent, 3",,"Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes (summary by {1:Nguyen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 ({231090}).",[618431],[254688],[Complete hydatidiform mole],[17224],,,,, +GARD:18368,Active,Orphanet+OMIM,OMIM:618432,Subtype of disorder,[Clinical subtype],"Hydatidiform mole, recurrent, 4",,"Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes (summary by {1:Nguyen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 ({231090}).",[618432],[254688],[Complete hydatidiform mole],[17224],,,,, +GARD:18369,Active,Orphanet+OMIM,OMIM:609560,Subtype of disorder,[Disease subtype],Mitochondrial dna depletion syndrome 2 (myopathic type),"[Mitochondrial dna depletion myopathy, tk2-related]","Mitochondrial DNA depletion syndrome-2 is an autosomal recessive disorder characterized primarily by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later childhood onset of a slowly progressive myopathy ({10:Oskoui et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 ({603041}).",[609560],[254875],"[Mitochondrial DNA depletion syndrome, myopathic form]",[17228],,,,, +GARD:18370,Active,Orphanet+OMIM,OMIM:618972,Subtype of disorder,[Disease subtype],Mitochondrial dna depletion syndrome 19,,,[618972],[254875],"[Mitochondrial DNA depletion syndrome, myopathic form]",[17228],,,,, +GARD:18371,Active,Orphanet+OMIM,OMIM:618235,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 13",,,[618235],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18372,Active,Orphanet+OMIM,OMIM:618239,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 17",,,[618239],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18373,Active,Orphanet+OMIM,OMIM:618243,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 22",,,[618243],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18374,Active,Orphanet+OMIM,OMIM:618244,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 23",,"Mitochondrial complex I deficiency nuclear type 23 (MC1DN23) is an autosomal recessive nuclear-encoded mitochondrial disease with clinical presentations ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI findings may include basal ganglia abnormalities or optic atrophy (summary by {1:Magrinelli et al., 2022}).",[618244],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18375,Active,Orphanet+OMIM,OMIM:618248,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 27",,,[618248],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18376,Active,Orphanet+OMIM,OMIM:618249,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 28",,,[618249],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18377,Active,Orphanet+OMIM,OMIM:618257,Subtype of disorder,"[Etiological subtype, Disease subtype]","Deafness, autosomal recessive 112",,"DFNB112 is characterized by postlingual progressive sensorineural hearing impairment ({1:Girotto et al., 2013}).",[618257],"[255241, 90636]","[Autosomal recessive non-syndromic sensorineural deafness type DFNB, Leigh syndrome with leukodystrophy]","[17238, 18644]",,,,, +GARD:18378,Active,Orphanet+OMIM,OMIM:607426,Subtype of disorder,[Disease subtype],"Coenzyme q10 deficiency, primary, 1","[coenzyme q deficiency 1, ubiquinone deficiency 1, coq deficiency 1, Coq10 deficiency, primary, 1]","Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by {10:Quinzii and Hirano, 2011}). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain ({4:Duncan et al., 2009}).\n\nThe disorder has been associated with 4 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia ({9:Ogasahara et al., 1989}); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure ({14:Rotig et al., 2000}); a predominantly cerebellar form with ataxia and cerebellar atrophy ({6:Lamperti et al., 2003}); and Leigh syndrome with growth retardation ({17:van Maldergem et al., 2002}). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment.\n\n<Subhead> Genetic Heterogeneity of Primary Coenzyme Q10 Deficiency\n\nSee also COQ10D2 ({614651}), caused by mutation in the PDSS1 gene ({607429}) on chromosome 10p12; COQ10D3 ({614652}), caused by mutation in the PDSS2 gene ({610564}) on chromosome 6q21; COQ10D4 ({612016}), caused by mutation in the COQ8 gene (ADCK3; {606980}) on chromosome 1q42; COQ10D5 ({614654}), caused by mutation in the COQ9 gene ({612837}) on chromosome 16q21; COQ10D6 ({614650}), caused by mutation in the COQ6 gene ({614647}) on chromosome 14q24; COQ10D7 ({616276}), caused by mutation in the COQ4 gene ({612898}) on chromosome 9q34; COQ10D8 ({616733}), caused by mutation in the COQ7 gene ({601683}) on chromosome 16p13; and COQ10D9 ({619028}), caused by mutation in the COQ5 gene ({616359}) on chromosome 12q24.\n\nSecondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD; {231680}), caused by mutation in the ETFDH gene ({231675}) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1; {208920}), caused by mutation in the APTX gene ({606350}) on chromosome 9p13.",[607426],[255249],[Leigh syndrome with nephrotic syndrome],[17239],,,,, +GARD:18379,Active,Orphanet+OMIM,OMIM:614652,Subtype of disorder,[Disease subtype],"Coenzyme q10 deficiency, primary, 3",,,[614652],[255249],[Leigh syndrome with nephrotic syndrome],[17239],,,,, +GARD:18380,Active,Orphanet+OMIM,OMIM:182170,Subtype of disorder,[Disease subtype],"Anemia, sideroblastic, 4",,"Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if present, may be microcytic or macrocytic. Sometimes a dimorphic picture is observed in which 2 populations of erythrocytes can be detected in peripheral blood smears. The presence of ringed sideroblasts (erythroblasts containing pathologic mitochondrial iron deposits) in bone marrow is pathognomonic for sideroblastic anemia ({3:van Waveren Hogervorst et al., 1987}; {2:Schmitz-Abe et al., 2015}).\n\nFor a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 ({300751}).",[182170],[260305],[Autosomal recessive sideroblastic anemia],[17240],,,,, +GARD:18381,Active,Orphanet+OMIM,OMIM:205950,Subtype of disorder,[Disease subtype],"Anemia, sideroblastic, 2, pyridoxine-refractory",,,[205950],[260305],[Autosomal recessive sideroblastic anemia],[17240],,,,, +GARD:18382,Active,Orphanet+OMIM,OMIM:617768,Subtype of disorder,[Etiological subtype],Kleefstra syndrome 2,,"Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by {3:Koemans et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 ({610253}).",[617768],[261652],[Kleefstra syndrome due to a point mutation],[17253],,,,, +GARD:18383,Active,Orphanet+OMIM,OMIM:619082,Subtype of disorder,[Disease subtype],"Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1",,"Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1) is characterized by poor visual acuity in early childhood. Congenital cataract and microcornea are followed by rod-cone dystrophy, with later development of posterior staphyloma ({1:Cai et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma\n\nMRCS2 (see {193220}) is caused by mutation in the BEST1 gene ({607854}) on chromosome 11q12; 1 such family has been reported.",[619082],[263347],[MRCS syndrome],[17255],,,,, +GARD:18384,Active,Orphanet+OMIM,OMIM:614212,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced, susceptibility to, 4",,"Acute encephalopathy is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder (summary by {1:Chen et al., 2005}; {4:Shinohara et al., 2011}).\n\nFor a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see {610551}.",[614212],[263524],[Acute necrotizing encephalopathy of childhood],[17257],,,,, +GARD:18385,Active,Orphanet+OMIM,OMIM:607174,Subtype of disorder,[Disease subtype],"Meningioma, familial, susceptibility to",,"Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare ({58:Zang, 2001}).\n\nFamilial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis ({162091}), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2; {613028}) associated with a mutation in the PTEN gene ({601728}) developed a meningioma ({51:Staal et al., 2002}).",[607174],[263662],[Familial multiple meningioma],[17260],,,,, +GARD:18386,Active,Orphanet+OMIM,OMIM:306000,Subtype of disorder,[Disease subtype],Glycogen storage disease ixa1,"[gsd viii, formerly, glycogen storage disease viii, formerly, Liver glycogenosis, x-linked, type i]","Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB; {172490}), gamma (PHKG2; {172471}), and delta (CALM1; {114180}). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B ({261750}), and GSD9C ({613027}), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive.\n\nGSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes ({22:Keating et al., 1985}; {10:Hendrickx et al., 1994}; {1:Beauchamp et al., 2007}).\n\nSee also X-linked muscle PHK deficiency (GSD9D; {300559}), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1; {311870}).",[306000],[264580],[Glycogen storage disease due to liver phosphorylase kinase deficiency],[17261],,,,, +GARD:18387,Active,Orphanet+OMIM,OMIM:613027,Subtype of disorder,[Disease subtype],Glycogen storage disease ixc,[Gsd ixc],"Glycogen storage disease IXc (GSD9C) is characterized by onset in childhood of hepatomegaly, hypotonia, growth retardation in childhood, and liver dysfunction. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis ({4:Burwinkel et al., 1998}).\n\nFor a general description and a discussion of genetic heterogeneity of GSD IX, see GSD9A ({306000}).",[613027],[264580],[Glycogen storage disease due to liver phosphorylase kinase deficiency],[17261],,,,, +GARD:18388,Active,Orphanet+OMIM,OMIM:615135,Subtype of disorder,[Clinical subtype],"Maple syrup urine disease, mild variant",,"The mild variant of MSUD is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes; however, plasma levels of BCAA may remain elevated (summary by {2:Oyarzabal et al., 2013}).\n\nFor a general description and a discussion of genetic heterogeneity of maple syrup urine disease, see {248600}.",[615135],[268162],[Intermediate maple syrup urine disease],[17264],,,,, +GARD:18389,Active,Orphanet+OMIM,OMIM:189800,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 1,"[Preg1, pee, toxemia of pregnancy]","Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by {40:Payne et al., 2011}).\n\nPreeclampsia is otherwise known as gestational proteinuric hypertension ({16:Davey and MacGillivray, 1988}). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition ({19:Fisher et al., 1981}). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) ({9:Brown et al., 2000}).\n\n<Subhead> Genetic Heterogeneity of Preeclampsia/Eclampsia\n\nSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 ({609402}) on chromosome 2p25, and PEE3 ({609403}) on chromosome 9p13. PEE4 ({609404}) is caused by mutation in the STOX1 gene ({609397}) on chromosome 10q22. PEE5 ({614595}) is caused by mutation in the CORIN gene ({605236}) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene ({132810}) on chromosome 1q.",[189800],[275555],[Preeclampsia],[12924],,,,, +GARD:1839,Active,Orphanet,ORPHA:99886,Disorder,[Disease],Transient neonatal diabetes mellitus,[TNDM],"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.","[610374, 610582, 601410]",,,,,Transient neonatal diabetes mellitus,TRUE,FALSE,Active +GARD:18390,Active,Orphanet+OMIM,OMIM:609402,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 2,,"For a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia, see PEE1 ({189800}).",[609402],[275555],[Preeclampsia],[12924],,,,, +GARD:18391,Active,Orphanet+OMIM,OMIM:609403,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 3,,"For a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia, see PEE1 ({189800}).",[609403],[275555],[Preeclampsia],[12924],,,,, +GARD:18392,Active,Orphanet+OMIM,OMIM:609404,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 4,,,[609404],[275555],[Preeclampsia],[12924],,,,, +GARD:18393,Active,Orphanet+OMIM,OMIM:614595,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 5,,"Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by {2:Payne et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia/eclampsia, see PEE1 ({189800}).",[614595],[275555],[Preeclampsia],[12924],,,,, +GARD:18394,Active,Orphanet+OMIM,OMIM:615342,Subtype of disorder,[Etiological subtype],"Pulmonary hypertension, primary, 2",,,[615342],[275777],[Heritable pulmonary arterial hypertension],[11914],,,,, +GARD:18395,Active,Orphanet+OMIM,OMIM:619132,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 8,,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-8 (FTDALS8) is an autosomal dominant neurodegenerative disorder characterized by adult-onset dementia manifest as memory impairment, executive dysfunction, and behavioral or personality changes. Some patients may develop ALS or parkinsonism. Neuropathologic studies show frontotemporal lobar degeneration (FTLD) with tau (MAPT; {157140})- and TDP43 ({605078})-immunoreactive inclusions (summary by {1:Dobson-Stone et al., 2020}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[619132],[275864],[Behavioral variant of frontotemporal dementia],[7392],,,,, +GARD:18396,Active,Orphanet+OMIM,OMIM:105550,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 1,"[amyotrophic lateral sclerosis and/or frontotemporal dementia, frontotemporal dementia and/or motor neuron disease, Frontotemporal dementia and/or amyotrophic lateral sclerosis]","Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) is an autosomal dominant neurodegenerative disorder characterized by adult onset of one or both of these features in an affected individual, with significant intrafamilial variation. The disorder is genetically and pathologically heterogeneous (summary by {54:Vance et al., 2006}). Patients with C9ORF72 repeat expansions tend to show a lower age of onset, shorter survival, bulbar symptom onset, increased incidence of neurodegenerative disease in relatives, and a propensity toward psychosis or hallucinations compared to patients with other forms of ALS and/or FTD (summary by {17:Harms et al., 2013}). Patients with C9ORF72 repeat expansions also show psychiatric disturbances that may predate the onset of dementia ({31:Meisler et al., 2013}; {15:Gomez-Tortosa et al., 2013}).\n\n{41:Ranganathan et al. (2020)} provided a detailed review of the genes involved in different forms of FTDALS, noting that common disease pathways involve disturbances in RNA processing, autophagy, the ubiquitin proteasome system, the unfolded protein response, and intracellular trafficking. The current understanding of ALS and FTD is that some forms of these disorders represent a spectrum of disease with converging mechanisms of neurodegeneration.\n\nFor a general phenotypic description of frontotemporal dementia, also known as frontotemporal lobar degeneration (FTLD), see {600274}. For a general discussion of motor neuron disease (MND), see amyotrophic lateral sclerosis-1 (ALS1; {105400}).\n\n<Subhead> Genetic Heterogeneity of Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis\n\nSee also FTDALS2 ({615911}), caused by mutation in the CHCHD10 gene ({615903}) on chromosome 22q11; FTDALS3 ({616437}), caused by mutation in the SQSTM1 gene ({601530}) on chromosome 5q35; FTDALS4 ({616439}), caused by mutation in the TBK1 gene ({604834}) on chromosome 12q14; FTDALS5 ({619141}), caused by mutation in the CCNF gene ({600227}) on chromosome 16p13; FTDALS6 ({613954}), caused by mutation in the VCP gene ({601023}) on chromosome 9p13; FTDALS7 ({600795}), caused by mutation in the CHMP2B gene ({609512}) on chromosome 3p11; and FTDALS8 ({619132}), caused by mutation in the CYLD gene ({605018}) on chromosome 16q12.",[105550],[275872],[Frontotemporal dementia with motor neuron disease],[17273],,,,, +GARD:18397,Active,Orphanet+OMIM,OMIM:615911,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,,,[615911],[275872],[Frontotemporal dementia with motor neuron disease],[17273],,,,, +GARD:18398,Active,Orphanet+OMIM,OMIM:616439,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 4,,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. The phenotype is highly variable (summary by {2:Freischmidt et al., 2015}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[616439],[275872],[Frontotemporal dementia with motor neuron disease],[17273],,,,, +GARD:18399,Active,Orphanet+OMIM,OMIM:606766,Subtype of disorder,[Disease subtype],Spermatogenic failure 3,,"In spermatogenic failure-3 (SPGF3), primary infertility is associated with nonobstructive asthenozoospermia ({1:Dirami et al., 2013}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[606766],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:184,Active,Orphanet,ORPHA:662,Disorder,[Disease],Yellow nail syndrome,"[Lymphedema with yellow nails, YNS]","A rare, syndromic nail anomaly disease characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.",[153300],,,,,Yellow nail syndrome,TRUE,FALSE,Active +GARD:1840,Legacy,GARD,,,,,,,,,,,,Diabetes persistent mullerian ducts,TRUE,FALSE,Active +GARD:18400,Active,Orphanet+OMIM,OMIM:612997,Subtype of disorder,[Disease subtype],Spermatogenic failure 7,"[Male infertility, nonsyndromic, autosomal recessive]",,[612997],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18401,Active,Orphanet+OMIM,OMIM:614822,Subtype of disorder,[Disease subtype],Spermatogenic failure 10,[Spermatogenic failure with defective sperm annulus],"Spermatogenic failure-10 is associated with a defective annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The firm attachment of the annulus to the flagellar membrane suggests that it may supply mechanical support and prevent displacement of the caudal mitochondrial helix (summary by {1:Kuo et al., 2012}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[614822],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18402,Active,Orphanet+OMIM,OMIM:617576,Subtype of disorder,[Disease subtype],Spermatogenic failure 18,,"Spermatogenic failure-18 is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella ({2:Ben Khelifa et al., 2014}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617576],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18403,Active,Orphanet+OMIM,OMIM:617592,Subtype of disorder,[Disease subtype],Spermatogenic failure 19,,"Spermatogenic failure-19 is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella ({3:Tang et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617592],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18404,Active,Orphanet+OMIM,OMIM:617593,Subtype of disorder,[Disease subtype],Spermatogenic failure 20,,"Spermatogenic failure-20 is characterized by multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella ({3:Tang et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617593],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18405,Active,Orphanet+OMIM,OMIM:617965,Subtype of disorder,[Disease subtype],Spermatogenic failure 27,,"Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization ({1:Lores et al., 2018}).\n\nFor a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617965],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18406,Active,Orphanet+OMIM,OMIM:618152,Subtype of disorder,[Disease subtype],Spermatogenic failure 33,,"Spermatogenic failure-33 (SPGF33) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Short and irregular-caliber flagella are primarily observed, as well as absent and coiled flagella, and abnormalities of the acrosome, head, and base are also present ({2:Kherraf et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618152],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18407,Active,Orphanet+OMIM,OMIM:618153,Subtype of disorder,[Disease subtype],Spermatogenic failure 34,,"Spermatogenic failure-34 (SPGF34) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Irregular-caliber, short, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of the axoneme are also present ({1:Martinez et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618153],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18408,Active,Orphanet+OMIM,OMIM:618429,Subtype of disorder,[Disease subtype],Spermatogenic failure 37,,"Spermatogenic failure-37 (SPGF37) is characterized by primary male infertility with asthenoteratozoospermia. Spermatozoa exhibit severely reduced motility due to multiple morphologic abnormalities of the flagella (MMAF), primarily consisting of short or absent flagella. Neck defects at the head-tail junction are frequently seen ({1:Liu et al., 2019}).\n\nFor a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618429],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18409,Active,Orphanet+OMIM,OMIM:618433,Subtype of disorder,[Disease subtype],Spermatogenic failure 38,,"Spermatogenic failure-38 (SPGF38) is characterized by primary infertility and asthenoteratozoospermia due to multiple morphologic abnormalities of the flagella (MMAF). Spermatozoa show total sperm motility below 10% and exhibit morphologic anomalies including short, absent, coiled, bent, or irregular-caliber flagella ({1:Coutton et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618433],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18410,Active,Orphanet+OMIM,OMIM:618643,Subtype of disorder,[Disease subtype],Spermatogenic failure 39,,"Spermatogenic failure-39 (SPGF39) is characterized by infertility due to asthenozoospermia. Patient spermatozoa exhibit multiple morphologic anomalies of the sperm flagellum (MMAF), including short, absent, irregularly shaped, and coiled flagella; abnormalities of the sperm head and midpiece have also been observed. Ultrastructural analysis shows a lack of the outer dynein arms (ODAs) in sperm cells ({2:Whitfield et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618643],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18411,Active,Orphanet+OMIM,OMIM:618664,Subtype of disorder,[Disease subtype],Spermatogenic failure 40,,"Spermatogenic failure-40 (SPGF40) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Patient spermatozoa may also show morphologic defects of the sperm head, with acrosomal hypoplasia or aplasia ({4:Wang et al., 2019}; {2:Li et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618664],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18412,Active,Orphanet+OMIM,OMIM:618670,Subtype of disorder,[Disease subtype],Spermatogenic failure 41,,"Spermatogenic failure-41 (SPGF41) is characterized by infertility due to multiple morphologic abnormalities of the flagella (MMAF). Patient semen analysis has also shown oligozoospermia, and the flagellar abnormalities include short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities ({1:Beurois et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618670],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18413,Active,Orphanet+OMIM,OMIM:618745,Subtype of disorder,[Disease subtype],Spermatogenic failure 42,,"Spermatogenic failure-42 (SPGF42) is characterized by infertility and spermatozoa with almost no progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece ({3:Lores et al., 2019}; {2:Liu et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618745],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18414,Active,Orphanet+OMIM,OMIM:618751,Subtype of disorder,[Disease subtype],Spermatogenic failure 43,,"Spermatogenic failure-43 (SPGF43) is characterized by infertility and spermatozoa lacking progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Most flagella lack the central pair (9+0 configuration) on ultrastructural analysis ({3:Liu et al., 2019}; {4:Sha et al., 2019}; {2:Liu et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618751],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18415,Active,Orphanet+OMIM,OMIM:600081,Subtype of disorder,[Disease subtype],"Vitamin d hydroxylation-deficient rickets, type 1b","[Vitamin d-dependent rickets, type 1b, 25-hydroxyvitamin d3 deficiency, selective, pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency]","Vitamin D hydroxylation-deficient rickets type 1B (VDDR1B) is caused by a defect in vitamin D 25-hydroxylation ({5:Molin et al., 2017}). The major function of vitamin D is to maintain calcium and phosphate levels in the normal range to support metabolic functions, neuromuscular transmission, and bone mineralization. Disorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia (summary by {4:Liberman and Marx, 2001}).",[600081],[289157],[Hypocalcemic vitamin D-dependent rickets],[17319],,,,, +GARD:18416,Active,Orphanet+OMIM,OMIM:241520,Subtype of disorder,[Disease subtype],"Hypophosphatemic rickets, autosomal recessive, 1","[hypophosphatemia, autosomal recessive, Arhr]",,[241520],[289176],[Autosomal recessive hypophosphatemic rickets],[17320],,,,, +GARD:18417,Active,Orphanet+OMIM,OMIM:613312,Subtype of disorder,[Disease subtype],"Hypophosphatemic rickets, autosomal recessive, 2",,,[613312],[289176],[Autosomal recessive hypophosphatemic rickets],[17320],,,,, +GARD:18418,Active,Orphanet+OMIM,OMIM:193000,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 1,,"Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by {16:Lu et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Vesicoureteral Reflux\n\nA locus designated VUR1 maps to chromosome 1p13. VUR2 ({610878}) is caused by mutation in the ROBO2 gene ({602431}) on chromosome 3p12; VUR3 ({613674}) is caused by mutation in the SOX17 gene ({610928}) on chromosome 8q11; VUR4 ({614317}) maps to chromosome 5; VUR5 ({614318}) maps to chromosome 13; VUR6 ({614319}) maps to chromosome 18; VUR7 ({615390}) maps to chromosome 12; and VUR8 ({615963}) is caused by mutation in the TNXB gene ({600985}) on chromosome 6p21. A possible X-linked form has been reported (VURX; {314550}).",[193000],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18419,Active,Orphanet+OMIM,OMIM:610878,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 2,,,[610878],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18420,Active,Orphanet+OMIM,OMIM:613674,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 3,,,[613674],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18421,Active,Orphanet+OMIM,OMIM:614317,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 4,,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 ({193000}).",[614317],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18422,Active,Orphanet+OMIM,OMIM:614318,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 5,,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 ({193000}).",[614318],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18423,Active,Orphanet+OMIM,OMIM:614319,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 6,,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 ({193000}).",[614319],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18424,Active,Orphanet+OMIM,OMIM:615390,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 7,,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux (VUR), see {193000}.",[615390],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18425,Active,Orphanet+OMIM,OMIM:615963,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 8,,,[615963],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18426,Active,Orphanet+OMIM,OMIM:607936,Subtype of disorder,[Disease subtype],Peeling skin syndrome 4,"[ichthyosis, exfoliative, autosomal recessive, Ichthyosis bullosa of siemens-like]",,[607936],[289586],[Exfoliative ichthyosis],[17329],,,,, +GARD:18427,Active,Orphanet+OMIM,OMIM:617115,Subtype of disorder,[Disease subtype],Peeling skin syndrome 5,,"Peeling skin syndrome-5 (PSS5) is characterized by superficial peeling of the dorsal and palmar skin of the hands and feet; the skin of the forearms and legs may also be involved. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques ({1:Pigors et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 ({270300}).",[617115],[289586],[Exfoliative ichthyosis],[17329],,,,, +GARD:18428,Active,Orphanet+OMIM,OMIM:265050,Subtype of disorder,[Malformation syndrome subtype],3mc syndrome 2,"[Ptosis of eyelids with diastasis recti and hip dysplasia, oculo-skeletal-abdominal syndrome, osa syndrome, carnevale syndrome, formerly]","The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by {6:Rooryck et al., 2011}).\n\nFor a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 ({257920}).",[265050],[293843],[3MC syndrome],[1118],,,,, +GARD:18429,Active,Orphanet+OMIM,OMIM:614328,Subtype of disorder,[Disease subtype],"Inflammatory skin and bowel disease, neonatal, 1",,,[614328],[294023],[Neonatal inflammatory skin and bowel disease],[17355],,,,, +GARD:1843,Legacy,GARD,,,,,,,,,,,,Diaphragmatic agenesis radial aplasia omphalocele,TRUE,FALSE,Active +GARD:18430,Active,Orphanet+OMIM,OMIM:616069,Subtype of disorder,[Disease subtype],"Inflammatory skin and bowel disease, neonatal, 2",,,[616069],[294023],[Neonatal inflammatory skin and bowel disease],[17355],,,,, +GARD:18431,Active,Orphanet+OMIM,OMIM:208540,Subtype of disorder,[Malformation syndrome subtype],Renal-hepatic-pancreatic dysplasia 1,[Rhpd],,[208540],[294415],[Renal-hepatic-pancreatic dysplasia],[17356],,,,, +GARD:18432,Active,Orphanet+OMIM,OMIM:615415,Subtype of disorder,[Malformation syndrome subtype],Renal-hepatic-pancreatic dysplasia 2,,"RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by {4:Grampa et al., 2016}).\n\nFor a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 ({208540}).",[615415],[294415],[Renal-hepatic-pancreatic dysplasia],[17356],,,,, +GARD:18433,Active,Orphanet+OMIM,OMIM:300942,Subtype of disorder,[Disease subtype],Chromosome xq26.3 duplication syndrome,,"X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1; {139250}) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds ({1:Beckers et al., 2015}).",[300942],[300373],[X-linked acrogigantism],[17370],,,,, +GARD:18434,Active,Orphanet+OMIM,OMIM:143880,Subtype of disorder,[Disease subtype],"Hypercalcemia, infantile, 1","[Hypercalcemia, idiopathic, of infancy]","Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by {8:Schlingmann et al., 2011}).\n\n<Subhead> Genetic Heterogeneity\n\nInfantile hypercalcemia-2 (HCINF2; {616963}) is caused by mutation in the SLC34A1 gene ({182309}) on chromosome 5q35.",[143880],[300547],[Autosomal recessive infantile hypercalcemia],[17374],,,,, +GARD:18435,Active,Orphanet+OMIM,OMIM:616963,Subtype of disorder,[Disease subtype],"Hypercalcemia, infantile, 2",,"Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by {2:Schlingmann et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 ({143880}).",[616963],[300547],[Autosomal recessive infantile hypercalcemia],[17374],,,,, +GARD:18436,Active,Orphanet+OMIM,OMIM:604185,Subtype of disorder,[Morphological anomaly subtype],"Facial paresis, hereditary congenital, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis (HCFP), see {601471}.",[604185],[306530],[Congenital hereditary facial paralysis-variable hearing loss syndrome],[17379],,,,, +GARD:18437,Active,Orphanet+OMIM,OMIM:614744,Subtype of disorder,[Morphological anomaly subtype],"Facial paresis, hereditary congenital, 3",,"HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by {4:Vogel et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.",[614744],[306530],[Congenital hereditary facial paralysis-variable hearing loss syndrome],[17379],,,,, +GARD:18438,Active,Orphanet+OMIM,OMIM:614231,Subtype of disorder,[Disease subtype],"Microcephaly, epilepsy, and diabetes syndrome 1",[Meds],"Microcephaly, epilepsy, and diabetes syndrome-1 (MEDS1) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes (summary by {3:Poulton et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Microcephaly, Epilepsy, and Diabetes Syndrome\n\nMEDS2 ({619278}) is caused by mutation in the YIPF5 gene ({611483}) on chromosome 5q31.",[614231],[306558],[Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome],[17381],,,,, +GARD:18439,Active,Orphanet+OMIM,OMIM:619278,Subtype of disorder,[Disease subtype],"Microcephaly, epilepsy, and diabetes syndrome 2",,"MEDS2 is characterized by severe microcephaly and neonatal/early-onset epilepsy and diabetes ({1:De Franco et al., 2020}).\n\nFor a discussion of genetic heterogeneity of microcephaly, epilepsy, and diabetes syndrome, see MEDS1 ({614231}).",[619278],[306558],[Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome],[17381],,,,, +GARD:18440,Active,Orphanet+OMIM,OMIM:615551,Subtype of disorder,[Disease subtype],"Episodic pain syndrome, familial, 2",,"Familial episodic pain syndrome-2 is an autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities (summary by {1:Faber et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial episodic pain syndrome, see {615040}.",[615551],[306577],[Sodium channelopathy-related small fiber neuropathy],[17382],,,,, +GARD:18441,Active,Orphanet+OMIM,OMIM:612199,Subtype of disorder,[Disease subtype],Cerebroretinal microangiopathy with calcifications and cysts 1,"[Crmcc, coats plus syndrome]","Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia (summary by {1:Anderson et al., 2012} and {8:Polvi et al., 2012}).\n\nLeukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome ({614561}), has similar central nervous system features as CRMCC in the absence of extraneurologic or systemic manifestations. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic ({1:Anderson et al., 2012}; {8:Polvi et al., 2012}).\n\nSome features of CRMCC resemble those observed in dyskeratosis congenita (see, e.g., {127550}), which is a clinically and genetically heterogeneous telomere-related genetic disorder.\n\n<Subhead> Genetic Heterogeneity of Cerebroretinal Microangiopathy With Calcifications And Cysts\n\nSee also CRMCC2 ({617341}), caused by mutation in the STN1 gene ({613128}) on chromosome 10q24.",[612199],[313838],[Coats plus syndrome],[17412],,,,, +GARD:18442,Active,Orphanet+OMIM,OMIM:617341,Subtype of disorder,[Disease subtype],Cerebroretinal microangiopathy with calcifications and cysts 2,,"CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by {1:Simon et al., 2016}).\n\nFor a discussion of genetic heterogeneity of CRMCC, see CRMCC1 ({612199}).",[617341],[313838],[Coats plus syndrome],[17412],,,,, +GARD:18443,Active,Orphanet+OMIM,OMIM:614881,Subtype of disorder,[Disease subtype],"Spinal muscular atrophy, distal, autosomal recessive, 5",,"DSMA5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired (summary by {1:Blumen et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal SMA, see HMN1 ({182960}).",[614881],[314485],[Young adult-onset distal hereditary motor neuropathy],[17421],,,,, +GARD:18444,Active,Orphanet+OMIM,OMIM:619216,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary motor, with myopathic features",,"Hereditary motor neuropathy with myopathic features (HMNMYO) is an autosomal recessive disorder with both myopathic and neurogenic features. Affected individuals usually present in the first decade with lower leg weakness resulting in difficulty climbing stairs and problems standing on the heels. Some patients have later onset well into the adult years. Most patients have foot deformities, and some may have leg muscle atrophy. The disorder is slowly progressive and often involves the upper limbs. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. Sensory abnormalities are not typically present, and patients remain ambulatory. The phenotype shows some phenotypic overlap with distal hereditary motor neuropathy (see, e.g., {182960}), but is distinguished by the presence of myopathic features (summary by {1:Deschauer et al., 2021} and {2:Pagnamenta et al., 2021}).",[619216],[314485],[Young adult-onset distal hereditary motor neuropathy],[17421],,,,, +GARD:18445,Active,Orphanet+OMIM,OMIM:300854,Subtype of disorder,[Disease subtype],"Renal cell carcinoma, xp11-associated",,"Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations with breakpoints involving the TFE3 gene within tumor cells. The result is a TFE3 transcription factor gene fusion with 1 of multiple reported genes including ASPRCR1 ({606236}) on chromosome 17q25 and PRCC ({179755}) on 1q21, and more rarely, NONO ({300084}) on Xq13, SFPQ ({605199}) on 1p34, CLTC ({118955}) on 17q23, and unknown genes on chromosomes 3 and 10. Xp11 translocations are often found in pediatric tumors and less commonly in adults. However, adult cases may outnumber pediatric cases since renal cell carcinoma is more common in the adult population. Prior chemotherapy is a known risk factor for Xp11 translocations. Histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed (review by {6:Ross and Argani, 2010}).\n\nFor a discussion of genetic heterogeneity of renal cell carcinoma, see RCC ({144700}).",[300854],[319308],[MiT family translocation renal cell carcinoma],[17446],,,,, +GARD:18446,Active,Orphanet+OMIM,OMIM:617591,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 3,,"Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by {1:Brehm et al., 2015}).\n\nFor a discussion of genetic heterogeneity of PRAAS, see PRAAS1 ({256040}).",[617591],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,,,, +GARD:18447,Active,Orphanet+OMIM,OMIM:618048,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 2,,"Proteasome-associated autoinflammatory syndrome-2 (PRAAS2) is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by {4:Poli et al., 2018}).\n\nFor a discussion of genetic heterogeneity of PRAAS, see PRAAS1 ({256040}).",[618048],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,,,, +GARD:18448,Active,Orphanet+OMIM,OMIM:619175,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 5,,,[619175],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,,,, +GARD:18449,Active,Orphanet+OMIM,OMIM:619183,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 4,,"Proteasome-associated autoinflammatory syndrome-4 (PRAAS4) is an autosomal recessive immunologic disorder characterized by onset of panniculitis and erythematous skin lesions in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, fever, generalized lipodystrophy, myositis, and joint contractures, as well as delayed motor and speech development. Autoimmune features, such as hemolytic anemia, may also occur. Laboratory studies show elevation of acute phase reactants and abnormal activation of the type I interferon response. Treatment with the JAK (see {147795}) inhibitor ruxolitinib may result in clinical improvement (summary by {1:de Jesus et al., 2019}).\n\nFor a discussion of genetic heterogeneity of PRAAS, see PRAAS1 ({256040}).",[619183],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,,,, +GARD:18450,Active,Orphanet+OMIM,OMIM:616479,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2","[Progressive external ophthalmoplegia, autosomal recessive 2]","Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by {1:Reyes et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 ({258450}).",[616479],[329336],[Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy],[17503],,,,, +GARD:18451,Active,Orphanet+OMIM,OMIM:610542,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 12","[Myasthenic syndrome, congenital, with tubular aggregates 1]","Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by {9:Senderek et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[610542],[353327],[Congenital myasthenic syndromes with glycosylation defect],[17539],,,,, +GARD:18452,Active,Orphanet+OMIM,OMIM:614750,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 13","[Myasthenic syndrome, congenital, with tubular aggregates 2]","Congenital myasthenic syndrome-13 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by {1:Belaya et al., 2012}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[614750],[353327],[Congenital myasthenic syndromes with glycosylation defect],[17539],,,,, +GARD:18453,Active,Orphanet+OMIM,OMIM:616227,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 15","[Myasthenic syndrome, congenital, without tubular aggregates]","Congenital myasthenic syndrome-15 is one of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness (summary by {1:Cossins et al., 2013}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616227],[353327],[Congenital myasthenic syndromes with glycosylation defect],[17539],,,,, +GARD:18454,Active,Orphanet+OMIM,OMIM:616228,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 14","[Myasthenic syndrome, congenital, with tubular aggregates 3]","Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by {1:Cossins et al., 2013}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616228],[353327],[Congenital myasthenic syndromes with glycosylation defect],[17539],,,,, +GARD:18455,Active,Orphanet+OMIM,OMIM:613151,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3","[Muscular dystrophy, congenital, pomgnt1-related]","MDDGB3 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and mild brain abnormalities ({1:Clement et al., 2008}). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({2:Mercuri et al., 2009}).\n\nFor a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 ({613155}).",[613151],[370959],[Congenital muscular dystrophy with cerebellar involvement],[17605],,,,, +GARD:18456,Active,Orphanet+OMIM,OMIM:613152,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4","[Muscular dystrophy, congenital, fktn-related]","MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies.' In contrast to most dystroglycanopathies, impaired intellectual development is not a feature of MDDGB4 ({1:Godfrey et al., 2007}).\n\nFor a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 ({613155}).",[613152],[370980],[Congenital muscular dystrophy without intellectual disability],[17607],,,,, +GARD:18457,Active,Orphanet+OMIM,OMIM:615419,Subtype of disorder,[Disease subtype],"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1",[Ihprf],"Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by {1:Al-Sayed et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies\n\nSee also IHPRF2 ({616801}), caused by mutation in the UNC80 gene ({612636}) on chromosome 2q34; and IHPRF3 ({616900}), caused by mutation in the TBCK gene ({616899}) on chromosome 4q24.",[615419],[371364],[Hypotonia-speech impairment-severe cognitive delay syndrome],[17609],,,,, +GARD:18458,Active,Orphanet+OMIM,OMIM:616801,Subtype of disorder,[Disease subtype],"Hypotonia, infantile, with psychomotor retardation and characteristic facies 2",,"Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by {2:Shamseldin et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 ({615419}).",[616801],[371364],[Hypotonia-speech impairment-severe cognitive delay syndrome],[17609],,,,, +GARD:18459,Active,Orphanet+OMIM,OMIM:616033,Subtype of disorder,[Disease subtype],"Microcephaly, short stature, and impaired glucose metabolism 1",[Mssgm],,[616033],[391408],[Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome],[17620],,,,, +GARD:1846,Legacy,GARD,,,,,,,,,,,,Diaphragmatic hernia exomphalos corpus callosum agenesis,TRUE,FALSE,Active +GARD:18460,Active,Orphanet+OMIM,OMIM:616817,Subtype of disorder,[Disease subtype],"Microcephaly, short stature, and impaired glucose metabolism 2",,,[616817],[391408],[Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome],[17620],,,,, +GARD:18461,Active,Orphanet+OMIM,OMIM:615528,Subtype of disorder,[Disease subtype],"Parkinson disease 19a, juvenile-onset","[Park19, formerly]","Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by {1:Edvardson et al., 2012} and {3:Koroglu et al., 2013}).\n\nParkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy ({4:Olgiati et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD ({168600}).",[615528],[391411],[Atypical juvenile parkinsonism],[17621],,,,, +GARD:18462,Active,Orphanet+OMIM,OMIM:615530,Subtype of disorder,[Disease subtype],"Parkinson disease 20, early-onset",,"Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by {2:Krebs et al., 2013} and {3:Quadri et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD ({168600}).",[615530],[391411],[Atypical juvenile parkinsonism],[17621],,,,, +GARD:18463,Active,Orphanet+OMIM,OMIM:616489,Subtype of disorder,[Etiological subtype],Silver-russell syndrome 3,"[Growth restriction, severe, with distinctive facies]","Silver-Russell syndrome-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay ({2:Begemann et al., 2015}; {7:Yamoto et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 ({180860}).",[616489],[397590],[Silver-Russell syndrome due to a point mutation],[17628],,,,, +GARD:18464,Active,Orphanet+OMIM,OMIM:618907,Subtype of disorder,[Etiological subtype],Silver-russell syndrome 4,,"Silver-Russell syndrome-4 (SRS4) is characterized by intrauterine growth retardation followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face and prominent forehead, and relative macrocephaly at birth may be observed ({1:Abi Habib et al., 2018}).\n\nFor a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 ({180860}).",[618907],[397590],[Silver-Russell syndrome due to a point mutation],[17628],,,,, +GARD:18465,Active,Orphanet+OMIM,OMIM:618908,Subtype of disorder,[Etiological subtype],Silver-russell syndrome 5,,"Silver-Russell syndrome-5 (SRS5) is characterized by intrauterine growth retardation, with feeding difficulties in early childhood and postnatal growth failure. Relative macrocephaly may be present at birth. Other dysmorphic features include triangular face with prominent forehead ({3:De Crescenzo et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 ({180860}).",[618908],[397590],[Silver-Russell syndrome due to a point mutation],[17628],,,,, +GARD:18466,Active,Orphanet+OMIM,OMIM:615595,Subtype of disorder,[Disease subtype],Combined oxidative phosphorylation deficiency 19,,,[615595],[397593],[Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency],[17629],,,,, +GARD:18467,Active,Orphanet+OMIM,OMIM:616546,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 14 with polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {2:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500}).",[616546],[397715],[Joubert syndrome with Jeune asphyxiating thoracic dystrophy],[17637],,,,, +GARD:18468,Active,Orphanet+OMIM,OMIM:615592,Subtype of disorder,[Disease subtype],Immunodeficiency 15b,,"Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by {3:Pannicke et al., 2013}).",[615592],[397787],[Severe combined immunodeficiency due to IKK2 deficiency],[17641],,,,, +GARD:18469,Active,Orphanet+OMIM,OMIM:618204,Subtype of disorder,[Disease subtype],Immunodeficiency 15a,,"Immunodeficiency 15A (IMD15A) is an autosomal dominant primary immunodeficiency disorder characterized by relatively late onset of recurrent respiratory tract infections and lymphopenia, combined with immune activation of both CD4+ and CD8+ T cells. One patient presented with inflammatory disease and possible ectodermal defect.",[618204],[397787],[Severe combined immunodeficiency due to IKK2 deficiency],[17641],,,,, +GARD:1847,Legacy,GARD,,,,,,,,,,,,Diaphragmatic hernia upper limb defects,TRUE,FALSE,Active +GARD:18470,Active,Orphanet+OMIM,OMIM:109730,Subtype of disorder,[Morphological anomaly subtype],Aortic valve disease 1,"[aortic valve, bicuspid, aortic stenosis, calcific, Aortic valve disease, bicuspid aortic valve, aortic valve, calcification of]","Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets ({4:Cripe et al., 2004}). In 1 to 2% of the population a bicuspid aortic valve is present. Bicuspid aortic valve is frequently an antecedent to aortic valve stenosis or insufficiency. In extreme cases the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome ({241550}) ({6:Garg et al., 2005}). The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. Mutations in the signaling and transcription regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in nonsyndromic autosomal dominant human pedigrees.\n\n<Subhead> Genetic Heterogeneity of Aortic Valve Disease\n\nAlso see AOVD2 ({614823}), caused by mutation in the SMAD6 gene ({602931}) on chromosome 15q22, and AOVD3 ({618496}), caused by mutation in the ROBO4 gene ({607528}) on chromosome 11q24. There is evidence for additional genetic heterogeneity (see MAPPING).",[109730],[402075],[Familial bicuspid aortic valve],[17670],,,,, +GARD:18471,Active,Orphanet+OMIM,OMIM:614823,Subtype of disorder,[Morphological anomaly subtype],Aortic valve disease 2,"[aortic valve stenosis, Bicuspid aortic valve]","Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta ({3:Tan et al., 2012}; {1:Luyckx et al., 2019}; {2:Park et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 ({109730}).",[614823],[402075],[Familial bicuspid aortic valve],[17670],,,,, +GARD:18472,Active,Orphanet+OMIM,OMIM:155600,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 1","[melanoma, malignant, melanoma, familial, Melanoma, cutaneous malignant, b-k mole syndrome, dysplastic nevus syndrome, hereditary, familial atypical mole-malignant melanoma syndrome]","Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {57:Habif, 2010}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Cutaneous Malignant Melanoma\n\nThe locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 ({155601}), caused by variation in the CDKN2A gene ({600160}) on chromosome 9p21; CMM3 ({609048}), caused by variation in the CDK4 gene ({123829}) on chromosome 12q14; CMM4 ({608035}), mapped to chromosome 1p22; CMM5 ({613099}), caused by variation in the MC1R gene ({155555}) on chromosome 16q24; CMM6 ({613972}), caused by variation in the XRCC3 gene ({600675}) on chromosome 14q32; CMM7 ({612263}), mapped to chromosome 20q11; CMM8 ({614456}), caused by variation in the MITF gene ({156845}) on chromosome 3p13; CMM9 ({615134}), caused by variation in the TERT gene ({187270}) on chromosome 5p15; and CMM10 ({615848}), caused by mutation in the POT1 gene ({606478}) on chromosome 7q31.\n\nSomatic mutations causing malignant melanoma have also been identified in several genes, including BRAF ({164757}), STK11 ({602216}), PTEN ({601728}), TRRAP ({603015}), DCC ({120470}), GRIN2A ({138253}), ZNF831, BAP1 ({603089}), and RASA2 ({601589}). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E ({164757.0001}) ({34:Davies et al., 2002}; {93:Pollock et al., 2003}).",[155600],"[404560, 618]","[Familial melanoma, Familial atypical multiple mole melanoma syndrome]","[3460, 9281]",,,,, +GARD:18473,Active,Orphanet+OMIM,OMIM:606719,Subtype of disorder,[Disease subtype],Melanoma-pancreatic cancer syndrome,[Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome],"Melanoma-pancreatic cancer syndrome is an inherited cancer predisposition syndrome in which mutation carriers have an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer (summary by {3:Harinck et al., 2012}).\n\nFor background and phenotypic information on malignant melanoma and pancreatic cancer, see {155600} and {260350}, respectively.",[606719],[404560],[Familial atypical multiple mole melanoma syndrome],[9281],,,,, +GARD:18474,Active,Orphanet+OMIM,OMIM:168601,Subtype of disorder,[Disease subtype],"Parkinson disease 1, autosomal dominant","[Parkinson disease 1, autosomal dominant lewy body]","Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; {104300}), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia ({18:Polymeropoulos et al., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.",[168601],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18475,Active,Orphanet+OMIM,OMIM:605543,Subtype of disorder,[Disease subtype],"Parkinson disease 4, autosomal dominant","[Parkinson disease 4, autosomal dominant lewy body]",,[605543],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18476,Active,Orphanet+OMIM,OMIM:607060,Subtype of disorder,[Disease subtype],"Parkinson disease 8, autosomal dominant",,,[607060],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18477,Active,Orphanet+OMIM,OMIM:607688,Subtype of disorder,[Disease subtype],"Parkinson disease 11, autosomal dominant, susceptibility to",,,[607688],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18478,Active,Orphanet+OMIM,OMIM:614203,Subtype of disorder,[Disease subtype],Parkinson disease 17,,"Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {7:Wider et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.",[614203],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18479,Active,Orphanet+OMIM,OMIM:614251,Subtype of disorder,[Disease subtype],"Parkinson disease 18, autosomal dominant, susceptibility to",,"Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {1:Chartier-Harlin et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.",[614251],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18480,Active,Orphanet+OMIM,OMIM:616361,Subtype of disorder,[Disease subtype],Parkinson disease 21,,"Parkinson disease-21 (PARK21) is an autosomal dominant form of typical adult-onset Parkinson disease characterized by tremor, rigidity, bradykinesia, postural instability, and good response to levodopa treatment (summary by {3:Vilarino-Guell et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD ({168600}).",[616361],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18481,Active,Orphanet+OMIM,OMIM:251270,Subtype of disorder,[Malformation syndrome subtype],"Microcephaly and chorioretinopathy, autosomal recessive, 1",,"Microcephaly and chorioretinopathy is an autosomal recessive developmental disorder characterized by delayed psychomotor development and visual impairment, often accompanied by short stature (summary by {5:Martin et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Microcephaly and Chorioretinopathy\n\nSee also MCCRP2 ({616171}), caused by mutation in the PLK4 gene ({605031}) on chromosome 4q27, and MCCRP3 ({616335}), caused by mutation in the TUBGCP4 gene ({609610}) on chromosome 15q15.\n\nAn autosomal dominant form of microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is caused by heterozygous mutation in the KIF11 gene ({148760}) on chromosome 10q23.\n\nSee also Mirhosseini-Holmes-Walton syndrome (autosomal recessive pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.",[251270],[2518],[Autosomal recessive chorioretinopathy-microcephaly syndrome],[16603],,,,, +GARD:18482,Active,Orphanet+OMIM,OMIM:616335,Subtype of disorder,[Malformation syndrome subtype],"Microcephaly and chorioretinopathy, autosomal recessive, 3",,,[616335],[2518],[Autosomal recessive chorioretinopathy-microcephaly syndrome],[16603],,,,, +GARD:18483,Active,Orphanet+OMIM,OMIM:616541,Subtype of disorder,[Malformation syndrome subtype],"Short stature, microcephaly, and endocrine dysfunction",,"In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients ({4:Murray et al., 2015}; {1:Bee et al., 2015}; {2:de Bruin et al., 2015}; {3:Guo et al., 2015}).",[616541],[436182],[Microcephalic primordial dwarfism-insulin resistance syndrome],[17728],,,,, +GARD:18484,Active,Orphanet+OMIM,OMIM:617253,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 10,,,[617253],[436182],[Microcephalic primordial dwarfism-insulin resistance syndrome],[17728],,,,, +GARD:18485,Active,Orphanet+OMIM,OMIM:612591,Subtype of disorder,[Clinical subtype],"Colorectal cancer, susceptibility to, 10","[Colorectal cancer, susceptibility to, on chromosome 19q]",,[612591],[447877],[Polymerase proofreading-related adenomatous polyposis],[17772],,,,, +GARD:18486,Active,Orphanet+OMIM,OMIM:615083,Subtype of disorder,[Clinical subtype],"Colorectal cancer, susceptibility to, 12","[Colorectal cancer, susceptibility to, on chromosome 12q24]","Colorectal cancer-12 (CRCS12) is an autosomal dominant disorder characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset usually occurs before age 40 years. The histologic features of the tumors may be unremarkable ({3:Palles et al., 2013}) or show microsatellite instability (MSI) ({2:Elsayed et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see {114500}.",[615083],[447877],[Polymerase proofreading-related adenomatous polyposis],[17772],,,,, +GARD:18487,Active,Orphanet+OMIM,OMIM:613000,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma, nonepidermolytic, focal 1","[keratoderma, focal nonepidermolytic palmoplantar, Ppkfne, focal nonepidermolytic palmoplantar keratoderma]","Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is an autosomal dominant skin disorder characterized by large, hard, compact, painful masses of keratin that develop at sites of recurrent friction, principally on the feet, though also on the palms and other sites, without evidence of epidermolysis (summary by {1:Kelsell et al., 1995}).",[613000],[448264],[Isolated focal non-epidermolytic palmoplantar keratoderma],[17781],,,,, +GARD:18488,Active,Orphanet+OMIM,OMIM:616400,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma, nonepidermolytic, focal 2",,,[616400],[448264],[Isolated focal non-epidermolytic palmoplantar keratoderma],[17781],,,,, +GARD:18489,Active,Orphanet+OMIM,OMIM:617035,Subtype of disorder,[Morphological anomaly subtype],Patent ductus arteriosus 2,,"The ductus arteriosus is a muscular artery connecting the pulmonary artery and the aorta during fetal life, shunting blood away from the lungs. It normally occludes shortly after birth. Failure of ductal closure results in PDA, one of the most common congenital heart defects, affecting 1 in 2,000 to 1 in 5,000 full-term infants and constituting 5% to 7% of all congenital heart defects (summary by {3:Mani et al., 2005}). PDA can be an isolated anomaly or occur in association with other congenital anomalies (summary by {2:Khetyar et al., 2008}).\n\nFor a discussion of genetic heterogeneity of isolated PDA, see PDA1 ({607411}).",[617035],[466729],[Familial patent arterial duct],[17828],,,,, +GARD:18490,Active,Orphanet+OMIM,OMIM:617039,Subtype of disorder,[Morphological anomaly subtype],Patent ductus arteriosus 3,,"The ductus arteriosus is a vital in utero vascular connection between the aorta and pulmonary artery that allows right ventricular output to bypass the nonventilated fetal lungs. Postnatal closure of the ductus arteriosus is an important step in normal cardiopulmonary transition. Failure of ductal closure results in patent ductus arteriosus (PDA), which occurs in approximately 2 to 8 per 10,000 term infants and constitutes 5% to 7% of all congenital heart defects (summary by {1:Hajj and Dagle, 2012}).\n\nFor a discussion of genetic heterogeneity of isolated PDA, see PDA1 ({607411}).",[617039],[466729],[Familial patent arterial duct],[17828],,,,, +GARD:18491,Active,Orphanet+OMIM,OMIM:616913,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 20",,,[616913],[466806],[Autosomal dominant thrombocytopenia with platelet secretion defect],[17835],,,,, +GARD:18492,Active,Orphanet+OMIM,OMIM:619130,Subtype of disorder,[Disease subtype],Thrombocytopenia 7,"[Thrombocytopenia, autosomal dominant, 7]","Thrombocytopenia-7 (THC7) is an autosomal dominant disorder characterized by reduced peripheral platelet count. The expression and severity of the disorder is highly variable: some patients have no bleeding symptoms, whereas other have recurrent petechiae, epistaxis, or more severe bleeding episodes. A common finding is decreased alpha-granules in the platelets. There are variable findings on light and electron microscopic analysis: some patients have normal platelet morphology, whereas others show abnormal platelet morphology with cytoskeletal defects. Flow cytometric studies may show reduced expression of platelet membrane glycoproteins and activation markers (summary by {2:Lentaigne et al., 2019} and {1:Leinoe et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.",[619130],[466806],[Autosomal dominant thrombocytopenia with platelet secretion defect],[17835],,,,, +GARD:18493,Active,Orphanet+OMIM,OMIM:610448,Subtype of disorder,[Disease subtype],Chilblain lupus 1,,"Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; {152700}) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by {5:Lee-Kirsch et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Chilblain Lupus\n\nSee also CHBL2 ({614415}), caused by mutation in the SAMHD1 gene ({606754}) on chromosome 20q11.\n\nMutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, {225750} and AGS5, {612952}, respectively).",[610448],[481662],[Familial Chilblain lupus],[17874],,,,, +GARD:18494,Active,Orphanet+OMIM,OMIM:614415,Subtype of disorder,[Disease subtype],Chilblain lupus 2,,"Chilblain lupus is a rare cutaneous form of systemic lupus erythematosus (SLE; {152700}) characterized by tender, bluish-red swellings and nodules on the hands, feet, ears, and nose, with histologic changes of lupus. The phenotype is induced by cold, such that patients frequently report a worsening of lesions in the winter months (summary by {1:Ravenscroft et al., 2011}).\n\nFor a general description and a discussion of genetic heterogeneity of chilblain lupus, see CHBL1 ({610448}).",[614415],[481662],[Familial Chilblain lupus],[17874],,,,, +GARD:18495,Active,Orphanet+OMIM,OMIM:616867,Subtype of disorder,[Disease subtype],Spinal muscular atrophy with congenital bone fractures 2,,"Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by {3:Knierim et al., 2016}).\n\nFor a discussion of genetic heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 ({616866}).",[616867],[486811],[Prenatal-onset spinal muscular atrophy with congenital bone fractures],[17882],,,,, +GARD:18496,Active,Orphanet+OMIM,OMIM:616780,Subtype of disorder,[Disease subtype],Oocyte maturation defect 2,,,[616780],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:18497,Active,Orphanet+OMIM,OMIM:617743,Subtype of disorder,[Disease subtype],Oocyte maturation defect 4,,"Oocyte maturation defects due to mutation in PATL2 show phenotypic variability, with some oocytes exhibiting maturation arrest at the germinal vesicle stage and others at the metaphase I stage. In some patients, a few oocytes progress to polar body I; those oocytes either undergo fertilization failure or, in those that are fertilized, early embryonic arrest ({1:Chen et al., 2017}).",[617743],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:18498,Active,Orphanet+OMIM,OMIM:619009,Subtype of disorder,[Disease subtype],Oocyte maturation defect 8,,"Oocyte maturation defect-8 (OOMD8) is characterized by female infertility due to failure of the fertilized ovum to undergo zygotic cleavage ({1:Zheng et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774}).",[619009],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:18499,Active,Orphanet+OMIM,OMIM:619011,Subtype of disorder,[Disease subtype],Oocyte maturation defect 9,,"Oocyte maturation defect-9 (OOMD9) is characterized by female infertility due to oocyte meiotic arrest at metaphase I in most patients. Abnormal zygotic cleavage has also been observed ({1:Zhang et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774}).",[619011],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:185,Legacy,GARD,,,,,,,,,,,,Y chromosome infertility,TRUE,FALSE,Active +GARD:1850,Active,Orphanet,ORPHA:37042,Disorder,[Disease],Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,"[Autoimmune enteropathy type 1, IPEX]","A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.",[304790],,,,,"Immunodysregulation, polyendocrinopathy and enteropathy X-linked",TRUE,FALSE,Active +GARD:18500,Active,Orphanet+OMIM,OMIM:619176,Subtype of disorder,[Disease subtype],Oocyte maturation defect 10,,"Oocyte maturation defect-10 (OOMD10) is characterized by high rates of abnormal fertilization of mature oocytes, with development of multiple pronuclei or absent pronucleus. Morphologically normal zygotes often undergo early embryonic arrest, and surviving embryos fail to establish a successful pregnancy after implantation ({1:Wang et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774}).",[619176],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:18501,Active,Orphanet+OMIM,OMIM:616973,Subtype of disorder,[Malformation syndrome subtype],"Intellectual developmental disorder, autosomal dominant 42","[Mental retardation, autosomal dominant 42]","Autosomal dominant intellectual developmental disorder-42 (MRD42) is characterized by global developmental delay and impaired intellectual development. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by {4:Petrovski et al., 2016}).",[616973],[488613],[Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome],[17893],,,,, +GARD:18502,Active,Orphanet+OMIM,OMIM:616917,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy","[intellectual developmental disorder, autosomal recessive 53, formerly, Glycosylphosphatidylinositol biosynthesis defect 13, mental retardation, autosomal recessive 53, formerly]","Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) is an autosomal recessive disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar atrophy, ataxia, and nonspecific dysmorphic features. NEDHSCA is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway. Some patients with NEDHSCA may have the Emm-null blood group phenotype (see {619812}) (summary by {4:Makrythanasis et al., 2016}; {2:Duval et al., 2021}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[616917],[488635],[Early-onset epilepsy-intellectual disability-brain anomalies syndrome],[17897],,,,, +GARD:18503,Active,Orphanet+OMIM,OMIM:400042,Subtype of disorder,[Malformation syndrome subtype],"Spermatogenic failure, y-linked, 1",,"In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules ({13:Sargent et al., 1999}).\n\nAnother, possibly X-linked, form of Sertoli cell-only syndrome has also been reported ({305700}).\n\n<Subhead> Heterogeneity of Spermatogenic Failure\n\nSee {415000} for a general discussion of the AZF region of the Y chromosome and Y-linked nonobstructive spermatogenic failure.\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[400042],[1646],[Partial chromosome Y deletion],[16574],,,,, +GARD:18504,Active,Orphanet+OMIM,OMIM:415000,Subtype of disorder,[Malformation syndrome subtype],"Spermatogenic failure, y-linked, 2","[Spermatogenic failure, nonobstructive, y-linked, spermatogenic arrest, y-linked, azoospermia, nonobstructive, y-linked, oligozoospermia, nonobstructive, y-linked, oligospermia, nonobstructive, y-linked]","About 2 to 3% of human males are infertile because of defects in sperm function, primarily due to oligozoospermia (defined as less than 10-15 million sperm per mL of semen) or azoospermia ({20:Hull et al., 1985}).\n\n<Subhead> Heterogeneity of Spermatogenic Failure\n\nFor a discussion of Y-linked spermatogenic failure due to Sertoli cell-only syndrome, see {400042}.\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[415000],[1646],[Partial chromosome Y deletion],[16574],,,,, +GARD:18505,Active,Orphanet+OMIM,OMIM:252270,Subtype of disorder,[Disease subtype],Monosomy 7 myelodysplasia and leukemia syndrome 1,"[monosomy 7 of bone marrow, Mlsm7, chromosome 7q deletion]","Monosomy 7 myelodysplasia and leukemia syndrome-1 (M7MLS1) is an autosomal dominant hematologic disorder with highly variable manifestations. Most patients present in early childhood with pancytopenia and dyspoietic or dysplastic changes in the bone marrow. These abnormalities are almost always associated with monosomy 7 in the bone marrow. In severely affected individuals, the phenotype progresses to frank myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML). Less severely affected individuals may have transient thrombocytopenia or anemia, or have normal peripheral blood counts with transient bone marrow abnormalities or transient monosomy 7. Germline mutations in the SAMD9L gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by {18:Wong et al., 2018}).\n\nMonosomy 7 or partial deletion of the long arm of chromosome 7 (7q-) is a frequent cytogenetic finding in the bone marrow of patients with myelodysplasia and acute myelogenous leukemia. Furthermore, monosomy 7 or 7q- is the most frequent abnormality of karyotype in cases of AML that occur after cytotoxic cancer therapy or occupational exposure to mutagens. The age distribution of de novo cases shows peaks in the first and fifth decades. Monosomy 7 is found in about 5% of de novo and 40% of secondary cases of AML. These findings suggest that loss of certain genes at this region is an important event in the development of myelodysplasia (summary by {16:Shannon et al., 1989}).\n\n<Subhead> Genetic Heterogeneity of Monosomy 7 Myelodysplastic and Leukemia Syndrome\n\nSee also M7MLS2 ({619041}), caused by germline mutation in the SAMD9 gene ({610457}) on chromosome 7q21.",[252270],[495930],[Familial monosomy 7 syndrome],[3765],,,,, +GARD:18506,Active,Orphanet+OMIM,OMIM:619041,Subtype of disorder,[Disease subtype],Monosomy 7 myelodysplasia and leukemia syndrome 2,,"Monosomy 7 myelodysplasia and leukemia syndrome-2 (M7MLS2) is an autosomal dominant hematologic disorder characterized by onset of pancytopenia, acute myelogenous leukemia (AML), and variable features of myelodysplastic syndrome (MDS) usually in the first decades of life. Bone marrow cells show monosomy 7. Germline mutations in the SAMD9 gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by {3:Wong et al., 2018}).\n\nFor a discussion of genetic heterogeneity of monosomy 7 myelodysplasia and leukemia syndrome, see {252270}.",[619041],[495930],[Familial monosomy 7 syndrome],[3765],,,,, +GARD:18507,Active,Orphanet+OMIM,OMIM:618097,Subtype of disorder,[Disease subtype],"Microcephaly, growth restriction, and increased sister chromatid exchange 2",,"MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM; {210900}), but patients with mutations in the TOP3A gene do not have a malar rash (summary by {1:Martin et al., 2018}).\n\nFor a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; {210900})",[618097],[508512],[Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome],[17949],,,,, +GARD:18508,Active,Orphanet+OMIM,OMIM:617660,Subtype of disorder,[Malformation syndrome subtype],"Vertebral, cardiac, renal, and limb defects syndrome 1","[3-hydroxyanthranilic acidemia, Congenital nad deficiency disorder 1]","VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by {1:Shi et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Vertebral, Cardiac, Renal, and Limb Defects Syndrome\n\nVCRL2 ({617661}) is caused by mutation in the KYNU gene ({605197}) on chromosome 2q22. VCRL3 ({618845}) is caused by mutation in the NADSYN1 gene ({608285}) on chromosome 11q13.",[617660],[521438],[Congenital vertebral-cardiac-renal anomalies syndrome],[17961],,,,, +GARD:18509,Active,Orphanet+OMIM,OMIM:617661,Subtype of disorder,[Malformation syndrome subtype],"Vertebral, cardiac, renal, and limb defects syndrome 2","[Congenital nad deficiency disorder 2, kynureninase deficiency, complete]","VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by {1:Shi et al., 2017}).\n\nFor a discussion of genetic heterogeneity of VCRL, see VCRL1 ({617660}).",[617661],[521438],[Congenital vertebral-cardiac-renal anomalies syndrome],[17961],,,,, +GARD:1851,Active,Orphanet,ORPHA:1671,Subtype of disorder,[Clinical subtype],Split cord malformation type I,"[SCM type 1, SCM type I, Split cord malformation type 1]","A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus.",[222500],,,,,Split spinal cord malformation,TRUE,FALSE,Active +GARD:18510,Active,Orphanet+OMIM,OMIM:618845,Subtype of disorder,[Malformation syndrome subtype],"Vertebral, cardiac, renal, and limb defects syndrome 3",[Congenital nad deficiency disorder 3],"Vertebral, cardiac, renal, and limb defects syndrome-3 (VCRL3) is an autosomal recessive disorder characterized by severe cardiac and renal anomalies that are lethal in infancy, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia ({1:Szot et al., 2020}).\n\nFor a discussion of genetic heterogeneity of VCRL, see VCRL1 ({617660}).",[618845],[521438],[Congenital vertebral-cardiac-renal anomalies syndrome],[17961],,,,, +GARD:18511,Active,Orphanet+OMIM,OMIM:301029,Subtype of disorder,[Disease subtype],Shukla-vernon syndrome,,"Shukla-Vernon syndrome (SHUVER) is an X-linked recessive neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development, and behavioral abnormalities, including autism spectrum disorder and ADHD. Dysmorphic features are common and may include tall forehead, downslanting palpebral fissures, and tapering fingers. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier mothers may have mild manifestations, including learning disabilities (summary by {2:Shukla et al., 2019}).",[301029],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18512,Active,Orphanet+OMIM,OMIM:606053,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with autism and speech delay,"[autism-related speech delay, Phrase speech delay, autism-related, autism, susceptibility to, 5, formerly]","IDDAS is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits ({3:Deriziotis et al., 2014}; {2:den Hoed et al., 2018}).",[606053],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18513,Active,Orphanet+OMIM,OMIM:617755,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,,"NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by {3:Stankiewicz et al., 2017}).",[617755],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18514,Active,Orphanet+OMIM,OMIM:618009,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 61","[Mental retardation, autosomal dominant 61]","Autosomal dominant intellectual developmental disorder-61 (MRD61) is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). Most affected individuals learn to walk on time or with some mild delay. Additional features are highly variable and may include nonspecific dysmorphic features, obstipation, ocular anomalies, and poor overall growth ({1:Snijders Blok et al., 2018}).",[618009],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18515,Active,Orphanet+OMIM,OMIM:618292,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia",,,[618292],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18516,Active,Orphanet+OMIM,OMIM:618342,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature",,,[618342],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18517,Active,Orphanet+OMIM,OMIM:618430,Subtype of disorder,[Disease subtype],Developmental delay with variable intellectual impairment and behavioral abnormalities,,"Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) is an autosomal dominant neurodevelopmental disorder. Most patients have impaired intellectual development with speech difficulties, and many have behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity. Many patients have dysmorphic features, although there is not a consistent gestalt. Additional more variable features may include hypotonia, somatic overgrowth with macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation. The phenotype is highly variable (summary by {5:Vetrini et al., 2019} and {4:Torti et al., 2019}).",[618430],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18518,Active,Orphanet+OMIM,OMIM:618470,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with severe speech and ambulation defects,,"Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) is an autosomal dominant neurodevelopmental disorder with onset of features in infancy or early childhood. Affected individuals have global developmental delay with impaired intellectual development and absent speech, and most cannot walk independently. Common dysmorphic features include prominent forehead and wide mouth (summary by {1:Bell et al., 2019}).",[618470],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18519,Active,Orphanet+OMIM,OMIM:618569,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly",,,[618569],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18520,Active,Orphanet+OMIM,OMIM:618653,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with impaired language and dysmorphic facies,,"Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) is an autosomal dominant disorder characterized by global developmental delay apparent from infancy, impaired language development, and dysmorphic facial features, including hypertelorism, epicanthal folds, and abnormal palpebral fissures. Some patients may have additional findings, including feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies (summary by {1:Balak et al., 2019}).",[618653],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18521,Active,Orphanet+OMIM,OMIM:618659,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies,,"Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a global neurodevelopmental disorder with highly variable features. Patients often show poor feeding, poor overall growth, and hypotonia from early infancy, followed by mildly delayed motor development, poor language acquisition, and behavioral abnormalities. Intellectual development varies from severe with absent speech to mild with the ability to attend special schools. Common features include dysmorphic facial features with notable eye anomalies, joint hypermobility, and mild skeletal anomalies of the hands and feet (summary by {1:Carapito et al., 2019}).",[618659],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18522,Active,Orphanet+OMIM,OMIM:618906,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder with autistic features and language delay, with or without seizures",,"Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS), is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum. About half of patients develop seizures; brain imaging is typically normal. Additional features are highly variable, but may include chronic constipation, walking difficulties, and dysmorphic facial features (summary by {3:Guo et al., 2019}).",[618906],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18523,Active,Orphanet+OMIM,OMIM:618914,Subtype of disorder,[Disease subtype],"Neurodevelopmental, jaw, eye, and digital syndrome",,"Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is characterized by phenotypic diversity, with patients exhibiting a range of overlapping phenotypes. Most patients show developmental delay ranging from mild to severe, and often have behavioral disorders as well. Brain imaging shows hypoplasia of the corpus callosum, prominence of lateral ventricles, and/or white matter abnormalities. Many patients have retro- or micrognathia, but mild prognathism has also been observed. Ocular anomalies are variably present, and may be severe and complex; however, some patients show only mild myopia. Abnormalities of fingers and toes include brachydactyly, clinodactyly, syndactyly, and contractures; polydactyly is rarely seen ({1:Holt et al., 2019}).",[618914],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18524,Active,Orphanet+OMIM,OMIM:618922,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities",,"Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects. Death in childhood may occur (summary by {2:Marafi et al., 2020}).",[618922],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18525,Active,Orphanet+OMIM,OMIM:618971,Subtype of disorder,[Disease subtype],Tolchin-le caignec syndrome,[Intellectual developmental disorder with behavioral abnormalities and variable bone defects],"Tolchin-Le Caignec syndrome (TOLCAS) is a developmental disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes. Many patients have bony abnormalities, including osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference. Rarely, additional congenital anomalies may also be observed. These additional features and the bony defects are highly variable (summary by {1:Tolchin et al., 2020}).",[618971],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18526,Active,Orphanet+OMIM,OMIM:618974,Subtype of disorder,[Disease subtype],Li-ghorbani-weisz-hubshman syndrome,,"Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is a neurodevelopmental disorder characterized by global developmental delay, mild to moderately impaired intellectual development with language delay, and mild dysmorphic features. Affected individuals may have behavioral abnormalities and difficulties with numbers and understanding certain concepts, such as money. Some patients have seizures. Brain imaging often shows enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia, suggesting abnormal cortical brain development. More variable additional features may be present (summary by {1:Li et al., 2020}).",[618974],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18527,Active,Orphanet+OMIM,OMIM:619000,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with seizures and language delay,,"Intellectual developmental disorder with seizures and language delay (IDDSELD) is characterized by global developmental delay with speech and language impairment and onset of seizures usually in the first few years of life. Seizures tend to be myoclonic, although variable types have been reported. Many patients have accompanying behavioral abnormalities, most commonly autism spectrum disorder and anxiety. Additional features, such as facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed (summary by {6:Roston et al., 2021}).",[619000],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18528,Active,Orphanet+OMIM,OMIM:619005,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia",,"Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) is an autosomal recessive disorder characterized by global developmental delay and mildly to severely impaired intellectual development with poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism. Aside from dysmorphic facial features and occasional findings such as scoliosis or undescended testes, other organ systems are not involved (summary by {3:Schneeberger et al., 2020}).",[619005],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18529,Active,Orphanet+OMIM,OMIM:619031,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies",,"IDDEBF is a severe disorder characterized by impaired intellectual development, epilepsy, behavioral abnormalities, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes ({1:Kvarnung et al., 2018}).",[619031],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:1853,Legacy,GARD,,,,,,,,,,,,Dibasic aminoaciduria 2,TRUE,FALSE,Active +GARD:18530,Active,Orphanet+OMIM,OMIM:619056,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with speech impairment and dysmorphic facies,,"Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) is characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition. Additional features include dysmorphic facies, distal limb anomalies, gastrointestinal problems or feeding difficulties, and hypotonia. The phenotypic features and severity of the disorder are variable (summary by {3:Kummeling et al., 2021}).",[619056],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18531,Active,Orphanet+OMIM,OMIM:619072,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with seizures and brain atrophy,,"Neurodevelopmental disorder with seizures and brain atrophy (NEDSEBA) is an autosomal recessive disorder with highly variable manifestations and severity of these core features. The most severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion or planned termination. Those that survive may present with severe seizures at birth, have poor overall growth with small head circumference, achieve no developmental progress, and show significant brain atrophy and other brain abnormalities. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy (summary by {1:Coulter et al., 2020}).",[619072],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18532,Active,Orphanet+OMIM,OMIM:619076,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy",,"Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB) is an autosomal recessive disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life; eventually they are unable to sit, feed, or communicate, and may be unresponsive to stimuli. Other features include muscle weakness, spasticity with hyperreflexia, irritability, and contractures ({1:Coulter et al., 2020}).",[619076],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18533,Active,Orphanet+OMIM,OMIM:619083,Subtype of disorder,[Disease subtype],Delpire-mcneill syndrome,,"Delpire-McNeill syndrome (DELMNES) is a neurodevelopmental disorder with highly variable manifestations. Patients present in infancy with global developmental delay, including motor, speech, and impaired intellectual development. The most severely affected patients have hypotonia, inability to hold their head or walk, bilateral sensorineural deafness, and absent language, whereas others have delayed walking and mild to moderate intellectual disability, often with speech delay and autistic features. More variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect (summary by {1:McNeill et al., 2020}).",[619083],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18534,Active,Orphanet+OMIM,OMIM:619091,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities",,"Neurodevelopmental disorder with microcephaly, language delay, and gait abnormalities (NEDMILG) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems ({1:Manole et al., 2020}).",[619091],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18535,Active,Orphanet+OMIM,OMIM:619092,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities",,"Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG) is characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems ({1:Manole et al., 2020}).",[619092],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18536,Active,Orphanet+OMIM,OMIM:619099,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with speech delay and axonal peripheral neuropathy,,"Intellectual developmental disorder with speech delay and axonal peripheral neuropathy (IDDSAPN) is an autosomal recessive neurologic disorder characterized by mild global developmental delay with motor impairment and severe speech delay apparent in the first years of life. Affected individuals begin to walk independently between 3 and 4 years of age, but often have an unsteady or ataxic gait. Most patients have progressive distal muscle weakness and atrophy of the lower limbs, foot or hand deformities, and dysarthria, consistent with a peripheral neuropathy. There is mildly impaired intellectual development. Some patients may have behavioral anomalies, such as autistic features or attention deficit-hyperactivity disorder (ADHD), and some can attend special schools. The overall clinical features indicate involvement of both the central and peripheral nervous systems (summary by {3:Martin et al., 2020} and {1:Ahmed et al., 2021})",[619099],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18537,Active,Orphanet+OMIM,OMIM:619125,Subtype of disorder,[Disease subtype],Kaya-barakat-masson syndrome,,"Kaya-Barakat-Masson syndrome (KABAMAS) is a severe autosomal recessive neurodevelopmental disorder characterized by profoundly impaired global development with variable motor abnormalities, such as axial hypotonia, peripheral spasticity, dystonia, and poor coordination, resulting in the inability to sit or walk. Affected individuals have impaired intellectual development with absent speech, poor eye contact, and feeding difficulties, resulting in poor overall growth, sometimes with microcephaly. Dysmorphic features are generally not present. Additional more variable features include early-onset seizures, ocular anomalies, foot deformities, and nonspecific brain imaging findings, such as thin corpus callosum and cerebral, cerebellar, or pontine atrophy. Some patients may die in infancy or early childhood (summary by {1:AlMuhaizea et al., 2020} and {2:Diaz et al., 2020}).",[619125],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18538,Active,Orphanet+OMIM,OMIM:619149,Subtype of disorder,[Disease subtype],Lessel-kreienkamp syndrome,,"Lessel-Kreienkamp syndrome (LESKRES) is a neurodevelopmental disorder characterized by global developmental delay with intellectual disability and speech and language delay apparent from infancy or early childhood. The severity of the disorder is highly variable: some patients have mildly delayed walking and mild cognitive deficits, whereas others are nonambulatory and nonverbal. Most have behavioral disorders. Additional features, including seizures, hypotonia, gait abnormalities, visual defects, cardiac defects, and nonspecific dysmorphic facial features may also be present (summary by {1:Lessel et al., 2020}).",[619149],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18539,Active,Orphanet+OMIM,OMIM:619157,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with or without early-onset generalized epilepsy,,"Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) is characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. About half of patients develop early-onset generalized epilepsy with different seizure types; myoclonic seizures and myoclonic-atonic epilepsy are commonly observed. The seizures may remit with age or remain refractory to treatment. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities (summary by {3:Mulhern et al., 2018}).",[619157],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:1854,Legacy,GARD,,,,,,,,,,,,Dibasic aminoaciduria 1,TRUE,FALSE,Active +GARD:18540,Active,Orphanet+OMIM,OMIM:619239,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with or without autism or seizures,,"Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures. Others have autistic features or behavioral abnormalities. Additional variable systemic features may also be present, such as cardiac defects, failure to thrive, or brain imaging anomalies (summary by {5:Nakashima et al., 2020}).",[619239],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18541,Active,Orphanet+OMIM,OMIM:619243,Subtype of disorder,[Disease subtype],Global developmental delay with speech and behavioral abnormalities,,"Global developmental delay with speech and behavioral abnormalities (GDSBA) is characterized by developmental delay apparent from infancy or early childhood. Affected individuals have mildly delayed fine and motor skills with walking by 3 years of age, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and ADHD. Some patients may have additional nonspecific features, such as facial dysmorphism, myopia or strabismus, and skeletal defects, including joint hypermobility, pes planus, or slender fingers (summary by {2:Granadillo et al., 2020}).",[619243],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18542,Active,Orphanet+OMIM,OMIM:619244,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism,,"Neurodevelopmental disorder with cerebral atrophy and facial dysmorphism (NEDCAFD) is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Most patients have variable dysmorphic facial features including prominent eyes, protruding and low-set ears, and thin upper lip. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern (summary by {2:Rasheed et al., 2021}).",[619244],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18543,Active,Orphanet+OMIM,OMIM:619264,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with dysmorphic facies and variable seizures,,"Neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS) is an autosomal recessive disorder characterized by global developmental delay apparent in early childhood. Patients have mildly impaired intellectual development, often with speech delay or behavioral abnormalities. Some may have seizures. Most have nonspecific dysmorphic facial features. Additional findings may include brain imaging abnormalities, mild skeletal defects, and renal abnormalities, although the renal anomalies may be unrelated (summary by {1:Shao et al., 2021}).",[619264],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18544,Active,Orphanet+OMIM,OMIM:619268,Subtype of disorder,[Disease subtype],Alzahrani-kuwahara syndrome,[Neurodevelopmental disorder with dysmorphic facies and cataracts],"Alzahrani-Kuwahara syndrome (ALKUS) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay with severely impaired intellectual function and poor or absent speech. Patients have poor overall growth and dysmorphic facial features. More variable findings include early-onset cataracts, hypotonia, congenital heart defects, lower limb spasticity, and hypospadias (summary by {1:Alzahrani et al., 2020}).",[619268],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18545,Active,Orphanet+OMIM,OMIM:619306,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia,,"Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. The phenotype is variable: more severely affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling. Brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia, although other features, such as thin corpus callosum and delayed myelination, may also be present. Dysmorphic facial features include sloping forehead, upslanting palpebral fissures, and hypertelorism. Additional more variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures (summary by {1:Van Bergen et al., 2020}).",[619306],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18546,Active,Orphanet+OMIM,OMIM:619314,Subtype of disorder,[Disease subtype],Buratti-harel syndrome,,"Buratti-Harel syndrome (BURHAS) is a neurodevelopmental disorder characterized by infantile hypotonia, global developmental delay, mild motor and speech delay, and mild to moderately impaired intellectual development. Some patients are able to attend special schools and show learning difficulties, whereas others are more severely affected. Patients have prominent dysmorphic facial features, including hypertelorism, downslanting palpebral fissures, strabismus, and small low-set ears. Additional features may include laryngomalacia with feeding difficulties and distal skeletal anomalies (summary by {1:Buratti et al., 2021}).",[619314],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18547,Active,Orphanet+OMIM,OMIM:619320,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 65","[Mental retardation, autosomal dominant 65]","Autosomal dominant intellectual developmental disorder-65 (MRD65) is characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities. Affected individuals also have dysmorphic facial features. Brain imaging may be normal or may show abnormalities, including cerebellar hypoplasia, poor development of the corpus callosum, dysmorphic hippocampus, and polymicrogyria. Feeding difficulties, hypotonia, and seizures may also be observed ({1:Duncan et al., 2020}).",[619320],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18548,Active,Orphanet+OMIM,OMIM:616331,Subtype of disorder,[Clinical subtype],"Robinow syndrome, autosomal dominant 2",,"Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by {1:Bunn et al., 2015}). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 ({5:White et al., 2015}; {1:Bunn et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Robinow syndrome, see RRS ({268310}).",[616331],[3107],[Autosomal dominant Robinow syndrome],[16620],,,,, +GARD:18549,Active,Orphanet+OMIM,OMIM:616894,Subtype of disorder,[Clinical subtype],"Robinow syndrome, autosomal dominant 3",,"The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by {1:White et al., 2016}).\n\nFor a discussion of genetic heterogeneity in Robinow syndrome, see RRS ({268310}).",[616894],[3107],[Autosomal dominant Robinow syndrome],[16620],,,,, +GARD:1855,Active,Orphanet,ORPHA:2195,Disorder,[Disease],Dicarboxylic aminoaciduria,[Glutamate-aspartate transport defect],"Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.",[222730],,,,,Dicarboxylic aminoaciduria,TRUE,FALSE,Active +GARD:18550,Active,Orphanet+OMIM,OMIM:235400,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 1","[Ahus, susceptibility to, 1]","Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported ({18:Goodship et al., 1997}; {52:Taylor, 2001}; {55:Veyradier et al., 2003}; {37:Noris et al., 2003}). {38:Noris and Remuzzi (2009)} provided a detailed review of atypical HUS.\n\n<Subhead> Genetic Heterogeneity of Atypical Hemolytic Uremic Syndrome\n\nAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system ({24:Jozsi et al., 2008}). See AHUS2 ({612922}), AHUS3 ({612923}), AHUS4 ({612924}), AHUS5 ({612925}), and AHUS6 ({612926}). AHUS7 (see {615008}) is caused by mutation in the DGKE gene ({601440}), which is not part of the complement cascade system.",[235400],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18551,Active,Orphanet+OMIM,OMIM:609814,Subtype of disorder,[Etiological subtype],Complement factor h deficiency,"[cfh deficiency, factor h deficiency, C3 glomerulopathy 1]","Complement factor H deficiency (CFHD) has a variable phenotype. Some patients present with recurrent infections, including increased susceptibility to meningococcal infections, whereas others develop renal disease manifest primarily as C3 glomerulopathy. Affected individuals usually present in the first decades of life with nonspecific findings such as hematuria and may progress to chronic renal failure. As complement factor H is the key regulator of the alternative pathway of the complement system, CFH deficiency results in inappropriate activation of the alternative complement pathway. Laboratory features usually include decreased serum levels of factor H, due to the genetic defect, as well as secondarily decreased levels of complement component C3 ({120700}) and other alternative pathway components, consistent with consumption of these factors. The renal phenotype is now considered to be a form of C3 glomerulopathy (C3G), which is a pathologic entity in which C3 is deposited within the kidney glomerulus in the mesangial or intramembranous space; this occurs in the absence of immune complexes or immunoglobulins. Terms used to describe this disease include membranoproliferative glomerulonephritis type II (MPGN II), mesangial glomerulonephritis, dense deposit disease (DDD), and C3 glomerulonephritis (summary by {4:Ault, 2000}, reviews by {17:Riedl et al., 2017} and {22:Wong and Kavanagh, 2018}).\n\n<Subhead> Nomenclature and Classification\n\nSeveral reviews ({10:Ito et al., 2017}, {17:Riedl et al., 2017}, {22:Wong and Kavanagh, 2018}) have noted that the definition and classification of C3G continues to evolve. Historically, C3G has been referred to as type II membranoproliferative glomerulonephritis (MPGN) or dense deposit disease (DDD) with mesangial or intramembranous deposition of electron dense material. In contrast, MPGN types I and III, which are usually associated with immune complex deposition, tend to show subendothelial and subepithelial electron dense deposits. However, there is significant variability, and the differentiation and distinction between these terms is often unclear. {21:Welch (2002)} also discussed the role of complement in renal disease.\n\nA subgroup of patients with MGPN II who do not have mutations in the CFH gene are positive for serum C3 nephritic factor (C3NeF), which is an autoantibody directed against C3bBb, the convertase of the alternative pathway of the complement cascade. Presence of C3NeF prolongs the half-life of C3 convertase, which also results in inappropriate activation of the complement cascade (summary by {1:Abrera-Abeleda et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of C3G\n\nC3G2 ({610984}) is caused by mutation in the CFI gene ({217030}) on chromosome 4q25, and C3G3 ({614809}) is caused by mutation in the CFHR5 gene ({608593}) on chromosome 1q31.",[609814],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18552,Active,Orphanet+OMIM,OMIM:612922,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 2","[Ahus, susceptibility to, 2]",,[612922],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18553,Active,Orphanet+OMIM,OMIM:612923,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 3","[Ahus, susceptibility to, 3]",,[612923],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18554,Active,Orphanet+OMIM,OMIM:612924,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 4","[Ahus, susceptibility to, 4]",,[612924],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18555,Active,Orphanet+OMIM,OMIM:612925,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 5","[Ahus, susceptibility to, 5]",,[612925],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18556,Active,Orphanet+OMIM,OMIM:612926,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 6","[Ahus, susceptibility to, 6]",,[612926],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18557,Active,Orphanet+OMIM,OMIM:615008,Subtype of disorder,[Etiological subtype],"Nephrotic syndrome, type 7","[Nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis]","Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. Some patients may benefit from immunosuppressive therapy (summary by {2:Ozaltin et al., 2013}).\n\nAtypical hemolytic uremic syndrome-7 is characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system (summary by {1:Lemaire et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 ({235400}).",[615008],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18558,Active,Orphanet+OMIM,OMIM:190440,Subtype of disorder,[Morphological anomaly subtype],Trigonocephaly 1,"[Craniosynostosis, metopic]","Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by {1:Frydman et al., 1984}).\n\n<Subhead> Genetic Heterogeneity of Isolated Trigonocephaly\n\nAlso see trigonocephaly-2 (TRIGNO2; {614485}), caused by mutation in the FREM1 gene ({608944}) on chromosome 9p22.",[190440],[3366],[Non-syndromic metopic craniosynostosis],[16626],,,,, +GARD:18559,Active,Orphanet+OMIM,OMIM:614485,Subtype of disorder,[Morphological anomaly subtype],Trigonocephaly 2,"[Craniosynostosis, metopic]","Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by {2:Vissers et al., 2011}).\n\nFor a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 ({190440}).\n\nA syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see {158170}).",[614485],[3366],[Non-syndromic metopic craniosynostosis],[16626],,,,, +GARD:18560,Active,Orphanet+OMIM,OMIM:619217,Subtype of disorder,[Malformation syndrome subtype],"Endove syndrome, limb-only type",,"Limb-only ENDOVE syndrome (ENDOVESL) is characterized by marked mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. Patients also exhibit abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies have been observed ({1:Allou et al., 2021}).",[619217],[611223],[EN1-related dorsoventral syndrome],[18027],,,,, +GARD:18561,Active,Orphanet+OMIM,OMIM:619218,Subtype of disorder,[Malformation syndrome subtype],"Endove syndrome, limb-brain type","[Mesomelia of lower extremities with hand, foot, and brain anomalies]","Limb-brain ENDOVE syndrome (ENDOVESLB) is characterized by marked mesomelic shortening of the lower limbs due to severe hypoplasia of the tibia and fibula. The talus is absent and foot bones are rudimentary. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. In addition, there is cerebellar aplasia with hypoplasia of the brainstem ({1:Allou et al., 2021}).",[619218],[611223],[EN1-related dorsoventral syndrome],[18027],,,,, +GARD:18562,Active,Orphanet+OMIM,OMIM:619301,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 14",,"Pontocerebellar hypoplasia type 14 (PCH14) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include hypotonia, spastic quadriplegia, and early-onset seizures. Brain imaging shows pontocerebellar hypoplasia, agenesis or partial agenesis of the corpus callosum, and sometimes a simplified gyral pattern. Early death may occur (summary by {1:Chai et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[619301],[613274],[Pontocerebellar hypoplasia type 14],[18032],,,,, +GARD:18563,Active,Orphanet+OMIM,OMIM:619302,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 15",,"Pontocerebellar hypoplasia type 15 (PCH15) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include spastic quadriplegia, early-onset seizures, and chronic anemia and thrombocytopenia. Brain imaging shows pontocerebellar hypoplasia and partial agenesis of the corpus callosum (summary by {1:Chai et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[619302],[613274],[Pontocerebellar hypoplasia type 14],[18032],,,,, +GARD:18564,Active,Orphanet+OMIM,OMIM:616286,Subtype of disorder,[Malformation syndrome subtype],Lethal congenital contracture syndrome 7,,"Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita (AMC), is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period ({2:Laquerriere et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 ({253310}).",[616286],[2680],[Hypomyelination neuropathy-arthrogryposis syndrome],[16604],,,,, +GARD:18565,Active,Orphanet+OMIM,OMIM:616287,Subtype of disorder,[Malformation syndrome subtype],Lethal congenital contracture syndrome 8,,"Lethal congenital contracture syndrome-8 (LCCS8), an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period ({3:Laquerriere et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 ({253310}).",[616287],[2680],[Hypomyelination neuropathy-arthrogryposis syndrome],[16604],,,,, +GARD:18566,Active,Orphanet+OMIM,OMIM:617468,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect","[Arthrogryposis multiplex congenita, neurogenic, with myelin defect]","AMC1 is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by {1:Xue et al., 2017}).\n\n<Genetic Heterogeneity of Arthrogryposis Multiplex Congenita\n\nAlso see AMC2 ({208100}), caused by mutation in the ERGIC1 gene ({617946}); AMC3 ({618484}), caused by mutation in the SYNE1 gene ({608441}); AMC4 ({618776}), caused by mutation in the SCYL2 gene ({616365}); AMC5 ({618947}), caused by mutation in the TOR1A gene ({605204}), and AMC6 ({619334}), caused by mutation in the NEB gene ({161650})",[617468],[2680],[Hypomyelination neuropathy-arthrogryposis syndrome],[16604],,,,, +GARD:18567,Active,Orphanet+OMIM,OMIM:618186,Subtype of disorder,[Malformation syndrome subtype],"Neuropathy, congenital hypomyelinating, 3",,"Congenital hypomyelinating neuropathy-3 is an autosomal recessive neurologic disorder characterized by onset of neurogenic muscle impairment in utero. Affected individuals present at birth with severe hypotonia, often causing respiratory insufficiency or failure and inability to swallow or feed properly. They have profoundly impaired psychomotor development and may die in infancy or early childhood. Those that survive are unable to sit or walk. Sural nerve biopsy shows hypomyelination of the nerve fibers, and brain imaging often shows impaired myelination and cerebral and cerebellar atrophy. Nerve conduction velocities are severely decreased (about 10 m/s) or absent due to improper myelination (summary by {5:Vallat et al., 2016} and {2:Low et al., 2018}).\n\nFor a discussion of genetic heterogeneity of CHN, see CHN1 ({605253}).",[618186],[2680],[Hypomyelination neuropathy-arthrogryposis syndrome],[16604],,,,, +GARD:18568,Active,Orphanet+OMIM,OMIM:612336,Subtype of disorder,[Disease subtype],"Thrombophilia due to protein s deficiency, autosomal dominant",,"Heterozygous protein S deficiency, like protein C deficiency ({176860}), is characterized by recurrent venous thrombosis. {2:Bertina (1990)} classified protein S deficiency into 3 clinical subtypes based on laboratory findings. Type I refers to deficiency of both free and total protein S as well as decreased protein S activity; type II shows normal plasma values, but decreased protein S activity; and type III shows decreased free protein S levels and activity, but normal total protein S levels. Approximately 40% of protein S circulates as a free active form, whereas the remaining 60% circulates as an inactive form bound to C4BPA ({120830}).\n\n{24:Zoller et al. (1995)} observed coexistence of type I and type III PROS1-deficient phenotypes within a single family and determined that the subtypes are allelic. Under normal conditions, the concentration of protein S exceeds that of C4BPA by approximately 30 to 40%. Thus, free protein S is the molar surplus of protein S over C4BPA. Mild protein S deficiency will thus present with selective deficiency of free protein S, whereas more pronounced protein S deficiency will also decrease the complexed protein S and consequently the total protein S level. These findings explained why assays for free protein S have a higher predictive value for protein S deficiency.\n\nSee also autosomal recessive thrombophilia due to protein S deficiency (THPH6; {614514}), which is a more severe disorder.",[612336],[743],[Severe hereditary thrombophilia due to congenital protein S deficiency],[16543],,,,, +GARD:18569,Active,Orphanet+OMIM,OMIM:614514,Subtype of disorder,[Disease subtype],"Thrombophilia due to protein s deficiency, autosomal recessive",,"Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage ({7:Pung-amritt et al., 1999}; {3:Fischer et al., 2010}), whereas others have recurrent thromboses later in childhood ({2:Comp et al., 1984}).\n\nSee also autosomal dominant thrombophilia due to protein S deficiency (THPH5; {612336}), a less severe disorder caused by heterozygous mutation in the PROS1 gene.",[614514],[743],[Severe hereditary thrombophilia due to congenital protein S deficiency],[16543],,,,, +GARD:1857,Legacy,GARD,,,,,,,,,,,,Die Smulders Droog Van Dijk syndrome,TRUE,FALSE,Active +GARD:18570,Active,Orphanet+OMIM,OMIM:604377,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 2","[cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1]","Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see {256000}). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; {253300}). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by {4:Papadopoulou et al., 1999}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[604377],[1561],[Fatal infantile cytochrome C oxidase deficiency],[16569],,,,, +GARD:18571,Active,Orphanet+OMIM,OMIM:615119,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 6","[Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2]","Mitochondrial complex IV deficiency nuclear type 6 (MC4DN6) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Manifestations include hypotonia, feeding difficulties, and global developmental delay. Many, but not all, patients develop hypertrophic cardiomyopathy, which may result in early death. Additional more variable features may include poor overall growth, microcephaly, seizures, neurodegeneration, spasticity, visual defects, retinopathy, and hepatic steatosis. Brain imaging in some patients shows features consistent with Leigh syndrome (see {256000}). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by {4:Kennaway et al., 1990} and {5:Oquendo et al., 2004}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[615119],[1561],[Fatal infantile cytochrome C oxidase deficiency],[16569],,,,, +GARD:18572,Active,Orphanet+OMIM,OMIM:616500,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 9","[Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3]","Mitochondrial complex IV deficiency nuclear type 9 (MC4DN9) is an autosomal recessive multisystem metabolic disorder characterized by neonatal hypertrophic cardiomyopathy resulting in death in early infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Huigsloot et al., 2011}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[616500],[1561],[Fatal infantile cytochrome C oxidase deficiency],[16569],,,,, +GARD:18573,Active,Orphanet+OMIM,OMIM:616501,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 13","[Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4]","Mitochondrial complex IV deficiency nuclear type 13 (MC4DN13) is an autosomal recessive metabolic disorder characterized by the onset of hypertrophic cardiomyopathy soon after birth. Affected individuals have hypotonia, weakness, and failure to thrive, resulting in death in infancy. Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Baertling et al., 2015}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[616501],[1561],[Fatal infantile cytochrome C oxidase deficiency],[16569],,,,, +GARD:18574,Active,Orphanet+OMIM,OMIM:176860,Subtype of disorder,[Disease subtype],"Thrombophilia due to protein c deficiency, autosomal dominant","[proc deficiency, autosomal dominant, Protein c deficiency, autosomal dominant]","Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic ({23:Millar et al., 2000}). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency ({4:Bertina et al., 1984}).\n\nAcquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. {8:Clouse and Comp (1986)} reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.",[176860],[745],[Severe hereditary thrombophilia due to congenital protein C deficiency],[16544],,,,, +GARD:18575,Active,Orphanet+OMIM,OMIM:155601,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 2",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {19:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 ({155600}).",[155601],[618],[Familial melanoma],[3460],,,,, +GARD:18576,Active,Orphanet+OMIM,OMIM:155700,Subtype of disorder,[Disease subtype],"Melanoma, malignant familial intraocular",,"{1:Bowen et al. (1964)} reported malignant intraocular melanoma in a 45-year-old white female and her 26-year-old daughter. {3:Davenport (1927)} reported this malignancy in 3 successive generations. The occurrence of cutaneous melanoma and intraocular melanoma as double primary cancers in the same patient and in different members of the same family has suggested that these 2 forms of melanoma may be etiologically related. From their family studies, {4:Greene et al. (1983)} concluded that these associations may be coincidental.",[155700],[618],[Familial melanoma],[3460],,,,, +GARD:18577,Active,Orphanet+OMIM,OMIM:608035,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 4",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {2:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma (CMM), see {155600}.",[608035],[618],[Familial melanoma],[3460],,,,, +GARD:18578,Active,Orphanet+OMIM,OMIM:609048,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 3",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {2:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of malignant melanoma, see {155600}.",[609048],[618],[Familial melanoma],[3460],,,,, +GARD:18579,Active,Orphanet+OMIM,OMIM:613099,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 5",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {3:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of malignant melanoma, see {155600}.",[613099],[618],[Familial melanoma],[3460],,,,, +GARD:1858,Legacy,GARD,,,,,,,,,,,,Die Smulders Vles Fryns syndrome,TRUE,FALSE,Active +GARD:18580,Active,Orphanet+OMIM,OMIM:613972,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 6",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {1:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma, see {155600}.",[613972],[618],[Familial melanoma],[3460],,,,, +GARD:18581,Active,Orphanet+OMIM,OMIM:615134,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 9",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {1:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of malignant melanoma, see {155600}.",[615134],[618],[Familial melanoma],[3460],,,,, +GARD:18582,Active,Orphanet+OMIM,OMIM:615848,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 10",,,[615848],[618],[Familial melanoma],[3460],,,,, +GARD:18583,Active,Orphanet+OMIM,OMIM:143870,Subtype of disorder,[Disease subtype],"Hypercalciuria, absorptive, 2","[Hypercalciuria, familial idiopathic]",,[143870],[2197],[Idiopathic hypercalciuria],[16587],,,,, +GARD:18584,Active,Orphanet+OMIM,OMIM:607258,Subtype of disorder,[Disease subtype],"Hypercalciuria, absorptive, 1",,"For a phenotypic description and a discussion of genetic heterogeneity of absorptive hypercalciuria, see {143870}.\n\n{2:Imamura et al. (1998)} reported the cases of 2 unrelated girls with multiple malformations, each of whom had an unbalanced translocation chromosome with deletion of the 4q33-qter segment and addition of a segment from another unidentified chromosome. One of the 2 girls had asymptomatic kidney stones. Both had excess urinary calcium excretion, exaggerated excretion on oral calcium load, and reduced but excessive excretion on restricted calcium intake. The urinary calcium excretion of their parents was normal. Both girls were thus diagnosed to have sporadic absorptive hypercalciuria. {2:Imamura et al. (1998)} suggested that the 4q33-qter segment contains the putative gene for absorptive hypercalciuria.\n\n{3:Townes et al. (1979)} recognized deletion of the terminal region of the long arm of chromosome 4 as a distinct syndrome. The syndrome comprises minor facial anomalies, cleft palate, limb and digital abnormalities (especially of the fifth finger), congenital heart defects, postnatal growth deficiency, and developmental delay. {1:Giuffre et al. (2004)} described a newborn girl with a de novo terminal 4q deletion (4q31.3-qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal growth deficiency. Excessive urinary calcium excretion on standard milk formula and on oral calcium load was found. At 2 months of age, ultrasound showed kidney calcifications. Clinical and laboratory data supported the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium-sensing receptors in the renal tubules. The findings supported the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of 4q.",[607258],[2197],[Idiopathic hypercalciuria],[16587],,,,, +GARD:18585,Active,Orphanet+OMIM,OMIM:615237,Subtype of disorder,[Morphological anomaly subtype],Congenital short bowel syndrome,,"Infants with congenital short bowel syndrome (CSBS) are born with a shortened small intestine, with a mean length of 50 cm compared to the normal length of 190 to 280 cm, and intestinal malrotation. Severe malnutrition develops as a result of the hugely reduced absorptive surface of the small intestine, and infants require parenteral nutrition for survival; however, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life (summary by {8:van der Werf et al., 2012}).\n\nA possible form of congenital short bowel syndrome (see {300048}) is caused by mutation in the FLNA gene ({300017}) on chromosome Xq28.",[615237],[2301],[Congenital short bowel syndrome],[16592],,,,, +GARD:18586,Active,Orphanet+OMIM,OMIM:164750,Subtype of disorder,[Morphological anomaly subtype],"Omphalocele, autosomal",,"An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis ({230750}), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by {1:Bugge, 2010}). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, {13:Yang et al. (1992)} concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects.\n\nOmphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome ({130650}) and the Shprintzen-Goldberg syndrome ({182210}).",[164750],[660],[Omphalocele],[16540],,,,, +GARD:18587,Active,Orphanet+OMIM,OMIM:310980,Subtype of disorder,[Morphological anomaly subtype],"Omphalocele, x-linked",,,[310980],[660],[Omphalocele],[16540],,,,, +GARD:18588,Active,Orphanet+OMIM,OMIM:617524,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 2,,"Erythrokeratodermia variabilis et progressiva-2 is a genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location. The severity and dominating features of the disease vary strikingly within families and also during an individual's course of disease. The erythematous component usually prevails in young children, whereas hyperkeratosis is the dominant or sole feature in adults. Some patients with EKVP2 display lesions resembling erythema gyratum repens (summary by {4:Richard et al., 2003}). EKVP was previously thought to be separate disorders: erythrokeratodermia variabilis (EKV) and progressive symmetric erythrokeratodermia (PSEK) ({5:van Steensel et al., 2009}).\n\nFor a discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[617524],[317],[Erythrokeratodermia variabilis],[16528],,,,, +GARD:18589,Active,Orphanet+OMIM,OMIM:617525,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 3,,"Erythrokeratodermia variabilis et progressiva is a rare skin disease. Patients with EKVP3 have normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema (summary by {1:Boyden et al., 2015}).\n\nFor a discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[617525],[317],[Erythrokeratodermia variabilis],[16528],,,,, +GARD:1859,Active,Orphanet,ORPHA:1916,Disorder,[Malformation syndrome],Diethylstilbestrol syndrome,"[DES embryofetopathy, DES syndrome, Diethylstilbestrol embryofetopathy, Distilbene embryofetopathy]","A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.",,,,,,Diethylstilbestrol syndrome,TRUE,FALSE,Active +GARD:18590,Active,Orphanet+OMIM,OMIM:617526,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 4,,"Erythrokeratodermia variabilis et progressiva-4 is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet (summary by {1:Boyden et al., 2017}).\n\nFor a discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[617526],[317],[Erythrokeratodermia variabilis],[16528],,,,, +GARD:18591,Active,Orphanet+OMIM,OMIM:129490,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant","[Ectodermal dysplasia, hypohidrotic, autosomal dominant]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {2:Cluzeau et al., 2011}).",[129490],[1810],[Autosomal dominant hypohidrotic ectodermal dysplasia],[2048],,,,, +GARD:18592,Active,Orphanet+OMIM,OMIM:614940,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant","[Ectodermal dysplasia, hypohidrotic, autosomal dominant]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {3:Cluzeau et al., 2011}).",[614940],[1810],[Autosomal dominant hypohidrotic ectodermal dysplasia],[2048],,,,, +GARD:18593,Active,Orphanet+OMIM,OMIM:617337,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {1:Cluzeau et al., 2011}).",[617337],[1810],[Autosomal dominant hypohidrotic ectodermal dysplasia],[2048],,,,, +GARD:18594,Active,Orphanet+OMIM,OMIM:181000,Subtype of disorder,[Disease subtype],"Sarcoidosis, susceptibility to, 1","[boeck sarcoid, Sarcoidosis]",,[181000],[797],[Sarcoidosis],[7607],,,,, +GARD:18595,Active,Orphanet+OMIM,OMIM:612387,Subtype of disorder,[Disease subtype],"Sarcoidosis, susceptibility to, 2",,,[612387],[797],[Sarcoidosis],[7607],,,,, +GARD:18596,Active,Orphanet+OMIM,OMIM:612388,Subtype of disorder,[Disease subtype],"Sarcoidosis, susceptibility to, 3",,"For a general description and a discussion of genetic heterogeneity of sarcoidosis, see {181000}.",[612388],[797],[Sarcoidosis],[7607],,,,, +GARD:18597,Active,Orphanet+OMIM,OMIM:173900,Subtype of disorder,[Disease subtype],Polycystic kidney disease 1 with or without polycystic liver disease,"[potter type iii polycystic kidney disease, formerly, polycystic kidney disease, adult, type i, Polycystic kidney disease, adult]","PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by {114:Wu and Somlo, 2000}).\n\n<Subhead> Genetic Heterogeneity of Polycystic Kidney Disease\n\nAlso see polycystic kidney disease-2 (PKD2; {613095}), caused by mutation in the PKD2 gene ({173910}) on chromosome 4q22; PKD3 ({600666}), caused by mutation in the GANAB gene ({104160}) on chromosome 11q13; PKD4 ({263200}), caused by mutation in the PKHD1 gene ({606702}) on chromosome 6p12; PKD5 ({617610}), caused by mutation in the DZIP1L gene ({617570}) on chromosome 3q22; and PKD6 ({618061}), caused by mutation in the DNAJB11 gene ({611341}) on chromosome 3q27.",[173900],[730],[Autosomal dominant polycystic kidney disease],[10413],,,,, +GARD:18598,Active,Orphanet+OMIM,OMIM:600666,Subtype of disorder,[Disease subtype],Polycystic kidney disease 3 with or without polycystic liver disease,"[Polycystic kidney disease, adult, type iii]","Polycystic kidney disease-3, a form of autosomal dominant PKD (ADPKD), is characterized by renal cysts, often associated with liver cysts, that may lead to organ dysfunction. Affected individuals usually present in mid to late adulthood with progressive cysts in the kidney and/or liver. The renal disease is relatively mild, and only some patients develop hypertension; renal insufficiency usually does not occur. The liver disease shows a wide spectrum of severity: some patients have no cysts, whereas others have severe liver involvement (summary by {2:Porath et al., 2016}).\n\nFor a discussion of genetic heterogeneity of PKD, see PKD1 ({173900}).",[600666],[730],[Autosomal dominant polycystic kidney disease],[10413],,,,, +GARD:18599,Active,Orphanet+OMIM,OMIM:613095,Subtype of disorder,[Disease subtype],Polycystic kidney disease 2 with or without polycystic liver disease,"[Polycystic kidney disease, adult, type ii]",,[613095],[730],[Autosomal dominant polycystic kidney disease],[10413],,,,, +GARD:18600,Active,Orphanet+OMIM,OMIM:614839,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 10 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614839],[432],[Normosmic congenital hypogonadotropic hypogonadism],[16533],,,,, +GARD:18601,Active,Orphanet+OMIM,OMIM:614842,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 13 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {1:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614842],[432],[Normosmic congenital hypogonadotropic hypogonadism],[16533],,,,, +GARD:18602,Active,Orphanet+OMIM,OMIM:125700,Subtype of disorder,[Clinical subtype],"Diabetes insipidus, neurohypophyseal","[diabetes insipidus, cranial type, Diabetes insipidus, primary central]","Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood (summary by {28:Wahlstrom et al., 2004}).",[125700],[30925],[Hereditary central diabetes insipidus],[16629],,,,, +GARD:18603,Active,Orphanet+OMIM,OMIM:304900,Subtype of disorder,[Clinical subtype],"Diabetes insipidus, neurohypophyseal, x-linked",,,[304900],[30925],[Hereditary central diabetes insipidus],[16629],,,,, +GARD:18604,Active,Orphanet+OMIM,OMIM:300557,Subtype of disorder,[Disease subtype],Parkinson disease 12,,"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.",[300557],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18605,Active,Orphanet+OMIM,OMIM:605909,Subtype of disorder,[Disease subtype],"Parkinson disease 6, autosomal recessive early-onset","[Parkinson disease 6, early-onset]",,[605909],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18606,Active,Orphanet+OMIM,OMIM:606324,Subtype of disorder,[Disease subtype],"Parkinson disease 7, autosomal recessive early-onset",,,[606324],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18607,Active,Orphanet+OMIM,OMIM:606852,Subtype of disorder,[Disease subtype],Parkinson disease 10,,"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.",[606852],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18608,Active,Orphanet+OMIM,OMIM:610297,Subtype of disorder,[Disease subtype],"Parkinson disease 13, autosomal dominant, susceptibility to",,,[610297],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18609,Active,Orphanet+OMIM,OMIM:613643,Subtype of disorder,[Disease subtype],"Parkinson disease 5, autosomal dominant, susceptibility to",,,[613643],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:1861,Active,Orphanet,ORPHA:2123,Disorder,[Malformation syndrome],Diffuse neonatal hemangiomatosis,,"Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.",,,,,,Diffuse neonatal hemangiomatosis,TRUE,FALSE,Active +GARD:18610,Active,Orphanet+OMIM,OMIM:616840,Subtype of disorder,[Disease subtype],"Parkinson disease 23, autosomal recessive early-onset",,"Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by {1:Lesage et al., 2016}).",[616840],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18611,Active,Orphanet+OMIM,OMIM:108770,Subtype of disorder,[Disease subtype],Atrial standstill 1,"[Atrial cardiomyopathy with heart block, cardiomyopathy, familial, with conduction disturbance]","Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by {3:Fazelifar et al., 2005}).",[108770],[1344],[Atrial standstill],[16564],,,,, +GARD:18612,Active,Orphanet+OMIM,OMIM:615745,Subtype of disorder,[Disease subtype],Atrial standstill 2,"[Atrial dilation and standstill, cardiomyopathy, atrial dilated, with atrial standstill]","Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by {3:Fazelifar et al., 2005}).",[615745],[1344],[Atrial standstill],[16564],,,,, +GARD:18613,Active,Orphanet+OMIM,OMIM:602247,Subtype of disorder,[Disease subtype],"Xanthomatosis, susceptibility to",,"{1:Vergopoulos et al. (1997)} studied a consanguineous Syrian kindred containing 6 individuals homozygous for a cys646-to-arg mutation in the LDLR gene ({606945}) resulting in familial hypercholesterolemia ({143890}). Half of the homozygotes had giant xanthomas, while half did not, even though their LDL-cholesterol concentrations were elevated to similar degrees. Heterozygous FH individuals in this family were also clearly distinguishable with respect to xanthoma size. Segregation analysis suggested the existence in this family of a second gene that determined the development of giant xanthomas when present in combination with the cys646-to-arg mutation.",[602247],[391665],[Homozygous familial hypercholesterolemia],[10416],,,,, +GARD:18614,Active,Orphanet+OMIM,OMIM:603813,Subtype of disorder,[Disease subtype],"Hypercholesterolemia, familial, 4","[fhcb1, formerly, hypercholesterolemia, autosomal recessive, 2, formerly, hypercholesterolemia, autosomal recessive, 1, formerly, fhcb2, formerly, Hypercholesterolemia, autosomal recessive]","Autosomal recessive familial hypercholesterolemia-4 (FCHL4) is a rare monogenic disease characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease (summary by {14:Sanchez-Hernandez et al., 2018}).",[603813],[391665],[Homozygous familial hypercholesterolemia],[10416],,,,, +GARD:18615,Active,Orphanet,ORPHA:300751,Disorder,[Disease],Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,,"A rare familial cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy.",[115200],,,,,,,, +GARD:18616,Active,Orphanet+OMIM,OMIM:159900,Subtype of disorder,[Disease subtype],"Dystonia 11, myoclonic","[myoclonus, hereditary essential, Myoclonus-dystonia syndrome, myoclonic dystonia, dystonia, alcohol-responsive]","Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal muscles. Dystonia, usually torticollis or writer's cramp, is observed in most patients, but occasionally can be the only symptom of the disorder. Onset of the disorder is usually in the first or second decade. Symptoms often respond to alcohol, and patients may also have psychiatric abnormalities ({42:Valente et al., 2003}; {38:Schule et al., 2004}).",[159900],[36899],[Myoclonus-dystonia syndrome],[7139],,,,, +GARD:18617,Active,Orphanet+OMIM,OMIM:300672,Subtype of disorder,"[Clinical syndrome subtype, Disease subtype]",Developmental and epileptic encephalopathy 2,"[infantile spasm syndrome, x-linked 2, Epileptic encephalopathy, early infantile, 2]","Developmental and epileptic encephalopathy-2 (DEE2) is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in impaired intellectual development and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome ({312750}), but DEE2 is considered to be a distinct entity (summary by {4:Fehr et al., 2013}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[300672],"[1934, 3095, 3451]","[Early infantile epileptic encephalopathy, Infantile spasms syndrome, Atypical Rett syndrome]","[7887, 9255, 4694]",,,,, +GARD:18619,Active,Orphanet+OMIM,OMIM:606070,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 21,"[Multisystem proteinopathy 5, vocal cord and pharyngeal dysfunction with distal myopathy, formerly, myopathy, distal, 2, formerly]","Amyotrophic lateral sclerosis-21 (ALS21) is an autosomal dominant neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia (summary by {2:Johnson et al., 2014}).\n\nFor a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400}).",[606070],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:1862,Active,Orphanet,ORPHA:2337,Disorder,[Disease],Non-epidermolytic palmoplantar keratoderma,"[Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type, Diffuse palmoplantar keratoderma, Bothnian type, NEPPK]","A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by diffuse, homogeneous, mild to thick, yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers), which presents a white spongy appearance following exposure to water, frequently associated with dermatophyte infections. Hyperhydrosis is usually present and skin biopsy shows non-epidermolytic changes.",[600231],,,,,"Diffuse palmoplantar keratoderma, Bothnian type",TRUE,FALSE,Active +GARD:18620,Active,Orphanet+OMIM,OMIM:610489,Subtype of disorder,[Disease subtype],"Pigmented nodular adrenocortical disease, primary, 1","[cushing syndrome, adrenal, due to ppnad1, adrenocortical nodular dysplasia, primary, Pigmented micronodular adrenocortical disease, primary, 1]","Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1; {160980}), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation ({3:Groussin et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical Disease\n\nSee also PPNAD2 ({610475}), caused by mutation in the PDE11A gene ({604961}) on chromosome 2q31; PPNAD3 ({614190}), caused by mutation in the PDE8B gene ({603390}) on chromosome 5q13; and PPNAD4 ({615830}), caused by a duplication on chromosome 19p13 that includes the PRKACA gene ({601639}).",[610489],[189439],[Primary pigmented nodular adrenocortical disease],[10906],,,,, +GARD:18621,Active,Orphanet+OMIM,OMIM:615878,Subtype of disorder,[Clinical subtype],"Cholestasis, progressive familial intrahepatic, 4",,,[615878],[79304],[Progressive familial intrahepatic cholestasis type 2],[1288],,,,, +GARD:18622,Active,Orphanet+OMIM,OMIM:616266,Subtype of disorder,[Malformation syndrome subtype],"Congenital contractures of the limbs and face, hypotonia, and developmental delay",,"CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by {1:Chong et al., 2015}).",[616266],"[2053, 1147]","[Freeman-Sheldon syndrome, Sheldon-Hall syndrome]","[16556, 6466]",,,,, +GARD:18623,Active,Orphanet+OMIM,OMIM:156200,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 1","[Mental retardation, autosomal dominant 1]",,[156200],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:18624,Active,Orphanet+OMIM,OMIM:614381,Subtype of disorder,[Clinical subtype],"Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism","[cerebellar hypoplasia with endosteal sclerosis, 4h leukodystrophy 2]","Hypomyelinating leukodystrophy-8 (HLD8) is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by {9:Tetreault et al., 2011}).\n\nSee also HLD7 ({607694}), which has similar features and is caused by mutation in the POLR3A gene ({614258}) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.",[614381],[88637],[Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome],[16771],,,,, +GARD:18625,Active,Orphanet+OMIM,OMIM:600165,Subtype of disorder,[Malformation syndrome subtype],Nanophthalmos 1,,"Autosomal dominant nanophthalmos is characterized by a small eye, as indicated by short axial length, high hyperopia, high lens/eye volume ratio, and a high incidence of angle-closure glaucoma (summary by {3:Othman et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Nanophthalmos\n\nNanophthalmos-1 (NNO1) has been mapped to chromosome 11p. Nanophthalmos-2 (NNO2; {609549}) is caused by mutation in the MFRP gene ({606227}) on chromosome 11q23. Nanophthalmos-3 (NNO3; {611897}) has been mapped to chromosome 2q11-q14. Nanophthalmos-4 (NNO4; {615972}) is caused by mutation in the TMEM98 gene ({615949}) on chromosome 17q11.",[600165],[35612],[Nanophthalmos],[16637],,,,, +GARD:18626,Active,Orphanet+OMIM,OMIM:609549,Subtype of disorder,[Malformation syndrome subtype],Nanophthalmos 2,"[Nanophthalmia 2, nanophthalmos, autosomal recessive]",,[609549],[35612],[Nanophthalmos],[16637],,,,, +GARD:18627,Active,Orphanet+OMIM,OMIM:611897,Subtype of disorder,[Malformation syndrome subtype],Nanophthalmos 3,,"For a general phenotypic description and a discussion of genetic heterogeneity of nanophthalmos, see NNO1 ({600165}).",[611897],[35612],[Nanophthalmos],[16637],,,,, +GARD:18628,Active,Orphanet+OMIM,OMIM:613517,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated 6","[Microphthalmia, posterior nonsyndromic]","Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by {5:Gal et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 ({251600}).",[613517],[35612],[Nanophthalmos],[16637],,,,, +GARD:18629,Active,Orphanet+OMIM,OMIM:615972,Subtype of disorder,[Malformation syndrome subtype],Nanophthalmos 4,[Nanophthalmia 4],"Nanophthalmos is characterized by axial lengths of the ocular globe that are more than 2 SDs smaller than the normal range, or less than 20 mm in adults, with a cornea and lens that are typically of normal size, associated with severe hyperopia (farsightedness) of +7.00 diopters or more. The smaller dimensions of the anterior chamber depth cause the iridocorneal angle to be typically narrow. Abnormal thickening of the scleral connective tissue is often observed (summary by {1:Awadalla et al., 2014}).\n\nFor a discussion of genetic heterogeneity of nanophthalmos, see NNO1 ({600165}).",[615972],[35612],[Nanophthalmos],[16637],,,,, +GARD:1863,Legacy,GARD,,,,,,,,,,,,Gastric duplication cysts,TRUE,FALSE,Active +GARD:18630,Active,Orphanet+OMIM,OMIM:227300,Subtype of disorder,[Disease subtype],"Factor v and factor viii, combined deficiency of, 1","[fmfd i, Familial multiple coagulation factor deficiency i, multiple coagulation factor deficiency i]","Combined deficiency of factor V ({612309}) and factor VIII ({300841}) is characterized by bleeding symptoms similar to those in hemophilia ({306700}) or parahemophilia ({227400}), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by {17:Zhang and Ginsburg, 2004}).\n\n<Subhead> Genetic Heterogeneity of Combined Deficiency of Factor V and Factor VIII\n\nAnother form of combined deficiency of factor V and factor VII (F5F8D2; {613625}) is caused by mutation in the MCFD2 gene ({607788}) on chromosome 2.",[227300],[35909],[Combined deficiency of factor V and factor VIII],[16639],,,,, +GARD:18631,Active,Orphanet+OMIM,OMIM:227310,Subtype of disorder,[Disease subtype],"Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor",,"{1:Rahim Adam et al. (1985)} reported a hemorrhagic diathesis due to combined deficiency of factors V and VIII in a Syrian brother and sister. Unlike reported cases, no abnormality of protein C ({612283}) or its inhibitor was found. Both parents and 1 of 3 clinically normal sibs had levels of factors V and VIII greater than 10% but less than 50% of normal.",[227310],[35909],[Combined deficiency of factor V and factor VIII],[16639],,,,, +GARD:18632,Active,Orphanet+OMIM,OMIM:613625,Subtype of disorder,[Disease subtype],"Factor v and factor viii, combined deficiency of, 2",,"Combined deficiency of factor V ({612309}) and factor VIII ({300841}) is characterized by bleeding symptoms similar to those in hemophilia ({306700}) or parahemophilia ({227400}), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by {3:Zhang and Ginsburg, 2004}).",[613625],[35909],[Combined deficiency of factor V and factor VIII],[16639],,,,, +GARD:18633,Active,Orphanet+OMIM,OMIM:609620,Subtype of disorder,[Disease subtype],Short qt syndrome 1,,"Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by {7:Moreno et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Short QT Syndrome\n\nShort QT syndrome-2 (SQT2; {609621}) is caused by mutation in the KCNQ1 gene ({607542}). SQT3 ({609622}) is caused by mutation in the KCNJ2 gene ({600681}).",[609620],[51083],[Familial short QT syndrome],[16650],,,,, +GARD:18634,Active,Orphanet+OMIM,OMIM:609621,Subtype of disorder,[Disease subtype],Short qt syndrome 2,,"Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by {3:Moreno et al., 2015}).\n\nFor a discussion of genetic heterogeneity of short QT syndrome, see SQT1 ({609620}).",[609621],[51083],[Familial short QT syndrome],[16650],,,,, +GARD:18635,Active,Orphanet+OMIM,OMIM:609622,Subtype of disorder,[Disease subtype],Short qt syndrome 3,,"Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by {1:Moreno et al., 2015}).\n\nFor a discussion of genetic heterogeneity of short QT syndrome, see SQT1 ({609620}).",[609622],[51083],[Familial short QT syndrome],[16650],,,,, +GARD:18636,Active,Orphanet+OMIM,OMIM:264700,Subtype of disorder,[Disease subtype],"Vitamin d hydroxylation-deficient rickets, type 1a","[1-alpha, 25-hydroxyvitamin d3 deficiency, selective, pseudovitamin d-deficiency rickets, type ia, 25-hydroxycholecalciferol-1-hydroxylase deficiency, 1-alpha-hydroxylase deficiency, vitamin d dependency, type 1, Vitamin d-dependent rickets, type 1a, pddr ia]","Vitamin D3 (cholecalciferol), synthesized in the epidermis in response to UV radiation, and dietary vitamin D2 (ergocalciferol, synthesized in plants) are devoid of any biologic activity. Vitamin D hormonal activity is due primarily to the hydroxylated metabolite of vitamin D3, 1-alpha,25-dihydroxyvitamin D3 (calcitriol), the actions of which are mediated by the vitamin D receptor (VDR; {601769}) ({11:Koren, 2006}; {17:Liberman and Marx, 2001}).\n\nIn the liver, vitamin D 25-hydroxylase (CYP2R1; {608713}) catalyzes the initial hydroxylation of vitamin D at carbon 25; in the kidney, 1-alpha-hydroxylase (CYP27B1; {609506}) catalyzes the hydroxylation and metabolic activation of 25-hydroxyvitamin D3 into 1,25-dihydroxyvitamin D3. The active metabolite 1,25(OH)2D3 binds and activates the nuclear vitamin D receptor, with subsequent regulation of physiologic events such as calcium homeostasis and cellular differentiation and proliferation ({25:Takeyama et al., 1997}).\n\nDisorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia ({17:Liberman and Marx, 2001}).\n\n<Subhead> Genetic Heterogeneity of Vitamin D-Dependent Rickets\n\nVitamin D-dependent rickets type 1A (VDDR1A) is due to an enzymatic defect in synthesis of the active form of vitamin D caused by mutation in the CYP27B1 gene. VDDR1B ({600081}) is a form of rickets due to mutation in the gene encoding a vitamin D 25-hydroxylase (CYP2R1; {608713}), another enzyme necessary for the synthesis of active vitamin D. Vitamin D-dependent rickets type 2A (VDDR2A; {277440}) is caused by end-organ unresponsiveness of active vitamin D due to mutation in the gene encoding the vitamin D receptor (VDR; {601769}). VDDR2B ({600785}) is an unusual form of end-organ unresponsiveness to active vitamin D due to an abnormal protein (see HNRNPC, {164020}) that interferes with the function of the VDR. VDDR3 ({619073}) is a dominant form of VDDR caused by accelerated inactivation of vitamin D metabolites due to mutation in the CYP3A4 gene ({124010}).\n\n<Subhead> Other Forms of Hypophosphatemic Rickets\n\nFor a discussion of other forms of hypophosphatemic rickets, see ADHR ({193100}).",[264700],[289157],[Hypocalcemic vitamin D-dependent rickets],[17319],,,,, +GARD:18637,Active,Orphanet+OMIM,OMIM:105250,Subtype of disorder,[Disease subtype],"Amyloidosis, primary localized cutaneous, 1","[Amyloidosis, primary cutaneous, 1, amyloidosis, familial cutaneous lichen, pca, lichen amyloidosis, familial, amyloidosis ix]","Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by {16:Tanaka et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Primary Localized Cutaneous Amyloidosis\n\nPrimary localized cutaneous amyloidosis-2 (PLCA2; {613955}) is caused by heterozygous mutation in the IL31RA gene ({609510}) on chromosome 5q11. Primary localized cutaneous amyloidosis-3 (PLCA3; {617920}) is caused by mutation in the GPNMB gene ({604368}) on chromosome 7p15.",[105250],[353220],[Familial primary localized cutaneous amyloidosis],[17533],,,,, +GARD:18638,Active,Orphanet+OMIM,OMIM:613955,Subtype of disorder,[Disease subtype],"Amyloidosis, primary localized cutaneous, 2",,"Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by {2:Tanaka et al., 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of PLCA, see {105250}.",[613955],[353220],[Familial primary localized cutaneous amyloidosis],[17533],,,,, +GARD:18639,Active,Orphanet,ORPHA:316,Disorder,[Disease],Progressive symmetric erythrokeratodermia,"[Darier-Gottron disease, Erythrokeratodermia progressiva symmetrica, Progressive symmetric erythrokeratodermia, Gottron type]",,"[617756, 619209, 618531]",,,,,,,, +GARD:1864,Legacy,GARD,,,,,,,,,,,,Digitorenocerebral syndrome,TRUE,FALSE,Retired +GARD:18640,Active,Orphanet,ORPHA:777,Subtype of disorder,[Etiological subtype],X-linked non-syndromic intellectual disability,,,"[300919, 300716, 300433, 300210, 300558, 300355, 300436, 300428, 300705, 300046, 300271, 300983, 300047, 301013, 300454, 300505, 309549, 300984, 300802, 300324, 300498, 300803, 309530, 300143, 300978, 300419, 300928, 300115, 300848, 300849, 300850, 300372, 300851, 300852, 300844, 300518, 300387, 300062]",,,,,,,, +GARD:18641,Active,Orphanet,ORPHA:36387,Disorder,[Disease],Generalized epilepsy with febrile seizures-plus,"[GEFS+, Genetic epilepsy with febrile seizures-plus]",Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).,"[618482, 604403, 604233, 613060, 613863, 616172, 613828, 612279, 609800]",,,,,,,, +GARD:18642,Active,Orphanet,ORPHA:46532,Disorder,[Disease],Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,[HPFH-beta-thalassemia syndrome],Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.,"[141749, 305435, 142335, 613566, 142470]",,,,,,,, +GARD:18643,Active,Orphanet,ORPHA:88616,Subtype of disorder,[Etiological subtype],Autosomal recessive non-syndromic intellectual disability,"[AR-NSID, NS-ARID]",,"[616739, 614329, 617125, 611093, 614208, 615979, 613192, 618687, 616887, 614333, 614202, 616460, 614020, 618109, 249500, 617188, 614249, 615817, 614343, 611107, 608443, 614344, 618402, 618221, 614345, 615942, 616116, 614346, 614499, 617816, 614347, 611095, 614340, 611096, 614341, 617709, 616193, 614342, 611097, 617028, 607417, 611090, 611091, 615802, 611092]",,,,,,,, +GARD:18644,Active,Orphanet,ORPHA:90636,Subtype of disorder,[Etiological subtype],Autosomal recessive non-syndromic sensorineural deafness type DFNB,"[Autosomal recessive isolated neurosensory deafness type DFNB, Autosomal recessive isolated neurosensory hearing loss type DFNB, Autosomal recessive isolated sensorineural deafness type DFNB, Autosomal recessive isolated sensorineural hearing loss type DFNB, Autosomal recessive non-syndromic neurosensory deafness type DFNB, Autosomal recessive non-syndromic neurosensory hearing loss type DFNB, Autosomal recessive non-syndromic sensorineural hearing loss type DFNB]",,"[617654, 616515, 608653, 600791, 602092, 609823, 609946, 600974, 618410, 600060, 619093, 619174, 604060, 608264, 618456, 615974, 601072, 610248, 603098, 605428, 603629, 618481, 612645, 613865, 610265, 613307, 616705, 610419, 613453, 615429, 607821, 605818, 614617, 615837, 614944, 610153, 612433, 612789, 600971, 607084, 609647, 600792, 614861, 609439, 608219, 607101, 614934, 610143, 618434, 609941, 601071, 609006, 608265, 613391, 603678, 613718, 615540, 613079, 610220, 610212, 220290, 618257, 608565, 616042, 617639, 613916, 613285, 601386, 609706, 609533, 613685, 607239, 611022, 614899, 614035, 611451, 601869, 603720, 618145, 617637, 603010, 600316, 614414, 607039, 618422, 614945, 610154, 609646, 609952, 613392]",,,,,,,, +GARD:18645,Active,Orphanet,ORPHA:93592,Subtype of disorder,[Clinical subtype],Juvenile nephronophthisis,,,"[615382, 256100]",,,,,,,, +GARD:18646,Active,Orphanet,ORPHA:137634,Disorder,[Malformation syndrome],Overgrowth-macrocephaly-facial dysmorphism syndrome,,"A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.",[613675],,,,,,,, +GARD:18647,Active,Orphanet,ORPHA:168615,Disorder,[Biological anomaly],Hereditary persistence of alpha-fetoprotein,,"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy",[615970],,,,,,,, +GARD:18648,Active,Orphanet,ORPHA:251380,Disorder,[Disease],Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,[HPFH-sickle cell disease syndrome],"A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.","[141749, 305435, 142335, 613566, 142470]",,,,,,,, +GARD:18649,Active,Orphanet,ORPHA:254913,Disorder,[Disease],Isolated ATP synthase deficiency,[Isolated mitochondrial respiratory chain complex V deficiency],"Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).","[604273, 618120, 615228, 618683, 614053]",,,,,,,, +GARD:18650,Active,Orphanet,ORPHA:280654,Disorder,[Disease],Autosomal recessive nail dysplasia,,"Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.",[161050],,,,,,,, +GARD:18651,Active,Orphanet,ORPHA:363989,Disorder,[Disease],Familial benign flecked retina,,"Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.",[228980],,,,,,,, +GARD:18652,Active,Orphanet,ORPHA:440713,Disorder,[Disease],Isolated sedoheptulokinase deficiency,[Isolated SHPK deficiency],"A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythritol, and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear.",[617213],,,,,,,, +GARD:18653,Active,Orphanet,ORPHA:443950,Disorder,[Disease],DNAJB2-related Charcot-Marie-Tooth disease type 2,[DNAJB2-related CMT2],"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation.",[614881],,,,,,,, +GARD:18654,Active,Orphanet,ORPHA:444069,Disorder,[Malformation syndrome],Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,,"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth).",[243605],,,,,,,, +GARD:18655,Active,Orphanet,ORPHA:572773,Subtype of disorder,[Clinical subtype],Microcephaly-short stature-limb abnormalities syndrome,[MISSLA],,,,,,,,,, +GARD:18656,Active,Orphanet+OMIM,OMIM:141749,Subtype of disorder,[Disease subtype],Fetal hemoglobin quantitative trait locus 1,"[hereditary persistence of fetal hemoglobin, hb gene cluster-related, Hemoglobin f, hereditary persistence of]","Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations. Expression of the HBG1 and HBG2 genes, which encode the gamma isoforms of HbF, is normally suppressed shortly before birth and replaced by expression of the beta- (HBB; {141900}) or delta- (HBD; {142000}) chains, which form adult hemoglobin. Adults normally have less than 1% HbF, whereas heterozygotes for HPFH have 5 to 30% HbF. HPFH heterozygotes have essentially normal red cell indices and a rather homogeneous distribution of HbF among red cells, termed 'pancellular.' Homozygotes for HPFH can express HbF in up to 100% of red blood cells ({56:Thein and Craig, 1998}).\n\nDelta-beta thalassemia is a hemoglobin disorder characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis from the affected chromosome. Individuals with delta-beta thalassemia have hypochromic, microcytic anemia and increased HbF, which may mitigate the anemia depending on the level of HbF. Delta-beta thalassemia and some forms of HPFH result from deletions within the beta-globin gene cluster on chromosome 11p15; this has been referred to as 'deletional' HPFH. HPFH can also result from point mutations in the promoter regions of the gamma globulin genes HBG1 and HBG2; this has been referred to as 'non-deletional' HPFH ({47:Ottolenghi et al., 1982}; {23:Forget, 1998}).\n\n{23:Forget (1998)} noted that HPFH and delta-beta thalassemia are not clearly distinct disorders, but rather show partially overlapping features that may defy classification. Higher expression of HbF is often termed 'pancellular,' whereas lower expression of HbF is often termed 'heterocellular,' although these represent a spectrum.\n\nApproximately 10% of the population has HPFH manifest as modest elevations of HbF (1 to 4%) present in a subset of red cells (about 4.5%) termed F cells. This is also sometimes referred to as 'heterocellular' HPFH, and is considered to be a multifactorial trait influenced by multiple genetic loci ({56:Thein and Craig, 1998}).",[141749],"[251380, 46532]","[Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome]","[18648, 18642]",,,,, +GARD:18657,Active,Orphanet+OMIM,OMIM:142470,Subtype of disorder,[Disease subtype],Fetal hemoglobin quantitative trait locus 2,,"Fetal hemoglobin (HbF) levels vary considerably in healthy normal adults. The distribution of HbF and F cells, erythrocytes that contain measurable HbF, in healthy adults is continuous, although most adults have HbF of less than 0.6% of total Hb. Approximately 10 to 15% of individuals have increases of HbF ranging from 0.8% to 5%, a trait often referred to as hereditary persistence of fetal hemoglobin (HPFH), usually distributed unevenly among red cells. When coinherited with beta-thalassemia (see {613985}) or sickle cell anemia ({603903}), HPFH can increase HbF output to levels that are clinically beneficial ({8:Thein et al., 2007}).\n\nFor a general phenotypic description and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 ({141749}).",[142470],"[251380, 46532]","[Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome]","[18648, 18642]",,,,, +GARD:18658,Active,Orphanet+OMIM,OMIM:305435,Subtype of disorder,[Disease subtype],Fetal hemoglobin quantitative trait locus 3,,"For a general phenotypic description and a discussion of loci that may affect fetal hemoglobin production, see HBFQTL1 ({141749}).",[305435],"[251380, 46532]","[Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome]","[18648, 18642]",,,,, +GARD:18659,Active,Orphanet+OMIM,OMIM:604233,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 1","[Gefs+, type 1]","Generalized epilepsy with febrile seizures plus type 1 (GEFSP1) is an autosomal dominant neurologic disorder characterized by onset of seizures associated with fever in infancy or early childhood. There is wide phenotypic variability, even within families. In contrast to classic febrile seizures (see, e.g., FEB1, {121210}), which affect approximately 3% of children under 6 years of age and typically spontaneously remit by age 6 years, patients with GEFSP1 either have febrile seizures extending beyond age 6 years or develop epilepsy with afebrile seizures. Other seizure types include absence seizures, partial seizures, myoclonic seizures, and atonic seizures. Some patients may have developmental delay after the onset of seizures (summary by {6:Wallace et al., 1998} and {4:Singh et al., 1999}).\n\n{2:Deprez et al. (2009)} reviewed the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.\n\n<Subhead> Genetic Heterogeneity of GEFS+\n\nGEFS+ is a genetically heterogeneous disorder. See also GEFS+2 ({604403}), caused by mutation in the SCN1A gene ({182389}) on chromosome 2q24; GEFS+3 (see {607681}), caused by mutation in the GABRG2 gene ({137164}) on chromosome 5q34; GEFS+5 ({613060}), associated with variation in the GABRD ({137163}) gene on chromosome 1p36; GEFS+9 ({616172}), caused by mutation in the STX1B gene ({601485}) on chromosome 16p11; GEFS+10 ({618482}), caused by mutation in the HCN1 gene ({602780}) on chromosome 5p12; and GEFS+11 ({602477}), caused by mutation in the HCN2 gene ({602781}) on chromosome 19p13.\n\nSeveral putative loci have also been identified; see GEFS+4 ({609800}), mapped to chromosome 2p24; GEFS+6 ({612279}), mapped to chromosome 8p23-p21; GEFS+7 ({613863}), mapped to chromosome 2q24; and GEFS+8 ({613828}), mapped to chromosome 6q16.3-q22.31.",[604233],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18660,Active,Orphanet+OMIM,OMIM:604273,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 1","[Mitochondrial complex v (atp synthase) deficiency, atpaf2 type]","A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by {3:Mayr et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex V Deficiency\n\nOther nuclear types of mitochondrial complex V deficiency include MC5DN2 ({614052}), caused by mutation in the TMEM70 gene ({612418}) on chromosome 8q21; MC5DN3 ({614053}), caused by mutation in the ATP5E gene (ATP5F1E; {606153}) on chromosome 20q13; MC5DN4 ({615228}), caused by mutation in the ATP5A1 gene (ATP5F1A; {164360}) on chromosome 18q; MC5DN5 ({618120}), caused by mutation in the ATP5D gene (ATP5F1D; {603150}) on chromosome 19p13; and MC5DN6 ({618683}), caused by mutation in the USMG5 gene (ATP5MD; {615204}) on chromosome 10q24.\n\nMutations in the mitochondrial-encoded MTATP6 ({516060}) and MTATP8 ({516070}) genes can also cause mitochondrial complex V deficiency (see, e.g., {500015}).",[604273],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18661,Active,Orphanet+OMIM,OMIM:604403,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 2","[Gefs+, type 2]","Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2) is an autosomal dominant neurologic disorder characterized by the onset of seizures associated with fever in the first months or years of life. Affected individuals continue to have various types of febrile and afebrile seizures later in life, including generalized tonic-clonic seizures (GTCS). Some patients may have offset of seizures in the first or second decades; rare patients may have mildly impaired intellectual development. In contrast, patients with isolated febrile seizures (FEB3A) have onset between ages 6 months and 4 years, show spontaneous remission by age 6 years, and have normal cognition. Mutations in the SCN1A gene thus cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 2, which represents a more severe phenotype (summary by {10:Scheffer and Berkovic, 1997} and {6:Mantegazza et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.",[604403],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18662,Active,Orphanet+OMIM,OMIM:609800,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of generalized epilepsy with febrile seizures plus (GEFS+), see {604233}.",[609800],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18663,Active,Orphanet+OMIM,OMIM:612279,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 6",,"For a general phenotypic description and a discussion of genetic heterogeneity of generalized epilepsy with febrile seizures plus (GEFS+), see {604233}.",[612279],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18664,Active,Orphanet+OMIM,OMIM:613828,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 8",,"Generalized epilepsy with febrile seizures-plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. Seizure phenotypes include classic infantile febrile seizures, febrile seizures persisting beyond age 6 years or accompanied by afebrile generalized tonic-clonic seizures (GTCS), generalized or localization-related epilepsy, and more rarely, severe seizures with encephalopathy (summary by {1:Poduri et al., 2009}).\n\nFor a discussion of genetic heterogeneity of GEFS+, see {604233}.",[613828],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18665,Active,Orphanet+OMIM,OMIM:613863,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 7",,"Patients with isolated febrile seizures (FEB3B) usually have onset between ages 5 months to 4 years and show spontaneous remission by age 6 years (summary by {5:Singh et al., 2009}), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by {6:Singh et al., 1999}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.",[613863],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18666,Active,Orphanet+OMIM,OMIM:614053,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 3","[Mitochondrial complex v (atp synthase) deficiency, atp5e type]",,[614053],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18667,Active,Orphanet+OMIM,OMIM:615228,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 4","[Mitochondrial complex v (atp synthase) deficiency, atp5a1 type]",,[615228],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18668,Active,Orphanet+OMIM,OMIM:616172,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 9","[Gefs+, type 9]","Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities (summary by {2:Schubert et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.",[616172],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18669,Active,Orphanet+OMIM,OMIM:617756,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 5,,,[617756],[316],[Progressive symmetric erythrokeratodermia],[18639],,,,, +GARD:18670,Active,Orphanet+OMIM,OMIM:618120,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 5","[Mitochondrial complex v (atp synthase) deficiency, atp5f1d type]",,[618120],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18671,Active,Orphanet+OMIM,OMIM:618482,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 10","[Gefs+, type 10]","Generalized epilepsy with febrile seizures plus-10 (GEFSP10) is a seizure disorder characterized by variable types of seizures, including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Onset tends to be in the first months or years of life, and the seizure type may evolve or even eventually remit. Some patients may have impaired intellectual development or autistic features. Brain imaging is usually normal (summary by {2:Marini et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.",[618482],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18672,Active,Orphanet+OMIM,OMIM:618531,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 6,,"EKVP6 is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces. Intrafamilial variation in severity has been observed, and most affected individuals experience slowly progressive spontaneous remission after puberty ({1:Wang et al., 2019}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[618531],[316],[Progressive symmetric erythrokeratodermia],[18639],,,,, +GARD:18673,Active,Orphanet+OMIM,OMIM:618683,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 6",,"Mitochondrial complex V (ATP synthase) deficiency nuclear type 6 (MC5DN6) is an autosomal recessive progressive and degenerative disorder characterized by episodic regression of gross motor skills beginning in early childhood. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome (see {256000}) (summary by {1:Barca et al., 2018}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex V deficiency, see MC5DN1 ({604273}).",[618683],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18674,Active,Orphanet+OMIM,OMIM:619209,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 7,,"Erythrokeratodermia variabilis et progressiva-7 (EKVP7) is characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present ({1:Duchatelet et al., 2019}; {2:Patel et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[619209],[316],[Progressive symmetric erythrokeratodermia],[18639],,,,, +GARD:18675,Active,Orphanet,ORPHA:67,Disorder,[Disease],Amoebiasis due to Entamoeba histolytica,,"A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.",,,,,,,,, +GARD:18676,Active,Orphanet,ORPHA:69,Group of disorders,[Category],Amyloidosis,,A vast group of diseases defined by the presence of insoluble protein deposits in tissues. Amyloidoses are classified according to clinical signs and biochemical type of amyloid protein involved.,,,,,,,,, +GARD:18677,Active,Orphanet,ORPHA:92,Group of disorders,[Clinical group],Juvenile idiopathic arthritis,"[Juvenile chronic arthritis, Juvenile rheumatoid arthritis]","A rare, heterogeneous group of rheumatologic diseases characterized by arthritis which has an onset before 16 years of age, persists for more than 6 weeks, and is of unknown origin.",,,,,,,,, +GARD:18678,Active,Orphanet,ORPHA:105,Disorder,[Morphological anomaly],Atresia of urethra,[Urethral atresia],"A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting in utero as megacystis, oligohydramnios or anhydramnios, and potter sequence.",,,,,,,,, +GARD:18679,Active,Orphanet,ORPHA:176,Group of disorders,[Clinical group],Non-rhizomelic chondrodysplasia punctata,,"Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Non-rhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.",,,,,,,,, +GARD:1868,Legacy,GARD,,,,,,,,,,,,Dincsoy-Salih-Patel syndrome,TRUE,FALSE,Retired +GARD:18680,Active,Orphanet,ORPHA:185,Disorder,[Malformation syndrome],Scimitar syndrome,"[Congenital pulmonary venolobar syndrome, Epibronchial right pulmonary vein syndrome, Halasz syndrome, Hypogenetic lung syndrome]",Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.,,,,,,,,, +GARD:18681,Active,Orphanet,ORPHA:200,Disorder,[Morphological anomaly],Isolated corpus callosum agenesis,,"A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving.",,,,,,,,, +GARD:18682,Active,Orphanet,ORPHA:224,Group of disorders,[Category],Neonatal diabetes mellitus,[NDM],"Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.",,,,,,,,, +GARD:18683,Active,Orphanet,ORPHA:236,Disorder,[Malformation syndrome],Trisomy 9p,"[Duplication 9p, Duplication of the short arm of chromosome 9, Trisomy of the short arm of chromosome 9]","Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.",,,,,,,,, +GARD:18684,Active,Orphanet,ORPHA:238,Disorder,[Morphological anomaly],Digestive duplication,,"Digestive duplication is a rare developmental defect during embryogenesis characterized by cystic, spherical or tubular structures (communicating or not with the lumen), located on a segment of the digestive tract (from the mouth cavity to anus), and constituted of a wall with a double smooth muscle layer and a digestive mucosa. The malformation may be asymptomatic or manifest with various signs including abdominal mass, abdominal pain, transit troubles or subocclusive syndrome. Mild digestive hemorrhage, perforation, pancreatitis and neonatal respiratory distress are possible complications.",,,,,,,,, +GARD:18685,Active,Orphanet,ORPHA:254,Group of disorders,[Clinical group],Spondylometaphyseal dysplasia,,Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.,,,,,,,,, +GARD:18686,Active,Orphanet,ORPHA:262,Group of disorders,[Clinical group],Duchenne and Becker muscular dystrophy,"[Severe dystrophinopathy, Duchenne and Becker type]","A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females.",,,,,,,,, +GARD:18687,Active,Orphanet,ORPHA:293,Disorder,[Disease],Congenital herpes simplex virus infection,"[Antenatal herpes simplex virus infection, Mother-to-child transmission of herpes simplex virus infection]","Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.",,,,,,,,, +GARD:18688,Active,Orphanet,ORPHA:310,Group of disorders,[Clinical group],Reflex epilepsy,,"Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy, see these terms), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).",,,,,,,,, +GARD:18689,Active,Orphanet,ORPHA:340,Disorder,[Disease],Hemorrhagic fever-renal syndrome,"[Hantavirosis, Hantavirus fever]","A rare rodent-borne, potentially severe, hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.",,,,,,,,, +GARD:18690,Active,Orphanet,ORPHA:344,Group of disorders,[Category],Arbovirus fever,,"A rare viral disease caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.",,,,,,,,, +GARD:18691,Active,Orphanet,ORPHA:370,Group of disorders,[Clinical group],Glycogen storage disease due to phosphorylase kinase deficiency,"[GSD due to phosphorylase kinase deficiency, GSD type 9, GSD type IX, Glycogen storage disease due to PhK deficiency, Glycogen storage disease type 9, Glycogen storage disease type IX, Glycogenosis due to phosphorylase kinase deficiency, Glycogenosis type 9, Glycogenosis type IX, Gycogenosis due to PhK deficiency]","Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms).",,,,,,,,, +GARD:18692,Active,Orphanet,ORPHA:390,Disorder,[Disease],Histoplasmosis,[Darling disease],"A rare mycosis characterized by granulomatous inflammation primarily of the lung after inhalation of spores of Histoplasma capsulatum. The severity of clinical disease depends on the immune status of the individual and the size of the inoculum. In immunocompetent persons, the infection usually takes a self-limiting and asymptomatic or relatively mild, flu-like course. In immunocompromised patients, it can become progressive and disseminated, involving multiple organs and presenting with fever, pneumonia, hepatosplenomegaly, skin infiltrates, and endocarditis, among others.",,,,,,,,, +GARD:18693,Active,Orphanet,ORPHA:493,Disorder,[Disease],Familial keratoacanthoma,"[Hereditary keratoacanthoma, Multiple keratoacanthoma]","A rare inherited skin cancer syndrome characterized by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces.",,,,,,,,, +GARD:18694,Active,Orphanet,ORPHA:498,Group of disorders,[Clinical group],Keratosis pilaris atrophicans,,,,,,,,,,, +GARD:18695,Active,Orphanet,ORPHA:536,Disorder,[Disease],Systemic lupus erythematosus,"[Disseminated lupus erythematosus, SLE]",,,,,,,,,, +GARD:18696,Active,Orphanet,ORPHA:537,Subtype of disorder,[Clinical subtype],Toxic epidermal necrolysis,[Lyell syndrome],An extended form of Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.,,,,,,,,, +GARD:18697,Active,Orphanet,ORPHA:541,Group of disorders,[Clinical group],Primary cutaneous CD30+ T-cell lymphoproliferative disease,[Primary cutaneous Ki-1+ T-cell lymphoproliferative disease],,,,,,,,,, +GARD:18698,Active,Orphanet,ORPHA:542,Group of disorders,[Category],Primary cutaneous lymphoma,,"Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.",,,,,,,,, +GARD:18699,Active,Orphanet,ORPHA:599,Group of disorders,[Category],Distal myopathy,[Distal muscular dystrophy],Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.,,,,,,,,, +GARD:1870,Legacy,GARD,,,,,,,,,,,,Diomedi Bernardi Placidi syndrome,TRUE,FALSE,Active +GARD:18700,Active,Orphanet,ORPHA:617,Disorder,[Morphological anomaly],Congenital primary megaureter,[Congenital primary megalo-ureter],"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.",,,,,,,,, +GARD:18701,Active,Orphanet,ORPHA:658,Group of disorders,[Clinical group],Non-histaminic angioedema,"[Angioneurotic edema, Bradykinine-induced angioedema, Non histamine-induced angioedema]",A disorder that is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.,,,,,,,,, +GARD:18702,Active,Orphanet,ORPHA:707,Disorder,[Disease],Plague,[Yersiniosis],Plague is a severe bacterial infection caused by the Gram-negative bacterium Yersinia pestis.,,,,,,,,, +GARD:18703,Active,Orphanet,ORPHA:720,Disorder,[Disease],Pili bifurcati,,An uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.,,,,,,,,, +GARD:18704,Active,Orphanet,ORPHA:795,Group of disorders,[Category],Rare form of salmonellosis,,"Rare form of salmonellosis is a group of rare invasive salmonellosis that includes infection with Salmonella enterica typhoidal species (S. typhi and S. paratyphi) that results in enteric fever, and infection by invasive non-typhoidal species (typically strains of S. typhimurium and S. enteritidis) which have a high burden amongst immunocompromised or malnourished individuals, and results in bacteriemia, systemic febrile disease, and variable manifestations including lower respiratory tract infection and splenomegaly.",,,,,,,,, +GARD:18705,Active,Orphanet,ORPHA:801,Group of disorders,[Clinical group],Scleroderma,,"Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).",,,,,,,,, +GARD:18706,Active,Orphanet,ORPHA:831,Disorder,[Disease],Congenital cervical spinal stenosis,"[Congenital narrowing of cervical spinal canal, Congenital stenosis of the cervical spine]","Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.",,,,,,,,, +GARD:18707,Active,Orphanet,ORPHA:854,Disorder,[Clinical syndrome],Primitive portal vein thrombosis,[Non-cirrhotic portal vein thrombosis],Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.,,,,,,,,, +GARD:18708,Active,Orphanet,ORPHA:858,Disorder,[Disease],Congenital toxoplasmosis,"[Mother-to-child transmission of toxoplasmosis, Toxoplasma embryofetopathy, Toxoplasma embryopathy]","A rare fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primary infection by Toxoplasma gondii (Tg).",,,,,,,,, +GARD:18709,Active,Orphanet,ORPHA:874,Disorder,[Disease],Primary adult heart tumor,"[Adult cardiac tumor, Adult heart tumor]","A rare disorder that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma.",,,,,,,,, +GARD:18710,Active,Orphanet,ORPHA:875,Disorder,[Disease],Primary pediatric heart tumor,"[Cardiac tumor of child, Heart tumor of child]","Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.",,,,,,,,, +GARD:18711,Active,Orphanet,ORPHA:883,Disorder,[Disease],Extragonadal teratoma,,"Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.",,,,,,,,, +GARD:18712,Active,Orphanet,ORPHA:980,Disorder,[Morphological anomaly],Absence of the pulmonary artery,"[Aplasia of pulmonary artery, UAPA, Unilateral Pulmonary Artery Absence, Unilateral pulmonary artery agenesis]","A rare congenital great vessels anomaly that commonly presents with dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. It is often associated with congenital heart malformation (CHM ). In the absence of associated cardiac malformation the condition may be asymptomatic until adult age.",,,,,,,,, +GARD:18713,Active,Orphanet,ORPHA:1006,Disorder,[Disease],Alopecia antibody deficiency,[Ipp-Gelfand syndrome],"A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.",,,,,,,,, +GARD:18714,Active,Orphanet,ORPHA:1047,Group of disorders,[Category],Sideroblastic anemia,,"Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms).",,,,,,,,, +GARD:18715,Active,Orphanet,ORPHA:1084,Disorder,[Disease],Isolated lissencephaly type 1 without known genetic defects,,"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.",,,,,,,,, +GARD:18716,Active,Orphanet,ORPHA:1121,Disorder,[Malformation syndrome],Radial deficiency-tibial hypoplasia syndrome,,"Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.",,,,,,,,, +GARD:18717,Active,Orphanet,ORPHA:1138,Group of disorders,[Clinical group],Abnormal origin of the pulmonary artery,,,,,,,,,,, +GARD:18718,Active,Orphanet,ORPHA:1172,Group of disorders,[Category],Autosomal recessive cerebellar ataxia,[ARCA],"A heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.",,,,,,,,, +GARD:18719,Active,Orphanet,ORPHA:1349,Disorder,[Malformation syndrome],Mitochondrial DNA-related cardiomyopathy and hearing loss,"[Maternally-inherited cardiomyopathy and deafness, mtDNA-related cardiomyopathy and deafness, mtDNA-related cardiomyopathy and hearing loss, tRNA-LYS-related cardiomyopathy-hearing loss syndrome]","A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.",,,,,,,,, +GARD:1872,Active,Orphanet,ORPHA:227,Disorder,[Morphological anomaly],Diphallia,,"A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.",,,,,,Diphallia,TRUE,FALSE,Active +GARD:18720,Active,Orphanet,ORPHA:1398,Disorder,[Morphological anomaly],Isolated cerebellar agenesis,"[Near total absence of cerebellum, Subtotal absence of cerebellum]","A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and intellectual disability.",,,,,,,,, +GARD:18721,Active,Orphanet,ORPHA:1431,Group of disorders,[Clinical group],Paroxysmal dyskinesia,"[Paroxysmal choreoathetosis, Paroxysmal dystonic choreoathetosis]","Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms).",,,,,,,,, +GARD:18722,Active,Orphanet,ORPHA:1455,Subtype of disorder,[Clinical subtype],Autosomal dominant coarctation of aorta,,"A number of families have been described, where several members were affected with coarctation of aorta. In a systematic study of coarctation, familial aggregation was considered as result of multifactorial inheritance and recurrence risks in sibs was evaluated at about 0.5% for coarctation and 1.0% for any form of congenital heart defect. Nevertheless, in some of the described families, aortic coarctations seems to be inherited as an autosomal dominant mutation.",,,,,,,,, +GARD:18723,Active,Orphanet,ORPHA:1456,Subtype of disorder,[Clinical subtype],Atypical coarctation of aorta,"[Coarctation of the abdominal aorta, Mid-aortic dysplastic syndrome, Mid-aortic syndrome, Midaortic syndrome, Middle aortic syndrome]","A rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).",,,,,,,,, +GARD:18724,Active,Orphanet,ORPHA:1461,Disorder,[Morphological anomaly],Criss-cross heart,"[Criss-cross atrioventricular relationships, Superoinferior ventricles, Twisted atrioventricular connections]","Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.",,,,,,,,, +GARD:18725,Active,Orphanet,ORPHA:1464,Disorder,[Morphological anomaly],Univentricular heart,[Double inlet atrioventricular connection],"A severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.",,,,,,,,, +GARD:18726,Active,Orphanet,ORPHA:1505,Group of disorders,[Clinical group],Short rib-polydactyly syndrome,,A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).,,,,,,,,, +GARD:18727,Active,Orphanet,ORPHA:1506,Disorder,[Malformation syndrome],Thin ribs-tubular bones-dysmorphism syndrome,[Sharma-Kapoor-Ramji syndrome],"An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.",,,,,,,,, +GARD:18728,Active,Orphanet,ORPHA:1544,Disorder,[Disease],Benign focal seizures of adolescence,[Adolescent benign focal crisis],"A rare epilepsy typically characterized by isolated focal motor and somatosensory seizures. Less frequently other focal seizure types, with or without secondary generalization, have been described. The seizures usually happen when the patient is awake and take a benign course. The condition is transitory, interictal examinations are normal, and there is usually no family history of epilepsy.",,,,,,,,, +GARD:18729,Active,Orphanet,ORPHA:1581,Disorder,[Malformation syndrome],Non-distal monosomy 10q,"[Non-distal deletion 10q, Non-telomeric monosomy 10q]","Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.",,,,,,,,, +GARD:1873,Legacy,GARD,,,,,,,,,,,,Diphallus rachischisis imperforate anus,TRUE,FALSE,Active +GARD:18730,Active,Orphanet,ORPHA:1627,Disorder,[Malformation syndrome],Deletion 5q35,"[Del (5)(q35), Del (5)(qter), Distal 5q deletion, Monosomy 5q35, Telomeric deletion 5q]","Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.",,,,,,,,, +GARD:18731,Active,Orphanet,ORPHA:1636,Disorder,[Malformation syndrome],Distal monosomy 7q36,"[Distal deletion 7q36, Monosomy 7qter, Telomeric deletion 7q36]","Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.",,,,,,,,, +GARD:18732,Active,Orphanet,ORPHA:1642,Disorder,[Malformation syndrome],Distal monosomy 9p,"[Distal deletion 9p, Monosomy 9pter, Telomeric deletion 9p]","Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.",,,,,,,,, +GARD:18733,Active,Orphanet,ORPHA:1643,Disorder,[Malformation syndrome],Xp22.3 microdeletion syndrome,[Del(X)(p23)],"Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.",,,,,,,,, +GARD:18734,Active,Orphanet,ORPHA:1665,Disorder,[Malformation syndrome],Sporadic fetal brain disruption sequence,,"Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.",,,,,,,,, +GARD:18735,Active,Orphanet,ORPHA:1677,Disorder,[Morphological anomaly],Familial idiopathic dilatation of the right atrium,,"A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.",,,,,,,,, +GARD:18736,Active,Orphanet,ORPHA:1692,Disorder,[Malformation syndrome],Mosaic trisomy 1,"[Mosaic trisomy chromosome 1, Trisomy 1 mosaicism]","A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (campodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.",,,,,,,,, +GARD:18737,Active,Orphanet,ORPHA:1695,Disorder,[Malformation syndrome],Non-distal trisomy 10q,"[Non-distal duplication 10q, Non-telomeric trisomy 10q]","Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.",,,,,,,,, +GARD:18738,Active,Orphanet,ORPHA:1702,Disorder,[Malformation syndrome],Non-distal trisomy 13q,"[Non-distal duplication 13q, Non-telomeric trisomy 13q]","Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.",,,,,,,,, +GARD:18739,Active,Orphanet,ORPHA:1705,Disorder,[Malformation syndrome],Distal trisomy 14q,"[Distal duplication 14q, Telomeric duplication 14q, Trisomy 14qter]","Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.",,,,,,,,, +GARD:1874,Active,Orphanet,ORPHA:714,Disorder,[Disease],Hemolytic anemia due to diphosphoglycerate mutase deficiency,,,[222800],,,,,Diphosphoglycerate mutase deficiency of erythrocyte,TRUE,FALSE,Active +GARD:18740,Active,Orphanet,ORPHA:1707,Subtype of disorder,[Etiological subtype],Distal trisomy 15q,"[Distal duplication 15q, Telomeric duplication 15q, Trisomy 15qter]",,,,,,,,,, +GARD:18741,Active,Orphanet,ORPHA:1708,Disorder,[Malformation syndrome],Mosaic trisomy 16,"[Mosaic trisomy chromosome 16, Trisomy 16 mosaicism]","Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.",,,,,,,,, +GARD:18742,Active,Orphanet,ORPHA:1716,Disorder,[Malformation syndrome],Distal trisomy 18q,"[Distal duplication 18q, Telomeric duplication 18q, Trisomy 18qter]","Distal trisomy 18q is a rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.",,,,,,,,, +GARD:18743,Active,Orphanet,ORPHA:1717,Disorder,[Malformation syndrome],Distal trisomy 19q,"[Distal duplication 19q, Telomeric duplication 19q, Trisomy 19qter]","Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.",,,,,,,,, +GARD:18744,Active,Orphanet,ORPHA:1724,Disorder,[Malformation syndrome],Mosaic trisomy 20,"[Mosaic trisomy chromosome 20, Trisomy 20 mosaicism]","Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.",,,,,,,,, +GARD:18745,Active,Orphanet,ORPHA:1745,Disorder,[Malformation syndrome],Distal trisomy 6p,"[Distal duplication 6p, Telomeric duplication 6p, Trisomy 6pter]","Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.",,,,,,,,, +GARD:18746,Active,Orphanet,ORPHA:1757,Disorder,[Malformation syndrome],Fibular dimelia-diplopodia syndrome,[Leg duplication-mirror foot syndrome],"A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be assoicated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma.",,,,,,,,, +GARD:18747,Active,Orphanet,ORPHA:1772,Disorder,[Malformation syndrome],"45,X/46,XY mixed gonadal dysgenesis","[45,X/46,XY MGD, 45,X0/46,XY MGD, 45,X0/46,XY mixed gonadal dysgenesis]","45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.",,,,,,,,, +GARD:18748,Active,Orphanet,ORPHA:1851,Disorder,[Morphological anomaly],Multicystic dysplastic kidney,"[MCDK, Multicystic renal dysplasia]","A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.",,,,,,,,, +GARD:18749,Active,Orphanet,ORPHA:1866,Group of disorders,[Category],"Focal, segmental or multifocal dystonia",,"A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.",,,,,,,,, +GARD:1875,Active,Orphanet,ORPHA:1679,Disorder,[Disease],Diphtheria,,"A rare bacterial infectious disease characterized by an affliction of the upper respiratory tract mediated by the toxin of Corynebacterium diphtheriae. Symptoms include formation of an inflammatory pseudomembrane, fever, sore throat, headaches, coughing, dysphagia, dyspnea, and prominently swollen cervical lymph nodes. The disease may lead to respiratory failure and severe toxin-mediated damage of internal organs, including the heart and kidneys. A cutaneous form of diphtheria is more common in tropical climates and usually follows an indolent course.",,,,,,Diphtheria,TRUE,FALSE,Active +GARD:18750,Active,Orphanet,ORPHA:1913,Disorder,[Malformation syndrome],Fetal trimethadione syndrome,,"A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.",,,,,,,,, +GARD:18751,Active,Orphanet,ORPHA:1920,Disorder,[Malformation syndrome],Toluene embryopathy,,"A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.",,,,,,,,, +GARD:18752,Active,Orphanet,ORPHA:1929,Disorder,[Disease],Rasmussen subacute encephalitis,[Rasmussen syndrome],"A rare inflammatory and autoimmune disease with epilepsy characterized by unilateral hemispheric atrophy, associated with drug-resistant focal epilepsy, progressive hemiplegia, and cognitive decline. The disease mainly affects children and begins with a prodromal period with mild hemiparesis or infrequent seizures lasting up to several years. The acute stage is marked by frequent seizures arising from one cerebral hemisphere, followed by a residual stage with persistent severe neurological deficits and relapsing epilepsy.",,,,,,,,, +GARD:18753,Active,Orphanet,ORPHA:1931,Subtype of disorder,[Clinical subtype],Frontal encephalocele,[Anterior encephalocele],,,,,,,,,, +GARD:18754,Active,Orphanet,ORPHA:1991,Group of disorders,[Clinical group],Cleft lip with or without cleft palate,"[Tessier cleft number 1,2]",,,,,,,,,, +GARD:18755,Active,Orphanet,ORPHA:2003,Disorder,[Malformation syndrome],Cleft lip/palate-deafness-sacral lipoma syndrome,"[Cleft lip/palate-hearing loss-sacral lipoma syndrome, Lowry-Yong syndrome]","Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.",,,,,,,,, +GARD:18756,Active,Orphanet,ORPHA:2006,Disorder,[Morphological anomaly],Median cleft lip/mandibule,[Median cleft lower facial stage],Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.,,,,,,,,, +GARD:18757,Active,Orphanet,ORPHA:2034,Group of disorders,[Category],Filariasis,,"A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.",,,,,,,,, +GARD:18758,Active,Orphanet,ORPHA:2039,Disorder,[Morphological anomaly],Congenital systemic arteriovenous fistula,,"Congenital systemic arteriovenous fistula is a rare, potentially life-threatening, vascular malformation characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings.",,,,,,,,, +GARD:18759,Active,Orphanet,ORPHA:2062,Disorder,[Malformation syndrome],Progressive non-infectious anterior vertebral fusion,[Copenhagen syndrome],Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.,,,,,,,,, +GARD:1876,Active,Orphanet,ORPHA:1681,Disorder,[Morphological anomaly],Diprosopus,"[Craniofacial duplication, Diprosopia]","Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases.",,,,,,Diprosopia,TRUE,FALSE,Active +GARD:18760,Active,Orphanet,ORPHA:2104,Disorder,[Malformation syndrome],Dysmorphism-pectus carinatum-joint laxity syndrome,[Guízar Vázquez-Sánchez-Manzano syndrome],"Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.",,,,,,,,, +GARD:18761,Active,Orphanet,ORPHA:2130,Group of disorders,[Clinical group],Hemimelia,[Longitudinal meromelia],"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity.",,,,,,,,, +GARD:18762,Active,Orphanet,ORPHA:2145,Disorder,[Malformation syndrome],"Craniosynostosis, Herrmann-Opitz type",,"Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.",,,,,,,,, +GARD:18763,Active,Orphanet,ORPHA:2266,Disorder,[Disease],"Hypotrichosis-intellectual disability, Lopes type",[Lopes-Marques de Faria syndrome],"A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.",,,,,,,,, +GARD:18764,Active,Orphanet,ORPHA:2282,Disorder,[Malformation syndrome],Dysmorphism-short stature-deafness-disorder of sex development syndrome,"[Dysmorphism-short stature-hearing loss-disorder of sex development syndrome, Ieshima-Koeda-Inagaki syndrome]","Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.",,,,,,,,, +GARD:18765,Active,Orphanet,ORPHA:2305,Disorder,[Malformation syndrome],Isotretinoin syndrome,"[Isotretinoin embryopathy, Retinoic acid embryopathy, Retinoids embryopathy]","A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia.",,,,,,,,, +GARD:18766,Active,Orphanet,ORPHA:2325,Disorder,[Malformation syndrome],Epidermolysis bullosa simplex with anodontia/hypodontia,"[EBS with anodontia/hypodontia, Kallin syndrome]","A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail dystrophy. Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described.",,,,,,,,, +GARD:18767,Active,Orphanet,ORPHA:2326,Disorder,[Malformation syndrome],Kallmann syndrome-heart disease syndrome,,"Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.",,,,,,,,, +GARD:18768,Active,Orphanet,ORPHA:2338,Group of disorders,[Clinical group],Isolated punctate palmoplantar keratoderma,"[Isolated punctate PPK, Isolated punctate palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:18769,Active,Orphanet,ORPHA:2416,Group of disorders,[Clinical group],Congenital primary lymphedema without systemic or visceral involvement,,,,,,,,,,, +GARD:18770,Active,Orphanet,ORPHA:2420,Disorder,[Disease],Primary pulmonary lymphoma,,"A rare neoplastic disease defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).",,,,,,,,, +GARD:18771,Active,Orphanet,ORPHA:2443,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies,"[Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies, OXPHOS disease due to nDNA anomalies, OXPHOS disease due to nuclear DNA anomalies]","A group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis.",,,,,,,,, +GARD:18772,Active,Orphanet,ORPHA:2444,Disorder,[Malformation syndrome],Congenital pulmonary airway malformation,"[CCAM, CPAM, Congenital cystic adenomatoid malformation of the lung, Congenital cystic adenomatous malformation of the lung, Congenital cystic disease of the lung]","A rare respiratory malformation characterized by a hamartomatous mass of non-functioning lung tissue of variable extent and with variable degrees of cystic or adenomatoid change. Clinical presentation, prognosis, and presence of associated abnormalities depend on the subtype of the lesion. Based on histopathological findings, five subtypes (types 0 to 4) can be differentiated.",,,,,,,,, +GARD:18773,Active,Orphanet,ORPHA:2487,Disorder,[Malformation syndrome],Lower limb malformation-hypospadias syndrome,[Fried-Goldberg-Mundel syndrome],"Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.",,,,,,,,, +GARD:18774,Active,Orphanet,ORPHA:2519,Disorder,[Malformation syndrome],Microcephaly-seizures-intellectual disability-heart disease syndrome,,"A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.",,,,,,,,, +GARD:18775,Active,Orphanet,ORPHA:2582,Disorder,[Malformation syndrome],Myalgia-eosinophilia syndrome associated with tryptophan,,"Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.",,,,,,,,, +GARD:18776,Active,Orphanet,ORPHA:2653,Disorder,[Malformation syndrome],Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome,"[Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome, Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome, Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome]","Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.",,,,,,,,, +GARD:18777,Active,Orphanet,ORPHA:2666,Disorder,[Disease],Adult familial nephronophthisis-spastic quadriparesia syndrome,,"A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.",,,,,,,,, +GARD:18778,Active,Orphanet,ORPHA:2787,Disorder,[Malformation syndrome],Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome,[Heide syndrome],"A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981.",,,,,,,,, +GARD:18779,Active,Orphanet,ORPHA:2846,Group of disorders,[Category],Congenital pericardium anomaly,,"Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst) (see these terms).",,,,,,,,, +GARD:1878,Legacy,GARD,,,,,,,,,,,,"Chromosome 1, uniparental disomy 1q12 q21",TRUE,FALSE,Active +GARD:18780,Active,Orphanet,ORPHA:2847,Disorder,[Malformation syndrome],Pericardial and diaphragmatic defect,,Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.,,,,,,,,, +GARD:18781,Active,Orphanet,ORPHA:2907,Disorder,[Disease],Hereditary acrokeratotic poikiloderma,[Weary syndrome],"A rare hereditary poikiloderma characterized by infantile onset of vesicopustule formation on hands and feet and widespread eczematoid dermatitis (both spontaneously resolving during childhood), as well as gradually developing diffuse poikiloderma with striate and reticulate atrophy (excluding the face, scalp, and ears), and development of keratotic papules on hands, feet, elbows, and knees, beginning in early childhood. There have been no further descriptions in the literature since 1981.",,,,,,,,, +GARD:18782,Active,Orphanet,ORPHA:2973,Disorder,[Malformation syndrome],"46,XX disorder of sex development-anorectal anomalies syndrome",,"46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.",,,,,,,,, +GARD:18783,Active,Orphanet,ORPHA:2982,Group of disorders,[Category],"46,XX disorder of sex development","[46,XX DSD]",,,,,,,,,, +GARD:18784,Active,Orphanet,ORPHA:3004,Disorder,[Malformation syndrome],Mirror polydactyly-vertebral segmentation-limbs defects syndrome,,"A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.",,,,,,,,, +GARD:18785,Active,Orphanet,ORPHA:3091,Group of disorders,[Category],Congenital systemic veins anomaly,,,,,,,,,,, +GARD:18786,Active,Orphanet,ORPHA:3093,Disorder,[Morphological anomaly],Congenital aortic valve stenosis,,"A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.",,,,,,,,, +GARD:18787,Active,Orphanet,ORPHA:3151,Disorder,[Disease],Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome,,"Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis (see this term) and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.",,,,,,,,, +GARD:18788,Active,Orphanet,ORPHA:3225,Disorder,[Malformation syndrome],Hearing loss-familial salivary gland insensitivity to aldosterone syndrome,[Tungland-Bellman syndrome],Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.,,,,,,,,, +GARD:18789,Active,Orphanet,ORPHA:3240,Disorder,[Disease],Central nervous system calcification-deafness-tubular acidosis-anemia syndrome,"[Central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome, Yoshimura-Takeshita syndrome]","A rare, genetic, syndromic, neurological disorder characterized by early infantile-onset of the progressive brain and spinal cord calcification, growth retardation, psychomotor deterioration, deafness, microcytic hypochromic anemia, and variable distal renal tubular acidosis. There have been no further descriptions in the literature since 1997.",,,,,,,,, +GARD:18790,Active,Orphanet,ORPHA:3276,Group of disorders,[Category],Disorder of plasmalogens biosynthesis,,,,,,,,,,, +GARD:18791,Active,Orphanet,ORPHA:3293,Disorder,[Malformation syndrome],Telecanthus-hypertelorism-strabismus-pes cavus syndrome,,"Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.",,,,,,,,, +GARD:18792,Active,Orphanet,ORPHA:3309,Disorder,[Malformation syndrome],Tetrasomy 5p,[Isochromosome 5p],"Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).",,,,,,,,, +GARD:18793,Active,Orphanet,ORPHA:3343,Disorder,[Disease],Toxocariasis,,"A cosmopolitan zoonotic disease caused in humans by the accidental ingestion of eggs or larvae of the ascarids Toxocara canis or Toxocara cati, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major organs such as liver, lungs or central nervous system (manifesting with fever, cough, hepatomegaly, pneumonia or rarely encephalitis), or as ocular larva migrans caused by larval migration to the eye (manifesting as ocular inflammation and retinal scaring).",,,,,,,,, +GARD:18794,Active,Orphanet,ORPHA:3379,Disorder,[Malformation syndrome],Distal trisomy 17q,"[Distal duplication 17q, Telomeric duplication 17q, Trisomy 17qter]","Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.",,,,,,,,, +GARD:18795,Active,Orphanet,ORPHA:3386,Disorder,[Disease],American trypanosomiasis,[Chagas disease],"A tropical disease mainly found in latin America and transmitted by triatomine insects (mostly Triatoma infestans and Rhodnius prolixus and Panstrongylus megistus) harboring the hemoflagellate protozoan parasite Trypanosoma cruzi. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates.",,,,,,,,, +GARD:18796,Active,Orphanet,ORPHA:3388,Group of disorders,[Category],Neural tube defect,,,,,,,,,,, +GARD:18797,Active,Orphanet,ORPHA:3399,Group of disorders,[Category],Germ cell tumor,,,,,,,,,,, +GARD:18798,Active,Orphanet,ORPHA:3400,Disorder,[Morphological anomaly],Aorto-ventricular tunnel,,"A congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.",,,,,,,,, +GARD:18799,Active,Orphanet,ORPHA:26349,Disorder,[Disease],Protein S acquired deficiency,,,,,,,,,,, +GARD:188,Legacy,GARD,,,,,,,,,,,,N acetyltransferase deficiency,TRUE,FALSE,Active +GARD:18800,Active,Orphanet,ORPHA:31142,Disorder,[Disease],Oral erosive lichen,,,,,,,,,,, +GARD:18801,Active,Orphanet,ORPHA:31153,Group of disorders,[Clinical group],Hypoalphalipoproteinemia,,,,,,,,,,, +GARD:18802,Active,Orphanet,ORPHA:31154,Group of disorders,[Clinical group],Hypobetalipoproteinemia,,Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.,,,,,,,,, +GARD:18803,Active,Orphanet,ORPHA:31824,Disorder,[Particular clinical situation in a disease or syndrome],Colchicine poisoning,,"Colchicine poisoning is a potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.",,,,,,,,, +GARD:18804,Active,Orphanet,ORPHA:31825,Disorder,[Disease],Methanol poisoning,,"Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).",,,,,,,,, +GARD:18805,Active,Orphanet,ORPHA:31826,Disorder,[Disease],Ethylene glycol poisoning,,"Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.",,,,,,,,, +GARD:18806,Active,Orphanet,ORPHA:31827,Disorder,[Disease],Paraquat poisoning,,"Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.",,,,,,,,, +GARD:18807,Active,Orphanet,ORPHA:31828,Disorder,[Particular clinical situation in a disease or syndrome],Digitalis poisoning,,"A rare, potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.",,,,,,,,, +GARD:18808,Active,Orphanet,ORPHA:33408,Disorder,[Disease],Bullous lichen planus,,Bullous lichen planus is a variant of rare lichen planus (see this term) characterized by the development of vesico-bullous lesions.,,,,,,,,, +GARD:18809,Active,Orphanet,ORPHA:33475,Disorder,[Disease],Meningococcal meningitis,,"Meningococcal meningitis is an acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.",,,,,,,,, +GARD:18810,Active,Orphanet,ORPHA:34533,Group of disorders,[Category],Corneal dystrophy,,The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.,,,,,,,,, +GARD:18811,Active,Orphanet,ORPHA:35062,Disorder,[Disease],Severe disseminated cytomegalovirus infection in immunocompetent patients,[Severe disseminated CMV infection in immunocompetent patients],"A rare viral disease characterized by fulminant cytomegalovirus infection with multiple organ involvement including the brain, lung, liver, and/or heart, among others, and marked constitutional symptoms in immunocompetent patients. The condition is associated with a high case fatality rate.",,,,,,,,, +GARD:18812,Active,Orphanet,ORPHA:35063,Disorder,[Disease],Fulminant viral hepatitis,,"Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.",,,,,,,,, +GARD:18813,Active,Orphanet,ORPHA:35125,Disorder,[Disease],Epidermal nevus syndrome,[Epidermal hamartoma syndrome],"Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.",,,,,,,,, +GARD:18814,Active,Orphanet,ORPHA:35696,Group of disorders,[Category],Mitochondrial disorder due to a defect in mitochondrial protein synthesis,"[COXPD, Combined OXPHOS defect, Combined OXPHOS deficiency, Combined oxidative phosphorylation defect]",,,,,,,,,, +GARD:18815,Active,Orphanet,ORPHA:35705,Group of disorders,[Category],Neurometabolic disorder due to serine deficiency,[Serine deficiency],"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms).",,,,,,,,, +GARD:18816,Active,Orphanet,ORPHA:35808,Group of disorders,[Category],Malignant sex cord stromal tumor of ovary,"[Malignant ovarian SCST, Malignant ovarian sex cord-stromal tumor]","Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer (see this term) arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.",,,,,,,,, +GARD:18817,Active,Orphanet,ORPHA:35889,Disorder,[Disease],Acute opioid poisoning,,"A rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.",,,,,,,,, +GARD:18818,Active,Orphanet,ORPHA:35981,Group of disorders,[Clinical group],Polymicrogyria,,"A heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents with variable combinations of neurological symptoms of varying severity such as epilepsy, developmental delay, intellectual disability, motor dysfunction (e.g. spasticity), and pseudobulbar palsy.",,,,,,,,, +GARD:18819,Active,Orphanet,ORPHA:36235,Disorder,[Disease],Staphylococcal scarlet fever,,"A rare bacterial infectious disease most prominently characterized by a red, sandpaper-like rash, a strawberry-like tongue, and a flushed face with perioral pallor. Other clinical symptoms include pharyngitis, tonsillitis, fever, headaches, and swollen lymph nodes. Potential complications are sinusitis, pneumonia, rheumatic fever, glomerulonephritis, and endocarditis, among others. The disease is caused by infection with toxin producing strains of Streptococcus pyogenes and can affect people of any age, although it is most common in children.",,,,,,,,, +GARD:18820,Active,Orphanet,ORPHA:36237,Disorder,[Disease],Bullous impetigo,,"A rare, acquired, typically benign, bacterial infectious disease caused by Staphylococcus aureus characterized by large, fragile vesicles and flaccid bullae on an erythematous base, which evolve into moistened erosions with a thin, varnish-like crust, usually localized in intertriginous areas of the trunk and extremities (armpits, groins, between the fingers or toes, beneath the breasts). Although uncommon, systemic symptoms, such as fever, diarrhea, and weakness, may be associated.",,,,,,,,, +GARD:18821,Active,Orphanet,ORPHA:36238,Disorder,[Disease],Staphylococcal necrotizing pneumonia,,"Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.",,,,,,,,, +GARD:18822,Active,Orphanet,ORPHA:36273,Disorder,[Disease],Gastric linitis plastica,"[Borrmann gastric cancer type 4, Linitis plastica of the stomach]","Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.",,,,,,,,, +GARD:18823,Active,Orphanet,ORPHA:36382,Disorder,[Disease],Familial cervical artery dissection,"[Familial CAD, Hereditary CAD, Hereditary cervical artery dissection]","Familial cervical artery dissection is a rare, genetic, neurological disorder characterized by dissection of the cervical artery in various members of a single family, presenting with variable manifestations which range from asymptomatic to the triad of ipsilateral pain in the head, neck, and face, Horner syndrome, and cerebral or retinal ischemic symptoms. Headache and cerebral ischemic features are most frequently observed.",,,,,,,,, +GARD:18824,Active,Orphanet,ORPHA:36913,Disorder,[Disease],Autoimmune hypoparathyroidism,,"A rare parathyroid disease and phosphocalcic metabolism anomaly characterized by hypocalcemia, hyperphosphatemia, hypercalciuria, and low serum parathyroid hormone levels, in the presence of autoantibodies against parathyroid tissue. Clinical signs and symptoms are of variable severity and include paresthesia, seizures, laryngospasm, tetany, cardiac dysrhythmias, calcifications of the basal ganglia, and neuropsychological manifestations such as anxiety, depression, confusion, or hallucination. The condition may occur as an isolated disease or in association with other autoimmune diseases.",,,,,,,,, +GARD:18825,Active,Orphanet,ORPHA:37202,Disorder,[Disease],Interstitial cystitis,"[Bladder pain syndrome, IC/BPS, IC/PBS, Interstitial cystitis/bladder pain syndrome, Interstitial cystitis/painful bladder syndrome, Painful bladder syndrome]","A rare non-infectious, chronic and most often progressive disease of the urinary bladder. It is characterized by varying combinations and extent of pain, urinary frequency (pollakisuria), nocturia and urgency. Interstitial cystitis (IC) has a broad intersection with Bladder Pain Syndrome (BPS) and Overactive Bladder (OAB).",,,,,,,,, +GARD:18826,Active,Orphanet,ORPHA:37559,Disorder,[Disease],Acquired kinky hair syndrome,,"A rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.",,,,,,,,, +GARD:18827,Active,Orphanet,ORPHA:40366,Disorder,[Malformation syndrome],Acitretin/etretinate embryopathy,"[Fetal acitretin/etretinate syndrome, Retinoid embryopathy]","A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.",,,,,,,,, +GARD:18828,Active,Orphanet,ORPHA:43116,Disorder,[Disease],Serotonin syndrome,"[Serotonergic syndrome, Serotonin storm, Serotonin toxicity, Serotonin toxidrome]","Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).",,,,,,,,, +GARD:18829,Active,Orphanet,ORPHA:43117,Disorder,[Particular clinical situation in a disease or syndrome],Acute tricyclic antidepressant poisoning,,"A rare, potentially lethal intoxication characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension and sudden death.",,,,,,,,, +GARD:1883,Active,Orphanet,ORPHA:345,Disorder,[Disease],Dissecting cellulitis of the scalp,,"Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.",[260910],,,,,Dissecting cellulitis of the scalp,TRUE,FALSE,Active +GARD:18830,Active,Orphanet,ORPHA:43119,Disorder,[Particular clinical situation in a disease or syndrome],Acute poisoning by drugs with membrane-stabilizing effect,,"A rare clinical situation characterized by acute, potentially life-threatening toxic effects of drugs acting on voltage-gated sodium or calcium channels, such as tricyclic antidepressants, anticonvulsants, local anesthetics and antiarrhythmics, some beta-blockers, and chloroquine. Clinical manifestations include abnormal ECG findings (intraventricular conduction block with widening of the QRS complex, T wave flattening, prolongation of the QT interval) and variable signs and symptoms depending on the drug, typically involving the cardiovascular and central nervous system, among others.",,,,,,,,, +GARD:18831,Active,Orphanet,ORPHA:45452,Disorder,[Disease],Idiopathic neonatal atrial flutter,,"Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.",,,,,,,,, +GARD:18832,Active,Orphanet,ORPHA:45453,Disorder,[Disease],Incessant infant ventricular tachycardia,,"Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.",,,,,,,,, +GARD:18833,Active,Orphanet,ORPHA:46485,Group of disorders,[Clinical group],Superficial pemphigus,,,,,,,,,,, +GARD:18834,Active,Orphanet,ORPHA:46488,Disorder,[Disease],Linear IgA dermatosis,,"A rare, acquired autoimmune bullous skin disease characterized by annular, grouped blisters on the skin and, frequently, mucous membranes with linear deposition of immunoglobulin A along the basement membrane zone (BMZ).",,,,,,,,, +GARD:18835,Active,Orphanet,ORPHA:48435,Disorder,[Disease],Postinfectious vasculitis,,"Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.",,,,,,,,, +GARD:18836,Active,Orphanet,ORPHA:48736,Subtype of disorder,[Clinical subtype],Embryonal carcinoma of the central nervous system,[Embryonal carcinoma of the CNS],,,,,,,,,, +GARD:18837,Active,Orphanet,ORPHA:48918,Disorder,[Disease],Focal myositis,"[Focal nodular myositis, Inflammatory pseudotumor of skeletal muscle]",A rare idiopathic inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.,,,,,,,,, +GARD:18838,Active,Orphanet,ORPHA:49566,Disorder,[Disease],Acquired purpura fulminans,,"A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. It may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of the disorder that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic purpura fulminans.",,,,,,,,, +GARD:18839,Active,Orphanet,ORPHA:49804,Disorder,[Disease],Lichen amyloidosis,"[Amyloid lichen, Lichen amyloidosus]","Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.",,,,,,,,, +GARD:1884,Legacy,GARD,,,,,,,,,,,,Distal arthrogryposis Moore Weaver type,TRUE,FALSE,Retired +GARD:18840,Active,Orphanet,ORPHA:50810,Disorder,[Malformation syndrome],Microlissencephaly-micromelia syndrome,[Basel-Vanagaite-Sirota syndrome],"Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.",,,,,,,,, +GARD:18841,Active,Orphanet,ORPHA:50812,Disorder,[Disease],Zellweger-like syndrome without peroxisomal anomalies,[Ahn-Lerman-Sagie syndrome],"Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.",,,,,,,,, +GARD:18842,Active,Orphanet,ORPHA:50817,Disorder,[Disease],Duane anomaly-myopathy-scoliosis syndrome,[Verloes-Deprez syndrome],"Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.",,,,,,,,, +GARD:18843,Active,Orphanet,ORPHA:51890,Disorder,[Disease],Anterior cutaneous nerve entrapment syndrome,"[ACNES, Intercostal nerve syndrome, Rectus abdominis syndrome]",A chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.,,,,,,,,, +GARD:18844,Active,Orphanet,ORPHA:52759,Group of disorders,[Category],Vasculitis,[Systemic vasculitis],"Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease; see these terms), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis; see these terms). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behçet disease, see this term) to relatively minor skin disease.",,,,,,,,, +GARD:18845,Active,Orphanet,ORPHA:52994,Disorder,[Disease],Orbital leiomyoma,,"Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.",,,,,,,,, +GARD:18846,Active,Orphanet,ORPHA:54247,Disorder,[Disease],Posterior cortical atrophy,"[Benson syndrome, Biparietal Alzheimer disease, PCA]","A rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions.",,,,,,,,, +GARD:18847,Active,Orphanet,ORPHA:54272,Disorder,[Disease],Hepatocellular adenoma,,Hepatocellular adenoma (HA) is a rare benign tumor of the liver.,,,,,,,,, +GARD:18848,Active,Orphanet,ORPHA:54368,Disorder,[Disease],Sarcocystosis,[Sarcosporidiosis],"A rare parasitic disease characterized by infection with sarcocystis species with humans as definitive (intestinal sarcocystosis) or aberrant intermediate (muscular sarcocystosis with development of sarcocysts in myocytes of skeletal, cardiac, and smooth muscle) host. Enteric infection is often mild or asymptomatic but may cause symptomatic enteritis with nausea, abdominal pain, diarrhea, and vomiting. Symptoms of muscular sarcocystosis include fever, fatigue, headache, cough, myalgia, and arthralgia, among others, with the possibility of a long-lasting, waxing and waning course.",,,,,,,,, +GARD:18849,Active,Orphanet,ORPHA:55655,Disorder,[Disease],Pneumococcal meningitis,,"A rare infectious disease of the nervous system caused by the bacterium Streptococcus pneumoniae, which is commonly part of the bacterial flora colonizing the nasopharyngeal mucosa. The disease is clinically characterized by typical symptoms of acute leptomeningitis, like fever, headache, neck stiffness, vomiting, and clouding of consciousness. It is frequently fatal and, in surviving patients, often accompanied by long-term sequelae, especially focal neurological deficits, hearing loss, cognitive impairment, and epilepsy.",,,,,,,,, +GARD:18850,Active,Orphanet,ORPHA:56044,Group of disorders,[Clinical group],Carcinoma of gallbladder and extrahepatic biliary tract,[Carcinoma of gallbladder and EBT],"Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.",,,,,,,,, +GARD:18851,Active,Orphanet,ORPHA:56970,Group of disorders,[Category],Human prion disease,"[TSE, Transmissible spongiform encephalopathy]","A group of rare neurodegenerative diseases characterized by the accumulation of prions, abnormal variants of the cellular prion protein, primarily in brain tissue of affected individuals, as well as massive, rapid neuronal death, and an invariably fatal course. Human prion diseases most often occur sporadically but may also be of genetic origin or infectiously acquired. Irrespective of etiology, they are transmissible to other individuals.",,,,,,,,, +GARD:18852,Active,Orphanet,ORPHA:57777,Disorder,[Disease],Cirrhotic cardiomyopathy,,"Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.",,,,,,,,, +GARD:18853,Active,Orphanet,ORPHA:57782,Disorder,[Malformation syndrome],Mazabraud syndrome,[Myxoma with fibrous dysplasia],"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.",,,,,,,,, +GARD:18854,Active,Orphanet,ORPHA:58040,Disorder,[Disease],Osteoblastoma,,"A rare, neoplastic disease characterized by a typically benign, locally aggressive, non self-limiting, osteoblastic bone tumor, usually located on the spine, proximal humerus and hip (although any bone may be involved), generally manifesting with slowly progressive, dull aching pain which is difficult to localize and is not relieved by nonsteroidal anti-inflammatory drugs or aspirin. Neurologic symptoms, such as cranial nerve palsies, myelopathy, neuralgia, radiculopathy, paraparesis or paraplegia, may be associated if the spine is involved. Imaging reveals a lytic (or mixed lytic and blastic) lesion with a radiolucent nidus (> 2 cm) associated with reactive sclerotic bone.",,,,,,,,, +GARD:18855,Active,Orphanet,ORPHA:59315,Disorder,[Malformation syndrome],Rhombencephalosynapsis,,"A rare cerebellar malformation characterized by congenital complete or partial fusion of the cerebellar hemispheres, dentate nuclei, and middle cerebellar peduncles, and complete or partial absence of the vermis. It may occur as an isolated anomaly or together with other malformations of the brain and is associated with variable clinical manifestations including developmental delay, ataxia, dysarthria, oculomotor abnormalities, seizures, and involuntary head movements, among others.",,,,,,,,, +GARD:18856,Active,Orphanet,ORPHA:60014,Disorder,[Disease],Argyria,[Silver staining],"A rare dermatosis, which can be either localized or generalized, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).",,,,,,,,, +GARD:18857,Active,Orphanet,ORPHA:63443,Group of disorders,[Category],Rare epithelial tumor of stomach,[Rare gastric epithelial tumor],,,,,,,,,, +GARD:18858,Active,Orphanet,ORPHA:63455,Disorder,[Disease],Paraneoplastic pemphigus,,"A rare form of autoimmune bullous skin disease characterized by polyformative skin lesions, typically beginning on the oral mucus membranes, and generally associated with lymphoma or chronic lymphoid leukemia.",,,,,,,,, +GARD:18859,Active,Orphanet,ORPHA:64542,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Kennedy-Teebi type",[Kennedy-Teebi syndrome],"A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.",,,,,,,,, +GARD:1886,Active,Orphanet,ORPHA:98912,Disorder,[Disease],"Late-onset distal myopathy, Markesbery-Griggs type",[ZASP-related myofibrillar myopathy],"A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.",[609452],,,,,"Late-onset distal myopathy, Markesbery-Griggs type",TRUE,FALSE,Active +GARD:18860,Active,Orphanet,ORPHA:64545,Disorder,[Disease],Benign idiopathic neonatal seizures,"[BINS, Benign nonfamilial neonatal seizures]","A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.",,,,,,,,, +GARD:18861,Active,Orphanet,ORPHA:64692,Disorder,[Disease],Oroya fever,"[Bartonellosis due to Bartonella bacilliformis infection, Carrion disease]",,,,,,,,,, +GARD:18862,Active,Orphanet,ORPHA:64694,Disorder,[Disease],Trench fever,[Bartonellosis due to Bartonella quintana infection],"A rare bacterial infectious disease caused by the louse-borne bacterium Bartonella quintana and characterized by a variable clinical picture with acute or insidious onset of a (potentially relapsing) febrile illness, headache, leg pain (most typically the shinbone), endocarditis, and thrombocytopenia. There may also be only non-specific symptoms that mimic other infections. The disease nowadays most commonly affects socially disadvantaged persons in urban areas.",,,,,,,,, +GARD:18863,Active,Orphanet,ORPHA:64722,Disorder,[Disease],Granulomatous mastitis,[Idiopathic granulomatous mastitis],"A rare gynecologic or obstetric disease characterized by a painful, palpable breast mass with relative sparing of the subareolar regions, often associated with inflammation of the overlying skin and accompanied by axillary lymphadenopathy. It usually occurs in young parous women with a history of breast-feeding. The diagnosis of idiopathic granulomatous mastitis requires that other granulomatous lesions in the breast be excluded.",,,,,,,,, +GARD:18864,Active,Orphanet,ORPHA:64741,Disorder,[Disease],Pulmonary blastoma,[Pneumoblastoma],"A biphasic primary lung neoplasm, belonging to the group of sarcomatoid lung carcinomas (SLCs). The tumor contains both an epithelial well-differentiated component, showing tubular architecture resembling the normal fetal lung, and a mesenchymal undifferentiated stroma with a so-called ''blastema-like'' configuration that resembles an embryonic lung.",,,,,,,,, +GARD:18865,Active,Orphanet,ORPHA:64743,Subtype of disorder,[Histopathological subtype],Hepatoportal sclerosis,[Obliterative portal venopathy],"A form of portosinusoidal vascular disease characterized histologically by varying degrees of phlebosclerosis, primarily involving the small and medium branches of the portal vein with heterogeneous distribution, in the absence of cirrhosis.",,,,,,,,, +GARD:18866,Active,Orphanet,ORPHA:64744,Subtype of disorder,[Clinical subtype],IgG4-related thyroid disease,"[Riedel disease, Riedel thyroiditis]","A fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficul¼ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.",,,,,,,,, +GARD:18867,Active,Orphanet,ORPHA:65681,Disorder,[Morphological anomaly],Vaginal atresia,,"A rare vaginal malformation characterized by congenital uterovaginal outflow tract obstruction due to failure of the urogenital sinus to form the caudal aspect of the vagina, which is then replaced by fibrous tissue. The malformation may occur as an isolated developmental defect or in association with other anomalies, such as cervical agenesis, imperforate hymen, and bicornuate bicervical uterus. Presenting signs and symptoms include primary amenorrhea, cyclic pelvic pain, abdominal pain, dyspareunia, pelvic mass, menstrual disorder, and periodic fever.",,,,,,,,, +GARD:18868,Active,Orphanet,ORPHA:66518,Disorder,[Disease],Short fifth metacarpals-insulin resistance syndrome,,"A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome.",,,,,,,,, +GARD:18869,Active,Orphanet,ORPHA:66633,Disorder,[Disease],Sensorineural hearing loss-early graying-essential tremor syndrome,[Sensorineural deafness-early graying-essential tremor syndrome],"A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.",,,,,,,,, +GARD:1887,Active,Orphanet,ORPHA:600,Disorder,[Disease],Vocal cord and pharyngeal distal myopathy,"[Distal myopathy with vocal cord weakness, MATR3-related distal myopathy, VCPDM]",Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.,[606070],,,,,Distal myopathy with vocal cord weakness,TRUE,FALSE,Active +GARD:18870,Active,Orphanet,ORPHA:66661,Disorder,[Disease],Mast cell sarcoma,,"Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase.",,,,,,,,, +GARD:18871,Active,Orphanet,ORPHA:66662,Disorder,[Disease],Extracutaneous mastocytoma,,"A rare neoplastic disease characterized by a localized, unifocal, low-grade tumor composed of mature mast cells, without evidence of systemic mastocytosis or skin lesions. The tumor most commonly arises in the lung and shows a non-destructive growth pattern.",,,,,,,,, +GARD:18872,Active,Orphanet,ORPHA:67039,Disorder,[Disease],Segmental odontomaxillary dysplasia,,"Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.",,,,,,,,, +GARD:18873,Active,Orphanet,ORPHA:68334,Group of disorders,[Category],Rare hemorrhagic disorder due to a constitutional coagulation factors defect,"[Rare bleeding disorder due to a constitutional coagulation factors defect, Rare coagulopathy due to a constitutional coagulation factors defect]",,,,,,,,,, +GARD:18874,Active,Orphanet,ORPHA:68335,Group of disorders,[Category],Rare chromosomal anomaly,,,,,,,,,,, +GARD:18875,Active,Orphanet,ORPHA:68336,Group of disorders,[Category],Rare genetic tumor,,,,,,,,,,, +GARD:18876,Active,Orphanet,ORPHA:68341,Group of disorders,[Category],Multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:18877,Active,Orphanet,ORPHA:68346,Group of disorders,[Category],Rare genetic skin disease,[Rare genodermatosis],,,,,,,,,, +GARD:18878,Active,Orphanet,ORPHA:68347,Group of disorders,[Category],Tumor of hematopoietic and lymphoid tissues,,,,,,,,,,, +GARD:18879,Active,Orphanet,ORPHA:68354,Group of disorders,[Category],Rare sleep disorder,,,,,,,,,,, +GARD:18880,Active,Orphanet,ORPHA:68361,Group of disorders,[Category],Rare deafness,[Rare hearing loss],,,,,,,,,, +GARD:18881,Active,Orphanet,ORPHA:68362,Group of disorders,[Category],Rare vascular disease,,,,,,,,,,, +GARD:18882,Active,Orphanet,ORPHA:68363,Group of disorders,[Category],Rare dystonia,[Rare dystonic disorder],,,,,,,,,, +GARD:18883,Active,Orphanet,ORPHA:68364,Group of disorders,[Category],Hemoglobinopathy,,,,,,,,,,, +GARD:18884,Active,Orphanet,ORPHA:68366,Group of disorders,[Category],Lysosomal disease,,,,,,,,,,, +GARD:18885,Active,Orphanet,ORPHA:68373,Group of disorders,[Category],Peroxisomal disease,,,,,,,,,,, +GARD:18886,Active,Orphanet,ORPHA:68378,Group of disorders,[Category],Congenital limb malformation,,,,,,,,,,, +GARD:18887,Active,Orphanet,ORPHA:68380,Group of disorders,[Category],Mitochondrial disease,,,,,,,,,,, +GARD:18888,Active,Orphanet,ORPHA:68381,Group of disorders,[Category],Neuromuscular disease,,,,,,,,,,, +GARD:18889,Active,Orphanet,ORPHA:68383,Group of disorders,[Category],Rare constitutional aplastic anemia,,,,,,,,,,, +GARD:1889,Legacy,GARD,,,,,,,,,,,,"Distal primary acidosis, familial",TRUE,FALSE,Active +GARD:18890,Active,Orphanet,ORPHA:68385,Group of disorders,[Category],Neurometabolic disease,,,,,,,,,,, +GARD:18891,Active,Orphanet,ORPHA:68402,Group of disorders,[Category],Rare parkinsonian disorder,[Rare hypokinetic movement disorder],,,,,,,,,, +GARD:18892,Active,Orphanet,ORPHA:68411,Group of disorders,[Category],Rare bone tumor,,,,,,,,,,, +GARD:18893,Active,Orphanet,ORPHA:68415,Group of disorders,[Category],Rare parathyroid disease and phosphocalcic metabolism anomaly,,,,,,,,,,, +GARD:18894,Active,Orphanet,ORPHA:68419,Group of disorders,[Category],Vascular anomaly or angioma,,,,,,,,,,, +GARD:18895,Active,Orphanet,ORPHA:69028,Group of disorders,[Category],Dysostosis with brachydactyly,,"Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.",,,,,,,,, +GARD:18896,Active,Orphanet,ORPHA:69063,Disorder,[Disease],Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,"[Alloimmune neonatal renal disease, FMAIG, Fetomaternal alloimmunization with antenatal glomerulopathies, Neonatal glomerulopathy due to neprilysin alloimmunization, Neonatal membranous glomerulopathy with maternal NEP deficiency, Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency]","A rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunization characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life.",,,,,,,,, +GARD:18897,Active,Orphanet,ORPHA:69736,Disorder,[Disease],Bilateral acute depigmentation of the iris,[BADI],"Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.",,,,,,,,, +GARD:18898,Active,Orphanet,ORPHA:69744,Disorder,[Disease],Circumscribed palmoplantar hypokeratosis,,"Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin.",,,,,,,,, +GARD:18899,Active,Orphanet,ORPHA:69745,Disorder,[Disease],Warty dyskeratoma,[Follicular dyskeratoma],"A rare, benign, epidermal disease characterized by a solitary, asymptomatic, verrucous, skin-coloured to red-brown papule or nodule, which contains a central pore and keratotic plug, occuring most frequently on the scalp, face and neck (rarely, in the mouth, under the nail plate or on the mons pubis). Occasionally, lesions may be multiple and/or pruritic. Histologically, a well-circumscribed, cup-shaped, keratin-filled invagination, with prominent acantholytic dyskeratosis, suprabasilar clefts and villi projecting into the clefts, is observed.",,,,,,,,, +GARD:189,Legacy,GARD,,,,,,,,,,,,Elliott Ludman Teebi syndrome,TRUE,FALSE,Active +GARD:1890,Legacy,GARD,,,,,,,,,,,,Distichiasis heart congenital anomalies,TRUE,FALSE,Active +GARD:18900,Active,Orphanet,ORPHA:70475,Disorder,[Disease],Radiation proctitis,,"Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.",,,,,,,,, +GARD:18901,Active,Orphanet,ORPHA:99977,Disorder,[Disease],Squamous cell carcinoma of the esophagus,"[ESCC, Esophageal epidermoid carcinoma, Esophageal squamous cell carcinoma]","Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.",[133239],,,,,,,, +GARD:18902,Active,Orphanet,ORPHA:70578,Disorder,[Disease],Adult acute respiratory distress syndrome,[Adult ARDS],"A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.",,,,,,,,, +GARD:18903,Active,Orphanet,ORPHA:70596,Disorder,[Disease],Congenital Epstein-Barr virus infection,"[Antenatal EBV infection, Antenatal Epstein-Barr virus infection, Congenital EBV infection, Mother-to-child transmission of Epstein-Barr virus infection]","A rare infectious disease that causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.",,,,,,,,, +GARD:18904,Active,Orphanet,ORPHA:71198,Group of disorders,[Category],Rare pulmonary hypertension,,,,,,,,,,, +GARD:18905,Active,Orphanet,ORPHA:71202,Group of disorders,[Category],Rare hemorrhagic disorder due to a constitutional platelet anomaly,"[Rare bleeding disorder due to a constitutional platelet anomaly, Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia, Rare coagulopathy due to a constitutional platelet anomaly, Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia, Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia]",,,,,,,,,, +GARD:18906,Active,Orphanet,ORPHA:71203,Group of disorders,[Clinical group],Autoimmune thrombocytopenia,,,,,,,,,,, +GARD:18907,Active,Orphanet,ORPHA:71209,Group of disorders,[Category],Rare soft tissue tumor,[Rare mesenchymal tumor],,,,,,,,,, +GARD:18908,Active,Orphanet,ORPHA:71213,Disorder,[Disease],Retinal capillary malformation,,"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.",,,,,,,,, +GARD:18909,Active,Orphanet,ORPHA:71267,Disorder,[Malformation syndrome],Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,[Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome],"A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.",,,,,,,,, +GARD:1891,Active,Orphanet,ORPHA:1685,Disorder,[Disease],Distomatosis,"[Distomiasis, Fluke infection]","A group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.",,,,,,Distomatosis,TRUE,FALSE,Active +GARD:18910,Active,Orphanet,ORPHA:71276,Disorder,[Disease],Silent sinus syndrome,[Imploding antrum syndrome],Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.,,,,,,,,, +GARD:18911,Active,Orphanet,ORPHA:71281,Group of disorders,[Category],Rare central nervous system and retinal vascular disease,,,,,,,,,,, +GARD:18912,Active,Orphanet,ORPHA:71505,Disorder,[Disease],Cancer-associated retinopathy,"[CAR syndrome, Paraneoplastic retinopathy]",Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.,,,,,,,,, +GARD:18913,Active,Orphanet,ORPHA:71518,Disorder,[Disease],Benign paroxysmal torticollis of infancy,,"A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollic posturing of the head between infancy and early-childhood.",,,,,,,,, +GARD:18914,Active,Orphanet,ORPHA:71519,Disorder,[Clinical syndrome],Psychogenic movement disorders,[Psychogenic dystonia],"A rare neurologic disease characterized by the manifestation of an underlying psychiatric illness or malingering, and that cannot be attributed to any known structural or neurochemical diseases. Most cases fall in the psychiatric diagnostic category of conversion disorder, also referred to as functional neurological symptom disorder.",,,,,,,,, +GARD:18915,Active,Orphanet,ORPHA:71859,Group of disorders,[Category],Rare genetic neurological disorder,,,,,,,,,,, +GARD:18916,Active,Orphanet,ORPHA:71862,Group of disorders,[Category],Inherited retinal disorder,[Retinal dystrophy],,,,,,,,,, +GARD:18917,Active,Orphanet,ORPHA:71864,Group of disorders,[Category],Muscular channelopathy,,,,,,,,,,, +GARD:18918,Active,Orphanet,ORPHA:73014,Group of disorders,[Category],Intractable diarrhea of infancy,[IDI],"Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different etiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.",,,,,,,,, +GARD:18919,Active,Orphanet,ORPHA:73223,Disorder,[Malformation syndrome],Global developmental delay-osteopenia-ectodermal defect syndrome,,"A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described.",,,,,,,,, +GARD:18920,Active,Orphanet,ORPHA:73224,Disorder,[Disease],Kidney tubulopathy-dilated cardiomyopathy syndrome,,"A rare renal disease characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.",,,,,,,,, +GARD:18921,Active,Orphanet,ORPHA:73230,Disorder,[Disease],Ossification anomalies-psychomotor developmental delay syndrome,,"A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia.",,,,,,,,, +GARD:18922,Active,Orphanet,ORPHA:73245,Disorder,[Malformation syndrome],Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome,,"A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.",,,,,,,,, +GARD:18923,Active,Orphanet,ORPHA:73246,Disorder,[Malformation syndrome],Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported.",,,,,,,,, +GARD:18924,Active,Orphanet,ORPHA:75110,Group of disorders,[Category],Myiasis,,,,,,,,,,, +GARD:18925,Active,Orphanet,ORPHA:75378,Disorder,[Disease],Oligocone trichromacy,[Oligocone syndrome],"A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal.",,,,,,,,, +GARD:18926,Active,Orphanet,ORPHA:75389,Disorder,[Malformation syndrome],Brain malformation-congenital heart disease-postaxial polydactyly syndrome,[Goossens-Devriendt syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuropituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported.",,,,,,,,, +GARD:18927,Active,Orphanet,ORPHA:75508,Disorder,[Malformation syndrome],Angioosteohypotrophic syndrome,"[Phlebectatic osteohypoplastic angiodysplasia, Servelle-Martorell syndrome]","A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.",,,,,,,,, +GARD:18928,Active,Orphanet,ORPHA:75565,Disorder,[Disease],Tropical endomyocardial fibrosis,"[Davies disease, TEMF]","Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.",,,,,,,,, +GARD:18929,Active,Orphanet,ORPHA:75566,Disorder,[Disease],Loeffler endocarditis,[Eosinophilic endocarditis],"A rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.",,,,,,,,, +GARD:18930,Active,Orphanet,ORPHA:75567,Disorder,[Clinical syndrome],Primary progressive freezing gait,[PPFG],"Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.",,,,,,,,, +GARD:18931,Active,Orphanet,ORPHA:75857,Disorder,[Malformation syndrome],6q terminal deletion syndrome,,"A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association.",,,,,,,,, +GARD:18932,Active,Orphanet,ORPHA:77240,Group of disorders,[Category],Primary lymphedema,,"Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphoangiogenesis). It can be hereditary or not and be congenital or late onset.",,,,,,,,, +GARD:18933,Active,Orphanet,ORPHA:77300,Disorder,[Malformation syndrome],Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities.",,,,,,,,, +GARD:18934,Active,Orphanet,ORPHA:77301,Disorder,[Malformation syndrome],Monosomy 9q22.3,[Microdeletion 9q22.3],"Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.",,,,,,,,, +GARD:18935,Active,Orphanet,ORPHA:77828,Group of disorders,[Category],Genetic obesity,,,,,,,,,,, +GARD:18936,Active,Orphanet,ORPHA:77830,Group of disorders,[Category],Rare genetic odontologic disease,,,,,,,,,,, +GARD:18937,Active,Orphanet,ORPHA:79062,Group of disorders,[Category],Disorder of amino acid and other organic acid metabolism,,,,,,,,,,, +GARD:18938,Active,Orphanet,ORPHA:79097,Disorder,[Disease],Folinic acid-responsive seizures,,"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.",,,,,,,,, +GARD:18939,Active,Orphanet,ORPHA:79098,Disorder,[Disease],Sympathetic ophthalmia,[Sympathetic uveitis],Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.,,,,,,,,, +GARD:1894,Active,Orphanet,ORPHA:3439,Disorder,[Malformation syndrome],Von Voss-Cherstvoy syndrome,"[DK phocomelia syndrome, Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome]","Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.",[223340],,,,,DK phocomelia syndrome,TRUE,FALSE,Active +GARD:18940,Active,Orphanet,ORPHA:79099,Disorder,[Disease],Interstitial granulomatous dermatitis with arthritis,"[Ackerman dermatitis syndrome, Ackerman syndrome, IGDA]","Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.",,,,,,,,, +GARD:18941,Active,Orphanet,ORPHA:79105,Disorder,[Disease],Myxofibrosarcoma,"[Fibromyxosarcoma, Myxoid malignant fibrous histiocytoma]","A rare soft tissue sarcoma characterized by a malignant, fibroblastic lesion with variably myxoid stroma, pleomorphism, and a distinctively curvilinear vascular pattern. The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. Depth of the lesion and tumor grade do not influence the high rate of local recurrence, while the percentage of metastasis and tumor-associated mortality are much higher in deep-seated and high-grade neoplasms.",,,,,,,,, +GARD:18942,Active,Orphanet,ORPHA:79127,Disorder,[Disease],Respiratory bronchiolitis-interstitial lung disease syndrome,[RB-ILD],"Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.",,,,,,,,, +GARD:18943,Active,Orphanet,ORPHA:79129,Disorder,[Malformation syndrome],Trichodysplasia-amelogenesis imperfecta syndrome,,A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993.,,,,,,,,, +GARD:18944,Active,Orphanet,ORPHA:79138,Disorder,[Disease],Bickerstaff brainstem encephalitis,,"Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).",,,,,,,,, +GARD:18945,Active,Orphanet,ORPHA:79158,Group of disorders,[Category],Cerebral organic aciduria,,,,,,,,,,, +GARD:18946,Active,Orphanet,ORPHA:79161,Group of disorders,[Category],Disorder of carbohydrate metabolism,,,,,,,,,,, +GARD:18947,Active,Orphanet,ORPHA:79163,Group of disorders,[Category],Classic organic aciduria,,,,,,,,,,, +GARD:18948,Active,Orphanet,ORPHA:79166,Group of disorders,[Category],Disorder of amino acid absorption and transport,,,,,,,,,,, +GARD:18949,Active,Orphanet,ORPHA:79168,Group of disorders,[Category],Disorder of bile acid synthesis,,"A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.",,,,,,,,, +GARD:1895,Legacy,GARD,,,,,,,,,,,,Dobrow syndrome,TRUE,FALSE,Active +GARD:18950,Active,Orphanet,ORPHA:79169,Group of disorders,[Category],Disorder of neurotransmitter metabolism and transport,,,,,,,,,,, +GARD:18951,Active,Orphanet,ORPHA:79171,Group of disorders,[Category],Disorder of cobalamin metabolism and transport,,,,,,,,,,, +GARD:18952,Active,Orphanet,ORPHA:79172,Group of disorders,[Clinical group],Creatine deficiency syndrome,"[CCDS, CDS, Cerebral creatine deficiency syndrome]","Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.",,,,,,,,, +GARD:18953,Active,Orphanet,ORPHA:79173,Group of disorders,[Category],Disorder of methionine cycle and sulfur amino acid metabolism,[Cytosolic methyl group transfer or sulfur amino acid metabolism disorder],,,,,,,,,, +GARD:18954,Active,Orphanet,ORPHA:79174,Group of disorders,[Category],Disorder of fatty acid oxidation and ketone body metabolism,,,,,,,,,,, +GARD:18955,Active,Orphanet,ORPHA:79175,Group of disorders,[Category],Disorder of gamma-aminobutyric acid metabolism,[Disorder of GABA metabolism],,,,,,,,,, +GARD:18956,Active,Orphanet,ORPHA:79177,Group of disorders,[Category],Gluconeogenesis disorder,,,,,,,,,,, +GARD:18957,Active,Orphanet,ORPHA:79178,Group of disorders,[Category],Glucose transport disorder,,,,,,,,,,, +GARD:18958,Active,Orphanet,ORPHA:79179,Group of disorders,[Category],Disorder of glycerol metabolism,,,,,,,,,,, +GARD:18959,Active,Orphanet,ORPHA:79181,Group of disorders,[Category],Disorder of histidine metabolism,,,,,,,,,,, +GARD:1896,Active,Orphanet,ORPHA:2014,Group of disorders,[Clinical group],Cleft palate,,A fissure type embryopathy that affects the soft and hard palate to varying degrees.,[119540],,,,,Dominant cleft palate,TRUE,FALSE,Active +GARD:18960,Active,Orphanet,ORPHA:79183,Group of disorders,[Category],Disorder of ketolysis,,,,,,,,,,, +GARD:18961,Active,Orphanet,ORPHA:79185,Group of disorders,[Category],Disorder of ornithine or proline metabolism,,,,,,,,,,, +GARD:18962,Active,Orphanet,ORPHA:79186,Group of disorders,[Category],Disorder of pentose phosphate metabolism,,,,,,,,,,, +GARD:18963,Active,Orphanet,ORPHA:79187,Group of disorders,[Category],Disorder of peptide metabolism,,,,,,,,,,, +GARD:18964,Active,Orphanet,ORPHA:79190,Group of disorders,[Category],Disorder of phenylalanin or tyrosine metabolism,,,,,,,,,,, +GARD:18965,Active,Orphanet,ORPHA:79191,Group of disorders,[Category],Disorder of purine metabolism,,,,,,,,,,, +GARD:18966,Active,Orphanet,ORPHA:79192,Group of disorders,[Category],Disorder of pyridoxine metabolism,,,,,,,,,,, +GARD:18967,Active,Orphanet,ORPHA:79193,Group of disorders,[Category],Disorder of pyrimidine metabolism,,,,,,,,,,, +GARD:18968,Active,Orphanet,ORPHA:79194,Group of disorders,[Category],Disorder of serine or glycine metabolism,,,,,,,,,,, +GARD:18969,Active,Orphanet,ORPHA:79195,Group of disorders,[Category],Sterol biosynthesis disorder,,,,,,,,,,, +GARD:1897,Legacy,GARD,,,,,,,,,,,,Dominant ichthyosis vulgaris,TRUE,FALSE,Retired +GARD:18970,Active,Orphanet,ORPHA:79196,Group of disorders,[Category],Disorder of the gamma-glutamyl cycle,,,,,,,,,,, +GARD:18971,Active,Orphanet,ORPHA:79197,Group of disorders,[Category],Disorder of branched-chain amino acid metabolism,,,,,,,,,,, +GARD:18972,Active,Orphanet,ORPHA:79200,Group of disorders,[Category],Disorder of energy metabolism,,,,,,,,,,, +GARD:18973,Active,Orphanet,ORPHA:79201,Group of disorders,[Category],Glycogen storage disease,"[GSD, Glycogenosis]",,,,,,,,,, +GARD:18974,Active,Orphanet,ORPHA:79207,Group of disorders,[Category],Disorder of lysosomal amino acid transport,,,,,,,,,,, +GARD:18975,Active,Orphanet,ORPHA:79212,Group of disorders,[Category],Mucolipidosis,,,,,,,,,,, +GARD:18976,Active,Orphanet,ORPHA:79214,Group of disorders,[Category],Disorder of biogenic amine metabolism and transport,,,,,,,,,,, +GARD:18977,Active,Orphanet,ORPHA:79215,Group of disorders,[Category],Oligosaccharidosis,,,,,,,,,,, +GARD:18978,Active,Orphanet,ORPHA:79217,Group of disorders,[Category],Other metabolic disease with skin involvement,,,,,,,,,,, +GARD:18979,Active,Orphanet,ORPHA:79219,Group of disorders,[Category],Metabolic disease involving other neurotransmitter deficiency,,,,,,,,,,, +GARD:1898,Active,Orphanet,ORPHA:98995,Subtype of disorder,[Clinical subtype],Early-onset zonular cataract,,,"[613763, 609376, 605728, 116400, 610019, 607304]",,,,,Early-onset zonular cataract,TRUE,FALSE,Active +GARD:18980,Active,Orphanet,ORPHA:79224,Group of disorders,[Category],Disorder of purine or pyrimidine metabolism,,,,,,,,,,, +GARD:18981,Active,Orphanet,ORPHA:79226,Group of disorders,[Category],Sterol metabolism disorder,,,,,,,,,,, +GARD:18982,Active,Orphanet,ORPHA:79254,Subtype of disorder,[Clinical subtype],Classic phenylketonuria,[Classic PKU],"A severe form of phenylketonuria (PKU) due to phenylalanine hydroxylase deficiency, an inborn error of amino acid metabolism, characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.",,,,,,,,, +GARD:18983,Active,Orphanet,ORPHA:79298,Group of disorders,[Clinical group],Diazoxide-resistant focal hyperinsulinism,"[Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form]","A form of congenital diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide.",,,,,,,,, +GARD:18984,Active,Orphanet,ORPHA:79353,Group of disorders,[Category],Epidermal disease,,,,,,,,,,, +GARD:18985,Active,Orphanet,ORPHA:79354,Group of disorders,[Category],Ichthyosis,,,,,,,,,,, +GARD:18986,Active,Orphanet,ORPHA:79355,Group of disorders,[Category],Erythrokeratoderma,,,,,,,,,,, +GARD:18987,Active,Orphanet,ORPHA:79356,Group of disorders,[Category],Acrokeratoderma,,,,,,,,,,, +GARD:18988,Active,Orphanet,ORPHA:79357,Group of disorders,[Category],Hereditary palmoplantar keratoderma,"[Hereditary PPK, Hereditary keratosis palmoplantaris, Hereditary palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:18989,Active,Orphanet,ORPHA:79358,Group of disorders,[Category],Porokeratosis,,,,,,,,,,, +GARD:1899,Active,Orphanet,ORPHA:2143,Disorder,[Malformation syndrome],Donnai-Barrow syndrome,"[DBS/FOAR syndrome, Diaphragmatic hernia-exomphalos-hypertelorism syndrome, Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome, Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome, FOAR syndrome, Facio-oculo-acoustico-renal syndrome, Holmes-Schepens syndrome, Syndrome of ocular and facial anomalies, telecanthus and deafness, Syndrome of ocular and facial anomalies, telecanthus and hearing loss]","A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.",[222448],,,,,Donnai-Barrow syndrome,TRUE,FALSE,Active +GARD:18990,Active,Orphanet,ORPHA:79359,Group of disorders,[Category],Other epidermal disorder,,,,,,,,,,, +GARD:18991,Active,Orphanet,ORPHA:79360,Group of disorders,[Category],Other genetic epidermal disease,,,,,,,,,,, +GARD:18992,Active,Orphanet,ORPHA:79361,Group of disorders,[Category],Inherited epidermolysis bullosa,"[Epidermolysis bullosa hereditaria, Hereditary epidermolysis bullosa]",Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.,,,,,,,,, +GARD:18993,Active,Orphanet,ORPHA:79362,Group of disorders,[Category],Epidermal appendage anomaly,,,,,,,,,,, +GARD:18994,Active,Orphanet,ORPHA:79363,Group of disorders,[Category],Hair anomaly,,,,,,,,,,, +GARD:18995,Active,Orphanet,ORPHA:79364,Group of disorders,[Category],Alopecia,,,,,,,,,,, +GARD:18996,Active,Orphanet,ORPHA:79365,Group of disorders,[Category],Rare disorder with hypertrichosis,,,,,,,,,,, +GARD:18997,Active,Orphanet,ORPHA:79366,Group of disorders,[Category],Isolated hair shaft abnormality,,,,,,,,,,, +GARD:18998,Active,Orphanet,ORPHA:79367,Group of disorders,[Category],Syndromic hair shaft abnormality,,,,,,,,,,, +GARD:18999,Active,Orphanet,ORPHA:79368,Group of disorders,[Category],Nail anomaly,,,,,,,,,,, +GARD:19,Active,Orphanet,ORPHA:1675,Disorder,[Disease],Dihydropyrimidine dehydrogenase deficiency,[Familial pyrimidinemia],"A rare disorder of pyrimidine metabolism characterized by a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.",[274270],,,,,Dihydropyrimidine dehydrogenase deficiency,FALSE,FALSE,Active +GARD:19000,Active,Orphanet,ORPHA:79369,Group of disorders,[Category],Isolated nail anomaly,,,,,,,,,,, +GARD:19001,Active,Orphanet,ORPHA:79370,Group of disorders,[Category],Syndromic nail anomaly,,,,,,,,,,, +GARD:19002,Active,Orphanet,ORPHA:79372,Group of disorders,[Category],Sebaceous gland anomaly,,,,,,,,,,, +GARD:19003,Active,Orphanet,ORPHA:79374,Group of disorders,[Category],Pigmentation anomaly of the skin,,,,,,,,,,, +GARD:19004,Active,Orphanet,ORPHA:79375,Group of disorders,[Category],Hyperpigmentation of the skin,,,,,,,,,,, +GARD:19005,Active,Orphanet,ORPHA:79376,Group of disorders,[Category],Hypopigmentation of the skin,,,,,,,,,,, +GARD:19006,Active,Orphanet,ORPHA:79377,Group of disorders,[Category],Dermis disorder,,,,,,,,,,, +GARD:19007,Active,Orphanet,ORPHA:79378,Group of disorders,[Category],Dermis elastic tissue disorder,,,,,,,,,,, +GARD:19008,Active,Orphanet,ORPHA:79379,Group of disorders,[Category],Skin vascular disease,,,,,,,,,,, +GARD:19009,Active,Orphanet,ORPHA:79380,Group of disorders,[Category],Mixed dermis disorder,,,,,,,,,,, +GARD:19010,Active,Orphanet,ORPHA:79381,Group of disorders,[Category],Other dermis disorder,,,,,,,,,,, +GARD:19011,Active,Orphanet,ORPHA:79382,Group of disorders,[Category],Subcutaneous tissue disease,,,,,,,,,,, +GARD:19012,Active,Orphanet,ORPHA:79384,Group of disorders,[Category],Rare urticaria,,,,,,,,,,, +GARD:19013,Active,Orphanet,ORPHA:79385,Group of disorders,[Category],Unclassified genetic skin disorder,,,,,,,,,,, +GARD:19014,Active,Orphanet,ORPHA:79386,Group of disorders,[Category],Rare skin tumor or hamartoma,,,,,,,,,,, +GARD:19015,Active,Orphanet,ORPHA:79387,Group of disorders,[Category],Metabolic disease with skin involvement,,,,,,,,,,, +GARD:19016,Active,Orphanet,ORPHA:79388,Group of disorders,[Category],Mucopolysaccharidosis with skin involvement,[MPS with skin involvement],,,,,,,,,, +GARD:19017,Active,Orphanet,ORPHA:79389,Group of disorders,[Category],Premature aging,,,,,,,,,,, +GARD:19018,Active,Orphanet,ORPHA:79390,Group of disorders,[Category],Rare photodermatosis,[Rare skin photosensitivity],,,,,,,,,, +GARD:19019,Active,Orphanet,ORPHA:79391,Group of disorders,[Category],Immune deficiency with skin involvement,,,,,,,,,,, +GARD:1902,Active,Orphanet,ORPHA:101150,Disorder,[Disease],Autosomal recessive dopa-responsive dystonia,"[Autosomal recessive Segawa syndrome, DYT5b, Tyrosine hydroxylase deficiency, Tyrosine hydroxylase-deficient dopa-responsive dystonia]",A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.,[605407],,,,,Tyrosine hydroxylase deficiency,TRUE,FALSE,Active +GARD:19020,Active,Orphanet,ORPHA:79467,Subtype of disorder,[Clinical subtype],Verrucous nevus,,,,,,,,,,, +GARD:19021,Active,Orphanet,ORPHA:79479,Disorder,[Disease],Pemphigus vegetans,,"A rare autoimmune bullous skin disease characterized by mucocutaneous bullae with subsequent erosion and formation of vegetative plaques, predominantly affecting intertriginous areas and the oral mucosa. Two clinical forms of the disease are recognized: the Hallopeau type, which presents an indolent course with pustules healing as vegetative plaques and frequent lack of involvement of the oral mucosa, and the Neumann type, which takes a more severe, refractory course with vegetations developing during an eruption of vesiculobullous lesions and involvement of the oral mucosa. Serum analysis reveals antibodies against desmoglein 1 and 3.",,,,,,,,, +GARD:19022,Active,Orphanet,ORPHA:79480,Disorder,[Disease],Pemphigus erythematosus,"[Seborrheic pemphigus, Senear-Usher syndrome]","A rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.",,,,,,,,, +GARD:19023,Active,Orphanet,ORPHA:79483,Subtype of disorder,[Clinical subtype],Phakomatosis cesioflammea,[Phakomatosis pigmentovascularis type 2],,,,,,,,,, +GARD:19024,Active,Orphanet,ORPHA:79484,Subtype of disorder,[Clinical subtype],Phakomatosis cesiomarmorata,[Phakomatosis pigmentovascularis type 5],,,,,,,,,, +GARD:19025,Active,Orphanet,ORPHA:79485,Subtype of disorder,[Clinical subtype],Phakomatosis spilorosea,[Phakomatosis pigmentovascularis type 3],,,,,,,,,, +GARD:19026,Active,Orphanet,ORPHA:79492,Disorder,[Disease],Pili gemini,[Pili multigemini],"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.",,,,,,,,, +GARD:19027,Active,Orphanet,ORPHA:79651,Subtype of disorder,[Clinical subtype],Mild hyperphenylalaninemia,"[Mild HPA, Non-PKU HPA, mHPA]","A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders.",,,,,,,,, +GARD:19028,Active,Orphanet,ORPHA:79669,Group of disorders,[Clinical group],Autoimmune bullous skin disease,,,,,,,,,,, +GARD:19029,Active,Orphanet,ORPHA:83001,Group of disorders,[Category],Urogenital tract malformation,,,,,,,,,,, +GARD:1903,Active,Orphanet,ORPHA:230,Disorder,[Disease],Dopamine beta-hydroxylase deficiency,[DBH deficiency],A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.,[223360],,,,,Dopamine beta hydroxylase deficiency,TRUE,FALSE,Active +GARD:19030,Active,Orphanet,ORPHA:83312,Disorder,[Disease],Rickettsialpox,,"A rare, acquired, self-limiting, infectious disease due to the mite-borne bacteria Rickettsia akari characterized by an asymptomatic, 0.5 to 2 cm in diameter papulovesicle that typically ulcerates and forms an eschar, followed by a generalized papulovesicular rash associating variable constitutional symptoms, such as localized lymphadenopathy, fever, malaise, and headaches. Additonal symptoms may include diaphoresis, myalgia and, less frequently, rhinorrhea, pharyngitis, nausea, vomiting, splenomegaly, conjunctival hyperemia, and abdominal pain. Systemic symptoms resolve within 6-10 days.",,,,,,,,, +GARD:19031,Active,Orphanet,ORPHA:83313,Disorder,[Disease],Boutonneuse fever,[Mediterranean spotted fever],"A rare spotted fever rickettsiosis caused by infection with the tick-borne bacterium Rickettsia conorii, characterized by the onset of fever after an incubation period of about a week, followed by a centripetally spreading maculopapular rash, which may evolve into a petechial form. Accompanying symptoms are headaches, myalgia and/or arthralgia, among others. The typical ''tache noire'' may be observed at the site of the tick bite for several days. The disease is endemic in Africa, Southern Europe, and India.",,,,,,,,, +GARD:19032,Active,Orphanet,ORPHA:83314,Disorder,[Disease],Epidemic typhus,,"A Rickettsial disease characterized by malaise and vague symptoms before the onset of high fever, headache, severe myalgias and less commonly petechial rash on the trunk and limbs, nausea, vomiting, coughing and pneumonia. Most patients also have some central nervous system disturbances, such as meningeal irritation, confusion, drowsiness, seizures, coma, and hearing loss.",,,,,,,,, +GARD:19033,Active,Orphanet,ORPHA:83315,Disorder,[Disease],Murine typhus,"[Endemic typhus, Flea-borne typhus]","A Rickettsial disease characterized by headache, fever and macular or maculopapular rash, with only one-third of patients manifesting all three symptoms. Other common symptoms are chills, malaise, stomach pain, myalgia, loss of appetite, and in some cases confusion and altered level of consciousness. Classical laboratory abnormalities include elevated liver enzymes, lactate dehydrogenase, erythrocyte sedimentation rate and hypoalbuminemia. In children, typical symptoms occur in only half of patients, and abdominal pain, diarrhea, sore throat and anemia are more common.",,,,,,,,, +GARD:19034,Active,Orphanet,ORPHA:83316,Disorder,[Disease],Pseudotyphus of California,,"Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain). Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.",,,,,,,,, +GARD:19035,Active,Orphanet,ORPHA:83317,Disorder,[Disease],Scrub typhus,"[Tsutsugamushi disease, Tsutsugamushi fever]",Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.,,,,,,,,, +GARD:19036,Active,Orphanet,ORPHA:83450,Disorder,[Disease],Regional odontodysplasia,[Ghost teeth],Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.,,,,,,,,, +GARD:19037,Active,Orphanet,ORPHA:83453,Disorder,[Disease],Vulvovaginal gingival syndrome,,"A rare, non-malformative vulvovaginal disease characterized by a combination of erosive or desquamative lichen planus (LP) of vulval, vaginal and gingival mucosae, with a high propensity for scarring and stricture formation. Additional sites of involvement are frequently observed (in particular, tongue, buccal mucosae, skin and perianal LP). Patients may be asymptomatic or, more commonly, present with pain, burning, discomfort and bleeding, dyspareunia, and seropurulent vaginal discharge.",,,,,,,,, +GARD:19038,Active,Orphanet,ORPHA:83465,Disorder,[Disease],Narcolepsy type 2,[Narcolepsy without cataplexy],"A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and sometimes sleep paralysis, and hypnagogic/hypnopompic hallucinations.",,,,,,,,, +GARD:19039,Active,Orphanet,ORPHA:83468,Disorder,[Disease],Solitary bone cyst,[Unicameral bone cyst],"A benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.",,,,,,,,, +GARD:1904,Active,Orphanet,ORPHA:99796,Disorder,[Morphological anomaly],Subcortical band heterotopia,[Subcortical laminar heterotopia],"A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems.","[600348, 300067, 607432]",,,,,Subcortical band heterotopia,TRUE,FALSE,Active +GARD:19040,Active,Orphanet,ORPHA:83482,Disorder,[Disease],Mycoplasma encephalitis,,"Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).",,,,,,,,, +GARD:19041,Active,Orphanet,ORPHA:83484,Disorder,[Disease],St. Louis encephalitis,[Saint Louis encephalitis],"An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, and characterized by the onset of flulike symptoms such as fever, malaise, headache, cough, and sore throat that can progress to meningitis or encephalitis with symptoms like nausea, vomiting, confusion, stiff neck, disorientation, irritability, tremors, and convulsions. Photophobia, cranial nerve palsies, and even coma may occur.",,,,,,,,, +GARD:19042,Active,Orphanet,ORPHA:83595,Disorder,[Disease],Colorado tick fever,"[American mountain fever, Colorado tick encephalitis, Colorado tick-borne disease, Mountain fever, Mountain tick fever]","An acute arboviral infection caused by a Coltivirus transmitted by an infected tick and characterized by a biphasic fever with headache, myalgias, arthralgias, and fatigue that can last 3 weeks or more. In some cases, macular, maculopapular, or petechial rash and/or stiff neck, nausea, vomiting, abdominal pain, diarrhea, and sore throat may also occur.",,,,,,,,, +GARD:19043,Active,Orphanet,ORPHA:83616,Disorder,[Disease],Rubella panencephalitis,,"A rare chronic encephalitis developing up to several years after congenital rubella virus infection or rubella infection in childhood, characterized by slowly progressive, wide-spread neurological symptoms, like cognitive decline, cerebellar ataxia, spasticity, and seizures, amongst others. Progredient deterioration of the neurological disease eventually leads to the death of the patient.",,,,,,,,, +GARD:19044,Active,Orphanet,ORPHA:83619,Disorder,[Malformation syndrome],Macrostomia-preauricular tags-external ophthalmoplegia syndrome,,"A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.",,,,,,,,, +GARD:19045,Active,Orphanet,ORPHA:83628,Disorder,[Malformation syndrome],LUMBAR syndrome,"[Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome, PELVIS syndrome, Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome, SACRAL syndrome]","A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.",,,,,,,,, +GARD:19046,Active,Orphanet,ORPHA:84065,Disorder,[Disease],Idiopathic malabsorption due to bile acid synthesis defects,[Idiopathic bile acid malabsorption],A dirsorder that is due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.,,,,,,,,, +GARD:19047,Active,Orphanet,ORPHA:84085,Disorder,[Disease],Hinman syndrome,"[HAS, HS, Hinman-Allen syndrome, Non-neurogenic neurogenic bladder, Occult neuropathic bladder]",Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.,,,,,,,,, +GARD:19048,Active,Orphanet,ORPHA:84087,Disorder,[Disease],Collagen type III glomerulopathy,[Collagenofibrotic glomerulopathy],"A rare non-immune-mediated glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. Progression to end-stage kidney failure is possible.",,,,,,,,, +GARD:19049,Active,Orphanet,ORPHA:85168,Disorder,[Malformation syndrome],Craniofacial conodysplasia,,"Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.",,,,,,,,, +GARD:1905,Legacy,GARD,,,,,,,,,,,,Double discordia,TRUE,FALSE,Active +GARD:19050,Active,Orphanet,ORPHA:85175,Disorder,[Malformation syndrome],Astley-Kendall dysplasia,,"A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.",,,,,,,,, +GARD:19051,Active,Orphanet,ORPHA:85198,Disorder,[Malformation syndrome],Dysspondyloenchondromatosis,,"Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.",,,,,,,,, +GARD:19052,Active,Orphanet,ORPHA:85200,Disorder,[Malformation syndrome],Ischiovertebral syndrome,"[Ischiospinal dysostosis, Ischiovertebral dysplasia]","Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.",,,,,,,,, +GARD:19053,Active,Orphanet,ORPHA:85317,Disorder,[Malformation syndrome],X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.",,,,,,,,, +GARD:19054,Active,Orphanet,ORPHA:85319,Disorder,[Malformation syndrome],X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome,,"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.",,,,,,,,, +GARD:19055,Active,Orphanet,ORPHA:85320,Disorder,[Malformation syndrome],X-linked intellectual disability-macrocephaly-macroorchidism syndrome,[Johnson syndrome],"An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.",,,,,,,,, +GARD:19056,Active,Orphanet,ORPHA:85322,Disorder,[Malformation syndrome],"X-linked intellectual disability, Pai type",,"A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.",,,,,,,,, +GARD:19057,Active,Orphanet,ORPHA:85323,Disorder,[Disease],"X-linked intellectual disability, Seemanova type",,"X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.",,,,,,,,, +GARD:19058,Active,Orphanet,ORPHA:85325,Disorder,[Malformation syndrome],"X-linked intellectual disability, Stevenson type",,"X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.",,,,,,,,, +GARD:19059,Active,Orphanet,ORPHA:85326,Disorder,[Malformation syndrome],"X-linked intellectual disability, Stoll type",,"X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.",,,,,,,,, +GARD:1906,Legacy,GARD,,,,,,,,,,,,Double fingernail of fifth finger,TRUE,FALSE,Active +GARD:19060,Active,Orphanet,ORPHA:85327,Disorder,[Disease],X-linked intellectual disability-acromegaly-hyperactivity syndrome,,"X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.",,,,,,,,, +GARD:19061,Active,Orphanet,ORPHA:85334,Disorder,[Disease],"X-linked neurodegenerative syndrome, Bertini type",,"An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.",,,,,,,,, +GARD:19062,Active,Orphanet,ORPHA:85336,Disorder,[Disease],"X-linked neurodegenerative syndrome, Hamel type",,"An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death.",,,,,,,,, +GARD:19063,Active,Orphanet,ORPHA:85338,Disorder,[Disease],X-linked intellectual disability-ataxia-apraxia syndrome,,"A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.",,,,,,,,, +GARD:19064,Active,Orphanet,ORPHA:85435,Disorder,[Disease],Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis,"[Juvenile idiopathic rheumatoid factor-positive polyarthritis, Juvenile polyarthritis with rheumatoid factor, Rheumatoid factor-positive polyarticular JIA]",A rare form of juvenile idiopathic arthritis characterized by distal and symmetrical polyarthritis (more than 5 joints) with presence of rheumatoid factor and possible evolution towards the appearance of erosions and joint destruction.,,,,,,,,, +GARD:19065,Active,Orphanet,ORPHA:85446,Disorder,[Disease],Wild type ABeta2M amyloidosis,"[ABeta2Mwt amyloidosis, Dialysis-related amyloidosis, Dialysis-related arthropathy, Wild type ABeta2-microglobulinic amyloidosis]","A form of amyloidosis affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (β2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.",,,,,,,,, +GARD:19066,Active,Orphanet,ORPHA:86797,Disorder,[Disease],Atypical lichen myxedematosus,[Intermediate lichen myxedematosus],"An intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.",,,,,,,,, +GARD:19067,Active,Orphanet,ORPHA:86821,Disorder,[Malformation syndrome],Lissencephaly type 3-familial fetal akinesia sequence syndrome,,"Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia (see these terms).",,,,,,,,, +GARD:19068,Active,Orphanet,ORPHA:86823,Group of disorders,[Clinical group],Lissencephaly with cerebellar hypoplasia,[LCH],"Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.",,,,,,,,, +GARD:19069,Active,Orphanet,ORPHA:86836,Group of disorders,[Clinical group],Refractory cytopenia with multilineage dysplasia,,Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS; see this term) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.,,,,,,,,, +GARD:1907,Active,Orphanet,ORPHA:3427,Disorder,[Morphological anomaly],Double outlet left ventricle,[DOLV],"Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.",,,,,,Double outlet left ventricle,TRUE,FALSE,Active +GARD:19070,Active,Orphanet,ORPHA:86839,Disorder,[Disease],Refractory anemia with excess blasts,[RAEB],Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS; see this term) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood.,,,,,,,,, +GARD:19071,Active,Orphanet,ORPHA:86849,Disorder,[Disease],Acute basophilic leukemia,,"A rare acute myeloid leukemia characterized by primary differentiation to basophils. Microscopically, peripheral blood and bone marrow blasts contain coarse cytoplasmic basophilic granules which are positive with metachromatic staining (toluidine blue). Electron microscopy confirms that granules show features characteristic of basophil precursors. Mature basophils are usually sparse. Patients may present with manifestations related to bone marrow failure, as well as hepatosplenomegaly, cutaneous involvement, lytic lesions, and hyperhistaminemia. The disease is associated with a poor prognosis.",,,,,,,,, +GARD:19072,Active,Orphanet,ORPHA:86854,Disorder,[Disease],Splenic marginal zone lymphoma,[SMZL],"Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.",,,,,,,,, +GARD:19073,Active,Orphanet,ORPHA:86861,Disorder,[Disease],Non-amyloid monoclonal immunoglobulin deposition disease,"[Non-amyloid MIDD, Randall disease]","A rare, secondary glomerular disease characterized by proteinuria, dysproteinemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organization and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibers, gastrointestinal tract, or skin.",,,,,,,,, +GARD:19074,Active,Orphanet,ORPHA:86864,Disorder,[Disease],Heavy chain disease,[HCD],Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.,,,,,,,,, +GARD:19075,Active,Orphanet,ORPHA:86867,Disorder,[Disease],Nodal marginal zone B-cell lymphoma,[NMZL],"Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.",,,,,,,,, +GARD:19076,Active,Orphanet,ORPHA:86875,Disorder,[Disease],Adult T-cell leukemia/lymphoma,[ATLL],"A rare, virus associated tumor due to human T-cell leukemia virus type 1 or human T-cell lymphotropic virus type 1 (HTLV-1) and is characterized by the presence of anti-HTLV-1 antibodies, and malignant, mature, medium-sized T cells with condensed chromatin and polylobated nuclei. The malignant cells exhibit a mature CD4+ T cells phenotype and express CD2, CD5, CD25, CD45RO, HLA-DR, and T-cell receptor αβ. Presentation is heterogeneous and is typically of aggressive leukemia or lymphoma, variable skin eruptions, and visceral organ involvement.",,,,,,,,, +GARD:19077,Active,Orphanet,ORPHA:86882,Disorder,[Disease],Hepatosplenic T-cell lymphoma,,"A rare T-cell non-Hodgkin lymphoma characterized by a proliferation of cytotoxic T-cells, usually gamma delta T-cells, with involvement of the liver and spleen, but without involvement of lymph nodes. The bone marrow is consistently affected. Patients typically present during adolescence or young adulthood with hepatosplenomegaly, pancytopenia, and systemic symptoms. Peripheral blood involvement may develop later in the disease course. There is a clear male preponderance. The disease often occurs in the context of long-term immunosuppression. The course is aggressive with poor therapy response.",,,,,,,,, +GARD:19078,Active,Orphanet,ORPHA:86885,Disorder,[Disease],Primary cutaneous peripheral T-cell lymphoma not otherwise specified,"[Primary cutaneous peripheral T-cell lymphoma NOS, Primary cutaneous unspecified peripheral T-cell lymphoma]","An extremely rare, primary cutaneous T-cell lymphoma disorder characterized by solitary, or multifocal and diffuse, cutaneous lesions, ranging from tumor-like patches, plaques, papules, nodules, and/or erythroderma, located on any area of the body, which rapidly progress and may become ulcerated and/or infected. Systemic involvement may be associated.",,,,,,,,, +GARD:19079,Active,Orphanet,ORPHA:86893,Disorder,[Disease],Nodular lymphocyte predominant Hodgkin lymphoma,[NLPHL],Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare subtype of Hodgkin lymphoma (HL; see this term) characterized histologically by malignant lymphocyte predominant (LP) cells and the absence of typical Hodgkin and Reed-Sternberg (HRS) cells.,,,,,,,,, +GARD:1908,Active,Orphanet,ORPHA:3426,Disorder,[Morphological anomaly],Double outlet right ventricle,[DORV],"A rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.",[217095],,,,,Double outlet right ventricle,TRUE,FALSE,Active +GARD:19080,Active,Orphanet,ORPHA:86896,Disorder,[Disease],Histiocytic sarcoma,,"A rare histiocytic tumor characterized by a malignant proliferation of cells showing morphological and immunophenotypic features of mature tissue histiocytes. Most cases occur in extranodal sites, most commonly the intestinal tract, skin, and soft tissue. Patients may present with a solitary mass, lymphadenopathy, a skin rash or numerous tumors on the trunk and extremities, lytic bone lesions, hepatosplenomegaly with pancytopenia, intestinal obstruction, and/or systemic symptoms. The neoplasm is aggressive with typically poor therapy response.",,,,,,,,, +GARD:19081,Active,Orphanet,ORPHA:86902,Disorder,[Disease],Follicular dendritic cell sarcoma,,"A rare dendritic cell neoplasm characterized by a proliferation of spindled to ovoid cells with morphological and immunophenotypic features of follicular dendritic cells. Conventional follicular dendritic cell sarcomas are negative for EBV. The tumor arises as a painless, slow-growing mass in lymph nodes (most often cervical), extranodal sites (such as tonsils, gastrointestinal tract, soft tissue, mediastinum, or lung, among others), or both. Paraneoplastic pemphigus may occur in rare cases. Predictive factors are tumor size, presence of coagulative necrosis, mitotic count, and presence of significant cytological atypia.",,,,,,,,, +GARD:19082,Active,Orphanet,ORPHA:86903,Disorder,[Disease],Dendritic cell sarcoma not otherwise specified,,"A rare dendritic cell tumor characterized by a neoplasm composed of spindled to ovoid cells with phenotypic features similar to those of normal indeterminate cells. The tumor cells consistently express S100 protein and CD1a, while langerin, specific B- and T-cell markers, CD30, the histiocytic marker CD163, and the follicular dendritic cell markers CD21, CD23, and CD35 are negative. Birbeck granules are absent on ultrastructural examination. Patients typically present with multiple papules, nodules, or plaques of the skin. Primary lymph node or splenic involvement is less common. Systemic symptoms are usually absent. The clinical course is highly variable.",,,,,,,,, +GARD:19083,Active,Orphanet,ORPHA:86904,Disorder,[Disease],Methotrexate-associated lymphoproliferative disorders,"[MTX-LPD, MTX-associated lymphoproliferative disorders]","Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.",,,,,,,,, +GARD:19084,Active,Orphanet,ORPHA:86906,Disorder,[Disease],Hypothalamic hamartomas with gelastic seizures,,"Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.",,,,,,,,, +GARD:19085,Active,Orphanet,ORPHA:86908,Disorder,[Disease],Idiopathic hemiconvulsion-hemiplegia syndrome,"[HHE syndrome, Hemiconvulsion-hemiplegia-epilepsy syndrome, IHHS]","A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.",,,,,,,,, +GARD:19086,Active,Orphanet,ORPHA:86909,Disorder,[Disease],Myoclonic epilepsy of infancy,"[Benign myoclonic epilepsy of infancy, Benign myoclonus epilepsy of infancy]","A rare infantile epilepsy syndrome characterized by infancy-onset of myoclonic seizures in otherwise neurologically and developmentally normal patients. Jerks may vary in severity, can be singular or occur in a series, and occur spontaneously or (less commonly) after sensory stimuli. Seizures are self-limiting and remit within several months to years from onset, although generalized tonic-clonic seizures or other forms of epilepsy may be seen later in life. Developmental delay and cognitive and behavioral difficulties have been reported in a considerable percentage of patients.",,,,,,,,, +GARD:19087,Active,Orphanet,ORPHA:86911,Disorder,[Disease],Epilepsy with myoclonic absences,,"A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders.",,,,,,,,, +GARD:19088,Active,Orphanet,ORPHA:86913,Disorder,[Malformation syndrome],Myoclonic epilepsy in non-progressive encephalopathies,"[Myoclonic status in non-progressive encephalopathies, Myoclonus epilepsy in non-progressive encephalopathies]","Myoclonic epilepsy in non-progressive encephalopathies is a rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.",,,,,,,,, +GARD:19089,Active,Orphanet,ORPHA:86918,Disorder,[Disease],Diffuse palmoplantar keratoderma-acrocyanosis syndrome,[Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome],Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.,,,,,,,,, +GARD:19090,Active,Orphanet,ORPHA:87277,Group of disorders,[Category],Rare intellectual disability,,,,,,,,,,, +GARD:19091,Active,Orphanet,ORPHA:87884,Disorder,[Disease],Non-syndromic genetic deafness,"[Isolated genetic deafness, Isolated genetic hearing loss, Non-syndromic genetic hearing loss]","Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin.",,,,,,,,, +GARD:19092,Active,Orphanet,ORPHA:88643,Disorder,[Disease],Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome,,"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.",,,,,,,,, +GARD:19093,Active,Orphanet,ORPHA:88660,Disorder,[Disease],Hypertension due to gain-of-function mutations in the mineralocorticoid receptor,"[Early-onset hypertension with exacerbation in pregnancy, Pseudohyperaldosteronism type 2]","Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.",,,,,,,,, +GARD:19094,Active,Orphanet,ORPHA:88991,Group of disorders,[Category],Rare congenital non-syndromic heart malformation,,,,,,,,,,, +GARD:19095,Active,Orphanet,ORPHA:88993,Group of disorders,[Category],Esophageal malformation,,,,,,,,,,, +GARD:19096,Active,Orphanet,ORPHA:89043,Group of disorders,[Category],Rare dementia,,,,,,,,,,, +GARD:19097,Active,Orphanet,ORPHA:90002,Disorder,[Disease],Undifferentiated connective tissue syndrome,[UCTD],"A rare systemic autoimmune disease characterized by the presence of signs and symptoms suggestive of a systemic autoimmune disease that do not fulfil the existing classification criteria. The main clinical manifestations are arthritis with arthralgia, Raynaud's phenomenon, xerostomia, xerophthalmia, and leukopenia, while neurologic or renal involvement are virtually absent.",,,,,,,,, +GARD:19098,Active,Orphanet,ORPHA:90003,Disorder,[Disease],Inflammatory pseudotumor of the liver,,"A rare benign liver tumor characterized by a prominent inflammatory infiltrate and often mimicking a malignant liver neoplasm. The tumor is frequently solitary with a predilection for the right lobe; however, multiple lesions are possible. There are two clinicopathological subtypes: fibrohistiocytic inflammatory pseudotumor of the liver and lymphoplasmacytic inflammatory pseudotumor of the liver. Patients present with non-specific clinical symptoms such as abdominal pain or discomfort, fever, and weight loss. The condition may be associated with other chronic inflammatory or autoimmune diseases.",,,,,,,,, +GARD:19099,Active,Orphanet,ORPHA:90021,Disorder,[Disease],Radiation myelitis,,"Radiation myelitis is a rare neurological disease characterized by the development of paresthesias, as well as, in severe cases, progressive paresis and paralysis following irradiation of tumors in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered.",,,,,,,,, +GARD:191,Legacy,GARD,,,,,,,,,,,,Kashani Strom Utley syndrome,TRUE,FALSE,Active +GARD:1910,Active,Orphanet,ORPHA:3411,Disorder,[Malformation syndrome],Double uterus-hemivagina-renal agenesis syndrome,"[Double uterus and obstructed hemivagina syndrome, Herlyn-Werner syndrome, OHVIRA syndrome, Obstructed hemivagina and ipsilateral renal anomaly, Wunderlich syndrome]","A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.",[192050],,,,,Double uterus-hemivagina-renal agenesis,TRUE,FALSE,Active +GARD:19100,Active,Orphanet,ORPHA:90025,Group of disorders,[Category],Non-syndromic syndactyly,,"A group of rare, congenital, non-syndromic distal limb malformation disorders characterized by webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. The morphological anomaly can be unilateral or bilateral, symmetrical or asymmetrical, depending on the specific type.",,,,,,,,, +GARD:19101,Active,Orphanet,ORPHA:90036,Disorder,[Disease],Mixed-type autoimmune hemolytic anemia,[Mixed AIHA],"Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.",,,,,,,,, +GARD:19102,Active,Orphanet,ORPHA:90037,Disorder,[Disease],Drug-induced autoimmune hemolytic anemia,[Drug-induced AIHA],"Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.",,,,,,,,, +GARD:19103,Active,Orphanet,ORPHA:90039,Disorder,[Disease],Hemoglobin D disease,,"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).",,,,,,,,, +GARD:19104,Active,Orphanet,ORPHA:90041,Disorder,[Disease],Gaisböck syndrome,"[Stress erythrocytosis, Stress polycythemia]",Gaisbock syndrome is characterised by secondary polycythemia.,,,,,,,,, +GARD:19105,Active,Orphanet,ORPHA:90051,Disorder,[Particular clinical situation in a disease or syndrome],Sepsis in premature infants,,"A rare systemic condition affecting neonates born at less than 37 weeks gestational age and characterized by life-threatening organ dysfunction caused by a dysregulated host response to an infection, which may have been acquired shortly before or during birth (resulting in early-onset neonatal sepsis during the first 72 hours of life), or after birth (leading to late-onset neonatal sepsis between 72 hours and three months). Prematurity constitutes one of the primary risk factors for neonatal sepsis. The clinical picture may develop gradually with signs and symptoms like irritability, lethargy, or poor feeding, or progress rapidly to respiratory distress, fever, hypothermia, hypotension, shock, and multiple organ failure.",,,,,,,,, +GARD:19106,Active,Orphanet,ORPHA:90052,Disorder,[Particular clinical situation in a disease or syndrome],Recurrent hepatitis C virus induced liver disease in liver transplant recipients,,"A rare hepatic disease characterized by recurrence of hepatitis C virus infection after liver transplantation, leading to liver injury with features resembling those observed in the non-transplant graft, and typically developing after three months post-transplantation. The clinical course is highly variable, although patients most commonly develop progressive chronic liver disease with higher viral loads and more rapid fibrosis progression than in the immunocompetent population.",,,,,,,,, +GARD:19107,Active,Orphanet,ORPHA:90053,Disorder,[Particular clinical situation in a disease or syndrome],Complications after hematopoietic stem cell transplantation,[Complications after HSCT],,,,,,,,,, +GARD:19108,Active,Orphanet,ORPHA:90056,Disorder,[Particular clinical situation in a disease or syndrome],Moderate and severe traumatic brain injury,,"A rare neurologic condition characterized by brain damage caused by an external mechanical force, with a Glasgow Coma Scale score of 9 to 12 in moderate traumatic brain injury (TBI), or 3 to 8 in severe TBI, respectively. TBI can be closed (with the dura mater remaining intact) or open (with penetration of the dura mater) and may lead to focal damage, such as cerebral contusion and hemorrhage, as well as diffuse axonal injury and secondary damage due to increased intracranial pressure. Signs and symptoms are highly variable, depending on the nature, severity, localization, and extent of the trauma.",,,,,,,,, +GARD:19109,Active,Orphanet,ORPHA:90058,Disorder,[Particular clinical situation in a disease or syndrome],Spinal cord injury,,,,,,,,,,, +GARD:19110,Active,Orphanet,ORPHA:90060,Disorder,[Clinical syndrome],Diffuse alveolar hemorrhage,,"A rare clinical situation for which there is a European and/or American orphan designation. Characteristics include diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis.",,,,,,,,, +GARD:19111,Active,Orphanet,ORPHA:90061,Group of disorders,[Category],Non-infectious posterior uveitis,[Non-infectious choroiditis],,,,,,,,,, +GARD:19112,Active,Orphanet,ORPHA:90062,Disorder,[Clinical syndrome],Acute liver failure,"[Acute hepatic failure, Fulminant hepatic failure]","A rare hepatic disease characterized by acute onset of severe liver dysfunction without evidence of underlying chronic liver disease. Patients present with nonspecific symptoms like jaundice, upper right abdominal pain, nausea, vomiting, pruritus, fatigue, and fever. The condition may rapidly progress to hepatic encephalopathy, coagulopathy, and life-threatening multiorgan failure. Liver biopsy typically shows massive hepatic necrosis.",,,,,,,,, +GARD:19113,Active,Orphanet,ORPHA:90064,Disorder,[Particular clinical situation in a disease or syndrome],Acute peripheral arterial occlusion,,,,,,,,,,, +GARD:19114,Active,Orphanet,ORPHA:90065,Disorder,[Particular clinical situation in a disease or syndrome],Acquired aneurysmal subarachnoid hemorrhage,,"A rare, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.",,,,,,,,, +GARD:19115,Active,Orphanet,ORPHA:90068,Disorder,[Disease],Cocaine intoxication,,"A rare disorder due to poisoning characterized by variable combination and dose-dependent severity of clinical manifestations, affecting behavior, central nervous and cardiovascular system. Patients present with euphoria, irritability, agitation, psychosis, hallucinations, paranoia, seizures, decreased responsiveness, mydriasis, tachyarrhythmia, chest pain, and cardiovascular collapse. Sometimes also dyspnea, hypertension, hyperthermia, hypothermia, lack of sleep and serotonin syndrome are present. Severe intoxication may lead to coma and death.",,,,,,,,, +GARD:19116,Active,Orphanet,ORPHA:90069,Disorder,[Disease],Systemic monochloroacetate poisoning,,"Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.",,,,,,,,, +GARD:19117,Active,Orphanet,ORPHA:90073,Disorder,[Particular clinical situation in a disease or syndrome],Hepatitis B reinfection following liver transplantation,,"A rare hepatic disease characterized by graft infection with the hepatitis B virus (HBV) after liver transplantation, due to persistence and reactivation of HBV in extrahepatic sites (also despite previous clearance of the HBs antigen from serum, as shown by laboratory examination), followed by re-invasion of the graft. It may develop between two weeks and several years post transplantation. Clinico-pathological features are variable and range from mild self-limited hepatitis, chronic active hepatitis, and fulminant hepatitis, to fibrosing cholestatic hepatitis. The condition is associated with significantly reduced graft survival rates and overall patient survival.",,,,,,,,, +GARD:19118,Active,Orphanet,ORPHA:90076,Disorder,[Particular clinical situation in a disease or syndrome],Partial deep dermal and full thickness burns,,,,,,,,,,, +GARD:19119,Active,Orphanet,ORPHA:90077,Group of disorders,[Category],Other acquired skin disease,,,,,,,,,,, +GARD:1912,Active,Orphanet,ORPHA:75376,Disorder,[Disease],Familial drusen,"[DHRD, Dominant drusen, Dominant radial drusen, Doyne honeycomb retinal dystrophy, Malattia leventinese]","A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage.","[126700, 126600]",,,,,Doyne honeycomb retinal dystrophy,TRUE,FALSE,Active +GARD:19120,Active,Orphanet,ORPHA:90078,Disorder,[Particular clinical situation in a disease or syndrome],Invasive infections due to vancomycin-resistant enterococci,[Invasive infections due to VRE],,,,,,,,,, +GARD:19121,Active,Orphanet,ORPHA:90080,Disorder,[Particular clinical situation in a disease or syndrome],Scarring in glaucoma filtration surgical procedures,,,,,,,,,,, +GARD:19122,Active,Orphanet,ORPHA:90081,Disorder,[Particular clinical situation in a disease or syndrome],AIDS wasting syndrome,,,,,,,,,,, +GARD:19123,Active,Orphanet,ORPHA:90118,Disorder,[Disease],Severe early-onset axonal neuropathy due to MFN2 deficiency,"[AR-CMT2, Ouvrier type, Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type, SEOAN due to MFN2 deficiency]","Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.",,,,,,,,, +GARD:19124,Active,Orphanet,ORPHA:90119,Disorder,[Disease],Hereditary motor and sensory neuropathy with acrodystrophy,"[AR-CMT2 with acrodystrophy, Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy, Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy, HMSN with acrodystrophy]","Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.",,,,,,,,, +GARD:19125,Active,Orphanet,ORPHA:90156,Disorder,[Disease],Centrifugal lipodystrophy,[Lipodystrophia centrifugalis abdominalis infantilis],"Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.",,,,,,,,, +GARD:19126,Active,Orphanet,ORPHA:90157,Disorder,[Disease],Drug-induced localized lipodystrophy,[Lipoatrophy caused by injected drug],"Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.",,,,,,,,, +GARD:19127,Active,Orphanet,ORPHA:90158,Disorder,[Disease],Idiopathic localized lipodystrophy,,"Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).",,,,,,,,, +GARD:19128,Active,Orphanet,ORPHA:90159,Disorder,[Disease],Panniculitis-induced localized lipodystrophy,,"Panniculitis-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy disorder characterized by eruption of tender, occasionally painful, erythematous nodules and plaques which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically, lesions are characterized by lipophagic, lobular panniculitis and absence of vasculitis.",,,,,,,,, +GARD:19129,Active,Orphanet,ORPHA:90160,Disorder,[Disease],Pressure-induced localized lipoatrophy,"[Lipoatrophia semicircularis, Semicircular lipoatrophy]","Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.",,,,,,,,, +GARD:1913,Legacy,GARD,,,,,,,,,,,,Drachtman Weinblatt Sitarz syndrome,TRUE,FALSE,Active +GARD:19130,Active,Orphanet,ORPHA:90280,Disorder,[Disease],Chilblain lupus,,"A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.",,,,,,,,, +GARD:19131,Active,Orphanet,ORPHA:90281,Disorder,[Disease],Discoid lupus erythematosus,,"A rare form of chronic cutaneous lupus erythematosus characterized by erythematous, scaly papules and plaques preferentially occurring on sun-exposed skin areas (scalp, face, and ears) and exhibiting follicular plugging, pigmentary changes, and central atrophy, scarring, and telangiectasia. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and involvement of the dermoepidermal junction with thickening of the basement membrane and vacuolar degeneration of the basal cells. A small percentage of patients may develop systemic lupus erythematosus.",,,,,,,,, +GARD:19132,Active,Orphanet,ORPHA:90282,Disorder,[Disease],Hypertrophic or verrucous lupus erythematosus,,"Hypertrophic or verrucous lupus erythematosus is a rare type of chronic cutaneous lupus erythematosus characterized by the appearance of lesions on sun-exposed areas (frequently the extensor surfaces of forearms, face, upper trunk) which vary from squamous violet, painful papules and blackish hyperkeratotic ulcers to depigmented atrophic plaques on the back, hyperkeratotic papules on upper extremities, and disseminated keratoacanthoma-like papulonodular verrucous lesions. Classic discoid lesions and squamous cell carcinoma may be associated. Histopathology reveals follicular plugging, liquefactive basal layer degeneration and a perivascular lymphocytic infiltrate.",,,,,,,,, +GARD:19133,Active,Orphanet,ORPHA:90285,Disorder,[Disease],Lupus erythematosus panniculitis,[Lupus erythematosus profundus],"A rare form of chronic cutaneous lupus erythematosus characterized by recurrent, indurated, erythematous plaques and subcutaneous nodules with normal overlying epidermis, occurring predominantly on the face, upper arms, trunk, buttocks, and thighs. The lesions can ulcerate and lead to scarring. Histological findings include lobular lymphocytic panniculitis, hyaline fat necrosis, mucin deposition, and calcification. The condition may be associated with discoid or systemic lupus erythematosus.",,,,,,,,, +GARD:19134,Active,Orphanet,ORPHA:90350,Group of disorders,[Clinical group],Autosomal recessive cutis laxa type 2,"[ARCL2, Cutis laxa with joint laxity and developmental delay]","A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic autosomal recessive cutis laxa type 2 (ARCL2, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).",,,,,,,,, +GARD:19135,Active,Orphanet,ORPHA:90363,Disorder,[Disease],Secondary intestinal lymphangiectasia,,"Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia (see this term) manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome (see these terms) and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.",,,,,,,,, +GARD:19136,Active,Orphanet,ORPHA:90389,Subtype of disorder,[Clinical subtype],Telangiectasia macularis eruptiva perstans,,,,,,,,,,, +GARD:19137,Active,Orphanet,ORPHA:90393,Disorder,[Disease],Nodular lichen myxedematosus,[Atypical tuberous myxedema of Jadassohn-Dosseker],"Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus (see this term) characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.",,,,,,,,, +GARD:19138,Active,Orphanet,ORPHA:90394,Disorder,[Disease],Discrete papular lichen myxedematosus,,"Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus (see this term) characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.",,,,,,,,, +GARD:19139,Active,Orphanet,ORPHA:90395,Disorder,[Disease],Papular mucinosis of infancy,[Cutaneous mucinosis of infancy],Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus (see this term) characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.,,,,,,,,, +GARD:19140,Active,Orphanet,ORPHA:90396,Disorder,[Disease],Acral persistent papular mucinosis,,A rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.,,,,,,,,, +GARD:19141,Active,Orphanet,ORPHA:90397,Disorder,[Disease],Self-healing papular mucinosis,,"Self-healing papular mucinosis is a rare form of localized lichen myxedematosus (see this term) occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.",,,,,,,,, +GARD:19142,Active,Orphanet,ORPHA:90398,Subtype of disorder,[Clinical subtype],Localized lichen myxedematosus with mixed features of different subtypes,,"Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus (see this term), characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM (see these terms).",,,,,,,,, +GARD:19143,Active,Orphanet,ORPHA:90399,Subtype of disorder,[Clinical subtype],Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms,,"Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus (see this term), characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus (see these terms); a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.",,,,,,,,, +GARD:19144,Active,Orphanet,ORPHA:90400,Subtype of disorder,[Clinical subtype],Scleromyxedema without monoclonal gammopathy,,"Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus (see this term), characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.",,,,,,,,, +GARD:19145,Active,Orphanet,ORPHA:90642,Group of disorders,[Category],Syndromic genetic deafness,[Syndromic genetic hearing loss],,,,,,,,,, +GARD:19146,Active,Orphanet,ORPHA:90692,Group of disorders,[Category],Rare endocrine growth disease,,,,,,,,,,, +GARD:19147,Active,Orphanet,ORPHA:90771,Group of disorders,[Category],Disorder of sex development,[DSD],,,,,,,,,, +GARD:19148,Active,Orphanet,ORPHA:90776,Group of disorders,[Category],"46,XX disorder of sex development induced by fetal androgens excess","[46,XX DSD induced by fetal androgens excess]",,,,,,,,,, +GARD:19149,Active,Orphanet,ORPHA:90783,Group of disorders,[Category],"46,XY disorder of sex development due to a testosterone synthesis defect","[46,XY DSD due to a testosterone synthesis defect]",,,,,,,,,, +GARD:1915,Legacy,GARD,,,,,,,,,,,,Duane anomaly mental retardation,TRUE,FALSE,Retired +GARD:19150,Active,Orphanet,ORPHA:90786,Group of disorders,[Category],"46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect","[46,XY DSD due to adrenal and testicular steroidogenesis defect]",,,,,,,,,, +GARD:19151,Active,Orphanet,ORPHA:90787,Group of disorders,[Category],"46,XY disorder of sex development due to testicular steroidogenesis defect","[46,XY DSD due to testicular steroidogenesis defect]",,,,,,,,,, +GARD:19152,Active,Orphanet,ORPHA:91088,Group of disorders,[Category],Other metabolic disease,,,,,,,,,,, +GARD:19153,Active,Orphanet,ORPHA:91127,Disorder,[Particular clinical situation in a disease or syndrome],Adenovirus infection in immunocompromised patients,,,,,,,,,,, +GARD:19154,Active,Orphanet,ORPHA:91136,Disorder,[Disease],Acquired monoclonal Ig light chain-associated Fanconi syndrome,"[Acquired Fanconi syndrome secondary to monoclonal gammopathy, Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome]","A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.",,,,,,,,, +GARD:19155,Active,Orphanet,ORPHA:91140,Disorder,[Disease],Unspecified juvenile idiopathic arthritis,[Unspecified JIA],"Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.",,,,,,,,, +GARD:19156,Active,Orphanet,ORPHA:91144,Group of disorders,[Category],"46,XX disorder of sex development induced by maternal-derived androgen","[46,XX DSD induced by maternal-derived androgen]",,,,,,,,,, +GARD:19157,Active,Orphanet,ORPHA:91347,Disorder,[Disease],TSH-secreting pituitary adenoma,"[Pituitary thyrotrophic adenoma, TSH-oma, Thyroid stimulating hormone-secreting pituitary adenoma, Thyrotroph adenoma]","A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symptoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly.",,,,,,,,, +GARD:19158,Active,Orphanet,ORPHA:91348,Disorder,[Disease],Functioning gonadotropic adenoma,"[Functioning pituitary gonadotropic adenoma, Gonadotroph adenoma]","Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).",,,,,,,,, +GARD:19159,Active,Orphanet,ORPHA:91349,Disorder,[Disease],Non-functioning pituitary adenoma,[NFPA],"A rare pituitary tumor originating from normally hormone-producing cells of the adenohypophysis, characterized by a sellar or extrasellar mass manifesting with clinical signs secondary to mass effect, but without evidence for hormonal hypersecretion. Typical manifestations are visual disturbances, headaches, cranial nerve dysfunction, and hypopituitarism but the mass may also be discovered incidentally.",,,,,,,,, +GARD:19160,Active,Orphanet,ORPHA:91350,Disorder,[Disease],Pituitary deficiency due to Rathke cleft cysts,,"A rare, acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size, and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea.",,,,,,,,, +GARD:19161,Active,Orphanet,ORPHA:91351,Disorder,[Disease],Pituitary dermoid and epidermoid cysts,,"Pituitary dermoid and epidermoid cysts is a rare, acquired pituitary hormone deficiency characterized by the presence of rare, benign tumor in the sellar region. Clinical presentation is either acute or insidious, and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances, and pituitary dysfunction.",,,,,,,,, +GARD:19162,Active,Orphanet,ORPHA:91352,Subtype of disorder,[Clinical subtype],Germinoma of the central nervous system,,"A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity.",,,,,,,,, +GARD:19163,Active,Orphanet,ORPHA:91354,Disorder,[Disease],Pituitary deficiency due to empty sella turcica syndrome,[Hypopituitarism due to empty sella turcica syndrome],"A rare pituitary deficiency characterized by herniation of the subarachnoid space into the sella turcica, resulting in flattening of the pituitary gland and endocrine dysfunction. Most common endocrine abnormalities are hyperprolactinemia and growth hormone deficit. Clinical symptoms are highly variable and include headaches, irregular menstruation, galactorrhea, obesity, and visual disturbances, among others.",,,,,,,,, +GARD:19164,Active,Orphanet,ORPHA:91357,Group of disorders,[Clinical group],Duplication of the esophagus,,,,,,,,,,, +GARD:19165,Active,Orphanet,ORPHA:91358,Disorder,[Morphological anomaly],Congenital esophageal diverticulum,[Congenital esophageal pouch],"A rare, non-syndromic, congenital esophageal malformation characterized by a false diverticulum, most often located in the upper, posterior esophagus (pharyngo-esophageal) but may occur anywhere along the esophagus (mid-thoracic or epiphrenic). Many patients are asymptomatic, but bad breath, chronic cough, respiratory distress, food regurgitation, dysphagia, chest pain or discomfort, and aspiration pneumonia are typical presenting manifestations.",,,,,,,,, +GARD:19166,Active,Orphanet,ORPHA:91359,Disorder,[Disease],Chronic pneumonitis of infancy,[CPI],"Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD, see this term).",,,,,,,,, +GARD:19167,Active,Orphanet,ORPHA:91364,Disorder,[Disease],Non-specific interstitial pneumonia,"[NSIP, Non-specific idiopathic interstitial pneumonia]","A rare idiopathic interstitial pneumonia characterized by temporally uniform alveolar and interstitial mononuclear cell inflammation (cellular type) and/or fibrosis of the alveolar walls (fibrotic type) with preserved alveolar architecture. Other types of interstitial lung disease must be excluded. Symptoms are non-specific and include dyspnea, cough, and often constitutional symptoms such as fever and fatigue. Pulmonary function test reveals a restrictive pattern. Computed tomography shows predominantly lower lobe subpleural reticular changes, traction bronchiectasis, and ground-glass opacities. The cellular type of the disease is less common but carries a better prognosis.",,,,,,,,, +GARD:19168,Active,Orphanet,ORPHA:91397,Disorder,[Morphological anomaly],Isolated ankyloblepharon filiforme adnatum,,"Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.",,,,,,,,, +GARD:19169,Active,Orphanet,ORPHA:91491,Disorder,[Malformation syndrome],Congenital ectropion uveae,,"Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.",,,,,,,,, +GARD:1917,Active,Orphanet,ORPHA:1656,Disorder,[Disease],Dermatitis herpetiformis,[Duhring-Brocq disease],"A chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. It may also appear as a consequence of gluten intolerance.",[601230],,,,,Dermatitis herpetiformis ,TRUE,FALSE,Active +GARD:19170,Active,Orphanet,ORPHA:91546,Disorder,[Disease],Lyme disease,[Lyme borreliosis],Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.,,,,,,,,, +GARD:19171,Active,Orphanet,ORPHA:91547,Disorder,[Disease],Relapsing fever,,"Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease (see this term) belonging to the Borrelia burgdorferi complex.",,,,,,,,, +GARD:19172,Active,Orphanet,ORPHA:93101,Disorder,[Morphological anomaly],Renal hypoplasia,,A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient's age) with normal corticomedullary differentiation and reduced number of nephrons.,,,,,,,,, +GARD:19173,Active,Orphanet,ORPHA:93108,Disorder,[Morphological anomaly],Renal dysplasia,[Kidney dysplasia],"A rare renal malformation in which the kidney(s) are present but their development is abnormal, leading to malformation of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity.",,,,,,,,, +GARD:19174,Active,Orphanet,ORPHA:93109,Disorder,[Morphological anomaly],Congenital megacalycosis,,"Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.",,,,,,,,, +GARD:19175,Active,Orphanet,ORPHA:93126,Disorder,[Disease],Pauci-immune glomerulonephritis,,"A rare small vessel vasculitis associated with rapidly progressive glomerulonephritis (GN) and clinically characterized by renal manifestations such as urinary abnormalities (hematuria and/or proteinuria) and hypertension leading to renal failure within days or weeks, and distinguished by the absence of immune deposits on immunofluorescent microscopy. The disease can occur as a renal-limited disease or as a component of systemic necrotizing small-vessel vasculitis.",,,,,,,,, +GARD:19176,Active,Orphanet,ORPHA:93164,Disorder,[Disease],Transient pseudohypoaldosteronism,"[Secondary pseudohypoaldosteronism, TPHA]","A rare renal tubulopathy secondary to urinary tract infection (UTI) and/or urinary tract malformation (UTM) characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis, hyperkalemia and inappropriately high serum aldosterone concentration and clinically manifesting as dehydration, vomiting, and poor oral intake.",,,,,,,,, +GARD:19177,Active,Orphanet,ORPHA:93172,Subtype of disorder,[Clinical subtype],"Renal dysplasia, unilateral","[Kidney dysplasia, unilateral]","A form of renal dysplasia (RD) characterized by abnormal or incomplete development of one kidney. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the contralateral kidney is functional. Even in cases of severe unilateral RD, i.e. renal aplasia, the risk of renal failure in childhood is minimal; however, patients may develop hypertension, proteinuria and renal failure as adults.",,,,,,,,, +GARD:19178,Active,Orphanet,ORPHA:93173,Subtype of disorder,[Clinical subtype],"Renal dysplasia, bilateral","[Kidney dysplasia, bilateral]","A form of renal dysplasia (RD), a renal tract malformation, characterized by abnormal or incomplete development of both kidneys. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the residual kidney function is sufficient. In cases of severe bilateral RD, the risk of renal failure in childhood is high.",,,,,,,,, +GARD:19179,Active,Orphanet,ORPHA:93176,Subtype of disorder,[Clinical subtype],Unilateral congenital megacalycosis,,,,,,,,,,, +GARD:1918,Legacy,GARD,,,,,,,,,,,,Duker Weiss Siber syndrome,TRUE,FALSE,Active +GARD:19180,Active,Orphanet,ORPHA:93177,Subtype of disorder,[Clinical subtype],Congenital bilateral megacalycosis,,,,,,,,,,, +GARD:19181,Active,Orphanet,ORPHA:93277,Subtype of disorder,[Clinical subtype],Monostotic fibrous dysplasia,[Jaffe-Lichtenstein disease],,,,,,,,,, +GARD:19182,Active,Orphanet,ORPHA:93320,Disorder,[Morphological anomaly],Ulnar hemimelia,"[Congenital longitudinal deficiency of the ulna, Ulnar clubhand, Ulnar longitudinal meromelia]",A rare congenital limb malformation characterized by complete or partial absence of the ulna.,,,,,,,,, +GARD:19183,Active,Orphanet,ORPHA:93399,Subtype of disorder,[Clinical subtype],Juvenile sialidosis type 2,,,,,,,,,,, +GARD:19184,Active,Orphanet,ORPHA:93400,Subtype of disorder,[Clinical subtype],Congenital sialidosis type 2,,,,,,,,,,, +GARD:19185,Active,Orphanet,ORPHA:93420,Group of disorders,[Category],FGFR3-related chondrodysplasia,,,,,,,,,,, +GARD:19186,Active,Orphanet,ORPHA:93421,Group of disorders,[Category],Type 2 collagen-related bone disorder,,,,,,,,,,, +GARD:19187,Active,Orphanet,ORPHA:93422,Group of disorders,[Category],Type 11 collagen-related bone disorder,,,,,,,,,,, +GARD:19188,Active,Orphanet,ORPHA:93423,Group of disorders,[Category],Sulfation-related bone disorder,,,,,,,,,,, +GARD:19189,Active,Orphanet,ORPHA:93424,Group of disorders,[Category],Perlecan-related bone disorder,,,,,,,,,,, +GARD:1919,Legacy,GARD,,,,,,,,,,,,Duodenal atresia tetralogy of Fallot,TRUE,FALSE,Active +GARD:19190,Active,Orphanet,ORPHA:93425,Group of disorders,[Category],Filamin-related bone disorder,[Bone filaminopathy],,,,,,,,,, +GARD:19191,Active,Orphanet,ORPHA:93429,Group of disorders,[Category],Multiple epiphyseal dysplasia and pseudoachondroplasia,,,,,,,,,,, +GARD:19192,Active,Orphanet,ORPHA:93430,Group of disorders,[Clinical group],Multiple metaphyseal dysplasia,,,,,,,,,,, +GARD:19193,Active,Orphanet,ORPHA:93434,Group of disorders,[Clinical group],Spondylodysplastic dysplasia,,,,,,,,,,, +GARD:19194,Active,Orphanet,ORPHA:93436,Group of disorders,[Clinical group],Acromelic dysplasia,,,,,,,,,,, +GARD:19195,Active,Orphanet,ORPHA:93438,Group of disorders,[Clinical group],Mesomelic and rhizo-mesomelic dysplasia,,,,,,,,,,, +GARD:19196,Active,Orphanet,ORPHA:93439,Group of disorders,[Clinical group],Campomelic dysplasia and related disorders,[Bent bone dysplasia],,,,,,,,,, +GARD:19197,Active,Orphanet,ORPHA:93440,Group of disorders,[Clinical group],Slender bone dysplasia,,,,,,,,,,, +GARD:19198,Active,Orphanet,ORPHA:93441,Group of disorders,[Clinical group],Primary bone dysplasia with multiple joint dislocations,"[Primary osteodysplasia with multiple joint dislocations, Primary skeletal dysplasia with multiple joint dislocations]",,,,,,,,,, +GARD:19199,Active,Orphanet,ORPHA:93443,Group of disorders,[Clinical group],Neonatal osteosclerotic dysplasia,,,,,,,,,,, +GARD:192,Active,Orphanet,ORPHA:1381,Disorder,[Malformation syndrome],Cataract-intellectual disability-anal atresia-urinary defects syndrome,[Karandikar-Maria-Kamble syndrome],"Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.",,,,,,Karandikar Maria Kamble syndrome,TRUE,FALSE,Active +GARD:19200,Active,Orphanet,ORPHA:93444,Group of disorders,[Category],Primary bone dysplasia with increased bone density,"[Primary osteodysplasia with increased bone density, Primary skeletal dysplasia with increased bone density, Sclerosing bone dysplasia]",,,,,,,,,, +GARD:19201,Active,Orphanet,ORPHA:93446,Group of disorders,[Category],Primary bone dysplasia with decreased bone density,"[Primary osteodysplasia with decreased bone density, Primary skeletal dysplasia with decreased bone density]",,,,,,,,,, +GARD:19202,Active,Orphanet,ORPHA:93447,Group of disorders,[Category],Primary bone dysplasia with defective bone mineralization,"[Primary osteodysplasia with defective bone mineralization, Primary skeletal dysplasia with defective bone mineralization]",,,,,,,,,, +GARD:19203,Active,Orphanet,ORPHA:93448,Group of disorders,[Category],Lysosomal storage disease with skeletal involvement,[Dysostosis multiplex],,,,,,,,,, +GARD:19204,Active,Orphanet,ORPHA:93449,Group of disorders,[Category],Primary osteolysis,,,,,,,,,,, +GARD:19205,Active,Orphanet,ORPHA:93450,Group of disorders,[Category],Primary bone dysplasia with disorganized development of skeletal components,"[Primary osteodysplasia with disorganized development of skeletal components, Primary skeletal dysplasia with disorganized development of skeletal components]",,,,,,,,,, +GARD:19206,Active,Orphanet,ORPHA:93451,Group of disorders,[Category],Cleidocranial dysplasia and isolated cranial ossification defect,,,,,,,,,,, +GARD:19207,Active,Orphanet,ORPHA:93453,Group of disorders,[Category],Dysostosis with predominant craniofacial involvement,,,,,,,,,,, +GARD:19208,Active,Orphanet,ORPHA:93454,Group of disorders,[Category],Dysostosis with predominant vertebral and costal involvement,,,,,,,,,,, +GARD:19209,Active,Orphanet,ORPHA:93455,Group of disorders,[Category],Patellar dysostosis,,,,,,,,,,, +GARD:19210,Active,Orphanet,ORPHA:93457,Group of disorders,[Category],Non-syndromic limb reduction defect,[Non-syndromic limb hypoplasia],,,,,,,,,, +GARD:19211,Active,Orphanet,ORPHA:93458,Group of disorders,[Category],"Non-syndromic polydactyly, syndactyly and/or hyperphalangy",,,,,,,,,,, +GARD:19212,Active,Orphanet,ORPHA:93459,Group of disorders,[Category],Syndrome with synostosis or other joint formation defect,,,,,,,,,,, +GARD:19213,Active,Orphanet,ORPHA:93460,Group of disorders,[Category],Overgrowth syndrome,,,,,,,,,,, +GARD:19214,Active,Orphanet,ORPHA:93461,Group of disorders,[Category],Chromosomal disease with overgrowth,,,,,,,,,,, +GARD:19215,Active,Orphanet,ORPHA:93465,Group of disorders,[Category],Lethal chondrodysplasia,,,,,,,,,,, +GARD:19216,Active,Orphanet,ORPHA:93545,Group of disorders,[Category],Renal or urinary tract malformation,"[CAKUT, Congenital anomalies of kidney and urinary tract]",,,,,,,,,, +GARD:19217,Active,Orphanet,ORPHA:93546,Group of disorders,[Category],Non-syndromic renal or urinary tract malformation,,,,,,,,,,, +GARD:19218,Active,Orphanet,ORPHA:93547,Group of disorders,[Category],Syndromic renal or urinary tract malformation,,,,,,,,,,, +GARD:19219,Active,Orphanet,ORPHA:93552,Disorder,[Disease],Pediatric systemic lupus erythematosus,"[SLE, pediatric onset]","A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system).",,,,,,,,, +GARD:19220,Active,Orphanet,ORPHA:93554,Subtype of disorder,[Etiological subtype],Mixed cryoglobulinemia type II,[MC type II],"A clinico-serological subtype of mixed cryoglobulinemia syndrome, an immune complex disorder, characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).",,,,,,,,, +GARD:19221,Active,Orphanet,ORPHA:93555,Subtype of disorder,[Etiological subtype],Mixed cryoglobulinemia type III,[MC type III],"A clinico-serological subtype of mixed cryoglobulinemia syndrome, is an immune complex disorder, characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.",,,,,,,,, +GARD:19222,Active,Orphanet,ORPHA:93556,Subtype of disorder,[Clinical subtype],Heavy chain deposition disease,[HCDD],"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia.",,,,,,,,, +GARD:19223,Active,Orphanet,ORPHA:93557,Subtype of disorder,[Clinical subtype],Light and heavy chain deposition disease,[LHCDD],"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by secretion of abnormal light and heavy chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition most frequently occurs in association with multiple myeloma. The kidneys are most commonly affected (clinically manifesting as nephrotic syndrome and renal failure), but liver, heart, peripheral nerves, blood vessels, and joints may also be involved.",,,,,,,,, +GARD:19224,Active,Orphanet,ORPHA:93560,Subtype of disorder,[Clinical subtype],AApoAI amyloidosis,"[Apolipoprotein A-I amyloidosis, Familial amyloid nephropathy due to apolipoprotein A-I variant, Familial renal amyloidosis due to apolipoprotein A-I variant, Hereditary amyloid nephropathy due to apolipoprotein A-I variant, Hereditary renal amyloidosis due to apolipoprotein A-I variant]","A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported.",,,,,,,,, +GARD:19225,Active,Orphanet,ORPHA:93561,Subtype of disorder,[Clinical subtype],ALys amyloidosis,"[Familial amyloid nephropathy due to lysozyme variant, Familial renal amyloidosis due to lysozyme variant, Hereditary amyloid nephropathy due to lysozyme variant, Hereditary renal amyloidosis due to lysozyme variant, Lysozyme amyloidosis]","A rare, hereditary amyloidosis with primary renal involvement characterized by amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction.",,,,,,,,, +GARD:19226,Active,Orphanet,ORPHA:93562,Subtype of disorder,[Clinical subtype],AFib amyloidosis,"[Familial amyloid nephropathy due to fibrinogen A alpha-chain variant, Fibrinogen A alpha-chain amyloidosis, Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant, Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant]","A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition.",,,,,,,,, +GARD:19227,Active,Orphanet,ORPHA:93573,Group of disorders,[Clinical group],Thrombotic microangiopathy,[TMA],,,,,,,,,, +GARD:19228,Active,Orphanet,ORPHA:93587,Group of disorders,[Category],Genetic cystic renal disease,[Hereditary cystic renal disease],,,,,,,,,, +GARD:19229,Active,Orphanet,ORPHA:93593,Group of disorders,[Category],Nephropathy secondary to a storage or other metabolic disease,,,,,,,,,,, +GARD:1923,Legacy,GARD,,,,,,,,,,,,Chromosome 11q duplication,TRUE,FALSE,Active +GARD:19230,Active,Orphanet,ORPHA:93603,Group of disorders,[Category],Rare renal tubular disease,,,,,,,,,,, +GARD:19231,Active,Orphanet,ORPHA:93614,Group of disorders,[Category],Hematological disorder with renal involvement,,,,,,,,,,, +GARD:19232,Active,Orphanet,ORPHA:93618,Group of disorders,[Category],Rare cause of hypertension,,,,,,,,,,, +GARD:19233,Active,Orphanet,ORPHA:93619,Group of disorders,[Category],Rare renal tumor,,,,,,,,,,, +GARD:19234,Active,Orphanet,ORPHA:93665,Group of disorders,[Category],Autoinflammatory syndrome,,,,,,,,,,, +GARD:19235,Active,Orphanet,ORPHA:93928,Subtype of disorder,[Clinical subtype],Isolated epispadias,,A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.,,,,,,,,, +GARD:19236,Active,Orphanet,ORPHA:93938,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 1,"[LTEC I, LTEC1, Laryngo-tracheo-esophageal cleft type 1]","A congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.",,,,,,,,, +GARD:19237,Active,Orphanet,ORPHA:93939,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 2,"[LTEC II, LTEC2, Laryngo-tracheo-esophageal cleft type 2]","A congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.",,,,,,,,, +GARD:19238,Active,Orphanet,ORPHA:93941,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 4,"[LTEC IV, LTEC4, Laryngo-tracheo-esophageal cleft type 4]","A serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.",,,,,,,,, +GARD:19239,Active,Orphanet,ORPHA:93945,Subtype of disorder,[Clinical subtype],"X-linked intellectual disability, Porteous type",,,,,,,,,,, +GARD:19240,Active,Orphanet,ORPHA:93946,Subtype of disorder,[Clinical subtype],Hamel cerebro-palato-cardiac syndrome,,"An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.",,,,,,,,, +GARD:19241,Active,Orphanet,ORPHA:93947,Subtype of disorder,[Clinical subtype],"X-linked intellectual disability, Golabi-Ito-Hall type",,"An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.",,,,,,,,, +GARD:19242,Active,Orphanet,ORPHA:93950,Subtype of disorder,[Clinical subtype],"X-linked intellectual disability, Sutherland-Haan type",,,,,,,,,,, +GARD:19243,Active,Orphanet,ORPHA:93958,Disorder,[Disease],Oromandibular dystonia,,"A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.",,,,,,,,, +GARD:19244,Active,Orphanet,ORPHA:94056,Disorder,[Morphological anomaly],Humero-ulnar synostosis,[Humero-ulnar fusion],"A rare joint formation defect characterized by a bony connection between the humerus and the ulna, resulting in fixed flexion of the forearm, usually near 90°. The condition may be associated with upper limb hypoplasia. It may be sporadic or familial and occur uni- or bilaterally.",,,,,,,,, +GARD:19245,Active,Orphanet,ORPHA:94058,Disorder,[Particular clinical situation in a disease or syndrome],Neovascular glaucoma,,"Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.",,,,,,,,, +GARD:19246,Active,Orphanet,ORPHA:94059,Disorder,[Particular clinical situation in a disease or syndrome],Uremic pruritus,,,,,,,,,,, +GARD:19247,Active,Orphanet,ORPHA:94066,Disorder,[Malformation syndrome],Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia,,"Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.",,,,,,,,, +GARD:19248,Active,Orphanet,ORPHA:94080,Disorder,[Disease],Non-functioning paraganglioma,[Non-secreting paraganglioma],"A rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome, may be observed.",,,,,,,,, +GARD:19249,Active,Orphanet,ORPHA:94087,Disorder,[Disease],Cytophagic histiocytic panniculitis,"[CHP, Winkelmann cytophagic panniculitis]","Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.",,,,,,,,, +GARD:19250,Active,Orphanet,ORPHA:94091,Disorder,[Disease],Mills syndrome,,"A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemiplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and controversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.",,,,,,,,, +GARD:19251,Active,Orphanet,ORPHA:94125,Disorder,[Disease],Recessive mitochondrial ataxia syndrome,[MIRAS],"Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.",,,,,,,,, +GARD:19252,Active,Orphanet,ORPHA:94145,Group of disorders,[Clinical group],Autosomal dominant cerebellar ataxia type I,"[ADCA1, ADCAI, Autosomal dominant cerebellar ataxia type 1, Cerebellar plus syndrome]","A group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.",,,,,,,,, +GARD:19253,Active,Orphanet,ORPHA:94148,Group of disorders,[Clinical group],Autosomal dominant cerebellar ataxia type III,"[ADCA3, ADCAIII, Autosomal dominant cerebellar ataxia type 3, Pure cerebellar syndrome-mild pyramidal signs syndrome]","A group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.",,,,,,,,, +GARD:19254,Active,Orphanet,ORPHA:94149,Group of disorders,[Clinical group],Autosomal dominant cerebellar ataxia type IV,"[ADCA4, ADCAIV, Autosomal dominant cerebellar ataxia type 4]",,,,,,,,,, +GARD:19255,Active,Orphanet,ORPHA:95157,Group of disorders,[Clinical group],Acute hepatic porphyria,,"A rare sub-group of porphyrias characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare).",,,,,,,,, +GARD:19256,Active,Orphanet,ORPHA:95161,Group of disorders,[Clinical group],Chronic hepatic porphyria,,Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms).,,,,,,,,, +GARD:19257,Active,Orphanet,ORPHA:95409,Disorder,[Clinical syndrome],Acute adrenal insufficiency,"[Acute adrenal failure, Acute adrenocortical insufficiency, Addisonian crisis, Adrenal crisis, Adrenocortical crisis]","A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.",,,,,,,,, +GARD:19258,Active,Orphanet,ORPHA:95427,Disorder,[Disease],Secondary short bowel syndrome,,"Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.",,,,,,,,, +GARD:19259,Active,Orphanet,ORPHA:95443,Disorder,[Morphological anomaly],Mesocardia,[Midline heart],"A rare, congenital non-syndromic heart malformation characterized by an atypical location of the heart in a central position in the thorax, with the apex in the midline of the thorax. Atria are usually situs solitus, whereas ventricles may be situs inversus. Various congenital heart anomalies and visceral situs inversus have also been associated.",,,,,,,,, +GARD:1926,Legacy,GARD,,,,,,,,,,,,Chromosome 12q duplication,TRUE,FALSE,Active +GARD:19260,Active,Orphanet,ORPHA:95448,Subtype of disorder,[Clinical subtype],Congenital aortic valve atresia,,,,,,,,,,, +GARD:19261,Active,Orphanet,ORPHA:95457,Disorder,[Morphological anomaly],Tricuspid valve agenesis,[Congenital unguarded tricuspid orifice],"A rare, congenital, non-syndromic heart malformation characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice. It can be isolated or associated with other heart anomalies. Clinical presentation is variable and may include syncope, arrhythmias, cyanosis, right heart dilatation and failure.",,,,,,,,, +GARD:19262,Active,Orphanet,ORPHA:95459,Disorder,[Morphological anomaly],Congenital tricuspid stenosis,,"A rare congenital tricuspid malformation characterized by narrowing of the tricuspid valve orifice due to congenital valve anomalies, such as incompletely developed leaflets, shortened and malformed chordae tendineae, small annulus, and/or abnormal number and size of papillary muscles, resulting in right ventricular inflow obstruction. Clinical presentation depends on the degree of stenosis, as well as the presence or absence of additional cardiac anomalies, and includes easy fatigability, swelling of the lower limbs, and hepatomegaly, among others.",,,,,,,,, +GARD:19263,Active,Orphanet,ORPHA:95461,Disorder,[Morphological anomaly],Straddling or overriding tricuspid valve,,"Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.",,,,,,,,, +GARD:19264,Active,Orphanet,ORPHA:95462,Disorder,[Morphological anomaly],Accessory tricuspid valve tissue,,"A rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.",,,,,,,,, +GARD:19265,Active,Orphanet,ORPHA:95463,Group of disorders,[Category],Anomaly of the tricuspid subvalvular apparatus,,"A group of rare congenital tricuspid malformations characterized by anomalies of the chordae tendineae and papillary muscles, including aberrant chordae tendineae, straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired right ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.",,,,,,,,, +GARD:19266,Active,Orphanet,ORPHA:95464,Group of disorders,[Category],Congenital mitral valve insufficiency and/or stenosis,,,,,,,,,,, +GARD:19267,Active,Orphanet,ORPHA:95465,Disorder,[Morphological anomaly],Cleft mitral valve,,"A rare, congenital, non-syndromic heart malformation characterized by a slit-like hole or defect in one of the mitral valve leaflets, which is usually thickened and distorted. It usually affects the anterior leaflet, but the cleft of posterior leaflet has also been described. Cleft mitral valve can be isolated or associated with other congenital heart anomalies.",,,,,,,,, +GARD:19268,Active,Orphanet,ORPHA:95474,Subtype of disorder,[Clinical subtype],Double-orifice mitral valve,,"A rare, congenital, non-syndromic heart malformation characterized by a single fibrous annulus with two orifices opening into the left ventricle. Clinical presentation is variable and related to the degree of resulting mitral insufficiency and/or stenosis, and depending on the associated heart disease, most commonly atrioventricular septal defect, obstructive left-sided lesions, and cyanotic heart disease. Rare cases of isolated disease have been reported.",,,,,,,,, +GARD:19269,Active,Orphanet,ORPHA:95483,Group of disorders,[Category],Univentricular cardiopathy,,,,,,,,,,, +GARD:19270,Active,Orphanet,ORPHA:95485,Group of disorders,[Category],Arterial duct anomaly,[Patent ductus arteriosus anomalies],,,,,,,,,, +GARD:19271,Active,Orphanet,ORPHA:95486,Disorder,[Morphological anomaly],Premature closure of the arterial duct,[Premature closure of the patent ductus arteriosus],"Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.",,,,,,,,, +GARD:19272,Active,Orphanet,ORPHA:95488,Group of disorders,[Category],Non-acquired pituitary hormone deficiency,,,,,,,,,,, +GARD:19273,Active,Orphanet,ORPHA:95491,Disorder,[Morphological anomaly],Congenital coronary artery aneurysm,[Congenital coronary aneurysm],"Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.",,,,,,,,, +GARD:19274,Active,Orphanet,ORPHA:95495,Group of disorders,[Category],Disease associated with non-acquired combined pituitary hormone deficiency,,,,,,,,,,, +GARD:19275,Active,Orphanet,ORPHA:95498,Group of disorders,[Category],Congenital anomaly of superior vena cava,"[Congenital anomaly of superior caval vein, Congenital anomaly of the SVC]",,,,,,,,,, +GARD:19276,Active,Orphanet,ORPHA:95499,Group of disorders,[Category],Congenital anomaly of the inferior vena cava,"[Congenital anomaly of the IVC, Congenital anomaly of the inferior caval vein]",,,,,,,,,, +GARD:19277,Active,Orphanet,ORPHA:95500,Group of disorders,[Category],Congenital anomaly of the coronary sinus,,,,,,,,,,, +GARD:19278,Active,Orphanet,ORPHA:95502,Group of disorders,[Category],Acquired pituitary hormone deficiency,,,,,,,,,,, +GARD:19279,Active,Orphanet,ORPHA:95503,Group of disorders,[Category],Pituitary hormone deficiency of tumoral origin,,,,,,,,,,, +GARD:19280,Active,Orphanet,ORPHA:95505,Group of disorders,[Category],Pituitary hormone deficiency of meningeal origin,,,,,,,,,,, +GARD:19281,Active,Orphanet,ORPHA:95506,Group of disorders,[Clinical group],Primary hypophysitis,[Autoimmune hypophysitis],,,,,,,,,, +GARD:19282,Active,Orphanet,ORPHA:95507,Disorder,[Morphological anomaly],Congenital anomaly of hepatic vein,,,,,,,,,,, +GARD:19283,Active,Orphanet,ORPHA:95510,Group of disorders,[Category],Atrial appendage anomaly,[Atrial auricle anomaly],,,,,,,,,, +GARD:19284,Active,Orphanet,ORPHA:95512,Disorder,[Disease],Adenohypophysitis,[Anterior pituitary hypophysitis],"A rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.",,,,,,,,, +GARD:19285,Active,Orphanet,ORPHA:95513,Disorder,[Disease],Panhypophysitis,[Infundibulo-panhypophysitis],"Panhypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.",,,,,,,,, +GARD:19286,Active,Orphanet,ORPHA:95611,Group of disorders,[Category],Pituitary hormone deficiency of vascular origin,,,,,,,,,,, +GARD:19287,Active,Orphanet,ORPHA:95613,Disorder,[Disease],Pituitary apoplexy,[Pituitary tumor apoplexy],"A rare pituitary disease characterized by hemorrhagic or non-hemorrhagic necrosis of the pituitary gland. Clinical manifestations typically comprise sudden and severe headache (often with nausea and vomiting), visual disturbances (visual-field defects, loss of visual acuity), oculomotor palsies, and variable degrees of altered consciousness, ranging from lethargy to coma. Acute endocrine dysfunction may also be present, most commonly corticotropic deficiency with severe hypotension and hyponatremia as well as secondary adrenal failure, but also thyrotropic and gonadotropic deficiency.",,,,,,,,, +GARD:19288,Active,Orphanet,ORPHA:95617,Group of disorders,[Category],Pituitary hormone deficiency secondary to a granulomatous disease,,,,,,,,,,, +GARD:19289,Active,Orphanet,ORPHA:95618,Group of disorders,[Category],Pituitary hormone deficiency secondary to storage disease,,,,,,,,,,, +GARD:1929,Legacy,GARD,,,,,,,,,,,,Chromosome 13q duplication,TRUE,FALSE,Active +GARD:19290,Active,Orphanet,ORPHA:95619,Disorder,[Disease],Post-traumatic pituitary deficiency,,"A rare, acquired, endocrine disorder characterized by deficiency of one or more of the pituitary hormones resulting as a consequence of traumatic or medically-induced injury of the pituitary gland. Clinical presentation is variable depending on the nature and acuity of the injury and the resulting order and amount of hormone deficiency.",,,,,,,,, +GARD:19291,Active,Orphanet,ORPHA:95626,Subtype of disorder,[Clinical subtype],Acquired central diabetes insipidus,"[Acquired CDI, Acquired neurogenic diabetes insipidus]","A subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.",,,,,,,,, +GARD:19292,Active,Orphanet,ORPHA:95707,Disorder,[Morphological anomaly],Idiopathic isolated micropenis,,"A rare, non-syndromic, urogenital tract malformation characterized by an anatomically normal penis which has a stretched penile length of less than 2.5 SD for age, in the absence of any other abnormalities and with no known cause.",,,,,,,,, +GARD:19293,Active,Orphanet,ORPHA:95709,Group of disorders,[Category],Acquired premature ovarian failure,,,,,,,,,,, +GARD:19294,Active,Orphanet,ORPHA:95710,Group of disorders,[Category],Non-acquired premature ovarian failure,,,,,,,,,,, +GARD:19295,Active,Orphanet,ORPHA:95711,Group of disorders,[Category],Congenital hypothyroidism due to developmental anomaly,[Primary congenital hypothyroidism due to developmental anomaly],"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.",,,,,,,,, +GARD:19296,Active,Orphanet,ORPHA:95714,Group of disorders,[Category],Primary congenital hypothyroidism without thyroid developmental anomaly,,Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal.,,,,,,,,, +GARD:19297,Active,Orphanet,ORPHA:95715,Disorder,[Disease],Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies,,"Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism (see this term), a thyroid hormone deficiency that is not permanent.",,,,,,,,, +GARD:19298,Active,Orphanet,ORPHA:95717,Disorder,[Disease],Idiopathic congenital hypothyroidism,,Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown.,,,,,,,,, +GARD:19299,Active,Orphanet,ORPHA:95718,Group of disorders,[Category],Congenital thyroid malformation without hypothyroidism,,,,,,,,,,, +GARD:193,Active,Orphanet,ORPHA:2745,Disorder,[Malformation syndrome],Opitz GBBB syndrome,"[Hypertelorism-hypospadias syndrome, Hypertelorism-oesophageal abnormality-hypospadias syndrome, Hypospadias-dysphagia syndrome, Opitz BBB/G syndrome, Opitz BBBG syndrome, Opitz G/BBB syndrome, Opitz-Frias syndrome]","A rare X-linked congenital midline malformation syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias.",[300000],,,,,Opitz G/BBB syndrome,TRUE,FALSE,Active +GARD:19300,Active,Orphanet,ORPHA:96059,Disorder,[Malformation syndrome],Mosaic trisomy 4,"[Mosaic trisomy chromosome 4, Trisomy 4 mosaicism]","Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.",,,,,,,,, +GARD:19301,Active,Orphanet,ORPHA:96060,Disorder,[Malformation syndrome],Mosaic trisomy 5,"[Mosaic trisomy chromosome 5, Trisomy 5 mosaicism]","Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.",,,,,,,,, +GARD:19302,Active,Orphanet,ORPHA:96063,Disorder,[Malformation syndrome],Mosaic trisomy 10,"[Mosaic trisomy chromosome 10, Trisomy 10 mosaicism]","Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.",,,,,,,,, +GARD:19303,Active,Orphanet,ORPHA:96069,Disorder,[Malformation syndrome],Distal trisomy 1p36,"[Distal duplication 1p36, Telomeric duplication 1p36, Trisomy 1pter]","Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.",,,,,,,,, +GARD:19304,Active,Orphanet,ORPHA:96070,Disorder,[Malformation syndrome],Distal trisomy 2p,"[Distal duplication 2p, Telomeric duplication 2p, Trisomy 2pter]","Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.",,,,,,,,, +GARD:19305,Active,Orphanet,ORPHA:96071,Disorder,[Malformation syndrome],Distal trisomy 3p,"[Distal duplication 3p, Telomeric duplication 3p, Trisomy 3pter]","Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.",,,,,,,,, +GARD:19306,Active,Orphanet,ORPHA:96072,Disorder,[Malformation syndrome],4p16.3 microduplication syndrome,"[Distal duplication 4p, Distal trisomy 4p, Telomeric duplication 4p, Trisomy 4pter]","4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.",,,,,,,,, +GARD:19307,Active,Orphanet,ORPHA:96074,Disorder,[Malformation syndrome],Distal trisomy 7p,"[Distal duplication 7p, Telomeric duplication 7p, Trisomy 7pter]","Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.",,,,,,,,, +GARD:19308,Active,Orphanet,ORPHA:96076,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to 11p15 microduplication,,,,,,,,,,, +GARD:19309,Active,Orphanet,ORPHA:96092,Disorder,[Malformation syndrome],8p inverted duplication/deletion syndrome,"[Invdupdel(8p), Inverted 8p duplication/deletion syndrome]","A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%).",,,,,,,,, +GARD:19310,Active,Orphanet,ORPHA:96094,Disorder,[Malformation syndrome],Distal trisomy 2q,"[Distal duplication 2q, Telomeric duplication 2q, Trisomy 2qter]","Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.",,,,,,,,, +GARD:19311,Active,Orphanet,ORPHA:96095,Disorder,[Malformation syndrome],3q26 microduplication syndrome,"[Dup(3)(q26), Dup(3q) syndrome, Trisomy 3q26]","3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.",,,,,,,,, +GARD:19312,Active,Orphanet,ORPHA:96096,Disorder,[Malformation syndrome],Distal trisomy 4q,"[Distal duplication 4q, Telomeric duplication 4q, Trisomy 4qter]","Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.",,,,,,,,, +GARD:19313,Active,Orphanet,ORPHA:96097,Disorder,[Malformation syndrome],Distal trisomy 5q,"[Distal duplication 5q, Telomeric duplication 5q, Trisomy 5qter]","Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).",,,,,,,,, +GARD:19314,Active,Orphanet,ORPHA:96098,Disorder,[Malformation syndrome],Distal trisomy 6q,"[Distal duplication 6q, Telomeric duplication 6q, Trisomy 6qter]","Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.",,,,,,,,, +GARD:19315,Active,Orphanet,ORPHA:96100,Disorder,[Malformation syndrome],Distal trisomy 8q,"[Distal duplication 8q, Telomeric duplication 8q, Trisomy 8qter]","Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).",,,,,,,,, +GARD:19316,Active,Orphanet,ORPHA:96101,Disorder,[Malformation syndrome],Distal trisomy 9q,"[Distal duplication 9q, Telomeric duplication 9q, Trisomy 9qter]","Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.",,,,,,,,, +GARD:19317,Active,Orphanet,ORPHA:96102,Disorder,[Malformation syndrome],Distal trisomy 10q,"[Distal duplication 10q, Telomeric duplication 10q, Trisomy 10qter]","Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.",,,,,,,,, +GARD:19318,Active,Orphanet,ORPHA:96103,Disorder,[Malformation syndrome],Distal trisomy 11q,"[Distal duplication 11q, Telomeric duplication 11q, Trisomy 11qter]","Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.",,,,,,,,, +GARD:19319,Active,Orphanet,ORPHA:96105,Disorder,[Malformation syndrome],Distal trisomy 13q,"[Distal duplication 13q, Telomeric duplication 13q, Trisomy 13qter]","Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.",,,,,,,,, +GARD:19320,Active,Orphanet,ORPHA:96106,Disorder,[Malformation syndrome],Distal trisomy 16q,"[Distal duplication 16q, Telomeric duplication 16q, Trisomy 16qter]","Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.",,,,,,,,, +GARD:19321,Active,Orphanet,ORPHA:96107,Disorder,[Malformation syndrome],Distal trisomy 20q,"[Distal duplication 20q, Telomeric duplication 20q, Trisomy 20qter]","Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.",,,,,,,,, +GARD:19322,Active,Orphanet,ORPHA:96109,Disorder,[Malformation syndrome],Distal trisomy 22q,"[Distal duplication 22q, Telomeric duplication 22q, Trisomy 22qter]","Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.",,,,,,,,, +GARD:19323,Active,Orphanet,ORPHA:96112,Disorder,[Malformation syndrome],Non-distal trisomy 9q,"[Non-distal duplication 9q, Non-telomeric trisomy 9q]","Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.",,,,,,,,, +GARD:19324,Active,Orphanet,ORPHA:96123,Disorder,[Malformation syndrome],Monosomy 22,"[Del(22), Deletion 22]","A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.",,,,,,,,, +GARD:19325,Active,Orphanet,ORPHA:96126,Disorder,[Malformation syndrome],Distal monosomy 7p,"[Distal deletion 7p, Monosomy 7pter, Telomeric deletion 7p]","Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.",,,,,,,,, +GARD:19326,Active,Orphanet,ORPHA:96129,Disorder,[Malformation syndrome],Distal monosomy 19p13.3,"[Distal deletion 19p, Telomeric deletion 19p]","Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).",,,,,,,,, +GARD:19327,Active,Orphanet,ORPHA:96145,Disorder,[Malformation syndrome],Distal monosomy 4q,"[Distal deletion 4q, Monosomy 4qter, Telomeric deletion 4q]","Distal monosomy 4q is a partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.",,,,,,,,, +GARD:19328,Active,Orphanet,ORPHA:96149,Disorder,[Malformation syndrome],Distal monosomy 12q,"[Distal deletion 12q, Monosomy 12qter, Telomeric deletion 12q]",,,,,,,,,, +GARD:19329,Active,Orphanet,ORPHA:96150,Disorder,[Malformation syndrome],Distal monosomy 14q,"[Distal deletion 14q, Telomeric deletion 14q]","Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.",,,,,,,,, +GARD:19330,Active,Orphanet,ORPHA:96160,Disorder,[Malformation syndrome],Non-distal monosomy 12q,"[Non-distal deletion 12q, Non-telomeric monosomy 12q]","Non-distal monosomy 12q is a partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.",,,,,,,,, +GARD:19331,Active,Orphanet,ORPHA:96179,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 2,[UPD(2)mat],Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:19332,Active,Orphanet,ORPHA:96180,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 4,[UPD(4)mat],Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:19333,Active,Orphanet,ORPHA:96181,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 6,[UPD(6)mat],Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.,,,,,,,,, +GARD:19334,Active,Orphanet,ORPHA:96182,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7,[UPD(7)mat],"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).",,,,,,,,, +GARD:19335,Active,Orphanet,ORPHA:96183,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 9,[UPD(9)mat],Maternal uniparental disomy of chromosome 9 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:19336,Active,Orphanet,ORPHA:96185,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 16,[UPD(16)mat],"Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.",,,,,,,,, +GARD:19337,Active,Orphanet,ORPHA:96187,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 21,[UPD(21)mat],Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.,,,,,,,,, +GARD:19338,Active,Orphanet,ORPHA:96188,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 22,[UPD(22)mat],Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.,,,,,,,,, +GARD:19339,Active,Orphanet,ORPHA:96190,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 5,[UPD(5)pat],Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.,,,,,,,,, +GARD:19340,Active,Orphanet,ORPHA:96191,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 6,[UPD(6)pat],"Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.",,,,,,,,, +GARD:19341,Active,Orphanet,ORPHA:96192,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 7,[UPD(7)pat],"Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).",,,,,,,,, +GARD:19342,Active,Orphanet,ORPHA:96193,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11,"[Mosaic paternal uniparental disomy of chromosome 11, UPD(11)pat]",,,,,,,,,, +GARD:19343,Active,Orphanet,ORPHA:96194,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 20,"[Paternal UPD(20), UPD(20)pat]","Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b (see this term) testing and have UPD involving variable segments of the long arm of chromosome 20.",,,,,,,,, +GARD:19344,Active,Orphanet,ORPHA:96195,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 21,[UPD(21)pat],Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.,,,,,,,,, +GARD:19345,Active,Orphanet,ORPHA:96201,Disorder,[Malformation syndrome],X small rings,,"X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.",,,,,,,,, +GARD:19346,Active,Orphanet,ORPHA:96210,Group of disorders,[Category],Rare genetic deafness,[Rare genetic hearing loss],,,,,,,,,, +GARD:19347,Active,Orphanet,ORPHA:96269,Disorder,[Morphological anomaly],Isolated partial vaginal agenesis,[Congenital absence of vagina],"A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.",,,,,,,,, +GARD:19348,Active,Orphanet,ORPHA:96321,Group of disorders,[Category],Polyploidy,,,,,,,,,,, +GARD:19349,Active,Orphanet,ORPHA:96325,Group of disorders,[Category],Isochromosome Y,,,,,,,,,,, +GARD:19350,Active,Orphanet,ORPHA:96333,Group of disorders,[Category],Rare otorhinolaryngological malformation,,,,,,,,,,, +GARD:19351,Active,Orphanet,ORPHA:96346,Group of disorders,[Category],Anorectal malformation,[ARM],,,,,,,,,, +GARD:19352,Active,Orphanet,ORPHA:96369,Disorder,[Disease],Early-onset schizophrenia,,"A rare, neurologic disease characterized by an early onset of positive and negative symptoms of psychosis that impact development and cognitive functioning. Clinical manifestation commonly include premorbid features of autism spectrum disorders, attention deficits, neurodevelopmental delays, and behavioral abnormalities. After the onset of psychotic symptoms, other comorbidities are also common, including obsessive-compulsive disorder, major depressive disorder, attention deficit hyperactivity disorder, expressive and receptive language disorders, auditory processing deficits, and executive functioning deficits.",,,,,,,,, +GARD:19353,Active,Orphanet,ORPHA:97230,Disorder,[Disease],Solar urticaria,,"A rare photodermatosis characterized by an abrupt onset of transient erythema, wheals, and pruritus appearing within minutes of exposure to light.",,,,,,,,, +GARD:19354,Active,Orphanet,ORPHA:97240,Disorder,[Disease],Zebra body myopathy,,"Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.",,,,,,,,, +GARD:19355,Active,Orphanet,ORPHA:97252,Disorder,[Morphological anomaly],Mega-cisterna magna,,"A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients.",,,,,,,,, +GARD:19356,Active,Orphanet,ORPHA:97261,Disorder,[Disease],GRFoma,"[GRF tumor, Growth hormone releasing factor tumor]","GRFoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes growth hormone-releasing factor (GRF or GHRH) and that clinically resembles a pituitary adenoma (see this term) as patients present with acromegaly. In addition to the pancreas, this tumor can also occur in the lungs or small intestine, are usually large > 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1; see these terms).",,,,,,,,, +GARD:19357,Active,Orphanet,ORPHA:97275,Group of disorders,[Category],Encephalitis,,,,,,,,,,, +GARD:19358,Active,Orphanet,ORPHA:97278,Disorder,[Disease],PPoma,[Pancreatic polypeptidoma],"PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term).",,,,,,,,, +GARD:19359,Active,Orphanet,ORPHA:97285,Disorder,[Disease],Thyroid lymphoma,,"A rare primary organ-specific lymphoma characterized by primary origin in the thyroid gland, sometimes involving cervical lymph nodes, and infrequently more distant sites. Diffuse large B-cell lymphoma is most common, followed by MALT lymphoma, and follicular lymphoma. More rare types include T-cell lymphomas, Burkitt lymphoma, or classic Hodgkin lymphoma. The condition is usually associated with Hashimoto thyroiditis. Patients typically present with a mass in the thyroid, with or without cervical lymphadenopathy. Hoarseness and dyspnea may occur, while constitutional symptoms are rare. Prognosis is favorable for patients with localized tumors.",,,,,,,,, +GARD:19360,Active,Orphanet,ORPHA:97287,Disorder,[Disease],Bronchial neuroendocrine tumor,[Bronchial NET],"A rare neuroendocrine neoplasm characterized by origin from pulmonary neuroendocrine cells and ranging from low-grade typical carcinoid and intermediate-grade atypical carcinoid to high-grade large-cell neuroendocrine carcinoma and small-cell carcinoma. Two thirds of the tumors are located in the major bronchi, with a predilection for the right lung, in particular the middle lobe. Most patients with central bronchial tumors present with hemoptysis, cough, recurrent pulmonary infections, fever, chest discomfort, and unilateral wheezing, while peripheral carcinoids are usually discovered only incidentally. Carcinoid syndrome or Cushing syndrome are very rare. The tumors may be part of multiple endocrine neoplasia type 1.",,,,,,,,, +GARD:19361,Active,Orphanet,ORPHA:97289,Disorder,[Disease],Thymic neuroendocrine tumor,,"A rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome, respectively.",,,,,,,,, +GARD:19362,Active,Orphanet,ORPHA:97292,Disorder,[Particular clinical situation in a disease or syndrome],Cardiogenic shock,,"A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.",,,,,,,,, +GARD:19363,Active,Orphanet,ORPHA:97293,Group of disorders,[Category],Rare benign ovarian tumor,,,,,,,,,,, +GARD:19364,Active,Orphanet,ORPHA:97335,Disorder,[Disease],Osgood-Schlatter disease,"[Aseptic necrosis of the tibial tubercle, Osteochondrosis of the tibial tubercle]",Osgood-Schlatter disease is a traction apophysitis of the anterior tibial tubercle described in active adolescents and characterized by gradual onset of pain and swelling of the anterior knee causing limping that usually disappears at the end of growth.,,,,,,,,, +GARD:19365,Active,Orphanet,ORPHA:97336,Disorder,[Disease],Panner disease,"[Aseptic necrosis of the capital humerus, Osteochondrosis of the capital humerus]","Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum (see this term), occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.",,,,,,,,, +GARD:19366,Active,Orphanet,ORPHA:97337,Disorder,[Disease],Sinding-Larsen-Johansson disease,"[Aseptic necrosis of patella, Osteochondrosis of patella]",Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella.,,,,,,,,, +GARD:19367,Active,Orphanet,ORPHA:97338,Disorder,[Disease],Melanoma of soft tissue,[Clear cell sarcoma of the tendons and aponeuroses],"A rare soft tissue tumor characterized by a slowly growing mass typically involving tendons and aponeuroses of the extremities, composed of polygonal or spindle-shaped cells with melanocytic differentiation. The tumor typically affects young adults, who often present with pain or tenderness at the tumor site. Prognosis is poor with high recurrence rates and frequent metastasis, especially to lymph nodes, lung, and bones.",,,,,,,,, +GARD:19368,Active,Orphanet,ORPHA:97339,Disorder,[Morphological anomaly],Dural sinus malformation,"[Cranial dural arteriovenous fistula, Cranial dural arteriovenous malformations]","A rare neurovascular malformation characterized by massive dilation of one or more dural sinuses typically associated with arteriovenous shunts. Anatomic types are the lateral type involving the jugular bulb, which presents with minimal symptoms, and the usually symptomatic midline type involving the confluens sinuum (torcular Herophili) and adjacent posterior sinuses. Complications include sinus thrombosis, venous infarction, and cerebral hemorrhage, as well as cardiac failure, macrocrania, and hydrocephalus. Spontaneous regression of the malformation may occur.",,,,,,,,, +GARD:19369,Active,Orphanet,ORPHA:97341,Disorder,[Disease],Persistent placoid maculopathy,,"Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.",,,,,,,,, +GARD:19370,Active,Orphanet,ORPHA:97349,Disorder,[Disease],Postencephalitic parkinsonism,,,,,,,,,,, +GARD:19371,Active,Orphanet,ORPHA:97353,Disorder,[Disease],Dementia pugilistica,"[Boxer's dementia, Chronic traumatic encephalopathy, Punch-drunk syndrome]","A rare neurologic disease characterized by progressive neurodegeneration secondary to repetitive mild traumatic brain injuries. The clinical picture is highly variable and includes behavioral or psychiatric symptoms (such as aggression, depression, delusions, and suicidality), cognitive impairment (including diminished attention, memory deficits, executive functioning deficits, and dementia), and motor deficits (including parkinsonism, ataxia, and dysarthria). Neuropathological hallmark is the accumulation of phosphorylated tau-protein in sulci and perivascular regions.",,,,,,,,, +GARD:19372,Active,Orphanet,ORPHA:97355,Disorder,[Disease],Caribbean parkinsonism,[Atypical parkinsonism in the Caribbean],"Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.",,,,,,,,, +GARD:19373,Active,Orphanet,ORPHA:97361,Subtype of disorder,[Clinical subtype],"Renal hypoplasia, unilateral",,A form of renal hypoplasia characterized by unilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic with minimal risk of renal failure in childhood,,,,,,,,, +GARD:19374,Active,Orphanet,ORPHA:97362,Subtype of disorder,[Clinical subtype],"Renal hypoplasia, bilateral",,"A form of renal hypoplasia characterized by bilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic but may be associated with hypertension, and some excretory functional limitations, as well as eventual chronic renal failure.",,,,,,,,, +GARD:19375,Active,Orphanet,ORPHA:97363,Subtype of disorder,[Clinical subtype],Unilateral multicystic dysplastic kidney,"[Unilateral MCDK, Unilateral multicystic renal dysplasia]","A rare form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.",,,,,,,,, +GARD:19376,Active,Orphanet,ORPHA:97366,Disorder,[Morphological anomaly],Multiloculated renal cyst,"[Multilocular cyst of the kidney, Multilocular renal cyst]","A rare benign renal tumor characterized by a typically unilateral, solitary, multiloculated cystic mass consisting of small, non-communicating cysts with flat, cuboidal, or hobnail epithelial lining, separated by fibrous septa which may have an ovarian stroma-like appearance or be paucicellular. The tumor is surrounded by a thick fibrous capsule and does not contain solid areas or necrosis. Patients may be asymptomatic or present with a palpable abdominal mass and/or abdominal or flank pain. Age distribution is bimodal, the typical age of onset being either below five or between 40 and 70 years of age.",,,,,,,,, +GARD:19377,Active,Orphanet,ORPHA:97367,Subtype of disorder,[Etiological subtype],Renal tubular dysgenesis due to twin-twin transfusion,,"A rare acquired form of renal tubular dysgenesis that develops in donor fetuses due to the shunting of blood flow to the kidney of the recipient and characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).",,,,,,,,, +GARD:19378,Active,Orphanet,ORPHA:97368,Subtype of disorder,[Etiological subtype],Drug-related renal tubular dysgenesis,,,,,,,,,,, +GARD:19379,Active,Orphanet,ORPHA:97563,Subtype of disorder,[Clinical subtype],Pauci-immune glomerulonephritis with ANCA,[Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody],"A form of pauci-immune glomerulonephritis characterized by a rapidly progressive glomerulonephritis in association with the presence of circulating antineutrophilic cytoplasmic antibodies (ANCA), mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO). Patients usually present with urinary abnormalities and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.",,,,,,,,, +GARD:19380,Active,Orphanet,ORPHA:97564,Subtype of disorder,[Clinical subtype],Pauci-immune glomerulonephritis without ANCA,"[Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis, Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody]","A form of pauci-immune glomerulonephritis characterized by rapidly progressive glomerulonephritis and the absence of antineutrophilic cytoplasmic antibodies (ANCA). In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease, have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. The prognosis is generally poorer.",,,,,,,,, +GARD:19381,Active,Orphanet,ORPHA:97598,Disorder,[Disease],Congenital renal artery stenosis,[Congenital renovascular hypoplasia],"A rare renal disease characterized by congenital unilateral or bilateral narrowing of the renal artery leading to severe arterial hypertension and progressive renal failure in the neonate. Manifestations include hypertensive encephalopathy and/or neurological signs and symptoms due to hyponatremia, polyuria, renal electrolyte loss, proteinuria, and hematuria.",,,,,,,,, +GARD:19382,Active,Orphanet,ORPHA:97678,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 13,[UPD(13)mat],Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:19383,Active,Orphanet,ORPHA:97944,Group of disorders,[Category],Gastroduodenal malformation,,,,,,,,,,, +GARD:19384,Active,Orphanet,ORPHA:97945,Group of disorders,[Category],Intestinal malformation,,,,,,,,,,, +GARD:19385,Active,Orphanet,ORPHA:97957,Group of disorders,[Category],Respiratory or thoracic malformation,,,,,,,,,,, +GARD:19386,Active,Orphanet,ORPHA:98010,Group of disorders,[Category],Infectious disease of the nervous system,,,,,,,,,,, +GARD:19387,Active,Orphanet,ORPHA:98022,Group of disorders,[Category],Rare headache,,,,,,,,,,, +GARD:19388,Active,Orphanet,ORPHA:98027,Group of disorders,[Category],Rare disease with odontological manifestation,,,,,,,,,,, +GARD:19389,Active,Orphanet,ORPHA:98033,Group of disorders,[Category],Rare neurologic disease with psychiatric involvement,,,,,,,,,,, +GARD:19390,Active,Orphanet,ORPHA:98038,Group of disorders,[Category],Cranial malformation,,,,,,,,,,, +GARD:19391,Active,Orphanet,ORPHA:98039,Group of disorders,[Category],Digestive tract malformation,,,,,,,,,,, +GARD:19392,Active,Orphanet,ORPHA:98041,Group of disorders,[Category],"Visceral malformation of the liver, biliary tract, pancreas or spleen",,,,,,,,,,, +GARD:19393,Active,Orphanet,ORPHA:98043,Group of disorders,[Category],Diaphragmatic or abdominal wall malformation,,,,,,,,,,, +GARD:19394,Active,Orphanet,ORPHA:98044,Group of disorders,[Category],Central nervous system malformation,,,,,,,,,,, +GARD:19395,Active,Orphanet,ORPHA:98045,Group of disorders,[Category],Respiratory or mediastinal malformation,,,,,,,,,,, +GARD:19396,Active,Orphanet,ORPHA:98048,Group of disorders,[Category],Rare male infertility,,,,,,,,,,, +GARD:19397,Active,Orphanet,ORPHA:98049,Group of disorders,[Category],Rare female infertility,,,,,,,,,,, +GARD:19398,Active,Orphanet,ORPHA:98052,Group of disorders,[Category],Rare allergic respiratory disease,[Rare respiratory allergy],,,,,,,,,, +GARD:19399,Active,Orphanet,ORPHA:98054,Group of disorders,[Category],Rare genetic cardiac disease,,,,,,,,,,, +GARD:194,Active,Orphanet,ORPHA:2066,Disorder,[Disease],Gamma-aminobutyric acid transaminase deficiency,[GABA transaminase deficiency],"Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.",[613163],,,,,Gamma aminobutyric acid transaminase deficiency,TRUE,FALSE,Active +GARD:19400,Active,Orphanet,ORPHA:98056,Group of disorders,[Category],Rare genetic renal disease,,,,,,,,,,, +GARD:19401,Active,Orphanet,ORPHA:98057,Group of disorders,[Category],Rare tumor,[Rare neoplasm],,,,,,,,,, +GARD:19402,Active,Orphanet,ORPHA:98058,Group of disorders,[Category],Rare urinary tract tumor,"[Rare urinary tract cancer, Rare urinary tract neoplasm]",,,,,,,,,, +GARD:19403,Active,Orphanet,ORPHA:98059,Group of disorders,[Category],Rare digestive tumor,"[Rare digestive cancer, Rare digestive neoplasm]",,,,,,,,,, +GARD:19404,Active,Orphanet,ORPHA:98060,Group of disorders,[Category],Rare respiratory tumor,"[Rare respiratory cancer, Rare respiratory neoplasm]",,,,,,,,,, +GARD:19405,Active,Orphanet,ORPHA:98061,Group of disorders,[Category],Rare otorhinolaryngologic tumor,"[Rare ORL cancer, Rare ORL neoplasm, Rare ORL tumor]",,,,,,,,,, +GARD:19406,Active,Orphanet,ORPHA:98062,Group of disorders,[Category],Rare nervous system tumor,[Rare nervous system neoplasm],,,,,,,,,, +GARD:19407,Active,Orphanet,ORPHA:98063,Group of disorders,[Category],Rare gynecological tumor,"[Rare gynaecological cancer, Rare gynaecological neoplasm]",,,,,,,,,, +GARD:19408,Active,Orphanet,ORPHA:98074,Group of disorders,[Category],Gonadal dysgenesis of gynecological interest,,,,,,,,,,, +GARD:19409,Active,Orphanet,ORPHA:98078,Group of disorders,[Category],"46,XX disorder of sex development induced by androgens excess","[46,XX DSD induced by androgens excess]",,,,,,,,,, +GARD:19410,Active,Orphanet,ORPHA:98086,Group of disorders,[Category],"46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue",,,,,,,,,,, +GARD:19411,Active,Orphanet,ORPHA:98087,Group of disorders,[Category],"Syndrome with 46,XY disorder of sex development","[Syndrome with 46,XY DSD]",,,,,,,,,, +GARD:19412,Active,Orphanet,ORPHA:98095,Group of disorders,[Category],Autosomal recessive congenital cerebellar ataxia,,,,,,,,,,, +GARD:19413,Active,Orphanet,ORPHA:98096,Group of disorders,[Category],Autosomal recessive metabolic cerebellar ataxia,,,,,,,,,,, +GARD:19414,Active,Orphanet,ORPHA:98097,Group of disorders,[Category],Autosomal recessive cerebellar ataxia due to a DNA repair defect,,,,,,,,,,, +GARD:19415,Active,Orphanet,ORPHA:98098,Group of disorders,[Category],Autosomal recessive degenerative and progressive cerebellar ataxia,,,,,,,,,,, +GARD:19416,Active,Orphanet,ORPHA:98099,Group of disorders,[Category],Autosomal recessive syndromic cerebellar ataxia,,,,,,,,,,, +GARD:19417,Active,Orphanet,ORPHA:98127,Group of disorders,[Category],Autosomal anomaly,,,,,,,,,,, +GARD:19418,Active,Orphanet,ORPHA:98130,Group of disorders,[Category],Autosomal trisomy,[Autosomal duplication],,,,,,,,,, +GARD:19419,Active,Orphanet,ORPHA:98131,Group of disorders,[Category],Total autosomal trisomy,,,,,,,,,,, +GARD:19420,Active,Orphanet,ORPHA:98132,Group of disorders,[Category],Partial autosomal trisomy/tetrasomy,,,,,,,,,,, +GARD:19421,Active,Orphanet,ORPHA:98141,Group of disorders,[Category],Total autosomal monosomy,,,,,,,,,,, +GARD:19422,Active,Orphanet,ORPHA:98142,Group of disorders,[Category],Partial autosomal monosomy,[Partial autosomal deletion],,,,,,,,,, +GARD:19423,Active,Orphanet,ORPHA:98152,Group of disorders,[Category],Autosomal uniparental disomy,,,,,,,,,,, +GARD:19424,Active,Orphanet,ORPHA:98153,Group of disorders,[Category],Maternal uniparental disomy,,,,,,,,,,, +GARD:19425,Active,Orphanet,ORPHA:98154,Group of disorders,[Category],Paternal uniparental disomy,,,,,,,,,,, +GARD:19426,Active,Orphanet,ORPHA:98155,Group of disorders,[Category],Sex-chromosome anomaly,[Allosome anomaly],,,,,,,,,, +GARD:19427,Active,Orphanet,ORPHA:98156,Group of disorders,[Category],Sex-chromosome number anomaly,[Allosome number anomaly],,,,,,,,,, +GARD:19428,Active,Orphanet,ORPHA:98157,Group of disorders,[Category],Sex-chromosome structural anomaly,[Allosome structural anomaly],,,,,,,,,, +GARD:19429,Active,Orphanet,ORPHA:98158,Group of disorders,[Category],Chromosome Y structural anomaly,,,,,,,,,,, +GARD:19430,Active,Orphanet,ORPHA:98159,Group of disorders,[Category],Chromosome X structural anomaly,,,,,,,,,,, +GARD:19431,Active,Orphanet,ORPHA:98196,Group of disorders,[Category],Malformation syndrome with hamartosis,[Dysmorphologic diseases with phakomatosis],,,,,,,,,, +GARD:19432,Active,Orphanet,ORPHA:98203,Group of disorders,[Category],Combined dystonia,[Dystonia-plus syndrome],,,,,,,,,, +GARD:19433,Active,Orphanet,ORPHA:98252,Group of disorders,[Category],Infectious encephalitis,,,,,,,,,,, +GARD:19434,Active,Orphanet,ORPHA:98255,Group of disorders,[Category],Chronic encephalitis,,,,,,,,,,, +GARD:19435,Active,Orphanet,ORPHA:98257,Group of disorders,[Category],Neonatal epilepsy syndrome,,,,,,,,,,, +GARD:19436,Active,Orphanet,ORPHA:98258,Group of disorders,[Category],Infantile epilepsy syndrome,,,,,,,,,,, +GARD:19437,Active,Orphanet,ORPHA:98259,Group of disorders,[Category],Childhood-onset epilepsy syndrome,,,,,,,,,,, +GARD:19438,Active,Orphanet,ORPHA:98260,Group of disorders,[Category],Adolescent-onset epilepsy syndrome,,,,,,,,,,, +GARD:19439,Active,Orphanet,ORPHA:98267,Disorder,[Disease],Genetic non-syndromic obesity,[Monogenic obesity due to a leptin-melanocortin pathway anomaly],"A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others.",,,,,,,,, +GARD:19440,Active,Orphanet,ORPHA:98282,Group of disorders,[Category],Plasma cell tumor,,,,,,,,,,, +GARD:19441,Active,Orphanet,ORPHA:98287,Group of disorders,[Category],Histiocytic and dendritic cell tumor,,,,,,,,,,, +GARD:19442,Active,Orphanet,ORPHA:98288,Group of disorders,[Category],Macrophage or histiocytic tumor,,,,,,,,,,, +GARD:19443,Active,Orphanet,ORPHA:98290,Group of disorders,[Category],Immunodeficiency-associated lymphoproliferative disease,,,,,,,,,,, +GARD:19444,Active,Orphanet,ORPHA:98301,Group of disorders,[Category],Laminopathy,,,,,,,,,,, +GARD:19445,Active,Orphanet,ORPHA:98313,Group of disorders,[Category],Male infertility due to gonadal dysgenesis,[Male infertility due to testicular dysgenesis],,,,,,,,,, +GARD:19446,Active,Orphanet,ORPHA:98343,Group of disorders,[Category],Male infertility due to obstructive azoospermia,[Male infertility due to impaired sperm transport],,,,,,,,,, +GARD:19447,Active,Orphanet,ORPHA:98349,Group of disorders,[Category],Autosomal dominant isolated diffuse palmoplantar keratoderma,[Autosomal dominant isolated diffuse palmoplantar hyperkeratosis],,,,,,,,,, +GARD:19448,Active,Orphanet,ORPHA:98352,Group of disorders,[Category],Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature,[Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:19449,Active,Orphanet,ORPHA:98353,Group of disorders,[Category],Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature,[Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:19450,Active,Orphanet,ORPHA:98356,Group of disorders,[Category],Autosomal recessive isolated diffuse palmoplantar keratoderma,[Autosomal recessive isolated diffuse palmoplantar hyperkeratosis],,,,,,,,,, +GARD:19451,Active,Orphanet,ORPHA:98357,Group of disorders,[Category],Autosomal recessive disease with focal palmoplantar keratoderma as a major feature,[Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:19452,Active,Orphanet,ORPHA:98360,Group of disorders,[Category],Constitutional anemia due to iron metabolism disorder,,,,,,,,,,, +GARD:19453,Active,Orphanet,ORPHA:98362,Group of disorders,[Category],Constitutional sideroblastic anemia,,,,,,,,,,, +GARD:19454,Active,Orphanet,ORPHA:98363,Group of disorders,[Category],Rare hemolytic anemia,,,,,,,,,,, +GARD:19455,Active,Orphanet,ORPHA:98364,Group of disorders,[Category],Rare constitutional hemolytic anemia due to a red cell membrane anomaly,,,,,,,,,,, +GARD:19456,Active,Orphanet,ORPHA:98365,Group of disorders,[Clinical group],Hereditary stomatocytosis,[Hereditary stomatocytic disease],,,,,,,,,, +GARD:19457,Active,Orphanet,ORPHA:98366,Group of disorders,[Category],Constitutional hemolytic anemia due to acanthocytosis,[Constitutional hemolytic anemia due to acanthocytic disorder],,,,,,,,,, +GARD:19458,Active,Orphanet,ORPHA:98369,Group of disorders,[Category],Rare constitutional hemolytic anemia due to an enzyme disorder,,,,,,,,,,, +GARD:19459,Active,Orphanet,ORPHA:98370,Group of disorders,[Category],Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies,,,,,,,,,,, +GARD:19460,Active,Orphanet,ORPHA:98372,Group of disorders,[Category],Hemolytic anemia due to a disorder of glycolytic enzymes,,,,,,,,,,, +GARD:19461,Active,Orphanet,ORPHA:98374,Group of disorders,[Category],Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder,[Hemolytic anemia due to an erythroenzymopathy],,,,,,,,,, +GARD:19462,Active,Orphanet,ORPHA:98396,Group of disorders,[Category],Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder,,,,,,,,,,, +GARD:19463,Active,Orphanet,ORPHA:98408,Group of disorders,[Category],Constitutional megaloblastic anemia due to folate metabolism disorder,,,,,,,,,,, +GARD:19464,Active,Orphanet,ORPHA:98415,Group of disorders,[Category],Vitamin B12- and folate-independent constitutional megaloblastic anemia,,,,,,,,,,, +GARD:19465,Active,Orphanet,ORPHA:98421,Group of disorders,[Clinical group],Primary acquired red cell aplasia,[Primary autoimmune red cell aplasia],,,,,,,,,, +GARD:19466,Active,Orphanet,ORPHA:98427,Group of disorders,[Clinical group],Polycythemia,,,,,,,,,,, +GARD:19467,Active,Orphanet,ORPHA:98428,Group of disorders,[Category],Secondary polycythemia,[Secondary erythrocytosis],Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms).,,,,,,,,, +GARD:19468,Active,Orphanet,ORPHA:98429,Group of disorders,[Category],Rare coagulation disorder,,,,,,,,,,, +GARD:19469,Active,Orphanet,ORPHA:98455,Group of disorders,[Category],Alpha granule disease,,,,,,,,,,, +GARD:19470,Active,Orphanet,ORPHA:98456,Group of disorders,[Category],Dense granule disease,[Delta granule disease],,,,,,,,,, +GARD:19471,Active,Orphanet,ORPHA:98472,Group of disorders,[Category],Skeletal muscle disease,,,,,,,,,,, +GARD:19472,Active,Orphanet,ORPHA:98486,Group of disorders,[Category],Metabolic myopathy,,,,,,,,,,, +GARD:19473,Active,Orphanet,ORPHA:98491,Group of disorders,[Category],Neuromuscular junction disease,,,,,,,,,,, +GARD:19474,Active,Orphanet,ORPHA:98494,Group of disorders,[Category],Acquired neuromuscular junction disease,,,,,,,,,,, +GARD:19475,Active,Orphanet,ORPHA:98495,Group of disorders,[Category],Genetic neuromuscular junction disease,,,,,,,,,,, +GARD:19476,Active,Orphanet,ORPHA:98496,Group of disorders,[Category],Rare peripheral neuropathy,,,,,,,,,,, +GARD:19477,Active,Orphanet,ORPHA:98503,Group of disorders,[Category],Motor neuron disease,[Anterior horn cell disease],,,,,,,,,, +GARD:19478,Active,Orphanet,ORPHA:98505,Group of disorders,[Category],Genetic motor neuron disease,[Genetic anterior horn cell disease],,,,,,,,,, +GARD:19479,Active,Orphanet,ORPHA:98506,Group of disorders,[Category],Acquired motor neuron disease,[Acquired anterior horn cell disease],,,,,,,,,, +GARD:19480,Active,Orphanet,ORPHA:98514,Group of disorders,[Category],Malformation of the cerebellar vermis,,,,,,,,,,, +GARD:19481,Active,Orphanet,ORPHA:98516,Group of disorders,[Category],Malformation of the cerebellar hemispheres,,,,,,,,,,, +GARD:19482,Active,Orphanet,ORPHA:98518,Group of disorders,[Category],Cranial nerve and nuclear aplasia,,,,,,,,,,, +GARD:19483,Active,Orphanet,ORPHA:98519,Group of disorders,[Category],Posterior fossa malformation,,,,,,,,,,, +GARD:19484,Active,Orphanet,ORPHA:98534,Group of disorders,[Category],Neurodegenerative disease with dementia,,,,,,,,,,, +GARD:19485,Active,Orphanet,ORPHA:98535,Group of disorders,[Clinical group],Frontotemporal degeneration with dementia,,,,,,,,,,, +GARD:19486,Active,Orphanet,ORPHA:98538,Group of disorders,[Category],Ataxia with dementia,,,,,,,,,,, +GARD:19487,Active,Orphanet,ORPHA:98539,Group of disorders,[Category],Early-onset ataxia with dementia,,,,,,,,,,, +GARD:19488,Active,Orphanet,ORPHA:98540,Group of disorders,[Category],Late-onset ataxia with dementia,,,,,,,,,,, +GARD:19489,Active,Orphanet,ORPHA:98542,Group of disorders,[Category],Infectious disease with dementia,,,,,,,,,,, +GARD:19490,Active,Orphanet,ORPHA:98543,Group of disorders,[Category],Metabolic disease with dementia,,,,,,,,,,, +GARD:19491,Active,Orphanet,ORPHA:98544,Group of disorders,[Category],Cerebral lipidosis with dementia,,,,,,,,,,, +GARD:19492,Active,Orphanet,ORPHA:98549,Group of disorders,[Category],Rare cerebrovascular dementia,,,,,,,,,,, +GARD:19493,Active,Orphanet,ORPHA:98555,Group of disorders,[Category],Microphthalmia-anophthalmia-coloboma,[Anophthalmia-microphthalmia syndrome],,,,,,,,,, +GARD:19494,Active,Orphanet,ORPHA:98557,Group of disorders,[Category],Syndromic aniridia,,,,,,,,,,, +GARD:19495,Active,Orphanet,ORPHA:98560,Group of disorders,[Category],Rare palpebral disorder,,,,,,,,,,, +GARD:19496,Active,Orphanet,ORPHA:98561,Group of disorders,[Category],Congenital malformation of the eyelid,,,,,,,,,,, +GARD:19497,Active,Orphanet,ORPHA:98563,Group of disorders,[Clinical group],Microblepharon-ablephara syndrome,,,,,,,,,,, +GARD:19498,Active,Orphanet,ORPHA:98564,Group of disorders,[Category],Eyelid border anomaly,,,,,,,,,,, +GARD:19499,Active,Orphanet,ORPHA:98565,Group of disorders,[Category],Syndromic ankyloblepharon filiforme adnatum,[Syndromic ankyloblepharon],,,,,,,,,, +GARD:195,Active,Orphanet,ORPHA:682,Disorder,[Disease],Hyperkalemic periodic paralysis,"[Adynamia episodica hereditaria, Familial hyperPP, Familial hyperkalemic periodic paralysis, Gamstorp disease, Gamstorp episodic adynamy, HYPP, HyperKPP, HyperPP, Hyperkalemic PP, Primary hyperPP, Primary hyperkalemic periodic paralysis]",A rare muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.,[170500],,,,,Hyperkalemic periodic paralysis,TRUE,FALSE,Active +GARD:19500,Active,Orphanet,ORPHA:98566,Group of disorders,[Category],Syndromic eyelid coloboma,[Syndromic palpebral coloboma],,,,,,,,,, +GARD:19501,Active,Orphanet,ORPHA:98567,Group of disorders,[Category],Rare eyelid malposition disorder,[Eyelids malposition disorder],,,,,,,,,, +GARD:19502,Active,Orphanet,ORPHA:98570,Group of disorders,[Category],Congenital ectropion,,,,,,,,,,, +GARD:19503,Active,Orphanet,ORPHA:98571,Group of disorders,[Category],Secondary ectropion,,,,,,,,,,, +GARD:19504,Active,Orphanet,ORPHA:98574,Group of disorders,[Category],Syndromic epicanthus,,,,,,,,,,, +GARD:19505,Active,Orphanet,ORPHA:98575,Group of disorders,[Category],Syndromic telecanthus,,,,,,,,,,, +GARD:19506,Active,Orphanet,ORPHA:98576,Group of disorders,[Category],Syndromic outer canthal malposition,[Malposition of external canthus],,,,,,,,,, +GARD:19507,Active,Orphanet,ORPHA:98578,Group of disorders,[Category],Rare disorder with ptosis,,,,,,,,,,, +GARD:19508,Active,Orphanet,ORPHA:98594,Group of disorders,[Category],Rare eyebrow/eyelash disorder,[Rare eyebrow/eyelashes anomaly],,,,,,,,,, +GARD:19509,Active,Orphanet,ORPHA:98602,Group of disorders,[Category],Rare disorder of the lacrimal apparatus,[Rare lacrimal system disease],,,,,,,,,, +GARD:19510,Active,Orphanet,ORPHA:98604,Group of disorders,[Category],Congenital alacrima,,,,,,,,,,, +GARD:19511,Active,Orphanet,ORPHA:98605,Group of disorders,[Category],Lacrimal drainage system anomaly,[Excretory apparatus of the lacrimal system anomaly],,,,,,,,,, +GARD:19512,Active,Orphanet,ORPHA:98609,Group of disorders,[Category],EEC syndrome and related disorders,"[EEC syndrome and related syndrome, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders]",,,,,,,,,, +GARD:19513,Active,Orphanet,ORPHA:98610,Group of disorders,[Category],Rare disorder with conjunctival involvement as a major feature,,,,,,,,,,, +GARD:19514,Active,Orphanet,ORPHA:98618,Group of disorders,[Category],Rare refraction anomaly,,,,,,,,,,, +GARD:19515,Active,Orphanet,ORPHA:98621,Group of disorders,[Category],Rare hyperopia and astigmatism,,,,,,,,,,, +GARD:19516,Active,Orphanet,ORPHA:98622,Group of disorders,[Category],Syndromic hyperopia,,,,,,,,,,, +GARD:19517,Active,Orphanet,ORPHA:98623,Group of disorders,[Category],Syndromic keratoconus,,,,,,,,,,, +GARD:19518,Active,Orphanet,ORPHA:98625,Group of disorders,[Category],Superficial corneal dystrophy,[Anterior corneal dystrophy],"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.",,,,,,,,, +GARD:19519,Active,Orphanet,ORPHA:98626,Group of disorders,[Category],Stromal corneal dystrophy,,"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.",,,,,,,,, +GARD:19520,Active,Orphanet,ORPHA:98627,Group of disorders,[Category],Posterior corneal dystrophy,,"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.",,,,,,,,, +GARD:19521,Active,Orphanet,ORPHA:98628,Group of disorders,[Category],Syndromic corneal dystrophy,,,,,,,,,,, +GARD:19522,Active,Orphanet,ORPHA:98631,Group of disorders,[Category],Congenital malformation of the eye with glaucoma as a major feature,,,,,,,,,,, +GARD:19523,Active,Orphanet,ORPHA:98635,Group of disorders,[Category],Corneodysgenesis,[Corneogoniodysgenesis],,,,,,,,,, +GARD:19524,Active,Orphanet,ORPHA:98638,Group of disorders,[Category],Rare disease with glaucoma as a major feature,,,,,,,,,,, +GARD:19525,Active,Orphanet,ORPHA:98639,Group of disorders,[Category],Rare lens disease,,,,,,,,,,, +GARD:19526,Active,Orphanet,ORPHA:98640,Group of disorders,[Category],Rare disorder with lens opacification,[Rare cataract],,,,,,,,,, +GARD:19527,Active,Orphanet,ORPHA:98641,Group of disorders,[Category],Syndromic cataract,,,,,,,,,,, +GARD:19528,Active,Orphanet,ORPHA:98642,Group of disorders,[Category],Chromosomal anomaly with cataract,,,,,,,,,,, +GARD:19529,Active,Orphanet,ORPHA:98644,Group of disorders,[Category],Metabolic disease with cataract,,,,,,,,,,, +GARD:19530,Active,Orphanet,ORPHA:98646,Group of disorders,[Category],Renal disease with cataract,,,,,,,,,,, +GARD:19531,Active,Orphanet,ORPHA:98648,Group of disorders,[Category],Musculoskeletal disease with cataract,,,,,,,,,,, +GARD:19532,Active,Orphanet,ORPHA:98649,Group of disorders,[Category],Dentocutaneous disease with cataract,,,,,,,,,,, +GARD:19533,Active,Orphanet,ORPHA:98650,Group of disorders,[Category],Craniofacial anomaly with cataract,,,,,,,,,,, +GARD:19534,Active,Orphanet,ORPHA:98652,Group of disorders,[Category],Lens size anomaly,,,,,,,,,,, +GARD:19535,Active,Orphanet,ORPHA:98653,Group of disorders,[Category],Lens position anomaly,,,,,,,,,,, +GARD:19536,Active,Orphanet,ORPHA:98655,Group of disorders,[Category],Lens shape anomaly,,,,,,,,,,, +GARD:19537,Active,Orphanet,ORPHA:98658,Group of disorders,[Category],Color-vision disease,,,,,,,,,,, +GARD:19538,Active,Orphanet,ORPHA:98661,Group of disorders,[Category],Syndromic rod-cone dystrophy,[Syndromic retinitis pigmentosa],,,,,,,,,, +GARD:19539,Active,Orphanet,ORPHA:98668,Group of disorders,[Category],Vitreoretinopathy,,,,,,,,,,, +GARD:19540,Active,Orphanet,ORPHA:98671,Group of disorders,[Category],Hereditary optic neuropathy,,,,,,,,,,, +GARD:19541,Active,Orphanet,ORPHA:98681,Group of disorders,[Category],Rare disorder with strabismus,,,,,,,,,,, +GARD:19542,Active,Orphanet,ORPHA:98683,Group of disorders,[Category],Syndromic disorder with strabismus,[Syndrome with a symptomatic strabismus],,,,,,,,,, +GARD:19543,Active,Orphanet,ORPHA:98684,Group of disorders,[Category],Craniostenosis with strabismus,,,,,,,,,,, +GARD:19544,Active,Orphanet,ORPHA:98685,Group of disorders,[Category],Rare oculomotor nerve disorder,,,,,,,,,,, +GARD:19545,Active,Orphanet,ORPHA:98686,Disorder,[Disease],Congenital trochlear nerve palsy,"[Congenital CNIV palsy, Congenital fourth cranial nerve palsy, Congenital superior oblique palsy]","A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.",,,,,,,,, +GARD:19546,Active,Orphanet,ORPHA:98687,Group of disorders,[Category],Supranuclear eye movement disorder,,,,,,,,,,, +GARD:19547,Active,Orphanet,ORPHA:98688,Group of disorders,[Category],Oculomotor apraxia,,,,,,,,,,, +GARD:19548,Active,Orphanet,ORPHA:98706,Group of disorders,[Category],Oculocutaneous or ocular albinism,,,,,,,,,,, +GARD:19549,Active,Orphanet,ORPHA:98715,Group of disorders,[Category],Uveitis,,,,,,,,,,, +GARD:19550,Active,Orphanet,ORPHA:98716,Group of disorders,[Category],Heart position anomaly,,,,,,,,,,, +GARD:19551,Active,Orphanet,ORPHA:98717,Group of disorders,[Category],Transposition of the great arteries and conotruncal cardiac anomaly,,,,,,,,,,, +GARD:19552,Active,Orphanet,ORPHA:98718,Group of disorders,[Category],Aortic malformation,,,,,,,,,,, +GARD:19553,Active,Orphanet,ORPHA:98719,Group of disorders,[Category],Pulmonary artery or pulmonary branch anomaly,,,,,,,,,,, +GARD:19554,Active,Orphanet,ORPHA:98720,Group of disorders,[Category],Atrioventricular valve anomaly,,,,,,,,,,, +GARD:19555,Active,Orphanet,ORPHA:98721,Group of disorders,[Category],Congenital tricuspid malformation,,,,,,,,,,, +GARD:19556,Active,Orphanet,ORPHA:98724,Group of disorders,[Category],Congenital anomaly of the great arteries,"[Congenital aorta, aortic arch or pulmonary arteries anomaly]",,,,,,,,,, +GARD:19557,Active,Orphanet,ORPHA:98725,Group of disorders,[Category],Ascending aorta anomaly,,,,,,,,,,, +GARD:19558,Active,Orphanet,ORPHA:98727,Group of disorders,[Category],Rare atrial defect and interatrial communication,[Atrial defect and interauricular communication],,,,,,,,,, +GARD:19559,Active,Orphanet,ORPHA:98729,Group of disorders,[Category],Congenital pulmonary veins anomaly,,,,,,,,,,, +GARD:19560,Active,Orphanet,ORPHA:98731,Group of disorders,[Category],Congenital arteriovenous fistula,,"A rare simple vascular malformation characterized by a congenital abnormal connection between an artery and a vein, appearing as varicose veins with port wine discoloration, leading to a bypass of the capillary bed. Signs and symptoms include palpable continuous thrill in the dilated vessels, continuous machinery murmur with systolic accentuation, collapsing arterial pulse, Nicoladoni Branham sign, as well as local gigantism and hot ulcers due to hypoxia, among others.",,,,,,,,, +GARD:19561,Active,Orphanet,ORPHA:98733,Group of disorders,[Category],Noonan syndrome and Noonan-related syndrome,,,,,,,,,,, +GARD:19562,Active,Orphanet,ORPHA:98737,Group of disorders,[Category],Genetic neurological muscular channelopathy,,,,,,,,,,, +GARD:19563,Active,Orphanet,ORPHA:98738,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic sodium channel defect,,,,,,,,,,, +GARD:19564,Active,Orphanet,ORPHA:98739,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic chloride channel defect,,,,,,,,,,, +GARD:19565,Active,Orphanet,ORPHA:98740,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic calcium channel defect,,,,,,,,,,, +GARD:19566,Active,Orphanet,ORPHA:98741,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic potassium channel defect,,,,,,,,,,, +GARD:19567,Active,Orphanet,ORPHA:98742,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic ryanodine receptor defect,,,,,,,,,,, +GARD:19568,Active,Orphanet,ORPHA:98743,Group of disorders,[Category],Genetic neurological channelopathy of the central nervous system,,,,,,,,,,, +GARD:19569,Active,Orphanet,ORPHA:98744,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic sodium channel defect,,,,,,,,,,, +GARD:19570,Active,Orphanet,ORPHA:98745,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic calcium channel defect,,,,,,,,,,, +GARD:19571,Active,Orphanet,ORPHA:98746,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic potassium channel defect,,,,,,,,,,, +GARD:19572,Active,Orphanet,ORPHA:98747,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect,,,,,,,,,,, +GARD:19573,Active,Orphanet,ORPHA:98748,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect,,,,,,,,,,, +GARD:19574,Active,Orphanet,ORPHA:98749,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect,,,,,,,,,,, +GARD:19575,Active,Orphanet,ORPHA:98750,Group of disorders,[Category],Autoimmune neurological channelopathy,,,,,,,,,,, +GARD:19576,Active,Orphanet,ORPHA:98793,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to paternal 15q11q13 deletion,,,,,,,,,,, +GARD:19577,Active,Orphanet,ORPHA:98794,Subtype of disorder,[Etiological subtype],Angelman syndrome due to maternal 15q11q13 deletion,[Angelman syndrome due to maternal monosomy 15q11q13],,,,,,,,,, +GARD:19578,Active,Orphanet,ORPHA:98795,Subtype of disorder,[Etiological subtype],Angelman syndrome due to paternal uniparental disomy of chromosome 15,[UPD(15)pat],,,,,,,,,, +GARD:19579,Active,Orphanet,ORPHA:98797,Disorder,[Malformation syndrome],Isochromosomy Yp,,"Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.",,,,,,,,, +GARD:19580,Active,Orphanet,ORPHA:98798,Disorder,[Malformation syndrome],Isochromosomy Yq,,"Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.",,,,,,,,, +GARD:19581,Active,Orphanet,ORPHA:98815,Subtype of disorder,[Clinical subtype],"Benign childhood occipital epilepsy, Panayiotopoulos type","[Early-onset benign childhood occipital epilepsy, Panayiotopoulos syndrome]","Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.",,,,,,,,, +GARD:19582,Active,Orphanet,ORPHA:98816,Subtype of disorder,[Clinical subtype],"Benign childhood occipital epilepsy, Gastaut type",[Late-onset benign childhood occipital epilepsy],"Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.",,,,,,,,, +GARD:19583,Active,Orphanet,ORPHA:98824,Disorder,[Disease],Atypical chronic myeloid leukemia,[Subacute myeloid leukemia],"A rare myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood leukocytosis due to increased numbers of morphologically dysplastic neutrophils and their precursors, hypercellular bone marrow with granulocytic proliferation and dysplasia (with or without dysplasia in the erythroid and megakaryocytic lineages), and prominent dysgranulopoiesis, but no or minimal absolute basophilia or monocytosis. Blasts account for less than 20% of leukocytes in the blood and bone marrow. BCR-ABL1 fusion is absent, as well as PDGFRA, PDGFRB or FGFR1 rearrangement, or PCM1-JAK2. Patients may present with signs and symptoms related to splenomegaly, anemia, or thrombocytopenia. Prognosis is generally poor.",,,,,,,,, +GARD:19584,Active,Orphanet,ORPHA:98825,Disorder,[Disease],Unclassified myelodysplastic/myeloproliferative disease,[Unclassified mixed myelodysplastic/myeloproliferatic syndrome],"A rare myelodysplastic/myeloproliferative neoplasm characterized by clinical, laboratory, and morphological features of both myelodysplastic syndrome and myeloproliferative neoplasm at onset, in the absence of recent cytotoxic or growth factor therapy, and without Philadelphia chromosome, BCR-ABL1 or PCM1-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1. Cases of a previously well-defined myeloproliferative neoplasm developing dysplastic features are excluded, and the criteria for any other myelodysplastic/myeloproliferative neoplasm, myelodysplastic syndrome, or myeloproliferative neoplasm are not met.",,,,,,,,, +GARD:19585,Active,Orphanet,ORPHA:98826,Disorder,[Disease],Refractory anemia,,Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.,,,,,,,,, +GARD:19586,Active,Orphanet,ORPHA:98827,Disorder,[Disease],Unclassified myelodysplastic syndrome,,Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance.,,,,,,,,, +GARD:19587,Active,Orphanet,ORPHA:98831,Disorder,[Disease],Acute myeloid leukemia with 11q23 abnormalities,[AML with 11q23 abnormalities],"A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss.",,,,,,,,, +GARD:19588,Active,Orphanet,ORPHA:98832,Disorder,[Disease],Acute myeloid leukemia with minimal differentiation,"[AML M0, Minimally differentiated acute myeloblastic leukemia]","A rare subtype of acute myeloid leukemia characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood or other tissues. It usually presents with anemia, thrombocytopenia and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Low remission rates are reported.",,,,,,,,, +GARD:19589,Active,Orphanet,ORPHA:98838,Disorder,[Disease],Primary mediastinal large B-cell lymphoma,"[Large cell lymphoma of the mediastinum, Med-DLBCL, Mediastinal diffuse large-cell lymphoma with sclerosis, Primary mediastinal clear cell lymphoma of B-cell type]","A rare subtype of diffuse large B-cell lymphoma (DLBCL), arising from B cells of thymic origin, predominantly affecting women between the ages of 20-30, and that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome.",,,,,,,,, +GARD:19590,Active,Orphanet,ORPHA:98839,Disorder,[Disease],Intravascular large B-cell lymphoma,"[Angioendotheliomatosis proliferans systemisata, Angiotropic large cell lymphoma, Intravascular lymphomatosis, Malignant angioendotheliomatosis, Tappeiner-Pfleger disease]","Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.",,,,,,,,, +GARD:19591,Active,Orphanet,ORPHA:98843,Subtype of disorder,[Histopathological subtype],"Classic Hodgkin lymphoma, nodular sclerosis type",,,,,,,,,,, +GARD:19592,Active,Orphanet,ORPHA:98844,Subtype of disorder,[Histopathological subtype],"Classic Hodgkin lymphoma, mixed cellularity type",,,,,,,,,,, +GARD:19593,Active,Orphanet,ORPHA:98845,Subtype of disorder,[Histopathological subtype],"Classic Hodgkin lymphoma, lymphocyte-rich type",,,,,,,,,,, +GARD:19594,Active,Orphanet,ORPHA:98846,Subtype of disorder,[Histopathological subtype],"Classic Hodgkin lymphoma, lymphocyte-depleted type",,,,,,,,,,, +GARD:19595,Active,Orphanet,ORPHA:98848,Disorder,[Disease],Indolent systemic mastocytosis,,"A rare, usually benign, chronic, form of systemic mastocytosis (SM) characterized by an abnormal accumulation of neoplastic mast cells (MCs) mainly in the bone marrow (BM) but also in other organs or tissues such as preferably the skin.",,,,,,,,, +GARD:19596,Active,Orphanet,ORPHA:98849,Disorder,[Disease],Systemic mastocytosis with associated hematologic neoplasm,"[SM-AHN, SM-AHNMD, Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease]","An advanced form of systemic mastocytosis (SM) characterized by the abnormal accumulation of neoplastic mast cells (MCs) in one or more extracutaneous organs, mainly the bone marrow, associated with another hematologic neoplasm of non MC nature.",,,,,,,,, +GARD:19597,Active,Orphanet,ORPHA:98850,Disorder,[Disease],Aggressive systemic mastocytosis,,"A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm.",,,,,,,,, +GARD:19598,Active,Orphanet,ORPHA:98851,Disorder,[Disease],Mast cell leukemia,,"A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow).",,,,,,,,, +GARD:19599,Active,Orphanet,ORPHA:98888,Group of disorders,[Clinical group],X-linked complex spastic paraplegia,"[Complex X-linked HSP, Complex X-linked SPG, Complicated X-linked HSP, Complicated X-linked SPG, X-linked complicated spastic paraplegia]",,,,,,,,,, +GARD:196,Legacy,GARD,,,,,,,,,,,,St Anthony's fire,TRUE,FALSE,Active +GARD:19600,Active,Orphanet,ORPHA:98910,Group of disorders,[Clinical group],Alpha-crystallinopathy,[CRYAB-related myofobrillar myopathy],,,,,,,,,, +GARD:19601,Active,Orphanet,ORPHA:98917,Disorder,[Disease],Acute motor and sensory axonal neuropathy,"[AMSAN, Acute motor-sensory axonal GBS, Acute motor-sensory axonal Guillain-Barré syndrome]","A rare motor-sensory, axonal form of Guillain-Barré syndrome (GBS).",,,,,,,,, +GARD:19602,Active,Orphanet,ORPHA:98918,Disorder,[Disease],Acute motor axonal neuropathy,"[AMAN, Acute pure motor GBS, Acute pure motor Guillain-Barré syndrome]",A rare pure motor axonal form of Guillain-Barré syndrome (GBS).,,,,,,,,, +GARD:19603,Active,Orphanet,ORPHA:98922,Disorder,[Morphological anomaly],Blake pouch cyst,,"Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.",,,,,,,,, +GARD:19604,Active,Orphanet,ORPHA:98933,Subtype of disorder,[Clinical subtype],"Multiple system atrophy, parkinsonian type","[MSA, parkinsonian type, MSA-p]","Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).",,,,,,,,, +GARD:19605,Active,Orphanet,ORPHA:98946,Disorder,[Morphological anomaly],Coloboma of eyelid,,"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral, symmetrical or asymmetrical, partial or full thickness defect of the superior or inferior eyelid margin, ranging in size from a small notch to complete absence of the entire lid, typically located on the medial to lateral third of the eyelid, resulting in an unprotected cornea and thus possibly leading to exposure keratopathy and vision impairment. It may occur isolated, be associated with other ocular defects or be part of a craniofacial syndrome, such as Treacher-Collins or Goldenhar syndrome.",,,,,,,,, +GARD:19606,Active,Orphanet,ORPHA:98948,Subtype of disorder,[Clinical subtype],Congenital symblepharon,,,,,,,,,,, +GARD:19607,Active,Orphanet,ORPHA:98950,Subtype of disorder,[Clinical subtype],Partial cryptophthalmia,,,,,,,,,,, +GARD:19608,Active,Orphanet,ORPHA:98951,Subtype of disorder,[Clinical subtype],Inverse Marcus-Gunn phenomenon,,Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.,,,,,,,,, +GARD:19609,Active,Orphanet,ORPHA:98958,Disorder,[Disease],Climatic droplet keratopathy,[Honey-droplet corneal dystrophy],"A rare superficial corneal dystrophy characterized by progressive opacity of the most anterior corneal layers. Slit-lamp examination reveals typical confluent translucent subepithelial deposits, extending in size and growing into clusters of golden droplets covering the cornea with disease progression. Patients present variably compromised visual acuity, depending on the stage of the disease. In advanced stages, decreased corneal sensation may lead to corneal trophic changes, perforation, and permanent visual loss.",,,,,,,,, +GARD:19610,Active,Orphanet,ORPHA:98975,Disorder,[Disease],Congenital hereditary endothelial dystrophy type I,"[Autosomal dominant CHED, Autosomal dominant congenital hereditary endothelial dystrophy, CHED1, CHEDI, Congenital hereditary endothelial dystrophy type 1]","A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.",,,,,,,,, +GARD:19611,Active,Orphanet,ORPHA:98981,Subtype of disorder,[Clinical subtype],Essential iris atrophy,,"A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.",,,,,,,,, +GARD:19612,Active,Orphanet,ORPHA:99003,Disorder,[Disease],Multifocal pattern dystrophy simulating fundus flavimaculatus,[Multifocal pattern dystrophy simulating Stargardt disease],"A rare, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.",,,,,,,,, +GARD:19613,Active,Orphanet,ORPHA:99004,Disorder,[Disease],Fundus pulverulentus,,"Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.",,,,,,,,, +GARD:19614,Active,Orphanet,ORPHA:99042,Subtype of disorder,[Clinical subtype],Congenitally uncorrected transposition of the great arteries with coarctation,"[Congenitally uncorrected transposition of the great vessels with coarctation, TGA with coarctation]",,,,,,,,,, +GARD:19615,Active,Orphanet,ORPHA:99043,Subtype of disorder,[Clinical subtype],Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis,"[DORV with subaortic or doubly committed VSD with pulmonary stenosis, DORV, Fallot type, Double outlet right ventricle, Fallot type]",,,,,,,,,, +GARD:19616,Active,Orphanet,ORPHA:99045,Subtype of disorder,[Clinical subtype],Double outlet right ventricle with subpulmonary ventricular septal defect,"[DORV with subpulmonary VSD, DORV-TGA, Double outlet right ventricle with transposition of the great arteries, Taussig-Bing syndrome]",,,,,,,,,, +GARD:19617,Active,Orphanet,ORPHA:99046,Subtype of disorder,[Clinical subtype],Double outlet right ventricle with non-committed subpulmonary ventricular septal defect,[DORV with non-committed subpulmonary VSD],,,,,,,,,, +GARD:19618,Active,Orphanet,ORPHA:99048,Disorder,[Malformation syndrome],Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome,"[APV/PDA, non-Fallot type]","A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve, and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate), may be present.",,,,,,,,, +GARD:19619,Active,Orphanet,ORPHA:99049,Disorder,[Morphological anomaly],Pulmonary artery coming from patent ductus arteriosus,,"Pulmonary artery coming from patent ductus arteriosus is a rare, congenital, non-syndromic heart malformation characterized by the presence of a single (or a double) patent ductus arteriosus which associates one or both pulmonary arteries originating from it. Manifestations are variable, frequently presenting with neonatal cyanosis, severe progressive hypoxia, persistent pulmonary hypertension, increased susceptibility to pulmonary infections, and thoracic asymmetry resulting from asymmetric lung volumes.",,,,,,,,, +GARD:19620,Active,Orphanet,ORPHA:99052,Subtype of disorder,[Clinical subtype],Discrete fibromuscular subaortic stenosis,,,,,,,,,,, +GARD:19621,Active,Orphanet,ORPHA:99053,Subtype of disorder,[Clinical subtype],Tunnel subaortic stenosis,,,,,,,,,,, +GARD:19622,Active,Orphanet,ORPHA:99054,Subtype of disorder,[Clinical subtype],Valvular pulmonary stenosis,,,,,,,,,,, +GARD:19623,Active,Orphanet,ORPHA:99055,Disorder,[Morphological anomaly],Congenital anomaly of the tricuspid valve chordae,"[Congenital anomaly of tricuspid chordae tendineae, Congenital anomaly of tricuspid tendinous chords]","A rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.",,,,,,,,, +GARD:19624,Active,Orphanet,ORPHA:99056,Disorder,[Morphological anomaly],Parachute tricuspid valve,,"Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.",,,,,,,,, +GARD:19625,Active,Orphanet,ORPHA:99058,Disorder,[Morphological anomaly],Hypoplasia of the mitral valve annulus,,"A rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.",,,,,,,,, +GARD:19626,Active,Orphanet,ORPHA:99059,Disorder,[Morphological anomaly],Congenital supravalvular mitral ring,,"Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.",,,,,,,,, +GARD:19627,Active,Orphanet,ORPHA:99060,Disorder,[Morphological anomaly],Congenital unguarded mitral orifice,,"Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.",,,,,,,,, +GARD:19628,Active,Orphanet,ORPHA:99061,Disorder,[Morphological anomaly],Accessory mitral valve tissue,,"A congenital non-syndromic heart malformation characratized by an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.",,,,,,,,, +GARD:19629,Active,Orphanet,ORPHA:99062,Disorder,[Morphological anomaly],Mitral valve agenesis,,"Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.",,,,,,,,, +GARD:19630,Active,Orphanet,ORPHA:99063,Disorder,[Malformation syndrome],Shone complex,,"Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated.",,,,,,,,, +GARD:19631,Active,Orphanet,ORPHA:99064,Subtype of disorder,[Clinical subtype],Straddling and/or overriding mitral valve,,"A rare, congenital, non-syndromic heart malformation characterized by an abnormal attachment of the mitral chordae to both ventricles. Straddling mitral valve is usually associated with conotruncal anomalies, most commonly double outlet right ventricle or transposition of the great arteries. Overriding mitral valve is characterized by a mitral annulus committed to the two ventricular chambers, where the mitral valve is shared between the ventricles. Straddling and overriding mitral valve can occur together or in isolation.",,,,,,,,, +GARD:19632,Active,Orphanet,ORPHA:99070,Subtype of disorder,[Clinical subtype],Aorto-right ventricular tunnel,,,,,,,,,,, +GARD:19633,Active,Orphanet,ORPHA:99071,Subtype of disorder,[Clinical subtype],Aorto-left ventricular tunnel,,,,,,,,,,, +GARD:19634,Active,Orphanet,ORPHA:99072,Disorder,[Morphological anomaly],Congenital patent ductus arteriosus aneurysm,,"A rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.",,,,,,,,, +GARD:19635,Active,Orphanet,ORPHA:99075,Disorder,[Morphological anomaly],Encircling double aortic arch,,"Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.",,,,,,,,, +GARD:19636,Active,Orphanet,ORPHA:99076,Disorder,[Morphological anomaly],Persistent fifth aortic arch,,"A rare, congenital anomaly of the great arteries characterized by an extrapericardial vessel arising from the ascending aorta proximal to the brachiocephalic artery and terminating either in the dorsal aorta or in pulmonary arteries via a persistently patent arterial duct. The resulting connection is a systemic-to-systemic or systemic-to-pulmonary. Clinical manifestation include exercise intolerance, reduced femoral pulses, cyanosis with or without pulmonary hypertension and heart failure. Other congenital cardiovascular anomalies are often present and influence the clinical presentation.",,,,,,,,, +GARD:19637,Active,Orphanet,ORPHA:99077,Disorder,[Morphological anomaly],Kommerell diverticulum,,"Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.",,,,,,,,, +GARD:19638,Active,Orphanet,ORPHA:99078,Disorder,[Morphological anomaly],Neuhauser anomaly,,"Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).",,,,,,,,, +GARD:19639,Active,Orphanet,ORPHA:99079,Disorder,[Morphological anomaly],Cervical aortic arch,,"A rare, congenital anomaly of the great arteries characterized by cranially situated aortic arch ascending into the neck above the clavicles. Most patients remain asymptomatic, some present with a murmur and a pulsatile neck mass, stridor, dyspnea, recurrent bronchitis, dysphagia or signs and symptoms of a stenosis/aneurism of the aortic arch. Other congenital heart anomalies are frequently associated, including abnormalities of arch laterality and branching, aortic coarctation or aneurysm.",,,,,,,,, +GARD:19640,Active,Orphanet,ORPHA:99081,Disorder,[Morphological anomaly],Right aortic arch,,,,,,,,,,, +GARD:19641,Active,Orphanet,ORPHA:99082,Disorder,[Morphological anomaly],Dysphagia lusoria,,"A rare aortic arch defect characterized by variable degrees of dysphagia due to compression of the esophagus from an aberrant right subclavian artery (arteria lusoria), which arises as the fourth branch, distal to the left subclavian artery, from the aortic arch. In most cases, the aberrant vessel then passes posterior to the esophagus, less frequently between the trachea and esophagus, or anterior to the trachea. Children may also present with stridor and recurrent chest infections.",,,,,,,,, +GARD:19642,Active,Orphanet,ORPHA:99083,Disorder,[Morphological anomaly],Pulmonary artery hypoplasia,"[PAH, Unilateral Pulmonary Artery Hypoplasia]","A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, shortness of breath, including recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia.",,,,,,,,, +GARD:19643,Active,Orphanet,ORPHA:99087,Disorder,[Morphological anomaly],Coronary ostial stenosis or atresia,"[COSA, Congenital coronary arterial orifice stenosis or atresia, Congenital stenosis or atresia of a coronary ostium]","A rare coronary artery congenital malformation characterized by congenital, partial or total occlusion of the left or right coronary artery orifice, associated with hypoplasia of the proximal segment of the corresponding coronary artery. It may present with failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, myocardial ischemia and/or sudden death.",,,,,,,,, +GARD:19644,Active,Orphanet,ORPHA:99089,Disorder,[Morphological anomaly],Abnormal number of coronary ostia,,"A rare, congenital, non-syndromic heart malformation characterized by more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography.",,,,,,,,, +GARD:19645,Active,Orphanet,ORPHA:99090,Disorder,[Morphological anomaly],Malposition of a coronary ostium,,"A rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.",,,,,,,,, +GARD:19646,Active,Orphanet,ORPHA:99094,Disorder,[Morphological anomaly],Laubry-Pezzi syndrome,"[VSD with aortic insufficiency, Ventricular septal defect with aortic insufficiency]","Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.",,,,,,,,, +GARD:19647,Active,Orphanet,ORPHA:99095,Disorder,[Morphological anomaly],Congenital Gerbode defect,[Left ventricular-to-right atrial communication],"A rare, congenital non-syndromic heart malformation characterized by an abnormal shunting between the left ventricle and right atrium. The clinical manifestation varies, depending on the volume of the shunt. Small congenital shunts are usually asymptomatic or associated with dyspnea and fever, whereas larger shunts often present with chest pain, fatigue, weakness, lower extremity edema, and sometimes heart failure and death. Other congenital heart anomalies may be associated.",,,,,,,,, +GARD:19648,Active,Orphanet,ORPHA:99100,Disorder,[Morphological anomaly],Juxtaposition of the atrial appendages,[Juxtaposition of the atrial auricles],"Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.",,,,,,,,, +GARD:19649,Active,Orphanet,ORPHA:99101,Disorder,[Morphological anomaly],Ectasia of the right atrial appendage,"[Dilatation of the right atrial appendage, Dilatation of the right atrial auricle, Ectasia of the right atrial auricle]","Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.",,,,,,,,, +GARD:19650,Active,Orphanet,ORPHA:99102,Disorder,[Morphological anomaly],Ectasia of the left atrial appendage,"[Dilatation of the left atrial appendage, Dilatation of the left auricle, Ectasia of the left auricle]","Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.",,,,,,,,, +GARD:19651,Active,Orphanet,ORPHA:99107,Disorder,[Morphological anomaly],Atrial septal aneurysm,,"A rare congenital non-syndromic heart malformation characterized by an abnormal protrusion of the interatrial septum into the right or left atrium, or both, during the cardiorespiratory cycle. The defect may be limited to the fossa ovalis or involve the entire septum. It can present as an isolated finding but is more often associated with interatrial shunts, in particular patent foramen ovale. Clinically it increases the risk of peripheral arterial embolism and stroke.",,,,,,,,, +GARD:19652,Active,Orphanet,ORPHA:99109,Disorder,[Morphological anomaly],Persistent left superior vena cava connecting through coronary sinus to left-sided atrium,[Persistent left SVC connecting through coronary sinus to left-sided atrium],"A rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.",,,,,,,,, +GARD:19653,Active,Orphanet,ORPHA:99110,Disorder,[Morphological anomaly],Right superior vena cava connecting to left-sided atrium,"[Right SVC connecting to left-sided atrium, Right superior caval vein connecting to left-sided atrium]","A rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.",,,,,,,,, +GARD:19654,Active,Orphanet,ORPHA:99111,Disorder,[Morphological anomaly],Persistent left superior vena cava connecting to the roof of left-sided atrium,"[Persistent left SVC connecting to left-sided atrium, Persistent left SVC connecting to the roof of left-sided atrium, Persistent left superior vena cava connecting to left-sided atrium]","A rare congenital anomaly of superior vena cava characterized by a persistent left superior vena cava that drains into the left atrium through a direct connection to its roof, creating a right-to-left shunt. Patients are at risk of developing chronic hypoxia, decreased exercise tolerance, cyanosis, embolic cerebrovascular events, and heart failure.",,,,,,,,, +GARD:19655,Active,Orphanet,ORPHA:99112,Disorder,[Morphological anomaly],Absence of innominate vein,[Absence of brachiocephalic vein],"A rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.",,,,,,,,, +GARD:19656,Active,Orphanet,ORPHA:99113,Disorder,[Morphological anomaly],Subaortic course of innominate vein,[Subaortic course of brachiocephalic vein],"Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.",,,,,,,,, +GARD:19657,Active,Orphanet,ORPHA:99114,Disorder,[Morphological anomaly],Agenesis of the superior vena cava,"[Absence of the SVC, Absence of the superior caval vein, Absence of the superior vena cava, Agenesis of the SVC, Agenesis of the superior caval vein]","A rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the superior vena cava (SVC). Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.",,,,,,,,, +GARD:19658,Active,Orphanet,ORPHA:99117,Disorder,[Morphological anomaly],Coronary sinus stenosis,,"A rare congenital anomaly of the coronary sinus characterized by its stenosis at the ostium, lumen, or origin, typically leading to dilation of the vessel. Symptoms are variable and can include palpitations, tachypnea, dyspnea, chest pain, fatigue, and cyanosis. The malformation may be associated with other cardiac anomalies, such as coronary artery-coronary sinus fistula, unroofed coronary sinus, atrial septal defect, coronary sinus-left atrium fistula, total anomalous pulmonary venous connection, and ventricular septal defect.",,,,,,,,, +GARD:19659,Active,Orphanet,ORPHA:99118,Disorder,[Morphological anomaly],Coronary sinus atresia,,,,,,,,,,, +GARD:19660,Active,Orphanet,ORPHA:99119,Disorder,[Morphological anomaly],Right inferior vena cava connecting to left-sided atrium,"[Right IVC connecting to left-sided atrium, Right inferior caval vein connecting to left-sided atrium]","A rare vascular anomaly characterized by a congenital anomalous connection between the inferior vena cava and the left atrium. Clinical manifestations depend on the presence and nature of additional cardiac defects and include cyanosis, dyspnea, failure to thrive, clubbing of fingers and toes, and potentially heart failure.",,,,,,,,, +GARD:19661,Active,Orphanet,ORPHA:99120,Disorder,[Morphological anomaly],Persistent eustachian valve,,"Persistent eustachian valve is a rare congenital anomaly of the inferior vena cava characterized by the postnatal presence of an eustachian valve remnant, which may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, infective endocarditis, and when combined with persistent foramen ovale, it may generate permanent right-to-left shunt.",,,,,,,,, +GARD:19662,Active,Orphanet,ORPHA:99121,Disorder,[Morphological anomaly],Azygos continuation of the inferior vena cava,"[Azygos continuation of the IVC, Azygos continuation of the inferior caval vein, Inferior vena cava interruption with azygos continuation]","A rare vascular anomaly characterized by absence of the hepatic segment of the inferior vena cava and presence of an enlarged azygos vein (or in rare cases hemiazygos vein, if there is a left-sided inferior vena cava) draining the venous blood from the caudal segments. The post-hepatic segment of the inferior vena cava is present, draining only the hepatic veins into the right atrium. Most patients remain asymptomatic, if the anomaly is isolated. Association with congenital heart disease and asplenia or polysplenia syndromes has been reported.",,,,,,,,, +GARD:19663,Active,Orphanet,ORPHA:99122,Disorder,[Morphological anomaly],Congenital stenosis of the inferior vena cava,"[Congenital stenosis of the IVC, Congenital stenosis of the inferior caval vein]","A rare vascular anomaly characterized by congenital narrowing of the inferior vena cava mostly at the diaphragmatic level or hepatic segment, with or without web formation. Patients may present with deep vein thrombosis below the obstructed segment as well as swelling, pain, and varices of the lower extremities, abdominal pain/varices, or hematochezia. Presence of collateral veins between upper and lower segments of the stenosis, as well as venous aneurysms are typical associated findings.",,,,,,,,, +GARD:19664,Active,Orphanet,ORPHA:99123,Disorder,[Morphological anomaly],Inferior vena cava interruption without azygos continuation,"[IVC interruption, Inferior caval vein interruption]","A rare congenital anomaly of the inferior vena cava characterized by complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices, and hematochezia, among others. Additional venous abnormalities or cardiac malformations are frequently present.",,,,,,,,, +GARD:19665,Active,Orphanet,ORPHA:99124,Disorder,[Morphological anomaly],Congenital partial pulmonary venous return anomaly,,"A form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.",,,,,,,,, +GARD:19666,Active,Orphanet,ORPHA:99129,Disorder,[Morphological anomaly],Congenital complete agenesis of pericardium,,"Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.",,,,,,,,, +GARD:19667,Active,Orphanet,ORPHA:99130,Disorder,[Morphological anomaly],Congenital partial agenesis of pericardium,,"Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.",,,,,,,,, +GARD:19668,Active,Orphanet,ORPHA:99131,Disorder,[Morphological anomaly],Pleuro-pericardial cyst,,"Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.",,,,,,,,, +GARD:19669,Active,Orphanet,ORPHA:99138,Disorder,[Disease],Hemolytic anemia due to erythrocyte adenosine deaminase overproduction,,"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.",,,,,,,,, +GARD:19670,Active,Orphanet,ORPHA:99139,Disorder,[Disease],Unstable hemoglobin disease,,"A rare hemoglobinopathy characterized by variable degrees of hemolytic anemia, depending on the nature of the hemoglobin variant. In symptomatic patients, clinical manifestations are jaundice, splenomegaly, and, in patients with severe anemia, pallor. Additional features include reticulocytosis, presence of Heinz bodies, and pigmenturia.",,,,,,,,, +GARD:19671,Active,Orphanet,ORPHA:99169,Disorder,[Morphological anomaly],Epiblepharon,,"A rare eyelid malposition disorder characterized by a horizontal fold consisting of redundant skin and underlying pretarsal orbicularis muscle overriding the eyelid margin and causing inward rotation of the eyelashes with potential irritation of the ocular surface. Patients may be asymptomatic or experience foreign body sensation, constant watering, itching, and redness of the eyes. Complications include repeated infections and corneal erosion. The condition is usually bilateral and more commonly affects the lower eyelids.",,,,,,,,, +GARD:19672,Active,Orphanet,ORPHA:99170,Disorder,[Morphological anomaly],Tarsal kink syndrome,,Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.,,,,,,,,, +GARD:19673,Active,Orphanet,ORPHA:99171,Disorder,[Morphological anomaly],Isolated congenital ectropion,,"Isolated congenital ectropion is a rare ocular disease characterized by congenital, unilateral or bilateral, lower or upper eyelid malposition with eversion of the margin due to a vertical shortage of skin, leading to exposure of the conjunctiva and sometimes the cornea. Chronic epiphora and exposure keratitis may be observed in severe cases.",,,,,,,,, +GARD:19674,Active,Orphanet,ORPHA:99172,Disorder,[Morphological anomaly],Euryblepharon,,"Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus; see this term) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome, see this term). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.",,,,,,,,, +GARD:19675,Active,Orphanet,ORPHA:99176,Disorder,[Morphological anomaly],Congenital eyelid retraction,,"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.",,,,,,,,, +GARD:19676,Active,Orphanet,ORPHA:99226,Subtype of disorder,[Etiological subtype],Monosomy X,,,,,,,,,,, +GARD:19677,Active,Orphanet,ORPHA:99228,Subtype of disorder,[Etiological subtype],Mosaic monosomy X,,,,,,,,,,, +GARD:19678,Active,Orphanet,ORPHA:99324,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 13,[UPD(13)pat],Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.,,,,,,,,, +GARD:19679,Active,Orphanet,ORPHA:99330,Disorder,[Malformation syndrome],"49,XYYYY syndrome",,"A rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.",,,,,,,,, +GARD:19680,Active,Orphanet,ORPHA:99408,Group of disorders,[Clinical group],Pituitary adenoma,,,,,,,,,,, +GARD:19681,Active,Orphanet,ORPHA:99413,Subtype of disorder,[Etiological subtype],Turner syndrome due to structural X chromosome anomalies,,,,,,,,,,, +GARD:19682,Active,Orphanet,ORPHA:99647,Disorder,[Disease],Cheirospondyloenchondromatosis,[Generalized enchondromatosis with platyspondyly],"Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.",,,,,,,,, +GARD:19683,Active,Orphanet,ORPHA:99688,Disorder,[Malformation syndrome],Dermotrichic syndrome,,"Dermotrichic syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.",,,,,,,,, +GARD:19684,Active,Orphanet,ORPHA:99701,Disorder,[Disease],Mesial temporal lobe epilepsy with hippocampal sclerosis,"[HS-MTLE, Hippocampal sclerosis-related mesial temporal lobe epilepsy, MTLE-HS]","Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.",,,,,,,,, +GARD:19685,Active,Orphanet,ORPHA:99704,Disorder,[Disease],Early-onset obesity-hyperphagia-severe developmental delay syndrome,[OBHD],,,,,,,,,, +GARD:19686,Active,Orphanet,ORPHA:99739,Group of disorders,[Category],Rare familial disorder with hypertrophic cardiomyopathy,"[Rare familial disorder with hypertrophic obstructive cardiomyopathy, Rare familial disorder with hypertrophic subaortic stenosis]",,,,,,,,,, +GARD:19687,Active,Orphanet,ORPHA:99771,Disorder,[Morphological anomaly],Bifid uvula,"[Bifidity of the uvula, Uvular cleft]",Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.,,,,,,,,, +GARD:19688,Active,Orphanet,ORPHA:99824,Disorder,[Disease],Lassa fever,"[LF, Lassa hemorrhagic fever]","Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure.",,,,,,,,, +GARD:19689,Active,Orphanet,ORPHA:99825,Disorder,[Disease],Nipah virus disease,"[Nipah encephalitis, Nipah fever]","Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.",,,,,,,,, +GARD:19690,Active,Orphanet,ORPHA:99827,Disorder,[Disease],Crimean-Congo hemorrhagic fever,"[CCHF, Congo fever, Congo hemorrhagic fever, Crimean hemorrhagic fever]","Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.",,,,,,,,, +GARD:19691,Active,Orphanet,ORPHA:99856,Disorder,[Morphological anomaly],Primary syringomyelia,[Congenital syringomyelia],"A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities.",,,,,,,,, +GARD:19692,Active,Orphanet,ORPHA:99857,Disorder,[Disease],Secondary syringomyelia,,"Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.",,,,,,,,, +GARD:19693,Active,Orphanet,ORPHA:99858,Subtype of disorder,[Clinical subtype],Idiopathic syringomyelia,,"Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.",,,,,,,,, +GARD:19694,Active,Orphanet,ORPHA:99861,Disorder,[Disease],Precursor T-cell acute lymphoblastic leukemia,"[Precursor T-cell acute lymphoblastic leukemia/lymphoma, Precursor T-cell acute lymphocytic leukemia, Precursor T-cell acute lymphocytic leukemia/lymphoma, T-ALL]","A rare acute lymphoblastic leukemia characterized by a neoplasm of lymphoblasts committed to the T-cell lineage, involving bone marrow and blood. A value of >25% bone marrow blasts may be used to define leukemia (as opposed to lymphoma) in cases with the presence of a mass lesion in addition to bone marrow involvement. Patients typically present with leukocytosis, and frequently with a large mediastinal or other tissue mass. Lymphadenopathy and hepatosplenomegaly are common.",,,,,,,,, +GARD:19695,Active,Orphanet,ORPHA:99868,Disorder,[Disease],Thymic carcinoma,[Malignant thymoma],Thymic carcinoma (TC) is a type of thymic epithelial neoplasm (see this term) characterized by a high malignant potential.,,,,,,,,, +GARD:19696,Active,Orphanet,ORPHA:99869,Disorder,[Disease],Thymic neuroendocrine carcinoma,,Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm (see this term) displaying evidence of neuroendocrine differentiation.,,,,,,,,, +GARD:19697,Active,Orphanet,ORPHA:99887,Subtype of disorder,[Clinical subtype],Acute megakaryoblastic leukemia in Down syndrome,[DS-AMKL],,,,,,,,,, +GARD:19698,Active,Orphanet,ORPHA:99889,Disorder,[Disease],Cushing syndrome due to ectopic ACTH secretion,"[Adrenocorticotropic hormone secretion syndrome, Ectopic ACTH secreting tumor, Ectopic Cushing syndrome, Occult ectopic ACTH secretion, Paraneoplastic Cushing syndrome]","Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome (see this term) caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.",,,,,,,,, +GARD:19699,Active,Orphanet,ORPHA:99892,Group of disorders,[Clinical group],ACTH-dependent Cushing syndrome,"[ACTH-dependent CS, Adrenocorticotropic hormone-dependent Cushing syndrome, Corticotropin-dependent Cushing syndrome]","A form of endogenous Cushing syndrome (CS) caused by abnormal production of ACTH due, in 80% of cases, to adrenocorticotropic hormone (ACTH) oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).",,,,,,,,, +GARD:19700,Active,Orphanet,ORPHA:99893,Group of disorders,[Clinical group],ACTH-independent Cushing syndrome,"[Adrenal Cushing syndrome, Adrenocorticotropic hormone-independent Cushing syndrome, Corticotropin-independent Cushing syndrome]","A form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).",,,,,,,,, +GARD:19701,Active,Orphanet,ORPHA:99903,Subtype of disorder,[Etiological subtype],Spirillary rat-bite fever,[Sodoku],"Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the Gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.",,,,,,,,, +GARD:19702,Active,Orphanet,ORPHA:99905,Subtype of disorder,[Etiological subtype],Streptobacillary rat-bite fever,,Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic Gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.,,,,,,,,, +GARD:19703,Active,Orphanet,ORPHA:99907,Disorder,[Disease],House allergic alveolitis,,"House allergic alveolitis is a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis (see this term).",,,,,,,,, +GARD:19704,Active,Orphanet,ORPHA:99909,Group of disorders,[Clinical group],Occupational allergic alveolitis,,"Occupational allergic alveolitis designates a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise",,,,,,,,, +GARD:19705,Active,Orphanet,ORPHA:99912,Disorder,[Disease],Malignant dysgerminomatous germ cell tumor of the ovary,"[Dysgerminomatous germ cell cancer of the ovary, Malignant ovarian dysgerminoma]","A form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts).",,,,,,,,, +GARD:19706,Active,Orphanet,ORPHA:99913,Group of disorders,[Category],Extragonadal non-dysgerminomatous germ cell tumor,,,,,,,,,,, +GARD:19707,Active,Orphanet,ORPHA:99915,Disorder,[Disease],Maligant granulosa cell tumor of the ovary,"[Granulosa cell cancer, Granulosa cell malignant tumor]","A rare malignant sex cord stromal tumor of ovary arising from the granulosa cells of the ovary, which occurs in peri and post menopausal women, and that presents with abnormal vaginal bleeding, abdominal pain and distension. The tumor is frequently unilateral, estrogen secreting, and has a slow natural history and a tendency to relapse long after the initial diagnosis.",,,,,,,,, +GARD:19708,Active,Orphanet,ORPHA:99917,Disorder,[Disease],"Theca steroid-producing cell malignant tumor of ovary, not further specified","[Theca (steroid-producing) cell cancer, not further specified]","A rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.",,,,,,,,, +GARD:19709,Active,Orphanet,ORPHA:99918,Subtype of disorder,[Etiological subtype],Streptococcal toxic-shock syndrome,[Streptococcal TSS],"Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.",,,,,,,,, +GARD:19710,Active,Orphanet,ORPHA:99919,Subtype of disorder,[Etiological subtype],Staphylococcal toxic-shock syndrome,[Staphylococcal TSS],"Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.",,,,,,,,, +GARD:19711,Active,Orphanet,ORPHA:99925,Disorder,[Disease],Invasive mole,,"A form of gestational trophoblastic neoplasia similar to a hydatidiform mole but with deep invasion into the myometriumand histologically characterized hyperplasia of trophoblasts, generalized cystic degeneration of chorionic villi and the presence of molar villi in the myometrium and/ or uterine blood vessels. Indicative signs include persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after evacuation of a hydatidiform mole. Metastases (in the lungs or vagina) may be observed.",,,,,,,,, +GARD:19712,Active,Orphanet,ORPHA:99926,Disorder,[Disease],Gestational choriocarcinoma,,"A form of gestational trophoblastic neoplasia characterized histologically by trophoblast proliferation, absence of chorionic villi (except in cases of intraplacental choriocarcinoma) and tissue necrosis with bleeding. The tumor occurs secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. Indicative signs are persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after removal of a hydatidiform mole; persistent unexplained metrorrhagia following spontaneous abortion or VTP; occasionally unexplained metrorrhagia in the weeks or months following normal childbirth or an ectopic pregnancy. Occasionally, metastases (lung, liver, brain, kidneys, vagina) are indicative signs in women of childbearing age.",,,,,,,,, +GARD:19713,Active,Orphanet,ORPHA:99930,Disorder,[Disease],Secondary pulmonary hemosiderosis,,"Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome (see this term), autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography",,,,,,,,, +GARD:19714,Active,Orphanet,ORPHA:99932,Subtype of disorder,[Clinical subtype],Heiner syndrome,[Cow's milk hypersensitivity],"Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis (see this term), digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.",,,,,,,,, +GARD:19715,Active,Orphanet,ORPHA:99933,Subtype of disorder,[Clinical subtype],Pleuropulmonary blastoma type 1,,,,,,,,,,, +GARD:19716,Active,Orphanet,ORPHA:99934,Subtype of disorder,[Clinical subtype],Pleuropulmonary blastoma type 2,,,,,,,,,,, +GARD:19717,Active,Orphanet,ORPHA:99935,Subtype of disorder,[Clinical subtype],Pleuropulmonary blastoma type 3,,,,,,,,,,, +GARD:19718,Active,Orphanet,ORPHA:99965,Disorder,[Disease],O'Sullivan-McLeod syndrome,,A rare acquired motor neuron disease characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.,,,,,,,,, +GARD:19719,Active,Orphanet,ORPHA:99969,Subtype of disorder,[Histopathological subtype],Pleomorphic liposarcoma,[PLS],"Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS; see this term), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma (see these terms).",,,,,,,,, +GARD:19720,Active,Orphanet,ORPHA:99970,Subtype of disorder,[Histopathological subtype],Dedifferentiated liposarcoma,[DDLS],"Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS; see this term) that progresses from well-differentiated liposarcoma (WDLS; see this term), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. .",,,,,,,,, +GARD:19721,Active,Orphanet,ORPHA:99971,Subtype of disorder,[Histopathological subtype],Well-differentiated liposarcoma,"[ALT, Atypical lipoma, Atypical lipomatous tumor, WDLS]","Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes.",,,,,,,,, +GARD:19722,Active,Orphanet,ORPHA:99981,Disorder,[Disease],Apnea of prematurity,,"A developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.",,,,,,,,, +GARD:19723,Active,Orphanet,ORPHA:99983,Group of disorders,[Category],Cutaneous myiasis,,,,,,,,,,, +GARD:19724,Active,Orphanet,ORPHA:99989,Disorder,[Disease],Intermediate DEND syndrome,"[Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form]","A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and is characterized clinically by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy.",,,,,,,,, +GARD:19725,Active,Orphanet,ORPHA:99990,Subtype of disorder,[Clinical subtype],Brill-Zinsser disease,"[Brill disease, Recrudescent typhus]",,,,,,,,,, +GARD:19726,Active,Orphanet,ORPHA:99991,Subtype of disorder,[Clinical subtype],Relapsing epidemic typhus,,,,,,,,,,, +GARD:19727,Active,Orphanet,ORPHA:99994,Subtype of disorder,[Clinical subtype],Complex regional pain syndrome type 2,[Causalgia],"Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia , not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.",,,,,,,,, +GARD:19728,Active,Orphanet,ORPHA:100000,Subtype of disorder,[Clinical subtype],Reticular perineurioma,,,,,,,,,,, +GARD:19729,Active,Orphanet,ORPHA:100001,Subtype of disorder,[Clinical subtype],Sclerosing perineurioma,,,,,,,,,,, +GARD:19730,Active,Orphanet,ORPHA:100002,Disorder,[Disease],Extraneural perineurioma,[Soft tissue perineurioma],"Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.",,,,,,,,, +GARD:19731,Active,Orphanet,ORPHA:100011,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type A,,"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.",,,,,,,,, +GARD:19732,Active,Orphanet,ORPHA:100012,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type B,,"A form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.",,,,,,,,, +GARD:19733,Active,Orphanet,ORPHA:100013,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type C,,"A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.",,,,,,,,, +GARD:19734,Active,Orphanet,ORPHA:100014,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type D,,"A form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (≤ -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.",,,,,,,,, +GARD:19735,Active,Orphanet,ORPHA:100015,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type E,,"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.",,,,,,,,, +GARD:19736,Active,Orphanet,ORPHA:100016,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type F,,"A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.",,,,,,,,, +GARD:19737,Active,Orphanet,ORPHA:100019,Subtype of disorder,[Clinical subtype],Refractory anemia with excess blasts type 1,[RAEB-1],"A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.",,,,,,,,, +GARD:19738,Active,Orphanet,ORPHA:100020,Subtype of disorder,[Clinical subtype],Refractory anemia with excess blasts type 2,[RAEB-2],"A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.",,,,,,,,, +GARD:19739,Active,Orphanet,ORPHA:100021,Subtype of disorder,[Clinical subtype],Primary plasmacytoma of the bone,,,,,,,,,,, +GARD:19740,Active,Orphanet,ORPHA:100022,Subtype of disorder,[Clinical subtype],Extramedullary soft tissue plasmacytoma,,,,,,,,,,, +GARD:19741,Active,Orphanet,ORPHA:100024,Subtype of disorder,[Clinical subtype],Mu-heavy chain disease,[mu-HCD],A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).,,,,,,,,, +GARD:19742,Active,Orphanet,ORPHA:100025,Subtype of disorder,[Clinical subtype],Alpha-heavy chain disease,"[Alpha-HCD, IPSID, Immunoproliferative small intestinal disease, Mediterranean lymphoma]",A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.,,,,,,,,, +GARD:19743,Active,Orphanet,ORPHA:100035,Disorder,[Disease],Solitary necrotic nodule of the liver,[Hepatic solitary necrotic nodule],"A rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.",,,,,,,,, +GARD:19744,Active,Orphanet,ORPHA:100047,Disorder,[Morphological anomaly],Esophageal duplication cyst,,"A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported.",,,,,,,,, +GARD:19745,Active,Orphanet,ORPHA:100048,Disorder,[Morphological anomaly],Tubular duplication of the esophagus,,"A rare, non-syndromic, congenital esophageal malformation characterized by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood.",,,,,,,,, +GARD:19746,Active,Orphanet,ORPHA:100049,Group of disorders,[Category],Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies,[Primary ILD specific to childhood due to pulmonary surfactant protein anomalies],A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.,,,,,,,,, +GARD:19747,Active,Orphanet,ORPHA:100055,Subtype of disorder,[Clinical subtype],Acquired angioedema type 2,"[AAE 2, AAE II, Acquired angioneurotic edema type 2]","A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",,,,,,,,, +GARD:19748,Active,Orphanet,ORPHA:100056,Subtype of disorder,[Clinical subtype],Acquired angioedema type 1,[Acquired angioneurotic edema type 1],"A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",,,,,,,,, +GARD:19749,Active,Orphanet,ORPHA:100073,Subtype of disorder,[Clinical subtype],Neurogenic thoracic outlet syndrome,"[NTOS, Neurogenic TOS, Neurogenic cervical rib syndrome, Neurogenic costoclavicular syndrome, Neurogenic thoracic outlet compression syndrome]","Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.",,,,,,,,, +GARD:1975,Active,Orphanet,ORPHA:237,Disorder,[Morphological anomaly],Duplication of urethra,,"A rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.",,,,,,Duplication of urethra,TRUE,FALSE,Active +GARD:19750,Active,Orphanet,ORPHA:100075,Disorder,[Disease],Neuroendocrine tumor of stomach,"[GNET, Gastric NET, Gastric neuroendocrine tumor, NET of stomach]","A rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.",,,,,,,,, +GARD:19751,Active,Orphanet,ORPHA:100076,Group of disorders,[Category],Duodenal neuroendocrine tumor,,,,,,,,,,, +GARD:19752,Active,Orphanet,ORPHA:100077,Group of disorders,[Category],Jejunal neuroendocrine tumor,[Jejunal neuroendocrine neoplasm],"Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.",,,,,,,,, +GARD:19753,Active,Orphanet,ORPHA:100078,Disorder,[Disease],Ileal neuroendocrine tumor,[Ileal neuroendocrine neoplasm],"Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.",,,,,,,,, +GARD:19754,Active,Orphanet,ORPHA:100079,Disorder,[Disease],Neuroendocrine neoplasm of appendix,"[Appendiceal NEN, Appendiceal neuroendocrine neoplasm, NEN of appendix]","Endocrine tumor of the appendix is the most common sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC; see these terms).",,,,,,,,, +GARD:19755,Active,Orphanet,ORPHA:100080,Disorder,[Disease],Neuroendocrine tumor of the colon,"[Colonic NET, NET of the colon, Neuroendocrine neoplasm of the colon]","A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).",,,,,,,,, +GARD:19756,Active,Orphanet,ORPHA:100081,Disorder,[Disease],Neuroendocrine tumor of the rectum,"[NET of the rectum, Rectal NET, Rectal neuroendocrine tumor]","Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.",,,,,,,,, +GARD:19757,Active,Orphanet,ORPHA:100082,Disorder,[Disease],Neuroendocrine tumor of anal canal,[NET of anal canal],"A are epithelial tumor of the anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).",,,,,,,,, +GARD:19758,Active,Orphanet,ORPHA:100083,Disorder,[Disease],Laryngeal neuroendocrine tumor,,"A rare head and neck tumor characterized by an epithelial neoplasm with evidence of neuroendocrine differentiation, typically located in the supraglottic larynx. The tumor can be well, moderately, or poorly differentiated, the latter group being subdivided into small cell or large cell neuroendocrine carcinomas. There is a strong association with tobacco use. Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production. Poorly differentiated tumors are highly aggressive with high rates of regional and distant metastasis.",,,,,,,,, +GARD:19759,Active,Orphanet,ORPHA:100084,Disorder,[Disease],Middle ear neuroendocrine tumor,,"Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis.",,,,,,,,, +GARD:1976,Legacy,GARD,,,,,,,,,,,,Duplication of leg mirror foot,TRUE,FALSE,Active +GARD:19760,Active,Orphanet,ORPHA:100085,Disorder,[Disease],Primary hepatic neuroendocrine carcinoma,,"Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.",,,,,,,,, +GARD:19761,Active,Orphanet,ORPHA:100086,Disorder,[Disease],Gallbladder neuroendocrine tumor,,"A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated.",,,,,,,,, +GARD:19762,Active,Orphanet,ORPHA:100087,Group of disorders,[Category],Thyroid tumor,,,,,,,,,,, +GARD:19763,Active,Orphanet,ORPHA:100088,Group of disorders,[Category],Thyroid carcinoma,,,,,,,,,,, +GARD:19764,Active,Orphanet,ORPHA:100090,Group of disorders,[Category],Rare parathyroid tumor,,,,,,,,,,, +GARD:19765,Active,Orphanet,ORPHA:100091,Group of disorders,[Category],Adrenal/paraganglial tumor,,,,,,,,,,, +GARD:19766,Active,Orphanet,ORPHA:100094,Group of disorders,[Category],Multiple polyglandular tumor,,,,,,,,,,, +GARD:19767,Active,Orphanet,ORPHA:100100,Group of disorders,[Category],Thymic tumor,,,,,,,,,,, +GARD:19768,Active,Orphanet,ORPHA:100101,Group of disorders,[Category],Neuroendocrine tumor with other location,,,,,,,,,,, +GARD:19769,Active,Orphanet,ORPHA:100974,Disorder,[Disease],FRAXF syndrome,,"FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.",,,,,,,,, +GARD:1977,Legacy,GARD,,,,,,,,,,,,Duplication of the thumb unilateral biphalangeal,TRUE,FALSE,Active +GARD:19770,Active,Orphanet,ORPHA:100979,Group of disorders,[Clinical group],Autosomal dominant complex spastic paraplegia,"[Autosomal dominant complex HSP, Autosomal dominant complex SPG, Autosomal dominant complicated HSP, Autosomal dominant complicated SPG, Autosomal dominant complicated spastic paraplegia]",,,,,,,,,, +GARD:19771,Active,Orphanet,ORPHA:100980,Group of disorders,[Clinical group],Autosomal dominant pure spastic paraplegia,"[Autosomal dominant pure HSP, Autosomal dominant pure SPG, Autosomal dominant uncomplicated HSP, Autosomal dominant uncomplicated SPG, Autosomal dominant uncomplicated spastic paraplegia]",,,,,,,,,, +GARD:19772,Active,Orphanet,ORPHA:100981,Group of disorders,[Clinical group],Autosomal recessive complex spastic paraplegia,"[Autosomal recessive complex HSP, Autosomal recessive complex SPG, Autosomal recessive complicated HSP, Autosomal recessive complicated SPG, Autosomal recessive complicated spastic paraplegia]",,,,,,,,,, +GARD:19773,Active,Orphanet,ORPHA:100982,Group of disorders,[Clinical group],Autosomal recessive pure spastic paraplegia,"[Autosomal recessive pure HSP, Autosomal recessive pure SPG, Autosomal recessive uncomplicated HSP, Autosomal recessive uncomplicated SPG, Autosomal recessive uncomplicated spastic paraplegia]",,,,,,,,,, +GARD:19774,Active,Orphanet,ORPHA:101023,Disorder,[Morphological anomaly],Cleft hard palate,,,,,,,,,,, +GARD:19775,Active,Orphanet,ORPHA:101029,Subtype of disorder,[Clinical subtype],Sub-cortical nodular heterotopia,,,,,,,,,,, +GARD:19776,Active,Orphanet,ORPHA:101043,Subtype of disorder,[Clinical subtype],Congenital aortic valve dysplasia,,,,,,,,,,, +GARD:19777,Active,Orphanet,ORPHA:101071,Subtype of disorder,[Clinical subtype],Unilateral hemispheric polymicrogyria,,,,,,,,,,, +GARD:19778,Active,Orphanet,ORPHA:101096,Disorder,[Disease],Aregenerative anemia,,,,,,,,,,, +GARD:19779,Active,Orphanet,ORPHA:101104,Subtype of disorder,[Clinical subtype],Marin-Amat syndrome,,,,,,,,,,, +GARD:19780,Active,Orphanet,ORPHA:101206,Disorder,[Malformation syndrome],Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome,"[APV/ADA, Fallot type, Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome, PVA/ADA, Fallot type]","Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.",,,,,,,,, +GARD:19781,Active,Orphanet,ORPHA:101334,Disorder,[Disease],African tick typhus,,"A rare bacterial infectious disease caused by the tick-borne bacterium Rickettsia africae, characterized by acute onset of fever accompanied by myalgia, localized lymphadenitis, and a papulovesicular rash. In most cases at least one, sometimes multiple, inoculation eschars are observed. Clustering of cases is frequent.",,,,,,,,, +GARD:19782,Active,Orphanet,ORPHA:101435,Group of disorders,[Category],Rare genetic eye disease,[Rare genetic ophthalmologic disease],,,,,,,,,, +GARD:19783,Active,Orphanet,ORPHA:101685,Disorder,[Disease],Rare non-syndromic intellectual disability,[Rare NSID],"Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.",,,,,,,,, +GARD:19784,Active,Orphanet,ORPHA:101932,Disorder,[Morphological anomaly],Anomaly of the mitral subvalvular apparatus,,"A group of rare congenital mitral malformations characterized by anomalies of the chordae tendineae and papillary muscles. This comprises anomalous mitral arcade or hammock valve (due to thickened and extremely short chordae tendineae), straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired left ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.",,,,,,,,, +GARD:19785,Active,Orphanet,ORPHA:101934,Group of disorders,[Category],Genetic cardiac rhythm disease,,,,,,,,,,, +GARD:19786,Active,Orphanet,ORPHA:101936,Group of disorders,[Category],Rare gastroesophageal disease,,,,,,,,,,, +GARD:19787,Active,Orphanet,ORPHA:101937,Group of disorders,[Category],Rare pancreatic disease,,,,,,,,,,, +GARD:19788,Active,Orphanet,ORPHA:101938,Group of disorders,[Category],Rare vascular liver disease,,,,,,,,,,, +GARD:19789,Active,Orphanet,ORPHA:101939,Group of disorders,[Category],Rare parenchymal liver disease,,,,,,,,,,, +GARD:19790,Active,Orphanet,ORPHA:101940,Group of disorders,[Category],Rare metabolic liver disease,,,,,,,,,,, +GARD:19791,Active,Orphanet,ORPHA:101941,Group of disorders,[Category],Rare biliary tract disease,,,,,,,,,,, +GARD:19792,Active,Orphanet,ORPHA:101943,Group of disorders,[Category],Rare hepatic and biliary tract tumor,,,,,,,,,,, +GARD:19793,Active,Orphanet,ORPHA:101944,Group of disorders,[Category],Rare pulmonary disease,,,,,,,,,,, +GARD:19794,Active,Orphanet,ORPHA:101945,Group of disorders,[Category],Rare bronchopulmonary tumor,,,,,,,,,,, +GARD:19795,Active,Orphanet,ORPHA:101950,Group of disorders,[Category],Rare eye tumor,,,,,,,,,,, +GARD:19796,Active,Orphanet,ORPHA:101952,Group of disorders,[Category],Rare diabetes mellitus,,,,,,,,,,, +GARD:19797,Active,Orphanet,ORPHA:101953,Group of disorders,[Category],Rare dyslipidemia,,,,,,,,,,, +GARD:19798,Active,Orphanet,ORPHA:101954,Group of disorders,[Category],Rare adrenal disease,,,,,,,,,,, +GARD:19799,Active,Orphanet,ORPHA:101955,Group of disorders,[Category],Rare thyroid disease,,,,,,,,,,, +GARD:198,Active,Orphanet,ORPHA:83419,Subtype of disorder,[Clinical subtype],Proximal spinal muscular atrophy type 3,"[Juvenile spinal muscular atrophy, Kugelberg-Welander disease, SMA type 3, SMA type III, SMA-III, SMA3]","A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heterogeneous but walking is typically acquired.",[253400],,,,,Spinal muscular atrophy type 3,TRUE,FALSE,Active +GARD:19800,Active,Orphanet,ORPHA:101956,Group of disorders,[Category],Polyendocrinopathy,,,,,,,,,,, +GARD:19801,Active,Orphanet,ORPHA:101957,Group of disorders,[Category],Pituitary deficiency,,,,,,,,,,, +GARD:19802,Active,Orphanet,ORPHA:101958,Group of disorders,[Category],Primary adrenal insufficiency,,,,,,,,,,, +GARD:19803,Active,Orphanet,ORPHA:101959,Group of disorders,[Category],Chronic primary adrenal insufficiency,"[CPAI, Chronic adrenocorticoid insufficiency]",Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.,,,,,,,,, +GARD:19804,Active,Orphanet,ORPHA:101960,Group of disorders,[Category],Genetic chronic primary adrenal insufficiency,,,,,,,,,,, +GARD:19805,Active,Orphanet,ORPHA:101963,Group of disorders,[Category],Acquired chronic primary adrenal insufficiency,,,,,,,,,,, +GARD:19806,Active,Orphanet,ORPHA:101972,Group of disorders,[Clinical group],Combined T and B cell immunodeficiency,,,,,,,,,,, +GARD:19807,Active,Orphanet,ORPHA:101977,Group of disorders,[Category],Immunodeficiency predominantly affecting antibody production,,,,,,,,,,, +GARD:19808,Active,Orphanet,ORPHA:101985,Group of disorders,[Category],Quantitative and/or qualitative congenital phagocyte defect,,,,,,,,,,, +GARD:19809,Active,Orphanet,ORPHA:101987,Group of disorders,[Category],Constitutional neutropenia,,,,,,,,,,, +GARD:19810,Active,Orphanet,ORPHA:101988,Group of disorders,[Category],Primary immunodeficiency due to a defect in innate immunity,,,,,,,,,,, +GARD:19811,Active,Orphanet,ORPHA:101992,Group of disorders,[Category],Immunodeficiency due to a complement cascade protein anomaly,,,,,,,,,,, +GARD:19812,Active,Orphanet,ORPHA:101995,Group of disorders,[Category],Periodic fever syndrome,,,,,,,,,,, +GARD:19813,Active,Orphanet,ORPHA:101997,Group of disorders,[Category],Primary immunodeficiency,,,,,,,,,,, +GARD:19814,Active,Orphanet,ORPHA:101998,Group of disorders,[Category],Rare epilepsy,,,,,,,,,,, +GARD:19815,Active,Orphanet,ORPHA:102000,Group of disorders,[Category],Medullar disease,,,,,,,,,,, +GARD:19816,Active,Orphanet,ORPHA:102002,Group of disorders,[Category],Rare ataxia,,,,,,,,,,, +GARD:19817,Active,Orphanet,ORPHA:102003,Group of disorders,[Category],Rare movement disorder,,,,,,,,,,, +GARD:19818,Active,Orphanet,ORPHA:102005,Group of disorders,[Category],Brain inflammatory disease,,,,,,,,,,, +GARD:19819,Active,Orphanet,ORPHA:102006,Group of disorders,[Category],Neurovascular malformation,,,,,,,,,,, +GARD:19820,Active,Orphanet,ORPHA:102010,Group of disorders,[Category],Other syndrome with lissencephaly as a major feature,,,,,,,,,,, +GARD:19821,Active,Orphanet,ORPHA:102011,Group of disorders,[Clinical group],Lissencephaly type 3,,,,,,,,,,, +GARD:19822,Active,Orphanet,ORPHA:102012,Group of disorders,[Clinical group],Pure hereditary spastic paraplegia,"[Pure HSP, Pure SPG, Pure familial spastic paraplegia, Uncomplicated HSP, Uncomplicated SPG, Uncomplicated familial spastic paraplegia, Uncomplicated hereditary spastic paraplegia]",,,,,,,,,, +GARD:19823,Active,Orphanet,ORPHA:102013,Group of disorders,[Clinical group],Complex hereditary spastic paraplegia,"[Complex HSP, Complex SPG, Complex familial spastic paraplegia, Complicated HSP, Complicated SPG, Complicated familial spastic paraplegia, Complicated hereditary spastic paraplegia]",,,,,,,,,, +GARD:19824,Active,Orphanet,ORPHA:102014,Group of disorders,[Category],Autosomal dominant limb-girdle muscular dystrophy,,,,,,,,,,, +GARD:19825,Active,Orphanet,ORPHA:102015,Group of disorders,[Category],Autosomal recessive limb-girdle muscular dystrophy,,,,,,,,,,, +GARD:19826,Active,Orphanet,ORPHA:102020,Group of disorders,[Category],Autosomal monosomy,[Autosomal deletion],,,,,,,,,, +GARD:19827,Active,Orphanet,ORPHA:102021,Group of disorders,[Category],Rickettsial disease,[Rickettsiae disease],,,,,,,,,, +GARD:19828,Active,Orphanet,ORPHA:102022,Group of disorders,[Category],Spotted fever rickettsiosis,[Spotted fever rickettsiae disease],,,,,,,,,, +GARD:19829,Active,Orphanet,ORPHA:102023,Group of disorders,[Category],Typhus-group rickettsiosis,[Typhus-group rickettsiae disease],,,,,,,,,, +GARD:1983,Legacy,GARD,,,,,,,,,,,,Dupont Sellier Chochillon syndrome,TRUE,FALSE,Active +GARD:19830,Active,Orphanet,ORPHA:102024,Group of disorders,[Category],Human herpesvirus 8-related disorder,[HHV-8-related disorder],,,,,,,,,, +GARD:19831,Active,Orphanet,ORPHA:102237,Group of disorders,[Category],Unexplained periodic fever syndrome,,,,,,,,,,, +GARD:19832,Active,Orphanet,ORPHA:102283,Group of disorders,[Category],Multiple congenital anomalies/dysmorphic syndrome-intellectual disability,"[MCA/MR, Multiple congenital anomalies-intellectual disability with or without dysmorphism]",,,,,,,,,, +GARD:19833,Active,Orphanet,ORPHA:102285,Group of disorders,[Category],Multiple congenital anomalies/dysmorphic syndrome without intellectual disability,"[MCA without intellectual disability, Multiple congenital anomalies without intellectual disability with or without dysmorphism]",,,,,,,,,, +GARD:19834,Active,Orphanet,ORPHA:102369,Group of disorders,[Category],Rare syndromic intellectual disability,,,,,,,,,,, +GARD:19835,Active,Orphanet,ORPHA:102379,Disorder,[Disease],Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent,[AML and myelodysplastic syndromes related to alkylating agent],"A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).",,,,,,,,, +GARD:19836,Active,Orphanet,ORPHA:102381,Disorder,[Disease],Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor,[AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor],"A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.",,,,,,,,, +GARD:19837,Active,Orphanet,ORPHA:102724,Disorder,[Disease],Acute myeloid leukemia with t(8;21)(q22;q22) translocation,[AML with t(8;21)(q22;q22) translocation],"A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count.",,,,,,,,, +GARD:19838,Active,Orphanet,ORPHA:103907,Disorder,[Disease],Chronic diarrhea due to glucoamylase deficiency,[Maltase-glucoamylase deficiency],"A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.",,,,,,,,, +GARD:19839,Active,Orphanet,ORPHA:103910,Disorder,[Disease],Congenital enterocyte heparan sulfate deficiency,,"A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.",,,,,,,,, +GARD:1984,Legacy,GARD,,,,,,,,,,,,Dwarfism bluish sclerae,TRUE,FALSE,Active +GARD:19840,Active,Orphanet,ORPHA:103920,Disorder,[Disease],Undetermined colitis,,Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohn’s disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.,,,,,,,,, +GARD:19841,Active,Orphanet,ORPHA:104003,Group of disorders,[Category],Congenital intestinal transport defect,,,,,,,,,,, +GARD:19842,Active,Orphanet,ORPHA:104004,Group of disorders,[Category],Intestinal disease due to vitamin absorption anomaly,,,,,,,,,,, +GARD:19843,Active,Orphanet,ORPHA:104005,Group of disorders,[Category],Intestinal disease due to fat malabsorption,,,,,,,,,,, +GARD:19844,Active,Orphanet,ORPHA:104006,Group of disorders,[Category],Congenital intestinal disease due to an enzymatic defect,,,,,,,,,,, +GARD:19845,Active,Orphanet,ORPHA:104007,Group of disorders,[Category],Congenital enteropathy involving intestinal mucosa development,,,,,,,,,,, +GARD:19846,Active,Orphanet,ORPHA:104009,Group of disorders,[Category],Rare disease involving intestinal motility,,,,,,,,,,, +GARD:19847,Active,Orphanet,ORPHA:104010,Group of disorders,[Clinical group],Intestinal polyposis syndrome,,,,,,,,,,, +GARD:19848,Active,Orphanet,ORPHA:104011,Group of disorders,[Category],Rare tumor of intestine,"[Rare intestinal tumor, Rare tumor of bowel]",,,,,,,,,, +GARD:19849,Active,Orphanet,ORPHA:104012,Group of disorders,[Category],Rare inflammatory bowel disease,,,,,,,,,,, +GARD:1985,Legacy,GARD,,,,,,,,,,,,Dwarfism deafness retinitis pigmentosa,TRUE,FALSE,Active +GARD:19850,Active,Orphanet,ORPHA:104013,Group of disorders,[Category],Metabolic disease with intestinal involvement,,,,,,,,,,, +GARD:19851,Active,Orphanet,ORPHA:104075,Disorder,[Disease],Adenocarcinoma of the small intestine,[Adenocarcinoma of the small bowel],"Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis.",,,,,,,,, +GARD:19852,Active,Orphanet,ORPHA:104076,Disorder,[Disease],Leiomyosarcoma of small intestine,,"Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases.",,,,,,,,, +GARD:19853,Active,Orphanet,ORPHA:104077,Subtype of disorder,[Etiological subtype],Myopathic intestinal pseudoobstruction,,,,,,,,,,, +GARD:19854,Active,Orphanet,ORPHA:104078,Subtype of disorder,[Etiological subtype],Unclassified intestinal pseudoobstruction,,,,,,,,,,, +GARD:19855,Active,Orphanet,ORPHA:108959,Group of disorders,[Category],Non-syndromic esophageal malformation,,,,,,,,,,, +GARD:19856,Active,Orphanet,ORPHA:108961,Group of disorders,[Category],Syndromic esophageal malformation,,,,,,,,,,, +GARD:19857,Active,Orphanet,ORPHA:108963,Group of disorders,[Category],Non-syndromic gastroduodenal malformation,,,,,,,,,,, +GARD:19858,Active,Orphanet,ORPHA:108965,Group of disorders,[Category],Syndromic gastroduodenal malformation,,,,,,,,,,, +GARD:19859,Active,Orphanet,ORPHA:108967,Group of disorders,[Category],Non-syndromic intestinal malformation,,,,,,,,,,, +GARD:1986,Legacy,GARD,,,,,,,,,,,,Dwarfism lethal type advanced bone age,TRUE,FALSE,Active +GARD:19860,Active,Orphanet,ORPHA:108969,Group of disorders,[Category],Syndromic intestinal malformation,,,,,,,,,,, +GARD:19861,Active,Orphanet,ORPHA:108971,Group of disorders,[Category],Non-syndromic visceral malformation,,,,,,,,,,, +GARD:19862,Active,Orphanet,ORPHA:108973,Group of disorders,[Category],Syndromic visceral malformation,,,,,,,,,,, +GARD:19863,Active,Orphanet,ORPHA:108977,Group of disorders,[Category],Non-syndromic diaphragmatic or abdominal wall malformation,,,,,,,,,,, +GARD:19864,Active,Orphanet,ORPHA:108979,Group of disorders,[Category],Syndromic diaphragmatic or abdominal wall malformation,,,,,,,,,,, +GARD:19865,Active,Orphanet,ORPHA:108989,Group of disorders,[Category],Non-syndromic central nervous system malformation,,,,,,,,,,, +GARD:19866,Active,Orphanet,ORPHA:108991,Group of disorders,[Category],Syndrome with a central nervous system malformation as a major feature,,,,,,,,,,, +GARD:19867,Active,Orphanet,ORPHA:108993,Group of disorders,[Category],Non-syndromic respiratory or mediastinal malformation,,,,,,,,,,, +GARD:19868,Active,Orphanet,ORPHA:108995,Group of disorders,[Category],Syndromic respiratory or mediastinal malformation,,,,,,,,,,, +GARD:19869,Active,Orphanet,ORPHA:108997,Group of disorders,[Category],Rare anemia,,,,,,,,,,, +GARD:19870,Active,Orphanet,ORPHA:109007,Group of disorders,[Category],Arthrogryposis syndrome,,,,,,,,,,, +GARD:19871,Active,Orphanet,ORPHA:109009,Group of disorders,[Category],Syndrome with limb malformations as a major feature,,,,,,,,,,, +GARD:19872,Active,Orphanet,ORPHA:109011,Group of disorders,[Category],Non-syndromic limb malformation,,,,,,,,,,, +GARD:19873,Active,Orphanet,ORPHA:117569,Group of disorders,[Category],Rare intestinal disease,,,,,,,,,,, +GARD:19874,Active,Orphanet,ORPHA:117573,Group of disorders,[Category],Syndromic anorectal malformation,,,,,,,,,,, +GARD:19875,Active,Orphanet,ORPHA:137577,Disorder,[Particular clinical situation in a disease or syndrome],Neonatal hypoxic and ischemic brain injury,"[HIE, Hypoxic and ischemic brain injury in the newborn, Hypoxic-ischemic encephalopathy, Perinatal asphyxia, Perinatal hypoxia]","A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy.",,,,,,,,, +GARD:19876,Active,Orphanet,ORPHA:137583,Disorder,[Disease],Vulvar intraepithelial neoplasia,"[VIN, Vulvar intraepithelial tumor]","A rare vulvovaginal tumor characterized by intraepithelial neoplastic proliferation of the vulvar epithelium, histologically presenting proliferation of atypical basal cells with basal layer involvement, enlarged nuclei, hyperchromasia, pleomorphic cells and increased numbers of mitotic figures. Patients are frequently asymptomatic, although vulvar pruritis/pain/burning, dysuria and/or dyspareunia may be associated. Concurrent anogenital involvement is frequent. Two subtypes, usual type VIN (uVIN) and differentiated type VIN (dVIN) exist, with uVIN typically being associated with HPV infection and presenting multifocal, elevated lesions around the introitus and/or labia majora, and dVIN being related to chronic inflammation and lesions consisting of poorly demarcated pink or white plaques that are often associated with lichen sclerosis or lichen planus. Diffusely positive p16 immunohistochemistry and high Ki-67 proliferation index in uVIN futher differentiates this subtype from dVIN, this latter being consistently negative for p16 while presenting p53 positivity.",,,,,,,,, +GARD:19877,Active,Orphanet,ORPHA:137593,Disorder,[Disease],Infectious epithelial keratitis,,"Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.",,,,,,,,, +GARD:19878,Active,Orphanet,ORPHA:137596,Disorder,[Disease],Neurotrophic keratopathy,[Neurotrophic keratitis],"Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.",,,,,,,,, +GARD:19879,Active,Orphanet,ORPHA:137599,Disorder,[Disease],Herpes simplex virus stromal keratitis,,"Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.",,,,,,,,, +GARD:1988,Legacy,GARD,,,,,,,,,,,,Dwarfism,FALSE,FALSE,Active +GARD:19880,Active,Orphanet,ORPHA:137602,Disorder,[Disease],Corneal endotheliitis,,"A rare corneal disorder characterized by inflammation of the corneal endothelium with corneal edema, keratic precipitates, mild to moderate anterior chamber reaction, and subsequent visual disturbances. It is often associated with increased intraocular pressure. Based on the distribution of the lesions, a linear, sectorial, disciform, and diffuse form can be distinguished.",,,,,,,,, +GARD:19881,Active,Orphanet,ORPHA:137608,Disorder,[Malformation syndrome],Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,[SOLAMEN syndrome],"Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.",,,,,,,,, +GARD:19882,Active,Orphanet,ORPHA:137622,Disorder,[Malformation syndrome],Intractable diarrhea-choanal atresia-eye anomalies syndrome,,"Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.",,,,,,,,, +GARD:19883,Active,Orphanet,ORPHA:137628,Disorder,[Malformation syndrome],Cardiac anomalies-heterotaxy syndrome,,"Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.",,,,,,,,, +GARD:19884,Active,Orphanet,ORPHA:137698,Disorder,[Particular clinical situation in a disease or syndrome],Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk,[CMV disease in patients with impaired cell mediated immunity deemed at risk],,,,,,,,,, +GARD:19885,Active,Orphanet,ORPHA:137814,Disorder,[Disease],Macular amyloidosis,,"Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.",,,,,,,,, +GARD:19886,Active,Orphanet,ORPHA:137820,Disorder,[Disease],Extrapelvic endometriosis,[Endometriosis outside pelvis],"A rare, non-malformative gynecologic disease characterized by the presence of functional endometrial glands and stroma in extrapelvic locations, such as lungs, pleura, kidneys, bladder, abdominal wall, umbilicus, and cesarean section scar among others. Clinical manifestations are menstrually-related and depend on the location of the ectopic tissue, but in general include pain, mass/nodule, swelling and/or bleeding in the involved area.",,,,,,,,, +GARD:19887,Active,Orphanet,ORPHA:137867,Disorder,[Disease],Madras motor neuron disease,[MMND],"Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.",,,,,,,,, +GARD:19888,Active,Orphanet,ORPHA:137905,Group of disorders,[Category],Syndromic optic nerve hypoplasia,,,,,,,,,,, +GARD:19889,Active,Orphanet,ORPHA:137917,Subtype of disorder,[Clinical subtype],"Choanal atresia, unilateral",,"Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.",,,,,,,,, +GARD:1989,Legacy,GARD,,,,,,,,,,,,Dwarfism stiff joint ocular abnormalities,TRUE,FALSE,Retired +GARD:19890,Active,Orphanet,ORPHA:137920,Subtype of disorder,[Clinical subtype],"Choanal atresia, bilateral",,"Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.",,,,,,,,, +GARD:19891,Active,Orphanet,ORPHA:137926,Disorder,[Malformation syndrome],Primary laryngeal lymphangioma,,"Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.",,,,,,,,, +GARD:19892,Active,Orphanet,ORPHA:137929,Disorder,[Disease],Neonatal brainstem dysfunction,,"Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.",,,,,,,,, +GARD:19893,Active,Orphanet,ORPHA:137935,Disorder,[Disease],Laryngotracheal angioma,,"A rare benign vascular tumor characterized by rapid growth after birth (followed by spontaneous partial regression over the course of years), potentially leading to life-threatening airway obstruction due to the subglottic location. Patients present with respiratory symptoms including biphasic stridor, recurrent croup, cyanosis, apnea, and sternal and intercostal retractions. The tumor may be accompanied by cutaneous hemangiomata, especially in the lower facial (""beard"") distribution.",,,,,,,,, +GARD:19894,Active,Orphanet,ORPHA:138041,Group of disorders,[Category],Pierre Robin syndrome associated with collagen disease,[Pierre Robin sequence associated with collagen disease],,,,,,,,,, +GARD:19895,Active,Orphanet,ORPHA:138044,Group of disorders,[Category],Rare disease with Pierre Robin syndrome,,,,,,,,,,, +GARD:19896,Active,Orphanet,ORPHA:138047,Group of disorders,[Category],Pierre Robin syndrome associated with a chromosomal anomaly,[Pierre Robin sequence associated with a chromosomal anomaly],,,,,,,,,, +GARD:19897,Active,Orphanet,ORPHA:138050,Group of disorders,[Category],Pierre Robin syndrome associated with branchial archs anomalies,[Pierre Robin sequence associated with branchial archs anomalies],,,,,,,,,, +GARD:19898,Active,Orphanet,ORPHA:138055,Group of disorders,[Category],Pierre Robin syndrome associated with bone disease,[Pierre Robin sequence associated with bone disease],,,,,,,,,, +GARD:19899,Active,Orphanet,ORPHA:138059,Group of disorders,[Category],Teratogenic Pierre Robin syndrome,[Teratogenic Pierre Robin sequence],,,,,,,,,, +GARD:199,Legacy,GARD,,,,,,,,,,,,Cardiac hydatid cysts with intracavitary expansion,TRUE,FALSE,Active +GARD:1990,Legacy,GARD,,,,,,,,,,,,Syndesmodysplasic dwarfism,TRUE,FALSE,Retired +GARD:19900,Active,Orphanet,ORPHA:139009,Group of disorders,[Category],Developmental anomaly of metabolic origin,,,,,,,,,,, +GARD:19901,Active,Orphanet,ORPHA:139012,Group of disorders,[Category],Rare bone development disorder,[Rare skeletal development disorder],,,,,,,,,, +GARD:19902,Active,Orphanet,ORPHA:139021,Group of disorders,[Category],Malformation syndrome with short stature,,,,,,,,,,, +GARD:19903,Active,Orphanet,ORPHA:139024,Group of disorders,[Category],Overgrowth/obesity syndrome,,,,,,,,,,, +GARD:19904,Active,Orphanet,ORPHA:139027,Group of disorders,[Category],Rare developmental defect with skin/mucosae involvement,,,,,,,,,,, +GARD:19905,Active,Orphanet,ORPHA:139030,Group of disorders,[Category],Rare developmental defect with connective tissue involvement,,,,,,,,,,, +GARD:19906,Active,Orphanet,ORPHA:139033,Group of disorders,[Category],Progeroid syndrome,,,,,,,,,,, +GARD:19907,Active,Orphanet,ORPHA:139036,Group of disorders,[Category],Branchial arch or oral-acral syndrome,,,,,,,,,,, +GARD:19908,Active,Orphanet,ORPHA:139039,Group of disorders,[Category],Orofacial clefting syndrome,,,,,,,,,,, +GARD:19909,Active,Orphanet,ORPHA:139042,Group of disorders,[Category],Malformation syndrome with odontal and/or periodontal component,,,,,,,,,,, +GARD:1991,Legacy,GARD,,,,,,,,,,,,Dwarfism tall vertebrae,TRUE,FALSE,Retired +GARD:19910,Active,Orphanet,ORPHA:139390,Group of disorders,[Clinical group],Non-syndromic craniosynostosis,[Isolated craniosynostosis],,,,,,,,,, +GARD:19911,Active,Orphanet,ORPHA:139393,Group of disorders,[Category],Syndromic craniosynostosis,,,,,,,,,,, +GARD:19912,Active,Orphanet,ORPHA:139414,Disorder,[Disease],Congenital panfollicular nevus,,"Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.",,,,,,,,, +GARD:19913,Active,Orphanet,ORPHA:139417,Disorder,[Disease],Acute transverse myelitis,,A rare inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).,,,,,,,,, +GARD:19914,Active,Orphanet,ORPHA:139423,Subtype of disorder,[Clinical subtype],Idiopathic acute transverse myelitis,,"A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.",,,,,,,,, +GARD:19915,Active,Orphanet,ORPHA:139426,Disorder,[Disease],Perioral myoclonia with absences,[POMA],"A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.",,,,,,,,, +GARD:19916,Active,Orphanet,ORPHA:139431,Disorder,[Disease],Jeavons syndrome,"[EMEA, Eyelid myoclonia with and without absences]","A rare, idiopathic, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.",,,,,,,,, +GARD:19917,Active,Orphanet,ORPHA:139444,Disorder,[Disease],Leukoencephalopathy with bilateral anterior temporal lobe cysts,,"A rare, nonprogressive, neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.",,,,,,,,, +GARD:19918,Active,Orphanet,ORPHA:139447,Disorder,[Disease],Progressive cavitating leukoencephalopathy,,"A rare leukoencephalopathy characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.",,,,,,,,, +GARD:19919,Active,Orphanet,ORPHA:139512,Disorder,[Disease],Neuropathy with hearing impairment,,This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.,,,,,,,,, +GARD:1992,Legacy,GARD,,,,,,,,,,,,Dwarfism thin bones multiple fractures,TRUE,FALSE,Active +GARD:19920,Active,Orphanet,ORPHA:139573,Disorder,[Disease],Hereditary sensory and autonomic neuropathy with deafness and global delay,"[HSAN with deafness and global delay, HSAN with hearing loss and global delay, Hereditary sensory and autonomic neuropathy with hearing loss and global delay]","This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.",,,,,,,,, +GARD:19921,Active,Orphanet,ORPHA:140162,Group of disorders,[Category],Inherited cancer-predisposing syndrome,,,,,,,,,,, +GARD:19922,Active,Orphanet,ORPHA:140286,Disorder,[Disease],Secondary hypoparathyroidism due to impaired parathormon secretion,,,,,,,,,,, +GARD:19923,Active,Orphanet,ORPHA:140453,Group of disorders,[Category],Autosomal dominant hereditary demyelinating motor and sensory neuropathy,,,,,,,,,,, +GARD:19924,Active,Orphanet,ORPHA:140456,Group of disorders,[Category],Autosomal dominant hereditary axonal motor and sensory neuropathy,,,,,,,,,,, +GARD:19925,Active,Orphanet,ORPHA:140459,Group of disorders,[Category],Autosomal recessive hereditary demyelinating motor and sensory neuropathy,,,,,,,,,,, +GARD:19926,Active,Orphanet,ORPHA:140465,Group of disorders,[Category],Autosomal dominant distal hereditary motor neuropathy,"[Autosomal dominant dHMN, Autosomal dominant distal spinal muscular atrophy]",,,,,,,,,, +GARD:19927,Active,Orphanet,ORPHA:140468,Group of disorders,[Category],Autosomal recessive distal hereditary motor neuropathy,"[Autosomal recessive dHMN, Autosomal recessive dSMA, Autosomal recessive distal spinal muscular atrophy]",,,,,,,,,, +GARD:19928,Active,Orphanet,ORPHA:140474,Group of disorders,[Category],Autosomal dominant hereditary sensory and autonomic neuropathy,,,,,,,,,,, +GARD:19929,Active,Orphanet,ORPHA:140477,Group of disorders,[Category],Autosomal recessive hereditary sensory and autonomic neuropathy,,,,,,,,,,, +GARD:1993,Active,Orphanet,ORPHA:2274,Disorder,[Disease],Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,[Dykes-Marks-Harper syndrome],"Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.",[242520],,,,,Dykes Markes Harper syndrome,TRUE,FALSE,Active +GARD:19930,Active,Orphanet,ORPHA:140653,Group of disorders,[Category],Neuro-ophthalmological disease,,,,,,,,,,, +GARD:19931,Active,Orphanet,ORPHA:140874,Group of disorders,[Category],Joubert syndrome and related disorders,[JSRD],"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.",,,,,,,,, +GARD:19932,Active,Orphanet,ORPHA:140933,Disorder,[Disease],Linear atrophoderma of Moulin,,"Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.",,,,,,,,, +GARD:19933,Active,Orphanet,ORPHA:140949,Disorder,[Particular clinical situation in a disease or syndrome],Low-flow priapism,,,,,,,,,,, +GARD:19934,Active,Orphanet,ORPHA:141013,Disorder,[Morphological anomaly],First branchial cleft anomaly,"[First branchial cleft cyst, First branchial cleft fistula]","A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywhere between the external auditory canal and the mandibular angle, including parotid gland.",,,,,,,,, +GARD:19935,Active,Orphanet,ORPHA:141030,Disorder,[Morphological anomaly],Third branchial cleft anomaly,"[Third branchial cleft cyst, Third branchial cleft fistula]","A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia,and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula.",,,,,,,,, +GARD:19936,Active,Orphanet,ORPHA:141037,Disorder,[Morphological anomaly],Fourth branchial cleft anomaly,"[Fourth branchial cleft cyst, Fourth branchial cleft fistula]","A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula.",,,,,,,,, +GARD:19937,Active,Orphanet,ORPHA:141046,Disorder,[Morphological anomaly],Cervical dermoid cyst,[Dermoid cyst of the neck],"Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.",,,,,,,,, +GARD:19938,Active,Orphanet,ORPHA:141051,Disorder,[Morphological anomaly],Facial dermoid cyst,[Dermoid cyst of the face],"Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.",,,,,,,,, +GARD:19939,Active,Orphanet,ORPHA:141061,Disorder,[Morphological anomaly],Commissural lip fistula,,"A rare otorhinolaryngological malformation characterized by a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection.",,,,,,,,, +GARD:1994,Active,Orphanet,ORPHA:1765,Disorder,[Malformation syndrome],Dyschondrosteosis-nephritis syndrome,,"Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis.",[127350],,,,,Dyschondrosteosis nephritis,TRUE,FALSE,Active +GARD:19940,Active,Orphanet,ORPHA:141064,Disorder,[Morphological anomaly],Lower lip fistula,,"A rare otorhinolaryngological malformation characterized by congenital, typically bilateral and paramedian, symmetric or asymmetric fistulae in the lower lip, which are lined by labial mucosa. The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secretion of saliva from the opening. Infections may also occur.",,,,,,,,, +GARD:19941,Active,Orphanet,ORPHA:141067,Disorder,[Morphological anomaly],Cervicofacial fibrochondroma,,"A rare extraskeletal chondroma located in the head and neck region, histologically typically characterized by lobules of mature, adult hyaline cartilage with chondrocytic cells identifiable in lacunae, and prominent fibrosis. Malignant transformation has not been described.",,,,,,,,, +GARD:19942,Active,Orphanet,ORPHA:141071,Disorder,[Morphological anomaly],Digestive duplication cyst of the tongue,"[Enteric duplication cyst of the tongue, Foregut duplication cyst of the tongue, Gastric duplication cyst of the tongue]","Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.",,,,,,,,, +GARD:19943,Active,Orphanet,ORPHA:141077,Subtype of disorder,[Clinical subtype],Epignathus,[Oropharyngeal teratoma],"Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.",,,,,,,,, +GARD:19944,Active,Orphanet,ORPHA:141083,Disorder,[Morphological anomaly],Nasolacrimal duct cyst,"[Dacryocele, Dacryocystocele, Nasolacrimal mucocele]","Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.",,,,,,,,, +GARD:19945,Active,Orphanet,ORPHA:141091,Disorder,[Malformation syndrome],Polyrrhinia,"[Double nose, Polyrhinia]","Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.",,,,,,,,, +GARD:19946,Active,Orphanet,ORPHA:141096,Disorder,[Malformation syndrome],Supernumerary nostril,[Accessory nostril],"Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia (see this term) there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.",,,,,,,,, +GARD:19947,Active,Orphanet,ORPHA:141099,Disorder,[Malformation syndrome],Proboscis lateralis,[Congenital tubular nose],"Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms).",,,,,,,,, +GARD:19948,Active,Orphanet,ORPHA:141107,Subtype of disorder,[Clinical subtype],Nasopharyngeal teratoma,[Teratoma of the nasopharynx],,,,,,,,,, +GARD:19949,Active,Orphanet,ORPHA:141112,Disorder,[Disease],Nasal glial heterotopia,[Nasal glioma],"Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.",,,,,,,,, +GARD:19950,Active,Orphanet,ORPHA:141115,Subtype of disorder,[Clinical subtype],Nasal ganglioglioma,,"Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.",,,,,,,,, +GARD:19951,Active,Orphanet,ORPHA:141118,Subtype of disorder,[Clinical subtype],Nasal encephalocele,,"Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.",,,,,,,,, +GARD:19952,Active,Orphanet,ORPHA:141121,Disorder,[Malformation syndrome],Congenital subglottic stenosis,,"A rare larynx anomaly characterized by a partial or complete narrowing of the upper airway extending from just below the vocal folds to the lower border of the cricoid cartilage. Clinical presentation is variable and includes recurrent, croup-like, upper respiratory infections, stridor, dyspnea, barking cough, and in most severe cases acute airway compromise at delivery. It may be an isolated finding, or associated with other congenital anomalies and syndromes.",,,,,,,,, +GARD:19953,Active,Orphanet,ORPHA:141124,Disorder,[Morphological anomaly],Congenital laryngeal cyst,,"Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.",,,,,,,,, +GARD:19954,Active,Orphanet,ORPHA:141163,Disorder,[Malformation syndrome],Glossopalatine ankylosis,[Cosack syndrome],Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.,,,,,,,,, +GARD:19955,Active,Orphanet,ORPHA:141168,Disorder,[Malformation syndrome],Frontonasal arteriovenous malformation,,"Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.",,,,,,,,, +GARD:19956,Active,Orphanet,ORPHA:141171,Disorder,[Malformation syndrome],Maxillary arteriovenous malformation,[Arteriovenous malformation of maxilla],"Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.",,,,,,,,, +GARD:19957,Active,Orphanet,ORPHA:141174,Disorder,[Malformation syndrome],Mandibular arteriovenous malformation,[Arteriovenous malformation of mandible],"Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.",,,,,,,,, +GARD:19958,Active,Orphanet,ORPHA:141184,Disorder,[Disease],Rapidly involuting congenital hemangioma,[RICH],Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH; see this term) mainly because they undergo rapid postnatal involution.,,,,,,,,, +GARD:19959,Active,Orphanet,ORPHA:141194,Disorder,[Malformation syndrome],Cerebrofacial arteriovenous metameric syndrome type 1,[CAMS1],"A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the hypothalamus and nasal region (medial prosencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry.",,,,,,,,, +GARD:1996,Active,Orphanet,ORPHA:241,Disorder,[Disease],Dyschromatosis universalis hereditaria,,"A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported.","[127500, 612715, 615402]",,,,,Dyschromatosis universalis hereditaria,TRUE,FALSE,Active +GARD:19960,Active,Orphanet,ORPHA:141199,Disorder,[Malformation syndrome],Cerebrofacial arteriovenous metameric syndrome type 3,[CAMS3],"A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the cerebellum, pons, and mandible (lateral rhombencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry.",,,,,,,,, +GARD:19961,Active,Orphanet,ORPHA:141209,Disorder,[Malformation syndrome],Diffuse lymphatic malformation,"[Diffuse lymphangioma, Diffuse lymphangiomatosis, Disseminated lymphangioma, Disseminated lymphangiomatosis, Disseminated lymphatic malformation, GLA, Generalized lymphatic anomaly]","A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.",,,,,,,,, +GARD:19962,Active,Orphanet,ORPHA:141214,Disorder,[Malformation syndrome],Isolated congenital syngnathia,[Isolated congenital maxillomandibular fusion],"Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.",,,,,,,,, +GARD:19963,Active,Orphanet,ORPHA:141219,Disorder,[Morphological anomaly],Nasal dorsum fistula,,"A rare otorhinolaryngological malformation characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists.",,,,,,,,, +GARD:19964,Active,Orphanet,ORPHA:141229,Group of disorders,[Category],Facial cleft,[Craniofacial cleft],,,,,,,,,, +GARD:19965,Active,Orphanet,ORPHA:141234,Group of disorders,[Clinical group],Median facial cleft,"[Midline facial cleft, Tessier number 0-14 and 30 facial cleft]",,,,,,,,,, +GARD:19966,Active,Orphanet,ORPHA:141239,Disorder,[Morphological anomaly],Median cleft of the upper lip and maxilla,,"Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaxillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.",,,,,,,,, +GARD:19967,Active,Orphanet,ORPHA:141253,Group of disorders,[Clinical group],Oblique facial cleft,[Orbitofacial cleft],,,,,,,,,, +GARD:19968,Active,Orphanet,ORPHA:141261,Disorder,[Morphological anomaly],Tessier number 5 facial cleft,,"A rare oblique facial cleft characterized by a congenital unilateral or bilateral defect beginning in the upper lip medial to the oral commissure and extending across the cheek as a groove ending between the middle and lateral third of the lower eyelid (resulting in coloboma). Bone involvement includes an alveolar cleft in the premolar region, extending across the maxilla lateral to the infraorbital nerve and up to the infraorbital rim and orbital floor. The malformation may be associated with Tessier number 3 and number 4 clefts, macrostomia, or anophthalmos.",,,,,,,,, +GARD:19969,Active,Orphanet,ORPHA:141265,Disorder,[Morphological anomaly],Tessier number 6 facial cleft,,"A rare oblique facial cleft characterized by a defect between the maxilla and the zygomatic bone, opening into the infra-orbital fissure, accompanied by coloboma of the lower eyelid and a vertical furrow on the cheek oriented either laterally to the corner of the mouth or in the direction of the angle of the mandible. The posterior aspect of the maxilla is short with a high palate and choanal atresia. The malformation is typically associated with Treacher-Collins syndrome.",,,,,,,,, +GARD:19970,Active,Orphanet,ORPHA:141269,Group of disorders,[Clinical group],Lateral facial cleft,,,,,,,,,,, +GARD:19971,Active,Orphanet,ORPHA:141288,Disorder,[Morphological anomaly],Midline cervical cleft,,"Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.",,,,,,,,, +GARD:19972,Active,Orphanet,ORPHA:155832,Group of disorders,[Category],Rare head and neck malformation,,,,,,,,,,, +GARD:19973,Active,Orphanet,ORPHA:155835,Group of disorders,[Category],Cysts and fistulae of the face and oral cavity,,,,,,,,,,, +GARD:19974,Active,Orphanet,ORPHA:155838,Disorder,[Morphological anomaly],Pinnae fistula or cyst,,"Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.",,,,,,,,, +GARD:19975,Active,Orphanet,ORPHA:155867,Group of disorders,[Clinical group],Paramedian facial cleft,[Tessier number 1-1 and 2-12 facial cleft],,,,,,,,,, +GARD:19976,Active,Orphanet,ORPHA:155878,Disorder,[Morphological anomaly],Submucosal cleft palate,,,,,,,,,,, +GARD:19977,Active,Orphanet,ORPHA:155884,Disorder,[Morphological anomaly],Coloboma of superior eyelid,[Superior palpebral coloboma],"Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.",,,,,,,,, +GARD:19978,Active,Orphanet,ORPHA:155889,Disorder,[Morphological anomaly],Coloboma of inferior eyelid,[Inferior palpebral coloboma],"Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.",,,,,,,,, +GARD:19979,Active,Orphanet,ORPHA:155896,Group of disorders,[Category],Otomandibular dysplasia,,,,,,,,,,, +GARD:1998,Active,Orphanet,ORPHA:1766,Disorder,[Disease],Dysequilibrium syndrome,"[CAMRQ syndrome, Cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome, Non-progressive cerebellar ataxia-intellectual disability syndrome, UTS, Uner Tan syndrome]","Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.","[610185, 613227, 615268, 224050]",,,,,Dysequilibrium syndrome,TRUE,FALSE,Active +GARD:19980,Active,Orphanet,ORPHA:155899,Group of disorders,[Clinical group],Mandibulofacial dysostosis,[Bilateral and symmetric oto-mandibular dysplasia],,,,,,,,,, +GARD:19981,Active,Orphanet,ORPHA:156140,Group of disorders,[Clinical group],Predominantly large-vessel vasculitis,,,,,,,,,,, +GARD:19982,Active,Orphanet,ORPHA:156143,Group of disorders,[Clinical group],Predominantly medium-vessel vasculitis,,,,,,,,,,, +GARD:19983,Active,Orphanet,ORPHA:156146,Group of disorders,[Clinical group],Predominantly small-vessel vasculitis,,,,,,,,,,, +GARD:19984,Active,Orphanet,ORPHA:156149,Group of disorders,[Category],Immune complex mediated vasculitis,,,,,,,,,,, +GARD:19985,Active,Orphanet,ORPHA:156159,Group of disorders,[Category],Isolated dystonia,[Pure dystonia],,,,,,,,,, +GARD:19986,Active,Orphanet,ORPHA:156162,Group of disorders,[Category],Renal ciliopathy,,,,,,,,,,, +GARD:19987,Active,Orphanet,ORPHA:156165,Group of disorders,[Category],Retinal ciliopathy,,,,,,,,,,, +GARD:19988,Active,Orphanet,ORPHA:156168,Group of disorders,[Category],Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene,[Retinal ciliopathy due to mutation in RP1 gene],,,,,,,,,, +GARD:19989,Active,Orphanet,ORPHA:156171,Group of disorders,[Category],Retinal ciliopathy due to mutation in the RPGR gene,,,,,,,,,,, +GARD:1999,Active,Orphanet,ORPHA:85,Group of disorders,[Clinical group],Congenital dyserythropoietic anemia,[CDA],"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms).",,,,,,Congenital dyserythropoietic anemia,TRUE,FALSE,Active +GARD:19990,Active,Orphanet,ORPHA:156174,Group of disorders,[Category],Retinal ciliopathy due to mutation in the RPGRIP gene,,,,,,,,,,, +GARD:19991,Active,Orphanet,ORPHA:156177,Group of disorders,[Category],Retinal ciliopathy due to mutation in Usher gene,,,,,,,,,,, +GARD:19992,Active,Orphanet,ORPHA:156180,Group of disorders,[Category],Retinal ciliopathy due to mutation in nephronophthisis gene,,,,,,,,,,, +GARD:19993,Active,Orphanet,ORPHA:156183,Group of disorders,[Category],Retinal ciliopathy due to mutation in Bardet-Biedl gene,,,,,,,,,,, +GARD:19994,Active,Orphanet,ORPHA:156202,Group of disorders,[Category],Otomandibular dysplasia associated with monogenic syndromes,,,,,,,,,,, +GARD:19995,Active,Orphanet,ORPHA:156212,Group of disorders,[Category],Hypoglossia/aglossia,,,,,,,,,,, +GARD:19996,Active,Orphanet,ORPHA:156215,Group of disorders,[Category],Oromandibular-limb anomalies syndrome,,,,,,,,,,, +GARD:19997,Active,Orphanet,ORPHA:156224,Group of disorders,[Category],Paralytic facial malformation,,,,,,,,,,, +GARD:19998,Active,Orphanet,ORPHA:156237,Group of disorders,[Category],Syndrome or malformation associated with head and neck malformations,,,,,,,,,,, +GARD:19999,Active,Orphanet,ORPHA:156243,Group of disorders,[Category],Pinnae and external auditory canal anomaly,,,,,,,,,,, +GARD:20,Legacy,GARD,,,,,,,,,,,,Barrett esophagus,FALSE,FALSE,Active +GARD:200,Active,Orphanet,ORPHA:443079,Disorder,[Disease],Central serous chorioretinopathy,[CSCR],"A rare, acquired, choroidal disorder characterized by subretinal detachment in the macular área and leakage of fluid under the retina that accumulates under the central macula. Symptoms tend to include blurred or distorted vision (metamorphopsia), moderate dyschromatopsia, relative central scotoma, hypermetropization, micropsia and reduced contrast sensitivity. A blurred or gray spot in the central visual field is common when the retina is detached.",,,,,,Central serous chorioretinopathy,TRUE,FALSE,Active +GARD:2000,Active,Orphanet,ORPHA:98869,Disorder,[Disease],Congenital dyserythropoietic anemia type I,"[CDA I, CDA type 1, CDA type I, Congenital dyserythropoietic anemia type 1]",Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.,"[224120, 615631]",,,,,Congenital dyserythropoietic anemia type 1,TRUE,FALSE,Active +GARD:20000,Active,Orphanet,ORPHA:156246,Group of disorders,[Category],Nose and cavum anomaly,,,,,,,,,,, +GARD:20001,Active,Orphanet,ORPHA:156249,Group of disorders,[Category],Larynx anomaly,,,,,,,,,,, +GARD:20002,Active,Orphanet,ORPHA:156252,Group of disorders,[Category],Tracheal anomaly,,,,,,,,,,, +GARD:20003,Active,Orphanet,ORPHA:156532,Group of disorders,[Category],Rare syndrome with cardiac malformations,,,,,,,,,,, +GARD:20004,Active,Orphanet,ORPHA:156601,Group of disorders,[Category],Rare genetic hepatic disease,,,,,,,,,,, +GARD:20005,Active,Orphanet,ORPHA:156604,Group of disorders,[Category],Genetic parenchymatous liver disease,,,,,,,,,,, +GARD:20006,Active,Orphanet,ORPHA:156607,Group of disorders,[Category],Genetic biliary tract disease,,,,,,,,,,, +GARD:20007,Active,Orphanet,ORPHA:156610,Group of disorders,[Category],Rare genetic respiratory disease,,,,,,,,,,, +GARD:20008,Active,Orphanet,ORPHA:156619,Group of disorders,[Category],Rare genetic urogenital disease,,,,,,,,,,, +GARD:20009,Active,Orphanet,ORPHA:156622,Group of disorders,[Category],Genetic urogenital tract malformation,,,,,,,,,,, +GARD:2001,Active,Orphanet,ORPHA:98873,Disorder,[Disease],Congenital dyserythropoietic anemia type II,"[CDA II, CDA type 2, CDA type II, Congenital dyserythropoietic anemia type 2, Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas), SEC23B-CDG]","Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.",[224100],,,,,Congenital dyserythropoietic anemia type 2,TRUE,FALSE,Active +GARD:20010,Active,Orphanet,ORPHA:156629,Group of disorders,[Category],Rare genetic cause of hypertension,,,,,,,,,,, +GARD:20011,Active,Orphanet,ORPHA:156638,Group of disorders,[Category],Rare genetic endocrine disease,,,,,,,,,,, +GARD:20012,Active,Orphanet,ORPHA:156643,Group of disorders,[Category],Genetic endocrine growth disease,,,,,,,,,,, +GARD:20013,Active,Orphanet,ORPHA:157769,Disorder,[Morphological anomaly],Situs ambiguus,"[Incomplete situs inversus, Partial situs inversus, Situs ambiguous]","A rare, genetic, developmental defect during embryogenesis characterized by a partial mirror-image transposition of intra-thoracic and/or intra-abdominal organs across the left-right axis of the body. Intra-organ variations and other malformations, such as ciliary motricity anomalies (e.g. Kartagener syndrome), biliary atresia and cardiac defects, are frequently associated. Left (polysplenia syndrome) or right (asplenia syndrome) isomerism are usually observed.",,,,,,,,, +GARD:20014,Active,Orphanet,ORPHA:157791,Disorder,[Disease],Epithelioid hemangioendothelioma,,"A rare vascular tumor characterized by a solitary lesion in the superficial or deep soft tissue of the extremities, most often originating from a small vein as a fusiform intravascular mass also infiltrating surrounding tissues. It is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma. Patients present with an often painful nodule which may be associated with edema or thrombophlebitis. In classic epithelioid hemangioendothelioma lacking atypical histological features metastatic rate and mortality are low.",,,,,,,,, +GARD:20015,Active,Orphanet,ORPHA:157808,Disorder,[Morphological anomaly],Congenital pseudoarthrosis of the limbs,[Congenital pseudarthrosis of the limbs],"Congenital pseudoarthrosis of the limbs is a rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.",,,,,,,,, +GARD:20016,Active,Orphanet,ORPHA:157826,Disorder,[Disease],Congenital epulis,"[Congenital gingival cell tumor, Congenital granular cell tumor, Neumann tumor]","A rare soft tissue tumor characterized by a benign space occupying lesion in neonates, most typically located on the gingival mucosa overlying the anterior alveolar ridge of the maxilla near the canine, although the mandibular region may also be involved. Females are much more frequently affected than males. The tumor mostly presents as a single lesion, potentially interfering with feeding and respiration. Metastasis, malignant transformation, or recurrence after excision have not been reported.",,,,,,,,, +GARD:20017,Active,Orphanet,ORPHA:157843,Group of disorders,[Clinical group],Trigeminal autonomic cephalalgia,,,,,,,,,,, +GARD:20018,Active,Orphanet,ORPHA:157991,Disorder,[Disease],Generalized eruptive histiocytosis,[Generalized eruptive histiocytoma],"A rare non-Langerhans cell histiocytosis characterized by rapid onset of crops of asymptomatic small red to brown papules, typically distributed symmetrically over the face, trunk, and proximal extremities, occasionally with mucous membrane involvement. The lesions resolve spontaneously without scarring after a variable time span and do not recur in most cases. Histopathology reveals diffuse, uniform dermal infiltration with non-xanthomatous histiocytes staining positive for CD68 and Ki-M1p. Multinucleate giant cells may occasionally be found.",,,,,,,,, +GARD:20019,Active,Orphanet,ORPHA:157997,Disorder,[Disease],Benign cephalic histiocytosis,,"A rare non-Langerhans cell histiocytosis characterized by multiple small yellowish-red or brown papules initially erupting predominantly in the head and neck region. The histopathological hallmark of these eventually self-healing lesions is a dermal proliferation of histiocytes with intracytoplasmic comma-shaped bodies, coated vesicles, and desmosome-like structures. Birbeck granules are absent. The disease typically occurs in young children.",,,,,,,,, +GARD:2002,Active,Orphanet,ORPHA:98870,Disorder,[Disease],Congenital dyserythropoietic anemia type III,"[CDA III, CDA type 3, CDA type III, Congenital dyserythropoietic anemia type 3]","Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.",[105600],,,,,Congenital dyserythropoietic anemia type 3,TRUE,FALSE,Active +GARD:20020,Active,Orphanet,ORPHA:158000,Disorder,[Disease],Juvenile xanthogranuloma,,"Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.",,,,,,,,, +GARD:20021,Active,Orphanet,ORPHA:158008,Disorder,[Disease],Papular xanthoma,,"Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.",,,,,,,,, +GARD:20022,Active,Orphanet,ORPHA:158019,Disorder,[Disease],Indeterminate cell histiocytosis,"[Indeterminate dendritic cell neoplasm, Indeterminate dendritic cell tumor]","A rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression).",,,,,,,,, +GARD:20023,Active,Orphanet,ORPHA:158022,Disorder,[Disease],Progressive nodular histiocytosis,,"Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.",,,,,,,,, +GARD:20024,Active,Orphanet,ORPHA:158032,Group of disorders,[Category],Hemophagocytic syndrome,"[HLH, Hemophagocytic lymphohistiocytosis]","Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes).",,,,,,,,, +GARD:20025,Active,Orphanet,ORPHA:158038,Group of disorders,[Clinical group],Primary hemophagocytic lymphohistiocytosis,[Genetic hemophagocytic lymphohistiocytosis],,,,,,,,,, +GARD:20026,Active,Orphanet,ORPHA:158041,Group of disorders,[Category],Secondary hemophagocytic lymphohistiocytosis,"[Acquired hemophagocytic lymphohistiocytosis, Reactive hemophagocytic syndrome]",,,,,,,,,, +GARD:20027,Active,Orphanet,ORPHA:158057,Disorder,[Particular clinical situation in a disease or syndrome],Acquired hemophagocytic lymphohistiocytosis associated with malignant disease,,"A rare, secondary hemophagocytic lymphohistiocytosis characterized by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are lukemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings.",,,,,,,,, +GARD:20028,Active,Orphanet,ORPHA:158124,Group of disorders,[Category],Genetic dementia,,,,,,,,,,, +GARD:20029,Active,Orphanet,ORPHA:158266,Group of disorders,[Clinical group],Huntington disease-like syndrome,[Huntington disease phenocopy syndrome],,,,,,,,,, +GARD:2003,Active,Orphanet,ORPHA:207073,Group of disorders,[Category],Qualitative or quantitative defects of dysferlin,[Dysferlinopathy],,,,,,,Dysferlinopathy,TRUE,FALSE,Active +GARD:20030,Active,Orphanet,ORPHA:158300,Group of disorders,[Category],Rare genetic hematologic disease,,,,,,,,,,, +GARD:20031,Active,Orphanet,ORPHA:158673,Subtype of disorder,[Clinical subtype],"Localized dystrophic epidermolysis bullosa, acral form","[Localized DEB, acral form]","A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement.",,,,,,,,, +GARD:20032,Active,Orphanet,ORPHA:158676,Subtype of disorder,[Clinical subtype],"Localized dystrophic epidermolysis bullosa, nails only","[Localized DEB, nails only]","A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed.",,,,,,,,, +GARD:20033,Active,Orphanet,ORPHA:158766,Subtype of disorder,[Clinical subtype],Typical urticaria pigmentosa,,,,,,,,,,, +GARD:20034,Active,Orphanet,ORPHA:158769,Subtype of disorder,[Clinical subtype],Plaque-form urticaria pigmentosa,,,,,,,,,,, +GARD:20035,Active,Orphanet,ORPHA:158772,Subtype of disorder,[Clinical subtype],Nodular urticaria pigmentosa,,,,,,,,,,, +GARD:20036,Active,Orphanet,ORPHA:158775,Disorder,[Disease],Smoldering systemic mastocytosis,,"A rare, slowly progressive form of systemic mastocytosis (SM) characterized by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions.",,,,,,,,, +GARD:20037,Active,Orphanet,ORPHA:158778,Disorder,[Disease],Isolated bone marrow mastocytosis,,"A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.",,,,,,,,, +GARD:20038,Active,Orphanet,ORPHA:160148,Disorder,[Disease],Cap polyposis,"[Cap inflammatory polyposis, Eroded polypoid hyperplasia, Inflammatory myoglandular polyps, Polypoid prolapsing folds]","A rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.",,,,,,,,, +GARD:20039,Active,Orphanet,ORPHA:162516,Disorder,[Malformation syndrome],Isolated congenital nasal pyriform aperture stenosis,"[Isolated apertura pyriformis stenosis, Isolated nasal pyriform aperture hypoplasia]","A rare otorhinolaryngological malformation characterized by narrowing of the pyriform aperture (i. e. < 8 to 10 mm in a full-term infant) due to an overgrowth of the nasal process of the maxilla, resulting in potentially lethal nasal airway obstruction in the newborn. Depending on the degree of obstruction, clinical signs and symptoms include inspiratory stridor, respiratory distress, cyanosis, sternal retraction, ribcage asymmetry, and feeding difficulties.",,,,,,,,, +GARD:2004,Active,Orphanet,ORPHA:98881,Subtype of disorder,[Clinical subtype],Familial dysfibrinogenemia,,Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.,[616004],,,,,Dysfibrinogenemia,TRUE,FALSE,Active +GARD:20040,Active,Orphanet,ORPHA:162526,Disorder,[Morphological anomaly],Isolated congenital auditory ossicle malformation,[Congenital auditory ossicle malformation without external ear abnormality],"Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non-progressive, conductive hearing loss often associated with speech delay and poor school performance.",,,,,,,,, +GARD:20041,Active,Orphanet,ORPHA:163209,Group of disorders,[Category],Non-syndromic cerebral malformation due to abnormal neuronal migration,[Brain malformation due to abnormal neuronal migration],,,,,,,,,, +GARD:20042,Active,Orphanet,ORPHA:163525,Disorder,[Disease],Subacute cutaneous lupus erythematosus,,"A form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. This disorder is associated with anti-Ro/SSA antibodies and can be drug-induced.",,,,,,,,, +GARD:20043,Active,Orphanet,ORPHA:163531,Group of disorders,[Clinical group],Chronic cutaneous lupus erythematosus,,"A form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.",,,,,,,,, +GARD:20044,Active,Orphanet,ORPHA:163582,Group of disorders,[Category],Rare bacterial infectious disease,,,,,,,,,,, +GARD:20045,Active,Orphanet,ORPHA:163585,Group of disorders,[Category],Rare viral disease,,,,,,,,,,, +GARD:20046,Active,Orphanet,ORPHA:163588,Group of disorders,[Category],Rare parasitic disease,,,,,,,,,,, +GARD:20047,Active,Orphanet,ORPHA:163591,Group of disorders,[Category],Rare mycosis,,,,,,,,,,, +GARD:20048,Active,Orphanet,ORPHA:163631,Group of disorders,[Category],Bile acid synthesis defect with cholestasis and malabsorption,,,,,,,,,,, +GARD:20049,Active,Orphanet,ORPHA:163637,Group of disorders,[Category],"Rare disorder related with pregnancy, childbirth and puerperium",,,,,,,,,,, +GARD:2005,Active,Orphanet,ORPHA:182127,Disorder,[Disease],Extragonadal germinoma,,"Extragonadal germinoma is a rare, malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumor commonly presents with chest pain, dyspnea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumor.",,,,,,Central nervous system germinoma,TRUE,FALSE,Active +GARD:20050,Active,Orphanet,ORPHA:163708,Disorder,[Disease],Cryptogenic late-onset epileptic spasms,[Late-onset infantile spasms],"Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.",,,,,,,,, +GARD:20051,Active,Orphanet,ORPHA:163921,Disorder,[Particular clinical situation in a disease or syndrome],Posttransplant acute limbic encephalitis,[PALE],"Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.",,,,,,,,, +GARD:20052,Active,Orphanet,ORPHA:163931,Disorder,[Disease],Acrodermatitis continua of Hallopeau,,"A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.",,,,,,,,, +GARD:20053,Active,Orphanet,ORPHA:163934,Disorder,[Disease],Atopic keratoconjunctivitis,,"A rare, chronic allergic disease of the cornea and conjunctiva occurring in all age groups, characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.",,,,,,,,, +GARD:20054,Active,Orphanet,ORPHA:163971,Disorder,[Disease],"X-linked intellectual disability, Cilliers type",[X-linked intellectual disability-microcephaly-testicular failure syndrome],"X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).",,,,,,,,, +GARD:20055,Active,Orphanet,ORPHA:164001,Group of disorders,[Category],Rare odontal or periodontal disorder,,,,,,,,,,, +GARD:20056,Active,Orphanet,ORPHA:164004,Group of disorders,[Category],Middle ear anomaly,,,,,,,,,,, +GARD:20057,Active,Orphanet,ORPHA:164726,Disorder,[Disease],Acute myeloid leukemia and myelodysplastic syndromes related to radiation,[AML and myelodysplastic syndromes related to radiation],"A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.",,,,,,,,, +GARD:20058,Active,Orphanet,ORPHA:164823,Group of disorders,[Category],Rare acquired aplastic anemia,,,,,,,,,,, +GARD:20059,Active,Orphanet,ORPHA:165652,Group of disorders,[Category],Rare genetic gastroenterological disease,,,,,,,,,,, +GARD:20060,Active,Orphanet,ORPHA:165655,Group of disorders,[Category],Genetic intestinal disease,,,,,,,,,,, +GARD:20061,Active,Orphanet,ORPHA:165658,Group of disorders,[Category],Genetic gastro-esophageal disease,,,,,,,,,,, +GARD:20062,Active,Orphanet,ORPHA:165661,Group of disorders,[Category],Genetic pancreatic disease,,,,,,,,,,, +GARD:20063,Active,Orphanet,ORPHA:165704,Group of disorders,[Category],Non-syndromic urogenital tract malformation,,,,,,,,,,, +GARD:20064,Active,Orphanet,ORPHA:165707,Group of disorders,[Category],Syndromic urogenital tract malformation,,,,,,,,,,, +GARD:20065,Active,Orphanet,ORPHA:165955,Disorder,[Disease],Wound myiasis,[Traumatic myiasis],"A rare cutaneous myiasis characterized by infestation of open wounds by dipterous fly larvae. Mucous membranes and body cavity openings can also be affected. The condition may be accompanied by fever, pain, and secondary infections and can lead to massive tissue destruction and even death. Predisposing factors for larval infestation are poor hygiene, advanced or very young age, alcoholism, diabetes, and vascular occlusive disease, among others.",,,,,,,,, +GARD:20066,Active,Orphanet,ORPHA:165958,Disorder,[Disease],Cavitary myiasis,,"Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.",,,,,,,,, +GARD:20067,Active,Orphanet,ORPHA:165985,Group of disorders,[Clinical group],Diazoxide-sensitive diffuse hyperinsulinism,"[Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form]",,,,,,,,,, +GARD:20068,Active,Orphanet,ORPHA:165988,Group of disorders,[Clinical group],Diazoxide-resistant diffuse hyperinsulinism,"[Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form]","Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.",,,,,,,,, +GARD:20069,Active,Orphanet,ORPHA:166113,Disorder,[Disease],Bazex syndrome,"[Acrokeratosis of Bazex, Acrokeratosis paraneoplastica, Acrokeratosis paraneoplastica of Bazex]",Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions.,,,,,,,,, +GARD:2007,Active,Orphanet+OMIM,OMIM:305000,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, x-linked",[Zinsser-cole-engman syndrome],"Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by {32:Kirwan and Dokal, 2008}).\n\nHoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by {55:Walne et al., 2013}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[305000],[1775],[Dyskeratosis congenita],[10905],,Dyskeratosis congenita X-linked,TRUE,FALSE,Active +GARD:20070,Active,Orphanet,ORPHA:166286,Disorder,[Disease],Porokeratotic eccrine ostial and dermal duct nevus,"[Comedo nevus of the palm, Porokeratotic eccrine nevus]",,,,,,,,,, +GARD:20071,Active,Orphanet,ORPHA:166295,Group of disorders,[Clinical group],Benign non-familial infantile seizures,,,,,,,,,,, +GARD:20072,Active,Orphanet,ORPHA:166299,Disorder,[Disease],Benign partial epilepsy of infancy with complex partial seizures,,"Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.",,,,,,,,, +GARD:20073,Active,Orphanet,ORPHA:166302,Disorder,[Disease],Benign partial epilepsy with secondarily generalized seizures in infancy,,"Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.",,,,,,,,, +GARD:20074,Active,Orphanet,ORPHA:166305,Disorder,[Disease],Benign infantile seizures associated with mild gastroenteritis,,"Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.",,,,,,,,, +GARD:20075,Active,Orphanet,ORPHA:166308,Disorder,[Disease],Benign infantile focal epilepsy with midline spikes and waves during sleep,[BIMSE],"Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.",,,,,,,,, +GARD:20076,Active,Orphanet,ORPHA:166311,Group of disorders,[Clinical group],Benign partial infantile seizures,,,,,,,,,,, +GARD:20077,Active,Orphanet,ORPHA:166415,Disorder,[Disease],Audiogenic seizures,,"A rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).",,,,,,,,, +GARD:20078,Active,Orphanet,ORPHA:166418,Disorder,[Disease],Eating reflex epilepsy,"[Eating epilepsy, Eating seizures]","A rare reflex epilepsy characterized by in most cases complex partial seizures triggered by different components of eating, such as the sight of food, proprioceptive, olfactory or gustatory sensations, chewing, salivation, and gastric distension after food intake. The seizures may be idiopathic or associated with symptomatic localization-related epilepsies.",,,,,,,,, +GARD:20079,Active,Orphanet,ORPHA:166421,Disorder,[Disease],Orgasm-induced seizures,,"Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.",,,,,,,,, +GARD:2008,Legacy,GARD,,,,,,,,,,,,Dysmorphism abnormal vocalization mental retardation,TRUE,FALSE,Retired +GARD:20080,Active,Orphanet,ORPHA:166424,Disorder,[Disease],Thinking seizures,,"Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g. Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.",,,,,,,,, +GARD:20081,Active,Orphanet,ORPHA:166427,Disorder,[Disease],Startle epilepsy,,"Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.",,,,,,,,, +GARD:20082,Active,Orphanet,ORPHA:166430,Disorder,[Disease],Micturation-induced seizures,,"Micturation-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.",,,,,,,,, +GARD:20083,Active,Orphanet,ORPHA:166463,Group of disorders,[Category],Epilepsy syndrome,,,,,,,,,,, +GARD:20084,Active,Orphanet,ORPHA:166466,Group of disorders,[Category],Neurocutaneous syndrome with epilepsy,,,,,,,,,,, +GARD:20085,Active,Orphanet,ORPHA:166469,Group of disorders,[Category],Chromosomal anomaly with epilepsy as a major feature,,,,,,,,,,, +GARD:20086,Active,Orphanet,ORPHA:166472,Group of disorders,[Category],Monogenic disease with epilepsy,,,,,,,,,,, +GARD:20087,Active,Orphanet,ORPHA:166475,Group of disorders,[Category],Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes,,,,,,,,,,, +GARD:20088,Active,Orphanet,ORPHA:166478,Group of disorders,[Category],Cerebral malformation with epilepsy,,,,,,,,,,, +GARD:20089,Active,Orphanet,ORPHA:166481,Group of disorders,[Category],Metabolic diseases with epilepsy,,,,,,,,,,, +GARD:2009,Active,Orphanet,ORPHA:1779,Disorder,[Malformation syndrome],Dysmorphism-cleft palate-loose skin syndrome,,"Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.",,,,,,Dysmorphism cleft palate loose skin,TRUE,FALSE,Active +GARD:20090,Active,Orphanet,ORPHA:166484,Group of disorders,[Category],Inflammatory and autoimmune disease with epilepsy,,,,,,,,,,, +GARD:20091,Active,Orphanet,ORPHA:166487,Group of disorders,[Category],Cerebral diseases of vascular origin with epilepsy,,,,,,,,,,, +GARD:20092,Active,Orphanet,ORPHA:166490,Group of disorders,[Category],Infectious disease with epilepsy,,,,,,,,,,, +GARD:20093,Active,Orphanet,ORPHA:166775,Group of disorders,[Category],Rare hemorrhagic disorder due to an acquired coagulation factor defect,"[Rare bleeding disorder due to an acquired coagulation factor defect, Rare coagulopathy due to an acquired coagulation factor defect]",,,,,,,,,, +GARD:20094,Active,Orphanet,ORPHA:167759,Group of disorders,[Category],Hereditary dentin defect,,"The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions.",,,,,,,,, +GARD:20095,Active,Orphanet,ORPHA:167762,Group of disorders,[Category],Rare disease with dentinogenesis imperfecta,,,,,,,,,,, +GARD:20096,Active,Orphanet,ORPHA:167848,Group of disorders,[Category],Rare cardiomyopathy,,,,,,,,,,, +GARD:20097,Active,Orphanet,ORPHA:168194,Group of disorders,[Category],Rare cardiac tumor,,,,,,,,,,, +GARD:20098,Active,Orphanet,ORPHA:168621,Disorder,[Disease],"Dysplasia of head of femur, Meyer type","[Dysplasia epiphysealis capitis femoris, Meyer dysplasia]","Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.",,,,,,,,, +GARD:20099,Active,Orphanet,ORPHA:168778,Group of disorders,[Category],Rare pervasive developmental disorder,"[Rare ASD, Rare PDD, Rare autism spectrum disorder]",,,,,,,,,, +GARD:201,Active,Orphanet,ORPHA:1253,Disorder,[Malformation syndrome],Ascher syndrome,[Blepharochalasis-double lip syndrome],"A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.",[109900],,,,,Ascher Syndrome,TRUE,FALSE,Active +GARD:20100,Active,Orphanet,ORPHA:168803,Group of disorders,[Category],Primary peritoneal tumor,,,,,,,,,,, +GARD:20101,Active,Orphanet,ORPHA:168807,Group of disorders,[Category],Primary malignant peritoneal tumor,,,,,,,,,,, +GARD:20102,Active,Orphanet,ORPHA:168811,Disorder,[Disease],Malignant peritoneal mesothelioma,"[Diffuse malignant peritoneal mesothelioma, Primary malignant peritoneal mesothelioma]",Malignant peritoneal mesothelioma is a primary peritoneal malignancy occurring in the lining cells (mesothelium) of the peritoneal cavity.,,,,,,,,, +GARD:20103,Active,Orphanet,ORPHA:168829,Disorder,[Disease],Primary peritoneal carcinoma,"[EOPPC, Extra-ovarian primary peritoneal carcinoma, PPC, Primary peritoneal serous carcinoma, Serous surface papillary carcinoma]","Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma (see this term).",,,,,,,,, +GARD:20104,Active,Orphanet,ORPHA:168940,Disorder,[Disease],Chronic eosinophilic leukemia,,"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common.",,,,,,,,, +GARD:20105,Active,Orphanet,ORPHA:168943,Group of disorders,[Category],"Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2",,,,,,,,,,, +GARD:20106,Active,Orphanet,ORPHA:168947,Disorder,[Disease],Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement,,"A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.",,,,,,,,, +GARD:20107,Active,Orphanet,ORPHA:168950,Disorder,[Disease],Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement,,"A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.",,,,,,,,, +GARD:20108,Active,Orphanet,ORPHA:168960,Disorder,[Disease],Refractory anemia with excess blasts in transformation,[RAEB-t],"A rare hematologic disease characterized by the presence of 20-29% blasts in the bone marrow, presence of 5-29% blasts in the peripheral blood, and/or presence of Auer rods. Patients show relatively stable peripheral blood counts for weeks or months, with specific cytogenetic and molecular genetic characteristics constituting important prognostic factors.",,,,,,,,, +GARD:20109,Active,Orphanet,ORPHA:168966,Disorder,[Disease],Composite lymphoma,[Composite Hodgkin and non-Hodgkin lymphoma],"A rare lymphoma characterized by the concurrent occurrence of two or more histologic types of lymphoma involving the same anatomic site. Composite lymphomas can be combinations of two non-Hodgkin lymphomas or of a non-Hodgkin and a Hodgkin lymphoma. In many cases, the tumors are clonally related. Clinical presentation and treatment are determined by the more aggressive component.",,,,,,,,, +GARD:20110,Active,Orphanet,ORPHA:168999,Disorder,[Disease],Malignant melanoma of the mucosa,,"A rare, aggressive, neoplastic disease characterized by the presence of a melanocyte tumor that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence.",,,,,,,,, +GARD:20111,Active,Orphanet,ORPHA:169110,Disorder,[Disease],Immunoglobulin heavy chain deficiency,,,,,,,,,,, +GARD:20112,Active,Orphanet,ORPHA:169139,Disorder,[Disease],Transient hypogammaglobulinemia of infancy,,"A rare primary immunodeficiency characterized by a delay in the maturation of immunoglobulin production, leading to prolongation of the physiologic hypogammaglobulinemia of the newborn period beyond six months of age. Patients present recurrent respiratory infections, otitis media, bronchitis, gastroenteritis, or allergic symptoms in the first two to four years of life, before the condition resolves spontaneously. Some children may remain asymptomatic, and severe or life-threatening infections are rare. The capacity to synthesize specific antibodies in response to vaccines is usually normal.",,,,,,,,, +GARD:20113,Active,Orphanet,ORPHA:169163,Group of disorders,[Category],Familial scaphocephaly syndrome,,,,,,,,,,, +GARD:20114,Active,Orphanet,ORPHA:169346,Group of disorders,[Category],DNA repair defect other than combined T-cell and B-cell immunodeficiencies,,,,,,,,,,, +GARD:20115,Active,Orphanet,ORPHA:169349,Group of disorders,[Clinical group],Immuno-osseous dysplasia,,,,,,,,,,, +GARD:20116,Active,Orphanet,ORPHA:169355,Group of disorders,[Category],Immunodeficiency syndrome with autoimmunity,,,,,,,,,,, +GARD:20117,Active,Orphanet,ORPHA:169361,Group of disorders,[Category],Immune dysregulation disease with immunodeficiency,,,,,,,,,,, +GARD:20118,Active,Orphanet,ORPHA:169443,Group of disorders,[Category],Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells,,,,,,,,,,, +GARD:20119,Active,Orphanet,ORPHA:169615,Subtype of disorder,[Etiological subtype],Idiopathic central precocious puberty,,,,,,,,,,, +GARD:2012,Active,Orphanet,ORPHA:1782,Disorder,[Malformation syndrome],Dysosteosclerosis,,A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly.,[224300],,,,,Dysosteosclerosis,TRUE,FALSE,Active +GARD:20120,Active,Orphanet,ORPHA:169618,Subtype of disorder,[Etiological subtype],Secondary central precocious puberty,,,,,,,,,,, +GARD:20121,Active,Orphanet,ORPHA:169826,Group of disorders,[Category],Congenital vitamin K-dependent coagulation factors deficiency,,,,,,,,,,, +GARD:20122,Active,Orphanet,ORPHA:171220,Disorder,[Morphological anomaly],Rectal duplication,,"A rare, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.",,,,,,,,, +GARD:20123,Active,Orphanet,ORPHA:171673,Disorder,[Disease],Limbal stem cell deficiency,,"A rare corneal disorder characterized by dysfunction and/or insufficient quantity of corneal limbal stem cells, leading to impaired self-renewal of the corneal epithelium and resulting in epithelial breakdown, corneal conjunctivalization and neovascularization, chronic inflammation, persistent epithelial defects, and scarring. Patients usually present with ocular redness, decreased vision, photophobia, foreign body sensation, tearing, and pain. The condition may be genetic, idiopathic, or acquired (in the context of inflammation, infection, trauma, or ocular surface tumors).",,,,,,,,, +GARD:20124,Active,Orphanet,ORPHA:171684,Disorder,[Disease],Idiopathic bilateral vestibulopathy,,"Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth cranial nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.",,,,,,,,, +GARD:20125,Active,Orphanet,ORPHA:171703,Disorder,[Malformation syndrome],Microcephaly-polymicrogyria-corpus callosum agenesis syndrome,,"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.",,,,,,,,, +GARD:20126,Active,Orphanet,ORPHA:171829,Disorder,[Disease],6q16 microdeletion syndrome,"[Del(6)(q16), Monosomy 6q16, Prader-Willi-like syndrome due to microdeletion 6q16]","A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.",,,,,,,,, +GARD:20127,Active,Orphanet,ORPHA:171839,Disorder,[Malformation syndrome],Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome,"[Berant syndrome, Capra-DeMarco syndrome, Familial scaphocephaly-radioulnar synostosis syndrome]","A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.",,,,,,,,, +GARD:20128,Active,Orphanet,ORPHA:171860,Disorder,[Disease],Intellectual disability-cataracts-kyphosis syndrome,,"This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.",,,,,,,,, +GARD:20129,Active,Orphanet,ORPHA:171889,Disorder,[Disease],Myopathy with hexagonally cross-linked tubular arrays,,"Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.",,,,,,,,, +GARD:2013,Active,Orphanet+OMIM,OMIM:180700,Subtype of disorder,[Clinical subtype],"Robinow syndrome, autosomal dominant 1","[acral dysostosis with facial and genital abnormalities, fetal face syndrome, Robinow dwarfism]","Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by {21:Roifman et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Robinow syndrome, see RRS ({268310}).",[180700],[3107],[Autosomal dominant Robinow syndrome],[16620],,Dysostosis acral with facial and genital abnormalities,TRUE,FALSE,Retired +GARD:20130,Active,Orphanet,ORPHA:171895,Group of disorders,[Category],Myeloid hemopathy,,,,,,,,,,, +GARD:20131,Active,Orphanet,ORPHA:171898,Group of disorders,[Category],Lymphoid hemopathy,,,,,,,,,,, +GARD:20132,Active,Orphanet,ORPHA:171915,Group of disorders,[Category],B-cell non-Hodgkin lymphoma,[B-cell NHL],,,,,,,,,, +GARD:20133,Active,Orphanet,ORPHA:171918,Group of disorders,[Category],T-cell non-Hodgkin lymphoma,[T-cell NHL],,,,,,,,,, +GARD:20134,Active,Orphanet,ORPHA:172976,Group of disorders,[Clinical group],Congenital myopathy with cores,,,,,,,,,,, +GARD:20135,Active,Orphanet,ORPHA:174590,Group of disorders,[Category],Congenital hypogonadotropic hypogonadism,,,,,,,,,,, +GARD:20136,Active,Orphanet,ORPHA:177101,Group of disorders,[Category],Rare adult hypothyroidism,,,,,,,,,,, +GARD:20137,Active,Orphanet,ORPHA:177107,Group of disorders,[Category],Syndromic hypothyroidism,,,,,,,,,,, +GARD:20138,Active,Orphanet,ORPHA:177901,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,,,,,,,,,,, +GARD:20139,Active,Orphanet,ORPHA:177904,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,,,,,,,,,,, +GARD:20140,Active,Orphanet,ORPHA:178025,Group of disorders,[Category],Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations,,,,,,,,,,, +GARD:20141,Active,Orphanet,ORPHA:178040,Group of disorders,[Category],Rare peripheral precocious puberty,,,,,,,,,,, +GARD:20142,Active,Orphanet,ORPHA:178045,Group of disorders,[Clinical group],Transient congenital hypothyroidism,,,,,,,,,,, +GARD:20143,Active,Orphanet,ORPHA:178148,Subtype of disorder,[Clinical subtype],Antenatal multiminicore disease with arthrogryposis multiplex congenita,,,,,,,,,,, +GARD:20144,Active,Orphanet,ORPHA:178311,Disorder,[Disease],Isolated sternocostoclavicular hyperostosis,[Isolated SCCH],"Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.",,,,,,,,, +GARD:20145,Active,Orphanet,ORPHA:178315,Disorder,[Disease],Undifferentiated embryonal sarcoma of the liver,"[Embryonal sarcoma of the liver, UES, Undifferentiated sarcoma of the liver]","Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.",,,,,,,,, +GARD:20146,Active,Orphanet,ORPHA:178320,Disorder,[Particular clinical situation in a disease or syndrome],Acute lung injury,,,,,,,,,,, +GARD:20147,Active,Orphanet,ORPHA:178377,Disorder,[Malformation syndrome],Osteosclerosis-developmental delay-craniosynostosis syndrome,,"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).",,,,,,,,, +GARD:20148,Active,Orphanet,ORPHA:178396,Disorder,[Disease],Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,,"A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.",,,,,,,,, +GARD:20149,Active,Orphanet,ORPHA:178475,Subtype of disorder,[Etiological subtype],Wound botulism,"[Cutaneous infectious botulism, Cutaneous toxin-mediated botulism, Inoculation botulism, Skin infectious botulism, Skin toxin-mediated botulism]","Wound botulism is a rare infectious form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs), produced after infection of wounds by Clostridium botulinum.",,,,,,,,, +GARD:2015,Active,Orphanet,ORPHA:1795,Disorder,[Malformation syndrome],Peripheral dysostosis,,"Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.",[170700],,,,,Dysostosis peripheral,TRUE,FALSE,Active +GARD:20150,Active,Orphanet,ORPHA:178478,Subtype of disorder,[Clinical subtype],Infant botulism,"[Infant intestinal botulism, Infant intestinal toxemia botulism, Infant intestinal toxin-mediated botulism, Infantile botulism]","A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). It is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.",,,,,,,,, +GARD:20151,Active,Orphanet,ORPHA:178481,Subtype of disorder,[Clinical subtype],Intestinal botulism,"[Intestinal colonization botulism, Intestinal toxemia botulism, Intestinal toxin-mediated botulism]","A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).",,,,,,,,, +GARD:20152,Active,Orphanet,ORPHA:178487,Subtype of disorder,[Clinical subtype],Adult intestinal botulism,"[Adult intestinal colonization botulism, Adult intestinal toxemia botulism, Adult intestinal toxin-mediated botulism, Infant-like botulism]","A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.",,,,,,,,, +GARD:20153,Active,Orphanet,ORPHA:178493,Disorder,[Disease],Myopic macular degeneration,[Myopic maculopathy],"A rare, genetic macular disorder characterised by severe near-sightedness resulting from continual elongation of the eyeball. As the eyeball stretches the sclera and retina thin and the macula can tear, causing bleeding beneath the retina. It is a major cause of irreversible vision loss.",,,,,,,,, +GARD:20154,Active,Orphanet,ORPHA:178512,Disorder,[Disease],Folliculotropic mycosis fungoides,[Mycosis fungoides-associated follicular mucinosis],"A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.",,,,,,,,, +GARD:20155,Active,Orphanet,ORPHA:178517,Disorder,[Disease],Localized pagetoid reticulosis,"[Pagetoid reticulosis, Woringer-Kolopp type]","A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of localized patches or plaques with epidermal hyperplasia and intraepidermal proliferation of neoplastic T-cells, usually involving one extremity.",,,,,,,,, +GARD:20156,Active,Orphanet,ORPHA:178522,Disorder,[Disease],Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma,,"A rare, primary cutaneous T-cell lymphoma characterized by solitary cutaneous nodule or only regional disease, typically occurring on the head and neck, and involving entire dermis. Sometimes, subcutis and adnexal structures are involved, as well. The infiltrate is nodular or diffuse, composed of small to medium sized pleomorphic lymphocytes and showing mild to moderate cytologic atypia. Neoplastic T-cells are mixed with B-cells, histiocytes, plasma cells and eosinophils.",,,,,,,,, +GARD:20157,Active,Orphanet,ORPHA:178528,Disorder,[Disease],Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma,"[Berti lymphoma, Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma]","Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.",,,,,,,,, +GARD:20158,Active,Orphanet,ORPHA:178533,Disorder,[Disease],Primary cutaneous gamma/delta-positive T-cell lymphoma,,"Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.",,,,,,,,, +GARD:20159,Active,Orphanet,ORPHA:178536,Disorder,[Disease],Primary cutaneous marginal zone B-cell lymphoma,[PCMZL],"A rare, indolent primary cutaneous B-cell lymphoma characterized by multifocal, red to violaceous papules, plaques or nodules localized predominantly on the trunk and extremities. Histologically, these are dermis infiltrates consisting of small, marginal zone B cells, lymphoplasmacytic cells, and plasma cells. Marginal zone B cells express CD20, CD79a and Bcl-2, and are negative for CD5, CD10 and Bcl-6. Plasma cells are typically located at the periphery, and express CD138, CD79a, and monotypic light chains.",,,,,,,,, +GARD:2016,Active,Orphanet,ORPHA:1798,Disorder,[Malformation syndrome],"Dysostosis, Stanescu type","[Autosomal dominant osteosclerosis, Stanescu type, Craniofacial dysostosis-diaphyseal hyperplasia syndrome, Stanescu osteosclerosis]",Stanescu type dysostosis is a rare form of osteosclerosis.,[122900],,,,,Craniofacial dysostosis with diaphyseal hyperplasia,TRUE,FALSE,Active +GARD:20160,Active,Orphanet,ORPHA:178544,Disorder,[Disease],"Primary cutaneous diffuse large B-cell lymphoma, leg type","[PCDLBCL,LT]","A rare, aggressive, primary cutaneous B-cell lymphoma characterized by rapidly progressive, red to bluish, often ulcerating, nodular tumors predominantly involving the lower legs. Histology shows sheets of centroblasts and immunoblasts that spare the epidermis, but infiltrate the dermis and subcutaneous tissues, and often disseminate extracutaneously. The neoplastic cells typically express CD20, CD79a, Bcl-2, MUM-1, and FOXP1, but are negative for CD10.",,,,,,,,, +GARD:20161,Active,Orphanet,ORPHA:178548,Group of disorders,[Clinical group],Indolent primary cutaneous T-cell lymphoma,,,,,,,,,,, +GARD:20162,Active,Orphanet,ORPHA:178551,Group of disorders,[Clinical group],Aggressive primary cutaneous T-cell lymphoma,,,,,,,,,,, +GARD:20163,Active,Orphanet,ORPHA:178554,Group of disorders,[Clinical group],Aggressive primary cutaneous B-cell lymphoma,,,,,,,,,,, +GARD:20164,Active,Orphanet,ORPHA:178557,Group of disorders,[Clinical group],Indolent primary cutaneous B-cell lymphoma,,,,,,,,,,, +GARD:20165,Active,Orphanet,ORPHA:178563,Group of disorders,[Category],Primary cutaneous B-cell lymphoma,,,,,,,,,,, +GARD:20166,Active,Orphanet,ORPHA:178566,Group of disorders,[Clinical group],Mycosis fungoides and variants,,"A group of disorders including the most common forms of cutaneous T-cell lymphomas. The term Mycosis fungoides (MF) is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.",,,,,,,,, +GARD:20167,Active,Orphanet,ORPHA:178996,Group of disorders,[Category],Acquired neutropenia,[Immunologic neutropenia],,,,,,,,,, +GARD:20168,Active,Orphanet,ORPHA:179006,Group of disorders,[Category],Primary immunodeficiency due to a defect in adaptive immunity,,,,,,,,,,, +GARD:20169,Active,Orphanet,ORPHA:179490,Subtype of disorder,[Etiological subtype],Obesity due to congenital leptin resistance,,,,,,,,,,, +GARD:20170,Active,Orphanet,ORPHA:180062,Group of disorders,[Category],Uterovaginal malformation,,,,,,,,,,, +GARD:20171,Active,Orphanet,ORPHA:180065,Group of disorders,[Category],Non-syndromic uterovaginal malformation,,,,,,,,,,, +GARD:20172,Active,Orphanet,ORPHA:180068,Group of disorders,[Clinical group],Partial bilateral aplasia of the Müllerian ducts,[Incomplete bilateral aplasia of the Müllerian ducts],,,,,,,,,, +GARD:20173,Active,Orphanet,ORPHA:180071,Group of disorders,[Clinical group],Unilateral aplasia of the Müllerian ducts,[Unicornuate uterus],,,,,,,,,, +GARD:20174,Active,Orphanet,ORPHA:180074,Disorder,[Morphological anomaly],True unicornuate uterus,"[Complete unilateral Müllerian aplasia, Complete unilateral aplasia of the Müllerian ducts, Unicornuate uterus without rudimentary horn]","A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.",,,,,,,,, +GARD:20175,Active,Orphanet,ORPHA:180079,Disorder,[Morphological anomaly],Pseudounicornuate uterus,"[Incomplete unilateral Müllerian aplasia, Incomplete unilateral aplasia of the Müllerian ducts, Unicornuate uterus with rudimentary horn]","A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.",,,,,,,,, +GARD:20176,Active,Orphanet,ORPHA:180086,Disorder,[Morphological anomaly],Didelphys uterus,[Bicervical bicornuate uterus],"A rare non-syndromic uterovaginal malformation characterized by two separate uterine cavities and cervices, due to failure of the Müllerian ducts to fuse. A longitudinal vaginal septum of variable thickness and elasticity is also present. Patients may be asymptomatic or experience dyspareunia or dysmenorrhea. There is increased frequency of endometriosis, as well as fertility and gestational issues with significantly reduced chances of seeing a pregnancy to term. The condition may be associated with renal agenesis.",,,,,,,,, +GARD:20177,Active,Orphanet,ORPHA:180106,Subtype of disorder,[Clinical subtype],Bicervical bicornuate uterus and blind hemivagina,,,,,,,,,,, +GARD:20178,Active,Orphanet,ORPHA:180111,Subtype of disorder,[Clinical subtype],Bicervical bicornuate uterus with patent cervix and vagina,,,,,,,,,,, +GARD:20179,Active,Orphanet,ORPHA:180114,Disorder,[Morphological anomaly],Unicervical bicornuate uterus,,,,,,,,,,, +GARD:20180,Active,Orphanet,ORPHA:180122,Group of disorders,[Clinical group],Septate uterus,,,,,,,,,,, +GARD:20181,Active,Orphanet,ORPHA:180126,Disorder,[Morphological anomaly],Complete septate uterus,[Total septate uterus],"Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.",,,,,,,,, +GARD:20182,Active,Orphanet,ORPHA:180129,Disorder,[Morphological anomaly],Partial septate uterus,"[Subtotal septate uterus, Uterus subseptus]","Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.",,,,,,,,, +GARD:20183,Active,Orphanet,ORPHA:180134,Group of disorders,[Clinical group],Bicornuate uterus,,,,,,,,,,, +GARD:20184,Active,Orphanet,ORPHA:180139,Disorder,[Morphological anomaly],Uterine hypoplasia,,"A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, and infertility.",,,,,,,,, +GARD:20185,Active,Orphanet,ORPHA:180142,Disorder,[Morphological anomaly],Absence of uterine body,,"A rare, non-syndromic, uterovaginal malformation characterized by underdevelopment of the uterus, ranging from complete absence to the presence of bilateral rudimentary horns with or without a cavity. Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility.",,,,,,,,, +GARD:20186,Active,Orphanet,ORPHA:180145,Disorder,[Morphological anomaly],Uterine cervical aplasia and agenesis,,"A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems.",,,,,,,,, +GARD:20187,Active,Orphanet,ORPHA:180148,Group of disorders,[Category],Syndromic uterovaginal malformation,,,,,,,,,,, +GARD:20188,Active,Orphanet,ORPHA:180151,Group of disorders,[Category],Rare vaginal malformation,,,,,,,,,,, +GARD:20189,Active,Orphanet,ORPHA:180154,Disorder,[Morphological anomaly],Septate vagina,,A rare vaginal malformation characterized by the presence of a complete or incomplete longitudinal or transverse septum in the vagina due to disrupted fusion or canalization of the solid vaginal plate during embryogenesis. Signs and symptoms depend on the type of septum.,,,,,,,,, +GARD:2019,Active,Orphanet,ORPHA:1822,Disorder,[Malformation syndrome],Dysplasia epiphysealis hemimelica,[Trevor disease],"A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint.",[127800],,,,,Dysplasia epiphysealis hemimelica,TRUE,FALSE,Active +GARD:20190,Active,Orphanet,ORPHA:180157,Subtype of disorder,[Clinical subtype],Longitudinal vaginal septum,,"A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities.",,,,,,,,, +GARD:20191,Active,Orphanet,ORPHA:180160,Subtype of disorder,[Clinical subtype],Transverse vaginal septum,,"A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea.",,,,,,,,, +GARD:20192,Active,Orphanet,ORPHA:180163,Group of disorders,[Category],Rare breast malformation,,,,,,,,,,, +GARD:20193,Active,Orphanet,ORPHA:180170,Group of disorders,[Category],Excess breast volume or number,,,,,,,,,,, +GARD:20194,Active,Orphanet,ORPHA:180173,Group of disorders,[Category],Deficient breast volume or number,,,,,,,,,,, +GARD:20195,Active,Orphanet,ORPHA:180182,Disorder,[Morphological anomaly],Supernumerary breasts,"[Accessory breasts, Polymastia]","A rare breast malformation characterized by the presence of accessory breasts with a complete ductal system, areola, and nipple in addition to two normal breasts. The accessory breast tissue mostly lies along the milk lines. It is often not recognized until puberty, when it begins to respond to regular hormonal fluctuations, and may develop the same changes as normal breasts throughout life.",,,,,,,,, +GARD:20196,Active,Orphanet,ORPHA:180193,Group of disorders,[Category],Syndromic breast hypoplasia/aplasia,,,,,,,,,,, +GARD:20197,Active,Orphanet,ORPHA:180199,Group of disorders,[Category],Rare non-malformative gynecologic or obstetric disease,,,,,,,,,,, +GARD:20198,Active,Orphanet,ORPHA:180202,Group of disorders,[Category],Rare non-malformative breast disease,,,,,,,,,,, +GARD:20199,Active,Orphanet,ORPHA:180205,Group of disorders,[Category],Rare non-malformative uterovaginal or vulvovaginal disease,,,,,,,,,,, +GARD:202,Legacy,GARD,,,,,,,,,,,,Maxillary double lip,TRUE,FALSE,Retired +GARD:20200,Active,Orphanet,ORPHA:180208,Group of disorders,[Category],Anomaly of puberty or/and menstrual cycle,,,,,,,,,,, +GARD:20201,Active,Orphanet,ORPHA:180220,Group of disorders,[Category],Rare uterine adnexal tumor,,,,,,,,,,, +GARD:20202,Active,Orphanet,ORPHA:180234,Disorder,[Disease],Mixed germ cell tumor,,"A rare germ cell tumor characterized by composition of two or more malignant germ cell components, the most common combination being dysgerminoma and yolk sac tumor. The tumors typically occur between childhood and young adulthood. They are usually located in the gonads, occasionally also in other regions. Clinical presentation corresponds to the individual germ cell components and the tumor location; manifestations may include abdominal pain, abdominal mass, and menstrual disorder in females, and a testicular mass in males. The most important prognostic factor is tumor stage.",,,,,,,,, +GARD:20203,Active,Orphanet,ORPHA:180237,Disorder,[Disease],Benign tumor of fallopian tubes,,A group of rare uterine adnexal tumors comprising non-metastasizing neoplasms arising from the fallopian tube. This includes epithelial tumors (benign serous tumors such as serous adenofibroma and papilloma) and mature teratomas. Patients may be asymptomatic or present with tubal obstruction.,,,,,,,,, +GARD:20204,Active,Orphanet,ORPHA:180242,Disorder,[Disease],Malignant tumor of fallopian tubes,"[Cancer of fallopian tubes, Malignant tubal tumor, Tubal cancer]",,,,,,,,,, +GARD:20205,Active,Orphanet,ORPHA:180250,Group of disorders,[Category],Rare breast tumor,,,,,,,,,,, +GARD:20206,Active,Orphanet,ORPHA:180267,Disorder,[Disease],Giant adenofibroma of the breast,,"Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.",,,,,,,,, +GARD:20207,Active,Orphanet,ORPHA:180303,Group of disorders,[Category],Rare non-malformative uterine adnexal disease,,,,,,,,,,, +GARD:20208,Active,Orphanet,ORPHA:180312,Group of disorders,[Category],Rare vulvovaginal tumor,,,,,,,,,,, +GARD:20209,Active,Orphanet,ORPHA:180766,Group of disorders,[Category],Malformative syndrome with dentinogenesis imperfecta,,,,,,,,,,, +GARD:20211,Active,Orphanet,ORPHA:180776,Group of disorders,[Category],Non-syndromic diaphragmatic or thoracic malformation,,,,,,,,,,, +GARD:20212,Active,Orphanet,ORPHA:180779,Group of disorders,[Category],Syndromic diaphragmatic or thoracic malformation,,,,,,,,,,, +GARD:20213,Active,Orphanet,ORPHA:180821,Group of disorders,[Category],Rare gastroesophageal tumor,,,,,,,,,,, +GARD:20214,Active,Orphanet,ORPHA:181368,Group of disorders,[Category],Rare insulin-resistance syndrome,,,,,,,,,,, +GARD:20215,Active,Orphanet,ORPHA:181371,Group of disorders,[Category],Rare diabetes mellitus type 1,[Rare insulin-dependent diabetes mellitus],,,,,,,,,, +GARD:20216,Active,Orphanet,ORPHA:181376,Group of disorders,[Category],Rare diabetes mellitus type 2,[Rare insulin-independent diabetes mellitus],,,,,,,,,, +GARD:20217,Active,Orphanet,ORPHA:181381,Group of disorders,[Category],Other rare diabetes mellitus,,,,,,,,,,, +GARD:20218,Active,Orphanet,ORPHA:181384,Group of disorders,[Category],Rare hypothalamic or pituitary disease,,,,,,,,,,, +GARD:20219,Active,Orphanet,ORPHA:181387,Group of disorders,[Category],Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism,,,,,,,,,,, +GARD:2022,Active,Orphanet,ORPHA:2204,Disorder,[Malformation syndrome],Dysplastic cortical hyperostosis,[Kozlowski-Tsuruta syndrome],"Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.",,,,,,Dysplastic cortical hyperostosis,TRUE,FALSE,Active +GARD:20220,Active,Orphanet,ORPHA:181390,Group of disorders,[Category],Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature,,,,,,,,,,, +GARD:20221,Active,Orphanet,ORPHA:181396,Group of disorders,[Category],Rare hypothyroidism,,,,,,,,,,, +GARD:20222,Active,Orphanet,ORPHA:181399,Group of disorders,[Category],Rare hyperthyroidism,,,,,,,,,,, +GARD:20223,Active,Orphanet,ORPHA:181402,Group of disorders,[Category],Syndrome with hypoparathyroidism,,,,,,,,,,, +GARD:20224,Active,Orphanet,ORPHA:181405,Group of disorders,[Category],Rare hypoparathyroidism,,,,,,,,,,, +GARD:20225,Active,Orphanet,ORPHA:181408,Group of disorders,[Category],Rare hyperparathyroidism,,,,,,,,,,, +GARD:20226,Active,Orphanet,ORPHA:181412,Group of disorders,[Category],Adrenogenital syndrome,,,,,,,,,,, +GARD:20227,Active,Orphanet,ORPHA:181415,Group of disorders,[Category],Rare primary hyperaldosteronism,[Rare primary aldosteronism],,,,,,,,,, +GARD:20228,Active,Orphanet,ORPHA:181419,Group of disorders,[Category],Rare hypoaldosteronism,,,,,,,,,,, +GARD:20229,Active,Orphanet,ORPHA:181422,Group of disorders,[Category],Rare hyperlipidemia,,,,,,,,,,, +GARD:20230,Active,Orphanet,ORPHA:181428,Group of disorders,[Clinical group],Hyperalphalipoproteinemia,,,,,,,,,,, +GARD:20231,Active,Orphanet,ORPHA:181431,Group of disorders,[Category],Rare hypolipidemia,,,,,,,,,,, +GARD:20232,Active,Orphanet,ORPHA:181437,Group of disorders,[Category],Rare syndromic dyslipidemia,,,,,,,,,,, +GARD:20233,Active,Orphanet,ORPHA:181441,Group of disorders,[Category],Rare disorder with hypergonadotropic hypogonadism,[Rare disorder with primary hypogonadism],,,,,,,,,, +GARD:20234,Active,Orphanet,ORPHA:182040,Group of disorders,[Category],Aplastic anemia,,,,,,,,,,, +GARD:20235,Active,Orphanet,ORPHA:182043,Group of disorders,[Category],Rare constitutional hemolytic anemia,,,,,,,,,,, +GARD:20236,Active,Orphanet,ORPHA:182047,Group of disorders,[Category],Rare acquired hemolytic anemia,,,,,,,,,,, +GARD:20237,Active,Orphanet,ORPHA:182054,Group of disorders,[Category],Rare thrombotic disease of hematologic origin,,,,,,,,,,, +GARD:20238,Active,Orphanet,ORPHA:182061,Group of disorders,[Category],Cerebellar malformation,,,,,,,,,,, +GARD:20239,Active,Orphanet,ORPHA:182064,Group of disorders,[Category],Rare neuroinflammatory or neuroimmunological disease,,,,,,,,,,, +GARD:20240,Active,Orphanet,ORPHA:182070,Group of disorders,[Category],Rare neurodegenerative disease,,,,,,,,,,, +GARD:20241,Active,Orphanet,ORPHA:182079,Group of disorders,[Clinical group],ARX-related epileptic encephalopathy,,,,,,,,,,, +GARD:20242,Active,Orphanet,ORPHA:182083,Group of disorders,[Category],Channelopathy with epilepsy,,,,,,,,,,, +GARD:20243,Active,Orphanet,ORPHA:182086,Group of disorders,[Category],Acquired peripheral neuropathy,,,,,,,,,,, +GARD:20244,Active,Orphanet,ORPHA:182095,Group of disorders,[Category],Interstitial lung disease,[ILD],,,,,,,,,, +GARD:20245,Active,Orphanet,ORPHA:182098,Group of disorders,[Clinical group],Pneumoconiosis,,,,,,,,,,, +GARD:20246,Active,Orphanet,ORPHA:182101,Group of disorders,[Clinical group],Idiopathic eosinophilic pneumonia,,,,,,,,,,, +GARD:20247,Active,Orphanet,ORPHA:182104,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease,"[CTD-ILD, Secondary ILD in childhood and adulthood associated with a connective tissue disease]",,,,,,,,,, +GARD:20248,Active,Orphanet,ORPHA:182108,Group of disorders,[Category],Thoracic malformation,,,,,,,,,,, +GARD:20249,Active,Orphanet,ORPHA:182111,Group of disorders,[Category],Respiratory malformation,,,,,,,,,,, +GARD:2025,Legacy,GARD,,,,,,,,,,,,Dyssegmental dysplasia and glaucoma,TRUE,FALSE,Active +GARD:20250,Active,Orphanet,ORPHA:182114,Group of disorders,[Category],Rare urogenital tumor,,,,,,,,,,, +GARD:20251,Active,Orphanet,ORPHA:182117,Group of disorders,[Category],Non-syndromic urogenital tract malformation of female,,,,,,,,,,, +GARD:20252,Active,Orphanet,ORPHA:182121,Group of disorders,[Category],Non-syndromic urogenital tract malformation of male,,,,,,,,,,, +GARD:20253,Active,Orphanet,ORPHA:182124,Group of disorders,[Category],Non-syndromic urogenital tract malformation of male and female,,,,,,,,,,, +GARD:20254,Active,Orphanet,ORPHA:182130,Group of disorders,[Category],Tumor of endocrine glands,,,,,,,,,,, +GARD:20255,Active,Orphanet,ORPHA:182222,Group of disorders,[Category],Rare systemic disease,,,,,,,,,,, +GARD:20256,Active,Orphanet,ORPHA:182228,Group of disorders,[Category],Systemic autoimmune disease,,,,,,,,,,, +GARD:20257,Active,Orphanet,ORPHA:182231,Group of disorders,[Category],Rare rheumatologic disease,,,,,,,,,,, +GARD:20258,Active,Orphanet,ORPHA:182734,Group of disorders,[Clinical group],Genetic urticaria,,,,,,,,,,, +GARD:20259,Active,Orphanet,ORPHA:183422,Group of disorders,[Category],Polymalformative genetic syndrome with increased risk of developing cancer,,Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.,,,,,,,,, +GARD:2026,Active,Orphanet,ORPHA:1865,Disorder,[Disease],"Dyssegmental dysplasia, Silverman-Handmaker type",,"Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.",[224410],,,,,Dyssegmental dysplasia Silverman-Handmaker type,TRUE,FALSE,Active +GARD:20260,Active,Orphanet,ORPHA:183426,Group of disorders,[Category],Genetic epidermal disorder,,,,,,,,,,, +GARD:20261,Active,Orphanet,ORPHA:183435,Group of disorders,[Category],Inherited ichthyosis,[Genetic ichthyosis],,,,,,,,,, +GARD:20262,Active,Orphanet,ORPHA:183438,Group of disorders,[Category],Genetic erythrokeratoderma,,,,,,,,,,, +GARD:20263,Active,Orphanet,ORPHA:183441,Group of disorders,[Category],Genetic acrokeratoderma,,,,,,,,,,, +GARD:20264,Active,Orphanet,ORPHA:183444,Group of disorders,[Category],Genetic porokeratosis,,,,,,,,,,, +GARD:20265,Active,Orphanet,ORPHA:183447,Group of disorders,[Category],Genetic epidermal appendage anomaly,,,,,,,,,,, +GARD:20266,Active,Orphanet,ORPHA:183450,Group of disorders,[Category],Genetic hair anomaly,,,,,,,,,,, +GARD:20267,Active,Orphanet,ORPHA:183454,Group of disorders,[Category],Genetic nail anomaly,,,,,,,,,,, +GARD:20268,Active,Orphanet,ORPHA:183460,Group of disorders,[Category],Genetic sebaceous gland anomaly,,,,,,,,,,, +GARD:20269,Active,Orphanet,ORPHA:183463,Group of disorders,[Category],Genetic pigmentation anomaly of the skin,,,,,,,,,,, +GARD:2027,Active,Orphanet,ORPHA:256,Disorder,[Disease],Early-onset generalized limb-onset dystonia,"[Dystonia musculorum deformans, EOTD, Early-onset generalized torsion dystonia, Early-onset isolated dystonia, Early-onset primary dystonia, Early-onset torsion dystonia, Idiopathic torsion dystonia, Oppenheim dystonia]","A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region.","[128100, 602554]",,,,,DYT-TOR1A,TRUE,FALSE,Active +GARD:20270,Active,Orphanet,ORPHA:183466,Group of disorders,[Category],Genetic hyperpigmentation of the skin,,,,,,,,,,, +GARD:20271,Active,Orphanet,ORPHA:183469,Group of disorders,[Category],Genetic hypopigmentation of the skin,,,,,,,,,,, +GARD:20272,Active,Orphanet,ORPHA:183472,Group of disorders,[Category],Genetic dermis disorder,,,,,,,,,,, +GARD:20273,Active,Orphanet,ORPHA:183478,Group of disorders,[Category],Genetic skin vascular disorder,,,,,,,,,,, +GARD:20274,Active,Orphanet,ORPHA:183481,Group of disorders,[Category],Genetic mixed dermis disorder,,,,,,,,,,, +GARD:20275,Active,Orphanet,ORPHA:183484,Group of disorders,[Category],Genetic subcutaneous tissue disorder,,,,,,,,,,, +GARD:20276,Active,Orphanet,ORPHA:183487,Group of disorders,[Category],Genetic skin tumor or hamartoma,,,,,,,,,,, +GARD:20277,Active,Orphanet,ORPHA:183490,Group of disorders,[Category],Genetic photodermatosis,"[Genetic skin photosensitivity, Photogenodermatosis, Photogénodermatose]",,,,,,,,,, +GARD:20278,Active,Orphanet,ORPHA:183494,Group of disorders,[Category],Genetic immune deficiency with skin involvement,,,,,,,,,,, +GARD:20279,Active,Orphanet,ORPHA:183497,Group of disorders,[Category],Genetic neuromuscular disease,,,,,,,,,,, +GARD:2028,Active,Orphanet,ORPHA:99657,Disorder,[Disease],"Primary dystonia, DYT2 type",[DYT2],Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.,[224500],,,,,"Dystonia 2, torsion, autosomal recessive",TRUE,FALSE,Active +GARD:20280,Active,Orphanet,ORPHA:183500,Group of disorders,[Category],Genetic neurodegenerative disease,,,,,,,,,,, +GARD:20281,Active,Orphanet,ORPHA:183503,Group of disorders,[Category],Genetic central nervous system and retinal vascular disease,,,,,,,,,,, +GARD:20282,Active,Orphanet,ORPHA:183506,Group of disorders,[Category],Genetic central nervous system malformation,,,,,,,,,,, +GARD:20283,Active,Orphanet,ORPHA:183509,Group of disorders,[Category],Rare genetic headache,,,,,,,,,,, +GARD:20284,Active,Orphanet,ORPHA:183512,Group of disorders,[Category],Rare genetic epilepsy,,,,,,,,,,, +GARD:20285,Active,Orphanet,ORPHA:183515,Group of disorders,[Category],Rare genetic medullar disease,,,,,,,,,,, +GARD:20286,Active,Orphanet,ORPHA:183518,Group of disorders,[Category],Rare hereditary ataxia,,,,,,,,,,, +GARD:20287,Active,Orphanet,ORPHA:183521,Group of disorders,[Category],Rare genetic movement disorder,,,,,,,,,,, +GARD:20288,Active,Orphanet,ORPHA:183524,Group of disorders,[Category],Rare genetic bone disease,,,,,,,,,,, +GARD:20289,Active,Orphanet,ORPHA:183527,Group of disorders,[Category],Genetic bone tumor,,,,,,,,,,, +GARD:20290,Active,Orphanet,ORPHA:183530,Group of disorders,[Category],Rare genetic developmental defect during embryogenesis,,,,,,,,,,, +GARD:20291,Active,Orphanet,ORPHA:183533,Group of disorders,[Category],Genetic multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:20292,Active,Orphanet,ORPHA:183536,Group of disorders,[Category],Genetic congenital limb malformation,,,,,,,,,,, +GARD:20293,Active,Orphanet,ORPHA:183539,Group of disorders,[Category],Genetic renal or urinary tract malformation,,,,,,,,,,, +GARD:20294,Active,Orphanet,ORPHA:183542,Group of disorders,[Category],Genetic cranial malformation,,,,,,,,,,, +GARD:20295,Active,Orphanet,ORPHA:183545,Group of disorders,[Category],Genetic digestive tract malformation,,,,,,,,,,, +GARD:20296,Active,Orphanet,ORPHA:183548,Group of disorders,[Category],"Genetic visceral malformation of the liver, biliary tract, pancreas or spleen",,,,,,,,,,, +GARD:20297,Active,Orphanet,ORPHA:183554,Group of disorders,[Category],Genetic respiratory or mediastinal malformation,,,,,,,,,,, +GARD:20298,Active,Orphanet,ORPHA:183557,Group of disorders,[Category],Genetic developmental defect of the eye,,,,,,,,,,, +GARD:20299,Active,Orphanet,ORPHA:183570,Group of disorders,[Category],Genetic malformation syndrome with short stature,,,,,,,,,,, +GARD:203,Legacy,GARD,,,,,,,,,,,,Crohn's disease of the esophagus,TRUE,FALSE,Active +GARD:20300,Active,Orphanet,ORPHA:183573,Group of disorders,[Category],Genetic overgrowth/obesity syndrome,,,,,,,,,,, +GARD:20301,Active,Orphanet,ORPHA:183576,Group of disorders,[Category],Genetic branchial arch or oral-acral syndrome,,,,,,,,,,, +GARD:20302,Active,Orphanet,ORPHA:183580,Group of disorders,[Category],Genetic malformation syndrome with odontal and/or periodontal component,,,,,,,,,,, +GARD:20303,Active,Orphanet,ORPHA:183583,Group of disorders,[Category],Genetic head and neck malformation,,,,,,,,,,, +GARD:20304,Active,Orphanet,ORPHA:183586,Group of disorders,[Category],Genetic glomerular disease,,,,,,,,,,, +GARD:20305,Active,Orphanet,ORPHA:183589,Group of disorders,[Category],Genetic thrombotic microangiopathy,,,,,,,,,,, +GARD:20306,Active,Orphanet,ORPHA:183592,Group of disorders,[Category],Genetic renal tubular disease,,,,,,,,,,, +GARD:20307,Active,Orphanet,ORPHA:183595,Group of disorders,[Category],Genetic renal tumor,,,,,,,,,,, +GARD:20308,Active,Orphanet,ORPHA:183607,Group of disorders,[Category],Genetic lens and zonula anomaly,,,,,,,,,,, +GARD:20309,Active,Orphanet,ORPHA:183616,Group of disorders,[Category],Genetic neuro-ophthalmological disease,,,,,,,,,,, +GARD:2031,Active,Orphanet,ORPHA:207085,Group of disorders,[Category],Qualitative or quantitative defects of dystrophin,[Dystrophinopathy],,,,,,,Dystrophinopathy,TRUE,FALSE,Active +GARD:20310,Active,Orphanet,ORPHA:183619,Group of disorders,[Category],Genetic eye tumor,,,,,,,,,,, +GARD:20311,Active,Orphanet,ORPHA:183622,Group of disorders,[Category],Genetic respiratory malformation,,,,,,,,,,, +GARD:20312,Active,Orphanet,ORPHA:183625,Group of disorders,[Category],Rare genetic diabetes mellitus,,,,,,,,,,, +GARD:20313,Active,Orphanet,ORPHA:183628,Group of disorders,[Category],Rare genetic hypothalamic or pituitary disease,,,,,,,,,,, +GARD:20314,Active,Orphanet,ORPHA:183631,Group of disorders,[Category],Rare genetic thyroid disease,,,,,,,,,,, +GARD:20315,Active,Orphanet,ORPHA:183634,Group of disorders,[Category],Rare genetic parathyroid disease and phosphocalcic metabolism disorder,,,,,,,,,,, +GARD:20316,Active,Orphanet,ORPHA:183637,Group of disorders,[Category],Rare genetic adrenal disease,,,,,,,,,,, +GARD:20317,Active,Orphanet,ORPHA:183643,Group of disorders,[Category],Genetic polyendocrinopathy,,,,,,,,,,, +GARD:20318,Active,Orphanet,ORPHA:183651,Group of disorders,[Category],Rare constitutional anemia,,,,,,,,,,, +GARD:20319,Active,Orphanet,ORPHA:183654,Group of disorders,[Category],Rare genetic coagulation disorder,,,,,,,,,,, +GARD:2032,Legacy,GARD,,,,,,,,,,,,EAF,TRUE,FALSE,Active +GARD:20320,Active,Orphanet,ORPHA:183669,Group of disorders,[Category],Agammaglobulinemia,,,,,,,,,,, +GARD:20321,Active,Orphanet,ORPHA:183681,Group of disorders,[Category],Functional neutrophil defect,,,,,,,,,,, +GARD:20322,Active,Orphanet,ORPHA:183710,Group of disorders,[Category],Genetic susceptibility to infections due to particular pathogens,,,,,,,,,,, +GARD:20323,Active,Orphanet,ORPHA:183731,Group of disorders,[Category],Rare genetic gynecological and obstetrical diseases,,,,,,,,,,, +GARD:20324,Active,Orphanet,ORPHA:183734,Group of disorders,[Category],Genetic gynecological tumor,,,,,,,,,,, +GARD:20325,Active,Orphanet,ORPHA:183757,Group of disorders,[Category],Rare genetic intellectual disability,,,,,,,,,,, +GARD:20326,Active,Orphanet,ORPHA:183763,Group of disorders,[Category],Rare genetic syndromic intellectual disability,,,,,,,,,,, +GARD:20327,Active,Orphanet,ORPHA:183770,Group of disorders,[Category],Rare genetic immune disease,,,,,,,,,,, +GARD:20328,Active,Orphanet,ORPHA:199257,Group of disorders,[Clinical group],Superficial fibromatosis,,,,,,,,,,, +GARD:20329,Active,Orphanet,ORPHA:199260,Disorder,[Disease],Calcifying aponeurotic fibroma,"[Juvenile aponeurotic fibromatosis, Keasby tumor]","A rare, superficial fibromatosis characterized by non-malignant, locally invading, fibrosing tumour of differentiated fibroblasts, slowly growing subcutaneously, occurring predominantly distally on the extremities, especially the hands and feet. Histologic examination shows a multinodular pattern with large areas of calcification and fibrosis, and the presence of elongated spindle cells with hyperchromatic plump vesicular nuclei interspersed within fine bands of collagen.",,,,,,,,, +GARD:2033,Active,Orphanet,ORPHA:2554,Disorder,[Malformation syndrome],Ear-patella-short stature syndrome,[Meier-Gorlin syndrome],"A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).","[613803, 613800, 616835, 617063, 613804, 224690, 613805]",,,,,Meier-Gorlin syndrome,TRUE,FALSE,Active +GARD:20330,Active,Orphanet,ORPHA:199293,Disorder,[Morphological anomaly],Congenital microgastria,,"Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.",,,,,,,,, +GARD:20331,Active,Orphanet,ORPHA:199299,Disorder,[Disease],Late-onset isolated ACTH deficiency,,"Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.",,,,,,,,, +GARD:20332,Active,Orphanet,ORPHA:199310,Disorder,[Malformation syndrome],Tetragametic chimerism,"[46,XX/46,XY chimerism]","A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.",,,,,,,,, +GARD:20333,Active,Orphanet,ORPHA:199323,Disorder,[Disease],Endophthalmitis,,"A rare ophthalmic disorder characterized by inflammation involving the vitreous and/or aqueous humors, usually due to bacterial or fungal infection. It may arise endogenously from hematogenous spread of the infectious agent, or exogenously after direct inoculation, and can take an acute or chronic course. Clinical signs and symptoms include progressive vitritis, hypopyon, reduced or blurred vision, red eye, pain, and lid swelling. The condition may be complicated by panophthalmitis, corneal infiltration and perforation, affection of orbital structures, and phthisis bulbi.",,,,,,,,, +GARD:20334,Active,Orphanet,ORPHA:199326,Disorder,[Disease],"Isolated autosomal dominant hypomagnesemia, Glaudemans type",,"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.",,,,,,,,, +GARD:20335,Active,Orphanet,ORPHA:199329,Disorder,[Disease],"Congenital myopathy, Paradas type",,"A rare congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.",,,,,,,,, +GARD:20336,Active,Orphanet,ORPHA:199627,Disorder,[Disease],Atypical autism,,"A rare, pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior.",,,,,,,,, +GARD:20337,Active,Orphanet,ORPHA:199630,Disorder,[Morphological anomaly],Isolated cerebellar vermis hypoplasia,,"Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.",,,,,,,,, +GARD:20338,Active,Orphanet,ORPHA:199633,Group of disorders,[Category],Non-syndromic cerebral malformation,[Non-syndromic brain malformation],,,,,,,,,, +GARD:20339,Active,Orphanet,ORPHA:199639,Group of disorders,[Category],Syndrome with corpus callosum agenesis/dysgenesis as a major feature,,,,,,,,,,, +GARD:2034,Legacy,GARD,,,,,,,,,,,,Thickened earlobes-conductive deafness syndrome,TRUE,FALSE,Active +GARD:20340,Active,Orphanet,ORPHA:200037,Group of disorders,[Clinical group],Paroxysmal dystonia,,,,,,,,,,, +GARD:20341,Active,Orphanet,ORPHA:202940,Group of disorders,[Category],Anomaly of puberty or/and menstrual cycle of genetic origin,,,,,,,,,,, +GARD:20342,Active,Orphanet,ORPHA:202948,Group of disorders,[Category],Syndromic microphthalmia-anophthalmia-coloboma,[Syndromic microphthalmia],,,,,,,,,, +GARD:20343,Active,Orphanet,ORPHA:206436,Subtype of disorder,[Clinical subtype],Infantile Krabbe disease,"[Krabbe disease, classic form, Krabbe disease, early-onset]",,,,,,,,,, +GARD:20344,Active,Orphanet,ORPHA:206443,Subtype of disorder,[Clinical subtype],Late-infantile/juvenile Krabbe disease,"[Krabbe disease, late-onset]",,,,,,,,,, +GARD:20345,Active,Orphanet,ORPHA:206448,Subtype of disorder,[Clinical subtype],Adult Krabbe disease,,,,,,,,,,, +GARD:20346,Active,Orphanet,ORPHA:206470,Disorder,[Disease],Cystadenoma of childhood,[Cystadenoma of ovary in childhood],"A benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.",,,,,,,,, +GARD:20347,Active,Orphanet,ORPHA:206489,Disorder,[Disease],Malignant germ cell tumor of the vagina,"[Vaginal germ cell cancer, Vaginal germ cell malignant tumor]","Malignant germ cell tumor of the vagina is an extremely rare, malignant, vulvovaginal neoplasm, deriving from primordial germ cells in the vagina, typically characterized by painless bloody vaginal discharge and a polypoid mass which protrudes from the vagina. Serum alpha-fetoprotein is usually elevated and rapid progression, local agression and early metastasis to liver and lungs is reported.",,,,,,,,, +GARD:20348,Active,Orphanet,ORPHA:206492,Disorder,[Disease],Vulvovaginal rhabdomyosarcoma,,"Vulvovaginal rhabdomyosarcoma is a rare vulvovaginal tumour, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration.",,,,,,,,, +GARD:20349,Active,Orphanet,ORPHA:206538,Disorder,[Disease],Malignant non-dysgerminomatous germ cell tumor of ovary,[Non-dysgerminomatous germ cell cancer of ovary],"Malignant non-dysgerminomatous germ cell tumor of ovary is a rare malignant germ cell tumor of ovary (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilization, hyperthyroidism or carcinoid syndrome (see this term). Histologically they comprise the following: embryonal carcinoma, Yolk sac tumor, polyembryoma and mixed germ cell tumor.",,,,,,,,, +GARD:2035,Active,Orphanet,ORPHA:319218,Disorder,[Disease],Ebola hemorrhagic fever,"[EHF, Ebola fever, Ebola virus disease]","Ebola hemorrhagic fever (EHF), caused by Ebola virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.",,,,,,Ebola virus disease,TRUE,FALSE,Active +GARD:20350,Active,Orphanet,ORPHA:206546,Disorder,[Disease],Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,,"A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.",,,,,,,,, +GARD:20351,Active,Orphanet,ORPHA:206569,Disorder,[Disease],Immune-mediated necrotizing myopathy,"[Anti-HMG-CoA myopathy, Anti-SRP myopathy, Autoimmune necrotizing myositis, IMNM, Immune myopathy with myocyte necrosis, NAM]","A rare form of idiopathic inflammatory myopathy characterized by acute or subacute, severe, symmetrical, proximal muscle weakness usually associated with muscle-specific antibodies (anti-HMGCR or anti-SRP). Histopathological characteristics include myocyte necrosis and regeneration without significant inflammation, and C5b-9 deposition on non-necrotic myofibers.",,,,,,,,, +GARD:20352,Active,Orphanet,ORPHA:206572,Disorder,[Disease],Overlap myositis,"[Adult-onset overlap myositis, Non-specific myositis]","A rare idiopathic inflammatory myopathy (IIM) with a heterogeneous phenotype characterized by myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud's phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE).",,,,,,,,, +GARD:20353,Active,Orphanet,ORPHA:206575,Disorder,[Disease],Rippling muscle disease with myasthenia gravis,"[Acquired rippling muscle disease, Immune-mediated rippling muscle disease]","Rippling muscle disease with myasthenia gravis is a rare, acquired, neuromuscular disease characterized by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically-silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea).",,,,,,,,, +GARD:20354,Active,Orphanet,ORPHA:206586,Disorder,[Disease],Neurolymphomatosis,,"Neurolymphomatosis is a rare syndrome of peripheral and cranial nerve dysfunction in patients with hematologic malignancies, mostly non-Hodgkin's lymphoma or acute leukemia, characterized by painful or painless involvement of peripheral or cranial nerves or nerve roots. The clinical presentation is diverse depending on the site involved and includes plexopathy, mononeuritis multiplex, peripheral neuropathy, radiculopathy and cranial nerve palsies.",,,,,,,,, +GARD:20355,Active,Orphanet,ORPHA:206594,Disorder,[Disease],Subacute inflammatory demyelinating polyneuropathy,[Subacute inflammatory demyelinating polyradiculoneuropathy],"Subacute inflammatory demyelinating polyneuropathy (SIDP) is a subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP; see these terms).",,,,,,,,, +GARD:20356,Active,Orphanet,ORPHA:206599,Disorder,[Biological anomaly],Isolated asymptomatic elevation of creatine phosphokinase,"[Idiopathic asymptomatic hyperCKemia, Isolated asymptomatic hyperCKemia]","A rare neurologic biological anomaly characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.",,,,,,,,, +GARD:20357,Active,Orphanet,ORPHA:206613,Group of disorders,[Category],Infectious disease with peripheral neuropathy,,,,,,,,,,, +GARD:20358,Active,Orphanet,ORPHA:206634,Group of disorders,[Category],Genetic skeletal muscle disease,,,,,,,,,,, +GARD:20359,Active,Orphanet,ORPHA:206638,Group of disorders,[Category],Acquired skeletal muscle disease,,,,,,,,,,, +GARD:20360,Active,Orphanet,ORPHA:206644,Group of disorders,[Category],Progressive muscular dystrophy,,,,,,,,,,, +GARD:20361,Active,Orphanet,ORPHA:206650,Group of disorders,[Category],Autosomal dominant distal myopathy,,,,,,,,,,, +GARD:20362,Active,Orphanet,ORPHA:206653,Group of disorders,[Category],Autosomal recessive distal myopathy,,,,,,,,,,, +GARD:20363,Active,Orphanet,ORPHA:206656,Group of disorders,[Category],Non-dystrophic myopathy,,,,,,,,,,, +GARD:20364,Active,Orphanet,ORPHA:206662,Group of disorders,[Category],Inclusion myopathy,,,,,,,,,,, +GARD:20365,Active,Orphanet,ORPHA:206701,Group of disorders,[Category],Bulbospinal muscular atrophy,,,,,,,,,,, +GARD:20366,Active,Orphanet,ORPHA:206704,Group of disorders,[Clinical group],Bulbospinal muscular atrophy of childhood,,,,,,,,,,, +GARD:20367,Active,Orphanet,ORPHA:206707,Group of disorders,[Clinical group],Bulbospinal muscular atrophy of adult,,,,,,,,,,, +GARD:20368,Active,Orphanet,ORPHA:206710,Group of disorders,[Clinical group],Generalized bulbospinal muscular atrophy,,,,,,,,,,, +GARD:20369,Active,Orphanet,ORPHA:206953,Group of disorders,[Category],Muscular lipidosis,[Lipid storage myopathy],,,,,,,,,, +GARD:20370,Active,Orphanet,ORPHA:206959,Group of disorders,[Clinical group],Muscular glycogenosis,[Glycogen storage myopathy],,,,,,,,,, +GARD:20371,Active,Orphanet,ORPHA:206966,Group of disorders,[Category],Mitochondrial myopathy,,,,,,,,,,, +GARD:20372,Active,Orphanet,ORPHA:206970,Group of disorders,[Category],Myotonic syndrome,,,,,,,,,,, +GARD:20373,Active,Orphanet,ORPHA:206973,Group of disorders,[Clinical group],Congenital myotonia,,,,,,,,,,, +GARD:20374,Active,Orphanet,ORPHA:206976,Group of disorders,[Clinical group],Periodic paralysis,,,,,,,,,,, +GARD:20375,Active,Orphanet,ORPHA:206982,Group of disorders,[Category],Muscular tumor,,,,,,,,,,, +GARD:20376,Active,Orphanet,ORPHA:206988,Group of disorders,[Category],"Infectious, fungal or parasitic myopathy",,,,,,,,,,, +GARD:20377,Active,Orphanet,ORPHA:206991,Disorder,[Disease],Viral myositis,,"A rare acquired skeletal muscle disease characterized by sudden onset of muscle weakness, tenderness, and pain during or following recovery from a viral illness. The most commonly reported underlying viral infections are influenza B and A, the latter being the significantly less frequent cause. Most cases occur in children. Symptoms are often limited to the calf muscles, but other muscle groups may be involved as well. The condition is typically self-limiting, resolving within several days, although rhabdomyolysis with renal failure and compartment syndrome have been reported.",,,,,,,,, +GARD:20378,Active,Orphanet,ORPHA:206994,Disorder,[Disease],Bacterial myositis,,"A rare acquired skeletal muscle disease characterized by diffuse muscle infection without an intramuscular abscess. Although a wide variety of bacteria can be causative, the majority of cases are due to streptococcal infection. Signs and symptoms depend on the underlying infectious agent and include muscular pain, swelling, weakness, rash, acute rhabdomyolysis, myonecrosis, and gangrene.",,,,,,,,, +GARD:20379,Active,Orphanet,ORPHA:206997,Group of disorders,[Category],Parasitic myositis,,,,,,,,,,, +GARD:2038,Legacy,GARD,,,,,,,,,,,,Basan syndrome,TRUE,FALSE,Retired +GARD:20380,Active,Orphanet,ORPHA:207000,Disorder,[Disease],Fungal myositis,,"A rare acquired skeletal muscle disease characterized by inflammation of a muscle due to infection with a fungus, usually occurring in an immunocompromised host. General symptoms are pain, tenderness, swelling, and/or weakness in the affected muscle. Most common causative agent are Candida species, with myositis developing in the setting of systemic candidiasis, typically as diffuse, multiple microabscesses. Other fungal pathogens potentially causing myositis are Cryptococcus neoformans, Histoplasma capsulatum, Coccidioides species, or Aspergillus species, among others.",,,,,,,,, +GARD:20381,Active,Orphanet,ORPHA:207012,Group of disorders,[Clinical group],Spinal muscular atrophy associated with central nervous system anomaly,,,,,,,,,,, +GARD:20382,Active,Orphanet,ORPHA:207018,Group of disorders,[Category],Rare hereditary metabolic disease with peripheral neuropathy,,,,,,,,,,, +GARD:20383,Active,Orphanet,ORPHA:207021,Group of disorders,[Category],Rare hereditary systemic disease with peripheral neuropathy,,,,,,,,,,, +GARD:20384,Active,Orphanet,ORPHA:207025,Group of disorders,[Category],Rare hereditary neurologic disease with peripheral neuropathy,,,,,,,,,,, +GARD:20385,Active,Orphanet,ORPHA:207028,Group of disorders,[Category],Cerebellar ataxia with peripheral neuropathy,,,,,,,,,,, +GARD:20386,Active,Orphanet,ORPHA:207038,Group of disorders,[Category],Acute and subacute inflammatory demyelinating polyneuropathy,[Acute and subacute inflammatory demyelinating polyradiculoneuropathy],,,,,,,,,, +GARD:20387,Active,Orphanet,ORPHA:207046,Group of disorders,[Category],Malignant lymphoma with peripheral neuropathy,,,,,,,,,,, +GARD:20388,Active,Orphanet,ORPHA:207049,Group of disorders,[Category],Qualitative or quantitative protein defects in neuromuscular diseases,,,,,,,,,,, +GARD:20389,Active,Orphanet,ORPHA:207052,Group of disorders,[Category],Qualitative or quantitative defects of sarcoglycan,[Sarcoglycanopathy],,,,,,,,,, +GARD:2039,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia adrenal cyst,TRUE,FALSE,Retired +GARD:20390,Active,Orphanet,ORPHA:207060,Group of disorders,[Category],Qualitative or quantitative defects of alpha-sarcoglycan,,,,,,,,,,, +GARD:20391,Active,Orphanet,ORPHA:207063,Group of disorders,[Category],Qualitative or quantitative defects of beta-sarcoglycan,,,,,,,,,,, +GARD:20392,Active,Orphanet,ORPHA:207067,Group of disorders,[Category],Qualitative or quantitative defects of gamma-sarcoglycan,,,,,,,,,,, +GARD:20393,Active,Orphanet,ORPHA:207070,Group of disorders,[Category],Qualitative or quantitative defects of delta-sarcoglycan,,,,,,,,,,, +GARD:20394,Active,Orphanet,ORPHA:207078,Group of disorders,[Category],Qualitative or quantitative defects of caveolin-3,[Caveolinopathy],,,,,,,,,, +GARD:20395,Active,Orphanet,ORPHA:207090,Group of disorders,[Category],Qualitative or quantitative defects of collagen 6,,,,,,,,,,, +GARD:20396,Active,Orphanet,ORPHA:207094,Group of disorders,[Category],Laminin subunit alpha 2-related muscular dystrophy,"[LAMA2-related muscular dystrophy, Qualitative or quantitative defects of merosin]",,,,,,,,,, +GARD:20397,Active,Orphanet,ORPHA:207098,Group of disorders,[Category],Qualitative or quantitative defects of integrin alpha-7,[Integrinopathy],,,,,,,,,, +GARD:20398,Active,Orphanet,ORPHA:207101,Group of disorders,[Category],Qualitative or quantitative defects of perlecan,,,,,,,,,,, +GARD:20399,Active,Orphanet,ORPHA:207104,Group of disorders,[Category],Qualitative or quantitative defects of calpain,,,,,,,,,,, +GARD:204,Legacy,GARD,,,,,,,,,,,,Dieterich's disease,TRUE,FALSE,Active +GARD:2040,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia alopecia preaxial polydactyly,TRUE,FALSE,Active +GARD:20400,Active,Orphanet,ORPHA:207107,Group of disorders,[Category],Qualitative or quantitative defects of TRIM32,,,,,,,,,,, +GARD:20401,Active,Orphanet,ORPHA:207110,Group of disorders,[Category],Qualitative or quantitative defects of myotubularin,,,,,,,,,,, +GARD:20402,Active,Orphanet,ORPHA:207113,Group of disorders,[Category],Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan,"[Secondary alpha-dystroglycanopathy, Secondary dystroglycanopathy]",,,,,,,,,, +GARD:20403,Active,Orphanet,ORPHA:207119,Group of disorders,[Category],Qualitative or quantitative defects of FKRP,,,,,,,,,,, +GARD:20404,Active,Orphanet,ORPHA:207122,Group of disorders,[Category],Qualitative or quantitative defects of fukutin,,,,,,,,,,, +GARD:20405,Active,Orphanet,ORPHA:208508,Group of disorders,[Clinical group],Autosomal dominant cerebellar ataxia type II,"[ADCA2, ADCAII, Autosomal dominant cerebellar ataxia type 2]",,,,,,,,,, +GARD:20406,Active,Orphanet,ORPHA:208524,Disorder,[Disease],Herpetiform pemphigus,,"A rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and sometimes vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histology can show an aspect of either pemphigus (superficial or deep), or an intraepidermal infiltrate rich in eosinophils (eosinophilic spongiosis).",,,,,,,,, +GARD:20407,Active,Orphanet,ORPHA:208593,Group of disorders,[Category],Genetic hypoparathyroidism,,,,,,,,,,, +GARD:20408,Active,Orphanet,ORPHA:208596,Group of disorders,[Category],Genetic hyperparathyroidism,,,,,,,,,,, +GARD:20409,Active,Orphanet,ORPHA:208974,Group of disorders,[Clinical group],Chronic acquired demyelinating polyneuropathy,[CADP],,,,,,,,,, +GARD:20410,Active,Orphanet,ORPHA:208978,Group of disorders,[Clinical group],Chronic polyradiculoneuropathy,,,,,,,,,,, +GARD:20411,Active,Orphanet,ORPHA:208981,Disorder,[Disease],Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies,,,,,,,,,,, +GARD:20412,Active,Orphanet,ORPHA:208984,Group of disorders,[Category],Acquired sensory ganglionopathy,[Acquired sensory neuronopathy],,,,,,,,,, +GARD:20413,Active,Orphanet,ORPHA:208989,Disorder,[Disease],Non-paraneoplastic sensory ganglionopathy,[Non-paraneoplastic sensory neuronopathy],,,,,,,,,, +GARD:20414,Active,Orphanet,ORPHA:208999,Disorder,[Disease],Paraneoplastic sensory ganglionopathy,[Paraneoplastic sensory neuronopathy],,,,,,,,,, +GARD:20415,Active,Orphanet,ORPHA:209004,Disorder,[Disease],Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy,,,,,,,,,,, +GARD:20416,Active,Orphanet,ORPHA:209007,Group of disorders,[Category],Systemic inflammatory disease associated with an acquired peripheral neuropathy,,,,,,,,,,, +GARD:20417,Active,Orphanet,ORPHA:209010,Group of disorders,[Category],Peripheral neuropathy associated with monoclonal gammopathy,,,,,,,,,,, +GARD:20418,Active,Orphanet,ORPHA:209013,Group of disorders,[Category],Acquired amyloid peripheral neuropathy,,,,,,,,,,, +GARD:20419,Active,Orphanet,ORPHA:209016,Group of disorders,[Category],Hematological disease associated with an acquired peripheral neuropathy,,,,,,,,,,, +GARD:2042,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia arthrogryposis diabetes mellitus,TRUE,FALSE,Active +GARD:20420,Active,Orphanet,ORPHA:209019,Group of disorders,[Category],Solid tumor associated with an acquired peripheral neuropathy,,,,,,,,,,, +GARD:20421,Active,Orphanet,ORPHA:209024,Group of disorders,[Category],"Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase",[Qualitative or quantitative defects of protein POMGNT1],,,,,,,,,, +GARD:20422,Active,Orphanet,ORPHA:209027,Group of disorders,[Category],Qualitative or quantitative defects of protein glycosyltransferase-like,,,,,,,,,,, +GARD:20423,Active,Orphanet,ORPHA:209030,Group of disorders,[Category],Qualitative or quantitative defects of protein O-mannosyltransferase 1,,,,,,,,,,, +GARD:20424,Active,Orphanet,ORPHA:209033,Group of disorders,[Category],Qualitative or quantitative defects of protein O-mannosyltransferase 2,,,,,,,,,,, +GARD:20425,Active,Orphanet,ORPHA:209038,Group of disorders,[Category],Qualitative or quantitative defects of myofibrillar proteins,,,,,,,,,,, +GARD:20426,Active,Orphanet,ORPHA:209041,Group of disorders,[Category],Qualitative or quantitative defects of desmin,,,,,,,,,,, +GARD:20427,Active,Orphanet,ORPHA:209044,Group of disorders,[Category],Qualitative or quantitative defects of alphaB-cristallin,,,,,,,,,,, +GARD:20428,Active,Orphanet,ORPHA:209047,Group of disorders,[Category],Qualitative or quantitative defects of filamin C,,,,,,,,,,, +GARD:20429,Active,Orphanet,ORPHA:209050,Group of disorders,[Category],Qualitative or quantitative defects of protein ZASP,,,,,,,,,,, +GARD:2043,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia Bartalos type,TRUE,FALSE,Active +GARD:20430,Active,Orphanet,ORPHA:209053,Group of disorders,[Category],Qualitative or quantitative defects of titin,,,,,,,,,,, +GARD:20431,Active,Orphanet,ORPHA:209056,Group of disorders,[Category],Qualitative or quantitative defects of telethonin,,,,,,,,,,, +GARD:20432,Active,Orphanet,ORPHA:209059,Group of disorders,[Category],Qualitative or quantitative defects of alpha-actin,,,,,,,,,,, +GARD:20433,Active,Orphanet,ORPHA:209182,Group of disorders,[Category],Qualitative or quantitative defects of nebulin,,,,,,,,,,, +GARD:20434,Active,Orphanet,ORPHA:209185,Group of disorders,[Category],Qualitative or quantitative defects of beta-myosin heavy chain (MYH7),,,,,,,,,,, +GARD:20435,Active,Orphanet,ORPHA:209188,Group of disorders,[Category],Qualitative or quantitative defects of emerin,,,,,,,,,,, +GARD:20436,Active,Orphanet,ORPHA:209193,Group of disorders,[Category],Qualitative or quantitative defects of selenoprotein N1,,,,,,,,,,, +GARD:20437,Active,Orphanet,ORPHA:209196,Group of disorders,[Category],Qualitative or quantitative defects of plectin,,,,,,,,,,, +GARD:20438,Active,Orphanet,ORPHA:209199,Group of disorders,[Category],Qualitative or quantitative defects of protein SERCA1,,,,,,,,,,, +GARD:20439,Active,Orphanet,ORPHA:209203,Group of disorders,[Category],Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -,,,,,,,,,,, +GARD:2044,Active,Orphanet,ORPHA:1816,Disorder,[Malformation syndrome],Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,"[Berlin syndrome, Ectodermal dysplasia, Berlin type]","Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.",[246500],,,,,Ectodermal dysplasia Berlin type,TRUE,FALSE,Active +GARD:20440,Active,Orphanet,ORPHA:209224,Group of disorders,[Category],Myotilinopathy,[Qualitative or quantitative defects of myotilin],,,,,,,,,, +GARD:20441,Active,Orphanet,ORPHA:209902,Disorder,[Disease],Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,,"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency is a rare, genetic, sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertrigliceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.",,,,,,,,, +GARD:20442,Active,Orphanet,ORPHA:209956,Disorder,[Disease],Idiopathic uveal effusion syndrome,,"Idiopathic uveal effusion syndrome is a rare acquired eye disease characterized by uni- or bilateral abnormal fluid accumulation within the suprachoroidal space, resulting in internal choroidal elevation, in the absence of any known cause, such as decreased intraocular tension, intraocular tumor, intraocular inflammation or nanophtalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment.",,,,,,,,, +GARD:20443,Active,Orphanet,ORPHA:209959,Disorder,[Disease],Phacoanaphylactic uveitis,"[Endophthalmitis phacoanaphylactica, Lens-induced endophthalmitis, Lens-induced iridocyclitis, Lens-induced uveitis, Phacoallergic endophthalmitis, Phacoantigenic endophthalmitis, Phako-anaphylactic endophthalmitis]","A rare ophthalmic disorder characterized by a zonal granulomatous inflammatory reaction centered around the lens secondary to its traumatic rupture. Signs and symptoms include photophobia, ocular irritation or pain, blurred vision, redness, mutton-fat keratic precipitates, posterior synechiae, and sometimes hypopyon. Intraocular pressure may be elevated due to blockage of the trabecular meshwork by inflammatory cells or lens material.",,,,,,,,, +GARD:20444,Active,Orphanet,ORPHA:209964,Disorder,[Disease],Solitary rectal ulcer syndrome,,"Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.",,,,,,,,, +GARD:20445,Active,Orphanet,ORPHA:209973,Disorder,[Disease],Benign nocturnal alternating hemiplegia of childhood,,Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.,,,,,,,,, +GARD:20446,Active,Orphanet,ORPHA:209978,Group of disorders,[Clinical group],Alternating hemiplegia,,,,,,,,,,, +GARD:20447,Active,Orphanet,ORPHA:209989,Disorder,[Disease],Non-papillary transitional cell carcinoma of the bladder,[Non-papillary urothelial carcinoma],,,,,,,,,, +GARD:20448,Active,Orphanet,ORPHA:210133,Disorder,[Disease],Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome,,"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.",,,,,,,,, +GARD:20449,Active,Orphanet,ORPHA:210136,Disorder,[Disease],Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome,,"Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named “trimorphic syndrome” (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.",,,,,,,,, +GARD:2045,Active,Orphanet,ORPHA:1806,Disorder,[Malformation syndrome],Ectodermal dysplasia-blindness syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.",[268320],,,,,Ectodermal dysplasia blindness,TRUE,FALSE,Active +GARD:20450,Active,Orphanet,ORPHA:210576,Disorder,[Disease],Congenital temporomandibular joint ankylosis,[Congenital trismus],"Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.",,,,,,,,, +GARD:20451,Active,Orphanet,ORPHA:210581,Group of disorders,[Category],Temporomandibular joint anomaly,,,,,,,,,,, +GARD:20452,Active,Orphanet,ORPHA:210584,Disorder,[Disease],Spindle cell hemangioma,[Spindle cell hemangioendothelioma],"Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in Kaposi’s sarcoma and located in the dermis and subcutis.",,,,,,,,, +GARD:20453,Active,Orphanet,ORPHA:210589,Group of disorders,[Clinical group],Infantile hemangioma of rare localization,,,,,,,,,,, +GARD:20454,Active,Orphanet,ORPHA:211037,Group of disorders,[Clinical group],Autosomal dominant proximal spinal muscular atrophy,,"A group of rare, genetic, motor neuron disease characterized by childhood or adult onset progressive, predominantly proximal, muscular weakness and wasting. Included diseases are Autosomal dominant adult-onset proximal spinal muscular atrophy, Lower motor neuron syndrome with late-adult onset, and Autosomal dominant childhood-onset proximal spinal muscular atrophy.",,,,,,,,, +GARD:20455,Active,Orphanet,ORPHA:211047,Group of disorders,[Clinical group],Specific learning disability,"[Specific learning difficulty, Specific learning disorder]",,,,,,,,,, +GARD:20456,Active,Orphanet,ORPHA:211053,Group of disorders,[Clinical group],Specific language disorder,[Dysphasia],,,,,,,,,, +GARD:20457,Active,Orphanet,ORPHA:211062,Group of disorders,[Category],Hereditary episodic ataxia,,"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2.",,,,,,,,, +GARD:20458,Active,Orphanet,ORPHA:211237,Group of disorders,[Category],Rare vascular tumor,,,,,,,,,,, +GARD:20459,Active,Orphanet,ORPHA:211240,Group of disorders,[Category],Genetic vascular anomaly,,,,,,,,,,, +GARD:20460,Active,Orphanet,ORPHA:211243,Group of disorders,[Category],Simple vascular malformation,,,,,,,,,,, +GARD:20461,Active,Orphanet,ORPHA:211247,Group of disorders,[Category],Rare capillary malformation,,,,,,,,,,, +GARD:20462,Active,Orphanet,ORPHA:211252,Group of disorders,[Category],Rare venous malformation,,,,,,,,,,, +GARD:20463,Active,Orphanet,ORPHA:211255,Group of disorders,[Category],Rare lymphatic system anomaly,,,,,,,,,,, +GARD:20464,Active,Orphanet,ORPHA:211266,Group of disorders,[Category],Rare arteriovenous malformation,,,,,,,,,,, +GARD:20465,Active,Orphanet,ORPHA:211277,Group of disorders,[Category],Complex vascular malformation with associated anomalies,[Hemangiolymphangioma],,,,,,,,,, +GARD:20466,Active,Orphanet,ORPHA:213504,Disorder,[Disease],Adenocarcinoma of ovary,[Ovarian adenocarcinoma],,,,,,,,,, +GARD:20467,Active,Orphanet,ORPHA:213517,Group of disorders,[Clinical group],Familial ovarian cancer,[Familial ovarian malignant tumor],,,,,,,,,, +GARD:20468,Active,Orphanet,ORPHA:213524,Disorder,[Disease],Hereditary site-specific ovarian cancer syndrome,,"Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.",,,,,,,,, +GARD:20469,Active,Orphanet,ORPHA:213564,Group of disorders,[Category],Rare uterine cancer,"[Rare cancer of uterus, Rare malignant tumor of uterus, Rare uterine malignant tumor]",,,,,,,,,, +GARD:20470,Active,Orphanet,ORPHA:213569,Group of disorders,[Category],Rare cancer of corpus uteri,[Rare malignant tumor of corpus uteri],,,,,,,,,, +GARD:20471,Active,Orphanet,ORPHA:213574,Disorder,[Disease],Rare variants of adenocarcinoma of the corpus uteri,,,,,,,,,,, +GARD:20472,Active,Orphanet,ORPHA:213589,Group of disorders,[Clinical group],Malignant mixed epithelial and mesenchymal tumor of corpus uteri,[Mixed epithelial and mesenchymal cancer of corpus uteri],,,,,,,,,, +GARD:20473,Active,Orphanet,ORPHA:213600,Disorder,[Disease],Adenosarcoma of the corpus uteri,,"A rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less often abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported.",,,,,,,,, +GARD:20474,Active,Orphanet,ORPHA:213605,Disorder,[Disease],Carcinofibroma of the corpus uteri,,"Carcinofibroma of the corpus uteri is an extremely rare subtype of mixed müllerian tumor characterized by the presence of a uterine neoplasm which simuntaneously presents a malignant epithelial component (carcinomatous glands) and a benign mesenchymal component. Clinical presentation typically includes dysfunctional vaginal bleeding, abnormal vaginal discharge and/or lower abdominal pain.",,,,,,,,, +GARD:20475,Active,Orphanet,ORPHA:213615,Disorder,[Disease],Rhabdomyosarcoma of the corpus uteri,,"Rhabdomyosarcoma of the corpus uteri is an extremely rare, highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported.",,,,,,,,, +GARD:20476,Active,Orphanet,ORPHA:213620,Group of disorders,[Clinical group],Sarcoma of the corpus uteri,,,,,,,,,,, +GARD:20477,Active,Orphanet,ORPHA:213625,Disorder,[Disease],Leiomyosarcoma of the corpus uteri,,"Leiomyosarcoma of the corpus uteri is a rare, malignant, mesenchymal tumor of smooth muscle origin characterized, histologically, by spindle and/or pleomorphic cells, often forming disorganized fascicles, with tumor cell necrosis and, macroscopically, by a large, soft, usually intramural mass with irregular borders and necrotic and hemorrhagic areas, located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and hematuria may also be associated.",,,,,,,,, +GARD:20478,Active,Orphanet,ORPHA:213630,Disorder,[Disease],Primitive neuroectodermal tumor of the corpus uteri,"[Malignant peripheral neuroectodermal tumor of the corpus uteri, Peripheral neuroectodermal cancer of the corpus uteri]","Primitive neuroectodermal tumor of the corpus uteri is a rare cancer of corpus uteri derived from neural crest cells, characterized by small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, poorly circumscribed polypoid mass with necrotic areas and hemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement.",,,,,,,,, +GARD:20479,Active,Orphanet,ORPHA:213716,Disorder,[Disease],Squamous cell carcinoma of the corpus uteri,[Endometrial squamous cell carcinoma],"Squamous cell carcinoma of the corpus uteri is a rare cancer of corpus uteri composed of squamous cells of varying degree of differentiation that usually affects postmenopausal women and presents with abnormal vaginal discharge, dysfunctional bleeding, abdominal pain and distension. It is often associated with cervical stenosis and pyometra.",,,,,,,,, +GARD:2048,Active,Orphanet,ORPHA:1810,Subtype of disorder,[Etiological subtype],Autosomal dominant hypohidrotic ectodermal dysplasia,"[AD-HED, Autosomal dominant anhidrotic ectodermal dysplasia]",,"[614940, 129490, 617337]",,,,,Hypohidrotic ectodermal dysplasia autosomal dominant,TRUE,FALSE,Active +GARD:20480,Active,Orphanet,ORPHA:213721,Disorder,[Disease],Undifferentiated carcinoma of the corpus uteri,[Endometrial undifferentiated carcinoma],"Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.",,,,,,,,, +GARD:20481,Active,Orphanet,ORPHA:213726,Disorder,[Disease],Serous carcinoma of the corpus uteri,[Endometrial serous carcinoma],"A rare high-grade endometrial carcinoma characterized by diffuse, marked nuclear pleomorphism, typically exhibiting complex papillary and/or glandular growth patterns and showing abnormal p53 and diffuse p16 immunohistochemistry. The tumor typically arises in atrophic endometrium or in an endometrial polyp. Most patients present with postmenopausal bleeding. Extrauterine metastasis is present in 40-50% of surgically staged cases, most frequently involving lymph nodes or peritoneal sites and omentum. Patients with extrauterine spread have poor outcomes, while endometrium-limited carcinoma has a better prognosis.",,,,,,,,, +GARD:20482,Active,Orphanet,ORPHA:213731,Disorder,[Disease],High-grade neuroendocrine carcinoma of the corpus uteri,"[High-grade neuroendocrine carcinoma of the uterine corpus, Poorly differentiated neuroendocrine carcinoma of the corpus uteri, Poorly differentiated neuroendocrine carcinoma of the endometrium]","High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.",,,,,,,,, +GARD:20483,Active,Orphanet,ORPHA:213736,Disorder,[Disease],Low-grade neuroendocrine tumor of the corpus uteri,"[Low-grade neuroendocrine tumor of the uterine corpus, Well-differentiated neuroendocrine neoplasm of the endometrium, Well-differentiated neuroendocrine tumor of the corpus uteri, Well-differentiated neuroendocrine tumor of the endometrium]","Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.",,,,,,,,, +GARD:20484,Active,Orphanet,ORPHA:213746,Disorder,[Disease],Transitional cell carcinoma of the corpus uteri,[Endometrial transitional cell carcinoma],"A rare uterine cancer characterized by a usually intracavitary, friable, relatively well-circumscribed tumor located in the corpus uteri, with possible infiltration of the myometrium, composed, microscopically, of cells resembling urothelial transition cells, with a papillary or polypoid growth pattern, typically admixed with another type of carcinoma (frequently endometrial adenocarcinoma), generally manifesting with postmenopausal vaginal bleeding.",,,,,,,,, +GARD:20485,Active,Orphanet,ORPHA:213751,Disorder,[Disease],Malignant germ cell tumor of the corpus uteri,[Germ cell cancer of the corpus uteri],"Malignant germ cell tumor of the corpus uteri is an extremely rare uterine neoplasm characterized by a typically polypoid mass deriving from primordial germ cells localized in the endometrium. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. The malignant teratoma and yolk sac tumor histological subtypes are the most common.",,,,,,,,, +GARD:20486,Active,Orphanet,ORPHA:213761,Group of disorders,[Category],Rare cancer of cervix uteri,"[Rare cervical cancer, Rare cervical malignant tumor, Rare malignant tumor of cervix uteri]",,,,,,,,,, +GARD:20487,Active,Orphanet,ORPHA:213767,Disorder,[Disease],Squamous cell carcinoma of the cervix uteri,[Cervical squamous cell carcinoma],,,,,,,,,, +GARD:20488,Active,Orphanet,ORPHA:213772,Disorder,[Disease],Adenocarcinoma of the cervix uteri,[Cervical adenocarcinoma],,,,,,,,,, +GARD:20489,Active,Orphanet,ORPHA:213777,Disorder,[Disease],High-grade neuroendocrine carcinoma of the cervix uteri,"[High-grade neuroendocrine carcinoma of the uterine cervix, Poorly differentiated neuroendocrine carcinoma of the cervix uteri, Poorly differentiated neuroendocrine cervical carcinoma]","High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.",,,,,,,,, +GARD:2049,Active,Orphanet,ORPHA:1882,Disorder,[Malformation syndrome],Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,"[ANOTHER syndrome, HEDH syndrome]","A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.",[225050],,,,,Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia,TRUE,FALSE,Active +GARD:20490,Active,Orphanet,ORPHA:213782,Group of disorders,[Clinical group],Malignant mixed epithelial and mesenchymal tumor of cervix uteri,"[Cervical malignant mixed epithelial and mesenchymal tumor, Mixed epithelial and mesenchymal cancer of cervix uteri]",,,,,,,,,, +GARD:20491,Active,Orphanet,ORPHA:213787,Disorder,[Disease],Carcinosarcoma of the cervix uteri,"[Cervical carcinosarcoma, Cervical malignant Müllerian mixed tumor, Malignant Müllerian mixed tumor of the cervix uteri]","Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.",,,,,,,,, +GARD:20492,Active,Orphanet,ORPHA:213792,Disorder,[Disease],Adenosarcoma of the cervix uteri,[Cervical adenosarcoma],"A rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.",,,,,,,,, +GARD:20493,Active,Orphanet,ORPHA:213797,Group of disorders,[Clinical group],Sarcoma of cervix uteri,"[Cervical malignant mesenchymal tumor, Cervical sarcoma, Malignant mesenchymal tumor of cervix uteri]",,,,,,,,,, +GARD:20494,Active,Orphanet,ORPHA:213802,Disorder,[Disease],Rhabdomyosarcoma of the cervix uteri,[Cervical rhabdomyosarcoma],"Rhabdomyosarcoma of the cervix uteri is a rare, highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.",,,,,,,,, +GARD:20495,Active,Orphanet,ORPHA:213807,Disorder,[Disease],Leiomyosarcoma of the cervix uteri,[Cervical leiomyosarcoma],"Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.",,,,,,,,, +GARD:20496,Active,Orphanet,ORPHA:213812,Disorder,[Disease],Primitive neuroectodermal tumor of the cervix uteri,"[Cervical malignant peripheral neuroectodermal tumor, Cervical peripheral neuroectodermal cancer, Malignant peripheral neuroectodermal tumor of the cervix uteri, Peripheral neuroectodermal cancer of cervix uteri]","Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.",,,,,,,,, +GARD:20497,Active,Orphanet,ORPHA:213817,Disorder,[Disease],Papillary carcinoma of the cervix uteri,[Cervical papillary carcinoma],,,,,,,,,, +GARD:20498,Active,Orphanet,ORPHA:213823,Disorder,[Disease],Adenoid cystic carcinoma of the cervix uteri,[Cervical adenoid cystic carcinoma],"A rare, highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence.",,,,,,,,, +GARD:20499,Active,Orphanet,ORPHA:213828,Disorder,[Disease],Adenoid basal carcinoma of the cervix uteri,[Cervical adenoid basal carcinoma],"A rare, slow-growing uterine cancer characterized, histologically, by small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk HPV-types (16 and 33) has been reported in some cases.",,,,,,,,, +GARD:2050,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia Margarita type,TRUE,FALSE,Active +GARD:20500,Active,Orphanet,ORPHA:213833,Disorder,[Disease],Glassy cell carcinoma of the cervix uteri,,"Glassy cell carcinoma of the cervix uteri is a rare cancer of the uterine cervix, composed of nests of large neoplastic cells with 'ground glass' cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk HPV-infection (types 18, 16 and 32).",,,,,,,,, +GARD:20501,Active,Orphanet,ORPHA:213837,Disorder,[Disease],Malignant germ cell tumor of the cervix uteri,"[Cervical germ cell cancer, Cervical malignant germ cell tumor, Germ cell cancer of the cervix uteri]","Malignant germ cell tumor of the cervix uteri is an extremely rare uterine neoplasm characterized by a usually polypoid, friable tumor deriving from primordial germ cells located in the uterine cervix. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a cervical mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. Various histological subtypes (incl. dysgerminoma, yolk sac tumor, choriocarcinoma and malignant teratoma) are reported.",,,,,,,,, +GARD:20502,Active,Orphanet,ORPHA:216718,Subtype of disorder,[Clinical subtype],Isolated congenitally uncorrected transposition of the great arteries,[Isolated congenitally uncorrected transposition of the great vessels],,,,,,,,,, +GARD:20503,Active,Orphanet,ORPHA:216729,Subtype of disorder,[Clinical subtype],Congenitally uncorrected transposition of the great arteries with cardiac malformation,"[Congenitally uncorrected transposition of the great vessels with cardiac malformation, TGA with cardiac malformation]",,,,,,,,,, +GARD:20504,Active,Orphanet,ORPHA:216972,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, severe perinatal form",,,,,,,,,,, +GARD:20505,Active,Orphanet,ORPHA:216975,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, severe early infantile neurologic onset",,,,,,,,,,, +GARD:20506,Active,Orphanet,ORPHA:216978,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, late infantile neurologic onset",,,,,,,,,,, +GARD:20507,Active,Orphanet,ORPHA:216981,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, juvenile neurologic onset","[Niemann-Pick disease type C, classic form]",,,,,,,,,, +GARD:20508,Active,Orphanet,ORPHA:216986,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, adult neurologic onset",,,,,,,,,,, +GARD:20509,Active,Orphanet,ORPHA:217064,Disorder,[Particular clinical situation in a disease or syndrome],5-fluorouracil poisoning,[5-fluorouracil intoxication],"A rare intoxication caused by the prolonged, low-dose administration of 5-fluorouracil, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-fluorouracil poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-fluorouracil-related toxicity than men.",,,,,,,,, +GARD:2051,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia intellectual disability CNS malformation,TRUE,FALSE,Active +GARD:20510,Active,Orphanet,ORPHA:217067,Disorder,[Particular clinical situation in a disease or syndrome],Pouchitis,,,,,,,,,,, +GARD:20511,Active,Orphanet,ORPHA:217074,Group of disorders,[Category],Rare carcinoma of pancreas,[Rare pancreatic carcinoma],,,,,,,,,, +GARD:20512,Active,Orphanet,ORPHA:217080,Disorder,[Particular clinical situation in a disease or syndrome],Pulmonary fungal infections in patients deemed at risk,,,,,,,,,,, +GARD:20513,Active,Orphanet,ORPHA:217253,Disorder,[Disease],NMDA receptor encephalitis,"[Limbic encephalitis with N-methyl-D-aspartate receptor antibodies, Limbic encephalitis with NMDA receptor antibodies, N-methyl-D-aspartate receptor encephalitis, NMDARE, anti-NMDA receptor encephalitis]","A rare limbic encephalitis characterized by the presence of autoantibodies against NMDA receptors in serum and cerebrospinal fluid. It may be of paraneoplastic (most commonly associated with ovarian teratoma) or non-paraneoplastic origin and is life-threatening but potentially treatable. Patients present with acute behavioral change, psychosis, and catatonia, rapidly progressing to seizures, memory deficit, dyskinesias, speech problems, and autonomic and breathing dysregulation.",,,,,,,,, +GARD:20514,Active,Orphanet,ORPHA:217399,Disorder,[Disease],Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation,"[Congenital absence of pain with hyperhidrosis, Congenital analgesia with hyperhidrosis, Congenital indifference to pain with hyperhidrosis, Congenital insensitivity to pain with hyperhidrosis]",,,,,,,,,, +GARD:20515,Active,Orphanet,ORPHA:217454,Group of disorders,[Clinical group],Rare hereditary thrombophilia,,,,,,,,,,, +GARD:20516,Active,Orphanet,ORPHA:217557,Disorder,[Disease],Pulmonary interstitial glycogenosis,"[Infantile cellular interstitial pneumonitis, PIG]","Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term).",,,,,,,,, +GARD:20517,Active,Orphanet,ORPHA:217560,Disorder,[Disease],Neuroendocrine cell hyperplasia of infancy,"[NCHI, NEHI]","Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD, see this term) characterized by tachypnea without respiratory failure.",,,,,,,,, +GARD:20518,Active,Orphanet,ORPHA:217569,Group of disorders,[Category],Rare hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20519,Active,Orphanet,ORPHA:217572,Group of disorders,[Category],Glycogen storage disease with hypertrophic cardiomyopathy,"[GSD with hypertrophic cardiomyopathy, Glycogenosis with hypertrophic cardiomyopathy]",,,,,,,,,, +GARD:2052,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia mental retardation syndactyly,TRUE,FALSE,Retired +GARD:20520,Active,Orphanet,ORPHA:217581,Group of disorders,[Category],Lysosomal disease with hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20521,Active,Orphanet,ORPHA:217587,Group of disorders,[Category],Mitochondrial disease with hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20522,Active,Orphanet,ORPHA:217591,Group of disorders,[Category],Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20523,Active,Orphanet,ORPHA:217595,Group of disorders,[Category],Syndrome associated with hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20524,Active,Orphanet,ORPHA:217598,Group of disorders,[Category],Non-familial hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20525,Active,Orphanet,ORPHA:217607,Group of disorders,[Category],Familial dilated cardiomyopathy,,,,,,,,,,, +GARD:20526,Active,Orphanet,ORPHA:217610,Group of disorders,[Category],Neuromuscular disease with dilated cardiomyopathy,,,,,,,,,,, +GARD:20527,Active,Orphanet,ORPHA:217613,Group of disorders,[Category],Mitochondrial disease with dilated cardiomyopathy,,,,,,,,,,, +GARD:20528,Active,Orphanet,ORPHA:217616,Group of disorders,[Category],Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy,,,,,,,,,,, +GARD:20529,Active,Orphanet,ORPHA:217619,Group of disorders,[Category],Syndrome associated with dilated cardiomyopathy,,,,,,,,,,, +GARD:2053,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia neurosensory deafness,TRUE,FALSE,Active +GARD:20530,Active,Orphanet,ORPHA:217629,Group of disorders,[Category],Non-familial dilated cardiomyopathy,,,,,,,,,,, +GARD:20531,Active,Orphanet,ORPHA:217632,Group of disorders,[Category],Restrictive cardiomyopathy,,,,,,,,,,, +GARD:20532,Active,Orphanet,ORPHA:217635,Group of disorders,[Category],Familial restrictive cardiomyopathy,,,,,,,,,,, +GARD:20533,Active,Orphanet,ORPHA:217638,Group of disorders,[Category],Lysosomal disease with restrictive cardiomyopathy,,,,,,,,,,, +GARD:20534,Active,Orphanet,ORPHA:217678,Group of disorders,[Category],Unclassified cardiomyopathy,,,,,,,,,,, +GARD:20535,Active,Orphanet,ORPHA:217720,Group of disorders,[Category],Non-familial restrictive cardiomyopathy,,,,,,,,,,, +GARD:20536,Active,Orphanet,ORPHA:218436,Group of disorders,[Category],Rare cardiac rhythm disease,,,,,,,,,,, +GARD:20537,Active,Orphanet,ORPHA:218439,Group of disorders,[Category],Non-genetic cardiac rhythm disease,,,,,,,,,,, +GARD:20538,Active,Orphanet,ORPHA:220448,Disorder,[Disease],Macrothrombocytopenia with mitral valve insufficiency,,"Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.",,,,,,,,, +GARD:20539,Active,Orphanet,ORPHA:220452,Group of disorders,[Category],Isolated hereditary giant platelet disorder,"[Isolated hereditary macrothrombocytopenia, Isolated inherited giant platelet disorder, Isolated inherited macrothrombocytopenia]",,,,,,,,,, +GARD:20540,Active,Orphanet,ORPHA:220489,Group of disorders,[Category],Rare hereditary hemochromatosis,[Iron overload disease],"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease.",,,,,,,,, +GARD:20541,Active,Orphanet,ORPHA:221078,Disorder,[Disease],Combined hyperactive dysfunction syndrome of the cranial nerves,,"Combined hyperactive dysfunction syndrome of the cranial nerves is a rare, acquired peripheral neuropathy characterized by symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion. The symptoms may be unilateral or bilateral, may occur synchronously or metachronously, and include trigeminal neuralgia, hemifacial spasm and glossopharyngeal neuralgia.",,,,,,,,, +GARD:20542,Active,Orphanet,ORPHA:221109,Group of disorders,[Clinical group],Cranial neuralgia,[Facial neuralgia],,,,,,,,,, +GARD:20543,Active,Orphanet,ORPHA:221114,Group of disorders,[Category],Acquired peripheral movement disorder,,,,,,,,,,, +GARD:20544,Active,Orphanet,ORPHA:221142,Disorder,[Disease],Confetti-like macular atrophy,,"A rare, acquired, dermis elastic tissue disorder with decreased elastic tissue characterized by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganized, hyalinized, coarse collagen bundles, and variable loss of elastic fibers in the dermis.",,,,,,,,, +GARD:20545,Active,Orphanet,ORPHA:222628,Group of disorders,[Category],Hereditary poikiloderma,,,,,,,,,,, +GARD:20546,Active,Orphanet,ORPHA:223713,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder,[OXPHOS disease],,,,,,,,,, +GARD:20547,Active,Orphanet,ORPHA:223727,Group of disorders,[Clinical group],Bone sarcoma,,,,,,,,,,, +GARD:20548,Active,Orphanet,ORPHA:223735,Group of disorders,[Category],Lymphoma,,,,,,,,,,, +GARD:20549,Active,Orphanet,ORPHA:225147,Disorder,[Disease],Sporadic infantile bilateral striatal necrosis,"[ABSN, Acute bilateral striatal necrosis, Sporadic IBSN, Sporadic infantile striatonigral degeneration, Sporadic infantile striatonigral necrosis]","Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.",,,,,,,,, +GARD:2055,Active,Orphanet,ORPHA:1818,Disorder,[Malformation syndrome],"Ectodermal dysplasia, trichoodontoonychial type",,"Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.",[129510],,,,,Ectodermal dysplasia trichoodontoonychial type,TRUE,FALSE,Active +GARD:20550,Active,Orphanet,ORPHA:225681,Group of disorders,[Category],Lysosomal disease with epilepsy,,,,,,,,,,, +GARD:20551,Active,Orphanet,ORPHA:225686,Group of disorders,[Category],Peroxisomal disease with epilepsy,,,,,,,,,,, +GARD:20552,Active,Orphanet,ORPHA:225689,Group of disorders,[Category],Amino acid or protein metabolism disease with epilepsy,,,,,,,,,,, +GARD:20553,Active,Orphanet,ORPHA:225692,Group of disorders,[Category],Metal transport or utilization disorder with epilepsy,,,,,,,,,,, +GARD:20554,Active,Orphanet,ORPHA:225696,Group of disorders,[Category],Energy metabolism disorder with epilepsy,,,,,,,,,,, +GARD:20555,Active,Orphanet,ORPHA:225700,Group of disorders,[Category],Mitochondrial disease with epilepsy,,,,,,,,,,, +GARD:20556,Active,Orphanet,ORPHA:225703,Group of disorders,[Category],Mitochondrial disease with peripheral neuropathy,,,,,,,,,,, +GARD:20557,Active,Orphanet,ORPHA:225707,Group of disorders,[Category],Metabolic neurotransmission anomaly with epilepsy,,,,,,,,,,, +GARD:20558,Active,Orphanet,ORPHA:225710,Group of disorders,[Category],Sterol metabolism disorder with epilepsy,,,,,,,,,,, +GARD:20559,Active,Orphanet,ORPHA:225713,Group of disorders,[Category],Other metabolic disease with epilepsy,,,,,,,,,,, +GARD:2056,Active,Orphanet,ORPHA:189,Disorder,[Disease],Hidrotic ectodermal dysplasia,[Clouston syndrome],"Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.",[129500],,,,,Clouston syndrome,TRUE,FALSE,Active +GARD:20560,Active,Orphanet,ORPHA:226292,Group of disorders,[Category],Permanent congenital hypothyroidism,,"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth.",,,,,,,,, +GARD:20561,Active,Orphanet,ORPHA:226295,Group of disorders,[Clinical group],Primary congenital hypothyroidism,,"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.",,,,,,,,, +GARD:20562,Active,Orphanet,ORPHA:226307,Disorder,[Disease],Hypothyroidism due to deficient transcription factors involved in pituitary development or function,,"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.",,,,,,,,, +GARD:20563,Active,Orphanet,ORPHA:226313,Disorder,[Disease],Congenital hypothyroidism due to maternal intake of antithyroid drugs,,"Congenital hypothyroidism due to maternal intake of antithyroid drugs is a rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.",,,,,,,,, +GARD:20564,Active,Orphanet,ORPHA:226316,Disorder,[Disease],Genetic transient congenital hypothyroidism,,"Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.",,,,,,,,, +GARD:20565,Active,Orphanet,ORPHA:227510,Subtype of disorder,[Clinical subtype],"Multiple system atrophy, cerebellar type","[MSA, cerebellar type, MSA-c, Sporadic OPCA type 1, Sporadic olivopontocerebellar atrophy type 1]","Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).",,,,,,,,, +GARD:20566,Active,Orphanet,ORPHA:227972,Disorder,[Disease],Toxic oil syndrome,,"Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.",,,,,,,,, +GARD:20567,Active,Orphanet,ORPHA:227990,Disorder,[Disease],Autoimmune polyendocrinopathy type 4,"[APS type 4, APS4, Autoimmune polyendocrine syndrome type 4, Autoimmune polyglandular syndrome type 4]","A rare autoimmune polyendocrinopathy characterized by autoimmune activity against an endocrine organ in combination with at least one more endocrine or non-endocrine organ. Typical autoimmune diseases occurring in this type include insulin-requiring diabetes, pernicious anemia, alopecia, vitiligo, or myasthenia gravis, but not Addison disease, thyroid disease, or hypoparathyroidism.",,,,,,,,, +GARD:20568,Active,Orphanet,ORPHA:228113,Disorder,[Particular clinical situation in a disease or syndrome],Anal fistula,,"A rare intestinal condition characterized by an abnormal communication between the lower rectum and the perianal skin, which usually develops after an acute perianal abscess. A fistulous traject may be established on either side of the anus (never in the midline) and mucous or fecal discharge can appear. The skin around the external orifice can be irritated. Males are more often affected than females.",,,,,,,,, +GARD:20569,Active,Orphanet,ORPHA:228116,Disorder,[Disease],Hughes-Stovin syndrome,,"Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD; see this term). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.",,,,,,,,, +GARD:2057,Active,Orphanet,ORPHA:248,Subtype of disorder,[Etiological subtype],Autosomal recessive hypohidrotic ectodermal dysplasia,"[AR-HED, Autosomal recessive anhidrotic ectodermal dysplasia]",,"[224900, 614941, 618535]",,,,,Hypohidrotic ectodermal dysplasia autosomal recessive,TRUE,FALSE,Active +GARD:20570,Active,Orphanet,ORPHA:228119,Disorder,[Disease],Fusariosis,[Fusarium infection],"Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.",,,,,,,,, +GARD:20571,Active,Orphanet,ORPHA:228145,Group of disorders,[Category],Multiple sclerosis variant,,,,,,,,,,, +GARD:20572,Active,Orphanet,ORPHA:228157,Disorder,[Disease],Marburg acute multiple sclerosis,"[Acute multiple sclerosis, Marburg type, Acute multiple sclerosis, Marburg variant]","Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.",,,,,,,,, +GARD:20573,Active,Orphanet,ORPHA:228184,Group of disorders,[Category],Heart-hand syndrome,[Atriodigital dysplasia],"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms).",,,,,,,,, +GARD:20574,Active,Orphanet,ORPHA:228215,Group of disorders,[Category],Genetic dermis elastic tissue disorder,,,,,,,,,,, +GARD:20575,Active,Orphanet,ORPHA:228218,Group of disorders,[Category],Acquired dermis elastic tissue disorder,,,,,,,,,,, +GARD:20576,Active,Orphanet,ORPHA:228221,Group of disorders,[Category],Acquired dermis elastic tissue disorder with decreased elastic tissue,,,,,,,,,,, +GARD:20577,Active,Orphanet,ORPHA:228224,Group of disorders,[Category],Acquired dermis elastic tissue disorder with increased elastic tissue,,,,,,,,,,, +GARD:20578,Active,Orphanet,ORPHA:228227,Disorder,[Disease],Late-onset focal dermal elastosis,"[PXE-like late-onset focal dermal elastosis, Pseudoxanthoma-like late-onset focal dermal elastosis]","Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.",,,,,,,,, +GARD:20579,Active,Orphanet,ORPHA:228236,Disorder,[Disease],Linear focal elastosis,"[Elastotic striae, Linear focal dermal elastosis]","Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.",,,,,,,,, +GARD:20580,Active,Orphanet,ORPHA:228243,Disorder,[Disease],Elastofibroma dorsi,,"Elastofibroma dorsi is a rare, acquired, dermis elastic tissue disorder characterized by a benign, slowly progressive, often bilateral, non-encapsulated lesion, usually presenting as an ill-defined mass under the inferior angle of the scapula (but other locations have been reported), which adheres to the deep layers and presents no local signs of inflammation. It is commonly asymptomatic and discovered inadvertently, but symptoms may include pain and discomfort or stiffness when using the shoulder. The presence of a firm mass masked by the scapula during retropulsion of the shoulder and becoming prominent when the shoulder is displaced toward the front is a frequent sign. Neuromuscular involvement of the upper limb may occur in rare cases.",,,,,,,,, +GARD:20581,Active,Orphanet,ORPHA:228247,Disorder,[Disease],Acquired pseudoxanthoma elasticum,"[Acquired Gronblad-Strandberg-Touraine syndrome, Acquired PXE]","A rare acquired dermis elastic tissue disorder characterized by clinical and histopathologic evidence of pseudoxanthoma elasticum in the absence of a family history or specific mutation. Patients present with predominantly cutaneous manifestations consisting of yellowish papules which coalesce into large plaques and are most commonly localized on the neck, axillae, groin, and flexural surfaces. Skin biopsy shows accumulation of clumped, calcified elastic fibers in the mid-dermis. Reported underlying factors include previous liver transplantation, exposure to penicillamine, or concomitant beta-thalassemia.",,,,,,,,, +GARD:20582,Active,Orphanet,ORPHA:228254,Disorder,[Disease],Elastoma,"[Juvenile elastoma without osteopoikilosis, Nevus elasticus, Weidman juvenile elastoma]","A rare, genetic or acquired, dermis elastic tissue disorder characterized by asymptomatic, solitary or multiple, firm, skin-colored to yellowish papules or nodules of variable size that are disseminated or grouped in clusters and typically located on the trunk, buttocks, thighs or face, among others. Histologically, focal increase of thickened, tortuous elastic fibers in the reticular dermis, without signs of degeneration, is reported. Isolated cases, as well as cases associated with osteopoikilosis (Buschke-Ollendorf syndrome), may be observed.",,,,,,,,, +GARD:20583,Active,Orphanet,ORPHA:228264,Disorder,[Disease],Papular elastorrhexis,,"A rare, acquired, dermis elastic tissue disorder characterized by multiple, asymptomatic, firm, well-demarcated, nonfollicular, hypopigmented or skin-colored papules, with a diameter of less than 1 cm, distributed symmetrically over trunk and/or proximal limbs (rarely, head, neck, shoulders, armpits, thighs), with no extracutaneous manifestations. Histopathology typically reveals decreased and fragmented elastic fibers, thickened and/or homogenized collagen bundles and, in some, a mild, perivascular, lymphocytic infiltrate in the dermis.",,,,,,,,, +GARD:20584,Active,Orphanet,ORPHA:228272,Disorder,[Disease],Primary anetoderma,[Primary macular atrophy],Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.,,,,,,,,, +GARD:20585,Active,Orphanet,ORPHA:228277,Disorder,[Disease],Familial anetoderma,"[Hereditary anetoderma, Hereditary macular atrophy]",Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.,,,,,,,,, +GARD:20586,Active,Orphanet,ORPHA:228285,Disorder,[Disease],Acquired cutis laxa,[Cutis laxa acquisita],,,,,,,,,, +GARD:20587,Active,Orphanet,ORPHA:228290,Disorder,[Disease],White fibrous papulosis of the neck,,"White fibrous papulosis of the neck is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.",,,,,,,,, +GARD:20588,Active,Orphanet,ORPHA:228293,Disorder,[Disease],Pseudoxanthoma elasticum-like papillary dermal elastolysis,[PXE-like papillary dermal elastolysis],"Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.",,,,,,,,, +GARD:20589,Active,Orphanet,ORPHA:228299,Disorder,[Disease],Mid-dermal elastolysis,,"A rare, acquired, dermis elastic tissue disease characterized by asymptomatic, well-demarcated, symmetric patches and/or plaques of finely wrinkled skin arranged parallel to skin cleavage lines (type I), associated with perifollicular papular protrusions (type II) or with persistent reticular erythema (type III), occurring predominantly on the shoulders, trunk, back, and proximal extremities, associating, on histopathology, a selective loss of elastic tissue in the midreticular dermis. Erythema and/or urticaria may or may not precede wrinkly lesions.",,,,,,,,, +GARD:20590,Active,Orphanet,ORPHA:228312,Group of disorders,[Clinical group],"Autoimmune hemolytic anemia, cold type","[Cold AIHA, cAHA, cAIHA]","Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH; see these terms).",,,,,,,,, +GARD:20591,Active,Orphanet,ORPHA:228371,Subtype of disorder,[Clinical subtype],Foodborne botulism,[Intoxication botulism],"Foodborne botulism is the most common form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.",,,,,,,,, +GARD:20592,Active,Orphanet,ORPHA:228379,Disorder,[Disease],Virus-associated trichodysplasia spinulosa,"[Cyclosporine-induced folliculodystrophy, Pilomatrix dysplasia, TS, Trichodysplasia spinulosa, VATS]","Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.",,,,,,,,, +GARD:20593,Active,Orphanet,ORPHA:228396,Disorder,[Malformation syndrome],Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome,,"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.",,,,,,,,, +GARD:20594,Active,Orphanet,ORPHA:228410,Disorder,[Malformation syndrome],Polyvalvular heart disease syndrome,[PHD syndrome],"A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay.",,,,,,,,, +GARD:20595,Active,Orphanet,ORPHA:228415,Disorder,[Malformation syndrome],5q35 microduplication syndrome,"[Dup(5)(q35), Trisomy 5q35]","The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.",,,,,,,,, +GARD:20596,Active,Orphanet,ORPHA:229720,Group of disorders,[Category],Syndromic agammaglobulinemia,,,,,,,,,,, +GARD:20597,Active,Orphanet,ORPHA:230800,Subtype of disorder,[Clinical subtype],Toxin-mediated infectious botulism,[Toxin-mediated infective botulism],"Infectious botulism is a form of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism; see these terms).",,,,,,,,, +GARD:20598,Active,Orphanet,ORPHA:231080,Disorder,[Particular clinical situation in a disease or syndrome],High-grade dysplasia in patients with Barrett esophagus,,,,,,,,,,, +GARD:20599,Active,Orphanet,ORPHA:231111,Disorder,[Disease],Drug-induced lupus erythematosus,[DILE],"A rare, systemic disease with skin involvement characterized by the onset of idiopathic lupus erythematosus-like signs and symptoms resulting from continuous drug intake (>1 month), which resolve when treatment is discontinued, in persons with no history of autoimmune disease. Manifestations are variable and may be systemic (e.g. arthralgia, myalgia, fever, fatigue, serositis, pleuritis, pericarditis), subacute cutaneous (incl. photosensitive, non-scarring, annular, polycyclic or papulosquamous lesions, malar erythema, vasculitis, bullous lesions, erythema multiforme-like changes), and/or chronic cutaneous (typically discoid lesions in sun-exposed areas). Procainamide and hydralazine are the drugs most frequently implicated.",,,,,,,,, +GARD:206,Active,Orphanet,ORPHA:655,Disorder,[Disease],Nephronophthisis,,"A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.","[606966, 614377, 615382, 615862, 617271, 602088, 613159, 613820, 613824, 611498, 256100, 604387]",,,,,Nephronophthisis,TRUE,FALSE,Active +GARD:2060,Active,Orphanet+OMIM,OMIM:225100,Subtype of disorder,[Malformation syndrome subtype],"Ectopia lentis 2, isolated, autosomal recessive",,"Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment ({6:Greene et al., 2010}).\n\nAn autosomal dominant form of isolated ectopia lentis (ECTOL1; {129600}) is caused by mutation in the FBN1 gene ({134797}).\n\nEctopia lentis is a hallmark of several well-known syndromes, e.g., Marfan syndrome ({154700}), Weill-Marchesani syndrome (see {277600}), and homocystinuria ({236200}).",[225100],[1885],[Isolated ectopia lentis],[12251],,"Ectopia lentis, isolated autosomal recessive",TRUE,FALSE,Active +GARD:20600,Active,Orphanet,ORPHA:231117,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,,,,,,,,,,, +GARD:20601,Active,Orphanet,ORPHA:231127,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to 11p15 microdeletion,,,,,,,,,,, +GARD:20602,Active,Orphanet,ORPHA:231130,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion,,,,,,,,,,, +GARD:20603,Active,Orphanet,ORPHA:231137,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to 7p11.2p13 microduplication,"[Silver-Russell syndrome due to 7p11.2-p13 microduplication, Silver-Russell syndrome due to dup(7)(p11.2p13), Silver-Russell syndrome due to trisomy 7p11.2-p13, Silver-Russell syndrome due to trisomy 7p11.2p13]",,,,,,,,,, +GARD:20604,Active,Orphanet,ORPHA:231140,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to an imprinting defect of 11p15,,,,,,,,,,, +GARD:20605,Active,Orphanet,ORPHA:231144,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to 11p15 microduplication,,,,,,,,,,, +GARD:20606,Active,Orphanet,ORPHA:231147,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11,[UPD(11)mat],,,,,,,,,, +GARD:20607,Active,Orphanet,ORPHA:231230,Group of disorders,[Category],Beta-thalassemia associated with another hemoglobin anomaly,[Beta-thalassemia associated with another Hb anomaly],"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)].",,,,,,,,, +GARD:20608,Active,Orphanet,ORPHA:231242,Disorder,[Disease],Hemoglobin C-beta-thalassemia syndrome,"[C-beta-thalassemia, HbC-beta-thalassemia syndrome]",Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.,,,,,,,,, +GARD:20609,Active,Orphanet,ORPHA:231249,Disorder,[Disease],Hemoglobin E-beta-thalassemia syndrome,"[E-beta-thalassemia, HbE-beta-thalassemia syndrome]",Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).,,,,,,,,, +GARD:20610,Active,Orphanet,ORPHA:231386,Group of disorders,[Category],Beta-thalassemia with other manifestations,,Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder.,,,,,,,,, +GARD:20611,Active,Orphanet,ORPHA:231413,Group of disorders,[Category],Variant of Guillain-Barré syndrome,[Variant of GBS],,,,,,,,,, +GARD:20612,Active,Orphanet,ORPHA:231416,Group of disorders,[Clinical group],Regional variant of Guillain-Barré syndrome,[Regional variant of GBS],,,,,,,,,, +GARD:20613,Active,Orphanet,ORPHA:231419,Group of disorders,[Clinical group],Functional variant of Guillain-Barré syndrome,[Functional variant of GBS],,,,,,,,,, +GARD:20614,Active,Orphanet,ORPHA:231426,Disorder,[Disease],Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome,"[PCB variant of GBS, PCB variant of Guillain-Barré syndrome, Pharyngeal-cervical-brachial weakness, Pharyngo-cervico-brachial variant of GBS, Pharyngo-cervico-brachial variant of Guillain-Barré syndrome]","Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome is a rare, acquired peripheral neuropathy disease characterized by rapidly progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia, in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated.",,,,,,,,, +GARD:20615,Active,Orphanet,ORPHA:231445,Disorder,[Disease],Paraparetic variant of Guillain-Barré syndrome,[Paraparetic variant of GBS],"Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.",,,,,,,,, +GARD:20616,Active,Orphanet,ORPHA:231450,Disorder,[Disease],Acute pure sensory neuropathy,"[Acute pure sensory GBS, Acute pure sensory Guillain-Barré syndrome]","A rare, acquired, demyelinating neuropathy disease characterized by acute, symmetric, monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia, and unsteady gait, as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense.",,,,,,,,, +GARD:20617,Active,Orphanet,ORPHA:231457,Disorder,[Disease],Acute pandysautonomia,"[Acute panautonomic GBS, Acute panautonomic Guillain-Barré syndrome, Acute panautonomic neuropathy]","A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.",,,,,,,,, +GARD:20618,Active,Orphanet,ORPHA:231466,Disorder,[Disease],Acute sensory ataxic neuropathy,"[ASAN, Acute sensory ataxic GBS, Acute sensory ataxic Guillain-Barré syndrome]","A rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.",,,,,,,,, +GARD:20619,Active,Orphanet,ORPHA:231573,Disorder,[Disease],Congenital erosive and vesicular dermatosis,"[CEVD, Congenital erosive and vesicular dermatosis with reticulated supple scarring]","Congenital erosive and vesicular dermatosis is a rare, idiopathic skin disease characterized by widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohydrosis. Nail anomalies, neurodevelopmental and ophtalmologic abnormalities, tongue atrophy and preterm birth, with or without history of choriomnionitis, are commonly associated.",,,,,,,,, +GARD:20620,Active,Orphanet,ORPHA:231580,Disorder,[Disease],Primary unilateral adrenal hyperplasia,[PUAH],"Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA; see this term) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.",,,,,,,,, +GARD:20621,Active,Orphanet,ORPHA:231625,Disorder,[Disease],Adrenocortical carcinoma with pure aldosterone hypersecretion,"[Pure APAC, Pure aldosterone-producing adrenocortical carcinoma, Pure aldosterone-secreting adrenocortical carcinoma]",A very rare surgically-correctable form of primary aldosteronism (PA) due to an aldosterone-secreting adrenal malignancy.,,,,,,,,, +GARD:20622,Active,Orphanet,ORPHA:231632,Disorder,[Disease],Ectopic aldosterone-producing tumor,[Extra-adrenal aldosterone-producing tumor],"Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.",,,,,,,,, +GARD:20623,Active,Orphanet,ORPHA:231637,Group of disorders,[Category],Rare surgically correctable form of primary aldosteronism,,"Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism; see this term) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia.",,,,,,,,, +GARD:20624,Active,Orphanet,ORPHA:231641,Group of disorders,[Category],Rare non surgically correctable form of primary aldosteronism,,,,,,,,,,, +GARD:20625,Active,Orphanet,ORPHA:231742,Disorder,[Malformation syndrome],Epibulbar lipodermoid-preauricular appendage-polythelia syndrome,,"Epibulbar lipodermoid – preauricular appendages – polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.",,,,,,,,, +GARD:20626,Active,Orphanet,ORPHA:232035,Group of disorders,[Category],Infectious embryofetopathy,,,,,,,,,,, +GARD:20627,Active,Orphanet,ORPHA:232288,Group of disorders,[Category],Syndrome with alpha-thalassemia as a major feature,,"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).",,,,,,,,, +GARD:20628,Active,Orphanet,ORPHA:233655,Group of disorders,[Category],Rare genetic vascular disease,,,,,,,,,,, +GARD:20629,Active,Orphanet,ORPHA:235832,Group of disorders,[Clinical group],Congenital vascular bone syndrome,,,,,,,,,,, +GARD:2063,Legacy,GARD,,,,,,,,,,,,Ectrodactyly cardiopathy dysmorphism,TRUE,FALSE,Active +GARD:20630,Active,Orphanet,ORPHA:235936,Group of disorders,[Clinical group],Familial hyperaldosteronism,[FH],"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.",,,,,,,,, +GARD:20631,Active,Orphanet,ORPHA:238269,Subtype of disorder,[Clinical subtype],AApoAII amyloidosis,"[Apolipoprotein A-II amyloidosis, Familial amyloid nephropathy due to apolipoprotein A-II variant, Familial renal amyloidosis due to apolipoprotein A-II variant, Hereditary amyloid nephropathy due to apolipoprotein A-II variant, Hereditary renal amyloidosis due to apolipoprotein A-II variant]","A rare hereditary amyloidosis with primary renal involvement characterized by variable onset of renal insufficiency with edema, hypertension, proteinuria, and azotemia, eventually leading to end-stage renal disease. Amyloid cardiomyopathy and histopathological evidence of amyloid deposition in other organs, such as the spleen, liver, adrenal glands, and pancreas, among others, have also been described.",,,,,,,,, +GARD:20632,Active,Orphanet,ORPHA:238305,Disorder,[Disease],Infundibulo-neurohypophysitis,,"Infundibulo-neurohypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism.",,,,,,,,, +GARD:20633,Active,Orphanet,ORPHA:238510,Group of disorders,[Clinical group],Lymphoproliferative syndrome,,,,,,,,,,, +GARD:20634,Active,Orphanet,ORPHA:238517,Group of disorders,[Clinical group],Hypotonia-cystinuria type 1 syndrome,,,,,,,,,,, +GARD:20635,Active,Orphanet,ORPHA:238536,Group of disorders,[Category],Congenital secondary polycythemia,[Congenital secondary erythrocytosis],,,,,,,,,, +GARD:20636,Active,Orphanet,ORPHA:238547,Group of disorders,[Category],Acquired secondary polycythemia,[Acquired secondary erythrocytosis],,,,,,,,,, +GARD:20637,Active,Orphanet,ORPHA:238621,Disorder,[Particular clinical situation in a disease or syndrome],Ileal pouch anal anastomosis related faecal incontinence,,"A rare intestinal disorder characterized by the inability to control the passage of rectal contents (feces, gas) through the anus following ileal pouch-anal anastomosis surgery. Fecal incontinence is usually more frequent during the night than during daytime. The condition generally worsens over time, with a significant negative impact on the quality of life of the patient.",,,,,,,,, +GARD:20638,Active,Orphanet,ORPHA:238637,Disorder,[Disease],Megacystis-megaureter syndrome,[Megaureter-megacystis syndrome],"Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.",,,,,,,,, +GARD:20639,Active,Orphanet,ORPHA:238642,Subtype of disorder,[Clinical subtype],"Primary megaureter, adult-onset form",,,,,,,,,,, +GARD:2064,Legacy,GARD,,,,,,,,,,,,Ectrodactyly cleft palate syndrome,TRUE,FALSE,Retired +GARD:20640,Active,Orphanet,ORPHA:238646,Subtype of disorder,[Clinical subtype],"Congenital primary megaureter, obstructed form",,,,,,,,,,, +GARD:20641,Active,Orphanet,ORPHA:238650,Subtype of disorder,[Clinical subtype],"Congenital primary megaureter, refluxing form",,,,,,,,,,, +GARD:20642,Active,Orphanet,ORPHA:238654,Subtype of disorder,[Clinical subtype],"Congenital primary megaureter, nonrefluxing and unobstructed form",,,,,,,,,,, +GARD:20643,Active,Orphanet,ORPHA:238666,Disorder,[Disease],Isolated congenital hypogonadotropic hypogonadism,"[Gonadotropic deficiency, Isolated congenital gonadotropin deficiency, Isolated gonadotropin-releasing hormone deficiency]","A rare, genetic pituitary hormone deficiency characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This disorder may be associated with a normal (normosmic) or impaired sense of smell (Kallmann syndrome).",,,,,,,,, +GARD:20644,Active,Orphanet,ORPHA:238688,Disorder,[Disease],Neonatal iodine exposure,,"Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.",,,,,,,,, +GARD:20645,Active,Orphanet,ORPHA:238696,Group of disorders,[Category],Transient congenital hypothyroidism due to maternal factor,,,,,,,,,,, +GARD:20646,Active,Orphanet,ORPHA:238699,Group of disorders,[Category],Transient congenital hypothyroidism due to neonatal factor,,,,,,,,,,, +GARD:20647,Active,Orphanet,ORPHA:240094,Subtype of disorder,[Clinical subtype],Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,"[PSP-PAGF, PSP-pure akinesia with gait freezing]","An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by progressive freezing of gait, speech and writing early in the disease course. Later, axial rigidity, and facial immobility can occur, and supranuclear downgaze paresis may emerge after a decade. Neuropathological characteristics include tau pathology and neuronal loss in specific brain areas, especially in the globus pallidus, subthalamic nucleus, and substantia nigra. The tau pathology is less widespread compared to the other PSP sub-types.",,,,,,,,, +GARD:20648,Active,Orphanet,ORPHA:240103,Subtype of disorder,[Clinical subtype],Progressive supranuclear palsy-corticobasal syndrome,"[PSP-CBS, PSP-corticobasal syndrome]","An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by a variable mixture of progressive asymmetric limb rigidity, apraxia, cortical sensory loss, alien limb, dystonia and bradykinesia that is unresponsive to levodopa. Postural instability and axial rigidity develop as the disease progresses. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the midfrontal and inferior parietal cortices.",,,,,,,,, +GARD:20649,Active,Orphanet,ORPHA:240112,Subtype of disorder,[Clinical subtype],Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,"[PSP-AOS, PSP-PNFA, Progressive supranuclear palsy-apraxia of speech syndrome]","An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by an initial presentation of an isolated speech and language disorder (apraxia of speech, agrammatism, and phonemic errors) years before developing other motor features of PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the temporal cortex and superior frontal gyrus.",,,,,,,,, +GARD:20650,Active,Orphanet,ORPHA:240371,Group of disorders,[Category],Syndromic obesity,,,,,,,,,,, +GARD:20651,Active,Orphanet,ORPHA:244275,Disorder,[Particular clinical situation in a disease or syndrome],De novo thrombotic microangiopathy after kidney transplantation,,,,,,,,,,, +GARD:20652,Active,Orphanet,ORPHA:244283,Disorder,[Malformation syndrome],Biliary atresia with splenic malformation syndrome,[BASM syndrome],"Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia (see this term) and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.",,,,,,,,, +GARD:20653,Active,Orphanet,ORPHA:247165,Disorder,[Disease],Infantile mercury poisoning,"[Erythroedema polyneuritis, Feer disease, Infantile acrodynia, Infantile mercury intoxication, Pink disease, Swift disease, Swift-Feer disease]","Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss and insomnia.",,,,,,,,, +GARD:20654,Active,Orphanet,ORPHA:247234,Disorder,[Disease],Sporadic adult-onset ataxia of unknown etiology,"[Idiopathic late-onset cerebellar ataxia, SAOA]","A rare non-hereditary degenerative ataxia disease characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.",,,,,,,,, +GARD:20655,Active,Orphanet,ORPHA:247239,Group of disorders,[Category],Non-hereditary degenerative ataxia,,,,,,,,,,, +GARD:20656,Active,Orphanet,ORPHA:247242,Group of disorders,[Category],Acquired ataxia,,,,,,,,,,, +GARD:20657,Active,Orphanet,ORPHA:247257,Disorder,[Disease],Inhalational anthrax,"[Inhalation anthrax disease, Pulmonary anthrax, Respiratory anthrax, Respiratory anthrax disease]","Inhalational anthrax is a rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.",,,,,,,,, +GARD:20658,Active,Orphanet,ORPHA:247378,Disorder,[Disease],Autosomal recessive secondary polycythemia not associated with VHL gene,"[Autosomal recessive secondary erythrocytosis not associated with VHL gene, Autosomal recessive secondary erythrocytosis, non-Chuvash type, Autosomal recessive secondary polycythemia, non-Chuvash type]","A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.",,,,,,,,, +GARD:20659,Active,Orphanet,ORPHA:247546,Subtype of disorder,[Clinical subtype],Acute neonatal citrullinemia type I,"[Acute neonatal citrullinemia type 1, Classic citrullinemia type 1, Classic citrullinemia type I]","A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.",,,,,,,,, +GARD:20660,Active,Orphanet,ORPHA:247573,Subtype of disorder,[Clinical subtype],Adult-onset citrullinemia type I,"[Adult-onset citrullinemia type 1, Late-onset citrullinemia type 1, Late-onset citrullinemia type I]","A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.",,,,,,,,, +GARD:20661,Active,Orphanet,ORPHA:247582,Group of disorders,[Category],Citrin deficiency,,"A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).",,,,,,,,, +GARD:20662,Active,Orphanet,ORPHA:247638,Subtype of disorder,[Clinical subtype],Prenatal benign hypophosphatasia,"[Prenatal benign Rathbun disease, Prenatal benign phosphoethanolaminuria]",A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.,,,,,,,,, +GARD:20663,Active,Orphanet,ORPHA:247718,Disorder,[Disease],Inflammatory myopathy with abundant macrophages,[IMAM],"A rare idiopathic inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.",,,,,,,,, +GARD:20664,Active,Orphanet,ORPHA:247724,Disorder,[Disease],Idiopathic eosinophilic myositis,[Idiopathic eosinophilia-associated myopathy],"A rare idiopathic inflammatory myopathy characterized by eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue, in the absence of an identifiable causative factor (e.g. parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalized muscle weakness and pain, difficulties to walk, motor clumsiness and/or mild bilateral aquilae retraction, as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia.",,,,,,,,, +GARD:20665,Active,Orphanet,ORPHA:247765,Group of disorders,[Category],X-linked cerebellar ataxia,,,,,,,,,,, +GARD:20666,Active,Orphanet,ORPHA:247815,Disorder,[Disease],Autosomal recessive ataxia due to PEX10 deficiency,[Mild peroxisomal disorder due to PEX10 deficiency],,,,,,,,,, +GARD:20667,Active,Orphanet,ORPHA:248095,Group of disorders,[Clinical group],Primary hypertrophic osteoarthropathy,"[Idiopathic hypertrophic osteoarthropathy, PHO]","Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms).",,,,,,,,, +GARD:20668,Active,Orphanet,ORPHA:248293,Group of disorders,[Category],Rare deficiency anemia,,,,,,,,,,, +GARD:20669,Active,Orphanet,ORPHA:248296,Group of disorders,[Category],Constitutional deficiency anemia,,,,,,,,,,, +GARD:20670,Active,Orphanet,ORPHA:248302,Group of disorders,[Category],Rare acquired deficiency anemia,,,,,,,,,,, +GARD:20671,Active,Orphanet,ORPHA:248308,Group of disorders,[Category],Rare hemorrhagic disorder,[Rare bleeding disorder],,,,,,,,,, +GARD:20672,Active,Orphanet,ORPHA:248315,Group of disorders,[Category],Rare hemorrhagic disorder due to a coagulation factors defect,"[Rare bleeding disorder due to a coagulation factors defect, Rare coagulopathy due to a coagulation factor defect]",,,,,,,,,, +GARD:20673,Active,Orphanet,ORPHA:248326,Group of disorders,[Category],Rare hemorrhagic disorder due to a platelet anomaly,"[Rare bleeding disorder due to a platelet anomaly, Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia, Rare coagulopathy due to a platelet anomaly, Rare coagulopathy due to a thrombopathy and/or thrombocytopenia, Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia]",,,,,,,,,, +GARD:20674,Active,Orphanet,ORPHA:248340,Disorder,[Disease],Isolated delta-storage pool disease,"[Isolated delta-SPD, Isolated dense-SPD, Isolated dense-storage pool disease]","Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.",,,,,,,,, +GARD:20675,Active,Orphanet,ORPHA:248347,Group of disorders,[Category],Rare hemorrhagic disorder due to an acquired platelet anomaly,"[Rare bleeding disorder due to an acquired platelet anomaly, Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia, Rare coagulopathy due to an acquired platelet anomaly, Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia, Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia]",,,,,,,,,, +GARD:20676,Active,Orphanet,ORPHA:248358,Group of disorders,[Category],Rare thrombotic disorder due to a coagulation factors defect,,,,,,,,,,, +GARD:20677,Active,Orphanet,ORPHA:248361,Group of disorders,[Category],Rare thrombotic disorder due to a constitutional coagulation factors defect,,,,,,,,,,, +GARD:20678,Active,Orphanet,ORPHA:248365,Group of disorders,[Category],Rare thrombotic disorder due to an acquired coagulation factors defect,,,,,,,,,,, +GARD:20679,Active,Orphanet,ORPHA:248368,Group of disorders,[Category],Rare thrombotic disorder due to a platelet anomaly,,,,,,,,,,, +GARD:2068,Active,Orphanet,ORPHA:1892,Disorder,[Malformation syndrome],Ectrodactyly-polydactyly syndrome,,"Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.",[225290],,,,,Ectrodactyly polydactyly,TRUE,FALSE,Active +GARD:20680,Active,Orphanet,ORPHA:248401,Group of disorders,[Category],Rare thrombotic disorder due to a constitutional platelet anomaly,,,,,,,,,,, +GARD:20681,Active,Orphanet,ORPHA:248404,Group of disorders,[Category],Rare thrombotic disorder due to an acquired platelet anomaly,,,,,,,,,,, +GARD:20682,Active,Orphanet,ORPHA:250165,Group of disorders,[Category],Genetic polycythemia,,,,,,,,,,, +GARD:20683,Active,Orphanet,ORPHA:250805,Group of disorders,[Category],Serpinopathy,,,,,,,,,,, +GARD:20684,Active,Orphanet,ORPHA:250808,Group of disorders,[Category],Serpinopathy with toxic serpin polymerization,,,,,,,,,,, +GARD:20685,Active,Orphanet,ORPHA:250811,Group of disorders,[Category],Serpinopathy with loss of serpin function,,,,,,,,,,, +GARD:20686,Active,Orphanet,ORPHA:250932,Disorder,[Disease],Autosomal dominant optic atrophy and peripheral neuropathy,,"A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.",,,,,,,,, +GARD:20687,Active,Orphanet,ORPHA:250972,Disorder,[Malformation syndrome],Polymicrogyria with optic nerve hypoplasia,,"Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.",,,,,,,,, +GARD:20688,Active,Orphanet,ORPHA:251004,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 1,[UPD(1)pat],Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.,,,,,,,,, +GARD:20689,Active,Orphanet,ORPHA:251009,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 1,[UPD(1)mat],Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:20690,Active,Orphanet,ORPHA:251014,Disorder,[Malformation syndrome],2q31.1 microdeletion syndrome,"[Del(2)(q31.1), Monosomy 2q31.1]","2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.",,,,,,,,, +GARD:20691,Active,Orphanet,ORPHA:251046,Disorder,[Malformation syndrome],6p22 microdeletion syndrome,"[Del(6)(p22), Monosomy 6p22]","6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.",,,,,,,,, +GARD:20692,Active,Orphanet,ORPHA:251061,Disorder,[Malformation syndrome],7q31 microdeletion syndrome,"[Del(7)(q31), Monosomy 7q31]","7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.",,,,,,,,, +GARD:20693,Active,Orphanet,ORPHA:251066,Disorder,[Malformation syndrome],8p11.2 deletion syndrome,"[Del(8)(p11.2), Monosomy 8p11.2]","8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.",,,,,,,,, +GARD:20694,Active,Orphanet,ORPHA:251304,Disorder,[Disease],Infantile onset panniculitis with uveitis and systemic granulomatosis,,"Infantile onset panniculitis with uveitis and systemic granulomatosis is a rare granulomatous autoinflammatroy disease characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.",,,,,,,,, +GARD:20695,Active,Orphanet,ORPHA:251307,Disorder,[Disease],Idiopathic recurrent pericarditis,[Idiopathic relapsing pericarditis],"Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.",,,,,,,,, +GARD:20696,Active,Orphanet,ORPHA:251312,Group of disorders,[Clinical group],Overlapping connective tissue disease,,,,,,,,,,, +GARD:20697,Active,Orphanet,ORPHA:251325,Disorder,[Disease],Drug-induced vasculitis,,"A rare secondary vasculitis characterized by an inflammation of blood vessels caused by various pharmaceutical agents, including certain antibiotics, anti-tumor necrosis factor-alpha agents, and psychoactive agents, among others. The skin is most commonly affected, but other tissues and organs, such as the subcutis, kidneys, or lungs may also be involved. Systemic disease develops only in a minority of patients treated with the causative drug over a prolonged period of time. Typical presenting signs and symptoms include skin rash, myalgia, arthralgia, fever, and malaise.",,,,,,,,, +GARD:20698,Active,Orphanet,ORPHA:251328,Disorder,[Disease],Unclassified vasculitis,,"A rare vasculitis characterized by an inflammatory disease of blood vessels which cannot be assigned to any of the known categories of vasculitis. Clinical features are highly variable, depending on the nature and extent of the inflammatory process, as well as the type of vessels and organ systems involved.",,,,,,,,, +GARD:20699,Active,Orphanet,ORPHA:251332,Disorder,[Disease],Unexplained long-lasting fever/inflammatory syndrome,[Persistent fever/inflammation of unknown origin],A rare systemic disease characterized by febrile illness (body temperature >38.3°C on several occasions) or inflammation (elevated serum C-reactive protein and erythrocyte sedimentation rate) lasting at least three weeks and for which no specific diagnosis is achieved despite extended diagnostics.,,,,,,,,, +GARD:207,Active,Orphanet,ORPHA:284,Disorder,[Disease],Alveolar echinococcosis,[Echinococcus multilocularis infection],A rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis and characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.,,,,,,Alveolar echinococcosis,TRUE,FALSE,Active +GARD:20700,Active,Orphanet,ORPHA:251375,Disorder,[Disease],Sickle cell-hemoglobin E disease syndrome,[HbSE disease],"A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).",,,,,,,,, +GARD:20701,Active,Orphanet,ORPHA:251529,Group of disorders,[Category],Toxic or drug-related embryofetopathy,,,,,,,,,,, +GARD:20702,Active,Orphanet,ORPHA:251535,Group of disorders,[Category],Maternal disease-related embryofetopathy,,,,,,,,,,, +GARD:20703,Active,Orphanet,ORPHA:251558,Group of disorders,[Category],Rare tumor of neuroepithelial tissue,,,,,,,,,,, +GARD:20704,Active,Orphanet,ORPHA:251561,Group of disorders,[Clinical group],High-grade astrocytoma,,,,,,,,,,, +GARD:20705,Active,Orphanet,ORPHA:251579,Subtype of disorder,[Histopathological subtype],Giant cell glioblastoma,,,,,,,,,,, +GARD:20706,Active,Orphanet,ORPHA:251592,Group of disorders,[Clinical group],Low-grade astrocytoma,,,,,,,,,,, +GARD:20707,Active,Orphanet,ORPHA:251598,Subtype of disorder,[Histopathological subtype],Protoplasmic astrocytoma,,,,,,,,,,, +GARD:20708,Active,Orphanet,ORPHA:251601,Subtype of disorder,[Histopathological subtype],Fibrillary astrocytoma,,,,,,,,,,, +GARD:20709,Active,Orphanet,ORPHA:251604,Subtype of disorder,[Histopathological subtype],Gemistocytic astrocytoma,,,,,,,,,,, +GARD:2071,Active,Orphanet,ORPHA:1997,Disorder,[Malformation syndrome],Blepharo-cheilo-odontic syndrome,"[BCD syndrome, Blepharocheilodontic syndrome, Clefting-ectropion-conical teeth syndrome, Ectropion inferior-cleft lip and/or palate syndrome, Elschnig syndrome, Lagophthalmia-cleft lip and palate syndrome]","A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.","[119580, 617681]",,,,,Blepharo-cheilo-odontic syndrome,TRUE,FALSE,Active +GARD:20710,Active,Orphanet,ORPHA:251615,Subtype of disorder,[Histopathological subtype],Pilomyxoid astrocytoma,,,,,,,,,,, +GARD:20711,Active,Orphanet,ORPHA:251623,Disorder,[Disease],Pituicytoma,,"A rare glial tumor originating from pituicytes, the specialized glial cells of the neurohypophysis, characterized by a sellar or suprasellar mass manifesting with clinical signs secondary to mass effect. Typical manifestations are visual disturbances, headaches, and hypopituitarism. Pituicytomas are low-grade tumors, and prognosis is good after total resection.",,,,,,,,, +GARD:20712,Active,Orphanet,ORPHA:251651,Group of disorders,[Clinical group],Oligoastrocytic tumor,[Mixed oligodendroglial and astrocytic tumor],,,,,,,,,, +GARD:20713,Active,Orphanet,ORPHA:251668,Group of disorders,[Clinical group],Glial tumor of neuroepithelial tissue with unknown origin,,,,,,,,,,, +GARD:20714,Active,Orphanet,ORPHA:251671,Disorder,[Disease],Angiocentric glioma,,"An extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.",,,,,,,,, +GARD:20715,Active,Orphanet,ORPHA:251674,Disorder,[Disease],Chordoid glioma,,"Chordoid glioma is an extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity.",,,,,,,,, +GARD:20716,Active,Orphanet,ORPHA:251852,Group of disorders,[Category],Embryonal tumor of neuroepithelial tissue,,,,,,,,,,, +GARD:20717,Active,Orphanet,ORPHA:251855,Subtype of disorder,[Histopathological subtype],Anaplastic/large cell medulloblastoma,,"A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia.",,,,,,,,, +GARD:20718,Active,Orphanet,ORPHA:251870,Group of disorders,[Clinical group],Central nervous system embryonal tumor,"[CNS PNET, Central nervous system primitive neuroectodermal tumor]",,,,,,,,,, +GARD:20719,Active,Orphanet,ORPHA:251877,Disorder,[Disease],Ganglioneuroblastoma,,"Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET; see this term), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome (see this term), depending on the location of the tumor.",,,,,,,,, +GARD:20720,Active,Orphanet,ORPHA:251880,Disorder,[Disease],Ependymoblastoma,,Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.,,,,,,,,, +GARD:20721,Active,Orphanet,ORPHA:251883,Disorder,[Disease],Medulloepithelioma of the central nervous system,,"Medulloepithelioma of the central nervous system is a rare, primitive neuroectodermal tumor characterized by papillary, tubular and trabecular arrangements of neoplastic neuroepithelium, mimicking the embryonic neural tube, most commonly found in the periventricular region within the cerebral hemispheres, but has also been reported in brainstem and cerebellum. It usually presents in childhood with headache, nausea, vomiting, facial nerve paresis, and/or cerebellar ataxia, and typically has a progressive course, highly malignant behavior and poor prognosis. Hearing and visual loss have also been observed.",,,,,,,,, +GARD:20722,Active,Orphanet,ORPHA:251896,Group of disorders,[Clinical group],Choroid plexus tumor,,,,,,,,,,, +GARD:20723,Active,Orphanet,ORPHA:251902,Disorder,[Disease],Atypical papilloma of choroid plexus,"[Atypical CPP, Atypical choroid plexus papilloma]","A very rare type of choroid plexus tumor that, contrary to papilloma of the choroid plexus, has an increased likelihood of progression to carcinoma and of recurrence. It displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern, and cell necrosis.",,,,,,,,, +GARD:20724,Active,Orphanet,ORPHA:251905,Group of disorders,[Clinical group],Pineal tumor of neuroepithelial tissue,,,,,,,,,,, +GARD:20725,Active,Orphanet,ORPHA:251915,Disorder,[Disease],Papillary tumor of the pineal region,[PTPR],"Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.",,,,,,,,, +GARD:20726,Active,Orphanet,ORPHA:251924,Group of disorders,[Clinical group],Neuronal tumor,,,,,,,,,,, +GARD:20727,Active,Orphanet,ORPHA:251927,Disorder,[Disease],Extraventricular neurocytoma,[EVN],"Extraventricular neurocytoma (EVN), a variant of central neurocytoma (see this term), is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.",,,,,,,,, +GARD:20728,Active,Orphanet,ORPHA:251934,Group of disorders,[Clinical group],Mixed neuronal-glial tumor,,,,,,,,,,, +GARD:20729,Active,Orphanet,ORPHA:251940,Disorder,[Disease],Desmoplastic infantile astrocytoma/ganglioglioma,[DIA/DIG],"Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.",,,,,,,,, +GARD:20730,Active,Orphanet,ORPHA:251962,Disorder,[Disease],Papillary glioneuronal tumor,"[PGNT, Pseudopapillary ganglioglioneurocytoma, Pseudopapillary neurocytoma with glial differentiation]","A rare mixed neuronal-glial tumor characterized by a supratentorial space-occupying lesion in periventricular location, often with prominent cystic change. The histological hallmark of this low-grade neoplasm is its pseudopapillary appearance with a single layer of cuboidal cells around hyalinized blood vessels, associated with sheets or focal collections of neuronal cells. Clinical presentation is variable and non-specific, most frequently with headache and seizures. Prognosis is favorable after complete resection.",,,,,,,,, +GARD:20731,Active,Orphanet,ORPHA:251992,Disorder,[Disease],Ganglioneuroma,,"Ganglioneuroma is a rare tumor of neuroepithelial tissue, a benign and well-differentiated tumor of neural crest origin, arising from the sympathetic nervous system and composed of ganglion cells and stromal Schwann cells. It can arise anywhere from the base of the skull to the pelvis, with the most frequent locations being the adrenal glands, retroperitoneum, posterior mediastinum and the pelvis, or, in rare cases, the central nervous system, heart, bones, intestine or other sites. It may be asymptomatic or present with various symptoms due to mass effect. Association with neurofibromatosis type I, multiple endocrine neoplasia type 2B and Turner syndrome was reported.",,,,,,,,, +GARD:20732,Active,Orphanet,ORPHA:251995,Group of disorders,[Category],Primary germ cell tumor of central nervous system,[Primary germ cell tumor of CNS],,,,,,,,,, +GARD:20733,Active,Orphanet,ORPHA:252006,Subtype of disorder,[Clinical subtype],Yolk sac tumor of central nervous system,"[Endodermal sinus tumor of CNS, Endodermal sinus tumor of central nervous system, Intracranial endodermal sinus tumor, Intracranial yolk sac tumor, Yolk sac tumor of CNS]",,,,,,,,,, +GARD:20734,Active,Orphanet,ORPHA:252015,Disorder,[Disease],Choriocarcinoma of the central nervous system,,"A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor.",,,,,,,,, +GARD:20735,Active,Orphanet,ORPHA:252018,Subtype of disorder,[Clinical subtype],Teratoma of the central nervous system,,,,,,,,,,, +GARD:20736,Active,Orphanet,ORPHA:252021,Subtype of disorder,[Clinical subtype],Mixed germ cell tumor of central nervous system,[Mixed germ cell tumor of CNS],,,,,,,,,, +GARD:20737,Active,Orphanet,ORPHA:252025,Group of disorders,[Category],Tumor of meninges,,,,,,,,,,, +GARD:20738,Active,Orphanet,ORPHA:252028,Group of disorders,[Category],Primary melanocytic tumor of central nervous system,"[Primary melanocytic lesion of CNS, Primary melanocytic lesion of central nervous system, Primary melanocytic tumor of CNS]",,,,,,,,,, +GARD:20739,Active,Orphanet,ORPHA:252031,Disorder,[Disease],Diffuse leptomeningeal melanocytosis,"[DLM, Leptomeningeal melanomatosis]","Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.",,,,,,,,, +GARD:2074,Active,Orphanet,ORPHA:1895,Disorder,[Malformation syndrome],Edinburgh malformation syndrome,[Typus Edinburgensis],"Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.",[129850],,,,,Edinburgh malformation syndrome,TRUE,FALSE,Active +GARD:20740,Active,Orphanet,ORPHA:252046,Disorder,[Disease],Meningeal melanocytoma,,"A rare nervous system tumor characterized by a benign pigmented space-occupying lesion derived from leptomeningeal melanocytes. Symptoms typically show insidious onset and are related to the mass effect on adjacent tissues. Depending on the location of the tumor, they include focal neurological deficits, increased intracranial pressure, seizures, and spinal cord compression, among others. Although the tumor may behave aggressively, prognosis is good after complete surgical resection.",,,,,,,,, +GARD:20741,Active,Orphanet,ORPHA:252128,Subtype of disorder,[Histopathological subtype],Malignant peripheral nerve sheath tumor with perineurial differentiation,[Malignant perineurioma],"Malignant peripheral nerve sheath tumor with perineurial differentiation is a rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumor necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumors have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported.",,,,,,,,, +GARD:20742,Active,Orphanet,ORPHA:252190,Group of disorders,[Category],Inherited nervous system cancer-predisposing syndrome,,,,,,,,,,, +GARD:20743,Active,Orphanet,ORPHA:252212,Subtype of disorder,[Histopathological subtype],Malignant triton tumor,"[MPNST with rhabdomyosarcomatous differentiation, MTT, Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation]",Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST; see this term) characterized histopathologically by focal rhabdomyoblastic differentiation.,,,,,,,,, +GARD:20744,Active,Orphanet,ORPHA:254370,Group of disorders,[Category],Rare cutaneous lichen planus,[Rare cutaneous LP],,,,,,,,,, +GARD:20745,Active,Orphanet,ORPHA:254373,Group of disorders,[Category],Rare mucosal lichen planus,[Rare mucosal LP],,,,,,,,,, +GARD:20746,Active,Orphanet,ORPHA:254504,Subtype of disorder,[Clinical subtype],Inhalational botulism,[Inhalation botulism],"Inhalational botulism is a man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).",,,,,,,,, +GARD:20747,Active,Orphanet,ORPHA:254509,Subtype of disorder,[Clinical subtype],Iatrogenic botulism,[Inadvertent botulism],"Iatrogenic botulism is the most recent man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.",,,,,,,,, +GARD:20748,Active,Orphanet,ORPHA:254685,Group of disorders,[Category],Gestational trophoblastic disease,,,,,,,,,,, +GARD:20749,Active,Orphanet,ORPHA:254693,Subtype of disorder,[Clinical subtype],Partial hydatidiform mole,"[Incomplete hydatidiform mole, Incomplete molar pregnancy, Partial molar pregnancy]","A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.",,,,,,,,, +GARD:20750,Active,Orphanet,ORPHA:254698,Disorder,[Disease],Epithelioid trophoblastic tumor,,A rare gestational trophoblastic neoplasmcharacterized histologically by invasion of the myometrium and/or cervix uteri by regular epithelioid cells of chorion laeve type intermediate trophoblasts which clusters in a hyaline stroma. The disease generally occurs several years after pregnancy and indicative signs are irregular metrorrhagia and moderate increases in chorionic gonadotropin levels.,,,,,,,,, +GARD:20751,Active,Orphanet,ORPHA:254704,Disorder,[Biological anomaly],Genetic hyperferritinemia without iron overload,[Benign hyperferritinemia],"Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.",,,,,,,,, +GARD:20752,Active,Orphanet,ORPHA:254746,Group of disorders,[Category],Pyruvate metabolism disorder,,,,,,,,,,, +GARD:20753,Active,Orphanet,ORPHA:254749,Group of disorders,[Category],Tricarboxylic acid cycle disorder,"[Citric acid cycle disorder, Krebs cycle disorder, TCA cycle disorder]",,,,,,,,,, +GARD:20754,Active,Orphanet,ORPHA:254758,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies,"[Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies, OXPHOS disease due to mitochondrial DNA anomalies, OXPHOS disease due to mtDNA anomalies]",,,,,,,,,, +GARD:20755,Active,Orphanet,ORPHA:254767,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA,"[Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA, OXPHOS disease due to a large-scale single deletion of mitochondrial DNA, OXPHOS disease due to a large-scale single deletion of mtDNA]",,,,,,,,,, +GARD:20756,Active,Orphanet,ORPHA:254776,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA,"[Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA, OXPHOS disease due to a point mutation of mitochondrial DNA, OXPHOS disease due to a point mutation of mtDNA]",,,,,,,,,, +GARD:20757,Active,Orphanet,ORPHA:254788,Group of disorders,[Clinical group],Mitochondrial DNA-related mitochondrial myopathy,"[Maternally-inherited mitochondrial myopathy, mtDNA-related mitochondrial myopathy]","A group of rare mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies characterized by progressive, most commonly proximal, myopathy with variable degrees of weakness, exercise-induced muscle pain, and fatigue. Progressive external ophthalmoplegia is often observed. Additional features include neurological signs and symptoms (such as seizures, stroke-like episodes, or developmental delay), cardiomyopathy, involvement of liver, kidneys, and gastrointestinal tract, and diabetes. Lactic acidosis is frequently present, while recurrent rhabdomyolysis and myoglobinuria are rare. Muscle biopsy may reveal the presence of ragged-red fibers and a mosaic pattern of cytochrome c oxidase-negative fibers.",,,,,,,,, +GARD:20758,Active,Orphanet,ORPHA:254807,Group of disorders,[Category],Multiple mitochondrial DNA deletion syndrome,[Multiple mtDNA deletion syndrome],,,,,,,,,, +GARD:20759,Active,Orphanet,ORPHA:254818,Group of disorders,[Clinical group],Ataxia neuropathy spectrum,,,,,,,,,,, +GARD:2076,Active,Orphanet,ORPHA:1896,Disorder,[Malformation syndrome],EEC syndrome,[Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome],"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).","[129900, 604292]",,,,,EEC syndrome,TRUE,FALSE,Active +GARD:20760,Active,Orphanet,ORPHA:254822,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder with no known mechanism,[OXPHOS disease with no known mechanism],,,,,,,,,, +GARD:20761,Active,Orphanet,ORPHA:254827,Group of disorders,[Category],Mitochondrial membrane transport disorder,,,,,,,,,,, +GARD:20762,Active,Orphanet,ORPHA:254830,Group of disorders,[Category],Mitochondrial substrate carrier disorder,,,,,,,,,,, +GARD:20763,Active,Orphanet,ORPHA:254834,Group of disorders,[Category],Mitochondrial protein import disorder,,,,,,,,,,, +GARD:20764,Active,Orphanet,ORPHA:254837,Group of disorders,[Clinical group],Unspecified mitochondrial disorder,,,,,,,,,,, +GARD:20765,Active,Orphanet,ORPHA:254843,Group of disorders,[Clinical group],Exercise intolerance with lactic acidosis,,,,,,,,,,, +GARD:20766,Active,Orphanet,ORPHA:254846,Group of disorders,[Category],Isolated oxidative phosphorylation complex disorder,[Isolated respiratory chain complex disorder],,,,,,,,,, +GARD:20767,Active,Orphanet,ORPHA:254851,Disorder,[Disease],Mitochondrial DNA-related dystonia,"[Maternally-inherited mitochondrial dystonia, mtDNA-related dystonia]",Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.,,,,,,,,, +GARD:20768,Active,Orphanet,ORPHA:254854,Disorder,[Disease],Pure mitochondrial myopathy,,"Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.",,,,,,,,, +GARD:20769,Active,Orphanet,ORPHA:254871,Group of disorders,[Clinical group],"Mitochondrial DNA depletion syndrome, hepatocerebral form","[Deoxyguanosine kinase deficiency, mtDNA depletion syndrome, hepatocerebral form]",,,,,,,,,, +GARD:2077,Legacy,GARD,,,,,,,,,,,,Ectrodactyly and ectodermal dysplasia without cleft lip/palate,TRUE,FALSE,Retired +GARD:20770,Active,Orphanet,ORPHA:261102,Disorder,[Malformation syndrome],Distal 7q11.23 microduplication syndrome,"[Distal dup(7)(q11.23), Distal trisomy 7q11.23, Dup7q11.23D]","Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.",,,,,,,,, +GARD:20771,Active,Orphanet,ORPHA:261144,Subtype of disorder,[Clinical subtype],FOXG1 syndrome due to 14q12 microdeletion,"[Del(14)(q12), Monosomy 14q12]","14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.",,,,,,,,, +GARD:20772,Active,Orphanet,ORPHA:261204,Disorder,[Malformation syndrome],16p11.2p12.2 microduplication syndrome,"[Dup(16)(p11.2p12.2), Trisomy 16p11.2p12.2]","16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.",,,,,,,,, +GARD:20773,Active,Orphanet,ORPHA:261229,Disorder,[Malformation syndrome],14q11.2 microduplication syndrome,"[Dup(14)(q11.2), Trisomy 14q11.2]","14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.",,,,,,,,, +GARD:20774,Active,Orphanet,ORPHA:261236,Disorder,[Malformation syndrome],16p13.11 microdeletion syndrome,"[Del(16)(p13.11), Monosomy 16p13.11]","16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.",,,,,,,,, +GARD:20775,Active,Orphanet,ORPHA:261243,Disorder,[Malformation syndrome],16p13.11 microduplication syndrome,"[Dup(16)(p13.11), Trisomy 16p13.11]","16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.",,,,,,,,, +GARD:20776,Active,Orphanet,ORPHA:261257,Disorder,[Malformation syndrome],Distal 17p13.3 microdeletion syndrome,"[Distal del(17)(p13.3 ), Distal monosomy 17p13.3]","Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.",,,,,,,,, +GARD:20777,Active,Orphanet,ORPHA:261304,Disorder,[Malformation syndrome],Paternal 20q13.2q13.3 microdeletion syndrome,"[Paternal del(20)(q13.2q13.3), Paternal monosomy 20q13.2q13.3]","Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.",,,,,,,,, +GARD:20778,Active,Orphanet,ORPHA:261311,Disorder,[Malformation syndrome],20q13.33 microdeletion syndrome,"[Del(20)(q13.33), Monosomy 20q13.33]","A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.",,,,,,,,, +GARD:20779,Active,Orphanet,ORPHA:261323,Disorder,[Malformation syndrome],21q22.11q22.12 microdeletion syndrome,"[Del(21)(q22.11q22.12), Monosomy 21q22.11q22.12]","A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated.",,,,,,,,, +GARD:2078,Active,Orphanet,ORPHA:1897,Disorder,[Malformation syndrome],EEM syndrome,[Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome],"A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.",[225280],,,,,EEM syndrome,TRUE,FALSE,Active +GARD:20780,Active,Orphanet,ORPHA:261337,Disorder,[Malformation syndrome],Distal 22q11.2 microduplication syndrome,"[Distal dup(22)(q11.2), Distal trisomy 22q11.2]","A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from as asymptomatic parent.",,,,,,,,, +GARD:20781,Active,Orphanet,ORPHA:261344,Disorder,[Malformation syndrome],Trisomy 1q,[Duplication 1q],"Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.",,,,,,,,, +GARD:20782,Active,Orphanet,ORPHA:261501,Disorder,[Malformation syndrome],Atypical Norrie disease due to Xp11.3 microdeletion,"[Atypical Norrie disease due to del(X)(p11.3), Atypical Norrie disease due to nullisomy Xp11.3]","A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.",,,,,,,,, +GARD:20783,Active,Orphanet,ORPHA:261519,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome X,[UPD(X)mat],A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.,,,,,,,,, +GARD:20784,Active,Orphanet,ORPHA:261524,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome X,[UPD(X)pat],A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.,,,,,,,,, +GARD:20785,Active,Orphanet,ORPHA:261529,Disorder,[Malformation syndrome],Ring chromosome Y syndrome,"[Ring chromosome Y, r(Y)]","Ring chromosome Y syndrome is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.",,,,,,,,, +GARD:20786,Active,Orphanet,ORPHA:261584,Subtype of disorder,[Etiological subtype],Familial adenomatous polyposis due to 5q22.2 microdeletion,"[Colorectal adenomatous polyposis due to monosomy 5q22.2, FAP due to monosomy 5q22.2, Familial adenomatous polyposis due to del(5)(q22.2), Familial adenomatous polyposis due to monosomy 5q22.2, Familial polyposis coli due to monosomy 5q22.2]",,,,,,,,,, +GARD:20787,Active,Orphanet,ORPHA:261638,Subtype of disorder,[Etiological subtype],Okihiro syndrome due to 20q13 microdeletion,"[Duane-radial ray syndrome due to monosomy 20q13, Okihiro syndrome due to del(20)(q13), Okihiro syndrome due to monosomy 20q13]",,,,,,,,,, +GARD:20788,Active,Orphanet,ORPHA:261647,Subtype of disorder,[Etiological subtype],Okihiro syndrome due to a point mutation,[Duane-radial ray syndrome due to a point mutation],,,,,,,,,, +GARD:20789,Active,Orphanet,ORPHA:261766,Group of disorders,[Category],Partial deletion of chromosome 1,[Partial monosomy of chromosome 1],,,,,,,,,, +GARD:20790,Active,Orphanet,ORPHA:261771,Group of disorders,[Category],Partial deletion of chromosome 2,[Partial monosomy of chromosome 2],,,,,,,,,, +GARD:20791,Active,Orphanet,ORPHA:261776,Group of disorders,[Category],Partial deletion of chromosome 3,[Partial monosomy of chromosome 3],,,,,,,,,, +GARD:20792,Active,Orphanet,ORPHA:261781,Group of disorders,[Category],Partial deletion of chromosome 4,[Partial monosomy of chromosome 4],,,,,,,,,, +GARD:20793,Active,Orphanet,ORPHA:261786,Group of disorders,[Category],Partial deletion of chromosome 5,[Partial monosomy of chromosome 5],,,,,,,,,, +GARD:20794,Active,Orphanet,ORPHA:261791,Group of disorders,[Category],Partial deletion of chromosome 6,[Partial monosomy of chromosome 6],,,,,,,,,, +GARD:20795,Active,Orphanet,ORPHA:261796,Group of disorders,[Category],Partial deletion of chromosome 7,[Partial monosomy of chromosome 7],,,,,,,,,, +GARD:20796,Active,Orphanet,ORPHA:261801,Group of disorders,[Category],Partial deletion of chromosome 8,[Partial monosomy of chromosome 8],,,,,,,,,, +GARD:20797,Active,Orphanet,ORPHA:261806,Group of disorders,[Category],Partial deletion of chromosome 9,[Partial monosomy of chromosome 9],,,,,,,,,, +GARD:20798,Active,Orphanet,ORPHA:261811,Group of disorders,[Category],Partial deletion of chromosome 10,[Partial monosomy of chromosome 10],,,,,,,,,, +GARD:20799,Active,Orphanet,ORPHA:261816,Group of disorders,[Category],Partial deletion of chromosome 11,[Partial monosomy of chromosome 11],,,,,,,,,, +GARD:208,Legacy,GARD,,,,,,,,,,,,Giant mammary hamartoma,TRUE,FALSE,Active +GARD:20800,Active,Orphanet,ORPHA:261821,Group of disorders,[Category],Partial deletion of the long arm of chromosome 12,"[Partial deletion of chromosome 12q, Partial monosomy of chromosome 12q, Partial monosomy of the long arm of chromosome 12]",,,,,,,,,, +GARD:20801,Active,Orphanet,ORPHA:261826,Group of disorders,[Category],Partial deletion of chromosome 16,[Partial monosomy of chromosome 16],,,,,,,,,, +GARD:20802,Active,Orphanet,ORPHA:261831,Group of disorders,[Category],Partial deletion of chromosome 17,[Partial monosomy of chromosome 17],,,,,,,,,, +GARD:20803,Active,Orphanet,ORPHA:261836,Group of disorders,[Category],Partial deletion of chromosome 18,[Partial monosomy of chromosome 18],,,,,,,,,, +GARD:20804,Active,Orphanet,ORPHA:261841,Group of disorders,[Category],Partial deletion of chromosome 19,[Partial monosomy of chromosome 19],,,,,,,,,, +GARD:20805,Active,Orphanet,ORPHA:261846,Group of disorders,[Category],Partial deletion of chromosome 20,[Partial monosomy of chromosome 20],,,,,,,,,, +GARD:20806,Active,Orphanet,ORPHA:261857,Group of disorders,[Category],Partial deletion of the short arm of chromosome 1,"[Partial deletion of chromosome 1p, Partial monosomy of chromosome 1p, Partial monosomy of the short arm of chromosome 1]",,,,,,,,,, +GARD:20807,Active,Orphanet,ORPHA:261866,Group of disorders,[Category],Partial deletion of the short arm of chromosome 2,"[Partial deletion of chromosome 2p, Partial monosomy of chromosome 2p, Partial monosomy of the short arm of chromosome 2]",,,,,,,,,, +GARD:20808,Active,Orphanet,ORPHA:261884,Group of disorders,[Category],Partial deletion of the short arm of chromosome 4,"[Partial deletion of chromosome 4p, Partial monosomy of chromosome 4p, Partial monosomy of the short arm of chromosome 4]",,,,,,,,,, +GARD:20809,Active,Orphanet,ORPHA:261893,Group of disorders,[Category],Partial deletion of the short arm of chromosome 5,"[Partial deletion of chromosome 5p, Partial monosomy of chromosome 5p, Partial monosomy of the short arm of chromosome 5]",,,,,,,,,, +GARD:2081,Active,Orphanet,ORPHA:285,Disorder,[Disease],Hypermobile Ehlers-Danlos syndrome,"[EDS III, EDS-HT, Ehlers-Danlos syndrome hypermobility type, Ehlers-Danlos syndrome type 3, Hypermobile EDS, hEDS]","Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.",[130020],,,,,Hypermobile Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20810,Active,Orphanet,ORPHA:261902,Group of disorders,[Category],Partial deletion of the short arm of chromosome 6,"[Partial deletion of chromosome 6p, Partial monosomy of chromosome 6p, Partial monosomy of the short arm of chromosome 6]",,,,,,,,,, +GARD:20811,Active,Orphanet,ORPHA:261911,Group of disorders,[Category],Partial deletion of the short arm of chromosome 7,"[Partial deletion of chromosome 7p, Partial monosomy of chromosome 7p, Partial monosomy of the short arm of chromosome 7]",,,,,,,,,, +GARD:20812,Active,Orphanet,ORPHA:261920,Group of disorders,[Category],Partial deletion of the short arm of chromosome 8,"[Partial deletion of chromosome 8p, Partial monosomy of chromosome 8p, Partial monosomy of the short arm of chromosome 8]",,,,,,,,,, +GARD:20813,Active,Orphanet,ORPHA:261929,Group of disorders,[Category],Partial deletion of the short arm of chromosome 9,"[Partial deletion of chromosome 9p, Partial monosomy of chromosome 9p, Partial monosomy of the short arm of chromosome 9]",,,,,,,,,, +GARD:20814,Active,Orphanet,ORPHA:261938,Group of disorders,[Category],Partial deletion of the short arm of chromosome 10,"[Partial deletion of chromosome 10p, Partial monosomy of chromosome 10p, Partial monosomy of the short arm of chromosome 10]",,,,,,,,,, +GARD:20815,Active,Orphanet,ORPHA:261947,Group of disorders,[Category],Partial deletion of the short arm of chromosome 11,"[Partial deletion of chromosome 11p, Partial monosomy of chromosome 11p, Partial monosomy of the short arm of chromosome 11]",,,,,,,,,, +GARD:20816,Active,Orphanet,ORPHA:261956,Group of disorders,[Category],Partial deletion of the short arm of chromosome 16,"[Partial deletion of chromosome 16p, Partial monosomy of chromosome 16p, Partial monosomy of the short arm of chromosome 16]",,,,,,,,,, +GARD:20817,Active,Orphanet,ORPHA:261965,Group of disorders,[Category],Partial monosomy of the short arm of chromosome 17,"[Partial deletion of chromosome 17p, Partial deletion of the short arm of chromosome 17, Partial monosomy of chromosome 17p]",,,,,,,,,, +GARD:20818,Active,Orphanet,ORPHA:261974,Group of disorders,[Category],Partial deletion of the short arm of chromosome 18,"[Partial deletion of chromosome 18p, Partial monosomy of chromosome 18p, Partial monosomy of the short arm of chromosome 18]",,,,,,,,,, +GARD:20819,Active,Orphanet,ORPHA:261983,Group of disorders,[Category],Partial deletion of the short arm of chromosome 19,"[Partial deletion of chromosome 19p, Partial monosomy of chromosome 19p, Partial monosomy of the short arm of chromosome 19]",,,,,,,,,, +GARD:2082,Active,Orphanet,ORPHA:286,Disorder,[Disease],Vascular Ehlers-Danlos syndrome,"[Arterial-ecchymotic EDS, EDS IV, Ehlers-Danlos syndrome type 4, Sack-Barabas syndrome, Vascular EDS, vEDS]","A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.",[130050],,,,,Vascular Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20820,Active,Orphanet,ORPHA:261992,Group of disorders,[Category],Partial monosomy of the short arm of chromosome 20,"[Partial deletion of chromosome 20p, Partial deletion of the short arm of chromosome 20, Partial monosomy of chromosome 20p, Pure partial 20p deletion]",,,,,,,,,, +GARD:20821,Active,Orphanet,ORPHA:262001,Group of disorders,[Category],Partial deletion of the long arm of chromosome 1,"[Partial deletion of chromosome 1q, Partial monosomy of chromosome 1q, Partial monosomy of the long arm of chromosome 1]",,,,,,,,,, +GARD:20822,Active,Orphanet,ORPHA:262010,Group of disorders,[Category],Partial deletion of the long arm of chromosome 2,"[Partial deletion of chromosome 2q, Partial monosomy of chromosome 2q, Partial monosomy of the long arm of chromosome 2]",,,,,,,,,, +GARD:20823,Active,Orphanet,ORPHA:262019,Group of disorders,[Category],Partial deletion of the long arm of chromosome 3,"[Partial deletion of chromosome 3q, Partial monosomy of chromosome 3q, Partial monosomy of the long arm of chromosome 3]",,,,,,,,,, +GARD:20824,Active,Orphanet,ORPHA:262029,Group of disorders,[Category],Partial deletion of the long arm of chromosome 4,"[Partial deletion of chromosome 4q, Partial monosomy of chromosome 4q, Partial monosomy of the long arm of chromosome 4]",,,,,,,,,, +GARD:20825,Active,Orphanet,ORPHA:262038,Group of disorders,[Category],Partial deletion of the long arm of chromosome 5,"[Partial deletion of chromosome 5q, Partial monosomy of chromosome 5q, Partial monosomy of the long arm of chromosome 5]",,,,,,,,,, +GARD:20826,Active,Orphanet,ORPHA:262047,Group of disorders,[Category],Partial deletion of the long arm of chromosome 6,"[Partial deletion of chromosome 6q, Partial monosomy of chromosome 6q, Partial monosomy of the long arm of chromosome 6]",,,,,,,,,, +GARD:20827,Active,Orphanet,ORPHA:262056,Group of disorders,[Category],Partial deletion of the long arm of chromosome 7,"[Partial deletion of chromosome 7q, Partial monosomy of chromosome 7q, Partial monosomy of the long arm of chromosome 7]",,,,,,,,,, +GARD:20828,Active,Orphanet,ORPHA:262065,Group of disorders,[Category],Partial deletion of the long arm of chromosome 8,"[Partial deletion of chromosome 8q, Partial monosomy of chromosome 8q, Partial monosomy of the long arm of chromosome 8]",,,,,,,,,, +GARD:20829,Active,Orphanet,ORPHA:262074,Group of disorders,[Category],Partial monosomy of the long arm of chromosome 9,"[Partial deletion of chromosome 9q, Partial deletion of the long arm of chromosome 9, Partial monosomy of chromosome 9q]",,,,,,,,,, +GARD:2083,Active,Orphanet,ORPHA:536545,Disorder,[Disease],Kyphoscoliotic Ehlers-Danlos syndrome,"[EDS VI, Ehlers-Danlos syndrome type 6, Kyphoscoliotic EDS, kEDS]","A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.",,,,,,Kyphoscoliotic Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20830,Active,Orphanet,ORPHA:262083,Group of disorders,[Category],Partial monosomy of the long arm of chromosome 10,"[Partial deletion of chromosome 10q, Partial deletion of the long arm of chromosome 10, Partial monosomy of chromosome 10q]",,,,,,,,,, +GARD:20831,Active,Orphanet,ORPHA:262092,Group of disorders,[Category],Partial deletion of the long arm of chromosome 11,"[Partial deletion of chromosome 11q, Partial monosomy of chromosome 11q, Partial monosomy of the long arm of chromosome 11]",,,,,,,,,, +GARD:20832,Active,Orphanet,ORPHA:262101,Group of disorders,[Category],Partial deletion of the long arm of chromosome 13,"[Partial deletion of chromosome 13q, Partial monosomy of chromosome 13q, Partial monosomy of the long arm of chromosome 13]",,,,,,,,,, +GARD:20833,Active,Orphanet,ORPHA:262110,Group of disorders,[Category],Partial deletion of the long arm of chromosome 14,"[Partial deletion of chromosome 14q, Partial monosomy of chromosome 14q, Partial monosomy of the long arm of chromosome 14]",,,,,,,,,, +GARD:20834,Active,Orphanet,ORPHA:262119,Group of disorders,[Category],Partial deletion of the long arm of chromosome 15,"[Partial deletion of chromosome 15q, Partial monosomy of chromosome 15q, Partial monosomy of the long arm of chromosome 15]",,,,,,,,,, +GARD:20835,Active,Orphanet,ORPHA:262128,Group of disorders,[Category],Partial deletion of the long arm of chromosome 16,"[Partial deletion of chromosome 16q, Partial monosomy of chromosome 16q, Partial monosomy of the long arm of chromosome 16]",,,,,,,,,, +GARD:20836,Active,Orphanet,ORPHA:262137,Group of disorders,[Category],Partial deletion of the long arm of chromosome 17,"[Partial deletion of chromosome 17q, Partial monosomy of chromosome 17q, Partial monosomy of the long arm of chromosome 17]",,,,,,,,,, +GARD:20837,Active,Orphanet,ORPHA:262146,Group of disorders,[Category],Partial deletion of the long arm of chromosome 18,"[Partial deletion of chromosome 18q, Partial monosomy of chromosome 18q, Partial monosomy of the long arm of chromosome 18]",,,,,,,,,, +GARD:20838,Active,Orphanet,ORPHA:262155,Group of disorders,[Category],Partial deletion of the long arm of chromosome 19,"[Partial deletion of chromosome 19q, Partial monosomy of chromosome 19q, Partial monosomy of the long arm of chromosome 19]",,,,,,,,,, +GARD:20839,Active,Orphanet,ORPHA:262164,Group of disorders,[Category],Partial deletion of the long arm of chromosome 20,"[Partial deletion of chromosome 20q, Partial monosomy of chromosome 20q, Partial monosomy of the long arm of chromosome 20]",,,,,,,,,, +GARD:2084,Active,Orphanet,ORPHA:1899,Disorder,[Disease],Arthrochalasia Ehlers-Danlos syndrome,"[Arthrochalasia EDS, Arthrochalasis multiplex congenita, EDS VII, Ehlers-Danlos syndrome type 7, Ehlers-Danlos syndrome, arthrochalasia type, aEDS]","A form of Ehlers-Danlos syndrome (EDS) characterized by congenital bilateral hip dislocation, severe generalized joint hypermobility with recurrent joint dislocations and subluxations, hyperextensible and/or fragile skin.","[130060, 617821]",,,,,Arthrochalasia Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20840,Active,Orphanet,ORPHA:262173,Group of disorders,[Category],Partial deletion of the long arm of chromosome 21,"[Partial deletion of chromosome 21q, Partial monosomy of chromosome 21q, Partial monosomy of the long arm of chromosome 21]",,,,,,,,,, +GARD:20841,Active,Orphanet,ORPHA:262182,Group of disorders,[Category],Partial deletion of the long arm of chromosome 22,"[Partial deletion of chromosome 22q, Partial monosomy of chromosome 22q, Partial monosomy of the long arm of chromosome 22]",,,,,,,,,, +GARD:20842,Active,Orphanet,ORPHA:262191,Group of disorders,[Category],Partial duplication of chromosome 1,[Partial trisomy of chromosome 1],,,,,,,,,, +GARD:20843,Active,Orphanet,ORPHA:262196,Group of disorders,[Category],Partial duplication of chromosome 2,[Partial trisomy of chromosome 2],,,,,,,,,, +GARD:20844,Active,Orphanet,ORPHA:262201,Group of disorders,[Category],Partial duplication of chromosome 3,[Partial trisomy of chromosome 3],,,,,,,,,, +GARD:20845,Active,Orphanet,ORPHA:262206,Group of disorders,[Category],Partial duplication of chromosome 4,[Partial trisomy of chromosome 4],,,,,,,,,, +GARD:20846,Active,Orphanet,ORPHA:262211,Group of disorders,[Category],Partial trisomy/tetrasomy of chromosome 5,[Partial duplication/triplication of chromosome 5],,,,,,,,,, +GARD:20847,Active,Orphanet,ORPHA:262628,Group of disorders,[Category],Partial duplication of chromosome 6,[Partial trisomy of chromosome 6],,,,,,,,,, +GARD:20848,Active,Orphanet,ORPHA:262633,Group of disorders,[Category],Partial duplication of chromosome 7,[Partial trisomy of chromosome 7],,,,,,,,,, +GARD:20849,Active,Orphanet,ORPHA:262638,Group of disorders,[Category],Partial duplication of chromosome 8,[Partial trisomy of chromosome 8],,,,,,,,,, +GARD:20850,Active,Orphanet,ORPHA:262643,Group of disorders,[Category],Partial trisomy/tetrasomy of chromosome 9,[Partial duplication/triplication of chromosome 9],,,,,,,,,, +GARD:20851,Active,Orphanet,ORPHA:262648,Group of disorders,[Category],Partial duplication of chromosome 10,[Partial trisomy of chromosome 10],,,,,,,,,, +GARD:20852,Active,Orphanet,ORPHA:262653,Group of disorders,[Category],Partial duplication of chromosome 11,[Partial trisomy of chromosome 11],,,,,,,,,, +GARD:20853,Active,Orphanet,ORPHA:262658,Group of disorders,[Category],Partial trisomy/tetrasomy of the short arm of chromosome 12,"[Partial duplication/triplication of chromosome 12p, Partial duplication/triplication of the short arm of chromosome 12, Partial trisomy/tetrasomy of chromosome 12p]",,,,,,,,,, +GARD:20854,Active,Orphanet,ORPHA:262672,Group of disorders,[Category],Partial duplication of chromosome 16,[Partial trisomy of chromosome 16],,,,,,,,,, +GARD:20855,Active,Orphanet,ORPHA:262677,Group of disorders,[Category],Partial duplication of chromosome 17,[Partial trisomy of chromosome 17],,,,,,,,,, +GARD:20856,Active,Orphanet,ORPHA:262682,Group of disorders,[Category],Partial trisomy/tetrasomy of chromosome 18,[Partial duplication/triplication of chromosome 18],,,,,,,,,, +GARD:20857,Active,Orphanet,ORPHA:262687,Group of disorders,[Category],Partial duplication of chromosome 19,[Partial trisomy of chromosome 19],,,,,,,,,, +GARD:20858,Active,Orphanet,ORPHA:262692,Group of disorders,[Category],Partial trisomy of chromosome 20,[Partial duplication of chromosome 20],,,,,,,,,, +GARD:20859,Active,Orphanet,ORPHA:262698,Group of disorders,[Category],Partial duplication of the short arm of chromosome 2,"[Partial duplication of chromosome 2p, Partial trisomy of chromosome 2p]",,,,,,,,,, +GARD:20860,Active,Orphanet,ORPHA:262707,Group of disorders,[Category],Partial duplication of the short arm of chromosome 3,"[Partial duplication of chromosome 3p, Partial trisomy of chromosome 3p, Partial trisomy of the short arm of chromosome 3]",,,,,,,,,, +GARD:20861,Active,Orphanet,ORPHA:262716,Group of disorders,[Category],Partial duplication of the short arm of chromosome 4,"[Partial duplication of chromosome 4p, Partial trisomy of chromosome 4p, Partial trisomy of the short arm of chromosome 4]",,,,,,,,,, +GARD:20862,Active,Orphanet,ORPHA:262725,Group of disorders,[Category],Partial trisomy/tetrasomy of the short arm of chromosome 5,"[Partial duplication/triplication of chromosome 5p, Partial duplication/triplication of the short arm of chromosome 5, Partial trisomy/tetrasomy of chromosome 5p]",,,,,,,,,, +GARD:20863,Active,Orphanet,ORPHA:262740,Group of disorders,[Category],Partial duplication of the short arm of chromosome 6,"[Partial duplication of chromosome 6p, Partial trisomy of chromosome 6p, Partial trisomy of the short arm of chromosome 6]",,,,,,,,,, +GARD:20864,Active,Orphanet,ORPHA:262749,Group of disorders,[Category],Partial duplication of the short arm of chromosome 7,"[Partial duplication of chromosome 7p, Partial trisomy of chromosome 7p, Partial trisomy of the short arm of chromosome 7]",,,,,,,,,, +GARD:20865,Active,Orphanet,ORPHA:262758,Group of disorders,[Category],Partial duplication of the short arm of chromosome 8,"[Partial duplication of chromosome 8p, Partial trisomy of chromosome 8p, Partial trisomy of the short arm of chromosome 8]",,,,,,,,,, +GARD:20866,Active,Orphanet,ORPHA:262767,Group of disorders,[Category],Partial trisomy/tetrasomy of the short arm of chromosome 9,"[Partial duplication of chromosome 9p, Partial duplication of the short arm of chromosome 9, Partial trisomy of chromosome 9p]",,,,,,,,,, +GARD:20867,Active,Orphanet,ORPHA:262776,Group of disorders,[Category],Partial duplication of the short arm of chromosome 10,"[Partial duplication of chromosome 10p, Partial trisomy of chromosome 10p, Partial trisomy of the short arm of chromosome 10]",,,,,,,,,, +GARD:20868,Active,Orphanet,ORPHA:262785,Group of disorders,[Category],Partial duplication of the short arm of chromosome 11,"[Partial duplication of chromosome 11p, Partial trisomy of chromosome 11p, Partial trisomy of the short arm of chromosome 11]",,,,,,,,,, +GARD:20869,Active,Orphanet,ORPHA:262794,Group of disorders,[Category],Partial duplication of the short arm of chromosome 16,"[Partial duplication of chromosome 16p, Partial trisomy of chromosome 16p, Partial trisomy of the short arm of chromosome 16]",,,,,,,,,, +GARD:20870,Active,Orphanet,ORPHA:262803,Group of disorders,[Category],Partial duplication of the short arm of chromosome 17,"[Partial duplication of chromosome 17p, Partial trisomy of chromosome 17p, Partial trisomy of the short arm of chromosome 17]",,,,,,,,,, +GARD:20871,Active,Orphanet,ORPHA:262812,Group of disorders,[Category],Partial trisomy/tetrasomy of the short arm of chromosome 18,"[Partial duplication/triplication of chromosome 18p, Partial duplication/triplication of the short arm of chromosome 18, Partial trisomy/tetrasomy of chromosome 18p]",,,,,,,,,, +GARD:20872,Active,Orphanet,ORPHA:262833,Group of disorders,[Category],Partial duplication of the long arm of chromosome 1,"[Partial duplication of chromosome 1q, Partial trisomy of chromosome 1q, Partial trisomy of the long arm of chromosome 1]",,,,,,,,,, +GARD:20873,Active,Orphanet,ORPHA:262842,Group of disorders,[Category],Partial duplication of the long arm of chromosome 2,"[Partial duplication of chromosome 2q, Partial trisomy of chromosome 2q, Partial trisomy of the long arm of chromosome 2]",,,,,,,,,, +GARD:20874,Active,Orphanet,ORPHA:262851,Group of disorders,[Category],Partial duplication of the long arm of chromosome 3,"[Partial duplication of chromosome 3q, Partial trisomy of chromosome 3q]",,,,,,,,,, +GARD:20875,Active,Orphanet,ORPHA:262860,Group of disorders,[Category],Partial duplication of the long arm of chromosome 4,"[Partial duplication of chromosome 4q, Partial trisomy of chromosome 4q, Partial trisomy of the long arm of chromosome 4]",,,,,,,,,, +GARD:20876,Active,Orphanet,ORPHA:262869,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 5,"[Partial duplication of chromosome 5q, Partial duplication of the long arm of chromosome 5, Partial trisomy of chromosome 5q]",,,,,,,,,, +GARD:20877,Active,Orphanet,ORPHA:262878,Group of disorders,[Category],Partial duplication of the long arm of chromosome 6,"[Partial duplication of chromosome 6q, Partial trisomy of chromosome 6q, Partial trisomy of the long arm of chromosome 6]",,,,,,,,,, +GARD:20878,Active,Orphanet,ORPHA:262887,Group of disorders,[Category],Partial duplication of the long arm of chromosome 7,"[Partial duplication of chromosome 7q, Partial trisomy of chromosome 7q, Partial trisomy of the long arm of chromosome 7]",,,,,,,,,, +GARD:20879,Active,Orphanet,ORPHA:262896,Group of disorders,[Category],Partial duplication of the long arm of chromosome 8,"[Partial duplication of chromosome 8q, Partial trisomy of chromosome 8q, Partial trisomy of the long arm of chromosome 8]",,,,,,,,,, +GARD:2088,Active,Orphanet,ORPHA:287,Disorder,[Disease],Classical Ehlers-Danlos syndrome,"[Classical EDS, cEDS]","A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.","[130000, 130010]",,,,,Classical Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20880,Active,Orphanet,ORPHA:262905,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 9,"[Partial duplication of chromosome 9q, Partial duplication of the long arm of chromosome 9, Partial trisomy of chromosome 9q]",,,,,,,,,, +GARD:20881,Active,Orphanet,ORPHA:262914,Group of disorders,[Category],Partial duplication of the long arm of chromosome 10,"[Partial duplication of chromosome 10q, Partial trisomy of chromosome 10q, Partial trisomy of the long arm of chromosome 10]",,,,,,,,,, +GARD:20882,Active,Orphanet,ORPHA:262923,Group of disorders,[Category],Partial duplication of the long arm of chromosome 11,"[Partial duplication of chromosome 11q, Partial trisomy of chromosome 11q, Partial trisomy of the long arm of chromosome 11]",,,,,,,,,, +GARD:20883,Active,Orphanet,ORPHA:262932,Group of disorders,[Category],Partial duplication of the long arm of chromosome 13,"[Partial duplication of chromosome 13q, Partial trisomy of chromosome 13q, Partial trisomy of the long arm of chromosome 13]",,,,,,,,,, +GARD:20884,Active,Orphanet,ORPHA:262941,Group of disorders,[Category],Partial duplication of the long arm of chromosome 14,"[Partial duplication of chromosome 14q, Partial trisomy of chromosome 14q, Partial trisomy of the long arm of chromosome 14]",,,,,,,,,, +GARD:20885,Active,Orphanet,ORPHA:262950,Group of disorders,[Category],Partial duplication of the long arm of chromosome 15,"[Partial duplication of chromosome 15q, Partial trisomy of chromosome 15q, Partial trisomy of the long arm of chromosome 15]",,,,,,,,,, +GARD:20886,Active,Orphanet,ORPHA:262959,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 16,"[Partial duplication of chromosome 16q, Partial duplication of the long arm of chromosome 16, Partial trisomy of chromosome 16q]",,,,,,,,,, +GARD:20887,Active,Orphanet,ORPHA:262968,Group of disorders,[Category],Partial duplication of the long arm of chromosome 17,"[Partial duplication of chromosome 17q, Partial trisomy of chromosome 17q, Partial trisomy of the long arm of chromosome 17]",,,,,,,,,, +GARD:20888,Active,Orphanet,ORPHA:262977,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 18,"[Partial duplication of chromosome 18q, Partial duplication of the long arm of chromosome 18, Partial trisomy of chromosome 18q]",,,,,,,,,, +GARD:20889,Active,Orphanet,ORPHA:262986,Group of disorders,[Category],Partial duplication of the long arm of chromosome 19,"[Partial duplication of chromosome 19q, Partial trisomy of chromosome 19q, Partial trisomy of the long arm of chromosome 19]",,,,,,,,,, +GARD:2089,Active,Orphanet,ORPHA:1901,Disorder,[Disease],Dermatosparaxis Ehlers-Danlos syndrome,"[Dermatosparaxis EDS, Ehlers-Danlos syndrome type 7C, Human dermatosparaxis EDS VIIC, dEDS]","A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.",[225410],,,,,Dermatosparaxis Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20890,Active,Orphanet,ORPHA:262995,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 20,"[Partial duplication of chromosome 20q, Partial duplication of the long arm of chromosome 20, Partial trisomy of chromosome 20q]",,,,,,,,,, +GARD:20891,Active,Orphanet,ORPHA:263004,Group of disorders,[Category],Partial duplication of the long arm of chromosome 22,"[Partial duplication of chromosome 22q, Partial trisomy of chromosome 22q, Partial trisomy of the long arm of chromosome 22]",,,,,,,,,, +GARD:20892,Active,Orphanet,ORPHA:263310,Subtype of disorder,[Histopathological subtype],Thymoma type A,"[Primary thymic epithelial neoplasm type A, Primary thymic epithelial tumor type A]",,,,,,,,,, +GARD:20893,Active,Orphanet,ORPHA:263317,Subtype of disorder,[Histopathological subtype],Thymoma type B,"[Primary thymic epithelial neoplasm type B, Primary thymic epithelial tumor type B]",,,,,,,,,, +GARD:20894,Active,Orphanet,ORPHA:263324,Subtype of disorder,[Histopathological subtype],Thymoma type AB,"[Primary thymic epithelial neoplasm type AB, Primary thymic epithelial tumor type AB]",,,,,,,,,, +GARD:20895,Active,Orphanet,ORPHA:263331,Subtype of disorder,[Histopathological subtype],Well-differentiated thymic neuroendocrine carcinoma,,,,,,,,,,, +GARD:20896,Active,Orphanet,ORPHA:263335,Subtype of disorder,[Histopathological subtype],Moderately-differentiated thymic neuroendocrine carcinoma,,,,,,,,,,, +GARD:20897,Active,Orphanet,ORPHA:263339,Subtype of disorder,[Histopathological subtype],Poorly differentiated thymic neuroendocrine carcinoma,,,,,,,,,,, +GARD:20898,Active,Orphanet,ORPHA:263352,Disorder,[Particular clinical situation in a disease or syndrome],Postcardiotomy right ventricular failure,,,,,,,,,,, +GARD:20899,Active,Orphanet,ORPHA:263410,Disorder,[Disease],Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,,"Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome is a rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.",,,,,,,,, +GARD:20900,Active,Orphanet,ORPHA:263413,Disorder,[Disease],Angiosarcoma,,"A rare vascular tumor characterized by a malignant space-occupying lesion composed of cells variably recapitulating features of normal endothelium. It mostly develops as a cutaneous tumor and is much less frequently located in the deep soft tissue. Clinical presentation is an enlarging mass, sometimes with symptoms like coagulopathy, anemia, persistent hematoma, or bruisability. Some tumors are associated with pre-existing conditions, e. g. Klippel-Trenaunay syndrome, Maffucci syndrome, or following radiation, among others. Older age, retroperitoneal location, large size, and high mitotic activity are predictors for poor outcome.",,,,,,,,, +GARD:20901,Active,Orphanet,ORPHA:263425,Disorder,[Disease],Nevus of Ota,[Nevus fusculoceruleus ophthalmomaxillaris],"Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.",,,,,,,,, +GARD:20902,Active,Orphanet,ORPHA:263435,Disorder,[Disease],Congenital smooth muscle hamartoma,,"Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.",,,,,,,,, +GARD:20903,Active,Orphanet,ORPHA:263455,Disorder,[Disease],Hyperinsulinism due to HNF4A deficiency,[Hyperinsulinemic hypoglycemia due to HNF4A deficiency],"Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term).",,,,,,,,, +GARD:20904,Active,Orphanet,ORPHA:263558,Subtype of disorder,[Clinical subtype],Peeling skin syndrome type C,"[Generalized deciduous skin type C, Generalized peeling skin syndrome type C]",,,,,,,,,, +GARD:20905,Active,Orphanet,ORPHA:263665,Disorder,[Disease],NK-cell enteropathy,,"Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see these terms).",,,,,,,,, +GARD:20906,Active,Orphanet,ORPHA:263708,Group of disorders,[Category],Complex chromosomal rearrangement,,,,,,,,,,, +GARD:20907,Active,Orphanet,ORPHA:263714,Group of disorders,[Category],X chromosome number anomaly,,,,,,,,,,, +GARD:20908,Active,Orphanet,ORPHA:263717,Group of disorders,[Category],X chromosome number anomaly with female phenotype,,,,,,,,,,, +GARD:20909,Active,Orphanet,ORPHA:263720,Group of disorders,[Category],X chromosome number anomaly with male phenotype,,,,,,,,,,, +GARD:20910,Active,Orphanet,ORPHA:263723,Group of disorders,[Category],Polysomy of X chromosome,,,,,,,,,,, +GARD:20911,Active,Orphanet,ORPHA:263726,Group of disorders,[Category],Partial deletion of chromosome X,[Partial monosomy of chromosome X],,,,,,,,,, +GARD:20912,Active,Orphanet,ORPHA:263731,Group of disorders,[Category],Partial monosomy of the short arm of chromosome X,"[Partial deletion of chromosome Xp, Partial deletion of the short arm of chromosome X, Partial monosomy of chromosome Xp]",,,,,,,,,, +GARD:20913,Active,Orphanet,ORPHA:263746,Group of disorders,[Category],Y chromosome number anomaly,,,,,,,,,,, +GARD:20914,Active,Orphanet,ORPHA:263749,Group of disorders,[Category],X and Y chromosomal anomaly,,,,,,,,,,, +GARD:20915,Active,Orphanet,ORPHA:263756,Group of disorders,[Category],Partial deletion of the long arm of chromosome X,"[Partial deletion of chromosome Xq, Partial monosomy of chromosome Xq, Partial monosomy of the long arm of chromosome X]",,,,,,,,,, +GARD:20916,Active,Orphanet,ORPHA:263768,Group of disorders,[Category],Partial duplication of chromosome X,[Partial trisomy of chromosome X],,,,,,,,,, +GARD:20917,Active,Orphanet,ORPHA:263783,Group of disorders,[Category],Partial duplication of the long arm of chromosome X,"[Partial duplication of chromosome Xq, Partial trisomy of chromosome Xq, Partial trisomy of the long arm of chromosome X]",,,,,,,,,, +GARD:20918,Active,Orphanet,ORPHA:263793,Group of disorders,[Category],Uniparental disomy of chromosome X,[UPD(X)],,,,,,,,,, +GARD:20919,Active,Orphanet,ORPHA:264431,Group of disorders,[Category],Partial duplication of the short arm of chromosome 1,"[Partial duplication of chromosome 1p, Partial trisomy of chromosome 1p]",,,,,,,,,, +GARD:2092,Active,Orphanet,ORPHA:1902,Disorder,[Disease],Ehrlichiosis,,"A group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE).",,,,,,Ehrlichiosis,TRUE,FALSE,Active +GARD:20920,Active,Orphanet,ORPHA:264450,Disorder,[Malformation syndrome],Trisomy 8p,[Duplication 8p],"Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.",,,,,,,,, +GARD:20921,Active,Orphanet,ORPHA:264656,Group of disorders,[Category],Interstitial lung disease specific to childhood,[ILD specific to childhood],,,,,,,,,, +GARD:20922,Active,Orphanet,ORPHA:264670,Group of disorders,[Category],Primary interstitial lung disease specific to childhood due to alveolar structure disorder,[Primary ILD specific to childhood due to alveolar structure disorder],,,,,,,,,, +GARD:20923,Active,Orphanet,ORPHA:264683,Group of disorders,[Category],Primary interstitial lung disease specific to childhood due to alveolar vascular disorder,[Primary ILD specific to childhood due to alveolar vascular disorder],,,,,,,,,, +GARD:20924,Active,Orphanet,ORPHA:264691,Disorder,[Disease],Isolated pulmonary capillaritis,,"Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.",,,,,,,,, +GARD:20925,Active,Orphanet,ORPHA:264694,Group of disorders,[Category],Interstitial lung disease specific to infancy,[ILD specific to infancy],,,,,,,,,, +GARD:20926,Active,Orphanet,ORPHA:264699,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a systemic disease,[Secondary ILD specific to childhood associated with a systemic disease],,,,,,,,,, +GARD:20927,Active,Orphanet,ORPHA:264704,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a connective tissue disease,[Secondary ILD specific to childhood associated with a connective tissue disease],,,,,,,,,, +GARD:20928,Active,Orphanet,ORPHA:264709,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis,[Secondary ILD specific to childhood associated with a systemic vasculitis],,,,,,,,,, +GARD:20929,Active,Orphanet,ORPHA:264714,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a granulomatous disease,[Secondary ILD specific to childhood associated with a granulomatous disease],,,,,,,,,, +GARD:20930,Active,Orphanet,ORPHA:264719,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a metabolic disease,[Secondary ILD specific to childhood associated with a metabolic disease],,,,,,,,,, +GARD:20931,Active,Orphanet,ORPHA:264735,Group of disorders,[Category],Interstitial lung disease specific to adulthood,[ILD specific to adulthood],,,,,,,,,, +GARD:20932,Active,Orphanet,ORPHA:264740,Group of disorders,[Category],Primary interstitial lung disease specific to adulthood,[Primary ILD specific to adulthood],,,,,,,,,, +GARD:20933,Active,Orphanet,ORPHA:264745,Group of disorders,[Category],Secondary interstitial lung disease specific to adulthood associated with a systemic disease,[Secondary ILD specific to adulthood associated with a systemic disease],,,,,,,,,, +GARD:20934,Active,Orphanet,ORPHA:264757,Group of disorders,[Category],Interstitial lung disease in childhood and adulthood,[ILD in childhood and adulthood],,,,,,,,,, +GARD:20935,Active,Orphanet,ORPHA:264762,Group of disorders,[Category],Primary interstitial lung disease in childhood and adulthood,[Primary ILD in childhood and adulthood],,,,,,,,,, +GARD:20936,Active,Orphanet,ORPHA:264930,Group of disorders,[Category],Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder,[Primary ILD in childhood and adulthood due to alveolar structure disorder],,,,,,,,,, +GARD:20937,Active,Orphanet,ORPHA:264935,Group of disorders,[Category],Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder,[Primary ILD in childhood and adulthood due to alveolar vascular disorder],,,,,,,,,, +GARD:20938,Active,Orphanet,ORPHA:264944,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood,[Secondary ILD in childhood and adulthood],,,,,,,,,, +GARD:20939,Active,Orphanet,ORPHA:264949,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease,[Secondary ILD in childhood and adulthood associated with a systemic disease],,,,,,,,,, +GARD:20940,Active,Orphanet,ORPHA:264968,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease,[Secondary ILD in childhood and adulthood associated with a metabolic disease],,,,,,,,,, +GARD:20941,Active,Orphanet,ORPHA:264973,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis,[Secondary ILD in childhood and adulthood associated with a systemic vasculitis],,,,,,,,,, +GARD:20942,Active,Orphanet,ORPHA:264978,Disorder,[Particular clinical situation in a disease or syndrome],Drug or radiation exposure-related interstitial lung disease,,,,,,,,,,, +GARD:20943,Active,Orphanet,ORPHA:264984,Group of disorders,[Category],Exposure-related interstitial lung disease,,,,,,,,,,, +GARD:20944,Active,Orphanet,ORPHA:264992,Group of disorders,[Category],Genetic interstitial lung disease,[Genetic ILD],,,,,,,,,, +GARD:20945,Active,Orphanet,ORPHA:268139,Disorder,[Disease],Intraocular medulloepithelioma,[Orbital medulloepithelioma],"Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.",,,,,,,,, +GARD:20946,Active,Orphanet,ORPHA:268249,Disorder,[Malformation syndrome],Mycophenolate mofetil embryopathy,[MMF embryopathy],"Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.",,,,,,,,, +GARD:20947,Active,Orphanet,ORPHA:268261,Subtype of disorder,[Etiological subtype],DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,"[21q22.13q22.2 microdeletion syndrome, Del(21)(q22.13q22.2), Monosomy 21q22.13q22.2]","A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.",,,,,,,,, +GARD:20948,Active,Orphanet,ORPHA:268316,Disorder,[Particular clinical situation in a disease or syndrome],Complication in hemodialysis,,,,,,,,,,, +GARD:20949,Active,Orphanet,ORPHA:268363,Subtype of disorder,[Clinical subtype],Open iniencephaly,,,,,,,,,,, +GARD:20950,Active,Orphanet,ORPHA:268366,Subtype of disorder,[Clinical subtype],Closed iniencephaly,,,,,,,,,,, +GARD:20951,Active,Orphanet,ORPHA:268369,Disorder,[Morphological anomaly],Spina bifida aperta,,"A rare neural tube closure defect characterized by a skin defect with exposed neural tissue in the area of the spinal column, with or without a protruding sac at the location of the defect. Signs and symptoms are variable depending on the content (only meninges or also spinal cord tissue), location, and severity of the lesion, but may include motor, sensory, and/or sphincter dysfunction, hydrocephalus, and/or skeletal anomalies (e. g. scoliosis, hemivertebrae), among others.",,,,,,,,, +GARD:20952,Active,Orphanet,ORPHA:268377,Subtype of disorder,[Clinical subtype],Total spina bifida aperta,,,,,,,,,,, +GARD:20953,Active,Orphanet,ORPHA:268384,Subtype of disorder,[Clinical subtype],Thoracolumbosacral spina bifida aperta,,,,,,,,,,, +GARD:20954,Active,Orphanet,ORPHA:268388,Subtype of disorder,[Clinical subtype],Lumbosacral spina bifida aperta,,,,,,,,,,, +GARD:20955,Active,Orphanet,ORPHA:268392,Subtype of disorder,[Clinical subtype],Cervical spina bifida aperta,,,,,,,,,,, +GARD:20956,Active,Orphanet,ORPHA:268397,Subtype of disorder,[Clinical subtype],Cervicothoracic spina bifida aperta,,,,,,,,,,, +GARD:20957,Active,Orphanet,ORPHA:268740,Subtype of disorder,[Clinical subtype],Upper thoracic spina bifida aperta,,,,,,,,,,, +GARD:20958,Active,Orphanet,ORPHA:268744,Group of disorders,[Clinical group],Spina bifida cystica,,,,,,,,,,, +GARD:20959,Active,Orphanet,ORPHA:268748,Subtype of disorder,[Clinical subtype],Total spina bifida cystica,,,,,,,,,,, +GARD:2096,Active,Orphanet,ORPHA:221054,Disorder,[Malformation syndrome],Acrocephalopolydactyly,"[Acrocephalopolydactylous dysplasia, Elejalde syndrome]","An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.",[200995],,,,,Acrocephalopolydactyly,TRUE,FALSE,Active +GARD:20960,Active,Orphanet,ORPHA:268752,Subtype of disorder,[Clinical subtype],Thoracolumbosacral spina bifida cystica,,,,,,,,,,, +GARD:20961,Active,Orphanet,ORPHA:268758,Subtype of disorder,[Clinical subtype],Lumbosacral spina bifida cystica,,,,,,,,,,, +GARD:20962,Active,Orphanet,ORPHA:268762,Subtype of disorder,[Clinical subtype],Cervical spina bifida cystica,,,,,,,,,,, +GARD:20963,Active,Orphanet,ORPHA:268766,Subtype of disorder,[Clinical subtype],Cervicothoracic spina bifida cystica,,,,,,,,,,, +GARD:20964,Active,Orphanet,ORPHA:268770,Subtype of disorder,[Clinical subtype],Upper thoracic spina bifida cystica,,,,,,,,,,, +GARD:20965,Active,Orphanet,ORPHA:268810,Disorder,[Morphological anomaly],Posterior meningocele,,"Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.",,,,,,,,, +GARD:20966,Active,Orphanet,ORPHA:268813,Disorder,[Morphological anomaly],Myelocystocele,,"A rare neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The malformation can occur anywhere along the spinal cord but appears to be more frequent in the posterior cervical and the lumbosacral region. It may be an isolated anomaly or be associated with other defects, including anorectal and genitourinary anomalies, or sacral agenesis.",,,,,,,,, +GARD:20967,Active,Orphanet,ORPHA:268817,Group of disorders,[Clinical group],Cephalocele,,,,,,,,,,, +GARD:20968,Active,Orphanet,ORPHA:268820,Disorder,[Morphological anomaly],Cranial meningocele,,"A rare central nervous system malformation characterized by herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leaking of cerebrospinal fluid.",,,,,,,,, +GARD:20969,Active,Orphanet,ORPHA:268823,Subtype of disorder,[Clinical subtype],Occipital encephalocele,,,,,,,,,,, +GARD:20970,Active,Orphanet,ORPHA:268826,Subtype of disorder,[Clinical subtype],Parietal encephalocele,,,,,,,,,,, +GARD:20971,Active,Orphanet,ORPHA:268829,Subtype of disorder,[Clinical subtype],Basal encephalocele,,,,,,,,,,, +GARD:20972,Active,Orphanet,ORPHA:268832,Group of disorders,[Clinical group],Lipoma associated with neurospinal dysraphism,,,,,,,,,,, +GARD:20973,Active,Orphanet,ORPHA:268838,Disorder,[Morphological anomaly],Leptomyelolipoma,,"Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.",,,,,,,,, +GARD:20974,Active,Orphanet,ORPHA:268843,Group of disorders,[Category],"Malformation of the neurenteric canal, spinal cord and column",,,,,,,,,,, +GARD:20975,Active,Orphanet,ORPHA:268865,Disorder,[Morphological anomaly],Neurenteric cyst,,"A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed.",,,,,,,,, +GARD:20976,Active,Orphanet,ORPHA:268868,Disorder,[Morphological anomaly],Isolated amyelia,,"A rare central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and bulky, thickened, and low-lying caudally. Clinical presentation includes varying degrees of motor weakness (associated with deformities of the lower limbs) and neurogenic bladder dysfunction.",,,,,,,,, +GARD:20977,Active,Orphanet,ORPHA:268920,Subtype of disorder,[Clinical subtype],Isolated megalencephaly,[Isolated macrencephaly],,,,,,,,,, +GARD:20978,Active,Orphanet,ORPHA:268926,Group of disorders,[Category],Midline cerebral malformation,[Midline brain malformation],,,,,,,,,, +GARD:20979,Active,Orphanet,ORPHA:268936,Disorder,[Morphological anomaly],Isolated arhinencephaly,,Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.,,,,,,,,, +GARD:2098,Active,Orphanet,ORPHA:2516,Disorder,[Malformation syndrome],Microcephaly-cardiac defect-lung malsegmentation syndrome,[Ellis-Yale-Winter syndrome],"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.",[601355],,,,,Ellis Yale Winter syndrome,TRUE,FALSE,Active +GARD:20980,Active,Orphanet,ORPHA:268943,Disorder,[Morphological anomaly],Unilateral polymicrogyria,,Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria (see these terms).,,,,,,,,, +GARD:20981,Active,Orphanet,ORPHA:268947,Subtype of disorder,[Clinical subtype],Unilateral focal polymicrogyria,,"Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.",,,,,,,,, +GARD:20982,Active,Orphanet,ORPHA:268950,Group of disorders,[Clinical group],Cerebral cortical dysplasia,[Brain cortical dysplasia],,,,,,,,,, +GARD:20983,Active,Orphanet,ORPHA:268961,Subtype of disorder,[Clinical subtype],Isolated focal cortical dysplasia type I,[FCD type I],,,,,,,,,, +GARD:20984,Active,Orphanet,ORPHA:268973,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type Ia,[FCD type Ia],,,,,,,,,, +GARD:20985,Active,Orphanet,ORPHA:268980,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type Ib,[FCD type Ib],,,,,,,,,, +GARD:20986,Active,Orphanet,ORPHA:268987,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type Ic,[FCD type Ic],,,,,,,,,, +GARD:20987,Active,Orphanet,ORPHA:269190,Group of disorders,[Clinical group],Encephaloclastic disorder,,,,,,,,,,, +GARD:20988,Active,Orphanet,ORPHA:269194,Group of disorders,[Category],Central nervous system cystic malformation,,,,,,,,,,, +GARD:20989,Active,Orphanet,ORPHA:269197,Disorder,[Morphological anomaly],Glioependymal/ependymal cyst,,"Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).",,,,,,,,, +GARD:2099,Legacy,GARD,,,,,,,,,,,,Emerinopathy,TRUE,FALSE,Active +GARD:20990,Active,Orphanet,ORPHA:269203,Disorder,[Morphological anomaly],Isolated cerebellar vermis agenesis,,"A rare, congenital, cerebellar malformation disorder characterized by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnea, and delayed gait acquisition, as well as delayed speech and language development.",,,,,,,,, +GARD:20991,Active,Orphanet,ORPHA:269206,Subtype of disorder,[Clinical subtype],Isolated total cerebellar vermis agenesis,,,,,,,,,,, +GARD:20992,Active,Orphanet,ORPHA:269209,Subtype of disorder,[Clinical subtype],Isolated partial cerebellar vermis agenesis,,,,,,,,,,, +GARD:20993,Active,Orphanet,ORPHA:269212,Subtype of disorder,[Clinical subtype],Isolated Dandy-Walker malformation with hydrocephalus,,,,,,,,,,, +GARD:20994,Active,Orphanet,ORPHA:269215,Subtype of disorder,[Clinical subtype],Isolated Dandy-Walker malformation without hydrocephalus,,,,,,,,,,, +GARD:20995,Active,Orphanet,ORPHA:269218,Disorder,[Morphological anomaly],Isolated unilateral hemispheric cerebellar hypoplasia,,"Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.",,,,,,,,, +GARD:20996,Active,Orphanet,ORPHA:269221,Disorder,[Morphological anomaly],Isolated bilateral hemispheric cerebellar hypoplasia,,"Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.",,,,,,,,, +GARD:20997,Active,Orphanet,ORPHA:269224,Group of disorders,[Category],Global cerebellar malformation,[Diffuse cerebellar malformation],,,,,,,,,, +GARD:20998,Active,Orphanet,ORPHA:269505,Subtype of disorder,[Clinical subtype],Congenital communicating hydrocephalus,[Congenital non-obstructive hydrocephalus],,,,,,,,,, +GARD:20999,Active,Orphanet,ORPHA:269523,Group of disorders,[Category],Syndrome with a cerebellar malformation as a major feature,,,,,,,,,,, +GARD:210,Legacy,GARD,,,,,,,,,,,,Ruzicka Goerz Anton syndrome,TRUE,FALSE,Active +GARD:21000,Active,Orphanet,ORPHA:269528,Group of disorders,[Category],Syndrome with microcephaly as a major feature,,,,,,,,,,, +GARD:21001,Active,Orphanet,ORPHA:269531,Group of disorders,[Category],Other syndrome with a central nervous system malformation as a major feature,,,,,,,,,,, +GARD:21002,Active,Orphanet,ORPHA:269546,Group of disorders,[Category],Syndrome with a Dandy-Walker malformation as a major feature,,,,,,,,,,, +GARD:21003,Active,Orphanet,ORPHA:269550,Group of disorders,[Category],Genetic non-syndromic central nervous system malformation,,,,,,,,,,, +GARD:21004,Active,Orphanet,ORPHA:269553,Group of disorders,[Category],Genetic cerebral malformation,[Genetic brain malformation],,,,,,,,,, +GARD:21005,Active,Orphanet,ORPHA:269557,Group of disorders,[Category],Genetic posterior fossa malformation,,,,,,,,,,, +GARD:21006,Active,Orphanet,ORPHA:269560,Group of disorders,[Category],Genetic cerebellar malformation,,,,,,,,,,, +GARD:21007,Active,Orphanet,ORPHA:269564,Group of disorders,[Category],Genetic syndrome with a central nervous system malformation as a major feature,[Genetic syndrome with a CNS malformation as major feature],,,,,,,,,, +GARD:21008,Active,Orphanet,ORPHA:269567,Group of disorders,[Category],Genetic syndrome with a cerebellar malformation as a major feature,,,,,,,,,,, +GARD:21009,Active,Orphanet,ORPHA:269570,Group of disorders,[Category],Genetic syndrome with a Dandy-Walker malformation as a major feature,,,,,,,,,,, +GARD:2101,Legacy,GARD,,,,,,,,,,,,"Emery-Dreifuss muscular dystrophy, dominant type",TRUE,FALSE,Retired +GARD:21010,Active,Orphanet,ORPHA:269573,Group of disorders,[Category],Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature,,,,,,,,,,, +GARD:21011,Active,Orphanet,ORPHA:271832,Group of disorders,[Category],Genetic soft tissue tumor,[Genetic mesenchymal tumor],,,,,,,,,, +GARD:21012,Active,Orphanet,ORPHA:271835,Group of disorders,[Category],Genetic digestive tract tumor,,,,,,,,,,, +GARD:21013,Active,Orphanet,ORPHA:271841,Group of disorders,[Category],Genetic cardiac tumor,,,,,,,,,,, +GARD:21014,Active,Orphanet,ORPHA:271844,Group of disorders,[Category],Genetic urogenital tumor,,,,,,,,,,, +GARD:21015,Active,Orphanet,ORPHA:271847,Group of disorders,[Category],Genetic neuroendocrine tumor,,,,,,,,,,, +GARD:21016,Active,Orphanet,ORPHA:271853,Group of disorders,[Category],Genetic cardiac anomaly,,,,,,,,,,, +GARD:21017,Active,Orphanet,ORPHA:271861,Group of disorders,[Clinical group],Hereditary ATTR amyloidosis,"[Familial TTR-related amyloidosis, Familial transthyretin-related amyloidosis]",,,,,,,,,, +GARD:21018,Active,Orphanet,ORPHA:271870,Group of disorders,[Category],Rare genetic systemic or rheumatologic disease,,,,,,,,,,, +GARD:21019,Active,Orphanet,ORPHA:275729,Group of disorders,[Category],Rare hemorrhagic disorder due to a constitutional thrombocytopenia,"[Rare bleeding disorder due to a constitutional thrombocytopenia, Rare bleeding disorder due to a quantitative platelet defect, Rare coagulopathy due to a constitutional thrombocytopenia, Rare coagulopathy due to a quantitative platelet defect, Rare hemorrhagic disorder due to a quantitative platelet defect]",,,,,,,,,, +GARD:2102,Active,Orphanet,ORPHA:98863,Subtype of disorder,[Etiological subtype],X-linked Emery-Dreifuss muscular dystrophy,,,"[310300, 300696]",,,,,"Emery-Dreifuss muscular dystrophy, X-linked",TRUE,FALSE,Retired +GARD:21020,Active,Orphanet,ORPHA:275736,Group of disorders,[Category],Rare hemorrhagic disorder due to a qualitative platelet defect,"[Rare bleeding disorder due to a constitutional thrombopathy, Rare bleeding disorder due to a qualitative platelet defect, Rare coagulopathy due to a constitutional thrombopathy, Rare coagulopathy due to a qualitative platelet defect, Rare hemorrhagic disorder due to a constitutional thrombopathy]",,,,,,,,,, +GARD:21021,Active,Orphanet,ORPHA:275742,Group of disorders,[Category],Genetic infertility,,,,,,,,,,, +GARD:21022,Active,Orphanet,ORPHA:275745,Group of disorders,[Category],Alpha-thalassemia and related disorders,,,,,,,,,,, +GARD:21023,Active,Orphanet,ORPHA:275749,Group of disorders,[Category],Beta-thalassemia and related diseases,,,,,,,,,,, +GARD:21024,Active,Orphanet,ORPHA:275752,Group of disorders,[Category],Sickle cell disease and related diseases,,,,,,,,,,, +GARD:21025,Active,Orphanet,ORPHA:275766,Subtype of disorder,[Etiological subtype],Idiopathic pulmonary arterial hypertension,"[IPAH, Primary pulmonary arterial hypertension]","Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.",,,,,,,,, +GARD:21026,Active,Orphanet,ORPHA:275786,Group of disorders,[Clinical group],Drug- or toxin-induced pulmonary arterial hypertension,[Drug- or toxin-induced PAH],"Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH, see this term) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.",,,,,,,,, +GARD:21027,Active,Orphanet,ORPHA:275791,Group of disorders,[Category],Pulmonary arterial hypertension associated with another disease,"[PAH associated with another disease, Secondary PAH]","Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH (see this term); connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia (see these terms),which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.",,,,,,,,, +GARD:21028,Active,Orphanet,ORPHA:275798,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with connective tissue disease,[PAH associated with connective tissue disease],A form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.,,,,,,,,, +GARD:21029,Active,Orphanet,ORPHA:275803,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with congenital heart disease,[PAH associated with congenital heart disease],"Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.",,,,,,,,, +GARD:21030,Active,Orphanet,ORPHA:275808,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with HIV infection,[PAH associated with HIV infaction],A form of pulmonary arterial hypertension characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection.,,,,,,,,, +GARD:21031,Active,Orphanet,ORPHA:275813,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with portal hypertension,"[PAH associated with portal hypertension, POPH, Portopulmonary hypertension]","Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension.",,,,,,,,, +GARD:21032,Active,Orphanet,ORPHA:275823,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with schistosomiasis,[PAH associated with schistosomiasis],"Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis (see this term).",,,,,,,,, +GARD:21033,Active,Orphanet,ORPHA:275828,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with chronic hemolytic anemia,[PAH associated with chronic hemolytic anemia],Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia.,,,,,,,,, +GARD:21034,Active,Orphanet,ORPHA:275837,Group of disorders,[Clinical group],Pulmonary hypertension owing to lung disease and/or hypoxia,"[PH due to lung disease and/or hypoxia, PH owing to lung disease and/or hypoxia, Pulmonary hypertension due to lung disease and/or hypoxia]",,,,,,,,,, +GARD:21035,Active,Orphanet,ORPHA:275844,Group of disorders,[Clinical group],Pulmonary hypertension with unclear multifactorial mechanism,[PH with unclear multifactorial mechanism],,,,,,,,,, +GARD:21036,Active,Orphanet,ORPHA:275853,Group of disorders,[Category],Syndrome with pulmonary hypertension as a major feature,,,,,,,,,,, +GARD:21037,Active,Orphanet,ORPHA:275938,Group of disorders,[Category],Hemolytic disease due to fetomaternal alloimmunization,"[HDFN, Hemolytic disease of the fetus and newborn]",,,,,,,,,, +GARD:21038,Active,Orphanet,ORPHA:275944,Disorder,[Disease],Hemolytic disease of the newborn with Kell alloimmunization,"[Anti-K HDN, Maternal anti-Kell alloimmunization]","A rare hematologic disease characterized by the transfer of maternal alloantibodies against red blood cell antigens of the Kell family to a fetus positive for this antigen across the placental barrier, causing suppression of erythropoiesis with reticulocytopenia and anemia, as well as alloimmune hemolysis. Severe anemia may lead to hydrops fetalis. Significant hyperbilirubinemia is rare in this condition.",,,,,,,,, +GARD:21039,Active,Orphanet,ORPHA:276058,Group of disorders,[Category],Genetic neurodegenerative disease with dementia,,,,,,,,,,, +GARD:2104,Active,Orphanet,ORPHA:1928,Disorder,[Morphological anomaly],Congenital lobar emphysema,"[Congenital lobar hyperinflation, Infantile lobar hyperinflation]",A respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.,[130710],,,,,Congenital lobar emphysema,TRUE,FALSE,Active +GARD:21040,Active,Orphanet,ORPHA:276061,Group of disorders,[Category],Genetic frontotemporal degeneration with dementia,,,,,,,,,,, +GARD:21041,Active,Orphanet,ORPHA:276066,Disorder,[Disease],Bile acid CoA ligase deficiency and defective amidation,,"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure.",,,,,,,,, +GARD:21042,Active,Orphanet,ORPHA:276142,Group of disorders,[Category],Rare tumor of salivary glands,,,,,,,,,,, +GARD:21043,Active,Orphanet,ORPHA:276145,Disorder,[Disease],Malignant epithelial tumor of salivary glands,,"Malignant epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, otorrhoea, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, dyspnea, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy.",,,,,,,,, +GARD:21044,Active,Orphanet,ORPHA:276161,Group of disorders,[Clinical group],Multiple endocrine neoplasia,[MEN],"Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.",,,,,,,,, +GARD:21045,Active,Orphanet,ORPHA:276174,Disorder,[Disease],Idiopathic recurrent stupor,,"A rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.",,,,,,,,, +GARD:21046,Active,Orphanet,ORPHA:276212,Subtype of disorder,[Clinical subtype],"Mucopolysaccharidosis type 6, rapidly progressing","[Arylsulfatase B deficiency, rapidly progressing, MPS6, rapidly progressing, MPSVI, rapidly progressing, Mucopolysaccharidosis type VI, rapidly progressing]",,,,,,,,,, +GARD:21047,Active,Orphanet,ORPHA:276223,Subtype of disorder,[Clinical subtype],"Mucopolysaccharidosis type 6, slowly progressing","[Arylsulfatase B deficiency, slowly progressing, MPS6, slowly progressing, MPSVI, slowly progressing, Mucopolysaccharidosis type VI, slowly progressing]",,,,,,,,,, +GARD:21048,Active,Orphanet,ORPHA:276238,Subtype of disorder,[Clinical subtype],Machado-Joseph disease type 1,"[SCA3, Joseph type, Spinocerebellar ataxia type 3, Joseph type]","Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.",,,,,,,,, +GARD:21049,Active,Orphanet,ORPHA:276241,Subtype of disorder,[Clinical subtype],Machado-Joseph disease type 2,"[SCA3, Thomas type, Spinocerebellar ataxia, Thomas type]","Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.",,,,,,,,, +GARD:21050,Active,Orphanet,ORPHA:276244,Subtype of disorder,[Clinical subtype],Machado-Joseph disease type 3,"[SCA3, Machado type, Spinocerebellar ataxia type 3, Machado type]","Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.",,,,,,,,, +GARD:21051,Active,Orphanet,ORPHA:276280,Disorder,[Malformation syndrome],Hemihyperplasia-multiple lipomatosis syndrome,[HHML],"Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.",,,,,,,,, +GARD:21052,Active,Orphanet,ORPHA:276422,Disorder,[Malformation syndrome],10q22.3q23.3 microduplication syndrome,"[Dup(10)(q22.3q23.3), Trisomy 10q22.3q23.3]","10q22.3q23.3 microduplication syndrome is a rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.",,,,,,,,, +GARD:21053,Active,Orphanet,ORPHA:276525,Group of disorders,[Category],Familial hyperinsulinism,"[FHI, Familial hyperinsulinemic hypoglycemia]",,,,,,,,,, +GARD:21054,Active,Orphanet,ORPHA:276556,Disorder,[Disease],Hyperinsulinism due to UCP2 deficiency,[Hyperinsulinemic hypoglycemia due to UCP2 deficiency],"A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.",,,,,,,,, +GARD:21055,Active,Orphanet,ORPHA:276585,Group of disorders,[Clinical group],Diazoxide-resistant hyperinsulinism,[Diazoxide-resistant hyperinsulinemic hypoglycemia],"A form of congenital isolated hyperinsulism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. Pancreatic involvement can be diffuse or focal.",,,,,,,,, +GARD:21056,Active,Orphanet,ORPHA:276608,Disorder,[Disease],Non-insulinoma pancreatogenous hypoglycemia syndrome,[NIPHS],,,,,,,,,, +GARD:21057,Active,Orphanet,ORPHA:276630,Disorder,[Malformation syndrome],Symptomatic form of Coffin-Lowry syndrome in female carriers,,"A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported.",,,,,,,,, +GARD:21058,Active,Orphanet,ORPHA:279882,Disorder,[Clinical syndrome],Spasmus nutans,,"Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.",,,,,,,,, +GARD:21059,Active,Orphanet,ORPHA:279888,Subtype of disorder,[Clinical subtype],Acute endophthalmitis,,,,,,,,,,, +GARD:2106,Legacy,GARD,,,,,,,,,,,,Enamel hypoplasia cataract hydrocephaly,TRUE,FALSE,Active +GARD:21060,Active,Orphanet,ORPHA:279891,Subtype of disorder,[Clinical subtype],Chronic endophthalmitis,,,,,,,,,,, +GARD:21061,Active,Orphanet,ORPHA:279894,Disorder,[Disease],Toxic maculopathy due to antimalarial drugs,,"Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.",,,,,,,,, +GARD:21062,Active,Orphanet,ORPHA:279897,Disorder,[Disease],Primary oculocerebral lymphoma,[Primary oculocerebral non-Hodgkin lymphoma],"Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.",,,,,,,,, +GARD:21063,Active,Orphanet,ORPHA:279904,Disorder,[Disease],Primary intraocular lymphoma,"[PIOL, Primary intraocular non-Hodgkin lymphoma]",,,,,,,,,, +GARD:21064,Active,Orphanet,ORPHA:279911,Group of disorders,[Category],Primary organ-specific lymphoma,,,,,,,,,,, +GARD:21065,Active,Orphanet,ORPHA:279914,Disorder,[Disease],Intermediate uveitis,[IU],"A rare ophthalmic disorder characterized by intraocular inflammation primarily localized to the vitreous and peripheral retina. It incorporates pars planitis, posterior cyclitis, and hyalitis. Patients present with painless floaters, decreased or blurred vision, less frequently with pain, redness, and photophobia. On examination, snow banking, vitreous snowballs, peripheral retinal vascular sheathing, vitreous cells, and vitreous haze can be seen. Complications include epiretinal membrane formation, cataract formation, cystoid macular edema, or band keratopathy, among others. The condition may be idiopathic or occur in the context of infectious or systemic diseases.",,,,,,,,, +GARD:21066,Active,Orphanet,ORPHA:279919,Disorder,[Disease],Infectious posterior uveitis,,"A rare ophthalmic disorder characterized by inflammation of the posterior uveal tract (retina and choroid), due to an infectious etiology. Presenting symptoms are decreased visual acuity, visual field defects, floaters, photopsia, photophobia, and occasionally pain. Signs on examination include conjunctival injection, keratic precipitates, retrolental cells, inflammatory infiltrates on the retina, macular edema, and peripheral retinal neovascularization, among others. Complications (such as cataracts, band keratopathy, glaucoma, cystoid macula edema, and retinal detachment) may lead to permanent vision loss.",,,,,,,,, +GARD:21067,Active,Orphanet,ORPHA:279922,Disorder,[Disease],Infectious anterior uveitis,,"A rare ophthalmic disorder characterized by inflammation primarily of the anterior part of the uvea (iris and ciliary body), due to an infectious etiology. Clinical symptoms are pain, redness, photophobia, and variable visual loss. Signs on examination include presence of inflammatory cells in the anterior chamber and anterior vitreous, keratic precipitates, hypopyon, iris nodules, posterior synechiae, and miosis, among others.",,,,,,,,, +GARD:21068,Active,Orphanet,ORPHA:279925,Disorder,[Disease],Infectious panuveitis,,"A rare ophthalmic disorder characterized by generalized inflammation of all parts of the uveal tract (iris, ciliary body, and choroid), simultaneously involving adjacent vitreous and retina, without any predominant site of inflammation, due to viral, bacterial, fungal, or parasitic infections. Clinical symptoms include pain, photophobia, redness, blurring of vision, and floaters. Signs on examination are lid edema, ciliary injection, chemosis, keratic precipitates, cells in the anterior chamber, hypopyon, iris nodules and neovascularization, posterior synechiae, macular edema, vitreous and retinal hemorrhage, and retinal detachment, among others. Complications may result in visual loss.",,,,,,,,, +GARD:21069,Active,Orphanet,ORPHA:279928,Disorder,[Disease],Paraneoplastic uveitis,,,,,,,,,,, +GARD:21070,Active,Orphanet,ORPHA:280065,Subtype of disorder,[Clinical subtype],Calciphylaxis cutis,,"A rare, life-threatening, non-inflammatory vasculopathy characterized clinically by progressive and painful skin lesions associated with calcification of cutaneous arterial microvessels. Calciphylaxis predominantly affects patients with end-stage kidney disease (ESKD) on dialysis.",,,,,,,,, +GARD:21071,Active,Orphanet,ORPHA:280068,Subtype of disorder,[Clinical subtype],Visceral calciphylaxis,,"A rare, life-threatening, non-inflammatory vasculopathy characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually causes tissue necrosis. Depending on the affected organ, patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death. The disease predominantly affects patients with end-stage kidney disease (ESKD) on dialysis.",,,,,,,,, +GARD:21072,Active,Orphanet,ORPHA:280205,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 0,"[LTEC0, Laryngo-tracheo-esophageal cleft type 0]",Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.,,,,,,,,, +GARD:21073,Active,Orphanet,ORPHA:280219,Subtype of disorder,[Clinical subtype],"Pelizaeus-Merzbacher disease, classic form",[Classic PMD],The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.,,,,,,,,, +GARD:21074,Active,Orphanet,ORPHA:280224,Subtype of disorder,[Clinical subtype],"Pelizaeus-Merzbacher disease, transitional form",[Transitional PMD],The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term).,,,,,,,,, +GARD:21075,Active,Orphanet,ORPHA:280229,Subtype of disorder,[Clinical subtype],Pelizaeus-Merzbacher disease in female carriers,,Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD (see this term) in some women carrying mutations in the PLP1 gene (Xq22).,,,,,,,,, +GARD:21076,Active,Orphanet,ORPHA:280302,Subtype of disorder,[Clinical subtype],Autoimmune pancreatitis type 1,"[AIP type 1, IgG4-related pancreatitis, Lymphoplasmacytic sclerosing pancreatitis]","Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.",,,,,,,,, +GARD:21077,Active,Orphanet,ORPHA:280315,Disorder,[Disease],Autoimmune pancreatitis type 2,"[AIP type 2, Duct-centric pancreatitis]","Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.",,,,,,,,, +GARD:21078,Active,Orphanet,ORPHA:280325,Disorder,[Malformation syndrome],Distal monosomy 12p,"[12p13.33 microdeletion syndrome, Del(12)(p13.33), Distal deletion 12p]","A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.",,,,,,,,, +GARD:21079,Active,Orphanet,ORPHA:280342,Group of disorders,[Category],Rare systemic or rheumatological disease of childhood,,,,,,,,,,, +GARD:2108,Active,Orphanet,ORPHA:2396,Disorder,[Disease],Encephalocraniocutaneous lipomatosis,[Haberland syndrome],"A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.",[613001],,,,,Encephalocraniocutaneous lipomatosis,TRUE,FALSE,Active +GARD:21080,Active,Orphanet,ORPHA:280365,Disorder,[Disease],Autosomal semi-dominant severe lipodystrophic laminopathy,,"A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.",,,,,,,,, +GARD:21081,Active,Orphanet,ORPHA:280369,Group of disorders,[Category],Rare pediatric vasculitis,,,,,,,,,,, +GARD:21082,Active,Orphanet,ORPHA:280373,Group of disorders,[Category],Rare pediatric systemic disease,,,,,,,,,,, +GARD:21083,Active,Orphanet,ORPHA:280384,Disorder,[Disease],Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,[IDMDC],"Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.",,,,,,,,, +GARD:21084,Active,Orphanet,ORPHA:280397,Disorder,[Disease],Familial Alzheimer-like prion disease,,"Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease (see this term) characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.",,,,,,,,, +GARD:21085,Active,Orphanet,ORPHA:280400,Group of disorders,[Category],Inherited human prion disease,"[Familial prion disease, Genetic human prion disease]",,,,,,,,,, +GARD:21086,Active,Orphanet,ORPHA:280403,Disorder,[Malformation syndrome],Familial omphalocele syndrome with facial dysmorphism,,"Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.",,,,,,,,, +GARD:21087,Active,Orphanet,ORPHA:280774,Disorder,[Disease],Generalized essential telangiectasia,[GET],"A rare skin disease characterized by widespread cutaneous telangiectases usually first appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or confluent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded.",,,,,,,,, +GARD:21088,Active,Orphanet,ORPHA:280785,Subtype of disorder,[Clinical subtype],Bullous diffuse cutaneous mastocytosis,[Bullous DCM],Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.,,,,,,,,, +GARD:21089,Active,Orphanet,ORPHA:280794,Subtype of disorder,[Clinical subtype],Pseudoxanthomatous diffuse cutaneous mastocytosis,"[Infiltrative small vesicular DCM, Infiltrative small vesicular diffuse cutaneous mastocytosis, Pseudoxanthomatous DCM]",Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.,,,,,,,,, +GARD:2109,Legacy,GARD,,,,,,,,,,,,Encephalocele anencephaly,TRUE,FALSE,Active +GARD:21090,Active,Orphanet,ORPHA:280802,Subtype of disorder,[Clinical subtype],Intralobar congenital pulmonary sequestration,"[Congenital intrapulmonary sequestration, Intralobar congenital bronchopulmonary sequestration]",,,,,,,,,, +GARD:21091,Active,Orphanet,ORPHA:280811,Subtype of disorder,[Clinical subtype],Extralobar congenital pulmonary sequestration,"[Congenital extrapulmonary sequestration, Extralobar congenital bronchopulmonary sequestration]",,,,,,,,,, +GARD:21092,Active,Orphanet,ORPHA:280821,Subtype of disorder,[Clinical subtype],Communicating congenital bronchopulmonary-foregut malformation,,,,,,,,,,, +GARD:21093,Active,Orphanet,ORPHA:280827,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 0,"[CPAM type 0, Congenital cystic adenomatoid malformation of the lung type 0, Congenital cystic adenomatous malformation of the lung type 0]","A rare subtype of congenital pulmonary airway malformation characterized by global arrest of lung development with small, solid appearing lungs with a diffusely granular surface, histologically featuring bronchus-like structures with smooth muscle, glands, and numerous cartilage plates, embedded in loose, vascular mesenchymal tissue. The condition presents at birth and is incompatible with life.",,,,,,,,, +GARD:21094,Active,Orphanet,ORPHA:280832,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 1,"[CCAM type 1, CPAM type 1, Congenital cystic adenomatoid malformation of the lung type 1, Congenital cystic adenomatous malformation of the lung type 1, Congenital cystic disease of the lung type 1]","A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue with one or more dominant cysts of 2 to 10 cm in diameter, which may be surrounded by smaller cysts. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Small lesions may remain asymptomatic, while most cases present with respiratory distress in the neonatal period or in infancy, or with recurrent respiratory infections later in life. Pulmonary hypoplasia and severe fetal hydrops are rare complications. The condition is associated with an increased risk of pulmonary malignancy, such as bronchoalveolar carcinoma.",,,,,,,,, +GARD:21095,Active,Orphanet,ORPHA:280840,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 2,"[CCAM type 2, CPAM type 2, Congenital cystic adenomatoid malformation of the lung type 2, Congenital cystic adenomatous malformation of the lung type 2, Congenital cystic disease of the lung type 2]","A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, consisting of small cysts of less than 2 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. The condition often presents with respiratory distress in the neonatal period or in infancy. It is frequently associated with other severe congenital anomalies, such as renal agenesis or dysgenesis, pulmonary sequestration, or cardiac abnormalities.",,,,,,,,, +GARD:21096,Active,Orphanet,ORPHA:280847,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 3,"[CCAM type 3, CPAM type 3, Congenital cystic adenomatoid malformation of the lung type 3, Congenital cystic adenomatous malformation of the lung type 3, Congenital cystic disease of the lung type 3]","A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue consisting of numerous microcysts of less than 0.5 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving an entire lobe. The condition may be associated with polyhydramnios, fetal hydrops, and stillbirth, or present with severe respiratory distress in the neonatal period.",,,,,,,,, +GARD:21097,Active,Orphanet,ORPHA:280854,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 4,"[CPAM type 4, Congenital cystic adenomatoid malformation of the lung type 4, Congenital cystic adenomatous malformation of the lung type 4]","A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, with peripheral, large, thin-walled, often multiloculated cysts, which may be 8 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Patients present with respiratory distress or respiratory infections in the neonatal period or in infancy. The condition is often associated with tension pneumothorax, signs of mediastinal shift, and malignant transformation to pleuropulmonary blastoma type 1.",,,,,,,,, +GARD:21098,Active,Orphanet,ORPHA:280914,Disorder,[Disease],Idiopathic anterior uveitis,,"A rare ophthalmic disorder characterized by intraocular inflammation with the anterior chamber as the predominant site of inflammation, without any identifiable etiology. Presenting symptoms are pain, redness, photophobia, and sometimes blurred vision. Signs on examination include anterior chamber cell and flare, limbal vascular injection, and keratic precipitates, among others.",,,,,,,,, +GARD:21099,Active,Orphanet,ORPHA:280917,Disorder,[Disease],Idiopathic posterior uveitis,,"Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.",,,,,,,,, +GARD:211,Legacy,GARD,,,,,,,,,,,,Smith-Lemli-Opitz syndrome type 2,FALSE,FALSE,Retired +GARD:21100,Active,Orphanet,ORPHA:280921,Disorder,[Disease],Idiopathic panuveitis,,"Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.",,,,,,,,, +GARD:21101,Active,Orphanet,ORPHA:280926,Group of disorders,[Category],Systemic diseases with anterior uveitis,,,,,,,,,,, +GARD:21102,Active,Orphanet,ORPHA:280930,Group of disorders,[Category],Systemic diseases with posterior uveitis,,,,,,,,,,, +GARD:21103,Active,Orphanet,ORPHA:280933,Group of disorders,[Category],Systemic diseases with panuveitis,,,,,,,,,,, +GARD:21104,Active,Orphanet,ORPHA:281082,Group of disorders,[Category],Inherited non-syndromic ichthyosis,,,,,,,,,,, +GARD:21105,Active,Orphanet,ORPHA:281085,Group of disorders,[Category],Inherited ichthyosis syndromic form,,,,,,,,,,, +GARD:21106,Active,Orphanet,ORPHA:281097,Group of disorders,[Clinical group],Autosomal recessive congenital ichthyosis,[ARCI],,,,,,,,,, +GARD:21107,Active,Orphanet,ORPHA:281103,Group of disorders,[Clinical group],Keratinopathic ichthyosis,[KPI],"A group of rare inherited non-syndromic ichthyoses characterized by mutations in keratin genes. Mutations in KRT1 and KRT10 cause most cases of epidermolytic ichthyosis (EI), as well as congenital reticular ichthyosiform erythroderma (CRIE). EI manifests at birth with generalized blistering, which later transforms into hyperkeratosis. Severe palmoplantar involvement is suggestive of the presence of a KRT1 mutation. CRIE patients present at birth with erythroderma and scaling, often with a collodion membrane, and gradually develop confetti-like clear areas of normal skin. KRT2 mutations are associated with superficial epidermolytic ichthyosis (SEI), which is clinically similar to EI, but generally milder and more localized.",,,,,,,,, +GARD:21108,Active,Orphanet,ORPHA:281127,Disorder,[Disease],Acral self-healing collodion baby,[Acral SHCB],A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.,,,,,,,,, +GARD:21109,Active,Orphanet,ORPHA:281210,Group of disorders,[Clinical group],X-linked ichthyosis syndrome,,,,,,,,,,, +GARD:21110,Active,Orphanet,ORPHA:281217,Group of disorders,[Category],Autosomal ichthyosis syndrome,,,,,,,,,,, +GARD:21111,Active,Orphanet,ORPHA:281222,Group of disorders,[Category],Autosomal ichthyosis syndrome with prominent hair abnormalities,,,,,,,,,,, +GARD:21112,Active,Orphanet,ORPHA:281238,Group of disorders,[Category],Autosomal ichthyosis syndrome with prominent neurologic signs,,,,,,,,,,, +GARD:21113,Active,Orphanet,ORPHA:281241,Group of disorders,[Category],Autosomal ichthyosis syndrome with fatal disease course,,,,,,,,,,, +GARD:21114,Active,Orphanet,ORPHA:281244,Group of disorders,[Category],Autosomal ichthyosis syndrome with other associated signs,,,,,,,,,,, +GARD:21115,Active,Orphanet,ORPHA:282124,Group of disorders,[Category],Partial deletion of chromosome 12,[Partial monosomy of chromosome 12],,,,,,,,,, +GARD:21116,Active,Orphanet,ORPHA:282196,Group of disorders,[Clinical group],Autoimmune polyendocrinopathy,"[APS, Autoimmune polyglandular syndrome]","A group of rare endocrine diseases characterized by autoimmune activity against more than one endocrine organ, with possible additional involvement of non-endocrine organs. Autoimmunity is typically directed against different target antigens in different tissues. The two more common autoimmune polyendocrine syndromes (APS), APS type 1 and type 2, have a strong genetic background and have Addison's disease as a major feature. The group furthermore includes APS type 3 and type 4.",,,,,,,,, +GARD:21117,Active,Orphanet,ORPHA:284180,Disorder,[Malformation syndrome],Xp22.13p22.2 duplication syndrome,"[Dup(X)(p22), Dup(X)(p22.13p22.2), Duplication Xp22]","Xp22.13p22.2 duplication syndrome is a rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.",,,,,,,,, +GARD:21118,Active,Orphanet,ORPHA:284362,Subtype of disorder,[Clinical subtype],Fetal lung interstitial tumor,"[FLIT, Immature interstitial mesenchymal tumor]",,,,,,,,,, +GARD:21119,Active,Orphanet,ORPHA:284385,Group of disorders,[Category],Familial intrahepatic cholestasis,,,,,,,,,,, +GARD:21120,Active,Orphanet,ORPHA:284395,Disorder,[Disease],Well-differentiated fetal adenocarcinoma of the lung,[WDFA],"Well-differentiated fetal adenocarcinoma of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.",,,,,,,,, +GARD:21121,Active,Orphanet,ORPHA:284460,Disorder,[Disease],Acute annular outer retinopathy,[AAOR],"A rare, acquired retinal disorder characterized by unilateral, acute onset, rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning, and normal retina. Gradual spontaneous visual recovery has been observed.",,,,,,,,, +GARD:21122,Active,Orphanet,ORPHA:284786,Group of disorders,[Category],Qualitative or quantitative defects of troponin,,,,,,,,,,, +GARD:21123,Active,Orphanet,ORPHA:284790,Group of disorders,[Category],Qualitative or quantitative defects of tropomyosin,,,,,,,,,,, +GARD:21124,Active,Orphanet,ORPHA:284804,Group of disorders,[Clinical group],Ocular albinism,,,,,,,,,,, +GARD:21125,Active,Orphanet,ORPHA:284811,Group of disorders,[Category],Syndromic oculocutaneous albinism,,,,,,,,,,, +GARD:21126,Active,Orphanet,ORPHA:284814,Group of disorders,[Category],Disorder of phenylalanine metabolism,,,,,,,,,,, +GARD:21127,Active,Orphanet,ORPHA:284818,Group of disorders,[Category],Disorder of tyrosine metabolism,,,,,,,,,,, +GARD:21128,Active,Orphanet,ORPHA:284979,Disorder,[Disease],Neonatal Marfan syndrome,[Neonatal MFS],"Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.",,,,,,,,, +GARD:21129,Active,Orphanet,ORPHA:284993,Group of disorders,[Category],Marfan syndrome and Marfan-related disorders,,,,,,,,,,, +GARD:2113,Active,Orphanet,ORPHA:1261,Disorder,[Malformation syndrome],Bonnemann-Meinecke-Reich syndrome,[Encephalopathy-intracerebral calcification-retinal degeneration syndrome],"Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.",[225755],,,,,Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration,TRUE,FALSE,Active +GARD:21130,Active,Orphanet,ORPHA:285014,Group of disorders,[Category],Rare disease with thoracic aortic aneurysm and aortic dissection,,,,,,,,,,, +GARD:21131,Active,Orphanet,ORPHA:285657,Group of disorders,[Category],Disorder of folate metabolism and transport,,,,,,,,,,, +GARD:21132,Active,Orphanet,ORPHA:289098,Group of disorders,[Category],Disorders of vitamin D metabolism,,,,,,,,,,, +GARD:21133,Active,Orphanet,ORPHA:289103,Group of disorders,[Clinical group],Hypocalcemic rickets,,"A group of rare genetic, vitamin D metabolism disorders characterized by hypocalcemia and rickets, and comprising of hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). Characteristic clinical features include slow growth, bone pain and bone deformities. HVDRR is associated with resistance to vitamin D treatment.",,,,,,,,, +GARD:21134,Active,Orphanet,ORPHA:289266,Disorder,[Disease],Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,,"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.",,,,,,,,, +GARD:21135,Active,Orphanet,ORPHA:289347,Disorder,[Disease],Infective dermatitis associated with HTLV-1,"[IDH, Infective dermatitis associated with human T-lymphotropic virus type 1, Infective dermatitis associated with human T-lymphotropic virus type I]","Infective dermatitis associated with HTLV-1 is a rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis (see these terms).",,,,,,,,, +GARD:21136,Active,Orphanet,ORPHA:289356,Disorder,[Disease],Primary non-gestational choriocarcinoma of ovary,"[NGCO, Primary non-gestational ovarian choriocarcinoma]","Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor (see this term), arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma (see this term) and hence should be distinguished from the latter by DNA polymorphism.",,,,,,,,, +GARD:21137,Active,Orphanet,ORPHA:289362,Subtype of disorder,[Clinical subtype],Non-central nervous system-localized embryonal carcinoma,[Non-CNS-localized embryonal carcinoma],,,,,,,,,, +GARD:21138,Active,Orphanet,ORPHA:289385,Disorder,[Particular clinical situation in a disease or syndrome],Malignancy diagnosed during pregnancy,[Cancer diagnosed during pregnancy],,,,,,,,,, +GARD:21139,Active,Orphanet,ORPHA:289478,Disorder,[Disease],Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome,[PASH syndrome],"A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.",,,,,,,,, +GARD:21140,Active,Orphanet,ORPHA:289494,Disorder,[Disease],4H leukodystrophy,[POLR-related leukodystrophy],"A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.",,,,,,,,, +GARD:21141,Active,Orphanet,ORPHA:289513,Disorder,[Malformation syndrome],12q15q21.1 microdeletion syndrome,"[Del(12)(q15)(q21.1), Deletion 12q15q21.1, Monosomy 12q15q21.1]","12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.",,,,,,,,, +GARD:21142,Active,Orphanet,ORPHA:289522,Disorder,[Malformation syndrome],Microtriplication 11q24.1,[Tetrasomy 11q24.1],"Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.",,,,,,,,, +GARD:21143,Active,Orphanet,ORPHA:289548,Disorder,[Disease],Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,,"Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.",,,,,,,,, +GARD:21144,Active,Orphanet,ORPHA:289596,Disorder,[Disease],Juvenile nasopharyngeal angiofibroma,[JNA],"Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.",,,,,,,,, +GARD:21145,Active,Orphanet,ORPHA:289635,Group of disorders,[Category],Rare virus associated tumor,,,,,,,,,,, +GARD:21146,Active,Orphanet,ORPHA:289638,Group of disorders,[Category],Epstein-Barr Virus-related tumor,[EBV-related tumor],,,,,,,,,, +GARD:21147,Active,Orphanet,ORPHA:289644,Group of disorders,[Category],Epstein-Barr virus-associated malignant lymphoproliferative disorder,[EBV-associated lymphoproliferative disorder],,,,,,,,,, +GARD:21148,Active,Orphanet,ORPHA:289651,Group of disorders,[Category],Epstein-Barr Virus-associated carcinoma,[EBV-associated carcinoma],,,,,,,,,, +GARD:21149,Active,Orphanet,ORPHA:289656,Group of disorders,[Category],Epstein-Barr Virus-associated mesenchymal tumor,[EBV-associated mesenchymal tumor],,,,,,,,,, +GARD:21150,Active,Orphanet,ORPHA:289661,Disorder,[Disease],Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly,[EBV-positive DLBCL of the elderly],"Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.",,,,,,,,, +GARD:21151,Active,Orphanet,ORPHA:289682,Disorder,[Disease],Lymphoepithelial-like carcinoma,,"Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.",,,,,,,,, +GARD:21152,Active,Orphanet,ORPHA:289685,Disorder,[Disease],Myopericytoma,,"A rare soft tissue tumor characterized by a benign subcutaneous lesion composed of oval-to-spindle shaped myoid appearing cells with a tendency for concentric perivascular growth. The tumor usually presents as a painless, slowly growing nodule, which may be solitary or appear as multiple lesions, which then arise metachronously and usually involve a particular anatomic region. Recurrence after surgical excision may occur in poorly circumscribed tumors. Malignancy is very rare.",,,,,,,,, +GARD:21153,Active,Orphanet,ORPHA:289825,Group of disorders,[Clinical group],Late-onset primary lymphedema without systemic or visceral involvement,,,,,,,,,,, +GARD:21154,Active,Orphanet,ORPHA:289829,Group of disorders,[Category],Disorder of tryptophan metabolism,,,,,,,,,,, +GARD:21155,Active,Orphanet,ORPHA:289832,Group of disorders,[Category],Disorder of lysine and hydroxylysine metabolism,,,,,,,,,,, +GARD:21156,Active,Orphanet,ORPHA:289841,Group of disorders,[Category],Disorder of glutamine metabolism,,,,,,,,,,, +GARD:21157,Active,Orphanet,ORPHA:289866,Group of disorders,[Category],Disorder of proline metabolism,,,,,,,,,,, +GARD:21158,Active,Orphanet,ORPHA:289869,Group of disorders,[Category],Disorder of ornithine metabolism,,,,,,,,,,, +GARD:21159,Active,Orphanet,ORPHA:289877,Disorder,[Particular clinical situation in a disease or syndrome],Transient hyperammonemia of the newborn,,,,,,,,,,, +GARD:21160,Active,Orphanet,ORPHA:290836,Group of disorders,[Category],Systemic disease with skin involvement,,,,,,,,,,, +GARD:21161,Active,Orphanet,ORPHA:290839,Group of disorders,[Category],Autoinflammatory syndrome with immune deficiency,,,,,,,,,,, +GARD:21162,Active,Orphanet,ORPHA:290842,Group of disorders,[Category],Autoinflammatory syndrome with skin involvement,,,,,,,,,,, +GARD:21163,Active,Orphanet,ORPHA:290849,Group of disorders,[Category],Rare head and neck tumor,,,,,,,,,,, +GARD:21164,Active,Orphanet,ORPHA:293173,Disorder,[Disease],Acute generalized exanthematous pustulosis,"[AGEP, Pustular drug eruption, Toxic pustuloderma]","A rare toxic dermatosis disease characterized by the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an edematous and erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Acute onset of fever (>38°C), peripheral blood leukocytosis, and mild eosinophilia are accompanying features. Systemic involvement, with hepatic, renal or pulmonary dysfunction, occasionally occurs. Histologically reveals characteristic spongiform, subcorneal and/or intraepidermal, pustules, as well as marked edema of the papillary dermis, a perivascularly accentuated, neutrophil-rich inflammatory infiltrate, and intrapustular or intradermal eosinophils.",,,,,,,,, +GARD:21165,Active,Orphanet,ORPHA:293199,Subtype of disorder,[Clinical subtype],Pleomorphic rhabdomyosarcoma,,"A rare soft tissue sarcoma characterized by a high-grade lesion occurring almost exclusively in adults, composed of bizarre polygonal, round, and spindle cells with evidence of skeletal muscle differentiation. Patients usually present with a rapidly growing, painful mass located in the deep soft tissues of the extremities, but also other anatomic regions. Prognosis is generally poor.",,,,,,,,, +GARD:21166,Active,Orphanet,ORPHA:293284,Subtype of disorder,[Clinical subtype],Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria,"[BH4-responsive HPA/PKU, BH4-responsive hyperphenylalaninemia/phenylketonuria, Tetrahydrobiopterin-responsive HPA/PKU]","A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase.",,,,,,,,, +GARD:21167,Active,Orphanet,ORPHA:293375,Disorder,[Disease],Grayson-Wilbrandt corneal dystrophy,[GWCD],Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.,,,,,,,,, +GARD:21168,Active,Orphanet,ORPHA:293462,Disorder,[Disease],Pre-Descemet corneal dystrophy,[PDCD],"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.",,,,,,,,, +GARD:21169,Active,Orphanet,ORPHA:293807,Disorder,[Disease],Ketamine-induced biliary dilatation,,"Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.",,,,,,,,, +GARD:2117,Legacy,GARD,,,,,,,,,,,,Encephalopathy recurrent of childhood,TRUE,FALSE,Active +GARD:21170,Active,Orphanet,ORPHA:293812,Disorder,[Disease],Fixed drug eruption,,"Fixed drug eruption is a rare toxic dermatosis disorder characterized by the appearance of a drug-induced rash which typically manifests with small (diameter less than 8 cm), erythematous, round, sometimes painful, plaques that result in long-lasting pigmentation and which recurr (usually at the same site) upon reexposure to the causative medication.",,,,,,,,, +GARD:21171,Active,Orphanet,ORPHA:293815,Group of disorders,[Category],Toxic dermatosis,,,,,,,,,,, +GARD:21172,Active,Orphanet,ORPHA:293830,Group of disorders,[Category],Constitutional dyserythropoietic anemia,,,,,,,,,,, +GARD:21173,Active,Orphanet,ORPHA:293948,Disorder,[Malformation syndrome],1p21.3 microdeletion syndrome,"[Del(1)(p21.3), Monosomy 1p21.3]","1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).",,,,,,,,, +GARD:21174,Active,Orphanet,ORPHA:293967,Disorder,[Malformation syndrome],Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,[Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome],"Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.",,,,,,,,, +GARD:21175,Active,Orphanet,ORPHA:294026,Disorder,[Malformation syndrome],Syndactyly-nystagmus syndrome due to 2q31.1 microduplication,"[Syndactyly-nystagmus syndrome due to dup(2)(q31.1), Syndactyly-nystagmus syndrome due to trisomy 2q31.1]","A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.",,,,,,,,, +GARD:21176,Active,Orphanet,ORPHA:294057,Group of disorders,[Category],Rare nevus,,,,,,,,,,, +GARD:21177,Active,Orphanet,ORPHA:294060,Group of disorders,[Clinical group],Multiple pterygium syndrome,,"A group of rare genetic disorders characterized by the presence of joint contractures and multiple soft tissue webs (pterygia) across the neck and various joints, as well as typical facial appearance and a variety of other congenital anomalies. Both lethal (lethal and X-linked lethal multiple pterygium syndrome) and non-lethal (autosomal recessive and autosomal dominant multiple pterygium syndrome) forms occur.",,,,,,,,, +GARD:21178,Active,Orphanet,ORPHA:294422,Disorder,[Clinical syndrome],Chronic intestinal failure,[CIF],"Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).",,,,,,,,, +GARD:21179,Active,Orphanet,ORPHA:294925,Group of disorders,[Clinical group],Amelia,,,,,,,,,,, +GARD:21180,Active,Orphanet,ORPHA:294927,Group of disorders,[Clinical group],Intercalary limb defects,[Intercalary meromelia],,,,,,,,,, +GARD:21181,Active,Orphanet,ORPHA:294944,Group of disorders,[Category],Congenital deformities of limbs,,,,,,,,,,, +GARD:21182,Active,Orphanet,ORPHA:294947,Group of disorders,[Category],Congenital deformities of fingers,,,,,,,,,,, +GARD:21183,Active,Orphanet,ORPHA:294949,Group of disorders,[Category],Joint formation defects,,,,,,,,,,, +GARD:21184,Active,Orphanet,ORPHA:294951,Group of disorders,[Category],Congenital joint dislocations,,,,,,,,,,, +GARD:21185,Active,Orphanet,ORPHA:294953,Group of disorders,[Category],Non syndromic limb overgrowth,,,,,,,,,,, +GARD:21186,Active,Orphanet,ORPHA:294955,Group of disorders,[Category],Syndrome with limb reduction defects,,,,,,,,,,, +GARD:21187,Active,Orphanet,ORPHA:294957,Group of disorders,[Category],Dysostosis with combined reduction defects of upper and lower limbs,,,,,,,,,,, +GARD:21188,Active,Orphanet,ORPHA:294959,Group of disorders,[Category],"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy",,,,,,,,,,, +GARD:21189,Active,Orphanet,ORPHA:294963,Group of disorders,[Clinical group],Popliteal pterygium syndrome,,,,,,,,,,, +GARD:21190,Active,Orphanet,ORPHA:294967,Disorder,[Morphological anomaly],Amelia of upper limb,,"A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.",,,,,,,,, +GARD:21191,Active,Orphanet,ORPHA:294969,Disorder,[Morphological anomaly],Amelia of lower limb,,"A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.",,,,,,,,, +GARD:21192,Active,Orphanet,ORPHA:294973,Disorder,[Morphological anomaly],Humeral agenesis/hypoplasia,"[Congenital absence of humerus, Congenital hypoplasia of humerus, Humeral intercalary meromelia]","Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.",,,,,,,,, +GARD:21193,Active,Orphanet,ORPHA:294977,Disorder,[Morphological anomaly],Congenital absence of thigh and lower leg with foot present,[Femorotibiofibular intercalary transverse meromelia],"Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.",,,,,,,,, +GARD:21194,Active,Orphanet,ORPHA:294979,Disorder,[Morphological anomaly],Congenital absence of both forearm and hand,[Radio-ulnar terminal transverse meromelia],"Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.",,,,,,,,, +GARD:21195,Active,Orphanet,ORPHA:294981,Disorder,[Morphological anomaly],Congenital absence of both lower leg and foot,[Tibiofibular terminal transverse meromelia],"Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.",,,,,,,,, +GARD:21196,Active,Orphanet,ORPHA:294983,Disorder,[Morphological anomaly],Acheiria,[Congenital absence of hand],A rare non-syndromic limb reduction defect characterized by the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral.,,,,,,,,, +GARD:21197,Active,Orphanet,ORPHA:294986,Disorder,[Morphological anomaly],Apodia,[Congenital absence of foot],"A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral.",,,,,,,,, +GARD:21198,Active,Orphanet,ORPHA:294988,Disorder,[Morphological anomaly],Congenital hypoplasia of thumb,"[Congenital absence/hypoplasia of thumb, Thumb hypodactyly, Thumb oligodactyly]","A rare congenital malformation characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.",,,,,,,,, +GARD:21199,Active,Orphanet,ORPHA:295002,Disorder,[Morphological anomaly],Hyperphalangy,"[Supernumerary phalanges, Supernumerary phalanx]","Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.",,,,,,,,, +GARD:212,Active,Orphanet,ORPHA:2709,Disorder,[Malformation syndrome],"Oculodental syndrome, Rutherfurd type","[Gingival hypertrophy-corneal dystrophy, Rutherfurd syndrome]","Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.",[180900],,,,,Rutherfurd syndrome,TRUE,FALSE,Active +GARD:21200,Active,Orphanet,ORPHA:295004,Disorder,[Morphological anomaly],Central polydactyly,[Mesoaxial polydactyly],A rare congenital limb malformation characterized by complete or partial duplication of one of the three middle digits in a hand or foot. It most commonly affects the fourth digit. The malformation may be unilateral or bilateral and can occur as an isolated defect or in association with other anomalies.,,,,,,,,, +GARD:21201,Active,Orphanet,ORPHA:295012,Disorder,[Morphological anomaly],Syndactyly type 6,"[Mitten hand, Syndactyly, mitten type, Unilateral syndactyly of digits 2-5]","A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers.",,,,,,,,, +GARD:21202,Active,Orphanet,ORPHA:295014,Disorder,[Morphological anomaly],Familial isolated clinodactyly of fingers,,"Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.",,,,,,,,, +GARD:21203,Active,Orphanet,ORPHA:295018,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the tibia,[Congenital pseudarthrosis of the tibia],"A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1.",,,,,,,,, +GARD:21204,Active,Orphanet,ORPHA:295020,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the femur,[Congenital pseudarthrosis of the femur],"A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. Congenital hip dysplasia and absence of the patella have been reported in association.",,,,,,,,, +GARD:21205,Active,Orphanet,ORPHA:295022,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the fibula,[Congenital pseudarthrosis of the fibula],"A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the tibia and neurofibromatosis type 1.",,,,,,,,, +GARD:21206,Active,Orphanet,ORPHA:295024,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the radius,[Congenital pseudarthrosis of the radius],"A rare bone development disorder characterized by abnormal bowing of the radius and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include radial deviation in the wrist joint and limited pronation and supination of the forearm. Neurofibromatosis type 1, osteofibrous dysplasia, and bowing and pseudoarthrosis of the ulna are frequently associated.",,,,,,,,, +GARD:21207,Active,Orphanet,ORPHA:295026,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the ulna,[Congenital pseudarthrosis of the ulna],"A rare bone development disorder characterized by abnormal bowing of the ulna and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include concomitant bowing of the radius, abnormalities of the humeroulnar joint, and limited pronation or supination of the forearm. Neurofibromatosis type 1 and osteofibrous dysplasia are frequently associated.",,,,,,,,, +GARD:21208,Active,Orphanet,ORPHA:295028,Disorder,[Morphological anomaly],Tibio-fibular synostosis,[Tibio-fibular fusion],"Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.",,,,,,,,, +GARD:21209,Active,Orphanet,ORPHA:295030,Disorder,[Morphological anomaly],True congenital shoulder dislocation,,"A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation.",,,,,,,,, +GARD:2121,Legacy,GARD,,,,,,,,,,,,Endomyocardial fibroelastosis,TRUE,FALSE,Retired +GARD:21210,Active,Orphanet,ORPHA:295032,Disorder,[Morphological anomaly],Isolated congenital radial head dislocation,[Isolated congenital elbow dislocation],"A rare congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis.",,,,,,,,, +GARD:21211,Active,Orphanet,ORPHA:295034,Disorder,[Morphological anomaly],Congenital knee dislocation,,"A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. Larsen's syndrome, arthrogryposis multiplex congenita).",,,,,,,,, +GARD:21212,Active,Orphanet,ORPHA:295049,Disorder,[Morphological anomaly],Upper limb hypertrophy,,,,,,,,,,, +GARD:21213,Active,Orphanet,ORPHA:295051,Disorder,[Morphological anomaly],Lower limb hypertrophy,,"A rare, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.",,,,,,,,, +GARD:21214,Active,Orphanet,ORPHA:295189,Subtype of disorder,[Clinical subtype],Zygodactyly type 2,"[SD1, Lueken type, SD1b, Syndactyly type 1, Lueken type, Syndactyly type 1b, Zygodactyly, Lueken type]",,,,,,,,,, +GARD:21215,Active,Orphanet,ORPHA:295191,Subtype of disorder,[Clinical subtype],Zygodactyly type 3,"[SD1, Montagu type, SD1c, Syndactyly type 1, Montagu type, Syndactyly type 1c, Zygodactyly, Montagu type]",,,,,,,,,, +GARD:21216,Active,Orphanet,ORPHA:295193,Subtype of disorder,[Clinical subtype],Zygodactyly type 4,"[SD1, Castilla type, SD1d, Syndactyly type 1, Castilla type, Syndactyly type 1d, Zygodactyly, Castilla type]",,,,,,,,,, +GARD:21217,Active,Orphanet,ORPHA:295201,Subtype of disorder,[Clinical subtype],"Congenital vertical talus, unilateral",,,,,,,,,,, +GARD:21218,Active,Orphanet,ORPHA:295203,Subtype of disorder,[Clinical subtype],"Congenital vertical talus, bilateral",,,,,,,,,,, +GARD:21219,Active,Orphanet,ORPHA:295213,Subtype of disorder,[Clinical subtype],"Humero-ulnar synostosis, unilateral","[Humero-ulnar fusion, unilateral]",,,,,,,,,, +GARD:21220,Active,Orphanet,ORPHA:295215,Subtype of disorder,[Clinical subtype],"Humero-ulnar synostosis, bilateral","[Humero-ulnar fusion, bilateral]",,,,,,,,,, +GARD:21221,Active,Orphanet,ORPHA:295217,Subtype of disorder,[Clinical subtype],"Radio-ulnar synostosis, unilateral","[Radio-ulnar fusion, unilateral]",,,,,,,,,, +GARD:21222,Active,Orphanet,ORPHA:295219,Subtype of disorder,[Clinical subtype],"Radio-ulnar synostosis, bilateral","[Radio-ulnar fusion, bilateral]",,,,,,,,,, +GARD:21223,Active,Orphanet,ORPHA:295225,Subtype of disorder,[Clinical subtype],"Congenital elbow dislocation, unilateral",,,,,,,,,,, +GARD:21224,Active,Orphanet,ORPHA:295227,Subtype of disorder,[Clinical subtype],"Congenital elbow dislocation, bilateral",,,,,,,,,,, +GARD:21225,Active,Orphanet,ORPHA:295229,Subtype of disorder,[Clinical subtype],Congenital genu recurvatum,,"A rare congenital knee dislocation characterized by hyperextension of the knee greater than 0° associated with limited flexion, with prominence of the femoral condyles in the popliteal fossa and increased transverse skin folds over the anterior surface of the knee. It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot) or be part of a syndrome (e. g. Larsen's syndrome).",,,,,,,,, +GARD:21226,Active,Orphanet,ORPHA:295232,Subtype of disorder,[Clinical subtype],Congenital genu flexum,,A rare congenital knee dislocation characterized by permanent knee flexion with limited extension. It can be unilateral or bilateral and may occur as an isolated malformation or be part of a syndrome (especially arthrogryposis multiplex congenita).,,,,,,,,, +GARD:21227,Active,Orphanet,ORPHA:295239,Subtype of disorder,[Clinical subtype],"Macrodactyly of fingers, unilateral","[Macrodactyly of hand, unilateral]",,,,,,,,,, +GARD:21228,Active,Orphanet,ORPHA:295241,Subtype of disorder,[Clinical subtype],"Macrodactyly of fingers, bilateral","[Macrodactyly of hand, bilateral]",,,,,,,,,, +GARD:21229,Active,Orphanet,ORPHA:295243,Subtype of disorder,[Clinical subtype],"Macrodactyly of toes, unilateral","[Macrodactyly of foot, unilateral]",,,,,,,,,, +GARD:2123,Active,Orphanet,ORPHA:1937,Disorder,[Malformation syndrome],Eng-Strom syndrome,[Short stature-locking fingers syndrome],A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.,[135950],,,,,Eng Strom syndrome,TRUE,FALSE,Retired +GARD:21230,Active,Orphanet,ORPHA:295245,Subtype of disorder,[Clinical subtype],"Macrodactyly of toes, bilateral","[Macrodactyly of foot, bilateral]",,,,,,,,,, +GARD:21231,Active,Orphanet,ORPHA:298644,Group of disorders,[Category],Disorder of thiamine metabolism and transport,,,,,,,,,,, +GARD:21232,Active,Orphanet,ORPHA:300305,Disorder,[Malformation syndrome],11p15.4 microduplication syndrome,"[Dup(11)p(15.4), Trisomy 11p15.4]","A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.",,,,,,,,, +GARD:21233,Active,Orphanet,ORPHA:300493,Disorder,[Particular clinical situation in a disease or syndrome],Sagliker syndrome,,"A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, ''brown tumors'' in the mouth, hearing loss, and neuropsychiatric disorders.",,,,,,,,, +GARD:21234,Active,Orphanet,ORPHA:300512,Disorder,[Disease],Onychomatricoma,,"Onychomatricoma is a rare, benign nail tumor originating in the nail matrix characterized by localized or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter hemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail dystrophy and dorsal pterygium may be associated. Occasionally, a pigmented lesion has been reported.",,,,,,,,, +GARD:21235,Active,Orphanet,ORPHA:300515,Group of disorders,[Category],Rare nail tumor,,,,,,,,,,, +GARD:21236,Active,Orphanet,ORPHA:300552,Disorder,[Disease],Follicular cholangitis and pancreatitis,[Follicular pancreatocholangitis],"Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.",,,,,,,,, +GARD:21237,Active,Orphanet,ORPHA:300557,Disorder,[Disease],Carcinoma of the ampulla of Vater,"[Ampullary carcinoma, Ampulloma]","Carcinoma of the ampulla of Vater is a rare malignant tumor originating from the ampulla of Vater that can present with symptoms of general fatigue, loss of appetite, weight loss, nausea, vomiting, abdominal pain and, most commonly, painless obstructive jaundice. The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. In general, carcinoma of the ampulla of Vater has a better prognosis (5-year survival rate of 45%) than cancers of the distal bile duct and pancreas.",,,,,,,,, +GARD:21238,Active,Orphanet,ORPHA:300564,Disorder,[Disease],Combined pulmonary fibrosis-emphysema syndrome,[CPFE],"A rare interstitial lung disease characterized by the coexistence of emphysema and usual interstitial pneumonia, typically occurring in male smokers. Emphysema is usually encountered in the upper lobes, preceding fibrosis of the lower lobes. Patients present with severe dyspnea and markedly reduced diffusion capacity on functional testing, while spirometric values are relatively preserved. The syndrome is frequently complicated by pulmonary hypertension and acute lung injury.",,,,,,,,, +GARD:21239,Active,Orphanet,ORPHA:300579,Group of disorders,[Category],Staphylococcal toxemia,,,,,,,,,,, +GARD:2124,Legacy,GARD,,,,,,,,,,,,Engelhard Yatziv syndrome,TRUE,FALSE,Active +GARD:21240,Active,Orphanet,ORPHA:300755,Group of disorders,[Category],Laminopathy with striated muscle involvement,,,,,,,,,,, +GARD:21241,Active,Orphanet,ORPHA:300758,Group of disorders,[Category],Laminopathy with peripheral neuropathy,,,,,,,,,,, +GARD:21242,Active,Orphanet,ORPHA:300763,Group of disorders,[Category],Laminopathy with lipodystrophy,,,,,,,,,,, +GARD:21243,Active,Orphanet,ORPHA:300766,Group of disorders,[Category],Laminopathy with premature aging,,,,,,,,,,, +GARD:21244,Active,Orphanet,ORPHA:300842,Group of disorders,[Category],Indolent B-cell non-Hodgkin lymphoma,[Indolent B-cell NHL],,,,,,,,,, +GARD:21245,Active,Orphanet,ORPHA:300846,Group of disorders,[Category],Aggressive B-cell non-Hodgkin lymphoma,[Aggressive B-cell NHL],,,,,,,,,, +GARD:21246,Active,Orphanet,ORPHA:300849,Disorder,[Disease],Diffuse large B-cell lymphoma of the central nervous system,[DLBCL of the CNS],,,,,,,,,, +GARD:21247,Active,Orphanet,ORPHA:300865,Disorder,[Disease],Primary cutaneous anaplastic large cell lymphoma,"[Primary C-ALCL, Regressive atypical histiocytosis]",Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features.,,,,,,,,, +GARD:21248,Active,Orphanet,ORPHA:300869,Disorder,[Disease],Splenic diffuse red pulp small B-cell lymphoma,"[SDRPL, Splenic diffuse red pulp lymphoma]","Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.",,,,,,,,, +GARD:21249,Active,Orphanet,ORPHA:300878,Disorder,[Disease],Hairy cell leukemia variant,"[HCL-v, Leukemic reticuloendotheliosis variant, Prolymphocytic variant of HCL, Prolymphocytic variant of hairy cell leukemia]","A rare, malignant splenic B-cell lymphoma/leukemia characterized by circulating abnormal lymphocytes with intermediate morphology between prolymphocytes and hairy cells with positive expression of CD11c and negative expression of CD25, CD123 and the BRAFV600E mutation. Manifestations include splenomegaly, elevated white blood cell (WBC) count, hyper-cellular bone marrow and anemia/thrombocytopenia, but no monocytopenia.",,,,,,,,, +GARD:2125,Active,Orphanet,ORPHA:99849,Disorder,[Disease],Glycogen storage disease due to muscle beta-enolase deficiency,"[GSD due to muscle beta-enolase deficiency, GSDXIII, Glycogenosis due to muscle beta-enolase deficiency, Glycogenosis type 13, Muscle enolase deficiency, Muscular enolase deficiency]",Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.,[612932],,,,,Glycogen storage disease type 13,TRUE,FALSE,Active +GARD:21250,Active,Orphanet,ORPHA:300888,Disorder,[Disease],Diffuse large B-cell lymphoma with chronic inflammation,[DLBCL with chronic inflammation],"Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.",,,,,,,,, +GARD:21251,Active,Orphanet,ORPHA:300895,Subtype of disorder,[Histopathological subtype],ALK-positive anaplastic large cell lymphoma,"[ALK+ ALCL, ALK+ anaplastic large cell lymphoma]","A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).",,,,,,,,, +GARD:21252,Active,Orphanet,ORPHA:300903,Subtype of disorder,[Histopathological subtype],ALK-negative anaplastic large cell lymphoma,"[ALK- ALCL, ALK- anaplastic large cell lymphoma]","A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).",,,,,,,,, +GARD:21253,Active,Orphanet,ORPHA:304055,Group of disorders,[Category],Pituitary tumor,,,,,,,,,,, +GARD:21254,Active,Orphanet,ORPHA:306516,Disorder,[Disease],Primary hypomagnesemia with hypercalciuria and nephrocalcinosis,"[FHHNC, Michellis-Castrillo syndrome]","Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms).",,,,,,,,, +GARD:21255,Active,Orphanet,ORPHA:306553,Disorder,[Disease],Myospherulosis,"[Spherulocytosis, Subcutaneous spherulocystic disease]","A rare maxillo-facial surgical disease characterized by an inflammatory, granulomatous lesion, most commonly of iatrogenic origin due to interaction of extravasated erythrocytes with exogenous lipids, in particular petrolatum-based antibiotic ointment used after surgical procedures. Most frequent locations are the paranasal sinuses and jaws, although the lesion can occur in any part of the body. It is typically found incidentally as an asymptomatic soft tissue swelling.",,,,,,,,, +GARD:21256,Active,Orphanet,ORPHA:306633,Group of disorders,[Category],Rare tumor of gallbladder and extrahepatic biliary tract,[Rare tumor of gallbladder and EBT],,,,,,,,,, +GARD:21257,Active,Orphanet,ORPHA:306636,Group of disorders,[Category],Rare tumor of liver and intrahepatic biliary tract,[Rare tumor of liver and IBT],,,,,,,,,, +GARD:21258,Active,Orphanet,ORPHA:306640,Group of disorders,[Category],Rare intoxication due to medical products,,,,,,,,,,, +GARD:21259,Active,Orphanet,ORPHA:306644,Disorder,[Particular clinical situation in a disease or syndrome],Complication after organ transplantation,,,,,,,,,,, +GARD:2126,Legacy,GARD,,,,,,,,,,,,Enolase deficiency type 1,TRUE,FALSE,Retired +GARD:21260,Active,Orphanet,ORPHA:306648,Group of disorders,[Category],Non-infectious anterior uveitis,[Non-infectious iridocyclitis],,,,,,,,,, +GARD:21261,Active,Orphanet,ORPHA:306666,Group of disorders,[Category],Rare parkinsonian syndrome due to neurodegenerative disease,,,,,,,,,,, +GARD:21262,Active,Orphanet,ORPHA:306669,Disorder,[Disease],Hemiparkinsonism-hemiatrophy syndrome,[HP-HA syndrome],"Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated.",,,,,,,,, +GARD:21263,Active,Orphanet,ORPHA:306679,Group of disorders,[Category],Rare parkinsonian syndrome due to intoxication,,,,,,,,,,, +GARD:21264,Active,Orphanet,ORPHA:306682,Disorder,[Disease],Manganese poisoning,"[Manganese intoxication, Manganism]","A rare disorder due to toxic effects characterized by a progressive, permanent affliction of the extrapyramidal system with the globus pallidus and striatum as primary targets of neurotoxic effects. Symptoms include headache, insomnia, memory loss, emotional instability, hyperreflexia, dystonia, tremor, speech disturbances, and gait abnormalities. Individual factors like age, gender, genetics, and pre-existing medical conditions appear to have a profound impact on manganese toxicity.",,,,,,,,, +GARD:21265,Active,Orphanet,ORPHA:306686,Disorder,[Disease],Delayed encephalopathy due to carbon monoxide poisoning,[Delayed encephalopathy due to CO poisoning],"A rare neurologic disease characterized by delayed onset of encephalopathy typically within a few weeks after acute carbon monoxide poisoning. The most common symptoms are cognitive impairment, personality changes, and movement disorder including parkinsonism, among others. Prognosis is good with a high rate of spontaneous recovery within a year.",,,,,,,,, +GARD:21266,Active,Orphanet,ORPHA:306692,Disorder,[Disease],Cyanide-induced parkinsonism-dystonia,,"A rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.",,,,,,,,, +GARD:21267,Active,Orphanet,ORPHA:306695,Group of disorders,[Category],Miscellaneous movement disorder due to neurodegenerative disease,,,,,,,,,,, +GARD:21268,Active,Orphanet,ORPHA:306708,Group of disorders,[Category],Frontotemporal neurodegeneration with movement disorder,,,,,,,,,,, +GARD:21269,Active,Orphanet,ORPHA:306712,Group of disorders,[Category],Rare tremor disorder,,,,,,,,,,, +GARD:2127,Legacy,GARD,,,,,,,,,,,,Enolase deficiency type 2,TRUE,FALSE,Retired +GARD:21270,Active,Orphanet,ORPHA:306715,Group of disorders,[Category],Rare choreic movement disorder,,,,,,,,,,, +GARD:21271,Active,Orphanet,ORPHA:306719,Group of disorders,[Category],Neurodegenerative disease with chorea,,,,,,,,,,, +GARD:21272,Active,Orphanet,ORPHA:306727,Group of disorders,[Category],Postinfectious autoimmune disease with chorea,,,,,,,,,,, +GARD:21273,Active,Orphanet,ORPHA:306741,Disorder,[Disease],Hemidystonia-hemiatrophy syndrome,[HD-HA syndrome],"Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.",,,,,,,,, +GARD:21274,Active,Orphanet,ORPHA:306747,Group of disorders,[Category],Rare myoclonus,,,,,,,,,,, +GARD:21275,Active,Orphanet,ORPHA:306750,Group of disorders,[Category],Primary myoclonus,,,,,,,,,,, +GARD:21276,Active,Orphanet,ORPHA:306753,Group of disorders,[Category],Rare disease with myoclonus as a major feature,,,,,,,,,,, +GARD:21277,Active,Orphanet,ORPHA:306756,Group of disorders,[Category],Epilepsy and/or ataxia with myoclonus as a major feature,,,,,,,,,,, +GARD:21278,Active,Orphanet,ORPHA:306759,Group of disorders,[Category],Non progressive epilepsy and/or ataxia with myoclonus as a major feature,,,,,,,,,,, +GARD:21279,Active,Orphanet,ORPHA:306765,Group of disorders,[Category],Motor stereotypies,,,,,,,,,,, +GARD:2128,Legacy,GARD,,,,,,,,,,,,Enolase deficiency type 3,TRUE,FALSE,Retired +GARD:21280,Active,Orphanet,ORPHA:306768,Group of disorders,[Category],Rare paroxysmal movement disorder,,,,,,,,,,, +GARD:21281,Active,Orphanet,ORPHA:306773,Group of disorders,[Clinical group],Hyperekplexia,,,,,,,,,,, +GARD:21282,Active,Orphanet,ORPHA:306776,Disorder,[Disease],Sporadic hyperekplexia,,"A rare neurologic disease characterized by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia.",,,,,,,,, +GARD:21283,Active,Orphanet,ORPHA:307052,Group of disorders,[Category],Rare genetic parkinsonian disorder,[Rare genetic hypokinetic movement disorder],,,,,,,,,, +GARD:21284,Active,Orphanet,ORPHA:307055,Group of disorders,[Category],Rare parkinsonian syndrome due to genetic neurodegenerative disease,,,,,,,,,,, +GARD:21285,Active,Orphanet,ORPHA:307058,Group of disorders,[Category],Miscellaneous movement disorder due to genetic neurodegenerative disease,,,,,,,,,,, +GARD:21286,Active,Orphanet,ORPHA:307061,Group of disorders,[Category],Rare genetic tremor disorder,,,,,,,,,,, +GARD:21287,Active,Orphanet,ORPHA:307064,Group of disorders,[Category],Rare genetic myoclonus,,,,,,,,,,, +GARD:21288,Active,Orphanet,ORPHA:307067,Group of disorders,[Category],Rare genetic disease with myoclonus as a major feature,,,,,,,,,,, +GARD:21289,Active,Orphanet,ORPHA:307141,Group of disorders,[Category],Diffuse palmoplantar keratoderma,"[Diffuse PPK, Diffuse keratosis palmoplantaris, Diffuse palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:2129,Legacy,GARD,,,,,,,,,,,,Enolase deficiency type 4,TRUE,FALSE,Retired +GARD:21290,Active,Orphanet,ORPHA:307148,Group of disorders,[Clinical group],Isolated diffuse palmoplantar keratoderma,"[Isolated diffuse PPK, Isolated diffuse keratosis palmoplantaris, Isolated diffuse palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:21291,Active,Orphanet,ORPHA:307711,Group of disorders,[Category],Disease with diffuse palmoplantar keratoderma as a major feature,[Disease with diffuse palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21292,Active,Orphanet,ORPHA:307773,Group of disorders,[Clinical group],Autosomal dominant diffuse mutilating palmoplantar keratoderma,[Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis],,,,,,,,,, +GARD:21293,Active,Orphanet,ORPHA:307804,Group of disorders,[Category],Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature,[Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21294,Active,Orphanet,ORPHA:307837,Group of disorders,[Category],Focal palmoplantar keratoderma,"[Focal PPK, Focal keratosis palmoplantaris, Focal palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:21295,Active,Orphanet,ORPHA:307846,Group of disorders,[Clinical group],Isolated focal palmoplantar keratoderma,"[Isolated focal PPK, Isolated focal keratosis palmoplantaris, Isolated focal palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:21296,Active,Orphanet,ORPHA:307871,Group of disorders,[Category],Disease with focal palmoplantar keratoderma as a major feature,[Disease with focal palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21297,Active,Orphanet,ORPHA:307967,Group of disorders,[Category],Punctate palmoplantar keratoderma,"[Punctate PPK, Punctate keratosis palmoplantaris, Punctate palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:21298,Active,Orphanet,ORPHA:307995,Group of disorders,[Clinical group],Marginal papular palmoplantar keratoderma,[Marginal papular palmoplantar hyperkeratosis],,,,,,,,,, +GARD:21299,Active,Orphanet,ORPHA:308013,Disorder,[Disease],Focal acral hyperkeratosis,"[PPKP3 without elastoidosis, PPPK3 without elastoidosis, Punctate palmoplantar hyperkeratosis type 3 without elastoidosis, Punctate palmoplantar keratoderma type 3 without elastoidosis]","A rare epidermal disease characterized by multiple, usually asymptomatic, yellowish to flesh colored hyperkeratotic papules and plaques on the palms and soles, with a preference for the palmar and plantar margins. Histological examination shows pronounced orthohyperkeratosis overlying a crateriform depression in the epidermis, with hypergranulosis and mild acanthosis, while elastorrhexis is absent. The lesions appear in the second or third decade of life and gradually increase in number over several years. The condition may be sporadic or familial.",,,,,,,,, +GARD:213,Active,Orphanet,ORPHA:1834,Disorder,[Malformation syndrome],Axial mesodermal dysplasia spectrum,"[Blastogenesis defect, Russell-Weaver-Bull syndrome]","Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.",,,,,,Axial mesodermal dysplasia spectrum,TRUE,FALSE,Active +GARD:2130,Active,Orphanet,ORPHA:292,Disorder,[Disease],Congenital enterovirus infection,"[Antenatal enterovirus infection, Mother-to-child transmission of enterovirus infection]","An infectious embryofetopathy including coxsackie viruses and ECHO viruses that have been reported to cause spontaneous abortion, stillbirth, acute systemic illness in the newborn, and possibly fetal malformations.",,,,,,Enterovirus antenatal infection,TRUE,FALSE,Active +GARD:21300,Active,Orphanet,ORPHA:308023,Group of disorders,[Category],Disease with punctate palmoplantar keratoderma as a major feature,[Disease with punctate palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21301,Active,Orphanet,ORPHA:308031,Group of disorders,[Category],Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature,[Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21302,Active,Orphanet,ORPHA:308041,Group of disorders,[Category],Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature,[Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21303,Active,Orphanet,ORPHA:308407,Group of disorders,[Category],Disorder of beta and omega amino acid metabolism,,,,,,,,,,, +GARD:21304,Active,Orphanet,ORPHA:308448,Group of disorders,[Clinical group],Aminoacylase deficiency,,,,,,,,,,, +GARD:21305,Active,Orphanet,ORPHA:308451,Group of disorders,[Category],Disorder of neutral amino acid transport,,,,,,,,,,, +GARD:21306,Active,Orphanet,ORPHA:308459,Group of disorders,[Category],Disorder of glycolysis,,,,,,,,,,, +GARD:21307,Active,Orphanet,ORPHA:308463,Group of disorders,[Category],Disorder of fructose metabolism,,,,,,,,,,, +GARD:21308,Active,Orphanet,ORPHA:308467,Group of disorders,[Category],Disorder of galactose metabolism,,,,,,,,,,, +GARD:21309,Active,Orphanet,ORPHA:308520,Group of disorders,[Clinical group],Glycogen storage disease due to glycogen synthase deficiency,"[GSD due to glycogen synthase deficiency, Glycogenosis due to glycogen synthase deficiency]",,,,,,,,,, +GARD:2131,Legacy,GARD,,,,,,,,,,,,Envenomization by bothrops lanceolatus,TRUE,FALSE,Retired +GARD:21310,Active,Orphanet,ORPHA:308552,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to acid maltase deficiency, infantile onset","[Alpha-1,4-glucosidase acid deficiency, infantile onset, GSD due to acid maltase deficiency, infantile onset, GSD type 2, infantile onset, GSD type II, infantile onset, Glycogen storage disease type 2, infantile onset, Glycogen storage disease type II, infantile onset, Glycogenosis due to acid maltase deficiency, infantile onset, Glycogenosis type 2, infantile onset, Glycogenosis type II, infantile onset, Pompe disease, infantile onset]","Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.",,,,,,,,, +GARD:21311,Active,Orphanet,ORPHA:308993,Group of disorders,[Clinical group],Glycerol kinase deficiency,,,,,,,,,,, +GARD:21312,Active,Orphanet,ORPHA:308998,Group of disorders,[Category],Disorder of glyoxylate metabolism,,,,,,,,,,, +GARD:21313,Active,Orphanet,ORPHA:309001,Group of disorders,[Category],Disorder of carbohydrate absorption and transport,,,,,,,,,,, +GARD:21314,Active,Orphanet,ORPHA:309005,Group of disorders,[Category],Disorder of lipid metabolism,,,,,,,,,,, +GARD:21315,Active,Orphanet,ORPHA:309025,Disorder,[Disease],Mevalonate kinase deficiency,[MKD],A rare inborn error of metabolism characterized by a spectrum of presentation ranging from hyperimmunoglobulinemia D with periodic fever (HIDS) to mevalonic aciduria.,,,,,,,,, +GARD:21316,Active,Orphanet,ORPHA:309028,Group of disorders,[Category],Disorder of lipid absorption and transport,,,,,,,,,,, +GARD:21317,Active,Orphanet,ORPHA:309115,Group of disorders,[Category],Disorder of fatty acid oxidation and ketogenesis,,,,,,,,,,, +GARD:21318,Active,Orphanet,ORPHA:309120,Group of disorders,[Clinical group],Acyl-CoA dehydrogenase deficiency,,,,,,,,,,, +GARD:21319,Active,Orphanet,ORPHA:309127,Group of disorders,[Clinical group],3-hydroxyacyl-CoA dehydrogenase deficiency,,,,,,,,,,, +GARD:21320,Active,Orphanet,ORPHA:309130,Group of disorders,[Category],Disorder of carnitine cycle and carnitine transport,,,,,,,,,,, +GARD:21321,Active,Orphanet,ORPHA:309133,Group of disorders,[Category],Metabolic disease due to other fatty acid oxidation disorder,,,,,,,,,,, +GARD:21322,Active,Orphanet,ORPHA:309136,Group of disorders,[Category],Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes,,,,,,,,,,, +GARD:21323,Active,Orphanet,ORPHA:309152,Group of disorders,[Clinical group],GM2 gangliosidosis,,,,,,,,,,, +GARD:21324,Active,Orphanet,ORPHA:309178,Subtype of disorder,[Clinical subtype],"Tay-Sachs disease, B variant, infantile form","[GM2 gangliosidosis, B variant, infantile form, Hexosaminidase A deficiency, infantile form]",,,,,,,,,, +GARD:21325,Active,Orphanet,ORPHA:309185,Subtype of disorder,[Clinical subtype],"Tay-Sachs disease, B variant, juvenile form","[GM2 gangliosidosis, B variant, juvenile form, Hexosaminidase A deficiency, juvenile form]",,,,,,,,,, +GARD:21326,Active,Orphanet,ORPHA:309192,Subtype of disorder,[Clinical subtype],"Tay-Sachs disease, B variant, adult form","[GM2 gangliosidosis, B variant, adult form, Hexosaminidase A deficiency, adult form]",,,,,,,,,, +GARD:21327,Active,Orphanet,ORPHA:309239,Subtype of disorder,[Clinical subtype],"Tay-Sachs disease, B1 variant","[GM2 gangliosidosis, B1 variant, Hexosaminidase A deficiency, B1 variant]",,,,,,,,,, +GARD:21328,Active,Orphanet,ORPHA:309256,Subtype of disorder,[Clinical subtype],"Metachromatic leukodystrophy, late infantile form","[Arylsulfatase A deficiency, late infantile form, MLD, late infantile form]","A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life.",,,,,,,,, +GARD:21329,Active,Orphanet,ORPHA:309263,Subtype of disorder,[Clinical subtype],"Metachromatic leukodystrophy, juvenile form","[Arylsulfatase A deficiency, juvenile form, MLD, juvenile form]","A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, spasticity, seizures, paralysis, dementia, and loss of speech, vision, and hearing, eventually resulting in complete loss of motor and cognitive skills, and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life.",,,,,,,,, +GARD:21330,Active,Orphanet,ORPHA:309271,Subtype of disorder,[Clinical subtype],"Metachromatic leukodystrophy, adult form","[Arylsulfatase A deficiency, adult form, MLD, adult form]","A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset.",,,,,,,,, +GARD:21331,Active,Orphanet,ORPHA:309294,Group of disorders,[Clinical group],Sialidosis,,"Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I (see this term), the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.",,,,,,,,, +GARD:21332,Active,Orphanet,ORPHA:309319,Group of disorders,[Category],Disorder of sialic acid metabolism,,,,,,,,,,, +GARD:21333,Active,Orphanet,ORPHA:309337,Group of disorders,[Category],Lysosomal glycogen storage disease,,,,,,,,,,, +GARD:21334,Active,Orphanet,ORPHA:309340,Group of disorders,[Category],Disorder of lysosomal-related organelles,,,,,,,,,,, +GARD:21335,Active,Orphanet,ORPHA:309347,Group of disorders,[Category],Disorder of protein N-glycosylation,,,,,,,,,,, +GARD:21336,Active,Orphanet,ORPHA:309447,Group of disorders,[Category],Disorder of protein O-glycosylation,,,,,,,,,,, +GARD:21337,Active,Orphanet,ORPHA:309450,Group of disorders,[Category],Disorder of O-xylosylglycan synthesis,,,,,,,,,,, +GARD:21338,Active,Orphanet,ORPHA:309458,Group of disorders,[Category],Disorder of O-N-acetylgalactosaminylglycan synthesis,,,,,,,,,,, +GARD:21339,Active,Orphanet,ORPHA:309463,Group of disorders,[Category],Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis,,,,,,,,,,, +GARD:2134,Legacy,GARD,,,,,,,,,,,,Idiopathic eosinophilic chronic pneumopathy (IECP),TRUE,FALSE,Retired +GARD:21340,Active,Orphanet,ORPHA:309469,Group of disorders,[Category],Disorder of O-mannosylglycan synthesis,,,,,,,,,,, +GARD:21341,Active,Orphanet,ORPHA:309505,Group of disorders,[Category],Disorder of fucoglycosan synthesis,,,,,,,,,,, +GARD:21342,Active,Orphanet,ORPHA:309515,Group of disorders,[Category],Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation,[Disorder of glycosphingolipid and GPI-anchored proteins glycosylation],,,,,,,,,, +GARD:21343,Active,Orphanet,ORPHA:309526,Group of disorders,[Category],Disorder of multiple glycosylation,,,,,,,,,,, +GARD:21344,Active,Orphanet,ORPHA:309568,Group of disorders,[Category],Defect in conserved oligomeric Golgi complex,[Defect in COG complex],,,,,,,,,, +GARD:21345,Active,Orphanet,ORPHA:309778,Group of disorders,[Category],Defect in V-ATPase,,,,,,,,,,, +GARD:21346,Active,Orphanet,ORPHA:309813,Group of disorders,[Category],Disorder of porphyrin and heme metabolism,,,,,,,,,,, +GARD:21347,Active,Orphanet,ORPHA:309816,Group of disorders,[Category],Disorder of bilirubin metabolism and excretion,,,,,,,,,,, +GARD:21348,Active,Orphanet,ORPHA:309819,Group of disorders,[Category],Disorder of pterin metabolism,,,,,,,,,,, +GARD:21349,Active,Orphanet,ORPHA:309824,Group of disorders,[Category],Disorder of metabolite absorption and transport,,,,,,,,,,, +GARD:21350,Active,Orphanet,ORPHA:309827,Group of disorders,[Category],Disorder of vitamin and non-protein cofactor absorption and transport,,,,,,,,,,, +GARD:21351,Active,Orphanet,ORPHA:309830,Group of disorders,[Category],Disorder of catecholamine synthesis,,,,,,,,,,, +GARD:21352,Active,Orphanet,ORPHA:309833,Group of disorders,[Category],Disorder of other vitamins and cofactors metabolism and transport,,,,,,,,,,, +GARD:21353,Active,Orphanet,ORPHA:309836,Group of disorders,[Category],Disorder of mineral absorption and transport,,,,,,,,,,, +GARD:21354,Active,Orphanet,ORPHA:309839,Group of disorders,[Category],Disorder of copper metabolism,,,,,,,,,,, +GARD:21355,Active,Orphanet,ORPHA:309842,Group of disorders,[Category],Disorder of iron metabolism and transport,,,,,,,,,,, +GARD:21356,Active,Orphanet,ORPHA:309845,Group of disorders,[Category],Disorder of zinc metabolism and transport,,,,,,,,,,, +GARD:21357,Active,Orphanet,ORPHA:309848,Group of disorders,[Category],Disorder of magnesium transport,,,,,,,,,,, +GARD:21358,Active,Orphanet,ORPHA:309851,Group of disorders,[Category],Disorder of manganese transport,,,,,,,,,,, +GARD:21359,Active,Orphanet,ORPHA:310050,Group of disorders,[Category],Acquired immunodeficiency,,,,,,,,,,, +GARD:2136,Legacy,GARD,,,,,,,,,,,,Epidermal nevus vitamin D resistant rickets,TRUE,FALSE,Active +GARD:21360,Active,Orphanet,ORPHA:313781,Disorder,[Malformation syndrome],20p13 microdeletion syndrome,"[20p subtelomeric deletion syndrome, Del(20)(p13), Monosomy 20p13]","20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.",,,,,,,,, +GARD:21361,Active,Orphanet,ORPHA:313906,Disorder,[Morphological anomaly],Congenital pancreatic cyst,"[Neonatal congenital pancreatic cyst, True congenital pancreatic cyst]","A rare pancreatic disease characterized by a most commonly single, unilocular, thin-walled cystic lesion which may be located anywhere within the pancreas (but is more frequently found in the body and tail) and does not communicate with the pancreatic ductal system. Patients may be asymptomatic or present with signs and symptoms of gastrointestinal or biliary obstruction, or pancreatitis. The condition can be isolated or occur in association with other anomalies (such as von Hippel-Lindau disease or polycystic kidney disease).",,,,,,,,, +GARD:21362,Active,Orphanet,ORPHA:313920,Disorder,[Disease],Epstein-Barr virus-associated gastric carcinoma,"[EBV-associated gastric carcinoma, EBVaGC]","A rare form of gastric carcinoma characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.",,,,,,,,, +GARD:21363,Active,Orphanet,ORPHA:313947,Disorder,[Malformation syndrome],2q23.1 microduplication syndrome,"[Dup(2)(q23.1), Trisomy 2q23.1]","2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.",,,,,,,,, +GARD:21364,Active,Orphanet,ORPHA:314002,Disorder,[Malformation syndrome],Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome,[Dinno syndrome],"Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.",,,,,,,,, +GARD:21365,Active,Orphanet,ORPHA:314017,Disorder,[Disease],Idiopathic linear interstitial keratitis,,"Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.",,,,,,,,, +GARD:21366,Active,Orphanet,ORPHA:314029,Disorder,[Disease],High bone mass osteogenesis imperfecta,[High bone mass OI],"High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.",,,,,,,,, +GARD:21367,Active,Orphanet,ORPHA:314034,Disorder,[Malformation syndrome],7p22.1 microduplication syndrome,"[Dup(7)(p22.1), Trisomy 7p22.1]","7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.",,,,,,,,, +GARD:21368,Active,Orphanet,ORPHA:314041,Disorder,[Malformation syndrome],Marfanoid habitus-inguinal hernia-advanced bone age syndrome,,"Marfanoid habitus-inguinal hernia-advanced bone age syndrome is a very rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).",,,,,,,,, +GARD:21369,Active,Orphanet,ORPHA:314389,Disorder,[Malformation syndrome],Xq12-q13.3 duplication syndrome,[Dup(X)(q12-q13.3)],"Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.",,,,,,,,, +GARD:2137,Active,Orphanet,ORPHA:257,Disorder,[Disease],Epidermolysis bullosa simplex with muscular dystrophy,"[EBS with muscular dystrophy, EBS-MD, Limb-girdle muscular dystrophy with epidermolysis bullosa simplex]",A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.,[226670],,,,,Epidermolysa bullosa simplex with muscular dystrophy,TRUE,FALSE,Active +GARD:21370,Active,Orphanet,ORPHA:314425,Group of disorders,[Category],Rare odontogenic tumor,,,,,,,,,,, +GARD:21371,Active,Orphanet,ORPHA:314432,Disorder,[Malformation syndrome],Spigelian hernia-cryptorchidism syndrome,,"Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.",,,,,,,,, +GARD:21372,Active,Orphanet,ORPHA:314451,Disorder,[Clinical syndrome],Meigs syndrome,[Demons-Meigs syndrome],"Meigs syndrome is a rare neoplastic disease characterized by the clinical triad of benign ovarian tumor (typically, ovarian fibroma or fibroma-like tumor), hydrothorax and ascites, which resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.",,,,,,,,, +GARD:21373,Active,Orphanet,ORPHA:314459,Disorder,[Clinical syndrome],Pseudo-Meigs syndrome,[Pseudo-Demons-Meigs syndrome],"Pseudo-Meigs syndrome is a rare neoplastic disease characterized by the presence of a benign or malignant, pelvic or abdominal tumor (other than ovarian fibroma or fibroma-like and localized outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.",,,,,,,,, +GARD:21374,Active,Orphanet,ORPHA:314466,Disorder,[Clinical syndrome],Atypical Meigs syndrome,"[Atypical Demons-Meigs syndrome, Incomplete Meigs syndrome]","A rare benign ovarian tumor characterized by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumor.",,,,,,,,, +GARD:21375,Active,Orphanet,ORPHA:314473,Disorder,[Disease],Ovarian fibroma,,"A rare benign ovarian tumor of sex cord / stromal origin characterized by an abdominal mass which may present with abdominal pain, distension, or menorrhagia, among others, or may also be asymptomatic. Association with ascites and hydrothorax is known as Meigs syndrome. The tumor can be solid and/or cystic in nature. Histologically it features bundles of spindle cells forming variable amounts of collagen, without cellular atypia or atypical mitoses.",,,,,,,,, +GARD:21376,Active,Orphanet,ORPHA:314478,Disorder,[Disease],Ovarian fibrothecoma,,"Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).",,,,,,,,, +GARD:21377,Active,Orphanet,ORPHA:314566,Disorder,[Disease],Primary progressive apraxia of speech,[PPAOS],"Primary progressive apraxia of speech is a rare neurodegenerative disease characterized by impaired planning or programming of the movements for speech, leading to phonetically and prosodically abnormal speech, in absence, at onset, of any other neurological features (such as aphasia, memory loss, pyramidal signs). Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time.",,,,,,,,, +GARD:21378,Active,Orphanet,ORPHA:314572,Disorder,[Disease],Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome,,"A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.",,,,,,,,, +GARD:21379,Active,Orphanet,ORPHA:314575,Disorder,[Malformation syndrome],Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome,,"Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.",,,,,,,,, +GARD:21380,Active,Orphanet,ORPHA:314613,Disorder,[Particular clinical situation in a disease or syndrome],Growing teratoma syndrome,,,,,,,,,,, +GARD:21381,Active,Orphanet,ORPHA:314621,Disorder,[Morphological anomaly],Duplication of the pituitary gland,"[DPG-plus syndrome, Duplication of the pituitary gland-plus syndrome, Hypophyseal duplication]","Duplication of the pituitary gland is a rare midline cerebral malformation disorder characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).",,,,,,,,, +GARD:21382,Active,Orphanet,ORPHA:314652,Disorder,[Disease],Variant ABeta2M amyloidosis,[Autosomal dominant beta2-microglobulinic amyloidosis],"A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.",,,,,,,,, +GARD:21383,Active,Orphanet,ORPHA:314655,Subtype of disorder,[Etiological subtype],Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,"[5q31.3 microdeletion syndrome, Del(5)(q31.3), Monosomy 5q31.3]",,,,,,,,,, +GARD:21384,Active,Orphanet,ORPHA:314662,Disorder,[Disease],Segmental progressive overgrowth syndrome with fibroadipose hyperplasia,,"A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.",,,,,,,,, +GARD:21385,Active,Orphanet,ORPHA:314684,Disorder,[Disease],Primary bone lymphoma,,"Primary bone lymphoma is a rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.",,,,,,,,, +GARD:21386,Active,Orphanet,ORPHA:314697,Subtype of disorder,[Etiological subtype],Acquired porencephaly,,,,,,,,,,, +GARD:21387,Active,Orphanet,ORPHA:314709,Subtype of disorder,[Clinical subtype],Primary localized amyloidosis,[Localized AL amyloidosis],,,,,,,,,, +GARD:21388,Active,Orphanet,ORPHA:314749,Group of disorders,[Category],Rare disease with Cushing syndrome as a major feature,,,,,,,,,,, +GARD:21389,Active,Orphanet,ORPHA:314753,Group of disorders,[Clinical group],Functioning pituitary adenoma,"[Endocrine active pituitary adenoma, Secreting pituitary adenoma]",,,,,,,,,, +GARD:2139,Active,Orphanet,ORPHA:231568,Disorder,[Disease],Autosomal dominant generalized dystrophic epidermolysis bullosa,[Generalized DDEB],"A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.",[131750],,,,,Dominant dystrophic epidermolysis bullosa,TRUE,FALSE,Active +GARD:21390,Active,Orphanet,ORPHA:314759,Group of disorders,[Category],Mixed functioning pituitary adenoma,[Mixed secreting pituitary adenoma],,,,,,,,,, +GARD:21391,Active,Orphanet,ORPHA:314769,Disorder,[Disease],Somatomammotropinoma,"[GH and PRL cosecreting pituitary adenoma, Growth hormone and prolactin cosecreting pituitary adenoma, Somatolactotropinoma, Somatoprolactinoma]","Somatomammotropinoma is a rare, mixed, functioning pituitary adenoma characterized by the cosecretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia.",,,,,,,,, +GARD:21392,Active,Orphanet,ORPHA:314786,Subtype of disorder,[Histopathological subtype],Silent pituitary adenoma,,,,,,,,,,, +GARD:21393,Active,Orphanet,ORPHA:314790,Subtype of disorder,[Histopathological subtype],Null pituitary adenoma,,,,,,,,,,, +GARD:21394,Active,Orphanet,ORPHA:314889,Subtype of disorder,[Clinical subtype],Autosomal dominant proximal renal tubular acidosis,[AD pRTA],A rare autosomal dominant form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.,,,,,,,,, +GARD:21395,Active,Orphanet,ORPHA:314950,Disorder,[Disease],Primary hypereosinophilic syndrome,"[Clonal hypereosinophilic syndrome, HES-M, HES-N, Neoplastic hypereosinophilic syndrome, Primary HES]","A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by clonal eosinophils derived from neoplastic stem cells in the absence of any secondary cause of eosinophilia and persisting for at least six months. The condition is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations, among others.",,,,,,,,, +GARD:21396,Active,Orphanet,ORPHA:314962,Disorder,[Disease],Secondary hypereosinophilic syndrome,"[HES-R, Reactive hypereosinophilic syndrome, Secondary HES]","A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by reactive/non-clonal eosinophils secondary to an underlying medical condition and persisting for at least six months. The disorder can derive from non-neoplastic conditions (such as chronic infections and infestations, allergic reactions, intoxications, or autoimmune and chronic inflammatory disorders) or from neoplasms including non-myeloid malignancies, among others. It is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and most commonly include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations.",,,,,,,,, +GARD:21397,Active,Orphanet,ORPHA:314970,Subtype of disorder,[Clinical subtype],Lymphocytic hypereosinophilic syndrome,"[HES-L, Lymphocytic variant HES, Lymphoid HES]",,,,,,,,,, +GARD:21398,Active,Orphanet,ORPHA:315306,Subtype of disorder,[Clinical subtype],"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form","[Classic 21-OHD CAH, salt wasting form]","A form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females and normal genitalia in males in association with glucocorticoid insufficiency with salt-wasting due to aldosterone deficiency, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height.",,,,,,,,, +GARD:21399,Active,Orphanet,ORPHA:315311,Subtype of disorder,[Clinical subtype],"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form","[Classic 21-OHD CAH, simple virilizing form]","A form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females, and normal genitalia in males in association with glucocorticoid insufficiency with absence of salt-wasting, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. Females have a normal uterus and various degrees of abnormal vaginal development.",,,,,,,,, +GARD:21400,Active,Orphanet,ORPHA:315350,Group of disorders,[Category],Autoimmune disease with skin involvement,,,,,,,,,,, +GARD:21401,Active,Orphanet,ORPHA:316226,Group of disorders,[Clinical group],Spastic ataxia,[SPAX],,,,,,,,,, +GARD:21402,Active,Orphanet,ORPHA:316235,Group of disorders,[Category],Autosomal dominant spastic ataxia,[AD-SPAX],,,,,,,,,, +GARD:21403,Active,Orphanet,ORPHA:316240,Group of disorders,[Category],Autosomal recessive spastic ataxia,[AR-SPAX],,,,,,,,,, +GARD:21404,Active,Orphanet,ORPHA:316244,Group of disorders,[Category],Partial deletion of the short arm of chromosome 12,"[Partial deletion of chromosome 12p, Partial monosomy of chromosome 12p, Partial monosomy of the short arm of chromosome 12]",,,,,,,,,, +GARD:21405,Active,Orphanet,ORPHA:317416,Group of disorders,[Clinical group],T-B+ severe combined immunodeficiency,[T-B+ SCID],"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.",,,,,,,,, +GARD:21406,Active,Orphanet,ORPHA:317419,Group of disorders,[Clinical group],T-B- severe combined immunodeficiency,[T-B- SCID],"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.",,,,,,,,, +GARD:21407,Active,Orphanet,ORPHA:319192,Disorder,[Morphological anomaly],Diencephalic-mesencephalic junction dysplasia,,"Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.",,,,,,,,, +GARD:21408,Active,Orphanet,ORPHA:319195,Disorder,[Disease],Chondroectodermal dysplasia with night blindness,,"Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.",,,,,,,,, +GARD:21409,Active,Orphanet,ORPHA:319205,Subtype of disorder,[Etiological subtype],Bilateral massive adrenal hemorrhage,"[BMAH, Bilateral adrenal hemorrhage]",,,,,,,,,, +GARD:2141,Active,Orphanet,ORPHA:79396,Disorder,[Disease],"Autosomal dominant generalized epidermolysis bullosa simplex, severe form","[Autosomal dominant generalized EBS, severe form, Epidermolysis bullosa simplex herpetiformis, Epidermolysis bullosa simplex, Dowling-Meara type]","Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.",[131760],,,,,"Epidermolysis bullosa simplex, Dowling-Meara type",TRUE,FALSE,Active +GARD:21410,Active,Orphanet,ORPHA:319213,Disorder,[Disease],Lujo hemorrhagic fever,[Zambian hemorrhagic fever],"Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.",,,,,,,,, +GARD:21411,Active,Orphanet,ORPHA:319223,Disorder,[Disease],Argentine hemorrhagic fever,"[Argentinian hemorrhagic fever, Junin hemorrhagic fever]","A disorder that caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.",,,,,,,,, +GARD:21412,Active,Orphanet,ORPHA:319229,Disorder,[Disease],Bolivian hemorrhagic fever,[Machupo hemorrhagic fever],"Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.",,,,,,,,, +GARD:21413,Active,Orphanet,ORPHA:319234,Disorder,[Disease],Venezuelan hemorrhagic fever,[Guanarito hemorrhagic fever],"Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.",,,,,,,,, +GARD:21414,Active,Orphanet,ORPHA:319239,Disorder,[Disease],Brazilian hemorrhagic fever,[Sabia hemorrhagic fever],"Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.",,,,,,,,, +GARD:21415,Active,Orphanet,ORPHA:319244,Disorder,[Disease],Chapare hemorrhagic fever,,"Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.",,,,,,,,, +GARD:21416,Active,Orphanet,ORPHA:319251,Disorder,[Disease],Rift valley fever,,"Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.",,,,,,,,, +GARD:21417,Active,Orphanet,ORPHA:319287,Subtype of disorder,[Histopathological subtype],Multilocular cystic renal neoplasm of low malignant potential,"[MCRCC, Multilocular clear cell adenocarcinoma, Multilocular clear cell carcinoma, Multilocular clear cell renal cell adenocarcinoma, Multilocular clear cell renal cell carcinoma, Multilocular cystic renal cell adenocarcinoma, Multilocular cystic renal cell carcinoma]","Multilocular cystic renal neoplasm of low malignant potential is a rare subtype of clear cell renal cell carcinoma with distinct pathological features of cysts lined by occasionally flattened cuboidal clear cells and septa containing aggregates of epithelial cells with clear cytoplasm, and excellent prognosis. The tumor usually presents as an asymptomatic, unilateral, solitary lesion, macroscopically consisting of numerous, fluid-filled, septated cysts of variable size. Rarely, the symptoms typically associated with renal tumors (flank pain, hematuria, palpable mass) may be present.",,,,,,,,, +GARD:21418,Active,Orphanet,ORPHA:319322,Disorder,[Disease],Mucinous tubular and spindle cell renal carcinoma,,"Mucinous tubular and spindle cell renal carcinoma is a rare subtype of renal cell carcinoma characterized, histologically, by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and, macroscopically, by a solid, generally well-circumscribed, partially encapsulated tumor of variable size, with a homogenously colored, bulging cut surface, occassionally containing areas of hemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, adbominal mass and/or hematuria, however most are asymptomatic and tumor is discovered incidentally. Indolent behavior is frequent and association with nephrolithiasis and end-stage kidney disease has been noted.",,,,,,,,, +GARD:21419,Active,Orphanet,ORPHA:319325,Disorder,[Disease],Tubulocystic renal cell carcinoma,,"Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (""bubble wrap-like"") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported.",,,,,,,,, +GARD:21420,Active,Orphanet,ORPHA:319328,Group of disorders,[Category],Inherited renal cancer-predisposing syndrome,,,,,,,,,,, +GARD:21421,Active,Orphanet,ORPHA:319494,Group of disorders,[Clinical group],Familial nonmedullary thyroid carcinoma,,A rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.,,,,,,,,, +GARD:21422,Active,Orphanet,ORPHA:319535,Group of disorders,[Category],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency,[Autosomal recessive MSMD due to a complete deficiency],"A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.",,,,,,,,, +GARD:21423,Active,Orphanet,ORPHA:319539,Group of disorders,[Category],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency,[Autosomal recessive MSMD due to a partial deficiency],A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to autosomal recessive mutations in the IFNGR1 and IFNGR2 genes which lead to a residual response of IFN-gamma.,,,,,,,,, +GARD:21424,Active,Orphanet,ORPHA:319543,Group of disorders,[Category],Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency,[Autosomal dominant MSMD due to a partial deficiency],"A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).",,,,,,,,, +GARD:21425,Active,Orphanet,ORPHA:319589,Disorder,[Disease],Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,"[Autosomal dominant MSMD due to partial IFNgammaR2 deficiency, Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency]","A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",,,,,,,,, +GARD:21426,Active,Orphanet,ORPHA:319667,Disorder,[Disease],Primary lymphoma of the conjunctiva,[Primary lymphoid conjunctival tumor],"Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.",,,,,,,,, +GARD:21427,Active,Orphanet,ORPHA:319719,Group of disorders,[Category],Autoinflammatory syndrome of childhood,,,,,,,,,,, +GARD:21428,Active,Orphanet,ORPHA:320332,Group of disorders,[Clinical group],X-linked pure spastic paraplegia,,,,,,,,,,, +GARD:21429,Active,Orphanet,ORPHA:320335,Group of disorders,[Clinical group],Pure or complex hereditary spastic paraplegia,"[Pure or complex familial spastic paraplegia, Pure or complicated familial spastic paraplegia, Pure or complicated hereditary spastic paraplegia]",,,,,,,,,, +GARD:2143,Active,Orphanet,ORPHA:79405,Disorder,[Disease],Junctional epidermolysis bullosa inversa,"[JEB inversa, JEB-I]","A rare intermediate form of junctional epidermolysis bullosa characterized by congenital blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.",[226650],,,,,Junctional epidermolysis bullosa inversa,TRUE,FALSE,Active +GARD:21430,Active,Orphanet,ORPHA:320342,Group of disorders,[Clinical group],Pure or complex autosomal dominant spastic paraplegia,[Pure or complicated autosomal dominant spastic paraplegia],,,,,,,,,, +GARD:21431,Active,Orphanet,ORPHA:320346,Group of disorders,[Clinical group],Pure or complex autosomal recessive spastic paraplegia,[Pure or complicated autosomal recessive spastic paraplegia],,,,,,,,,, +GARD:21432,Active,Orphanet,ORPHA:320350,Group of disorders,[Clinical group],Pure or complex X-linked spastic paraplegia,[Pure or complicated X-linked spastic paraplegia],,,,,,,,,, +GARD:21433,Active,Orphanet,ORPHA:320360,Disorder,[Disease],MT-ATP6-related mitochondrial spastic paraplegia,"[Maternally-inherited SPG, Maternally-inherited spastic paraplegia]","MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.",,,,,,,,, +GARD:21434,Active,Orphanet,ORPHA:322126,Group of disorders,[Category],Genetic tumor of hematopoietic and lymphoid tissues,,,,,,,,,,, +GARD:21435,Active,Orphanet,ORPHA:324299,Disorder,[Disease],Multiple paragangliomas associated with polycythemia,"[Multiple paragangliomas associated with erythrocytosis, Paraganglioma-somatostatinoma-polycythemia syndrome]","A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple parangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.",,,,,,,,, +GARD:21436,Active,Orphanet,ORPHA:324307,Disorder,[Disease],Severe lateral tibial bowing with short stature,,"Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.",,,,,,,,, +GARD:21437,Active,Orphanet,ORPHA:324313,Disorder,[Malformation syndrome],9p13 microdeletion syndrome,"[Del(9)(p13), Monosomy 9p13]","9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).",,,,,,,,, +GARD:21438,Active,Orphanet,ORPHA:324353,Disorder,[Morphological anomaly],Congenital achiasma,,"Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.",,,,,,,,, +GARD:21439,Active,Orphanet,ORPHA:324364,Disorder,[Disease],Mixed sclerosing bone dystrophy with extra-skeletal manifestations,,"A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated.",,,,,,,,, +GARD:21440,Active,Orphanet,ORPHA:324381,Disorder,[Disease],Hereditary inclusion body myopathy type 4,[HIBM4],"Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.",,,,,,,,, +GARD:21441,Active,Orphanet,ORPHA:324416,Disorder,[Malformation syndrome],Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome,,"Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.",,,,,,,,, +GARD:21442,Active,Orphanet,ORPHA:324525,Disorder,[Disease],Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation,"[Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation, Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation]","A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.",,,,,,,,, +GARD:21443,Active,Orphanet,ORPHA:324540,Disorder,[Malformation syndrome],Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,"[Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome, Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.",,,,,,,,, +GARD:21444,Active,Orphanet,ORPHA:324575,Disorder,[Disease],Hyperinsulinism due to HNF1A deficiency,[Hyperinsulinemic hypoglycemia due to HNF1A deficiency],"Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.",,,,,,,,, +GARD:21445,Active,Orphanet,ORPHA:324581,Disorder,[Disease],Benign Samaritan congenital myopathy,,"Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.",,,,,,,,, +GARD:21446,Active,Orphanet,ORPHA:324585,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,[Autosomal dominant intermediate CMT disease with neuropathic pain],"A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.",,,,,,,,, +GARD:21447,Active,Orphanet,ORPHA:324611,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,[CMT2 due to KIF5A mutation],"A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.",,,,,,,,, +GARD:21448,Active,Orphanet,ORPHA:324632,Disorder,[Disease],Hendra virus infection,,"Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.",,,,,,,,, +GARD:21449,Active,Orphanet,ORPHA:324648,Disorder,[Disease],Invasive non-typhoidal salmonellosis,"[Invasive non-typhoidal salmonella disease, iNTS disease]","Invasive non-typhoidal salmonellosis is a rare, bacterial, infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed.",,,,,,,,, +GARD:21450,Active,Orphanet,ORPHA:324761,Group of disorders,[Clinical group],Microcephalic primordial dwarfism,,,,,,,,,,, +GARD:21451,Active,Orphanet,ORPHA:324764,Group of disorders,[Clinical group],Trichorhinophalangeal syndrome,,,,,,,,,,, +GARD:21452,Active,Orphanet,ORPHA:324767,Group of disorders,[Category],Non-familial rare disease with dilated cardiomyopathy,,,,,,,,,,, +GARD:21453,Active,Orphanet,ORPHA:324924,Group of disorders,[Category],Hereditary periodic fever syndrome,,,,,,,,,,, +GARD:21454,Active,Orphanet,ORPHA:324927,Group of disorders,[Category],Pyogenic autoinflammatory syndrome,,,,,,,,,,, +GARD:21455,Active,Orphanet,ORPHA:324930,Group of disorders,[Category],Granulomatous autoinflammatory syndrome,,,,,,,,,,, +GARD:21456,Active,Orphanet,ORPHA:324933,Group of disorders,[Category],Mixed autoinflammatory and autoimmune syndrome,,"Mixed autoinflammatory and autoimmune syndrome is a group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincally with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems.",,,,,,,,, +GARD:21457,Active,Orphanet,ORPHA:324936,Group of disorders,[Category],Unclassified autoinflammatory syndrome,,,,,,,,,,, +GARD:21458,Active,Orphanet,ORPHA:324939,Group of disorders,[Category],Periodic fever syndrome of childhood,,,,,,,,,,, +GARD:21459,Active,Orphanet,ORPHA:324942,Group of disorders,[Category],Pyogenic autoinflammatory syndrome of childhood,,,,,,,,,,, +GARD:2146,Active,Orphanet,ORPHA:79400,Disorder,[Disease],Localized epidermolysis bullosa simplex,"[EBS-loc, Epidermolysis bullosa simplex of palms and soles, Epidermolysis bullosa simplex, Weber-Cockayne type, Localized EBS]","Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.",[131800],,,,,"Epidermolysis bullosa simplex, localized",TRUE,FALSE,Active +GARD:21460,Active,Orphanet,ORPHA:324950,Group of disorders,[Category],Granulomatous autoinflammatory syndrome of childhood,,,,,,,,,,, +GARD:21461,Active,Orphanet,ORPHA:324953,Group of disorders,[Category],Unclassified autoinflammatory syndrome of childhood,,,,,,,,,,, +GARD:21462,Active,Orphanet,ORPHA:324960,Group of disorders,[Category],Unexplained periodic fever syndrome of childhood,,,,,,,,,,, +GARD:21463,Active,Orphanet,ORPHA:325055,Group of disorders,[Category],"46,XX disorder of gonadal development",,,,,,,,,,, +GARD:21464,Active,Orphanet,ORPHA:325061,Group of disorders,[Category],"46,XX disorder of sex development induced by fetoplacental androgens excess","[46,XX DSD induced by fetoplacental androgens excess]",,,,,,,,,, +GARD:21465,Active,Orphanet,ORPHA:325093,Group of disorders,[Clinical group],"46,XX disorder of sex development induced by endogenous maternal-derived androgen","[46,XX DSD induced by endogenous maternal-derived androgen]",,,,,,,,,, +GARD:21466,Active,Orphanet,ORPHA:325099,Group of disorders,[Clinical group],"46,XX disorder of sex development induced by exogenous maternal-derived androgen","[46,XX DSD induced by exogenous maternal-derived androgen]",,,,,,,,,, +GARD:21467,Active,Orphanet,ORPHA:325109,Group of disorders,[Category],"Syndrome with 46,XX disorder of sex development","[Syndrome with 46,XX DSD]",,,,,,,,,, +GARD:21468,Active,Orphanet,ORPHA:325118,Group of disorders,[Category],"46,XY disorder of gonadal development",,,,,,,,,,, +GARD:21469,Active,Orphanet,ORPHA:325345,Disorder,[Disease],"46,XY ovotesticular disorder of sex development","[46,XY ovotesticular DSD]","46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.",,,,,,,,, +GARD:2147,Active,Orphanet,ORPHA:79399,Disorder,[Disease],"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form","[Autosomal dominant generalized EBS, intermediate form, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex, Köbner type]","Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.",[131900],,,,,"Epidermolysis bullosa simplex, generalized",TRUE,FALSE,Active +GARD:21470,Active,Orphanet,ORPHA:325351,Group of disorders,[Category],"46,XY disorder of sex development of endocrine origin","[46,XY DSD of endocrine origin]",,,,,,,,,, +GARD:21471,Active,Orphanet,ORPHA:325357,Group of disorders,[Category],"46,XY disorder of sex development due to impaired androgen production","[46,XY DSD due to impaired androgen production]",,,,,,,,,, +GARD:21472,Active,Orphanet,ORPHA:325511,Group of disorders,[Category],"46,XY disorder of sex development due to a cholesterol synthesis defect","[46,XY DSD due to a cholesterol synthesis defect]",,,,,,,,,, +GARD:21473,Active,Orphanet,ORPHA:325524,Subtype of disorder,[Clinical subtype],Classic congenital lipoid adrenal hyperplasia due to STAR deficency,[Classic CLAH],,,,,,,,,, +GARD:21474,Active,Orphanet,ORPHA:325529,Subtype of disorder,[Clinical subtype],Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency,,,,,,,,,,, +GARD:21475,Active,Orphanet,ORPHA:325537,Group of disorders,[Category],"46,XY disorder of sex development induced by maternal exposure to endocrine disruptors","[46,XY DSD induced by maternal-exposure to endocrine disruptors]",,,,,,,,,, +GARD:21476,Active,Orphanet,ORPHA:325546,Group of disorders,[Category],Sex chromosome disorder of sex development,[Sex chromosome DSD],,,,,,,,,, +GARD:21477,Active,Orphanet,ORPHA:325620,Group of disorders,[Category],Disorder of sex development of gynecological interest,[DSD of gynecological interest],,,,,,,,,, +GARD:21478,Active,Orphanet,ORPHA:325632,Group of disorders,[Category],"46,XY disorder of sex development of gynecological interest","[46,XY DSD of gynecological interest]",,,,,,,,,, +GARD:21479,Active,Orphanet,ORPHA:325638,Group of disorders,[Category],Syndrome with disorder of sex development of gynecological interest,[Syndrome with DSD of gynecological interest],,,,,,,,,, +GARD:2148,Active,Orphanet,ORPHA:79401,Disorder,[Disease],PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,[PLEC-related intermediate EBS without extracutaneous involvement],"A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.",[131950],,,,,"Epidermolysis bullosa simplex, Ogna type",TRUE,FALSE,Active +GARD:21480,Active,Orphanet,ORPHA:325665,Group of disorders,[Category],Genetic disorder of sex development of gynecological interest,[Genetic DSD of gynecological interest],,,,,,,,,, +GARD:21481,Active,Orphanet,ORPHA:325690,Group of disorders,[Category],Genetic disorder of sex development,[Genetic DSD],,,,,,,,,, +GARD:21482,Active,Orphanet,ORPHA:325697,Group of disorders,[Category],"Genetic 46,XX disorder of sex development","[Genetic 46,XX DSD]",,,,,,,,,, +GARD:21483,Active,Orphanet,ORPHA:325706,Group of disorders,[Category],"Genetic 46,XY disorder of sex development","[Genetic 46,XY DSD]",,,,,,,,,, +GARD:21484,Active,Orphanet,ORPHA:325713,Group of disorders,[Category],"Genetic 46,XY disorder of sex development of endocrine origin","[Genetic 46,XY DSD of endocrine origin]",,,,,,,,,, +GARD:21485,Active,Orphanet,ORPHA:329217,Disorder,[Disease],Cerebral sinovenous thrombosis,[CSVT],"A rare, potentially life-threatening, circulatory system disease characterized by variable signs and symptoms which may include headache, seizures, altered mental status, intracranial hypertension and cavernous sinus syndrome, among others.",,,,,,,,, +GARD:21486,Active,Orphanet,ORPHA:329249,Subtype of disorder,[Etiological subtype],Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,,"A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.",,,,,,,,, +GARD:21487,Active,Orphanet,ORPHA:329319,Disorder,[Disease],Thrombocythemia with distal limb defects,"[Familial thrombocytosis with transverse limb defect, Hereditary thrombocytosis with transverse limb defect]","Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.",,,,,,,,, +GARD:21488,Active,Orphanet,ORPHA:329324,Disorder,[Disease],Inverse Klippel-Trénaunay syndrome,[Cutaneous hemangioma with muscle or bone atrophy],,,,,,,,,, +GARD:21489,Active,Orphanet,ORPHA:329329,Disorder,[Malformation syndrome],Autosomal recessive frontotemporal pachygyria,,"A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.",,,,,,,,, +GARD:21490,Active,Orphanet,ORPHA:329469,Subtype of disorder,[Clinical subtype],Acute megakaryoblastic leukemia without Down syndrome,[Non-DS-AMKL],,,,,,,,,, +GARD:21491,Active,Orphanet,ORPHA:329475,Disorder,[Disease],Spastic paraplegia-Paget disease of bone syndrome,,"Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.",,,,,,,,, +GARD:21492,Active,Orphanet,ORPHA:329478,Disorder,[Disease],Adult-onset distal myopathy due to VCP mutation,,"A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.",,,,,,,,, +GARD:21493,Active,Orphanet,ORPHA:329813,Disorder,[Malformation syndrome],Mosaic genome-wide paternal uniparental disomy,"[Androgenetic/biparental mosaicism, Genome-wide paternal uniparental disomy mosaicism, Mosaic genome-wide paternal UPD]","A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.",,,,,,,,, +GARD:21494,Active,Orphanet,ORPHA:329874,Disorder,[Disease],Idiopathic giant cell myocarditis,[IGCM],"A rare cardiomyopathy characterized by progressive myocarditis with diffuse infiltration of cardiac tissue by lymphocytes, macrophages, multinuclear giant cells, and myocardial necrosis. Clinical presentation includes rapidly progressive heart failure, ventricular arrhythmias, complete heart block, and sudden cardiac death. Some patients have associated autoimmune disorders.",,,,,,,,, +GARD:21495,Active,Orphanet,ORPHA:329883,Disorder,[Disease],Non-hypoproteinemic hypertrophic gastropathy,[Hypertrophic gastropathy without hypoproteinemia],"Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.",,,,,,,,, +GARD:21496,Active,Orphanet,ORPHA:329888,Group of disorders,[Category],Juvenile idiopathic inflammatory myopathy,[JIIM],,,,,,,,,, +GARD:21497,Active,Orphanet,ORPHA:329894,Disorder,[Disease],Juvenile overlap myositis,,"A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.",,,,,,,,, +GARD:21498,Active,Orphanet,ORPHA:329942,Disorder,[Disease],Transient neonatal multiple acyl-CoA dehydrogenase deficiency,"[Transient neonatal MAD deficiency, Transient neonatal MADD, Transient neonatal glutaric acidemia type 2, Transient neonatal glutaric aciduria type 2]","Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.",,,,,,,,, +GARD:21499,Active,Orphanet,ORPHA:329967,Disorder,[Disease],Intermittent hydrarthrosis,,"A rare rheumatologic disease characterized by recurrent self-remitting episodes of acute monoarticular arthritis, often with a fixed periodicity, typically affecting the knee or another large joint, which develops an effusion over 12 to 24 hours with only mild to moderate pain and minimal signs of inflammation. Attacks last three to five days and may parallel menses in females. Systemic symptoms are absent, and no joint damage occurs.",,,,,,,,, +GARD:215,Active,Orphanet,ORPHA:1768,Disorder,[Malformation syndrome],Familial caudal dysgenesis,[Rudd-Klimek syndrome],"A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.",,,,,,Familial caudal dysgenesis,TRUE,FALSE,Active +GARD:2150,Active,Orphanet,ORPHA:303,Group of disorders,[Clinical group],Dystrophic epidermolysis bullosa,"[DEB, Dermolytic epidermolysis bullosa, Epidermolysis bullosa dystrophica]","A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB.",,,,,,Dystrophic epidermolysis bullosa,TRUE,FALSE,Active +GARD:21500,Active,Orphanet,ORPHA:329977,Subtype of disorder,[Clinical subtype],Classic neuroendocrine tumor of appendix,"[Classic appendiceal neuroendocrine tumor, Classic appendix neuroendocrine tumor]","A rare endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. It is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.",,,,,,,,, +GARD:21501,Active,Orphanet,ORPHA:330001,Disorder,[Disease],Wild type ATTR amyloidosis,"[ATTRwt amyloidosis, ATTRwt-related amyloidosis, Senile systemic amyloidosis, Wild type ATTR-related amyloidosis]","A common form of systemic amyloidosis characterized by deposition of wild type transthyretin predominantly in the heart and the soft tissues (mainly the carpal tunnel region, lumbar canal and tendons).",,,,,,,,, +GARD:21502,Active,Orphanet,ORPHA:330012,Disorder,[Particular clinical situation in a disease or syndrome],High altitude pulmonary edema,,"A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.",,,,,,,,, +GARD:21503,Active,Orphanet,ORPHA:330015,Disorder,[Disease],Lead poisoning,"[Lead intoxication, Plumbism, Saturnism]","Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.",,,,,,,,, +GARD:21504,Active,Orphanet,ORPHA:330029,Disorder,[Disease],Hypotrichosis-deafness syndrome,[Hypotrichosis-hearing loss syndrome],"A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.",,,,,,,,, +GARD:21505,Active,Orphanet,ORPHA:330032,Disorder,[Disease],Hemoglobin Lepore-beta-thalassemia syndrome,"[HbLepore-beta-thalassemia syndrome, Lepore-beta-thalassemia syndrome]","A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.",,,,,,,,, +GARD:21506,Active,Orphanet,ORPHA:330064,Disorder,[Disease],Chronic actinic dermatitis,"[Actinic reticuloid, Chronic photosensitivity dermatitis]","Chronic actinic dermatitis (CAD) is an immunologically mediated photodermatosis usually observed in temperate climates and that typically develops in middle-aged to elderly males. CAD is characterized by eczematous and often lichenified pruritic patches and confluent plaques located predominantly on sun-exposed areas with notable sparing of eyelids, skin folds, and postauricular skin. It is often accompanied by multiple contact allergies and usually occurs in a background of either atopic, contact allergic, or seborrheic dermatitis, although it can occur de novo. Resolution of photosensitivity is reported in up to 50% of individuals after 15 years or more, with contact allergies persisting.",,,,,,,,, +GARD:21507,Active,Orphanet,ORPHA:330206,Group of disorders,[Category],Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability,"[Genetic MCA, Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)]",,,,,,,,,, +GARD:21508,Active,Orphanet,ORPHA:331184,Group of disorders,[Category],Constitutional neutropenia with extra-hematopoietic manifestations,,,,,,,,,,, +GARD:21509,Active,Orphanet,ORPHA:331193,Group of disorders,[Category],Other immunodeficiency syndromes due to defects in innate immunity,,,,,,,,,,, +GARD:2151,Legacy,GARD,,,,,,,,,,,,Junctional epidermolysis bullosa generalized intermediate,TRUE,FALSE,Active +GARD:21510,Active,Orphanet,ORPHA:331217,Group of disorders,[Category],Syndrome with combined immunodeficiency,,,,,,,,,,, +GARD:21511,Active,Orphanet,ORPHA:331220,Group of disorders,[Category],Immunodeficiency due to absence of thymus,,,,,,,,,,, +GARD:21512,Active,Orphanet,ORPHA:331232,Group of disorders,[Category],Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells,,,,,,,,,,, +GARD:21513,Active,Orphanet,ORPHA:331240,Group of disorders,[Category],Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells,,,,,,,,,,, +GARD:21514,Active,Orphanet,ORPHA:331244,Group of disorders,[Category],Other immunodeficiency syndrome with predominantly antibody defects,,,,,,,,,,, +GARD:21515,Active,Orphanet,ORPHA:331249,Group of disorders,[Category],Immunodeficiency syndrome with hypopigmentation,,,,,,,,,,, +GARD:21516,Active,Orphanet,ORPHA:352301,Group of disorders,[Category],"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis",,,,,,,,,,, +GARD:21517,Active,Orphanet,ORPHA:352306,Group of disorders,[Category],"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement",,,,,,,,,,, +GARD:21518,Active,Orphanet,ORPHA:352309,Group of disorders,[Category],"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement",,,,,,,,,,, +GARD:21519,Active,Orphanet,ORPHA:352312,Group of disorders,[Category],"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement",,,,,,,,,,, +GARD:2152,Active,Orphanet,ORPHA:305,Group of disorders,[Clinical group],Junctional epidermolysis bullosa,"[Epidermolysis bullosa atrophicans, JEB]","A group of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.",,,,,,Junctional epidermolysis bullosa,TRUE,FALSE,Active +GARD:21520,Active,Orphanet,ORPHA:352456,Group of disorders,[Category],Mitochondrial DNA maintenance syndrome,[mtDNA maintenance syndrome],,,,,,,,,, +GARD:21521,Active,Orphanet,ORPHA:352530,Disorder,[Disease],Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,[Autosomal recessive intellectual disability due to TRAPPC9 deficiency],"Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.",,,,,,,,, +GARD:21522,Active,Orphanet,ORPHA:352587,Disorder,[Disease],Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,[Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome],"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.",,,,,,,,, +GARD:21523,Active,Orphanet,ORPHA:352629,Disorder,[Disease],16q24.1 microdeletion syndrome,"[Del(16)(q24.1), Monosomy 16q24.1]","A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).",,,,,,,,, +GARD:21524,Active,Orphanet,ORPHA:352636,Disorder,[Disease],Phalangeal microgeodic syndrome,[Phalangeal osteolysis],"A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.",,,,,,,,, +GARD:21525,Active,Orphanet,ORPHA:352641,Disorder,[Disease],Autosomal recessive cerebellar ataxia with late-onset spasticity,[Autosomal recessive cerebellar ataxia due to GBA2 deficiency],"A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.",,,,,,,,, +GARD:21526,Active,Orphanet,ORPHA:352665,Subtype of disorder,[Etiological subtype],Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,"[9q21.3 microdeletion syndrome, Del(9)(q21.3)]",,,,,,,,,, +GARD:21527,Active,Orphanet,ORPHA:352723,Disorder,[Disease],Attenuated Chédiak-Higashi syndrome,[Atypical Chédiak-Higashi syndrome],"A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.",,,,,,,,, +GARD:21528,Active,Orphanet,ORPHA:352728,Group of disorders,[Category],Disorder of melanin metabolism,,,,,,,,,,, +GARD:21529,Active,Orphanet,ORPHA:352734,Subtype of disorder,[Clinical subtype],Minimal pigment oculocutaneous albinism type 1,"[MP OCA type 1, OCA1-MP]","An extremely rare form of Oculocutaneous albinism type 1 with minimal pigment present, characterized by blond hair (white at birth), variable iris transillumination (blue irides at birth followed by minimal development of pigment during the first decade of life), visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.",,,,,,,,, +GARD:2153,Active,Orphanet,ORPHA:79404,Disorder,[Disease],Severe generalized junctional epidermolysis bullosa,"[Epidermolysis bullosa letalis, JEB-H, Junctional epidermolysis bullosa generalisata gravis, Junctional epidermolysis bullosa, Herlitz type, Junctional epidermolysis bullosa, Herlitz-Pearson type, Severe generalized JEB]","A severe form of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.",[226700],,,,,"Junctional epidermolysis bullosa, Herlitz type",TRUE,FALSE,Active +GARD:21530,Active,Orphanet,ORPHA:353334,Disorder,[Morphological anomaly],Congenital retinal arteriovenous communication,"[Congenital arteriovenous anastomoses of the retina, Congenital arteriovenous communication of the retina, Congenital retinal arteriovenous anastomoses]","A rare neurovascular malformation characterized by a unilateral, direct communication between the arterial and venous system in the retina via abnormal, enlarged vessels, but without interposed capillaries. The inferotemporal vasculature is most commonly affected. Patients may be asymptomatic or present with variable degrees of visual loss. Local vascular complications include vascular occlusions or retinal or vitreous hemorrhages. The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present.",,,,,,,,, +GARD:21531,Active,Orphanet,ORPHA:353344,Disorder,[Disease],Idiopathic macular telangiectasia type 1,"[Aneurysmal telangiectasia, Visible and exudative idiopathic juxtafoveolar retinal telangiectasis]","Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.",,,,,,,,, +GARD:21532,Active,Orphanet,ORPHA:353351,Disorder,[Disease],Idiopathic macular telangiectasia type 3,[Occlusive idiopathic juxtafoveolar retinal telangiectasis],"Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.",,,,,,,,, +GARD:21533,Active,Orphanet,ORPHA:353356,Disorder,[Disease],Vasoproliferative tumor of the retina,"[Retinal vasoproliferative tumor, VPTR, Vasoproliferative tumor of the ocular fundus]","Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.",,,,,,,,, +GARD:21534,Active,Orphanet,ORPHA:356947,Disorder,[Malformation syndrome],3q26q27 microdeletion syndrome,"[Del(3)(q26q27), Monosomy 3q26q27]","3q26q27 microdeletion syndrome is a rare partial autosomal monosomy syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported.",,,,,,,,, +GARD:21535,Active,Orphanet,ORPHA:357107,Subtype of disorder,[Clinical subtype],Arterial thoracic outlet syndrome,"[ATOS, Arterial TOS, Arterial cervical rib syndrome, Arterial costoclavicular syndrome, Arterial hyperabduction syndrome, Arterial scalenus anticus syndrome, Arterial thoracic outlet compression syndrome]",A form of thoracic outlet syndrome that presents as unilateral upper extremity ischemia.,,,,,,,,, +GARD:21536,Active,Orphanet,ORPHA:357131,Subtype of disorder,[Clinical subtype],Venous thoracic outlet syndrome,"[Effort subclavian vein thrombosis, Paget-Schrotter disease, VTOS, Venous TOS, Venous cervical rib syndrome, Venous costoclavicular syndrome, Venous hyperabduction syndrome, Venous scalenus anticus syndrome, Venous thoracic outlet compression syndrome]",Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS; see this term) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.,,,,,,,,, +GARD:21537,Active,Orphanet,ORPHA:357220,Disorder,[Disease],Primary essential cutis verticis gyrata,,"Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.",,,,,,,,, +GARD:21538,Active,Orphanet,ORPHA:357225,Disorder,[Disease],Primary non-essential cutis verticis gyrata,,"Primary non-essential cutis verticis gyrata is a rare, genetic, dermis disorder characterized by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy).",,,,,,,,, +GARD:21539,Active,Orphanet,ORPHA:357502,Group of disorders,[Clinical group],Idiopathic nephrotic syndrome,,"A rare primary glomerular group of diseases characterized by the triad of edema, massive, or nephrotic-range, proteinuria and hypoalbuminemia, for which there is no known cause. Depending on response to treatment, disease is distinguished into steroid-sensitive nephrotic syndrome (SSNS) and steroid-resistant nephrotic syndrome (SRNS), with the latter being further divided, depending on occurrence, into familial or sporadic forms.",,,,,,,,, +GARD:21540,Active,Orphanet,ORPHA:357506,Group of disorders,[Category],Genetic non-syndromic renal or urinary tract malformation,,,,,,,,,,, +GARD:21541,Active,Orphanet,ORPHA:363189,Group of disorders,[Category],Congenital anomaly of the great veins,,,,,,,,,,, +GARD:21542,Active,Orphanet,ORPHA:363203,Group of disorders,[Category],Ring chromosome,,,,,,,,,,, +GARD:21543,Active,Orphanet,ORPHA:363245,Group of disorders,[Category],Genetic progeroid syndrome,,,,,,,,,,, +GARD:21544,Active,Orphanet,ORPHA:363250,Group of disorders,[Category],Ciliopathy,,,,,,,,,,, +GARD:21545,Active,Orphanet,ORPHA:363294,Group of disorders,[Category],Genetic syndromic Pierre Robin syndrome,,,,,,,,,,, +GARD:21546,Active,Orphanet,ORPHA:363300,Group of disorders,[Category],Genetic intractable diarrhea of infancy,,,,,,,,,,, +GARD:21547,Active,Orphanet,ORPHA:363306,Group of disorders,[Category],Genetic intestinal disease due to fat malabsorption,,,,,,,,,,, +GARD:21548,Active,Orphanet,ORPHA:363314,Group of disorders,[Category],Genetic intestinal polyposis,[Familial intestinal polyposis],,,,,,,,,, +GARD:21549,Active,Orphanet,ORPHA:363472,Group of disorders,[Category],Tumor of testis and paratestis,[Testicular and paratesticular tumor],,,,,,,,,, +GARD:2155,Active,Orphanet,ORPHA:79410,Subtype of disorder,[Clinical subtype],"Localized dystrophic epidermolysis bullosa, pretibial form","[DEB-Pt, Localized DEB, pretibial form]","A form of localized dystrophic epidermolysis bullosa characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the anterior lower legs (pretibial areas and feet), the hands and nails. Individual lesions, which tend to be papular or plaque-like, are often violaceous. Pruritus is possible. Healing of blisters is associated with hypertrophic scarring and milia formation. Dystrophy of both fingernails and toenails is characteristic.",[131850],,,,,Pretibial epidermolysis bullosa,TRUE,FALSE,Active +GARD:21550,Active,Orphanet,ORPHA:363478,Disorder,[Disease],Paratesticular adenocarcinoma,[Adenocarcinoma of the paratestis],"A rare, locally invasive or malignant, urogenital tumor characterized by a gland-forming epithelial neoplasm arising from paratesticular structures, typically manifesting with a palpable scrotal mass, with or without hydrocele, and/or testicular pain.",,,,,,,,, +GARD:21551,Active,Orphanet,ORPHA:363489,Disorder,[Disease],Sex cord-stromal tumor of testis,[Testicular sex cord-stromal tumor],"A group of rare tumors of testis comprising neoplasms of pure sex cord or pure stromal type, or neoplasms with admixtures of both components in various proportions and degree of differentiation. The tumors usually present as a painless testicular mass, although some may be associated with endocrine manifestations such as precocious puberty, gynecomastia, or erectile dysfunction. Malignant behavior is seen only in a small percentage of these tumors.",,,,,,,,, +GARD:21552,Active,Orphanet,ORPHA:363549,Disorder,[Disease],Acute encephalopathy with biphasic seizures and late reduced diffusion,"[AESD, AIEF, Acute infantile encephalopathy predominantly affecting the frontal lobes]","A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.",,,,,,,,, +GARD:21553,Active,Orphanet,ORPHA:363567,Group of disorders,[Clinical group],Acute encephalopathy with inflammation-mediated status epilepticus,,,,,,,,,,, +GARD:21554,Active,Orphanet,ORPHA:363582,Group of disorders,[Category],Gonadal germ cell tumor,,,,,,,,,,, +GARD:21555,Active,Orphanet,ORPHA:363618,Disorder,[Disease],LMNA-related cardiocutaneous progeria syndrome,[LCPS],"LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.",,,,,,,,, +GARD:21556,Active,Orphanet,ORPHA:363659,Disorder,[Malformation syndrome],20q11.2 microduplication syndrome,[Dup(20)(q11.2)],"20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.",,,,,,,,, +GARD:21557,Active,Orphanet,ORPHA:363680,Disorder,[Malformation syndrome],2p13.2 microdeletion syndrome,[Del(2)(p13.2)],"A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.",,,,,,,,, +GARD:21558,Active,Orphanet,ORPHA:363746,Disorder,[Disease],Balint syndrome,"[Balint-Holmes syndrome, Optic ataxia-gaze apraxia-simultanagnosia syndrome]","Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.",,,,,,,,, +GARD:21559,Active,Orphanet,ORPHA:363965,Subtype of disorder,[Etiological subtype],Koolen-De Vries syndrome due to a point mutation,,,,,,,,,,, +GARD:2156,Legacy,GARD,,,,,,,,,,,,"Palmoplantar keratoderma, epidermolytic",TRUE,FALSE,Retired +GARD:21560,Active,Orphanet,ORPHA:363969,Disorder,[Disease],Autosomal recessive cerebral atrophy,,"A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.",,,,,,,,, +GARD:21561,Active,Orphanet,ORPHA:364013,Subtype of disorder,[Clinical subtype],Immune hydrops fetalis,"[IHF, Immune HF, Immune fetal edema, Immune fetal hydrops]","Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.",,,,,,,,, +GARD:21562,Active,Orphanet,ORPHA:364033,Disorder,[Disease],Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood,"[Systemic EBV+ T-cell LPD of childhood, Systemic EBV-positive T-cell lymphoproliferative disease of childhood]","A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.",,,,,,,,, +GARD:21563,Active,Orphanet,ORPHA:364039,Disorder,[Disease],Hydroa vacciniforme-like lymphoma,"[Angiocentric cutaneous T-cell lymphoma of childhood, HVLL, Hydroa-like cutaneous T-cell lymphoma]","A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.",,,,,,,,, +GARD:21564,Active,Orphanet,ORPHA:364043,Disorder,[Disease],ALK-positive large B-cell lymphoma,"[ALK+ LBCL, ALK+ large B-cell lymphoma]","A very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.",,,,,,,,, +GARD:21565,Active,Orphanet,ORPHA:364055,Disorder,[Disease],Severe early-childhood-onset retinal dystrophy,"[EOSRD, Early-onset severe retinal dystrophy, SECORD]","Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.",,,,,,,,, +GARD:21566,Active,Orphanet,ORPHA:364198,Disorder,[Morphological anomaly],Bipartite talus,,"A rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.",,,,,,,,, +GARD:21567,Active,Orphanet,ORPHA:364526,Group of disorders,[Category],Primary bone dysplasia,"[Primary osteodysplasia, Primary skeletal dysplasia]",,,,,,,,,, +GARD:21568,Active,Orphanet,ORPHA:364531,Group of disorders,[Category],"Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments","[Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments, Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments]",,,,,,,,,, +GARD:21569,Active,Orphanet,ORPHA:364536,Group of disorders,[Category],Primary bone dysplasia with micromelia,"[Primary osteodysplasia with micromelia, Primary skeletal dysplasia with micromelia]",,,,,,,,,, +GARD:21570,Active,Orphanet,ORPHA:364541,Group of disorders,[Clinical group],Otopalatodigital syndrome spectrum disorder,"[OPD spectrum disorder, OPSD]","Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.",,,,,,,,, +GARD:21571,Active,Orphanet,ORPHA:364559,Group of disorders,[Category],Dysostosis,,,,,,,,,,, +GARD:21572,Active,Orphanet,ORPHA:364568,Group of disorders,[Category],Dysostosis with limb anomaly as a major feature,,,,,,,,,,, +GARD:21573,Active,Orphanet,ORPHA:364571,Group of disorders,[Category],Dysostosis with limb and face anomalies as a major feature,,,,,,,,,,, +GARD:21574,Active,Orphanet,ORPHA:364574,Group of disorders,[Clinical group],Acrofacial dysostosis,,,,,,,,,,, +GARD:21575,Active,Orphanet,ORPHA:364803,Group of disorders,[Category],Rare bone disease related to a common gene or pathway defect,,,,,,,,,,, +GARD:21576,Active,Orphanet,ORPHA:364817,Group of disorders,[Category],Aggrecan-related bone disorder,,,,,,,,,,, +GARD:21577,Active,Orphanet,ORPHA:364820,Group of disorders,[Category],TRPV4-related bone disorder,,,,,,,,,,, +GARD:21578,Active,Orphanet,ORPHA:365563,Group of disorders,[Clinical group],Primary short bowel syndrome,,,,,,,,,,, +GARD:21579,Active,Orphanet,ORPHA:369847,Disorder,[Disease],Intellectual disability-hyperkinetic movement-truncal ataxia syndrome,,"A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported.",,,,,,,,, +GARD:21580,Active,Orphanet,ORPHA:369873,Subtype of disorder,[Etiological subtype],Obesity due to SIM1 deficiency,,"A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.",,,,,,,,, +GARD:21581,Active,Orphanet,ORPHA:369881,Disorder,[Malformation syndrome],2p21 microdeletion syndrome without cystinuria,[Del(2)(p21) without cystinuria],"2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.",,,,,,,,, +GARD:21582,Active,Orphanet,ORPHA:369886,Group of disorders,[Clinical group],Homozygous 2p21 microdeletion syndrome,[2p21 contiguous gene deletion syndrome],,,,,,,,,, +GARD:21583,Active,Orphanet,ORPHA:369950,Disorder,[Disease],Intellectual disability-seizures-macrocephaly-obesity syndrome,[Der(8)t(8;12)],"Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.",,,,,,,,, +GARD:21584,Active,Orphanet,ORPHA:369979,Disorder,[Malformation syndrome],Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome,,"Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is a rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces.",,,,,,,,, +GARD:21585,Active,Orphanet,ORPHA:370010,Disorder,[Malformation syndrome],Intellectual disability-facial dysmorphism-hand anomalies syndrome,,"Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.",,,,,,,,, +GARD:21586,Active,Orphanet,ORPHA:370015,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Isidor type",,"Spondyloepimetaphyseal dysplasia, Isidor type is rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genum varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.",,,,,,,,, +GARD:21587,Active,Orphanet,ORPHA:370019,Disorder,[Disease],"Spondylometaphyseal dysplasia, Czarny-Ratajczak type",,"Spondylometaphyseal dysplasia, Czarny-Ratajczak type is a rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying) which is more severe in the femur and forearm bones than the metacarpals and phalanges, and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions, and severe platyspondyly.",,,,,,,,, +GARD:21588,Active,Orphanet,ORPHA:370026,Disorder,[Disease],Acute myeloid leukemia with t(8;16)(p11;p13) translocation,[AML with t(8;16)(p11;p13) translocation],"A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.",,,,,,,,, +GARD:21589,Active,Orphanet,ORPHA:370034,Subtype of disorder,[Clinical subtype],Familial syringomyelia,,,,,,,,,,, +GARD:2159,Legacy,GARD,,,,,,,,,,,,Benign familial neonatal epilepsy,TRUE,FALSE,Active +GARD:21590,Active,Orphanet,ORPHA:370039,Disorder,[Disease],Angora hair nevus,[Schauder syndrome],"A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko's lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported.",,,,,,,,, +GARD:21591,Active,Orphanet,ORPHA:370046,Disorder,[Disease],Didymosis aplasticosebacea,[Aplasia cutis congenita-nevus sebaceus syndrome],Didymosis aplasticosebacea is a rare skin disorder characterized by the co-ocurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.,,,,,,,,, +GARD:21592,Active,Orphanet,ORPHA:370052,Disorder,[Disease],SCALP syndrome,"[Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome, Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome]","SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement.",,,,,,,,, +GARD:21593,Active,Orphanet,ORPHA:370059,Disorder,[Disease],NEVADA syndrome,[Nevus epidermicus verrucosus with angiodysplasia and aneurysms],"A rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.",,,,,,,,, +GARD:21594,Active,Orphanet,ORPHA:370068,Group of disorders,[Clinical group],Fetal anticonvulsant syndrome,"[FACS, Fetal AEDS, Fetal antiepileptic drug syndrome]",,,,,,,,,, +GARD:21595,Active,Orphanet,ORPHA:370076,Disorder,[Malformation syndrome],Fetal carbamazepine syndrome,,"Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.",,,,,,,,, +GARD:21596,Active,Orphanet,ORPHA:370106,Group of disorders,[Category],Rare disorder with dystonia and other neurologic or systemic manifestation,,,,,,,,,,, +GARD:21597,Active,Orphanet,ORPHA:370109,Disorder,[Disease],Ataxia-telangiectasia variant,[v-AT],"A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.",,,,,,,,, +GARD:21598,Active,Orphanet,ORPHA:370127,Disorder,[Disease],Medich giant platelet syndrome,[Medich macrothrombocytopenia],Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.,,,,,,,,, +GARD:21599,Active,Orphanet,ORPHA:370930,Disorder,[Disease],XYLT1-CDG,,"XYLT1-CDG is a rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophyrs and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs.",,,,,,,,, +GARD:216,Active,Orphanet,ORPHA:1323,Disorder,[Malformation syndrome],Camptodactyly-joint contractures-facial skeletal defects syndrome,[Rozin camptodactyly syndrome],"A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).",[602612],,,,,Rozin Hertz Goodman syndrome,TRUE,FALSE,Active +GARD:2160,Legacy,GARD,,,,,,,,,,,,Epilepsy benign neonatal recessive form,TRUE,FALSE,Retired +GARD:21600,Active,Orphanet,ORPHA:371007,Disorder,[Disease],Congenital muscular dystrophy with hyperlaxity,[CMDH],"Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.",,,,,,,,, +GARD:21601,Active,Orphanet,ORPHA:371024,Group of disorders,[Category],Qualitative or quantitative defects of alpha-dystroglycan,"[Alpha-dystroglycanopathy, Dystroglycanopathy]",,,,,,,,,, +GARD:21602,Active,Orphanet,ORPHA:371040,Group of disorders,[Category],Primary qualitative or quantitative defects of alpha-dystroglycan,"[Primary alpha-dystroglycanopathy, Primary dystroglycanopathy]",,,,,,,,,, +GARD:21603,Active,Orphanet,ORPHA:371047,Group of disorders,[Category],Congenital disorder of glycosylation with neurological involvement,[CDG with neurological involvement],,,,,,,,,, +GARD:21604,Active,Orphanet,ORPHA:371071,Group of disorders,[Category],Congenital disorder of glycosylation with epilepsy as a major feature,[CDG with epilepsy as a major feature],,,,,,,,,, +GARD:21605,Active,Orphanet,ORPHA:371157,Group of disorders,[Category],Congenital disorder of glycosylation with hepatic involvement,[CDG with hepatic involvement],,,,,,,,,, +GARD:21606,Active,Orphanet,ORPHA:371176,Group of disorders,[Category],Congenital disorder of glycosylation with dilated cardiomyopathy,[CDG with dilated cardiomyopathy],,,,,,,,,, +GARD:21607,Active,Orphanet,ORPHA:371183,Group of disorders,[Category],Congenital disorder of glycosylation with cardiac malformation as a major feature,[CDG with cardiac malformation as a major feature],,,,,,,,,, +GARD:21608,Active,Orphanet,ORPHA:371188,Group of disorders,[Category],Congenital disorder of glycosylation with intestinal involvement,[CDG with intestinal involvement],,,,,,,,,, +GARD:21609,Active,Orphanet,ORPHA:371195,Group of disorders,[Category],Congenital disorder of glycosylation-related bone disorder,[CDG-related bone disorder],,,,,,,,,, +GARD:21610,Active,Orphanet,ORPHA:371200,Group of disorders,[Category],Congenital disorder of glycosylation with skin involvement,[CDG with skin involvement],,,,,,,,,, +GARD:21611,Active,Orphanet,ORPHA:371207,Group of disorders,[Category],Congenital disorder of glycosylation with nephropathy as a major feature,[CDG with nephropathy as a major feature],,,,,,,,,, +GARD:21612,Active,Orphanet,ORPHA:371212,Group of disorders,[Category],Congenital disorder of glycosylation with deafness as a major feature,"[CDG with deafness as a major feature, CDG with hearing loss as a major feature, Congenital disorder of glycosylation with hearing loss as a major feature]",,,,,,,,,, +GARD:21613,Active,Orphanet,ORPHA:371433,Group of disorders,[Category],Genetic periodic paralysis,,,,,,,,,,, +GARD:21614,Active,Orphanet,ORPHA:371436,Group of disorders,[Category],Genetic neurovascular malformation,,,,,,,,,,, +GARD:21615,Active,Orphanet,ORPHA:371442,Group of disorders,[Category],Sphingolipidosis with epilepsy,,,,,,,,,,, +GARD:21616,Active,Orphanet,ORPHA:371445,Group of disorders,[Category],Genetic syndromic esophageal malformation,,,,,,,,,,, +GARD:21617,Active,Orphanet,ORPHA:371861,Group of disorders,[Category],Genetic hyperaldosteronism,,,,,,,,,,, +GARD:21618,Active,Orphanet,ORPHA:376724,Group of disorders,[Category],Generalized isolated dystonia,,,,,,,,,,, +GARD:21619,Active,Orphanet,ORPHA:391316,Disorder,[Disease],Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,,"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.",,,,,,,,, +GARD:2162,Active,Orphanet,ORPHA:1941,Disorder,[Disease],Juvenile absence epilepsy,[JAE],"Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.",[607631],,,,,Epilepsy juvenile absence,TRUE,FALSE,Active +GARD:21620,Active,Orphanet,ORPHA:391343,Disorder,[Disease],Fatal post-viral neurodegenerative disorder,,"Fatal post-viral neurodegenerative disorder is a rare neuroinflammatory disease characterized by the onset of ataxia, dysarthia and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertrigliceridemia, hypofibrinogenemia and hyperferritinemia.",,,,,,,,, +GARD:21621,Active,Orphanet,ORPHA:391366,Disorder,[Disease],Growth retardation-mild developmental delay-chronic hepatitis syndrome,,"Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.",,,,,,,,, +GARD:21622,Active,Orphanet,ORPHA:391381,Group of disorders,[Category],Disorder of asparagine metabolism,,,,,,,,,,, +GARD:21623,Active,Orphanet,ORPHA:391490,Subtype of disorder,[Clinical subtype],Adult-onset myasthenia gravis,"[Adult-onset acquired myasthenia, Adult-onset autoimmune myasthenia gravis]","A rare autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.",,,,,,,,, +GARD:21624,Active,Orphanet,ORPHA:391497,Subtype of disorder,[Clinical subtype],Juvenile myasthenia gravis,"[Childhood myasthenia gravis, Juvenile acquired myasthenia, Juvenile autoimmune myasthenia gravis]","Juvenile myasthenia gravis (MG; see this term) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.",,,,,,,,, +GARD:21625,Active,Orphanet,ORPHA:391504,Subtype of disorder,[Clinical subtype],Transient neonatal myasthenia gravis,"[NMG, Neonatal myasthenia gravis, Transient neonatal acquired myasthenia, Transient neonatal autoimmune myasthenia gravis]",Transient neonatal myasthenia gravis (MG) is a rare form of MG (see this term) occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.,,,,,,,,, +GARD:21626,Active,Orphanet,ORPHA:391651,Disorder,[Disease],Glomus tumor,,"A rare soft tissue tumor characterized by a nodular lesion composed of cells closely resembling the modified smooth muscle cells of the normal glomus body. The tumors most often arise in the skin or soft tissues of the distal extremities, in particular the subungual region, but have been reported in almost any location. They occur as typical glomus tumors, glomangiomatosis (multiple nodules of solid glomus tumor investing the vascular walls), symplastic (showing striking nuclear atypia without mitotic activity or necrosis) or malignant glomus tumors, and glomus tumors of uncertain malignant potential.",,,,,,,,, +GARD:21627,Active,Orphanet,ORPHA:391655,Disorder,[Particular clinical situation in a disease or syndrome],Off-periods in Parkinson disease not responding to oral treatment,,"A rare clinical situation occurring in the context of Parkinson disease characterized by return or worsening of symptoms (including motor and/or non-motor symptoms) under antiparkinsonian therapy. Types of off-periods are Morning Off (experienced before the first dose of the day), Delayed On (occurring more frequently after the first dose of the day or after meals), Wearing Off (end-of-dose deterioration), Sudden Off (sudden transition from on to off), and Dose Failure.",,,,,,,,, +GARD:21628,Active,Orphanet,ORPHA:391711,Group of disorders,[Clinical group],Persistent combined dystonia,,,,,,,,,,, +GARD:21629,Active,Orphanet,ORPHA:391723,Disorder,[Disease],Mucinous adenocarcinoma of the appendix,[Appendiceal mucinous adenocarcinoma],"Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.",,,,,,,,, +GARD:2163,Legacy,GARD,,,,,,,,,,,,Epilepsy mental deterioration Finnish type,TRUE,FALSE,Active +GARD:21630,Active,Orphanet,ORPHA:391799,Group of disorders,[Category],Rare genetic dystonia,[Rare genetic dystonic disorder],,,,,,,,,, +GARD:21631,Active,Orphanet,ORPHA:397587,Disorder,[Disease],Deep dermatophytosis,[Disseminated granulomatous dermatophytosis],"A rare mycosis characterized by severe, potentially life-threatening dermal and subcutaneous tissue invasion by dermatophytes. Dissemination to lymph nodes is frequent, but the infection may also occasionally spread to the central nervous system. Cutaneous signs and symptoms include erythema, desquamation, itching, nodules, plaques, or ulceration. The majority of deep dermatophytoses develop in immunocompromised patients.",,,,,,,,, +GARD:21632,Active,Orphanet,ORPHA:397606,Disorder,[Disease],PrP systemic amyloidosis,"[Chronic diarrhea with HSAN, Chronic diarrhea with hereditary sensory and autonomic neuropathy, Prion protein systemic amyloidosis]","A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.",,,,,,,,, +GARD:21633,Active,Orphanet,ORPHA:397695,Disorder,[Disease],3q27.3 microdeletion syndrome,[Del(3)(q27.3)],"3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.",,,,,,,,, +GARD:21634,Active,Orphanet,ORPHA:397750,Disorder,[Disease],Periodic paralysis with later-onset distal motor neuropathy,,"Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.",,,,,,,,, +GARD:21635,Active,Orphanet,ORPHA:397755,Disorder,[Disease],Periodic paralysis with transient compartment-like syndrome,,"Periodic paralysis with transient compartment-like syndrome is a rare, genetic, neuromuscular disease characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.",,,,,,,,, +GARD:21636,Active,Orphanet,ORPHA:397802,Group of disorders,[Clinical group],T+ B+ severe combined immunodeficiency,,,,,,,,,,, +GARD:21637,Active,Orphanet,ORPHA:397922,Disorder,[Disease],Ferro-cerebro-cutaneous syndrome,[Cerebro-cutaneous syndrome with iron overload],"Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.",,,,,,,,, +GARD:21638,Active,Orphanet,ORPHA:398053,Disorder,[Disease],Adenocarcinoma of the penis,[Penile adenocarcinoma],"An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelilal cells floating in lakes of extracellular, PAS-positive mucin, clinically characterized by a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor.",,,,,,,,, +GARD:21639,Active,Orphanet,ORPHA:398058,Disorder,[Disease],Squamous cell carcinoma of the penis,[Penile squamous cell carcinoma],"A rare urogenital tumor characterized by origin from squamous epithelial cells of the penis, most commonly the glans or inner surface of the prepuce. Macroscopically, the tumors can appear either papillary or flat and ulcerating. Histological subtypes include usual squamous cell carcinoma as the most common type, as well as basaloid, warty, verrucous, papillary, and mixed carcinomas. Patients may initially be asymptomatic but present with itching, bleeding, discharge, foul odor, and pain, as the disease progresses. Regional lymph node involvement is common, while distant metastases occur only late in the disease. Risk factors include HPV infection, smoking, poor hygiene, and HIV infection. Neonatal circumcision is implicated as strongly protective.",,,,,,,,, +GARD:21640,Active,Orphanet,ORPHA:398063,Disorder,[Disease],Refractory celiac disease,"[Refractory CD, Refractory sprue]","Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes.",,,,,,,,, +GARD:21641,Active,Orphanet,ORPHA:398073,Group of disorders,[Clinical group],Prader-Willi-like syndrome,[PWS-like],"Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.",,,,,,,,, +GARD:21642,Active,Orphanet,ORPHA:398079,Disorder,[Disease],SIM1-related Prader-Willi-like syndrome,[SIM1-related PWLS],,,,,,,,,, +GARD:21643,Active,Orphanet,ORPHA:398091,Group of disorders,[Category],Secondary neonatal autoimmune disease,[Transplacentally acquired neonatal autoimmune disease],,,,,,,,,, +GARD:21644,Active,Orphanet,ORPHA:398097,Disorder,[Disease],Neonatal antiphospholipid syndrome,"[Neonatal Hughes syndrome, Neonatal antiphospholipid antibody syndrome]","Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (e.g. cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations).",,,,,,,,, +GARD:21645,Active,Orphanet,ORPHA:398109,Disorder,[Disease],Neonatal autoimmune hemolytic anemia,"[Neonatal AHA, Neonatal AIHA]","Neonatal autoimmune hemolytic anemia is a very rare, secondary, neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated.",,,,,,,,, +GARD:21646,Active,Orphanet,ORPHA:398117,Disorder,[Disease],Neonatal dermatomyositis,[Neonatal DM],"Neonatal dermatomyositis is a very rare, secondary, neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.",,,,,,,,, +GARD:21647,Active,Orphanet,ORPHA:398124,Disorder,[Disease],Neonatal lupus erythematosus,,"A rare systemic autoimmune disease characterized by cutaneous lesions, hepatic dysfunction, hematological abnormalities, and/or cardiac arrhythmia, and caused by transplacental passage of maternal SS-A and SS-B autoantibodies. The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. The most severe presentation of the disease is irreversible congenital total atrioventricular block.",,,,,,,,, +GARD:21648,Active,Orphanet,ORPHA:398127,Disorder,[Disease],Neonatal scleroderma,,"Neonatal scleroderma is a very rare, secondary, neonatal autoimmune disease characterized by neonatal-onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated.",,,,,,,,, +GARD:21649,Active,Orphanet,ORPHA:398147,Disorder,[Disease],Persistent idiopathic facial pain,"[AFP, Atypical facial pain, PIFP]","A rare neurological disease characterized by a generally deep, poorly localized, persistent facial pain that does not present characteristics of a cranial neuralgia and which cannot be attributed to another disorder.",,,,,,,,, +GARD:21650,Active,Orphanet,ORPHA:398940,Group of disorders,[Category],Malignant non-epithelial tumor of ovary,"[Non-epithelial cancer of ovary, Ovarian malignant non-epithelial tumor, Ovarian non-epithelial cancer]",,,,,,,,,, +GARD:21651,Active,Orphanet,ORPHA:398961,Disorder,[Disease],Mucinous adenocarcinoma of ovary,[Ovarian mucinous adenocarcinoma],"Mucinous adenocarcinoma of ovary is a rare, malignant epithelial tumor of the ovary characterized, macroscopically, by a large, usually unilateral tumor with smooth surface and evenly distributed cystic and solid areas and, histologically, by a complex papillary growth pattern with microscopic cystic glands and necrotic debris. Patients often present with pelvic pain and pressure, abdominal mass or gastrointestinal problems such as early satiety or bloating.",,,,,,,,, +GARD:21652,Active,Orphanet,ORPHA:398971,Disorder,[Disease],Clear cell adenocarcinoma of the ovary,[Ovarian clear cell adenocarcinoma],"A rare, malignant, epithelilal ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported.",,,,,,,,, +GARD:21653,Active,Orphanet,ORPHA:398980,Disorder,[Disease],Primary peritoneal serous/papillary carcinoma,[PPSPC],,,,,,,,,, +GARD:21654,Active,Orphanet,ORPHA:398987,Disorder,[Disease],Malignant teratoma of ovary,"[Immature teratoma of ovary, Ovarian immature teratoma, Ovarian malignant teratoma]","A rare ovarian germ cell tumor characterized by a unilateral large adnexal mass containing variable amounts of immature embryonal-type tissues (mostly in the form of neuroectodermal tubules and rosettes, sometimes with a component of cellular mitotically active glia), admixed with ectodermal and endodermal elements with varying degrees of maturation. Patients typically present in their first three decades of life with signs and symptoms related to mass effect. The tumor is often associated with the occurrence of innumerable miliary nodules of mature glia in the peritoneum (gliomatosis peritonei) and abdominal lymph nodes.",,,,,,,,, +GARD:21655,Active,Orphanet,ORPHA:399081,Disorder,[Disease],KLHL9-related early-onset distal myopathy,,"KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.",,,,,,,,, +GARD:21656,Active,Orphanet,ORPHA:399103,Disorder,[Disease],Distal nebulin myopathy,[Nebulin-related early-onset distal myopathy],"Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.",,,,,,,,, +GARD:21657,Active,Orphanet,ORPHA:399158,Group of disorders,[Category],Osteonecrosis,[Bone necrosis],,,,,,,,,, +GARD:21658,Active,Orphanet,ORPHA:399164,Group of disorders,[Category],Avascular necrosis,[AVN],,,,,,,,,, +GARD:21659,Active,Orphanet,ORPHA:399169,Group of disorders,[Category],Secondary avascular necrosis,[Secondary AVN],,,,,,,,,, +GARD:2166,Active,Orphanet,ORPHA:1459,Disorder,[Disease],Celiac disease-epilepsy-cerebral calcification syndrome,[CEC],"Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.",[226810],,,,,Epilepsy occipital calcifications,TRUE,FALSE,Active +GARD:21660,Active,Orphanet,ORPHA:399175,Disorder,[Disease],Traumatic avascular necrosis,[Traumatic AVN],,,,,,,,,, +GARD:21661,Active,Orphanet,ORPHA:399180,Disorder,[Disease],Secondary non-traumatic avascular necrosis,"[Secondary non-traumatic AVN, Secondary non-traumatic osteonecrosis]","A rare osteonecrosis disease characterized by death of bone cellular components secondary to an interruption of the subchondral blood supply, typically manifesting with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease, amongst others, has been observed.",,,,,,,,, +GARD:21662,Active,Orphanet,ORPHA:399185,Group of disorders,[Category],Rare hereditary disease with avascular necrosis,,,,,,,,,,, +GARD:21663,Active,Orphanet,ORPHA:399293,Disorder,[Disease],Osteonecrosis of the jaw,,"A rare osteonecrosis characterized by an exposed necrotic lesion in the mandible or maxilla present for more than eight weeks, arising as a complication of antiresorptive medication, dental interventions, or trauma and infections. Patients may present with pain, altered neurosensory functions, secondary infections, and (in advanced stages) pathological fractures, or fistulae.",,,,,,,,, +GARD:21664,Active,Orphanet,ORPHA:399302,Group of disorders,[Clinical group],Primary avascular necrosis,[Primary AVN],,,,,,,,,, +GARD:21665,Active,Orphanet,ORPHA:399307,Disorder,[Disease],Idiopathic avascular necrosis,[Idiopathic AVN],"A rare osteonecrosis characterized by bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus, and scaphoid, among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling, and reduced range of motion. If left untreated, the condition may progress to bone collapse with secondary degeneration, fragmentation, and pathological fracture, as well as osteoarthritis.",,,,,,,,, +GARD:21666,Active,Orphanet,ORPHA:399329,Disorder,[Disease],Epiphysiolysis of the hip,"[Epiphysiolysis of the upper femur, Femoral head epiphysiolysis, SCFE, SUFE, Slipped capital femoral epiphysis, Slipped upper femoral epiphysis]","Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).",,,,,,,,, +GARD:21667,Active,Orphanet,ORPHA:399380,Group of disorders,[Category],Osteonecrosis of genetic origin,[Bone necrosis of genetic origin],,,,,,,,,, +GARD:21668,Active,Orphanet,ORPHA:399388,Group of disorders,[Category],Avascular necrosis of genetic origin,,,,,,,,,,, +GARD:21669,Active,Orphanet,ORPHA:399391,Group of disorders,[Category],Osteochondrosis of genetic origin,,,,,,,,,,, +GARD:2167,Active,Orphanet,ORPHA:263516,Subtype of disorder,[Clinical subtype],Progressive myoclonic epilepsy type 3,"[CLN14 disease, EPM3, PME type 3, Progressive myoclonic epilepsy due to KCTD7 deficiency, Progressive myoclonus epilepsy type 3]","A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.",[611726],,,,,Epilepsy progressive myoclonic type 3,TRUE,FALSE,Active +GARD:21670,Active,Orphanet,ORPHA:399572,Group of disorders,[Category],Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder,"[Rare male infertility due to gonadotropic axis disorder, Rare male infertility due to hypothalamic-pituitary-testicular axis disorder]",,,,,,,,,, +GARD:21671,Active,Orphanet,ORPHA:399584,Group of disorders,[Category],Rare male infertility due to adrenal disorder,,,,,,,,,,, +GARD:21672,Active,Orphanet,ORPHA:399685,Group of disorders,[Category],Rare male infertility due to testicular endocrine disorder,,,,,,,,,,, +GARD:21673,Active,Orphanet,ORPHA:399764,Group of disorders,[Category],Male infertility due to gonadal dysgenesis or sperm disorder,[Male infertility due to testicular dysgenesis or sperm disorder],,,,,,,,,, +GARD:21674,Active,Orphanet,ORPHA:399771,Group of disorders,[Category],Male infertility due to sperm disorder,,,,,,,,,,, +GARD:21675,Active,Orphanet,ORPHA:399775,Group of disorders,[Category],Male infertility with spermatogenesis disorder,,,,,,,,,,, +GARD:21676,Active,Orphanet,ORPHA:399813,Group of disorders,[Category],Male infertility due to sperm motility disorder,[Male infertility due to asthenozoospermia],,,,,,,,,, +GARD:21677,Active,Orphanet,ORPHA:399824,Group of disorders,[Category],Rare disorder with obstructive azoospermia,[Rare disorder due to impaired sperm transport],,,,,,,,,, +GARD:21678,Active,Orphanet,ORPHA:399831,Group of disorders,[Category],Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder,"[Rare female infertility due to gonadotropic axis disorder, Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder]",,,,,,,,,, +GARD:21679,Active,Orphanet,ORPHA:399839,Group of disorders,[Category],Rare female infertility due to a congenital hypogonadotropic hypogonadism,,,,,,,,,,, +GARD:2168,Active,Orphanet,ORPHA:1951,Disorder,[Disease],Epilepsy-telangiectasia syndrome,,"A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.",[226850],,,,,Epilepsy telangiectasia,TRUE,FALSE,Active +GARD:21680,Active,Orphanet,ORPHA:399846,Group of disorders,[Category],Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism,,,,,,,,,,, +GARD:21681,Active,Orphanet,ORPHA:399849,Group of disorders,[Category],Rare female infertility due to an adrenal disorder,,,,,,,,,,, +GARD:21682,Active,Orphanet,ORPHA:399853,Group of disorders,[Category],Rare female infertility due to an anomaly of ovarian function,,,,,,,,,,, +GARD:21683,Active,Orphanet,ORPHA:399877,Group of disorders,[Category],Rare female infertility due to gonadal dysgenesis,[Rare female infertility due to ovarian dysgenesis],,,,,,,,,, +GARD:21684,Active,Orphanet,ORPHA:399882,Group of disorders,[Category],Rare female infertility due to an implantation defect,,,,,,,,,,, +GARD:21685,Active,Orphanet,ORPHA:399980,Group of disorders,[Category],Rare genetic male infertility,,,,,,,,,,, +GARD:21686,Active,Orphanet,ORPHA:399983,Group of disorders,[Category],Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin,"[Rare male infertility due to gonadotropic axis disorder of genetic origin, Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin]",,,,,,,,,, +GARD:21687,Active,Orphanet,ORPHA:399994,Group of disorders,[Category],Rare male infertility due to adrenal disorder of genetic origin,,,,,,,,,,, +GARD:21688,Active,Orphanet,ORPHA:399998,Group of disorders,[Category],Male infertility due to obstructive azoospermia of genetic origin,[Male infertility due to impaired sperm transport of genetic origin],,,,,,,,,, +GARD:21689,Active,Orphanet,ORPHA:400003,Group of disorders,[Category],Rare genetic disorder with obstructive azoospermia,[Rare genetic disorder due to impaired sperm transport],,,,,,,,,, +GARD:2169,Active,Orphanet,ORPHA:1942,Disorder,[Disease],Myoclonic-astatic epilepsy,"[Doose syndrome, EMAS, Epilepsy with myoclonic-astatic seizures, Epilepsy with myoclonic-atonic seizures, MAE, Myoclonic atonic epilepsy, Myoclonic-astatic epilepsy in early childhood]","A rare, childhood onset epilepsy syndrome characterized by multiple seizure types including myoclonic-atonic (MA) seizures that occur usually in previously healthy children.","[618587, 616421, 615369]",,,,,Epilepsy with myoclonic-atonic seizures,TRUE,FALSE,Active +GARD:21690,Active,Orphanet,ORPHA:400008,Group of disorders,[Category],Rare genetic female infertility,,,,,,,,,,, +GARD:21691,Active,Orphanet,ORPHA:400011,Group of disorders,[Category],Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin,"[Rare female infertility due to gonadotropic axis disorder of genetic origin, Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin]",,,,,,,,,, +GARD:21692,Active,Orphanet,ORPHA:400018,Group of disorders,[Category],Rare female infertility due to adrenal disorder of genetic origin,,,,,,,,,,, +GARD:21693,Active,Orphanet,ORPHA:400022,Group of disorders,[Category],Rare female infertility due to an anomaly of ovarian function of genetic origin,,,,,,,,,,, +GARD:21694,Active,Orphanet,ORPHA:400025,Group of disorders,[Category],Female infertility due to an implantation defect of genetic origin,,,,,,,,,,, +GARD:21695,Active,Orphanet,ORPHA:401795,Disorder,[Disease],Autosomal recessive spastic paraplegia type 59,[SPG59],"Autosomal recessive spastic paraplegia type 59 is a very rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.",,,,,,,,, +GARD:21696,Active,Orphanet,ORPHA:401800,Disorder,[Disease],Autosomal recessive spastic paraplegia type 60,[SPG60],"Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.",,,,,,,,, +GARD:21697,Active,Orphanet,ORPHA:401815,Disorder,[Disease],Autosomal recessive spastic paraplegia type 66,[SPG66],"Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.",,,,,,,,, +GARD:21698,Active,Orphanet,ORPHA:401820,Disorder,[Disease],Autosomal recessive spastic paraplegia type 67,[SPG67],"Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.",,,,,,,,, +GARD:21699,Active,Orphanet,ORPHA:401830,Disorder,[Disease],Autosomal recessive spastic paraplegia type 69,[SPG69],"Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.",,,,,,,,, +GARD:217,Legacy,GARD,,,,,,,,,,,,Roy Maroteaux Kremp syndrome,TRUE,FALSE,Active +GARD:2170,Active,Orphanet,ORPHA:25968,Disorder,[Disease],Benign occipital epilepsy,,"Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.",[132090],,,,,"Epilepsy, benign occipital",TRUE,FALSE,Active +GARD:21700,Active,Orphanet,ORPHA:401835,Disorder,[Disease],Autosomal recessive spastic paraplegia type 70,[SPG70],"Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.",,,,,,,,, +GARD:21701,Active,Orphanet,ORPHA:401840,Disorder,[Disease],Autosomal recessive spastic paraplegia type 71,[SPG71],"Autosomal recessive spastic paraplegia type 71 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.",,,,,,,,, +GARD:21702,Active,Orphanet,ORPHA:401901,Disorder,[Disease],Huntington disease-like syndrome due to C9ORF72 expansions,"[C9ORF72-related Huntington disease phenocopy, C9ORF72-related Huntington disease-like syndrome, Huntington disease phenocopy due to C9ORF72 expansions]","Huntington disease-like syndrome due to C9ORF72 expansions is a rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.",,,,,,,,, +GARD:21703,Active,Orphanet,ORPHA:401911,Subtype of disorder,[Clinical subtype],AXIN2-related attenuated familial adenomatous polyposis,"[AXIN2-related AFAP, AXIN2-related attenuated FAP, AXIN2-related attenuated familial polyposis coli]",,,,,,,,,, +GARD:21704,Active,Orphanet,ORPHA:401920,Disorder,[Disease],Fibrolamellar hepatocellular carcinoma,"[FHCC, Fibrolamellar hepatocarcinoma]","A rare variant of hepatocellular carcinoma (HCC) presenting in adolescents or young adults with no underlying liver disease. Clinical presentation is non specific, with abdominal mass, abdominal discomfort or pain, fatigue and weight loss. Patients can also be asymptomatic. HCC markers (alpha fetoprotein) are normal. Fibrolamellar HCC presents as a unique, well-delimited mass at imagery and a biopsy confirms the diagnosis, showing well-differentiated tumor cells surrounded by thick collagen bands.",,,,,,,,, +GARD:21705,Active,Orphanet,ORPHA:401923,Disorder,[Malformation syndrome],9q31.1q31.3 microdeletion syndrome,"[Del(9)(q31.1q31.3), Monosomy 9q31.1q31.3]","9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.",,,,,,,,, +GARD:21706,Active,Orphanet,ORPHA:401935,Disorder,[Malformation syndrome],14q24.1q24.3 microdeletion syndrome,"[Del(14)(q24.1q24.3), Monosomy 14q24.1q24.3]","14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.",,,,,,,,, +GARD:21707,Active,Orphanet,ORPHA:401959,Disorder,[Malformation syndrome],Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,,"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.",,,,,,,,, +GARD:21708,Active,Orphanet,ORPHA:401993,Group of disorders,[Clinical group],Cold-induced sweating syndrome-hyperthermia spectrum,,,,,,,,,,, +GARD:21709,Active,Orphanet,ORPHA:402007,Group of disorders,[Clinical group],Lichen myxedematosus,,,,,,,,,,, +GARD:21710,Active,Orphanet,ORPHA:402014,Disorder,[Disease],Acute myeloid leukemia with t(6;9)(p23;q34),[AML with t(6;9)(p23;q34)],"A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.",,,,,,,,, +GARD:21711,Active,Orphanet,ORPHA:402017,Disorder,[Disease],Acute myeloid leukemia with t(9;11)(p22;q23),[AML with t(9;11)(p22;q23)],"A tumor of hematopoietic and lymphoid tissues characterized by the most common AML-causing MLL translocation, resulting in the MLL-MLLT3-fusion protein. It can occur either as a primary neoplasm or secondary to previous chemo-/radiation therapy. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs and include leukocytosis, anemia, thrombocytopenia, fever, bone pain, fatigue, pallor, easy bruising and frequent bleeding.",,,,,,,,, +GARD:21712,Active,Orphanet,ORPHA:402023,Disorder,[Disease],Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13),[Megakaryoblastic AML with t(1;22)(p13;q13)],"Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.",,,,,,,,, +GARD:21713,Active,Orphanet,ORPHA:402026,Disorder,[Disease],Acute myeloid leukemia with NPM1 somatic mutations,[AML with NPM1 somatic mutations],"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages.",,,,,,,,, +GARD:21714,Active,Orphanet,ORPHA:402029,Group of disorders,[Clinical group],Primary eosinophilic gastrointestinal disease,[EGID],,,,,,,,,, +GARD:21715,Active,Orphanet,ORPHA:402035,Disorder,[Disease],Eosinophilic colitis,,"A rare gastroenterologic disease characterized by extensive eosinophilic infiltration of the colon in the absence of any known cause of secondary intestinal eosinophilia. Patients present with abdominal pain, nausea, vomiting, diarrhea, gastrointestinal bleeding, malabsorption, and/or weight loss. Symptoms do not correlate with the extent of the disease, which can be segmental or pancolonic. Blood testing may show peripheral eosinophilia. The condition has a bimodal age distribution, with a first peak in neonates and a second peak in young adulthood.",,,,,,,,, +GARD:21716,Active,Orphanet,ORPHA:402823,Disorder,[Disease],Hepatitis delta,"[HDV, Hepatitis D virus]","Hepatitis delta is a rare hepatic disease characterized by variable degrees of acute hepatitis resulting from infection with the hepatitis delta virus. Occasionally it may present a benign course, but most frequently it manifests with severe liver disease that may include fulminant liver failure, hepatic decompensation and rapid progression to cirrhosis. All patients present concomitant hepatitis B virus infection and an increased risk of developing hepatocellular carcinoma has been reported.",,,,,,,,, +GARD:21717,Active,Orphanet,ORPHA:404451,Disorder,[Malformation syndrome],FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,,"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.",,,,,,,,, +GARD:21718,Active,Orphanet,ORPHA:404469,Group of disorders,[Category],Rare female infertility due to oocyte maturation defect,,,,,,,,,,, +GARD:21719,Active,Orphanet,ORPHA:404481,Group of disorders,[Clinical group],Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome,,,,,,,,,,, +GARD:2172,Legacy,GARD,,,,,,,,,,,,"Epilepsy, nocturnal, frontal lobe type",TRUE,FALSE,Retired +GARD:21720,Active,Orphanet,ORPHA:404507,Disorder,[Disease],Chondromyxoid fibroma,,"A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common presenting symptom. Prognosis is excellent even in cases with local recurrence.",,,,,,,,, +GARD:21721,Active,Orphanet,ORPHA:404511,Subtype of disorder,[Histopathological subtype],Clear cell papillary renal cell carcinoma,,"Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.",,,,,,,,, +GARD:21722,Active,Orphanet,ORPHA:404514,Disorder,[Disease],Acquired cystic disease-associated renal cell carcinoma,,"A rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.",,,,,,,,, +GARD:21723,Active,Orphanet,ORPHA:404521,Disorder,[Disease],Spinal muscular atrophy with respiratory distress type 2,"[Diaphragmatic spinal muscular atrophy type 2, SMARD2, Severe infantile axonal neuropathy with respiratory failure type 2, X-linked spinal muscular atrophy with respiratory distress]","Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.",,,,,,,,, +GARD:21724,Active,Orphanet,ORPHA:404538,Group of disorders,[Category],X-linked distal hereditary motor neuropathy,"[X-linked dHMN, X-linked distal spinal muscular atrophy]",,,,,,,,,, +GARD:21725,Active,Orphanet,ORPHA:404568,Group of disorders,[Category],Dysostosis of genetic origin,,,,,,,,,,, +GARD:21726,Active,Orphanet,ORPHA:404571,Group of disorders,[Category],Dysostosis of genetic origin with limb anomaly as a major feature,,,,,,,,,,, +GARD:21727,Active,Orphanet,ORPHA:404574,Group of disorders,[Category],Genetic syndrome with limb reduction defects,,,,,,,,,,, +GARD:21728,Active,Orphanet,ORPHA:404577,Group of disorders,[Category],Genetic syndrome with limb malformations as a major feature,,,,,,,,,,, +GARD:21729,Active,Orphanet,ORPHA:404580,Group of disorders,[Clinical group],Polyarticular juvenile idiopathic arthritis,"[Juvenile polyarthritis, Juvenile polyarticular arthritis, Polyarticular JIA]","A rare type of juvenile idiopathic arthritis characterized by arthritis with an onset prior to the age of 16 years persisting for longer than six weeks and affecting at least five joints during the first six months of the disease. Other possible causes of joint inflammation must be excluded. Two subgroups of the disease can be distinguished, based on the presence of absence of rheumatoid factor. Both subgroups are more common in girls and may be associated with mild fever, weight loss, anemia, moderate hepatosplenomegaly, and mild growth retardation.",,,,,,,,, +GARD:2173,Active,Orphanet,ORPHA:309,Group of disorders,[Clinical group],Familial partial epilepsy,,,,,,,,"Epilepsy, partial, familial",TRUE,FALSE,Active +GARD:21730,Active,Orphanet,ORPHA:404584,Group of disorders,[Category],Rare genetic bone development disorder,[Rare genetic skeletal development disorder],,,,,,,,,, +GARD:21731,Active,Orphanet,ORPHA:411501,Disorder,[Morphological anomaly],Williams-Campbell syndrome,,"A rare, respiratory malformation characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi, leading to distal airway collapse and contributing to the formation of bronchiectasis. The defect is mostly present between the fourth and sixth order bronchial divisions. Clinical manifestation includes recurrent pneumonia, coughing and wheezing.",,,,,,,,, +GARD:21732,Active,Orphanet,ORPHA:411511,Subtype of disorder,[Etiological subtype],Angelman syndrome due to a point mutation,,,,,,,,,,, +GARD:21733,Active,Orphanet,ORPHA:411515,Subtype of disorder,[Etiological subtype],Angelman syndrome due to imprinting defect in 15q11-q13,,,,,,,,,,, +GARD:21734,Active,Orphanet,ORPHA:411527,Disorder,[Particular clinical situation in a disease or syndrome],Central retinal vein occlusion,[CRVO],"A rare retinal vasculopathy characterized by impaired venous return from the retinal circulation due to an occlusion occurring within or posterior to the optic nerve head. The clinical presentation is variable and may range from asymptomatic to an abrupt and profound loss of vision. Complications causing visual loss include macular edema, macular ischemia, optic neuropathy, vitreous hemorrhage, tractional retinal detachment, and in more severe cases extensive capillary non-perfusion with a high risk of neovascular glaucoma.",,,,,,,,, +GARD:21735,Active,Orphanet,ORPHA:411696,Disorder,[Disease],Proton-pump inhibitor-responsive esophageal eosinophilia,"[PPI-REE, PPI-responsive esophageal eosinophilia, PPIRee]","Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.",,,,,,,,, +GARD:21736,Active,Orphanet,ORPHA:411777,Disorder,[Disease],Generalized eruptive keratoacanthoma,"[GEKA, Generalized eruptive keratoacanthomas of Grzybowski, Grzybowski syndrome]","Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.",,,,,,,,, +GARD:21737,Active,Orphanet,ORPHA:412035,Disorder,[Malformation syndrome],13q12.3 microdeletion syndrome,"[Del(13)(q12.3), Monosomy 13q12.3]","13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.",,,,,,,,, +GARD:21738,Active,Orphanet,ORPHA:412066,Disorder,[Disease],PRKAR1B-related neurodegenerative dementia with intermediate filaments,,"PRKAR1B-related neurodegenerative dementia with intermediate filaments is a rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.",,,,,,,,, +GARD:21739,Active,Orphanet,ORPHA:412217,Disorder,[Disease],Dystonia-aphonia syndrome,,"Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment.",,,,,,,,, +GARD:21740,Active,Orphanet,ORPHA:414726,Group of disorders,[Category],Genetic facial cleft,[Genetic craniofacial cleft],,,,,,,,,, +GARD:21741,Active,Orphanet,ORPHA:418945,Disorder,[Disease],"Carcinoma of esophagus, salivary gland type","[Esophageal carcinoma, salivary gland type]","A rare gastroesophageal tumor characterized by a typically submucosal tumor occurring usually in the middle to distal esophagus and histologically characterized as either mucoepidermoid (intimate mixture of mucus, intermediate, and epidermoid cells) or as adenoid cystic carcinoma (biphasic admixture of duct‐lining epithelial and myoepithelial cells with tubular, cribriform, solid, or basaloid growth patterns). Patients may be asymptomatic or may present with progressive dysphagia, heartburn, retrosternal pain and/or weight loss.",,,,,,,,, +GARD:21742,Active,Orphanet,ORPHA:418951,Disorder,[Disease],Undifferentiated carcinoma of esophagus,[Undifferentiated esophageal carcinoma],"A rare, aggressive, malignant, epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and, histologically, by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastroesophageal reflux, weight loss, anemia, abdominal or chest pain/pressure, dyspnea, and/or hematemesis. Presence or history of Barrett esophagus is frequently associated.",,,,,,,,, +GARD:21743,Active,Orphanet,ORPHA:418959,Disorder,[Disease],Squamous cell carcinoma of the stomach,[Gastric squamous cell carcinoma],"A rare epithelial tumour of stomach, defined histopathologically as keratinizing cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges, and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without esophageal involvement. It is characterized by preferential location in the upper third of the stomach, high probability of lymphovascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melena or hematochezia, haematemesis and weight loss.",,,,,,,,, +GARD:21744,Active,Orphanet,ORPHA:420259,Disorder,[Disease],Secondary pulmonary alveolar proteinosis,[Secondary PAP],"A rare, acquired, interstitial lung disease, characterized by alveolar surfactant accumulation, cough, progressive dyspnea and respiratory insufficiency. The disease may be secondary to hematological disorder, toxic inhalation, and infection or may occur within the setting of immunosuppression after transplantation.",,,,,,,,, +GARD:21745,Active,Orphanet,ORPHA:420402,Disorder,[Clinical syndrome],Semicircular canal dehiscence syndrome,[SCD syndrome],"A rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.",,,,,,,,, +GARD:21746,Active,Orphanet,ORPHA:420429,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to acid maltase deficiency, late-onset","[Alpha-1,4-glucosidase acid deficiency, late-onset, GSD due to acid maltase deficiency, late-onset, GSD type 2, late-onset, GSD type II, late-onset, Glycogen storage disease type 2, late-onset, Glycogen storage disease type II, late-onset, Glycogenosis type 2, late-onset, Glycogenosis type II, late-onset, Pompe disease, late-onset]","A form of glycogen storage disease due to acid maltase deficiency, a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, that is characterized by an accumulation of glycogen in lysosomes.",,,,,,,,, +GARD:21747,Active,Orphanet,ORPHA:420699,Disorder,[Disease],Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,,"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.",,,,,,,,, +GARD:21748,Active,Orphanet,ORPHA:420755,Group of disorders,[Category],Rare genetic odontal or periodontal disorder,,,,,,,,,,, +GARD:21749,Active,Orphanet,ORPHA:420789,Disorder,[Disease],Autoimmune encephalopathy with parasomnia and obstructive sleep apnea,"[Anti-IgLON5 disease, Anti-IgLON5 syndrome]","A rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.",,,,,,,,, +GARD:2175,Legacy,GARD,,,,,,,,,,,,Epimetaphyseal dysplasia cataract,TRUE,FALSE,Active +GARD:21750,Active,Orphanet,ORPHA:420794,Disorder,[Malformation syndrome],Cono-spondylar dysplasia,[Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome],"Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.",,,,,,,,, +GARD:21751,Active,Orphanet,ORPHA:423306,Disorder,[Malformation syndrome],Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,,"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.",,,,,,,,, +GARD:21752,Active,Orphanet,ORPHA:423479,Disorder,[Disease],X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome,,"X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.",,,,,,,,, +GARD:21753,Active,Orphanet,ORPHA:423655,Group of disorders,[Clinical group],ARX-related encephalopathy-brain malformation spectrum,,,,,,,,,,, +GARD:21754,Active,Orphanet,ORPHA:423662,Group of disorders,[Category],Rare autonomic nervous system disorder,,,,,,,,,,, +GARD:21755,Active,Orphanet,ORPHA:423693,Subtype of disorder,[Clinical subtype],Double outlet right ventricle with subaortic or doubly committed ventricular septal defect,[DORV with subaortic or doubly committed VSD],,,,,,,,,, +GARD:21756,Active,Orphanet,ORPHA:423712,Subtype of disorder,[Clinical subtype],"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy","[DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy]",,,,,,,,,, +GARD:21757,Active,Orphanet,ORPHA:423771,Group of disorders,[Category],Rare carcinoma of stomach,[Rare gastric carcinoma],,,,,,,,,, +GARD:21758,Active,Orphanet,ORPHA:423776,Group of disorders,[Category],Hereditary gastric cancer,[Hereditary cancer of stomach],"Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach (see these terms) and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome (see these terms).",,,,,,,,, +GARD:21759,Active,Orphanet,ORPHA:423786,Disorder,[Disease],Undifferentiated carcinoma of stomach,[Undifferentiated gastric carcinoma],"Undifferentiated carcinoma of stomach is a rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread.",,,,,,,,, +GARD:2176,Legacy,GARD,,,,,,,,,,,,Epimetaphyseal skeletal dysplasia,TRUE,FALSE,Retired +GARD:21760,Active,Orphanet,ORPHA:423793,Group of disorders,[Category],Rare tumor of small intestine,[Rare tumor of small bowel],,,,,,,,,, +GARD:21761,Active,Orphanet,ORPHA:423798,Group of disorders,[Category],Mesenchymal tumor of small intestine,[Mesenchymal tumor of small bowel],,,,,,,,,, +GARD:21762,Active,Orphanet,ORPHA:423894,Disorder,[Disease],Microcephaly-complex motor and sensory axonal neuropathy syndrome,,"Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.",,,,,,,,, +GARD:21763,Active,Orphanet,ORPHA:423957,Group of disorders,[Category],Rare carcinoma of small intestine,[Rare carcinoma of small bowel],,,,,,,,,, +GARD:21764,Active,Orphanet,ORPHA:423968,Disorder,[Disease],Squamous cell carcinoma of the small intestine,[Squamous cell carcinoma of the small bowel],"Squamous cell carcinoma of the small intestine is an extremely rare, malignant, epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases.",,,,,,,,, +GARD:21765,Active,Orphanet,ORPHA:423975,Group of disorders,[Category],Neuroendocrine tumor of the small intestine,"[NET of the small intestine, Neuroendocrine neoplasm of the small intestine, Neuroendocrine tumor of small bowel]",,,,,,,,,, +GARD:21766,Active,Orphanet,ORPHA:423982,Group of disorders,[Category],Epithelial tumor of the appendix,[Appendiceal epithelial tumor],,,,,,,,,, +GARD:21767,Active,Orphanet,ORPHA:423991,Group of disorders,[Category],Rare epithelial tumor of colon,,,,,,,,,,, +GARD:21768,Active,Orphanet,ORPHA:423994,Disorder,[Disease],Squamous cell carcinoma of the colon,,"A rare epithelial tumour of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal squamous cell carcinoma. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, hematochesia or melena. Cases of severe, symptomatic hypercalcemia have been reported.",,,,,,,,, +GARD:21769,Active,Orphanet,ORPHA:423998,Group of disorders,[Category],Rare epithelial tumor of rectum,[Rare rectal epithelial tumor],,,,,,,,,, +GARD:2177,Legacy,GARD,,,,,,,,,,,,Epiphyseal dysplasia dysmorphism camptodactyly,TRUE,FALSE,Active +GARD:21770,Active,Orphanet,ORPHA:424002,Disorder,[Disease],Squamous cell carcinoma of the rectum,[Rectal squamous cell carcinoma],"A rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of SCC of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits.",,,,,,,,, +GARD:21771,Active,Orphanet,ORPHA:424010,Group of disorders,[Category],Epithelial tumor of anal canal,,,,,,,,,,, +GARD:21772,Active,Orphanet,ORPHA:424013,Group of disorders,[Clinical group],Carcinoma of the anal canal,,,,,,,,,,, +GARD:21773,Active,Orphanet,ORPHA:424016,Disorder,[Disease],Adenocarcinoma of the anal canal,,"A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread.",,,,,,,,, +GARD:21774,Active,Orphanet,ORPHA:424019,Disorder,[Disease],Squamous cell carcinoma of the anal canal,,"Squamous cell carcinoma of the anal canal is a rare epithelial intestinal neoplasm, arising from squamous epithelial cells in the anal canal, with variable macroscopic appearance, ranging from small, benign lesions (that mimick fissures, hemorrhoids or anorectal fistulae) to a large, exophytic or ulcerating tumor localized within the anal canal. Patients may be asymptomatic or present difficulty to defecate, anal bleeding, pain and/or discharge, and often have a history of chronic anal fistulae and abscesses, Crohn's disease, hemorrhoids, or, especially in younger patients, immunosuppression (such as HIV infection). Association with HPV infection is commonly reported.",,,,,,,,, +GARD:21775,Active,Orphanet,ORPHA:424033,Group of disorders,[Category],Rare epithelial tumor of pancreas,[Rare pancreatic epithelial tumor],,,,,,,,,, +GARD:21776,Active,Orphanet,ORPHA:424039,Disorder,[Disease],Squamous cell carcinoma of pancreas,[Pancreatic squamous cell carcinoma],"A rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lymphovascular and perineural invasion, as well as high metastatic potential. Patients present with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice.",,,,,,,,, +GARD:21777,Active,Orphanet,ORPHA:424046,Disorder,[Disease],Acinar cell carcinoma of pancreas,[Pancreatic acinar cell carcinoma],"A very rare, malignant, epithelial tumor of the pancreas characterized, macroscopically, by a usually large, well-circumscribed, fully or partially encapsulated, solid mass, often with hemorrhage, necrosis and cystic changes, in any portion of the pancreas and, histologically, by neoplastic cells with variable degrees of differentiation and morphology, ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or, less commonly, jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported.",,,,,,,,, +GARD:21778,Active,Orphanet,ORPHA:424053,Disorder,[Disease],Mucinous cystadenocarcinoma of the pancreas,[Pancreatic mucinous cystadenocarcinoma],"A rare, epithelial tumor of the pancreas characterized, histologically, by columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (<3 cm) are usually asymptomatic, while large tumors typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, hemobilia and diabetes mellitus.",,,,,,,,, +GARD:21779,Active,Orphanet,ORPHA:424058,Disorder,[Disease],Intraductal papillary mucinous carcinoma of pancreas,"[IPMN, Pancreatic intraductal papillary mucinous carcinoma]","Intraductal papillary mucinous carcinoma of pancreas is a rare epithelial tumor of pancreas characterized by malignant, mucin-producing cystic mass, originating from the pancreatic ductal system, associated with local invasion and metastatic spread, composed of mucin-producing, columnar epithelial cells covering the dilated pancreatic ducts with a papillary structure. The presenting symptoms are non-specific and include abdominal pain, pancreatitis, steatorrhea, jaundice and diabetes. Many patients are asymptomatic at the time of diagnosis.",,,,,,,,, +GARD:2178,Active,Orphanet,ORPHA:1825,Disorder,[Malformation syndrome],Epiphyseal dysplasia-hearing loss-dysmorphism syndrome,"[Epiphyseal dysplasia-deafness-dysmorphism syndrome, Finucane-Kurtz-Scott syndrome]","Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.",,,,,,Epiphyseal dysplasia hearing loss dysmorphism,TRUE,FALSE,Active +GARD:21780,Active,Orphanet,ORPHA:424065,Disorder,[Disease],Solid pseudopapillary carcinoma of pancreas,"[Pancreatic solid pseudopapillary carcinoma, Solid pseudopapillary neoplasm of the pancreas]","A rare carcinoma of the pancreas characterized by a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting, and weight loss. One-third of the patients are asymptomatic. The tumor has low malignant potential, but can invade locally.",,,,,,,,, +GARD:21781,Active,Orphanet,ORPHA:424073,Disorder,[Disease],Serous cystadenocarcinoma of pancreas,[Pancreatic serous cystadenocarcinoma],"A very rare, malignant, epithelial tumor of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usually non-specific and include abdominal and/or flank pain, palpable abdominal mass, upper gastrointestinal bleeding, jaundice or abnormal serum liver enzymes, vomiting, anorexia and/or weight loss.",,,,,,,,, +GARD:21782,Active,Orphanet,ORPHA:424080,Disorder,[Disease],Osteoclastic giant cell tumor of pancreas,"[OGCT of pancreas, Pancreatic osteoclastic giant cell tumor, Pancreatic undifferentiated carcinoma with osteoclast-like giant cells, Undifferentiated carcinoma of pancreas with osteoclast-like giant cells]",,,,,,,,,, +GARD:21783,Active,Orphanet,ORPHA:424107,Disorder,[Disease],Congenital myopathy with myasthenic-like onset,,"Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.",,,,,,,,, +GARD:21784,Active,Orphanet,ORPHA:424925,Group of disorders,[Category],Qualitative or quantitative defects of Torsin-1A-interacting protein 1,,,,,,,,,,, +GARD:21785,Active,Orphanet,ORPHA:424933,Group of disorders,[Category],Rare malignant epithelial tumor of liver and intrahepatic biliary tract,[Rare malignant epithelial tumor of liver and IBT],,,,,,,,,, +GARD:21786,Active,Orphanet,ORPHA:424936,Group of disorders,[Category],Carcinoma of liver and intrahepatic biliary tract,[Carcinoma of liver and IBT],,,,,,,,,, +GARD:21787,Active,Orphanet,ORPHA:424943,Disorder,[Disease],Adenocarcinoma of the liver and intrahepatic biliary tract,[Adenocarcinoma of the liver and IBT],"A very rare hepatic and biliary tract tumor characterized by a growth pattern ressembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes.",,,,,,,,, +GARD:21788,Active,Orphanet,ORPHA:424970,Disorder,[Disease],Undifferentiated carcinoma of liver and intrahepatic biliary tract,[Undifferentiated carcinoma of liver and IBT],"Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated.",,,,,,,,, +GARD:21789,Active,Orphanet,ORPHA:424975,Disorder,[Disease],Squamous cell carcinoma of liver and intrahepatic biliary tract,[Squamous cell carcinoma of liver and IBT],"Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.",,,,,,,,, +GARD:21790,Active,Orphanet,ORPHA:424982,Disorder,[Disease],Biliary cystadenocarcinoma,[Intrahepatic bile duct cystadenocarcinoma],,,,,,,,,, +GARD:21791,Active,Orphanet,ORPHA:424991,Disorder,[Disease],Adenocarcinoma of the gallbladder and extrahepatic biliary tract,[Adenocarcinoma of the gallbladder and EBT],"A rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.",,,,,,,,, +GARD:21792,Active,Orphanet,ORPHA:424996,Disorder,[Disease],Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,[Squamous cell carcinoma of gallblader and EBT],"A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.",,,,,,,,, +GARD:21793,Active,Orphanet,ORPHA:425003,Group of disorders,[Category],Inherited digestive cancer-predisposing syndrome,,,,,,,,,,, +GARD:21794,Active,Orphanet,ORPHA:425368,Group of disorders,[Category],Rare epithelial tumor of small intestine,[Rare epithelial tumor of small bowel],,,,,,,,,, +GARD:21795,Active,Orphanet,ORPHA:431156,Group of disorders,[Category],Primary immunodeficiency with predisposition to severe viral infection,,,,,,,,,,, +GARD:21796,Active,Orphanet,ORPHA:431263,Group of disorders,[Clinical group],Late-onset scapuloperoneal muscular dystrophy with hyaline bodies,"[Late-onset SPMD with hyaline bodies, Late-onset scapuloperoneal syndrome, myopathic type]",,,,,,,,,, +GARD:21797,Active,Orphanet,ORPHA:431320,Group of disorders,[Clinical group],Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder,[SPOAN and SPOAN-related disorder],"A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.",,,,,,,,, +GARD:21798,Active,Orphanet,ORPHA:431341,Disorder,[Morphological anomaly],Patent urachus,,"Patent urachus is a type of congenital urachal anomaly (see this term) characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.",,,,,,,,, +GARD:21799,Active,Orphanet,ORPHA:431344,Disorder,[Morphological anomaly],Urachal sinus,,"Urachal sinus is a type of congenital urachal anomaly (see this term) resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.",,,,,,,,, +GARD:218,Active,Orphanet,ORPHA:3111,Disorder,[Disease],Rotor syndrome,"[Hyperbilirubinemia, Rotor type]","A benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.",[237450],,,,,Rotor syndrome,TRUE,FALSE,Active +GARD:2180,Active,Orphanet,ORPHA:93308,Disorder,[Disease],Multiple epiphyseal dysplasia type 1,"[EDM1, MED1, Polyepiphyseal dysplasia type 1]","Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.",[132400],,,,,Multiple epiphyseal dysplasia 1,TRUE,FALSE,Active +GARD:21800,Active,Orphanet,ORPHA:431347,Disorder,[Morphological anomaly],Urachal diverticulum,[Vesicourachal diverticulum],Urachal diverticulum is the rarest type of congenital urachal anomaly (see this term) resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.,,,,,,,,, +GARD:21801,Active,Orphanet,ORPHA:431353,Group of disorders,[Category],Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,,A disorder that constitutes a rare subgroup of rare pulmonary hypertension characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.,,,,,,,,, +GARD:21802,Active,Orphanet,ORPHA:434786,Group of disorders,[Category],Rare genetic autonomic nervous system disorder,,,,,,,,,,, +GARD:21803,Active,Orphanet,ORPHA:434809,Group of disorders,[Category],Syndrome with woolly hair,,,,,,,,,,, +GARD:21804,Active,Orphanet,ORPHA:435365,Group of disorders,[Clinical group],Fetal lower urinary tract obstruction,[LUTO],,,,,,,,,, +GARD:21805,Active,Orphanet,ORPHA:435372,Disorder,[Morphological anomaly],Anterior urethral valve,,"A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly occurring in males and characterized by a posteriorly directed semilunar fold arising from the floor of the anterior urethra and causing urethral obstruction during micturition. The valves may be located anywhere distal to the membranous urethra. Clinical presentation is highly variable, depending on age and degree of urinary obstruction, and includes urinary incontinence, urinary retention, weak urinary stream, post-micturitional dribbling, bulging on the ventral penis, urinary tract infection, and urosepsis.",,,,,,,,, +GARD:21806,Active,Orphanet,ORPHA:435554,Group of disorders,[Category],Genetic precocious puberty,,,,,,,,,,, +GARD:21807,Active,Orphanet,ORPHA:435561,Group of disorders,[Category],Precocious puberty in female,,,,,,,,,,, +GARD:21808,Active,Orphanet,ORPHA:435564,Group of disorders,[Category],Genetic precocious puberty in female,,,,,,,,,,, +GARD:21809,Active,Orphanet,ORPHA:435603,Group of disorders,[Category],Genetic otorhinolaryngological malformation,,,,,,,,,,, +GARD:21810,Active,Orphanet,ORPHA:435606,Group of disorders,[Category],Genetic nose and cavum anomaly,,,,,,,,,,, +GARD:21811,Active,Orphanet,ORPHA:435609,Group of disorders,[Category],Genetic larynx anomaly,,,,,,,,,,, +GARD:21812,Active,Orphanet,ORPHA:435612,Group of disorders,[Category],Genetic tracheal anomaly,,,,,,,,,,, +GARD:21813,Active,Orphanet,ORPHA:435638,Disorder,[Malformation syndrome],3p25.3 microdeletion syndrome,"[Del(3)p(25.3), Intellectual disability-epilepsy-stereotypic hand movement syndrome, Monosomy 3p25.3]","3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.",,,,,,,,, +GARD:21814,Active,Orphanet,ORPHA:435743,Group of disorders,[Category],Congenital urachal anomaly,,"Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum (see these terms).",,,,,,,,, +GARD:21815,Active,Orphanet,ORPHA:435819,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,[CMT2 due to TFG mutation],"A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.",,,,,,,,, +GARD:21816,Active,Orphanet,ORPHA:436003,Disorder,[Malformation syndrome],Contractures-developmental delay-Pierre Robin syndrome,[5q23 microdeletion syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.",,,,,,,,, +GARD:21817,Active,Orphanet,ORPHA:436141,Disorder,[Malformation syndrome],Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.",,,,,,,,, +GARD:21818,Active,Orphanet,ORPHA:436144,Disorder,[Disease],Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,,"A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.",,,,,,,,, +GARD:21819,Active,Orphanet,ORPHA:436271,Disorder,[Disease],Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy,,"A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.",,,,,,,,, +GARD:21820,Active,Orphanet,ORPHA:436274,Disorder,[Disease],Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,[PXE-like syndrome with retinitis pigmentosa],"A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.",,,,,,,,, +GARD:21821,Active,Orphanet,ORPHA:438072,Group of disorders,[Category],Disorder of keton body transport,,,,,,,,,,, +GARD:21822,Active,Orphanet,ORPHA:438279,Disorder,[Disease],Human infection by orthopoxvirus,,"A rare viral disease characterized by fever, malaise, lymphadenopathy, and a maculopapular exanthema spreading from the site of infection to other regions of the body. The skin lesions eventually dry out and may leave behind scars. The most relevant orthopox species for human disease after the eradication of the variola virus, which was responsible for smallpox, are the monkeypox virus and the cowpox virus. Infections with these viruses typically take a benign course.",,,,,,,,, +GARD:21823,Active,Orphanet,ORPHA:439167,Disorder,[Clinical syndrome],Placental insufficiency,[Uteroplacental vascular insufficiency],"A rare obstetric disease characterized by inadequate blood flow to the placenta during pregnancy, resulting in a decrease in trans-placental transfer of oxygen and nutrients to the fetus, potentially leading to fetal growth retardation, distress, or death. Maternal risk factors include preeclampsia, gestational diabetes, and smoking, among others.",,,,,,,,, +GARD:21824,Active,Orphanet,ORPHA:439175,Disorder,[Clinical syndrome],Pediatric arterial ischemic stroke,"[Childhood AIS, Childhood arterial ischemic stroke, Pediatric AIS]","A rare neurologic condition characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in pediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. Children under one year of age are more likely to present with seizures and altered level of consciousness, while older children more often show focal neurological deficits.",,,,,,,,, +GARD:21825,Active,Orphanet,ORPHA:439196,Disorder,[Particular clinical situation in a disease or syndrome],Zinc-responsive necrolytic acral erythema,"[NAE, Necrolytic acral erythema]",,,,,,,,,, +GARD:21826,Active,Orphanet,ORPHA:439202,Disorder,[Disease],Non-recovering obstetric brachial plexus lesion,"[Chronic obstetric brachial plexus injury, Chronic obstetric brachial plexus palsy, Non-recovering OBPI, Non-recovering OBPL]","A rare acquired peripheral neuropathy characterized by paresis of the supraspinatus, infraspinatus, deltoid, and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits, and secondary deformities.",,,,,,,,, +GARD:21827,Active,Orphanet,ORPHA:439224,Disorder,[Disease],ALECT2 amyloidosis,[Leukocyte chemotactic factor-2 amyloidosis],"A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.",,,,,,,,, +GARD:21828,Active,Orphanet,ORPHA:439232,Disorder,[Disease],AApoAIV amyloidosis,[Apolipoprotein A-IV amyloidosis],"A rare, systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals renal tubular atrophy, interstitial fibrosis, glomerular sclerosis, and medullar amyloid deposits.",,,,,,,,, +GARD:21829,Active,Orphanet,ORPHA:439246,Group of disorders,[Clinical group],ABeta2M amyloidosis,[Beta2-microglobulinic amyloidosis],,,,,,,,,, +GARD:2183,Legacy,GARD,,,,,,,,,,,,Acute posterior multifocal placoid pigment epitheliopathy,TRUE,FALSE,Active +GARD:21830,Active,Orphanet,ORPHA:439737,Subtype of disorder,[Clinical subtype],Primary polyarteritis nodosa,"[Primary PAN, Primary periarteritis nodosa]",,,,,,,,,, +GARD:21831,Active,Orphanet,ORPHA:439746,Subtype of disorder,[Clinical subtype],Secondary polyarteritis nodosa,"[Secondary PAN, Secondary periarteritis nodosa]","Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN (see this term) characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).",,,,,,,,, +GARD:21832,Active,Orphanet,ORPHA:439755,Subtype of disorder,[Clinical subtype],Single-organ polyarteritis nodosa,"[Single-organ PAN, Single-organ periarteritis nodosa]","Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN; see this term), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN (see this term) and relapses appear to be more common.",,,,,,,,, +GARD:21833,Active,Orphanet,ORPHA:439762,Subtype of disorder,[Clinical subtype],Systemic polyarteritis nodosa,"[Systemic PAN, Systemic periarteritis nodosa]",Systemic polyarteritis nodosa (PAN; see this term) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.,,,,,,,,, +GARD:21834,Active,Orphanet,ORPHA:439849,Group of disorders,[Category],Autosomal recessive severe congenital neutropenia,,,,,,,,,,, +GARD:21835,Active,Orphanet,ORPHA:439881,Disorder,[Particular clinical situation in a disease or syndrome],Plastic bronchitis,"[Croupous bronchitis, Fibrinous bronchitis, Pseudo-membranous bronchitis]",,,,,,,,,, +GARD:21836,Active,Orphanet,ORPHA:440221,Disorder,[Disease],Congenital oculomotor nerve palsy,"[Congenital CNIII lesion, Congenital third cranial nerve palsy]","A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.",,,,,,,,, +GARD:21837,Active,Orphanet,ORPHA:440233,Disorder,[Disease],Congenital abducens nerve palsy,"[Benign congenital sixth cranial nerve palsy, Congenital CNVI palsy]","A rare neuro-ophthalmological disease characterized by dysfunction of the ipsilateral lateral rectus muscle with esotropia in primary position, limited or no abduction of the eyeball, and compensatory horizontal face turn toward the palsied eye. The condition commonly resolves spontaneously.",,,,,,,,, +GARD:21838,Active,Orphanet,ORPHA:440354,Disorder,[Malformation syndrome],Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,[Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome],"A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate.",,,,,,,,, +GARD:21839,Active,Orphanet,ORPHA:440368,Disorder,[Disease],Necrotizing soft tissue infection,[NSTI],"A rare infectious disease characterized by painful, rapidly progressive infection of deep soft tissue structures. Infections can be mono- or polymicrobial and involve gram-positive cocci, enteric gram-negative bacilli, anaerobes, among others. Fungal infections have also been described in rare cases. Physical examination findings are often subtle and may include erythema, bullae, induration of subcutaneous tissues, and tenderness to palpation.",,,,,,,,, +GARD:21840,Active,Orphanet,ORPHA:440437,Disorder,[Disease],Familial colorectal cancer Type X,[FCCTX],"A rare, hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterized by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumor cells, a more heterogeneous tumor architecture and an infiltrative growth pattern, when compared to Lynch syndrome cases.",,,,,,,,, +GARD:21841,Active,Orphanet,ORPHA:440701,Group of disorders,[Category],Disorders of pentose/polyol metabolism,,,,,,,,,,, +GARD:21842,Active,Orphanet,ORPHA:440724,Disorder,[Disease],Extensive peripapillary myelinated nerve fibers,,"A rare ophthalmic disorder characterized by visual abnormalities (such as myopia, strabismus, or amblyopia) due to the presence of myelinated retinal nerve fibers, which appear as whitish patches with feathery edges at the level of the retinal nerve fiber layer and may be continuous or discontinuous with the optic nerve head. The defect can be unilateral or bilateral.",,,,,,,,, +GARD:21843,Active,Orphanet,ORPHA:440727,Disorder,[Disease],Combined hamartoma of the retina and retinal pigment epithelium,"[CHR-RPE, Combined hamartoma of the retina and RPE]","A rare benign eye tumor characterized by the presence of glial cells, vascular tissue, and sheets of pigment epithelial cells lacking the distribution and organization of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, nevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision.",,,,,,,,, +GARD:21844,Active,Orphanet,ORPHA:440987,Disorder,[Morphological anomaly],Isolated agenesis of gallbladder,,"A rare biliary tract disease characterized by congenital absence of the gallbladder and cystic duct. The majority of patients are asymptomatic. Possible clinical manifestations include abdominal pain and tenderness in the right upper quadrant, nausea, vomiting, fatty food intolerance, and jaundice. Frequency of choledocholithiasis is increased significantly.",,,,,,,,, +GARD:21845,Active,Orphanet,ORPHA:441434,Group of disorders,[Category],Syndromic hereditary optic neuropathy,,,,,,,,,,, +GARD:21846,Active,Orphanet,ORPHA:441447,Subtype of disorder,[Clinical subtype],Early-onset posterior subcapsular cataract,,,,,,,,,,, +GARD:21847,Active,Orphanet,ORPHA:442582,Disorder,[Disease],AH amyloidosis,[Heavy chain amyloidosis],"A rare, systemic amyloidosis characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. Amyloid fibrils deposit in various organs, most commonly in the kidneys. It typically affects older patients and clinical presentation includes signs and symptoms of renal dysfunction, sometimes leading to nephrotic syndrome and end stage renal disease. Cardiac, liver and nerves involvement has also been described.",,,,,,,,, +GARD:21848,Active,Orphanet,ORPHA:443090,Group of disorders,[Category],"46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect",,,,,,,,,,, +GARD:21849,Active,Orphanet,ORPHA:443095,Group of disorders,[Category],Hyperinsulinemic hypoglycaemia,,,,,,,,,,, +GARD:21850,Active,Orphanet,ORPHA:443101,Disorder,[Disease],Hypothalamic adipsic hypernatraemia syndrome,,"A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception, due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal.",,,,,,,,, +GARD:21851,Active,Orphanet,ORPHA:443159,Disorder,[Disease],Lymphoplasmacytic lymphoma without IgM production,[Lymphoplasmacytic lymphoma without Immunoglobulin M production],"A rare B-cell non-Hodgkin lymphoma characterized by the presence of small B-lymphocytes, plasmacytoid lymphocytes, and plasma cells, and either non-secreting or secreting IgG or IgA paraproteins. The disease usually involves the bone marrow, sometimes also the spleen or lymph nodes. Patients typically present with symptoms related to anemia. Hyperviscosity, autoimmune phenomena, and B symptoms may also be observed. Mortality is higher as compared to Waldenström macroglobulinemia.",,,,,,,,, +GARD:21852,Active,Orphanet,ORPHA:443167,Disorder,[Disease],NUT midline carcinoma,[NMC],"A rare tumor characterized by a rapidly growing mass usually arising along the midline, defined by the presence of NUTM1 rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect, depending on the location. Extensive local invasion of adjacent structures, lymph node involvement, and distant metastatic disease are often present at the time of diagnosis. Prognosis is generally poor.",,,,,,,,, +GARD:21853,Active,Orphanet,ORPHA:443173,Disorder,[Disease],Postpartum psychosis,[Puerperal psychosis],"A rare gynecologic or obstetric disease characterized by an abrupt onset of psychiatric symptoms during the first weeks after childbirth. Clinical features include mood changes, depression, anxiety, delusions, and hallucinations, among others. The disease is associated with a risk of suicide or infanticide, as well as an increased risk for recurrence after the next pregnancy and future non-pregnancy related psychotic episodes.",,,,,,,,, +GARD:21854,Active,Orphanet,ORPHA:443180,Disorder,[Disease],Spontaneous intracranial hypotension,[Spontaneous cerebrospinal fluid leak],"A rare headache resulting from a cerebrospinal fluid (CSF) leak with subsequent lowered CSF pressure, characterized clinically by severe headaches which typically worsen upon standing up and get better when lying down. Additional features may include neck stiffness, nausea, vomiting, vertigo, tinnitus, visual disturbances, and cognitive abnormalities, among others, as sagging and displacement of the brain can lead to a variety of lesions and symptoms.",,,,,,,,, +GARD:21855,Active,Orphanet,ORPHA:443227,Disorder,[Disease],Paratyphoid fever,,"A rare form of salmonellosis caused by Salmonella enterica serovar Paratyphi A, B and C, characterized by typical symptoms of enteric fever including high fever, headache, abdominal pain and intestinal symptoms, dry cough, chills, and rashes, followed by a long period of recovery. The infection can be complicated by intestinal hemorrhage and perforation, as well as cardiac involvement, and may even be fatal. Transmission of the pathogen is via the fecal-oral route, with humans as the sole reservoir of infection.",,,,,,,,, +GARD:21856,Active,Orphanet,ORPHA:443287,Group of disorders,[Category],ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor,,,,,,,,,,, +GARD:21857,Active,Orphanet,ORPHA:443291,Disorder,[Particular clinical situation in a disease or syndrome],HIV-associated cancer,[HIV-related cancer],,,,,,,,,, +GARD:21858,Active,Orphanet,ORPHA:444002,Disorder,[Malformation syndrome],11q22.2q22.3 microdeletion syndrome,"[Del(11)(q22.2q22.3), Monosomy 11q22.2q22.3]","11q22.2q22.3 microdeletion syndrome is a rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.",,,,,,,,, +GARD:21859,Active,Orphanet,ORPHA:444051,Disorder,[Malformation syndrome],20q11.2 microdeletion syndrome,"[Del(20)(q11.2), Monosomy 20q11]","A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.",,,,,,,,, +GARD:21860,Active,Orphanet,ORPHA:444316,Disorder,[Disease],Idiopathic phalangeal acro-osteolysis,[Idiopathic phalangeal acroosteolysis],"A rare bone disease characterized by bone resorption affecting the distal phalanx, most commonly the terminal tuft, in the absence of a known cause. Patients present with shortening of the affected fingers or toes, associated with nail abnormalities (dystrophic or hypertrophic nails) and skin changes (such as ulceration or pigment anomalies).",,,,,,,,, +GARD:21861,Active,Orphanet,ORPHA:444916,Group of disorders,[Clinical group],Pseudohypoaldosteronism,,,,,,,,,,, +GARD:21862,Active,Orphanet,ORPHA:444941,Group of disorders,[Clinical group],Caudal regression-sirenomelia spectrum,,"A group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.",,,,,,,,, +GARD:21863,Active,Orphanet,ORPHA:445197,Group of disorders,[Category],Secondary vasculitis,,,,,,,,,,, +GARD:21864,Active,Orphanet,ORPHA:447731,Disorder,[Disease],NIK deficiency,[Primary immunodeficiency with multifaceted aberrant lymphoid immunity],"A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation.",,,,,,,,, +GARD:21865,Active,Orphanet,ORPHA:447740,Disorder,[Disease],Susceptibility to localized juvenile periodontitis,,"A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss.",,,,,,,,, +GARD:21866,Active,Orphanet,ORPHA:447757,Disorder,[Disease],Autosomal dominant spastic paraplegia type 9B,[AD-SPG9B],"A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal.",,,,,,,,, +GARD:21867,Active,Orphanet,ORPHA:447764,Subtype of disorder,[Clinical subtype],IgG4-related sclerosing cholangitis,,"A rare systemic autoimmune disease characterized by cholestasis and diffuse cholangiographic abnormalities with circular and symmetrical bile duct wall thickening, and elevated serum IgG4 levels. Characteristic histopathological findings include dense infiltration of IgG4-positive plasma cells and extensive fibrosis in the bile duct wall. A marked response to steroid therapy is typical. Patients present with jaundice, cholangitis, pruritis, and sometimes associated findings of autoimmune pancreatitis, sialadenitis, and retroperitoneal fibrosis.",,,,,,,,, +GARD:21868,Active,Orphanet,ORPHA:447771,Group of disorders,[Clinical group],Sclerosing cholangitis,,,,,,,,,,, +GARD:21869,Active,Orphanet,ORPHA:447774,Disorder,[Disease],Secondary sclerosing cholangitis,,"A rare, biliary tract disease characterized by development of sclerosing cholangitis due to a known primary insult to the biliary tree, including infections, autoimmune disease, exposure to toxic agents, obstructive and ischemic injuries. Patients may be initially asymptomatic with only elevated alkaline phosphatase and gamma glutamyltransferase levels. Later presentation includes abdominal pain, jaundice, pruritus, fever and bacterial cholangitis from ascending infection.",,,,,,,,, +GARD:21870,Active,Orphanet,ORPHA:447777,Disorder,[Disease],Keratocystic odontogenic tumor,"[KTOC, Odontogenic keratocystoma]","A rare odontogenic tumor characterized by an unilocular or multilocular cyst most commonly located in the posterior body and lower ramus of the mandible, often surrounding the crown of the third molar. Histopathologically, the lesion shows a lining of parakeratinized stratified squamous epithelium with palisading hyperchromatic basal cells. Patients may be asymptomatic or present with local infection and/or signs and symptoms of mass effect. Recurrence is rare after complete surgical removal. Some patients have multiple cysts (metachronous or synchronous), especially in the context of nevoid basal cell carcinoma syndrome (Gorlin syndrome).",,,,,,,,, +GARD:21871,Active,Orphanet,ORPHA:447788,Disorder,[Clinical syndrome],Cerebral visual impairment,[Cortical visual impairment],"A rare neurologic disease characterized by significant visual dysfunction that cannot be explained by ocular abnormalities alone and is due to damage to post-chiasmatic visual pathways and structures during early perinatal development. Signs and symptoms include decreased visual acuity, visual field defects, and impairments in visual processing and attention.",,,,,,,,, +GARD:21872,Active,Orphanet,ORPHA:447795,Disorder,[Biological anomaly],Lipoyl transferase 2 deficiency,,,,,,,,,,, +GARD:21873,Active,Orphanet,ORPHA:447874,Group of disorders,[Category],Biological anomaly without phenotypic characterization,,,,,,,,,,, +GARD:21874,Active,Orphanet,ORPHA:447881,Disorder,[Clinical syndrome],Idiopathic dropped head syndrome,[Isolated neck extensor myopathy],"A rare acquired skeletal muscle disease characterized by severe weakness of the neck extensor muscles causing progressive reducible kyphosis of the cervical spine and the inability to hold the head up, in the absence of a known cause. Histological studies reveal a non-inflammatory myopathic picture. The clinical course is relatively benign, although cervical myelopathy may develop.",,,,,,,,, +GARD:21875,Active,Orphanet,ORPHA:447980,Disorder,[Malformation syndrome],19p13.3 microduplication syndrome,[Dup(19)(p13.13)],"A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.",,,,,,,,, +GARD:21876,Active,Orphanet,ORPHA:447985,Group of disorders,[Category],Partial duplication of the short arm of chromosome 19,"[Partial duplication of chromosome 19p, Partial trisomy of chromosome 19p, Partial trisomy of the short arm of chromosome 19]",,,,,,,,,, +GARD:21877,Active,Orphanet,ORPHA:448270,Disorder,[Morphological anomaly],Ectopia cordis,,"A rare, life-threatening, congenital non-syndromic heart malformation characterized by complete or partial location of the heart outside the thoracic cavity. The main ectopic positions are thoracic but anterior to the sternum, abdominal, thoracoabdominal, and cervical. Associated abnormalities include sternal, diaphragmatic, pericardial, and abdominal wall defects, as well as intracardiac malformations.",,,,,,,,, +GARD:21878,Active,Orphanet,ORPHA:448426,Group of disorders,[Category],Genetic primary orthostatic hypotension,,,,,,,,,,, +GARD:21879,Active,Orphanet,ORPHA:449266,Disorder,[Particular clinical situation in a disease or syndrome],Pleural empyema,,"A rare pulmonary condition characterized by accumulation of pus in the pleural cavity, most commonly as a consequence of pneumonia, but also trauma and surgical procedures. Clinical signs and symptoms depend on host factors, as well as the nature of the causative microorganism, among others, and include cough, chest pain, dyspnea, and fever.",,,,,,,,, +GARD:2188,Active,Orphanet,ORPHA:222,Disorder,[Disease],Erosive pustular dermatosis of the scalp,,"Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.",,,,,,Erosive pustular dermatosis of the scalp,TRUE,FALSE,Active +GARD:21880,Active,Orphanet,ORPHA:449280,Disorder,[Disease],Scedosporiosis,,"A rare mycosis caused by Scedosporium species, characterized by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, chronic lung disease, but also in immunocompetent hosts and near drowning.",,,,,,,,, +GARD:21881,Active,Orphanet,ORPHA:449285,Disorder,[Disease],Snakebite envenomation,,,,,,,,,,, +GARD:21882,Active,Orphanet,ORPHA:449395,Subtype of disorder,[Clinical subtype],IgG4-related kidney disease,,"A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis.",,,,,,,,, +GARD:21883,Active,Orphanet,ORPHA:449400,Subtype of disorder,[Clinical subtype],IgG4-related aortitis,,"A rare systemic autoimmune disease characterized by infiltrates of IgG4-positive plasma cells and lymphocytes in the adventitia of the aorta, resulting in thickening of perivascular tissue or formation of soft tissue masses surrounding the aorta and its major branches (potentially complicated by inflammatory aortic aneurysm), associated with elevated serum IgG4 levels. Preferential location is the infra-renal portion of the abdominal aorta. In addition, medium-sized blood vessels can be involved, and the condition may occur together with IgG4-related disease in other parts of the body. Clinical symptoms are unspecific and include chest or back pain and fever.",,,,,,,,, +GARD:21884,Active,Orphanet,ORPHA:449432,Subtype of disorder,[Clinical subtype],IgG4-related submandibular gland disease,[Küttner tumor],,,,,,,,,, +GARD:21885,Active,Orphanet,ORPHA:449563,Subtype of disorder,[Clinical subtype],IgG4-related ophthalmic disease,,"A rare, inflammatory eye disease characterized by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common.",,,,,,,,, +GARD:21886,Active,Orphanet,ORPHA:449566,Disorder,[Disease],Eosinophilic angiocentric fibrosis,[IgG4-related eosinophilic angiocentric fibrosis],"A rare otorhinolaryngologic disease characterized by an indolent submucosal mass of variable size and extent, most commonly arising in the anterior nasal cavity, involving the nasal septum and lateral nasal wall, and potentially extending into the adjacent sinuses. Occurrence in the larynx and lower respiratory tract or the orbit is rare. Histological examination shows concentric angiocentric stromal fibrosis (onionskin fibrosis) and prominent eosinophils. Increased numbers of IgG4-positive plasma cells in the lesion may also be observed, in addition to elevated serum IgG4. Patients typically present with long-standing obstructive symptoms.",,,,,,,,, +GARD:21887,Active,Orphanet,ORPHA:450322,Disorder,[Clinical syndrome],Polyclonal hyperviscosity syndrome,,"A rare hematologic disease characterized by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström's macroglobulinemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal hemorrhage, headache, stroke, pulmonary hypertension, and congestive heart failure.",,,,,,,,, +GARD:21888,Active,Orphanet,ORPHA:451602,Disorder,[Disease],Primary cutaneous plasmacytosis,,"A rare acquired skin disease characterized by benign proliferation of mature plasma cells with a typical triad of cutaneous lesions, polyclonal hypergammaglobulinemia, and superficial lymphadenopathy, without an apparent underlying cause. The skin lesions consist of multiple round-to-oval, red-to-dark-brown macules, papules, and plaques most commonly found on the trunk, but also the face, neck, and axillae.",,,,,,,,, +GARD:21889,Active,Orphanet,ORPHA:451607,Disorder,[Disease],Cutaneous pseudolymphoma,,"A rare acquired skin disease characterized by a benign, etiologically variable lymphoproliferative process of the skin mimicking cutaneous lymphoma clinically and/or histologically, while not fulfilling criteria for the diagnosis of a specific disease. Depending on the predominant cell type in the infiltrate, T- and B-cell pseudolymphomas can be distinguished.",,,,,,,,, +GARD:21890,Active,Orphanet,ORPHA:453510,Disorder,[Disease],Congenital insensitivity to pain with severe intellectual disability,"[Congenital absence of pain with severe intellectual disability, Congenital analgesia with severe intellectual disability, Congenital insensitivity to pain with preserved temperature sensation, Congenital insensitivity to pain with severe non-progressive cognitive delay]","Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.",,,,,,,,, +GARD:21891,Active,Orphanet,ORPHA:454706,Disorder,[Disease],Progressive muscular atrophy,[PMA],"A rare motor neuron disease characterized by isolated lower motor neuron features, including progressive flaccid weakness, muscle atrophy, fasciculations, and reduced or absent tendon reflexes. Onset is in late adulthood, with men being affected more often than women. Upper motor neuron signs may develop later in some cases. Occurrence of respiratory insufficiency determines the prognosis. Neuropathological analysis shows intraneuronal Bunina bodies and ubiquitin-positive inclusions.",,,,,,,,, +GARD:21892,Active,Orphanet,ORPHA:454710,Disorder,[Disease],Anti-p200 pemphigoid,,"A rare, acquired, subepidermal autoimmune bullous disease characterized by polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with imunoglubulin G deposition in the basement membrane zone. Lesions are frequently localized on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes.",,,,,,,,, +GARD:21893,Active,Orphanet,ORPHA:454723,Disorder,[Disease],Endometrioid carcinoma of ovary,,"A rare malignant epithelial tumor of ovary characterized by confluent or cribriform proliferations of round, oval, or tubular glands, typically lined by stratified non-mucin-containing epithelium with well-defined luminal margins. Squamous differentiation, secretory changes, oxyphilic variants, sex cord-stromal type patterns, or sertoliform endometrioid carcinomas may occur. Patients most commonly present in the sixth decade of life, either with a pelvic mass with or without pain, or without any symptoms. The tumor may be bilateral and is frequently associated with endometriosis and/or endometrial carcinoma.",,,,,,,,, +GARD:21894,Active,Orphanet,ORPHA:454742,Disorder,[Disease],Variably protease-sensitive prionopathy,,"A rare human prion disease characterized by accumulation of abnormal prion protein markedly less protease-resistant than in other prion diseases, depending on the genotype at codon 129 of the prion protein gene. No mutations are found in the coding sequence of the gene. Neuropathological analysis shows spongiform change and prion protein deposition with microplaques in the cerebellum. Patients present with slowly progressive cognitive and motor decline, psychiatric symptoms, ataxia, myoclonus, or tremor, among others. The disease is fatal and transmissible to other individuals.",,,,,,,,, +GARD:21895,Active,Orphanet,ORPHA:454750,Disorder,[Morphological anomaly],Isolated tracheoesophageal fistula,[H-type tracheoesophageal fistula],"A rare, congenital, esophageal malformation characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood.",,,,,,,,, +GARD:21896,Active,Orphanet,ORPHA:454831,Disorder,[Particular clinical situation in a disease or syndrome],Acute radiation syndrome,[Acute radiation sickness],,,,,,,,,, +GARD:21897,Active,Orphanet,ORPHA:454836,Disorder,[Disease],Avian influenza,,"A rare, infectious disease characterized by variable severity and outcome, ranging from mild upper respiratory tract infection with fever and cough, to influenza-like illness with rapid progression to severe pneumonia, sepsis with shock, acute respiratory distress syndrome and even death. Additional manifestations may include conjunctivitis, nausea, abdominal pain, diarrhea, vomiting, multiple organ dysfunction, and encephalopathy.",,,,,,,,, +GARD:21898,Active,Orphanet,ORPHA:456298,Disorder,[Malformation syndrome],1p35.2 microdeletion syndrome,"[Del(1)(p35.2), Deletion 1p35.2, Monosomy 1p35.2]","A very rare, chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.",,,,,,,,, +GARD:21899,Active,Orphanet,ORPHA:456333,Disorder,[Disease],Hereditary neuroendocrine tumor of small intestine,[Hereditary neuroendocrine tumor of small bowel],"A rare inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported.",,,,,,,,, +GARD:219,Legacy,GARD,,,,,,,,,,,,Congenital giant megaureter,TRUE,FALSE,Active +GARD:21900,Active,Orphanet,ORPHA:457062,Group of disorders,[Clinical group],Pseudohypoparathyroidism without Albright hereditary osteodystrophy,,,,,,,,,,, +GARD:21901,Active,Orphanet,ORPHA:457074,Group of disorders,[Clinical group],Congenital nemaline myopathy,,,,,,,,,,, +GARD:21902,Active,Orphanet,ORPHA:457077,Disorder,[Disease],TAFRO syndrome,[Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome],"A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare.",,,,,,,,, +GARD:21903,Active,Orphanet,ORPHA:457083,Disorder,[Morphological anomaly],Isolated splenogonadal fusion,[SGF],"A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ectopic spleen tissue without connection to the principal spleen. Males typically present with a scrotal mass or as an incidental finding during the management of cryptorchidism, testicular tumors or inguinal hernia. In females this is usually an incidental finding during laparotomy.",,,,,,,,, +GARD:21904,Active,Orphanet,ORPHA:457205,Disorder,[Disease],Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,"[ANOAC, Axonal neuropathy-optic atrophy-cognitive deficit syndrome]","A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.",,,,,,,,, +GARD:21905,Active,Orphanet,ORPHA:457246,Disorder,[Disease],Clear cell sarcoma of kidney,[CCSK],"Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.",,,,,,,,, +GARD:21906,Active,Orphanet,ORPHA:457365,Disorder,[Malformation syndrome],Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness, and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose, and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia, and intention tremor. Brain imaging may show white matter abnormalities.",,,,,,,,, +GARD:21907,Active,Orphanet,ORPHA:458758,Disorder,[Disease],Composite hemangioendothelioma,,"A rare vascular tumor characterized by a poorly circumscribed, infiltrative nodular lesion with vascular differentiation, centered in the dermis and subcutis. The tumor is composed of histologically benign, intermediate, and malignant components. Typical is an admixture of different components which include epithelioid and retiform hemangioendothelioma, spindle cell hemangioma, angiosarcoma-like areas, and benign vascular lesions. Predilection sites are the distal extremities. Many patients have a history of lymphedema. Local recurrence is frequent, while metastasis is rare.",,,,,,,,, +GARD:21908,Active,Orphanet,ORPHA:458763,Disorder,[Disease],Retiform hemangioendothelioma,,"A rare vascular tumor characterized by a slowly growing lesion with predominant involvement of the skin and subcutaneous tissue of the distal extremities. Distinctive arborizing blood vessels lined by endothelial cells with characteristic hobnail morphology are a typical feature. Local recurrences are frequent unless wide local excision is performed, while metastasis is rare.",,,,,,,,, +GARD:21909,Active,Orphanet,ORPHA:458768,Disorder,[Disease],Primary intralymphatic angioendothelioma,[Dabska tumor],"A rare vascular tumor characterized by an ill-defined, slowly growing, asymptomatic cutaneous plaque or nodule mostly involving the limbs, in fewer cases the trunk. The tumor is composed of lymphatic-like channels with prominent intraluminal papillary tufts with hyaline cores lined by hobnail endothelial cells. It is locally aggressive, while metastasis is rare. Infants and children are much more often affected than adults.",,,,,,,,, +GARD:2191,Active,Orphanet+OMIM,OMIM:609536,Subtype of disorder,[Disease subtype],Complement component 5 deficiency,[C5 deficiency],,[609536],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,Complement component 5 deficiency,TRUE,FALSE,Active +GARD:21910,Active,Orphanet,ORPHA:458775,Group of disorders,[Clinical group],Congenital hemangioma,,,,,,,,,,, +GARD:21911,Active,Orphanet,ORPHA:458785,Disorder,[Disease],Partially involuting congenital hemangioma,,"A rare congenital hemangioma characterized by a superficial, red to violaceous lesion with overlying telangiectasia and a surrounding pale halo, which initially behaves like a rapidly involuting congenital hemangioma, beginning to involute shortly after birth. Involution is then aborted, and a residual tumor virtually indistinguishable from non-involuting congenital hemangioma remains. This lesion grows proportionally with the child and does not regress.",,,,,,,,, +GARD:21912,Active,Orphanet,ORPHA:458792,Disorder,[Malformation syndrome],Mixed cystic lymphatic malformation,[Mixed cystic lymphangioma],"A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.",,,,,,,,, +GARD:21913,Active,Orphanet,ORPHA:458827,Group of disorders,[Category],Vascular tumor with associated anomalies,,,,,,,,,,, +GARD:21914,Active,Orphanet,ORPHA:458830,Group of disorders,[Category],Rare capillary malformation with associated anomalies,,,,,,,,,,, +GARD:21915,Active,Orphanet,ORPHA:458833,Group of disorders,[Clinical group],Common cystic lymphatic malformation,,"A group of rare lymphatic malformation disorders characterized by solitary or multifocal, benign, congenital malformation of the lymphatic vessels in the soft tissues, resulting in painless cystic lesions, which are predominantly found in the head and neck (but may affect any site), and which have varying clinical presentation depending on specific size and location of lesion. Categorization into macrocystic lympathic malformations, microcystic lymphatic malformations or mixed cystic lymphatic malformations is reported based on the size of the cyst(s) contained within the lesion. Functional deficits and compromise of vital functions (including breathing, feeding) may be observed.",,,,,,,,, +GARD:21916,Active,Orphanet,ORPHA:458837,Group of disorders,[Clinical group],Rare combined vascular malformation,,,,,,,,,,, +GARD:21917,Active,Orphanet,ORPHA:458844,Group of disorders,[Category],Rare vascular malformation of major vessels,,,,,,,,,,, +GARD:21918,Active,Orphanet,ORPHA:459074,Disorder,[Malformation syndrome],Corpus callosum agenesis-macrocephaly-hypertelorism syndrome,"[7q36.3 microduplication syndrome, Dup(7)(q36.3)]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association.",,,,,,,,, +GARD:21919,Active,Orphanet,ORPHA:459345,Group of disorders,[Category],Immunodeficiency due to a complement cascade component deficiency,,,,,,,,,,, +GARD:2192,Active,Orphanet,ORPHA:1954,Disorder,[Disease],Congenital lethal erythroderma,,"A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.",[227090],,,,,Erythroderma lethal congenital,TRUE,FALSE,Retired +GARD:21920,Active,Orphanet,ORPHA:459348,Group of disorders,[Category],Immunodeficiency due to a complement regulatory deficiency,,,,,,,,,,, +GARD:21921,Active,Orphanet,ORPHA:459526,Group of disorders,[Category],Rare genetic capillary malformation,,,,,,,,,,, +GARD:21922,Active,Orphanet,ORPHA:459537,Group of disorders,[Category],Genetic complex vascular malformation with associated anomalies,[Genetic hemangiolymphangioma],,,,,,,,,, +GARD:21923,Active,Orphanet,ORPHA:459543,Group of disorders,[Category],Rare genetic vascular tumor,,,,,,,,,,, +GARD:21924,Active,Orphanet,ORPHA:459548,Group of disorders,[Category],Rare genetic venous malformation,,,,,,,,,,, +GARD:21925,Active,Orphanet,ORPHA:459787,Group of disorders,[Category],Lethal multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:21926,Active,Orphanet,ORPHA:464311,Subtype of disorder,[Etiological subtype],Intellectual disability syndrome due to a DYRK1A point mutation,[DYRK1A-related intellectual disability syndrome due to a point mutation],,,,,,,,,, +GARD:21927,Active,Orphanet,ORPHA:464318,Disorder,[Disease],Verrucous hemangioma,,"A rare vascular anomaly characterized by congenital, solitary or grouped, red-to-purple plaques which may bleed and enlarge over time. The lesions show a predilection for the lower extremities. Histological examination reveals numerous dilated, congested capillaries and venules in the papillary dermis, often with a deep dermal component, and with increased density of variably congested capillaries and venules also in the subcutaneous tissue. The overlying epidermis displays prominent acanthosis, papillomatosis, hyperkeratosis, parakeratosis, and crusting.",,,,,,,,, +GARD:21928,Active,Orphanet,ORPHA:464359,Disorder,[Disease],Benign metanephric tumor,,,,,,,,,,, +GARD:21929,Active,Orphanet,ORPHA:464370,Disorder,[Disease],Neonatal alloimmune neutropenia,,"A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.",,,,,,,,, +GARD:21930,Active,Orphanet,ORPHA:464453,Disorder,[Disease],Acquired methemoglobinemia,[Drug-induced methemoglobinemia],"A rare hematologic disease characterized by increased levels of methemoglobin in the blood due to exposure to oxidizing agents like nitrates or nitrites, a variety of medications (most commonly local anesthetics), or aniline dyes, among others. Clinical manifestations include cyanosis, dizziness, headache, dyspnea, confusion, and coma. The severity of symptoms ranges from mild to life-threatening, depending on the percentage of methemoglobin.",,,,,,,,, +GARD:21931,Active,Orphanet,ORPHA:464458,Disorder,[Particular clinical situation in a disease or syndrome],Paracetamol poisoning,[Acetaminophen poisoning],,,,,,,,,, +GARD:21932,Active,Orphanet,ORPHA:464756,Disorder,[Disease],Familial gastric type 1 neuroendocrine tumor,,"A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. Synchronous gastric adenocarcinoma has also been reported. Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis).",,,,,,,,, +GARD:21933,Active,Orphanet,ORPHA:464764,Group of disorders,[Clinical group],Immune-mediated acquired neuromuscular junction disease,,,,,,,,,,, +GARD:21934,Active,Orphanet,ORPHA:466066,Group of disorders,[Category],Genetic hemoglobinopathy,,,,,,,,,,, +GARD:21935,Active,Orphanet,ORPHA:466084,Group of disorders,[Category],Genetic otorhinolaryngologic disease,,,,,,,,,,, +GARD:21936,Active,Orphanet,ORPHA:466650,Disorder,[Disease],Exercise-induced malignant hyperthermia,[Exertional heat stroke],"A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.",,,,,,,,, +GARD:21937,Active,Orphanet,ORPHA:466658,Group of disorders,[Category],Rare disease with malignant hyperthermia,,,,,,,,,,, +GARD:21938,Active,Orphanet,ORPHA:466670,Disorder,[Particular clinical situation in a disease or syndrome],Cyanide poisoning,,,,,,,,,,, +GARD:21939,Active,Orphanet,ORPHA:466677,Disorder,[Disease],Scorpion envenomation,,"Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.",,,,,,,,, +GARD:21940,Active,Orphanet,ORPHA:466682,Disorder,[Disease],Euthyroid Graves orbitopathy,[Euthyroid Graves ophthalmopathy],"A rare ophthalmic disorder characterized by clinical signs of Graves orbitopathy (i. e. unilateral or bilateral lid retraction, exophthalmos, soft tissue involvement, restrictive myopathy, and/or optic neuropathy) with normal thyroid function and without any signs of hyperthyroidism. Laboratory examination typically reveals low serum levels of thyroid-stimulating hormone receptor autoantibodies.",,,,,,,,, +GARD:21941,Active,Orphanet,ORPHA:466695,Disorder,[Morphological anomaly],Supratip dysplasia,,"Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.",,,,,,,,, +GARD:21942,Active,Orphanet,ORPHA:466921,Disorder,[Disease],Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,,"A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.",,,,,,,,, +GARD:21943,Active,Orphanet,ORPHA:466962,Disorder,[Disease],SMARCA4-deficient sarcoma of thorax,[SMARCA4-deficient thoracic sarcoma],"A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnea, cough, chest pain, or dysphagia, among others. The tumors are aggressive with limited response to chemotherapies, rapid local progression, high recurrence rate after surgical resection, and short median survival times. There is a strong association with smoking.",,,,,,,,, +GARD:21944,Active,Orphanet,ORPHA:467166,Disorder,[Disease],Tubulinopathy-associated dysgyria,[Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome],"A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems.",,,,,,,,, +GARD:21945,Active,Orphanet,ORPHA:468635,Disorder,[Disease],Cryptogenic multifocal ulcerous stenosing enteritis,[CMUSE],"A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed.",,,,,,,,, +GARD:21946,Active,Orphanet,ORPHA:468641,Disorder,[Disease],Chronic enteropathy associated with SLCO2A1 gene,[CEAS],"A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.",,,,,,,,, +GARD:21947,Active,Orphanet,ORPHA:471383,Group of disorders,[Category],Genetic lethal multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:21948,Active,Orphanet,ORPHA:474347,Group of disorders,[Clinical group],Rare congenital anomaly of ventricular septum,"[Congenital anomaly of interventricular communication, Congenital ventricular septal anomaly]",,,,,,,,,, +GARD:21949,Active,Orphanet,ORPHA:476093,Disorder,[Disease],Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,,"A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.",,,,,,,,, +GARD:2195,Active,Orphanet,ORPHA:2405,Disorder,[Malformation syndrome],Thickened earlobes-conductive deafness syndrome,"[Escher-Hirt syndrome, Thickened earlobes-conductive hearing loss syndrome]","Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.",[128980],,,,,Escher Hirt syndrome,TRUE,FALSE,Retired +GARD:21950,Active,Orphanet,ORPHA:476096,Disorder,[Disease],Erythrokeratodermia-cardiomyopathy syndrome,[EKC syndrome],"Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.",,,,,,,,, +GARD:21951,Active,Orphanet,ORPHA:476109,Group of disorders,[Clinical group],Axonal hereditary motor and sensory neuropathy,[Axonal HMSN],,,,,,,,,, +GARD:21952,Active,Orphanet,ORPHA:476116,Group of disorders,[Clinical group],Demyelinating hereditary motor and sensory neuropathy,[Demyelinating HMSN],,,,,,,,,, +GARD:21953,Active,Orphanet,ORPHA:476119,Disorder,[Malformation syndrome],Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,,"A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet.",,,,,,,,, +GARD:21954,Active,Orphanet,ORPHA:476123,Group of disorders,[Clinical group],Intermediate Charcot-Marie-Tooth disease,"[Intermediate CMT, Intermediate hereditary motor and sensory neuropathy]",,,,,,,,,, +GARD:21955,Active,Orphanet,ORPHA:476403,Group of disorders,[Clinical group],Hypercontractile muscle stiffness syndrome,,,,,,,,,,, +GARD:21956,Active,Orphanet,ORPHA:476406,Disorder,[Disease],Congenital generalized hypercontractile muscle stiffness syndrome,,"A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.",,,,,,,,, +GARD:21957,Active,Orphanet,ORPHA:477647,Group of disorders,[Category],Type 1 interferonopathy,,,,,,,,,,, +GARD:21958,Active,Orphanet,ORPHA:477650,Disorder,[Disease],Fibroblastic rheumatism,,"A rare rheumatologic disease characterized by sudden onset of symmetric inflammatory distal polyarthritis and multiple firm cutaneous nodules with predilection for the upper and lower extremities. Patients often develop sclerodactyly and joint contractures. Skin biopsy shows fibroblastic proliferation in a matrix of thickened collagen fibers, with loss of elastic fibers and no mucin deposition.",,,,,,,,, +GARD:21959,Active,Orphanet,ORPHA:477742,Disorder,[Disease],Nodular fasciitis,"[Pseudosarcomatous fasciitis, Pseudosarcomatous fibromatosis]","A rare soft tissue tumor characterized by a solitary mass-forming fibrous proliferation that usually occurs in the subcutaneous tissue, composed of uniform fibroblastic/myofibroblastic cells displaying a loose growth pattern. Upper extremities, trunk, and head and neck are most frequently affected. The lesion typically grows rapidly and almost always measures less than five centimeters in diameter. Macroscopically, it may appear circumscribed or infiltrative but is not encapsulated. Recurrence after excision is very rare, and metastasis does not occur.",,,,,,,,, +GARD:2196,Legacy,GARD,,,,,,,,,,,,Esophageal atresia coloboma talipes,TRUE,FALSE,Active +GARD:21960,Active,Orphanet,ORPHA:477754,Group of disorders,[Category],Genetic cerebral small vessel disease,,,,,,,,,,, +GARD:21961,Active,Orphanet,ORPHA:477759,Group of disorders,[Category],COL4A1 or COL4A2-related cerebral small vessel disease,[COL4A1 or COL4A2-related cerebral angiopathy],,,,,,,,,, +GARD:21962,Active,Orphanet,ORPHA:477762,Group of disorders,[Clinical group],COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy,[COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy],,,,,,,,,, +GARD:21963,Active,Orphanet,ORPHA:477765,Group of disorders,[Clinical group],COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy,[COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy],,,,,,,,,, +GARD:21964,Active,Orphanet,ORPHA:477768,Group of disorders,[Clinical group],Moyamoya angiopathy,,,,,,,,,,, +GARD:21965,Active,Orphanet,ORPHA:477771,Group of disorders,[Category],Rare disorder with a moyamoya angiopathy,,,,,,,,,,, +GARD:21966,Active,Orphanet,ORPHA:477781,Disorder,[Disease],Primary condylar hyperplasia,[Type 1 condylar hyperplasia],"A rare temporomandibular joint anomaly characterized by progressive, asymmetrical, non-neoplastic overgrowth of a mandibular condyle. It is unilateral in most cases and leads to progressive facial asymmetry, mandibular deviation, articular dysfunction, and dental malocclusion.",,,,,,,,, +GARD:21967,Active,Orphanet,ORPHA:477794,Group of disorders,[Category],Syndromic constitutional thrombocytopenia,,,,,,,,,,, +GARD:21968,Active,Orphanet,ORPHA:477797,Group of disorders,[Category],Isolated constitutional thrombocytopenia,"[Constitutional thrombocytopenia without extra-hematopoietic manifestations, Non-syndromic constitutional thrombocytopenia]",,,,,,,,,, +GARD:21969,Active,Orphanet,ORPHA:477805,Group of disorders,[Category],Genetic cardiac malformation,,,,,,,,,,, +GARD:2197,Active,Orphanet,ORPHA:1957,Disorder,[Disease],Esthesioneuroblastoma,[Olfactory neuroblastoma],"Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.",,,,,,Olfactory neuroblastoma,TRUE,FALSE,Active +GARD:21970,Active,Orphanet,ORPHA:477808,Group of disorders,[Category],Other genetic dermis disorder,,,,,,,,,,, +GARD:21971,Active,Orphanet,ORPHA:477811,Group of disorders,[Category],Rare hypercholesterolemia,,,,,,,,,,, +GARD:21972,Active,Orphanet,ORPHA:480491,Subtype of disorder,[Clinical subtype],MYO5B-related progressive familial intrahepatic cholestasis,[MYO5B deficiency],,,,,,,,,, +GARD:21973,Active,Orphanet,ORPHA:480501,Disorder,[Morphological anomaly],Choledochal cyst,[Congenital cystic dilatation of the biliary tract],"A rare biliary tract disease characterized by congenital fusiform or cystic dilatation of intra- and/or extrahepatic bile ducts. Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, hepatomegaly, rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased.",,,,,,,,, +GARD:21974,Active,Orphanet,ORPHA:480506,Disorder,[Disease],Primary intrahepatic lithiasis,"[PIHL, Primary hepatolithiasis]","A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. The condition is rare in the Western world but frequent in eastern Asia. Patients usually present before the age of forty with right upper quadrant pain, jaundice, and/or fever. Stones are typically calcium bilirubinate (pigment) stones, and bacteria are present in the bile in almost all cases. Complications are biliary strictures, liver abscess, liver fibrosis, and secondary biliary cirrhosis. Association with cholangiocarcinoma has also been reported.",,,,,,,,, +GARD:21975,Active,Orphanet,ORPHA:480512,Disorder,[Disease],Idiopathic ductopenia,"[IAD, Idiopathic adult ductopenia]","A rare biliary tract disease characterized by loss of interlobular bile ducts resulting in chronic cholestasis, without any known cause. Loss of less than 50% of interlobular bile ducts is associated with a mild disease course, while loss of the majority of ducts results in a severe form, potentially leading to cirrhosis and liver failure. Patients typically present as young or middle-aged adults with episodic jaundice, pruritus, and elevated liver enzymes.",,,,,,,,, +GARD:21976,Active,Orphanet,ORPHA:480520,Disorder,[Malformation syndrome],Caroli syndrome,,"A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.",,,,,,,,, +GARD:21977,Active,Orphanet,ORPHA:480524,Disorder,[Disease],Idiopathic peliosis hepatis,[Idiopathic peliosis hepatitis],"A rare vascular liver disease characterized by widespread or focal cystic dilatation of sinusoidal blood-filled spaces of the liver without any known cause. Lesions can vary in diameter between few millimeters and several centimeters. The condition may remain asymptomatic or manifest with complications including rupture and intraperitoneal hemorrhage, hepatomegaly, portal hypertension, cholestasis, and liver failure.",,,,,,,,, +GARD:21978,Active,Orphanet,ORPHA:480528,Disorder,[Malformation syndrome],Lethal hydranencephaly-diaphragmatic hernia syndrome,,"Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.",,,,,,,,, +GARD:21979,Active,Orphanet,ORPHA:480531,Disorder,[Morphological anomaly],Congenital portosystemic shunt,[Congenital portosystemic venous fistula],"Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.",,,,,,,,, +GARD:2198,Active,Orphanet,ORPHA:51188,Disorder,[Disease],Ethylmalonic encephalopathy,,"Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.",[602473],,,,,Ethylmalonic encephalopathy,TRUE,FALSE,Active +GARD:21980,Active,Orphanet,ORPHA:480541,Disorder,[Disease],High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement,,"A rare aggressive B-cell non-Hodgkin lymphoma characterized by a rearrangement in MYC and BCL2 and/or BCL6 (so-called double-hit or triple-hit lymphoma). The category includes double-hit cases with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma, blastoid cases with a double-hit, and cases with a DLBCL, not otherwise specified, morphology with a double-hit. It refers only to de novo cases, not to lymphomas with a history of pre-existing or coexistent indolent lymphoma. Patients typically present with widespread disease, including involvement of lymph nodes, bone marrow, and central nervous system.",,,,,,,,, +GARD:21981,Active,Orphanet,ORPHA:480549,Group of disorders,[Category],Non-severe combined immunodeficiency,[Non-SCID],,,,,,,,,, +GARD:21982,Active,Orphanet,ORPHA:480553,Disorder,[Disease],Aneurysmal bone cyst,,"A rare bone tumor characterized by a benign, cystic lesion consisting of blood-filled cavities divided by fibrous septa containing fibroblasts, multinucleated osteoclast-type giant cells, and reactive woven bone. The tumor may arise de novo or secondarily, complicating other benign or malignant bone tumors. It most commonly arises during the first two decades of life and often affects the epiphyses of long bones and posterior elements of vertebral bodies. Patients typically present with pain and swelling, or neurological symptoms due to compression of nerve roots or the spinal cord by vertebral tumors.",,,,,,,,, +GARD:21983,Active,Orphanet,ORPHA:480556,Disorder,[Disease],Isolated neonatal sclerosing cholangitis,,"Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.",,,,,,,,, +GARD:21984,Active,Orphanet,ORPHA:480701,Disorder,[Disease],Facial diplegia with paresthesias,"[Facial diplegia with paresthesias variant of GBS, Facial diplegia with paresthesias variant of Guillain-Barré syndrome]","A rare localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. CSF analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy, although axonal polyneuropathy has been also described.",,,,,,,,, +GARD:21985,Active,Orphanet,ORPHA:481508,Group of disorders,[Category],Gastroenteric neuroendocrine neoplasm,,,,,,,,,,, +GARD:21986,Active,Orphanet,ORPHA:481671,Group of disorders,[Category],Type 1 interferonopathy of childhood,,,,,,,,,,, +GARD:21987,Active,Orphanet,ORPHA:481771,Group of disorders,[Category],Genetic alopecia,,,,,,,,,,, +GARD:21988,Active,Orphanet,ORPHA:482072,Group of disorders,[Clinical group],HTRA1-related cerebral small vessel disease,[HTRA1-related cerebral angiopathy],,,,,,,,,, +GARD:21989,Active,Orphanet,ORPHA:482092,Group of disorders,[Category],Rare idiopathic macular telangiectasia,,,,,,,,,,, +GARD:2199,Legacy,GARD,,,,,,,,,,,,Exencephaly,TRUE,FALSE,Active +GARD:21990,Active,Orphanet,ORPHA:482606,Disorder,[Malformation syndrome],X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,,"A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.",,,,,,,,, +GARD:21991,Active,Orphanet,ORPHA:485358,Disorder,[Malformation syndrome],Propylthiouracil embryofetopathy,"[PTU embryofetopathy, PTU embryopathy, Propylthiouracil embryopathy]","Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).",,,,,,,,, +GARD:21992,Active,Orphanet,ORPHA:485382,Group of disorders,[Category],Genetic non-acquired premature ovarian failure,,,,,,,,,,, +GARD:21993,Active,Orphanet,ORPHA:485405,Disorder,[Malformation syndrome],16p12.1p12.3 triplication syndrome,"[Tetrasomy 16p12.1p12.3, Trip(16)(p12.1p12.3)]","16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.",,,,,,,,, +GARD:21994,Active,Orphanet,ORPHA:485418,Disorder,[Disease],EMILIN-1-related connective tissue disease,,"A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures.",,,,,,,,, +GARD:21995,Active,Orphanet,ORPHA:485426,Disorder,[Disease],Isolated congenital hepatic fibrosis,[Isolated CHF],"A rare parenchymal liver disease characterized by progressive fibrosis of the portal tracts due to arrest of maturation of the ductal plate of the intrahepatic bile ducts. Clinically, it may manifest as a portal hypertensive, cholangitic, mixed, or latent form. Onset of symptoms is mostly in adolescence or young adulthood. Hepatocellular function is relatively well preserved.",,,,,,,,, +GARD:21996,Active,Orphanet,ORPHA:485631,Group of disorders,[Clinical group],Congenital bile acid synthesis defect,[BASD],,,,,,,,,, +GARD:21997,Active,Orphanet,ORPHA:486955,Group of disorders,[Category],Rare pediatric rheumatologic disease,,,,,,,,,,, +GARD:21998,Active,Orphanet,ORPHA:487809,Disorder,[Disease],Pediatric collagenous gastritis,[Childhood-onset collagenous gastritis],"A rare gastroenterologic disease characterized by the histopathological finding of a thickened (> 10 µm) gastric subepithelial collagen layer in association with an inflammatory infiltrate in the lamina propria. Patients typically present with upper abdominal pain and severe iron deficiency anemia. The condition is not commonly associated with autoimmune diseases, and involvement of the colon is less frequent than in the adult form. The disease takes a generally benign course with limited long-term morbidity and no increased mortality.",,,,,,,,, +GARD:21999,Active,Orphanet,ORPHA:487814,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,[CMT2 due to DGAT2 mutation],"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.",,,,,,,,, +GARD:22,Active,Orphanet,ORPHA:123,Disorder,[Disease],Björnstad syndrome,"[Deafness-pili torti-hypogonadism syndrome, Hearing loss-pili torti-hypogonadism syndrome]",Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti.,[262000],,,,,Bjornstad syndrome,TRUE,FALSE,Active +GARD:220,Active,Orphanet,ORPHA:563,Disorder,[Disease],Peripartum cardiomyopathy,[Postpartum cardiomyopathy],"Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.",,,,,,Peripartum cardiomyopathy,TRUE,FALSE,Active +GARD:22000,Active,Orphanet,ORPHA:488239,Disorder,[Disease],Acute macular neuroretinopathy,[AMNR],"A rare, acquired retinal disorder characterised by transient or permanent visual impairment accompanied by the presence of reddish-brown, wedge-shaped lesions in the macula, the apices of which tend to point towards the fovea. The lesions usually appear in a petalloid or tear-drop configuration. Patients tend to be young, Caucasian, and female.",,,,,,,,, +GARD:22001,Active,Orphanet,ORPHA:488437,Disorder,[Malformation syndrome],SIX2-related frontonasal dysplasia,[SIX2-related FND],"A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described.",,,,,,,,, +GARD:22002,Active,Orphanet,ORPHA:488586,Disorder,[Malformation syndrome],Congenital amyoplasia,[Amyoplasia congenita],"A rare sporadic arthrogryposis syndrome characterized by multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted, and sometimes dislocated. The knees may be fixed in extension or flexion, and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue.",,,,,,,,, +GARD:22003,Active,Orphanet,ORPHA:494424,Disorder,[Morphological anomaly],Extracranial carotid artery aneurysm,"[ECAA, ECCA]","A rare vascular anomaly characterized by dilation of the internal or the common carotid artery greater than 150% of the diameter of the normal, healthy vessel. Lesions of the carotid bifurcation are typically fusiform, degenerative in nature, and may occur bilaterally, while saccular aneurysms are usually unilateral and mostly located in the middle segment of the internal carotid artery. Symptomatic patients may present with a palpable pulsating mass, local pain, cerebral ischemia, peripheral nerve dysfunction, stridor, or voice changes due to local compression.",,,,,,,,, +GARD:22004,Active,Orphanet,ORPHA:494428,Disorder,[Disease],Idiopathic pleuroparenchymal fibroelastosis,"[IPPFE, Idiopathic pleuropulmonary fibroelastosis]","A rare idiopathic interstitial pneumonia characterized by prominent subpleural and parenchymal fibroelastosis and pleural fibrosis, predominantly involving the upper lobes. Signs and symptoms include non-productive cough, dyspnea, and recurrent respiratory infections. Pneumothorax is a frequently reported complication. Pulmonary function test reveals a restrictive pattern and reduced diffusing capacity. Computed tomography shows pleural thickening with signs of fibrosis (traction bronchiectasis, architectural distortion, and loss of volume), and reticulation.",,,,,,,,, +GARD:22005,Active,Orphanet,ORPHA:494448,Subtype of disorder,[Histopathological subtype],Vulvar squamous cell carcinoma,[Squamous cell carcinoma of the vulva],"A rare vulvar carcinoma characterized by an ulcer, nodule, macule, or pedunculated mass which is histologically composed of infiltrating islands of malignant squamous cells. Histological subtypes include keratinizing, non-keratinizing, basaloid, warty, and verrucous carcinomas. Some tumors are associated with human papilloma virus, smoking, high grade squamous intraepithelial lesion, chronic vulvar inflammatory disorders, or differentiated vulvar intraepithelial neoplasia. Patients may present with discharge, bleeding, or pain. Most important prognostic features are tumor depth and lymph node status.",,,,,,,,, +GARD:22006,Active,Orphanet,ORPHA:494451,Subtype of disorder,[Histopathological subtype],Vulvar basal cell carcinoma,[Basal cell carcinoma of vulva],"A rare vulvar carcinoma characterized by a slowly growing ulcer or nodule which is histologically composed of demarcated nests of palisaded basal cells originating at the epidermal-dermal junction. Occasionally, the tumor may be extensively pigmented. Patients most commonly present with pruritus. The lesion is usually treated by local excision, although groin metastases have been reported.",,,,,,,,, +GARD:22007,Active,Orphanet,ORPHA:494454,Subtype of disorder,[Histopathological subtype],Vulvar adenocarcinoma,[Adenocarcinoma of the vulva],"A rare vulvar carcinoma characterized by a malignant epithelial neoplasm of glandular origin and/or with glandular characteristics arising in the vulva, including adenocarcinoma of mammary gland type, sweat gland type, and intestinal type, as well as adenocarcinomas of the Bartholin glands and Paget disease of the vulva. Depending on the type of tumor and disease stage, patients may present with a solitary vulvar mass, bleeding, or (in the case of Paget disease) a pruritic, erythematous, eczematous lesion.",,,,,,,,, +GARD:22008,Active,Orphanet,ORPHA:494457,Group of disorders,[Category],Rare hyperkinetic movement disorder,,,,,,,,,,, +GARD:22009,Active,Orphanet,ORPHA:495818,Disorder,[Malformation syndrome],9q33.3q34.11 microdeletion syndrome,"[Del(9)(q33.3q34.11), Deletion 9q33.3q34.11, Monosomy 9q33.3q34.11]","A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias.",,,,,,,,, +GARD:22010,Active,Orphanet,ORPHA:495875,Disorder,[Malformation syndrome],Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,[Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons.",,,,,,,,, +GARD:22011,Active,Orphanet,ORPHA:495879,Disorder,[Morphological anomaly],Congenital agenesis of the scrotum,"[Congenital absence of the scrotum, Congenital scrotal absence, Congenital scrotal agenesis]","A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies.",,,,,,,,, +GARD:22012,Active,Orphanet,ORPHA:496689,Disorder,[Disease],Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,[Kyphoscoliosis-lateral tongue atrophy-HSP syndrome],"A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement.",,,,,,,,, +GARD:22013,Active,Orphanet,ORPHA:496916,Group of disorders,[Category],Rare genetic hyperkinetic movement disorder,,,,,,,,,,, +GARD:22014,Active,Orphanet,ORPHA:496924,Group of disorders,[Category],Non-inflammatory vasculopathy,,,,,,,,,,, +GARD:22015,Active,Orphanet,ORPHA:497623,Group of disorders,[Clinical group],C12ORF65-related combined oxidative phosphorylation defect,[C12ORF65-related COXPD],,,,,,,,,, +GARD:22016,Active,Orphanet,ORPHA:497737,Disorder,[Disease],Epidermolytic nevus,"[Epidermal nevus with epidermolytic hyperkeratosis, Epidermolytic epidermal nevus, Epidermolytic verrucous epidermal nevus]","A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the upper epidermis with coarse keratohyaline granules. There is no extra-cutaneous involvement. Affected individuals are at risk of parenting a child with bullous ichthyosiform erythroderma.",,,,,,,,, +GARD:22017,Active,Orphanet,ORPHA:498251,Disorder,[Disease],Menstrual cycle-dependent periodic fever,"[Luteal-phase-dependent febrile episode, Luteal-phase-dependent periodic fever, Menstrual cycle-dependent febrile episode]",A rare anomaly of puberty or/and menstrual cycle characterized by recurrent fevers (higher than 38 degrees Celsius) associated with the luteal phase of the menstrual cycle in women.,,,,,,,,, +GARD:22018,Active,Orphanet,ORPHA:498345,Group of disorders,[Category],Biliary atresia and associated disorders,,,,,,,,,,, +GARD:22019,Active,Orphanet,ORPHA:498350,Group of disorders,[Clinical group],Syndromic biliary atresia,,,,,,,,,,, +GARD:2202,Active,Orphanet,ORPHA:1962,Disorder,[Malformation syndrome],Exostoses-anetodermia-brachydactyly type E syndrome,,"An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.",[133690],,,,,Exostoses anetodermia brachydactyly type E,TRUE,FALSE,Retired +GARD:22020,Active,Orphanet,ORPHA:498445,Group of disorders,[Category],Genetic inflammatory or rheumatoid-like osteoarthropathy,,,,,,,,,,, +GARD:22021,Active,Orphanet,ORPHA:498448,Group of disorders,[Category],Overgrowth or tall stature syndrome with skeletal involvement,,,,,,,,,,, +GARD:22022,Active,Orphanet,ORPHA:498451,Group of disorders,[Category],Dysostosis with brachydactyly without extraskeletal manifestations,,,,,,,,,,, +GARD:22023,Active,Orphanet,ORPHA:498454,Group of disorders,[Category],Dysostosis with brachydactyly with extraskeletal manifestations,,,,,,,,,,, +GARD:22024,Active,Orphanet,ORPHA:498457,Group of disorders,[Category],Longitudinal limb defect,,,,,,,,,,, +GARD:22025,Active,Orphanet,ORPHA:498461,Group of disorders,[Category],Terminal transverse limb defect,,,,,,,,,,, +GARD:22026,Active,Orphanet,ORPHA:498464,Group of disorders,[Category],Non-syndromic preaxial polydactyly,,,,,,,,,,, +GARD:22027,Active,Orphanet,ORPHA:498467,Group of disorders,[Category],Non-syndromic postaxial polydactyly,,,,,,,,,,, +GARD:22028,Active,Orphanet,ORPHA:498470,Group of disorders,[Category],Non-syndromic complex polydactyly,,,,,,,,,,, +GARD:22029,Active,Orphanet,ORPHA:498474,Disorder,[Disease],Hyaline fibromatosis syndrome,,"A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhea, increased susceptibility to infections, and severe failure to thrive.",,,,,,,,, +GARD:22030,Active,Orphanet,ORPHA:498477,Group of disorders,[Category],Ectrodactyly with and without other manifestations,,,,,,,,,,, +GARD:22031,Active,Orphanet,ORPHA:498481,Disorder,[Malformation syndrome],LRP5-related primary osteoporosis,,"A rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.",,,,,,,,, +GARD:22032,Active,Orphanet,ORPHA:498488,Disorder,[Malformation syndrome],Overgrowth syndrome with 2q37 translocation,,"A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.",,,,,,,,, +GARD:22033,Active,Orphanet,ORPHA:498491,Group of disorders,[Category],Complete hemimelia,,,,,,,,,,, +GARD:22034,Active,Orphanet,ORPHA:498494,Disorder,[Morphological anomaly],Mirror-image polydactyly,,"A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies.",,,,,,,,, +GARD:22035,Active,Orphanet,ORPHA:498693,Disorder,[Disease],MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,[MYBPC1-related autosomal recessive non-lethal AMC syndrome],"A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fulness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia.",,,,,,,,, +GARD:22036,Active,Orphanet,ORPHA:499009,Disorder,[Disease],Congenital syphilis,"[MTCT of syphilis, Mother-to-child transmission of syphilis]","A rare teratologic disease caused by vertical transmission of the spirochete Treponema pallidum from an infected mother to the fetus, characterized by early congenital syphilis during the first two years of life (maculopapular rash progressing to desquamation, hepatosplenomegaly, osteochondritis, snuffles, and iritis), followed by late congenital syphilis with the classic Hutchinson's triad of Hutchinson's teeth, interstitial keratitis, and eighth nerve deafness. Additional signs may include saddle nose, saber shins, seizures, and mental retardation. Congenital syphilis can also result in stillbirth, neonatal death, and nonimmune hydrops.",,,,,,,,, +GARD:22037,Active,Orphanet,ORPHA:499047,Group of disorders,[Clinical group],Autoimmune/inflammatory optic neuropathy,,,,,,,,,,, +GARD:22038,Active,Orphanet,ORPHA:499085,Disorder,[Disease],Chronic relapsing inflammatory optic neuropathy,"[CRION, Chronic recurrent isolated optic neuritis]","A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.",,,,,,,,, +GARD:22039,Active,Orphanet,ORPHA:499096,Disorder,[Disease],Isolated optic neuritis,[ION],"A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disc appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.",,,,,,,,, +GARD:2204,Active,Orphanet+OMIM,OMIM:133700,Subtype of disorder,[Disease subtype],"Exostoses, multiple, type i","[multiple osteochondromas, multiple cartilaginous exostoses, osteochondromatosis, diaphyseal aclasis, Ext]","Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent ({32:Peterson, 1989}).\n\nTwo conditions in which multiple exostoses occur are metachondromatosis ({156250}) and the Langer-Giedion syndrome (LGS; {150230}); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP; {135100}), occipital horn syndrome ({304150}), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent ({40:Silverman, 1985}).\n\n<Subhead> Genetic Heterogeneity of Multiple Exostoses\n\nMultiple exostoses type II (EXT2; {133701}) is caused by mutation in the EXT2 gene ({608210}) on chromosome 11p11. Multiple exostoses type III (EXT3; {600209}) has been mapped to a locus on chromosome 19.",[133700],[321],[Multiple osteochondromas],[7035],,"Exostoses, multiple, type 1",TRUE,FALSE,Active +GARD:22040,Active,Orphanet,ORPHA:499103,Disorder,[Disease],Recurrent idiopathic neuroretinitis,[RINR],"A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.",,,,,,,,, +GARD:22041,Active,Orphanet,ORPHA:499107,Disorder,[Disease],Idiopathic optic perineuritis,[Idiopathic OPN],"A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc edema is observed in most cases. The condition is usually unilateral.",,,,,,,,, +GARD:22042,Active,Orphanet,ORPHA:499182,Disorder,[Disease],Pilomatrix carcinoma,"[Calcified epithelial carcinoma of Malherbe, Calcifying epitheliocarcinoma, Malignant pilomatricoma, Trichomatrical carcinoma]","A rare skin tumor characterized by an asymptomatic, solitary, often ulcerated nodule most commonly located in the face, involving the deep dermis, subcutaneous tissue, and skeletal muscle and fascia. Histopathologically, the lesion is composed of aggregates of atypical basaloid cells with numerous mitoses. Typical features include shadow cells, keratin cysts, and trichohyalin and keratohyalin granules. The tumor is locally aggressive and shows a tendency to recur after incomplete excision. Regional lymph node or visceral metastasis has been reported.",,,,,,,,, +GARD:22043,Active,Orphanet,ORPHA:500163,Disorder,[Malformation syndrome],Witteveen-Kolk syndrome,"[SIN3A-related intellectual disability syndrome, WITKOS]","A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.",,,,,,,,, +GARD:22044,Active,Orphanet,ORPHA:502305,Disorder,[Morphological anomaly],Cochleovestibular malformation,,"A rare otorhinolaryngological malformation characterized by varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence.",,,,,,,,, +GARD:22045,Active,Orphanet,ORPHA:502318,Disorder,[Morphological anomaly],Cochlear nerve deficiency,,"A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal.",,,,,,,,, +GARD:22046,Active,Orphanet,ORPHA:502369,Group of disorders,[Category],Squamous cell carcinoma of oral cavity and lip,,,,,,,,,,, +GARD:22047,Active,Orphanet,ORPHA:502430,Disorder,[Malformation syndrome],Metopic ridging-ptosis-facial dysmorphism syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.",,,,,,,,, +GARD:22048,Active,Orphanet,ORPHA:502437,Disorder,[Malformation syndrome],4q25 proximal deletion syndrome,"[Proximal del(4)(q25), Proximal monosomy 4q25]","A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.",,,,,,,,, +GARD:22049,Active,Orphanet,ORPHA:502499,Disorder,[Disease],Erythema multiforme major,"[Erythema exsudativum multiforme majus, Erythema multiforme majus]","A rare skin disease characterized most typically by targetoid papules with concentric color variation symmetrically distributed on the extensor surfaces of the extremities, accompanied by mucosal involvement (in particular the oral mucosa) in the form of initial erythema with edema, progressing to superficial erosions with pseudomembrane formation. Grouping of lesions around the elbows and knees and edema of the nail folds may also be observed. The condition is commonly proceeded by prodromal symptoms of malaise, fever, and myalgias, and is usually self-limiting, although recurrent disease is seen in a subset of patients.",,,,,,,,, +GARD:2205,Active,Orphanet+OMIM,OMIM:133701,Subtype of disorder,[Disease subtype],"Exostoses, multiple, type ii",,"Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see EXT1 ({133700}).",[133701],[321],[Multiple osteochondromas],[7035],,"Exostoses, multiple, type 2",TRUE,FALSE,Active +GARD:22050,Active,Orphanet,ORPHA:505208,Disorder,[Disease],3-methylglutaconic aciduria type 8,[MGA8],"A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.",,,,,,,,, +GARD:22051,Active,Orphanet,ORPHA:505395,Disorder,[Particular clinical situation in a disease or syndrome],Ventilator-induced diaphragmatic dysfunction,[VIDD],,,,,,,,,, +GARD:22052,Active,Orphanet,ORPHA:506052,Group of disorders,[Category],Neuroendocrine neoplasm of pancreas,"[PNEN, Pancreatic NEN, Pancreatic neuroendocrine neoplasm]",,,,,,,,,, +GARD:22053,Active,Orphanet,ORPHA:506060,Group of disorders,[Category],Functioning neuroendocrine tumor of pancreas,"[Functioning PNET, Functioning pancreatic NET, Functioning pancreatic neuroendocrine tumor, Functioning well-differentiated NEN of pancreas, Functioning well-differentiated neuroendocrine neoplasm of pancreas, Functioning well-differentiated pancreatic NEN, Functioning well-differentiated pancreatic neuroendocrine neoplasm]",,,,,,,,,, +GARD:22054,Active,Orphanet,ORPHA:506075,Disorder,[Disease],Non-functioning neuroendocrine tumor of pancreas,"[Non-functioning PNET, Non-functioning pancreatic NET, Non-functioning pancreatic neuroendocrine tumor, Non-functioning well-differentiated NEN of pancreas, Non-functioning well-differentiated neuroendocrine neoplasm of pancreas, Non-functioning well-differentiated pancreatic NEN, Non-functioning well-differentiated pancreatic neuroendocrine neoplasm]","A rare neuroendocrine tumor of pancreas characterized by a well-differentiated epithelial pancreatic neuroendocrine neoplasm measuring at least 0.5 cm, without distinct hormonal syndrome. Tumors <0.5 cm are called microadenomas. Microadenomatosis is the multifocal occurrence of microadenomas. Histopathologic examination shows an organoid growth pattern and expression of synaptophysin and chromogranin A on immunohistochemistry. Tumors are often discovered incidentally, or patients may present with symptoms related to local or metastatic tumor spread. Microadenomas are considered benign, while larger tumors may behave in a malignant manner with extrapancreatic spread, metastasis, or recurrence.",,,,,,,,, +GARD:22055,Active,Orphanet,ORPHA:506090,Disorder,[Disease],Serotonin-producing neuroendocrine tumor of pancreas,"[Serotonin-producing PNET, Serotonin-producing pancreatic NET, Serotonin-producing pancreatic neuroendocrine tumor]","A rare functioning neuroendocrine tumor of pancreas characterized by a typically well-differentiated neoplasm composed of cells expressing serotonin. Patients may present with atypical carcinoid syndrome with abdominal pain, diarrhea, weight loss, and/or flushing. Carcinoid syndrome is usually present only when there are liver metastases. The tumors tend to be larger than non-functioning tumors and are associated with a poorer prognosis because they are almost always metastatic.",,,,,,,,, +GARD:22056,Active,Orphanet,ORPHA:506098,Disorder,[Disease],Neuroendocrine carcinoma of pancreas,"[Pancreatic NEC, Pancreatic neuroendocrine carcinoma, Poorly-differentiated NEN of pancreas, Poorly-differentiated neuroendocrine neoplasm of pancreas, Poorly-differentiated pancreatic NEN, Poorly-differentiated pancreatic neuroendocrine neoplasm]","A rare neuroendocrine neoplasm of pancreas characterized by a high-grade malignant epithelial tumor with neuroendocrine differentiation. Based on histopathologic appearance, a small cell (composed of diffuse sheets of cells) and a large cell type (showing a nesting/trabecular pattern) are distinguished. Synaptophysin and chromogranin are positive on immunohistochemistry. The Ki-67 proliferation index is typically very high (>60 - 80%). Patients present with back pain, jaundice, and/or non-specific abdominal symptoms. Serum hormone activity is unusual. The tumor is highly aggressive with poor prognosis.",,,,,,,,, +GARD:22057,Active,Orphanet,ORPHA:506112,Disorder,[Disease],Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas,"[MiNEN of pancreas, Pancreatic MiNEN, Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm]","A rare neuroendocrine neoplasm of pancreas characterized by morphologically recognizable neuroendocrine and non-neuroendocrine components, each constituting at least 30% of the tumor volume. Based on histopathology, mixed ductal- and mixed acinar-neuroendocrine carcinomas are distinguished. Patients usually present with unspecific symptoms related to tumor growth and/or metastasis, although occurrence of Zollinger-Ellison syndrome has been reported. Resectability of the tumor is the most important prognostic factor.",,,,,,,,, +GARD:22058,Active,Orphanet,ORPHA:506136,Disorder,[Disease],Neuroendocrine neoplasm of esophagus,"[Esophageal NEN, Esophageal neuroendocrine neoplasm, NEN of esophagus]","A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. The tumors typically occur in the lower esophagus, often in association with Barrett mucosa. NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome.",,,,,,,,, +GARD:22059,Active,Orphanet,ORPHA:506207,Group of disorders,[Category],Rare disorder potentially indicated for transplant,,"A group of rare disorders with irreversible organ and/or system dysfunction(s), or the effects of dysfunction after alternative medical and surgical treatments have been utilized, for which the benefits of transplantation outweigh the risk of continuing alternative modalities.",,,,,,,,, +GARD:2206,Active,Orphanet+OMIM,OMIM:600209,Subtype of disorder,[Disease subtype],"Exostoses, multiple, type iii",,"For a phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see ({133700}).",[600209],[321],[Multiple osteochondromas],[7035],,"Exostoses, multiple, type 3",TRUE,FALSE,Active +GARD:22060,Active,Orphanet,ORPHA:506210,Group of disorders,[Category],Rare disorder potentially indicated for liver transplant,,,,,,,,,,, +GARD:22061,Active,Orphanet,ORPHA:506213,Group of disorders,[Category],Rare disorder potentially indicated for kidney transplant,,,,,,,,,,, +GARD:22062,Active,Orphanet,ORPHA:506216,Group of disorders,[Category],Rare disorder potentially indicated for bowel transplant,,,,,,,,,,, +GARD:22063,Active,Orphanet,ORPHA:506219,Group of disorders,[Category],Rare disorder potentially indicated for hematopoietic stem cell transplant,,,,,,,,,,, +GARD:22064,Active,Orphanet,ORPHA:506222,Group of disorders,[Category],Rare disorder potentially indicated for lung transplant,,,,,,,,,,, +GARD:22065,Active,Orphanet,ORPHA:506225,Group of disorders,[Category],Rare disorder potentially indicated for heart transplant,,,,,,,,,,, +GARD:22066,Active,Orphanet,ORPHA:506784,Subtype of disorder,[Clinical subtype],Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome,"[SJS/TEN overlap syndrome, Stevens-Johnson/TEN overlap syndrome, Stevens-Johnson/toxic epidermal necrolysis overlap syndrome]",,,,,,,,,, +GARD:22067,Active,Orphanet,ORPHA:508410,Disorder,[Morphological anomaly],Familial intestinal malrotation,,"A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies.",,,,,,,,, +GARD:22068,Active,Orphanet,ORPHA:508476,Disorder,[Malformation syndrome],Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,"[Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome, Hyaluronidase 2 deficiency]","A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.",,,,,,,,, +GARD:22069,Active,Orphanet,ORPHA:508501,Disorder,[Malformation syndrome],Oral-facial-digital syndrome with short stature and brachymesophalangy,"[OFD18, Oral-facial-digital syndrome type 18, Orofaciodigital syndrome type 18]","A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.",,,,,,,,, +GARD:2207,Active,Orphanet,ORPHA:322,Disorder,[Malformation syndrome],Exstrophy-epispadias complex,"[BEEC, Bladder exstrophy-epispadias-cloacal extrophy complex, EEC]","Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.","[258040, 600057]",,,,,Exstrophy-epispadias complex,TRUE,FALSE,Active +GARD:22070,Active,Orphanet,ORPHA:508533,Disorder,[Disease],Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,"[EXTL3-related neuro-immuno-skeletal dysplasia syndrome, Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts.",,,,,,,,, +GARD:22071,Active,Orphanet,ORPHA:508542,Disorder,[Disease],Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,[MYSM1 deficiency],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging.",,,,,,,,, +GARD:22072,Active,Orphanet,ORPHA:512017,Disorder,[Disease],Chronic lymphoproliferative disorder of natural killer cells,"[CLPD-NK, CNKL, Chronic NK lymphocytosis, Chronic NK-cell lymphocytosis, Chronic lymphoproliferative disorder of NK-cells, NK-cell lineage granular lymphocyte proliferative disorder]","A rare large granular lymphocyte leukemia characterized by persistent (> 6 months) natural killer cell lymphocytosis in the absence of clinical diagnosis of leukemia/lymphoma, autoimmune disease, or chronic viral infections. The clinical course is variable, but generally indolent. Patients often remain asymptomatic, or may present with clinical manifestations including vasculitic skin lesions, neutropenic infections, musculoskeletal symptoms, peripheral neuropathy, or splenomegaly.",,,,,,,,, +GARD:22073,Active,Orphanet,ORPHA:512034,Group of disorders,[Clinical group],Large granular lymphocyte leukemia,,,,,,,,,,, +GARD:22074,Active,Orphanet,ORPHA:512103,Disorder,[Disease],Autosomal recessive epidermolytic ichthyosis,[AREI],"A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous, amorphous structure.",,,,,,,,, +GARD:22075,Active,Orphanet,ORPHA:512260,Disorder,[Disease],Congenital cerebellar ataxia due to RNU12 mutation,,"A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.",,,,,,,,, +GARD:22076,Active,Orphanet,ORPHA:514352,Disorder,[Malformation syndrome],Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome,[Serpentine-like syndrome],"A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.",,,,,,,,, +GARD:22077,Active,Orphanet,ORPHA:514980,Group of disorders,[Clinical group],ATP13A2-related parkinsonism,,,,,,,,,,, +GARD:22078,Active,Orphanet,ORPHA:519264,Group of disorders,[Category],Inflammatory/autoimmune disorder involving the lacrimal system,,,,,,,,,,, +GARD:22079,Active,Orphanet,ORPHA:519266,Group of disorders,[Category],Rare disorder of the ocular adnexa,,,,,,,,,,, +GARD:2208,Legacy,GARD,,,,,,,,,,,,"Exsudative retinopathy familial, autosomal dominant",TRUE,FALSE,Retired +GARD:22080,Active,Orphanet,ORPHA:519268,Group of disorders,[Category],Rare disorder with ectropion,,,,,,,,,,, +GARD:22081,Active,Orphanet,ORPHA:519270,Group of disorders,[Category],Rare disorder with entropion,,,,,,,,,,, +GARD:22082,Active,Orphanet,ORPHA:519272,Group of disorders,[Category],Structural developmental eye defect,,,,,,,,,,, +GARD:22083,Active,Orphanet,ORPHA:519274,Group of disorders,[Category],Syndromic lacrimal system disorder,,,,,,,,,,, +GARD:22084,Active,Orphanet,ORPHA:519276,Group of disorders,[Category],Anterior segment developmental abnormality with extraocular manifestations,,,,,,,,,,, +GARD:22085,Active,Orphanet,ORPHA:519278,Group of disorders,[Category],Infective keratitis,,,,,,,,,,, +GARD:22086,Active,Orphanet,ORPHA:519280,Group of disorders,[Category],Rare conjunctivitis,,,,,,,,,,, +GARD:22087,Active,Orphanet,ORPHA:519282,Group of disorders,[Category],Rare corneal disorder,,,,,,,,,,, +GARD:22088,Active,Orphanet,ORPHA:519284,Group of disorders,[Category],Rare disorder of the anterior segment of the eye,,,,,,,,,,, +GARD:22089,Active,Orphanet,ORPHA:519286,Group of disorders,[Category],Rare disorder of the pupil,,,,,,,,,,, +GARD:2209,Legacy,GARD,,,,,,,,,,,,"Exsudative retinopathy familial, autosomal recessive",TRUE,FALSE,Retired +GARD:22090,Active,Orphanet,ORPHA:519288,Group of disorders,[Category],Rare disorder with corneal involvement as a major feature,,,,,,,,,,, +GARD:22091,Active,Orphanet,ORPHA:519290,Group of disorders,[Category],Rare inflammatory/autoimmune corneal disorder,,,,,,,,,,, +GARD:22092,Active,Orphanet,ORPHA:519292,Group of disorders,[Category],Syndromic ectopia lentis,,,,,,,,,,, +GARD:22093,Active,Orphanet,ORPHA:519294,Group of disorders,[Category],Syndromic microspherophakia,,,,,,,,,,, +GARD:22094,Active,Orphanet,ORPHA:519296,Group of disorders,[Category],Rare disorder with pigmented sclera,,,,,,,,,,, +GARD:22095,Active,Orphanet,ORPHA:519298,Group of disorders,[Category],Rare scleral disorder,,,,,,,,,,, +GARD:22096,Active,Orphanet,ORPHA:519300,Group of disorders,[Category],Isolated chorioretinal dystrophy,,,,,,,,,,, +GARD:22097,Active,Orphanet,ORPHA:519302,Group of disorders,[Category],Isolated macular dystrophy,,,,,,,,,,, +GARD:22098,Active,Orphanet,ORPHA:519304,Group of disorders,[Category],Isolated vitreoretinopathy,,,,,,,,,,, +GARD:22099,Active,Orphanet,ORPHA:519306,Group of disorders,[Category],Isolated progressive inherited retinal disorder,,,,,,,,,,, +GARD:221,Active,Orphanet,ORPHA:217604,Group of disorders,[Category],Dilated cardiomyopathy,,,,,,,,Dilated cardiomyopathy,TRUE,FALSE,Active +GARD:2210,Legacy,GARD,,,,,,,,,,,,"Exsudative retinopathy familial, X-linked, recessive",TRUE,FALSE,Retired +GARD:22100,Active,Orphanet,ORPHA:519309,Group of disorders,[Category],Rare choroidal disorder,,,,,,,,,,, +GARD:22101,Active,Orphanet,ORPHA:519311,Group of disorders,[Category],Rare disorder of the posterior segment of the eye,,,,,,,,,,, +GARD:22102,Active,Orphanet,ORPHA:519313,Group of disorders,[Category],Rare macular disorder,,,,,,,,,,, +GARD:22103,Active,Orphanet,ORPHA:519315,Group of disorders,[Category],Rare retinal disorder,,,,,,,,,,, +GARD:22104,Active,Orphanet,ORPHA:519317,Group of disorders,[Category],Rare retinal vasculopathy,,,,,,,,,,, +GARD:22105,Active,Orphanet,ORPHA:519319,Group of disorders,[Category],Isolated stationary inherited retinal disorder,,,,,,,,,,, +GARD:22106,Active,Orphanet,ORPHA:519321,Group of disorders,[Category],Syndromic chorioretinal dystrophy,,,,,,,,,,, +GARD:22107,Active,Orphanet,ORPHA:519323,Group of disorders,[Category],Syndromic macular dystrophy,,,,,,,,,,, +GARD:22108,Active,Orphanet,ORPHA:519325,Group of disorders,[Category],Syndromic inherited retinal disorder,[Syndromic retinal dystrophy],,,,,,,,,, +GARD:22109,Active,Orphanet,ORPHA:519327,Group of disorders,[Category],Syndromic vitreoretinopathy,,,,,,,,,,, +GARD:2211,Legacy,GARD,,,,,,,,,,,,"Exudative retinopathy, familial",TRUE,FALSE,Retired +GARD:22110,Active,Orphanet,ORPHA:519329,Group of disorders,[Category],Rare disorder involving multiple structures of the eye,,,,,,,,,,, +GARD:22111,Active,Orphanet,ORPHA:519331,Group of disorders,[Category],Secondary early-onset glaucoma,,,,,,,,,,, +GARD:22112,Active,Orphanet,ORPHA:519333,Group of disorders,[Category],Congenital optic disc excavation,,,,,,,,,,, +GARD:22113,Active,Orphanet,ORPHA:519337,Group of disorders,[Category],Disorder with optic nerve compression,,,,,,,,,,, +GARD:22114,Active,Orphanet,ORPHA:519339,Group of disorders,[Category],Pseudopapilledema,,,,,,,,,,, +GARD:22115,Active,Orphanet,ORPHA:519341,Group of disorders,[Category],Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature,,,,,,,,,,, +GARD:22116,Active,Orphanet,ORPHA:519343,Group of disorders,[Category],Rare ophthalmic disorder with cortical involvement,,,,,,,,,,, +GARD:22117,Active,Orphanet,ORPHA:519345,Group of disorders,[Category],Rare disorder with optic disc malformation,,,,,,,,,,, +GARD:22118,Active,Orphanet,ORPHA:519347,Group of disorders,[Category],Rare neuromuscular disorder with ocular motility/alignment anomaly,,,,,,,,,,, +GARD:22119,Active,Orphanet,ORPHA:519349,Group of disorders,[Category],Rare ophthalmic disorder with cranial nerve involvement,,,,,,,,,,, +GARD:22120,Active,Orphanet,ORPHA:519351,Group of disorders,[Category],Rare optic nerve disorder,,,,,,,,,,, +GARD:22121,Active,Orphanet,ORPHA:519353,Group of disorders,[Category],Rare trochlear nerve disorder,,,,,,,,,,, +GARD:22122,Active,Orphanet,ORPHA:519355,Group of disorders,[Category],Rare ocular motility/alignment disorder,,,,,,,,,,, +GARD:22123,Active,Orphanet,ORPHA:519386,Disorder,[Morphological anomaly],Isolated congenital entropion,,"A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.",,,,,,,,, +GARD:22124,Active,Orphanet,ORPHA:519390,Disorder,[Disease],Isolated blepharochalasis,,"A rare palpebral disorder characterized by recurrent episodes of painless eyelid edema. It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudoepicanthal folds, lacrimal gland prolapse, or ptosis.",,,,,,,,, +GARD:22125,Active,Orphanet,ORPHA:519392,Disorder,[Disease],Isolated iridoschisis,,"A rare disorder of the anterior segment of the eye characterized by spontaneous separation of the anterior layer of the iris stroma from the posterior stroma and muscle layers. The anterior layer then splits into strands, and the free ends float freely in the anterior chamber. The condition usually affects patients in the seventh decade of life and is often associated with glaucoma. It may begin on one side but is typically a bilateral disease. The inferior part of the iris is most commonly involved.",,,,,,,,, +GARD:22126,Active,Orphanet,ORPHA:519396,Disorder,[Morphological anomaly],Isolated microspherophakia,,"A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma.",,,,,,,,, +GARD:22127,Active,Orphanet,ORPHA:519398,Disorder,[Morphological anomaly],Isolated foveal hypoplasia,,"A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.",,,,,,,,, +GARD:22128,Active,Orphanet,ORPHA:519400,Disorder,[Morphological anomaly],Peripapillary staphyloma,,"A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon.",,,,,,,,, +GARD:22129,Active,Orphanet,ORPHA:519402,Disorder,[Morphological anomaly],Isolated megalopapilla,,"A rare ophthalmic disorder characterized by an abnormally large optic disc (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disc, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla.",,,,,,,,, +GARD:2213,Active,Orphanet,ORPHA:1964,Disorder,[Malformation syndrome],Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,[Char-Douglas-Dungan syndrome],"Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.",[133750],,,,,Extrasystoles short stature hyperpigmentation microcephaly,TRUE,FALSE,Active +GARD:22130,Active,Orphanet,ORPHA:519404,Disorder,[Morphological anomaly],Optic disc pit,,"A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life.",,,,,,,,, +GARD:22131,Active,Orphanet,ORPHA:519406,Disorder,[Disease],Thygeson superficial punctate keratitis,[Thygeson superficial punctate keratopathy],"A rare disorder of the anterior segment of the eye characterized by chronic recurrent epithelial keratitis manifesting with groupings of small, slightly elevated, ovoid, grayish-white intraepithelial opacities, usually located in the central cornea. Patients present with photophobia, tearing, foreign body sensation, and blurred vision. The condition is typically bilateral, takes a relapsing-remitting course, and is mostly self-limiting after a few years.",,,,,,,,, +GARD:22132,Active,Orphanet,ORPHA:519408,Disorder,[Disease],Mooren ulcer,,"A rare disorder of the anterior segment of the eye characterized by a unilateral or bilateral rapidly progressive, intractable, painful, ulcerative keratitis which initially affects the peripheral cornea and may spread circumferentially and then centrally. The destructive process involves stromal corneal tissue only, leaving the epithelium and endothelium largely unaffected. There is no involvement of the adjacent sclera. The condition can be complicated by glaucoma, cataract, and perforation.",,,,,,,,, +GARD:22133,Active,Orphanet,ORPHA:519410,Disorder,[Disease],Terrien marginal degeneration,,"A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, asymmetric, usually non-inflammatory degeneration of the peripheral cornea, resulting in stromal thinning, vascularization, lipid deposition, and against-the-rule astigmatism with decreased visual acuity. Degeneration typically involves the superior aspect of the cornea first and extends circumferentially, leading to circumferential ectasia of the peripheral cornea. Opacification of the central cornea may occur at a very advanced stage. In rare cases, the condition is complicated by perforation.",,,,,,,,, +GARD:22134,Active,Orphanet,ORPHA:519930,Disorder,[Disease],Fungal keratitis,"[Keratomycosis, Mycotic keratitis]","A rare disorder of the anterior segment of the eye characterized by ocular infection by human-pathogenic fungi, most commonly Aspergillus, Candida, or Fusarium species, which gain access into the corneal stroma through a defect in the corneal epithelium. Risk factors include trauma, ocular surface disease, contact lenses, or immunocompromised state. Patients present with pain, foreign body sensation, redness, photophobia, tearing, secretion, or blurred vision. The condition may be complicated by corneal destruction and perforation, endophthalmitis, scleritis, and panophthalmitis.",,,,,,,,, +GARD:22135,Active,Orphanet,ORPHA:520814,Group of disorders,[Category],Rare disorder of the visual organs,,,,,,,,,,, +GARD:22136,Active,Orphanet,ORPHA:520817,Group of disorders,[Category],Isolated inherited retinal disorder,,,,,,,,,,, +GARD:22137,Active,Orphanet,ORPHA:521123,Disorder,[Disease],Radiation-induced plexopathy,,"A rare radiation-induced disorder characterized by impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paresthesia, followed by weakness, atrophy, and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paresthesia, pain, and weakness, and are more often bilateral.",,,,,,,,, +GARD:22138,Active,Orphanet,ORPHA:521127,Disorder,[Disease],Osteoradionecrosis of the mandible,,"A rare radiation-induced disorder characterized by exposed irradiated bone that fails to heal over a period of three months without evidence of persisting or recurrent tumor. Patients present with pain, dysesthesia, dysgeusia, fetor oris, trismus, ulceration or necrosis of the mucosa with exposure of necrotic bone, and local suppuration. Complications include pathological fractures, formation of intra- or extra-oral fistulae, and infection. MRI shows cortical destruction, abnormal bone marrow signal, and irregular contrast enhancement.",,,,,,,,, +GARD:22139,Active,Orphanet,ORPHA:521132,Group of disorders,[Category],Radiation-induced disorder,,,,,,,,,,, +GARD:22140,Active,Orphanet,ORPHA:521232,Group of disorders,[Category],Genetic primary orthostatic disorder,,,,,,,,,,, +GARD:22141,Active,Orphanet,ORPHA:521236,Group of disorders,[Category],Primary orthostatic disorder,,,,,,,,,,, +GARD:22142,Active,Orphanet,ORPHA:521308,Disorder,[Malformation syndrome],Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome,,"A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.",,,,,,,,, +GARD:22143,Active,Orphanet,ORPHA:521411,Disorder,[Disease],Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,[Autosomal recessive axonal CMT due to copper metabolism defect],"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.",,,,,,,,, +GARD:22144,Active,Orphanet,ORPHA:521432,Disorder,[Disease],Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,,"A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.",,,,,,,,, +GARD:22145,Active,Orphanet,ORPHA:521445,Disorder,[Malformation syndrome],Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,,,,,,,,,,, +GARD:22146,Active,Orphanet,ORPHA:521450,Disorder,[Disease],LAMA5-related multisystemic syndrome,,"A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.",,,,,,,,, +GARD:22147,Active,Orphanet,ORPHA:522037,Disorder,[Disease],Primary autoimmune enteropathy,,"A rare intestinal disease characterized by immune-mediated injury of the intestinal mucosa, leading to severe, chronic, intractable diarrhea, malabsorption, and severe weight loss or failure to thrive. Characteristic histologic findings in the small intestine include partial or complete blunting of the villi, deep crypt lymphocytosis, increased crypt apoptosis, and minimal surface intraepithelial lymphocytosis. In addition, the stomach, colon, and esophagus may also be involved. Circulating autoantibodies against enterocytes and/or goblet cells are found in many, but not all, patients. The diagnosis requires exclusion of other causes of villous atrophy.",,,,,,,,, +GARD:22148,Active,Orphanet,ORPHA:522043,Group of disorders,[Clinical group],Syndromic autoimmune enteropathy,,,,,,,,,,, +GARD:22149,Active,Orphanet,ORPHA:522504,Group of disorders,[Category],Rare genetic disorder of the visual organs,,,,,,,,,,, +GARD:22150,Active,Orphanet,ORPHA:522506,Group of disorders,[Category],Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature,,,,,,,,,,, +GARD:22151,Active,Orphanet,ORPHA:522508,Group of disorders,[Category],Rare genetic ophthalmic disorder with cortical involvement,,,,,,,,,,, +GARD:22152,Active,Orphanet,ORPHA:522510,Group of disorders,[Category],Rare genetic ophthalmic disorder with cranial nerve involvement,,,,,,,,,,, +GARD:22153,Active,Orphanet,ORPHA:522512,Group of disorders,[Category],Rare genetic optic nerve disorder,,,,,,,,,,, +GARD:22154,Active,Orphanet,ORPHA:522514,Group of disorders,[Category],Congenital optic disc excavation of genetic origin,,,,,,,,,,, +GARD:22155,Active,Orphanet,ORPHA:522516,Group of disorders,[Category],Rare genetic ocular motility/alignment disorder,,,,,,,,,,, +GARD:22156,Active,Orphanet,ORPHA:522518,Group of disorders,[Category],Rare genetic disorder with strabismus,,,,,,,,,,, +GARD:22157,Active,Orphanet,ORPHA:522520,Group of disorders,[Category],Syndromic genetic disorder with strabismus,,,,,,,,,,, +GARD:22158,Active,Orphanet,ORPHA:522522,Group of disorders,[Category],Rare genetic neuromuscular disorder with ocular motility/alignment anomaly,,,,,,,,,,, +GARD:22159,Active,Orphanet,ORPHA:522524,Group of disorders,[Category],Rare genetic disorder of the ocular adnexa,,,,,,,,,,, +GARD:2216,Active,Orphanet,ORPHA:3172,Disorder,[Malformation syndrome],Eyebrow duplication-syndactyly syndrome,,"Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.",[227210],,,,,"Eyebrows duplication of, with stretchable skin and syndactyly",TRUE,FALSE,Active +GARD:22160,Active,Orphanet,ORPHA:522526,Group of disorders,[Category],Rare genetic palpebral disorder,,,,,,,,,,, +GARD:22161,Active,Orphanet,ORPHA:522528,Group of disorders,[Category],Rare genetic eyelid malposition disorder,,,,,,,,,,, +GARD:22162,Active,Orphanet,ORPHA:522530,Group of disorders,[Category],Rare genetic disorder with entropion,,,,,,,,,,, +GARD:22163,Active,Orphanet,ORPHA:522532,Group of disorders,[Category],Rare genetic disorder of the lacrimal apparatus,,,,,,,,,,, +GARD:22164,Active,Orphanet,ORPHA:522534,Group of disorders,[Category],Lacrimal drainage system anomaly of genetic origin,,,,,,,,,,, +GARD:22165,Active,Orphanet,ORPHA:522536,Group of disorders,[Category],Structural developmental eye defect of genetic origin,,,,,,,,,,, +GARD:22166,Active,Orphanet,ORPHA:522538,Group of disorders,[Category],Rare genetic disorder of the anterior segment of the eye,,,,,,,,,,, +GARD:22167,Active,Orphanet,ORPHA:522540,Group of disorders,[Category],Anterior segment developmental anomaly of genetic origin,,,,,,,,,,, +GARD:22168,Active,Orphanet,ORPHA:522542,Group of disorders,[Category],Rare genetic disorder with conjunctival involvement as a major feature,,,,,,,,,,, +GARD:22169,Active,Orphanet,ORPHA:522546,Group of disorders,[Category],Rare genetic disorder with lens opacification,,,,,,,,,,, +GARD:22170,Active,Orphanet,ORPHA:522548,Group of disorders,[Category],Syndromic genetic cataract,,,,,,,,,,, +GARD:22171,Active,Orphanet,ORPHA:522550,Group of disorders,[Category],Lens size anomaly of genetic origin,,,,,,,,,,, +GARD:22172,Active,Orphanet,ORPHA:522552,Group of disorders,[Category],Lens position anomaly of genetic origin,,,,,,,,,,, +GARD:22173,Active,Orphanet,ORPHA:522554,Group of disorders,[Category],Syndromic genetic ectopia lentis,,,,,,,,,,, +GARD:22174,Active,Orphanet,ORPHA:522556,Group of disorders,[Category],Rare genetic corneal disorder,,,,,,,,,,, +GARD:22175,Active,Orphanet,ORPHA:522558,Group of disorders,[Category],Rare genetic disorder with corneal involvement as a major feature,,,,,,,,,,, +GARD:22176,Active,Orphanet,ORPHA:522560,Group of disorders,[Category],Genetic corneal dystrophy,,,,,,,,,,, +GARD:22177,Active,Orphanet,ORPHA:522562,Group of disorders,[Category],Genetic superficial corneal dystrophy,,,,,,,,,,, +GARD:22178,Active,Orphanet,ORPHA:522564,Group of disorders,[Category],Syndromic genetic keratoconus,,,,,,,,,,, +GARD:22179,Active,Orphanet,ORPHA:522566,Group of disorders,[Category],Rare genetic inflammatory/autoimmune corneal disorder,,,,,,,,,,, +GARD:2218,Legacy,GARD,,,,,,,,,,,,Facial asymmetry temporal seizures,TRUE,FALSE,Retired +GARD:22180,Active,Orphanet,ORPHA:522568,Group of disorders,[Category],Rare genetic disorder of the pupil,,,,,,,,,,, +GARD:22181,Active,Orphanet,ORPHA:522570,Group of disorders,[Category],Rare genetic disorder of the posterior segment of the eye,,,,,,,,,,, +GARD:22182,Active,Orphanet,ORPHA:522572,Group of disorders,[Category],Rare genetic retinal disorder,,,,,,,,,,, +GARD:22183,Active,Orphanet,ORPHA:522574,Group of disorders,[Category],Rare genetic macular disorder,,,,,,,,,,, +GARD:22184,Active,Orphanet,ORPHA:522576,Group of disorders,[Category],Rare genetic retinal vasculopathy,,,,,,,,,,, +GARD:22185,Active,Orphanet,ORPHA:522578,Group of disorders,[Category],Rare genetic disorder involving multiple structures of the eye,,,,,,,,,,, +GARD:22186,Active,Orphanet,ORPHA:522580,Group of disorders,[Category],Secondary early-onset glaucoma of genetic origin,,,,,,,,,,, +GARD:22187,Active,Orphanet,ORPHA:522584,Group of disorders,[Category],Rare genetic choroidal disorder,,,,,,,,,,, +GARD:22188,Active,Orphanet,ORPHA:523000,Group of disorders,[Category],Pediatric-onset glaucoma,,,,,,,,,,, +GARD:22189,Active,Orphanet,ORPHA:525677,Group of disorders,[Category],Genetic congenital malformation of the eye with glaucoma as a major feature,,,,,,,,,,, +GARD:22190,Active,Orphanet,ORPHA:525731,Disorder,[Disease],Pediatric-onset Graves disease,[Pediatric-onset Basedow disease],"A rare endocrine disease characterized by the presence of serum autoantibodies against thyroid-stimulating hormone receptors, leading to increased thyroid hormone production and secretion, causing diffuse toxic goiter. Patients present in childhood with signs of thyrotoxicosis (such as tachycardia, weight loss, hand tremor, and sweating), diffuse enlargement of the thyroid gland, and orbitopathy. Additional signs and symptoms include decreased academic and athletic performance, accelerated growth, restlessness, fatigue, sensitivity to heat, and amenorrhea, among others.",,,,,,,,, +GARD:22191,Active,Orphanet,ORPHA:525738,Disorder,[Disease],Prepubertal anorexia nervosa,,"A rare neurologic disease with psychiatric involvement characterized by significantly lower-than-expected body weight due to voluntary reduction of food intake, intense fear of becoming overweight, and a distorted body image, in prepubescent children. Secondary manifestations include growth, developmental, and pubertal delay, decreased bone density, severe metabolic and endocrine dysfunction, cognitive impairment, depression, deterioration of academic or athletic performance, as well as difficulties in familial and peer relations, among others.",,,,,,,,, +GARD:22192,Active,Orphanet,ORPHA:527276,Disorder,[Disease],Encephalopathy due to mitochondrial and peroxisomal fission defect,,"A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.",,,,,,,,, +GARD:22193,Active,Orphanet,ORPHA:527468,Disorder,[Malformation syndrome],Diaphragmatic hernia-short bowel-asplenia syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.",,,,,,,,, +GARD:22194,Active,Orphanet,ORPHA:528623,Disorder,[Disease],Hereditary angioedema with C1Inh deficiency,"[HAE with C1 inhibitor deficiency, HAE with C1Inh deficiency, Hereditary angioneurotic edema with C1 inhibitor deficiency, Hereditary angioneurotic edema with C1Inh deficiency]","A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases.",,,,,,,,, +GARD:22195,Active,Orphanet,ORPHA:528647,Disorder,[Disease],Hereditary angioedema with normal C1Inh,"[HAE with normal C1 inhibitor, HAE with normal C1Inh, Hereditary angioedema with normal C1 inhibitor, Hereditary angioneurotic edema with normal C1 inhibitor, Hereditary angioneurotic edema with normal C1Inh]","A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.",,,,,,,,, +GARD:22196,Active,Orphanet,ORPHA:528663,Disorder,[Disease],Acquired angioedema with C1Inh deficiency,"[Acquired angioneurotic edema with C1 inhibitor deficiency, Acquired angioneurotic edema with C1Inh deficiency]","A rare non-histaminic angioedema characterized by potentially life-threatening episodes of edema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting edema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa, and severe edema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable.",,,,,,,,, +GARD:22197,Active,Orphanet,ORPHA:529799,Disorder,[Clinical syndrome],Acute bilirubin encephalopathy,"[ABE, Acute kernicterus]","A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.",,,,,,,,, +GARD:22198,Active,Orphanet,ORPHA:529808,Disorder,[Clinical syndrome],Chronic bilirubin encephalopathy,"[BIND, Bilirubin-induced neurological dysfunction, CBE, KSD, Kernicterus spectrum disorder]","A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.",,,,,,,,, +GARD:22199,Active,Orphanet,ORPHA:529831,Disorder,[Particular clinical situation in a disease or syndrome],Letrozole toxicity,,,,,,,,,,, +GARD:2220,Legacy,GARD,,,,,,,,,,,,Facial clefting corpus callosum agenesis,TRUE,FALSE,Active +GARD:22200,Active,Orphanet,ORPHA:529852,Disorder,[Disease],Combined hepatocellular carcinoma and cholangiocarcinoma,"[Combined HCC-CC, Combined hepatocellular-cholangiocarcinoma, Hepatocholangiocarcinoma, cHCC-CC]","A rare hepatic tumor characterized by the presence of both hepatocytic and cholangiocytic differentiation within a primary liver carcinoma. The lesion commonly arises in the context of chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Typical manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. The entity has been associated with a worse prognosis than hepatocellular carcinoma after resection.",,,,,,,,, +GARD:22201,Active,Orphanet,ORPHA:529864,Disorder,[Disease],Secondary erythromelalgia,[Secondary erythermalgia],,,,,,,,,, +GARD:22202,Active,Orphanet,ORPHA:529962,Disorder,[Malformation syndrome],17q24.2 microdeletion syndrome,[Del(17)(q24)],"A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.",,,,,,,,, +GARD:22203,Active,Orphanet,ORPHA:529974,Group of disorders,[Clinical group],Immune dysregulation with inflammatory bowel disease,,,,,,,,,,, +GARD:22204,Active,Orphanet,ORPHA:529977,Disorder,[Disease],Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,,"A rare genetic immune disease characterized by early onset of recurrent bacterial, viral, and fungal infections, chronic inflammatory bowel disease, gastritis, and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia.",,,,,,,,, +GARD:22205,Active,Orphanet,ORPHA:529980,Disorder,[Disease],Inflammatory bowel disease-recurrent sinopulmonary infections syndrome,[NFAT5 haploinsufficiency],"A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells.",,,,,,,,, +GARD:22206,Active,Orphanet,ORPHA:530033,Disorder,[Morphological anomaly],Dermoid or epidermoid cyst of the central nervous system,[Dermoid or epidermoid cyst of the CNS],"A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.",,,,,,,,, +GARD:22207,Active,Orphanet,ORPHA:530298,Subtype of disorder,[Clinical subtype],Progressive myoclonic epilepsy with neuroserpin inclusion bodies,[Early onset familial encephalopathy with neuroserpin inclusion bodies],,,,,,,,,, +GARD:22208,Active,Orphanet,ORPHA:530303,Subtype of disorder,[Clinical subtype],Progressive dementia with neuroserpin inclusion bodies,[Late-onset familial encephalopathy with neuroserpin inclusion bodies],,,,,,,,,, +GARD:22209,Active,Orphanet,ORPHA:530313,Group of disorders,[Clinical group],PIK3CA-related overgrowth syndrome,[PROS],,,,,,,,,, +GARD:2221,Active,Orphanet,ORPHA:1969,Disorder,[Malformation syndrome],Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,"[FACES syndrome, Friedman-Goodman syndrome]","Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.",,,,,,FACES syndrome,TRUE,FALSE,Active +GARD:22210,Active,Orphanet,ORPHA:530792,Disorder,[Disease],RELA fusion-positive ependymoma,[Supratentorial C11ORF95-RELA fused ependymoma],"A rare ependymal tumor characterized by the presence of a RELA fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.",,,,,,,,, +GARD:22211,Active,Orphanet,ORPHA:530983,Disorder,[Disease],Lamb-Shaffer syndrome,[SOX5 haploinsufficiency syndrome],"A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures.",,,,,,,,, +GARD:22212,Active,Orphanet,ORPHA:531151,Disorder,[Malformation syndrome],9q21.13 microdeletion syndrome,,"A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.",,,,,,,,, +GARD:22213,Active,Orphanet,ORPHA:536391,Group of disorders,[Clinical group],RASopathy,,,,,,,,,,, +GARD:22214,Active,Orphanet,ORPHA:536471,Disorder,[Disease],Spondylodysplastic Ehlers-Danlos syndrome,"[Spondylodysplastic EDS, spEDS]","A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later_onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype.",,,,,,,,, +GARD:22215,Active,Orphanet,ORPHA:536516,Disorder,[Disease],Myopathic Ehlers-Danlos syndrome,"[EDS/myopathy overlap syndrome, Myopathic EDS]","A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.",,,,,,,,, +GARD:22216,Active,Orphanet,ORPHA:1900,Subtype of disorder,[Clinical subtype],Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,"[Cutis hyperelastica, EDS VIA, Ehlers-Danlos syndrome type 6A, Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency, Lysyl hydroxylase-deficient EDS, Ocular-scoliotic EDS, kEDS-PLOD1]","A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low‐set ears, epicanthal folds, down‐slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.",[225400],,,,,,,, +GARD:22217,Active,Orphanet,ORPHA:537072,Subtype of disorder,[Clinical subtype],PLG-related hereditary angioedema with normal C1Inh,[PLG-related HAE with normal C1 inhibitor],,,,,,,,,, +GARD:22218,Active,Orphanet,ORPHA:538101,Disorder,[Disease],Congenital axonal neuropathy with encephalopathy,,"A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.",,,,,,,,, +GARD:22219,Active,Orphanet,ORPHA:538238,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic chloride channel defect,,,,,,,,,,, +GARD:2222,Active,Orphanet,ORPHA:1970,Disorder,[Malformation syndrome],Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.",[220219],,,,,"Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy",TRUE,FALSE,Retired +GARD:22220,Active,Orphanet,ORPHA:538863,Subtype of disorder,[Clinical subtype],Classic pyoderma gangrenosum,[Ulcerative pyoderma gangrenosum],"A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.",,,,,,,,, +GARD:22221,Active,Orphanet,ORPHA:538866,Subtype of disorder,[Clinical subtype],Pustular pyoderma gangrenosum,,"A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.",,,,,,,,, +GARD:22222,Active,Orphanet,ORPHA:538869,Subtype of disorder,[Clinical subtype],Bullous pyoderma gangrenosum,[Phemphigoid pyoderma gangrenosum],"A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.",,,,,,,,, +GARD:22223,Active,Orphanet,ORPHA:538872,Subtype of disorder,[Clinical subtype],Vegetative pyoderma gangrenosum,[Granulomatous pyoderma gangrenosum],"A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.",,,,,,,,, +GARD:22224,Active,Orphanet,ORPHA:541443,Disorder,[Morphological anomaly],Anomalous aortic origin of the left coronary artery,"[AOLCA, L-ACAOS, Left coronary artery from right aortic sinus]","A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia.",,,,,,,,, +GARD:22225,Active,Orphanet,ORPHA:541454,Disorder,[Morphological anomaly],Anomalous aortic origin of the right coronary artery,"[AORCA, R-ACAOS, Right coronary artery from left aortic sinus]","A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present.",,,,,,,,, +GARD:22226,Active,Orphanet,ORPHA:541478,Group of disorders,[Clinical group],Anomalous aortic origin of coronary artery,[AAOCA],"A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed.",,,,,,,,, +GARD:22227,Active,Orphanet,ORPHA:541507,Disorder,[Morphological anomaly],Anomalous origin of coronary artery from the pulmonary artery,[ACAPA],"A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed.",,,,,,,,, +GARD:22228,Active,Orphanet,ORPHA:542323,Disorder,[Particular clinical situation in a disease or syndrome],CAR T cell therapy-associated cytokine release syndrome,"[CAR T cell therapy-associated CRS, Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome]","A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterized by a systemic inflammatory response due to massive activation of leukocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock, and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnea to acute respiratory distress syndrome (ARDS).",,,,,,,,, +GARD:22229,Active,Orphanet,ORPHA:542568,Disorder,[Morphological anomaly],Quadricuspid aortic valve,,"A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom.",,,,,,,,, +GARD:22230,Active,Orphanet,ORPHA:542822,Group of disorders,[Clinical group],Anomaly of the coronary ostia,,"A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia.",,,,,,,,, +GARD:22231,Active,Orphanet,ORPHA:543470,Disorder,[Disease],Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,,"A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.",,,,,,,,, +GARD:22232,Active,Orphanet,ORPHA:544254,Disorder,[Disease],SYNGAP1-related developmental and epileptic encephalopathy,[SYNGAP1-related DEE],"A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).",,,,,,,,, +GARD:22233,Active,Orphanet,ORPHA:544458,Group of disorders,[Clinical group],Hemolytic uremic syndrome,[HUS],,,,,,,,,, +GARD:22234,Active,Orphanet,ORPHA:544482,Disorder,[Disease],Infection-related hemolytic uremic syndrome,[Infection-related HUS],,,,,,,,,, +GARD:22235,Active,Orphanet,ORPHA:544493,Subtype of disorder,[Clinical subtype],Streptococcus pneumoniae-associated hemolytic uremic syndrome,"[S. pneumoniae-associated HUS, SP-HUS]",,,,,,,,,, +GARD:22236,Active,Orphanet,ORPHA:544578,Subtype of disorder,[Clinical subtype],"Congenital primary megaureter, refluxing and obstructed form",,,,,,,,,,, +GARD:22237,Active,Orphanet,ORPHA:544590,Group of disorders,[Category],Collagen-related glomerular basement membrane disease,,,,,,,,,,, +GARD:22238,Active,Orphanet,ORPHA:544628,Disorder,[Disease],Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,,,,,,,,,,, +GARD:22239,Active,Orphanet,ORPHA:555434,Subtype of disorder,[Clinical subtype],Fibrohistiocytic inflammatory pseudotumor of the liver,,"A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.",,,,,,,,, +GARD:22240,Active,Orphanet,ORPHA:555437,Subtype of disorder,[Clinical subtype],Lymphoplasmacytic inflammatory pseudotumor of the liver,[IgG4-related inflammatory pseudotumor of the liver],"A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.",,,,,,,,, +GARD:22241,Active,Orphanet,ORPHA:555874,Disorder,[Morphological anomaly],Congenital tricuspid valve dysplasia,,"A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur.",,,,,,,,, +GARD:22242,Active,Orphanet,ORPHA:555905,Disorder,[Disease],IgA pemphigus,,"A rare autoimmune bullous skin disease characterized by painful and pruritic vesiculopustular eruptions resulting from circulating IgA antibodies against keratinocyte cell surface components. The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis.",,,,,,,,, +GARD:22243,Active,Orphanet,ORPHA:556030,Subtype of disorder,[Clinical subtype],Early-onset familial hypoaldosteronism,"[Early-onset familial hyperreninemic hypoaldosteronism, Severe aldosterone synthase deficiency]","A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.",,,,,,,,, +GARD:22244,Active,Orphanet,ORPHA:556037,Subtype of disorder,[Clinical subtype],Late-onset familial hypoaldosteronism,"[Late-onset familial hyperreninemic hypoaldosteronism, Mild aldosterone synthase deficiency]","A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.",,,,,,,,, +GARD:22245,Active,Orphanet,ORPHA:556508,Group of disorders,[Category],Rare disorder due to poisoning,,,,,,,,,,, +GARD:22246,Active,Orphanet,ORPHA:556985,Disorder,[Disease],Early-onset calcifying leukoencephalopathy-skeletal dysplasia,,"A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.",,,,,,,,, +GARD:22247,Active,Orphanet,ORPHA:557056,Disorder,[Disease],Spastic ataxia-dysarthria due to glutaminase deficiency,,"A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.",,,,,,,,, +GARD:22248,Active,Orphanet,ORPHA:557866,Group of disorders,[Category],Rare disorder with Hirschsprung disease as a major feature,,,,,,,,,,, +GARD:22249,Active,Orphanet,ORPHA:558411,Disorder,[Disease],Idiopathic gastroparesis,,"A rare idiopathic gastroesophageal disease characterized by delayed gastric emptying in the absence of mechanical obstruction of the gastric outlet. Patients present symptoms including nausea, vomiting, early satiety, postprandial fullness, bloating, abdominal pain and, in more severe cases, dehydration, electrolyte disturbances, weight loss and malnutrition.",,,,,,,,, +GARD:2225,Legacy,GARD,,,,,,,,,,,,Facies unusual arthrogryposis advanced skeletal malformations,TRUE,FALSE,Retired +GARD:22250,Active,Orphanet,ORPHA:562639,Disorder,[Disease],Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,"[Overlap syndromes of autoimmune liver diseases, PBC/PSC and AIH overlap syndrome]","A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical phenotype vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.",,,,,,,,, +GARD:22251,Active,Orphanet,ORPHA:563576,Subtype of disorder,[Clinical subtype],Autoimmune hepatitis type 1,[AIH type 1],"A form of autoimmune hepatitis characterized by clinical presentation as cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, and presence of circulating autoantibodies, specifically antinuclear antibodies (ANA), anti-smooth muscle antibodies (anti-SMA), and/or anti-soluble liver antigen/liver pancreas antigen antibodies (anti-SLA/LP). The disease predominantly develops at a post-pubertal age and most commonly takes a chronic course, although acute or acute severe presentation may also be observed. Typical concurrent autoimmune diseases are autoimmune thyroiditis and rheumatic diseases.",,,,,,,,, +GARD:22252,Active,Orphanet,ORPHA:563581,Subtype of disorder,[Clinical subtype],Autoimmune hepatitis type 2,[AIH type 2],"A form of autoimmune hepatitis characterized by clinical presentation as cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, and presence of circulating autoantibodies, specifically antibodies to liver kidney microsome type 1 (anti-LKM1) and anti-liver cytosol type 1 (anti-LC1) antibodies. The disease typically manifests in childhood or adolescence with an acute onset, often with acute liver failure. Long-term immunosuppression is usually required. Reported concurrent autoimmune diseases are autoimmune thyroiditis, diabetes mellitus, and vitiligo.",,,,,,,,, +GARD:22253,Active,Orphanet,ORPHA:563589,Subtype of disorder,[Clinical subtype],Seronegative autoimmune hepatitis,"[Autoantibody-negative autoimmune hepatitis, Seronegative AIH]","A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.",,,,,,,,, +GARD:22254,Active,Orphanet,ORPHA:563609,Subtype of disorder,[Clinical subtype],Isolated anencephaly,,,,,,,,,,, +GARD:22255,Active,Orphanet,ORPHA:563612,Subtype of disorder,[Clinical subtype],Isolated exencephaly,,,,,,,,,,, +GARD:22256,Active,Orphanet,ORPHA:563666,Subtype of disorder,[Histopathological subtype],Serous cystadenoma of childhood,[Serous cystadenoma of ovary in childhood],,,,,,,,,, +GARD:22257,Active,Orphanet,ORPHA:563671,Subtype of disorder,[Histopathological subtype],Mucinous cystadenoma of childhood,[Mucinous cystadenoma of ovary in childhood],,,,,,,,,, +GARD:22258,Active,Orphanet,ORPHA:563676,Subtype of disorder,[Histopathological subtype],Seromucinous cystadenoma of childhood,[Seromucinous cystadenoma of ovary in childhood],,,,,,,,,, +GARD:22259,Active,Orphanet,ORPHA:563684,Subtype of disorder,[Clinical subtype],Furuncular myiasis due to Dermatobia hominis,"[Furunculoid myiasis due to Dermatobia hominis, Furunculous myiasis due to Dermatobia hominis]",,,,,,,,,, +GARD:2226,Legacy,GARD,,,,,,,,,,,,Facio digito genital syndrome recessive form,TRUE,FALSE,Active +GARD:22260,Active,Orphanet,ORPHA:563687,Subtype of disorder,[Clinical subtype],Furuncular myiasis due to Cordylobia anthropophaga,"[Furunculoid myiasis due to Cordylobia anthropophaga, Furunculous myiasis due to Cordylobia anthropophaga]",,,,,,,,,, +GARD:22261,Active,Orphanet,ORPHA:563690,Subtype of disorder,[Clinical subtype],Furuncular myiasis due to Cordylobia rodhaini,"[Furunculoid myiasis due to Cordylobia rodhaini, Furunculous myiasis due to Cordylobia rodhaini]",,,,,,,,,, +GARD:22262,Active,Orphanet,ORPHA:563708,Disorder,[Disease],Syndromic congenital sodium diarrhea,[Syndromic congenital tufting enteropathy],"A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral chonal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly.",,,,,,,,, +GARD:22263,Active,Orphanet,ORPHA:563951,Subtype of disorder,[Clinical subtype],Isolated congenital aglossia,,,,,,,,,,, +GARD:22264,Active,Orphanet,ORPHA:563954,Subtype of disorder,[Clinical subtype],Isolated congenital hypoglossia,,,,,,,,,,, +GARD:22265,Active,Orphanet,ORPHA:564127,Group of disorders,[Clinical group],Genetic nephrotic syndrome,[Hereditary nephrotic syndrome],,,,,,,,,, +GARD:22266,Active,Orphanet,ORPHA:564178,Disorder,[Disease],Primary hypomagnesemia-refractory seizures-intellectual disability syndrome,,,,,,,,,,, +GARD:22267,Active,Orphanet,ORPHA:565612,Disorder,[Disease],Triglyceride deposit cardiomyovasculopathy,"[Neutral lipid storage disease with severe cardiovascular involvement, TGCV]",,,,,,,,,, +GARD:22268,Active,Orphanet,ORPHA:565641,Disorder,[Disease],Primary desmosis coli,[Aplastic desmosis coli],"A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.",,,,,,,,, +GARD:22269,Active,Orphanet,ORPHA:565782,Disorder,[Disease],Methotrexate toxicity,,"A rare intoxication characterized by acute renal tubular toxicity due to crystallization of methotrexate in the renal tubular lumen (which in turn leads to impaired methotrexate clearance and further deterioration of renal function and exacerbation of non-renal adverse events), myelosuppression with pancytopenia, gastrointestinal mucositis, maculopapular skin rash, chemical conjunctivitis, hepatotoxicity (reversible chemical hepatitis and hyperbilirubinemia), pulmonary toxicity, and, in severe cases, multiorgan failure. Central nervous system involvement, including headaches, seizures, and stroke-like symptoms, may also be observed.",,,,,,,,, +GARD:2227,Legacy,GARD,,,,,,,,,,,,Facio skeletal genital syndrome Rippberger type,TRUE,FALSE,Active +GARD:22270,Active,Orphanet,ORPHA:565837,Disorder,[Disease],Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23,"[LGMD type R23, Laminin subunit alpha 2-related LGMD R23, Laminin subunit alpha 2-related late-onset muscular dystrophy]",,,,,,,,,, +GARD:22271,Active,Orphanet,ORPHA:565899,Disorder,[Disease],POMGNT2-related limb-girdle muscular dystrophy R24,"[LGMD type R24, Limb-girdle muscular dystrophy type R24, POMGNT2-related LGMD R24, POMGNT2-related muscular dystrophy]",,,,,,,,,, +GARD:22272,Active,Orphanet,ORPHA:565909,Disorder,[Disease],Calpain-3-related limb-girdle muscular dystrophy D4,"[LGMD type D4, LGMD1I, Limb-girdle muscular dystrophy type D4]",,,,,,,,,, +GARD:22273,Active,Orphanet,ORPHA:566067,Disorder,[Disease],CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,[CAIN],"A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.",,,,,,,,, +GARD:22274,Active,Orphanet,ORPHA:566192,Disorder,[Disease],Congenital autosomal recessive small-platelet thrombocytopenia,[CARST],"A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.",,,,,,,,, +GARD:22275,Active,Orphanet,ORPHA:566231,Disorder,[Disease],Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,"[RTHa, Resistance to thyroid hormone alpha, Resistance to thyroid hormone due to a mutation in TRa]","A rare primary congenital hypothyroidism characterized by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms.",,,,,,,,, +GARD:22276,Active,Orphanet,ORPHA:566393,Subtype of disorder,[Clinical subtype],Acute mast cell leukemia,[Acute MCL],"A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.",,,,,,,,, +GARD:22277,Active,Orphanet,ORPHA:566396,Subtype of disorder,[Clinical subtype],Chronic mast cell leukemia,[Chronic MCL],"A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.",,,,,,,,, +GARD:22278,Active,Orphanet,ORPHA:566841,Disorder,[Disease],Liver adenomatosis,[Hepatic adenomatosis],"A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.",,,,,,,,, +GARD:22279,Active,Orphanet,ORPHA:566847,Disorder,[Morphological anomaly],Aprosencephaly/atelencephaly spectrum,[AP/AT spectum],"A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies.",,,,,,,,, +GARD:2228,Legacy,GARD,,,,,,,,,,,,Facio thoraco genital syndrome,TRUE,FALSE,Active +GARD:22280,Active,Orphanet,ORPHA:566852,Subtype of disorder,[Clinical subtype],Atelencephaly,[Atelencephalic microcephaly],,,,,,,,,, +GARD:22281,Active,Orphanet,ORPHA:566857,Subtype of disorder,[Clinical subtype],Aprosencephaly,,,,,,,,,,, +GARD:22282,Active,Orphanet,ORPHA:566862,Disorder,[Malformation syndrome],Left sided atrial isomerism,"[Isomerism of left atrial appendage, LAI]",,,,,,,,,, +GARD:22283,Active,Orphanet,ORPHA:566943,Disorder,[Disease],Mueller-Weiss syndrome,"[Brailsford disease, Mueller-Weiss osteonecrosis of the tarsal bone]","A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.",,,,,,,,, +GARD:22284,Active,Orphanet,ORPHA:567502,Disorder,[Disease],B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,"[BILU syndrome, Hoffman syndrome]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.",,,,,,,,, +GARD:22285,Active,Orphanet,ORPHA:567544,Disorder,[Clinical syndrome],Idiopathic non-lupus full-house nephropathy,[Idiopathic non-lupus FHN],,,,,,,,,, +GARD:22286,Active,Orphanet,ORPHA:567546,Disorder,[Clinical syndrome],Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance,"[Idiopathic SSNS with secondary steroid resistance, Secondary SRNS, Secondary steroid-resistant nephrotic syndrome]","A rare, idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids, but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant.",,,,,,,,, +GARD:22287,Active,Orphanet,ORPHA:567550,Subtype of disorder,[Clinical subtype],Idiopathic multidrug-resistant nephrotic syndrome,,,,,,,,,,, +GARD:22288,Active,Orphanet,ORPHA:567552,Subtype of disorder,[Clinical subtype],Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy,[Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression],,,,,,,,,, +GARD:22289,Active,Orphanet,ORPHA:567554,Group of disorders,[Category],Systemic disease with glomerulopathy as a major feature,,,,,,,,,,, +GARD:2229,Active,Orphanet,ORPHA:1972,Disorder,[Malformation syndrome],Lethal faciocardiomelic dysplasia,,An extremely rare polymalformative syndrome.,[227270],,,,,Faciocardiomelic dysplasia lethal,TRUE,FALSE,Active +GARD:22290,Active,Orphanet,ORPHA:567556,Group of disorders,[Category],Genetic systemic disease with glomerulopathy as a major feature,,,,,,,,,,, +GARD:22291,Active,Orphanet,ORPHA:567558,Group of disorders,[Category],Non-genetic systemic disease with glomerulopathy as a major feature,,,,,,,,,,, +GARD:22292,Active,Orphanet,ORPHA:567560,Group of disorders,[Category],Systemic vasculitis associated with glomerulopathy,,,,,,,,,,, +GARD:22293,Active,Orphanet,ORPHA:567562,Group of disorders,[Category],Disorder with multisystemic involvement and glomerulopathy,,,,,,,,,,, +GARD:22294,Active,Orphanet,ORPHA:567564,Group of disorders,[Category],Nephrotic syndrome without extrarenal manifestations,,,,,,,,,,, +GARD:22295,Active,Orphanet,ORPHA:567983,Disorder,[Particular clinical situation in a disease or syndrome],Parenteral nutrition-associated cholestasis,[PNAC],"A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.",,,,,,,,, +GARD:22296,Active,Orphanet,ORPHA:568041,Group of disorders,[Category],Primary lymphedema without systemic or visceral involvement,,,,,,,,,,, +GARD:22297,Active,Orphanet,ORPHA:568044,Group of disorders,[Category],Primary lymphedema with systemic or visceral involvement,,,,,,,,,,, +GARD:22298,Active,Orphanet,ORPHA:568047,Group of disorders,[Category],Disorder with multisystemic involvement and primary lymphedema,,,,,,,,,,, +GARD:22299,Active,Orphanet,ORPHA:568051,Disorder,[Disease],GJC2-related late-onset primary lymphedema,,"A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.",,,,,,,,, +GARD:223,Active,Orphanet,ORPHA:252175,Subtype of disorder,[Clinical subtype],Vestibular schwannoma,"[Acoustic neurilemoma, Acoustic neurinoma, Acoustic neuroma]","Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.",,,,,,Acoustic neuroma,TRUE,FALSE,Active +GARD:2230,Active,Orphanet,ORPHA:1973,Disorder,[Malformation syndrome],Faciocardiorenal syndrome,[Eastman-Bixler syndrome],"A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.",[227280],,,,,Faciocardiorenal syndrome,TRUE,FALSE,Active +GARD:22300,Active,Orphanet,ORPHA:568056,Disorder,[Disease],Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome,"[Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome, WILD syndrome]","A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.",,,,,,,,, +GARD:22301,Active,Orphanet,ORPHA:568062,Disorder,[Disease],PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,"[Generalized lymphatic dysplasia of Fotiou, PIEZO1-related LRHF/GLD, PIEZO1-related generalized lymphatic dysplasia with systemic involvement, PIEZO1-related lymphatic-related hydrops fetalis]","A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.",,,,,,,,, +GARD:22302,Active,Orphanet,ORPHA:568065,Disorder,[Disease],EPHB4-related lymphatic-related hydrops fetalis,"[EPHB4-related LRHF/GLD, EPHB4-related generalized lymphatic dysplasia with atrial septal defect, EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis]","A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.",,,,,,,,, +GARD:22303,Active,Orphanet,ORPHA:569164,Disorder,[Disease],Angiomatoid fibrous histiocytoma,[AFH],"A rare soft tissue tumor characterized by a slow-growing, usually painless, subcutaneous nodule, predominantly located in the extremities, less frequently the trunk or head and neck region. Histopathologically, the lesion is well-circumscribed, lobulated, and composed of epitheloid, ovoid, or spindle cells arranged in a nodular and often syncytial pattern, with pseudoangiomatoid spaces and a peripheral fibrous pseudocapsule with a prominent lymphoplasmacytic cuff. The tumor is most common in the first two decades of life and usually follows an indolent course, although local recurrence may occur, while metastasis is rare.",,,,,,,,, +GARD:22304,Active,Orphanet,ORPHA:569248,Disorder,[Disease],Microcystic stromal tumor,[MCST],"A rare benign ovarian stromal tumor characterized by a stromal neoplasm with variable microcystic morphology, low mitotic activity, and diffuse nuclear beta-catenin and cyclin D1 immunoreactivity, while inhibin and calretinin are not expressed. Patients most commonly present with symptoms of a unilateral pelvic mass. Hormonal manifestations are usually absent. The tumor may be associated with familial adenomatous polyposis.",,,,,,,,, +GARD:22305,Active,Orphanet,ORPHA:569274,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 5,"[ISCA1 deficiency, MMDS5]",,,,,,,,,, +GARD:22306,Active,Orphanet,ORPHA:569816,Disorder,[Disease],CELSR1-related late-onset primary lymphedema,,"A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.",,,,,,,,, +GARD:22307,Active,Orphanet,ORPHA:569821,Disorder,[Disease],Congenital primary lymphedema of Gordon,[VEGFC-related congenital primary lymphedema],"A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.",,,,,,,,, +GARD:22308,Active,Orphanet,ORPHA:570371,Subtype of disorder,[Clinical subtype],Bartter syndrome type 5,"[Bartter syndrome type V, Transient antenatal Bartter syndrome]","A form of antenatal Bartter syndrome characterized by early maternal polyhydramnios, excessive renal salt loss with secondary metabolic alkalosis in the neonatal period that completely disappears within the first months of life.",,,,,,,,, +GARD:22309,Active,Orphanet,ORPHA:570431,Subtype of disorder,[Clinical subtype],Idiopathic multicentric Castleman disease,"[HHV-8-negative multicentric Castleman disease, Human herpesvirus-8-negative multicentric Castleman disease]",,,,,,,,,, +GARD:22310,Active,Orphanet,ORPHA:570438,Subtype of disorder,[Clinical subtype],HHV-8-associated multicentric Castleman disease,[Human herpesvirus-8-associated multicentric Castleman disease],,,,,,,,,, +GARD:22311,Active,Orphanet,ORPHA:570470,Disorder,[Disease],Ricin poisoning,,"A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of Ricinus communis, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.",,,,,,,,, +GARD:22312,Active,Orphanet,ORPHA:572333,Disorder,[Malformation syndrome],Blepharophimosis-ptosis-epicanthus inversus syndrome plus,"[3q23 microdeletion syndrome, BPES plus]",,,,,,,,,, +GARD:22313,Active,Orphanet,ORPHA:572428,Disorder,[Disease],Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,"[OAS1 deficiency, OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia]","A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.",,,,,,,,, +GARD:22314,Active,Orphanet,ORPHA:572761,Disorder,[Malformation syndrome],DONSON-related microcephaly-short stature-limb abnormalities spectrum,,A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.,,,,,,,,, +GARD:22315,Active,Orphanet,ORPHA:573163,Group of disorders,[Clinical group],Pheochromocytoma-paraganglioma,,A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.,,,,,,,,, +GARD:22316,Active,Orphanet,ORPHA:573253,Subtype of disorder,[Clinical subtype],Split cord malformation type II,"[SCM type 2, SCM type II, Split cord malformation type 2]",,,,,,,,,, +GARD:22317,Active,Orphanet,ORPHA:573278,Disorder,[Morphological anomaly],Split cord malformation,[SCM],,,,,,,,,, +GARD:22318,Active,Orphanet,ORPHA:574918,Disorder,[Disease],Predisposition to severe viral infection due to IRF7 deficiency,,,,,,,,,,, +GARD:22319,Active,Orphanet,ORPHA:574957,Disorder,[Disease],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency,[Autosomal recessive MSMD due to partial JAK1 deficiency],,,,,,,,,, +GARD:22320,Active,Orphanet,ORPHA:575553,Disorder,[Disease],Cathepsin A-related arteriopathy-strokes-leukoencephalopathy,[CARASAL],"A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.",,,,,,,,, +GARD:22321,Active,Orphanet,ORPHA:576074,Disorder,[Disease],Middle East respiratory syndrome,[MERS],,,,,,,,,, +GARD:22322,Active,Orphanet,ORPHA:576227,Subtype of disorder,[Clinical subtype],Complete atrioventricular septal defect without ventricular hypoplasia,"[Balanced complete atrioventricular canal, CAVC without ventricular hypoplasia, Complete AVSD without ventricular hypoplasia, Complete atrioventricular canal defect without ventricular hypoplasia, Complete atrioventricular septal defect with balanced ventricles]",,,,,,,,,, +GARD:22323,Active,Orphanet,ORPHA:576232,Subtype of disorder,[Clinical subtype],Partial atrioventricular septal defect with ventricular hypoplasia,"[PAVC with ventricular hypoplasia, Partial AVSD with ventricular hypoplasia, Partial atrioventricular canal defect with ventricular hypoplasia, Partial atrioventricular septal defect with ventricular imbalance, Unbalanced partial atrioventricular canal]",,,,,,,,,, +GARD:22324,Active,Orphanet,ORPHA:576235,Subtype of disorder,[Clinical subtype],Partial atrioventricular septal defect without ventricular hypoplasia,"[Balanced partial atrioventricular canal, PAVC without ventricular hypoplasia, Partial AVSD without ventricular hypoplasia, Partial atrioventricular canal defect without ventricular hypoplasia, Partial atrioventricular septal defect with balanced ventricles]",,,,,,,,,, +GARD:22325,Active,Orphanet,ORPHA:576242,Disorder,[Morphological anomaly],Intermediate atrioventricular septal defect,"[Intermediate AVSD, Intermediate atrioventricular canal defect, Transitional atrioventricular canal defect]",,,,,,,,,, +GARD:22326,Active,Orphanet,ORPHA:576278,Disorder,[Malformation syndrome],SATB2-associated syndrome,[SAS],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging.",,,,,,,,, +GARD:22327,Active,Orphanet,ORPHA:576356,Group of disorders,[Category],Sporadic human prion disease,[Idiopathic human prion disease],,,,,,,,,, +GARD:22328,Active,Orphanet,ORPHA:576360,Group of disorders,[Category],Acquired human prion disease,[Infectious human prion disease],,,,,,,,,, +GARD:22329,Active,Orphanet,ORPHA:576379,Disorder,[Disease],Iatrogenic Creutzfeldt-Jakob disease,"[Iatrogenic MCJ, iCJD]","A rare acquired human prion disease characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of CJD prions in the course of medical procedures or treatments (treatment with human pituitary growth hormone or gonadotrophin, human dura mater or corneal graft, exposure to contaminated neurosurgical instruments). Patients present rapidly progressive cognitive impairment, as well as myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, and/or akinetic mutism. EEG examination may show characteristic generalized periodic sharp wave complexes. Neuropathologic analysis reveals spongiform change, neuronal loss and gliosis, and deposition of abnormal prion protein.",,,,,,,,, +GARD:22330,Active,Orphanet,ORPHA:576742,Group of disorders,[Category],Genetic hemolytic uremic syndrome,[Genetic HUS],,,,,,,,,, +GARD:22331,Active,Orphanet,ORPHA:580572,Disorder,[Disease],Intraductal tubulopapillary neoplasm of pancreas,[ITPN],"A rare epithelial tumor of pancreas characterized by a solid, nodular mass growing within dilated pancreatic ducts, histologically composed of nodules of back-to-back tubular glands forming large cribriform structures, with high-grade dysplasia and ductal differentiation. There is no overt production of mucin. About half of the tumors occur in the head of the pancreas, one third involve the gland diffusely. Patients present with nonspecific symptoms including abdominal pain, vomiting, weight loss, steatorrhea, and diabetes mellitus, while obstructive jaundice is uncommon. This tumor type accounts for less than 1% of exocrine neoplasms and 3% of intraductal neoplasms of the pancreas.",,,,,,,,, +GARD:22332,Active,Orphanet,ORPHA:580933,Disorder,[Malformation syndrome],Lethal brain and heart developmental defects,,"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss.",,,,,,,,, +GARD:22333,Active,Orphanet,ORPHA:583097,Disorder,[Disease],Congenital infiltrating lipomatosis of the face,"[CIL-F, Facial infused lipomatosis, Fibroadipose infiltrating lipomatosis]",,,,,,,,,, +GARD:22334,Active,Orphanet,ORPHA:583595,Disorder,[Disease],"Serine biosynthesis pathway deficiency, infantile/juvenile form",,,,,,,,,,, +GARD:22335,Active,Orphanet,ORPHA:583602,Subtype of disorder,[Etiological subtype],Neu-laxova syndrome due to phosphoserine aminotransferase deficiency,"[Phosphoserine aminotransferase deficiency, prenatal form]",,,,,,,,,, +GARD:22336,Active,Orphanet,ORPHA:583607,Subtype of disorder,[Etiological subtype],Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency,"[3-phosphoglycerate dehydrogenase deficiency, prenatal form]",,,,,,,,,, +GARD:22337,Active,Orphanet,ORPHA:583612,Subtype of disorder,[Etiological subtype],Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency,"[3-phosphoserine phosphatase deficiency, prenatal form]",,,,,,,,,, +GARD:22338,Active,Orphanet,ORPHA:583856,Disorder,[Disease],Isolated splenic vein thrombosis,,,,,,,,,,, +GARD:22339,Active,Orphanet,ORPHA:583861,Disorder,[Disease],Isolated mesenteric vein thrombosis,,,,,,,,,,, +GARD:22340,Active,Orphanet,ORPHA:585867,Disorder,[Disease],Acute myeloid leukemia with t(9;22)(q34.1;q11.2),"[AML with BCR-ABL1, AML with t(9;22)(q34.1;q11.2)]","A rare acute myeloid leukemia (AML) with recurrent genetic anomaly characterized by the presence of bone marrow and peripheral blood myeloblasts with features ranging from those of minimal differentiation to granulocytic maturation, demonstrating t(9;22)(q34.1;q11.2) or molecular genetic evidence of BCR-ABL1 fusion. Evidence of chronic myeloid leukemia (CML) is absent. Patients most commonly present with leukocytosis with blast predominance and variable anemia and thrombocytopenia. Splenomegaly is less frequent and peripheral blood basophilia lower than in patients with myeloid blast transformation of CML. The disease occurs primarily in adults, and response to traditional AML therapy or tyrosine kinase inhibitor therapy alone is typically poor.",,,,,,,,, +GARD:22341,Active,Orphanet,ORPHA:585877,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,,,,,,,,,,, +GARD:22342,Active,Orphanet,ORPHA:585909,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),"[B-ALL with t(9;22)(q34.1;q11.2), BCR-ABL1-like B-ALL, Philadelphia chromosome-like B-ALL]",,,,,,,,,, +GARD:22343,Active,Orphanet,ORPHA:585918,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(v;11q23.3),"[B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged, B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged]",,,,,,,,,, +GARD:22344,Active,Orphanet,ORPHA:585929,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),"[B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1, B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1]",,,,,,,,,, +GARD:22345,Active,Orphanet,ORPHA:585936,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with hyperdiploidy,,,,,,,,,,, +GARD:22346,Active,Orphanet,ORPHA:585942,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with hypodiploidy,[Hypodiploid ALL],,,,,,,,,, +GARD:22347,Active,Orphanet,ORPHA:585948,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3),[B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH],,,,,,,,,, +GARD:22348,Active,Orphanet,ORPHA:585956,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),[B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1],,,,,,,,,, +GARD:22349,Active,Orphanet,ORPHA:586130,Disorder,[Disease],Sporadic fatal insomnia,,"A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.",,,,,,,,, +GARD:2235,Legacy,GARD,,,,,,,,,,,,Factor 2 deficiency,TRUE,FALSE,Retired +GARD:22350,Active,Orphanet,ORPHA:589442,Disorder,[Malformation syndrome],Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome,[Liberfarb syndrome],,,,,,,,,, +GARD:22351,Active,Orphanet,ORPHA:589515,Disorder,[Disease],PUM1-associated developmental disability-ataxia-seizure syndrome,"[PADDAS syndrome, SCA47]",,,,,,,,,, +GARD:22352,Active,Orphanet,ORPHA:589522,Disorder,[Disease],Spinocerebellar ataxia type 46,[SCA46],,,,,,,,,, +GARD:22353,Active,Orphanet,ORPHA:589527,Disorder,[Disease],Spinocerebellar ataxia type 45,[SCA45],,,,,,,,,, +GARD:22354,Active,Orphanet,ORPHA:589534,Subtype of disorder,[Etiological subtype],Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),[MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1],,,,,,,,,, +GARD:22355,Active,Orphanet,ORPHA:589542,Disorder,[Disease],Myeloid/lymphoid neoplasm associated with JAK2 rearrangement,[Myeloid/lymphoid neoplasms with PCM1-JAK2],,,,,,,,,, +GARD:22356,Active,Orphanet,ORPHA:589547,Disorder,[Disease],"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",,,,,,,,,,, +GARD:22357,Active,Orphanet,ORPHA:589595,Subtype of disorder,[Etiological subtype],Mixed phenotype acute leukemia with t(v;11q23.3),"[MPAL with t(v;11q23.3); KMT2A rearranged, MPAL with t(v;11q23.3); MLL rearranged]",,,,,,,,,, +GARD:22358,Active,Orphanet,ORPHA:589608,Disorder,[Disease],"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",[RHOA-related mosaic ectodermal dysplasia],"A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation.",,,,,,,,, +GARD:22359,Active,Orphanet,ORPHA:589618,Disorder,[Disease],Dystonia 28,"[DYT28, KMT2B-related dystonia]",,,,,,,,,, +GARD:22360,Active,Orphanet,ORPHA:589746,Group of disorders,[Category],Inherited gynecological cancer-predisposing syndrome,,,,,,,,,,, +GARD:22361,Active,Orphanet,ORPHA:589821,Subtype of disorder,[Clinical subtype],Congenital-onset Steinert myotonic dystrophy,"[Congenital-onset Steinert disease, Congenital-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22362,Active,Orphanet,ORPHA:589824,Subtype of disorder,[Clinical subtype],Childhood-onset Steinert myotonic dystrophy,"[Childhood-onset Steinert disease, Childhood-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22363,Active,Orphanet,ORPHA:589827,Subtype of disorder,[Clinical subtype],Juvenile-onset Steinert myotonic dystrophy,"[Juvenile-onset Steinert disease, Juvenile-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22364,Active,Orphanet,ORPHA:589830,Subtype of disorder,[Clinical subtype],Adult-onset Steinert myotonic dystrophy,"[Adult-onset Steinert disease, Adult-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22365,Active,Orphanet,ORPHA:589833,Subtype of disorder,[Clinical subtype],Late-onset Steinert myotonic dystrophy,"[Late-onset Steinert disease, Late-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22366,Active,Orphanet,ORPHA:589856,Disorder,[Malformation syndrome],Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,[KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome],,,,,,,,,, +GARD:22367,Active,Orphanet,ORPHA:589905,Disorder,[Disease],PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,[Chung-Jansen syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities.",,,,,,,,, +GARD:22368,Active,Orphanet,ORPHA:590539,Disorder,[Disease],Isolated melanotic schwannoma,[Isolated melanocytic schwannoma],A rare nervous system tumor characterized by cells phenotypically representing Schwann cells but containing melanosomes and expressing melanoma markers. The entity occurs as a non-psammomatous (typically affecting spinal nerves) or a psammomatous (also involving nerves of the intestinal tract and heart) variant. About 50% of psammomatous tumors are associated with Carney complex. Slightly over 10% of melanotic schwannomas follow a malignant course.,,,,,,,,, +GARD:22369,Active,Orphanet,ORPHA:592564,Disorder,[Disease],GNAO1-related developmental delay-seizures-movement disorder spectrum,[GNAO1-related spectrum],,,,,,,,,, +GARD:2237,Active,Orphanet,ORPHA:326,Disorder,[Disease],Congenital factor V deficiency,"[Owren disease, Parahemophilia, Proaccelerin deficiency]",Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.,[227400],,,,,Factor V deficiency,TRUE,FALSE,Active +GARD:22370,Active,Orphanet,ORPHA:592570,Disorder,[Malformation syndrome],TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.",,,,,,,,, +GARD:22371,Active,Orphanet,ORPHA:592574,Disorder,[Malformation syndrome],Menke-Hennekam syndrome,,,,,,,,,,, +GARD:22372,Active,Orphanet,ORPHA:592850,Subtype of disorder,[Clinical subtype],Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies,"[NMOSD with anti-AQP4 antibodies, Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies]",,,,,,,,,, +GARD:22373,Active,Orphanet,ORPHA:592856,Subtype of disorder,[Clinical subtype],Neuromyelitis optica spectrum disorder with anti-MOG antibodies,"[NMOSD with anti-MOG antibodies, Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies]",,,,,,,,,, +GARD:22374,Active,Orphanet,ORPHA:592869,Subtype of disorder,[Clinical subtype],Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies,"[NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies, Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies]",,,,,,,,,, +GARD:22375,Active,Orphanet,ORPHA:592873,Subtype of disorder,[Clinical subtype],Acute transverse myelitis with anti-MOG antibodies,[Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies],,,,,,,,,, +GARD:22376,Active,Orphanet,ORPHA:592885,Subtype of disorder,[Clinical subtype],Isolated optic neuritis without anti-MOG antibodies,[Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies],,,,,,,,,, +GARD:22377,Active,Orphanet,ORPHA:592888,Subtype of disorder,[Clinical subtype],Isolated optic neuritis with anti-MOG antibodies,[Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies],,,,,,,,,, +GARD:22378,Active,Orphanet,ORPHA:592894,Subtype of disorder,[Clinical subtype],Acute disseminated encephalomyelitis with anti-MOG antibodies,"[ADEM with anti-MOG antibodies, Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies]",,,,,,,,,, +GARD:22379,Active,Orphanet,ORPHA:592900,Subtype of disorder,[Clinical subtype],Acute disseminated encephalomyelitis without anti-MOG antibodies,[Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies],,,,,,,,,, +GARD:2238,Active,Orphanet,ORPHA:327,Disorder,[Disease],Congenital factor VII deficiency,"[Congenital proconvertin deficiency, Hypoproconvertinemia]","A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.",[227500],,,,,Factor VII deficiency,TRUE,FALSE,Active +GARD:22380,Active,Orphanet,ORPHA:595098,Subtype of disorder,[Clinical subtype],Timothy syndrome type 1,"[LQT8 type 1, TS1]",,,,,,,,,, +GARD:22381,Active,Orphanet,ORPHA:595105,Subtype of disorder,[Clinical subtype],Timothy syndrome type 2,"[LQT8 type 2, TS2]",,,,,,,,,, +GARD:22382,Active,Orphanet,ORPHA:595109,Subtype of disorder,[Clinical subtype],Atypical Timothy syndrome,"[ATS, Atypical LQT8]",,,,,,,,,, +GARD:22383,Active,Orphanet,ORPHA:595133,Disorder,[Disease],Perivascular epithelioid cell neoplasm,"[PEComa, Perivascular epithelioid tumour]","A rare soft tissue tumor characterized by distinctive perivascular epitheloid cells, often arranged radially around a vascular lumen, as well as spindled cells in variable proportion. Melanocytic and muscle markers are typically positive. The tumors have been reported in the uterus, falciform ligament, and large and small intestine, among others. Depending on their location, they may present as a painful or painless mass, or with vaginal bleeding. Tumors displaying infiltrative growth, marked hypercellularity, nuclear enlargement and hyperchromasia, high mitotic activity, atypical mitotic figures, and/or coagulative necrosis should be regarded as malignant.",,,,,,,,, +GARD:22384,Active,Orphanet,ORPHA:595216,Group of disorders,[Clinical group],Fibrous dysplasia/McCune-Albright syndrome,"[FD/MAS spectrum, FD/MAS syndrome, Fibrous dysplasia/McCune-Albright spectrum]",,,,,,,,,, +GARD:22385,Active,Orphanet,ORPHA:595337,Group of disorders,[Clinical group],Adrenal hypoplasia congenita,"[AHC, Congenital adrenal hypoplasia, Primary adrenal hypoplasia]",,,,,,,,,, +GARD:22386,Active,Orphanet,ORPHA:595346,Group of disorders,[Category],Epidermolysis bullosa simplex without extracutaneous involvement,[EBS without extracutaneous involvement],,,,,,,,,, +GARD:22387,Active,Orphanet,ORPHA:595351,Group of disorders,[Category],Epidermolysis bullosa simplex with extracutaneous involvement,[EBS with extracutaneous involvement],,,,,,,,,, +GARD:22388,Active,Orphanet,ORPHA:595356,Disorder,[Disease],Localized dystrophic epidermolysis bullosa,[Localized DEB],A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form).,,,,,,,,, +GARD:22389,Active,Orphanet,ORPHA:596008,Subtype of disorder,[Clinical subtype],Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis,,,,,,,,,,, +GARD:22390,Active,Orphanet,ORPHA:596426,Group of disorders,[Clinical group],Syndrome of reduced sensitivity to thyroid hormone,,,,,,,,,,, +GARD:22391,Active,Orphanet,ORPHA:596448,Disorder,[Disease],IgG4-related systemic disease,"[IgG4-RD, IgG4-related disease]",,,,,,,,,, +GARD:22392,Active,Orphanet,ORPHA:596759,Disorder,[Disease],Combined immunodeficiency due to RELA haploinsufficiency,[CID due to RELA haploinsufficiency],,,,,,,,,, +GARD:22393,Active,Orphanet,ORPHA:596937,Disorder,[Disease],Portosinusoidal vascular disease,[PSVD],,,,,,,,,, +GARD:22394,Active,Orphanet,ORPHA:596941,Subtype of disorder,[Histopathological subtype],Incomplete septal cirrhosis,[Incomplete septal fibrosis],"A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.",,,,,,,,, +GARD:22395,Active,Orphanet,ORPHA:597201,Disorder,[Disease],TRIM22-related inflammatory bowel disease,[TRIM22-related IBD],,,,,,,,,, +GARD:22396,Active,Orphanet,ORPHA:597623,Disorder,[Disease],IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome,,,,,,,,,,, +GARD:22397,Active,Orphanet,ORPHA:597743,Disorder,[Malformation syndrome],SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome,,,,,,,,,,, +GARD:22398,Active,Orphanet,ORPHA:597746,Disorder,[Malformation syndrome],Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome,,,,,,,,,,, +GARD:22399,Active,Orphanet,ORPHA:597749,Group of disorders,[Clinical group],KAT6B-related multiple congenital anomalies syndrome,[KAT6B-related disorder],,,,,,,,,, +GARD:224,Active,Orphanet,ORPHA:3015,Disorder,[Malformation syndrome],Radio-renal syndrome,,"Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.",[179280],,,,,Radio renal syndrome,TRUE,FALSE,Active +GARD:22400,Active,Orphanet,ORPHA:597887,Disorder,[Disease],ALPI-related inflammatory bowel disease,,,,,,,,,,, +GARD:22401,Active,Orphanet,ORPHA:597939,Disorder,[Disease],Euthyroid dysprealbuminemic hyperthyroxinemia,[Euthyroid dystransthyretinemic hyperthyroxinemia],,,,,,,,,, +GARD:22402,Active,Orphanet,ORPHA:598164,Subtype of disorder,[Clinical subtype],FOXG1 syndrome due to intragenic alteration,,,,,,,,,,, +GARD:22403,Active,Orphanet,ORPHA:598363,Disorder,[Disease],Multisystem inflammatory syndrome in children and adults,[MIS-C/A],,,,,,,,,, +GARD:22404,Active,Orphanet,ORPHA:599373,Disorder,[Disease],STXBP1-related encephalopathy,,"A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.",,,,,,,,, +GARD:22405,Active,Orphanet,ORPHA:599376,Disorder,[Disease],Hypomyelination of early myelinating structures,[HEMS],,,,,,,,,, +GARD:22406,Active,Orphanet,ORPHA:599418,Subtype of disorder,[Clinical subtype],Hereditary angioedema with normal C1Inh not related to F12 or PLG variant,,,,,,,,,,, +GARD:22407,Active,Orphanet,ORPHA:599485,Disorder,[Disease],Acquired hemophilia B,"[AHB, Acquired F9 deficiency, Acquired factor IX deficiency]",,,,,,,,,, +GARD:22408,Active,Orphanet,ORPHA:599490,Disorder,[Disease],Acquired factor V deficiency,,,,,,,,,,, +GARD:22409,Active,Orphanet,ORPHA:599495,Disorder,[Disease],Acquired factor VII deficiency,,,,,,,,,,, +GARD:2241,Legacy,GARD,,,,,,,,,,,,"Factor XI deficiency, congenital",TRUE,FALSE,Retired +GARD:22410,Active,Orphanet,ORPHA:599501,Disorder,[Disease],Acquired factor X deficiency,[aFX],,,,,,,,,, +GARD:22411,Active,Orphanet,ORPHA:599507,Disorder,[Disease],Acquired factor XI deficiency,[aFXI],,,,,,,,,, +GARD:22412,Active,Orphanet,ORPHA:599513,Disorder,[Disease],Acquired factor XIII deficiency,[aFXIII],,,,,,,,,, +GARD:22413,Active,Orphanet,ORPHA:599519,Disorder,[Disease],Factor V short isoforms-related bleeding disorder,[FV short isoforms-related bleeding disorder],,,,,,,,,, +GARD:22414,Active,Orphanet,ORPHA:599579,Subtype of disorder,[Etiological subtype],Factor V Amsterdam bleeding disorder,,,,,,,,,,, +GARD:22415,Active,Orphanet,ORPHA:600194,Subtype of disorder,[Etiological subtype],Factor V Atlanta bleeding disorder,,,,,,,,,,, +GARD:22416,Active,Orphanet,ORPHA:600663,Disorder,[Malformation syndrome],NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,,"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.",,,,,,,,, +GARD:22417,Active,Orphanet,ORPHA:600668,Disorder,[Disease],CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome,,,,,,,,,,, +GARD:22418,Active,Orphanet,ORPHA:600691,Disorder,[Disease],Combined deficiency of factor VII and factor X,,,,,,,,,,, +GARD:22419,Active,Orphanet,ORPHA:600832,Group of disorders,[Clinical group],Legionellosis,[Legionella infection],,,,,,,,,, +GARD:22420,Active,Orphanet,ORPHA:600952,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with perineal fistula,"[Non-syndromic ARM with cutaneous fistula, Non-syndromic ARM with perineal fistula, Non-syndromic anorectal malformation with cutaneous fistula]",,,,,,,,,, +GARD:22421,Active,Orphanet,ORPHA:600961,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectourethral fistula,[Non-syndromic ARM with rectourethral fistula],,,,,,,,,, +GARD:22422,Active,Orphanet,ORPHA:600966,Subtype of disorder,[Clinical subtype],"Non-syndromic anorectal malformation with rectourethral fistula, bulbar type","[Non-syndromic ARM with rectobulbar fistula, Non-syndromic ARM with rectourethral fistula, bulbar type, Non-syndromic anorectal malformation with rectobulbar fistula]",,,,,,,,,, +GARD:22423,Active,Orphanet,ORPHA:600975,Subtype of disorder,[Clinical subtype],"Non-syndromic anorectal malformation with rectourethral fistula, prostatic type","[Non-syndromic ARM with rectoprostatic fistula, Non-syndromic ARM with rectourethral fistula, prostatic type, Non-syndromic anorectal malformation with rectoprostatic fistula]",,,,,,,,,, +GARD:22424,Active,Orphanet,ORPHA:600984,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectovesical fistula,"[Non-syndromic ARM with bladder neck fistula, Non-syndromic ARM with rectovesical fistula, Non-syndromic anorectal malformation with bladder neck fistula]",,,,,,,,,, +GARD:22425,Active,Orphanet,ORPHA:600993,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with vestibular fistula,[Non-syndromic ARM with vestibular fistula],,,,,,,,,, +GARD:22426,Active,Orphanet,ORPHA:600998,Disorder,[Morphological anomaly],Non-syndromic cloacal malformation,,,,,,,,,,, +GARD:22427,Active,Orphanet,ORPHA:601002,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation without fistula,"[Non-syndromic ARM without fistula, Non-syndromic anorectal malformation with no fistula]",,,,,,,,,, +GARD:22428,Active,Orphanet,ORPHA:601008,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with anal stenosis,[Non-syndromic ARM with anal stenosis],,,,,,,,,, +GARD:22429,Active,Orphanet,ORPHA:601013,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with pouch colon,[Non-syndromic ARM with pouch colon],,,,,,,,,, +GARD:22430,Active,Orphanet,ORPHA:601018,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectal atresia,[Non-syndromic ARM with rectal atresia],,,,,,,,,, +GARD:22431,Active,Orphanet,ORPHA:601023,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectal stenosis,[Non-syndromic ARM with rectal stenosis],,,,,,,,,, +GARD:22432,Active,Orphanet,ORPHA:601028,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectovaginal fistula,[Non-syndromic ARM with rectovaginal fistula],,,,,,,,,, +GARD:22433,Active,Orphanet,ORPHA:601033,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with H-type fistula,[Non-syndromic ARM with H-type fistula],,,,,,,,,, +GARD:22434,Active,Orphanet,ORPHA:603515,Disorder,[Morphological anomaly],Isolated female hypospadias,,,,,,,,,,, +GARD:22435,Active,Orphanet,ORPHA:603684,Disorder,[Malformation syndrome],KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome,[PERCHING syndrome],,,,,,,,,, +GARD:22436,Active,Orphanet,ORPHA:603689,Disorder,[Malformation syndrome],KLHL7-related Bohring-Opitz-like syndrome,[KLHL7-related BOS-like syndrome],,,,,,,,,, +GARD:22437,Active,Orphanet,ORPHA:603694,Disorder,[Disease],KLHL7-related cold-induced sweating-like syndrome,[KLHL7-related Crisponi-like syndrome],,,,,,,,,, +GARD:22438,Active,Orphanet,ORPHA:603699,Group of disorders,[Clinical group],KLHL7-related disorder,,,,,,,,,,, +GARD:22439,Active,Orphanet,ORPHA:604680,Disorder,[Disease],Symptomatic form of X-linked centronuclear myopathy in female carriers,"[Symptomatic form of X-linked myotubular myopathy in female carriers, Symptomatic form of XLCNM in female carriers, Symptomatic form of XLMTM in female carriers]",,,,,,,,,, +GARD:22440,Active,Orphanet,ORPHA:611314,Group of disorders,[Category],Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:22441,Active,Orphanet,ORPHA:611327,Group of disorders,[Category],Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability,[Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism],,,,,,,,,, +GARD:22442,Active,Orphanet,ORPHA:615943,Disorder,[Disease],Granuloma faciale,"[Facial granuloma of Lever, Granuloma of Lever]",,,,,,,,,, +GARD:22443,Active,Orphanet,ORPHA:615970,Disorder,[Disease],Chronic intervillositis of unknown etiology,[CIUE],,,,,,,,,, +GARD:22444,Active,Orphanet,ORPHA:616874,Disorder,[Disease],Rare disorder without a determined diagnosis after full investigation,[Fully investigated rare disorder without a determined diagnosis],"A rare disorder for which all reasonable efforts have been done by rare diseases experts to determine a diagnosis according to the state of the art and available diagnostic capabilities, but did not enable to conclude on a clinically known concept. It is recommended to restrict the use of this entity for coding purposes to rare disease experts.",,,,,,,,, +GARD:22445,Active,Orphanet,ORPHA:617294,Disorder,[Disease],Twin anemia-polycythemia sequence,[TAPS],,,,,,,,,, +GARD:22446,Active,Orphanet,ORPHA:617297,Disorder,[Disease],Twin-reversed arterial perfusion sequence,[TRAP],,,,,,,,,, +GARD:22447,Active,Orphanet,ORPHA:617301,Disorder,[Disease],Selective intrauterine growth restriction,,,,,,,,,,, +GARD:22448,Active,Orphanet,ORPHA:617304,Disorder,[Disease],Amniotic fluid embolism,,,,,,,,,,, +GARD:22449,Active,Orphanet,ORPHA:617307,Group of disorders,[Category],Rare disorder related to monochorionic twin pregnancy,,,,,,,,,,, +GARD:2245,Active,Orphanet,ORPHA:3303,Disorder,[Malformation syndrome],Tetralogy of Fallot,,"Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.","[187500, 618780]",,,,,Tetralogy of Fallot,TRUE,FALSE,Active +GARD:22450,Active,Orphanet,ORPHA:617310,Group of disorders,[Category],Rare disorder due to unbalanced inter-twin blood transfusion,,,,,,,,,,, +GARD:22451,Active,Orphanet,ORPHA:617313,Group of disorders,[Category],Rare disorder due to inadequate sharing of the placenta,,,,,,,,,,, +GARD:22452,Active,Orphanet,ORPHA:617408,Disorder,[Disease],Classic eosinophilic pustular folliculitis,"[Classic EPF, Ofuji disease]",,,,,,,,,, +GARD:22453,Active,Orphanet,ORPHA:617449,Disorder,[Disease],Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome,,,,,,,,,,, +GARD:22454,Active,Orphanet,ORPHA:617919,Disorder,[Disease],F12-associated cold autoinflammatory syndrome,,,,,,,,,,, +GARD:22455,Active,Orphanet,ORPHA:617930,Subtype of disorder,[Clinical subtype],Hemophilia B Leyden,"[F9 deficiency, Leyden type, Factor IX deficiency, Leyden type]",,,,,,,,,, +GARD:22456,Active,Orphanet,ORPHA:618891,Disorder,[Disease],Chronic neurovisceral acid sphingomyelinase deficiency,"[Chronic neurovisceral ASMD, NPD-A/B, Niemann-Pick disease type A/B]",,,,,,,,,, +GARD:22457,Active,Orphanet,ORPHA:618899,Group of disorders,[Clinical group],Acid sphingomyelinase deficiency,[ASMD],,,,,,,,,, +GARD:22458,Active,Orphanet,ORPHA:619233,Disorder,[Disease],Hereditary persistence of fetal hemoglobin-intellectual disability syndrome,[Dias-Logan syndrome],,,,,,,,,, +GARD:22459,Active,Orphanet,ORPHA:619249,Group of disorders,[Category],Rare hereditary connective tissue disease,,,,,,,,,,, +GARD:22460,Active,Orphanet,ORPHA:619284,Group of disorders,[Clinical group],Narcolepsy,[Narcolepsy with or without cataplexy],,,,,,,,,, +GARD:22461,Active,Orphanet,ORPHA:619340,Group of disorders,[Category],Inherited hematologic cancer-predisposing syndrome,,,,,,,,,,, +GARD:22462,Active,Orphanet,ORPHA:619363,Disorder,[Disease],Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18,"[Neonatal-onset autoinflammation-cytopenia-facial dysmorphism syndrome, Neonatal-onset severe multisystemic autoinflammatory disease with increased interleukin 18]",,,,,,,,,, +GARD:22463,Active,Orphanet,ORPHA:619367,Disorder,[Disease],SAMD9L-associated autoinflammatory syndrome,[SAMD9L-SAAD],,,,,,,,,, +GARD:22464,Active,Orphanet,ORPHA:619941,Disorder,[Disease],Immune deficiency due to impaired neutrophil phagocytosis and migration,"[Immunodeficiency due to impaired neutrophil phagocytosis and migration, MKL1-related neutrophil motility defect]",,,,,,,,,, +GARD:22465,Active,Orphanet,ORPHA:619948,Disorder,[Disease],Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome,[SOCS1-related autoinflammatory syndrome],,,,,,,,,, +GARD:22466,Active,Orphanet,ORPHA:619953,Disorder,[Disease],Familial hyperinflammatory lymphoproliferative immunodeficiency,"[HEM1 deficiency syndrome, NCKAP1L-associated hyperinflammatory disorder]",,,,,,,,,, +GARD:22467,Active,Orphanet,ORPHA:619972,Disorder,[Disease],CADINS disease,[CARD11-associated atopy with dominant interference of NF-kB signaling syndrome],,,,,,,,,, +GARD:22468,Active,Orphanet,ORPHA:619979,Disorder,[Disease],Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,,,,,,,,,,, +GARD:22469,Active,Orphanet,ORPHA:620096,Group of disorders,[Clinical group],Non-syndromic unisutural craniosynostosis,"[Isolated unisutural craniosynostosis, Non-syndromic single suture synostosis]",,,,,,,,,, +GARD:22470,Active,Orphanet,ORPHA:620102,Disorder,[Morphological anomaly],Non-syndromic unicoronal craniosynostosis,"[Isolated frontal plagiocephaly, Isolated unicoronal craniosynostosis, Non-syndromic anterior synostotic plagiocephaly, Non-syndromic frontoparietal craniosynostosis, Non-syndromic hemicoronal craniosynostosis, Non-syndromic unilateral coronal synostosis]",,,,,,,,,, +GARD:22471,Active,Orphanet,ORPHA:620113,Disorder,[Morphological anomaly],Non-syndromic unilambdoid craniosynostosis,"[Isolated occipital plagiocephaly, Isolated unilamboid craniosynostosis, Non-syndromic posterior synostotic plagiocephaly, Non-syndromic unilateral lambdoid synostosis]",,,,,,,,,, +GARD:22472,Active,Orphanet,ORPHA:620139,Disorder,[Morphological anomaly],Non-syndromic unifrontosphenoidal craniosynostosis,"[Isolated unifrontosphenoidal craniosynostosis, Isolated unilateral sphenofrontal suture synostosis, Non-syndromic unilateral frontosphenoidal suture synostosis]",,,,,,,,,, +GARD:22473,Active,Orphanet,ORPHA:620146,Disorder,[Morphological anomaly],Non-syndromic unisquamosal craniosynostosis,"[Isolated unisquamosal craniosynostosis, Non-syndromic unilateral squamosal suture synostosis]",,,,,,,,,, +GARD:22474,Active,Orphanet,ORPHA:620152,Group of disorders,[Clinical group],Non-syndromic multisutural craniosynostosis,"[Isolated multisutural craniosynostosis, Non-syndromic multiple suture synostosis]",,,,,,,,,, +GARD:22475,Active,Orphanet,ORPHA:620158,Disorder,[Morphological anomaly],Non-syndromic non-specific multisutural craniosynostosis,"[Isolated non-specific multisutural craniosynostosis, Non-syndromic non-specific multiple suture synostosis]",,,,,,,,,, +GARD:22476,Active,Orphanet,ORPHA:620178,Disorder,[Morphological anomaly],Non-syndromic bilambdoid craniosynostosis,"[Isolated bilambdoid craniosynostosis, Isolated pachycephaly, Non-syndromic bilateral lambdoid synostosis]",,,,,,,,,, +GARD:22477,Active,Orphanet,ORPHA:620186,Disorder,[Morphological anomaly],Non-syndromic unicoronal and sagittal craniosynostosis,"[Isolated unicoronal and sagittal craniosynostosis, Non-syndromic unilateral coronal and sagittal suture synostosis]",,,,,,,,,, +GARD:22478,Active,Orphanet,ORPHA:620192,Disorder,[Morphological anomaly],Non-syndromic metopic and sagittal craniosynostosis,"[Isolated metopic and sagittal craniosynostosis, Non-syndromic metopic and sagittal suture synostosis]",,,,,,,,,, +GARD:22479,Active,Orphanet,ORPHA:620198,Disorder,[Morphological anomaly],Non-syndromic bicoronal and metopic craniosynostosis,"[Isolated bicoronal and metopic craniosynostosis, Non-syndromic bilateral coronal and metopic suture synostosis]",,,,,,,,,, +GARD:22480,Active,Orphanet,ORPHA:620205,Disorder,[Morphological anomaly],Non-syndromic bicoronal and sagittal craniosynostosis,"[Isolated bicoronal and sagittal craniosynostosis, Non-syndromic sagittal and bilateral coronal synostosis]",,,,,,,,,, +GARD:22481,Active,Orphanet,ORPHA:620212,Disorder,[Morphological anomaly],Non-syndromic pansynostosis,"[Isolated pansynostosis, Non-syndromic synostosis of all cranial vault sutures]",,,,,,,,,, +GARD:22482,Active,Orphanet,ORPHA:620217,Subtype of disorder,[Clinical subtype],Bartter syndrome type 1,[Bartter syndrome type I],,,,,,,,,, +GARD:22483,Active,Orphanet,ORPHA:620220,Subtype of disorder,[Clinical subtype],Bartter syndrome type 2,[Bartter syndrome type II],,,,,,,,,, +GARD:22484,Active,Orphanet,ORPHA:620363,Disorder,[Disease],Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,,,,,,,,,,, +GARD:22485,Active,Orphanet,ORPHA:620368,Disorder,[Disease],EGF-related primary hypomagnesemia with intellectual disability,,,,,,,,,,, +GARD:22486,Active,Orphanet,ORPHA:620371,Disorder,[Disease],Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,[Gitelman-like kidney tubulopathy due to mtDNA mutation],,,,,,,,,, +GARD:22487,Active,Orphanet,ORPHA:621758,Disorder,[Disease],Fibrosis-neurodegeneration-cerebral angiomatosis syndrome,"[FINCA, Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome]",,,,,,,,,, +GARD:22488,Active,Orphanet,ORPHA:622720,Group of disorders,[Category],Genetic autoinflammatory syndrome with skin involvement,,,,,,,,,,, +GARD:22489,Active,Orphanet,ORPHA:622914,Group of disorders,[Category],Rare genetic nevus,,,,,,,,,,, +GARD:2249,Active,Orphanet,ORPHA:91387,Disorder,[Disease],Familial thoracic aortic aneurysm and aortic dissection,"[Familial TAAD, Familial non-syndromic thoracic aortic aneurysm and aortic dissection]","Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.","[614816, 132900, 615582, 607086, 617168, 610168, 609192, 615436, 607087, 611788, 613780, 616166]",,,,,Familial thoracic aortic aneurysm and aortic dissection,TRUE,FALSE,Active +GARD:22490,Active,Orphanet,ORPHA:622925,Disorder,[Malformation syndrome],X-linked severe syndromic thoracic aortic aneurysm and dissection,"[Meester-Loeys syndrome, X-linked severe syndromic TAAD]",,,,,,,,,, +GARD:22491,Active,Orphanet,ORPHA:622934,Disorder,[Malformation syndrome],SBDS-related severe neonatal spondylometaphyseal dysplasia,"[SBDS-related severe neonatal SMD, Spondylometaphyseal dysplasia, Sedaghatian-like type]",,,,,,,,,, +GARD:22492,Active,Orphanet,ORPHA:623615,Disorder,[Disease],Autoimmune limbic encephalitis,[ALE],"A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.",,,,,,,,, +GARD:22493,Active,Orphanet,ORPHA:623626,Disorder,[Disease],Paraneoplastic cerebellar degeneration,"[PCD, Paraneoplastic cerebellar ataxia, Rapidely progressive cerebellar syndrome, Subacute cerebellar degeneration]",,,,,,,,,, +GARD:22494,Active,Orphanet,ORPHA:623638,Group of disorders,[Clinical group],Immune-mediated cerebellar ataxia,"[Autoimmune cerebellitis, IMCA]",,,,,,,,,, +GARD:22495,Active,Orphanet,ORPHA:623695,Disorder,[Malformation syndrome],MIR140-related spondyloepiphyseal dysplasia,"[MIR140-related SED, Spondyloepiphyseal dysplasia with severe brachydactyly and cone-shaped epiphyses]",,,,,,,,,, +GARD:22496,Active,Orphanet,ORPHA:623789,Disorder,[Disease],Body integrity dysphoria,"[BID, BIID, Body integrity identity disorder]",,,,,,,,,, +GARD:22497,Active,Orphanet,ORPHA:624166,Disorder,[Disease],Non-specific autoimmune supratentorial encephalitis with characteristic antibodies,[Non-specific supratentorial AE with characteristic antibodies],,,,,,,,,, +GARD:22498,Active,Orphanet,ORPHA:624178,Disorder,[Disease],Non-specific autoimmune supratentorial encephalitis without characteristic antibodies,[Non-specific supratentorial AE without characteristic antibodies],,,,,,,,,, +GARD:22499,Active,Orphanet,ORPHA:624190,Disorder,[Disease],Paraneoplastic isolated brainstem encephalitis,"[Paraneoplastic isolated rhombencephalitis, Paraneoplastic isolated rhomboencephalitis]",,,,,,,,,, +GARD:225,Active,Orphanet,ORPHA:93321,Disorder,[Morphological anomaly],Radial hemimelia,"[Congenital longitudinal deficiency of the radius, Radial clubhand, Radial longitidinal meromelia, Radial ray agenesis]",A rare congenital limb malformation characterized by partial or total absence of the radius.,,,,,,Radial ray agenesis,TRUE,FALSE,Active +GARD:2250,Active,Orphanet+OMIM,OMIM:600348,Subtype of disorder,[Morphological anomaly subtype],Band heterotopia,,,[600348],[99796],[Subcortical band heterotopia],[1904],,Familial band heterotopia,TRUE,FALSE,Active +GARD:22500,Active,Orphanet,ORPHA:624199,Disorder,[Disease],Non-specific autoimmune brainstem encephalitis with characteristic antibodies,"[Non-specific autoimmune rhombencephalitis with characteristic antibodies, Non-specific autoimmune rhomboencephalitis with characteristic antibodies]",,,,,,,,,, +GARD:22501,Active,Orphanet,ORPHA:624216,Disorder,[Disease],Non-specific autoimmune brainstem encephalitis without characteristic antibodies,"[Non-specific autoimmune rhombencephalitis without characteristic antibodies, Non-specific autoimmune rhomboencephalitis without characteristic antibodies]",,,,,,,,,, +GARD:22502,Active,Orphanet,ORPHA:624244,Disorder,[Disease],Postinfectious cerebellitis,"[ACA, APCA, Acute cerebellar ataxia, Acute postinfectious cerebellar ataxia, PIC, Para-infectious cerebellitis]",,,,,,,,,, +GARD:22503,Active,Orphanet,ORPHA:624259,Disorder,[Disease],Non-specific autoimmune cerebellar ataxia with characteristic antibodies,[Non-specific autoimmune CA with characteristic antibodies],,,,,,,,,, +GARD:22504,Active,Orphanet,ORPHA:624268,Disorder,[Disease],Non-specific autoimmune cerebellar ataxia without characteristic antibodies,"[Non-specific autoimmune CA without characteristic antibodies, PACA, Primary Autoimmune Cerebellar Ataxia]",,,,,,,,,, +GARD:22505,Active,Orphanet,ORPHA:52662,Group of disorders,[Category],Rare teratologic disease,[Acquired embryofetopathy],,,,,,,,,, +GARD:22506,Active,Orphanet,ORPHA:57146,Group of disorders,[Category],Rare hepatic disease,,,,,,,,,,, +GARD:22507,Active,Orphanet,ORPHA:68329,Group of disorders,[Category],Rare maxillo-facial surgical disease,[Rare maxillofacial anomaly],,,,,,,,,, +GARD:22508,Active,Orphanet,ORPHA:68367,Group of disorders,[Category],Rare inborn errors of metabolism,[Rare metabolic disease],,,,,,,,,, +GARD:22509,Active,Orphanet,ORPHA:68416,Group of disorders,[Category],Rare infectious disease,,,,,,,,,,, +GARD:2251,Legacy,GARD,,,,,,,,,,,,Familial hypertension,FALSE,FALSE,Active +GARD:22510,Active,Orphanet,ORPHA:89826,Group of disorders,[Category],Rare skin disease,,,,,,,,,,, +GARD:22511,Active,Orphanet,ORPHA:93419,Group of disorders,[Category],Rare bone disease,,,,,,,,,,, +GARD:22512,Active,Orphanet,ORPHA:93626,Group of disorders,[Category],Rare renal disease,,,,,,,,,,, +GARD:22513,Active,Orphanet,ORPHA:93890,Group of disorders,[Category],Rare developmental defect during embryogenesis,[Malformation syndrome],,,,,,,,,, +GARD:22514,Active,Orphanet,ORPHA:96344,Group of disorders,[Category],Rare gynecologic or obstetric disease,,,,,,,,,,, +GARD:22515,Active,Orphanet,ORPHA:97929,Group of disorders,[Category],Rare cardiac disease,,,,,,,,,,, +GARD:22516,Active,Orphanet,ORPHA:97935,Group of disorders,[Category],Rare gastroenterologic disease,,,,,,,,,,, +GARD:22517,Active,Orphanet,ORPHA:97955,Group of disorders,[Category],Rare respiratory disease,,,,,,,,,,, +GARD:22518,Active,Orphanet,ORPHA:97962,Group of disorders,[Category],Rare surgical thoracic disease,,,,,,,,,,, +GARD:22519,Active,Orphanet,ORPHA:97965,Group of disorders,[Category],Rare surgical cardiac disease,,,,,,,,,,, +GARD:2252,Active,Orphanet,ORPHA:467,Group of disorders,[Category],Non-acquired combined pituitary hormone deficiency,"[Congenital combined pituitary hormone deficiency, Congenital hypopituitarism]","Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.",,,,,,Congenital hypopituitarism,TRUE,FALSE,Active +GARD:22520,Active,Orphanet,ORPHA:97966,Group of disorders,[Category],Rare ophthalmic disorder,,,,,,,,,,, +GARD:22521,Active,Orphanet,ORPHA:97978,Group of disorders,[Category],Rare endocrine disease,,,,,,,,,,, +GARD:22522,Active,Orphanet,ORPHA:97992,Group of disorders,[Category],Rare hematologic disease,,,,,,,,,,, +GARD:22523,Active,Orphanet,ORPHA:98004,Group of disorders,[Category],Rare immune disease,,,,,,,,,,, +GARD:22524,Active,Orphanet,ORPHA:98006,Group of disorders,[Category],Rare neurologic disease,[Rare nervous system disease],,,,,,,,,, +GARD:22525,Active,Orphanet,ORPHA:98023,Group of disorders,[Category],Rare systemic or rheumatologic disease,,,,,,,,,,, +GARD:22526,Active,Orphanet,ORPHA:98026,Group of disorders,[Category],Rare odontologic disease,,,,,,,,,,, +GARD:22527,Active,Orphanet,ORPHA:98028,Group of disorders,[Category],Rare circulatory system disease,,,,,,,,,,, +GARD:22528,Active,Orphanet,ORPHA:98036,Group of disorders,[Category],Rare otorhinolaryngologic disease,,,,,,,,,,, +GARD:22529,Active,Orphanet,ORPHA:98047,Group of disorders,[Category],Rare infertility,,,,,,,,,,, +GARD:22530,Active,Orphanet,ORPHA:98050,Group of disorders,[Category],Rare allergic disease,[Rare allergy],,,,,,,,,, +GARD:22531,Active,Orphanet,ORPHA:98053,Group of disorders,[Category],Rare genetic disease,,,,,,,,,,, +GARD:22532,Active,Orphanet,ORPHA:101433,Group of disorders,[Category],Rare urogenital disease,,,,,,,,,,, +GARD:22533,Active,Orphanet,ORPHA:108999,Group of disorders,[Category],Rare disorder due to toxic effects,,,,,,,,,,, +GARD:22534,Active,Orphanet,ORPHA:165711,Group of disorders,[Category],Rare abdominal surgical disease,,,,,,,,,,, +GARD:22535,Active,Orphanet,ORPHA:250908,Group of disorders,[Category],Rare neoplastic disease,[Rare tumoral disease],,,,,,,,,, +GARD:22536,Active,Orphanet,ORPHA:565779,Group of disorders,[Category],Rare disorder potentially indicated for transplant or complication after transplantation,,,,,,,,,,, +GARD:22537,Active,Orphanet+OMIM,OMIM:249500,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 1","[Mental retardation, autosomal recessive 1]",,[249500],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22538,Active,Orphanet+OMIM,OMIM:607417,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 2","[mental retardation, autosomal recessive 2a, Mental retardation, autosomal recessive 2]",,[607417],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22539,Active,Orphanet+OMIM,OMIM:608443,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 3","[Mental retardation, autosomal recessive 3]",,[608443],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:2254,Active,Orphanet,ORPHA:922,Disorder,[Disease],Familial nasal acilia,,"Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.",,,,,,Familial nasal acilia,TRUE,FALSE,Active +GARD:22540,Active,Orphanet+OMIM,OMIM:611090,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 12",,,[611090],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22541,Active,Orphanet+OMIM,OMIM:611091,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 5","[Mental retardation, autosomal recessive 5]",,[611091],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22542,Active,Orphanet+OMIM,OMIM:611092,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 6","[Mental retardation, autosomal recessive 6]",,[611092],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22543,Active,Orphanet+OMIM,OMIM:611093,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 7","[mental retardation, autosomal recessive 22, Intellectual developmental disorder 22, mental retardation, autosomal recessive 7]",,[611093],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22544,Active,Orphanet+OMIM,OMIM:611095,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 9",,,[611095],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22545,Active,Orphanet+OMIM,OMIM:611096,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 10",,,[611096],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22546,Active,Orphanet+OMIM,OMIM:611097,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 11",,,[611097],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22547,Active,Orphanet+OMIM,OMIM:611107,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 4",,,[611107],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22548,Active,Orphanet+OMIM,OMIM:613192,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 13","[Mental retardation, autosomal recessive 13]",,[613192],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22549,Active,Orphanet+OMIM,OMIM:614020,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 14","[Mental retardation, autosomal recessive 14]",,[614020],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22550,Active,Orphanet+OMIM,OMIM:614202,Subtype of disorder,[Etiological subtype],Rafiq syndrome,"[Cdg2u, mental retardation, autosomal recessive 15, formerly]","Rafiq syndrome (RAFQS) is an autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern (summary by {1:Balasubramanian et al., 2019}).",[614202],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22551,Active,Orphanet+OMIM,OMIM:614208,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 16",,,[614208],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22552,Active,Orphanet+OMIM,OMIM:614249,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy","[Intellectual developmental disorder, autosomal recessive 18, mental retardation, autosomal recessive 18]","MRT18 is an autosomal recessive disorder characterized by impaired intellectual development with or without epilepsy. Other features may include spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography (summary by {6:Trehan et al., 2015}).",[614249],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22553,Active,Orphanet+OMIM,OMIM:614329,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 31",,,[614329],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22554,Active,Orphanet+OMIM,OMIM:614333,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 29",,,[614333],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22555,Active,Orphanet+OMIM,OMIM:614340,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 27","[Mental retardation, autosomal recessive 27]",,[614340],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22556,Active,Orphanet+OMIM,OMIM:614341,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 33",,,[614341],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22557,Active,Orphanet+OMIM,OMIM:614342,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 30",,,[614342],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22558,Active,Orphanet+OMIM,OMIM:614343,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 19",,,[614343],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22559,Active,Orphanet+OMIM,OMIM:614344,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 23",,,[614344],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:2256,Active,Orphanet,ORPHA:93337,Disorder,[Morphological anomaly],Polydactyly of an index finger,"[PPD3, Preaxial polydactyly type 3]","Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962.",[174600],,,,,Preaxial polydactyly type 3,TRUE,FALSE,Active +GARD:22560,Active,Orphanet+OMIM,OMIM:614345,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 24",,,[614345],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22561,Active,Orphanet+OMIM,OMIM:614346,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 25",,,[614346],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22562,Active,Orphanet+OMIM,OMIM:614347,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 28",,,[614347],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22563,Active,Orphanet+OMIM,OMIM:614499,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly","[Mental retardation, autosomal recessive 34, with variant lissencephaly]","MRT34 is an autosomal recessive neurologic disorder characterized by mildly to moderately impaired intellectual development and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by {1:Di Donato et al., 2016}).",[614499],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22564,Active,Orphanet+OMIM,OMIM:615802,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities","[mental retardation, autosomal recessive 42, Glycosylphosphatidylinositol biosynthesis defect 9]","Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities (NEDDSBA) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include nonspecific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment (summary by {1:Bosch et al., 2015}). {4:Novarino et al. (2014)} labeled the disorder 'spastic paraplegia-67' (SPG67). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[615802],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22565,Active,Orphanet+OMIM,OMIM:615817,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 43","[Mental retardation, autosomal recessive 43]","Autosomal recessive intellectual developmental disorder-43 (MRT43) is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features. Some patients may have significant motor delays (summary by {1:Gangfuss et al., 2022}).",[615817],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22566,Active,Orphanet+OMIM,OMIM:615942,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 44","[Mental retardation, autosomal recessive 44]",,[615942],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22567,Active,Orphanet+OMIM,OMIM:615979,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 45",,,[615979],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22568,Active,Orphanet+OMIM,OMIM:616116,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 46","[Mental retardation, autosomal recessive 46]",,[616116],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22569,Active,Orphanet+OMIM,OMIM:616193,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 47","[Mental retardation, autosomal recessive 47]",,[616193],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:2257,Active,Orphanet,ORPHA:101046,Disorder,[Disease],Autosomal dominant epilepsy with auditory features,"[ADEAF, ADLTE, ADPEAF, Autosomal dominant lateral temporal lobe epilepsy, Partial epilepsy with auditory aura, Partial epilepsy with auditory features]","A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.","[600512, 616461, 616436]",,,,,Autosomal dominant partial epilepsy with auditory features,TRUE,FALSE,Active +GARD:22570,Active,Orphanet+OMIM,OMIM:616460,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 50","[Mental retardation, autosomal recessive 50]",,[616460],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22571,Active,Orphanet+OMIM,OMIM:616739,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 51","[Mental retardation, autosomal recessive 51]",,[616739],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22572,Active,Orphanet+OMIM,OMIM:616887,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 52","[Mental retardation, autosomal recessive 52]",,[616887],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22573,Active,Orphanet+OMIM,OMIM:617028,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 54","[Mental retardation, autosomal recessive 54]",,[617028],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22574,Active,Orphanet+OMIM,OMIM:617125,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 56","[Mental retardation, autosomal recessive 56]",,[617125],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22575,Active,Orphanet+OMIM,OMIM:617188,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 57",,,[617188],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22576,Active,Orphanet+OMIM,OMIM:617709,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with microcephaly, ataxia, and seizures",,"Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) is an autosomal recessive disorder characterized by developmental delay, deafness, cardiomyopathy, epilepsy, and severe febrile decompensations (summary by {2:Ravel et al., 2021}).",[617709],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22577,Active,Orphanet+OMIM,OMIM:617816,Subtype of disorder,[Etiological subtype],Glycosylphosphatidylinositol biosynthesis defect 16,"[Mental retardation, autosomal recessive 62]",,[617816],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22578,Active,Orphanet+OMIM,OMIM:618109,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 65","[Mental retardation, autosomal recessive 65]",,[618109],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22579,Active,Orphanet+OMIM,OMIM:618221,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 66","[Mental retardation, autosomal recessive 66]","MRT66 is a nonsyndromic autosomal recessive intellectual developmental disorder with delayed speech development, neuropsychiatric symptoms, and relatively normal life span ({2:Philips et al., 2017}).",[618221],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:2258,Active,Orphanet,ORPHA:99810,Subtype of disorder,[Etiological subtype],Familial porencephaly,,,"[175780, 614483]",,,,,Familial porencephaly,TRUE,FALSE,Active +GARD:22580,Active,Orphanet+OMIM,OMIM:618402,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 70","[Mental retardation, autosomal recessive 70]","MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients ({1:Maddirevula et al., 2018}; {2:Perez et al., 2018}).",[618402],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22581,Active,Orphanet+OMIM,OMIM:618687,Subtype of disorder,[Etiological subtype],Intellectual developmental disorder with short stature and behavioral abnormalities,,,[618687],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22582,Active,Orphanet+OMIM,OMIM:600060,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 2",[Neurosensory nonsyndromic recessive deafness 2],,[600060],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22583,Active,Orphanet+OMIM,OMIM:600316,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 3",[Neurosensory nonsyndromic recessive deafness 3],,[600316],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22584,Active,Orphanet+OMIM,OMIM:600791,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct","[Neurosensory nonsyndromic recessive deafness 4, dilated vestibular aqueduct]","DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing loss, which may be fluctuating or progressive. The hearing loss is associated with temporal bone abnormalities, most commonly enlargement of the vestibular aqueduct, but it can also include the more severe Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns (summary by {8:Campbell et al., 2001} and {21:Pryor et al., 2005}). Enlarged vestibular aqueduct is the most common form of inner ear abnormality and can be associated with disequilibrium symptoms in a minority of patients ({25:Valvassori, 1983}; {15:Jackler and de la Cruz, 1989}; {16:Levenson et al., 1989}; {4:Arcand et al., 1991}; {7:Belenky et al., 1993}; {18:Okumura et al., 1995}).",[600791],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22585,Active,Orphanet+OMIM,OMIM:600792,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 5",,,[600792],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22586,Active,Orphanet+OMIM,OMIM:600971,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 6",[Neurosensory nonsyndromic recessive deafness 6],,[600971],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22587,Active,Orphanet+OMIM,OMIM:600974,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 7","[Deafness, autosomal recessive 11]",,[600974],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22588,Active,Orphanet+OMIM,OMIM:601071,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 9",[Neurosensory nonsyndromic recessive deafness 9],,[601071],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22589,Active,Orphanet+OMIM,OMIM:601072,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 8","[deafness, childhood-onset neurosensory, autosomal recessive 8, Deafness, autosomal recessive 10, neurosensory nonsyndromic recessive deafness 8]",,[601072],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:2259,Active,Orphanet,ORPHA:2456,Disorder,[Morphological anomaly],Familial supernumerary nipples,[Isolated polythelia],"Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.",[163700],,,,,Supernumerary nipple,FALSE,FALSE,Active +GARD:22590,Active,Orphanet+OMIM,OMIM:601386,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 12",,,[601386],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22591,Active,Orphanet+OMIM,OMIM:601869,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 15","[Deafness, autosomal recessive 72, deafness, autosomal recessive 95]","This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset (summary by {3:Charizopoulou et al., 2011}).",[601869],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22592,Active,Orphanet+OMIM,OMIM:602092,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 18a","[Deafness, autosomal recessive 18]",,[602092],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22593,Active,Orphanet+OMIM,OMIM:603010,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 17",,,[603010],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22594,Active,Orphanet+OMIM,OMIM:603098,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 13",,,[603098],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22595,Active,Orphanet+OMIM,OMIM:603629,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 21",,,[603629],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22596,Active,Orphanet+OMIM,OMIM:603678,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 14",,,[603678],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22597,Active,Orphanet+OMIM,OMIM:603720,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 16",,,[603720],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22598,Active,Orphanet+OMIM,OMIM:604060,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 20",,,[604060],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22599,Active,Orphanet+OMIM,OMIM:605428,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 26",,"DFNB26 is characterized by prelingual severe to profound nonsyndromic hearing loss ({3:Yousaf et al., 2018}).",[605428],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:226,Active,Orphanet,ORPHA:769,Disorder,[Malformation syndrome],Rabson-Mendenhall syndrome,,"A rare syndrome that belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).",[262190],,,,,Rabson-Mendenhall syndrome,TRUE,FALSE,Active +GARD:22600,Active,Orphanet+OMIM,OMIM:605818,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 27",,"By use of autozygosity mapping in a large consanguineous family from the United Arab Emirates, {1:Pulleyn et al. (2000)} identified a locus for autosomal recessive nonsyndromic, prelingual, sensorineural hearing impairment, designated DFNB27, on chromosome 2q23-q31. An ancestral haplotype was shared by all 7 affected members, with a 17-cM minimum critical region between markers D2S2157 and D2S2273 and a maximum 2-point lod score of 5.18 at theta = 0.0 for marker D2S2257. The DFNB27 critical region overlapped with the critical region to which another deafness locus, DFNA16 ({603964}), had been mapped in a family with fluctuating, progressive autosomal dominant nonsyndromic hearing loss. The authors noted that several sodium-channel alpha-subunit genes map to the critical region and are candidate genes for both DFNA16 and DFNB27.",[605818],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22601,Active,Orphanet+OMIM,OMIM:607039,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 22",,,[607039],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22602,Active,Orphanet+OMIM,OMIM:607084,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 31","[Whirler, mouse, homolog of]",,[607084],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22603,Active,Orphanet+OMIM,OMIM:607101,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 30",,,[607101],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22604,Active,Orphanet+OMIM,OMIM:607239,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 33",,,[607239],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22605,Active,Orphanet+OMIM,OMIM:607821,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 37",,,[607821],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22606,Active,Orphanet+OMIM,OMIM:608219,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 38",,,[608219],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22607,Active,Orphanet+OMIM,OMIM:608264,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 40",,,[608264],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22608,Active,Orphanet+OMIM,OMIM:608265,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 39",,,[608265],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22609,Active,Orphanet+OMIM,OMIM:608565,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 35",,,[608565],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22610,Active,Orphanet+OMIM,OMIM:608653,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 32, with or without immotile sperm","[deafness, autosomal recessive 105, formerly, Hearing impairment infertile male syndrome]","DFNB32 is characterized by prelingual progressive moderate to profound sensorineural deafness. Some affected men are infertile, and semen analysis has shown high percentages of immotile sperm with abnormal morphology ({2:Imtiaz et al., 2018}).",[608653],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22611,Active,Orphanet+OMIM,OMIM:609006,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 36, with or without vestibular involvement",,,[609006],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22612,Active,Orphanet+OMIM,OMIM:609439,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 48",,"DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by {3:Riazuddin et al., 2012}).",[609439],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22613,Active,Orphanet+OMIM,OMIM:609533,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 23",,,[609533],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22614,Active,Orphanet+OMIM,OMIM:609646,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 42",,,[609646],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22615,Active,Orphanet+OMIM,OMIM:609647,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 46",,,[609647],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22616,Active,Orphanet+OMIM,OMIM:609706,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 53",,,[609706],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22617,Active,Orphanet+OMIM,OMIM:609823,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 28",,,[609823],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22618,Active,Orphanet+OMIM,OMIM:610143,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 62",,,[610143],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22619,Active,Orphanet+OMIM,OMIM:610153,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 49",,"Autosomal recessive deafness-49 (DFNB49) is characterized by prelingual profound sensorineural hearing loss at all frequencies ({3:Riazuddin et al., 2006} and {1:Chishti et al., 2008}).",[610153],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22620,Active,Orphanet+OMIM,OMIM:610154,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 44",,,[610154],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22621,Active,Orphanet+OMIM,OMIM:610212,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 66",,,[610212],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22622,Active,Orphanet+OMIM,OMIM:610220,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 59",,,[610220],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22623,Active,Orphanet+OMIM,OMIM:610248,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 65",,,[610248],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22624,Active,Orphanet+OMIM,OMIM:610265,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 67",,,[610265],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22625,Active,Orphanet+OMIM,OMIM:610419,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 68",,,[610419],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22626,Active,Orphanet+OMIM,OMIM:611022,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 24",,,[611022],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22627,Active,Orphanet+OMIM,OMIM:611451,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 63",,,[611451],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22628,Active,Orphanet+OMIM,OMIM:612433,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 45",,,[612433],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22629,Active,Orphanet+OMIM,OMIM:612645,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 1b",,,[612645],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:2263,Legacy,GARD,,,,,,,,,,,,Familial ventricular tachycardia,TRUE,FALSE,Active +GARD:22630,Active,Orphanet+OMIM,OMIM:612789,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 71",,,[612789],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22631,Active,Orphanet+OMIM,OMIM:613079,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 77",,,[613079],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22632,Active,Orphanet+OMIM,OMIM:613285,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 25",,,[613285],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22633,Active,Orphanet+OMIM,OMIM:613307,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 79",,,[613307],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22634,Active,Orphanet+OMIM,OMIM:613391,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 84a","[deafness, autosomal recessive 84a, with vestibular dysfunction, Deafness, autosomal recessive 84]",,[613391],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22635,Active,Orphanet+OMIM,OMIM:613392,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 85",,,[613392],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22636,Active,Orphanet+OMIM,OMIM:613453,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 91",,,[613453],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22637,Active,Orphanet+OMIM,OMIM:613685,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 83",,,[613685],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22638,Active,Orphanet+OMIM,OMIM:613718,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 74",,,[613718],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22639,Active,Orphanet+OMIM,OMIM:613865,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 61",,,[613865],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22640,Active,Orphanet+OMIM,OMIM:613916,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 89",,,[613916],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22641,Active,Orphanet+OMIM,OMIM:614035,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 29",,,[614035],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22642,Active,Orphanet+OMIM,OMIM:614414,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 96",,"Autosomal recessive deafness-96 (DFNB96) is a form of nonsyndromic sensorineural severe to profound hearing impairment with prelingual onset (summary by {1:Ansar et al., 2011}).",[614414],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22643,Active,Orphanet+OMIM,OMIM:614617,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 86",,,[614617],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22644,Active,Orphanet+OMIM,OMIM:614861,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 98",,"This form of autosomal recessive nonsyndromic deafness is sensorineural and shows prelingual onset ({1:Delmaghani et al., 2012}).",[614861],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22645,Active,Orphanet+OMIM,OMIM:614899,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 93",,"Autosomal recessive deafness-93 is characterized by moderate to severe prelingual deafness and a distinctive U-shaped audiogram ({2:Tabatabaiefar et al., 2011}).",[614899],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22646,Active,Orphanet+OMIM,OMIM:614934,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 70",,,[614934],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22647,Active,Orphanet+OMIM,OMIM:614944,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 84b",,,[614944],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22648,Active,Orphanet+OMIM,OMIM:614945,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 18b",,,[614945],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22649,Active,Orphanet+OMIM,OMIM:615429,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 88",,,[615429],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22650,Active,Orphanet+OMIM,OMIM:615540,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 76",,,[615540],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22651,Active,Orphanet+OMIM,OMIM:615837,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 101",,,[615837],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22652,Active,Orphanet+OMIM,OMIM:615974,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 102",,,[615974],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22653,Active,Orphanet+OMIM,OMIM:616042,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 103",,,[616042],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22654,Active,Orphanet+OMIM,OMIM:616515,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 104",,,[616515],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22655,Active,Orphanet+OMIM,OMIM:616705,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 97",,,[616705],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22656,Active,Orphanet+OMIM,OMIM:617637,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 106",,,[617637],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22657,Active,Orphanet+OMIM,OMIM:617639,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 107",,,[617639],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22658,Active,Orphanet+OMIM,OMIM:617654,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 108",,,[617654],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22659,Active,Orphanet+OMIM,OMIM:618145,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 111",,"DFNB111 is characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement ({2:Wesdorp et al., 2018}; {1:Bademci et al., 2018}).",[618145],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22660,Active,Orphanet+OMIM,OMIM:618422,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 100",,"DFNB100 is characterized by prelingual onset of profound sensorineural deafness without vestibular involvement ({2:Yousaf et al., 2018}).",[618422],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22661,Active,Orphanet+OMIM,OMIM:618434,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 94",,"DFNB94 is characterized by prelingual profound sensorineural hearing loss ({1:Simon et al., 2015}).",[618434],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22662,Active,Orphanet+OMIM,OMIM:618456,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 114",,"DFNB114 is characterized by congenital profound sensorineural hearing loss ({1:Li et al., 2019}).",[618456],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22663,Active,Orphanet+OMIM,OMIM:618481,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 99",,"DFNB99 is characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction ({1:Cheng et al., 2003}).",[618481],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22664,Active,Orphanet+OMIM,OMIM:619093,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 116",,"Autosomal recessive deafness-116 (DFNB116) is characterized by slowly progressive moderate to profound sensorineural hearing loss (SNHL), with a steeply sloping audiogram in the high frequencies in younger patients ({1:Sineni et al., 2019}).",[619093],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22665,Active,Orphanet+OMIM,OMIM:619174,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 117",,"Autosomal recessive deafness-117 (DFNB117) is characterized by nonsyndromic bilateral moderate-to-profound sensorineural deafness, with onset in early childhood ({1:Vona et al., 2021}).",[619174],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22666,Active,Orphanet+OMIM,OMIM:300046,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 23",,,[300046],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22667,Active,Orphanet+OMIM,OMIM:300047,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 20",,"Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Impaired intellectual development that is not associated with other distinguishing features is referred to as 'nonspecific.'\n\nThe Human Gene Mapping Nomenclature Committee ({2:Mulley et al., 1992}) proposed to designate each newly reported apparently unique X-linked mental retardation (MRX) family with gene symbols (e.g., MRX1, MRX2) if a minimal lod score of 2.0 was demonstrated between the MR locus and one or more X chromosome markers.",[300047],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22668,Active,Orphanet+OMIM,OMIM:300115,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 50","[Mental retardation, x-linked 50]",,[300115],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22669,Active,Orphanet+OMIM,OMIM:300143,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 21","[mental retardation, x-linked 34, Mental retardation, x-linked 21]","X-linked intellectual developmental disorder-21 (XLID21) is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderately impaired intellectual development to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by {11:Piton et al., 2008}).",[300143],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22670,Active,Orphanet+OMIM,OMIM:300210,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 58","[Mental retardation, x-linked 58]",,[300210],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22671,Active,Orphanet+OMIM,OMIM:300271,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 72","[Mental retardation, x-linked 72]",,[300271],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22672,Active,Orphanet+OMIM,OMIM:300324,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 53",,,[300324],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22673,Active,Orphanet+OMIM,OMIM:300355,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 73",,,[300355],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22674,Active,Orphanet+OMIM,OMIM:300372,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 42",,,[300372],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22675,Active,Orphanet+OMIM,OMIM:300428,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 2",,,[300428],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22676,Active,Orphanet+OMIM,OMIM:300433,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 81",,,[300433],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22677,Active,Orphanet+OMIM,OMIM:300436,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 46",,,[300436],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22678,Active,Orphanet+OMIM,OMIM:300454,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 77",,,[300454],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22679,Active,Orphanet+OMIM,OMIM:300498,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 45",,,[300498],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:2268,Active,Orphanet,ORPHA:2088,Disorder,[Disease],Fanconi-Bickel syndrome,"[GSD due to GLUT2 deficiency, Glycogen storage disease due to GLUT2 deficiency, Glycogenosis due to GLUT2 deficiency]","A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.",[227810],,,,,Fanconi Bickel syndrome,TRUE,FALSE,Active +GARD:22680,Active,Orphanet+OMIM,OMIM:300505,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 84",,,[300505],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22681,Active,Orphanet+OMIM,OMIM:300518,Subtype of disorder,[Etiological subtype],"Mental retardation, x-linked 82",,,[300518],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22682,Active,Orphanet+OMIM,OMIM:300558,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 30","[Mental retardation, x-linked 30, mental retardation, x-linked 47]",,[300558],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22683,Active,Orphanet+OMIM,OMIM:300705,Subtype of disorder,[Etiological subtype],Chromosome xp11.22 duplication syndrome,,,[300705],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22684,Active,Orphanet+OMIM,OMIM:300716,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 95",,,[300716],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22685,Active,Orphanet+OMIM,OMIM:300802,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 96","[Mental retardation, x-linked 96]",,[300802],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22686,Active,Orphanet+OMIM,OMIM:300803,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 97","[mental retardation, x-linked 65, Mental retardation, x-linked 97, mrxz]",,[300803],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22687,Active,Orphanet+OMIM,OMIM:300844,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 19","[Mental retardation, x-linked 19]","X-linked intellectual development disorder-19 (XLID19) is characterized by mildly to moderately impaired intellectual development. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS; {303600}), a syndrome with impaired intellectual deveopment, dysmorphic facial features, and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with impaired intellectual development and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by {3:Field et al., 2006}).",[300844],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22688,Active,Orphanet+OMIM,OMIM:300848,Subtype of disorder,[Etiological subtype],"Mental retardation, x-linked 89",,,[300848],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22689,Active,Orphanet+OMIM,OMIM:300849,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 41","[Mental retardation, x-linked 41, mental retardation, x-linked 48]",,[300849],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:2269,Legacy,GARD,,,,,,,,,,,,Fanconi ichthyosis dysmorphism,TRUE,FALSE,Retired +GARD:22690,Active,Orphanet+OMIM,OMIM:300850,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 90","[Mental retardation, x-linked 90]",,[300850],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22691,Active,Orphanet+OMIM,OMIM:300851,Subtype of disorder,[Etiological subtype],"Mental retardation, x-linked 92",,,[300851],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22692,Active,Orphanet+OMIM,OMIM:300852,Subtype of disorder,[Etiological subtype],"Mental retardation, x-linked 88",,,[300852],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22693,Active,Orphanet+OMIM,OMIM:300919,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 99","[Mental retardation, x-linked 99]",,[300919],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22694,Active,Orphanet+OMIM,OMIM:300928,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 101","[Mental retardation, x-linked 101]",,[300928],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22695,Active,Orphanet+OMIM,OMIM:300978,Subtype of disorder,[Etiological subtype],Tonne-kalscheuer syndrome,"[mental retardation, x-linked 61, Intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia]","Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities (summary by {1:Frints et al., 2019}).\n\nAlso see Fryns syndrome ({229850}), an autosomal recessive disorder with overlapping features.",[300978],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22696,Active,Orphanet+OMIM,OMIM:300983,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 104","[Mental retardation, x-linked 104]",,[300983],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22697,Active,Orphanet+OMIM,OMIM:300984,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 105","[Mental retardation, x-linked 105]",,[300984],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22698,Active,Orphanet+OMIM,OMIM:301013,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 107","[Mental retardation, x-linked 107]",,[301013],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22699,Active,Orphanet+OMIM,OMIM:309530,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 1","[mrx, mental retardation, x-linked 18, Mental retardation, x-linked 1, mental retardation, x-linked 78]",,[309530],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:2270,Legacy,GARD,,,,,,,,,,,,Fanconi like syndrome,TRUE,FALSE,Retired +GARD:22700,Active,Orphanet+OMIM,OMIM:309549,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 9","[mental retardation, x-linked 44, Mental retardation, x-linked 9]",,[309549],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:2273,Legacy,GARD,,,,,,,,,,,,Fara Chlupackova syndrome,TRUE,FALSE,Active +GARD:2276,Active,Orphanet,ORPHA:2064,Disorder,[Malformation syndrome],Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,[Faulk-Epstein-Jones syndrome],A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.,[192800],,,,,Faulk Epstein Jones syndrome,TRUE,FALSE,Retired +GARD:2277,Legacy,GARD,,,,,,,,,,,,Faye-Petersen-Ward-Carey syndrome,TRUE,FALSE,Active +GARD:2279,Active,Orphanet,ORPHA:1192,Disorder,[Malformation syndrome],Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,"[Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome, Feigenbaum-Bergeron-Richardson syndrome]","A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.",[209010],,,,,Feigenbaum Bergeron Richardson syndrome,TRUE,FALSE,Active +GARD:228,Legacy,GARD,,,,,,,,,,,,Resistance to LH (luteinizing hormone),TRUE,FALSE,Retired +GARD:2280,Legacy,GARD,,,,,,,,,,,,Feigenbaum Bergeron syndrome,TRUE,FALSE,Active +GARD:2282,Legacy,GARD,,,,,,,,,,,,Feingold Trainer syndrome,TRUE,FALSE,Active +GARD:2285,Active,Orphanet,ORPHA:1986,Disorder,[Malformation syndrome],Gollop-Wolfgang complex,[Bifid femur-monodactylous ectrodactyly syndrome],"A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.",[228250],,,,,Femur bifid with monodactylous ectrodactyly,TRUE,FALSE,Active +GARD:2286,Active,Orphanet,ORPHA:2019,Disorder,[Malformation syndrome],Femur-fibula-ulna complex,"[FFU complex, Femur-fibula-ulna dysostosis, Femur-fibula-ulna syndrome, PFFD]","A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.",[228200],,,,,Femur fibula ulna syndrome,TRUE,FALSE,Active +GARD:2287,Active,Orphanet,ORPHA:1184,Disorder,[Malformation syndrome],Ataxia-photosensitivity-short stature syndrome,[Fenton-Wilkinson-Toselano syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.",,,,,,Fenton Wilkinson Toselano syndrome,TRUE,FALSE,Active +GARD:229,Active,Orphanet,ORPHA:1532,Disorder,[Malformation syndrome],Gómez-López-Hernández syndrome,"[Cerebellotrigeminal-dermal dysplasia syndrome, Craniosynostosis-alopecia-brain defect syndrome]","Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.",[601853],,,,,Gomez Lopez Hernandez syndrome,TRUE,FALSE,Active +GARD:2293,Active,Orphanet+OMIM,OMIM:300073,Subtype of disorder,[Malformation syndrome subtype],"Fetal akinesia syndrome, x-linked",,"{2:Holmes et al. (1997)} reported male sibs with a possibly X-linked form of fetal akinesia syndrome. One sib died at 11 weeks of age and other sib was stillborn. In both, the pregnancies were characterized by polyhydramnios and hypokinesia. Both had brain malformations (absence of corpus callosum in one; arhinencephaly in the other), telecanthus, and narrow palpebral fissures. (See holoprosencephaly with fetal akinesia/hypokinesia sequence ({306990}).) Only affected male sibs were described in several reports: {5:Mease et al. (1976)}, {4:MacMillan et al. (1985)}, {3:Lammer et al. (1989)}, {1:Gyr et al. (1992)}. This led {2:Holmes et al. (1997)} to suggest that there is an X-linked form of fetal akinesia syndrome(s). Also see fetal akinesia deformation sequence ({208150}).",[300073],[994],[Fetal akinesia deformation sequence],[9634],,Fetal akinesia syndrome X-linked,TRUE,FALSE,Active +GARD:2294,Active,Orphanet,ORPHA:1908,Disorder,[Malformation syndrome],Aminopterin/methotrexate embryofetopathy,"[Aminopterin embryopathy syndrome, Fetal aminopterin syndrome]","A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.",,,,,,Fetal aminopterin syndrome,TRUE,FALSE,Active +GARD:2295,Active,Orphanet,ORPHA:853,Disorder,[Disease],Fetal and neonatal alloimmune thrombocytopenia,"[FNAIT, NAIT]","A rare hematological disease characterized by maternal alloimmunisation against fetal platelet antigens that are inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopenia in otherwise healthy newborns.",,,,,,Fetal and neonatal alloimmune thrombocytopenia,TRUE,FALSE,Active +GARD:2296,Legacy,GARD,,,,,,,,,,,,Fetal antihypertensive drugs syndrome,TRUE,FALSE,Retired +GARD:2297,Legacy,GARD,,,,,,,,,,,,Fetal brain disruption sequence,TRUE,FALSE,Active +GARD:23,Active,Orphanet,ORPHA:126,Disorder,[Malformation syndrome],Blepharophimosis-ptosis-epicanthus inversus syndrome,[BPES],"A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).",[110100],,,,,Blepharophimosis-epicanthus inversus-ptosis syndrome,TRUE,FALSE,Retired +GARD:230,Active,Orphanet,ORPHA:2533,Disorder,[Malformation syndrome],Microcephaly-deafness-intellectual disability syndrome,"[Kawashima-Tsuji syndrome, Microcephaly-hearing loss-intellectual disability syndrome]","Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.",[156620],,,,,Microcephaly deafness syndrome,TRUE,FALSE,Active +GARD:2300,Legacy,GARD,,,,,,,,,,,,Fetal diethylstilbestrol syndrome,TRUE,FALSE,Retired +GARD:2301,Legacy,GARD,,,,,,,,,,,,Fetal edema,TRUE,FALSE,Retired +GARD:2302,Legacy,GARD,,,,,,,,,,,,Fetal enterovirus syndrome,TRUE,FALSE,Active +GARD:2303,Active,Orphanet,ORPHA:1909,Disorder,[Malformation syndrome],Indomethacin embryofetopathy,[Fetal indomethacin syndrome],"Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.",,,,,,Fetal indomethacin syndrome,FALSE,FALSE,Retired +GARD:2304,Active,Orphanet,ORPHA:1910,Disorder,[Malformation syndrome],Fetal iodine syndrome,,"Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).",[228355],,,,,Fetal iodine syndrome,TRUE,FALSE,Active +GARD:2305,Active,Orphanet,ORPHA:1055,Disorder,[Malformation syndrome],Congenital left ventricular aneurysm,,"A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of described aneurysms range from 0.5 cm in diameter up to a size of 8x9 cm. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death.",,,,,,Fetal left ventricular aneurysm,TRUE,FALSE,Active +GARD:2306,Legacy,GARD,,,,,,,,,,,,Fetal methimazole syndrome,FALSE,FALSE,Retired +GARD:2307,Legacy,GARD,,,,,,,,,,,,Fetal methyl mercury syndrome,FALSE,FALSE,Retired +GARD:2308,Active,Orphanet,ORPHA:1918,Disorder,[Malformation syndrome],Fetal minoxidil syndrome,[Minoxidil antenatal infection],"Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence) (see these terms), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.",,,,,,Fetal minoxidil syndrome,TRUE,FALSE,Active +GARD:2309,Legacy,GARD,,,,,,,,,,,,Fetal parainfluenza virus type 3 syndrome,TRUE,FALSE,Active +GARD:231,Active,Orphanet,ORPHA:135,Disorder,[Disease],CACH syndrome,"[Childhood ataxia with diffuse central nervous system hypomyelination, Leukoencephalopathy with vanishing white matter, Myelinosis centralis diffusa]","A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.","[603896, 615889]",,,,,Leukoencephalopathy with vanishing white matter,TRUE,FALSE,Active +GARD:2310,Legacy,GARD,,,,,,,,,,,,Fetal parvovirus syndrome,TRUE,FALSE,Active +GARD:2311,Legacy,GARD,,,,,,,,,,,,Fetal phenothiazine syndrome,TRUE,FALSE,Active +GARD:2313,Active,Orphanet,ORPHA:3312,Disorder,[Malformation syndrome],Thalidomide embryopathy,[Fetal thalidomide syndrome],"Thalidomide embryopathy is a group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.",,,,,,Fetal thalidomide syndrome,TRUE,FALSE,Active +GARD:2315,Legacy,GARD,,,,,,,,,,,,Fetal warfarin syndrome,TRUE,FALSE,Retired +GARD:2317,Active,Orphanet,ORPHA:93932,Disorder,[Disease],FG syndrome type 1,[Opitz-Kaveggia syndrome],"A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others.",[305450],,,,,FG syndrome,TRUE,FALSE,Active +GARD:232,Active,Orphanet,ORPHA:1309,Disorder,[Morphological anomaly],Medullary sponge kidney,"[Cacchi-Ricci disease, MSK, Precalicial canalicular ectasia]","A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions.",,,,,,Medullary sponge kidney,TRUE,FALSE,Active +GARD:2320,Active,Orphanet,ORPHA:335,Disorder,[Disease],Congenital fibrinogen deficiency,,Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) (see these terms) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia (see this term) corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).,"[616004, 202400]",,,,,"Fibrinogen deficiency, congenital",TRUE,FALSE,Active +GARD:2321,Active,Orphanet,ORPHA:2021,Disorder,[Disease],Fibrochondrogenesis,,"Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.","[228520, 614524]",,,,,Fibrochondrogenesis,TRUE,FALSE,Active +GARD:2322,Active,Orphanet,ORPHA:122,Disorder,[Malformation syndrome],Birt-Hogg-Dubé syndrome,"[Fibrofolliculomas with trichodiscomas and acrochordons, Hornstein-Knickenberg syndrome]","A rare inherited cancer-predisposing syndrome characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax.",[135150],,,,,Birt-Hogg-Dube syndrome,TRUE,FALSE,Active +GARD:2324,Active,Orphanet,ORPHA:2026,Disorder,[Malformation syndrome],Gingival fibromatosis-hypertrichosis syndrome,"[CGHT, Congenital generalized hypertrichosis terminalis, Hirsutism-congenital gingival hyperplasia syndrome, Hypertrichosis with or without gingival hyperplasia]","A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.",[135400],,,,,Gingival fibromatosis with hypertrichosis,TRUE,FALSE,Active +GARD:2326,Legacy,GARD,,,,,,,,,,,,Fibromuscular dysplasia,FALSE,FALSE,Active +GARD:2327,Active,Orphanet,ORPHA:2030,Disorder,[Disease],Fibrosarcoma,,,,,,,,Fibrosarcoma,TRUE,FALSE,Active +GARD:2329,Legacy,GARD,,,,,,,,,,,,Fibula aplasia complex brachydactyly,TRUE,FALSE,Retired +GARD:233,Legacy,GARD,,,,,,,,,,,,D ercole syndrome,TRUE,FALSE,Active +GARD:2331,Active,Orphanet,ORPHA:1118,Disorder,[Malformation syndrome],Fibular aplasia-ectrodactyly syndrome,,"A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.",[113310],,,,,Fibular aplasia ectrodactyly,TRUE,FALSE,Active +GARD:2333,Legacy,GARD,,,,,,,,,,,,Fibular hypoplasia scapulo pelvic dysplasia absent,TRUE,FALSE,Active +GARD:2336,Active,Orphanet,ORPHA:1658,Disorder,[Disease],Absence of fingerprints-congenital milia syndrome,"[Absence of dermatoglyphics-congenital milia syndrome, Baird syndrome, Basan-Baird syndrome]","A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.",[129200],,,,,Absence of fingerprints congenital milia,TRUE,FALSE,Active +GARD:2339,Active,Orphanet,ORPHA:85448,Disorder,[Disease],AGel amyloidosis,"[Familial amyloid polyneuropathy type IV, Familial amyloidosis, Finnish type, Gelsolin amyloidosis, Hereditary amyloidosis, Finnish type]","A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.",[105120],,,,,"Familial amyloidosis, Finnish type",TRUE,FALSE,Active +GARD:234,Active,Orphanet,ORPHA:941,Disorder,[Disease],D-glyceric aciduria,"[D-glycerate kinase deficiency, D-glyceric acidemia]","A rare inborn error of metabolism characterized by abnormal urinary excretion of D-glyceric acid due to D-glycerate kinase deficiency. Reported manifestations are highly variable and include a severe encephalopathic picture, chronic metabolic acidosis, developmental delay, intellectual disability, microcephaly, seizures, behavioral abnormalities, as well as only mild speech delay and apparently normal development.",[220120],,,,,D-glycericacidemia,TRUE,FALSE,Active +GARD:2342,Active,Orphanet,ORPHA:2820,Disorder,[Clinical syndrome],Spastic paraplegia-nephritis-deafness syndrome,"[Fitzsimmons-Walson-Mellor syndrome, Spastic paraplegia-nephritis-hearing loss syndrome]","Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.",[182690],,,,,Fitzsimmons Walson Mellor syndrome,TRUE,FALSE,Active +GARD:2343,Legacy,GARD,,,,,,,,,,,,Fitzsimmons-Guilbert syndrome,TRUE,FALSE,Active +GARD:2344,Active,Orphanet,ORPHA:2824,Disorder,[Malformation syndrome],Paraplegia-intellectual disability-hyperkeratosis syndrome,[Fitzsimmons-McLachlan-Gilbert syndrome],"A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.",[309560],,,,,Fitzsimmons syndrome,TRUE,FALSE,Active +GARD:2346,Active,Orphanet,ORPHA:2045,Disorder,[Disease],FLOTCH syndrome,[Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome],"FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.",,,,,,FLOTCH syndrome,TRUE,FALSE,Active +GARD:2347,Active,Orphanet,ORPHA:2047,Disorder,[Disease],Flynn-Aird syndrome,,"A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein.",[136300],,,,,Flynn Aird syndrome,TRUE,FALSE,Active +GARD:2349,Legacy,GARD,,,,,,,,,,,,Focal alopecia congenital megalencephaly,TRUE,FALSE,Active +GARD:2350,Legacy,GARD,,,,,,,,,,,,Focal or multifocal malformations in neuronal migration,TRUE,FALSE,Active +GARD:2351,Active,Orphanet,ORPHA:2048,Disorder,[Malformation syndrome],Foix-Chavany-Marie syndrome,"[Bilateral anterior opercular syndrome, Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation, Facio-pharyngo-glosso-masticatory diplegia]","A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.",,,,,,Foix Chavany Marie syndrome,TRUE,FALSE,Active +GARD:2354,Legacy,GARD,,,,,,,,,,,,Basaloid follicular hamartoma,TRUE,FALSE,Active +GARD:2355,Legacy,GARD,,,,,,,,,,,,"Ichthyosis, follicular",TRUE,FALSE,Active +GARD:2356,Active,Orphanet,ORPHA:545,Disorder,[Disease],Follicular lymphoma,,Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.,[613024],,,,,Follicular lymphoma,TRUE,FALSE,Active +GARD:2357,Legacy,GARD,,,,,,,,,,,,Follicular lymphoreticuloma,TRUE,FALSE,Active +GARD:2358,Legacy,GARD,,,,,,,,,,,,Fontaine Farriaux Blanckaert syndrome,TRUE,FALSE,Active +GARD:236,Active,Orphanet,ORPHA:2186,Disorder,[Malformation syndrome],Hydrocephalus-blue sclerae-nephropathy syndrome,[Daentl-Townsend-Siegel syndrome],"A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.",,,,,,Daentl Towsend Siegel syndrome,TRUE,FALSE,Active +GARD:2361,Legacy,GARD,,,,,,,,,,,,Formaldehyde poisoning,TRUE,FALSE,Active +GARD:2362,Active,Orphanet,ORPHA:3238,Disorder,[Malformation syndrome],Cardiospondylocarpofacial syndrome,"[Forney syndrome, Forney-Robinson-Pascoe syndrome, Mitral regurgitation-deafness-skeletal anomalies syndrome, Mitral regurgitation-hearing loss-skeletal anomalies syndrome]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.",[157800],,,,,"Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones",TRUE,FALSE,Active +GARD:2365,Active,Orphanet,ORPHA:2795,Disorder,[Disease],Fowler urethral sphincter dysfunction syndrome,"[Fowler syndrome, Fowler-Christmas-Chapple syndrome]","A rare urogenital disease characterized by otherwise unexplained chronic urinary retention of more than 1 liter of sterile urine on catheterization, an asensitive bladder with loss of urge to void, and no help of straining. Poor tolerance of self-catheterization is typically reported. The condition occurs in women between menarche and menopause.",,,,,,Fowler's syndrome,TRUE,FALSE,Active +GARD:2366,Legacy,GARD,,,,,,,,,,,,Fragile X syndrome type 1,TRUE,FALSE,Active +GARD:2367,Legacy,GARD,,,,,,,,,,,,Fragile X syndrome type 2,TRUE,FALSE,Active +GARD:2368,Legacy,GARD,,,,,,,,,,,,Fragile X syndrome type 3,TRUE,FALSE,Active +GARD:237,Active,Orphanet,ORPHA:1563,Disorder,[Malformation syndrome],Dahlberg-Borer-Newcomer syndrome,"[Dahlberg syndrome, Lymphedema-hypoparathyroidism syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. There have been no further descriptions in the literature since 1993.",[247410],,,,,Dahlberg Borer Newcomer syndrome,TRUE,FALSE,Active +GARD:2371,Legacy,GARD,,,,,,,,,,,,Franceschini Vardeu Guala syndrome,TRUE,FALSE,Active +GARD:2372,Legacy,GARD,,,,,,,,,,,,Franek Bocker kahlen syndrome,TRUE,FALSE,Retired +GARD:2373,Legacy,GARD,,,,,,,,,,,,Fraser Jequier Chen syndrome,TRUE,FALSE,Active +GARD:2374,Legacy,GARD,,,,,,,,,,,,Fraser like syndrome,TRUE,FALSE,Retired +GARD:2375,Active,Orphanet,ORPHA:347,Disorder,[Disease],Frasier syndrome,,"A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma.",[136680],,,,,Frasier syndrome,TRUE,FALSE,Active +GARD:2377,Legacy,GARD,,,,,,,,,,,,FRAXD,TRUE,FALSE,Active +GARD:2378,Active,Orphanet,ORPHA:100973,Disorder,[Disease],FRAXE intellectual disability,[Intellectual disability associated with fragile site FRAXE],"A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.",[309548],,,,,Fragile XE syndrome,TRUE,FALSE,Active +GARD:238,Active,Orphanet,ORPHA:2724,Disorder,[Malformation syndrome],Odontomatosis-aortae esophagus stenosis syndrome,[Boder syndrome],"Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.",[164330],,,,,Odontoma dysphagia syndrome,TRUE,FALSE,Active +GARD:2380,Active,Orphanet,ORPHA:564003,Disorder,[Disease],Osteochondrosis of the metatarsal bone,"[Avascular necrosis of the metatarsal bone, Freiberg disease, Freiberg infraction]","A rare bone disease characterized by avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal. Patients may present with pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. The condition can be bilateral in some cases and shows a significant predilection for females in the second or third decade of life.",,,,,,Freiberg's disease,TRUE,FALSE,Active +GARD:2381,Active,Orphanet,ORPHA:2723,Disorder,[Malformation syndrome],Odontotrichomelic syndrome,[Freire-Maia syndrome],"A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970.",[273400],,,,,Odontotrichomelic syndrome,TRUE,FALSE,Active +GARD:2383,Legacy,GARD,,,,,,,,,,,,Frenkel Russe syndrome,TRUE,FALSE,Active +GARD:2384,Active,Orphanet,ORPHA:264200,Disorder,[Malformation syndrome],14q22q23 microdeletion syndrome,"[14q22-q23 microdeletion syndrome, Del(14)(q22q23), Monosomy 14q22-q23, Monosomy 14q22q23]","14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.",[609640],,,,,Frias syndrome,TRUE,FALSE,Active +GARD:2386,Legacy,GARD,,,,,,,,,,,,Friedel Heid Grosshans syndrome,TRUE,FALSE,Retired +GARD:2387,Legacy,GARD,,,,,,,,,,,,Friedman Goodman syndrome,TRUE,FALSE,Retired +GARD:2388,Legacy,GARD,,,,,,,,,,,,Friedreich ataxia congenital glaucoma,TRUE,FALSE,Retired +GARD:2389,Legacy,GARD,,,,,,,,,,,,Fronto nasal malformation cloacal exstrophy,TRUE,FALSE,Active +GARD:239,Active,Orphanet,ORPHA:3132,Disorder,[Malformation syndrome],Say-Barber-Miller syndrome,[Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome],"Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.",[251240],,,,,Say Barber Miller syndrome,TRUE,FALSE,Active +GARD:2390,Active,Orphanet,ORPHA:1791,Disorder,[Malformation syndrome],Frontofacionasal dysplasia,[Gollop syndrome],"A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).",[229400],,,,,Frontofacionasal dysplasia,TRUE,FALSE,Active +GARD:2392,Active,Orphanet,ORPHA:250,Group of disorders,[Clinical group],Frontonasal dysplasia,[Median cleft face syndrome],"A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.",,,,,,Frontonasal dysplasia,TRUE,FALSE,Active +GARD:2393,Legacy,GARD,,,,,,,,,,,,Frontonasal dysplasia acromelic,TRUE,FALSE,Active +GARD:2394,Legacy,GARD,,,,,,,,,,,,Frontonasal dysplasia Klippel Feil syndrome,TRUE,FALSE,Active +GARD:2395,Legacy,GARD,,,,,,,,,,,,Frontonasal dysplasia phocomelic upper limbs,TRUE,FALSE,Active +GARD:2397,Active,Orphanet,ORPHA:2141,Disorder,[Malformation syndrome],Diaphragmatic defect-limb deficiency-skull defect syndrome,[Froster-Huch syndrome],"Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.",[601163],,,,,Froster-Huch syndrome,TRUE,FALSE,Active +GARD:2399,Legacy,GARD,,,,,,,,,,,,Acquired fructose intolerance,FALSE,FALSE,Retired +GARD:240,Legacy,GARD,,,,,,,,,,,,Say Carpenter syndrome,TRUE,FALSE,Active +GARD:2400,Active,Orphanet,ORPHA:348,Disorder,[Disease],"Fructose-1,6-bisphosphatase deficiency","[FBPase deficiency, Fructose-1,6-diphosphatase deficiency]","Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.",[229700],,,,,"Fructose-1,6-bisphosphatase deficiency",TRUE,FALSE,Active +GARD:2407,Legacy,GARD,,,,,,,,,,,,Fryns Fabry Remans syndrome,TRUE,FALSE,Active +GARD:2408,Active,Orphanet,ORPHA:2497,Disorder,[Malformation syndrome],Upper limb mesomelic dysplasia,"[Fryns-Hofkens-Fabry syndrome, Ulna hypoplasia]","This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.",[191440],,,,,Fryns Hofkens Fabry syndrome,TRUE,FALSE,Active +GARD:2409,Active,Orphanet,ORPHA:2058,Disorder,[Malformation syndrome],Fryns-Smeets-Thiry syndrome,,"A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and sever intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further description in the literature since 1994.",,,,,,Fryns smeets thiry syndrome,TRUE,FALSE,Active +GARD:241,Active,Orphanet,ORPHA:1003,Disorder,[Malformation syndrome],Scalp defects-postaxial polydactyly syndrome,,"A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985.",[181250],,,,,Scalp defects postaxial polydactyly,TRUE,FALSE,Active +GARD:2410,Active,Orphanet,ORPHA:2854,Disorder,[Malformation syndrome],Fuhrmann syndrome,"[Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome, Fuhrmann-Rieger-de Sousa syndrome]","Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.",[228930],,,,,Fuhrmann syndrome,TRUE,FALSE,Active +GARD:2411,Legacy,GARD,,,,,,,,,,,,Fukuda Miyanomae Nakata syndrome,TRUE,FALSE,Active +GARD:2414,Legacy,GARD,,,,,,,,,,,,Functioning pancreatic endocrine tumor,TRUE,FALSE,Active +GARD:2415,Legacy,GARD,,,,,,,,,,,,Fuqua Berkovitz syndrome,TRUE,FALSE,Active +GARD:2417,Active,Orphanet,ORPHA:2579,Disorder,[Disease],Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,[Furukawa-Takagi-Nakao syndrome],"A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.",[158500],,,,,Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus,TRUE,FALSE,Active +GARD:2418,Active,Orphanet,ORPHA:591,Disorder,[Disease],Furuncular myiasis,"[Furunculoid myiasis, Furunculous myiasis]",Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).,,,,,,Furunculous myiasis,TRUE,FALSE,Active +GARD:2419,Active,Orphanet,ORPHA:2287,Disorder,[Morphological anomaly],Fused mandibular incisors,,"Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure.",[147251],,,,,Fused mandibular incisors,TRUE,FALSE,Active +GARD:242,Legacy,GARD,,,,,,,,,,,,Say-Field-Coldwell syndrome,TRUE,FALSE,Active +GARD:2422,Active,Orphanet,ORPHA:79237,Disorder,[Disease],Galactokinase deficiency,"[GALK deficiency, GALK-D, Galactokinase deficiency galactosemia, Galactosemia type 2]","A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.",[230200],,,,,Galactokinase deficiency,TRUE,FALSE,Active +GARD:2424,Active,Orphanet,ORPHA:352,Group of disorders,[Category],Galactosemia,,"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms).","[230200, 230400, 230350]",,,,,Galactosemia,TRUE,FALSE,Active +GARD:2427,Active,Orphanet,ORPHA:3035,Disorder,[Malformation syndrome],Growth delay-hydrocephaly-lung hypoplasia syndrome,[Game-Friedman-Paradice syndrome],"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.",[236640],,,,,Game Friedman Paradice syndrome,TRUE,FALSE,Active +GARD:2428,Active,Orphanet,ORPHA:212,Disorder,[Disease],Cystathioninuria,"[Cystathionase deficiency, Cystathionine gamma-lyase deficiency syndrome, Gamma-cystathionase deficiency]",A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.,[219500],,,,,Gamma-cystathionase deficiency,TRUE,FALSE,Active +GARD:2429,Active,Orphanet,ORPHA:353,Disorder,[Disease],Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5,"[Autosomal recessive limb-girdle muscular dystrophy type 2C, Gamma-sarcoglycan-related LGMD R5, Gamma-sarcoglycanopathy, LGMD due to gamma-sarcoglycan deficiency, LGMD type 2C, LGMD2C, Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency, Limb-girdle muscular dystrophy type 2C]","A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.",[253700],,,,,"Limb-girdle muscular dystrophy, type 2C",TRUE,FALSE,Active +GARD:243,Active,Orphanet,ORPHA:3369,Disorder,[Malformation syndrome],Trigonocephaly-short stature-developmental delay syndrome,[Say-Meyer syndrome],"A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures.",[314320],,,,,Say Meyer syndrome,TRUE,FALSE,Active +GARD:2430,Active,Orphanet,ORPHA:251949,Disorder,[Disease],Ganglioglioma,,"Ganglioglioma is a rare, usually benign, well-circumscribed, often cystic, mixed neuronal-glial tumor (composed of both neoplastic glial and ganglionic elements) which is typically located in the temporal lobe and rarely invades the surrounding tissue. Patients usually present with seizures refractory to medical treatment. Association with neurofibromatosis type I and tuberous sclerosis has been reported.",,,,,,Ganglioglioma,TRUE,FALSE,Active +GARD:2431,Active,Orphanet,ORPHA:79257,Subtype of disorder,[Clinical subtype],GM1 gangliosidosis type 3,[Adult-onset GM1 gangliosidosis],"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.",[230650],,,,,GM1 gangliosidosis type 3,TRUE,FALSE,Active +GARD:2432,Active,Orphanet,ORPHA:1018,Subtype of disorder,[Clinical subtype],X-linked Alport syndrome-diffuse leiomyomatosis,[Xq22.3 microdeletion syndrome],"A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.","[150700, 308940]",,,,,"Leiomyomatosis, esophageal and vulval, with nephropathy",TRUE,FALSE,Active +GARD:2433,Legacy,GARD,,,,,,,,,,,,Gardner Morrison Abbot syndrome,TRUE,FALSE,Retired +GARD:2435,Legacy,GARD,,,,,,,,,,,,Garret Tripp syndrome,TRUE,FALSE,Active +GARD:2436,Active,Orphanet,ORPHA:2494,Disorder,[Disease],Ménétrier disease,"[Giant hypertrophic gastritis, Hypoproteinemic hypertrophic gastropathy]","Ménétrier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.",[137280],,,,,Menetrier disease,TRUE,FALSE,Active +GARD:2437,Active,Orphanet,ORPHA:100092,Group of disorders,[Category],Gastroenteropancreatic neuroendocrine neoplasm,[GEP-NEN],,,,,,,Gastro-enteropancreatic neuroendocrine tumor,TRUE,FALSE,Active +GARD:2438,Active,Orphanet,ORPHA:2069,Disorder,[Disease],Gastrocutaneous syndrome,,"A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.",[137270],,,,,Gastrocutaneous syndrome,TRUE,FALSE,Active +GARD:2441,Active,Orphanet,ORPHA:77259,Subtype of disorder,[Clinical subtype],Gaucher disease type 1,[Non-cerebral juvenile Gaucher disease],"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.",[230800],,,,,Gaucher disease type 1,TRUE,FALSE,Active +GARD:2442,Active,Orphanet,ORPHA:77260,Subtype of disorder,[Clinical subtype],Gaucher disease type 2,"[Acute neuronopathic Gaucher disease, Infantile cerebral Gaucher disease]","Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.",[230900],,,,,Gaucher disease type 2,TRUE,FALSE,Active +GARD:2443,Active,Orphanet,ORPHA:77261,Subtype of disorder,[Clinical subtype],Gaucher disease type 3,"[Cerebral juvenile and adult form of Gaucher disease, Chronic neuronopathic Gaucher disease, Gaucher disease, subacute neuronopathic type]","Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).",[231000],,,,,Gaucher disease type 3,TRUE,FALSE,Active +GARD:2444,Legacy,GARD,,,,,,,,,,,,Gaucher ichthyosis restrictive dermopathy,TRUE,FALSE,Active +GARD:2445,Legacy,GARD,,,,,,,,,,,,Gaucher-like disease,TRUE,FALSE,Retired +GARD:2446,Legacy,GARD,,,,,,,,,,,,Gay Feinmesser Cohen syndrome,TRUE,FALSE,Active +GARD:2447,Legacy,GARD,,,,,,,,,,,,Green Sandford Davison syndrome,TRUE,FALSE,Active +GARD:2448,Legacy,GARD,,,,,,,,,,,,Gelatinous ascites,TRUE,FALSE,Retired +GARD:2449,Active,Orphanet,ORPHA:2623,Disorder,[Malformation syndrome],Geleophysic dysplasia,[Geleophysic dwarfism],"A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').","[614185, 231050, 617809]",,,,,Geleophysic dwarfism,TRUE,FALSE,Active +GARD:2451,Active,Orphanet,ORPHA:2074,Disorder,[Malformation syndrome],Gemignani syndrome,"[Spinocerebellar ataxia-amyotrophy-deafness syndrome, Spinocerebellar ataxia-amyotrophy-hearing loss syndrome]","Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.",,,,,,Gemignani syndrome,TRUE,FALSE,Active +GARD:2452,Active,Orphanet,ORPHA:2084,Disorder,[Malformation syndrome],Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,[GEMSS syndrome],"Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).",[608328],,,,,"Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome",TRUE,FALSE,Active +GARD:2454,Active,Orphanet,ORPHA:2163,Disorder,[Malformation syndrome],Holoprosencephaly-craniosynostosis syndrome,"[Camero-Lituania-Cohen syndrome, Genoa syndrome]","Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.",[601370],,,,,Genoa syndrome,TRUE,FALSE,Active +GARD:2455,Legacy,GARD,,,,,,,,,,,,Genetic reflex epilepsy,TRUE,FALSE,Active +GARD:2456,Active,Orphanet+OMIM,OMIM:607948,Subtype of disorder,[Disease subtype],"Mycobacterium tuberculosis, susceptibility to",,"Mycobacterium tuberculosis latently infects approximately one-third of humanity and is comparable only to human immunodeficiency virus (HIV; see {609423}) as a leading infectious cause of mortality worldwide. Obstacles for controlling TB infection include lengthy treatment regimens of 6 to 9 months, drug resistance, lack of a highly efficacious vaccine, and incomplete understanding of the factors that control infectivity and disease progression. Although only 10% of individuals infected with M. tuberculosis develop active disease, the immune responses associated with TB susceptibility or resistance are not known. In addition, it is not known why some individuals have disseminated TB that spreads to the meninges and central nervous system, while most people have localized disease in the lungs. A number of studies suggest that host genetic factors influence susceptibility and resistance to TB (review by {9:Berrington and Hawn, 2007}).",[607948],[3389],[Tuberculosis],[7827],,"Mycobacterium tuberculosis, susceptibility to infection by",TRUE,FALSE,Retired +GARD:2458,Legacy,GARD,,,,,,,,,,,,Genital dwarfism,TRUE,FALSE,Active +GARD:2459,Legacy,GARD,,,,,,,,,,,,"Genital dwarfism, Turner type",TRUE,FALSE,Active +GARD:246,Active,Orphanet,ORPHA:63862,Disorder,[Malformation syndrome],Schisis association,,"Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These anomalies are associated at a higher frequency than would be expected with random combination rates.",,,,,,Schisis association,TRUE,FALSE,Active +GARD:2460,Active,Orphanet,ORPHA:2075,Disorder,[Malformation syndrome],Genitopalatocardiac syndrome,[Gardner-Silengo-Wachtel syndrome],"Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.",[231060],,,,,Genito palato cardiac syndrome,TRUE,FALSE,Active +GARD:2462,Active,Orphanet,ORPHA:2077,Disorder,[Malformation syndrome],German syndrome,[Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome],"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.",[231080],,,,,German syndrome,TRUE,FALSE,Retired +GARD:2464,Legacy,GARD,,,,,,,,,,,,Gershinibaruch Leibo syndrome,TRUE,FALSE,Active +GARD:2467,Legacy,GARD,,,,,,,,,,,,Ghose Sachdev Kumar syndrome,TRUE,FALSE,Active +GARD:2468,Legacy,GARD,,,,,,,,,,,,Giant ganglionic hyperplasia,TRUE,FALSE,Retired +GARD:2469,Active,Orphanet,ORPHA:626,Disorder,[Disease],Large congenital melanocytic nevus,"[Congenital pigmented nevus, GMN, Giant congenital melanocytic nevus, Giant pigmented hairy nevus, LCMN]","A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.",[137550],,,,,Giant congenital nevus,TRUE,FALSE,Active +GARD:247,Active,Orphanet,ORPHA:3134,Disorder,[Malformation syndrome],SCARF syndrome,,"A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and anbnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptsosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on.",[312830],,,,,SCARF syndrome,TRUE,FALSE,Active +GARD:2470,Active,Orphanet,ORPHA:274,Disorder,[Disease],Bernard-Soulier syndrome,"[Giant platelet syndrome, Hemorrhagiparous thrombocytic dystrophy]","A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.","[153670, 231200]",,,,,Giant platelet syndrome,TRUE,FALSE,Active +GARD:2471,Legacy,GARD,,,,,,,,,,,,Gigantism advanced bone age hoarse cry,TRUE,FALSE,Active +GARD:2474,Active,Orphanet+OMIM,OMIM:605544,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 2",,"Hereditary gingival fibromatosis is a benign disorder manifested by a slowly progressive enlargement of the oral gingival tissues (summary by {1:Xiao et al., 2001}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF ({135300}).",[605544],[2024],[Hereditary gingival fibromatosis],[16582],,"Gingival fibromatosis, 2",TRUE,FALSE,Active +GARD:2475,Active,Orphanet+OMIM,OMIM:611010,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 4",,"Hereditary gingival fibromatosis is a benign disorder manifested by a slowly progressive overgrowth of the oral gingival tissues, which results in the teeth being partially or totally engulfed by keratinized gingiva (summary by {1:Zhu et al., 2007}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF1 ({135300}).",[611010],[2024],[Hereditary gingival fibromatosis],[16582],,"Gingival fibromatosis, 4",TRUE,FALSE,Active +GARD:2478,Active,Orphanet,ORPHA:849,Disorder,[Disease],Glanzmann thrombasthenia,,Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.,"[619267, 273800]",,,,,Glanzmann thrombasthenia,TRUE,FALSE,Active +GARD:2479,Legacy,GARD,,,,,,,,,,,,Glass-Chapman-Hockley syndrome,TRUE,FALSE,Retired +GARD:248,Active,Orphanet,ORPHA:1383,Disorder,[Malformation syndrome],Cataract-deafness-hypogonadism syndrome,"[Cataract-hearing loss-hypogonadism syndrome, Schaap-Taylor-Baraitser syndrome]","Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.",,,,,,Schaap Taylor Baraitser syndrome,TRUE,FALSE,Active +GARD:2482,Legacy,GARD,,,,,,,,,,,,Glaucoma iridogoniodysgenesia,TRUE,FALSE,Active +GARD:2483,Active,Orphanet,ORPHA:2085,Disorder,[Disease],Glaucoma-sleep apnea syndrome,,Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).,[137763],,,,,Glaucoma sleep apnea,TRUE,FALSE,Active +GARD:2484,Legacy,GARD,,,,,,,,,,,,Glaucoma type 1C,TRUE,FALSE,Active +GARD:2485,Active,Orphanet,ORPHA:98976,Disorder,[Disease],Congenital glaucoma,"[Buphthalmia, Buphthalmos, Buphthalmus, Primary congenital glaucoma]","A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema.","[613085, 613086, 231300, 600975, 617272]",,,,,"Glaucoma, congenital",TRUE,FALSE,Active +GARD:2486,Active,Orphanet,ORPHA:359,Group of disorders,[Category],Pediatric-onset glaucoma of genetic origin,[Hereditary glaucoma],"A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.",,,,,,"Glaucoma, hereditary",TRUE,FALSE,Active +GARD:2487,Legacy,GARD,,,,,,,,,,,,"Glaucoma, hereditary adult type 1A",TRUE,FALSE,Active +GARD:2488,Legacy,GARD,,,,,,,,,,,,"Glaucoma, hereditary juvenile type 1B",TRUE,FALSE,Active +GARD:2489,Legacy,GARD,,,,,,,,,,,,"Glaucoma, primary infantile type 3A",TRUE,FALSE,Active +GARD:249,Active,Orphanet+OMIM,OMIM:122860,Subtype of disorder,[Malformation syndrome subtype],"Craniodiaphyseal dysplasia, autosomal dominant",,"Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by {2:Brueton and Winter, 1990}). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by {4:Kim et al., 2011}).",[122860],[1513],[Craniodiaphyseal dysplasia],[1567],,Schaefer Stein Oshman syndrome,TRUE,FALSE,Active +GARD:2490,Active,Orphanet+OMIM,OMIM:600975,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary infantile, b",,"For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A ({231300}).",[600975],[98976],[Congenital glaucoma],[2485],,Glaucoma 3 primary infantile B,TRUE,FALSE,Active +GARD:2491,Active,Orphanet,ORPHA:360,Disorder,[Disease],Glioblastoma,"[GBM, Glioblastoma multiforme]",Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).,"[137800, 613029]",,,,,Glioblastoma,TRUE,FALSE,Active +GARD:2492,Active,Orphanet+OMIM,OMIM:137940,Subtype of disorder,[Disease subtype],Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,"[telangiectatic membranoproliferative glomerulonephritis, Glomerulonephritis with sparse hair and telangiectases]","Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by {3:Moalem et al., 2015}).",[137940],[69735],[Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome],[12827],,Glomerulonephritis with sparse hair and telangiectases,TRUE,FALSE,Active +GARD:2495,Legacy,GARD,,,,,,,,,,,,Glossopalatine ankylosis micrognathia ear anomalies,TRUE,FALSE,Active +GARD:2496,Active,Orphanet,ORPHA:97280,Disorder,[Disease],Glucagonoma,[Glucagonoma syndrome],"Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.",,,,,,Glucagonoma,TRUE,FALSE,Active +GARD:2498,Active,Orphanet,ORPHA:361,Disorder,[Disease],Familial glucocorticoid deficiency,,"Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.","[609197, 617825, 614736, 607398, 202355, 202200]",,,,,Familial glucocorticoid deficiency,TRUE,FALSE,Active +GARD:2499,Active,Orphanet,ORPHA:786,Disorder,[Disease],Generalized glucocorticoid resistance syndrome,,"A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men.",[615962],,,,,Glucocorticoid resistance,TRUE,FALSE,Active +GARD:250,Active,Orphanet,ORPHA:800,Disorder,[Disease],Schwartz-Jampel syndrome,"[Aberfeld syndrome, Burton skeletal dysplasia, Burton syndrome, Catel-Hempel syndrome, Dysostosis enchondralis metaepiphysaria, Catel-Hempel type, Myotonic chondrodystrophy, Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, Osteochondromuscular dystrophy, SJS, SJS1, Schwartz-Jampel syndrome type 1, Schwartz-Jampel-Aberfeld syndrome]","A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).",[255800],,,,,Schwartz Jampel syndrome,TRUE,FALSE,Active +GARD:2501,Legacy,GARD,,,,,,,,,,,,Glucose-6-phosphate translocase deficiency,TRUE,FALSE,Active +GARD:2502,Legacy,GARD,,,,,,,,,,,,Glucosephosphate isomerase deficiency,TRUE,FALSE,Active +GARD:2503,Legacy,GARD,,,,,,,,,,,,"Glucosidase acid-1,4-alpha deficiency",TRUE,FALSE,Active +GARD:2505,Legacy,GARD,,,,,,,,,,,,Glutamate decarboxylase deficiency,TRUE,FALSE,Active +GARD:251,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease with ptosis and parkinsonism,TRUE,FALSE,Retired +GARD:2510,Legacy,GARD,,,,,,,,,,,,Glyceraldehyde-3-phosphate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:2513,Active,Orphanet,ORPHA:2089,Disorder,[Disease],Glycogen storage disease due to hepatic glycogen synthase deficiency,"[GSD due to hepatic glycogen synthase deficiency, GSD type 0a, Glycogen storage disease due to liver glycogen synthase deficiency, Glycogen storage disease type 0a, Glycogenosis type 0a]","A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.",[240600],,,,,"Glycogen storage disease type 0, liver",TRUE,FALSE,Active +GARD:2515,Active,Orphanet,ORPHA:79259,Subtype of disorder,[Clinical subtype],Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,"[G6P deficiency type Ib, G6P translocase deficiency, G6PT deficiency, GSD due to G6P deficiency type 1b, GSD due to G6P deficiency type Ib, GSD due to G6PT deficiency, GSD type 1 non a, GSD type 1b, GSD type Ib, GSDIb, Glycogen storage disease due to G6P deficiency type Ib, Glycogen storage disease type 1b, Glycogen storage disease type Ib, Glycogenosis due to glucose-6-phosphatase deficiency type 1b, Glycogenosis due to glucose-6-phosphatase transport defect type Ib, Glycogenosis type 1b, Glycogenosis type Ib]","Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).","[232240, 232220]",,,,,Glycogen storage disease type 1B,TRUE,FALSE,Active +GARD:2519,Legacy,GARD,,,,,,,,,,,,"Glycogen storage disease type 6, due to phosphorylation",TRUE,FALSE,Retired +GARD:2520,Active,Orphanet,ORPHA:367,Disorder,[Disease],Glycogen storage disease due to glycogen branching enzyme deficiency,"[Amylopectinosis, Andersen disease, GSD due to glycogen branching enzyme deficiency, GSD type 4, GSD type IV, Glycogen storage disease type 4, Glycogen storage disease type IV, Glycogenosis due to glycogen branching enzyme deficiency, Glycogenosis type 4, Glycogenosis type IV]","Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms).","[232500, 263570]",,,,,Glycogen storage disease type 4,TRUE,FALSE,Active +GARD:2521,Active,Orphanet,ORPHA:796,Disorder,[Disease],Sandhoff disease,"[GM2 gangliosidosis 0 variant, Hexosaminidases A and B deficiency]",Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.,[268800],,,,,"GM2 gangliosidosis, 0 variant",TRUE,FALSE,Active +GARD:2522,Legacy,GARD,,,,,,,,,,,,"GM2-gangliosidosis, B, B1, AB variant",TRUE,FALSE,Active +GARD:2523,Active,Orphanet,ORPHA:2090,Disorder,[Malformation syndrome],GMS syndrome,[Goniodysgenesis-intellectual disability-short stature syndrome],"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.",[138770],,,,,GMS syndrome,TRUE,FALSE,Active +GARD:253,Legacy,GARD,,,,,,,,,,,,Schwartz Cohen-Addad Lambert syndrome,TRUE,FALSE,Active +GARD:2532,Legacy,GARD,,,,,,,,,,,,"Trichomegaly, cataract, and hereditary spherocytosis",TRUE,FALSE,Retired +GARD:2533,Legacy,GARD,,,,,,,,,,,,Gollop Coates syndrome,TRUE,FALSE,Active +GARD:2537,Legacy,GARD,,,,,,,,,,,,GOMBO syndrome,TRUE,FALSE,Active +GARD:2538,Legacy,GARD,,,,,,,,,,,,Gonadal dysgenesis,TRUE,FALSE,Active +GARD:2539,Legacy,GARD,,,,,,,,,,,,Gonadal dysgenesis mixed,TRUE,FALSE,Active +GARD:254,Legacy,GARD,,,,,,,,,,,,Schroer Hammer Mauldin syndrome,TRUE,FALSE,Retired +GARD:2540,Legacy,GARD,,,,,,,,,,,,Gonadal dysgenesis Turner type,TRUE,FALSE,Active +GARD:2541,Active,Orphanet,ORPHA:1770,Disorder,[Malformation syndrome],XY type gonadal dysgenesis-associated anomalies syndrome,,"A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980.",[233430],,,,,Gonadal dysgenesis XY type associated anomalies,TRUE,FALSE,Active +GARD:2542,Active,Orphanet,ORPHA:2855,Disorder,[Disease],Perrault syndrome,"[XX gonodal dysgenesis-deafness syndrome, XX gonodal dysgenesis-hearing loss syndrome]","Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.","[233400, 616138, 614926, 615300, 617565, 614129]",,,,,Perrault syndrome,TRUE,FALSE,Active +GARD:2545,Legacy,GARD,,,,,,,,,,,,Goniodysgenesis mental retardation short stature,TRUE,FALSE,Retired +GARD:2546,Active,Orphanet,ORPHA:1482,Disorder,[Disease],Gonococcal conjunctivitis,,"A rare disorder of the anterior segment of the eye caused by Neisseria gonorrhoeae, characterized by a severe mucopurulent conjunctivitis associated with lid edema, often also with localized lymphadenopathy. It may be complicated by uveitis or keratitis which can eventually lead to corneal perforation. The disease most often occurs in teenagers and young adults with a male predominance, while infections are much less common in newborns, where they are typically bilateral.",,,,,,Gonococcal conjunctivitis,TRUE,FALSE,Active +GARD:2549,Active,Orphanet,ORPHA:65798,Disorder,[Malformation syndrome],Goodman syndrome,"[ACPS4, Acrocephalopolysyndactyly type 4]","A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disability. There have been no further descriptions in the literature since 1992.",[201020],,,,,Goodman syndrome,TRUE,FALSE,Retired +GARD:255,Legacy,GARD,,,,,,,,,,,,Schlegelberger Grote syndrome,TRUE,FALSE,Active +GARD:2551,Active,Orphanet,ORPHA:375,Disorder,[Disease],Anti-glomerular basement membrane disease,"[Anti-GBM syndrome, Goodpasture syndrome]","A rare, fulminant small vessel vasculitis that affects the capillary beds of the kidneys and lungs and characterized by the presence of anti-glomerular basement membrane (GBM) and, in its full-blown form, anti-alveolar basement membrane (ABM) antibodies. Consequently, it may manifest as a rapidly progressive, isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage.",[233450],,,,,Goodpasture syndrome,TRUE,FALSE,Active +GARD:2553,Active,Orphanet,ORPHA:376,Disorder,[Malformation syndrome],Gordon syndrome,"[Camptodactyly-cleft palate-clubfoot syndrome, Distal arthrogryposis type 3, Distal arthrogryposis type IIA]","Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.",[114300],,,,,Gordon syndrome,TRUE,FALSE,Active +GARD:2555,Legacy,GARD,,,,,,,,,,,,Gorlin Bushkell Jensen syndrome,TRUE,FALSE,Retired +GARD:2557,Active,Orphanet,ORPHA:2111,Disorder,[Disease],Cystic hamartoma of lung and kidney,[Graham-Boyle-Troxell syndrome],"Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.",,,,,,Graham Boyle Troxell syndrome,TRUE,FALSE,Active +GARD:2558,Legacy,GARD,,,,,,,,,,,,Grand Kaine Fulling syndrome,TRUE,FALSE,Retired +GARD:2559,Active,Orphanet,ORPHA:2097,Disorder,[Malformation syndrome],Grant syndrome,,"Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.",[138930],,,,,Grant syndrome,TRUE,FALSE,Active +GARD:256,Legacy,GARD,,,,,,,,,,,,Schrander-Stumpel Theunissen Hulsmans syndrome,TRUE,FALSE,Active +GARD:2562,Active,Orphanet,ORPHA:721,Disorder,[Disease],Gray platelet syndrome,"[Alpha storage pool deficiency, GPS, Platelet alpha-granule deficiency]","Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.","[187900, 139090]",,,,,Gray platelet syndrome,TRUE,FALSE,Active +GARD:2566,Active,Orphanet,ORPHA:79476,Subtype of disorder,[Clinical subtype],Griscelli syndrome type 1,"[Griscelli-Pruniéras syndrome type 1, Hypopigmentation-neurologic impairment syndrome]",,[214450],,,,,Griscelli syndrome type 1,TRUE,FALSE,Active +GARD:2567,Legacy,GARD,,,,,,,,,,,,Grix Blankenship Peterson syndrome,TRUE,FALSE,Active +GARD:2568,Active,Orphanet,ORPHA:3217,Disorder,[Disease],Deafness-small bowel diverticulosis-neuropathy syndrome,"[Groll-Hirschowitz syndrome, Hearing loss-small bowel diverticulosis-neuropathy syndrome]","A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.",[221400],,,,,Groll Hirschowitz syndrome,TRUE,FALSE,Active +GARD:257,Active,Orphanet,ORPHA:3041,Disorder,[Malformation syndrome],Intellectual disability-balding-patella luxation-acromicria syndrome,[Scholte-Begeer-van Essen syndrome],"Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.",[300977],,,,,Scholte syndrome,TRUE,FALSE,Active +GARD:2570,Legacy,GARD,,,,,,,,,,,,Growth deficiency brachydactyly unusual facies,TRUE,FALSE,Retired +GARD:2572,Active,Orphanet,ORPHA:2588,Disorder,[Malformation syndrome],Myhre syndrome,"[Facial dysmorphism-intellectual disability-short stature-deafness syndrome, Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome]","A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common.",[139210],,,,,Myhre syndrome,TRUE,FALSE,Active +GARD:2573,Legacy,GARD,,,,,,,,,,,,Growth retardation alopecia pseudoanodontia optic,TRUE,FALSE,Retired +GARD:2574,Legacy,GARD,,,,,,,,,,,,Growth retardation hydrocephaly lung hypoplasia,TRUE,FALSE,Active +GARD:2575,Legacy,GARD,,,,,,,,,,,,Growth retardation mental retardation phalangeal hypoplasia,TRUE,FALSE,Retired +GARD:2576,Active,Orphanet,ORPHA:2101,Disorder,[Malformation syndrome],Grubben-de Cock-Borghgraef syndrome,[Developmental delay-hypotonia-extremities hypertrophy syndrome],"Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.",[233810],,,,,Grubben de Cock Borghgraef syndrome,TRUE,FALSE,Active +GARD:2578,Active,Orphanet,ORPHA:382,Disorder,[Disease],Guanidinoacetate methyltransferase deficiency,[GAMT deficiency],"Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.",[612736],,,,,Guanidinoacetate methyltransferase deficiency,TRUE,FALSE,Active +GARD:2579,Active,Orphanet+OMIM,OMIM:259700,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 1","[marble bones, autosomal recessive, Osteopetrosis, infantile malignant 1, albers-schonberg disease, autosomal recessive]","Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by {1:Aker et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Osteopetrosis\n\nOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 ({611490}), which is caused by mutation in the CLCN7 gene ({602727}) on chromosome 16p13, and OPTB5 ({259720}), which is caused by mutation in the OSTM1 gene ({607649}) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; {259710}) is caused by mutation in the TNFSF11 gene ({602642}) on chromosome 13q14, an intermediate form (OPTB6; {611497}) is caused by mutation in the PLEKHM1 gene ({611466}) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7; {612301}) is caused by mutation in the TNFRSF11A gene ({603499}) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8; {615085}) is caused by mutation in the SNX10 gene ({614780}) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; {259730}) is caused by mutation in the CA2 gene ({611492}) on chromosome 8q21.\n\nAutosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).",[259700],[667],[Autosomal recessive malignant osteopetrosis],[15012],,Osteopetrosis autosomal recessive 1,TRUE,FALSE,Active +GARD:258,Active,Orphanet,ORPHA:2252,Disorder,[Malformation syndrome],Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,[Schmitt-Gillenwater-Kelly syndrome],"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.",[179250],,,,,Schmitt Gillenwater Kelly syndrome,TRUE,FALSE,Retired +GARD:2580,Active,Orphanet,ORPHA:1661,Disorder,[Disease],X-linked corneal dermoid,"[Corneal dystrophy epithelial-short stature syndrome, Guízar Vázquez-Luengas-Muñoz syndrome]","X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.",[304730],,,,,Dermoids of cornea,TRUE,FALSE,Active +GARD:2582,Legacy,GARD,,,,,,,,,,,,Hair defect-photosensitivity-intellectual disability syndrome,TRUE,FALSE,Active +GARD:2586,Active,Orphanet,ORPHA:2107,Disorder,[Malformation syndrome],Hall-Riggs syndrome,,"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.",[234250],,,,,Hall-Riggs syndrome,TRUE,FALSE,Active +GARD:2589,Active,Orphanet,ORPHA:2926,Disorder,[Malformation syndrome],Digital extensor muscle aplasia-polyneuropathy,"[Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy, Hamanishi-Ueba-Tsuji syndrome, Polyneuropathy-hand defect syndrome]","Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.",[207740],,,,,Hamanishi Ueba Tsuji syndrome,TRUE,FALSE,Active +GARD:259,Active,Orphanet,ORPHA:3145,Disorder,[Disease],Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome,,"A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990.",[221995],,,,,Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome,TRUE,FALSE,Active +GARD:2593,Active,Orphanet,ORPHA:1927,Disorder,[Malformation syndrome],Emery-Nelson syndrome,[Hand and foot deformity-flat facies syndrome],"Emery-Nelson syndrome is a rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.",[139750],,,,,Hand and foot deformity with flat facies,TRUE,FALSE,Active +GARD:2594,Active,Orphanet,ORPHA:2438,Disorder,[Malformation syndrome],Hand-foot-genital syndrome,"[HFGS, Hand-foot-uterus syndrome]",Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.,[140000],,,,,Hand foot uterus syndrome,TRUE,FALSE,Active +GARD:2597,Active,Orphanet,ORPHA:3294,Disorder,[Malformation syndrome],Extensor tendons of finger anomalies,[Hapnes-Boman-Skeie syndrome],"Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980.",[187390],,,,,"Tendons, extensor, of fingers, anomalous insertion of",TRUE,FALSE,Active +GARD:2598,Active,Orphanet,ORPHA:2812,Disorder,[Disease],Parana hard skin syndrome,"[Hard skin syndrome, Parana type]","Parana hard skin syndrome is a rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.",[260530],,,,,Hard skin syndrome Parana type,TRUE,FALSE,Active +GARD:2599,Active,Orphanet,ORPHA:899,Disorder,[Disease],Walker-Warburg syndrome,"[HARD syndrome, Hydrocephalus-agyria-retinal dysplasia syndrome, WWS]",Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.,"[613153, 615041, 613154, 253800, 618135, 616538, 614643, 615181, 236670, 253280, 613150, 615249, 615287, 614830]",,,,,Walker-Warburg syndrome,TRUE,FALSE,Active +GARD:26,Active,Orphanet,ORPHA:195,Disorder,[Malformation syndrome],Cat-eye syndrome,[CES],"Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.",[115470],,,,,Cat eye syndrome,TRUE,FALSE,Active +GARD:2600,Active,Orphanet,ORPHA:1177,Disorder,[Disease],Early-onset cerebellar ataxia with retained tendon reflexes,"[EOCA, EOCARR, Harding ataxia]","Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.",[212895],,,,,Harding ataxia,TRUE,FALSE,Active +GARD:2601,Active,Orphanet,ORPHA:2115,Disorder,[Malformation syndrome],Harrod syndrome,[Cranio-facio-digito-genital syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.",[601095],,,,,Harrod Doman Keele syndrome,TRUE,FALSE,Active +GARD:2604,Legacy,GARD,,,,,,,,,,,,Hashimoto-Pritzker syndrome,TRUE,FALSE,Active +GARD:2605,Active,Orphanet,ORPHA:2994,Disorder,[Malformation syndrome],Short stature-craniofacial anomalies-genital hypoplasia syndrome,[Haspeslagh-Fryns-Muelenaere syndrome],"A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.",[177980],,,,,Short stature-craniofacial anomalies-genital hypoplasia syndrome,TRUE,FALSE,Active +GARD:2610,Active,Orphanet+OMIM,OMIM:604559,Subtype of disorder,[Disease subtype],"Progressive familial heart block, type ib",[Pfhbib],,[604559],[871],[Familial progressive cardiac conduction defect],[10005],,Progressive familial heart block type 1B,TRUE,FALSE,Active +GARD:2612,Legacy,GARD,,,,,,,,,,,,"Heart defect, tongue hamartoma and polysyndactyly",TRUE,FALSE,Retired +GARD:2613,Active,Orphanet,ORPHA:1354,Disorder,[Malformation syndrome],Heart defects-limb shortening syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs) and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.",[212135],,,,,Cardioskeletal syndrome Kuwaiti type,TRUE,FALSE,Active +GARD:2614,Active,Orphanet,ORPHA:1342,Disorder,[Malformation syndrome],Heart-hand syndrome type 3,"[Atriodigital dysplasia type 3, Cardiomelic syndrome type 3, Heart-hand syndrome, Spanish type, Heart-limb syndrome type 3]","Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.",[140450],,,,,"Heart-hand syndrome, Spanish type",TRUE,FALSE,Active +GARD:2619,Legacy,GARD,,,,,,,,,,,,Heart tumor,TRUE,FALSE,Active +GARD:262,Active,Orphanet,ORPHA:644,Disorder,[Disease],NARP syndrome,"[Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome, Neuropathy-ataxia-retinitis pigmentosa syndrome]","A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.",[551500],,,,,Neuropathy ataxia retinitis pigmentosa syndrome,TRUE,FALSE,Active +GARD:2620,Active,Orphanet,ORPHA:2119,Disorder,[Malformation syndrome],HEC syndrome,[Hydrocephalus-endocardial fibroelastosis-cataract syndrome],"A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evience of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.",[600559],,,,,HEC syndrome,TRUE,FALSE,Active +GARD:2621,Active,Orphanet,ORPHA:3377,Disorder,[Malformation syndrome],Trismus-pseudocamptodactyly syndrome,"[Distal arthrogryposis type 7, Dutch-Kentucky syndrome, Hecht syndrome, Hecht-Beals syndrome]","A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.",[158300],,,,,Trismus-pseudocamptodactyly syndrome,TRUE,FALSE,Active +GARD:2622,Active,Orphanet,ORPHA:2492,Disorder,[Malformation syndrome],FATCO syndrome,"[Fibular aplasia-tibial campomelia-oligosyndactyly syndrome, Hecht-Scott syndrome]","A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.",,,,,,"Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome",TRUE,FALSE,Active +GARD:2627,Active,Orphanet+OMIM,OMIM:234820,Subtype of disorder,[Disease subtype],"Hemangiopericytoma, malignant",,"Malignant tumors of the vascular system are relatively uncommon and usually have an unfavorable, rapid clinical course. Metastases usually occur early by hematogenous routes to the lung and bone as well as to the regional lymph nodes. These vascular tumors may develop anywhere and can be difficult to diagnose, both clinically and histologically. Histogenetically they are of 2 main types: malignant hemangioendotheliomas originating from intimal endothelial cells, and malignant hemangiopericytomas arising from adventitial perivascular cells or pericytes. {1:Plukker et al. (1988)} reported malignant hemangiopericytoma in a brother and sister, aged 19 and 22 years, respectively, and in a 25-year-old fifth cousin of theirs. In 1 patient the tumor originated in the scalp, in the second in the right lower quadrant of the abdomen, and in the third in the right orbit.",[234820],[2126],[Solitary fibrous tumor/hemangiopericytoma],[15014],,Hemangiopericytoma,TRUE,FALSE,Active +GARD:2628,Legacy,GARD,,,,,,,,,,,,"Hemeralopia, congenital essential",TRUE,FALSE,Retired +GARD:2629,Legacy,GARD,,,,,,,,,,,,"Hemeralopia, familial",TRUE,FALSE,Retired +GARD:263,Legacy,GARD,,,,,,,,,,,,Narrow oral fissure short stature cone shaped epiphyses,TRUE,FALSE,Retired +GARD:2630,Active,Orphanet,ORPHA:2128,Disorder,[Morphological anomaly],Isolated hemihyperplasia,"[Hemi 3 syndrome, Hemicorporal hypertrophy, Isolated hemihypertrophy]","Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.",[235000],,,,,Hemi 3 syndrome,TRUE,FALSE,Active +GARD:2631,Legacy,GARD,,,,,,,,,,,,Hemifacial atrophy agenesis of the caudate nucleus,TRUE,FALSE,Retired +GARD:2633,Active,Orphanet,ORPHA:1241,Disorder,[Malformation syndrome],Bencze syndrome,[Hemifacial hyperplasia-strabismus syndrome],"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.",[141350],,,,,Hemifacial hyperplasia strabismus,TRUE,FALSE,Active +GARD:2636,Legacy,GARD,,,,,,,,,,,,Hemihypertrophy intestinal web corneal opacity,TRUE,FALSE,Retired +GARD:2637,Active,Orphanet,ORPHA:99802,Disorder,[Malformation syndrome],Hemimegalencephaly,[Unilateral megalencephaly],"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.",,,,,,Hemimegalencephaly,TRUE,FALSE,Active +GARD:2638,Active,Orphanet+OMIM,OMIM:141500,Subtype of disorder,[Disease subtype],"Migraine, familial hemiplegic, 1","[Fhm, mhp1]","Familial hemiplegic migraine-1 (FHM1) is an autosomal dominant form of migraine with aura. Typical attacks include a unilateral motor deficit associated with paresthesias, speech disturbances, or visual signs. These aura symptoms last from 10 minutes to a few hours and are followed by a migrainous headache. In some families, affected individuals have permanent cerebellar symptoms, such as nystagmus and slowly progressive mild to moderate statokinetic ataxia. In some cases, cerebral magnetic resonance imaging (MRI) reveals cerebellar atrophy (summary by {7:Ducros et al., 1999}).",[141500],[569],[Familial or sporadic hemiplegic migraine],[10768],,Familial hemiplegic migraine type 1,TRUE,FALSE,Retired +GARD:264,Active,Orphanet,ORPHA:1824,Disorder,[Disease],Lowry-Wood syndrome,[Epiphyseal dysplasia-microcephaly-nystagmus syndrome],"A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.",[226960],,,,,Lowry Wood syndrome,TRUE,FALSE,Active +GARD:2640,Active,Orphanet,ORPHA:2132,Disorder,[Disease],Hemoglobin C disease,,"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).",,,,,,Hemoglobin C disease,TRUE,FALSE,Active +GARD:2641,Active,Orphanet,ORPHA:2133,Disorder,[Disease],Hemoglobin E disease,,"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.",,,,,,Hemoglobin E disease,TRUE,FALSE,Active +GARD:2642,Active,Orphanet,ORPHA:1046,Disorder,[Malformation syndrome],Lethal hemolytic anemia-genital anomalies syndrome,[Water-West syndrome],"A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.",[600461],,,,,Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities,TRUE,FALSE,Active +GARD:2648,Legacy,GARD,,,,,,,,,,,,Hennekam Van der Horst syndrome,TRUE,FALSE,Retired +GARD:2649,Legacy,GARD,,,,,,,,,,,,Heparane sulfamidase deficiency,TRUE,FALSE,Active +GARD:265,Active,Orphanet,ORPHA:3351,Disorder,[Malformation syndrome],Trichodental syndrome,[Kersey syndrome],"A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported.",[601453],,,,,Trichodental syndrome,TRUE,FALSE,Active +GARD:2650,Active,Orphanet,ORPHA:3325,Disorder,[Disease],Heparin-induced thrombocytopenia,"[HAT, HIT, Heparin-associated thrombocytopenia, Heparin-induced thrombocytopenia type 2]","A rare drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.",,,,,,Heparin-induced thrombocytopenia,TRUE,FALSE,Active +GARD:2651,Active,Orphanet,ORPHA:386,Disorder,[Disease],Hepatic cystic hamartoma,"[Biliary hamartoma, MHL, Mesenchymal hamartoma of liver, VMC, Von Meyenburg complexes disease]","Hepatic cystic hamartoma, also named Mesenchyma hamartoma of liver, is a rare benign liver tumor of childhood, usually before the age of 2, of mesenchymal origin and variable clinical presentation (abdominal dissension, abdominal mass, pain, vomiting and signs of inferior vena cava compression).",,,,,,Hepatic cystic hamartoma,TRUE,FALSE,Active +GARD:2653,Legacy,GARD,,,,,,,,,,,,Hepatic fibrosis renal cysts mental retardation,TRUE,FALSE,Retired +GARD:2657,Active,Orphanet,ORPHA:449,Disorder,[Disease],Hepatoblastoma,,"A malignant hepatic tumor, typically affecting the pediatric population, arising mostly in an otherwise healthy liver. The most common signs are abdominal distension and abdominal mass. Sometimes patients present with anorexia, weight loss, fatigue. Most HBLs are sporadic, but some cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy, and familial adenomatous polyposis (FAP).",[114550],,,,,Hepatoblastoma,TRUE,FALSE,Active +GARD:2658,Active,Orphanet,ORPHA:882,Disorder,[Disease],Tyrosinemia type 1,"[FAH deficiency, Fumarylacetoacetase deficiency, Fumarylacetoacetate hydrolase deficiency, Hepatorenal tyrosinemia, Tyrosinemia type I]","Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.",[276700],,,,,Tyrosinemia type 1,TRUE,FALSE,Active +GARD:2659,Active,Orphanet,ORPHA:621,Disorder,[Disease],Hereditary methemoglobinemia,"[Autosomal recessive methemoglobinemia, Congenital methemoglobinemia]",A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2).,"[250700, 250790, 250800]",,,,,Hereditary methemoglobinemia,TRUE,FALSE,Active +GARD:2660,Legacy,GARD,,,,,,,,,,,,Hereditary myopathy with intranuclear filamentous,TRUE,FALSE,Retired +GARD:2661,Legacy,GARD,,,,,,,,,,,,Hereditary nodular heterotopia,TRUE,FALSE,Active +GARD:2662,Legacy,GARD,,,,,,,,,,,,Hereditary primary Fanconi disease,TRUE,FALSE,Retired +GARD:2663,Legacy,GARD,,,,,,,,,,,,Hereditary resistance to anti-vitamin K,TRUE,FALSE,Active +GARD:2669,Legacy,GARD,,,,,,,,,,,,Herpes virus antenatal infection,TRUE,FALSE,Active +GARD:267,Active,Orphanet,ORPHA:2662,Disorder,[Malformation syndrome],Keipert syndrome,[Nasodigitoacoustic syndrome],"A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.",[301026],,,,,Nasodigitoacoustic syndrome,TRUE,FALSE,Active +GARD:2670,Legacy,GARD,,,,,,,,,,,,Herpetic embryopathy,TRUE,FALSE,Retired +GARD:2671,Legacy,GARD,,,,,,,,,,,,Herrmann Opitz craniosynostosis,TRUE,FALSE,Active +GARD:2672,Legacy,GARD,,,,,,,,,,,,Hersh Podruch Weisskopk syndrome,TRUE,FALSE,Active +GARD:2682,Active,Orphanet,ORPHA:1808,Disorder,[Malformation syndrome],"Hidrotic ectodermal dysplasia, Christianson-Fourie type",[Christianson-Fourie syndrome],"Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.",[601375],,,,,"Ectodermal dysplasia, hidrotic, Christianson-Fourie type",TRUE,FALSE,Active +GARD:2684,Active,Orphanet,ORPHA:483,Disorder,[Disease],Congenital high-molecular-weight kininogen deficiency,,"A rare genetic hematologic disease characterized by abnormal surface-mediated activation of fibrinolysis due to the deficiency of high-molecular-weight kininogen in plasma. Activated partial thromboplastin time (aPTT) may be prolonged. Clinically, patients are typically asymptomatic and do not show increased bleeding or thrombotic tendency.",[228960],,,,,High molecular weight kininogen deficiency,TRUE,FALSE,Active +GARD:2685,Legacy,GARD,,,,,,,,,,,,Hillig syndrome,TRUE,FALSE,Retired +GARD:2686,Legacy,GARD,,,,,,,,,,,,Hing Torack Dowston syndrome,TRUE,FALSE,Retired +GARD:269,Active,Orphanet,ORPHA:2307,Disorder,[Malformation syndrome],IVIC syndrome,"[Oculo-oto-radial syndrome, Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia]","IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.",[147750],,,,,IVIC syndrome,TRUE,FALSE,Active +GARD:2690,Active,Orphanet,ORPHA:2114,Disorder,[Disease],"Hip dysplasia, Beukes type","[BFHD, Beukes familial hip dysplasia, Cilliers-Beighton syndrome, Premature degenerative osteoarthropathy of the hip]","A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.",[142669],,,,,Beukes familial hip dysplasia,TRUE,FALSE,Active +GARD:2691,Legacy,GARD,,,,,,,,,,,,Hip luxation,TRUE,FALSE,Retired +GARD:2692,Legacy,GARD,,,,,,,,,,,,Hip subluxation,TRUE,FALSE,Active +GARD:2695,Active,Orphanet,ORPHA:2151,Disorder,[Malformation syndrome],Hirschsprung disease-ganglioneuroblastoma syndrome,,"A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.",,,,,,Hirschsprung disease ganglioneuroblastoma,TRUE,FALSE,Active +GARD:2696,Legacy,GARD,,,,,,,,,,,,Hirschsprung disease polydactyly heart disease,TRUE,FALSE,Retired +GARD:2698,Legacy,GARD,,,,,,,,,,,,Hirschsprung disease type 2,TRUE,FALSE,Active +GARD:2699,Legacy,GARD,,,,,,,,,,,,Hirschsprung disease type 3,TRUE,FALSE,Active +GARD:27,Active,Orphanet,ORPHA:50839,Disorder,[Disease],Cat-scratch disease,[Bartonellosis due to Bartonella henselae infection],"Cat-scratch disease is a rare infectious disease, caused by the Gram-negative bacteria Bartonella henselae, that is transmitted to humans via a scratch or bite of an infected cat and that has a variable clinical presentation but that usually manifests with an erythematous papule at the site of inoculation followed by chronic regional lymphadenopathy. Clinical course is usually self-limiting but disseminated illness with high fever, hepatosplenomegaly, granulomatous osteolytic lesions, encephalitis, retinitis, and atypical pneumonia can also occur. Cat-scratch disease can atypically present as parinaud oculoglandular syndrome (unilateral conjunctivitis and preauricular lymphadenopathy).",,,,,,Cat scratch disease,TRUE,FALSE,Active +GARD:270,Active,Orphanet,ORPHA:3051,Disorder,[Malformation syndrome],Nicolaides-Baraitser syndrome,[Intellectual disability-sparse hair-brachydactyly syndrome],"A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth.",[601358],,,,,Nicolaides-Baraitser syndrome,TRUE,FALSE,Active +GARD:2700,Active,Orphanet,ORPHA:2150,Disorder,[Malformation syndrome],Hirschsprung disease-type D brachydactyly syndrome,,Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.,[306980],,,,,Hirschsprung disease type d brachydactyly,TRUE,FALSE,Active +GARD:2702,Legacy,GARD,,,,,,,,,,,,Hirschsprung microcephaly cleft palate,TRUE,FALSE,Retired +GARD:2703,Legacy,GARD,,,,,,,,,,,,Hirschsprung nail hypoplasia dysmorphism,TRUE,FALSE,Active +GARD:2705,Legacy,GARD,,,,,,,,,,,,Hirsutism skeletal dysplasia mental retardation,TRUE,FALSE,Retired +GARD:2706,Active,Orphanet,ORPHA:3283,Disorder,[Disease],His bundle tachycardia,"[JET, Junctional ectopic tachycardia]",His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.,,,,,,His bundle tachycardia,TRUE,FALSE,Active +GARD:2708,Active,Orphanet,ORPHA:2158,Disorder,[Disease],Histidinuria-renal tubular defect syndrome,,"A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.",[235830],,,,,Histidinuria renal tubular defect,TRUE,FALSE,Active +GARD:2709,Legacy,GARD,,,,,,,,,,,,Hittner Hirsch Kreh syndrome,TRUE,FALSE,Retired +GARD:271,Legacy,GARD,,,,,,,,,,,,Vagneur Triolle Ripert syndrome,TRUE,FALSE,Active +GARD:2710,Legacy,GARD,,,,,,,,,,,,Hm syndrome,TRUE,FALSE,Retired +GARD:2712,Active,Orphanet,ORPHA:35701,Disorder,[Disease],3-hydroxy-3-methylglutaryl-CoA synthase deficiency,[HMG-CoA synthase deficiency],"3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.",[605911],,,,,HMG CoA synthetase deficiency,TRUE,FALSE,Active +GARD:2714,Active,Orphanet,ORPHA:98293,Group of disorders,[Clinical group],Hodgkin lymphoma,,Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases.,,,,,,Hodgkin lymphoma,TRUE,FALSE,Active +GARD:2717,Legacy,GARD,,,,,,,,,,,,Holmes Borden syndrome,TRUE,FALSE,Retired +GARD:272,Active,Orphanet,ORPHA:3412,Disorder,[Malformation syndrome],VACTERL with hydrocephalus,[Sujansky-Leonard syndrome],"VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.","[276950, 314390]",,,,,VACTERL hydrocephaly,TRUE,FALSE,Active +GARD:2720,Legacy,GARD,,,,,,,,,,,,Holoacardius amorphus,TRUE,FALSE,Active +GARD:2721,Active,Orphanet,ORPHA:79242,Disorder,[Disease],Holocarboxylase synthetase deficiency,"[Early-onset multiple carboxylase deficiency, Neonatal multiple carboxylase deficiency]","A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.",[253270],,,,,Holocarboxylase synthetase deficiency,TRUE,FALSE,Active +GARD:2722,Active,Orphanet,ORPHA:2165,Disorder,[Malformation syndrome],Holoprosencephaly-caudal dysgenesis syndrome,,"Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).",,,,,,Holoprosencephaly caudal dysgenesis,TRUE,FALSE,Retired +GARD:2725,Active,Orphanet,ORPHA:2117,Disorder,[Malformation syndrome],Hartsfield syndrome,[Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome],"A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated.",[615465],,,,,Holoprosencephaly ectrodactyly cleft lip palate,TRUE,FALSE,Active +GARD:2727,Active,Orphanet,ORPHA:3186,Disorder,[Malformation syndrome],Holoprosencephaly-radial heart renal anomalies syndrome,[Steinfeld syndrome],"A rare multiple congenital anomalies syndrome characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.",[184705],,,,,Steinfeld syndrome,TRUE,FALSE,Active +GARD:2728,Active,Orphanet,ORPHA:2167,Disorder,[Malformation syndrome],Holzgreve syndrome,"[Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome, Holzgreve-Wagner-Rehder syndrome]","Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.",[236110],,,,,Holzgreve syndrome,TRUE,FALSE,Active +GARD:273,Active,Orphanet,ORPHA:2834,Subtype of disorder,[Clinical subtype],Wrinkly skin syndrome,"[WSS, Wrinkled skin syndrome]","Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).",[278250],,,,,Wrinkly skin syndrome,TRUE,FALSE,Active +GARD:2730,Legacy,GARD,,,,,,,,,,,,Homocarnosinosis,TRUE,FALSE,Active +GARD:2732,Legacy,GARD,,,,,,,,,,,,Homocystinuria due to defect in methylation cbl e,TRUE,FALSE,Active +GARD:2733,Legacy,GARD,,,,,,,,,,,,Homocystinuria due to defect in methylation cbl g,TRUE,FALSE,Active +GARD:2734,Active,Orphanet,ORPHA:395,Disorder,[Disease],Homocystinuria due to methylene tetrahydrofolate reductase deficiency,"[MTHFR deficiency, Methylene tetrahydrofolate reductase deficiency]",Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.,[236250],,,,,Homocystinuria due to MTHFR deficiency,TRUE,FALSE,Active +GARD:2735,Legacy,GARD,,,,,,,,,,,,Hoon Hall syndrome,TRUE,FALSE,Retired +GARD:2736,Legacy,GARD,,,,,,,,,,,,Hordnes Engebretsen Knudtson syndrome,TRUE,FALSE,Active +GARD:2737,Legacy,GARD,,,,,,,,,,,,Horn Kolb syndrome,TRUE,FALSE,Active +GARD:2739,Legacy,GARD,,,,,,,,,,,,Horseshoe kidney,FALSE,FALSE,Active +GARD:274,Active,Orphanet,ORPHA:2571,Disorder,[Disease],X-linked immunoneurologic disorder,[Woods-Black-Norbury syndrome],"X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.",[300076],,,,,Woods Black Norbury syndrome,TRUE,FALSE,Active +GARD:2742,Active,Orphanet,ORPHA:1352,Disorder,[Malformation syndrome],Atrioventricular defect-blepharophimosis-radial and anal defect syndrome,[Houlston-Ironton-Temple syndrome],"A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.",[600123],,,,,Houlston Ironton Temple syndrome,TRUE,FALSE,Retired +GARD:2748,Active,Orphanet,ORPHA:3265,Disorder,[Morphological anomaly],Humero-radial synostosis,[Humero-radial fusion],"Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.","[236400, 143050]",,,,,Humeroradial synostosis,TRUE,FALSE,Active +GARD:2749,Active,Orphanet,ORPHA:3266,Disorder,[Morphological anomaly],Humero-radio-ulnar synostosis,[Humero-radio-ulnar fusion],"Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.",,,,,,Humeroradioulnar synostosis,TRUE,FALSE,Active +GARD:275,Legacy,GARD,,,,,,,,,,,,Serpentine fibula polycystic kidney syndrome,TRUE,FALSE,Retired +GARD:2750,Active,Orphanet,ORPHA:3383,Disorder,[Malformation syndrome],Humerus trochlea aplasia,,"An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.",[191000],,,,,Trochlea of the humerus aplasia of,TRUE,FALSE,Active +GARD:2751,Legacy,GARD,,,,,,,,,,,,Hunter Carpenter Macdonald syndrome,TRUE,FALSE,Retired +GARD:2753,Legacy,GARD,,,,,,,,,,,,Hunter Macpherson syndrome,TRUE,FALSE,Retired +GARD:2754,Active,Orphanet,ORPHA:97340,Disorder,[Malformation syndrome],Hunter-McAlpine syndrome,,"Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).",[601379],,,,,Hunter-McAlpine syndrome,TRUE,FALSE,Active +GARD:2755,Legacy,GARD,,,,,,,,,,,,Hunter Mcdonald syndrome,TRUE,FALSE,Active +GARD:2756,Active,Orphanet,ORPHA:3365,Disorder,[Malformation syndrome],Trigonocephaly-broad thumbs syndrome,[Hunter-Rudd-Hoffmann syndrome],"Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.",,,,,,Hunter Rudd Hoffmann syndrome,TRUE,FALSE,Retired +GARD:2759,Legacy,GARD,,,,,,,,,,,,Hurst Hallam Hockey syndrome,TRUE,FALSE,Retired +GARD:276,Active,Orphanet+OMIM,OMIM:614841,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 12 with or without anosmia,"[Eunuchoidism, familial hypogonadotropic, gonadotropin deficiency, familial idiopathic]","Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {10:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614841],[432],[Normosmic congenital hypogonadotropic hypogonadism],[16533],,Eunuchoidism familial hypogonadotropic,TRUE,FALSE,Active +GARD:2762,Legacy,GARD,,,,,,,,,,,,Hyalinosis systemic short stature,TRUE,FALSE,Retired +GARD:2764,Active,Orphanet,ORPHA:400,Disorder,[Disease],Cystic echinococcosis,"[Hydatid disease, Hydatidosis]","Hydatidosis or cyst hydatic disease is a cosmopolitan larval cestodosis caused principally by the Echinococcus granulosus tapeworm, the adult form of which parasitises the intestine of dogs. Hydatidosis generally affects large domestic herbivores; humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement.",,,,,,Hydatidosis,TRUE,FALSE,Active +GARD:2765,Active,Orphanet,ORPHA:2898,Disorder,[Malformation syndrome],X-linked intellectual disability-plagiocephaly syndrome,[Hyde Forster-McCarthy-Berry syndrome],"A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.",[300064],,,,,X-linked intellectual disability-plagiocephaly syndrome,TRUE,FALSE,Active +GARD:2767,Legacy,GARD,,,,,,,,,,,,Hydrocephalus autosomal recessive,TRUE,FALSE,Active +GARD:277,Active,Orphanet,ORPHA:2892,Disorder,[Malformation syndrome],Pilodental dysplasia-refractive errors syndrome,"[Euhidrotic ectodermal dysplasia, Kopysc-Barczyk-Krol syndrome]","Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.",[262020],,,,,Pilodental dysplasia with refractive errors,TRUE,FALSE,Active +GARD:2772,Legacy,GARD,,,,,,,,,,,,Hydrocephalus craniosynostosis bifid nose,TRUE,FALSE,Retired +GARD:2774,Legacy,GARD,,,,,,,,,,,,Hydrocephalus growth retardation skeletal anomalies,TRUE,FALSE,Retired +GARD:2775,Active,Orphanet,ORPHA:2183,Disorder,[Malformation syndrome],Hydrocephalus-obesity-hypogonadism syndrome,[Sengers-Hamel-Otten syndrome],"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.",,,,,,Hydrocephalus obesity hypogonadism,TRUE,FALSE,Active +GARD:2776,Legacy,GARD,,,,,,,,,,,,Hydrocephalus skeletal anomalies,TRUE,FALSE,Active +GARD:2777,Legacy,GARD,,,,,,,,,,,,Hydrocephaly corpus callosum agenesis diaphragmatic hernia,TRUE,FALSE,Retired +GARD:2781,Legacy,GARD,,,,,,,,,,,,Hydronephrosis peculiar facial expression,TRUE,FALSE,Retired +GARD:2782,Legacy,GARD,,,,,,,,,,,,Hydrops ectrodactyly syndactyly,TRUE,FALSE,Retired +GARD:2783,Active,Orphanet,ORPHA:1041,Disorder,[Malformation syndrome],Hydrops fetalis,"[Fetal anasarca, Fetal hydrops, Generalized fetal edema, HF]","Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).",[236750],,,,,Hydrops fetalis,TRUE,FALSE,Active +GARD:2784,Legacy,GARD,,,,,,,,,,,,Hydrops fetalis anemia immune disorder absent thumb,TRUE,FALSE,Retired +GARD:2786,Legacy,GARD,,,,,,,,,,,,Hygroma cervical,TRUE,FALSE,Active +GARD:2787,Active,Orphanet,ORPHA:401,Disorder,[Disease],Hymenolepiasis,,"Hymenolepiasis is a cosmopolitan parasitosis caused by a hymenolepidid tapeworm infection, most commonly Hymenolepis nana, that is reported worldwide but particularly in tropical and subtropical countries and which is usually asymptomatic but in severe cases can also manifest with nausea, abdominal pain, anorexia, diarrhea and overall weakness.",,,,,,Hymenolepiasis,TRUE,FALSE,Active +GARD:2788,Active,Orphanet,ORPHA:343,Subtype of disorder,[Clinical subtype],Hyperimmunoglobulinemia D with periodic fever,"[HIDS, Hyper-IgD syndrome, Hyperimmunoglobinemia D with recurrent fever, Hyperimmunoglobulinemia D syndrome, Partial mevalonate kinase deficiency]","A rare autoinflammatory disease, and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations.",[260920],,,,,Hyper-IgD syndrome,TRUE,FALSE,Active +GARD:2789,Active,Orphanet,ORPHA:404,Disorder,[Disease],Familial hyperaldosteronism type II,"[FH-II, FH2, Familial adrenal adenoma, Familial hyperaldosteronism type 2]","A heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, non-glucocorticoid remediable hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA) and increased aldosterone-to-renin ratio.",[605635],,,,,Familial hyperaldosteronism type 2,TRUE,FALSE,Active +GARD:279,Legacy,GARD,,,,,,,,,,,,Hemorrhagic proctocolitis,TRUE,FALSE,Active +GARD:2790,Active,Orphanet,ORPHA:403,Disorder,[Disease],Familial hyperaldosteronism type I,"[Dexamethasone-sensitive hypertension, FH-I, FH1, Familial hyperaldosteronism type 1, GRA, Glucocorticoid-remediable aldosteronism, Glucocorticoid-sensitive hypertension]","A rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.",[103900],,,,,Glucocorticoid-remediable aldosteronism,TRUE,FALSE,Active +GARD:2791,Active,Orphanet,ORPHA:2312,Disorder,[Disease],Transient familial neonatal hyperbilirubinemia,[Lucey-Driscoll syndrome],"A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.",[237900],,,,,Hyperbilirubinemia transient familial neonatal,TRUE,FALSE,Active +GARD:2793,Active,Orphanet,ORPHA:234,Disorder,[Disease],Dubin-Johnson syndrome,"[Dubin-Sprinz disease, Hyperbilirubinemia type 2, Sprinz-Nelson syndrome]","Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.",[237500],,,,,Hyperbilirubinemia type 2,TRUE,FALSE,Active +GARD:2796,Active,Orphanet,ORPHA:93372,Subtype of disorder,[Etiological subtype],Familial hypocalciuric hypercalcemia type 1,[FHH type 1],,[145980],,,,,Familial hypocalciuric hypercalcemia type 1,TRUE,FALSE,Active +GARD:28,Active,Orphanet,ORPHA:1388,Disorder,[Malformation syndrome],Catel-Manzke syndrome,"[Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome, Index finger anomaly-Pierre Robin syndrome, Micrognathia digital syndrome, Palatodigital syndrome, Catel-Manzke type, Pierre Robin sequence-hyperphalangy-clinodactyly syndrome, Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome]","Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.",[616145],,,,,Catel Manzke syndrome,TRUE,FALSE,Active +GARD:280,Active,Orphanet,ORPHA:1809,Disorder,[Malformation syndrome],"Hidrotic ectodermal dysplasia, Halal type","[Halal-Setton-Wang syndrome, Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome]","Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.",,,,,,Halal Setton Wang syndrome,TRUE,FALSE,Active +GARD:2800,Legacy,GARD,,,,,,,,,,,,Hypercalcinuria macular coloboma,TRUE,FALSE,Active +GARD:2804,Active,Orphanet,ORPHA:168956,Group of disorders,[Clinical group],Hypereosinophilic syndrome,[HES],"Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.",,,,,,Hypereosinophilic syndrome,TRUE,FALSE,Active +GARD:2806,Active,Orphanet,ORPHA:163,Disorder,[Disease],Hereditary hyperferritinemia-cataract syndrome,"[Bonneau-Beaumont syndrome, HHCS, Hereditary hyperferritinemia with congenital cataracts]",Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.,[600886],,,,,Hyperferritinemia cataract syndrome,TRUE,FALSE,Active +GARD:2807,Active,Orphanet,ORPHA:408,Disorder,[Disease],Isolated glycerol kinase deficiency,[Hyperglycerolemia],"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)).",[307030],,,,,Hyperglycerolemia,TRUE,FALSE,Active +GARD:2808,Legacy,GARD,,,,,,,,,,,,"Hyperglycinemia, isolated nonketotic",FALSE,FALSE,Retired +GARD:2809,Legacy,GARD,,,,,,,,,,,,"Hyperglycinemia, isolated nonketotic type 1",FALSE,FALSE,Retired +GARD:281,Legacy,GARD,,,,,,,,,,,,Ramer Ladda syndrome,TRUE,FALSE,Retired +GARD:2810,Legacy,GARD,,,,,,,,,,,,"Hyperglycinemia, isolated nonketotic type 2",FALSE,FALSE,Retired +GARD:2811,Legacy,GARD,,,,,,,,,,,,"Hypergonadotropic ovarian failure, familial or sporadic",TRUE,FALSE,Active +GARD:2816,Active,Orphanet,ORPHA:217390,Disorder,[Disease],Combined immunodeficiency due to DOCK8 deficiency,"[CID due to DOCK8 deficiency, Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency, DOCK8 immunodeficiency syndrome]","Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).",[243700],,,,,Autosomal recessive hyper IgE syndrome,TRUE,FALSE,Active +GARD:2818,Active,Orphanet,ORPHA:79299,Disorder,[Disease],Hyperinsulinism due to glucokinase deficiency,[Hyperinsulinemic hypoglycemia due to glucokinase deficiency],"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.",[602485],,,,,Hyperinsulinism due to glucokinase deficiency,TRUE,FALSE,Active +GARD:2819,Legacy,GARD,,,,,,,,,,,,Hyperinsulinism due to glutamodehydrogenase deficiency,TRUE,FALSE,Active +GARD:282,Active,Orphanet,ORPHA:1832,Disorder,[Malformation syndrome],Lethal osteosclerotic bone dysplasia,[Raine syndrome],"A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.",[259775],,,,,Raine syndrome,TRUE,FALSE,Active +GARD:2821,Legacy,GARD,,,,,,,,,,,,"Hyperinsulinism, diffuse",TRUE,FALSE,Active +GARD:2822,Legacy,GARD,,,,,,,,,,,,"Hyperinsulinism, focal",TRUE,FALSE,Retired +GARD:2824,Active,Orphanet,ORPHA:409,Disorder,[Disease],Hyperkeratosis lenticularis perstans,[Flegel disease],"A rare skin disease characterized by usually asymptomatic, hyperkeratotic, reddish-brown papules primarily located on the lower extremities. Histological examination shows lamellar hyperkeratosis with abrupt peripheral basket-weave orthokeratosis, irregular acanthosis, and underlying lichenoid lymphocytic infiltrate. The condition may be sporadic or familial.",[144150],,,,,Hyperkeratosis lenticularis perstans,TRUE,FALSE,Active +GARD:2825,Legacy,GARD,,,,,,,,,,,,Hyperkeratosis palmoplantar localized acanthokeratolytic,TRUE,FALSE,Retired +GARD:2826,Active,Orphanet,ORPHA:2199,Disorder,[Disease],Epidermolytic palmoplantar keratoderma,"[Diffuse erythrodermic palmoplantar keratoderma, Voerner type, Diffuse erythrodermic palmoplantar keratoderma, Vörner type, EPPK, Epidermolytic palmoplantar keratoderma of Voerner, Epidermolytic palmoplantar keratoderma of Vörner]","A rare, non-syndromic, hereditary palmoplantar keratoderma characterized by diffuse, yellowish, thick hyperkeratosis of the palms and soles with a sharp demarcation at the volar border and an erythematous margin, and the epidermolytic pattern of changes on the skin biopsy, including perinuclear vacuolization, granular degeneration of keratinocytes in the spinous and granular layer, and tonofilament aggregates. Painful fissures and hyperhidrosis are frequently associated.",[144200],,,,,Epidermolytic palmoplantar keratoderma,TRUE,FALSE,Active +GARD:2828,Active,Orphanet,ORPHA:2203,Disorder,[Disease],Hyperlysinemia,"[Hyperlysinemia type I, Lysine alpha-ketoglutarate reductase deficiency]",Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.,"[238700, 238710]",,,,,Hyperlysinemia,TRUE,FALSE,Active +GARD:2830,Active,Orphanet,ORPHA:415,Disorder,[Disease],Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,"[HHH syndrome, ORNT1 deficiency, Ornithine carrier deficiency, Ornithine translocase deficiency, Triple H syndrome]","A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.",[238970],,,,,Ornithine translocase deficiency syndrome,TRUE,FALSE,Active +GARD:2831,Active,Orphanet,ORPHA:2801,Disorder,[Malformation syndrome],Juvenile Paget disease,"[Familial osteoectasia, Hereditary hyperphosphatasia, Hyperostosis corticalis deformans juvenilis, JPG]","Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.",[239000],,,,,Juvenile Paget disease,TRUE,FALSE,Active +GARD:2832,Legacy,GARD,,,,,,,,,,,,Hyperostosis cortical infantile,TRUE,FALSE,Retired +GARD:2833,Active,Orphanet,ORPHA:3416,Disorder,[Malformation syndrome],Hyperostosis corticalis generalisata,"[Hyperphosphatasemia tarda, Van Buchem disease]","Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.",[239100],,,,,Hyperostosis corticalis generalisata,TRUE,FALSE,Active +GARD:2835,Active,Orphanet,ORPHA:93598,Subtype of disorder,[Clinical subtype],Primary hyperoxaluria type 1,"[Glycolic aciduria, Peroxisomal alanine-glyoxylate aminotransferase deficiency]",,[259900],,,,,Primary hyperoxaluria type 1,TRUE,FALSE,Active +GARD:2836,Active,Orphanet,ORPHA:93599,Subtype of disorder,[Clinical subtype],Primary hyperoxaluria type 2,"[D-glycerate dehydrogenase deficiency, L-glyceric aciduria]",,[260000],,,,,Primary hyperoxaluria type 2,TRUE,FALSE,Active +GARD:2837,Active,Orphanet,ORPHA:2207,Group of disorders,[Clinical group],Familial primary hyperparathyroidism,,,,,,,,Familial isolated hyperparathyroidism,TRUE,FALSE,Active +GARD:2838,Active,Orphanet,ORPHA:417,Disorder,[Disease],Neonatal severe primary hyperparathyroidism,[NSHPT],Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.,"[618188, 239200]",,,,,Neonatal severe hyperparathyroidism,TRUE,FALSE,Active +GARD:284,Active,Orphanet,ORPHA:86915,Disorder,[Malformation syndrome],Lymphedema-atrial septal defects-facial changes syndrome,"[Irons-Bhan syndrome, Irons-Bianchi syndrome]","Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.",[601927],,,,,Irons Bhan syndrome,TRUE,FALSE,Active +GARD:2840,Legacy,GARD,,,,,,,,,,,,Hyperphenilalaninemia due to pterin-4-alpha-carbin,TRUE,FALSE,Retired +GARD:2843,Active,Orphanet,ORPHA:1578,Subtype of disorder,[Clinical subtype],Pterin-4 alpha-carbinolamine dehydratase deficiency,"[Hyperphenylalaninemia due to dehydratase deficiency, Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency, Hyperphenylalaninemia with primapterinuria]","A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.",[264070],,,,,Hyperphenylalaninemia due to dehydratase deficiency,TRUE,FALSE,Active +GARD:2844,Active,Orphanet,ORPHA:2102,Subtype of disorder,[Clinical subtype],GTP cyclohydrolase I deficiency,"[GTPCH deficiency, Hyperphenylalaninemia due to GTP cyclohydrolase deficiency]","GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.",[233910],,,,,GTP cyclohydrolase I deficiency,TRUE,FALSE,Active +GARD:2846,Legacy,GARD,,,,,,,,,,,,Hyperpipecolatemia,TRUE,FALSE,Retired +GARD:2847,Active,Orphanet,ORPHA:419,Disorder,[Disease],Hyperprolinemia type 1,[Proline oxidase deficiency],"A rare disorder of proline metabolism characterized biochemically by markedly elevated levels of proline in plasma and urine due to deficiency of proline oxidase. The reported clinical phenotype ranges from asymptomatic to variable neurologic and psychiatric manifestations (including global developmental delay, seizures, autistic features, and hyperactivity).",[239500],,,,,Hyperprolinemia,TRUE,FALSE,Active +GARD:2848,Legacy,GARD,,,,,,,,,,,,Hypertelorism and tetralogy of Fallot,TRUE,FALSE,Active +GARD:2854,Legacy,GARD,,,,,,,,,,,,Hypertensive hypokalemia familial,TRUE,FALSE,Retired +GARD:2856,Active,Orphanet,ORPHA:2216,Disorder,[Malformation syndrome],Maternal hyperthermia-induced birth defects,,"A rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.",,,,,,Hyperthermia induced defects,TRUE,FALSE,Active +GARD:2858,Active,Orphanet,ORPHA:424,Disorder,[Disease],Familial hyperthyroidism due to mutations in TSH receptor,"[Familial non-immune hyperthyroidism, Resistance to thyroid stimulating hormone]","A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.",[609152],,,,,Familial hyperthyroidism due to mutations in TSH receptor,TRUE,FALSE,Active +GARD:286,Legacy,GARD,,,,,,,,,,,,Imaizumi Kuroki syndrome,TRUE,FALSE,Retired +GARD:2863,Active,Orphanet,ORPHA:79495,Subtype of disorder,[Clinical subtype],X-linked congenital generalized hypertrichosis,"[Congenital generalized hypertrichosis, Macias-Flores type, Macias Flores-Garcia Cruz-Rivera syndrome]","X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.",[307150],,,,,X-linked congenital generalized hypertrichosis,TRUE,FALSE,Active +GARD:2864,Active,Orphanet,ORPHA:2221,Disorder,[Disease],Acquired hypertrichosis lanuginosa,,"A rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.",,,,,,"Hypertrichosis lanuginosa, acquired",TRUE,FALSE,Active +GARD:2865,Active,Orphanet,ORPHA:2222,Disorder,[Disease],Hypertrichosis lanuginosa congenita,[Hypertrichosis universalis],"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.","[145700, 145701, 307150]",,,,,Hypertrichosis lanuginosa congenita,TRUE,FALSE,Active +GARD:2868,Legacy,GARD,,,,,,,,,,,,Hypertrophic hemangiectasia,TRUE,FALSE,Retired +GARD:287,Active,Orphanet,ORPHA:2211,Disorder,[Malformation syndrome],Hypertelorism-hypospadias-polysyndactyly syndrome,"[Acrofrontofacionasal dysostosis type 2, Acrofrontofacionasal syndrome type 2, Naguib-Richieri-Costa syndrome]",Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.,[239710],,,,,Naguib-Richieri-Costa syndrome,TRUE,FALSE,Active +GARD:2871,Active,Orphanet,ORPHA:2224,Disorder,[Disease],Hypertryptophanemia,,"A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.",[600627],,,,,Hypertryptophanemia,TRUE,FALSE,Active +GARD:2872,Active,Orphanet,ORPHA:425,Disorder,[Disease],Apolipoprotein A-I deficiency,"[ApoA-I deficiency, Familial apoA-I deficiency, Familial hypoalphalipoproteinemia]","A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).","[604091, 618463]",,,,,Familial HDL deficiency,TRUE,FALSE,Active +GARD:2874,Legacy,GARD,,,,,,,,,,,,Hypoaldosteronism,TRUE,FALSE,Active +GARD:2875,Legacy,GARD,,,,,,,,,,,,Hypobetalipoproteinaemia ataxia hearing loss,TRUE,FALSE,Retired +GARD:2876,Active,Orphanet+OMIM,OMIM:615558,Subtype of disorder,[Disease subtype],"Hypobetalipoproteinemia, familial, 1","[hypobetalipoproteinemia, normotriglyceridemic, acanthocytosis with hypobetalipoproteinemia, Hypobetalipoproteinemia, familial]","Hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL; {200100}) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of FHBL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance, whereas obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance (summary by {15:Lee and Hegele, 2014}).\n\n<Subhead> Genetic Heterogeneity of Familial Hypobetalipoproteinemia\n\nFamilial hypobetalipoproteinemia-2 (FHBL2; {605019}) is caused by mutation in the ANGPTL3 gene ({604774}) on chromosome 1p31.",[615558],[14],[Abetalipoproteinemia],[5],,Familial hypobetalipoproteinemia,TRUE,FALSE,Active +GARD:2877,Active,Orphanet,ORPHA:428,Subtype of disorder,[Clinical subtype],Autosomal dominant hypocalcemia,[AD hypocalcemia],A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.,"[615361, 601198]",,,,,"Hypocalcemia, autosomal dominant",TRUE,FALSE,Active +GARD:2878,Active,Orphanet,ORPHA:101050,Subtype of disorder,[Etiological subtype],Familial hypocalciuric hypercalcemia type 3,[FHH type 3],,[600740],,,,,Familial hypocalciuric hypercalcemia type 3,TRUE,FALSE,Active +GARD:288,Active,Orphanet,ORPHA:2108,Disorder,[Malformation syndrome],Hallermann-Streiff syndrome,"[François dyscephalic syndrome, Oculomandibulofacial syndrome]","Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.",[234100],,,,,Hallermann-Streiff syndrome,TRUE,FALSE,Active +GARD:2882,Active,Orphanet,ORPHA:932,Disorder,[Disease],Achondrogenesis,,"A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.","[200610, 200600, 600972]",,,,,Achondrogenesis,TRUE,FALSE,Active +GARD:2883,Legacy,GARD,,,,,,,,,,,,Hypodermyasis,TRUE,FALSE,Active +GARD:2886,Legacy,GARD,,,,,,,,,,,,Hypodontia of incisors and premolars,TRUE,FALSE,Retired +GARD:2887,Active,Orphanet,ORPHA:101041,Subtype of disorder,[Clinical subtype],Familial hypofibrinogenemia,,Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.,[202400],,,,,"Hypofibrinogenemia, familial",TRUE,FALSE,Active +GARD:2889,Legacy,GARD,,,,,,,,,,,,Hypoglycemia with deficiency of glycogen synthetase in the liver,TRUE,FALSE,Active +GARD:2890,Legacy,GARD,,,,,,,,,,,,Hypogonadism cardiomyopathy,TRUE,FALSE,Retired +GARD:2893,Legacy,GARD,,,,,,,,,,,,Hypogonadism male mental retardation skeletal anomaly,TRUE,FALSE,Retired +GARD:2894,Legacy,GARD,,,,,,,,,,,,Hypogonadism mitral valve prolapse mental retardation,TRUE,FALSE,Retired +GARD:2895,Legacy,GARD,,,,,,,,,,,,Hypogonadism primary partial alopecia,TRUE,FALSE,Active +GARD:2897,Active,Orphanet+OMIM,OMIM:146110,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 7 with or without anosmia,"[Hypogonadism, isolated hypogonadotropic, idiopathic hypogonadotropic hypogonadism]","Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {17:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[146110],[432],[Normosmic congenital hypogonadotropic hypogonadism],[16533],,"Hypogonadism, isolated, hypogonadotropic",TRUE,FALSE,Active +GARD:2899,Legacy,GARD,,,,,,,,,,,,"Hypogonadotropic hypogonadism without anosmia, X-linked",TRUE,FALSE,Retired +GARD:29,Active,Orphanet,ORPHA:138,Disorder,[Malformation syndrome],CHARGE syndrome,"[CHARGE association, Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome, Hall-Hittner syndrome]","CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).",[214800],,,,,CHARGE syndrome,TRUE,FALSE,Active +GARD:290,Active,Orphanet,ORPHA:2109,Disorder,[Malformation syndrome],Hallermann-Streiff-like syndrome,"[Dennis-Fairhurst-Moore syndrome, Hallermann-Streiff-François syndrome, severe form, Severe Hallermann-Streiff-François syndrome]","A rare genetic bone development disorder characterized by multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull, and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth, and posteriorly angulated ears). Bilateral microphthalmia, cataracts, and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period. There have been no further descriptions in the literature since 1995.",,,,,,Dennis Fairhurst Moore syndrome,TRUE,FALSE,Retired +GARD:2905,Active,Orphanet,ORPHA:154,Disorder,[Disease],Familial isolated dilated cardiomyopathy,[Familial or idiopathic dilated cardiomyopathy],"A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.","[615396, 604145, 605582, 613881, 611615, 613424, 613286, 613642, 115200, 613694, 604765, 608569, 604288, 607482, 615184, 615235, 601493, 609915, 600884, 601494, 612877, 609909, 302045, 614672, 611407, 611878, 615916, 611879, 613252, 613426, 611880, 613172, 615248, 613122, 618189, 615373, 606685, 612158, 613697, 601154]",,,,,Familial dilated cardiomyopathy,TRUE,FALSE,Active +GARD:2906,Active,Orphanet,ORPHA:31043,Subtype of disorder,[Clinical subtype],Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,"[FHHNC without severe ocular involvement, HOMG3, Renal hypomagnesemia type 3]","Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.",[248250],,,,,Familial primary hypomagnesemia,TRUE,FALSE,Active +GARD:2907,Active,Orphanet,ORPHA:1790,Disorder,[Malformation syndrome],Hypomandibular faciocranial dysostosis,,"Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.",[241310],,,,,Hypomandibular faciocranial dysostosis,TRUE,FALSE,Active +GARD:2908,Active,Orphanet,ORPHA:2491,Disorder,[Malformation syndrome],Müllerian duct anomalies-limb anomalies syndrome,,"Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.",[146160],,,,,Hypomelia mullerian duct anomalies,TRUE,FALSE,Active +GARD:291,Legacy,GARD,,,,,,,,,,,,Spasticity multiple exostoses,TRUE,FALSE,Active +GARD:2910,Active,Orphanet,ORPHA:2238,Disorder,[Disease],Familial isolated hypoparathyroidism,,"Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.","[615361, 146200, 601198, 307700]",,,,,Familial isolated hypoparathyroidism,TRUE,FALSE,Active +GARD:2911,Active,Orphanet,ORPHA:2237,Disorder,[Malformation syndrome],Hypoparathyroidism-sensorineural deafness-renal disease syndrome,"[Barakat syndrome, HDR syndrome, Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome]","Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).",[146255],,,,,Barakat syndrome,TRUE,FALSE,Active +GARD:2913,Legacy,GARD,,,,,,,,,,,,Hypoparathyroidism short stature mental retardation,TRUE,FALSE,Retired +GARD:2914,Active,Orphanet+OMIM,OMIM:307700,Subtype of disorder,[Clinical subtype],"Hypoparathyroidism, x-linked",,,[307700],[2239],[Familial isolated hypoparathyroidism due to agenesis of parathyroid gland],[16589],,Hypoparathyroidism X-linked,TRUE,FALSE,Active +GARD:2917,Legacy,GARD,,,,,,,,,,,,Hypopituitarism,TRUE,FALSE,Active +GARD:2918,Legacy,GARD,,,,,,,,,,,,Hypopituitarism micropenis cleft lip palate,TRUE,FALSE,Retired +GARD:292,Active,Orphanet,ORPHA:2269,Disorder,[Disease],Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,[Jagell-Holmgren-Hofer syndrome],"Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.",[242510],,,,,Ichthyosis alopecia eclabion ectropion intellectual disability,TRUE,FALSE,Active +GARD:2920,Legacy,GARD,,,,,,,,,,,,Hypopituitarism postaxial polydactyly,TRUE,FALSE,Retired +GARD:2921,Legacy,GARD,,,,,,,,,,,,Hypoplasia hepatic ductular,TRUE,FALSE,Retired +GARD:2922,Active,Orphanet,ORPHA:98723,Group of disorders,[Clinical group],Hypoplastic right heart syndrome,,"A rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type (see this term). Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.",,,,,,Hypoplastic right heart syndrome,TRUE,FALSE,Active +GARD:2923,Legacy,GARD,,,,,,,,,,,,Hypoplastic thumb mullerian aplasia,TRUE,FALSE,Retired +GARD:2924,Legacy,GARD,,,,,,,,,,,,Hypoplastic thumbs hydranencephaly,TRUE,FALSE,Retired +GARD:2926,Active,Orphanet,ORPHA:325,Disorder,[Disease],Congenital factor II deficiency,"[Dysprothrombinemia, Hypoprothrombinemia, Prothrombin deficiency]","A rare inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous and soft tissue bleeding symptoms.",[613679],,,,,Prothrombin deficiency,TRUE,FALSE,Active +GARD:2927,Legacy,GARD,,,,,,,,,,,,Hyposmia nasal hypoplasia hypogonadism,TRUE,FALSE,Retired +GARD:2928,Active,Orphanet,ORPHA:2261,Disorder,[Malformation syndrome],"Hypospadias-intellectual disability, Goldblatt type syndrome",[Goldblatt-Wallis syndrome],"A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.",[241760],,,,,"Hypospadias-intellectual disability, Goldblatt type syndrome",TRUE,FALSE,Active +GARD:2929,Legacy,GARD,,,,,,,,,,,,Hypospadias familial,TRUE,FALSE,Active +GARD:293,Legacy,GARD,,,,,,,,,,,,Rodrigues blindness,TRUE,FALSE,Active +GARD:2930,Active,Orphanet,ORPHA:2353,Disorder,[Malformation syndrome],Schilbach-Rott syndrome,"[BRSS, Hypotelorism-cleft palate-hypospadias syndrome]","Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.",[164220],,,,,Hypotelorism cleft palate hypospadias,TRUE,FALSE,Active +GARD:2932,Legacy,GARD,,,,,,,,,,,,Hypothalamic dysfunction,TRUE,FALSE,Retired +GARD:2934,Legacy,GARD,,,,,,,,,,,,Hypothalamic hamartomas,TRUE,FALSE,Active +GARD:2938,Legacy,GARD,,,,,,,,,,,,Hypothyroidism due to iodide transport defect,TRUE,FALSE,Active +GARD:2939,Legacy,GARD,,,,,,,,,,,,Hypothyroidism postaxial polydactyly mental retardation,TRUE,FALSE,Retired +GARD:294,Legacy,GARD,,,,,,,,,,,,Enchondromatosis dwarfism deafness,TRUE,FALSE,Active +GARD:2940,Legacy,GARD,,,,,,,,,,,,Hypotonic sclerotic muscular dystrophy,TRUE,FALSE,Retired +GARD:2943,Active,Orphanet,ORPHA:206428,Group of disorders,[Clinical group],Hypoxanthine-guanine phosphoribosyltransferase deficiency,"[HPRT deficiency, HPRT1 deficiency, Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency]",Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.,,,,,,Hypoxanthine guanine phosphoribosyltransferase deficiency,TRUE,FALSE,Active +GARD:2944,Legacy,GARD,,,,,,,,,,,,IBIDS syndrome,TRUE,FALSE,Retired +GARD:2945,Active,Orphanet,ORPHA:2268,Disorder,[Malformation syndrome],ICF syndrome,[Immunodeficiency-centromeric instability-facial anomalies syndrome],"The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.","[616910, 614069, 242860, 616911]",,,,,ICF syndrome,TRUE,FALSE,Active +GARD:2946,Active,Orphanet+OMIM,OMIM:242150,Subtype of disorder,[Disease subtype],"Keratitis-ichthyosis-deafness syndrome, autosomal recessive","[kid syndrome, autosomal recessive, desmons syndrome, Ichthyosiform erythroderma, corneal involvement, and deafness]","Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) is characterized by neonatal-onset ichthyotic erythroderma and profound sensorineural deafness, with failure to thrive and developmental delay in childhood. Severe corneal scarring with vision loss has been observed in adulthood. Low plasma copper and ceruloplasmin levels have been reported in some patients ({1:Alsaif et al., 2019}; {2:Boyden et al., 2019}).\n\nAn autosomal dominant form of KID syndrome (KIDAD; {148210}) is caused by mutation in the GJB2 gene ({121011}) on chromosome 13q12.",[242150],[477],[KID syndrome],[3113],,"Ichthyosiform erythroderma, corneal involvement, deafness",TRUE,FALSE,Active +GARD:2947,Legacy,GARD,,,,,,,,,,,,Ichthyosis cheek eyebrow syndrome,TRUE,FALSE,Active +GARD:2948,Legacy,GARD,,,,,,,,,,,,Ichthyosis congenita biliary atresia,TRUE,FALSE,Active +GARD:2949,Legacy,GARD,,,,,,,,,,,,Ichthyosis deafness mental retardation skeletal anomaly,TRUE,FALSE,Retired +GARD:295,Legacy,GARD,,,,,,,,,,,,Nevo syndrome,TRUE,FALSE,Retired +GARD:2952,Active,Orphanet,ORPHA:2273,Disorder,[Disease],Ichthyosis follicularis-alopecia-photophobia syndrome,"[IFAP syndrome, Ichthyosis follicularis-atrichia-photophobia syndrome]","Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.","[619016, 308205]",,,,,Ichthyosis follicularis atrichia photophobia syndrome,TRUE,FALSE,Active +GARD:2954,Active,Orphanet,ORPHA:79503,Disorder,[Disease],Ichthyosis hystrix of Curth-Macklin,"[Ichthyosis hystrix, Curth-Macklin type]","Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term).",[146590],,,,,"Ichthyosis hystrix, Curth Macklin type",TRUE,FALSE,Active +GARD:2957,Legacy,GARD,,,,,,,,,,,,Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin,TRUE,FALSE,Retired +GARD:2958,Legacy,GARD,,,,,,,,,,,,Ichthyosis mental retardation dwarfism renal impairment,TRUE,FALSE,Retired +GARD:296,Active,Orphanet,ORPHA:2832,Disorder,[Malformation syndrome],Short tarsus-absence of lower eyelashes syndrome,[Lopes-Gorlin syndrome],Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.,[600269],,,,,Lopes Gorlin syndrome,TRUE,FALSE,Active +GARD:2960,Active,Orphanet,ORPHA:2272,Disorder,[Malformation syndrome],Ichthyosis-oral and digital anomalies syndrome,[Clayton Smith-Donnai syndrome],"Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.",[258840],,,,,Ichthyosis tapered fingers midline groove up,TRUE,FALSE,Active +GARD:2961,Legacy,GARD,,,,,,,,,,,,"Ichthyosis, erythrokeratolysis hemalis",TRUE,FALSE,Retired +GARD:2965,Legacy,GARD,,,,,,,,,,,,Ichthyosis and male hypogonadism,TRUE,FALSE,Retired +GARD:2966,Active,Orphanet,ORPHA:455,Disorder,[Disease],Superficial epidermolytic ichthyosis,"[Ichthyosis bullosa of Siemens, SEI]",Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.,[146800],,,,,Ichthyosis bullosa of Siemens,TRUE,FALSE,Active +GARD:2967,Legacy,GARD,,,,,,,,,,,,Ichthyosis linearis circumflexa,TRUE,FALSE,Active +GARD:2969,Legacy,GARD,,,,,,,,,,,,"Nystagmus 1, congenital, X- linked",TRUE,FALSE,Active +GARD:297,Legacy,GARD,,,,,,,,,,,,Lockwood Feingold syndrome,TRUE,FALSE,Retired +GARD:2970,Legacy,GARD,,,,,,,,,,,,Idiopathic diffuse interstitial fibrosis,TRUE,FALSE,Retired +GARD:2978,Active,Orphanet+OMIM,OMIM:601631,Subtype of disorder,[Morphological anomaly subtype],Anterior segment dysgenesis 3,"[iris hypoplasia with glaucoma, glaucoma iridogoniodysplasia, familial, Iridogoniodysgenesis, type 1, iridogoniodysgenesis anomaly, autosomal dominant]","Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {4:Cheong et al., 2016}).\n\nAnterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon ({6:Gould and John, 2002}).\n\nSome patients with ASGD3 have been reported with the following subtypes: iridogoniodysgenesis, Peters anomaly, Axenfeld anomaly, and Rieger anomaly.\n\nIridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by {16:Mears et al., 1996}).\n\nPeters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea ({22:Peters, 1906}).\n\nIn Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by {23:Smith and Traboulsi, 2012}).",[601631],"[91483, 98978]","[Axenfeld anomaly, Rieger anomaly]","[16485, 16482]",,Iridogoniodysgenesis type 1,TRUE,FALSE,Active +GARD:2979,Legacy,GARD,,,,,,,,,,,,Illum syndrome,FALSE,FALSE,Retired +GARD:298,Active,Orphanet,ORPHA:2410,Disorder,[Malformation syndrome],Hypergonadotropic hypogonadism-cataract syndrome,[Lubinsky syndrome],A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.,[240950],,,,,Lubinsky syndrome,TRUE,FALSE,Active +GARD:2981,Active,Orphanet+OMIM,OMIM:242670,Subtype of disorder,[Disease subtype],Ciliary dyskinesia with defective radial spokes,[Immotile cilia syndrome due to defective radial spokes],,[242670],[244],[Primary ciliary dyskinesia],[4484],,"Immotile cilia syndrome, due to defective radial spokes",TRUE,FALSE,Active +GARD:2982,Active,Orphanet+OMIM,OMIM:242680,Subtype of disorder,[Disease subtype],Ciliary dyskinesia with excessively long cilia,[Immotile cilia syndrome due to excessively long cilia],,[242680],[244],[Primary ciliary dyskinesia],[4484],,Ciliary dyskinesia with excessively long cilia,TRUE,FALSE,Active +GARD:2984,Active,Orphanet+OMIM,OMIM:146830,Subtype of disorder,[Disease subtype],"Immune deficiency, familial variable",,"{2:Rosen and Bougas (1963)} reported the case of a woman with recurrent infection, marked elevation of 19S gamma globulin, and virtual absence of 7S. {1:Feldman et al. (1975)} found that 12 relatives had a variable immunodeficiency. Ten had elevation of IgM, combined with deficiency of IgG and IgA in 3 and deficiency of one or the other in 2. Five had only elevated IgM and 2 had normal IgM but deficiency of IgG and IgA. No male-to-male transmission was observed.",[146830],[1572],[Common variable immunodeficiency],[6140],,"Immune deficiency, familial variable",TRUE,FALSE,Active +GARD:2986,Legacy,GARD,,,,,,,,,,,,"Immunodeficiency, microcephaly with normal intelligence",TRUE,FALSE,Retired +GARD:2988,Active,Orphanet,ORPHA:935,Disorder,[Disease],Short-limb skeletal dysplasia with severe combined immunodeficiency,"[Achondroplasia-SCID syndrome, Achondroplasia-Swiss type agammaglobulinemia syndrome, Achondroplasia-severe combined immunodeficiency syndrome, Immunodeficiency-short limb dwarfism syndrome, Short limb skeletal dysplasia with SCID]","An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.",[200900],,,,,Short-limb skeletal dysplasia with severe combined immunodeficiency,TRUE,FALSE,Active +GARD:2989,Active,Orphanet,ORPHA:2759,Disorder,[Malformation syndrome],Imperforate oropharynx-costovertebral anomalies syndrome,[Seghers syndrome],"Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.",,,,,,Imperforate oropharynx-costo vetebral anomalies,TRUE,FALSE,Active +GARD:299,Active,Orphanet,ORPHA:231556,Disorder,[Disease],Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,[Late-onset localized JEB-intellectual disability syndrome],"A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.",[226440],,,,,Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,TRUE,FALSE,Active +GARD:2992,Legacy,GARD,,,,,,,,,,,,Hypomelanosis of Ito,TRUE,FALSE,Active +GARD:2994,Legacy,GARD,,,,,,,,,,,,Fetal indomethacin syndrome,TRUE,FALSE,Active +GARD:2995,Active,Orphanet,ORPHA:1943,Disorder,[Disease],Early-onset progressive encephalopathy with migrant continuous myoclonus,,"A rare disorder characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown.",,,,,,Infant epilepsy with migrant focal crisis,TRUE,FALSE,Active +GARD:2996,Legacy,GARD,,,,,,,,,,,,Infantile axonal neuropathy,TRUE,FALSE,Active +GARD:2998,Active,Orphanet,ORPHA:2591,Disorder,[Disease],Infantile myofibromatosis,,"A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts.","[615293, 228550]",,,,,Infantile myofibromatosis,TRUE,FALSE,Active +GARD:3,Active,Orphanet,ORPHA:920,Disorder,[Malformation syndrome],Ablepharon macrostomia syndrome,,"An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.",[200110],,,,,Ablepharon macrostomia syndrome,TRUE,FALSE,Active +GARD:30,Legacy,GARD,,,,,,,,,,,,Cholecystitis,TRUE,FALSE,Active +GARD:3000,Legacy,GARD,,,,,,,,,,,,Infantile recurrent chronic multifocal osteomyelitis,TRUE,FALSE,Retired +GARD:30000,Draft,GARD,,Group of disorders,[Category],Rare to-be-classified GARD Diseases,,,,,,,,,,, +GARD:3002,Active,Orphanet,ORPHA:3173,Disorder,[Disease],Infantile spasms-broad thumbs syndrome,[Tsao-Ellingson syndrome],"Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.",,,,,,Infantile spasms broad thumbs,TRUE,FALSE,Active +GARD:3004,Legacy,GARD,,,,,,,,,,,,Infantile striato thalamic degeneration,TRUE,FALSE,Active +GARD:3005,Legacy,GARD,,,,,,,,,,,,Infundibulopelvic dysgenesis,TRUE,FALSE,Active +GARD:3006,Active,Orphanet,ORPHA:642,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 4,"[CIPA, Congenital insensitivity to pain with anhidrosis, HSAN4, Hereditary sensory and autonomic neuropathy type IV]","A rare hereditary sensory and autonomic neuropathy characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.",[256800],,,,,Congenital insensitivity to pain with anhidrosis,TRUE,FALSE,Active +GARD:3007,Active,Orphanet,ORPHA:1052,Disorder,[Malformation syndrome],Mosaic variegated aneuploidy syndrome,[Warburton-Anyane-Yeboa syndrome],Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.,"[257300, 617598, 614114]",,,,,Mosaic variegated aneuploidy syndrome,TRUE,FALSE,Active +GARD:3008,Active,Orphanet,ORPHA:2297,Disorder,[Disease],Insulin-resistance syndrome type A,,"Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.",[610549],,,,,"Insulin-resistant acanthosis nigricans, type A",TRUE,FALSE,Active +GARD:3009,Active,Orphanet,ORPHA:2298,Disorder,[Disease],Insulin-resistance syndrome type B,,A rare genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor.,,,,,,Insulin-resistance type B,TRUE,FALSE,Active +GARD:301,Legacy,GARD,,,,,,,,,,,,Generalized resistance to thyroid hormone,TRUE,FALSE,Active +GARD:3010,Active,Orphanet,ORPHA:97279,Disorder,[Disease],Insulinoma,,"A form of functioning pancreatic neuroendocrine tumor characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.",,,,,,Insulinoma,TRUE,FALSE,Active +GARD:3011,Legacy,GARD,,,,,,,,,,,,"Interferon gamma, receptor 1, deficiency",TRUE,FALSE,Active +GARD:3012,Active,Orphanet,ORPHA:981,Disorder,[Morphological anomaly],Internal carotid absence,,"Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography.",,,,,,Internal carotid agenesis,TRUE,FALSE,Active +GARD:3013,Active,Orphanet,ORPHA:2300,Disorder,[Morphological anomaly],Multiple intestinal atresia,[Familial intestinal polyatresia syndrome],"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.",[243150],,,,,Intestinal atresia multiple,TRUE,FALSE,Active +GARD:3017,Active,Orphanet+OMIM,OMIM:300048,Subtype of disorder,[Morphological anomaly subtype],"Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked","[ciip, x-linked, congenital idiopathic intestinal pseudoobstruction, Ipox, intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement]","Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion ({1:Auricchio et al., 1996}).\n\nSome primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy ({243180}) ({11:Tanner et al., 1976}).",[300048],[2301],[Congenital short bowel syndrome],[16592],,Intestinal pseudoobstruction neuronal chronic idiopathic X-linked,TRUE,FALSE,Active +GARD:3019,Legacy,GARD,,,,,,,,,,,,Intracranial aneurysms multiple congenital anomaly,TRUE,FALSE,Retired +GARD:302,Active,Orphanet,ORPHA:99749,Disorder,[Disease],Kostmann syndrome,"[Infantile agranulocytosis, Severe congenital neutropenia type 3]","Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.",[610738],,,,,Severe congenital neutropenia autosomal recessive 3,TRUE,FALSE,Active +GARD:3020,Active,Orphanet,ORPHA:46724,Disorder,[Morphological anomaly],Cerebral arteriovenous malformation,[Intracranial arteriovenous malformation],"Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.",[108010],,,,,Intracranial arteriovenous malformation,TRUE,FALSE,Active +GARD:3021,Legacy,GARD,,,,,,,,,,,,Intrathoracic kidney vertebral fusion,TRUE,FALSE,Retired +GARD:3022,Legacy,GARD,,,,,,,,,,,,Intrauterine growth retardation - mandibular malar hypoplasia,TRUE,FALSE,Retired +GARD:3023,Legacy,GARD,,,,,,,,,,,,Intrauterine infections,TRUE,FALSE,Retired +GARD:3024,Active,Orphanet,ORPHA:332,Disorder,[Disease],Congenital intrinsic factor deficiency,"[Congenital pernicious anemia, Gastric intrinsic factor deficiency, Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency, IFD, Intrinsic factor deficiency]",Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.,"[261000, 243320]",,,,,Intrinsic factor deficiency,TRUE,FALSE,Active +GARD:3025,Legacy,GARD,,,,,,,,,,,,Iodine antenatal exposure,TRUE,FALSE,Active +GARD:3026,Active,Orphanet+OMIM,OMIM:137600,Subtype of disorder,[Morphological anomaly subtype],Anterior segment dysgenesis 4,"[Iridogoniodysgenesis, type 2, iris hypoplasia with early-onset glaucoma, autosomal dominant, iridogoniodysgenesis syndrome]","Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {3:Cheong et al., 2016}).\n\nAnterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon ({5:Gould and John, 2002}).\n\nPatients with ASGD4 have been reported with iridogoniodysgenesis or Peters anomaly subtypes.\n\nIridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by {12:Mears et al., 1996}).\n\nPeters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea ({14:Peters, 1906}).",[137600],[91483],[Rieger anomaly],[16482],,Iridogoniodysgenesis type 2,TRUE,FALSE,Active +GARD:3027,Legacy,GARD,,,,,,,,,,,,Iris dysplasia hypertelorism deafness,TRUE,FALSE,Retired +GARD:3029,Legacy,GARD,,,,,,,,,,,,Ischiadic hypoplasia renal dysfunction immunodeficiency,TRUE,FALSE,Retired +GARD:303,Legacy,GARD,,,,,,,,,,,,Jeune syndrome situs inversus,TRUE,FALSE,Active +GARD:3030,Active,Orphanet,ORPHA:1509,Disorder,[Disease],Coxopodopatellar syndrome,"[Ischiopatellar dysplasia, SPS, Scott-Taor syndrome, Small patella syndrome]",Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.,[147891],,,,,Small patella syndrome,TRUE,FALSE,Active +GARD:3033,Active,Orphanet,ORPHA:472,Disorder,[Disease],Isosporiasis,[Cystoisosporiasis],"Isosporiasis (also known as cystoisosporiasis) is an exclusively human parasitosis occurring mainly in the tropics and subtropics, due to infection with Isospora belli (through ingestion of contaminated food), that is frequently asymptomatic or that can cause fever and diarrhea, but that is usually a self-limiting condition in the immunocompetent. HIV-positive individuals are particularly at risk of suffering from symptomatic isosporiasis and can manifest with a more severe clinical course of chronic diarrhea and severe weight loss.",,,,,,Cystoisosporiasis,TRUE,FALSE,Active +GARD:3036,Legacy,GARD,,,,,,,,,,,,Isthmian coarctation,TRUE,FALSE,Retired +GARD:304,Active,Orphanet,ORPHA:90340,Disorder,[Disease],Blau syndrome,,"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.",[186580],,,,,Blau syndrome,TRUE,FALSE,Active +GARD:3040,Legacy,GARD,,,,,,,,,,,,Jaffer Beighton syndrome,TRUE,FALSE,Active +GARD:3044,Legacy,GARD,,,,,,,,,,,,Jankovic Rivera syndrome,TRUE,FALSE,Retired +GARD:3045,Active,Orphanet,ORPHA:228349,Subtype of disorder,[Etiological subtype],CLN2 disease,"[Classic late infantile NCL, Classic late infantile neuronal ceroid lipofuscinosis]",,[204500],,,,,Neuronal ceroid lipofuscinosis 2,TRUE,FALSE,Active +GARD:3046,Legacy,GARD,,,,,,,,,,,,Jensen syndrome,TRUE,FALSE,Retired +GARD:3047,Active,Orphanet,ORPHA:93314,Disorder,[Disease],"Spondylometaphyseal dysplasia, Kozlowski type",,"Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.",[184252],,,,,"Spondylometaphyseal dysplasia, Kozlowski type",TRUE,FALSE,Active +GARD:3048,Active,Orphanet,ORPHA:90647,Disorder,[Disease],Jervell and Lange-Nielsen syndrome,"[Long QT interval-deafness syndrome, Long QT interval-hearing loss syndrome]","A rare, severe, familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias.","[220400, 612347]",,,,,Jervell Lange-Nielsen syndrome,TRUE,FALSE,Active +GARD:3049,Active,Orphanet,ORPHA:474,Disorder,[Malformation syndrome],Jeune syndrome,"[Asphyxiating thoracic dystrophy of the newborn, JATD, Jeune asphyxiating thoracic dystrophy]","Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes.","[611263, 616300, 615633, 615630, 613819, 208500, 613091, 617088, 614376]",,,,,Jeune syndrome,TRUE,FALSE,Active +GARD:305,Active,Orphanet,ORPHA:3236,Disorder,[Malformation syndrome],Conductive deafness-ptosis-skeletal anomalies syndrome,"[Conductive hearing loss-ptosis-skeletal anomalies syndrome, Jackson-Barr syndrome]","Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.",[221320],,,,,Deafness conductive ptosis skeletal anomalies,TRUE,FALSE,Active +GARD:3050,Legacy,GARD,,,,,,,,,,,,Johnson Hall Krous syndrome,TRUE,FALSE,Retired +GARD:3051,Active,Orphanet,ORPHA:1112,Disorder,[Malformation syndrome],Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,[Johnson-Munson syndrome],"An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.",[207620],,,,,Johnson Munson syndrome,TRUE,FALSE,Active +GARD:3053,Active,Orphanet,ORPHA:1485,Disorder,[Malformation syndrome],"Arthrogryposis-hyperkeratosis syndrome, lethal form",[Johnston-Aarons-Schelley syndrome],"A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.",[208158],,,,,Johnston Aarons Schelley syndrome,TRUE,FALSE,Active +GARD:3054,Active,Orphanet,ORPHA:2295,Disorder,[Disease],Familial articular hypermobility syndrome,"[Familial joint instability syndrome, Familial joint laxity, Joint instability syndrome]","A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent.",[147900],,,,,Familial joint instability syndrome,TRUE,FALSE,Active +GARD:3055,Legacy,GARD,,,,,,,,,,,,Jones Hersh Yusk syndrome,TRUE,FALSE,Active +GARD:3056,Active,Orphanet,ORPHA:2027,Disorder,[Malformation syndrome],Gingival fibromatosis-progressive deafness syndrome,"[Gingival fibromatosis-progressive hearing loss syndrome, Jones syndrome]","A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.",[135550],,,,,Jones syndrome,TRUE,FALSE,Active +GARD:3057,Legacy,GARD,,,,,,,,,,,,Jorgenson Lenz syndrome,TRUE,FALSE,Active +GARD:306,Active,Orphanet,ORPHA:2848,Disorder,[Disease],Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,"[Arthropathy-camptodactyly syndrome, CACP syndrome, Jacobs syndrome, Pericarditis-arthropathy-camptodactyly syndrome]","A rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.",[208250],,,,,Camptodactyly arthropathy coxa vara pericarditis syndrome,TRUE,FALSE,Active +GARD:3060,Active,Orphanet,ORPHA:2319,Disorder,[Malformation syndrome],Juberg-Hayward syndrome,"[Cleft lip/palate-abnormal thumbs-microcephaly syndrome, Orocraniodigital syndrome]","Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.",[216100],,,,,Juberg-Hayward syndrome,TRUE,FALSE,Active +GARD:3061,Legacy,GARD,,,,,,,,,,,,Judge Misch Wright syndrome,TRUE,FALSE,Active +GARD:3062,Active,Orphanet,ORPHA:2321,Disorder,[Malformation syndrome],Jung syndrome,,"A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.",[601427],,,,,Jung Wolff Back Stahl syndrome,TRUE,FALSE,Active +GARD:3065,Active,Orphanet,ORPHA:2929,Disorder,[Disease],Juvenile polyposis syndrome,"[JIP, JPS, Juvenile gastrointestinal polyposis, Juvenile intestinal polyposis]",A rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.,"[175050, 174900, 612242]",,,,,Juvenile polyposis syndrome,TRUE,FALSE,Active +GARD:3066,Active,Orphanet,ORPHA:1573,Disorder,[Malformation syndrome],Hypotrichosis with juvenile macular degeneration,"[HJMD, Hypotrichosis with juvenile macular dystrophy]",Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.,[601553],,,,,Juvenile macular degeneration and hypotrichosis,TRUE,FALSE,Active +GARD:3067,Legacy,GARD,,,,,,,,,,,,Juvenile idiopathic arthritis,FALSE,FALSE,Active +GARD:3068,Active,Orphanet,ORPHA:26137,Disorder,[Disease],Juvenile temporal arteritis,"[JTA, Non-giant cell granulomatous temporal arteritis with eosinophilia]","Juvenile temporal arteritis (JTA) is an extremely uncommon vasculitis of unknown etiology. Eleven documented cases have been reported in the literature, affecting older children and young adults. In contrast to the classic form of temporal arteritis, it is not a systemic disease nor does it cause local symptoms at the temporal area. The term JTA was coined by Lie and his colleagues, in 1975, when they reported four cases of an otherwise asymptomatic disease presenting with a painless nodule at the temporal region. None of the cases showed evidence of systemic disease or history of trauma to the temporal region. Excisional biopsy of the lesions revealed a non-giant cell granulomatous inflammation of the temporal arteries with eosinophilic infiltration, intimal proliferation and microaneurysmal disruption of the media. JTA has a benign clinical course, is treated by surgical excision and does not recur.",,,,,,Juvenile temporal arteritis,TRUE,FALSE,Active +GARD:307,Active,Orphanet,ORPHA:2308,Disorder,[Malformation syndrome],Jacobsen syndrome,"[11q terminal deletion syndrome, Del(11)(q23.3), Del(11)(qter), Distal deletion 11q, Distal monosomy 11q, Monosomy 11qter, Telomeric deletion 11q]","A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.",[147791],,,,,Jacobsen syndrome,TRUE,FALSE,Active +GARD:3070,Active,Orphanet+OMIM,OMIM:147950,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 2 with or without anosmia,[Kallmann syndrome 2],"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {34:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nAlthough HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction ({44:Sykiotis et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without Anosmia\n\nOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 ({244200}), caused by mutation in the PROKR2 gene ({607123}); HH4 ({610628}), caused by mutation in the PROK2 gene ({607002}); HH5 ({612370}), caused by mutation in the CHD7 gene ({608892}); HH6 ({612702}), caused by mutation in the FGF8 gene ({600483}); HH7 ({146110}), caused by mutation in the GNRHR gene ({138850}); HH8 ({614837}), caused by mutation in the KISS1R gene ({604161}); HH9 ({614838}), caused by mutation in the NELF gene ({608137}); HH10 ({614839}), caused by mutation in the TAC3 gene ({162330}); HH11 ({614840}), caused by mutation in the TACR3 gene ({162332}); HH12 ({614841}), caused by mutation in the GNRH1 gene ({152760}); HH13 ({614842}), caused by mutation in the KISS1 gene ({603286}); HH14 ({614858}), caused by mutation in the WDR11 gene ({606417}); HH15 ({614880}), caused by mutation in the HS6ST1 gene ({604846}); HH16 ({614897}), caused by mutation in the SEMA3A gene ({603961}); HH17 ({615266}), caused by mutation in the SPRY4 gene ({607984}); HH18 ({615267}), caused by mutation in the IL17RD gene ({606807}); HH19 ({615269}), caused by mutation in the DUSP6 gene ({602748}); HH20 ({615270}), caused by mutation in the FGF17 gene ({603725}); HH21 ({615271}), caused by mutation in the FLRT3 gene ({604808}); HH22 ({616030}), caused by mutation in the FEZF1 gene ({613301}); HH23 ({228300}), caused by mutation in the LHB gene ({152780}); HH24 ({229070}), caused by mutation in the FSHB gene ({136530}); HH25 ({618841}), caused by mutation in the NDNF gene ({616506}); and HH26 ({619718}), caused by mutation in the TCF12 gene.\n\nThere is also an X-linked form of the disorder (HH1; {308700}), caused by mutation in the KAL1 gene ({300836}).\n\nThere is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by {8:Chan, 2011}). {44:Sykiotis et al. (2010)}, for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.\n\n<Subhead> Reviews\n\n{49:Valdes-Socin et al. (2014)} reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.\n\n{54:Young et al. (2019)} reviewed the genetics, diagnosis, and clinical management of patients with congenital hypogonadotropic hypogonadism.",[147950],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 2,TRUE,FALSE,Active +GARD:3071,Active,Orphanet+OMIM,OMIM:308700,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 1 with or without anosmia,"[anosmic hypogonadism, dysplasia olfactogenitalis of de morsier, kms, hypogonadotropic hypogonadism and anosmia, Kallmann syndrome 1]","Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {38:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'\n\nFor information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[308700],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 1,TRUE,FALSE,Active +GARD:3073,Active,Orphanet+OMIM,OMIM:244200,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 3 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {4:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[244200],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 3,TRUE,FALSE,Active +GARD:3074,Active,Orphanet,ORPHA:1836,Disorder,[Malformation syndrome],"Mesomelic dysplasia, Kantaputra type","[Kantaputra mesomelic dysplasia, MDK, Mesomelic dysplasia, Thai type]",Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.,"[613681, 156232]",,,,,Mesomelic dysplasia Kantaputra type,TRUE,FALSE,Active +GARD:3075,Active,Orphanet,ORPHA:949,Disorder,[Malformation syndrome],Acrocraniofacial dysostosis,[Kaplan-Plauchu-Fitch syndrome],"A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.",[201050],,,,,Kaplan Plauchu Fitch syndrome,TRUE,FALSE,Active +GARD:3076,Legacy,GARD,,,,,,,,,,,,Kaplowitz Bodurtha syndrome,TRUE,FALSE,Retired +GARD:3077,Active,Orphanet,ORPHA:2122,Disorder,[Disease],Kaposiform hemangioendothelioma,,A rare low-grade malignant cutaneous or visceral vascular tumour that may be associated with severe thrombopaenia with consumption coagulopathy (Kasabach-Merritt syndrome) in pediatric patients.,,,,,,Kaposiform Hemangioendothelioma,TRUE,FALSE,Active +GARD:3078,Active,Orphanet,ORPHA:2328,Disorder,[Malformation syndrome],Kapur-Toriello syndrome,"[Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome]","Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.",[244300],,,,,Kapur Toriello syndrome,TRUE,FALSE,Active +GARD:308,Legacy,GARD,,,,,,,,,,,,Pachyonychia congenita type 1,TRUE,FALSE,Retired +GARD:3080,Legacy,GARD,,,,,,,,,,,,Kasznica Carlson Coppedge syndrome,TRUE,FALSE,Active +GARD:3081,Legacy,GARD,,,,,,,,,,,,Katsantoni Papadakou Lagoyanni syndrome,TRUE,FALSE,Active +GARD:3082,Legacy,GARD,,,,,,,,,,,,"Short stature, cranial hyperostosis, hepatomegaly and diabetes",TRUE,FALSE,Retired +GARD:3084,Active,Orphanet,ORPHA:2707,Disorder,[Malformation syndrome],"Oculocerebrofacial syndrome, Kaufman type",,"A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities.",[244450],,,,,Kaufman oculocerebrofacial syndrome,TRUE,FALSE,Active +GARD:3086,Active,Orphanet,ORPHA:991,Disorder,[Malformation syndrome],PAGOD syndrome,[Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome],"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.",[202660],,,,,PAGOD syndrome,TRUE,FALSE,Active +GARD:3087,Legacy,GARD,,,,,,,,,,,,Kennerknecht Vogel syndrome,TRUE,FALSE,Retired +GARD:3089,Active,Orphanet,ORPHA:2334,Disorder,[Disease],Autosomal dominant keratitis,[Hereditary keratitis],"Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.",[148190],,,,,Hereditary keratitis,TRUE,FALSE,Active +GARD:309,Legacy,GARD,,,,,,,,,,,,Fibromatosis multiple non ossifying,TRUE,FALSE,Active +GARD:3090,Active,Orphanet,ORPHA:65748,Disorder,[Disease],Multiple self-healing squamous epithelioma,"[Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type, Ferguson-Smith disease, MSSE, Multiple keratoacanthoma, Ferguson-Smith type, Self-healing squamous epithelioma type 1]",Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.,[132800],,,,,Multiple self healing squamous epithelioma,TRUE,FALSE,Active +GARD:3091,Legacy,GARD,,,,,,,,,,,,Keratoconus posticus circumscriptus,TRUE,FALSE,Active +GARD:3092,Active,Orphanet,ORPHA:494,Disorder,[Disease],Keratoderma hereditarium mutilans,"[Mutilating keratoderma of Vohwinkel, Mutilating keratoderma plus deafness, Mutilating keratoderma plus hearing loss, PPK mutilans and deafness, PPK mutilans and hearing loss, Vohwinkel syndrome]","Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.",[124500],,,,,Vohwinkel syndrome,TRUE,FALSE,Active +GARD:3094,Active,Orphanet,ORPHA:2202,Disorder,[Disease],Palmoplantar keratoderma-deafness syndrome,"[PPK-deafness syndrome, Palmoplantar hyperkeratosis-deafness syndrome, Palmoplantar hyperkeratosis-hearing loss syndrome, Palmoplantar keratoderma-hearing loss syndrome]","Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.",[148350],,,,,Keratoderma palmoplantar deafness,TRUE,FALSE,Active +GARD:3095,Active,Orphanet,ORPHA:2201,Disorder,[Disease],Palmoplantar keratoderma-spastic paralysis syndrome,"[Palmoplantar hyperkeratosis-spastic paralysis syndrome, Powell-Venencie-Gordon syndrome]","A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.",[148360],,,,,Keratoderma palmoplantar spastic paralysis,TRUE,FALSE,Active +GARD:3096,Active,Orphanet,ORPHA:495,Disorder,[Disease],Transgrediens et progrediens palmoplantar keratoderma,"[Greither disease, Keratosis extremitatum hereditaria progrediens, Keratosis palmoplantaris transgrediens et progrediens, Progressive diffuse PPK, Progressive diffuse palmoplantar keratoderma, Transgrediens et progrediens PPK]","A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles' tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen.",[133200],,,,,Keratoderma palmoplantaris transgrediens,TRUE,FALSE,Active +GARD:3098,Active,Orphanet,ORPHA:2200,Disorder,[Disease],Focal palmoplantar and gingival keratoderma,[Focal palmoplantar and gingival hyperkeratosis],"Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.",[148730],,,,,Focal palmoplantar and gingival keratoderma,TRUE,FALSE,Active +GARD:3099,Active,Orphanet,ORPHA:2339,Disorder,[Malformation syndrome],Keratosis follicularis-dwarfism-cerebral atrophy syndrome,,"A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.",[308830],,,,,Keratosis follicularis dwarfism and cerebral atrophy,TRUE,FALSE,Active +GARD:31,Active,Orphanet,ORPHA:35686,Disorder,[Disease],Serpiginous choroiditis,[Geographic helicoid peripapillary choroidopathy],"A rare non-infectious posterior uveitis characterized by usually bilateral, chronic, progressive, recurrent inflammation of the choroid, retinal pigment epithelium, and choriocapillaris. In the classic or peripapillary geographic type of the disease, infiltrates originating in the peripapillary region progress in an irregular serpentine fashion centrifugally and resolve spontaneously after several weeks, leaving atrophic scars. Multiple recurrences, often with months to years of quiescence in between, result in progressive visual loss in one or both eyes.",,,,,,Serpiginous choroiditis,TRUE,FALSE,Active +GARD:310,Active,Orphanet,ORPHA:3474,Disorder,[Malformation syndrome],CHIME syndrome,"[Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome, Congenital disorder of glycosylation due to PIGL deficiency, Neuroectodermal dysplasia, CHIME type, Neuroectodermal syndrome, Zunich type, PIGL-CDG, Zunich-Kaye syndrome]","CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.",[280000],,,,,Zunich neuroectodermal syndrome,TRUE,FALSE,Active +GARD:3100,Active,Orphanet,ORPHA:678,Disorder,[Disease],Papillon-Lefèvre syndrome,"[Keratosis palmoplantar-periodontopathy syndrome, PLS]",Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.,[245000],,,,,Papillon Lefevre syndrome,TRUE,FALSE,Active +GARD:3101,Legacy,GARD,,,,,,,,,,,,Keratosis palmoplantaris adenocarcinoma of the colon,TRUE,FALSE,Retired +GARD:3102,Active,Orphanet,ORPHA:2198,Disorder,[Disease],Palmoplantar keratoderma-esophageal carcinoma syndrome,"[Bennion-Patterson syndrome, Howell-Evans syndrome, Keratosis palmoplantaris-esophageal carcinoma syndrome, Palmoplantar hyperkeratosis-esophageal carcinoma syndrome, Tylosis-oesophageal carcinoma syndrome]","A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection.",[148500],,,,,Tylosis with esophageal cancer,TRUE,FALSE,Active +GARD:3103,Active,Orphanet,ORPHA:79501,Disorder,[Disease],Punctate palmoplantar keratoderma type 1,"[Buschke-Fischer-Brauer syndrome, Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type, PPKP1]","Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..","[614936, 148600]",,,,,Punctate palmoplantar keratoderma type I,TRUE,FALSE,Active +GARD:3105,Active,Orphanet,ORPHA:28378,Disorder,[Disease],Tyrosinemia type 2,"[Keratosis palmoplantaris-corneal dystrophy syndrome, Oculocutaneous tyrosinemia, Richner-Hanhart syndrome, Tyrosinemia due to TAT deficiency, Tyrosinemia due to tyrosine aminotransferase deficiency, Tyrosinemia type II]","Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.",[276600],,,,,Tyrosinemia type 2,TRUE,FALSE,Active +GARD:3108,Legacy,GARD,,,,,,,,,,,,Seborrheic keratosis,FALSE,FALSE,Active +GARD:3109,Active,Orphanet,ORPHA:499,Disorder,[Disease],Kerion celsi,,"A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.",,,,,,Kerion celsi,TRUE,FALSE,Active +GARD:311,Legacy,GARD,,,,,,,,,,,,Saal Bulas syndrome,TRUE,FALSE,Active +GARD:3112,Active,Orphanet,ORPHA:98841,Disorder,[Disease],Anaplastic large cell lymphoma,"[ALCL, CD30 positive anaplastic large cell lymphoma, Ki-1 positive anaplastic large cell lymphoma, Primary systemic ALCL, sACL]","A rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.",,,,,,Anaplastic large cell lymphoma,TRUE,FALSE,Active +GARD:3113,Active,Orphanet,ORPHA:477,Disorder,[Disease],KID syndrome,"[Ichthyosis hystrix Rheydt type, KID/HID syndrome, Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome, Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome, Senter syndrome]","A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.","[602540, 148210, 242150]",,,,,KID syndrome,TRUE,FALSE,Active +GARD:3115,Legacy,GARD,,,,,,,,,,,,Kleeblattschaedel syndrome,TRUE,FALSE,Active +GARD:3117,Active,Orphanet,ORPHA:33543,Disorder,[Disease],Kleine-Levin syndrome,,Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.,[148840],,,,,Kleine Levin syndrome,TRUE,FALSE,Active +GARD:3118,Active,Orphanet,ORPHA:2110,Disorder,[Malformation syndrome],Hallux varus-preaxial polysyndactyly syndrome,[Kleiner-Holmes syndrome],"Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.",[234280],,,,,Kleiner Holmes syndrome,TRUE,FALSE,Active +GARD:312,Active,Orphanet,ORPHA:97360,Disorder,[Malformation syndrome],Robinow syndrome,"[Acral dysostosis with facial and genital abnormalities, Fetal face syndrome, Mesomelic dwarfism-small genitalia syndrome, Robinow dwarfism, Robinow-Silverman-Smith syndrome]","Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.","[268310, 616331, 616894, 180700]",,,,,Robinow syndrome,TRUE,FALSE,Active +GARD:3122,Active,Orphanet,ORPHA:2346,Group of disorders,[Clinical group],Angioosteohypertrophic syndrome,[Klippel-Trénaunay-Weber syndrome],"A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.","[608354, 149000]",,,,,Klippel-Trenaunay syndrome,TRUE,FALSE,Active +GARD:3123,Legacy,GARD,,,,,,,,,,,,Klumpke paralysis,TRUE,FALSE,Active +GARD:3124,Active,Orphanet,ORPHA:2347,Disorder,[Malformation syndrome],Lethal Kniest-like dysplasia,,"A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.",[245190],,,,,Kniest like dysplasia lethal,TRUE,FALSE,Active +GARD:3125,Active,Orphanet,ORPHA:2698,Disorder,[Disease],Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,"[Bart-Pumphrey syndrome, Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome, Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome, Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome]","A rare, syndromic genetic deafness disease characterized by symmetric or asymmetirc knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.",[149200],,,,,"Knuckle pads, leuconychia and sensorineural deafness",TRUE,FALSE,Active +GARD:3126,Active,Orphanet,ORPHA:2348,Disorder,[Disease],"Familial partial lipodystrophy, Dunnigan type","[Dunnigan syndrome, FPLD2, Familial partial lipodystrophy type 2]","A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.",[151660],,,,,Familial partial lipodystrophy type 2,TRUE,FALSE,Active +GARD:3128,Active,Orphanet,ORPHA:1946,Disorder,[Malformation syndrome],Amelocerebrohypohidrotic syndrome,"[Epilepsy-dementia-amelogenesis imperfecta syndrome, Kohlschütter-Tönz syndrome]","A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.",[226750],,,,,Kohlschutter Tonz syndrome,TRUE,FALSE,Active +GARD:3129,Active,Orphanet,ORPHA:3197,Disorder,[Disease],Hereditary hyperekplexia,"[Congenital stiff man syndrome, Familial startle disease, Hereditary hyperexplexia, Kok disease, Stiff baby syndrome]",Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.,"[149400, 618011, 614618, 614619]",,,,,Hereditary hyperekplexia,TRUE,FALSE,Active +GARD:313,Legacy,GARD,,,,,,,,,,,,Sabinas brittle hair syndrome,TRUE,FALSE,Active +GARD:3130,Legacy,GARD,,,,,,,,,,,,Konigsmark Knox Hussels syndrome,TRUE,FALSE,Retired +GARD:3131,Legacy,GARD,,,,,,,,,,,,Koone Rizzo Elias syndrome,TRUE,FALSE,Active +GARD:3134,Legacy,GARD,,,,,,,,,,,,Kotzot-Richter syndrome,TRUE,FALSE,Active +GARD:3136,Legacy,GARD,,,,,,,,,,,,Kozlowski Brown Hardwick syndrome,TRUE,FALSE,Active +GARD:3137,Legacy,GARD,,,,,,,,,,,,Kozlowski Celermajer Tink syndrome,TRUE,FALSE,Retired +GARD:3139,Legacy,GARD,,,,,,,,,,,,Kozlowski Ouvrier syndrome,TRUE,FALSE,Active +GARD:314,Active,Orphanet,ORPHA:3124,Disorder,[Disease],Saccharopinuria,"[Hyperlysinemia type II, Saccharopine dehydrogenase deficiency]",Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.,[268700],,,,,Saccharopinuria,TRUE,FALSE,Active +GARD:3140,Legacy,GARD,,,,,,,,,,,,Kozlowski Rafinski Klicharska syndrome,TRUE,FALSE,Active +GARD:3141,Active,Orphanet,ORPHA:3082,Disorder,[Malformation syndrome],Intellectual disability-polydactyly-uncombable hair syndrome,[Kozlowski-Krajewska syndrome],"Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.",,,,,,Kozlowski-Krajewska syndrome,TRUE,FALSE,Active +GARD:3143,Legacy,GARD,,,,,,,,,,,,Krauss Herman Holmes syndrome,TRUE,FALSE,Active +GARD:3144,Legacy,GARD,,,,,,,,,,,,Krieble Bixler syndrome,TRUE,FALSE,Active +GARD:3149,Legacy,GARD,,,,,,,,,,,,Kurczynski Casperson syndrome,TRUE,FALSE,Retired +GARD:315,Legacy,GARD,,,,,,,,,,,,Sackey Sakati Aur syndrome,TRUE,FALSE,Active +GARD:3150,Active,Orphanet,ORPHA:1149,Disorder,[Malformation syndrome],Kuskokwim syndrome,"[Arthrogryposis-like syndrome, Kuskokwim disease]","A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.",[259450],,,,,Kuskokwim disease,TRUE,FALSE,Active +GARD:3151,Legacy,GARD,,,,,,,,,,,,Kuster Majewski Hammerstein syndrome,TRUE,FALSE,Retired +GARD:3152,Legacy,GARD,,,,,,,,,,,,Kuster syndrome,TRUE,FALSE,Active +GARD:3157,Legacy,GARD,,,,,,,,,,,,Lachiewicz Sibley syndrome,TRUE,FALSE,Active +GARD:3159,Active,Orphanet,ORPHA:2364,Disorder,[Disease],Glycogen storage disease due to lactate dehydrogenase deficiency,"[GSD due to lactate dehydrogenase deficiency, Glycogenosis due to lactate dehydrogenase deficiency, LDH deficiency]","A rare genetic glycogen storage disease characterized by either lactate dehydrogenase (LDH) M- or H-subunit deficiency. Main features of LDH M-subunit deficiency are exertional fatigue and muscle pain potentially accompanied by myoglobinuria. Some patients may develop pustular psoriasis-like skin lesions. Complications of pregnancy, such as frequent abdominal pains and increased uterine tone with a risk of dystocia have also been described. LDH H-subunit deficiency manifests with low serum LDH activity of unclear clinical relevance.","[612933, 614128]",,,,,Lactate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:3160,Active,Orphanet,ORPHA:284426,Subtype of disorder,[Clinical subtype],Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,"[GSD due to lactate dehydrogenase M-subunit deficiency, Glycogenosis due to lactate dehydrogenase M-subunit deficiency, LDH-M subunit deficiency, Lactate dehydrogenase A deficiency]","A rare glycogen storage disease characterized by easy fatigue, exertional myalgia, painful muscle stiffness, and cramps, with or without myoglobinuria. Pustular psoriasis-like eruptions with antecedent annular scaly plaques may be observed in some patients. In affected women, pregnancy may be complicated by abdominal pain and dystocia.",[612933],,,,,Lactate dehydrogenase A deficiency,TRUE,FALSE,Active +GARD:3161,Active,Orphanet,ORPHA:284435,Subtype of disorder,[Clinical subtype],Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,"[GSD due to lactate dehydrogenase H-subunit deficiency, Glycogenosis due to lactate dehydrogenase H-subunit deficiency, LDH-H subunit deficiency, Lactate dehydrogenase B deficiency]",,[614128],,,,,Lactate dehydrogenase B deficiency,TRUE,FALSE,Active +GARD:3162,Legacy,GARD,,,,,,,,,,,,Lactate dehydrogenase deficiency type C,TRUE,FALSE,Retired +GARD:3163,Active,Orphanet,ORPHA:17,Disorder,[Disease],Fatal infantile lactic acidosis with methylmalonic aciduria,,"Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.",[245400],,,,,Lactic acidosis congenital infantile,TRUE,FALSE,Active +GARD:3167,Legacy,GARD,,,,,,,,,,,,Lagophthalmia cleft lip palate,TRUE,FALSE,Retired +GARD:3168,Legacy,GARD,,,,,,,,,,,,Lambdoid synostosis,TRUE,FALSE,Active +GARD:3169,Active,Orphanet,ORPHA:1296,Disorder,[Malformation syndrome],Lambert syndrome,[Branchial dysplasia-intellectual disability-inguinal hernia syndrome],"A very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.",[245550],,,,,Lambert syndrome,TRUE,FALSE,Active +GARD:317,Legacy,GARD,,,,,,,,,,,,Sacral hemangiomas multiple congenital abnormalities,TRUE,FALSE,Active +GARD:3170,Active,Orphanet+OMIM,OMIM:242300,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 1","[lamellar exfoliation of newborn, collodion fetus, Ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution, ichthyosis congenita ii, collodion baby, self-healing, ichthyosis congenita, desquamation of newborn, ichthyosis, lamellar, 1, formerly]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {17:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({32:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {16:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {26:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {14:Eckl et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Congenital Ichthyosis\n\nAutosomal recessive congenital ichthyosis-2 (ARCI2; {242100}) is caused by mutation in the ALOX12B gene ({603741}) on chromosome 17p13. ARCI3 ({606545}) is caused by mutation in the ALOXE3 gene ({607206}) on chromosome 17p13. ARCI4A ({601277}) and ARCI4B (harlequin ichthyosis; {242500}) are caused by mutation in the ABCA12 gene ({607800}) on chromosome 2q35. ARCI5 ({604777}) is caused by mutation in the CYP4F22 gene ({611495}) on chromosome 19p13. ARCI6 ({612281}) is caused by mutation in the NIPAL4 gene (ichthyin; {609383}) on chromosome 5q33. ARCI7 ({615022}) has been mapped to chromosome 12p11. ARCI8 ({613943}) is caused by mutation in the LIPN gene ({613924}) on chromosome 10q23. ARCI9 ({615023}) is caused by mutation in the CERS3 gene ({615276}) on chromosome 15q26. ARCI10 ({615024}) is caused by mutation in the PNPLA1 gene ({612121}) on chromosome 6p21. ARCI11 ({602400}) is caused by mutation in the ST14 gene ({606797}) on chromosome 11q24. ARCI12 ({617320}) is caused by mutation in the CASP14 gene ({605848}) on chromosome 19p13. ARCI13 ({617574}) is caused by mutation in the SDR9C7 gene ({609769}) on chromosome 12q13. ARCI14 ({617571}) is caused by mutation in the SULT2B1 gene ({604125}) on chromosome 19q13.\n\nIchthyosis prematurity syndrome ({608649}) is a self-improving form of ichthyosis that includes respiratory complications at birth and persistent eosinophilia and is caused by mutation in the FATP4 (SLC27A4; {604194}) gene. A rare syndromic form of NCIE, Chanarin-Dorfman syndrome ({275630}), is caused by mutation in the ABHD5 gene ({604780}).",[242300],[313],[Lamellar ichthyosis],[10803],,Ichthyosis lamellar 1,TRUE,FALSE,Active +GARD:3172,Legacy,GARD,,,,,,,,,,,,Landy-Donnai syndrome,TRUE,FALSE,Active +GARD:3174,Legacy,GARD,,,,,,,,,,,,Langer Nishino Yamaguchi syndrome,TRUE,FALSE,Active +GARD:3176,Legacy,GARD,,,,,,,,,,,,Laparoschisis,TRUE,FALSE,Retired +GARD:3177,Legacy,GARD,,,,,,,,,,,,Laplane Fontaine Lagardere syndrome,TRUE,FALSE,Retired +GARD:3178,Active,Orphanet,ORPHA:544,Group of disorders,[Clinical group],Diffuse large B-cell lymphoma,[DLBCL],"Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL; see this term) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.",,,,,,Diffuse Large B-Cell Lymphoma,TRUE,FALSE,Active +GARD:3181,Active,Orphanet,ORPHA:2371,Disorder,[Malformation syndrome],Lethal Larsen-like syndrome,,"A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.",[245650],,,,,Larsen-like syndrome,TRUE,FALSE,Active +GARD:3183,Legacy,GARD,,,,,,,,,,,,"Larsen syndrome, dominant type",TRUE,FALSE,Retired +GARD:3184,Legacy,GARD,,,,,,,,,,,,"Larsen syndrome, recessive type",TRUE,FALSE,Retired +GARD:3186,Legacy,GARD,,,,,,,,,,,,Laryngeal abductor paralysis mental retardation,TRUE,FALSE,Retired +GARD:3188,Active,Orphanet,ORPHA:2004,Disorder,[Morphological anomaly],Laryngotracheoesophageal cleft,"[LC, LTEC, Laryngo-tracheo-esophageal cleft, Laryngo-tracheo-esophageal diastema]","A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.",[215800],,,,,Laryngeal cleft,TRUE,FALSE,Active +GARD:319,Active,Orphanet,ORPHA:494421,Subtype of disorder,[Clinical subtype],Sacrococcygeal teratoma,,,,,,,,Sacrococcygeal Teratoma,TRUE,FALSE,Active +GARD:3191,Active,Orphanet,ORPHA:2372,Disorder,[Malformation syndrome],Laryngocele,,"A rare congenital laryngeal anomaly characterized by an abnormal dilation of the laryngeal saccule that is filled with air, maintains communication with the laryngeal lumen, and is either confined to the false vocal fold or extends upward, protruding through the thyrohyoid membrane to the neck. Symptoms may include cough, hoarseness, stridor, sore throat and uni- or bilateral swelling of the neck. Blockage of the laryngocele neck can result isn laryngomucocele, and forms laryngopyocele when infected.",,,,,,Laryngocele,TRUE,FALSE,Active +GARD:3192,Legacy,GARD,,,,,,,,,,,,"Larynx, congenital partial atresia of",TRUE,FALSE,Active +GARD:3194,Active,Orphanet,ORPHA:1202,Disorder,[Malformation syndrome],Larynx atresia,,"A rare larynx anomaly characterized by complete absence of the laryngeal lumen resulting in congenital upper airway obstruction syndrome which, without fetal or neonatal intervention, is incompatible with life. Fetal sonography shows a dilated trachea, hyperechoic lungs, pleural effusion, minimal fetal abdominal ascites or hydrops, and amniotic fluid abnormalities.",[150300],,,,,Larynx atresia,TRUE,FALSE,Active +GARD:3195,Active,Orphanet,ORPHA:505,Disorder,[Disease],Graham Little-Piccardi-Lassueur syndrome,"[Graham Little syndrome, Piccardi-Lassueur-Little syndrome]","A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.",,,,,,Graham-Little-Piccardi-Lassueur syndrome,TRUE,FALSE,Active +GARD:3196,Active,Orphanet+OMIM,OMIM:180020,Subtype of disorder,[Disease subtype],Retinal cone dystrophy 1,,"{5:Krill et al. (1973)} defined an autosomal dominant form of diffuse cone degeneration. The findings of electroretinogram were distinctive. Progressive loss of visual acuity, photophobia, and defective color vision are the major complaints. Unlike retinitis pigmentosa ({180100}), loss of side vision and night blindness are rare complaints. The most common macular lesion has a bull's eye appearance produced by a central area of uninvolved epithelium. {5:Krill et al. (1973)} published pedigrees of extensively affected families. The patients may be mislabelled as total colorblindness. {1:Berson et al. (1968)}, {2:Davis and Hollenhorst (1955)}, {6:Sloan and Brown (1962)}, and others have reported families. {8:Warburg (1989)} reasoned that patients with mental retardation and retinal cone dystrophy might have visible chromosomal abnormalities. From the study of such patients and correlations with patients previously reported, {8:Warburg (1989)} concluded that a gene that causes retinal cone dystrophy is located in the region 6q25-q26. {7:Tranebjaerg et al. (1986)} described the case of a 6-year-old boy with cone dystrophy, mental retardation, facial dysmorphism, and short neck, hands and feet in whom a t(1;6)(q44;q27) was identified. This was said to be the first description of retinal cone dystrophy with a chromosomal aberration.\n\n{9:Went et al. (1992)} described an autosomal dominant cone dystrophy spanning 7 generations in a Dutch family. The onset of decline of visual acuity was after age 20; a nearly complete absence of blue-cone function developed before any abnormalities in visual acuity were detected by funduscopy, ERG, visual fields or fluorescein angiography.\n\nIn 10 patients with cone dystrophy, {3:Holopigian et al. (2004)} evaluated rod and cone photoreceptor function. Five of the patients were from a family with autosomal dominant cone dystrophy; the other 5 patients had no family history of cone dystrophy and were not related. Full-field ERG revealed that most of the patients had abnormal cone photoreceptor function. Some patients also showed rod photoreceptor abnormalities. The rod system changes were smaller than the cone system changes.\n\n{4:Kondo et al. (2004)} described a form of cone dystrophy which the peripheral cone system was more affected than the central cone system, and whose rod system was relatively normal ({609021}).",[180020],[1871],[Progressive cone dystrophy],[11897],,Retinal cone dystrophy 1,TRUE,FALSE,Active +GARD:3197,Legacy,GARD,,,,,,,,,,,,Lateral body wall defect,TRUE,FALSE,Retired +GARD:3198,Legacy,GARD,,,,,,,,,,,,Laterality defects dominant,TRUE,FALSE,Active +GARD:320,Active,Orphanet,ORPHA:2256,Disorder,[Malformation syndrome],Fibulo-ulnar hypoplasia-renal anomalies syndrome,[Saito-Kuba-Tsuruta syndrome],"Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.",[228940],,,,,Saito Kuba Tsuruta syndrome,TRUE,FALSE,Active +GARD:3201,Legacy,GARD,,,,,,,,,,,,Laurence Prosser Rocker syndrome,TRUE,FALSE,Retired +GARD:3203,Active,Orphanet,ORPHA:2379,Disorder,[Disease],Early-onset parkinsonism-intellectual disability syndrome,"[Laxova-Opitz syndrome, Waisman syndrome]","A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.",[311510],,,,,Early-onset parkinsonism-intellectual disability syndrome,TRUE,FALSE,Active +GARD:321,Active,Orphanet,ORPHA:2613,Disorder,[Disease],Nail-patella-like renal disease,[Salcedo syndrome],"A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils.",[256020],,,,,Salcedo syndrome,TRUE,FALSE,Active +GARD:3211,Legacy,GARD,,,,,,,,,,,,Leber miliary aneurysm,TRUE,FALSE,Retired +GARD:3212,Active,Orphanet,ORPHA:1297,Disorder,[Malformation syndrome],Branchio-oculo-facial syndrome,[BOFS],"A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.",[113620],,,,,Branchiooculofacial syndrome,TRUE,FALSE,Active +GARD:3214,Legacy,GARD,,,,,,,,,,,,Leg absence deformity cataract,TRUE,FALSE,Active +GARD:3218,Legacy,GARD,,,,,,,,,,,,Leiomyomatosis familial,TRUE,FALSE,Retired +GARD:3219,Legacy,GARD,,,,,,,,,,,,"Leiomyomatosis of esophagus, cataract and hematuria",TRUE,FALSE,Active +GARD:322,Active,Orphanet,ORPHA:3156,Disorder,[Disease],Senior-Loken syndrome,"[Nephronophthisis with retinal dystrophy, Renal dysplasia-retinal aplasia syndrome, SLSN]","A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.","[613615, 606995, 610189, 266900, 606996, 609254, 616629, 616307, 614845]",,,,,Senior Loken Syndrome,TRUE,FALSE,Active +GARD:3221,Legacy,GARD,,,,,,,,,,,,Leisti Hollister Rimoin syndrome,TRUE,FALSE,Retired +GARD:3223,Active,Orphanet,ORPHA:2658,Disorder,[Malformation syndrome],Lenz-Majewski hyperostotic dwarfism,,"An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.",[151050],,,,,Lenz Majewski hyperostotic dwarfism,TRUE,FALSE,Active +GARD:3224,Active,Orphanet,ORPHA:240,Disorder,[Malformation syndrome],Léri-Weill dyschondrosteosis,[Léri-Weill syndrome],"A rare, genetic skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.",[127300],,,,,Leri Weill dyschondrosteosis,TRUE,FALSE,Active +GARD:3225,Legacy,GARD,,,,,,,,,,,,Lethal chondrodysplasia Moerman type,TRUE,FALSE,Active +GARD:3226,Legacy,GARD,,,,,,,,,,,,Lethal chondrodysplasia Seller type,TRUE,FALSE,Active +GARD:3227,Active,Orphanet,ORPHA:1486,Disorder,[Malformation syndrome],Lethal congenital contracture syndrome type 1,"[Herva disease, LCCS1, Multiple contracture syndrome, Finnish type]","Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.",[253310],,,,,Lethal congenital contracture syndrome 1,TRUE,FALSE,Active +GARD:3228,Active,Orphanet,ORPHA:511,Disorder,[Disease],Maple syrup urine disease,"[BCKD deficiency, BCKDH deficiency, Branched-chain 2-ketoacid dehydrogenase deficiency, Branched-chain ketoaciduria, MSUD]","A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD.","[615135, 248600]",,,,,Maple syrup urine disease,TRUE,FALSE,Active +GARD:323,Legacy,GARD,,,,,,,,,,,,Sallis Beighton syndrome,TRUE,FALSE,Retired +GARD:3230,Active,Orphanet,ORPHA:512,Disorder,[Disease],Metachromatic leukodystrophy,"[Arylsulfatase A deficiency, MLD]","A rare lysosomal disease characterized by accumulation of sulfatides in the central and peripheral nervous system due to deficiency of the enzyme arylsulfatase A, leading to demyelination. Three clinical subtypes can be distinguished based on the age of onset: late infantile, juvenile, and adult. Lead symptoms are deterioration in motor or cognitive function or behavioral problems, depending on the subtype, all eventually culminating in a decerebrated state and death after a highly variable disease course and duration. Mode of inheritance is autosomal recessive.","[250100, 249900, 156310]",,,,,Metachromatic leukodystrophy,TRUE,FALSE,Active +GARD:3231,Active,Orphanet,ORPHA:99852,Disorder,[Disease],Ravine syndrome,"[Progressive encephalopathy with severe infantile anorexia, Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome]","Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.",,,,,,RAVINE syndrome,TRUE,FALSE,Draft +GARD:3232,Active,Orphanet,ORPHA:2386,Disorder,[Disease],Leukoencephalopathy-palmoplantar keratoderma syndrome,,"Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.",,,,,,Leukoencephalopathy palmoplantar keratoderma,TRUE,FALSE,Active +GARD:3234,Legacy,GARD,,,,,,,,,,,,Leukomelanoderma mental retardation hypotrichosis,TRUE,FALSE,Retired +GARD:3236,Active,Orphanet,ORPHA:2743,Disorder,[Malformation syndrome],Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,[Levic-Stefanovic-Nikolic syndrome],"Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.",[165150],,,,,Levic Stefanovic Nikolic syndrome,TRUE,FALSE,Active +GARD:324,Active,Orphanet,ORPHA:2230,Disorder,[Disease],Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome,[Salti-Salem syndrome],This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.,,,,,,Slti Salem syndrome,TRUE,FALSE,Active +GARD:3242,Active,Orphanet,ORPHA:1300,Disorder,[Malformation syndrome],Autosomal dominant popliteal pterygium syndrome,"[Facio-genito-popliteal syndrome, Popliteal web syndrome]","A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.",[119500],,,,,Popliteal pterygium syndrome,TRUE,FALSE,Active +GARD:3243,Legacy,GARD,,,,,,,,,,,,Lewy body dementia,FALSE,FALSE,Active +GARD:3244,Active,Orphanet,ORPHA:755,Disorder,[Disease],Leydig cell hypoplasia,"[46,XY DSD due to LH resistance or LHB deficiency, 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency, 46,XY disorder of sex development due to LH resistance or LHB deficiency, 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency]","A rare, 46,XY disorder of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias.",[238320],,,,,Leydig cell hypoplasia,TRUE,FALSE,Active +GARD:3247,Active,Orphanet,ORPHA:525,Disorder,[Disease],Lichen planopilaris,"[Follicular lichen planus, LPP, Lichen follicularis, Lichen planus follicularis]","A rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.",,,,,,Lichen planopilaris,TRUE,FALSE,Active +GARD:3248,Active,Orphanet,ORPHA:2390,Disorder,[Disease],Lichtenstein syndrome,,"A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.",[246550],,,,,Lichtenstein syndrome,TRUE,FALSE,Active +GARD:3249,Legacy,GARD,,,,,,,,,,,,Iida Kannari syndrome,TRUE,FALSE,Active +GARD:325,Active,Orphanet,ORPHA:95431,Disorder,[Disease],Twin to twin transfusion syndrome,[Feto-fetal transfusion syndrome],"Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated",,,,,,Twin to twin transfusion syndrome,TRUE,FALSE,Active +GARD:3251,Active,Orphanet,ORPHA:2369,Disorder,[Malformation syndrome],Limb body wall complex,"[Body stalk anomaly, LBWC syndrome]","Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.",,,,,,Limb-body wall complex,TRUE,FALSE,Active +GARD:3252,Active,Orphanet,ORPHA:1307,Disorder,[Malformation syndrome],Distal limb deficiencies-micrognathia syndrome,"[10q24 microduplication syndrome, Buttiens-Fryns syndrome]","The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.",[246560],,,,,Limb deficiencies distal with micrognathia,TRUE,FALSE,Active +GARD:3253,Legacy,GARD,,,,,,,,,,,,Limb dystonia,TRUE,FALSE,Retired +GARD:3254,Legacy,GARD,,,,,,,,,,,,Limb reduction defect,TRUE,FALSE,Retired +GARD:3259,Active,Orphanet,ORPHA:2611,Disorder,[Disease],Linear verrucous nevus syndrome,[Linear hamartoma syndrome],"A rare skin disease characterized by a hamartomatous epidermal lesion presenting as a linear array of verrucous, hyperkeratotic papules that often coalesce into plaques and are formed along the lines of Blaschko. The condition is associated with involvement of other organ systems, mainly brain, eye, and skeletal system. It is the result of mosaic post-zygotic mutations and most commonly presents at birth, but may occur anytime during childhood, rarely also in adulthood.",,,,,,Linear hamartoma syndrome,TRUE,FALSE,Active +GARD:326,Legacy,GARD,,,,,,,,,,,,Cutaneous necrotizing vasculitis,TRUE,FALSE,Retired +GARD:3262,Active,Orphanet,ORPHA:165,Group of disorders,[Clinical group],Neutral lipid storage disease,[Lipidosis with triglyceride storage disease],Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished.,,,,,,Lipidosis with triglycerid storage disease,TRUE,FALSE,Active +GARD:3263,Active,Orphanet,ORPHA:2394,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E3 deficiency,"[DLD deficiency, Dihydrolipoamide dehydrogenase deficiency, E3-deficient maple syrup urine disease]","Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.",[246900],,,,,Dihydrolipoamide dehydrogenase deficiency,TRUE,FALSE,Active +GARD:3268,Active,Orphanet,ORPHA:530,Disorder,[Malformation syndrome],Lipoid proteinosis,"[Hyalinosis cutis et mucosae, Urbach-Wiethe disease]","Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.",[247100],,,,,Lipoid proteinosis of Urbach and Wiethe,TRUE,FALSE,Active +GARD:3276,Legacy,GARD,,,,,,,,,,,,Lissencephaly syndrome type 1,TRUE,FALSE,Retired +GARD:3277,Active,Orphanet,ORPHA:51577,Group of disorders,[Clinical group],Cobblestone lissencephaly,[Lissencephaly type 2],"A rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.",,,,,,Lissencephaly 2,TRUE,FALSE,Active +GARD:3278,Legacy,GARD,,,,,,,,,,,,"Lissencephaly, isolated",TRUE,FALSE,Retired +GARD:328,Legacy,GARD,,,,,,,,,,,,Wandering spleen,TRUE,FALSE,Active +GARD:3281,Legacy,GARD,,,,,,,,,,,,Localized epiphyseal dysplasia,TRUE,FALSE,Retired +GARD:3283,Active,Orphanet,ORPHA:2404,Disorder,[Disease],Loiasis,,"Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis (see these terms).",,,,,,Loiasis,TRUE,FALSE,Active +GARD:3284,Active,Orphanet,ORPHA:101016,Disorder,[Disease],Romano-Ward syndrome,[Romano-Ward long QT syndrome],"A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).","[613695, 600919, 611818, 616247, 603830, 612955, 613688, 611819, 613485, 192500, 611820, 616249, 613693]",,,,,Long QT syndrome 1,TRUE,FALSE,Active +GARD:3285,Active,Orphanet+OMIM,OMIM:613688,Subtype of disorder,[Disease subtype],Long qt syndrome 2,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({7:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[613688],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 2,TRUE,FALSE,Active +GARD:3286,Active,Orphanet+OMIM,OMIM:603830,Subtype of disorder,[Disease subtype],Long qt syndrome 3,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({4:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[603830],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 3,TRUE,FALSE,Active +GARD:3287,Active,Orphanet,ORPHA:168,Disorder,[Disease],Loose anagen syndrome,,"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.",[600628],,,,,Loose anagen hair syndrome,TRUE,FALSE,Active +GARD:329,Active,Orphanet,ORPHA:901,Disorder,[Disease],Wells syndrome,[Eosinophilic cellulitis],Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.,,,,,,Wells syndrome,TRUE,FALSE,Active +GARD:3293,Legacy,GARD,,,,,,,,,,,,"Dwarfism, low-birth-weight type with unresponsiveness to growth hormone",TRUE,FALSE,Active +GARD:3295,Active,Orphanet,ORPHA:534,Disorder,[Malformation syndrome],Oculocerebrorenal syndrome of Lowe,"[Lowe disease, Lowe oculo-cerebro-renal dystrophy, Lowe oculo-cerebro-renal syndrome, Lowe oculocerebrorenal dystrophy, Lowe syndrome, OCRL, Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency]","A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.",[309000],,,,,Lowe oculocerebrorenal syndrome,TRUE,FALSE,Active +GARD:3299,Legacy,GARD,,,,,,,,,,,,Lower mesodermal defects sequence,TRUE,FALSE,Active +GARD:330,Active,Orphanet,ORPHA:3455,Disorder,[Malformation syndrome],Wiedemann-Rautenstrauch syndrome,[Neonatal progeroid syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by marked prenatal and postnatal growth retardation, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and an unusual face. Mild to moderate intellectual disability is common.",[264090],,,,,Neonatal progeroid syndrome,TRUE,FALSE,Active +GARD:3300,Active,Orphanet,ORPHA:2409,Disorder,[Malformation syndrome],Lowry-MacLean syndrome,,"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.",[600252],,,,,Lowry Maclean syndrome,TRUE,FALSE,Active +GARD:3303,Active,Orphanet,ORPHA:2575,Disorder,[Disease],Cystic fibrosis-gastritis-megaloblastic anemia syndrome,[Lubani-Al Saleh-Teebi syndrome],"A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.",[219721],,,,,Lubani Al Saleh Teebi syndrome,TRUE,FALSE,Active +GARD:3304,Legacy,GARD,,,,,,,,,,,,Lucey-Driscoll syndrome,TRUE,FALSE,Active +GARD:3307,Active,Orphanet,ORPHA:776,Disorder,[Malformation syndrome],Lujan-Fryns syndrome,[X-linked intellectual disability with marfanoid habitus],"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.","[300676, 300799, 309520]",,,,,Lujan syndrome,TRUE,FALSE,Active +GARD:3308,Legacy,GARD,,,,,,,,,,,,Lumbar malsegmentation short stature,TRUE,FALSE,Retired +GARD:331,Active,Orphanet,ORPHA:3472,Disorder,[Malformation syndrome],Yunis-Varon syndrome,[Cleidocranial dysplasia-micrognathia-absent thumbs syndrome],"A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global developmental delay, and respiratory, feeding and swallowing difficulties.",[216340],,,,,Yunis-Varon syndrome,TRUE,FALSE,Active +GARD:3314,Active,Orphanet,ORPHA:1173,Disorder,[Disease],Cerebellar ataxia-hypogonadism syndrome,"[Gordon-Holmes syndrome, Luteinizing hormone-releasing hormone deficiency with ataxia]","Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).","[212840, 605672]",,,,,Cerebellar ataxia and hypogonadotropic hypogonadism,TRUE,FALSE,Active +GARD:3315,Legacy,GARD,,,,,,,,,,,,Lutz Richner Landolt syndrome,TRUE,FALSE,Retired +GARD:3318,Active,Orphanet,ORPHA:2136,Disorder,[Malformation syndrome],Hennekam syndrome,[Lymphedema-lymphangiectasia-intellectual disability syndrome],"A rare syndromic lymphedema characterized by the association of primary lymphedema, intestinal lymphangiectasia, intellectual deficit and unusual facial characteristics.","[616006, 235510, 618154]",,,,,Hennekam syndrome,TRUE,FALSE,Active +GARD:3319,Active,Orphanet,ORPHA:538,Disorder,[Disease],Lymphangioleiomyomatosis,[LAM],"A rare, multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs).",[606690],,,,,Lymphangioleiomyomatosis,TRUE,FALSE,Active +GARD:332,Active,Orphanet,ORPHA:1555,Disorder,[Malformation syndrome],Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,[Beare-Stevenson cutis gyrata syndrome],"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.",[123790],,,,,Beare-Stevenson cutis gyrata syndrome,TRUE,FALSE,Active +GARD:3321,Active,Orphanet,ORPHA:2035,Disorder,[Disease],Lymphatic filariasis,,"Lymphatic filariasis (LF) is a severe form of filariasis (see this term), caused by the parasitic worms Wuchereria bancrofti, Brugia malayi and Brugia timori, and the most common cause of acquired lymphedema worldwide. LF is endemic to tropical and subtropical regions. The vast majority of infected patients are asymptomatic but it can also cause a variety of clinical manifestations, including limb lymphedema, genital anomalies (hydrocele, chylocele), elephantiasis in later stages of the disease (frequently in the lower extremities), and tropical pulmonary eosinophilia (nocturnal paroxysmal cough and wheezing, weight loss, low-grade fever, adenopathy, and pronounced blood eosinophilia). Renal involvement (hematuria, proteinuria, nephritic syndrome, glomerulonephritis), and mono-arthritis of the knee or ankle joint have also been reported.",,,,,,Lymphatic filariasis,TRUE,FALSE,Active +GARD:3324,Active,Orphanet,ORPHA:90186,Disorder,[Disease],Meige disease,"[Hereditary lymphedema type II, Meige lymphedema]","Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.",[153200],,,,,Hereditary lymphedema type II,TRUE,FALSE,Active +GARD:3328,Active,Orphanet+OMIM,OMIM:153100,Subtype of disorder,[Disease subtype],Lymphatic malformation 1,"[lymphedema, hereditary, type i, formerly, Nonne-milroy lymphedema, primary congenital lymphedema, lymphedema, hereditary, ia, formerly, lymphedema, early-onset, milroy disease]","Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {10:Gordon et al., 2013} and {1:Balboa-Beltran et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Lymphatic Malformation\n\nPrimary lymphedema is genetically heterogeneous: see also LMPHM2 ({611944}), which maps to chromosome 6q16.2-q22.1; LMPHM3 ({613480}), caused by mutation in the GJC2 gene ({608803}) on chromosome 1q42; LMPHM4 ({615907}), caused by mutation in the VEGFC gene ({601528}) on chromosome 4q34; LMPHM5 ({153200}); LMPHM6 ({616843}), caused by mutation in the PIEZO1 gene ({611184}) on chromosome 16q24; LMPHM7 ({617300}), caused by mutation in the EPHB4 gene ({600011}) on chromosome 7q22; LMPHM8 ({618773}), caused by mutation in the CALCRL gene ({114190}) on chromosome 2q31; LMPHM9 ({619319}), caused by mutation in the CELSR1 gene ({604523}) on chromosome 22q13; LMPHM10 ({610369}), caused by mutation in the ANGPT2 gene ({601922}) on chromosome 8p23; and LMPHM11 ({619401}), caused by mutation in the TIE1 gene ({600222}) on chromosome 1p34.\n\nLymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome ({153400}), which is caused by mutation in the FOXC2 gene ({602402}), and various forms of nonimmune hydrops fetalis (NIHF; see {236750}).",[153100],[79452],[Milroy disease],[7220],,Congenital lymphedema,TRUE,FALSE,Active +GARD:3329,Legacy,GARD,,,,,,,,,,,,Lymphoblastic lymphoma,TRUE,FALSE,Active +GARD:333,Active,Orphanet,ORPHA:33001,Disorder,[Malformation syndrome],Lymphedema-distichiasis syndrome,,"A rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.",[153400],,,,,Lymphedema-distichiasis syndrome,TRUE,FALSE,Active +GARD:3330,Legacy,GARD,,,,,,,,,,,,Angiomatous lymphoid hamartoma,TRUE,FALSE,Retired +GARD:3335,Active,Orphanet,ORPHA:470,Disorder,[Disease],Lysinuric protein intolerance,"[Hyperdibasic aminoaciduria, LPI]",Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.,[222700],,,,,Lysinuric protein intolerance,TRUE,FALSE,Active +GARD:334,Active,Orphanet,ORPHA:41,Disorder,[Disease],Dyschromatosis symmetrica hereditaria,[Acropigmentation of Dohi],"A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.",[127400],,,,,Dyschromatosis symmetrica hereditaria 1,TRUE,FALSE,Active +GARD:3342,Active,Orphanet,ORPHA:156207,Group of disorders,[Category],Macroglossia,,,,,,,,Macroglossia,TRUE,FALSE,Active +GARD:3343,Active,Orphanet,ORPHA:116,Disorder,[Malformation syndrome],Beckwith-Wiedemann syndrome,"[BWS, Exomphalos-macroglossia-gigantism syndrome, Wiedemann-Beckwith syndrome]","Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.",[130650],,,,,Beckwith-Wiedemann syndrome,TRUE,FALSE,Active +GARD:3347,Active,Orphanet,ORPHA:2435,Disorder,[Disease],Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome,[Westerhof-Beemer-Cormane syndrome],"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.",,,,,,Macules hereditary congenital hypopigmented and hyperpigmented,TRUE,FALSE,Active +GARD:3348,Active,Orphanet,ORPHA:2728,Disorder,[Malformation syndrome],"Blepharophimosis-intellectual disability syndrome, Ohdo type","[BMRS, Ohdo type, Blepharophimosis syndrome, Ohdo type, Ohdo syndrome, Ohdo-Madokoro-Sonoda syndrome]","Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.",[249620],,,,,Madokoro Ohdo Sonoda syndrome,TRUE,FALSE,Active +GARD:335,Legacy,GARD,,,,,,,,,,,,ABCD syndrome,TRUE,FALSE,Retired +GARD:3350,Active,Orphanet,ORPHA:34528,Disorder,[Disease],Autosomal dominant primary hypomagnesemia with hypocalciuria,"[HOMG2, Isolated autosomal dominant hypomagnesemia, Isolated renal magnesium wasting, Renal hypomagnesemia type 2]","A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.",[154020],,,,,Renal hypomagnesemia 2,TRUE,FALSE,Active +GARD:3356,Legacy,GARD,,,,,,,,,,,,Male pseudohermaphroditism due to defective LH molecule,TRUE,FALSE,Active +GARD:336,Active,Orphanet,ORPHA:101003,Disorder,[Disease],Autosomal recessive spastic paraplegia type 23,"[Lison syndrome, SPG23, Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome]","Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.",[270750],,,,,Spastic paraplegia 23,TRUE,FALSE,Active +GARD:3360,Legacy,GARD,,,,,,,,,,,,Malignant germ cell tumor,TRUE,FALSE,Active +GARD:3361,Active,Orphanet,ORPHA:2215,Disorder,[Malformation syndrome],Multiple pterygium-malignant hyperthermia syndrome,"[Froster-Iskenius-Waterson-Hall syndrome, Malignant hyperthermia-arthrogryposis-torticollis syndrome]","An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.",[217150],,,,,Malignant hyperthermia arthrogryposis torticollis,TRUE,FALSE,Active +GARD:3363,Active,Orphanet+OMIM,OMIM:145600,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 1","[hyperthermia of anesthesia, hyperpyrexia, malignant, Mhs]","Susceptibility to malignant hyperthermia (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by {47:Monnier et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Malignant Hyperthermia\n\nOther MHS loci include MHS2 ({154275}) on chromosome 17q; MHS3 ({154276}) on chromosome 7q; MHS4 ({600467}) on chromosome 3q; MHS5 ({601887}), caused by mutation in the CACNA1S gene ({114208}) on chromosome 1q32; and MHS6 ({601888}) on chromosome 5p.",[145600],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 1,TRUE,FALSE,Retired +GARD:3364,Active,Orphanet+OMIM,OMIM:154275,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 2",,"Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease with autosomal dominant inheritance triggered by exposure to commonly used inhalational anaesthetics or depolarizing muscle relaxants (summary by {5:Sudbrak et al., 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 ({145600}).",[154275],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 2,TRUE,FALSE,Retired +GARD:3365,Active,Orphanet+OMIM,OMIM:154276,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 3",,"Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle which manifests as a potentially fatal hypermetabolic crisis triggered by commonly used anaesthetic agents (summary by {1:Iles et al., 1994}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia susceptibility, see MHS1 ({145600}).",[154276],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 3,TRUE,FALSE,Retired +GARD:3366,Active,Orphanet+OMIM,OMIM:600467,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 4",,"Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease for which MH susceptibility (MHS) is transmitted as an autosomal dominant trait. A potentially life-threatening MH crisis is triggered by exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants (summary by {1:Sudbrak et al., 1995}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 ({145600}).",[600467],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 4,TRUE,FALSE,Retired +GARD:3367,Active,Orphanet+OMIM,OMIM:601887,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 5",,"Malignant hyperthermia-5 (MHS5) is a muscle disorder in which an episode is triggered by exposure to volatile anesthetic agents or depolarizing muscle relaxants. A fulminant malignant hyperthermia crisis is characterized by hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis (summary by {1:Monnier et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia, see MHS1 ({145600}).",[601887],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 5,TRUE,FALSE,Retired +GARD:3368,Active,Orphanet+OMIM,OMIM:601888,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 6",,"Malignant hyperthermia (MH) is a life threatening disorder triggered in susceptible individuals on exposure to commonly used inhalational anaesthetics, e.g., halothane and the depolarizing muscle relaxant suxamethonium (succinyl choline) (summary by {1:Robinson et al., 1997})\n\nFor a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 ({145600}).",[601888],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 6,TRUE,FALSE,Retired +GARD:3369,Legacy,GARD,,,,,,,,,,,,Malignant mesenchymoma,TRUE,FALSE,Active +GARD:3371,Active,Orphanet,ORPHA:943,Disorder,[Disease],Malonic aciduria,[Malonyl-CoA decarboxylase deficiency],Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).,[248360],,,,,Malonyl-CoA decarboxylase deficiency,TRUE,FALSE,Active +GARD:3373,Active,Orphanet,ORPHA:2229,Disorder,[Malformation syndrome],Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,"[Cardiogenital syndrome, Malouf syndrome, Najjar syndrome]",This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).,[212112],,,,,Dilated cardiomyopathy with hypergonadotropic hypogonadism,TRUE,FALSE,Active +GARD:3374,Active,Orphanet,ORPHA:90153,Subtype of disorder,[Clinical subtype],Mandibuloacral dysplasia with type A lipodystrophy,,,[248370],,,,,Mandibuloacral dysplasia with type A lipodystrophy,TRUE,FALSE,Active +GARD:3378,Active,Orphanet,ORPHA:1120,Disorder,[Malformation syndrome],Lung agenesis-heart defect-thumb anomalies syndrome,[Mardini-Nyhan syndrome],"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.",[601612],,,,,Manouvrier syndrome,TRUE,FALSE,Active +GARD:338,Legacy,GARD,,,,,,,,,,,,Zerres Rietschel Majewski syndrome,TRUE,FALSE,Active +GARD:3382,Active,Orphanet,ORPHA:2460,Disorder,[Malformation syndrome],Van den Ende-Gupta syndrome,"[Marden-Walker-like syndrome, VDEGS]","Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.",[600920],,,,,Van den Ende Gupta syndrome,TRUE,FALSE,Active +GARD:3387,Legacy,GARD,,,,,,,,,,,,Marfanoid hypermobility syndrome,TRUE,FALSE,Active +GARD:3388,Active,Orphanet,ORPHA:2463,Disorder,[Malformation syndrome],Marfanoid habitus-autosomal recessive intellectual disability syndrome,[Fragoso-Cantú syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984.",[248770],,,,,Marfanoid habitus-autosomal recessive intellectual disability syndrome,TRUE,FALSE,Active +GARD:3389,Legacy,GARD,,,,,,,,,,,,Marginal glioneuronal heterotopia,TRUE,FALSE,Active +GARD:339,Legacy,GARD,,,,,,,,,,,,Zazam Sheriff Phillips syndrome,TRUE,FALSE,Active +GARD:3390,Active,Orphanet,ORPHA:444,Disorder,[Disease],Marie Unna hereditary hypotrichosis,"[Hypotrichosis, Marie Unna type, MUHH, Marie Unna congenital hypotrichosis]","A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.","[146550, 612841]",,,,,Marie Unna congenital hypotrichosis,TRUE,FALSE,Active +GARD:3393,Legacy,GARD,,,,,,,,,,,,Markel Vikkula Mulliken syndrome,TRUE,FALSE,Active +GARD:3395,Active,Orphanet,ORPHA:2717,Disorder,[Malformation syndrome],Oculotrichoanal syndrome,"[MOTA syndrome, Manitoba oculotrichoanal syndrome, Marles syndrome, Marles-Greenberg-Persaud syndrome]","Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.",[248450],,,,,Manitoba oculotrichoanal syndrome,TRUE,FALSE,Active +GARD:3396,Active,Orphanet,ORPHA:2763,Disorder,[Malformation syndrome],Osteocraniostenosis,"[Gracile bone dysplasia, Osteocraniosplenic syndrome]","Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.",[602361],,,,,Gracile bone dysplasia,TRUE,FALSE,Active +GARD:3397,Legacy,GARD,,,,,,,,,,,,Maroteaux Fonfria syndrome,TRUE,FALSE,Retired +GARD:3399,Active,Orphanet,ORPHA:1423,Disorder,[Malformation syndrome],Lethal recessive chondrodysplasia,[Maroteaux-Stanescu-Cousin syndrome],"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.",,,,,,Maroteaux Stanescu Cousin syndrome,TRUE,FALSE,Active +GARD:340,Legacy,GARD,,,,,,,,,,,,Zadik Barak Levin syndrome,TRUE,FALSE,Active +GARD:3401,Active,Orphanet,ORPHA:2464,Disorder,[Malformation syndrome],"Marfanoid syndrome, De Silva type",,"A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.",[223330],,,,,Marphanoid syndrome type De Silva,TRUE,FALSE,Active +GARD:3402,Legacy,GARD,,,,,,,,,,,,Marsden Nyhan Sakati syndrome,TRUE,FALSE,Retired +GARD:3404,Legacy,GARD,,,,,,,,,,,,Martinez Monasterio Pinheiro syndrome,TRUE,FALSE,Retired +GARD:3406,Active,Orphanet,ORPHA:1387,Disorder,[Malformation syndrome],Cataract-intellectual disability-hypogonadism syndrome,[Martsolf syndrome],"This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.",[212720],,,,,Martsolf syndrome,TRUE,FALSE,Active +GARD:3407,Legacy,GARD,,,,,,,,,,,,Massa Casaer Ceulemans syndrome,TRUE,FALSE,Active +GARD:3409,Active,Orphanet,ORPHA:2135,Disorder,[Malformation syndrome],Hennekam-Beemer syndrome,"[Mastocytosis-short stature-deafness syndrome, Mastocytosis-short stature-hearing loss syndrome]","A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.",[248910],,,,,Mastocytosis cutaneous with short stature conductive hearing loss and microtia,TRUE,FALSE,Active +GARD:341,Active,Orphanet,ORPHA:3471,Disorder,[Disease],Young syndrome,[Azoospermia-sinopulmonary infections syndrome],Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections.,[279000],,,,,Young syndrome,TRUE,FALSE,Active +GARD:3410,Legacy,GARD,,,,,,,,,,,,Mastroiacovo De Rosa Satta syndrome,TRUE,FALSE,Retired +GARD:3411,Legacy,GARD,,,,,,,,,,,,Mastroiacovo Gambi Segni syndrome,TRUE,FALSE,Retired +GARD:3413,Active,Orphanet,ORPHA:2209,Disorder,[Malformation syndrome],Maternal phenylketonuria,"[Hyperphenylalaninemic embryopathy, Maternal PKU, Maternal hyperphenylalaninemia, Phenylketonuric embryopathy]","A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations.",[261600],,,,,Maternal hyperphenylalaninemia,TRUE,FALSE,Active +GARD:3417,Legacy,GARD,,,,,,,,,,,,Matsoukas Liarikos Giannikas syndrome,TRUE,FALSE,Retired +GARD:3418,Active,Orphanet+OMIM,OMIM:125850,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 1","[Mody, type 1, mild juvenile diabetes mellitus]",,[125850],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 1",TRUE,FALSE,Active +GARD:3419,Legacy,GARD,,,,,,,,,,,,Maumenee syndrome,TRUE,FALSE,Retired +GARD:3423,Legacy,GARD,,,,,,,,,,,,McCallum Macadam Johnston syndrome,TRUE,FALSE,Retired +GARD:3424,Active,Orphanet,ORPHA:2471,Disorder,[Malformation syndrome],McDonough syndrome,,"McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.",[248950],,,,,McDonough syndrome,TRUE,FALSE,Active +GARD:3425,Legacy,GARD,,,,,,,,,,,,McDowall syndrome,TRUE,FALSE,Active +GARD:3426,Active,Orphanet,ORPHA:168624,Disorder,[Malformation syndrome],"Familial scaphocephaly syndrome, McGillivray type",[Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome],"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.",[609579],,,,,McGillivray syndrome,TRUE,FALSE,Active +GARD:3427,Active,Orphanet,ORPHA:2473,Disorder,[Malformation syndrome],McKusick-Kaufman syndrome,"[Hydrometrocolpos-postaxial polydactyly syndrome, Kaufman-Mckusick syndrome]","A rare, genetic multiple congenital anomalies syndrome characterized by genitourinary malformations (hydrometrocolpos in females and in males, glanular hypospadias and prominent scrotal raphe) , postaxial polydactyly that may affect only one or several limbs, and to a lesser extent cardiac defects. Hydrometrocolpos is due to either a congenital obstruction, imperforate hymen or vaginal atressia, and causes a palpable mass and possibly hydronephrosis. Other anomalies occasionally reported include choanal atresia, pituitary dysplasia, esophageal atresia and distal tracheoesophageal fistula, Hirschsprung disease, vertebral anomalies, and hydrops fetalis. The disorder is allelic with Bardet-Biedl, and as some phenotypic overlap has been observed, patients should be reevaluated in later childhood for retinistis pigmentosas and other signs of Bardet-Biedl syndrome.",[236700],,,,,McKusick Kaufman syndrome,TRUE,FALSE,Active +GARD:3429,Legacy,GARD,,,,,,,,,,,,"Microcephaly, primary autosomal recessive",TRUE,FALSE,Retired +GARD:343,Active,Orphanet,ORPHA:166063,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 4,"[Fatal infantile encephalopathy with olivopontocerebellar hypoplasia, Olivopontocerebellar hypoplasia, PCH4]","A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.",[225753],,,,,Pontocerebellar hypoplasia type 4,TRUE,FALSE,Active +GARD:3430,Active,Orphanet,ORPHA:2001,Disorder,[Malformation syndrome],Cleft lip/palate-intestinal malrotation-cardiopathy syndrome,[McPherson-Clemens syndrome],"A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.",[601165],,,,,McPherson Clemens syndrome,TRUE,FALSE,Active +GARD:3431,Legacy,GARD,,,,,,,,,,,,McPherson Robertson Cammarano syndrome,TRUE,FALSE,Active +GARD:3432,Active,Orphanet,ORPHA:3097,Disorder,[Malformation syndrome],Meacham syndrome,"[Meacham-Winn-Culler syndrome, Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome]","Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.",[608978],,,,,Meacham Winn Culler syndrome,TRUE,FALSE,Active +GARD:3434,Legacy,GARD,,,,,,,,,,,,Measles,TRUE,FALSE,Active +GARD:3436,Active,Orphanet,ORPHA:564,Disorder,[Malformation syndrome],Meckel syndrome,"[Dysencephalia splanchnocystica, Meckel-Gruber syndrome]","A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.","[603194, 614209, 607361, 615397, 612284, 611561, 613885, 611134, 617562, 249000, 609345]",,,,,Meckel syndrome,TRUE,FALSE,Active +GARD:3438,Active,Orphanet,ORPHA:2476,Disorder,[Malformation syndrome],Dysraphism-cleft lip/palate-limb reduction defects syndrome,[Medeira-Dennis-Donnai syndrome],"A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.",,,,,,Medeira-Dennis-Donnai syndrome,TRUE,FALSE,Active +GARD:3439,Active,Orphanet,ORPHA:1993,Disorder,[Malformation syndrome],Pai syndrome,[Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome],"A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.",[155145],,,,,Median cleft of upper lip with polyps of facial skin and nasal mucosa,TRUE,FALSE,Active +GARD:344,Active,Orphanet,ORPHA:2166,Disorder,[Malformation syndrome],Holoprosencephaly-postaxial polydactyly syndrome,[Pseudo-trisomy 13 syndrome],"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).",[264480],,,,,Pseudotrisomy 13 syndrome,TRUE,FALSE,Active +GARD:3440,Active,Orphanet,ORPHA:2699,Disorder,[Malformation syndrome],Median nodule of the upper lip,,Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.,[151630],,,,,Median nodule of the upper lip,TRUE,FALSE,Active +GARD:3441,Legacy,GARD,,,,,,,,,,,,Medrano Roldan syndrome,TRUE,FALSE,Active +GARD:3442,Active,Orphanet,ORPHA:2241,Disorder,[Malformation syndrome],Megacystis-microcolon-intestinal hypoperistalsis syndrome,"[Berdon syndrome, MMIHS, Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome]","Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.","[619351, 249210]",,,,,Megacystis microcolon intestinal hypoperistalsis syndrome,TRUE,FALSE,Active +GARD:3443,Active,Orphanet,ORPHA:2604,Disorder,[Disease],Familial visceral myopathy,"[Familial hollow visceral myopathy, Hereditary hollow visceral myopathy, Megaduodenum and/or megacystis]","Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.","[619350, 155310]",,,,,Megaduodenum and/or megacystis,TRUE,FALSE,Active +GARD:3444,Legacy,GARD,,,,,,,,,,,,Megaepiphyseal dwarfism,TRUE,FALSE,Active +GARD:3445,Active,Orphanet,ORPHA:2478,Disorder,[Disease],Megalencephalic leukoencephalopathy with subcortical cysts,"[MLC, Megalencephalic leukodystrophy, Megalencephaly-cystic leukodystrophy syndrome, Vacuolating megalencephalic leukoencephalopathy with subcortical cysts, Van der Knaap syndrome]","A form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.","[604004, 613925, 613926]",,,,,Megalencephalic leukoencephalopathy with subcortical cysts,TRUE,FALSE,Active +GARD:3448,Active,Orphanet,ORPHA:2479,Disorder,[Malformation syndrome],Megalocornea-intellectual disability syndrome,"[MMR syndrome, Neuhäuser syndrome]","Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.",[249310],,,,,Megalocornea-intellectual disability syndrome,TRUE,FALSE,Active +GARD:3449,Active,Orphanet,ORPHA:3038,Disorder,[Malformation syndrome],Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,[Mehes syndrome],"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.",[182875],,,,,Mehes syndrome,TRUE,FALSE,Active +GARD:345,Active,Orphanet,ORPHA:3055,Disorder,[Malformation syndrome],X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome,[Young-Hughes syndrome],"X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.",,,,,,X-linked intellectual disability - short stature – obesity,TRUE,FALSE,Active +GARD:3450,Legacy,GARD,,,,,,,,,,,,Mehta Lewis Patton syndrome,TRUE,FALSE,Active +GARD:3451,Active,Orphanet,ORPHA:2196,Subtype of disorder,[Clinical subtype],Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,"[FHHNC with severe ocular involvement, Hypercalciuria-bilateral macular coloboma syndrome, Meier-Blumberg-Imahorn syndrome]","Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.",[248190],,,,,Meier Blumberg Imahorn syndrome,TRUE,FALSE,Active +GARD:3454,Legacy,GARD,,,,,,,,,,,,Meigel disease,TRUE,FALSE,Active +GARD:3456,Legacy,GARD,,,,,,,,,,,,Meinecke syndrome,TRUE,FALSE,Retired +GARD:346,Active,Orphanet,ORPHA:3322,Disorder,[Disease],Hoyeraal-Hreidarsson syndrome,[Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome],"An X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.","[615190, 613989, 305000, 613990, 616353, 616553]",,,,,Hoyeraal Hreidarsson syndrome,TRUE,FALSE,Active +GARD:3460,Active,Orphanet,ORPHA:618,Disorder,[Disease],Familial melanoma,,Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.,"[613099, 155600, 155601, 613972, 615848, 615134, 609048, 608035, 155700]",,,,,Hereditary melanoma,TRUE,FALSE,Active +GARD:3462,Active,Orphanet,ORPHA:2482,Disorder,[Malformation syndrome],Melhem-Fahl syndrome,,Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.,,,,,,Melhem Fahl syndrome,TRUE,FALSE,Active +GARD:347,Active,Orphanet,ORPHA:2255,Disorder,[Disease],Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,[Yorifuji-Okuno syndrome],"A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).",[600001],,,,,Yorifuji Okuno syndrome,TRUE,FALSE,Active +GARD:3470,Legacy,GARD,,,,,,,,,,,,Lysteria monocytoigeneses meningitis,TRUE,FALSE,Retired +GARD:3471,Legacy,GARD,,,,,,,,,,,,Meningocele,TRUE,FALSE,Active +GARD:3472,Legacy,GARD,,,,,,,,,,,,Meningococcemia,TRUE,FALSE,Active +GARD:3473,Legacy,GARD,,,,,,,,,,,,Meningoencephalocele,TRUE,FALSE,Active +GARD:3475,Active,Orphanet,ORPHA:93969,Disorder,[Morphological anomaly],Myelomeningocele,,"A rare neural tube closure defect characterized by protrusion of the spinal cord and meninges from the spinal column into a fluid-filled sac at the location of the defect. Clinical signs are variable, depending on location and severity of the lesion, but may include bladder and bowel dysfunction, hydrocephalus, and/or partial or complete paralysis of the lower limbs, among others.",,,,,,Myelomeningocele,TRUE,FALSE,Active +GARD:3476,Legacy,GARD,,,,,,,,,,,,Mental deficiency-epilepsy-endocrine disorders,TRUE,FALSE,Retired +GARD:3479,Legacy,GARD,,,,,,,,,,,,Mental retardation-polydactyly-uncombable hair,TRUE,FALSE,Retired +GARD:348,Active,Orphanet,ORPHA:876,Disorder,[Disease],Yolk sac tumor,[Endodermal sinus tumor],"A rare germ cell tumor characterized by multiple patterns reflecting endodermal extraembryonal differentiation (secondary yolk sac and allantois) or endodermal somatic tissues (intestine, liver, and mesenchyme). The tumors most commonly occur in the second or third decade of life. They are typically located in the gonads, occasionally also in other regions. Patients present with a pelvic mass and/or abdominal pain (females) or an often painless, unilateral testicular mass (males). Elevated serum alpha fetoprotein is a common laboratory finding.",[273300],,,,,Testicular yolk sac tumor,TRUE,FALSE,Active +GARD:3480,Active,Orphanet,ORPHA:66625,Disorder,[Malformation syndrome],Cerebrooculonasal syndrome,,"Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.",[605627],,,,,Cerebrooculonasal syndrome,TRUE,FALSE,Active +GARD:3481,Legacy,GARD,,,,,,,,,,,,Mental retardation arachnodactyly hypotonia telangiectasia,TRUE,FALSE,Retired +GARD:3482,Active,Orphanet,ORPHA:1236,Disorder,[Malformation syndrome],Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome,,"Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.",,,,,,Intellectual disability - athetosis - microphthalmia,TRUE,FALSE,Active +GARD:3485,Active,Orphanet,ORPHA:3079,Disorder,[Malformation syndrome],"Intellectual disability, Buenos-Aires type",[Mutchinick syndrome],"Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.",[249630],,,,,Intellectual deficit Buenos-Aires type,TRUE,FALSE,Active +GARD:3486,Legacy,GARD,,,,,,,,,,,,Mental retardation cataracts calcified pinnae myopathy,TRUE,FALSE,Retired +GARD:3487,Legacy,GARD,,,,,,,,,,,,Mental retardation coloboma slimness,TRUE,FALSE,Retired +GARD:3489,Legacy,GARD,,,,,,,,,,,,Mental retardation dysmorphism hypogonadism diabetes,TRUE,FALSE,Retired +GARD:349,Legacy,GARD,,,,,,,,,,,,Neuroaxonal dystrophy renal tubular acidosis,TRUE,FALSE,Active +GARD:3490,Legacy,GARD,,,,,,,,,,,,Mental retardation epilepsy,TRUE,FALSE,Retired +GARD:3491,Active,Orphanet,ORPHA:2139,Disorder,[Malformation syndrome],Hernández-Aguirre Negrete syndrome,[Intellectual disability-epilepsy-bulbous nose syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation.",,,,,,Hernández-Aguirre Negrete syndrome,TRUE,FALSE,Active +GARD:3492,Legacy,GARD,,,,,,,,,,,,Mental retardation gynecomastia obesity X-linked,TRUE,FALSE,Retired +GARD:3493,Legacy,GARD,,,,,,,,,,,,Mental retardation hip luxation G6PD variant,TRUE,FALSE,Retired +GARD:3494,Legacy,GARD,,,,,,,,,,,,Mental retardation hypocupremia hypobetalipoproteinemia,TRUE,FALSE,Retired +GARD:3496,Legacy,GARD,,,,,,,,,,,,Mental retardation hypotonia skin hyperpigmentation,TRUE,FALSE,Retired +GARD:3497,Legacy,GARD,,,,,,,,,,,,Mental retardation macrocephaly coarse facies hypotonia,TRUE,FALSE,Retired +GARD:3498,Legacy,GARD,,,,,,,,,,,,Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome,TRUE,FALSE,Retired +GARD:3499,Legacy,GARD,,,,,,,,,,,,Mental retardation microcephaly unusual facies,TRUE,FALSE,Retired +GARD:35,Active,Orphanet,ORPHA:3307,Disorder,[Malformation syndrome],Tetrasomy 18p,[Isochromosome 18p],"Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.",[614290],,,,,Chromosome 18p tetrasomy,TRUE,FALSE,Active +GARD:350,Active,Orphanet,ORPHA:1858,Disorder,[Malformation syndrome],Skeletal dysplasia-epilepsy-short stature syndrome,[Gurrieri-Sammito-Bellussi syndrome],"A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactily, slight generalized hypotonia and hyper extensible joints.",[601187],,,,,Gurrieri syndrome,TRUE,FALSE,Active +GARD:3505,Active,Orphanet,ORPHA:404473,Disorder,[Malformation syndrome],Severe intellectual disability-progressive spastic diplegia syndrome,[CTNNB1 syndrome],"Severe intellectual disability-progressive spastic diplegia syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.",[615075],,,,,Severe intellectual disability-progressive spastic diplegia syndrome,TRUE,FALSE,Active +GARD:3506,Active,Orphanet,ORPHA:3077,Disorder,[Malformation syndrome],X-linked intellectual disability-psychosis-macroorchidism syndrome,"[Lindsay-Burn syndrome, PPM-X]","An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities.",[300055],,,,,PPM-X syndrome,TRUE,FALSE,Active +GARD:351,Active,Orphanet,ORPHA:1562,Disorder,[Malformation syndrome],Dacryocystitis-osteopoikilosis syndrome,[Gunal-Seber-Basaran syndrome],"A rare, autosomal dominant, syndromic bone disorder characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).",[166705],,,,,Osteopoikilosis and dacryocystitis,TRUE,FALSE,Active +GARD:3511,Legacy,GARD,,,,,,,,,,,,Mental retardation short stature deafness genital,TRUE,FALSE,Retired +GARD:3514,Active,Orphanet,ORPHA:3074,Disorder,[Malformation syndrome],Intellectual disability-short stature-hypertelorism syndrome,[Stoll-Géraudel-Chauvin syndrome],"Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.",,,,,,Intellectual deficit - short stature - hypertelorism,TRUE,FALSE,Active +GARD:3515,Legacy,GARD,,,,,,,,,,,,Mental retardation short stature microcephaly eye,TRUE,FALSE,Retired +GARD:3519,Active,Orphanet,ORPHA:1240,Disorder,[Disease],Metaphyseal acroscyphodysplasia,"[Bellini syndrome, Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome]","Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.",[250215],,,,,Metaphyseal acroscyphodysplasia,TRUE,FALSE,Active +GARD:352,Legacy,GARD,,,,,,,,,,,,Guizar Vasquez Sanchez Manzano syndrome,TRUE,FALSE,Active +GARD:3520,Active,Orphanet,ORPHA:1436,Disorder,[Malformation syndrome],X-linked skeletal dysplasia-intellectual disability syndrome,[Christian syndrome],"A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described.",[309620],,,,,X-linked skeletal dysplasia-intellectual disability syndrome,TRUE,FALSE,Active +GARD:3521,Active,Orphanet+OMIM,OMIM:309580,Subtype of disorder,[Malformation syndrome subtype],"Intellectual disability-hypotonic facies syndrome, x-linked, 1","[xlmr-hypotonic facies syndrome, carpenter-waziri syndrome, smith-fineman-myers syndrome 1, sfms, holmes-gang syndrome, Mental retardation-hypotonic facies syndrome, x-linked, 1, chudley-lowry syndrome]","The term 'X-linked intellectual disability-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women ({1:Abidi et al., 2005}). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.\n\nX-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.",[309580],[847],[Alpha-thalassemia-X-linked intellectual disability syndrome],[5864],,Smith-Fineman-Myers syndrome,TRUE,FALSE,Active +GARD:3523,Active,Orphanet,ORPHA:1891,Disorder,[Malformation syndrome],Intellectual disability-spasticity-ectrodactyly syndrome,[Jancar syndrome],"Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).",[246555],,,,,Intellectual disability-spasticity-ectrodactyly syndrome,TRUE,FALSE,Active +GARD:3524,Active,Orphanet,ORPHA:2557,Disorder,[Malformation syndrome],Mietens syndrome,"[Intellectual disability, Mietens-Weber type]","Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.",[249600],,,,,Mietens-Weber syndrome,TRUE,FALSE,Active +GARD:3529,Legacy,GARD,,,,,,,,,,,,Intellectual deficit unusual facies talipes hand anomalies,TRUE,FALSE,Retired +GARD:353,Legacy,GARD,,,,,,,,,,,,Kozlowski Warren Fisher syndrome,TRUE,FALSE,Active +GARD:3530,Active,Orphanet,ORPHA:3080,Disorder,[Malformation syndrome],"Intellectual disability, Wolff type",[Wolff-Zimmermann syndrome],"Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.",[277990],,,,,Intellectual disability Wolff type,TRUE,FALSE,Retired +GARD:3531,Active,Orphanet,ORPHA:3057,Disorder,[Disease],Monoamine oxidase A deficiency,[Brunner syndrome],"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.",[300615],,,,,Monoamine oxidase A deficiency,TRUE,FALSE,Active +GARD:3532,Legacy,GARD,,,,,,,,,,,,Mental retardation X-linked dysmorphism,TRUE,FALSE,Retired +GARD:3537,Active,Orphanet,ORPHA:1193,Disorder,[Malformation syndrome],Atkin-Flaitz syndrome,"[X-linked intellectual disability, Atkin type]","A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.",[300431],,,,,Atkin syndrome,TRUE,FALSE,Active +GARD:354,Active,Orphanet,ORPHA:2324,Disorder,[Malformation syndrome],Osteopenia-intellectual disability-sparse hair syndrome,[Kaler-Garrity-Stern syndrome],"A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.",[259690],,,,,Osteopenia and sparse hair,TRUE,FALSE,Active +GARD:3542,Legacy,GARD,,,,,,,,,,,,X-linked non-specific intellectual disability,TRUE,FALSE,Active +GARD:3545,Legacy,GARD,,,,,,,,,,,,Merlob Grunebaum Reisner syndrome,TRUE,FALSE,Retired +GARD:3547,Legacy,GARD,,,,,,,,,,,,Diffuse mesangial sclerosis,TRUE,FALSE,Active +GARD:3549,Legacy,GARD,,,,,,,,,,,,Mesomelia,TRUE,FALSE,Active +GARD:3552,Active,Orphanet,ORPHA:2631,Disorder,[Malformation syndrome],Mesomelic dwarfism-cleft palate-camptodactyly syndrome,"[Mesomelic dysplasia, Kozlowski-Reardon type, Mesomelic dysplasia, Reardon type, Reardon-Hall-Slaney syndrome]","A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.",[249710],,,,,Mesomelic dwarfism cleft palate camptodactyly,TRUE,FALSE,Active +GARD:3553,Active,Orphanet,ORPHA:2632,Disorder,[Malformation syndrome],Langer mesomelic dysplasia,"[Mesomelic dwarfism, Langer type]","A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.",[249700],,,,,Langer mesomelic dysplasia,TRUE,FALSE,Active +GARD:3554,Active,Orphanet,ORPHA:2633,Disorder,[Malformation syndrome],"Mesomelic dysplasia, Nievergelt type","[Mesomelic dwarfism, Nievergelt type, Nievergelt syndrome]","A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features.",[163400],,,,,Nievergelt syndrome,TRUE,FALSE,Active +GARD:3555,Active,Orphanet,ORPHA:2634,Disorder,[Malformation syndrome],"Mesomelic dwarfism, Reinhardt-Pfeiffer type","[Reinhardt-Pfeiffer mesomelic dysplasia, Reinhardt-Pfeiffer syndrome]",A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.,[191400],,,,,"Ulna and fibula, hypoplasia of",TRUE,FALSE,Active +GARD:3556,Legacy,GARD,,,,,,,,,,,,Mesomelic dysplasia skin dimples,TRUE,FALSE,Active +GARD:3557,Legacy,GARD,,,,,,,,,,,,Thai symphalangism syndrome,TRUE,FALSE,Active +GARD:3559,Active,Orphanet,ORPHA:2498,Disorder,[Morphological anomaly],Syndactyly type 8,[Fusion of metacarpals 4 and 5],"A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.",[309630],,,,,Metacarpals 4 and 5 fusion,TRUE,FALSE,Active +GARD:3560,Active,Orphanet,ORPHA:2499,Disorder,[Malformation syndrome],Metachondromatosis,,Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.,[156250],,,,,Metachondromatosis,TRUE,FALSE,Active +GARD:3562,Active,Orphanet,ORPHA:1040,Disorder,[Disease],Metaphyseal anadysplasia,"[Maroteaux-Verloes-Stanescu syndrome, Regressive metaphyseal dysplasia]","A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.","[613073, 602111]",,,,,Metaphyseal anadysplasia,TRUE,FALSE,Active +GARD:3563,Active,Orphanet,ORPHA:2501,Disorder,[Disease],"Metaphyseal chondrodysplasia, Spahr type",,"A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.",[250400],,,,,Metaphyseal chondrodysplasia Spahr type,TRUE,FALSE,Active +GARD:3565,Legacy,GARD,,,,,,,,,,,,"Metaphyseal chondrodysplasia, others",TRUE,FALSE,Active +GARD:3566,Active,Orphanet,ORPHA:2502,Disorder,[Malformation syndrome],Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,[Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome],"Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.",[250420],,,,,Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,TRUE,FALSE,Active +GARD:3568,Active,Orphanet,ORPHA:2504,Disorder,[Malformation syndrome],Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,,"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.",[156510],,,,,Metaphyseal dysplasia maxillary hypoplasia brachydactyly,TRUE,FALSE,Active +GARD:357,Legacy,GARD,,,,,,,,,,,,Gupta Patton syndrome,TRUE,FALSE,Retired +GARD:3570,Legacy,GARD,,,,,,,,,,,,Metatarsus adductus,FALSE,FALSE,Active +GARD:3571,Active,Orphanet,ORPHA:2635,Disorder,[Disease],Metatropic dysplasia,[Metatropic dwarfism],Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.,[156530],,,,,Metatropic dysplasia,TRUE,FALSE,Active +GARD:3573,Active,Orphanet,ORPHA:1923,Disorder,[Malformation syndrome],Methimazole embryofetopathy,"[MMI/CMZ embryofetopathy, MMI/CMZ embryopathy, Methimazole/carbimazole embryofetopathy, Methimazole/carbimazole embryopathy]","A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.",,,,,,Methimazole antenatal exposure,TRUE,FALSE,Active +GARD:3575,Active,Orphanet,ORPHA:1917,Disorder,[Malformation syndrome],Fetal methylmercury syndrome,"[Methyl mercury antenatal infection, Minamata disease]",A rare disorder characterized by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.,,,,,,Fetal methylmercury syndrome,TRUE,FALSE,Active +GARD:3576,Active,Orphanet,ORPHA:2169,Subtype of disorder,[Clinical subtype],Methylcobalamin deficiency type cblE,[Functional methionine synthase deficiency type cblE],,[236270],,,,,"Methylcobalamin deficiency, cbl E complementation type",TRUE,FALSE,Retired +GARD:3577,Active,Orphanet,ORPHA:2170,Subtype of disorder,[Clinical subtype],Methylcobalamin deficiency type cblG,[Functional methionine synthase deficiency type cblG],,[250940],,,,,Methylcobalamin deficiency cbl G type,TRUE,FALSE,Active +GARD:3579,Active,Orphanet,ORPHA:26,Disorder,[Disease],Methylmalonic acidemia with homocystinuria,"[Combined defect in adenosylcobalamin and methylcobalamin synthesis, Methylmalonic aciduria with homocystinuria]","A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).","[277410, 614857, 277400, 277380]",,,,,Methylmalonic acidemia with homocystinuria,TRUE,FALSE,Active +GARD:358,Active,Orphanet,ORPHA:2804,Disorder,[Malformation syndrome],W syndrome,[Pallister-W syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described.",[311450],,,,,Pallister W syndrome,TRUE,FALSE,Active +GARD:3580,Legacy,GARD,,,,,,,,,,,,Methylmalonic aciduria microcephaly cataract,TRUE,FALSE,Retired +GARD:3582,Active,Orphanet,ORPHA:79283,Subtype of disorder,[Clinical subtype],"Methylmalonic acidemia with homocystinuria, type cblD","[CblD defect, Cobalamin D defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD, Methylmalonic aciduria with homocystinuria, type cblD]","cblD type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.",[277410],,,,,Methylmalonic acidemia with homocystinuria type cblD,TRUE,FALSE,Active +GARD:3584,Active,Orphanet,ORPHA:79284,Subtype of disorder,[Clinical subtype],Methylmalonic acidemia with homocystinuria type cblF,"[CblF defect, Cobalamin F defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF, Lysosomal membrane cobalamin transporter deficiency, Methylmalonic aciduria with homocystinuria, type cblF]","cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.",[277380],,,,,Methylmalonic acidemia with homocystinuria type cblF,TRUE,FALSE,Active +GARD:3586,Active,Orphanet,ORPHA:27,Disorder,[Disease],Vitamin B12-unresponsive methylmalonic acidemia,"[Methylmalonyl-CoA mutase deficiency, Methylmalonyl-Coenzyme A mutase deficiency, Vitamin B12-unresponsive methylmalonic aciduria]","Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms).",[251000],,,,,Methylmalonyl-Coenzyme A mutase deficiency,TRUE,FALSE,Active +GARD:3588,Active,Orphanet,ORPHA:29,Subtype of disorder,[Clinical subtype],Mevalonic aciduria,"[Complete mevalonate kinase deficiency, MVA]","A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.",[610377],,,,,Mevalonic aciduria,TRUE,FALSE,Active +GARD:3589,Active,Orphanet,ORPHA:2505,Disorder,[Disease],Multiple benign circumferential skin creases on limbs,"[CCSF, Circumferential skin creases, Kunze type, Congenital circumferential skin folds, Kunze-Riehm syndrome]","A rare genetic disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. The creases often improve spontaneously in childhood. Patients also exhibit variable degrees of intellectual disability, short stature, cleft palate, and facial dysmorphism (including epicanthal folds, microphthalmia, broad nasal bridge, low-set, posteriorly rotated ears, and microstomia, among others). Variable additional features have been reported, such as seizures, infantile hypotonia, hearing impairment, strabismus, and urogenital anomalies. Brain imaging may show hypoplastic corpus callosum or mildly dilated ventricles.","[156610, 616734]",,,,,Circumferential skin creases Kunze type,TRUE,FALSE,Active +GARD:359,Active,Orphanet,ORPHA:1515,Disorder,[Malformation syndrome],Cranioectodermal dysplasia,"[CED, Sensenbrenner syndrome]","Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).","[218330, 614378, 614099, 617102, 613610]",,,,,Cranioectodermal dysplasia,TRUE,FALSE,Active +GARD:3590,Legacy,GARD,,,,,,,,,,,,Michels Caskey syndrome,TRUE,FALSE,Retired +GARD:3592,Legacy,GARD,,,,,,,,,,,,Mickleson syndrome,TRUE,FALSE,Retired +GARD:3596,Active,Orphanet,ORPHA:2511,Disorder,[Malformation syndrome],Microbrachycephaly-ptosis-cleft lip syndrome,[Richieri Costa-Guion Almeida-Ramos syndrome],"Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.",[268850],,,,,Microbrachycephaly ptosis cleft lip,TRUE,FALSE,Active +GARD:360,Active,Orphanet,ORPHA:921,Disorder,[Malformation syndrome],Abruzzo-Erickson syndrome,"[CHARGE-like syndrome, Cleft palate-coloboma-deafness syndrome, Cleft palate-coloboma-hearing loss syndrome]","An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.",[302905],,,,,Abruzzo-Erickson syndrome,TRUE,FALSE,Active +GARD:3602,Active,Orphanet,ORPHA:2643,Disorder,[Malformation syndrome],"Microcephalic primordial dwarfism, Toriello type",,"A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.",[251190],,,,,Microcephalic primordial dwarfism Toriello type,TRUE,FALSE,Active +GARD:3603,Active,Orphanet,ORPHA:199642,Disorder,[Malformation syndrome],Isolated congenital microcephaly,,"A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.",,,,,,Microcephaly,TRUE,FALSE,Active +GARD:3604,Active,Orphanet,ORPHA:2513,Disorder,[Malformation syndrome],Microcephaly-albinism-digital anomalies syndrome,[Castro Gago-Pombo-Novo syndrome],"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.",[203340],,,,,Microcephaly-albinism-digital anomalies syndrome,TRUE,FALSE,Active +GARD:3605,Active,Orphanet,ORPHA:2514,Subtype of disorder,[Etiological subtype],Autosomal dominant primary microcephaly,,"A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.","[616311, 619179, 617520, 156580, 619180]",,,,,Microcephaly autosomal dominant,TRUE,FALSE,Active +GARD:3607,Active,Orphanet,ORPHA:2523,Disorder,[Malformation syndrome],Microcephaly-brain defect-spasticity-hypernatremia syndrome,[Franek-Bocker-Kahlen syndrome],"Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986.",,,,,,Microcephaly brain defect spasticity hypernatremia,TRUE,FALSE,Active +GARD:3609,Active,Orphanet,ORPHA:2515,Disorder,[Malformation syndrome],Microcephaly-cardiomyopathy syndrome,[Winship-Viljoen-Leary syndrome],"Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.",[251220],,,,,Microcephaly-cardiomyopathy,TRUE,FALSE,Active +GARD:361,Active,Orphanet,ORPHA:945,Disorder,[Malformation syndrome],Acalvaria,[Primary acalvaria],"A rare malformation characterized by missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.",,,,,,Acalvaria,TRUE,FALSE,Active +GARD:3610,Active,Orphanet,ORPHA:2522,Disorder,[Malformation syndrome],Microcephaly-cervical spine fusion anomalies syndrome,,"Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.",[251250],,,,,Microcephaly cervical spine fusion anomalies,TRUE,FALSE,Active +GARD:3611,Legacy,GARD,,,,,,,,,,,,Microcephaly chorioretinopathy recessive form,TRUE,FALSE,Active +GARD:3614,Legacy,GARD,,,,,,,,,,,,"Microcephaly, corpus callosum dysgenesis and cleft lip-palate",TRUE,FALSE,Active +GARD:3615,Active,Orphanet,ORPHA:2172,Disorder,[Malformation syndrome],Microcephaly-glomerulonephritis-marfanoid habitus syndrome,,"A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992.",[248760],,,,,Microcephaly glomerulonephritis Marfanoid habitus,TRUE,FALSE,Active +GARD:3617,Active,Orphanet,ORPHA:2558,Disorder,[Malformation syndrome],Mikati-Najjar-Sahli syndrome,[Microcephaly-hypergonadotropic hypogonadism-short stature syndrome],"Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).",,,,,,Microcephaly hypergonadotropic hypogonadism short stature,TRUE,FALSE,Retired +GARD:362,Legacy,GARD,,,,,,,,,,,,Alpha-thalassemia-abnormal morphogenesis,TRUE,FALSE,Active +GARD:3622,Active,Orphanet,ORPHA:2526,Disorder,[Malformation syndrome],Microcephaly-lymphedema-chorioretinopathy syndrome,[MLCRD],"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.",[152950],,,,,"Lymphedema, microcephaly and chorioretinopathy syndrome",TRUE,FALSE,Active +GARD:3627,Active,Orphanet,ORPHA:2528,Disorder,[Malformation syndrome],"Microcephaly-microcornea syndrome, Seemanova type",[Seemanova-Lesny syndrome],"Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.",,,,,,Microcephaly microcornea syndrome Seemanova type,TRUE,FALSE,Active +GARD:3628,Legacy,GARD,,,,,,,,,,,,Microcephaly micropenis convulsions,TRUE,FALSE,Active +GARD:3629,Legacy,GARD,,,,,,,,,,,,Microcephaly microphthalmos blindness,TRUE,FALSE,Active +GARD:363,Active,Orphanet,ORPHA:926,Disorder,[Disease],Acatalasemia,[Catalase deficiency],"A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations.",[614097],,,,,Acatalasemia,TRUE,FALSE,Active +GARD:3630,Legacy,GARD,,,,,,,,,,,,Microcephaly nonsyndromal,TRUE,FALSE,Active +GARD:3631,Legacy,GARD,,,,,,,,,,,,Microcephaly pontocerebellar hypoplasia dyskinesia,TRUE,FALSE,Retired +GARD:3632,Legacy,GARD,,,,,,,,,,,,Microcephaly seizures mental retardation heart disorders,TRUE,FALSE,Retired +GARD:3633,Legacy,GARD,,,,,,,,,,,,Microcephaly sparse hair mental retardation seizures,TRUE,FALSE,Retired +GARD:3635,Active,Orphanet,ORPHA:566,Disorder,[Malformation syndrome],Congenital microcoria,[Congenital miosis],"Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.",[156600],,,,,Congenital microcoria,TRUE,FALSE,Active +GARD:3636,Legacy,GARD,,,,,,,,,,,,Microcornea corectopia macular hypoplasia,TRUE,FALSE,Active +GARD:3637,Active,Orphanet,ORPHA:2536,Disorder,[Malformation syndrome],Microcornea-glaucoma-absent frontal sinuses syndrome,,"A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.",[156700],,,,,"Microcornea, glaucoma, and absent frontal sinuses",TRUE,FALSE,Active +GARD:3638,Legacy,GARD,,,,,,,,,,,,Microdontia hypodontia short stature,TRUE,FALSE,Active +GARD:364,Active,Orphanet,ORPHA:1134,Disorder,[Malformation syndrome],Isolated arrhinia,[Isolated nose agenesis],"An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.",,,,,,Arrhinia,TRUE,FALSE,Active +GARD:3640,Active,Orphanet,ORPHA:2538,Disorder,[Malformation syndrome],Microgastria-limb reduction defect syndrome,,"A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.",[156810],,,,,Microgastria limb reduction defect,TRUE,FALSE,Active +GARD:3642,Legacy,GARD,,,,,,,,,,,,Spondyloepimetaphyseal dysplasia micromelic,TRUE,FALSE,Active +GARD:3643,Active,Orphanet,ORPHA:93328,Subtype of disorder,[Clinical subtype],Autosomal dominant omodysplasia,,,[164745],,,,,Omodysplasia 2,TRUE,FALSE,Active +GARD:3644,Active,Orphanet,ORPHA:98938,Disorder,[Malformation syndrome],Colobomatous microphthalmia,"[MAC, Microphthalmia with colobomatous cyst, Microphthalmia-anophthalmia-coloboma syndrome]",Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.,"[616428, 251505, 300345, 614497, 613703, 615145, 611638, 610092, 601186, 605738]",,,,,Microphthalmia associated with colobomatous cyst,TRUE,FALSE,Active +GARD:3645,Active,Orphanet,ORPHA:139471,Disorder,[Malformation syndrome],Microphthalmia with brain and digit anomalies,"[Bakrania-Ragge syndrome, MCOPS6, Syndromic microphthalmia type 6]","Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.",[607932],,,,,Microphthalmia syndromic 6,TRUE,FALSE,Active +GARD:3647,Legacy,GARD,,,,,,,,,,,,Microphthalmia cataract,TRUE,FALSE,Retired +GARD:365,Active,Orphanet,ORPHA:91,Disorder,[Disease],Aromatase deficiency,[Congenital estrogen deficiency],"A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.",[613546],,,,,Aromatase deficiency,TRUE,FALSE,Active +GARD:3650,Active,Orphanet,ORPHA:2547,Disorder,[Malformation syndrome],Microphthalmia-microtia-fetal akinesia syndrome,[Thomas-Jewett-Raines syndrome],"A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.",,,,,,Microphthalmia microtia fetal akinesia,TRUE,FALSE,Active +GARD:3652,Active,Orphanet,ORPHA:727,Disorder,[Disease],Microscopic polyangiitis,"[MPA, Micropolyangiitis, Microscopic polyarteritis]","A rare inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs, including the kidney, the lungs, the skin and the peripheral nerves.",,,,,,Microscopic polyangiitis,TRUE,FALSE,Active +GARD:3653,Active,Orphanet,ORPHA:2549,Disorder,[Malformation syndrome],Oculoauriculovertebral spectrum with radial defects,"[Hemifacial microsomia-radial defects syndrome, Moeschler-Clarren syndrome]","A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.",[141400],,,,,Microsomia hemifacial radial defects,TRUE,FALSE,Active +GARD:3655,Active,Orphanet,ORPHA:2552,Disorder,[Disease],Microsporidiosis,,Microsporidiosis is a parasitosis caused by microsporidia (protozoan parasites).,,,,,,Microsporidiosis,TRUE,FALSE,Active +GARD:3657,Legacy,GARD,,,,,,,,,,,,"Microtia, meatal atresia and conductive deafness",TRUE,FALSE,Active +GARD:3659,Active,Orphanet,ORPHA:2556,Disorder,[Malformation syndrome],Microphthalmia with linear skin defects syndrome,"[MCOPS7, MIDAS syndrome, MLS syndrome, Microphthalmia-dermal aplasia-sclerocornea syndrome, Syndromic microphthalmia type 7]","MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.","[309801, 300952, 300887]",,,,,Microphthalmia with linear skin defects syndrome,TRUE,FALSE,Active +GARD:366,Legacy,GARD,,,,,,,,,,,,Arnold Stickler Bourne syndrome,TRUE,FALSE,Active +GARD:3660,Legacy,GARD,,,,,,,,,,,,Midline cleft of lower lip,TRUE,FALSE,Active +GARD:3668,Active,Orphanet,ORPHA:98919,Disorder,[Disease],Miller Fisher syndrome,"[Cranial variant of GBS, Cranial variant of Guillain-Barré syndrome, Fisher syndrome]",Miller-Fisher syndrome (MFS) is a rare cranial nerve variant of Guillain-Barré syndrome (GBS; see this term).,,,,,,Miller-Fisher syndrome,TRUE,FALSE,Active +GARD:3669,Active,Orphanet,ORPHA:531,Disorder,[Malformation syndrome],Miller-Dieker syndrome,"[Lissencephaly due to 17p13.3 deletion, Monosomy 17p13.3, Telomeric deletion 17p]","Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.",[247200],,,,,Miller-Dieker syndrome,TRUE,FALSE,Active +GARD:3670,Legacy,GARD,,,,,,,,,,,,Milner Khallouf Gibson syndrome,TRUE,FALSE,Active +GARD:3671,Active,Orphanet,ORPHA:255210,Disorder,[Disease],Mitochondrial DNA-associated Leigh syndrome,"[MILS, Maternally-inherited Leigh disease, Maternally-inherited infantile subacute necrotizing encephalopathy, mtDNA-associated Leigh syndrome]","Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.",[256000],,,,,Mitochondrial DNA-associated Leigh syndrome,TRUE,FALSE,Active +GARD:3672,Active,Orphanet,ORPHA:90031,Disorder,[Disease],Non-spherocytic hemolytic anemia due to hexokinase deficiency,,"Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in HK1, the gene that encodes red blood cell-specific hexokinase-R.",[235700],,,,,Nonspherocytic hemolytic anemia due to hexokinase deficiency,TRUE,FALSE,Active +GARD:3676,Legacy,GARD,,,,,,,,,,,,Mirror polydactyly segmentation and limbs defects,TRUE,FALSE,Active +GARD:368,Active,Orphanet,ORPHA:2407,Disorder,[Disease],Laryngo-onycho-cutaneous syndrome,"[LOC syndrome, LOGIC syndrome, Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome, Shabbir syndrome]","LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.",[245660],,,,,Laryngoonychocutaneous syndrome,TRUE,FALSE,Active +GARD:3681,Active,Orphanet,ORPHA:1933,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria","[Booth-Haworth-Dilling syndrome, Mitochondrial encephalomyopathy-aminoacidopathy syndrome, mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria]","A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria.",[612073],,,,,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",TRUE,FALSE,Active +GARD:3682,Active,Orphanet,ORPHA:2597,Disorder,[Disease],Mitochondrial myopathy-lactic acidosis-deafness syndrome,[Mitochondrial myopathy-lactic acidosis-hearing loss syndrome],"A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.",[251950],,,,,Mitochondrial myopathy with lactic acidosis,TRUE,FALSE,Active +GARD:3684,Active,Orphanet,ORPHA:746,Disorder,[Disease],Mitochondrial trifunctional protein deficiency,"[TFP deficiency, TFPD]","A rare disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..",[609015],,,,,Mitochondrial trifunctional protein deficiency,TRUE,FALSE,Active +GARD:3685,Active,Orphanet,ORPHA:1205,Disorder,[Morphological anomaly],Mitral atresia,,"A rare congenital non-syndromic heart malformation characterized by an imperforate or absent mitral valve. In most cases, there is a univentricular atrioventricular connection to a dominant right ventricle via a tricuspid valve, and a hypoplastic left ventricle. Morphologic heterogeneity is considerable, and hemodynamic picture and clinical manifestation depend on the type and severity of associated cardiovascular anomalies (such as ventricular septal defect or aortic atresia).",,,,,,Mitral atresia,TRUE,FALSE,Active +GARD:3687,Active,Orphanet,ORPHA:741,Disorder,[Morphological anomaly],Familial mitral valve prolapse,,"A rare familial congenital mitral malformation characterized by systolic displacement of one or both mitral leaflets >2 mm beyond the annular plane into the left atrium. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Patients may remain asymptomatic or develop complications such as severe mitral regurgitation, endocarditis, and heart failure.","[610840, 157700, 607829]",,,,,"Mitral valve prolapse, familial, autosomal dominant",TRUE,FALSE,Active +GARD:3688,Active,Orphanet+OMIM,OMIM:157700,Subtype of disorder,[Morphological anomaly subtype],Mitral valve prolapse 1,,"Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP ({14:Freed et al., 1999}; {16:Grau et al., 2007}; {9:Delling and Vasan, 2014}).\n\n{16:Grau et al. (2007)} provided a detailed review of the genetics of mitral valve prolapse. {9:Delling and Vasan (2014)} reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis.\n\n<Subhead> Genetic Heterogeneity of Familial Mitral Valve Prolapse\n\nThe locus for MVP1 has been mapped to chromosome 16p; the locus for MVP2 ({607829}) has been mapped to chromosome 11p.\n\nMitral valve prolapse-3 (MVP3; {610840}) is caused by mutation in the DZIP1 gene ({608671}) on chromosome 13q32.",[157700],[741],[Familial mitral valve prolapse],[3687],,"Mitral valve prolapse, familial, X-linked",TRUE,FALSE,Active +GARD:3689,Legacy,GARD,,,,,,,,,,,,Miura syndrome,TRUE,FALSE,Retired +GARD:369,Active,Orphanet,ORPHA:1435,Disorder,[Malformation syndrome],Xq21 microdeletion syndrome,"[Ayazi syndrome, Del(X)(q21), Monosomy Xq21]","An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.",[303110],,,,,Ayazi syndrome,TRUE,FALSE,Active +GARD:3690,Active,Orphanet,ORPHA:1879,Disorder,[Malformation syndrome],Melorheostosis with osteopoikilosis,"[MSBD syndrome, Mixed sclerosing bone dystrophy]","Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.",,,,,,Melorheostosis with osteopoikilosis,TRUE,FALSE,Active +GARD:3692,Active,Orphanet,ORPHA:178364,Disorder,[Malformation syndrome],Syndromic microphthalmia type 5,"[MCOPS5, Syndromic microphthalmia/anophthalmia due to OTX2 mutation]","Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.",[610125],,,,,Microphthalmia syndromic 5,TRUE,FALSE,Active +GARD:3693,Active,Orphanet,ORPHA:3434,Disorder,[Malformation syndrome],MMEP syndrome,"[MCOPS8, Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome, Syndromic microphthalmia type 8, Viljoen-Smart syndrome]","The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.",[601349],,,,,Microphthalmia syndromic 8,TRUE,FALSE,Active +GARD:3695,Legacy,GARD,,,,,,,,,,,,MN1,FALSE,FALSE,Retired +GARD:3697,Active,Orphanet,ORPHA:552,Disorder,[Disease],MODY,[Maturity-onset diabetes of the young],"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.","[616329, 616511, 125851, 613375, 606392, 610508, 612225, 609812, 606394, 613370, 125850, 600496, 606391]",,,,,Maturity-onset diabetes of the young,TRUE,FALSE,Active +GARD:3698,Active,Orphanet,ORPHA:2560,Disorder,[Malformation syndrome],Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome,,A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996.,,,,,,Moebius axonal neuropathy hypogonadism,TRUE,FALSE,Active +GARD:3699,Active,Orphanet,ORPHA:2059,Disorder,[Malformation syndrome],Fryns syndrome,[Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome],"A rare multiple congenital anomaly syndrome characterized by congenital diaphragmatic hernia (CDH) and pulmonary hypoplasia, distal limb hypoplasia and facial anomalies in addition to variable expression of additional birth defects.",[229850],,,,,Fryns syndrome,TRUE,FALSE,Active +GARD:37,Active,Orphanet,ORPHA:261875,Group of disorders,[Category],Partial deletion of the short arm of chromosome 3,"[Partial deletion of chromosome 3p, Partial monosomy of chromosome 3p, Partial monosomy of the short arm of chromosome 3]",,,,,,,Partial deletion of the short arm of chromosome 3,TRUE,FALSE,Active +GARD:370,Active,Orphanet,ORPHA:1414,Disorder,[Disease],Cholestasis-lymphedema syndrome,[Aagenaes syndrome],"Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.",[214900],,,,,Aagenaes syndrome,TRUE,FALSE,Active +GARD:3701,Active,Orphanet,ORPHA:2751,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 2,"[Mohr syndrome, OFD2, Oral-facial-digital syndrome type 2]","Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.",[252100],,,,,Orofaciodigital syndrome 2,TRUE,FALSE,Active +GARD:3703,Legacy,GARD,,,,,,,,,,,,"Dwarfism, intellectual disability and eye abnormality",TRUE,FALSE,Retired +GARD:3704,Active,Orphanet,ORPHA:1433,Disorder,[Malformation syndrome],Choroidal atrophy-alopecia syndrome,"[Moloney syndrome, Regional choroidal atrophy and alopecia]","A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.",,,,,,Moloney syndrome,TRUE,FALSE,Active +GARD:3705,Active,Orphanet,ORPHA:99732,Subtype of disorder,[Clinical subtype],Sulfite oxidase deficiency due to molybdenum cofactor deficiency,"[Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase, MOCOD]",,"[252160, 615501, 252150]",,,,,Molybdenum cofactor deficiency,TRUE,FALSE,Active +GARD:3707,Active,Orphanet,ORPHA:2564,Disorder,[Malformation syndrome],Tetramelic monodactyly,[Sommer-Hines syndrome],"Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.",[187510],,,,,Tetramelic monodactyly,TRUE,FALSE,Active +GARD:371,Active,Orphanet,ORPHA:3010,Disorder,[Disease],Qazi-Markouizos syndrome,[Dysharmonic skeletal maturation-muscular fiber disproportion syndrome],"A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be assoicated. There have been no further descriptions in the literature since 1994.",[600096],,,,,Qazi Markouizos syndrome,TRUE,FALSE,Active +GARD:3711,Active,Orphanet,ORPHA:96148,Disorder,[Malformation syndrome],Distal monosomy 10q,"[Distal deletion 10q, Monosomy 10qter, Telomeric deletion 10q]","Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.",[609625],,,,,Chromosome 10q deletion,TRUE,FALSE,Active +GARD:372,Active,Orphanet,ORPHA:638,Disorder,[Malformation syndrome],Neurofibromatosis-Noonan syndrome,"[NFNS, Neurofibromatosis type 1-Noonan syndrome]","Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).",[601321],,,,,Neurofibromatosis-Noonan syndrome,TRUE,FALSE,Active +GARD:3722,Legacy,GARD,,,,,,,,,,,,Chromosome 14q deletion,TRUE,FALSE,Active +GARD:3726,Legacy,GARD,,,,,,,,,,,,Mosaic monosomy 18,TRUE,FALSE,Active +GARD:373,Active,Orphanet,ORPHA:346,Disorder,[Disease],Quinquaud folliculitis decalvans,,"A rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.",,,,,,Quinquaud folliculitis decalvans,TRUE,FALSE,Active +GARD:3730,Legacy,GARD,,,,,,,,,,,,Chromosome 1p deletion,TRUE,FALSE,Active +GARD:3738,Active,Orphanet,ORPHA:250999,Disorder,[Malformation syndrome],1q41q42 microdeletion syndrome,"[Del(1)(q41q42), Monosomy 1q41q42]","1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.",[612530],,,,,Chromosome 1q41-q42 deletion syndrome,TRUE,FALSE,Active +GARD:3739,Legacy,GARD,,,,,,,,,,,,Chromosome 20p deletion,TRUE,FALSE,Active +GARD:374,Active,Orphanet,ORPHA:2835,Disorder,[Malformation syndrome],Pectus excavatum-macrocephaly-dysplastic nails syndrome,[Zori-Stalker-Williams syndrome],"Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.",[600399],,,,,Zori Stalker Williams syndrome,TRUE,FALSE,Active +GARD:3744,Legacy,GARD,,,,,,,,,,,,Chromosome 2q deletion,TRUE,FALSE,Active +GARD:3746,Active,Orphanet,ORPHA:1617,Disorder,[Malformation syndrome],2q24 microdeletion syndrome,"[Del(2)(q24), Monosomy 2q24]","2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.",,,,,,Chromosome 2q24 microdeletion syndrome,TRUE,FALSE,Active +GARD:375,Active,Orphanet,ORPHA:3253,Disorder,[Malformation syndrome],Cleft lip/palate-ectodermal dysplasia syndrome,"[CLPED1, Cleft lip/palate-syndactyly-pili torti syndrome, Syndactyly-ectodermal dysplasia-cleft/lip palate, Zlotogora-Ogur syndrome]","Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.",[225060],,,,,Zlotogora syndrome,TRUE,FALSE,Active +GARD:3750,Active,Orphanet,ORPHA:1620,Disorder,[Malformation syndrome],Distal monosomy 3p,"[3p- syndrome, Distal 3p deletion, Monosomy 3pter, Telomeric monosomy 3p]","Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.",[613792],,,,,Chromosome 3p- syndrome,TRUE,FALSE,Active +GARD:376,Active,Orphanet,ORPHA:931,Disorder,[Morphological anomaly],Acheiropodia,[Acheiropody],"An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.",[200500],,,,,Acheiropody,TRUE,FALSE,Active +GARD:3760,Legacy,GARD,,,,,,,,,,,,Chromosome 6q deletion,TRUE,FALSE,Active +GARD:3764,Active,Orphanet,ORPHA:251056,Disorder,[Malformation syndrome],6q25 microdeletion syndrome,"[Del(6)(q25), Monosomy 6q25]","6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.",[612863],,,,,Chromosome 6q25 microdeletion syndrome,TRUE,FALSE,Active +GARD:3765,Active,Orphanet,ORPHA:495930,Disorder,[Disease],Familial monosomy 7 syndrome,,"A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.","[252270, 619041]",,,,,Chromosome 7q deletion,TRUE,FALSE,Active +GARD:3768,Legacy,GARD,,,,,,,,,,,,Chromosome 8p deletion,TRUE,FALSE,Active +GARD:3769,Active,Orphanet,ORPHA:251071,Disorder,[Malformation syndrome],8p23.1 microdeletion syndrome,"[Del(8)(p23.1), Monosomy 8p23.1]","8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.",,,,,,Chromosome 8p23.1 deletion,TRUE,FALSE,Active +GARD:377,Active,Orphanet,ORPHA:973,Disorder,[Morphological anomaly],"Congenital absence/hypoplasia of fingers excluding thumb, unilateral","[Adactyly of hand, unilateral, Digits 2-5 hypodactyly, unilateral, Digits 2-5 oligodactyly, unilateral]","Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.",[102650],,,,,Adactylia unilateral,TRUE,FALSE,Active +GARD:3770,Legacy,GARD,,,,,,,,,,,,Chromosome 8q deletion,TRUE,FALSE,Active +GARD:3773,Active,Orphanet,ORPHA:261112,Disorder,[Malformation syndrome],Monosomy 9p,"[9p deletion syndrome, 9p- syndrome, Alfi syndrome]","Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.",[158170],,,,,Chromosome 9p deletion,TRUE,FALSE,Active +GARD:3775,Legacy,GARD,,,,,,,,,,,,X-linked susceptibility to autism-4,TRUE,FALSE,Active +GARD:3776,Legacy,GARD,,,,,,,,,,,,Chromosome Xq28 deletion syndrome,TRUE,FALSE,Retired +GARD:3777,Legacy,GARD,,,,,,,,,,,,Montefiore syndrome,TRUE,FALSE,Retired +GARD:378,Active,Orphanet,ORPHA:2316,Disorder,[Malformation syndrome],Johnson neuroectodermal syndrome,"[Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome, Alopecia-anosmia-deafness-hypogonadism syndrome, Johnson-McMillin syndrome]","Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.",[147770],,,,,Johnson neuroectodermal syndrome,TRUE,FALSE,Active +GARD:3784,Legacy,GARD,,,,,,,,,,,,Morillo-Cucci-Passarge syndrome,TRUE,FALSE,Retired +GARD:3785,Active,Orphanet,ORPHA:309297,Subtype of disorder,[Clinical subtype],Mucopolysaccharidosis type 4A,"[GALNS deficiency, Galactosamine-6-sulfatase deficiency, MPS4A, MPSIVA, Morquio disease type A, Mucopolysaccharidosis type IVA, N-acetylgalactosamine-6-sulfate sulfatase deficiency]",,[253000],,,,,Mucopolysaccharidosis type IVA,TRUE,FALSE,Active +GARD:3786,Active,Orphanet,ORPHA:309310,Subtype of disorder,[Clinical subtype],Mucopolysaccharidosis type 4B,"[Beta-D-galactosidase deficiency, MPS4B, MPSIVB, Morquio disease type B, Mucopolysaccharidosis type IVB]",,[253010],,,,,Morquio syndrome B,TRUE,FALSE,Active +GARD:3787,Active,Orphanet,ORPHA:97282,Disorder,[Disease],VIPoma,"[Diarrheogenic islet cell tumor, Pancreatic cholera, VIP-secreting tumor, Verner-Morrison syndrome, WDHA syndrome, Watery diarrhea-hypokalemia-achlorhydria syndrome]","VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).",,,,,,WDHA syndrome,TRUE,FALSE,Active +GARD:3788,Active,Orphanet,ORPHA:2570,Disorder,[Malformation syndrome],Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,[Morse-Rawnsley-Sargent syndrome],"A rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.",[306990],,,,,Morse-Rawnsley-Sargent syndrome,TRUE,FALSE,Active +GARD:379,Active,Orphanet,ORPHA:3033,Disorder,[Malformation syndrome],Renal tubular dysgenesis,"[Primitive renal tubule syndrome, Renotubular dysgenesis]","A rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat, low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects), and skull ossification defects.",[267430],,,,,Renal tubular dysgenesis,TRUE,FALSE,Active +GARD:3791,Active,Orphanet,ORPHA:2400,Disorder,[Disease],Peripheral motor neuropathy-dysautonomia syndrome,[Lisker-Garcia-Ramos syndrome],"Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.",[252320],,,,,Motor neuropathy peripheral with dysautonomia,TRUE,FALSE,Retired +GARD:3792,Legacy,GARD,,,,,,,,,,,,Motor sensory neuropathy type 1 aplasia cutis congenita,TRUE,FALSE,Retired +GARD:3793,Active,Orphanet,ORPHA:3347,Disorder,[Clinical syndrome],Mounier-Kühn syndrome,"[Congenital tracheobronchomegaly, Idiopathic tracheobronchomegaly, Tracheobronchomegaly]",A rare congenital respiratory disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.,[275300],,,,,Mounier-Kuhn syndrome,TRUE,FALSE,Active +GARD:3795,Active,Orphanet,ORPHA:2572,Disorder,[Disease],Spastic ataxia-corneal dystrophy syndrome,"[Bedouin spastic ataxia syndrome, Mousa-Al Din-Al Nassar syndrome, Spastic ataxia-ocular anomalies syndrome]","Spastic ataxia-corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.",[271320],,,,,Mousa Al din Al Nassar syndrome,TRUE,FALSE,Active +GARD:380,Active,Orphanet,ORPHA:1571,Disorder,[Malformation syndrome],Knobloch syndrome,"[Knobloch-Layer syndrome, Retinal detachment-occipital encephalocele syndrome]","A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.",[267750],,,,,Knobloch syndrome,TRUE,FALSE,Active +GARD:3800,Legacy,GARD,,,,,,,,,,,,MSBD syndrome,TRUE,FALSE,Active +GARD:3806,Active,Orphanet,ORPHA:577,Disorder,[Disease],Mucolipidosis type III,[Pseudo-Hurler polydystrophy],"A rare lysosomal disease characterized by dysmorphic features and skeletal changes, restricted joint mobility, short stature, and hand deformities (such as claw hands, stiffness of hands, carpal tunnel syndrome, inability to make fists). Most patients have normal intellectual capacity and the clinical progression is less rapid than that of mucolipidosis type II (MLII).","[252605, 252600]",,,,,Mucolipidosis III alpha/beta,TRUE,FALSE,Active +GARD:3807,Active,Orphanet,ORPHA:581,Disorder,[Disease],Mucopolysaccharidosis type 3,"[MPS3, MPSIII, Mucopolysaccharidosis type III, Sanfilippo disease]",Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.,"[252900, 252940, 252920, 252930]",,,,,Mucopolysaccharidosis type III,TRUE,FALSE,Active +GARD:381,Active,Orphanet,ORPHA:1129,Disorder,[Malformation syndrome],Arachnodactyly-abnormal ossification-intellectual disability syndrome,[Kosztolanyi syndrome],"A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.",,,,,,Kosztolanyi syndrome,TRUE,FALSE,Active +GARD:3812,Legacy,GARD,,,,,,,,,,,,Muller Barth Menger syndrome,TRUE,FALSE,Active +GARD:3818,Active,Orphanet,ORPHA:2774,Disorder,[Malformation syndrome],Multicentric carpo-tarsal osteolysis with or without nephropathy,[Idiopathic multicentric osteolysis with or without nephropathy],"A very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.",[166300],,,,,Multicentric osteolysis nephropathy,TRUE,FALSE,Retired +GARD:3820,Legacy,GARD,,,,,,,,,,,,Multifocal motor neuropathy with conduction block (retired),TRUE,FALSE,Retired +GARD:3824,Active,Orphanet,ORPHA:148,Group of disorders,[Clinical group],Multiple carboxylase deficiency,[MCD],"A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.",,,,,,Multiple carboxylase deficiency,TRUE,FALSE,Active +GARD:3826,Legacy,GARD,,,,,,,,,,,,"Multiple congenital anomalies mental retardation, growth failure and cleft lip palate",TRUE,FALSE,Retired +GARD:3829,Active,Orphanet,ORPHA:652,Disorder,[Disease],Multiple endocrine neoplasia type 1,"[MEN1, Wermer syndrome]","A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.",[131100],,,,,Multiple endocrine neoplasia type 1,TRUE,FALSE,Active +GARD:383,Active,Orphanet,ORPHA:53,Disorder,[Malformation syndrome],Albers-Schönberg osteopetrosis,[Osteopetrosis autosomal dominant type 2],A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).,[166600],,,,,Osteopetrosis autosomal dominant type 2,TRUE,FALSE,Active +GARD:3830,Active,Orphanet,ORPHA:653,Disorder,[Disease],Multiple endocrine neoplasia type 2,[MEN2],A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism.,"[162300, 155240, 171400]",,,,,Multiple endocrine neoplasia type 2,TRUE,FALSE,Active +GARD:3831,Legacy,GARD,,,,,,,,,,,,Multiple fibrofolliculoma familial,TRUE,FALSE,Active +GARD:3833,Legacy,GARD,,,,,,,,,,,,Multiple joint dislocations metaphyseal dysplasia,TRUE,FALSE,Retired +GARD:3834,Active,Orphanet,ORPHA:33108,Disorder,[Malformation syndrome],Lethal multiple pterygium syndrome,"[Autosomal recessive lethal multiple pterygium syndrome, LMPS]","A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present.",[253290],,,,,Multiple pterygium syndrome lethal type,TRUE,FALSE,Active +GARD:3836,Active,Orphanet,ORPHA:3237,Disorder,[Malformation syndrome],Multiple synostoses syndrome,"[Deafness-Hermann type symphalangism syndrome, Facio-audio-symphalangism, Hearing loss-Hermann type symphalangism syndrome, Symphalangism-brachydactyly syndrome, WL syndrome]","Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.","[186500, 610017, 612961]",,,,,Multiple synostoses syndrome 1,TRUE,FALSE,Active +GARD:3837,Legacy,GARD,,,,,,,,,,,,Multiple vertebral anomalies unusual facies,TRUE,FALSE,Retired +GARD:384,Active,Orphanet,ORPHA:978,Disorder,[Malformation syndrome],ADULT syndrome,"[Acro-dermato-ungual-lacrimal-tooth syndrome, Pigment anomaly-ectrodactyly-hypodontia syndrome]","A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.",[103285],,,,,ADULT syndrome,TRUE,FALSE,Active +GARD:3842,Legacy,GARD,,,,,,,,,,,,"Muscular dystrophy, congenital, infantile with cataract and hypogonadism",TRUE,FALSE,Active +GARD:3843,Active,Orphanet,ORPHA:258,Disorder,[Malformation syndrome],Laminin subunit alpha 2-related congenital muscular dystrophy,"[CMD1A, Congenital muscular dystrophy due to laminin alpha2 deficiency, Congenital muscular dystrophy type 1A, MDC1A, Merosin-negative congenital muscular dystrophy]","Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.","[607855, 618138]",,,,,Congenital muscular dystrophy type 1A,TRUE,FALSE,Active +GARD:3844,Active,Orphanet,ORPHA:1878,Disorder,[Disease],TRIM32-related limb-girdle muscular dystrophy R8,"[Autosomal recessive limb-girdle muscular dystrophy type 2H, LGMD due to TRIM32 deficiency, LGMD type 2H, LGMD2H, Limb-girdle muscular dystrophy due to TRIM32 deficiency, Limb-girdle muscular dystrophy type 2H, Sarcotubular myopathy, TRIM32-related LGMD R8]","A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.",[254110],,,,,Limb-girdle muscular dystrophy type 2H,TRUE,FALSE,Active +GARD:3845,Legacy,GARD,,,,,,,,,,,,"Muscular dystrophy limb girdle type 2A, Erb type",TRUE,FALSE,Active +GARD:385,Active,Orphanet,ORPHA:3473,Disorder,[Malformation syndrome],Zimmermann-Laband syndrome,"[Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome, Laband syndrome]","A rare genetic multiple congenital anomalies syndrome characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.","[135500, 618658, 616455]",,,,,Laband syndrome,TRUE,FALSE,Active +GARD:3851,Active,Orphanet,ORPHA:119,Disorder,[Disease],Beta-sarcoglycan-related limb-girdle muscular dystrophy R4,"[Autosomal recessive limb-girdle muscular dystrophy type 2E, Beta-sarcoglycan-related LGMD R4, Beta-sarcoglycanopathy, LGMD due to beta-sarcoglycan deficiency, LGMD type 2E, LGMD2E, Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency, Limb-girdle muscular dystrophy type 2E]","A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.",[604286],,,,,Limb-girdle muscular dystrophy type 2E,TRUE,FALSE,Active +GARD:3854,Legacy,GARD,,,,,,,,,,,,Muscular dystrophy white matter spongiosis,TRUE,FALSE,Active +GARD:3855,Legacy,GARD,,,,,,,,,,,,"Muscular dystrophy, congenital, merosin-positive",TRUE,FALSE,Active +GARD:3856,Active,Orphanet,ORPHA:64755,Disorder,[Disease],Becker nevus syndrome,[Pigmentary hairy epidermal nevus],"A rare, syndromic, benign, epidermal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy.",[604919],,,,,Becker nevus syndrome,TRUE,FALSE,Active +GARD:3857,Legacy,GARD,,,,,,,,,,,,Muscular fibrosis multifocal obstructed vessels,TRUE,FALSE,Active +GARD:3858,Active,Orphanet,ORPHA:715,Disorder,[Disease],Glycogen storage disease due to muscle phosphorylase kinase deficiency,"[GSD due to muscle phosphorylase kinase deficiency, GSD type 9D, GSD type 9E, GSD type IXd, GSD type IXe, Glycogen storage disease type 9D, Glycogen storage disease type 9E, Glycogen storage disease type IXd, Glycogen storage disease type IXe, Glycogenosis due to muscle phosphorylase kinase deficiency, Glycogenosis type 9D, Glycogenosis type 9E, Glycogenosis type IXd, Glycogenosis type IXe]",Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.,[300559],,,,,Muscular phosphorylase kinase deficiency,TRUE,FALSE,Active +GARD:386,Active,Orphanet,ORPHA:3301,Disorder,[Malformation syndrome],Tetraamelia-multiple malformations syndrome,[Zimmer phocomelia],"An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.","[273395, 618021]",,,,,Tetraamelia-multiple malformations syndrome,TRUE,FALSE,Active +GARD:3860,Legacy,GARD,,,,,,,,,,,,Myalgia eosinophilia associated with tryptophan,TRUE,FALSE,Retired +GARD:3862,Active,Orphanet,ORPHA:2583,Disorder,[Disease],Mycetoma,[Madura foot],Subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.,,,,,,Mycetoma,TRUE,FALSE,Active +GARD:3863,Active,Orphanet,ORPHA:2584,Disorder,[Disease],Classic mycosis fungoides,"[Mycosis fungoides, Alibert-Bazin type]","Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.",[254400],,,,,Mycosis fungoides,TRUE,FALSE,Active +GARD:3865,Active,Orphanet,ORPHA:2585,Disorder,[Malformation syndrome],Ataxia-pancytopenia syndrome,[Myelocerebellar disorder],"A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.",[159550],,,,,Myelocerebellar disorder,TRUE,FALSE,Active +GARD:3867,Legacy,GARD,,,,,,,,,,,,Myeloid splenomegaly,TRUE,FALSE,Active +GARD:3868,Active,Orphanet,ORPHA:2587,Disorder,[Disease],Myeloperoxidase deficiency,[MPO deficiency],"A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.",[254600],,,,,Myeloperoxidase deficiency,TRUE,FALSE,Active +GARD:387,Active,Orphanet,ORPHA:911,Disorder,[Disease],Combined immunodeficiency due to ZAP70 deficiency,[Zeta-associated-protein 70 deficiency],"A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.",[269840],,,,,ZAP-70 deficiency,TRUE,FALSE,Active +GARD:3872,Active,Orphanet,ORPHA:280620,Disorder,[Disease],Progressive myoclonic epilepsy type 6,"[EPM6, GOSR2-related progressive myoclonus ataxia, North Sea progressive myoclonus epilepsy, PME type 6, Progressive myoclonus epilepsy type 6]","A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.",[614018],,,,,GOSR2-related progressive myoclonus ataxia,TRUE,FALSE,Active +GARD:3873,Active,Orphanet,ORPHA:2589,Disorder,[Malformation syndrome],Myoclonus-cerebellar ataxia-deafness syndrome,[Myoclonus-cerebellar ataxia-hearing loss syndrome],"This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.",[159800],,,,,Myoclonus cerebellar ataxia deafness,TRUE,FALSE,Active +GARD:3875,Active,Orphanet,ORPHA:2590,Disorder,[Disease],Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,"[Hereditary myoclonus-progressive distal muscular atrophy syndrome, Jankovic-Rivera syndrome, SMA-PME]",Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.,[159950],,,,,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,TRUE,FALSE,Active +GARD:3876,Active,Orphanet,ORPHA:308,Disorder,[Malformation syndrome],Progressive myoclonic epilepsy type 1,"[EPM1, Progressive myoclonus epilepsy type 1, ULD, Unverricht-Lundborg disease]","A rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.","[254800, 612437, 310370]",,,,,Unverricht-Lundborg disease,TRUE,FALSE,Active +GARD:3878,Legacy,GARD,,,,,,,,,,,,Myoglobinuria dominant form,TRUE,FALSE,Retired +GARD:3879,Active,Orphanet+OMIM,OMIM:550500,Subtype of disorder,[Disease subtype],"Myoglobinuria, recurrent",,,[550500],[99845],[Genetic recurrent myoglobinuria],[16916],,Myoglobinuria recurrent,TRUE,FALSE,Active +GARD:388,Legacy,GARD,,,,,,,,,,,,"Brachial amelia, forebrain defects and facial clefts",TRUE,FALSE,Retired +GARD:3881,Active,Orphanet,ORPHA:2596,Disorder,[Disease],Myopathy and diabetes mellitus,,"A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.",[500002],,,,,Mitochondrial myopathy with diabetes,TRUE,FALSE,Active +GARD:3883,Legacy,GARD,,,,,,,,,,,,Myopathy congenital multicore with external ophthalmoplegia,TRUE,FALSE,Retired +GARD:3884,Active,Orphanet,ORPHA:2593,Disorder,[Disease],Tubular aggregate myopathy,,"A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described.","[160565, 615883]",,,,,Tubular aggregate myopathy,TRUE,FALSE,Active +GARD:3885,Active,Orphanet,ORPHA:2598,Disorder,[Disease],Mitochondrial myopathy and sideroblastic anemia,"[MLASA, Myopathy, lactic acidosis and sideroblastic anemia]","Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.","[600462, 500011, 613561]",,,,,Mitochondrial myopathy and sideroblastic anemia,TRUE,FALSE,Active +GARD:3886,Legacy,GARD,,,,,,,,,,,,Myopathy growth and mental retardation hypospadias,TRUE,FALSE,Retired +GARD:3888,Legacy,GARD,,,,,,,,,,,,Myopathy mitochondrial cataract,TRUE,FALSE,Retired +GARD:3889,Active,Orphanet,ORPHA:1358,Disorder,[Malformation syndrome],Carey-Fineman-Ziter syndrome,[Myopathy-Moebius-Robin syndrome],"Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.",[254940],,,,,Carey-Fineman-Ziter syndrome,TRUE,FALSE,Active +GARD:389,Legacy,GARD,,,,,,,,,,,,Wegmann Jones Smith syndrome,TRUE,FALSE,Retired +GARD:3892,Active,Orphanet,ORPHA:25980,Disorder,[Disease],X-linked myopathy with excessive autophagy,[XMEA],X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.,[310440],,,,,X-linked myopathy with excessive autophagy,TRUE,FALSE,Active +GARD:3896,Active,Orphanet,ORPHA:611,Disorder,[Disease],Inclusion body myositis,"[IBM, Sporadic inclusion body myositis, sIBM]","A rare degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness, starting in either the quadriceps or finger flexors and slowly progressing to include other groups of limb muscles. Distinctive histopathological features include inflammatory and degenerative features.",[147421],,,,,Inclusion body myositis,TRUE,FALSE,Active +GARD:3897,Legacy,GARD,,,,,,,,,,,,Myotonia mental retardation skeletal anomalies,TRUE,FALSE,Retired +GARD:39,Active,Orphanet,ORPHA:3466,Disorder,[Disease],WT limb-blood syndrome,,A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.,[194350],,,,,WT limb blood syndrome,TRUE,FALSE,Active +GARD:390,Active,Orphanet,ORPHA:2790,Disorder,[Malformation syndrome],"Endosteal hyperostosis, Worth type","[Autosomal dominant osteosclerosis, Worth type, Worth syndrome]","Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.",[144750],,,,,Worth type autosomal dominant osteosclerosis,TRUE,FALSE,Active +GARD:3900,Legacy,GARD,,,,,,,,,,,,Myxoma-spotty pigmentation-endocrine overactivity,TRUE,FALSE,Retired +GARD:3902,Active,Orphanet,ORPHA:2608,Disorder,[Malformation syndrome],N syndrome,,"A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (incl. dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalized skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974.",[310465],,,,,N syndrome,TRUE,FALSE,Active +GARD:3903,Active,Orphanet,ORPHA:79281,Subtype of disorder,[Clinical subtype],Alpha-N-acetylgalactosaminidase deficiency type 3,"[NAGA deficiency type 3, Schindler disease type 3]","A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.",[609241],,,,,N-acetyl-alpha-D-galactosaminidase deficiency type III,TRUE,FALSE,Active +GARD:3904,Active,Orphanet,ORPHA:647,Disorder,[Malformation syndrome],Nijmegen breakage syndrome,"[AT V1, Ataxia-telangiectasia, variant 1, Berlin breakage syndrome, Immunodeficiency-microcephaly-chromosomal instability syndrome, Microcephaly-immunodeficiency-lymphoid malignancy syndrome, NBS, Seemanova syndrome type 2]","A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies.",[251260],,,,,Nijmegen breakage syndrome,TRUE,FALSE,Active +GARD:3908,Active,Orphanet,ORPHA:2609,Disorder,[Disease],Isolated complex I deficiency,"[Isolated NADH-CoQ reductase deficiency, Isolated NADH-coenzyme Q reductase deficiency, Isolated NADH-ubiquinone reductase deficiency, Isolated mitochondrial respiratory chain complex I deficiency]","Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).","[301020, 301021, 618236, 618237, 618238, 618230, 252010, 618253, 618232, 618233, 618225, 619170, 618234, 619272, 618226, 618228, 618250, 618229, 618251, 618222, 618245, 618224, 618246, 618776, 618240, 619003, 618241, 618242]",,,,,Mitochondrial complex I deficiency,TRUE,FALSE,Active +GARD:3909,Active,Orphanet+OMIM,OMIM:250700,Subtype of disorder,[Disease subtype],Methemoglobin reductase deficiency,"[tpnh-methemoglobin reductase deficiency, Nadph-dependent methemoglobin reductase deficiency]",,[250700],[621],[Hereditary methemoglobinemia],[2659],,NADH cytochrome B5 reductase deficiency,TRUE,FALSE,Active +GARD:391,Active,Orphanet,ORPHA:2777,Disorder,[Malformation syndrome],Osteomesopyknosis,[Axial osteosclerosis],Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.,[166450],,,,,Osteomesopyknosis,TRUE,FALSE,Active +GARD:3912,Active,Orphanet,ORPHA:69087,Disorder,[Disease],Naegeli-Franceschetti-Jadassohn syndrome,"[NFJ syndrome, Naegeli syndrome]","Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.",[161000],,,,,Naegeli syndrome,TRUE,FALSE,Active +GARD:3916,Active,Orphanet+OMIM,OMIM:256040,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 1,"[Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, autoinflammation, lipodystrophy, and dermatosis syndrome, jmp syndrome, nakajo-nishimura syndrome, joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy]","This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by {1:Agarwal et al., 2010}; {6:Kitamura et al., 2011}; {2:Arima et al., 2011}).\n\nThis disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both {9:Nakajo (1939)} and {10:Nishimura et al. (1950)} contributed to the original phenotypic descriptions.\n\n<Subhead> Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome\n\nSee also PRAAS2 ({618048}), caused by mutation in the POMP gene ({613386}) on chromosome 13q12; PRAAS3 ({617591}), caused by mutation in the PSMB4 gene ({602177}) on chromosome 1q21; PRAAS4 ({619183}), caused by mutation in the PSMG2 gene ({609702}) on chromosome 18p11; and PRAAS5 ({619175}), caused by mutation in the PSMB10 gene ({176847}) on chromosome 16q22.",[256040],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,Nakajo Nishimura syndrome,TRUE,FALSE,Active +GARD:3917,Legacy,GARD,,,,,,,,,,,,Nakajo syndrome,TRUE,FALSE,Active +GARD:3919,Active,Orphanet,ORPHA:231671,Subtype of disorder,[Clinical subtype],Isolated growth hormone deficiency type IB,"[Congenital IGHD type IB, Congenital isolated GH deficiency type IB, Congenital isolated growth hormone deficiency type IB]",,"[612781, 618157]",,,,,Isolated growth hormone deficiency type 1B,TRUE,FALSE,Active +GARD:392,Legacy,GARD,,,,,,,,,,,,Weinstein Kliman Scully syndrome,TRUE,FALSE,Retired +GARD:3921,Active,Orphanet,ORPHA:231692,Subtype of disorder,[Clinical subtype],Isolated growth hormone deficiency type III,"[Congenital IGHD type III, Congenital isolated GH deficiency type III, Congenital isolated growth hormone deficiency type III, X-linked IGHD, X-linked isolated growth hormone deficiency]",,"[300123, 307200]",,,,,Isolated growth hormone deficiency type 3,TRUE,FALSE,Active +GARD:3924,Active,Orphanet,ORPHA:181393,Group of disorders,[Category],Growth hormone insensitivity syndrome,"[GHIS, Short stature due to a defect in growth hormone receptor or post-receptor pathway]","Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms).",,,,,,Growth hormone insensitivity with immunodeficiency,TRUE,FALSE,Active +GARD:3927,Active,Orphanet,ORPHA:2399,Disorder,[Malformation syndrome],Nasopalpebral lipoma-coloboma syndrome,,"A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.",[167730],,,,,Nasopalpebral lipoma coloboma syndrome,TRUE,FALSE,Active +GARD:3928,Active,Orphanet,ORPHA:99811,Subtype of disorder,[Etiological subtype],Neuronal intestinal pseudoobstruction,,Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.,[243185],,,,,"Natal teeth, intestinal pseudoobstruction and patent ductus",TRUE,FALSE,Active +GARD:3929,Active,Orphanet,ORPHA:2663,Disorder,[Malformation syndrome],Nathalie syndrome,"[Deafness-cataract-skeletal anomalies syndrome, Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome]","A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.",[255990],,,,,Nathalie syndrome,TRUE,FALSE,Active +GARD:393,Active,Orphanet,ORPHA:879,Disorder,[Disease],Tungiasis,,"Tungiasis is a parasitic skin disease caused by the female sand flea Tunga penetrans. The disease is characterized by acute (multiple white, gray, or yellowish papular or nodular lesions with brown-black-colored opening at the center and peripheral erythema) and chronic inflammation in the feet with itchy/ painful lesions. Bacterial superinfection is common and result in debilitating clinical pathology (deep ulcers, gangrene, lymphangitis and septicemia), leading to impaired physical fitness and mobility. Tungiasis also involves hyperkeratosis, fissuration, nail hypertrophy, and loss of nails.",,,,,,Tungiasis,TRUE,FALSE,Active +GARD:3931,Active,Orphanet,ORPHA:85408,Disorder,[Disease],Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,"[Juvenile polyarthritis without rheumatoid factor, Juvenile rheumatoid factor-negative polyarthritis, Rheumatoid factor-negative polyarticular JIA]",A rare form of polyarticular juvenile idiopathic arthritis characterized by childhood-onset chronic arthritis of unknown cause involving five or more joints at disease onset and absence of rheumatoid factor IgM.,,,,,,Rheumatoid factor-negative juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:3934,Legacy,GARD,,,,,,,,,,,,Neonatal ovarian cyst,TRUE,FALSE,Active +GARD:3936,Active,Orphanet,ORPHA:2849,Disorder,[Malformation syndrome],Perlman syndrome,[Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome],"Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.",[267000],,,,,Perlman syndrome,TRUE,FALSE,Active +GARD:3939,Legacy,GARD,,,,,,,,,,,,Nephronophthisis familial adult spastic quadriparesis,TRUE,FALSE,Retired +GARD:394,Active,Orphanet,ORPHA:3268,Disorder,[Malformation syndrome],Radioulnar synostosis-microcephaly-scoliosis syndrome,"[Giuffré-Tsukahara syndrome, Tsukahara syndrome]","Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.",[603438],,,,,Radioulnar synostosis-microcephaly-scoliosis syndrome,TRUE,FALSE,Active +GARD:3940,Active,Orphanet,ORPHA:2668,Disorder,[Malformation syndrome],Nephropathy-deafness-hyperparathyroidism syndrome,"[Edwards-Patton-Dilly syndrome, Nephropathy-hearing loss-hyperparathyroidism syndrome]","A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.",[256120],,,,,"Nephropathy, deafness, and hyperparathyroidism",TRUE,FALSE,Active +GARD:3942,Legacy,GARD,,,,,,,,,,,,Nephropathy familial with hyperuricemia,TRUE,FALSE,Retired +GARD:3943,Active,Orphanet,ORPHA:2669,Disorder,[Malformation syndrome],Nephrosis-deafness-urinary tract-digital malformations syndrome,"[Braun-Bayer syndrome, Nephrosis-hearing loss-urinary tract-digital malformations syndrome]","A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.",[256200],,,,,Nephrosis deafness urinary tract digital malformation,TRUE,FALSE,Active +GARD:3945,Legacy,GARD,,,,,,,,,,,,Nephrotic syndrome ocular anomalies,TRUE,FALSE,Active +GARD:3946,Active,Orphanet,ORPHA:656,Disorder,[Disease],Genetic steroid-resistant nephrotic syndrome,"[Familial idiopathic steroid-resistant nephrotic syndrome, Genetic SRNS, Hereditary steroid-resistant nephrotic syndrome]","A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course.","[618177, 615244, 616892, 619201, 618178, 616893, 301028, 600995, 603965, 256370, 615573, 618179, 616220, 616002, 616032, 610725, 613237, 603278, 614196, 619155, 614131, 616730, 615861, 618176, 612551, 607832]",,,,,Genetic steroid-resistant nephrotic syndrome,TRUE,FALSE,Active +GARD:3947,Active,Orphanet,ORPHA:657,Group of disorders,[Clinical group],Congenital isolated hyperinsulinism,"[PHHI, Persistent hyperinsulinemic hypoglycemia of infancy]","A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. Focal forms are only observed in early-onset cases of diazoxide unresponsive patients.",,,,,,Congenital hyperinsulinism,TRUE,FALSE,Active +GARD:3948,Active,Orphanet,ORPHA:3350,Disorder,[Disease],Tremor-nystagmus-duodenal ulcer syndrome,[Neuhauser-Daly-Magnelli syndrome],"Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976.",[190310],,,,,Neuhauser Daly Magnelli syndrome,TRUE,FALSE,Retired +GARD:3949,Active,Orphanet,ORPHA:2672,Disorder,[Malformation syndrome],Neuhauser-Eichner-Opitz syndrome,[Recurrent encephalophathy of childhood],"A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983.",[130950],,,,,Neuhauser Eichner Opitz syndrome,TRUE,FALSE,Retired +GARD:395,Active,Orphanet,ORPHA:1574,Disorder,[Malformation syndrome],Retinal degeneration-nanophthalmos-glaucoma syndrome,[Mackay-Shek-Carr syndrome],"Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.",[267760],,,,,"Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma",TRUE,FALSE,Active +GARD:3950,Legacy,GARD,,,,,,,,,,,,Neural crest tumor,TRUE,FALSE,Active +GARD:3953,Active,Orphanet,ORPHA:351,Disorder,[Disease],Galactosialidosis,"[Goldberg syndrome, Neuraminidase deficiency with beta-galactosidase deficiency]","Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.",[256540],,,,,Galactosialidosis,TRUE,FALSE,Active +GARD:3955,Active,Orphanet+OMIM,OMIM:162100,Subtype of disorder,[Disease subtype],"Amyotrophy, hereditary neuralgic","[brachial plexus neuropathy, hereditary, Neuritis with brachial predilection, amyotrophy, hereditary neuralgic, with predilection for brachial plexus]","Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.",[162100],[2901],[Neuralgic amyotrophy],[4228],,Hereditary neuralgic amyotrophy,TRUE,FALSE,Active +GARD:3956,Active,Orphanet,ORPHA:2388,Disorder,[Disease],Choreoacanthocytosis,"[ChAc, Chorea-acanthocytosis, Levine-Critchley syndrome]","Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.",[200150],,,,,Chorea-acanthocytosis,TRUE,FALSE,Active +GARD:3957,Active,Orphanet,ORPHA:35069,Disorder,[Disease],Infantile neuroaxonal dystrophy,"[INAD, INAD1, PLAN, Phospholipase A2-associated neurodegeneration, Seitelberger disease]","Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.","[610217, 256600]",,,,,Infantile neuroaxonal dystrophy,TRUE,FALSE,Active +GARD:3959,Legacy,GARD,,,,,,,,,,,,Neuroectodermal endocrine syndrome,TRUE,FALSE,Active +GARD:396,Active,Orphanet,ORPHA:3392,Disorder,[Disease],Tularemia,,"A rare bacterial infectious disease caused by Francisella tularensis and characterized by six major clinical presentations: ulceroglandular, glandular, oropharyngeal, oculoglandular, pneumonic, or typhoidal, depending on the route of infection. Early flu-like symptoms are common to all forms and are accompanied/followed by either a skin inoculation ulcer with localized lymphadenopathy; isolated lymphadenopathy; chronic pharyngitis with cervical lymphadenopathy; conjunctivitis with localized lymphadenopathy; lung involvement; severe systemic disease with neurological symptoms.",,,,,,Tularemia,TRUE,FALSE,Active +GARD:3963,Legacy,GARD,,,,,,,,,,,,Neuroepithelioma,TRUE,FALSE,Active +GARD:3964,Active,Orphanet,ORPHA:2673,Disorder,[Malformation syndrome],Neurofaciodigitorenal syndrome,[Freire Maia-Pinheiro-Opitz syndrome],"Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.",[256690],,,,,Neurofaciodigitorenal syndrome,TRUE,FALSE,Active +GARD:3966,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis type 3A,TRUE,FALSE,Retired +GARD:3967,Active,Orphanet,ORPHA:2678,Disorder,[Malformation syndrome],Neurofibromatosis type 6,"[Familial café-au-lait spots, Multiple café-au-lait spots, Multiple café-au-lait syndrome, NF6]","Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.",[114030],,,,,Multiple café-au-lait spots,TRUE,FALSE,Active +GARD:3969,Legacy,GARD,,,,,,,,,,,,Visceral neuropathy familial,TRUE,FALSE,Active +GARD:397,Legacy,GARD,,,,,,,,,,,,Herrmann Opitz arthrogryposis syndrome,TRUE,FALSE,Retired +GARD:3971,Active,Orphanet,ORPHA:2289,Disorder,[Disease],Neuronal intranuclear inclusion disease,,"Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.",[603472],,,,,Neuronal intranuclear inclusion disease,TRUE,FALSE,Active +GARD:3972,Active,Orphanet,ORPHA:255229,Disorder,[Disease],Navajo neurohepatopathy,[Navajo neuropathy],"A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism.",[256810],,,,,MPV17-related hepatocerebral mitochondrial DNA depletion syndrome,TRUE,FALSE,Active +GARD:3973,Active,Orphanet,ORPHA:99950,Disorder,[Disease],Charcot-Marie-Tooth disease type 4D,"[CMT4D, HMSN, Lom type, HMSN-Lom, Hereditary motor and sensory neuropathy, Lom type]","Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.",[601455],,,,,Charcot-Marie-Tooth disease type 4D,TRUE,FALSE,Active +GARD:3976,Active,Orphanet,ORPHA:970,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 2,"[Autosomal recessive sensory radicular neuropathy, HSAN2, Hereditary sensory and autonomic neuropathy type II, Neurogenic acroosteolysis]",A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves.,"[613115, 243000, 614213, 201300]",,,,,Hereditary sensory and autonomic neuropathy type 2,TRUE,FALSE,Active +GARD:3978,Legacy,GARD,,,,,,,,,,,,Neuropathy sensory spastic paraplegia,TRUE,FALSE,Retired +GARD:3979,Active,Orphanet,ORPHA:98907,Disorder,[Disease],Neutral lipid storage disease with ichthyosis,"[Dorfman-Chanarin disease, NLSDI]","A form of neutral lipid storage disease characterized by the accumulation of lipid vacuoles in leukocytes (so-called Jordan's anomaly seen in peripheral blood smears) and a variety of other cell types. The clinical picture consists of congenital ichthyosis of the congenital ichthyosiform erythroderma type together with variable multisystem involvement. Manifestations include hepatosplenomegaly, myopathy, intestinal disease, growth retardation, cataracts, sensorineural hearing loss, and intellectual disability, among others.",[275630],,,,,Chanarin-Dorfman syndrome,TRUE,FALSE,Active +GARD:398,Legacy,GARD,,,,,,,,,,,,Bagatelle Cassidy syndrome,TRUE,FALSE,Active +GARD:3981,Active,Orphanet,ORPHA:86788,Disorder,[Disease],X-linked severe congenital neutropenia,,"X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.",[300299],,,,,Severe congenital neutropenia X-linked,TRUE,FALSE,Active +GARD:3982,Active,Orphanet,ORPHA:2690,Disorder,[Disease],Neutropenia-monocytopenia-deafness syndrome,[Neutropenia-monocytopenia-hearing loss syndrome],"Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.",,,,,,Neutropenia monocytopenia deafness,TRUE,FALSE,Retired +GARD:3983,Legacy,GARD,,,,,,,,,,,,Neutropenia chronic familial,TRUE,FALSE,Active +GARD:3986,Active,Orphanet,ORPHA:624,Disorder,[Morphological anomaly],Familial multiple nevi flammei,[Familial multiple port-wine stains],"Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.",[163000],,,,,"Nevi flammei, familial multiple",TRUE,FALSE,Active +GARD:3989,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis type 3B,TRUE,FALSE,Retired +GARD:399,Active,Orphanet,ORPHA:393,Disorder,[Malformation syndrome],"46,XX testicular disorder of sex development","[46,XX testicular DSD, De la Chapelle syndrome, XX, male syndrome]","A rare disorder of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency.","[300833, 400045, 278850]",,,,,"46,XX testicular disorder of sex development",TRUE,FALSE,Active +GARD:3992,Legacy,GARD,,,,,,,,,,,,Niemann-Pick disease type C2,TRUE,FALSE,Active +GARD:3994,Active,Orphanet,ORPHA:1390,Disorder,[Malformation syndrome],Night blindness-skeletal anomalies-dysmorphism syndrome,[Hunter-Thompson-Reed syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphyc syndrome characterized by slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. There have been no further descriptions in the literature since 1979.",,,,,,Night blindness-skeletal anomalies-dysmorphism syndrome,TRUE,FALSE,Active +GARD:3995,Active,Orphanet,ORPHA:215,Disorder,[Disease],Congenital stationary night blindness,[Congenital essential nyctalopia],"Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.","[614565, 613216, 617024, 613830, 300071, 257270, 616389, 615058, 610444, 163500, 610427, 610445, 310500]",,,,,X-linked congenital stationary night blindness,TRUE,FALSE,Active +GARD:3999,Active,Orphanet,ORPHA:1884,Disorder,[Disease],Ectopia lentis-chorioretinal dystrophy-myopia syndrome,[Noble-Bass-Sherman syndrome],"A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients.",,,,,,Noble Bass Sherman syndrome,TRUE,FALSE,Active +GARD:4,Legacy,GARD,,,,,,,,,,,,Acanthocheilonemiasis,TRUE,FALSE,Active +GARD:400,Active,Orphanet,ORPHA:2067,Disorder,[Malformation syndrome],GAPO syndrome,[Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome],"A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations.",[230740],,,,,GAPO syndrome,TRUE,FALSE,Active +GARD:4001,Active,Orphanet,ORPHA:2700,Disorder,[Disease],Noma,[Cancrum oris],Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.,,,,,,Noma,TRUE,FALSE,Active +GARD:4002,Legacy,GARD,,,,,,,,,,,,Non functioning pancreatic endocrine tumor,TRUE,FALSE,Active +GARD:4003,Active,Orphanet,ORPHA:225,Disorder,[Disease],Maternally-inherited diabetes and deafness,"[MIDD, Maternally-inherited diabetes and hearing loss, Mitochondrial diabetes]",Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.,[520000],,,,,Maternally inherited diabetes and deafness,TRUE,FALSE,Active +GARD:4006,Legacy,GARD,,,,,,,,,,,,Noonan-like/multiple giant cell lesion syndrome,TRUE,FALSE,Retired +GARD:4009,Legacy,GARD,,,,,,,,,,,,Normokalemic periodic paralysis,TRUE,FALSE,Retired +GARD:4010,Active,Orphanet,ORPHA:1947,Disorder,[Disease],"Progressive epilepsy-intellectual disability syndrome, Finnish type","[CLN8 disease, Northern epilepsy variant, NCL, Northern epilepsy variant, Neuronal ceroid lipofuscinosis, Northern epilepsy variant, Northern epilepsy]","Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.",[610003],,,,,Northern epilepsy,TRUE,FALSE,Active +GARD:4011,Active,Orphanet,ORPHA:79293,Subtype of disorder,[Clinical subtype],Familial LCAT deficiency,"[Complete LCAT deficiency, FLD, Norum disease]","Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.",[245900],,,,,Familial LCAT deficiency,TRUE,FALSE,Active +GARD:4014,Active,Orphanet,ORPHA:2703,Disorder,[Malformation syndrome],Port-wine nevi-mega cisterna magna-hydrocephalus syndrome,[Nova syndrome],"A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.",,,,,,Nova syndrome,TRUE,FALSE,Retired +GARD:4015,Legacy,GARD,,,,,,,,,,,,Novak syndrome,TRUE,FALSE,Retired +GARD:4016,Legacy,GARD,,,,,,,,,,,,Neural tube defects,FALSE,FALSE,Active +GARD:4017,Active,Orphanet,ORPHA:198,Disorder,[Disease],Occipital horn syndrome,,"A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable.",[304150],,,,,Occipital horn syndrome,TRUE,FALSE,Active +GARD:4018,Active,Orphanet,ORPHA:268861,Disorder,[Morphological anomaly],Primary tethered cord syndrome,[Primary tethered spinal cord syndrome],"Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.",,,,,,Tethered cord syndrome,TRUE,FALSE,Active +GARD:402,Active,Orphanet+OMIM,OMIM:165199,Subtype of disorder,[Disease subtype],"Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant",,"{1:Hagemoser et al. (1989)} reported 2 unrelated families with a disorder characterized by optic atrophy, hearing loss, and peripheral neuropathy. In the first family, there were 13 affected members spanning 4 generations with an instance of male-to-male transmission. Most patients had onset of bilateral hearing loss and visual loss with optic atrophy by school-age. Onset of neurologic features occurred only in a subset of patients as adults, and consisted primarily of decreased vibratory sensation and hyporeflexia in the lower limbs. Nerve conduction velocities suggested an axonal sensory and motor neuropathy. The second family had 3 affected members in 3 generations. Optic atrophy was recognized in the first decade of life. The proband had visual loss at school age and hearing loss by age 13 years. Decreased distal sensation developed as an adult. {1:Hagemoser et al. (1989)} concluded that this disorder showed autosomal dominant inheritance with initial presentation of optic atrophy.\n\nSee {311070} and {258650} for an X-linked and a possible autosomal recessive form of the disorder, respectively.",[165199],[1215],[Autosomal dominant optic atrophy plus syndrome],[5243],,"Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy",TRUE,FALSE,Retired +GARD:4021,Legacy,GARD,,,,,,,,,,,,Oculo-cerebral dysplasia,TRUE,FALSE,Active +GARD:4022,Legacy,GARD,,,,,,,,,,,,Oculo cerebro acral syndrome,TRUE,FALSE,Retired +GARD:4023,Legacy,GARD,,,,,,,,,,,,Oculo cerebro osseous syndrome,TRUE,FALSE,Retired +GARD:4025,Legacy,GARD,,,,,,,,,,,,Oculo digital syndrome,TRUE,FALSE,Active +GARD:4028,Legacy,GARD,,,,,,,,,,,,Oculo skeletal renal syndrome,TRUE,FALSE,Active +GARD:4031,Active,Orphanet,ORPHA:398156,Disorder,[Malformation syndrome],Oculoauriculofrontonasal syndrome,[OAFNS],"Oculoauriculofrontonasal syndrome is a rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.",[601452],,,,,Oculoauriculofrontonasal syndrome,TRUE,FALSE,Active +GARD:4034,Active,Orphanet,ORPHA:2720,Disorder,[Malformation syndrome],"Oculocerebral hypopigmentation syndrome, Preus type",,"Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.",[257790],,,,,Oculocerebral hypopigmentation syndrome type Preus,TRUE,FALSE,Active +GARD:4037,Active,Orphanet,ORPHA:352731,Disorder,[Disease],Oculocutaneous albinism type 1,[OCA1],"A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).","[606952, 203100]",,,,,Oculocutaneous albinism type 1,TRUE,FALSE,Active +GARD:4038,Active,Orphanet,ORPHA:79432,Disorder,[Disease],Oculocutaneous albinism type 2,[OCA2],"A form of oculocutaneous albinism characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.",[203200],,,,,Oculocutaneous albinism type 2,TRUE,FALSE,Active +GARD:4039,Active,Orphanet,ORPHA:79433,Disorder,[Disease],Oculocutaneous albinism type 3,"[OCA3, Red oculocutaneous albinism, Rufous oculocutaneous albinism, Xanthous oculocutaneous albinism]",A form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.,[203290],,,,,Oculocutaneous albinism type 3,TRUE,FALSE,Active +GARD:404,Active,Orphanet,ORPHA:2786,Disorder,[Malformation syndrome],Osteoporosis-oculocutaneous hypopigmentation syndrome,"[Hernández-Fragoso syndrome, OOCHS]","A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported.",[601220],,,,,Osteoporosis oculocutaneous hypopigmentation syndrome,TRUE,FALSE,Active +GARD:4043,Legacy,GARD,,,,,,,,,,,,Oculodentodigital dysplasia dominant,TRUE,FALSE,Active +GARD:4045,Legacy,GARD,,,,,,,,,,,,Oculodentoosseous dysplasia recessive,TRUE,FALSE,Active +GARD:4046,Active,Orphanet,ORPHA:1794,Disorder,[Malformation syndrome],Oculomaxillofacial dysostosis,[Richieri-Costa-Gorlin syndrome],"Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.",,,,,,Oculomaxillofacial dysostosis,TRUE,FALSE,Active +GARD:4047,Active,Orphanet,ORPHA:1154,Disorder,[Malformation syndrome],Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,"[Distal arthrogryposis type 5, Distal arthrogryposis type IIB, Distal arthrogryposis with ophthalmoplegia, Oculomelic amyoplasia]","An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.",[108145],,,,,Distal arthrogryposis type 5,TRUE,FALSE,Active +GARD:4049,Active,Orphanet+OMIM,OMIM:257920,Subtype of disorder,[Malformation syndrome subtype],3mc syndrome 1,"[michels syndrome, formerly, Oculopalatoskeletal syndrome, craniosynostosis with lid anomalies]","The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by {10:Rooryck et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of 3MC Syndrome\n\nAlso see 3MC syndrome-2 (3MC2; {265050}), caused by mutation in the COLEC11 gene ({612502}), and 3MC syndrome-3 (3MC3; {248340}), caused by mutation in the COLEC1 gene ({607620}).",[257920],[293843],[3MC syndrome],[1118],,Michels syndrome,TRUE,FALSE,Retired +GARD:405,Active,Orphanet,ORPHA:3191,Disorder,[Malformation syndrome],Subaortic stenosis-short stature syndrome,[Onat syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.",[271960],,,,,Subaortic stenosis short stature syndrome,TRUE,FALSE,Active +GARD:4050,Active,Orphanet,ORPHA:2715,Disorder,[Malformation syndrome],Severe oculo-renal-cerebellar syndrome,"[Hunter-Jurenka-Thompson syndrome, ORC syndrome, Oculorenocerebellar syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982.",[257970],,,,,Oculorenocerebellar syndrome,TRUE,FALSE,Active +GARD:4051,Active,Orphanet,ORPHA:2722,Disorder,[Malformation syndrome],Odonto-onycho dysplasia-alopecia syndrome,,"Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.",,,,,,Odonto onycho dysplasia with alopecia,TRUE,FALSE,Active +GARD:4053,Active,Orphanet,ORPHA:1811,Disorder,[Malformation syndrome],Odontomicronychial dysplasia,,"Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.",[601319],,,,,Odontomicronychial dysplasia,TRUE,FALSE,Active +GARD:4054,Active,Orphanet,ORPHA:2721,Disorder,[Disease],Odonto-onycho-dermal dysplasia,[OODD],"A rare, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis).",[257980],,,,,Odontoonychodermal dysplasia,TRUE,FALSE,Active +GARD:406,Active,Orphanet,ORPHA:2253,Disorder,[Disease],Foveal hypoplasia-presenile cataract syndrome,[O'Donnell-Pappas syndrome],"Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.",[136520],,,,,O Donnell Pappas syndrome,TRUE,FALSE,Active +GARD:4060,Active,Orphanet,ORPHA:2755,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 8,"[OFD8, Oral-facial-digital syndrome type 8, Oral-facial-digital syndrome, Edwards type, Orofaciodigital syndrome, Edwards type]","Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.",[300484],,,,,Orofaciodigital syndrome 8,TRUE,FALSE,Active +GARD:4061,Active,Orphanet,ORPHA:2756,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 10,"[Figuera syndrome, OFD10, Oral-facial-digital syndrome type 10, Orofaciodigital syndrome with fibular aplasia]","Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.",[165590],,,,,Orofaciodigital syndrome 10,TRUE,FALSE,Active +GARD:4062,Active,Orphanet,ORPHA:1186,Disorder,[Disease],Infantile-onset spinocerebellar ataxia,"[IOSCA, Ohaha syndrome, Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome]",Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.,[271245],,,,,Infantile onset spinocerebellar ataxia,TRUE,FALSE,Active +GARD:4064,Active,Orphanet,ORPHA:2729,Disorder,[Malformation syndrome],Okamoto syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe developmental delay and intellectual disability, generalized hypotonia, growth failure, hydronephrosis, cardiac anomalies, and dysmorphic craniofacial features (such as microcephaly, hypertrichosis, synophrys, long eyelashes, epicanthus, flat nasal bridge, short, upturned nose, long philtrum, low-set ears, open-mouth appearance, full lower lip, cleft palate, and webbed neck). Thin corpus callosum, tethered spinal cord, intestinal malrotation, anal stenosis, and uterus didelphys have also been reported.",[604916],,,,,Okamoto syndrome,TRUE,FALSE,Active +GARD:4065,Active,Orphanet,ORPHA:2730,Disorder,[Malformation syndrome],Postaxial tetramelic oligodactyly,,"Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.",[176240],,,,,Oligodactyly tetramelic postaxial,TRUE,FALSE,Active +GARD:4066,Active,Orphanet,ORPHA:2260,Disorder,[Morphological anomaly],Oligomeganephronia,[Oligomeganephronic renal hypoplasia],A rare kidney malformation characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.,,,,,,Oligomeganephronic renal hypoplasia,TRUE,FALSE,Active +GARD:4069,Active,Orphanet,ORPHA:2920,Disorder,[Malformation syndrome],Oliver syndrome,[Postaxial polydactyly-intellectual disability syndrome],"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.",[258200],,,,,Oliver syndrome,TRUE,FALSE,Active +GARD:407,Active,Orphanet,ORPHA:999,Disorder,[Malformation syndrome],Ermine phenotype,"[O'Doherty syndrome, Pigmentary disorder with deafness, Pigmentary disorder with hearing loss]","A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.",[227010],,,,,Ermine phenotype,TRUE,FALSE,Active +GARD:4070,Active,Orphanet,ORPHA:2732,Disorder,[Malformation syndrome],Olivopontocerebellar atrophy-deafness syndrome,[Olivopontocerebellar atrophy-hearing loss syndrome],"Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.",,,,,,Olivopontocerebellar atrophy deafness,TRUE,FALSE,Active +GARD:4071,Active,Orphanet,ORPHA:98755,Disorder,[Disease],Spinocerebellar ataxia type 1,[SCA1],"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.",[164400],,,,,Spinocerebellar ataxia 1,TRUE,FALSE,Active +GARD:4072,Active,Orphanet,ORPHA:98756,Disorder,[Disease],Spinocerebellar ataxia type 2,[SCA2],"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.",[183090],,,,,Spinocerebellar ataxia 2,TRUE,FALSE,Active +GARD:4075,Active,Orphanet,ORPHA:659,Disorder,[Disease],Mutilating palmoplantar keratoderma with periorificial keratotic plaques,"[Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques, Olmsted syndrome, Palmoplantar and periorificial keratoderma]",A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.,"[619208, 614594, 300918]",,,,,Olmsted syndrome,TRUE,FALSE,Active +GARD:4076,Active,Orphanet,ORPHA:93329,Subtype of disorder,[Clinical subtype],Autosomal recessive omodysplasia,[Micromelic dysplasia-dislocation of radius syndrome],,[258315],,,,,Omodysplasia 1,TRUE,FALSE,Active +GARD:4079,Active,Orphanet,ORPHA:2736,Disorder,[Malformation syndrome],Lethal omphalocele-cleft palate syndrome,[Czeizel syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy.",[258320],,,,,Omphalocele cleft palate syndrome lethal,TRUE,FALSE,Active +GARD:408,Active,Orphanet,ORPHA:629,Subtype of disorder,[Clinical subtype],Short stature due to growth hormone qualitative anomaly,[Kowarski syndrome],"Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.",[262650],,,,,Kowarski syndrome,TRUE,FALSE,Active +GARD:4080,Active,Orphanet,ORPHA:93929,Subtype of disorder,[Clinical subtype],Cloacal exstrophy,"[OEIS complex, Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome]","A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.",[258040],,,,,"Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex",TRUE,FALSE,Active +GARD:4081,Active,Orphanet,ORPHA:490,Disorder,[Morphological anomaly],Omphalomesenteric cyst,,"A rare non-syndromic diaphragmatic or abdominal wall malformation, a remnant of omphalomesenteric duct, characterized by cuboidal or columnar epithelium with gastrointestinal differentiation. Patients may be asymptomatic or present with infraumbilical mass, umbilical lesion with secretions, abdominal pain, hernia, abscess, gastrointestinal tract bleeding, intestinal obstruction, and acute abdomen.",,,,,,Omphalomesenteric cyst,TRUE,FALSE,Active +GARD:4083,Active,Orphanet,ORPHA:1487,Disorder,[Malformation syndrome],Cooks syndrome,"[Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome, ODP]",Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.,[106995],,,,,Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges,TRUE,FALSE,Active +GARD:4085,Active,Orphanet,ORPHA:221046,Disorder,[Disease],Poikiloderma with neutropenia,"[Poikiloderma with neutropenia, Clericuzio type]","Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.",[604173],,,,,Poikiloderma with neutropenia,TRUE,FALSE,Active +GARD:4087,Legacy,GARD,,,,,,,,,,,,Opthalmic icthyosis,TRUE,FALSE,Retired +GARD:4089,Legacy,GARD,,,,,,,,,,,,Opthalmomandibulomelic dysplasia,TRUE,FALSE,Active +GARD:409,Active,Orphanet,ORPHA:2798,Disorder,[Malformation syndrome],Pachygyria-intellectual disability-epilepsy syndrome,[Kuzniecky syndrome],"A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.",[600176],,,,,Pachygyria-intellectual disability-epilepsy syndrome,TRUE,FALSE,Active +GARD:4090,Legacy,GARD,,,,,,,,,,,,Ophthalmoplegia myalgia tubular aggregates,TRUE,FALSE,Retired +GARD:4092,Legacy,GARD,,,,,,,,,,,,Opthalmoplegia mental retardation lingua scrotalis,TRUE,FALSE,Retired +GARD:4093,Legacy,GARD,,,,,,,,,,,,Opthalmoplegia progressive external scoliosis,TRUE,FALSE,Retired +GARD:4098,Active,Orphanet,ORPHA:2746,Disorder,[Disease],Opsismodysplasia,,Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.,[258480],,,,,Opsismodysplasia,TRUE,FALSE,Active +GARD:4101,Legacy,GARD,,,,,,,,,,,,Optic atrophy opthalmoplegia ptosis deafness myopia,TRUE,FALSE,Retired +GARD:4102,Legacy,GARD,,,,,,,,,,,,Optic atrophy polyneuropathy deafness,TRUE,FALSE,Active +GARD:4106,Active,Orphanet,ORPHA:1475,Disorder,[Malformation syndrome],Renal coloboma syndrome,"[Coloboma of optic nerve with renal disease, Papillo-renal syndrome]",A genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.,[120330],,,,,Renal coloboma syndrome,TRUE,FALSE,Active +GARD:4107,Active,Orphanet,ORPHA:2086,Disorder,[Disease],Optic pathway glioma,,"Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1, see this term).",,,,,,Optic pathway glioma,TRUE,FALSE,Active +GARD:4108,Legacy,GARD,,,,,,,,,,,,Opticoacoustic nerve atrophy dementia,TRUE,FALSE,Retired +GARD:411,Active,Orphanet,ORPHA:2323,Disorder,[Malformation syndrome],Sanjad-Sakati syndrome,"[HRD syndrome, Hypoparathyroidism-intellectual disability-dysmorphism syndrome, Hypoparathyroidism-short stature-intellectual disability-seizures syndrome, Richardson-Kirk syndrome, SSS]","Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.",[241410],,,,,Hypoparathyroidism-intellectual disability-dysmorphism syndrome,TRUE,FALSE,Active +GARD:4114,Legacy,GARD,,,,,,,,,,,,Organic mood syndrome,TRUE,FALSE,Active +GARD:4116,Active,Orphanet,ORPHA:2749,Group of disorders,[Clinical group],Oromandibular-limb hypogenesis syndrome,[Oroacral syndrome],"Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).",,,,,,Oro-mandibular-limb hypogenesis syndrome,TRUE,FALSE,Active +GARD:4118,Active,Orphanet,ORPHA:141000,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 11,"[OFD11, Oral-facial-digital syndrome type 11, Oral-facial-digital syndrome, Gabrielli type, Orofaciodigital syndrome, Gabrielli type]","Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.",[612913],,,,,Orofaciodigital syndrome 11,TRUE,FALSE,Active +GARD:4119,Active,Orphanet,ORPHA:85286,Disorder,[Malformation syndrome],"X-linked intellectual disability, Shashi type",[Syndromic X-linked intellectual disability type 11],"X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.",[300238],,,,,"X-linked intellectual disability, Shashi type",TRUE,FALSE,Active +GARD:412,Active,Orphanet,ORPHA:1221,Disorder,[Disease],Cheilitis glandularis,,A rare skin disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.,[118330],,,,,Cheilitis glandularis,TRUE,FALSE,Active +GARD:4120,Active,Orphanet,ORPHA:2919,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 5,"[OFD5, Oral-facial-digital syndrome type 5, Orofaciodigital syndrome, Thurston type, Polydactyly postaxial with median cleft of upper lip, Thurston syndrome]","A rare orofaciodigital syndrome characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).",[174300],,,,,Orofaciodigital syndrome 5,TRUE,FALSE,Active +GARD:4121,Active,Orphanet,ORPHA:2750,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 1,"[OFD1, OFDI, OFDSI, Oral-facial-digital syndrome type 1, Papillon-Léage-Psaume syndrome]","Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.",[311200],,,,,Orofaciodigital syndrome 1,TRUE,FALSE,Active +GARD:4129,Active,Orphanet,ORPHA:2760,Disorder,[Malformation syndrome],OSLAM syndrome,[Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome],"A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.",[165660],,,,,Oslam syndrome,TRUE,FALSE,Active +GARD:413,Active,Orphanet,ORPHA:2078,Disorder,[Malformation syndrome],Geroderma osteodysplastica,,"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.",[231070],,,,,Geroderma osteodysplastica,TRUE,FALSE,Active +GARD:4130,Active,Orphanet,ORPHA:1427,Disorder,[Disease],Otospondylomegaepiphyseal dysplasia,[OSMED],"Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.",[215150],,,,,OSMED Syndrome,TRUE,FALSE,Active +GARD:4131,Active,Orphanet,ORPHA:3314,Disorder,[Disease],"Thiemann disease, familial form","[Aseptic necrosis of phalangeal epiphyses, Osteochondrosis of phalangeal epiphyses]","A very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.",[165700],,,,,Osteoarthropathy of fingers familial,TRUE,FALSE,Active +GARD:4133,Active,Orphanet,ORPHA:251262,Disorder,[Disease],Familial osteochondritis dissecans,[Osteochondritis dissecans and short stature],"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.",[165800],,,,,Familial osteochondritis dissecans,TRUE,FALSE,Active +GARD:4136,Active,Orphanet,ORPHA:2769,Disorder,[Malformation syndrome],"Familial osteodysplasia, Anderson type",,"Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.",[259250],,,,,Osteodysplasia familial Anderson type,TRUE,FALSE,Active +GARD:4138,Legacy,GARD,,,,,,,,,,,,Osteoectasia familial,TRUE,FALSE,Retired +GARD:4139,Active,Orphanet,ORPHA:2772,Disorder,[Malformation syndrome],Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,,"A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal in utero or shortly after birth. There have been no further descriptions in the literature since 1978.",[259410],,,,,Osteogenesis imperfecta congenita microcephaly and cataracts,TRUE,FALSE,Retired +GARD:414,Active,Orphanet,ORPHA:1226,Disorder,[Malformation syndrome],Bamforth-Lazarus syndrome,"[Athyroidal hypothyroidism-spiky hair-cleft palate syndrome, Bamforth syndrome, Hypothyroidism-cleft palate syndrome]","A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.",[241850],,,,,Bamforth syndrome,TRUE,FALSE,Active +GARD:4142,Active,Orphanet,ORPHA:2645,Disorder,[Malformation syndrome],Osteoglosphonic dysplasia,[Osteoglophonic dwarfism],"A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.",[166250],,,,,Osteoglophonic dysplasia,TRUE,FALSE,Active +GARD:4144,Legacy,GARD,,,,,,,,,,,,Autosomal recessive distal osteolysis syndrome,TRUE,FALSE,Active +GARD:4148,Active,Orphanet,ORPHA:2780,Disorder,[Malformation syndrome],Osteopathia striata-cranial sclerosis syndrome,"[Hyperostosis generalisata with striations, Robinow-Unger syndrome]","Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.",[300373],,,,,Osteopathia striata with cranial sclerosis,TRUE,FALSE,Active +GARD:415,Active,Orphanet,ORPHA:2985,Disorder,[Malformation syndrome],Pseudoprogeria syndrome,"[Absent eyebrows and eyelashes-intellectual disability syndrome, Hal-Berg-Rudolph syndrome]","A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.",[200130],,,,,Pseudoprogeria syndrome,TRUE,FALSE,Active +GARD:4151,Active,Orphanet,ORPHA:2783,Disorder,[Malformation syndrome],Autosomal dominant osteopetrosis type 1,,A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.,[607634],,,,,Osteopetrosis autosomal dominant type 1,TRUE,FALSE,Active +GARD:4153,Active,Orphanet+OMIM,OMIM:259720,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 5","[Osteopetrosis, infantile malignant 3]","Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life ({7:Quarello et al., 2004}).",[259720],[85179],[Infantile osteopetrosis with neuroaxonal dysplasia],[10082],,Osteopetrosis autosomal recessive 5,TRUE,FALSE,Active +GARD:4154,Active,Orphanet,ORPHA:2785,Disorder,[Disease],Osteopetrosis with renal tubular acidosis,"[Carbonic anhydrase 2 deficiency, Guibaud-Vainsel syndrome, Marble brain disease, Mixed RTA, Mixed renal tubular acidosis, Renal tubular acidosis type 3]","Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.","[267200, 259730]",,,,,Osteopetrosis autosomal recessive 3,TRUE,FALSE,Active +GARD:4155,Active,Orphanet,ORPHA:2781,Group of disorders,[Clinical group],Osteopetrosis and related disorders,,"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.",,,,,,Osteopetrosis,TRUE,FALSE,Active +GARD:4156,Active,Orphanet,ORPHA:210110,Disorder,[Malformation syndrome],Intermediate osteopetrosis,[Autosomal recessive intermediate osteopetrosis],"Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.",[611497],,,,,Osteopetrosis autosomal recessive 6,TRUE,FALSE,Active +GARD:4157,Active,Orphanet+OMIM,OMIM:259710,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 2","[Osteopetrosis, osteoclast-poor, osteopetrosis, mild autosomal recessive form]",,[259710],[667],[Autosomal recessive malignant osteopetrosis],[15012],,Osteopetrosis autosomal recessive 2,TRUE,FALSE,Active +GARD:4158,Legacy,GARD,,,,,,,,,,,,Osteopoikilosis,TRUE,FALSE,Active +GARD:4160,Active,Orphanet,ORPHA:2788,Disorder,[Disease],Osteoporosis-pseudoglioma syndrome,"[OPPG, Ocular form of osteogenesis imperfecta]",Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.,[259770],,,,,Osteoporosis-pseudoglioma syndrome,TRUE,FALSE,Active +GARD:4163,Active,Orphanet,ORPHA:79093,Disorder,[Malformation syndrome],Foix-Alajouanine syndrome,"[Angiodysgenetic necrotizing myelopathy, Familial osteosclerosis with abnormalities of the nervous system and meninges, Subacute angiohypertrophic myelomalacia, Subacute ascending necrotizing myelitis, Subacute necrotizing myelitis]","Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years.",,,,,,Osteosclerosis abnormalities of nervous system and meninges,TRUE,FALSE,Retired +GARD:4166,Active,Orphanet,ORPHA:1338,Disorder,[Malformation syndrome],Heart defect-tongue hamartoma-polysyndactyly syndrome,[Ostravik-Lindemann-Solberg syndrome],"A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.",[217085],,,,,Heart defect-tongue hamartoma-polysyndactyly syndrome,TRUE,FALSE,Active +GARD:4168,Active,Orphanet,ORPHA:2791,Disorder,[Malformation syndrome],Otodental syndrome,"[Globodontia, Otodental dysplasia]",Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.,[166750],,,,,Otodental dysplasia,TRUE,FALSE,Active +GARD:4169,Active,Orphanet,ORPHA:2792,Disorder,[Malformation syndrome],Otofaciocervical syndrome,"[Fara-Chlupackova syndrome, OFC syndrome]","Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.","[166780, 615560]",,,,,Otofaciocervical syndrome,TRUE,FALSE,Active +GARD:417,Legacy,GARD,,,,,,,,,,,,Aloi Tomasini Isaia syndrome,TRUE,FALSE,Retired +GARD:4170,Active,Orphanet,ORPHA:2793,Disorder,[Malformation syndrome],Otoonychoperoneal syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.",[259780],,,,,Otoonychoperoneal syndrome,TRUE,FALSE,Active +GARD:4174,Legacy,GARD,,,,,,,,,,,,"Otosclerosis, familial",TRUE,FALSE,Active +GARD:4176,Active,Orphanet,ORPHA:1179,Disorder,[Disease],Benign paroxysmal tonic upgaze of childhood with ataxia,[Ouvrier-Billson syndrome],"Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.",[168885],,,,,Ouvrier Billson syndrome,TRUE,FALSE,Active +GARD:4179,Legacy,GARD,,,,,,,,,,,,Ovarian insufficiency due to FSH resistance,TRUE,FALSE,Retired +GARD:418,Active,Orphanet,ORPHA:2843,Disorder,[Disease],Pentosuria,"[Essential pentosuria, Xylitol dehydrogenase deficiency]",Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.,[260800],,,,,Pentosuria,TRUE,FALSE,Active +GARD:4181,Legacy,GARD,,,,,,,,,,,,Overgrowth radial ray defect arthrogryposis,TRUE,FALSE,Retired +GARD:4183,Active,Orphanet,ORPHA:3203,Disorder,[Disease],Overhydrated hereditary stomatocytosis,,Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.,[185000],,,,,Overhydrated hereditary stomatocytosis,TRUE,FALSE,Active +GARD:4188,Legacy,GARD,,,,,,,,,,,,Pachyonychia congenita type 2,TRUE,FALSE,Retired +GARD:4189,Active,Orphanet,ORPHA:1952,Disorder,[Malformation syndrome],Epiphyseal stippling-osteoclastic hyperplasia syndrome,[Pacman dysplasia],"A rare disorder characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.",[167220],,,,,Pacman dysplasia,TRUE,FALSE,Active +GARD:4191,Legacy,GARD,,,,,,,,,,,,"Paget disease of bone, familial",TRUE,FALSE,Active +GARD:4192,Active,Orphanet,ORPHA:2800,Disorder,[Disease],Extramammary Paget disease,,"A rare skin tumor characterized by predominantly intraepithelial growth of an adenocarcinoma which may either arise primarily in the skin (primary extramammary Paget disease) or result from intraepithelial spread of a visceral carcinoma (secondary extramammary Paget disease). The lesion is typically located in the anogenital region, presenting as a scaly, oozing, pruritic or painful erythematous plaque often resembling eczema. It may exhibit an invasive component with a significant risk of lymph node metastasis.",[167300],,,,,Extramammary Paget disease,TRUE,FALSE,Active +GARD:4195,Legacy,GARD,,,,,,,,,,,,Pagon Stephan syndrome,TRUE,FALSE,Active +GARD:4198,Legacy,GARD,,,,,,,,,,,,Palant cleft palate syndrome,TRUE,FALSE,Active +GARD:4199,Active,Orphanet,ORPHA:2184,Disorder,[Malformation syndrome],Hydrocephaly-low insertion umbilicus syndrome,[Palmer-Pagon syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993.",,,,,,Palmer Pagon syndrome,TRUE,FALSE,Active +GARD:42,Active,Orphanet,ORPHA:3310,Disorder,[Malformation syndrome],Tetrasomy 9p,[Isochromosome 9p],"Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).",,,,,,Tetrasomy 9p,TRUE,FALSE,Active +GARD:420,Active,Orphanet+OMIM,OMIM:276300,Subtype of disorder,[Disease subtype],Mismatch repair cancer syndrome 1,"[Constitutional mismatch repair deficiency syndrome, childhood cancer syndrome, brain tumor-polyposis syndrome 1, mmr deficiency, turcot syndrome, btp1 syndrome, mismatch repair deficiency]","Mismatch repair cancer syndrome (MMRCS) is a rare autosomal recessive childhood cancer predisposition syndrome with 4 main tumor types: hematologic malignancies, brain/central nervous system tumors, colorectal tumors and multiple intestinal polyps, and other malignancies including embryonic tumors and rhabdomyosarcoma. Many patients show signs reminiscent of neurofibromatosis type I (NF1; {162200}), particularly multiple cafe-au-lait macules (summary by {1:Baas et al., 2013}).\n\n{31:Wimmer and Etzler (2008)} provided a review of the mismatch cancer repair syndrome and suggested that the prevalence may be underestimated.\n\n<Subhead> Genetic Heterogeneity of Mismatch Repair Cancer Syndrome\n\nMMRCS2 ({619096}) is caused by mutation in the MSH2 gene ({609309}) on chromosome 2p21-p16. MMRCS3 ({619097}) is caused by mutation in the MSH6 gene ({600678}) on chromosome 2p16. MMRCS4 ({619101}) is caused by mutation in the PMS2 gene ({600259}) on chromosome 7p22.\n\nPatients with familial adenomatous polyposis (FAP; {175100}), an autosomal dominant disorder that results from heterozygous mutations in the APC gene, may also develop brain tumors or extracolonic malignancies, resulting in a similar clinical phenotype.\n\nHeterozygous mutations in the MMR genes result in hereditary nonpolyposis colorectal cancer (see, e.g., HNPCC1, {120435}).",[276300],[252202],[Constitutional mismatch repair deficiency syndrome],[17217],,Turcot syndrome,TRUE,FALSE,Active +GARD:4203,Active,Orphanet,ORPHA:2805,Disorder,[Morphological anomaly],Partial pancreatic agenesis,"[Congenital pancreatic agenesis, Partial agenesis of the pancreas]",Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.,"[167755, 615935, 260370]",,,,,Agenesis of the dorsal pancreas,TRUE,FALSE,Active +GARD:4204,Active,Orphanet,ORPHA:93292,Disorder,[Disease],Adenoma of pancreas,[Pancreatic adenoma],"A rare, benign tumor of the pancreas characterized by variable number and size of the cysts lined with glycogen rich epithelial cells. Clinical manifestation may include epigastric or abdominal pain, weight loss, diabetes, jaundice and palpable abdominal mass. Some patients have no symptoms and the tumor is discovered incidentally.",,,,,,Pancreatic adenoma,TRUE,FALSE,Active +GARD:4205,Legacy,GARD,,,,,,,,,,,,Pancreatic beta cell agenesis with neonatal diabetes mellitus,TRUE,FALSE,Retired +GARD:4206,Active,Orphanet,ORPHA:1333,Disorder,[Disease],Familial pancreatic carcinoma,[Familial pancreatic cancer],Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.,"[606856, 613347, 614320, 613348, 260350]",,,,,Familial pancreatic cancer,TRUE,FALSE,Active +GARD:4208,Legacy,GARD,,,,,,,,,,,,Pancreatic lipomatosis duodenal stenosis,TRUE,FALSE,Active +GARD:4210,Active,Orphanet,ORPHA:677,Disorder,[Disease],Pancreatoblastoma,,"A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells is characterized by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.",,,,,,Pancreatoblastoma,TRUE,FALSE,Active +GARD:4213,Active,Orphanet,ORPHA:93276,Subtype of disorder,[Clinical subtype],Polyostotic fibrous dysplasia,,,,,,,,Panostotic fibrous dysplasia,TRUE,FALSE,Active +GARD:4214,Active,Orphanet,ORPHA:2807,Disorder,[Disease],Papilloma of choroid plexus,"[CPP, Choroid plexus papilloma]","A rare benign type of choroid plexus tumor often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.",[260500],,,,,Choroid plexus papilloma,TRUE,FALSE,Active +GARD:4215,Legacy,GARD,,,,,,,,,,,,Parainfluenza virus type 3,TRUE,FALSE,Active +GARD:4218,Legacy,GARD,,,,,,,,,,,,Paraomphalocele,TRUE,FALSE,Active +GARD:4219,Active,Orphanet,ORPHA:100998,Disorder,[Disease],Autosomal dominant spastic paraplegia type 17,"[SPG17, Silver syndrome, Spastic paraplegia-amyotrophy of hands and feet]","A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.",[270685],,,,,Spastic paraplegia 17,TRUE,FALSE,Active +GARD:422,Legacy,GARD,,,,,,,,,,,,Tunglang Savage Bellman syndrome,TRUE,FALSE,Active +GARD:4222,Active,Orphanet,ORPHA:2646,Disorder,[Malformation syndrome],Parastremmatic dwarfism,,"A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.",[168400],,,,,Parastremmatic dwarfism,TRUE,FALSE,Active +GARD:4223,Active,Orphanet,ORPHA:2825,Disorder,[Malformation syndrome],PARC syndrome,[Poikiloderma-alopecia-retrognathism-cleft palate syndrome],"PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.",[600331],,,,,PARC syndrome,TRUE,FALSE,Active +GARD:4224,Active,Orphanet,ORPHA:851,Disorder,[Disease],Paris-Trousseau thrombocytopenia,,"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.","[188025, 617443]",,,,,Paris-Trousseau thrombocytopenia,TRUE,FALSE,Active +GARD:4227,Active,Orphanet,ORPHA:228140,Disorder,[Disease],"Idiopathic ventricular fibrillation, non Brugada type","[Familial paroxysmal ventricular fibrillation, non Brugada type]","A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.","[603829, 612956]",,,,,Paroxysmal ventricular fibrillation,TRUE,FALSE,Active +GARD:4228,Active,Orphanet,ORPHA:2901,Disorder,[Disease],Neuralgic amyotrophy,"[Acute brachial plexus neuritis, Brachial plexus neuritis, Immune brachial plexus neuropathy, Mononeuritis multiplex with brachial predilection, Neuralgic shoulder amyotrophy]","A rare disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.",[162100],,,,,Parsonage Turner syndrome,TRUE,FALSE,Active +GARD:4229,Active,Orphanet,ORPHA:1330,Disorder,[Morphological anomaly],Partial atrioventricular septal defect,"[PAVC, Partial AVSD, Partial atrioventricular canal defect]","A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (''cleft''). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum.",,,,,,Partial atrioventricular canal,TRUE,FALSE,Active +GARD:4230,Legacy,GARD,,,,,,,,,,,,Partial deletion of Y,TRUE,FALSE,Active +GARD:4232,Legacy,GARD,,,,,,,,,,,,Partial lissencephaly,TRUE,FALSE,Retired +GARD:4234,Legacy,GARD,,,,,,,,,,,,Partington Anderson syndrome,TRUE,FALSE,Retired +GARD:4235,Active,Orphanet,ORPHA:94083,Disorder,[Malformation syndrome],Partington syndrome,"[Partington-Mulley syndrome, X-linked intellectual disability-dystonia-dysarthria syndrome]","Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (ARX) gene (Xp22.13). Transmission is X-linked recessive.",[309510],,,,,Partington syndrome,TRUE,FALSE,Active +GARD:4236,Active,Orphanet,ORPHA:295,Disorder,[Malformation syndrome],Fetal parvovirus syndrome,"[Mother-to-child transmission of parvovirus syndrome, Parvovirus antenatal infection]","Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.",,,,,,Parvovirus antenatal infection,TRUE,FALSE,Active +GARD:4238,Active,Orphanet,ORPHA:1252,Disorder,[Malformation syndrome],Blepharonasofacial malformation syndrome,"[Pashayan syndrome, Pashayan-Pruzansky syndrome]","Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.",[110050],,,,,Blepharonasofacial malformation syndrome,TRUE,FALSE,Active +GARD:424,Active,Orphanet,ORPHA:3469,Disorder,[Malformation syndrome],XK aprosencephaly syndrome,"[Garcia-Lurie syndrome, XK syndrome, XK-aprosencephaly]","A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.",[207770],,,,,XK aprosencephaly,TRUE,FALSE,Active +GARD:425,Active,Orphanet,ORPHA:1063,Disorder,[Disease],Tufted angioma,[Nakagawa angioblastoma],A rare vascular tumour that may be either congenital or acquired (appearing before the age of 5 years) with slow angiomatous proliferation.,[607859],,,,,Tufted angioma,TRUE,FALSE,Active +GARD:4253,Legacy,GARD,,,,,,,,,,,,Patel Bixler syndrome,TRUE,FALSE,Retired +GARD:4255,Legacy,GARD,,,,,,,,,,,,Patella hypoplasia mental retardation,TRUE,FALSE,Retired +GARD:4259,Active,Orphanet,ORPHA:2976,Disorder,[Malformation syndrome],"Pseudoleprechaunism syndrome, Patterson type","[Patterson pseudoleprechaunism syndrome, Patterson syndrome]","Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.",[169170],,,,,Patterson pseudoleprechaunism syndrome,TRUE,FALSE,Active +GARD:4260,Active,Orphanet,ORPHA:2439,Disorder,[Malformation syndrome],Patterson-Stevenson-Fontaine syndrome,"[Patterson-Stevenson syndrome, Split foot deformity-mandibulofacial dysostosis syndrome]",Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.,[183700],,,,,Patterson-Stevenson-Fontaine syndrome,TRUE,FALSE,Active +GARD:4261,Active,Orphanet,ORPHA:85410,Disorder,[Disease],Oligoarticular juvenile idiopathic arthritis,"[Oligoarticular JIA, Pauciarticular chronic arthritis]",A rare inflammatory rheumatic disease characterized by juvenile onset arthritis that affects fewer than 5 joints during the first 6 months after disease onset.,,,,,,Pauciarticular chronic arthritis,TRUE,FALSE,Active +GARD:4262,Legacy,GARD,,,,,,,,,,,,Syndactyly type 1 with cataracts and mental retardation,TRUE,FALSE,Retired +GARD:4264,Active,Orphanet,ORPHA:2836,Disorder,[Disease],PEHO syndrome,"[Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy, Progressive encephalopathy-optic atrophy syndrome]","PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.",[260565],,,,,PEHO syndrome,TRUE,FALSE,Active +GARD:4265,Active,Orphanet,ORPHA:702,Disorder,[Disease],Pelizaeus-Merzbacher disease,"[Diffuse familial brain sclerosis, PMD, Pelizaeus-Merzbacher brain sclerosis, Sudanophilic leukodystrophy, Paelizeus-Merzbacher type]","Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms).","[312080, 213900]",,,,,Pelizaeus-Merzbacher disease,TRUE,FALSE,Active +GARD:4266,Active,Orphanet,ORPHA:280293,Subtype of disorder,[Clinical subtype],Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,,,[260600],,,,,"Leukodystrophy, hypomyelinating 3",TRUE,FALSE,Active +GARD:4267,Legacy,GARD,,,,,,,,,,,,Pellagra like syndrome,TRUE,FALSE,Active +GARD:4268,Legacy,GARD,,,,,,,,,,,,Tryptophanuria with dwarfism,TRUE,FALSE,Active +GARD:4269,Active,Orphanet,ORPHA:2840,Disorder,[Malformation syndrome],Pelvic dysplasia-arthrogryposis of lower limbs syndrome,[Ray-Peterson-Scott syndrome],"Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.",[602484],,,,,Pelvic dysplasia arthrogryposis of lower limbs,TRUE,FALSE,Active +GARD:427,Active,Orphanet,ORPHA:2997,Disorder,[Malformation syndrome],Ptosis-vocal cord paralysis syndrome,[Tucker syndrome],"Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.",[193240],,,,,Tucker syndrome,TRUE,FALSE,Active +GARD:4270,Active,Orphanet+OMIM,OMIM:169610,Subtype of disorder,[Disease subtype],"Pemphigus vulgaris, familial",,"Pemphigus vulgaris (PV) is a rare, blistering autoimmune disease that affects the skin and mucous membranes. Patients have circulating antibody to an intercellular cement substance, and deposition in vivo of this antibody is a hallmark of the disease. The antibody appears to be pathogenetic, since newborn infants of mothers with pemphigus may have blisters, and newborn mice injected with the antibody from patients have clinical pemphigus. The disease is reported to have a particularly high incidence among Jews (summary by {2:Ahmed et al., 1990}).",[169610],[704],[Pemphigus vulgaris],[7355],,Familial pemphigus vulgaris,TRUE,FALSE,Retired +GARD:4271,Active,Orphanet,ORPHA:705,Disorder,[Malformation syndrome],Pendred syndrome,"[Goiter-deafness syndrome, Goiter-hearing loss syndrome]",A syndromic genetic deafness clinically variable characterized by bilateral sensorineural hearing loss and euthyroid goiter.,[274600],,,,,Pendred syndrome,TRUE,FALSE,Active +GARD:4272,Active,Orphanet,ORPHA:49,Disorder,[Morphological anomaly],Penile agenesis,"[Aphallia, Penis agenesis]","Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.",,,,,,Penis agenesis,TRUE,FALSE,Active +GARD:4273,Active,Orphanet,ORPHA:2842,Disorder,[Morphological anomaly],Penoscrotal transposition,,"A rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).",,,,,,Penoscrotal transposition,TRUE,FALSE,Active +GARD:4276,Active,Orphanet,ORPHA:363665,Disorder,[Disease],Acroosteolysis-keloid-like lesions-premature aging syndrome,"[Premature aging syndrome, Penttinen type]","A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.",[601812],,,,,Acroosteolysis-keloid-like lesions-premature aging syndrome,TRUE,FALSE,Active +GARD:4278,Active,Orphanet+OMIM,OMIM:261680,Subtype of disorder,[Disease subtype],"Phosphoenolpyruvate carboxykinase deficiency, cytosolic","[pepck deficiency, cytosolic, Pck1 deficiency, cytosolic]","Cytosolic phosphoenolpyruvate carboxykinase deficiency causes a defect in gluconeogenesis that results in a 'biochemical signature' of fasting hypoglycemia with high tricarboxylic acid cycle intermediate excretion, particularly of fumarate. Other biochemical anomalies that may be seen during metabolic crisis include ketonuria, dicarboxylic aciduria, and urea cycle dysfunction ({7:Vieira et al., 2017}).\n\nSee PCKDM ({261650}) for a discussion of mitochondrial PCK (PEPCK2; {614095}) deficiency.",[261680],[2880],[Phosphoenolpyruvate carboxykinase deficiency],[16613],,PEPCK 1 deficiency,TRUE,FALSE,Active +GARD:4279,Active,Orphanet+OMIM,OMIM:261650,Subtype of disorder,[Disease subtype],"Phosphoenolpyruvate carboxykinase deficiency, mitochondrial","[pepck2 deficiency, Pck2 deficiency]",,[261650],[2880],[Phosphoenolpyruvate carboxykinase deficiency],[16613],,PEPCK 2 deficiency,TRUE,FALSE,Active +GARD:428,Active,Orphanet,ORPHA:1521,Disorder,[Malformation syndrome],Craniofrontonasal dysplasia-Poland anomaly syndrome,[Webster-Deming syndrome],"Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly (see this term), cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.",,,,,,Webster Deming syndrome,TRUE,FALSE,Retired +GARD:4280,Legacy,GARD,,,,,,,,,,,,Peptidic growth factors deficiency,TRUE,FALSE,Retired +GARD:4284,Legacy,GARD,,,,,,,,,,,,Pericardium absent mental retardation short stature,TRUE,FALSE,Retired +GARD:429,Active,Orphanet,ORPHA:295000,Disorder,[Malformation syndrome],Constriction rings syndrome,"[Amniotic band sequence, Amniotic band syndrome, Congenital ring constrictions, Constriction band syndrome, Streeter dysplasia]","Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.",[217100],,,,,Amniotic band syndrome,TRUE,FALSE,Active +GARD:4291,Active,Orphanet+OMIM,OMIM:610422,Subtype of disorder,[Disease subtype],Alopecia-intellectual disability syndrome 2,,"For a discussion of genetic heterogeneity of alopecia-intellectual disability syndrome, see APMR1 ({203650}).",[610422],[2850],[Alopecia-intellectual disability syndrome],[612],,Alopecia intellectual disability syndrome 2,TRUE,FALSE,Active +GARD:4299,Active,Orphanet,ORPHA:2776,Disorder,[Malformation syndrome],Autosomal recessive distal osteolysis syndrome,"[Distal osteolysis-short stature-intellectual disability syndrome, Petit-Fryns syndrome]","An early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.",[259610],,,,,Petit-Fryns syndrome,TRUE,FALSE,Retired +GARD:43,Active,Orphanet,ORPHA:99776,Disorder,[Malformation syndrome],Mosaic trisomy 9,"[Mosaic trisomy chromosome 9, Trisomy 9 mosaicism]","Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.",,,,,,Mosaic trisomy 9,TRUE,FALSE,Active +GARD:430,Legacy,GARD,,,,,,,,,,,,Tachycardia hypertension microphthalmia and hyperglycinuria,TRUE,FALSE,Retired +GARD:4302,Active,Orphanet,ORPHA:2496,Disorder,[Malformation syndrome],Mesomelia-synostoses syndrome,"[8q13 microdeletion syndrome, Del(8)q(13), Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type, Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type, Monosomy 8q13, Verloes-David syndrome]","A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies.",[600383],,,,,Mesomelia-synostoses syndrome,TRUE,FALSE,Active +GARD:4303,Active,Orphanet,ORPHA:3224,Disorder,[Malformation syndrome],Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,"[Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome, Pfeiffer-Kapferer syndrome]","Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).",,,,,,Pfeiffer Kapferer syndrome,TRUE,FALSE,Active +GARD:4304,Active,Orphanet,ORPHA:2921,Disorder,[Malformation syndrome],Preaxial polydactyly-colobomata-intellectual disability syndrome,[Pfeiffer-Mayer syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.",,,,,,Pfeiffer Mayer syndrome,TRUE,FALSE,Active +GARD:4305,Active,Orphanet,ORPHA:2871,Disorder,[Malformation syndrome],Pfeiffer-Palm-Teller syndrome,,"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.",[261560],,,,,Pfeiffer Palm Teller syndrome,TRUE,FALSE,Active +GARD:4306,Legacy,GARD,,,,,,,,,,,,Pfeiffer Rockelein syndrome,TRUE,FALSE,Active +GARD:4308,Legacy,GARD,,,,,,,,,,,,Pfeiffer Tietze Welte syndrome,TRUE,FALSE,Active +GARD:431,Active,Orphanet,ORPHA:83463,Disorder,[Morphological anomaly],Microtia,,"A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.","[128800, 600674]",,,,,Microtia-Anotia,TRUE,FALSE,Active +GARD:4311,Active,Orphanet,ORPHA:2874,Disorder,[Malformation syndrome],Phakomatosis pigmentokeratotica,,"Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.",,,,,,Phacomatosis pigmentokeratotica,TRUE,FALSE,Active +GARD:4312,Active,Orphanet,ORPHA:2875,Disorder,[Disease],Phakomatosis pigmentovascularis,,"A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics.",,,,,,Phacomatosis pigmentovascularis,TRUE,FALSE,Active +GARD:4315,Active,Orphanet,ORPHA:1919,Disorder,[Malformation syndrome],Phenobarbital embryopathy,,"A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.",,,,,,Phenobarbital antenatal exposure,TRUE,FALSE,Active +GARD:4319,Active,Orphanet,ORPHA:226,Subtype of disorder,[Clinical subtype],Dihydropteridine reductase deficiency,"[Hyperphenylalaninemia due to dihydropteridine reductase deficiency, PKU type 2, Phenylketonuria type 2]","Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.",[261630],,,,,Dihydropteridine reductase deficiency,TRUE,FALSE,Active +GARD:432,Legacy,GARD,,,,,,,,,,,,Arbovirosis,TRUE,FALSE,Active +GARD:4321,Legacy,GARD,,,,,,,,,,,,Pheochromocytoma-islet cell tumor syndrome,TRUE,FALSE,Active +GARD:4323,Active,Orphanet,ORPHA:2878,Disorder,[Malformation syndrome],Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome,"[Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome, Stoll-Lévy-Francfort syndrome]","Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.",[171480],,,,,Phocomelia ectrodactyly deafness sinus arrhythmia,TRUE,FALSE,Active +GARD:4329,Active,Orphanet,ORPHA:319646,Disorder,[Disease],PGM1-CDG,"[CDG syndrome type It, CDG-It, CDG1T, Congenital disorder of glycosylation type 1t, Congenital disorder of glycosylation type It, PGM1-related congenital disorder of glycosylation, Phosphoglucomutase-1 deficiency]","A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty.",[614921],,,,,PGM1-CDG,TRUE,FALSE,Active +GARD:433,Active,Orphanet,ORPHA:320,Disorder,[Disease],Apparent mineralocorticoid excess,"[11-beta-hydroxysteroid dehydrogenase deficiency type 2, Ulick syndrome]","A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.",[218030],,,,,Apparent mineralocorticoid excess,TRUE,FALSE,Active +GARD:4330,Legacy,GARD,,,,,,,,,,,,Phosphoglucomutase deficiency type 2,TRUE,FALSE,Retired +GARD:4331,Active,Orphanet,ORPHA:443811,Disorder,[Disease],PGM3-CDG,"[CID due to PGM3 deficiency, Combined immunodeficiency due to PGM3 deficiency, PGM3-related congenital disorder of glycosylation]","PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.",[615816],,,,,PGM3-CDG,TRUE,FALSE,Active +GARD:4332,Legacy,GARD,,,,,,,,,,,,Phosphoglucomutase deficiency type 4,TRUE,FALSE,Retired +GARD:4336,Legacy,GARD,,,,,,,,,,,,Phosphomannoisomerase deficiency,TRUE,FALSE,Active +GARD:4337,Active,Orphanet,ORPHA:3222,Disorder,[Disease],Phosphoribosylpyrophosphate synthetase superactivity,"[PRPP synthetase superactivity, PRPS1 superactivity]","A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.",[300661],,,,,Phosphoribosylpyrophosphate synthetase superactivity,TRUE,FALSE,Active +GARD:434,Active,Orphanet,ORPHA:2182,Subtype of disorder,[Clinical subtype],Hydrocephalus with stenosis of the aqueduct of Sylvius,"[Bickers-Adams syndrome, HSAS, X-linked HSAS, X-linked acqueductal stenosis, X-linked hydrocephalus, X-linked hydrocephalus with stenosis of aqueduct of Sylvius]","A congenital, X-linked, clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis.",[307000],,,,,Hydrocephalus due to congenital stenosis of aqueduct of sylvius,TRUE,FALSE,Active +GARD:4340,Legacy,GARD,,,,,,,,,,,,PIBIDS syndrome,TRUE,FALSE,Retired +GARD:4341,Legacy,GARD,,,,,,,,,,,,Picardi-Lassueur-Little syndrome,TRUE,FALSE,Retired +GARD:4344,Active,Orphanet,ORPHA:2884,Disorder,[Disease],Piebaldism,,"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.",[172800],,,,,Piebaldism,TRUE,FALSE,Active +GARD:4345,Legacy,GARD,,,,,,,,,,,,Piepkorn Karp Hickok syndrome,TRUE,FALSE,Active +GARD:4346,Active,Orphanet,ORPHA:99,Group of disorders,[Category],Autosomal dominant cerebellar ataxia,"[ADCA, Autosomal dominant spinocerebellar ataxia]","A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.",,,,,,Autosomal dominant cerebellar ataxia,TRUE,FALSE,Active +GARD:4347,Active,Orphanet,ORPHA:718,Disorder,[Malformation syndrome],Isolated Pierre Robin syndrome,[Isolated Pierre Robin sequence],"A rare, congenital head and neck malformation characterized by the association of retrognathia and glossoptosis, with or without cleft palate, and respiratory obstruction.",[261800],,,,,Pierre Robin sequence,TRUE,FALSE,Active +GARD:435,Active,Orphanet,ORPHA:1995,Disorder,[Malformation syndrome],Cleft lip-retinopathy syndrome,"[Ausems-Wittebol Post-Hennekam syndrome, Cleft lip-cone rod dystrophy syndrome, Cleft lip-progressive retinopathy syndrome]",An exceedingly rare association characterized by cleft lip and progressive retinopathy.,,,,,,Ausems Wittebol-Post Hennekam syndrome,TRUE,FALSE,Active +GARD:4351,Legacy,GARD,,,,,,,,,,,,Weissenbacher-Zweymuller syndrome,TRUE,FALSE,Active +GARD:4354,Legacy,GARD,,,,,,,,,,,,Pierre Robin syndrome skeletal dysplasia polydactyly,TRUE,FALSE,Active +GARD:4356,Legacy,GARD,,,,,,,,,,,,Pigment-dispersion syndrome,TRUE,FALSE,Active +GARD:4357,Active,Orphanet,ORPHA:67042,Disorder,[Disease],Late-onset retinal degeneration,"[Autosomal dominant late-onset retinal degeneration, LORD]","Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.",[605670],,,,,Late-onset retinal degeneration,TRUE,FALSE,Active +GARD:4358,Active,Orphanet,ORPHA:169095,Disorder,[Disease],Severe combined immunodeficiency due to FOXN1 deficiency,"[Alymphoid cystic thymic dysgenesis, Nude/SCID, Nude/severe combined immunodeficiency, SCID due to FOXN1 deficiency, Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome, Winged helix deficiency]","A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.","[601705, 618806]",,,,,"T-cell immunodeficiency, congenital alopecia and nail dystrophy",TRUE,FALSE,Active +GARD:4359,Active,Orphanet,ORPHA:169,Disorder,[Disease],Ringed hair disease,[Pili annulati],"A rare isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or, very rarely, beard, axillary, or pubic hair. Hair is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.",[180600],,,,,Pili annulati,TRUE,FALSE,Active +GARD:436,Active,Orphanet,ORPHA:829,Disorder,[Disease],Adult-onset Still disease,"[AOSD, Wissler-Fanconi syndrome]","A rare inflammatory multisystem disorder characterized clinically by four cardinal signs: fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.",,,,,,Adult-onset Still's disease,TRUE,FALSE,Active +GARD:4360,Legacy,GARD,,,,,,,,,,,,Pili multigemini,FALSE,FALSE,Retired +GARD:4361,Active,Orphanet,ORPHA:2889,Disorder,[Disease],Pili torti,[Twisted hair],Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).,[261900],,,,,Pili torti,TRUE,FALSE,Active +GARD:4362,Active,Orphanet,ORPHA:2891,Disorder,[Malformation syndrome],Pili torti-developmental delay-neurological abnormalities syndrome,,"Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.",[261990],,,,,Pili torti developmental delay neurological abnormalities,TRUE,FALSE,Active +GARD:4364,Active,Orphanet,ORPHA:2890,Disorder,[Malformation syndrome],Pili torti-onychodysplasia syndrome,,"A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.",,,,,,Pili torti onychodysplasia,TRUE,FALSE,Active +GARD:4365,Active,Orphanet,ORPHA:2741,Disorder,[Malformation syndrome],Ophthalmomandibulomelic dysplasia,"[OMM syndrome, Pillay syndrome]","Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.",[164900],,,,,Pillay syndrome,TRUE,FALSE,Active +GARD:4366,Legacy,GARD,,,,,,,,,,,,Pilo dento ungular dysplasia microcephaly,TRUE,FALSE,Retired +GARD:4368,Legacy,GARD,,,,,,,,,,,,Pilotto syndrome,TRUE,FALSE,Active +GARD:4369,Active,Orphanet,ORPHA:3353,Disorder,[Malformation syndrome],Trichodermodysplasia-dental alterations syndrome,[Pinheiro-Freire Maia-Miranda syndrome],"Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.",,,,,,Pinheiro Freire-Maia Miranda syndrome,TRUE,FALSE,Active +GARD:4370,Legacy,GARD,,,,,,,,,,,,Microphthalmia mental deficiency,TRUE,FALSE,Retired +GARD:4371,Legacy,GARD,,,,,,,,,,,,Refsum disease with increased pipecolic acidemia,TRUE,FALSE,Active +GARD:4372,Active,Orphanet,ORPHA:2896,Disorder,[Malformation syndrome],Pitt-Hopkins syndrome,,"A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing.",[610954],,,,,Pitt-Hopkins syndrome,TRUE,FALSE,Active +GARD:4374,Legacy,GARD,,,,,,,,,,,,Pitt syndrome,TRUE,FALSE,Retired +GARD:4375,Active,Orphanet,ORPHA:1078,Disorder,[Malformation syndrome],Thumb stiffness-brachydactyly-intellectual disability syndrome,[Piussan-Lenaerts-Mathieu syndrome],"A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.",[188201],,,,,Piussan Lenaerts Mathieu syndrome,TRUE,FALSE,Active +GARD:4377,Legacy,GARD,,,,,,,,,,,,Plagiocephaly and X-linked mental retardation,TRUE,FALSE,Retired +GARD:4379,Legacy,GARD,,,,,,,,,,,,Plasmalogens synthesis deficiency isolated,TRUE,FALSE,Retired +GARD:438,Active,Orphanet,ORPHA:62,Disorder,[Disease],Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3,"[Alpha-sarcoglycan-related LGMD R3, Alpha-sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2D, LGMD due to alpha-sarcoglycan deficiency, LGMD type 2D, LGMD2D, Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency, Limb-girdle muscular dystrophy type 2D]","A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.",[608099],,,,,"Limb-girdle muscular dystrophy, type 2D",TRUE,FALSE,Active +GARD:4380,Active,Orphanet,ORPHA:722,Disorder,[Disease],Hypoplasminogenemia,[Plasminogen deficiency type 1],A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.,[217090],,,,,Type 1 plasminogen deficiency,TRUE,FALSE,Active +GARD:4381,Active,Orphanet,ORPHA:465,Disorder,[Disease],Congenital plasminogen activator inhibitor type 1 deficiency,[Congenital PAI-1 deficiency],A rare hemorrhagic disorder due to a constitutional haemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.,[613329],,,,,Plasminogen activator inhibitor type 1 deficiency,TRUE,FALSE,Active +GARD:4382,Active,Orphanet,ORPHA:85166,Disorder,[Malformation syndrome],"Platyspondylic dysplasia, Torrance type","[PLSD-T, Platyspondylic dysplasia, Torrance-Luton type, Platyspondylic lethal skeletal dysplasia, Torrance type]","Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.",[151210],,,,,Platyspondylic lethal skeletal dysplasia Torrance type,TRUE,FALSE,Active +GARD:4386,Active,Orphanet,ORPHA:723,Disorder,[Disease],Pneumocystosis,,"Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.",,,,,,Pneumocystosis,TRUE,FALSE,Active +GARD:4387,Legacy,GARD,,,,,,,,,,,,Podder-Tolmie syndrome,TRUE,FALSE,Active +GARD:439,Legacy,GARD,,,,,,,,,,,,Abdominal cystic lymphangioma,TRUE,FALSE,Active +GARD:4391,Active,Orphanet,ORPHA:2908,Disorder,[Disease],Kindler epidermolysis bullosa,"[Congenital bullous poikiloderma, Kindler syndrome, Poikiloderma of Kindler]",A rare inherited epidermolysis bullosa (EB) characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.,,,,,,Kindler syndrome,TRUE,FALSE,Active +GARD:4392,Active,Orphanet,ORPHA:2909,Disorder,[Disease],Rothmund-Thomson syndrome,"[Poikiloderma of Rothmund-Thomson, RTS]","Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.",[268400],,,,,Rothmund-Thomson syndrome,TRUE,FALSE,Active +GARD:4395,Legacy,GARD,,,,,,,,,,,,Pointer syndrome,TRUE,FALSE,Active +GARD:44,Active,Orphanet,ORPHA:2342,Disorder,[Disease],Haim-Munk syndrome,"[Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome, Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome, Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome]","Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.",[245010],,,,,Haim-Munk syndrome,TRUE,FALSE,Active +GARD:4404,Legacy,GARD,,,,,,,,,,,,"Polycystic kidney disease, type 1",FALSE,FALSE,Retired +GARD:4405,Legacy,GARD,,,,,,,,,,,,"Polycystic kidney disease, type 2",FALSE,FALSE,Retired +GARD:4406,Legacy,GARD,,,,,,,,,,,,"Polycystic kidney disease, type 3",FALSE,FALSE,Retired +GARD:4410,Active,Orphanet,ORPHA:2913,Group of disorders,[Category],Non-syndromic polydactyly,,,[603596],,,,,Polydactyly,TRUE,FALSE,Active +GARD:4412,Active,Orphanet,ORPHA:2754,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 6,"[Joubert syndrome with oral-facial-digital syndrome, Joubert syndrome with orofaciodigital defect, OFD6, Oral-facial-digital syndrome type 6, Polydactyly-cleft lip/palate-psychomotor retardation syndrome, Váradi syndrome, Váradi-Papp syndrome]","Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.","[615665, 277170, 300804, 618763, 614815, 617127]",,,,,Orofaciodigital syndrome 6,TRUE,FALSE,Active +GARD:4413,Active,Orphanet,ORPHA:2917,Disorder,[Malformation syndrome],Polydactyly-myopia syndrome,[Czeizel-Brooser syndrome],Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.,[174310],,,,,Polydactyly myopia syndrome,TRUE,FALSE,Active +GARD:4414,Active,Orphanet+OMIM,OMIM:174200,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a1","[Postaxial polydactyly, type a, polydactyly, postaxial]","Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by {17:Umm-e-Kalsoom et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Postaxial Polydactyly\n\nOther forms of postaxial polydactyly type A include PAPA2 ({602085}) on chromosome 13q21; PAPA3 ({607324}) on chromosome 19p13; PAPA4 ({608562}) on chromosome 7q22; PAPA5 ({263450}) on chromosome 13q13; PAPA6 ({615226}), caused by mutation in the ZNF141 gene ({194648}) on chromosome 4p16; PAPA7 ({617642}), caused by mutation in the IQCE gene ({617631}) on chromosome 7p22; PAPA8 ({618123}), caused by mutation in the GLI1 gene ({165220}) on chromosome 12q13; PAPA9 ({618219}), caused by mutation in the FAM98A gene ({617273}) on chromosome 8q22; and PAPA10 ({618498}), caused by mutation in the KIAA0825 gene ({617266}) on chromosome 5q15.",[174200],[93334],[Postaxial polydactyly type A],[16817],,Polydactyly postaxial,TRUE,FALSE,Retired +GARD:4415,Legacy,GARD,,,,,,,,,,,,Polydactyly postaxial dental and vertebral,TRUE,FALSE,Active +GARD:4417,Active,Orphanet,ORPHA:93339,Disorder,[Morphological anomaly],Polydactyly of a biphalangeal thumb,"[PPD1, Preaxial polydactyly type 1]","Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.",[174400],,,,,Preaxial polydactyly type 1,TRUE,FALSE,Active +GARD:4418,Legacy,GARD,,,,,,,,,,,,Polydactyly syndrome middle ray duplication,TRUE,FALSE,Active +GARD:4420,Legacy,GARD,,,,,,,,,,,,Polymicrogyria turricephaly hypogenitalism,TRUE,FALSE,Retired +GARD:4421,Active,Orphanet,ORPHA:3286,Disorder,[Disease],Catecholaminergic polymorphic ventricular tachycardia,"[Bidirectional ventricular tachycardia induced by catecholamine, CPVT, Malignant paroxysmal ventricular tachycardia, Polymorphic ventricular tachycardia induced by catecholamines]","A rare, severe genetic arrhythmogenic disorder of the structurally normal heart characterized by catecholamine-induced ventricular tachycardia (VT) manifesting as syncope and sudden death in young individuals.","[615441, 614021, 611938, 614916, 604772]",,,,,Catecholaminergic polymorphic ventricular tachycardia,TRUE,FALSE,Active +GARD:4424,Active,Orphanet,ORPHA:2928,Disorder,[Malformation syndrome],Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,[Lundberg syndrome],"Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.",,,,,,Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,TRUE,FALSE,Active +GARD:4427,Active,Orphanet,ORPHA:2930,Disorder,[Disease],Cronkhite-Canada syndrome,"[Gastrointestinal polyposis-ectodermal changes syndrome, Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome]","Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.",[175500],,,,,Cronkhite-Canada disease,TRUE,FALSE,Active +GARD:4428,Active,Orphanet,ORPHA:2934,Disorder,[Malformation syndrome],Polysyndactyly-cardiac malformation syndrome,[Bonneau syndrome],"A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.",[263630],,,,,Polysyndactyly cardiac malformation,TRUE,FALSE,Active +GARD:4432,Legacy,GARD,,,,,,,,,,,,Polysyndactyly trigonocephaly agenesis of corpus callosum,TRUE,FALSE,Retired +GARD:4434,Active,Orphanet,ORPHA:93405,Disorder,[Morphological anomaly],Syndactyly type 4,"[Polysyndactyly, Haas type]","A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected.",[186200],,,,,Syndactyly type 4,TRUE,FALSE,Active +GARD:4435,Legacy,GARD,,,,,,,,,,,,Poncet-Spiegler's cylindroma,TRUE,FALSE,Active +GARD:4436,Active,Orphanet,ORPHA:1234,Disorder,[Malformation syndrome],Bartsocas-Papas syndrome,"[Autosomal recessive popliteal pterygium syndrome, Lethal popliteal pterygium syndrome]","Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.","[263650, 619339]",,,,,"Popliteal pterygium syndrome, Bartsocas-Papas type",TRUE,FALSE,Active +GARD:4437,Active,Orphanet,ORPHA:2941,Disorder,[Malformation syndrome],Porencephaly-cerebellar hypoplasia-internal malformations syndrome,[Bonnemann-Meinecke syndrome],"Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.",[601322],,,,,Porencephaly cerebellar hypoplasia internal malformations,TRUE,FALSE,Active +GARD:4438,Active,Orphanet,ORPHA:735,Disorder,[Disease],Porokeratosis of Mibelli,,"A rare skin disease that is characterized by the presence of brownish single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.","[175900, 175800]",,,,,Porokeratosis of Mibelli,TRUE,FALSE,Active +GARD:4439,Active,Orphanet,ORPHA:79502,Disorder,[Disease],Punctate palmoplantar keratoderma type 2,"[PPKP2, PPPP, Punctate palmoplantar hyperkeratosis type 2]","Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.",[175860],,,,,Punctate palmoplantar keratoderma type 2,TRUE,FALSE,Active +GARD:4445,Legacy,GARD,,,,,,,,,,,,Aminolevulinate dehydratase deficiency porphyria,TRUE,FALSE,Active +GARD:4446,Active,Orphanet,ORPHA:79277,Disorder,[Disease],Congenital erythropoietic porphyria,"[CEP, Günther disease]","Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.",[263700],,,,,Congenital erythropoietic porphyria,TRUE,FALSE,Active +GARD:4449,Legacy,GARD,,,,,,,,,,,,Portal hypertension due to infrahepatic block,TRUE,FALSE,Retired +GARD:4453,Legacy,GARD,,,,,,,,,,,,Positive rheumatoid factor polyarthritis,TRUE,FALSE,Active +GARD:4454,Active,Orphanet,ORPHA:2942,Disorder,[Disease],Postpoliomyelitis syndrome,"[Postpolio sequelae, Postpolio syndrome, Postpoliomyelitic syndrome, Postpoliomyelitis sequelae]","Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis (see this term), 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.",,,,,,Post Polio syndrome,TRUE,FALSE,Active +GARD:4456,Legacy,GARD,,,,,,,,,,,,Postaxial polydactyly mental retardation,TRUE,FALSE,Retired +GARD:4457,Active,Orphanet,ORPHA:280892,Group of disorders,[Category],Posterior uveitis,[Choroiditis],,,,,,,Posterior uveitis,TRUE,FALSE,Active +GARD:4458,Legacy,GARD,,,,,,,,,,,,Posterior valve urethra,TRUE,FALSE,Retired +GARD:4459,Active,Orphanet,ORPHA:612,Group of disorders,[Clinical group],Potassium-aggravated myotonia,"[K+-aggravated myotonia, K-aggravated myotonia, PAM]","A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.",[608390],,,,,Potassium aggravated myotonia,TRUE,FALSE,Active +GARD:4460,Legacy,GARD,,,,,,,,,,,,Potter syndrome type 1,TRUE,FALSE,Retired +GARD:4461,Legacy,GARD,,,,,,,,,,,,Potter syndrome type 3,TRUE,FALSE,Retired +GARD:4462,Legacy,GARD,,,,,,,,,,,,Potter sequence,TRUE,FALSE,Active +GARD:4463,Legacy,GARD,,,,,,,,,,,,Potter syndrome type 2,TRUE,FALSE,Retired +GARD:4464,Legacy,GARD,,,,,,,,,,,,Powell Buist Stenzel syndrome,TRUE,FALSE,Retired +GARD:4465,Active,Orphanet,ORPHA:2876,Disorder,[Malformation syndrome],PHAVER syndrome,[Powell-Chandra-Saal syndrome],"A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.",[261575],,,,,PHAVER syndrome,TRUE,FALSE,Active +GARD:4466,Legacy,GARD,,,,,,,,,,,,Venencie Powell Gordon Winkelmann syndrome,TRUE,FALSE,Retired +GARD:4468,Legacy,GARD,,,,,,,,,,,,Prata Libéral Gonçalves syndrome,TRUE,FALSE,Retired +GARD:4470,Active,Orphanet,ORPHA:2957,Disorder,[Malformation syndrome],Guttmacher syndrome,[Preaxial deficiency-postaxial polydactyly-hypospadias syndrome],"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.",[176305],,,,,"Preaxial deficiency, postaxial polydactyly and hypospadias",TRUE,FALSE,Active +GARD:4472,Legacy,GARD,,,,,,,,,,,,Precocious epileptic encephalopathy,TRUE,FALSE,Retired +GARD:4473,Legacy,GARD,,,,,,,,,,,,Precocious myoclonic encephalopathy,TRUE,FALSE,Retired +GARD:4474,Legacy,GARD,,,,,,,,,,,,"Precocious puberty, gonadotropin-dependent",TRUE,FALSE,Active +GARD:4475,Active,Orphanet,ORPHA:3000,Disorder,[Disease],Familial male-limited precocious puberty,"[FMPP, Familial gonadotropin-independent male-limited sexual precocity, Male-limited precocious puberty, Testotoxicosis]","Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.",[176410],,,,,Testotoxicosis,TRUE,FALSE,Active +GARD:4476,Legacy,GARD,,,,,,,,,,,,Preeyasombat Varavithya syndrome,TRUE,FALSE,Retired +GARD:4477,Active,Orphanet,ORPHA:749,Disorder,[Disease],Congenital prekallikrein deficiency,,"A rare genetic coagulation disorder characterized by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported.",[612423],,,,,"Prekallikrein deficiency, congenital",TRUE,FALSE,Active +GARD:4478,Legacy,GARD,,,,,,,,,,,,Premature aging Okamoto type,TRUE,FALSE,Active +GARD:4479,Legacy,GARD,,,,,,,,,,,,"Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, an",TRUE,FALSE,Retired +GARD:448,Active,Orphanet,ORPHA:1493,Disorder,[Malformation syndrome],Vici syndrome,"[Corpus callosum agenesis-cataract-immunodeficiency syndrome, Dionisi-Vici-Sabetta-Gambarara syndrome]","Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.",[242840],,,,,Vici syndrome,TRUE,FALSE,Active +GARD:4480,Legacy,GARD,,,,,,,,,,,,FMR1-related primary ovarian insufficiency,TRUE,FALSE,Active +GARD:4482,Active,Orphanet,ORPHA:2958,Disorder,[Malformation syndrome],X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,[Prieto-Badia-Mulas syndrome],"An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.",[309610],,,,,X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,TRUE,FALSE,Active +GARD:4483,Active,Orphanet,ORPHA:79477,Subtype of disorder,[Clinical subtype],Griscelli syndrome type 2,"[Griscelli-Pruniéras syndrome type 2, Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome]","A rare subtype of Griscelli syndrome characterized by pigmentary dilution in skin and hair with irregular clumps of pigment in hair shafts resulting in silvery hair, in association with increased susceptibility to recurrent infections and immunological abnormalities, in particular impairment of T-cell and natural killer cytotoxic activity eventually leading to hemophagocytic lymphohistiocytosis. Patients may present neurological manifestations related to infiltration of the central nervous system in the context of the hemophagocytic syndrome. The disease is mostly fatal in the first decade of life.",[607624],,,,,Griscelli syndrome type 2,TRUE,FALSE,Active +GARD:4484,Active,Orphanet,ORPHA:244,Disorder,[Disease],Primary ciliary dyskinesia,[PCD],"A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).","[300991, 615500, 618063, 618695, 608647, 242680, 244400, 613193, 617577, 617091, 614935, 616481, 615067, 617092, 615444, 615872, 612649, 612650, 215518, 612274, 608644, 215520, 610852, 614017, 242670, 608646, 614679, 614874, 611884, 616726, 618781, 613808, 612444, 616037, 612518, 618449, 615451, 606763, 615481, 615482, 615504, 615505, 618801, 613807, 615294]",,,,,Primary ciliary dyskinesia,TRUE,FALSE,Active +GARD:4485,Active,Orphanet,ORPHA:247604,Disorder,[Disease],Juvenile primary lateral sclerosis,"[JPLS, Juvenile PLS]","A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.",[606353],,,,,Juvenile primary lateral sclerosis,TRUE,FALSE,Active +GARD:4486,Legacy,GARD,,,,,,,,,,,,Primary malignant lymphoma,TRUE,FALSE,Retired +GARD:4487,Legacy,GARD,,,,,,,,,,,,Primary tubular proximal acidosis,TRUE,FALSE,Active +GARD:4488,Active,Orphanet,ORPHA:3042,Disorder,[Malformation syndrome],Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,[Primrose syndrome],"Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.",[259050],,,,,Primrose syndrome,TRUE,FALSE,Active +GARD:4491,Legacy,GARD,,,,,,,,,,,,"Proconvertin deficiency, congenital",TRUE,FALSE,Retired +GARD:4494,Active,Orphanet,ORPHA:2959,Disorder,[Malformation syndrome],Progeria-short stature-pigmented nevi syndrome,[Mulvihill-Smith syndrome],"Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.",[176690],,,,,Progeroid short stature with pigmented nevi,TRUE,FALSE,Active +GARD:4495,Legacy,GARD,,,,,,,,,,,,Progeria variant syndrome Ruvalcaba type,TRUE,FALSE,Retired +GARD:4497,Active,Orphanet,ORPHA:2963,Disorder,[Malformation syndrome],"Progeroid syndrome, Petty type","[Fontaine progeroid syndrome, Petty syndrome, Petty-Laxova-Wiedemann syndrome]","Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.",[612289],,,,,Progeroid syndrome Petty type,TRUE,FALSE,Active +GARD:4498,Legacy,GARD,,,,,,,,,,,,"Progeroid syndrome, Penttinen type",TRUE,FALSE,Retired +GARD:45,Active,Orphanet,ORPHA:291,Disorder,[Disease],Congenital varicella syndrome,"[Antenatal varicella virus infection, Mother-to-child transmission of varicella syndrome]","A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.",,,,,,Congenital varicella syndrome,TRUE,FALSE,Active +GARD:4500,Active,Orphanet,ORPHA:39,Disorder,[Disease],Acromelanosis,,"A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life.",,,,,,Acromelanosis,TRUE,FALSE,Active +GARD:4501,Legacy,GARD,,,,,,,,,,,,Progressive black carbon hyperpigmentation of infancy,TRUE,FALSE,Retired +GARD:4503,Active,Orphanet,ORPHA:520820,Group of disorders,[Category],Progressive external ophthalmoplegia,,,,,,,,Chronic progressive external ophthalmoplegia,TRUE,FALSE,Active +GARD:4504,Active,Orphanet+OMIM,OMIM:304400,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 2","[Deafness, conductive, with stapes fixation, deafness 3, conductive, with stapes fixation, nance deafness, deafness, mixed, with perilymphatic gusher, sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear, perilymphatic gusher-deafness syndrome]","DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by {11:de Kok et al., 1995} and {29:Song et al., 2010}).\n\nSee also choroideremia, deafness, and mental retardation ({303110}), a contiguous gene deletion syndrome involving the POU3F4 and CHM ({300390}) genes on Xq21; isolated choroideremia ({303100}) is caused by mutation in the CHM gene.",[304400],[90641],[Mitochondrial non-syndromic sensorineural deafness],[16792],,"Deafness, X-linked 2",TRUE,FALSE,Active +GARD:4505,Legacy,GARD,,,,,,,,,,,,"Progressive kinking of the hair, acquired",TRUE,FALSE,Active +GARD:4507,Active,Orphanet,ORPHA:99750,Subtype of disorder,[Clinical subtype],Atypical progressive supranuclear palsy syndrome,[Atypical PSP syndrome],"A form or progressive supranuclear palsy syndrome (PSP), a rare late-onset neurodegenerative disease, characterized by an underlying PSP-tau pathology, that does not conform to the classic presentation of PSP. The clinical phenotype is variable and comprises PSP with predominant Parkinsonism (PSP-P), PSP with progressive gait freezing (PSP-PGF), PSP with predominant corticobasal syndrome (PSP-CBS), PSP with predominant speech/language disorder (PSP-SL), PSP with predominant frontal presentation (PSP-F), PSP with predominant ocular motor dysfunction (PSP-OM), and PSP with predominant postural instability (PSP-PI).",[260540],,,,,Progressive supranuclear palsy atypical,TRUE,FALSE,Active +GARD:4508,Active,Orphanet,ORPHA:2965,Disorder,[Disease],Prolactinoma,"[Lactotroph adenoma, PRL-secreting pituitary adenoma, PRLoma, Pituitary lactotrophic adenoma, Prolactin-secreting pituitary adenoma]","A rare, usually benign, neoplasm of the anterior pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.",,,,,,Prolactinoma,TRUE,FALSE,Active +GARD:4509,Active,Orphanet,ORPHA:492,Disorder,[Disease],Proliferating trichilemmal cyst,,"A rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.",,,,,,Proliferating trichilemmal cyst,TRUE,FALSE,Active +GARD:4513,Active,Orphanet,ORPHA:2966,Disorder,[Disease],Properdin deficiency,,"Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.",[312060],,,,,Properdin deficiency,TRUE,FALSE,Active +GARD:4518,Active,Orphanet,ORPHA:1126,Disorder,[Malformation syndrome],Aprosencephaly cerebellar dysgenesis,,"A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.",[601374],,,,,Prosencephaly cerebellar dysgenesis,TRUE,FALSE,Retired +GARD:4520,Active,Orphanet,ORPHA:1331,Disorder,[Disease],Familial prostate cancer,,"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.","[610997, 603688, 609299, 611928, 611100, 601518, 602759, 611958, 300704, 608656, 614731, 611959, 609558, 608658, 610321, 300147, 611868, 611955, 176807]",,,,,Familial prostate cancer,TRUE,FALSE,Active +GARD:4521,Legacy,GARD,,,,,,,,,,,,Protein C deficiency,FALSE,FALSE,Active +GARD:4522,Active,Orphanet,ORPHA:2967,Disorder,[Disease],Transcobalamin I deficiency,"[Haptocorrin deficiency, TCI deficiency, Transcobalamin-1 deficiency]","A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.",[193090],,,,,Protein R deficiency,TRUE,FALSE,Retired +GARD:4524,Legacy,GARD,,,,,,,,,,,,Protein S deficiency,TRUE,FALSE,Active +GARD:4525,Legacy,GARD,,,,,,,,,,,,Proteus like syndrome mental retardation eye defect,TRUE,FALSE,Retired +GARD:4527,Active,Orphanet,ORPHA:79278,Disorder,[Disease],Autosomal erythropoietic protoporphyria,[EPP],"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.",[177000],,,,,Autosomal erythropoietic protoporphyria,TRUE,FALSE,Active +GARD:4528,Active,Orphanet,ORPHA:2508,Disorder,[Malformation syndrome],Corpus callosum agenesis-abnormal genitalia syndrome,"[ACC-abnormal genitalia syndrome, Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome, Proud syndrome, Proud-Levine-Carpenter syndrome]","Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.",[300004],,,,,Proud syndrome,TRUE,FALSE,Active +GARD:453,Active,Orphanet,ORPHA:90301,Disorder,[Disease],Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,,"This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.",[200170],,,,,Acanthosis nigricans muscle cramps acral enlargement,TRUE,FALSE,Active +GARD:4531,Active,Orphanet,ORPHA:70,Disorder,[Disease],Proximal spinal muscular atrophy,[SMA],Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.,"[253400, 253550, 271150, 253300]",,,,,Proximal spinal muscular atrophy,TRUE,FALSE,Active +GARD:4532,Legacy,GARD,,,,,,,,,,,,"Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA",TRUE,FALSE,Active +GARD:4536,Active,Orphanet,ORPHA:129,Disorder,[Disease],Pseudopelade of Brocq,,"Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.",,,,,,Pseudopelade of Brocq,TRUE,FALSE,Active +GARD:4538,Legacy,GARD,,,,,,,,,,,,Pseudo-Turner syndrome,TRUE,FALSE,Active +GARD:4539,Active,Orphanet,ORPHA:300,Disorder,[Disease],Bifunctional enzyme deficiency,,"A rare peroxisomal beta-oxidation disorder characterized by deficiency of peroxisomal D-bifunctional protein, type 1 being caused by deficiency of both dehydrogenase and hydratase activities of the enzyme, and types 2 and 3 by hydratase or dehydrogenase deficiency alone, while type 4 is due to compound heterozygous mutations affecting both units and represents a clinically milder phenotype. Types 1-3 are typically fatal in infancy. Patients present with early onset of generalized hypotonia, seizures, severe global developmental delay, craniofacial dysmorphism (large fontanel, high forehead, hypertelorism, epicanthal folds) and elevated plasma very long chain fatty acids. Variable features include hepatomegaly, polymicrogyria, and cerebral white matter abnormalities, among others.",[261515],,,,,D-bifunctional protein deficiency,TRUE,FALSE,Active +GARD:454,Active,Orphanet,ORPHA:674,Disorder,[Morphological anomaly],Accessory pancreas,,"A rare asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.",,,,,,Accessory pancreas,TRUE,FALSE,Active +GARD:4540,Active,Orphanet,ORPHA:750,Disorder,[Disease],Pseudoachondroplasia,"[Pseudoachondroplastic dysplasia, Pseudoachondroplastic spondyloepiphyseal dysplasia]",Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.,[177170],,,,,Pseudoachondroplasia,TRUE,FALSE,Active +GARD:4542,Legacy,GARD,,,,,,,,,,,,Pseudoachondroplastic dysplasia 2,TRUE,FALSE,Active +GARD:4543,Active,Orphanet,ORPHA:2971,Disorder,[Disease],Peroxisomal acyl-CoA oxidase deficiency,"[Pseudo-NALD, Pseudo-neonatal adrenoleukodystrophy, Pseudoadrenoleukodystrophy]",Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.,[264470],,,,,Pseudoneonatal adrenoleukodystrophy,TRUE,FALSE,Active +GARD:4544,Active,Orphanet,ORPHA:221120,Disorder,[Malformation syndrome],Pseudoaminopterin syndrome,"[ASSA, Aminopterin syndrome-like sine aminopterin]","Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.",[600325],,,,,Pseudoaminopterin syndrome,TRUE,FALSE,Active +GARD:4545,Legacy,GARD,,,,,,,,,,,,Pseudoarylsulfatase A deficiency,TRUE,FALSE,Retired +GARD:4547,Legacy,GARD,,,,,,,,,,,,Pseudohermaphrodism anorectal anomalies,TRUE,FALSE,Active +GARD:455,Active,Orphanet+OMIM,OMIM:200400,Subtype of disorder,[Disease subtype],"Achalasia, familial esophageal",,"Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (summary by {4:Farrokhi and Vaezi, 2007} and {6:Gockel et al., 2010}).",[200400],[930],[Idiopathic achalasia],[5708],,Familial esophageal achalasia,TRUE,FALSE,Retired +GARD:4550,Active,Orphanet,ORPHA:2983,Disorder,[Disease],Disorder of sex development-intellectual disability syndrome,[Verloes-Gillerot-Fryns syndrome],"A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.",[600122],,,,,"Male pseudohermaphroditism intellectual disability syndrome, Verloes type",TRUE,FALSE,Active +GARD:4552,Active,Orphanet,ORPHA:171876,Subtype of disorder,[Clinical subtype],Generalized pseudohypoaldosteronism type 1,"[Autosomal recessive PHA1, Autosomal recessive pseudohypoaldosteronism type 1, Generalized PHA1]","A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss.",[264350],,,,,Autosomal recessive pseudohypoaldosteronism type 1,TRUE,FALSE,Active +GARD:4553,Active,Orphanet,ORPHA:757,Disorder,[Disease],Pseudohypoaldosteronism type 2,"[Chloride shunt syndrome, Familial hyperkalemic hypertension, Gordon hyperkalemia-hypertension syndrome, Hyperkalemia-hypertension syndrome, Gordon type, Hypertensive hyperkalemia, Mineralocorticoid resistant hyperkalemia, PHA2, PHAII, Spitzer-Weinstein syndrome]","A rare genetic form of hypertension characterized by hyperkalemia, mild hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, with normal renal glomerular filtration rate (GFR).","[614496, 614495, 145260, 614491, 614492]",,,,,Pseudohypoaldosteronism type 2,TRUE,FALSE,Active +GARD:4555,Legacy,GARD,,,,,,,,,,,,Pseudomarfanism,TRUE,FALSE,Retired +GARD:4556,Legacy,GARD,,,,,,,,,,,,Pseudomongolism,TRUE,FALSE,Retired +GARD:4559,Active,Orphanet,ORPHA:2980,Disorder,[Malformation syndrome],Acrootoocular syndrome,[Pseudopapilledema-blepharophimosis-hand anomalies syndrome],"A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.",[264475],,,,,Pseudopapilledema blepharophimosis hand anomalies,TRUE,FALSE,Active +GARD:456,Active,Orphanet,ORPHA:929,Disorder,[Malformation syndrome],Achalasia-microcephaly syndrome,,"An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.",[200450],,,,,Achalasia microcephaly syndrome,TRUE,FALSE,Active +GARD:4561,Active,Orphanet,ORPHA:238624,Disorder,[Disease],Idiopathic intracranial hypertension,"[Benign intracranial hypertension, IIH, Pseudotumor cerebri]","Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.",[243200],,,,,Idiopathic intracranial hypertension,TRUE,FALSE,Active +GARD:4563,Legacy,GARD,,,,,,,,,,,,"Pseudoxanthoma elasticum, dominant form",TRUE,FALSE,Retired +GARD:4564,Legacy,GARD,,,,,,,,,,,,"Pseudoxanthoma elasticum, recessive form",TRUE,FALSE,Retired +GARD:4566,Legacy,GARD,,,,,,,,,,,,Pterygium Colli,TRUE,FALSE,Retired +GARD:4568,Active,Orphanet,ORPHA:2988,Disorder,[Malformation syndrome],Pterygium colli-intellectual disability-digital anomalies syndrome,[Khalifa-Graham syndrome],"A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.",[600159],,,,,Pterygium colli mental retardation digital anomalies,TRUE,FALSE,Retired +GARD:4569,Active,Orphanet,ORPHA:2989,Disorder,[Morphological anomaly],Familial pterygium of the conjunctiva,,"A rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.",[178000],,,,,Pterygium of the conjunctiva and cornea,TRUE,FALSE,Active +GARD:457,Active,Orphanet,ORPHA:869,Disorder,[Disease],Triple A syndrome,"[2A syndrome, 3A syndrome, 4A syndrome, AAA syndrome, Achalasia-addisonianism-alacrima syndrome, Adrenal insufficiency-achalasia-alacrima syndrome, Allgrove syndrome, Double A syndrome, Quaternary A syndrome]","Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.","[615510, 231550]",,,,,Triple A syndrome,TRUE,FALSE,Active +GARD:4570,Active,Orphanet,ORPHA:2987,Disorder,[Malformation syndrome],Antecubital pterygium syndrome,,"A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation.",[178200],,,,,Antecubital pterygium,TRUE,FALSE,Active +GARD:4573,Active,Orphanet,ORPHA:79447,Disorder,[Malformation syndrome],X-linked lethal multiple pterygium syndrome,,"X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.",[312150],,,,,Multiple pterygium syndrome X-linked,TRUE,FALSE,Active +GARD:4574,Legacy,GARD,,,,,,,,,,,,Ptosis coloboma mental retardation,TRUE,FALSE,Retired +GARD:4576,Legacy,GARD,,,,,,,,,,,,Ptosis strabismus diastasis,TRUE,FALSE,Retired +GARD:4577,Active,Orphanet,ORPHA:2999,Disorder,[Malformation syndrome],Ptosis-strabismus-ectopic pupils syndrome,[McPherson-Hall syndrome],"A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.",[178330],,,,,Ptosis strabismus ectopic pupils,TRUE,FALSE,Active +GARD:458,Active,Orphanet,ORPHA:168555,Disorder,[Disease],"Spondylometaphyseal dysplasia, A4 type",,"Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.",[609052],,,,,Spondylometaphyseal dysplasia type A4,TRUE,FALSE,Active +GARD:4582,Active,Orphanet,ORPHA:264675,Disorder,[Disease],Hereditary pulmonary alveolar proteinosis,"[Congenital PAP, Congenital pulmonary alveolar proteinosis]","A rare, genetic, interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant, presenting a highly variable clinical presentation, ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive, granular eosinophilic material, enlarged foamy alveolar macrophages, and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent.","[614370, 300770]",,,,,Congenital pulmonary alveolar proteinosis,TRUE,FALSE,Active +GARD:4584,Active,Orphanet,ORPHA:2038,Disorder,[Morphological anomaly],Pulmonary arteriovenous malformation,[PAVM],An aberrant communication between one or more pulmonary arteries and one or more pulmonary veins leading to an anatomic intrapulmonary right-to-left shunt.,[265140],,,,,Pulmonary arterio-veinous fistula,TRUE,FALSE,Active +GARD:4585,Legacy,GARD,,,,,,,,,,,,Pulmonary artery agenesis,TRUE,FALSE,Active +GARD:4586,Active,Orphanet,ORPHA:99050,Disorder,[Morphological anomaly],Abnormal origin of right or left pulmonary artery from the aorta,"[Hemitruncus arteriosus, Pulmonary artery coming from the aorta]","A rare, congenital, heart malformation characterized by anomalous origin of one branch of the pulmonary arteries directly from the aorta and a normal origin of the other pulmonary artery from the main pulmonary artery coming from the right ventricular outflow tract. Patients present respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.",,,,,,Pulmonary artery coming from the aorta,TRUE,FALSE,Active +GARD:4587,Legacy,GARD,,,,,,,,,,,,Pulmonary artery familial dilatation,TRUE,FALSE,Active +GARD:4588,Active,Orphanet,ORPHA:1207,Disorder,[Morphological anomaly],Pulmonary atresia with ventricular septal defect,,"Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).",[178370],,,,,Pulmonary atresia with ventricular septal defect,TRUE,FALSE,Active +GARD:4589,Active,Orphanet,ORPHA:99084,Disorder,[Morphological anomaly],Peripheral pulmonary stenosis,"[Branch pulmonary artery stenosis, Pulmonary branch stenosis]","Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.",,,,,,Congenital pulmonary artery branch stenosis,TRUE,FALSE,Active +GARD:459,Active,Orphanet,ORPHA:93299,Subtype of disorder,[Clinical subtype],Achondrogenesis type 1A,"[Achondrogenesis, Houston-Harris type]","A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.",[200600],,,,,Achondrogenesis type 1A,TRUE,FALSE,Active +GARD:4592,Legacy,GARD,,,,,,,,,,,,"Pulmonary hypoplasia, familial primary",TRUE,FALSE,Active +GARD:4593,Active,Orphanet,ORPHA:3161,Disorder,[Malformation syndrome],Congenital pulmonary sequestration,[Congenital bronchopulmonary sequestration],"Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply. Intralobar pulmonary sequestration may be asymptomatic or may present with recurrent pulmonary infections, hemoptysis, chest pain, cough and is usually diagnosed in older children and adults. Extralobar pulmonary sequestration present with respiratory distress, cyanosis, difficulty feeding or infection, may be associated with other anomalies and is mostly diagnosed in neonates or infants.",,,,,,Pulmonary sequestration,TRUE,FALSE,Active +GARD:4594,Active,Orphanet,ORPHA:3192,Subtype of disorder,[Clinical subtype],Supravalvular pulmonary stenosis,,,,,,,,Pulmonary supravalvular stenosis,TRUE,FALSE,Active +GARD:4595,Legacy,GARD,,,,,,,,,,,,"Pulmonary surfactant protein B, deficiency of",TRUE,FALSE,Active +GARD:4596,Legacy,GARD,,,,,,,,,,,,Pulmonary valve stenosis,TRUE,FALSE,Active +GARD:4597,Active,Orphanet,ORPHA:982,Group of disorders,[Clinical group],Pulmonary valve agenesis,"[Absent pulmonary valve syndrome, Congenital absence of the pulmonary valve, PVA]","Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.",,,,,,Pulmonary valves agenesis,TRUE,FALSE,Active +GARD:4598,Active,Orphanet,ORPHA:3188,Disorder,[Morphological anomaly],Congenital pulmonary veins atresia or stenosis,,"A rare progressive and life-threatening anomaly of the great vessels characterized by narrowing and obstruction of one or more normally positioned pulmonary vein at their junction with the left atrium. Presentation is typically during early infancy with dyspnea, tachypnea, and repeated pulmonary infections. Eventually, when all pulmonary veins of one lung are affected, the disorder results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.",,,,,,Pulmonary vein stenosis,TRUE,FALSE,Active +GARD:4599,Active,Orphanet,ORPHA:3090,Group of disorders,[Clinical group],Congenital pulmonary venous return anomaly,[Congenital pulmonary venous connection anomaly],"A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous.",,,,,,Pulmonary venous return anomaly,TRUE,FALSE,Active +GARD:46,Legacy,GARD,,,,,,,,,,,,Corticobasal degeneration,TRUE,FALSE,Active +GARD:460,Active,Orphanet,ORPHA:93298,Subtype of disorder,[Clinical subtype],Achondrogenesis type 1B,"[Achondrogenesis, Parenti-Fraccaro type]","A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.",[600972],,,,,Achondrogenesis type 1B,TRUE,FALSE,Active +GARD:4600,Active,Orphanet,ORPHA:1208,Disorder,[Morphological anomaly],Pulmonary atresia-intact ventricular septum syndrome,,"A rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. It presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.",[265150],,,,,Pulmonary atresia with intact ventricular septum,TRUE,FALSE,Active +GARD:4603,Active,Orphanet,ORPHA:99710,Disorder,[Disease],Punctate acrokeratoderma freckle-like pigmentation,,A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. There have been no further descriptions in the literature since 1993.,,,,,,Punctate acrokeratoderma freckle like pigmentation,TRUE,FALSE,Retired +GARD:4606,Active,Orphanet,ORPHA:760,Disorder,[Disease],Purine nucleoside phosphorylase deficiency,"[PNP deficiency, PNPase deficiency]","A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.",[613179],,,,,Purine nucleoside phosphorylase deficiency,TRUE,FALSE,Active +GARD:4607,Active,Orphanet,ORPHA:93585,Subtype of disorder,[Clinical subtype],Immune-mediated thrombotic thrombocytopenic purpura,"[Acquired TTP, Acquired thrombotic thrombocytopenic purpura, Autoimmune thrombotic thrombocytopenic purpura, Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies, aTTP, iTTP]","A rare, non-hereditary thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.",,,,,,"Thrombotic thrombocytopenic purpura, acquired",TRUE,FALSE,Active +GARD:4610,Active,Orphanet,ORPHA:3003,Disorder,[Malformation syndrome],Pyknoachondrogenesis,[Camera syndrome],A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.,[265880],,,,,Pyknoachondrogenesis,TRUE,FALSE,Active +GARD:4611,Active,Orphanet,ORPHA:763,Disorder,[Disease],Pycnodysostosis,[Pyknodysostosis],"Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.",[265800],,,,,Pycnodysostosis,TRUE,FALSE,Active +GARD:4612,Active,Orphanet,ORPHA:3005,Disorder,[Disease],Pyle disease,"[Metaphyseal dysplasia, Pyle type]","A rare bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.",[265900],,,,,Pyle disease,TRUE,FALSE,Active +GARD:4614,Active,Orphanet,ORPHA:764,Disorder,[Disease],Pyomyositis,"[Myositis purulenta tropica, Myositis tropicans, PM, Suppurative myositis, Tropical pyomyositis]","Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.",,,,,,Pyomyositis,TRUE,FALSE,Active +GARD:4616,Legacy,GARD,,,,,,,,,,,,Pyridoxine deficiency,TRUE,FALSE,Active +GARD:4619,Legacy,GARD,,,,,,,,,,,,Pyropoikilocytosis hereditary,TRUE,FALSE,Active +GARD:4620,Active,Orphanet,ORPHA:79243,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E1-alpha deficiency,"[PDHAD, Pyruvate decarboxylase deficiency, Pyruvate dehydrogenase complex E1 component subunit alpha deficiency]","A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.",[312170],,,,,Pyruvate decarboxylase deficiency,TRUE,FALSE,Active +GARD:4621,Legacy,GARD,,,,,,,,,,,,"Pyruvate kinase deficiency, liver type",TRUE,FALSE,Active +GARD:4622,Legacy,GARD,,,,,,,,,,,,"Pyruvate kinase deficiency, muscle type",TRUE,FALSE,Retired +GARD:4624,Legacy,GARD,,,,,,,,,,,,Radial defect Robin sequence,TRUE,FALSE,Active +GARD:4626,Legacy,GARD,,,,,,,,,,,,"Radial hypoplasia, triphalangeal thumbs and hypospadias",TRUE,FALSE,Retired +GARD:4627,Active,Orphanet,ORPHA:3026,Disorder,[Malformation syndrome],Radial ray hypoplasia-choanal atresia syndrome,[Goldblatt-Viljoen syndrome],"An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.",[179270],,,,,Radial ray hypoplasia choanal atresia,TRUE,FALSE,Active +GARD:4628,Active,Orphanet,ORPHA:2712,Disorder,[Malformation syndrome],Oculofaciocardiodental syndrome,"[Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome, OFCD syndrome]","Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.",[300166],,,,,Oculofaciocardiodental syndrome,TRUE,FALSE,Active +GARD:4629,Legacy,GARD,,,,,,,,,,,,Radio-digito-facial dysplasia,TRUE,FALSE,Retired +GARD:463,Legacy,GARD,,,,,,,,,,,,Achondroplasia and Swiss type agammaglobulinemia,TRUE,FALSE,Retired +GARD:4630,Legacy,GARD,,,,,,,,,,,,Radio-ulnar synostosis type 1,TRUE,FALSE,Active +GARD:4632,Legacy,GARD,,,,,,,,,,,,Radioulnar synostosis retinal pigment abnormalities,TRUE,FALSE,Retired +GARD:4633,Active,Orphanet,ORPHA:3016,Disorder,[Malformation syndrome],Absent radius-anogenital anomalies syndrome,,"A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.",[312190],,,,,Radius absent anogenital anomalies,TRUE,FALSE,Active +GARD:4634,Active,Orphanet,ORPHA:99843,Subtype of disorder,[Clinical subtype],Leukocyte adhesion deficiency type II,"[CDG syndrome type IIc, CDG-IIc, CDG2C, LAD-II, Rambam-Hasharon syndrome, SLC35C1-CDG]","Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.",[266265],,,,,SLC35C1-CDG (CDG-IIc),TRUE,FALSE,Active +GARD:4635,Active,Orphanet,ORPHA:3018,Disorder,[Malformation syndrome],Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,"[Rambaud-Gallian syndrome, Rambaud-Gallian-Touchard syndrome]","A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.",[277175],,,,,Vascular hyalinosis,TRUE,FALSE,Active +GARD:4636,Active,Orphanet,ORPHA:1051,Disorder,[Malformation syndrome],Ramos-Arroyo syndrome,"[Corneal anesthesia-deafness-intellectual disability syndrome, Corneal anesthesia-hearing loss-intellectual disability syndrome]","Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability.",[122430],,,,,Ramos Arroyo Clark syndrome,TRUE,FALSE,Active +GARD:4637,Active,Orphanet,ORPHA:3021,Disorder,[Malformation syndrome],RAPADILINO syndrome,,"A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.",[266280],,,,,Rapadilino syndrome,TRUE,FALSE,Active +GARD:4638,Active,Orphanet,ORPHA:3023,Disorder,[Malformation syndrome],External auditory canal atresia-vertical talus-hypertelorism syndrome,[Rasmussen-Johnsen-Thomsen syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.",[133705],,,,,Rasmussen Johnsen Thomsen syndrome,TRUE,FALSE,Active +GARD:4641,Active,Orphanet,ORPHA:2278,Disorder,[Malformation syndrome],Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,[Passwell-Goodman-Siprkowski syndrome],"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.",[242530],,,,,Ichthyosis-intellectual disability-dwarfism-renal impairment,TRUE,FALSE,Active +GARD:4644,Active,Orphanet,ORPHA:1188,Disorder,[Malformation syndrome],Ataxia-deafness-intellectual disability syndrome,"[Ataxia-hearing loss-intellectual disability syndrome, Reardon-Baraitser syndrome]","A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.",[208850],,,,,Reardon Wilson Cavanagh syndrome,TRUE,FALSE,Active +GARD:4645,Legacy,GARD,,,,,,,,,,,,Recurrent peripheral facial palsy,TRUE,FALSE,Active +GARD:4646,Legacy,GARD,,,,,,,,,,,,Reductional transverse limb defects,TRUE,FALSE,Retired +GARD:4647,Active,Orphanet,ORPHA:83452,Disorder,[Disease],Complex regional pain syndrome,,"Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.",[604335],,,,,Complex regional pain syndrome,TRUE,FALSE,Active +GARD:4648,Active,Orphanet,ORPHA:772,Disorder,[Disease],Infantile Refsum disease,"[IRD, Mild PBD-ZSD, Mild peroxisome biogenesis disorder-Zellweger spectrum disorder]","Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).","[614867, 614885, 601539, 266510, 614871, 617370, 614873, 202370, 614877, 614920, 614863]",,,,,"Refsum disease, infantile form",TRUE,FALSE,Active +GARD:4649,Legacy,GARD,,,,,,,,,,,,Reginato Shiapachasse syndrome,TRUE,FALSE,Retired +GARD:465,Active,Orphanet,ORPHA:33,Disorder,[Disease],Isovaleric acidemia,[Isovaleric acid CoA dehydrogenase deficiency],"A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives.",[243500],,,,,Isovaleric acidemia,TRUE,FALSE,Active +GARD:4651,Legacy,GARD,,,,,,,,,,,,Renal adysplasia dominant type,TRUE,FALSE,Retired +GARD:4654,Legacy,GARD,,,,,,,,,,,,Renal agenesis meningomyelocele mullerian defect,TRUE,FALSE,Retired +GARD:4655,Active,Orphanet,ORPHA:2838,Disorder,[Malformation syndrome],Renal caliceal diverticuli-deafness syndrome,[Renal caliceal diverticuli-hearing loss syndrome],"Renal caliceal diverticuli-deafness syndrome is a rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.",,,,,,Renal caliceal diverticuli deafness,TRUE,FALSE,Active +GARD:4656,Legacy,GARD,,,,,,,,,,,,"Renal carcinoma, familial",TRUE,FALSE,Retired +GARD:4657,Legacy,GARD,,,,,,,,,,,,Renal dysplasia diffuse autosomal recessive,TRUE,FALSE,Retired +GARD:4658,Legacy,GARD,,,,,,,,,,,,Renal dysplasia diffuse cystic,TRUE,FALSE,Active +GARD:4661,Legacy,GARD,,,,,,,,,,,,Renal dysplasia megalocystis sirenomelia,TRUE,FALSE,Retired +GARD:4664,Legacy,GARD,,,,,,,,,,,,Renal genital middle ear anomalies,TRUE,FALSE,Active +GARD:4665,Active,Orphanet,ORPHA:3032,Disorder,[Malformation syndrome],NPHP3-related Meckel-like syndrome,"[Goldston syndrome, Meckel syndrome type 7, Meckel-like syndrome type 1, Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome]","NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.",[267010],,,,,Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia,TRUE,FALSE,Active +GARD:4666,Active,Orphanet,ORPHA:402041,Subtype of disorder,[Clinical subtype],Autosomal recessive distal renal tubular acidosis,"[AR dRTA, Autosomal recessive distal RTA]",A rare autosomal dominant form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.,"[602722, 267300]",,,,,Renal tubular acidosis with deafness,TRUE,FALSE,Active +GARD:4667,Active,Orphanet,ORPHA:18,Disorder,[Disease],Distal renal tubular acidosis,"[Classic RTA, Familial distal primary acidosis, Renal tubular acidosis type 1, dRTA]","A rare genetic or acquired renal tubular disease characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis (dRTA) is often associated with hypokalemia, other forms with hypokalemia, hyperkalemia or normokalemia.","[602722, 611590, 179800, 267300]",,,,,Distal renal tubular acidosis,TRUE,FALSE,Active +GARD:4668,Active,Orphanet,ORPHA:93608,Subtype of disorder,[Clinical subtype],Autosomal dominant distal renal tubular acidosis,[AD dRTA],"A rare autosomal dominant form of distal renal tubular acidosis characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia, hypercalciuria, nephrolithiasis and nephrocalcinosis may also develop. Renal failure has not been described.",[179800],,,,,Autosomal dominant distal renal tubular acidosis,TRUE,FALSE,Active +GARD:4669,Legacy,GARD,,,,,,,,,,,,Autosomal recessive distal renal tubular acidosis,TRUE,FALSE,Active +GARD:467,Active,Orphanet,ORPHA:35,Disorder,[Disease],Propionic acidemia,"[Ketotic hyperglycinemia, Propionic aciduria, Propionyl-CoA carboxylase deficiency]","Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.",[606054],,,,,Propionic acidemia,TRUE,FALSE,Active +GARD:4670,Legacy,GARD,,,,,,,,,,,,"Renal tubular acidosis, distal, type 3",TRUE,FALSE,Active +GARD:4671,Legacy,GARD,,,,,,,,,,,,"Renal tubular acidosis, distal, type 4",TRUE,FALSE,Retired +GARD:4672,Legacy,GARD,,,,,,,,,,,,Renier Gabreels Jasper syndrome,TRUE,FALSE,Active +GARD:4673,Legacy,GARD,,,,,,,,,,,,Renoanogenital syndrome,TRUE,FALSE,Retired +GARD:4676,Legacy,GARD,,,,,,,,,,,,Multiple respiratory chain enzyme deficiencies,TRUE,FALSE,Retired +GARD:468,Legacy,GARD,,,,,,,,,,,,Acitretin embryopathy,TRUE,FALSE,Active +GARD:4680,Active,Orphanet,ORPHA:1852,Disorder,[Disease],X-linked retinal dysplasia,,"A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated.",[312550],,,,,Retinal dysplasia X-linked,TRUE,FALSE,Active +GARD:4681,Legacy,GARD,,,,,,,,,,,,Retinal telangiectasia hypogammaglobulinemia,TRUE,FALSE,Retired +GARD:4682,Legacy,GARD,,,,,,,,,,,,Retinis pigmentosa deafness hypogenitalism,TRUE,FALSE,Retired +GARD:4683,Active,Orphanet,ORPHA:3085,Disorder,[Malformation syndrome],Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,"[Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome, Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome]","A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.",[268020],,,,,Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,TRUE,FALSE,Active +GARD:4684,Active,Orphanet+OMIM,OMIM:500004,Subtype of disorder,[Clinical subtype],Retinitis pigmentosa-deafness syndrome,"[Retinitis pigmentosa 8, formerly, retinitis pigmentosa 21, formerly]",,[500004],[231183],[Usher syndrome type 3],[5442],,Retinitis pigmentosa-deafness syndrome,TRUE,FALSE,Retired +GARD:4685,Legacy,GARD,,,,,,,,,,,,Retinohepatoendocrinologic syndrome,TRUE,FALSE,Active +GARD:4686,Legacy,GARD,,,,,,,,,,,,Retinopathy anemia CNS anomalies,TRUE,FALSE,Retired +GARD:4687,Legacy,GARD,,,,,,,,,,,,Retinopathy aplastic anemia neurological abnormalities,TRUE,FALSE,Active +GARD:4688,Legacy,GARD,,,,,,,,,,,,Retinopathy pigmentary mental retardation,TRUE,FALSE,Retired +GARD:469,Active,Orphanet,ORPHA:2561,Disorder,[Malformation syndrome],Pyramidal molars-abnormal upper lip syndrome,[Ackerman fused molar roots syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.",[200970],,,,,Pyramidal molars-abnormal upper lip syndrome,TRUE,FALSE,Active +GARD:4690,Active,Orphanet,ORPHA:792,Disorder,[Malformation syndrome],X-linked retinoschisis,"[X-linked juvenile retinoschisis, XLRS]","A rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages.",[312700],,,,,Juvenile retinoschisis,TRUE,FALSE,Active +GARD:4694,Active,Orphanet,ORPHA:3095,Disorder,[Disease],Atypical Rett syndrome,"[Atypical RTT, Rett syndrome variant]","A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.","[617903, 312750, 617904, 613454, 300672]",,,,,Atypical Rett syndrome,TRUE,FALSE,Active +GARD:4695,Active,Orphanet,ORPHA:3088,Disorder,[Malformation syndrome],Revesz syndrome,"[Dyskeratosis congenita with bilateral exudative retinopathy, Retinopathy-anemia-central nervous system anomalies syndrome, Revesz-DeBuse syndrome]","Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.",[268130],,,,,Revesz syndrome,TRUE,FALSE,Active +GARD:4696,Legacy,GARD,,,,,,,,,,,,Reynolds Neri Hermann syndrome,TRUE,FALSE,Retired +GARD:4697,Active,Orphanet,ORPHA:779,Disorder,[Disease],Reynolds syndrome,[Primary biliary cirrhosis and systemic scleroderma],Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).,[613471],,,,,Reynolds syndrome,TRUE,FALSE,Active +GARD:47,Active,Orphanet,ORPHA:79234,Subtype of disorder,[Clinical subtype],Crigler-Najjar syndrome type 1,"[Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1, Bilirubin-UGT deficiency type 1]","A form of Crigler Najjar syndrome (CNS), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated, severe and permanent jaundice with a permanent risk of bilirubin encephalopathy.",[218800],,,,,"Crigler Najjar syndrome, type 1",TRUE,FALSE,Active +GARD:4701,Active,Orphanet,ORPHA:99756,Subtype of disorder,[Clinical subtype],Alveolar rhabdomyosarcoma,,,[268220],,,,,Rhabdomyosarcoma alveolar,TRUE,FALSE,Active +GARD:4702,Active,Orphanet,ORPHA:99757,Subtype of disorder,[Clinical subtype],Embryonal rhabdomyosarcoma,,,[268210],,,,,Rhabdomyosarcoma embryonal,TRUE,FALSE,Active +GARD:4703,Active,Orphanet,ORPHA:2831,Disorder,[Malformation syndrome],"Rhizomelic dysplasia, Patterson-Lowry type",,"Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.",[601438],,,,,Rhizomelic dysplasia Patterson Lowry type,TRUE,FALSE,Active +GARD:4704,Active,Orphanet,ORPHA:93569,Disorder,[Disease],Polymyalgia rheumatica,[Rhizomelic pseudopolyarthritis],"A rare rheumatologic disease characterized by bilateral morning stiffness which lasts > 45-60 min of duration associated with a subacute-onset of severe pain with active movements, typically affecting the shoulders, proximal upper limbs, neck and/or, less commonly, the pelvic girdle and proximal aspects of thighs, which are exacerbated with inactivity and improve progressively over the day. Muscle tenderness, peripheral synovitis, arthritis, carpal tunnel syndrome or distal tenosynovitis, as well as non-specific symptoms, such as fatigue, asthenia, malaise, low-grade fever, anorexia and weight loss, may be associated. Acute phase reactants (erythrocyte sedimentation rate, C-reactive protein) are increased.",,,,,,Rhizomelic pseudopolyarthritis,TRUE,FALSE,Active +GARD:4705,Active,Orphanet,ORPHA:3098,Disorder,[Malformation syndrome],"Rhizomelic syndrome, Urbach type",,"Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.",[268250],,,,,Rhizomelic syndrome,TRUE,FALSE,Active +GARD:4708,Legacy,GARD,,,,,,,,,,,,Richieri-Costa Colletto Otto syndrome,TRUE,FALSE,Retired +GARD:4709,Active,Orphanet,ORPHA:3101,Disorder,[Malformation syndrome],Richieri Costa-da Silva syndrome,[Myotonia-intellectual disability-skeletal anomalies syndrome],"Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.",[255710],,,,,Richieri Costa Da Silva syndrome,TRUE,FALSE,Active +GARD:4711,Legacy,GARD,,,,,,,,,,,,Richieri Costa Guion Almeida syndrome,TRUE,FALSE,Retired +GARD:4712,Legacy,GARD,,,,,,,,,,,,Richieri-Costa Guion-Almeida Cohen syndrome,TRUE,FALSE,Active +GARD:4717,Legacy,GARD,,,,,,,,,,,,Richieri Costa Orquizas syndrome,TRUE,FALSE,Retired +GARD:4718,Active,Orphanet,ORPHA:3102,Disorder,[Malformation syndrome],Richieri Costa-Pereira syndrome,"[Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome, Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome]","Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.",[268305],,,,,Richieri Costa Pereira syndrome,TRUE,FALSE,Active +GARD:4720,Legacy,GARD,,,,,,,,,,,,Right atrium familial dilatation,TRUE,FALSE,Active +GARD:4721,Active,Orphanet,ORPHA:439,Disorder,[Morphological anomaly],Isolated right ventricular hypoplasia,,"Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.",[277200],,,,,Right ventricle hypoplasia,TRUE,FALSE,Active +GARD:4722,Active,Orphanet,ORPHA:178303,Disorder,[Malformation syndrome],8q22.1 microdeletion syndrome,"[Monosomy 8q22.1, Nablus mask-like facial syndrome]",The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.,[608156],,,,,Nablus mask-like facial syndrome,TRUE,FALSE,Active +GARD:4723,Active,Orphanet,ORPHA:97244,Disorder,[Disease],Rigid spine syndrome,[Rigid spine congenital muscular dystrophy],"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.",[602771],,,,,Rigid spine syndrome,TRUE,FALSE,Active +GARD:4724,Active,Orphanet,ORPHA:1441,Disorder,[Malformation syndrome],Ring chromosome 17 syndrome,"[Ring 17, Ring chromosome 17]","Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.",,,,,,Ring chromosome 17,TRUE,FALSE,Active +GARD:4725,Legacy,GARD,,,,,,,,,,,,Ringed hair disease,TRUE,FALSE,Active +GARD:4729,Active,Orphanet,ORPHA:3104,Disorder,[Malformation syndrome],Robin sequence-oligodactyly syndrome,[Pierre Robin sequence-oligodactyly syndrome],"Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.",[172880],,,,,Robin sequence and oligodactyly,TRUE,FALSE,Active +GARD:4730,Active,Orphanet+OMIM,OMIM:180750,Subtype of disorder,[Malformation syndrome subtype],Robinow-sorauf syndrome,"[Craniosynostosis-bifid hallux syndrome, acrocephalosyndactyly, robinow-sorauf type]",,[180750],[794],[Saethre-Chotzen syndrome],[7598],,Robinow Sorauf syndrome,TRUE,FALSE,Retired +GARD:4732,Active,Orphanet,ORPHA:79499,Disorder,[Malformation syndrome],Autosomal dominant deafness-onychodystrophy syndrome,"[Autosomal dominant hearing loss-onychodystrophy syndrome, DDOD syndrome]","A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges.",[124480],,,,,Autosomal dominant deafness-onychodystrophy syndrome,TRUE,FALSE,Active +GARD:4733,Active,Orphanet,ORPHA:529,Disorder,[Disease],Roch-Leri mesosomatous lipomatosis,,"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.",,,,,,Roch-Leri mesosomatous lipomatosis,TRUE,FALSE,Active +GARD:4734,Legacy,GARD,,,,,,,,,,,,Rod myopathy,TRUE,FALSE,Retired +GARD:4735,Legacy,GARD,,,,,,,,,,,,Rodini Richieri Costa syndrome,TRUE,FALSE,Retired +GARD:4737,Active,Orphanet,ORPHA:247775,Subtype of disorder,[Clinical subtype],Mayer-Rokitansky-Küster-Hauser syndrome type 1,"[Congenital absence of uterus and vagina, MRKH syndrome type 1, Rokitansky sequence]","Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome (see this term), is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.",[277000],,,,,Rokitansky sequence,TRUE,FALSE,Active +GARD:4738,Active,Orphanet,ORPHA:3110,Disorder,[Disease],Rombo syndrome,,"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.",[180730],,,,,Rombo syndrome,TRUE,FALSE,Active +GARD:4739,Legacy,GARD,,,,,,,,,,,,Rommen Mueller Sybert syndrome,TRUE,FALSE,Active +GARD:4740,Active,Orphanet,ORPHA:1837,Disorder,[Disease],Ulna metaphyseal dysplasia syndrome,[Rosenberg-Lohr syndrome],"Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.",[191420],,,,,Ulna metaphyseal dysplasia syndrome,TRUE,FALSE,Active +GARD:4741,Active,Orphanet,ORPHA:3115,Disorder,[Disease],Roussy-Lévy syndrome,"[Hereditary areflexic dystasia, Roussy-Lévy type]","A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant.",[180800],,,,,Roussy Levy syndrome,TRUE,FALSE,Active +GARD:4742,Legacy,GARD,,,,,,,,,,,,Rubella,TRUE,FALSE,Active +GARD:4744,Active,Orphanet,ORPHA:290,Disorder,[Disease],Congenital rubella syndrome,"[CRS, Fetal rubella syndrome, Mother-to-child transmission of rubella syndrome]","An infectious embryofetopathy that may present in an infant as a result of maternal infection early in pregnancy and subsequent fetal infection with rubella virus. The disorder can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.",,,,,,Congenital rubella,TRUE,FALSE,Active +GARD:4745,Legacy,GARD,,,,,,,,,,,,Rubinstein Taybi like syndrome,TRUE,FALSE,Active +GARD:4747,Legacy,GARD,,,,,,,,,,,,Ruvalcaba Churesigaew Myhre syndrome,TRUE,FALSE,Active +GARD:4748,Active,Orphanet,ORPHA:3121,Disorder,[Malformation syndrome],Ruvalcaba syndrome,,"Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.",[180870],,,,,Ruvalcaba syndrome,TRUE,FALSE,Active +GARD:475,Active,Orphanet,ORPHA:26348,Disorder,[Disease],Acquired prothrombin deficiency,[Acquired hypoprothrombinemia],,,,,,,Acquired hypoprothrombinemia,TRUE,FALSE,Retired +GARD:4751,Legacy,GARD,,,,,,,,,,,,Sacral defect with anterior meningocele,TRUE,FALSE,Retired +GARD:4752,Active,Orphanet,ORPHA:2351,Disorder,[Malformation syndrome],Kousseff syndrome,[Sacral meningocele-conotruncal heart defects syndrome],"A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.",,,,,,Sacral meningocele conotruncal heart defects,TRUE,FALSE,Active +GARD:4754,Active,Orphanet,ORPHA:309334,Subtype of disorder,[Clinical subtype],Salla disease,,,[604369],,,,,Salla disease,TRUE,FALSE,Active +GARD:476,Active,Orphanet,ORPHA:454,Disorder,[Disease],Acquired ichthyosis,,"A rare epidermal disease characterized by rough, dry skin with prominent, plate-like scaling. It is non-hereditary and usually arises during adulthood in the context of a variety of diseases or conditions, like various types of cancer, autoimmune diseases, endocrine disorders, nutritional deficiencies, but also as a side effect of certain medications. Severity depends on the underlying disease or condition.",,,,,,"Ichthyosis, acquired",TRUE,FALSE,Active +GARD:4766,Legacy,GARD,,,,,,,,,,,,Childhood-Onset Schizophrenia,TRUE,FALSE,Active +GARD:4767,Active,Orphanet,ORPHA:252164,Disorder,[Disease],Benign schwannoma,"[Neurilemmoma, Neurilemoma, Peripheral fibroblastoma]","A rare benign peripheral nerve sheath tumor characterized by a usually encapsulated space-occupying lesion composed of differentiated neoplastic Schwann cells. It most commonly arises from peripheral nerves in the head and neck region and extensor aspects of the extremities, but also from spinal and cranial nerves, especially the vestibular nerve. The tumor may be asymptomatic or cause symptoms related to a mass effect. It grows slowly and only rarely undergoes malignant transformation.",,,,,,Schwannoma,TRUE,FALSE,Active +GARD:4768,Active,Orphanet,ORPHA:93921,Disorder,[Disease],Schwannomatosis,"[NF3, Neurilemmomatosis, Neurofibromatosis type 3]","A rare form of neurofibromatosis characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves, and often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.","[162260, 615670, 162091]",,,,,Schwannomatosis,TRUE,FALSE,Active +GARD:4769,Active,Orphanet,ORPHA:75840,Disorder,[Disease],"Congenital muscular dystrophy, Ullrich type","[Scleroatonic muscular dystrophy, UCMD, Ullrich disease]","Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.","[254090, 616470]",,,,,Ullrich congenital muscular dystrophy,TRUE,FALSE,Active +GARD:4770,Legacy,GARD,,,,,,,,,,,,Sclerosing bone dysplasia mental retardation,TRUE,FALSE,Retired +GARD:4771,Active,Orphanet,ORPHA:3152,Disorder,[Malformation syndrome],Sclerosteosis,[Cortical hyperostosis-syndactyly syndrome],"Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.","[614305, 269500]",,,,,Sclerosteosis,TRUE,FALSE,Active +GARD:4773,Legacy,GARD,,,,,,,,,,,,Scoliosis with unilateral unsegmented bar,TRUE,FALSE,Retired +GARD:4774,Active,Orphanet,ORPHA:832,Disorder,[Disease],Succinyl-CoA:3-oxoacid CoA transferase deficiency,"[OXCT1 deficiency, SCOT deficiency, Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA:3-ketoacid CoA transferase deficiency]","A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.",[245050],,,,,SCOT deficiency,TRUE,FALSE,Active +GARD:4775,Active,Orphanet,ORPHA:915,Disorder,[Malformation syndrome],Aarskog-Scott syndrome,"[Aarskog syndrome, Faciodigitogenital syndrome, Faciogenital dysplasia]","A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.","[100050, 305400]",,,,,Aarskog syndrome,TRUE,FALSE,Active +GARD:4776,Active,Orphanet,ORPHA:1514,Disorder,[Malformation syndrome],Craniodigital-intellectual disability syndrome,"[Scott craniodigital syndrome, Scott-Bryant-Graham syndrome]","Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.",,,,,,Scott Bryant Graham syndrome,TRUE,FALSE,Active +GARD:4777,Active,Orphanet,ORPHA:806,Disorder,[Disease],Scott syndrome,,Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.,[262890],,,,,Scott syndrome,TRUE,FALSE,Active +GARD:4778,Active,Orphanet,ORPHA:1778,Disorder,[Malformation syndrome],Facial dysmorphism-shawl scrotum-joint laxity syndrome,[Seaver-Cassidy syndrome],"Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.",,,,,,Seaver Cassidy syndrome,TRUE,FALSE,Active +GARD:478,Legacy,GARD,,,,,,,,,,,,Acral dysostosis dyserythropoiesis syndrome,TRUE,FALSE,Active +GARD:4780,Legacy,GARD,,,,,,,,,,,,Sebocystomatosis,TRUE,FALSE,Retired +GARD:4781,Legacy,GARD,,,,,,,,,,,,Seckel like syndrome Majoor-Krakauer type,TRUE,FALSE,Active +GARD:4787,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis type 5,TRUE,FALSE,Retired +GARD:4789,Legacy,GARD,,,,,,,,,,,,Seizures benign familial neonatal recessive form,TRUE,FALSE,Retired +GARD:4790,Legacy,GARD,,,,,,,,,,,,Seizures mental retardation hair dysplasia,TRUE,FALSE,Retired +GARD:4791,Legacy,GARD,,,,,,,,,,,,Selig Benacerraf Greene syndrome,TRUE,FALSE,Active +GARD:4792,Active,Orphanet,ORPHA:842,Disorder,[Disease],Testicular seminomatous germ cell tumor,"[Seminoma of testis, Seminomatous germ cell tumor of testis, Testicular seminoma]","Testicular seminomatous germ cell tumor is a rare testicular germ cell tumor (see this term), most commonly presenting with a painless mass in the scrotum, with a very high cure rate if caught in the early stages.",[273300],,,,,Testicular seminoma,TRUE,FALSE,Active +GARD:4793,Legacy,GARD,,,,,,,,,,,,Semmekrot Haraldsson Weemaes syndrome,TRUE,FALSE,Retired +GARD:4798,Legacy,GARD,,,,,,,,,,,,Sensory neuropathy type 1,TRUE,FALSE,Retired +GARD:48,Active,Orphanet,ORPHA:254905,Disorder,[Disease],Isolated cytochrome C oxidase deficiency,"[Isolated COX deficiency, Isolated mitochondrial respiratory chain complex IV deficiency]","A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy, and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver.","[619048, 619063, 220110, 619064, 619355, 619051, 619058, 619059, 619060, 619052, 619046, 619053, 619054, 619061, 619055, 619062]",,,,,Cytochrome c oxidase deficiency,TRUE,FALSE,Active +GARD:480,Active,Orphanet,ORPHA:958,Disorder,[Malformation syndrome],Acro-renal-mandibular syndrome,[Split hand/split foot-mandibular hypoplasia syndrome],"A very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.",[200980],,,,,Acrorenal mandibular syndrome,TRUE,FALSE,Active +GARD:4800,Legacy,GARD,,,,,,,,,,,,Senter syndrome,TRUE,FALSE,Retired +GARD:4801,Legacy,GARD,,,,,,,,,,,,Seow Najjar syndrome,TRUE,FALSE,Active +GARD:4804,Legacy,GARD,,,,,,,,,,,,Sequeiros Sack syndrome,TRUE,FALSE,Retired +GARD:4805,Legacy,GARD,,,,,,,,,,,,Seres-Santamaria Arimany Muniz syndrome,TRUE,FALSE,Active +GARD:4815,Active,Orphanet,ORPHA:29822,Disorder,[Disease],Spontaneous periodic hypothermia,"[Episodic spontaneous hypothermia, Shapiro syndrome]",A rare neurologic disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.,,,,,,Shapiro syndrome,TRUE,FALSE,Active +GARD:4817,Legacy,GARD,,,,,,,,,,,,Sharp syndrome,TRUE,FALSE,Retired +GARD:4818,Active,Orphanet,ORPHA:810,Disorder,[Disease],Shigellosis,,"Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts.",,,,,,Shigellosis,TRUE,FALSE,Active +GARD:4819,Legacy,GARD,,,,,,,,,,,,Shih Filkins syndrome,TRUE,FALSE,Retired +GARD:4821,Legacy,GARD,,,,,,,,,,,,Short broad great toe macrocranium,TRUE,FALSE,Retired +GARD:4822,Active,Orphanet,ORPHA:26792,Disorder,[Disease],Short chain acyl-CoA dehydrogenase deficiency,"[ACADS deficiency, SCAD deficiency, SCADD]","Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.",[201470],,,,,Short-chain acyl-CoA dehydrogenase deficiency,TRUE,FALSE,Active +GARD:4823,Legacy,GARD,,,,,,,,,,,,Short limb dwarf lethal Colavita Kozlowski type,TRUE,FALSE,Retired +GARD:4824,Legacy,GARD,,,,,,,,,,,,"Lethal short-limb dwarfism, McAlister-Crane type",TRUE,FALSE,Retired +GARD:4826,Legacy,GARD,,,,,,,,,,,,Short limb dwarf edema iris coloboma,TRUE,FALSE,Retired +GARD:4827,Legacy,GARD,,,,,,,,,,,,Lethal short limb skeletal dysplasia Al Gazali type,TRUE,FALSE,Active +GARD:4828,Legacy,GARD,,,,,,,,,,,,Short limbs abnormal face congenital heart disease,TRUE,FALSE,Retired +GARD:4829,Legacy,GARD,,,,,,,,,,,,Short limbs subluxed knees cleft palate,TRUE,FALSE,Retired +GARD:483,Legacy,GARD,,,,,,,,,,,,Acro coxo mesomelic dysplasia,TRUE,FALSE,Retired +GARD:4832,Active,Orphanet,ORPHA:93268,Disorder,[Malformation syndrome],"Short rib-polydactyly syndrome, Beemer-Langer type",[Short rib-polydactyly syndrome type 4],"A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others.",[269860],,,,,Short rib-polydactyly syndrome type 4,TRUE,FALSE,Active +GARD:4833,Active,Orphanet,ORPHA:93269,Disorder,[Malformation syndrome],"Short rib-polydactyly syndrome, Majewski type",[Short rib-polydactyly syndrome type 2],"A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period.","[263520, 613091]",,,,,"Short rib-polydactyly syndrome, Majewski type",TRUE,FALSE,Active +GARD:4834,Active,Orphanet,ORPHA:93270,Disorder,[Malformation syndrome],"Short rib-polydactyly syndrome, Saldino-Noonan type",[Short rib-polydactyly syndrome type 1],"A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age.",[613091],,,,,Short rib-polydactyly syndrome type 1,TRUE,FALSE,Active +GARD:4835,Active,Orphanet,ORPHA:93271,Disorder,[Malformation syndrome],"Short rib-polydactyly syndrome, Verma-Naumoff type",[Short rib-polydactyly syndrome type 3],"A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period.","[615633, 614091, 615503, 613091]",,,,,Short rib-polydactyly syndrome type 3,TRUE,FALSE,Active +GARD:4836,Legacy,GARD,,,,,,,,,,,,Short ribs craniosynostosis polysyndactyly,TRUE,FALSE,Retired +GARD:4837,Legacy,GARD,,,,,,,,,,,,Short stature abnormal skin pigmentation mental retardation,TRUE,FALSE,Retired +GARD:4838,Active,Orphanet,ORPHA:2867,Disorder,[Malformation syndrome],"Short stature, Brussels type",[Mievis-Verellen-Dumoulin syndrome],"A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996.",[601350],,,,,"Short stature syndrome, Brussels type",TRUE,FALSE,Active +GARD:4839,Legacy,GARD,,,,,,,,,,,,Short stature contractures hypotonia,TRUE,FALSE,Retired +GARD:484,Active,Orphanet,ORPHA:1784,Disorder,[Malformation syndrome],Acrofrontofacionasal dysostosis,[Richieri-Costa-Colletto syndrome],A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.,[201180],,,,,Acrofrontofacionasal dysostosis syndrome,TRUE,FALSE,Active +GARD:4840,Legacy,GARD,,,,,,,,,,,,Short stature cranial hyperostosis hepatomegaly,TRUE,FALSE,Retired +GARD:4841,Active,Orphanet,ORPHA:2866,Disorder,[Malformation syndrome],Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,"[Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome, Thong-Douglas-Ferrante syndrome]","A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.",,,,,,Short stature deafness neutrophil dysfunction,TRUE,FALSE,Active +GARD:4842,Legacy,GARD,,,,,,,,,,,,Short stature dysmorphic face pelvic scapula dysplasia,TRUE,FALSE,Retired +GARD:4845,Legacy,GARD,,,,,,,,,,,,Finger locking recurrent with intrauterine growth retardation and proportionate short stature,TRUE,FALSE,Retired +GARD:4846,Legacy,GARD,,,,,,,,,,,,Short stature mental retardation eye anomalies,TRUE,FALSE,Retired +GARD:4849,Legacy,GARD,,,,,,,,,,,,Short stature microcephaly seizures deafness,TRUE,FALSE,Retired +GARD:4850,Legacy,GARD,,,,,,,,,,,,Short stature monodactylous ectrodactyly cleft palate,TRUE,FALSE,Retired +GARD:4851,Legacy,GARD,,,,,,,,,,,,Short stature prognathism short femoral necks,TRUE,FALSE,Retired +GARD:4852,Legacy,GARD,,,,,,,,,,,,Short stature Robin sequence cleft mandible hand anomalies clubfoot,TRUE,FALSE,Retired +GARD:4853,Legacy,GARD,,,,,,,,,,,,Short stature talipes natal teeth,TRUE,FALSE,Retired +GARD:4854,Legacy,GARD,,,,,,,,,,,,Short stature valvular heart disease,TRUE,FALSE,Retired +GARD:4856,Active,Orphanet,ORPHA:2863,Disorder,[Malformation syndrome],Short stature-wormian bones-dextrocardia syndrome,[Stratton-Parker syndrome],"A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).",[185120],,,,,Short stature wormian bones dextrocardia,TRUE,FALSE,Active +GARD:4859,Legacy,GARD,,,,,,,,,,,,Shoulder and thorax deformity congenital heart disease,TRUE,FALSE,Retired +GARD:486,Legacy,GARD,,,,,,,,,,,,Acrocephalopolydactyly,TRUE,FALSE,Retired +GARD:4860,Legacy,GARD,,,,,,,,,,,,Shoulder girdle defect mental retardation familial,TRUE,FALSE,Retired +GARD:4861,Active,Orphanet,ORPHA:2462,Disorder,[Malformation syndrome],Shprintzen-Goldberg syndrome,"[Marfanoid craniosynostosis syndrome, SGS]","Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.",[182212],,,,,Shprintzen-Goldberg craniosynostosis syndrome,TRUE,FALSE,Active +GARD:4863,Active,Orphanet,ORPHA:811,Disorder,[Disease],Shwachman-Diamond syndrome,"[Pancreatic insufficiency and bone marrow dysfunction, SDS, Shwachman syndrome, Shwachman-Bodian-Diamond syndrome]","Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.","[617941, 260400]",,,,,Shwachman-Diamond syndrome,TRUE,FALSE,Active +GARD:4865,Active,Orphanet,ORPHA:3166,Disorder,[Disease],Sialuria,"[Sialuria, French type]","An extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.",[269921],,,,,"Sialuria, French type",TRUE,FALSE,Active +GARD:4867,Active,Orphanet,ORPHA:3167,Disorder,[Malformation syndrome],Siegler-Brewer-Carey syndrome,,"A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992.",,,,,,Siegler Brewer Carey syndrome,TRUE,FALSE,Active +GARD:4868,Legacy,GARD,,,,,,,,,,,,Silengo Lerone Pelizza syndrome,TRUE,FALSE,Active +GARD:4869,Active,Orphanet,ORPHA:3168,Disorder,[Malformation syndrome],Sillence syndrome,[Brachydactyly-symphalangism syndrome],"Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.",[113450],,,,,Sillence syndrome,TRUE,FALSE,Active +GARD:4870,Active,Orphanet,ORPHA:813,Disorder,[Disease],Silver-Russell syndrome,[Silver-Russell dwarfism],"Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.","[312780, 180860, 616489]",,,,,Russell-Silver syndrome,TRUE,FALSE,Active +GARD:4871,Legacy,GARD,,,,,,,,,,,,Silvery hair syndrome,TRUE,FALSE,Retired +GARD:4873,Active,Orphanet,ORPHA:1968,Disorder,[Malformation syndrome],Flat face-microstomia-ear anomaly syndrome,"[Blepharophimosis-telecanthus-microstomia syndrome, Simosa craniofacial syndrome, Simosa-Penchaszadeh-Bustos syndrome]","Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.",[182150],,,,,Simosa cranio facial syndrome,TRUE,FALSE,Active +GARD:4876,Legacy,GARD,,,,,,,,,,,,Singh Chhaparwal Dhanda syndrome,TRUE,FALSE,Active +GARD:4877,Active,Orphanet+OMIM,OMIM:147250,Subtype of disorder,[Malformation syndrome subtype],Solitary median maxillary central incisor,"[single central maxillary incisor, fused incisors, Incisors, fused, single upper central incisor]",,[147250],[280200],[Microform holoprosencephaly],[17290],,Single upper central incisor,TRUE,FALSE,Active +GARD:4878,Legacy,GARD,,,,,,,,,,,,Single ventricular heart,TRUE,FALSE,Active +GARD:4879,Active,Orphanet+OMIM,OMIM:140400,Subtype of disorder,[Disease subtype],"Progressive familial heart block, type ii",,"Progressive familial heart block type II (PFHB2) is an autosomal dominant disorder, similar to type I progressive familial heart block (PFHB1; see {113900}). The pattern of PFHB2, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes ({1:Brink and Torrington, 1977}).",[140400],[871],[Familial progressive cardiac conduction defect],[10005],,Progressive familial heart block type 2,TRUE,FALSE,Active +GARD:4880,Active,Orphanet+OMIM,OMIM:182190,Subtype of disorder,[Disease subtype],Sinus node disease and myopia,"[Sick sinus syndrome and myopia, sss-myopia syndrome]","See {163800} for a discussion of disturbance of the sinoatrial node, including the so-called sick sinus syndrome (SSS). {1:Onat (1986)} described SSS in father, daughter and son. The 2 elder affected persons had severe degenerative myopia. It was suggested that the youngest affected person, still under age 7 years, might develop this feature.",[182190],[166282],[Familial sick sinus syndrome],[13663],,Sinus node disease and myopia,TRUE,FALSE,Active +GARD:4881,Active,Orphanet,ORPHA:247698,Subtype of disorder,[Clinical subtype],Multiple endocrine neoplasia type 2A,"[MEN2A, PTC syndrome, Sipple syndrome]","A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B, before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and, less frequently, cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone.",[171400],,,,,Multiple endocrine neoplasia type 2A,TRUE,FALSE,Active +GARD:4883,Active,Orphanet,ORPHA:101063,Disorder,[Morphological anomaly],Situs inversus totalis,"[Complete situs inversus, Complete situs inversus viscerum, Situs inversus]","A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated.",,,,,,Situs inversus,TRUE,FALSE,Active +GARD:4885,Legacy,GARD,,,,,,,,,,,,Sjogren-Larsson-like syndrome,TRUE,FALSE,Active +GARD:4886,Active,Orphanet,ORPHA:2565,Disorder,[Malformation syndrome],Mononen-Karnes-Senac syndrome,[Skeletal dysplasia-brachydactyly syndrome],"Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.",[301940],,,,,Brachydactyly Mononen type,TRUE,FALSE,Active +GARD:4888,Legacy,GARD,,,,,,,,,,,,Skeletal dysplasia orofacial anomalies,TRUE,FALSE,Retired +GARD:4889,Legacy,GARD,,,,,,,,,,,,"Skeletal dysplasia, San Diego type",TRUE,FALSE,Active +GARD:4890,Legacy,GARD,,,,,,,,,,,,Skeleto cardiac syndrome with thrombocytopenia,TRUE,FALSE,Retired +GARD:4891,Active,Orphanet,ORPHA:83629,Disorder,[Disease],Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,"[H-SMD, Hypomyelination-spondyloepimetaphyseal dysplasia syndrome, Leukoencephalopathy-SEMD syndrome, Leukoencephalopathy-metaphyseal chondrodysplasia syndrome]","A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.",[300232],,,,,Leukoencephalopathy-spondylometaphyseal dysplasia syndrome,TRUE,FALSE,Active +GARD:4893,Legacy,GARD,,,,,,,,,,,,Slavotinek Pike Mills Hurst syndrome,TRUE,FALSE,Active +GARD:4894,Legacy,GARD,,,,,,,,,,,,Small non-cleaved cell lymphoma,TRUE,FALSE,Retired +GARD:4898,Active,Orphanet,ORPHA:3394,Group of disorders,[Clinical group],Soft tissue sarcoma,"[Malignant mesenchymal tumor, Malignant soft tissue tumor, Soft part sarcoma]",,,,,,,Soft tissue sarcoma,TRUE,FALSE,Active +GARD:4899,Active,Orphanet,ORPHA:2234,Disorder,[Malformation syndrome],Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,[Sohval-Soffer syndrome],"This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.",[307500],,,,,Sohval Soffer syndrome,TRUE,FALSE,Active +GARD:49,Active,Orphanet,ORPHA:2962,Disorder,[Disease],De Barsy syndrome,"[Cutis laxa-corneal clouding-intellectual disability syndrome, Progeroid syndrome, De Barsy type]","De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.","[219150, 614438]",,,,,De Barsy syndrome,TRUE,FALSE,Active +GARD:4900,Active,Orphanet,ORPHA:97283,Disorder,[Disease],Somatostatinoma,,"Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in approximately 20% of pancreatic cases, leads to a somatostatin hypersecretion syndrome (somatostatinoma syndrome) characterized by diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria.",,,,,,Somatostatinoma,TRUE,FALSE,Active +GARD:4905,Active,Orphanet,ORPHA:1355,Disorder,[Malformation syndrome],Congenital heart defect-round face-developmental delay syndrome,[Sonoda syndrome],"A very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.",[270460],,,,,Sonoda syndrome,TRUE,FALSE,Active +GARD:4906,Legacy,GARD,,,,,,,,,,,,Sosby syndrome,TRUE,FALSE,Retired +GARD:4907,Legacy,GARD,,,,,,,,,,,,Sparse hair ptosis mental retardation,TRUE,FALSE,Retired +GARD:4908,Legacy,GARD,,,,,,,,,,,,Congenital torticollis,TRUE,FALSE,Active +GARD:4909,Legacy,GARD,,,,,,,,,,,,Spastic angina with healthy coronary artery,TRUE,FALSE,Active +GARD:491,Active,Orphanet,ORPHA:2956,Disorder,[Malformation syndrome],Acrodysplasia scoliosis,"[Brachydactyly-scoliosis-carpal fusion syndrome, Prata-Liberal-Goncalves syndrome]","A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.",,,,,,Acrodysplasia scoliosis,TRUE,FALSE,Active +GARD:4910,Active,Orphanet,ORPHA:98,Disorder,[Disease],Autosomal recessive spastic ataxia of Charlevoix-Saguenay,"[ARSACS, Autosomal recessive spastic ataxia type 6, SPAX6]","Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.",[270550],,,,,Spastic ataxia Charlevoix-Saguenay type,TRUE,FALSE,Active +GARD:4911,Legacy,GARD,,,,,,,,,,,,Spastic diplegia infantile type,TRUE,FALSE,Active +GARD:4912,Legacy,GARD,,,,,,,,,,,,Spastic paraparesis,TRUE,FALSE,Active +GARD:4914,Active,Orphanet,ORPHA:293168,Disorder,[Disease],Infantile-onset ascending hereditary spastic paralysis,[IAHSP],"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.",[607225],,,,,Infantile-onset ascending hereditary spastic paralysis,TRUE,FALSE,Active +GARD:4915,Legacy,GARD,,,,,,,,,,,,Spastic paraplegia-epilepsy-intellectual disability syndrome,TRUE,FALSE,Active +GARD:4917,Legacy,GARD,,,,,,,,,,,,Spastic paraplegia 5B,TRUE,FALSE,Active +GARD:4918,Active,Orphanet,ORPHA:2826,Disorder,[Disease],Spastic paraplegia-precocious puberty syndrome,,Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.,[182820],,,,,Spastic paraplegia with precocious puberty,TRUE,FALSE,Active +GARD:4919,Active,Orphanet,ORPHA:2822,Disorder,[Disease],Autosomal recessive spastic paraplegia type 11,"[Nakamura-Osame syndrome, SPG11, Spastic paraplegia-intellectual disability-thin corpus callosum syndrome]","A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.",[604360],,,,,Spastic paraplegia 11,TRUE,FALSE,Active +GARD:4921,Active,Orphanet,ORPHA:2821,Disorder,[Disease],Spastic paraplegia-neuropathy-poikiloderma syndrome,[Antinolo-Nieto-Borrego syndrome],"A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.",[182815],,,,,Spastic paraplegia neuropathy poikiloderma,TRUE,FALSE,Active +GARD:4922,Active,Orphanet,ORPHA:209951,Disorder,[Disease],Autosomal recessive spastic paraplegia type 18,[SPG18],"Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.",[611225],,,,,Spastic paraplegia 18,TRUE,FALSE,Active +GARD:4923,Active,Orphanet,ORPHA:99015,Disorder,[Disease],Spastic paraplegia type 2,"[SPG2, Spastic gait type 2, Spastic paraparesis type 2, X-linked spastic paraplegia type 2]","A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.",[312920],,,,,Spastic paraplegia 2,TRUE,FALSE,Active +GARD:4924,Active,Orphanet,ORPHA:139480,Disorder,[Disease],Autosomal recessive spastic paraplegia type 39,"[SPG39, Spastic paraplegia due to NTE mutation, Spastic paraplegia due to neuropathy target esterase mutation]",A rare autosomal recessive spastic paraplegia characterized by progressive spastic paraplegia and distal muscle wasting.,[612020],,,,,Spastic paraplegia 39,TRUE,FALSE,Active +GARD:4925,Active,Orphanet,ORPHA:100985,Disorder,[Disease],Autosomal dominant spastic paraplegia type 4,[SPG4],"A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.",[182601],,,,,Spastic paraplegia 4,TRUE,FALSE,Active +GARD:4926,Active,Orphanet,ORPHA:100986,Disorder,[Disease],Autosomal recessive spastic paraplegia type 5A,[SPG5A],"Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.",[270800],,,,,Spastic paraplegia 5A,TRUE,FALSE,Active +GARD:4927,Active,Orphanet,ORPHA:99013,Disorder,[Disease],Spastic paraplegia type 7,[SPG7],"A form of hereditary spastic ataxia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia.",[607259],,,,,Spastic paraplegia 7,TRUE,FALSE,Active +GARD:4928,Active,Orphanet,ORPHA:100988,Disorder,[Disease],Autosomal dominant spastic paraplegia type 6,[SPG6],"A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.",[600363],,,,,Spastic paraplegia 6,TRUE,FALSE,Active +GARD:4931,Active,Orphanet,ORPHA:2818,Disorder,[Disease],Spastic paraplegia-glaucoma-intellectual disability syndrome,,"Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.",[270850],,,,,Spastic paraplegia-glaucoma-intellectual disability syndrome,TRUE,FALSE,Active +GARD:4932,Active,Orphanet,ORPHA:3011,Disorder,[Disease],Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,[Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome],"A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.",[270950],,,,,Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,TRUE,FALSE,Active +GARD:4933,Legacy,GARD,,,,,,,,,,,,Spasticity mental retardation,TRUE,FALSE,Retired +GARD:4936,Active,Orphanet,ORPHA:3449,Disorder,[Malformation syndrome],Weill-Marchesani syndrome,[Spherophakia-brachymorphia syndrome],"Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.","[614819, 608328, 277600]",,,,,Weill-Marchesani syndrome,TRUE,FALSE,Active +GARD:4938,Active,Orphanet,ORPHA:79264,Disorder,[Disease],Juvenile neuronal ceroid lipofuscinosis,"[Batten disease, JNCL, Juvenile NCL, Spielmeyer-Vogt disease]","Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.","[610127, 204200, 600143, 256730, 204500, 609055]",,,,,Spielmeyer-Vogt disease,TRUE,FALSE,Retired +GARD:494,Active,Orphanet,ORPHA:1786,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Catania type",[Opitz-Caltabiano syndrome],"A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males.",[101805],,,,,Acrofacial dysostosis Catania type,TRUE,FALSE,Active +GARD:4940,Active,Orphanet,ORPHA:3176,Disorder,[Malformation syndrome],Spina bifida-hypospadias syndrome,,"Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.",,,,,,Spina bifida hypospadias,TRUE,FALSE,Active +GARD:4942,Active,Orphanet,ORPHA:1217,Disorder,[Disease],Spinal atrophy-ophthalmoplegia-pyramidal syndrome,[Hamano-Tsukamoto syndrome],"Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.",,,,,,Spinal atrophy ophthalmoplegia pyramidal syndrome,TRUE,FALSE,Active +GARD:4943,Legacy,GARD,,,,,,,,,,,,Spinal dysostosis type Anhalt,TRUE,FALSE,Retired +GARD:4945,Active,Orphanet,ORPHA:83418,Subtype of disorder,[Clinical subtype],Proximal spinal muscular atrophy type 2,"[Intermediate spinal muscular atrophy, SMA type 2, SMA type II, SMA-II, SMA2]","A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset between 6 to 18 months of age with progressive, proximal muscle weakness, mild to moderate hypotonia and finger polymyoclonour tremor, with areflexia. Motor milestones are classically limited to independent sitting or standing.",[253550],,,,,Spinal muscular atrophy type 2,TRUE,FALSE,Active +GARD:4947,Active,Orphanet+OMIM,OMIM:616866,Subtype of disorder,[Disease subtype],Spinal muscular atrophy with congenital bone fractures 1,"[Spinal muscular atrophy, type i, with congenital bone fractures]","Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by {5:Knierim et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone Fractures\n\nSee also SMABF2 ({616867}), caused by mutation in the ASCC1 gene ({614215}) on chromosome 10q22.",[616866],[486811],[Prenatal-onset spinal muscular atrophy with congenital bone fractures],[17882],,Spinal muscular atrophy type 1 with congenital bone fractures,TRUE,FALSE,Active +GARD:4948,Legacy,GARD,,,,,,,,,,,,Spine rigid cardiomyopathy,TRUE,FALSE,Retired +GARD:4949,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia autosomal recessive 1,TRUE,FALSE,Retired +GARD:495,Legacy,GARD,,,,,,,,,,,,Acrofacial dysostosis Preis type,TRUE,FALSE,Active +GARD:4950,Active,Orphanet,ORPHA:211017,Disorder,[Disease],Spinocerebellar ataxia type 30,[SCA30],An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.,[613371],,,,,Spinocerebellar ataxia 30,TRUE,FALSE,Active +GARD:4952,Active,Orphanet,ORPHA:95434,Disorder,[Disease],Autosomal recessive cerebellar ataxia-movement disorder syndrome,"[SCAR4, SCASI]","A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.",[607317],,,,,Spinocerebellar ataxia autosomal recessive 4,TRUE,FALSE,Active +GARD:4953,Active,Orphanet,ORPHA:98766,Disorder,[Disease],Spinocerebellar ataxia type 5,[SCA5],An autosomal dominant cerebellar ataxia type III that is characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.,[600224],,,,,Spinocerebellar ataxia 5,TRUE,FALSE,Active +GARD:4954,Active,Orphanet,ORPHA:284332,Disorder,[Disease],Infantile-onset autosomal recessive nonprogressive cerebellar ataxia,"[Autosomal recessive spinocerebellar ataxia type 6, SCAR6]","A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.",[608029],,,,,Spinocerebellar ataxia autosomal recessive 6,TRUE,FALSE,Active +GARD:4955,Active,Orphanet,ORPHA:94147,Disorder,[Disease],Spinocerebellar ataxia type 7,"[Ataxia with pigmentary retinopathy, Cerebellar syndrome-pigmentary maculopathy syndrome, SCA7]","An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.",[164500],,,,,Spinocerebellar ataxia 7,TRUE,FALSE,Active +GARD:4956,Active,Orphanet,ORPHA:98760,Disorder,[Disease],Spinocerebellar ataxia type 8,[SCA8],Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.,[608768],,,,,Spinocerebellar ataxia 8,TRUE,FALSE,Active +GARD:4958,Active,Orphanet,ORPHA:1185,Disorder,[Disease],Spinocerebellar ataxia-dysmorphism syndrome,,"A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.",[271270],,,,,Spinocerebellar ataxia with dysmorphism,TRUE,FALSE,Active +GARD:496,Active,Orphanet,ORPHA:1788,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Rodríguez type",,"A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with olygodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.",[201170],,,,,Acrofacial dysostosis Rodriguez type,TRUE,FALSE,Active +GARD:4961,Legacy,GARD,,,,,,,,,,,,Spinocerebellar degenerescence book type,TRUE,FALSE,Retired +GARD:4963,Active,Orphanet,ORPHA:2063,Disorder,[Malformation syndrome],Splenogonadal fusion-limb defects-micrognathia syndrome,[SGFLD syndrome],"A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.",[183300],,,,,Splenogonadal fusion limb defects micrognatia,TRUE,FALSE,Active +GARD:4965,Legacy,GARD,,,,,,,,,,,,Split hand split foot malformation autosomal recessive,TRUE,FALSE,Active +GARD:4967,Active,Orphanet,ORPHA:2329,Disorder,[Malformation syndrome],Karsch-Neugebauer syndrome,[Split hand/split foot-nystagmus syndrome],"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.",[183800],,,,,Split hand split foot nystagmus,TRUE,FALSE,Active +GARD:4968,Legacy,GARD,,,,,,,,,,,,Split hand/foot malformation X-linked,TRUE,FALSE,Active +GARD:4969,Active,Orphanet,ORPHA:2437,Disorder,[Malformation syndrome],Czeizel-Losonci syndrome,"[Split hand with obstructive uropathy, spina bifida and diaphragmatic defects, Split hand-urinary anomalies-spina bifida syndrome]","Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.",[183802],,,,,Split hand urinary anomalies spina bifida,TRUE,FALSE,Active +GARD:497,Active,Orphanet,ORPHA:952,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Weyers type","[Curry-Hall syndrome, Weyers acrodental dysostosis, Weyers acrofacial dysostosis]","A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.",[193530],,,,,Weyers acrofacial dysostosis,TRUE,FALSE,Active +GARD:4970,Active,Orphanet,ORPHA:93357,Disorder,[Disease],SPONASTRIME dysplasia,"[Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia, Spondyloepimetaphyseal dysplasia, Sponastrime type]","A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.",[271510],,,,,Spondyloepimetaphyseal dysplasia Sponastrime type,TRUE,FALSE,Active +GARD:4971,Legacy,GARD,,,,,,,,,,,,Spondylarthropathy,TRUE,FALSE,Active +GARD:4972,Active,Orphanet,ORPHA:3180,Disorder,[Malformation syndrome],Spondylocamptodactyly syndrome,,"Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.",[600000],,,,,Spondylocamptodactyly,TRUE,FALSE,Active +GARD:4973,Active,Orphanet+OMIM,OMIM:609813,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 3, autosomal recessive",,,[609813],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 3,TRUE,FALSE,Active +GARD:4974,Active,Orphanet,ORPHA:3275,Disorder,[Malformation syndrome],Spondylocarpotarsal synostosis,[Synspondylism],"A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.",[272460],,,,,Spondylocarpotarsal synostosis syndrome,TRUE,FALSE,Active +GARD:4976,Active,Orphanet+OMIM,OMIM:613686,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 4, autosomal recessive",,,[613686],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 4,TRUE,FALSE,Active +GARD:4977,Active,Orphanet+OMIM,OMIM:271630,Subtype of disorder,[Malformation syndrome subtype],"Brachyolmia type 1, toledo type","[sed, chondroitin sulfate type, Spondyloepiphyseal dysplasia tarda, toledo type, paps-chondroitin sulfate sulfotransferase deficiency]","For a phenotypic description and discussion of heterogeneity of brachyolmia, see {271530}.",[271630],[448242],[Autosomal recessive brachyolmia],[13171],,Spondyloepiphyseal dysplasia tarda Toledo type,TRUE,FALSE,Retired +GARD:4978,Active,Orphanet,ORPHA:1855,Disorder,[Malformation syndrome],Spondyloenchondrodysplasia,"[SPENCD, Spondyloenchondromatosis, Spondylometaphyseal dysplasia with enchondromatous changes]","Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.",,,,,,Spondyloenchondrodysplasia with immune dysregulation,TRUE,FALSE,Active +GARD:4979,Active,Orphanet,ORPHA:93349,Disorder,[Disease],X-linked spondyloepimetaphyseal dysplasia,,"A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.",[300106],,,,,Spondyloepimetaphyseal dysplasia X-linked,TRUE,FALSE,Active +GARD:498,Active,Orphanet,ORPHA:245,Disorder,[Malformation syndrome],Nager syndrome,"[Mandibulofacial dysostosis with preaxial limb anomalies, NAFD, Nager acrofacial dysostosis, Preaxial acrodysostosis]","A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.",[154400],,,,,Nager acrofacial dysostosis,TRUE,FALSE,Active +GARD:4980,Active,Orphanet,ORPHA:93352,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Shohat type","[SEMD, Shohat type]","Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.",[602557],,,,,Spondyloepimetaphyseal dysplasia Shohat type,TRUE,FALSE,Active +GARD:4982,Active,Orphanet,ORPHA:93359,Disorder,[Disease],Spondyloepimetaphyseal dysplasia with joint laxity,"[SEMD-JL, SEMDJL1, Spondyloepimetaphyseal dysplasia with joint laxity type 1, Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type]","A rare primary bone dysplasia characterized by short stature, joint laxity, vertebral anomalies, severe progressive spinal malalignment leading to spinal cord compression, progressive kyphoscoliosis, thoracic asymmetry, and elbow and foot deformities. Additional features include mild skin hyperelasticity, spatulate terminal phalanges, cleft palate and lip, structural cardiac malformations, and mild facial dysmorphism (oval face, prominent eyes with blue sclerae, and a long upper lip).","[271640, 618395]",,,,,Spondyloepimetaphyseal dysplasia joint laxity,TRUE,FALSE,Active +GARD:4984,Active,Orphanet,ORPHA:1830,Disorder,[Disease],Schimke immuno-osseous dysplasia,"[Schimke syndrome, Spondyloepiphyseal dysplasia-nephrotic syndrome]","A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy.",[242900],,,,,Schimke immunoosseous dysplasia,TRUE,FALSE,Active +GARD:4985,Active,Orphanet+OMIM,OMIM:313400,Subtype of disorder,[Disease subtype],"Spondyloepiphyseal dysplasia tarda, x-linked","[Sed tarda, x-linked, spondyloepiphyseal dysplasia, late]",,[313400],[93284],[Spondyloepiphyseal dysplasia tarda],[10624],,Spondyloepiphyseal dysplasia tarda X-linked,TRUE,FALSE,Active +GARD:4987,Active,Orphanet,ORPHA:94068,Disorder,[Disease],Spondyloepiphyseal dysplasia congenita,"[Congenital spondyloepiphyseal dysplasia, SEDC, Spranger-Wiedemann disease]","Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.",[183900],,,,,Spondyloepiphyseal dysplasia congenita,TRUE,FALSE,Active +GARD:4988,Legacy,GARD,,,,,,,,,,,,"Spondylohypoplasia, arthrogryposis and popliteal pterygium",TRUE,FALSE,Active +GARD:499,Active,Orphanet,ORPHA:1787,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Palagonia type",,"A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.",[601829],,,,,Acrofacial dysostosis Palagonia type,TRUE,FALSE,Active +GARD:4991,Active,Orphanet,ORPHA:93315,Disorder,[Disease],"Spondylometaphyseal dysplasia, 'corner fracture' type","[Spondylometaphyseal dysplasia, Sutcliffe type]","Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).",[184255],,,,,Spondylometaphyseal dysplasia corner fracture type,TRUE,FALSE,Active +GARD:4992,Legacy,GARD,,,,,,,,,,,,Spondylometaphyseal dysplasia East-African type,TRUE,FALSE,Active +GARD:4993,Active,Orphanet,ORPHA:93317,Disorder,[Malformation syndrome],"Spondylometaphyseal dysplasia, Sedaghatian type",,"Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.",[250220],,,,,Spondylometaphyseal dysplasia Sedaghatian type,TRUE,FALSE,Active +GARD:4994,Active,Orphanet,ORPHA:1856,Disorder,[Disease],Spondyloperipheral dysplasia-short ulna syndrome,,"Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.",[271700],,,,,Spondyloperipheral dysplasia,TRUE,FALSE,Active +GARD:4997,Active,Orphanet,ORPHA:2903,Disorder,[Disease],Familial spontaneous pneumothorax,,"Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.",[173600],,,,,Primary spontaneous pneumothorax,TRUE,FALSE,Active +GARD:4998,Legacy,GARD,,,,,,,,,,,,Spotted fever,TRUE,FALSE,Active +GARD:4999,Legacy,GARD,,,,,,,,,,,,Spranger Schinzel Myers syndrome,TRUE,FALSE,Retired +GARD:5,Active,Orphanet,ORPHA:14,Disorder,[Disease],Abetalipoproteinemia,"[Bassen-Kornzweig disease, Homozygous familial hypobetalipoproteinemia]","A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.","[605019, 200100, 615558]",,,,,Abetalipoproteinemia,TRUE,FALSE,Active +GARD:500,Legacy,GARD,,,,,,,,,,,,"Acromegaloid changes, cutis verticis gyrata and corneal leukoma",TRUE,FALSE,Active +GARD:5000,Legacy,GARD,,,,,,,,,,,,Stalker Chitayat syndrome,TRUE,FALSE,Active +GARD:5001,Legacy,GARD,,,,,,,,,,,,Stampe sorensen syndrome,TRUE,FALSE,Retired +GARD:5003,Active,Orphanet,ORPHA:841,Disorder,[Disease],Sebocystomatosis,[Steatocystoma multiplex],"Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.",[184500],,,,,Steatocystoma multiplex,TRUE,FALSE,Active +GARD:5004,Active,Orphanet,ORPHA:3184,Disorder,[Malformation syndrome],Steatocystoma multiplex-natal teeth syndrome,,The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.,[184510],,,,,Steatocystoma multiplex with natal teeth,TRUE,FALSE,Active +GARD:501,Legacy,GARD,,,,,,,,,,,,Acromegaloid facial appearance syndrome,TRUE,FALSE,Active +GARD:5010,Legacy,GARD,,,,,,,,,,,,Sterility due to immotile flagella,TRUE,FALSE,Retired +GARD:5012,Active,Orphanet,ORPHA:2017,Disorder,[Morphological anomaly],Sternal cleft,"[Cleft sternum, Sternum bifidum]","A rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.",,,,,,Sternal cleft,TRUE,FALSE,Active +GARD:5013,Legacy,GARD,,,,,,,,,,,,Sternal cyst vascular anomalies,TRUE,FALSE,Retired +GARD:5014,Legacy,GARD,,,,,,,,,,,,Sternal malformation vascular dysplasia associatio,TRUE,FALSE,Retired +GARD:5015,Active,Orphanet,ORPHA:3196,Disorder,[Disease],Steroid dehydrogenase deficiency-dental anomalies syndrome,[Lyngstadaas syndrome],"A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.",,,,,,Steroid dehydrogenase deficiency dental anomalies,TRUE,FALSE,Active +GARD:5018,Active,Orphanet,ORPHA:90653,Subtype of disorder,[Clinical subtype],Stickler syndrome type 1,,,"[609508, 108300]",,,,,Stickler syndrome type 1,TRUE,FALSE,Retired +GARD:502,Legacy,GARD,,,,,,,,,,,,Acromegaloid hypertrichosis syndrome,TRUE,FALSE,Active +GARD:5020,Active,Orphanet,ORPHA:90654,Subtype of disorder,[Clinical subtype],Stickler syndrome type 2,,,[604841],,,,,"Stickler syndrome, type 2",TRUE,FALSE,Retired +GARD:5021,Active,Orphanet,ORPHA:166100,Disorder,[Malformation syndrome],Autosomal dominant otospondylomegaepiphyseal dysplasia,"[AD OSMED, Stickler syndrome type 3, Stickler syndrome, non-ocular type]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.",[184840],,,,,"Stickler syndrome, type 3",TRUE,FALSE,Retired +GARD:5023,Active,Orphanet,ORPHA:3198,Disorder,[Disease],Stiff person spectrum disorder,"[Moersch-Woltman syndrome, SMS, SPS, Stiff man syndrome]","A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.",[184850],,,,,Stiff person syndrome,TRUE,FALSE,Active +GARD:5025,Active,Orphanet,ORPHA:2833,Disorder,[Disease],Stiff skin syndrome,,"Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.","[184900, 228020]",,,,,Stiff skin syndrome,TRUE,FALSE,Active +GARD:5026,Active,Orphanet,ORPHA:3199,Disorder,[Malformation syndrome],Stimmler syndrome,,"Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.",[202900],,,,,"Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus",TRUE,FALSE,Active +GARD:5027,Active,Orphanet,ORPHA:2972,Disorder,[Malformation syndrome],Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,[Stoelinga-de Koomen-Davis syndrome],"Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.",[273050],,,,,Stoelinga de Koomen Davis syndrome,TRUE,FALSE,Retired +GARD:5029,Active,Orphanet,ORPHA:3200,Disorder,[Malformation syndrome],Arthrogryposis-ectodermal dysplasia syndrome,[Stoll-Alembik-Finck syndrome],"A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.",[601701],,,,,Stoll Alembik Finck syndrome,TRUE,FALSE,Active +GARD:5032,Legacy,GARD,,,,,,,,,,,,Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia,TRUE,FALSE,Retired +GARD:5033,Legacy,GARD,,,,,,,,,,,,Familial stomach cancer,TRUE,FALSE,Retired +GARD:5034,Active,Orphanet,ORPHA:734,Disorder,[Disease],Alpha delta granule deficiency,"[Alpha dense granule deficiency, Combined alpha-delta platelet storage pool deficiency]","A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia.",[185050],,,,,Platelet storage pool deficiency,TRUE,FALSE,Active +GARD:5035,Legacy,GARD,,,,,,,,,,,,Storm syndrome,TRUE,FALSE,Active +GARD:5036,Active,Orphanet,ORPHA:1277,Disorder,[Malformation syndrome],Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,[Stratton-Garcia-Young syndrome],"Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).",,,,,,Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,TRUE,FALSE,Active +GARD:504,Active,Orphanet,ORPHA:93316,Disorder,[Disease],"Spondylometaphyseal dysplasia, Schmidt type","[Spondylometaphyseal dysplasia with severe genu valgum, Spondylometaphyseal dysplasia, Algerian type]","Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.",[184253],,,,,Spondylometaphyseal dysplasia Algerian type,TRUE,FALSE,Active +GARD:5040,Active,Orphanet,ORPHA:1576,Group of disorders,[Clinical group],Infantile bilateral striatal necrosis,"[IBSN, Infantile striatonigral degeneration, Infantile striatonigral necrosis]","Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms).","[271930, 500003]",,,,,Striatonigral degeneration infantile,TRUE,FALSE,Active +GARD:5041,Active,Orphanet,ORPHA:100984,Disorder,[Disease],Autosomal dominant spastic paraplegia type 3,[Strümpell disease],"A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures.",[182600],,,,,Spastic paraplegia 3,TRUE,FALSE,Active +GARD:5045,Active,Orphanet,ORPHA:3206,Disorder,[Malformation syndrome],Stüve-Wiedemann syndrome,"[Neonatal Schwartz-Jampel syndrome, SJS2, Schwartz-Jampel syndrome type 2, Stüve-Wiedemann dysplasia]","Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.",[601559],,,,,Stuve-Wiedemann syndrome,TRUE,FALSE,Active +GARD:5049,Active,Orphanet,ORPHA:102009,Group of disorders,[Clinical group],Classic lissencephaly,[Lissencephaly type 1],,,,,,,Lissencephaly 1,TRUE,FALSE,Active +GARD:505,Legacy,GARD,,,,,,,,,,,,Acromesomelic dysplasia Campailla Martinelli type,TRUE,FALSE,Active +GARD:5050,Active,Orphanet,ORPHA:101030,Subtype of disorder,[Clinical subtype],Subependymal nodular heterotopia,,,,,,,,Subependymal nodular heterotopia,TRUE,FALSE,Active +GARD:5051,Active,Orphanet,ORPHA:3190,Subtype of disorder,[Clinical subtype],Subpulmonary stenosis,,,,,,,,Subpulmonary stenosis,TRUE,FALSE,Active +GARD:5052,Legacy,GARD,,,,,,,,,,,,Subvalvular aortic stenosis,TRUE,FALSE,Active +GARD:5053,Active,Orphanet,ORPHA:3208,Disorder,[Disease],Isolated succinate-CoQ reductase deficiency,"[Isolated mitochondrial respiratory chain complex II deficiency, Isolated succinate dehydrogenase deficiency, Isolated succinate-coenzyme Q reductase deficiency, Isolated succinate-ubiquinone reductase deficiency]","A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity.","[252011, 619166, 619224, 619167]",,,,,Mitochondrial complex II deficiency,TRUE,FALSE,Active +GARD:5054,Legacy,GARD,,,,,,,,,,,,Succinic acidemia,TRUE,FALSE,Retired +GARD:5055,Legacy,GARD,,,,,,,,,,,,Succinic acidemia lactic acidosis congenital,TRUE,FALSE,Retired +GARD:5058,Active,Orphanet,ORPHA:498602,Disorder,[Morphological anomaly],Sugarman brachydactyly,[Sugarman-Hager-Kulik syndrome],"Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.",[272150],,,,,Sugarman brachydactyly,TRUE,FALSE,Active +GARD:506,Active,Orphanet,ORPHA:968,Disorder,[Malformation syndrome],"Acromesomelic dysplasia, Hunter-Thompson type",[Acromesomelic dwarfism],"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.",[201250],,,,,Acromesomelic dysplasia Hunter Thompson type,TRUE,FALSE,Active +GARD:5061,Active,Orphanet,ORPHA:585,Disorder,[Disease],Multiple sulfatase deficiency,"[Juvenile sulfatidosis, Austin type, MSD, Mucosulfatidosis]","Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.",[272200],,,,,Multiple sulfatase deficiency,TRUE,FALSE,Active +GARD:5062,Active,Orphanet,ORPHA:99731,Subtype of disorder,[Clinical subtype],Isolated sulfite oxidase deficiency,"[ISOD, Sulfocysteinuria]",,[272300],,,,,Sulfite oxidase deficiency,TRUE,FALSE,Active +GARD:5066,Active,Orphanet,ORPHA:85275,Disorder,[Malformation syndrome],Microphthalmia-ankyloblepharon-intellectual disability syndrome,"[MCOPS4, Syndromic microphthalmia type 4]","Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.",,,,,,Microphthalmia syndromic 4,TRUE,FALSE,Active +GARD:5068,Active,Orphanet,ORPHA:242,Disorder,[Malformation syndrome],"46,XY complete gonadal dysgenesis","[46,XY CGD, 46,XY pure gonadal dysgenesis, Swyer syndrome]","A rare disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.","[300018, 612965, 400044, 233420, 616425, 154230, 613080, 613762]",,,,,Swyer syndrome,TRUE,FALSE,Active +GARD:5069,Legacy,GARD,,,,,,,,,,,,Palmoplantar keratoderma of Sybert,TRUE,FALSE,Retired +GARD:507,Active,Orphanet,ORPHA:40,Disorder,[Malformation syndrome],"Acromesomelic dysplasia, Maroteaux type",,"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .",[602875],,,,,Acromesomelic dysplasia Maroteaux type,TRUE,FALSE,Active +GARD:5070,Active,Orphanet,ORPHA:1314,Disorder,[Disease],Symmetrical thalamic calcifications,[Bilateral symmetrical thalamic gliosis],"Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.",,,,,,Symmetrical thalamic calcifications,TRUE,FALSE,Active +GARD:5072,Legacy,GARD,,,,,,,,,,,,Symphalangism brachydactyly craniosynostosis,TRUE,FALSE,Retired +GARD:5074,Active,Orphanet,ORPHA:3248,Disorder,[Morphological anomaly],Distal symphalangism,,Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.,[185700],,,,,Symphalangism distal,TRUE,FALSE,Active +GARD:5075,Legacy,GARD,,,,,,,,,,,,Symphalangism familial proximal,FALSE,FALSE,Retired +GARD:5076,Legacy,GARD,,,,,,,,,,,,Symphalangism short stature accessory testis,TRUE,FALSE,Retired +GARD:5077,Active,Orphanet,ORPHA:3246,Disorder,[Malformation syndrome],Symphalangism with multiple anomalies of hands and feet,[Learman syndrome],"Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.",[185750],,,,,Symphalangism with multiple anomalies of hands and feet,TRUE,FALSE,Active +GARD:5078,Legacy,GARD,,,,,,,,,,,,Syncamptodactyly scoliosis,TRUE,FALSE,Retired +GARD:508,Active,Orphanet,ORPHA:955,Disorder,[Malformation syndrome],Hajdu-Cheney syndrome,"[Acroosteolysis dominant type, Acroosteolysis with osteoporosis and changes in skull and mandible, Arthrodentoosteodysplasia, Cheney syndrome]","A rare autosomal dominant skeletal disorder, characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities.","[102400, 102500]",,,,,Acroosteolysis dominant type,TRUE,FALSE,Active +GARD:5081,Active,Orphanet,ORPHA:93402,Disorder,[Morphological anomaly],Syndactyly type 1,,"A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges.","[185900, 609815]",,,,,Syndactyly type 1,TRUE,FALSE,Active +GARD:5083,Legacy,GARD,,,,,,,,,,,,Syndactyly cataract mental retardation,TRUE,FALSE,Retired +GARD:5084,Active,Orphanet,ORPHA:3258,Disorder,[Malformation syndrome],Cenani-Lenz syndrome,"[Cenani syndactyly, Cenani-Lenz syndactyly, Syndactyly type 7]",Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.,[212780],,,,,Syndactyly Cenani Lenz type,TRUE,FALSE,Active +GARD:5085,Legacy,GARD,,,,,,,,,,,,Syndactyly ectodermal dysplasia cleft lip palate hand foot,TRUE,FALSE,Active +GARD:5087,Active,Orphanet,ORPHA:93403,Disorder,[Morphological anomaly],Syndactyly type 2,[Synpolydactyly],"A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly.","[610234, 608180, 186000]",,,,,Syndactyly type 2,TRUE,FALSE,Active +GARD:5088,Active,Orphanet,ORPHA:93404,Disorder,[Morphological anomaly],Syndactyly type 3,"[SD3, Syndactyly of fingers 4 and 5]","A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected.",[186100],,,,,Syndactyly type 3,TRUE,FALSE,Active +GARD:5089,Active,Orphanet,ORPHA:93406,Disorder,[Morphological anomaly],Syndactyly type 5,"[Postaxial syndactyly with metacarpal synostosis, SD5]","A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported.",[186300],,,,,Syndactyly type 5,TRUE,FALSE,Active +GARD:5090,Active,Orphanet,ORPHA:3259,Disorder,[Malformation syndrome],Syndactyly-polydactyly-ear lobe syndrome,,"A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.",[186350],,,,,Syndactyly-polydactyly-earlobe syndrome,TRUE,FALSE,Active +GARD:5091,Active,Orphanet,ORPHA:3263,Disorder,[Malformation syndrome],Syngnathia-cleft palate syndrome,,,,,,,,Syngnathia cleft palate,TRUE,FALSE,Active +GARD:5092,Active,Orphanet,ORPHA:3262,Disorder,[Malformation syndrome],Dobrow syndrome,[Syngnathia-multiple anomalies syndrome],"Dobrow syndrome is a rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.",,,,,,Syngnathia multiple anomalies,TRUE,FALSE,Active +GARD:5094,Legacy,GARD,,,,,,,,,,,,Synostosis of talus and calcaneus short stature,TRUE,FALSE,Active +GARD:5100,Active,Orphanet,ORPHA:840,Disorder,[Disease],Syringocystadenoma papilliferum,"[Fistulous vegetative verrucous hydradenoma, Naevus syringocystadenomatosus papilliferus, Papillary syringocystadenoma, SCAP, Syringadenoma papilliferum]","A rare non-malignant adnexal neoplasm that originates from the apocrine or eccrine sweat glands and is characterized histologically by cystic, papillary, and ductal invaginations into the dermis lined by double-layered outer cuboidal and luminal high columnar epithelium and connected to the epidermis. Dilated capillaries and a dense infiltrate of plasma cells are characteristic. Clinically, lesions are asymptomatic with a heterogeneous, non-distinctive appearance ranging from skin-colored to pink papules or plaques, occurring most commonly in the head and neck area.",,,,,,Syringocystadenoma papilliferum,TRUE,FALSE,Active +GARD:5101,Legacy,GARD,,,,,,,,,,,,Syringomas natal teeth oligodontia,TRUE,FALSE,Retired +GARD:5102,Legacy,GARD,,,,,,,,,,,,Syringomelia hyperkeratosis,TRUE,FALSE,Retired +GARD:5104,Active,Orphanet,ORPHA:158,Disorder,[Disease],Systemic primary carnitine deficiency,"[CDSP, CUD, Carnitine transporter defect, Carnitine uptake deficiency, Deficiency of plasma-membrane carnitine transporter, SPCD]","A disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.",[212140],,,,,Primary carnitine deficiency,TRUE,FALSE,Active +GARD:5106,Legacy,GARD,,,,,,,,,,,,Systemic necrotizing angitis,TRUE,FALSE,Active +GARD:5107,Legacy,GARD,,,,,,,,,,,,T cell immunodeficiency primary,TRUE,FALSE,Active +GARD:5108,Legacy,GARD,,,,,,,,,,,,T-cell lymphoma 1A,TRUE,FALSE,Active +GARD:5109,Legacy,GARD,,,,,,,,,,,,Berk-Tabatznik syndrome,TRUE,FALSE,Active +GARD:511,Legacy,GARD,,,,,,,,,,,,Acro-pectoro-renal field defect,TRUE,FALSE,Active +GARD:5112,Legacy,GARD,,,,,,,,,,,,Talipes equinovarus,FALSE,FALSE,Active +GARD:5114,Legacy,GARD,,,,,,,,,,,,Tang Hsi Ryu syndrome,TRUE,FALSE,Active +GARD:5116,Active,Orphanet,ORPHA:3320,Disorder,[Malformation syndrome],Thrombocytopenia-absent radius syndrome,[TAR syndrome],Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.,[274000],,,,,TAR syndrome,TRUE,FALSE,Active +GARD:5117,Legacy,GARD,,,,,,,,,,,,TAU syndrome,TRUE,FALSE,Active +GARD:5118,Legacy,GARD,,,,,,,,,,,,"Taurodontia, absent teeth, sparse hair syndrome",TRUE,FALSE,Active +GARD:5119,Legacy,GARD,,,,,,,,,,,,Taurodontism,TRUE,FALSE,Active +GARD:512,Active,Orphanet,ORPHA:957,Disorder,[Malformation syndrome],Acropectorovertebral dysplasia,[F syndrome],"A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).",[102510],,,,,Acropectorovertebral dysplasia F form,TRUE,FALSE,Active +GARD:5120,Active,Orphanet,ORPHA:2636,Disorder,[Malformation syndrome],Microcephalic osteodysplastic primordial dwarfism types I and III,"[MOPD types I and III, Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type, Primordial microcephalic dwarfism, Crachami type, Taybi-Linder syndrome]","A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies.","[210730, 210710]",,,,,Microcephalic osteodysplastic primordial dwarfism type 1,TRUE,FALSE,Active +GARD:5121,Active,Orphanet,ORPHA:90650,Disorder,[Malformation syndrome],Otopalatodigital syndrome type 1,"[OPD I syndrome, OPD syndrome 1, Taybi syndrome]","A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.",[311300],,,,,Oto-palato-digital syndrome type 1,TRUE,FALSE,Active +GARD:5123,Active,Orphanet,ORPHA:1094,Disorder,[Malformation syndrome],Anonychia-microcephaly syndrome,[Teebi-Kaurah syndrome],"A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.",[607214],,,,,Teebi Kaurah syndrome,TRUE,FALSE,Retired +GARD:5124,Active,Orphanet,ORPHA:1974,Disorder,[Malformation syndrome],Autosomal recessive faciodigitogenital syndrome,"[Aarskog-like syndrome, Facio-digito-genital syndrome, Kuwait type, Teebi-Naguib-Alawadi syndrome]","A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.",[227330],,,,,Teebi Naguib Al Awadi syndrome,TRUE,FALSE,Retired +GARD:5125,Active,Orphanet,ORPHA:3291,Disorder,[Malformation syndrome],Teebi-Shaltout syndrome,,"Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.",[272950],,,,,Teebi Shaltout syndrome,TRUE,FALSE,Active +GARD:5126,Active,Orphanet,ORPHA:3368,Disorder,[Malformation syndrome],Trigonocephaly-bifid nose-acral anomalies syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.",[275595],,,,,"Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet",TRUE,FALSE,Active +GARD:5127,Legacy,GARD,,,,,,,,,,,,Teeth noneruption of with maxillary hypoplasia and genu valgum,TRUE,FALSE,Retired +GARD:5128,Active,Orphanet,ORPHA:3292,Disorder,[Malformation syndrome],Tel Hashomer camptodactyly syndrome,[Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome],"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.",[211960],,,,,Tel Hashomer camptodactyly syndrome,TRUE,FALSE,Active +GARD:5133,Active,Orphanet,ORPHA:2885,Disorder,[Malformation syndrome],Piebald trait-neurologic defects syndrome,[Telfer-Sugar-Jaeger syndrome],"Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.",[172850],,,,,Telfer Sugar Jaeger syndrome,TRUE,FALSE,Active +GARD:5135,Active,Orphanet,ORPHA:98819,Disorder,[Disease],Familial temporal lobe epilepsy,,"A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.","[608096, 611631]",,,,,"Temporal epilepsy, familial",TRUE,FALSE,Active +GARD:5136,Legacy,GARD,,,,,,,,,,,,Temporomandibular ankylosis,TRUE,FALSE,Active +GARD:5138,Active,Orphanet,ORPHA:137834,Disorder,[Disease],Frank-Ter Haar syndrome,[Ter Haar syndrome],"A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.",[249420],,,,,Frank Ter Haar syndrome,TRUE,FALSE,Active +GARD:514,Active,Orphanet,ORPHA:971,Disorder,[Malformation syndrome],Acrorenal syndrome,,"A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.","[201310, 102520]",,,,,Acrorenal syndrome recessive,TRUE,FALSE,Active +GARD:5140,Active,Orphanet,ORPHA:180226,Disorder,[Disease],Embryonal carcinoma,,,,,,,,Embryonal carcinoma,TRUE,FALSE,Active +GARD:5144,Active,Orphanet,ORPHA:3299,Disorder,[Disease],Tetanus,,"A toxin-mediated infection due to the anaerobic bacteria Clostridium tetani and characterized by spasms and contractions of the skeletal muscles, the disease is often lethal.",,,,,,Tetanus,TRUE,FALSE,Active +GARD:5146,Legacy,GARD,,,,,,,,,,,,Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities,TRUE,FALSE,Retired +GARD:5147,Legacy,GARD,,,,,,,,,,,,Tetraamelia with pulmonary hypoplasia,TRUE,FALSE,Active +GARD:5148,Active,Orphanet,ORPHA:294971,Disorder,[Morphological anomaly],Tetra-amelia,[Total amelia],"A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.",,,,,,Tetra-amelia syndrome,TRUE,FALSE,Active +GARD:5151,Active,Orphanet,ORPHA:3305,Disorder,[Malformation syndrome],Tetraploidy,,"Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine growth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.",,,,,,Tetraploidy,TRUE,FALSE,Active +GARD:5153,Active,Orphanet,ORPHA:3306,Disorder,[Malformation syndrome],Inverted duplicated chromosome 15 syndrome,"[Duplication/inversion 15q11, Inv dup (15) syndrome, Isodicentric chromosome 15 syndrome, Non-distal tetrasomy 15q, Non-telomeric tetrasomy 15q, idic (15) syndrome]","A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.",,,,,,Isodicentric chromosome 15 syndrome,TRUE,FALSE,Active +GARD:5158,Active,Orphanet,ORPHA:1780,Disorder,[Malformation syndrome],Thakker-Donnai syndrome,[Dysmorphism-multiple structural anomalies syndrome],"Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991.",[227255],,,,,Thakker-Donnai syndrome,TRUE,FALSE,Active +GARD:5159,Legacy,GARD,,,,,,,,,,,,Thalamic degeneration symmetrical infantile,TRUE,FALSE,Retired +GARD:5160,Legacy,GARD,,,,,,,,,,,,"Thalamic degeneration, symmetric infantile",TRUE,FALSE,Retired +GARD:5161,Legacy,GARD,,,,,,,,,,,,Central pain syndrome,TRUE,FALSE,Active +GARD:5165,Legacy,GARD,,,,,,,,,,,,Thanatophoric dysplasia Glasgow variant,TRUE,FALSE,Retired +GARD:5167,Legacy,GARD,,,,,,,,,,,,Theodor Hertz Goodman syndrome,TRUE,FALSE,Active +GARD:5168,Legacy,GARD,,,,,,,,,,,,Coccygodynia,TRUE,FALSE,Active +GARD:517,Legacy,GARD,,,,,,,,,,,,Fetal retinoid syndrome,TRUE,FALSE,Active +GARD:5170,Active,Orphanet,ORPHA:3235,Disorder,[Malformation syndrome],Progressive deafness with stapes fixation,"[Progressive hearing loss with stapes fixation, Stapedo-vestibular ankylosis, Thies-Reis syndrome]","Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).",[601449],,,,,Progressive deafness with stapes fixation,TRUE,FALSE,Active +GARD:5172,Legacy,GARD,,,,,,,,,,,,Thiolase deficiency,TRUE,FALSE,Retired +GARD:5173,Legacy,GARD,,,,,,,,,,,,Thiopurine S methyltranferase deficiency,TRUE,FALSE,Active +GARD:5175,Active,Orphanet,ORPHA:3316,Disorder,[Malformation syndrome],Thomas syndrome,[Potter sequence-cleft lip/palate-cardiopathy syndrome],"Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.",,,,,,Thomas syndrome,TRUE,FALSE,Active +GARD:5176,Active,Orphanet,ORPHA:852,Subtype of disorder,[Etiological subtype],X-linked thrombocytopenia with normal platelets,,,[313900],,,,,X-linked thrombocytopenia,TRUE,FALSE,Active +GARD:5177,Active,Orphanet,ORPHA:2031,Disorder,[Malformation syndrome],Hepatic fibrosis-renal cysts-intellectual disability syndrome,[Thompson-Baraitser syndrome],"Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.",[213010],,,,,Thompson Baraitser syndrome,TRUE,FALSE,Retired +GARD:5179,Legacy,GARD,,,,,,,,,,,,Thoracic celosomia,TRUE,FALSE,Retired +GARD:518,Legacy,GARD,,,,,,,,,,,,Acute articular rheumatism,TRUE,FALSE,Active +GARD:5180,Active,Orphanet,ORPHA:1861,Disorder,[Malformation syndrome],Thoracic dysplasia-hydrocephalus syndrome,,"Thoracic dysplasia-hydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.",[273730],,,,,Thoracic dysplasia hydrocephalus syndrome,TRUE,FALSE,Active +GARD:5181,Active,Orphanet,ORPHA:1759,Disorder,[Malformation syndrome],Thoraco-abdominal enteric duplication,,"Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.",,,,,,Thoraco abdominal enteric duplication,TRUE,FALSE,Active +GARD:5182,Legacy,GARD,,,,,,,,,,,,Thoraco limb dysplasia Rivera type,TRUE,FALSE,Retired +GARD:5184,Active,Orphanet,ORPHA:3317,Disorder,[Malformation syndrome],Thoracolaryngopelvic dysplasia,[Barnes syndrome],"Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.","[187770, 187760]",,,,,Thoracolaryngopelvic dysplasia,TRUE,FALSE,Active +GARD:5185,Legacy,GARD,,,,,,,,,,,,Thoracopelvic dysostosis,TRUE,FALSE,Active +GARD:5186,Active,Orphanet,ORPHA:530838,Disorder,[Disease],KRT1-related diffuse nonepidermolytic keratoderma,[KRT1-related diffuse NEPPK],"A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.",[600962],,,,,Unna-Thost palmoplantar keratoderma,TRUE,FALSE,Active +GARD:5188,Active,Orphanet,ORPHA:3204,Disorder,[Disease],Stormorken-Sjaastad-Langslet syndrome,"[Stormorken syndrome, Thrombocytopathy-asplenia-miosis syndrome]","Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.",[185070],,,,,Thrombocytopathy asplenia miosis,TRUE,FALSE,Active +GARD:519,Active,Orphanet,ORPHA:724,Disorder,[Disease],Idiopathic acute eosinophilic pneumonia,[IAEP],"Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.",,,,,,Idiopathic acute eosinophilic pneumonia,TRUE,FALSE,Active +GARD:5190,Legacy,GARD,,,,,,,,,,,,Thrombocytopenia cerebellar hypoplasia short stature,TRUE,FALSE,Retired +GARD:5191,Active,Orphanet+OMIM,OMIM:188000,Subtype of disorder,[Etiological subtype],Thrombocytopenia 2,"[Thrombocytopenia, autosomal dominant, 2]","Thrombocytopenia-2 (THC2) is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by {19:Pippucci et al., 2011}).\n\nFor a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.",[188000],[168629],[Autosomal thrombocytopenia with normal platelets],[17041],,Thrombocytopenia 2,TRUE,FALSE,Active +GARD:5193,Legacy,GARD,,,,,,,,,,,,Thrombocytopenia Robin sequence,TRUE,FALSE,Active +GARD:5194,Active,Orphanet,ORPHA:3002,Disorder,[Disease],Immune thrombocytopenia,"[ITP, Immune thrombocytopenic purpura]","A rare autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.",[188030],,,,,Idiopathic thrombocytopenic purpura,TRUE,FALSE,Active +GARD:5195,Active,Orphanet,ORPHA:3324,Disorder,[Disease],Familial thrombomodulin anomalies,,"Familial thrombomodulin anomalies is a rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.",,,,,,"Thrombomodulin anomalies, familial",TRUE,FALSE,Active +GARD:5198,Legacy,GARD,,,,,,,,,,,,Thumb absent short stature immune deficiency,TRUE,FALSE,Retired +GARD:5199,Active,Orphanet,ORPHA:2251,Disorder,[Malformation syndrome],Thumb deformity-alopecia-pigmentation anomaly syndrome,[Sparse hair-short stature-skin anomalies syndrome],"Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.",[188150],,,,,"Thumb deformity, alopecia, pigmentation anomaly",TRUE,FALSE,Active +GARD:520,Legacy,GARD,,,,,,,,,,,,Acute erythroblastic leukemia,TRUE,FALSE,Retired +GARD:5200,Legacy,GARD,,,,,,,,,,,,Thumb stiffness-brachydactyly-intellectual disability syndrome,TRUE,FALSE,Active +GARD:5201,Active,Orphanet,ORPHA:3398,Group of disorders,[Category],Thymic epithelial neoplasm,"[TEN, Thymic epithelial tumor]","Thymic epithelial neoplasms (TEN) are rare malignancies arising from the epithelium of the thymic gland. They comprise three sub-types: thymoma, thymic carcinoma, and thymic neuroendocrine carcinoma (see these terms).",,,,,,Thymic epithelial tumor,TRUE,FALSE,Active +GARD:5202,Active,Orphanet,ORPHA:3326,Disorder,[Malformation syndrome],Thymic-renal-anal-lung dysplasia,,"This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.",[274265],,,,,Thymic-Renal-Anal-Lung dysplasia,TRUE,FALSE,Active +GARD:5203,Legacy,GARD,,,,,,,,,,,,Thyrocerebral-retinal syndrome,TRUE,FALSE,Active +GARD:5204,Active,Orphanet,ORPHA:93953,Disorder,[Morphological anomaly],Familial thyroglossal duct cyst,,A very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.,[188455],,,,,Familial thyroglossal duct cyst,TRUE,FALSE,Active +GARD:5206,Active,Orphanet+OMIM,OMIM:188470,Subtype of disorder,[Disease subtype],"Thyroid cancer, nonmedullary, 2",,"Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; {155240}). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell ({607464}), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, {175100}, Carney complex, {160980}) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by {3:Vriens et al., 2009}).\n\nFollicular thyroid cancer (FTC) accounts for approximately 15% of NMTC and is defined by invasive features that result in infiltration of blood vessels and/or full penetration of the tumor capsule, in the absence of the nuclear alterations that characterize papillary carcinoma. FTC is rarely multifocal and usually does not metastasize to the regional lymph nodes but tends to spread via the bloodstream to the lung and bones. An important histologic variant of FTC is the oncocytic (Hurthle cell, oxyphilic) follicular carcinoma composed of eosinophilic cells replete with mitochondria (summary by {1:Bonora et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550}).",[188470],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,"Thyroid cancer, follicular",TRUE,FALSE,Active +GARD:521,Active,Orphanet,ORPHA:3243,Disorder,[Disease],Sweet syndrome,[Acute febrile neutrophilic dermatosis],"A rare inflammatory disease characterized by abrupt appearance of painful, edematous and erythematous papules, plaques and nodules on the skin, and frequently accompanied by fever and neutrophilia with a dense infiltration of mature neutrophils that are typically located in the upper dermis. The disease is classically associated with inflammatory disease, pregnancy, infection (mostly of the upper respiratory tract), or vaccination but may be idiopathic, associated with a hematological or visceral malignancy, or drug-induced.",[608068],,,,,Acute febrile neutrophilic dermatosis,TRUE,FALSE,Active +GARD:5210,Active,Orphanet,ORPHA:3328,Disorder,[Malformation syndrome],Absent tibia-polydactyly-arachnoid cyst syndrome,[Holmes-Collins syndrome],"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.",[601027],,,,,Tibia absent polydactyly arachnoid cyst,TRUE,FALSE,Active +GARD:5211,Legacy,GARD,,,,,,,,,,,,Tibiae bowed radial anomalies osteopenia fracture,TRUE,FALSE,Retired +GARD:5213,Legacy,GARD,,,,,,,,,,,,Tibial aplasia ectrodactyly hydrocephalus,TRUE,FALSE,Retired +GARD:5214,Legacy,GARD,,,,,,,,,,,,Tibial hemimelia cleft lip palate,TRUE,FALSE,Retired +GARD:5216,Active,Orphanet,ORPHA:297,Disorder,[Disease],Tick-borne encephalitis,[TBE],"Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.",,,,,,Tick-borne encephalitis,TRUE,FALSE,Active +GARD:5218,Legacy,GARD,,,,,,,,,,,,Tollner Horst Manzke syndrome,TRUE,FALSE,Active +GARD:522,Active,Orphanet,ORPHA:513,Group of disorders,[Clinical group],Acute lymphoblastic leukemia,"[ALL, Acute lymphoblastic leukemia/lymphoma, Acute lymphocytic leukemia, Precursor lymphoid neoplasm]",A rare disease characterized by malignant proliferation of lymphoid cells blocked at an early stage of differentiation and accounts for 75% of all cases of childhood leukaemia.,"[613067, 247640, 613065]",,,,,Acute lymphoblastic leukemia,TRUE,FALSE,Active +GARD:5221,Active,Orphanet,ORPHA:640,Disorder,[Malformation syndrome],Hereditary neuropathy with liability to pressure palsies,"[Current pressure-sensitive neuropathy, HNPP, Heterozygous microdeletion 17p11.2p12, Potato-grubbing palsy, Tomaculous neuropathy, Tulip-bulb digger's palsy]",A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people.,[162500],,,,,Hereditary neuropathy with liability to pressure palsies,TRUE,FALSE,Active +GARD:5222,Legacy,GARD,,,,,,,,,,,,Tome Brunet Fardeau syndrome,TRUE,FALSE,Retired +GARD:5223,Legacy,GARD,,,,,,,,,,,,Toni Debre Fanconi syndrome,TRUE,FALSE,Retired +GARD:5225,Active,Orphanet,ORPHA:3338,Disorder,[Malformation syndrome],Toriello-Carey syndrome,[Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome],"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.",[217980],,,,,Toriello-Carey syndrome,TRUE,FALSE,Active +GARD:523,Legacy,GARD,,,,,,,,,,,,Acute lymphoblastic leukemia congenital sporadic aniridia,TRUE,FALSE,Active +GARD:5230,Active,Orphanet,ORPHA:3341,Disorder,[Malformation syndrome],Torticollis-keloids-cryptorchidism-renal dysplasia syndrome,,"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.",[314300],,,,,Torticollis keloids cryptorchidism renal dysplasia,TRUE,FALSE,Active +GARD:5231,Active,Orphanet,ORPHA:293165,Disorder,[Disease],Skin fragility-woolly hair-palmoplantar keratoderma syndrome,[Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome],"Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.",[607655],,,,,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,TRUE,FALSE,Active +GARD:5232,Active,Orphanet,ORPHA:3344,Disorder,[Malformation syndrome],Weismann-Netter syndrome,"[Anterior bowing of legs with dwarfism, WNS, Weismann-Netter-Stuhl syndrome]","Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.",[112350],,,,,"Bowing of legs, anterior with dwarfism",TRUE,FALSE,Active +GARD:5233,Active,Orphanet,ORPHA:3346,Disorder,[Morphological anomaly],Tracheal agenesis,,"Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.",,,,,,Tracheal agenesis,TRUE,FALSE,Active +GARD:5234,Legacy,GARD,,,,,,,,,,,,Tracheobronchomegaly,TRUE,FALSE,Active +GARD:5235,Active,Orphanet,ORPHA:3348,Disorder,[Disease],Tracheobronchopathia osteochondroplastica,[Tracheopathia osteoplastica],"A rare idiopathic, benign respiratory disease characterized by submucosal cartilaginous and/or bony nodules presenting in the trachea with or without the involvement of the major bronchi; involvement is potentially anywhere along the anterior and lateral walls of the tracheobronchial tree with sparing the posterior walls.",[189961],,,,,Tracheobronchopathia osteoplastica,TRUE,FALSE,Active +GARD:5236,Legacy,GARD,,,,,,,,,,,,Tracheoesophageal fistula symphalangism,TRUE,FALSE,Retired +GARD:5237,Active,Orphanet,ORPHA:293864,Disorder,[Malformation syndrome],Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,,"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.",[615710],,,,,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,TRUE,FALSE,Active +GARD:5238,Active,Orphanet,ORPHA:3052,Disorder,[Disease],X-linked intellectual disability-seizures-psoriasis syndrome,[Tranebjaerg-Svejgaard syndrome],"A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.",[309480],,,,,Tranebjaerg Svejgaard syndrome,TRUE,FALSE,Active +GARD:5239,Legacy,GARD,,,,,,,,,,,,Transcobalamin 1 deficiency,TRUE,FALSE,Active +GARD:524,Active,Orphanet,ORPHA:518,Disorder,[Disease],Acute megakaryoblastic leukemia,"[AMKL, AML M7, Acute megakaryocytic leukemia, Acute myeloid leukemia M7]","A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.",,,,,,Acute megakaryoblastic leukemia,TRUE,FALSE,Active +GARD:5240,Legacy,GARD,,,,,,,,,,,,Transient neonatal arthrogryposis,TRUE,FALSE,Retired +GARD:5242,Legacy,GARD,,,,,,,,,,,,Transverse limb deficiency hemangioma,TRUE,FALSE,Retired +GARD:5243,Active,Orphanet,ORPHA:1215,Disorder,[Disease],Autosomal dominant optic atrophy plus syndrome,"[DOA+, Optic atrophy-deafness-polyneuropathy-myopathy syndrome, Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome]","A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.","[125250, 165199, 616648]",,,,,Autosomal dominant optic atrophy plus syndrome,TRUE,FALSE,Active +GARD:5244,Legacy,GARD,,,,,,,,,,,,"Tremor hereditary essential, 1",TRUE,FALSE,Active +GARD:525,Active,Orphanet,ORPHA:514,Disorder,[Disease],Acute monoblastic/monocytic leukemia,"[AML M5, Acute monoblastic or monocytic leukemia]","A form of acute myeloid leukemia that is either comprised of more than 80% of monoblasts or 30-80% monoblasts with (pro)monocytic differentiation. It presents with asthenia, pallor, fever, and dizziness. Specific features include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed is t(9;11).",,,,,,Acute monoblastic leukemia,TRUE,FALSE,Active +GARD:5250,Active,Orphanet,ORPHA:863,Disorder,[Disease],Trichinellosis,[Trichinosis],"Trichinellosis is a zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.",,,,,,Trichinosis,TRUE,FALSE,Active +GARD:5252,Legacy,GARD,,,,,,,,,,,,Tricho-dento-osseous syndrome 1,TRUE,FALSE,Retired +GARD:5253,Legacy,GARD,,,,,,,,,,,,Tricho odonto onycho dermal syndrome,TRUE,FALSE,Retired +GARD:5254,Legacy,GARD,,,,,,,,,,,,Tricho odonto onychodysplasia syndactyly dominant type,TRUE,FALSE,Retired +GARD:5255,Legacy,GARD,,,,,,,,,,,,Tricho onychotic dysplasia,TRUE,FALSE,Retired +GARD:5256,Legacy,GARD,,,,,,,,,,,,Tricho onycho hypohidrotic dysplasia,TRUE,FALSE,Retired +GARD:5257,Legacy,GARD,,,,,,,,,,,,Tricho retino dento digital syndrome,TRUE,FALSE,Retired +GARD:5258,Active,Orphanet,ORPHA:84064,Disorder,[Disease],Syndromic diarrhea,"[Phenotypic diarrhea, SD/THE, Syndromic diarrhea/Tricho-hepato-enteric syndrome, Tricho-hepato-enteric syndrome, Trichohepatoenteric syndrome]","A rare gastroenterologic disease manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.","[614602, 222470]",,,,,Trichohepatoenteric syndrome,TRUE,FALSE,Active +GARD:526,Active,Orphanet,ORPHA:98833,Disorder,[Disease],Acute myeloblastic leukemia without maturation,"[AML M1, Acute myeloblastic leukemia M1]","A rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.",,,,,,Acute myeloblastic leukemia without maturation,TRUE,FALSE,Active +GARD:5261,Active,Orphanet,ORPHA:3361,Disorder,[Malformation syndrome],Trichodysplasia-xeroderma syndrome,,"Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.",[190360],,,,,Trichodysplasia xeroderma,TRUE,FALSE,Active +GARD:5262,Legacy,GARD,,,,,,,,,,,,Multiple familial trichoepithelioma 1,TRUE,FALSE,Retired +GARD:5263,Active,Orphanet,ORPHA:864,Disorder,[Disease],Trichofolliculoma,,"A rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.",,,,,,Trichofolliculoma,TRUE,FALSE,Active +GARD:5264,Legacy,GARD,,,,,,,,,,,,Trichomalacia,TRUE,FALSE,Retired +GARD:5266,Active,Orphanet,ORPHA:3363,Disorder,[Malformation syndrome],Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,"[Long eyelashes-intellectual disability syndrome, Oliver-McFarlane syndrome]","Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.",[275400],,,,,"Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina",TRUE,FALSE,Active +GARD:5267,Active,Orphanet,ORPHA:3355,Disorder,[Malformation syndrome],Trichoodontoonychial dysplasia,[Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region],"Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.",[275450],,,,,Trichoodontoonychial dysplasia,TRUE,FALSE,Active +GARD:5269,Legacy,GARD,,,,,,,,,,,,Trichostasis spinulosa,TRUE,FALSE,Active +GARD:527,Active,Orphanet,ORPHA:98834,Disorder,[Disease],Acute myeloblastic leukemia with maturation,"[AML M2, Acute myeloblastic leukemia M2]","A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.",,,,,,Acute myeloblastic leukemia with maturation,TRUE,FALSE,Active +GARD:5270,Active,Orphanet+OMIM,OMIM:601675,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 1, photosensitive","[pibids syndrome, tay syndrome, trichothiodystrophy with congenital ichthyosis, ichthyosiform erythroderma with hair abnormality and mental and growth retardation, Trichothiodystrophy, photosensitive]","Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by {9:Faghri et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Trichothiodystrophy\n\nAlso see TTD2 ({616390}), caused by mutation in the ERCC3/XPB gene ({133510}); TTD3 ({616395}), caused by mutation in the GTF2H5 gene ({608780}); TTD4 ({234050}), caused by mutation in the MPLKIP gene ({609188}); TTD5 ({300953}), caused by mutation in the RNF113A gene ({300951}); TTD6 ({616943}), caused by mutation in the GTF2E2 gene ({189964}); TTD7 ({618546}), caused by mutation in the TARS gene ({187790}); TTD8 ({619691}), caused by mutation in the AARS1 gene ({601065}); and TTD9 ({619692}), caused by mutation in the MARS1 gene ({156560}).",[601675],[33364],[Trichothiodystrophy],[12109],,Trichothiodystrophy photosensitive,TRUE,FALSE,Retired +GARD:5271,Active,Orphanet+OMIM,OMIM:234050,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 4, nonphotosensitive","[trichothiodystrophy-neurocutaneous syndrome, bids syndrome, amish brittle hair brain syndrome, hair-brain syndrome, Trichothiodystrophy, nonphotosensitive 1, pollitt syndrome]","Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by {6:Faghri et al., 2008}).\n\nSabinas brittle hair syndrome ({211390}) is another form of nonphotosensitive TTD.\n\nFor a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.",[234050],[33364],[Trichothiodystrophy],[12109],,Trichothiodystrophy nonphotosensitive,TRUE,FALSE,Retired +GARD:5274,Active,Orphanet,ORPHA:1209,Disorder,[Morphological anomaly],Tricuspid atresia,,"A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption.",[605067],,,,,Tricuspid atresia,TRUE,FALSE,Active +GARD:5277,Legacy,GARD,,,,,,,,,,,,Trigonocephaly bifid nose acral anomalies,TRUE,FALSE,Active +GARD:5279,Active,Orphanet,ORPHA:2995,Disorder,[Malformation syndrome],Baraitser-Winter cerebrofrontofacial syndrome,,"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.","[243310, 614583]",,,,,Baraitser-Winter syndrome,TRUE,FALSE,Active +GARD:5280,Legacy,GARD,,,,,,,,,,,,Trigonocephaly ptosis mental retardation,TRUE,FALSE,Retired +GARD:5282,Legacy,GARD,,,,,,,,,,,,Trigonomacrocephaly tibial defect polydactyly,TRUE,FALSE,Retired +GARD:5283,Legacy,GARD,,,,,,,,,,,,Trihydroxycholestanoylcoa oxidase isolated deficiency,TRUE,FALSE,Retired +GARD:5286,Active,Orphanet,ORPHA:3374,Disorder,[Morphological anomaly],Triopia,,,,,,,,Triopia,TRUE,FALSE,Active +GARD:5287,Active,Orphanet,ORPHA:868,Disorder,[Disease],Triose phosphate-isomerase deficiency,,Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.,[615512],,,,,Triosephosphate isomerase deficiency,TRUE,FALSE,Active +GARD:5288,Legacy,GARD,,,,,,,,,,,,Triphalangeal thumb non opposable,TRUE,FALSE,Active +GARD:5289,Active,Orphanet,ORPHA:93336,Disorder,[Morphological anomaly],Polydactyly of a triphalangeal thumb,"[PPD2, Preaxial polydactyly type 2]","Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).",[174500],,,,,Preaxial polydactyly type 2,TRUE,FALSE,Active +GARD:529,Active,Orphanet,ORPHA:517,Disorder,[Disease],Acute myelomonocytic leukemia,"[AML M4, AMMoL]","A rare acute myeloid leukemia disorder characterized by increased blast cells (myeloblasts, monoblast, and/or promonoblasts), representing more than 20% of the total bone marrow (BM) or peripheral blood differential counts, with 20-80% of BM cells being of monocytic lineage. Clinical presentation is the result of bone marrow involvement and extramedullary infiltration by the leukemic cells and includes asthenia, pallor, fever, dizziness, respiratory symptoms, easy bruising, bleeding disorders, and neurological deficits. Gingival hyperplasia, organomegaly, especially hepatosplenomegaly, and lymphadenopathy may also be associated.",,,,,,Acute myelomonocytic leukemia,TRUE,FALSE,Active +GARD:5290,Active,Orphanet,ORPHA:2947,Disorder,[Malformation syndrome],Triphalangeal thumbs-brachyectrodactyly syndrome,[Carnevale-Hernández-del Castillo syndrome],"A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.",[190680],,,,,Triphalangeal thumbs brachyectrodactyly,TRUE,FALSE,Active +GARD:5295,Active,Orphanet,ORPHA:3376,Disorder,[Malformation syndrome],Triploidy,,"Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.",,,,,,Triploidy,TRUE,FALSE,Active +GARD:5299,Active,Orphanet,ORPHA:171929,Disorder,[Malformation syndrome],Trisomy 10p,,Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.,,,,,,Chromosome 10p duplication,TRUE,FALSE,Active +GARD:530,Legacy,GARD,,,,,,,,,,,,Acute myeloblastic leukemia type 5,TRUE,FALSE,Retired +GARD:5304,Active,Orphanet,ORPHA:1698,Disorder,[Malformation syndrome],Mosaic trisomy 12,"[Mosaic trisomy chromosome 12, Trisomy 12 mosaicism]","Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.",,,,,,Trisomy 12 mosaicism,TRUE,FALSE,Active +GARD:5305,Active,Orphanet,ORPHA:1699,Disorder,[Malformation syndrome],Trisomy 12p,[Duplication 12p],"A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.",,,,,,Chromosome 12p duplication,TRUE,FALSE,Active +GARD:5311,Legacy,GARD,,,,,,,,,,,,Chromosome 14q duplication,TRUE,FALSE,Active +GARD:5313,Active,Orphanet,ORPHA:1706,Disorder,[Malformation syndrome],Mosaic trisomy 15,"[Mosaic trisomy chromosome 15, Trisomy 15 mosaicism]","Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.",,,,,,"Chromosome 15, trisomy mosaicism",TRUE,FALSE,Active +GARD:5314,Legacy,GARD,,,,,,,,,,,,Chromosome 15q duplication,TRUE,FALSE,Active +GARD:5315,Legacy,GARD,,,,,,,,,,,,Chromosome 16p duplication,TRUE,FALSE,Active +GARD:5316,Legacy,GARD,,,,,,,,,,,,Chromosome 16q duplication,TRUE,FALSE,Active +GARD:5317,Active,Orphanet,ORPHA:1711,Disorder,[Malformation syndrome],Mosaic trisomy 17,"[Mosaic trisomy chromosome 17, Trisomy 17 mosaicism]","Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.",,,,,,Trisomy 17 mosaicism,TRUE,FALSE,Active +GARD:5318,Active,Orphanet,ORPHA:261290,Disorder,[Malformation syndrome],Trisomy 17p,[Dup(17p)],"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.",,,,,,Chromosome 17p duplication,TRUE,FALSE,Active +GARD:532,Legacy,GARD,,,,,,,,,,,,Acute myeloblastic leukemia type 7,TRUE,FALSE,Retired +GARD:5320,Legacy,GARD,,,,,,,,,,,,Chromosome 17q duplication,TRUE,FALSE,Active +GARD:5323,Active,Orphanet,ORPHA:1715,Disorder,[Malformation syndrome],Trisomy 18p,"[Duplication 18p, Duplication of the short arm of chromosome 18, Trisomy of the short arm of chromosome 18]","A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others.",,,,,,Chromosome 18p duplication,TRUE,FALSE,Active +GARD:5324,Legacy,GARD,,,,,,,,,,,,Chromosome 18q duplication,TRUE,FALSE,Active +GARD:5326,Legacy,GARD,,,,,,,,,,,,Chromosome 19q duplication,TRUE,FALSE,Active +GARD:5331,Active,Orphanet,ORPHA:1723,Disorder,[Malformation syndrome],Mosaic trisomy 2,"[Mosaic trisomy chromosome 2, Trisomy 2 mosaicism]","Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.",,,,,,Trisomy 2 mosaicism,TRUE,FALSE,Active +GARD:5332,Legacy,GARD,,,,,,,,,,,,Chromosome 20 trisomy,TRUE,FALSE,Active +GARD:5333,Active,Orphanet,ORPHA:261318,Disorder,[Malformation syndrome],Trisomy 20p,"[Dup(20p), Duplication of 20p, Partial duplication of chromosome 20p, Partial duplication of the short arm of chromosome 20, Partial trisomy of chromosome 20p, Partial trisomy of the short arm of chromosome 20]","Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.",,,,,,Chromosome 20p duplication,TRUE,FALSE,Active +GARD:5335,Legacy,GARD,,,,,,,,,,,,Trisomy 22,TRUE,FALSE,Active +GARD:5337,Legacy,GARD,,,,,,,,,,,,Chromosome 2p duplication,TRUE,FALSE,Active +GARD:5340,Legacy,GARD,,,,,,,,,,,,Chromosome 2q duplication,TRUE,FALSE,Active +GARD:5342,Active,Orphanet,ORPHA:100071,Disorder,[Malformation syndrome],Mosaic trisomy 3,"[Mosaic trisomy chromosome 3, Trisomy 3 mosaicism]","Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.",,,,,,Trisomy 3 mosaicism,TRUE,FALSE,Active +GARD:5343,Legacy,GARD,,,,,,,,,,,,Chromosome 3p duplication,TRUE,FALSE,Active +GARD:5345,Legacy,GARD,,,,,,,,,,,,Chromosome 3q duplication,TRUE,FALSE,Active +GARD:5347,Legacy,GARD,,,,,,,,,,,,Chromosome 4q duplication,TRUE,FALSE,Active +GARD:535,Legacy,GARD,,,,,,,,,,,,"Acute myeloid leukemia, adult",TRUE,FALSE,Retired +GARD:5351,Legacy,GARD,,,,,,,,,,,,Chromosome 5q duplication,TRUE,FALSE,Active +GARD:5352,Legacy,GARD,,,,,,,,,,,,Chromosome 6p duplication,TRUE,FALSE,Active +GARD:5353,Legacy,GARD,,,,,,,,,,,,Chromosome 6q duplication,TRUE,FALSE,Active +GARD:5354,Active,Orphanet,ORPHA:1747,Disorder,[Malformation syndrome],Mosaic trisomy 7,"[Mosaic trisomy chromosome 7, Trisomy 7 mosaicism]","Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.",,,,,,Mosaic trisomy 7,TRUE,FALSE,Active +GARD:5355,Legacy,GARD,,,,,,,,,,,,Chromosome 7p duplication,TRUE,FALSE,Active +GARD:5357,Legacy,GARD,,,,,,,,,,,,Chromosome 7q duplication,TRUE,FALSE,Active +GARD:5359,Active,Orphanet,ORPHA:96061,Disorder,[Malformation syndrome],Mosaic trisomy 8,"[Mosaic trisomy chromosome 8, Trisomy 8 mosaicism, Warkany syndrome]","A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.",,,,,,Mosaic trisomy 8,TRUE,FALSE,Active +GARD:536,Active,Orphanet,ORPHA:98829,Disorder,[Disease],Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),[AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)],"A rare acute myeloid leukemia (AML) with recurrent genetic anomaly disorder characterized by an inv(16)(p13q22) or t(16;16)(p13;q22) cytogenic abnormality, which generates a CBFB-MYH11 fusion gene, presenting with typical morphologic features of AML as well as abnormal bone marrow eosinophils (seen in all stages of maturation with no significant signs of maturation arrest). Myeloid sarcoma and involvement of the central nervous system is relatively common. Cytology reveals myeloblasts, a significant monocytic component and variable numbers of immature eosinophils with atypical purple-violet granules in addition to eosinophilic granules. Presence of the fusion gene is sufficent for diagnosis irrespective of blast count.",,,,,,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) ,TRUE,FALSE,Active +GARD:5361,Legacy,GARD,,,,,,,,,,,,Chromosome 8p duplication,TRUE,FALSE,Active +GARD:5362,Active,Orphanet,ORPHA:1752,Disorder,[Malformation syndrome],Trisomy 8q,[Duplication 8q],"A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.",,,,,,Chromosome 8q duplication,TRUE,FALSE,Active +GARD:5364,Legacy,GARD,,,,,,,,,,,,Chromosome 9p duplication,TRUE,FALSE,Active +GARD:5369,Legacy,GARD,,,,,,,,,,,,Chromosome Xq duplication,TRUE,FALSE,Active +GARD:537,Legacy,GARD,,,,,,,,,,,,Acute non lymphoblastic leukemia,TRUE,FALSE,Active +GARD:5371,Legacy,GARD,,,,,,,,,,,,Trochlear dysplasia,TRUE,FALSE,Active +GARD:5372,Active,Orphanet,ORPHA:101000,Disorder,[Disease],Autosomal recessive spastic paraplegia type 20,"[Childhood-onset spastic paraparesis-distal muscle wasting syndrome, SPG20, Troyer syndrome]","Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.",[275900],,,,,Troyer syndrome,TRUE,FALSE,Active +GARD:5376,Legacy,GARD,,,,,,,,,,,,Trueb Burg Bottani syndrome,TRUE,FALSE,Active +GARD:5378,Legacy,GARD,,,,,,,,,,,,Tsukahara Azuno Kajii syndrome,TRUE,FALSE,Retired +GARD:538,Active,Orphanet,ORPHA:520,Disorder,[Disease],Acute promyelocytic leukemia,"[AML M3, AML with t(15;17)(q22;q12);(PML/RARalpha) and variants, APML, Acute myeloblastic leukemia 3, Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants]","An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue.",[612376],,,,,Acute promyelocytic leukemia,TRUE,FALSE,Active +GARD:5380,Legacy,GARD,,,,,,,,,,,,"Tuberous sclerosis, type 1",TRUE,FALSE,Retired +GARD:5381,Legacy,GARD,,,,,,,,,,,,"Tuberous sclerosis, type 2",TRUE,FALSE,Retired +GARD:5388,Active,Orphanet,ORPHA:3402,Disorder,[Disease],Transient tyrosinemia of the newborn,[Transient tyrosinemia of the neonate],"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.",,,,,,Tyrosine-oxidase temporary deficiency,TRUE,FALSE,Active +GARD:5392,Active,Orphanet,ORPHA:79238,Disorder,[Disease],Galactose epimerase deficiency,"[Epimerase deficiency galactosemia, GALE deficiency, GALE-D, Galactosemia type 3, UDP-galactose-4-epimerase deficiency, Uridine diphosphate galactose-4-epimerase deficiency]","A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.",[230350],,,,,Galactose epimerase deficiency,TRUE,FALSE,Active +GARD:5393,Active,Orphanet,ORPHA:3403,Disorder,[Morphological anomaly],Uhl anomaly,,Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.,[107970],,,,,Uhl anomaly,TRUE,FALSE,Retired +GARD:5394,Active,Orphanet,ORPHA:3404,Disorder,[Malformation syndrome],Ulbright-Hodes syndrome,"[Renal dysplasia-limb defects syndrome, Renal dysplasia-mesomelia-radiohumeral fusion syndrome]","Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.",[266910],,,,,Renal dysplasia-limb defects syndrome,TRUE,FALSE,Active +GARD:5395,Active,Orphanet,ORPHA:3406,Disorder,[Disease],Ulerythema ophryogenesis,,"Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.",[604093],,,,,Ulerythema ophryogenesis,TRUE,FALSE,Active +GARD:5398,Active,Orphanet,ORPHA:2249,Disorder,[Malformation syndrome],Ulna hypoplasia-intellectual disability syndrome,,"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.",[276821],,,,,Ulna hypoplasia-intellectual disability syndrome,TRUE,FALSE,Active +GARD:54,Active,Orphanet,ORPHA:1203,Disorder,[Morphological anomaly],Duodenal atresia,,"A rare, non-syndromic intestinal malformation characterized by a complete but short segment obliteration of the duodenal lumen.",[223400],,,,,Duodenal atresia,TRUE,FALSE,Active +GARD:540,Active,Orphanet,ORPHA:42,Disorder,[Disease],Medium chain acyl-CoA dehydrogenase deficiency,"[ACADM deficiency, Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency, MCAD deficiency, MCADD, Medium chain acyl-coenzyme A dehydrogenase deficiency]","Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.",[201450],,,,,Medium-chain acyl-coenzyme A dehydrogenase deficiency,TRUE,FALSE,Active +GARD:5400,Active,Orphanet,ORPHA:1122,Disorder,[Malformation syndrome],Ulnar hypoplasia-split foot syndrome,"[Ulnar hypoplasia-lobster-claw deformity of feet syndrome, Van den Berghe-Dequecker syndrome]","Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.",[314360],,,,,Ulnar hypoplasia lobster claw deformity of feet,TRUE,FALSE,Active +GARD:5403,Active,Orphanet,ORPHA:3405,Disorder,[Malformation syndrome],Umbilical cord ulceration-intestinal atresia syndrome,,"A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia.",,,,,,Umbilical cord ulceration and intestinal atresia,TRUE,FALSE,Active +GARD:5404,Active,Orphanet,ORPHA:1410,Disorder,[Disease],Uncombable hair syndrome,[Pili trianguli et canaliculi],"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.","[617251, 617252, 191480]",,,,,Uncombable hair syndrome,TRUE,FALSE,Active +GARD:5406,Legacy,GARD,,,,,,,,,,,,"Chromosome 10, uniparental disomy",TRUE,FALSE,Active +GARD:5407,Legacy,GARD,,,,,,,,,,,,Uniparental disomy of chromosome 11,TRUE,FALSE,Active +GARD:5408,Active,Orphanet,ORPHA:97685,Subtype of disorder,[Clinical subtype],17q11 microdeletion syndrome,"[Del(17)(q11), Monosomy 17q11, NF1 microdeletion syndrome, Neurofibromatosis type 1 microdeletion syndrome]","17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.",[613675],,,,,Chromosome 17q11.2 deletion syndrome,TRUE,FALSE,Active +GARD:5409,Active,Orphanet,ORPHA:96334,Subtype of disorder,[Etiological subtype],Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,[UPD(14)pat],,[608149],,,,,Paternal uniparental disomy of chromosome 14,TRUE,FALSE,Active +GARD:5411,Legacy,GARD,,,,,,,,,,,,"Chromosome 16, uniparental disomy",TRUE,FALSE,Active +GARD:5412,Legacy,GARD,,,,,,,,,,,,Uniparental disomy of chromosome 2,TRUE,FALSE,Active +GARD:5413,Legacy,GARD,,,,,,,,,,,,"Chromosome 21, uniparental disomy",TRUE,FALSE,Active +GARD:5415,Legacy,GARD,,,,,,,,,,,,"Chromosome 5, uniparental disomy",TRUE,FALSE,Active +GARD:5416,Legacy,GARD,,,,,,,,,,,,Uniparental disomy of chromosome 6,TRUE,FALSE,Active +GARD:5421,Active,Orphanet,ORPHA:3408,Disorder,[Malformation syndrome],Upington disease,[Hip dysplasia-enchondromata-ecchondroma syndrome],"A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971.",[191520],,,,,Upington disease,TRUE,FALSE,Active +GARD:5424,Legacy,GARD,,,,,,,,,,,,Upton Young syndrome,TRUE,FALSE,Retired +GARD:5425,Active,Orphanet,ORPHA:488,Disorder,[Morphological anomaly],Urachal cyst,,"Urachal cyst is a congenital urachal anomaly (see this term) characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.",,,,,,Urachal cyst,TRUE,FALSE,Active +GARD:5426,Active,Orphanet,ORPHA:3409,Disorder,[Malformation syndrome],Urban-Rogers-Meyer syndrome,"[Intellectual disability-short stature-hand contractures-genital anomalies syndrome, Prader-Willi habitus-osteopenia-camptodactyly syndrome]","This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.",[264010],,,,,"Prader-Willi habitus, osteopenia, and camptodactyly",TRUE,FALSE,Active +GARD:5427,Active,Orphanet,ORPHA:1839,Disorder,[Malformation syndrome],Hereditary mucoepithelial dysplasia,[Urban-Schosser-Spohn syndrome],"A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number of desmosomes.",[158310],,,,,Hereditary mucoepithelial dysplasia,TRUE,FALSE,Active +GARD:5428,Legacy,GARD,,,,,,,,,,,,Urethral obstruction sequence,TRUE,FALSE,Active +GARD:5429,Active,Orphanet,ORPHA:30,Disorder,[Disease],Hereditary orotic aciduria,"[Orotidylic decarboxylase deficiency, Uridine monophosphate synthetase deficiency]","A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as epilepsy, have also been reported.",[258900],,,,,Orotic aciduria type 1,TRUE,FALSE,Active +GARD:5430,Active,Orphanet,ORPHA:1655,Disorder,[Malformation syndrome],Müllerian derivatives-lymphangiectasia-polydactyly syndrome,[Urioste syndrome],"A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.",[235255],,,,,Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly,TRUE,FALSE,Active +GARD:5432,Legacy,GARD,,,,,,,,,,,,Urogenital adysplasia,TRUE,FALSE,Active +GARD:5433,Legacy,GARD,,,,,,,,,,,,Uropathy distal obstructive polydactyly,TRUE,FALSE,Retired +GARD:5435,Active,Orphanet,ORPHA:231169,Subtype of disorder,[Clinical subtype],Usher syndrome type 1,[USH1],"A rare ciliopathy characterized by profound congenital deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance.","[602097, 614990, 602083, 612632, 276900, 614869, 618632, 276904, 606943, 601067]",,,,,"Usher syndrome, type 1",TRUE,FALSE,Active +GARD:5436,Active,Orphanet+OMIM,OMIM:276900,Subtype of disorder,[Clinical subtype],"Usher syndrome, type i","[retinitis pigmentosa and congenital deafness, Us1]","Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({42:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss. Patients with type IV (USH4; {618144}) have late onset of both retinitis pigmentosa and progressive, moderate to severe sensorineural hearing loss without vestibular involvement ({32:Khateb et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Usher Syndrome Type I\n\nUSH type I is genetically heterogeneous. USH1C ({276904}), the 'Acadian variety,' is caused by mutation in harmonin ({605242}), on 11p15. USH1D ({601067}) is caused by mutation in the cadherin-23 (CDH23; {605516}) on 10q21. USH1F ({602083}) is caused by mutation in the protocadherin-15 (PCDH15; {605514}) on 10q22. USH1G ({606943}) is caused by mutation in the SANS gene ({607696}), on 17q25. USH1E ({602097}) maps to 21q21, and USH1H ({612632}) maps to 15q22-q23. USH1J ({614869}) is caused by mutation in the CIB2 gene ({605564}) on 15q24. USH1K ({614990}) maps to chromosome 10p11.21-q21.1.\n\nA form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.\n\n{17:Gerber et al. (2006)} presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.\n\n{4:Ahmed et al. (2003)} reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.",[276900],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1B",TRUE,FALSE,Active +GARD:5437,Active,Orphanet+OMIM,OMIM:276904,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ic","[Usher syndrome, type i, acadian variety]","Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({9:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900}).",[276904],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1C",TRUE,FALSE,Active +GARD:5438,Active,Orphanet+OMIM,OMIM:601067,Subtype of disorder,[Clinical subtype],"Usher syndrome, type id",,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({3:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see {276900}.",[601067],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1D",TRUE,FALSE,Active +GARD:5439,Active,Orphanet+OMIM,OMIM:602097,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ie",,"Usher syndrome type I an autosomal recessive disorder characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa, and constant vestibular dysfunction (summary by {1:Chaib et al., 1997}).\n\nFor a discussion of genetic heterogeneity of USH type I, see {276900}.",[602097],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1E",TRUE,FALSE,Active +GARD:5440,Active,Orphanet,ORPHA:231178,Subtype of disorder,[Clinical subtype],Usher syndrome type 2,[USH2],"A rare ciliopathy characterized by congenital moderate-to-severe deafness, retinitis pigmentosa developing in the first or second decade, and normal vestibular function. Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness, constricted visual field (tunnel vision), and later on decreased visual acuity sometimes ending with bare light perception.","[276901, 611383, 605472]",,,,,Usher syndrome type 2A,TRUE,FALSE,Active +GARD:5441,Legacy,GARD,,,,,,,,,,,,"Usher syndrome, type 2B",TRUE,FALSE,Active +GARD:5442,Active,Orphanet,ORPHA:231183,Subtype of disorder,[Clinical subtype],Usher syndrome type 3,[USH3],"A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood.","[500004, 276902, 614504]",,,,,Usher syndrome type 3A,TRUE,FALSE,Active +GARD:5443,Active,Orphanet,ORPHA:887,Disorder,[Malformation syndrome],VACTERL/VATER association,"[VACTERL association, VATER association]","VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.",[192350],,,,,VACTERL association,TRUE,FALSE,Active +GARD:5444,Legacy,GARD,,,,,,,,,,,,Vacuolar myopathy,FALSE,FALSE,Retired +GARD:5445,Active,Orphanet,ORPHA:3109,Disorder,[Malformation syndrome],Mayer-Rokitansky-Küster-Hauser syndrome,"[MRKH syndrome, Rokitansky syndrome]",Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations) (see these terms).,"[277000, 601076]",,,,,Mayer-Rokitansky-Kuster-Hauser syndrome,TRUE,FALSE,Retired +GARD:5447,Active,Orphanet,ORPHA:1906,Disorder,[Malformation syndrome],Fetal valproate spectrum disorder,"[Fetal valproate syndrome, Fetal valproic acid syndrome, Valproic acid embryopathy]","A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).",[609442],,,,,Fetal valproate syndrome,TRUE,FALSE,Active +GARD:5448,Legacy,GARD,,,,,,,,,,,,Van Allen Myhre syndrome,TRUE,FALSE,Retired +GARD:545,Legacy,GARD,,,,,,,,,,,,Adducted thumbs Dundar type,TRUE,FALSE,Retired +GARD:5453,Active,Orphanet,ORPHA:3417,Disorder,[Malformation syndrome],Van den Bosch syndrome,,"A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.",[314500],,,,,Van Den Bosch syndrome,TRUE,FALSE,Active +GARD:5456,Active,Orphanet,ORPHA:314679,Disorder,[Malformation syndrome],Cerebrofacioarticular syndrome,[Van Maldergem syndrome],"Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.","[615546, 601390]",,,,,Cerebro-facio-articular syndrome,TRUE,FALSE,Active +GARD:5457,Legacy,GARD,,,,,,,,,,,,Van Regemorter Pierquin Vamos syndrome,TRUE,FALSE,Retired +GARD:5458,Legacy,GARD,,,,,,,,,,,,Orofaciodigitale syndrome 6,TRUE,FALSE,Retired +GARD:5459,Legacy,GARD,,,,,,,,,,,,Varicella virus antenatal infection,TRUE,FALSE,Retired +GARD:546,Active,Orphanet,ORPHA:976,Disorder,[Disease],Adenine phosphoribosyltransferase deficiency,"[2,8-dihydroxyadenine urolithiasis, APRT deficiency]","A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.",[614723],,,,,Adenine phosphoribosyltransferase deficiency,TRUE,FALSE,Active +GARD:5461,Active,Orphanet,ORPHA:48,Disorder,[Morphological anomaly],Congenital bilateral absence of vas deferens,"[Congenital bilateral agenesis of vas deferens, Congenital bilateral aplasia of vas deferens]",Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.,"[300985, 277180]",,,,,Congenital bilateral absence of the vas deferens,TRUE,FALSE,Active +GARD:5463,Legacy,GARD,,,,,,,,,,,,Vascular malposition,TRUE,FALSE,Retired +GARD:5465,Legacy,GARD,,,,,,,,,,,,Vasquez Hurst Sotos syndrome,TRUE,FALSE,Active +GARD:5467,Active,Orphanet,ORPHA:1053,Disorder,[Morphological anomaly],Vein of Galen aneurysmal malformation,[Vein of Galen arteriovenous malformations],A congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis.,[618196],,,,,Vein of Galen aneurysm,TRUE,FALSE,Active +GARD:5469,Active,Orphanet,ORPHA:3424,Disorder,[Malformation syndrome],Velo-facial-skeletal syndrome,,"A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.",[600736],,,,,Velofacioskeletal syndrome,TRUE,FALSE,Active +GARD:547,Active,Orphanet,ORPHA:45,Disorder,[Disease],Adenosine monophosphate deaminase deficiency,"[AMP deaminase deficiency, Myoadenylate deaminase deficiency]","A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.","[615511, 612874]",,,,,Adenosine monophosphate deaminase 1 deficiency,TRUE,FALSE,Active +GARD:5470,Active,Orphanet,ORPHA:2291,Disorder,[Morphological anomaly],Congenital velopharyngeal incompetence,,"A rare otorhinolaryngologic malformation characterized by the isolated finding of a short and immobile soft palate with anatomical disproportion of the velopharyngeal structures, preventing velopharyngeal closure. Patients present with delayed speech development and hypernasal speech.",[167500],,,,,Palatopharyngeal incompetence,TRUE,FALSE,Active +GARD:5472,Active,Orphanet,ORPHA:3201,Disorder,[Malformation syndrome],Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome,[Stoll-Kieny-Dott syndrome],"This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term).",[192445],,,,,Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence,TRUE,FALSE,Active +GARD:5474,Legacy,GARD,,,,,,,,,,,,"Ventricular fibrillation, idiopathic",TRUE,FALSE,Active +GARD:5476,Active,Orphanet,ORPHA:860,Disorder,[Morphological anomaly],Congenitally uncorrected transposition of the great arteries,"[Congenitally uncorrected transposition of the great vessels, D-transposition of the great arteries, Dextro-transposition of the great arteries, Isolated ventriculoarterial discordance, Ventriculoarterial discordance with atrioventricular concordance]","Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.","[613854, 608808]",,,,,"Ventriculoarterial discordance, isolated",TRUE,FALSE,Active +GARD:5477,Legacy,GARD,,,,,,,,,,,,Ventruto Digirolamo Festa syndrome,TRUE,FALSE,Retired +GARD:5478,Active,Orphanet,ORPHA:2899,Disorder,[Malformation syndrome],Brachyolmia-amelogenesis imperfecta syndrome,"[Platyspondyly-amelogenesis imperfecta syndrome, Verloes-Bourguignon syndrome]","An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.",[601216],,,,,Verloes Bourguignon syndrome,TRUE,FALSE,Active +GARD:548,Legacy,GARD,,,,,,,,,,,,Anemia due to Adenosine triphosphatase deficiency,TRUE,FALSE,Active +GARD:5481,Active,Orphanet,ORPHA:2551,Disorder,[Malformation syndrome],Microspherophakia-metaphyseal dysplasia syndrome,[Verloes-Van Maldergem-de Marneffe syndrome],Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.,[157151],,,,,Verloes Van Maldergem Marneffe syndrome,TRUE,FALSE,Active +GARD:5482,Active,Orphanet,ORPHA:3429,Disorder,[Malformation syndrome],Verloove Vanhorick-Brubakk syndrome,[Cleft lip-limb and heart malformations syndrome],"Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.",[215850],,,,,Verloove Vanhorick Brubakk syndrome,TRUE,FALSE,Active +GARD:5484,Active,Orphanet,ORPHA:79466,Subtype of disorder,[Clinical subtype],Inflammatory linear verrucous epidermal nevus,[ILVEN],,,,,,,Inflammatory linear verrucous epidermal nevus,TRUE,FALSE,Active +GARD:5485,Active,Orphanet,ORPHA:79468,Subtype of disorder,[Clinical subtype],Acanthokeratolytic verrucous nevus,,,,,,,,Verrucous nevus acanthokeratolytic,TRUE,FALSE,Active +GARD:5486,Legacy,GARD,,,,,,,,,,,,Vertebral body fusion overgrowth,TRUE,FALSE,Active +GARD:5487,Legacy,GARD,,,,,,,,,,,,Vertebral fusion posterior lumbosacral blepharoptosis,TRUE,FALSE,Retired +GARD:5488,Active,Orphanet,ORPHA:178382,Disorder,[Morphological anomaly],Congenital vertical talus,"[Congenital convex foot, Congenital convex pes valgus, Congenital rocker-bottom foot]","Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.",[192950],,,,,Congenital vertical talus,TRUE,FALSE,Active +GARD:5489,Legacy,GARD,,,,,,,,,,,,"Vestibulocochlear dysfunction, progressive",TRUE,FALSE,Active +GARD:5490,Active,Orphanet,ORPHA:3433,Disorder,[Malformation syndrome],Microcephaly-brachydactyly-kyphoscoliosis syndrome,[Viljoen-Kallis-Voges syndrome],"Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.",,,,,,Viljoen Kallis Voges syndrome,TRUE,FALSE,Active +GARD:5492,Legacy,GARD,,,,,,,,,,,,Viljoen Winship syndrome,TRUE,FALSE,Retired +GARD:5493,Legacy,GARD,,,,,,,,,,,,VIPoma,TRUE,FALSE,Active +GARD:5494,Active,Orphanet,ORPHA:341,Group of disorders,[Category],Viral hemorrhagic fever,,"Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg's disease that first occurred in 1967, and Ebola fever that appeared in 1976. Other viruses may also cause hemorrhagic fevers (for example, arbovirus fever).",,,,,,Viral hemorrhagic fever,TRUE,FALSE,Active +GARD:5495,Active,Orphanet,ORPHA:99916,Disorder,[Disease],Malignant Sertoli-Leydig cell tumor of the ovary,"[Androblastoma, Arrhenoblastoma, Ovarian Sertoli-Leydig cell cancer, Ovarian malignant Sertoli-Leydig cell tumor, Virilizing ovarian tumor]","A rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.",,,,,,Virilizing ovarian tumor,TRUE,FALSE,Active +GARD:5496,Active,Orphanet,ORPHA:1876,Disorder,[Disease],Oculogastrointestinal muscular dystrophy,[Visceral myopathy-familial external ophthalmoplegia syndrome],"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.",[277320],,,,,Familial visceral myopathy with external ophthalmoplegia,TRUE,FALSE,Active +GARD:5498,Legacy,GARD,,,,,,,,,,,,Vitamin A embryopathy,TRUE,FALSE,Retired +GARD:550,Active,Orphanet,ORPHA:46,Disorder,[Disease],Adenylosuccinate lyase deficiency,"[ADSL deficiency, Adenylosuccinase deficiency]","A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.",[103050],,,,,Adenylosuccinase deficiency,TRUE,FALSE,Active +GARD:5500,Active,Orphanet,ORPHA:79310,Subtype of disorder,[Clinical subtype],Vitamin B12-responsive methylmalonic acidemia type cblA,[Vitamin B12-responsive methylmalonic aciduria type cblA],,[251100],,,,,"Methylmalonic aciduria, cblA type",TRUE,FALSE,Active +GARD:5504,Legacy,GARD,,,,,,,,,,,,Vitiligo mental retardation facial dysmorphism uremia,TRUE,FALSE,Retired +GARD:5506,Legacy,GARD,,,,,,,,,,,,Vitreoretinal degeneration,TRUE,FALSE,Active +GARD:5507,Active,Orphanet,ORPHA:3086,Disorder,[Disease],Autosomal dominant vitreoretinochoroidopathy,[ADVIRC],"A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.",[193220],,,,,Autosomal dominant vitreoretinochoroidopathy,TRUE,FALSE,Active +GARD:5508,Active,Orphanet,ORPHA:26793,Disorder,[Disease],Very long chain acyl-CoA dehydrogenase deficiency,"[VLCAD deficiency, VLCADD]","Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.",[201475],,,,,VLCAD deficiency,TRUE,FALSE,Active +GARD:5509,Active,Orphanet,ORPHA:2808,Disorder,[Malformation syndrome],Laryngeal abductor paralysis,"[Familial vocal cord dysfunction, Gerhardt syndrome]",,[150260],,,,,Vocal cord dysfunction familial,TRUE,FALSE,Active +GARD:5513,Active,Orphanet,ORPHA:2578,Subtype of disorder,[Clinical subtype],Mayer-Rokitansky-Küster-Hauser syndrome type 2,"[Atypical MRKH syndrome, MRKH syndrome type 2, MURCS association, Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome]","Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.",[601076],,,,,MURCS association,TRUE,FALSE,Active +GARD:5518,Active,Orphanet,ORPHA:2180,Disorder,[Malformation syndrome],Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome,"[Ferlini-Ragno-Calzolari syndrome, Waaler-Aarskog syndrome]","A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.",[600991],,,,,"Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly",TRUE,FALSE,Active +GARD:5519,Active,Orphanet,ORPHA:894,Subtype of disorder,[Clinical subtype],Waardenburg syndrome type 1,"[WS1, Waardenburg syndrome type I]","A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.",[193500],,,,,Waardenburg syndrome type 1,TRUE,FALSE,Active +GARD:552,Legacy,GARD,,,,,,,,,,,,Adolescent idiopathic scoliosis,FALSE,FALSE,Active +GARD:5520,Active,Orphanet,ORPHA:895,Subtype of disorder,[Clinical subtype],Waardenburg syndrome type 2,"[WS2, Waardenburg syndrome type II]","An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.","[600193, 608890, 611584, 606662, 193510]",,,,,Waardenburg syndrome type 2,TRUE,FALSE,Active +GARD:5521,Legacy,GARD,,,,,,,,,,,,Waardenburg syndrome type 2A,TRUE,FALSE,Retired +GARD:5522,Active,Orphanet+OMIM,OMIM:600193,Subtype of disorder,[Clinical subtype],"Waardenburg syndrome, type 2b",,"Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS ({1:Hughes et al., 1994}). WS type 2B (WS2B) maps to chromosome 1p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580}).",[600193],[895],[Waardenburg syndrome type 2],[5520],,Waardenburg syndrome type 2B,TRUE,FALSE,Retired +GARD:5523,Active,Orphanet,ORPHA:896,Subtype of disorder,[Clinical subtype],Waardenburg syndrome type 3,"[Klein-Waardenburg syndrome, WS3, Waardenburg syndrome type III, Waardenburg syndrome with limb anomalies]","A very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.",[148820],,,,,Waardenburg syndrome type 3,TRUE,FALSE,Active +GARD:5524,Active,Orphanet,ORPHA:897,Disorder,[Disease],Waardenburg-Shah syndrome,"[Shah-Waardenburg syndrome, WS4, Waardenburg syndrome type 4, Waardenburg-Hirschsprung syndrome]","Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).","[277580, 613265, 613266]",,,,,Waardenburg syndrome type 4,TRUE,FALSE,Active +GARD:5525,Active,Orphanet,ORPHA:3440,Disorder,[Disease],Waardenburg syndrome,,"Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.","[148820, 193500, 600193, 608890, 611584, 606662, 193510]",,,,,Waardenburg syndrome,TRUE,FALSE,Active +GARD:5528,Active,Orphanet,ORPHA:893,Disorder,[Malformation syndrome],WAGR syndrome,"[Del(11)(p13), Deletion 11p13, Monosomy 11p13, Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome]","A rare genetic disorder characterized by the association of total or partial aniridia, genitourinary anomalies (ranging from sexual ambiguity to ectopia testis), variable degrees of intellectual disability, and an increased risk of developing Wilms tumor. Glaucoma or cataract are also possible, and a minority of patients develop kidney failure. Other varaible findings may include obesity and duplicated halluces.","[612469, 194072]",,,,,WAGR syndrome,TRUE,FALSE,Active +GARD:5529,Legacy,GARD,,,,,,,,,,,,Walbaum Titran Durieux Crepin syndrome,TRUE,FALSE,Active +GARD:5530,Active,Orphanet,ORPHA:1068,Disorder,[Malformation syndrome],Aniridia-intellectual disability syndrome,[Walker-Dyson syndrome],"An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.",,,,,,Walker Dyson syndrome,TRUE,FALSE,Active +GARD:5532,Active,Orphanet,ORPHA:1453,Disorder,[Malformation syndrome],Cleidorhizomelic syndrome,"[Rhizomelic shortness with clavicular defect, Wallis-Zieff-Goldblatt syndrome]",Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.,[119650],,,,,Cleidorhizomelic syndrome,TRUE,FALSE,Active +GARD:5534,Active,Orphanet,ORPHA:2510,Disorder,[Malformation syndrome],Micro syndrome,"[WARBM, Warburg micro syndrome]","Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.","[614225, 614222, 615663, 600118]",,,,,Micro syndrome,TRUE,FALSE,Active +GARD:5535,Active,Orphanet,ORPHA:3214,Disorder,[Malformation syndrome],"Deaf blind hypopigmentation syndrome, Yemenite type","[Warburg-Thomsen syndrome, Yemenite deaf-blind hypopigmentation syndrome]","Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.",[601706],,,,,Yemenite deaf-blind hypopigmentation syndrome,TRUE,FALSE,Active +GARD:5538,Active,Orphanet,ORPHA:1541,Disorder,[Malformation syndrome],"Craniosynostosis, Boston type","[Craniosynostosis, Warman type, Warman-Mulliken-Hayward syndrome]","Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.",[604757],,,,,Warman Mulliken Hayward syndrome,TRUE,FALSE,Active +GARD:5539,Active,Orphanet,ORPHA:1827,Disorder,[Malformation syndrome],Acromelic frontonasal dysplasia,"[AFND, Acromelic frontonasal dysostosis, Toriello syndrome]","A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.",[603671],,,,,Acromelic frontonasal dysostosis,TRUE,FALSE,Active +GARD:5540,Legacy,GARD,,,,,,,,,,,,Watson syndrome,TRUE,FALSE,Retired +GARD:5543,Legacy,GARD,,,,,,,,,,,,Weaver Johnson syndrome,TRUE,FALSE,Retired +GARD:5544,Legacy,GARD,,,,,,,,,,,,Weaver like syndrome,TRUE,FALSE,Retired +GARD:5545,Active,Orphanet,ORPHA:3448,Disorder,[Malformation syndrome],Weaver-Williams syndrome,,"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.",,,,,,Weaver Williams syndrome,TRUE,FALSE,Active +GARD:555,Active,Orphanet,ORPHA:95702,Disorder,[Disease],X-linked adrenal hypoplasia congenita,"[X-linked AHC, X-linked congenital adrenal hypoplasia]","A rare genetic adrenal disease characterized by primary adrenal insufficiency (AI) and/or hypogonadotropic hypogonadism (HH). Male patients typically present with AI with acute onset in infancy or insidious onset in childhood. Clinical features of AI include hyperpigmentation, vomiting, poor feeding, failure to thrive, seizures, vascular collapse, and sometimes sudden death. HH manifests later as delayed or arrested puberty. In rare cases, patients become symptomatic in early adulthood with delayed-onset AI, partial HH, and/or infertility. Histologically, the adrenal glands lack the permanent adult cortical zone. The remaining cells are larger than fetal adrenal cells (''cytomegalic'') and contain characteristic nuclear inclusions.","[202155, 300200]",,,,,X-linked adrenal hypoplasia congenita,TRUE,FALSE,Active +GARD:5552,Active,Orphanet,ORPHA:603,Disorder,[Disease],"Distal myopathy, Welander type",[WDM],"A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.",[604454],,,,,"Welander distal myopathy, Swedish type",TRUE,FALSE,Active +GARD:5553,Legacy,GARD,,,,,,,,,,,,Weleber Hecht Bigley syndrome,TRUE,FALSE,Retired +GARD:5554,Active,Orphanet,ORPHA:1373,Disorder,[Malformation syndrome],Cataract-aberrant oral frenula-growth delay syndrome,[Wellesley-Carman-French syndrome],"Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.",[115645],,,,,Wellesley Carmen French syndrome,TRUE,FALSE,Active +GARD:5555,Active,Orphanet,ORPHA:2815,Disorder,[Malformation syndrome],Spastic paraparesis-deafness syndrome,"[Spastic paraparesis-hearing loss syndrome, Wells-Jankovic syndrome]","A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.",[312910],,,,,Wells-Jankovic syndrome,TRUE,FALSE,Active +GARD:5557,Legacy,GARD,,,,,,,,,,,,Westphal disease,TRUE,FALSE,Retired +GARD:5558,Legacy,GARD,,,,,,,,,,,,Whitaker syndrome,TRUE,FALSE,Retired +GARD:5560,Active,Orphanet,ORPHA:3207,Disorder,[Malformation syndrome],White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,[Curatolo-Cilio-Pessagno syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.",,,,,,White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,TRUE,FALSE,Active +GARD:5562,Active,Orphanet,ORPHA:2779,Disorder,[Malformation syndrome],Osteopathia striata-pigmentary dermopathy-white forelock syndrome,[Whyte-Murphy syndrome],"A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.",,,,,,Osteopathia striata with pigmentary dermopathy including white forelock,TRUE,FALSE,Active +GARD:5565,Active,Orphanet,ORPHA:319182,Disorder,[Malformation syndrome],Wiedemann-Steiner syndrome,[Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome],"A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability.",[605130],,,,,Wiedemann-Steiner syndrome,TRUE,FALSE,Active +GARD:5566,Legacy,GARD,,,,,,,,,,,,Wiedemann Oldigs Oppermann syndrome,TRUE,FALSE,Active +GARD:5567,Legacy,GARD,,,,,,,,,,,,Wiedemann Opitz syndrome,TRUE,FALSE,Retired +GARD:5569,Active,Orphanet,ORPHA:3456,Disorder,[Malformation syndrome],Wildervanck syndrome,[Cervicooculoacoustic syndrome],"Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness.",[314600],,,,,Wildervanck syndrome,TRUE,FALSE,Active +GARD:5570,Legacy,GARD,,,,,,,,,,,,Wilkes Stevenson syndrome,TRUE,FALSE,Retired +GARD:5573,Active,Orphanet,ORPHA:99147,Disorder,[Disease],Acquired von Willebrand syndrome,[Acquired von Willebrand disease],"A rare bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.",,,,,,Acquired Von Willebrand syndrome,TRUE,FALSE,Active +GARD:5574,Legacy,GARD,,,,,,,,,,,,Willems De vries syndrome,TRUE,FALSE,Retired +GARD:5575,Active,Orphanet,ORPHA:739,Disorder,[Disease],Prader-Willi syndrome,[Prader-Labhart-Willi syndrome],"A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.","[176270, 615547]",,,,,Prader-Willi syndrome,TRUE,FALSE,Active +GARD:5576,Active,Orphanet,ORPHA:220,Disorder,[Disease],Denys-Drash syndrome,"[Drash syndrome, Wilms tumor-DSD syndrome, Wilms tumor-disorder of sex development syndrome]","A rare genetic, syndromic glomerular disorder characterized by the association of nephropathy presenting as persistent proteinuria or overt nephrotic syndrome, Wilms tumor and genitourinary structural defects. In addition, disorders of testicular development are common in subjects with 46,XY karyotype.",[194080],,,,,Denys-Drash syndrome,TRUE,FALSE,Active +GARD:5578,Legacy,GARD,,,,,,,,,,,,Wilms tumor and radial bilateral aplasia,TRUE,FALSE,Active +GARD:5579,Active,Orphanet,ORPHA:3459,Disorder,[Malformation syndrome],Wilson-Turner syndrome,"[WTS, X-linked intellectual disability-gynecomastia-obesity syndrome]","Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.",[309585],,,,,Wilson-Turner syndrome,TRUE,FALSE,Active +GARD:558,Active,Orphanet,ORPHA:1501,Disorder,[Disease],Adrenocortical carcinoma,,A rare cancer that arises from the adrenal cortex.,[202300],,,,,Adrenocortical carcinoma,TRUE,FALSE,Active +GARD:5580,Legacy,GARD,,,,,,,,,,,,Winkelman Bethge Pfeiffer syndrome,TRUE,FALSE,Retired +GARD:5583,Legacy,GARD,,,,,,,,,,,,Winter Harding Hyde syndrome,TRUE,FALSE,Active +GARD:5584,Active,Orphanet,ORPHA:1553,Disorder,[Malformation syndrome],Curry-Jones syndrome,[Corpus callosum agenesis-polysyndactyly syndrome],"Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.",[601707],,,,,Curry Jones syndrome,TRUE,FALSE,Active +GARD:5585,Legacy,GARD,,,,,,,,,,,,Wisconsin syndrome,TRUE,FALSE,Active +GARD:5587,Active,Orphanet,ORPHA:2228,Disorder,[Malformation syndrome],Hypodontia-dysplasia of nails syndrome,"[Hypodontia-nail dysgenesis syndrome, Tooth and nail syndrome, Witkop syndrome]",Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.,[189500],,,,,Witkop syndrome,TRUE,FALSE,Active +GARD:5589,Active,Orphanet,ORPHA:1667,Disorder,[Disease],Wolcott-Rallison syndrome,"[Early-onset diabetes mellitus with multiple epiphyseal dysplasia, WRS]","Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.",[226980],,,,,Epiphyseal dysplasia multiple with early-onset diabetes mellitus,TRUE,FALSE,Active +GARD:559,Active,Orphanet,ORPHA:44,Disorder,[Disease],Neonatal adrenoleukodystrophy,"[Intermediate PBD-ZSD, Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder, NALD]","A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).","[614867, 614885, 601539, 266510, 614871, 617370, 614873, 202370, 614877, 614920, 614863]",,,,,Neonatal adrenoleukodystrophy,TRUE,FALSE,Active +GARD:5592,Active,Orphanet,ORPHA:3464,Disorder,[Disease],Woodhouse-Sakati syndrome,"[Diabetes-hypogonadism-deafness-intellectual disability syndrome, Diabetes-hypogonadism-hearing loss-intellectual disability syndrome]","Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.",[241080],,,,,Woodhouse Sakati syndrome,TRUE,FALSE,Active +GARD:5593,Active,Orphanet+OMIM,OMIM:600546,Subtype of disorder,[Malformation syndrome subtype],Intrauterine growth retardation with increased mitomycin c sensitivity,,"{4:Woods et al. (1995)} reported the case of an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. Seckel syndrome was the initial diagnosis. The infant became pancytopenic at 16 months of age and died soon thereafter. His bone marrow was of normal cellularity but had an infiltration of small lymphocytes. Increased spontaneous chromosome breakage was seen in blood and fibroblasts. Mitomycin C-induced chromosome damage was increased and comparable to that seen in Fanconi anemia. {4:Woods et al. (1995)} proposed that this infant suffered from a distinct chromosome breakage syndrome. They found at least 7 reported cases of Seckel-like intrauterine growth retardation with pancytopenia, including 2 sibs in Seckel's original publication ({2:Seckel, 1960}). Other cases were reported by {3:Upjohn (1955)} and {1:Butler et al. (1987)}. Because Seckel syndrome is likely to be heterogeneous, {4:Woods et al. (1995)} preferred to refer to the disorder they reported as 'severe intrauterine growth retardation with increased mitomycin C sensitivity.'",[600546],[808],[Seckel syndrome],[8562],,Intrauterine growth retardation with increased mitomycin C sensitivity,TRUE,FALSE,Active +GARD:5594,Legacy,GARD,,,,,,,,,,,,Woolly hair hypotrichosis everted lower lip and outstanding ears,TRUE,FALSE,Active +GARD:5595,Active,Orphanet,ORPHA:65282,Disorder,[Disease],Carvajal syndrome,"[KWWH type II, Keratoderma with woolly hair type II, Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome, Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome, Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome, Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome]","A syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.","[615821, 605676]",,,,,Cardiomyopathy dilated with woolly hair and keratoderma,TRUE,FALSE,Active +GARD:5597,Active,Orphanet,ORPHA:170,Disorder,[Disease],Woolly hair,"[Familial woolly hair syndrome, Familial wooly hair syndrome, Hereditary woolly hair syndrome, Hereditary wooly hair syndrome, Wooly hair]",A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.,"[194300, 604379, 615896, 616760, 278150]",,,,,Woolly hair syndrome,TRUE,FALSE,Active +GARD:5598,Active,Orphanet,ORPHA:3465,Disorder,[Malformation syndrome],Worster-Drought syndrome,[Congenital suprabulbar paresis],"Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.",[185480],,,,,Worster Drought syndrome,TRUE,FALSE,Active +GARD:5599,Legacy,GARD,,,,,,,,,,,,Wright Dyck syndrome,FALSE,FALSE,Retired +GARD:5604,Legacy,GARD,,,,,,,,,,,,"X-linked intellectual disability, Turner type",TRUE,FALSE,Active +GARD:5606,Legacy,GARD,,,,,,,,,,,,X-linked mental retardation craniofacial abnormal microcephaly club,TRUE,FALSE,Retired +GARD:5607,Legacy,GARD,,,,,,,,,,,,X-linked mental retardation De silva type,TRUE,FALSE,Retired +GARD:5610,Legacy,GARD,,,,,,,,,,,,Brooks Wisniewski Brown syndrome,TRUE,FALSE,Active +GARD:5611,Active,Orphanet,ORPHA:3078,Disorder,[Malformation syndrome],"Severe X-linked intellectual disability, Gustavson type",,"A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.",[309555],,,,,"Severe X-linked intellectual disability, Gustavson type",TRUE,FALSE,Active +GARD:5612,Legacy,GARD,,,,,,,,,,,,X-linked mental retardation type Martinez,TRUE,FALSE,Retired +GARD:5613,Active,Orphanet+OMIM,OMIM:300387,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 63","[mental retardation, x-linked 68, Mental retardation, x-linked 63]",,[300387],[777],[X-linked non-syndromic intellectual disability],[18640],,ACSL4-related intellectual disability,TRUE,FALSE,Active +GARD:5614,Active,Orphanet+OMIM,OMIM:300419,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 29","[mental retardation, x-linked 32, mental retardation, x-linked 76, mental retardation, x-linked 38, mental retardation, x-linked 87, Mental retardation, x-linked 29, mental retardation, x-linked 43, mental retardation, x-linked 54, mental retardation, x-linked 33, mental retardation, x-linked 52]","Intellectual developmental disorder-29 (XLID29) is a nonspecific form of XLID. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; {300215}) to Proud syndrome ({300004}) to infantile spasms without brain malformations (DEE1; {308350}) to Partington syndrome ({309510}) ({8:Kato et al., 2004}; {13:Wallerstein et al., 2008}).",[300419],[777],[X-linked non-syndromic intellectual disability],[18640],,ARX-related intellectual disability,TRUE,FALSE,Active +GARD:5615,Active,Orphanet,ORPHA:3063,Disorder,[Disease],"X-linked intellectual disability, Snyder type",[Snyder-Robinson syndrome],"X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.",[309583],,,,,Snyder-Robinson syndrome,TRUE,FALSE,Active +GARD:5616,Legacy,GARD,,,,,,,,,,,,X-linked mental retardation type Wittwer,TRUE,FALSE,Retired +GARD:5617,Active,Orphanet,ORPHA:59,Disorder,[Disease],Allan-Herndon-Dudley syndrome,"[AHDS, MCT8 deficiency, Monocarboxylate transporter 8 deficiency, X-linked intellectual disability-hypotonia syndrome]","An X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.",[300523],,,,,Allan-Herndon-Dudley syndrome,TRUE,FALSE,Active +GARD:5618,Active,Orphanet,ORPHA:276,Disorder,[Disease],T-B+ severe combined immunodeficiency due to gamma chain deficiency,"[SCIDX1, T-B+ SCID due to gamma chain deficiency, T-B+ severe combined immunodeficiency, X-linked]","Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.",[300400],,,,,X-linked severe combined immunodeficiency,TRUE,FALSE,Active +GARD:562,Active,Orphanet,ORPHA:977,Disorder,[Disease],Adrenomyodystrophy,,"An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.",[300270],,,,,Adrenomyodystrophy,TRUE,FALSE,Active +GARD:5620,Active,Orphanet,ORPHA:93602,Subtype of disorder,[Etiological subtype],Xanthinuria type II,"[XDH and AOX dual deficiency, Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency]","Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.",[603592],,,,,Xanthinuria type 2,TRUE,FALSE,Active +GARD:5621,Active,Orphanet,ORPHA:93601,Subtype of disorder,[Etiological subtype],Xanthinuria type I,"[XDH deficiency, XO deficiency, XOR deficiency, Xanthine dehydrogenase deficiency, Xanthine oxidase deficiency, Xanthine oxidoreductase deficiency]","Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.",[278300],,,,,Xanthinuria type 1,TRUE,FALSE,Active +GARD:5622,Active,Orphanet,ORPHA:909,Disorder,[Disease],Cerebrotendinous xanthomatosis,"[CTX, Sterol 27-hydroxylase deficiency]","Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.",[213700],,,,,Cerebrotendinous xanthomatosis,TRUE,FALSE,Active +GARD:5623,Active,Orphanet,ORPHA:3202,Disorder,[Disease],Dehydrated hereditary stomatocytosis,[Hereditary xerocytosis],"Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.","[616689, 194380]",,,,,Dehydrated hereditary stomatocytosis,TRUE,FALSE,Active +GARD:5624,Active,Orphanet+OMIM,OMIM:278700,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group a","[xeroderma pigmentosum i, Xp, group a]","Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome ({278800}) ({41:Satokata et al., 1992}).\n\nSee also XPB ({610651}), XPC ({278720}), XPD ({278730}), XPE ({278740}), XPF ({278760}), XPG ({278780}), and variant XP (XPV; {278750}).",[278700],[910],[Xeroderma pigmentosum],[7910],,"Xeroderma pigmentosum, type 1",TRUE,FALSE,Retired +GARD:5625,Active,Orphanet+OMIM,OMIM:610651,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group b","[Xp, group b]","For a general discussion of xeroderma pigmentosum, see XPA ({278700}), and of Cockayne syndrome, see CSA ({216400}).\n\n{1:Cleaver (1990)} provided a review of the causes of xeroderma pigmentosum.",[610651],"[220295, 910]","[Xeroderma pigmentosum, Xeroderma pigmentosum-Cockayne syndrome complex]","[7910, 17130]",,"Xeroderma pigmentosum, type 2",TRUE,FALSE,Retired +GARD:5626,Active,Orphanet+OMIM,OMIM:278720,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group c","[xeroderma pigmentosum iii, Xpcc, xp, group c]","Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by {12:Li et al., 1993}).\n\nFor a general discussion of xeroderma pigmentosum, see XPA ({278700}).",[278720],[910],[Xeroderma pigmentosum],[7910],,"Xeroderma pigmentosum, type 3",TRUE,FALSE,Retired +GARD:5627,Active,Orphanet+OMIM,OMIM:278740,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group e","[xp, group e, xeroderma pigmentosum v, Xpe]",,[278740],[910],[Xeroderma pigmentosum],[7910],,"Xeroderma pigmentosum, type 5",TRUE,FALSE,Retired +GARD:5628,Active,Orphanet+OMIM,OMIM:278760,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group f","[Xp, group f, xeroderma pigmentosum vi]","Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by {4:Kashiyama et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA ({278700}), and of Cockayne syndrome, see CSA ({216400}).",[278760],"[220295, 910]","[Xeroderma pigmentosum, Xeroderma pigmentosum-Cockayne syndrome complex]","[7910, 17130]",,"Xeroderma pigmentosum, type 6",TRUE,FALSE,Retired +GARD:5629,Active,Orphanet+OMIM,OMIM:278780,Subtype of disorder,"[Clinical subtype, Disease subtype]","Xeroderma pigmentosum, complementation group g","[Xp, group g, xeroderma pigmentosum vii]","For a general description of xeroderma pigmentosum, see XPA ({278700}), and of Cockayne syndrome, see CSA ({216400}). Complementation group G has one of the smallest series of cases ({1:Arlett et al., 1980}).",[278780],"[220295, 1466, 910]","[Xeroderma pigmentosum, COFS syndrome, Xeroderma pigmentosum-Cockayne syndrome complex]","[7910, 6027, 17130]",,Xeroderma pigmentosum type 7,TRUE,FALSE,Retired +GARD:563,Legacy,GARD,,,,,,,,,,,,Idiopathic neutropenia,FALSE,FALSE,Active +GARD:5630,Active,Orphanet,ORPHA:90342,Disorder,[Disease],Xeroderma pigmentosum variant,[XPV],"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.",[278750],,,,,"Xeroderma pigmentosum, variant type",TRUE,FALSE,Active +GARD:5631,Legacy,GARD,,,,,,,,,,,,Xeroderma talipes enamel defects,TRUE,FALSE,Retired +GARD:564,Active,Orphanet,ORPHA:83420,Subtype of disorder,[Clinical subtype],Proximal spinal muscular atrophy type 4,"[SMA type 4, SMA type IV, SMA-IV, SMA4, Spinal muscular atrophy, adult form]","A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with adult onset, slowly progressive, mild proximal muscle weakness.",[271150],,,,,Spinal muscular atrophy type 4,TRUE,FALSE,Active +GARD:5642,Active,Orphanet,ORPHA:916,Disorder,[Malformation syndrome],Aase-Smith syndrome,"[Aase-Smith I syndrome, Hydrocephalus-cleft palate-joint contractures syndrome]","A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.",[147800],,,,,Hydrocephalus-cleft palate-joint contractures syndrome,TRUE,FALSE,Active +GARD:5643,Active,Orphanet,ORPHA:101,Disorder,[Disease],Dentatorubral pallidoluysian atrophy,"[DRPLA, Dentatorubropallidoluysian atrophy, Naito-Oyanagi disease]","A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.",[125370],,,,,Dentatorubral-pallidoluysian atrophy,TRUE,FALSE,Active +GARD:5644,Active,Orphanet+OMIM,OMIM:601154,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1e","[Cardiomyopathy, dilated, with conduction disorder and arrhythmia, cardiomyopathy, dilated, with conduction defect 2]",,[601154],[154],[Familial isolated dilated cardiomyopathy],[2905],,Dilated cardiomyopathy 1E,TRUE,FALSE,Active +GARD:5648,Active,Orphanet,ORPHA:166409,Disorder,[Disease],Photosensitive epilepsy,,"A rare reflex epilepsy characterized by seizures and photoparoxysmal responses triggered by flashing or flickering lights, or patterns. Exact nature of the stimulus and seizure type are variable. The disorder mainly presents in childhood and adolescence and can either occur as an isolated condition, or be associated to other epilepsy syndromes.","[609572, 609573, 132100]",,,,,Photosensitive epilepsy,TRUE,FALSE,Active +GARD:5651,Legacy,GARD,,,,,,,,,,,,Polymorphous low-grade adenocarcinoma,TRUE,FALSE,Active +GARD:5653,Active,Orphanet,ORPHA:251576,Subtype of disorder,[Histopathological subtype],Gliosarcoma,,,,,,,,Gliosarcoma,TRUE,FALSE,Active +GARD:5654,Active,Orphanet,ORPHA:163699,Disorder,[Disease],Alveolar soft tissue sarcoma,"[ASPS, Alveolar soft part sarcoma]","A rare soft tissue sarcoma characterized by a slowly growing, painless space-occupying lesion, composed of large, uniform, epithelioid cells arranged in solid nests and/or alveolar structures, separated by thin, sinusoidal vessels. The tumor mostly affects adolescents and young adults. Early metastasis, most commonly to the lung, bones, and brain, is a characteristic feature and relevant prognostic factor, together with age at presentation and tumor size, while histological features have no prognostic significance.",[606243],,,,,Alveolar soft part sarcoma,TRUE,FALSE,Active +GARD:5657,Active,Orphanet,ORPHA:42642,Disorder,[Disease],PFAPA syndrome,"[Marshall syndrome with periodic fever, Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome]","PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.",,,,,,"Periodic fever, aphthous stomatitis, pharyngitis and adenitis",TRUE,FALSE,Active +GARD:5658,Active,Orphanet,ORPHA:90795,Disorder,[Disease],Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,"[CAH due to 11-beta-hydroxylase deficiency, CYP11B1 deficiency]","A rare form of classic congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.",[202010],,,,,11-beta-hydroxylase deficiency,TRUE,FALSE,Active +GARD:5659,Active,Orphanet,ORPHA:752,Disorder,[Disease],"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","[17-beta-hydroxysteroid dehydrogenase 3 deficiency, 17-ketoreductase deficiency, 17-ketosteroidreductase deficiency]","17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.",[264300],,,,,17-beta hydroxysteroid dehydrogenase 3 deficiency,TRUE,FALSE,Active +GARD:5660,Legacy,GARD,,,,,,,,,,,,18 Hydroxylase deficiency,TRUE,FALSE,Active +GARD:5661,Active,Orphanet,ORPHA:79315,Disorder,[Disease],D-2-hydroxyglutaric aciduria,"[D-2-HGA, D-2-hydroxyglutaric acidemia]","D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.","[600721, 613657]",,,,,D-2-hydroxyglutaric aciduria,TRUE,FALSE,Active +GARD:5662,Active,Orphanet,ORPHA:939,Disorder,[Disease],3-hydroxyisobutyric aciduria,,"A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described.",[236795],,,,,3-Hydroxyisobutyric aciduria,TRUE,FALSE,Active +GARD:5663,Active,Orphanet,ORPHA:67047,Disorder,[Disease],3-methylglutaconic aciduria type 3,"[Autosomal recessive optic atrophy plus syndrome, Autosomal recessive optic atrophy type 3, Costeff optic atrophy syndrome, Costeff syndrome, Infantile optic atrophy with chorea and spastic paraplegia, MGA3]",3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.,[258501],,,,,OPA3 defect,TRUE,FALSE,Active +GARD:5665,Active,Orphanet+OMIM,OMIM:210200,Subtype of disorder,[Disease subtype],3-methylcrotonyl-coa carboxylase 1 deficiency,"[mcc1 deficiency, methylcrotonylglycinuria type i, Mccd type 1, 3-methylcrotonylglycinuria i]",,[210200],[6],[3-methylcrotonyl-CoA carboxylase deficiency],[10954],,3 Methylcrotonyl-CoA carboxylase 1 deficiency,TRUE,FALSE,Retired +GARD:5666,Active,Orphanet,ORPHA:7,Disorder,[Malformation syndrome],3C syndrome,"[Craniocerebellocardiac dysplasia, Ritscher-Schinzel syndrome]","Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).","[300963, 619135, 220210]",,,,,Dandy-Walker like malformation with atrioventricular septal defect,TRUE,FALSE,Active +GARD:5667,Active,Orphanet,ORPHA:2616,Disorder,[Malformation syndrome],3M syndrome,"[3-M syndrome, Yakut short stature syndrome]","A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.","[273750, 612921, 614205]",,,,,3M syndrome,TRUE,FALSE,Active +GARD:5668,Active,Orphanet,ORPHA:2118,Disorder,[Disease],Hawkinsinuria,"[4-HPPD deficiency, 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency, 4-hydroxyphenylpyruvic acid dioxygenase deficiency]","Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.",[140350],,,,,Hawkinsinuria,TRUE,FALSE,Active +GARD:5671,Active,Orphanet,ORPHA:243,Disorder,[Malformation syndrome],"46,XX gonadal dysgenesis","[46,XX complete gonadal dysgenesis, 46,XX ovarian dysgenesis, 46,XX pure gonadal dysgenesis, FSH-RO, Follicular stimulating hormone-resistant ovaries, Hypergonadotropic ovarian dysgenesis, XX female gonadal dysgenesis, XX-GD]","46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.","[618723, 300510, 614324, 233300, 618117, 618078]",,,,,"46,XX Gonadal dysgenesis epibulbar dermoid",TRUE,FALSE,Active +GARD:5672,Active,Orphanet,ORPHA:3375,Disorder,[Malformation syndrome],Trisomy X,"[47,XXX syndrome, Triple X syndrome, Triplo-X syndrome, XXX syndrome]","Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).",,,,,,47 XXX syndrome,TRUE,FALSE,Active +GARD:5674,Active,Orphanet,ORPHA:8,Disorder,[Malformation syndrome],"47,XYY syndrome","[Double Y syndrome, XYY syndrome, Y disomy]","A rare sex chromosome aneuploidy where males receive an additional Y chromosome, that is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.",,,,,,"47, XYY syndrome",TRUE,FALSE,Active +GARD:5676,Active,Orphanet,ORPHA:96263,Disorder,[Malformation syndrome],"48,XXXY syndrome",,"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.",,,,,,"48,XXXY syndrome",TRUE,FALSE,Active +GARD:5677,Active,Orphanet,ORPHA:10,Disorder,[Malformation syndrome],"48,XXYY syndrome",,"A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.",,,,,,"48,XXYY syndrome",TRUE,FALSE,Active +GARD:5678,Active,Orphanet,ORPHA:11,Disorder,[Malformation syndrome],Pentasomy X,"[49,XXXXX syndrome, Penta-X, Poly-X]","Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).",,,,,,"49,XXXXX syndrome",TRUE,FALSE,Active +GARD:5679,Active,Orphanet,ORPHA:96264,Disorder,[Malformation syndrome],"49,XXXXY syndrome",,"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.",,,,,,"49, XXXXY syndrome",TRUE,FALSE,Active +GARD:5680,Active,Orphanet,ORPHA:753,Disorder,[Disease],"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency","[46,XY DSD due to 5-alpha-reductase 2 deficiency, Pseudovaginal perineoscrotal hypospadias, Steroid 5-alpha-reductase 2 deficiency]",A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.,[264600],,,,,5-alpha reductase deficiency,TRUE,FALSE,Active +GARD:5681,Active,Orphanet,ORPHA:33572,Disorder,[Disease],5-oxoprolinase deficiency,[Oxoprolinuria due to oxoprolinase deficiency],A very heterogeneous condition characterized by 5-oxoprolinuria.,[260005],,,,,5-oxoprolinase deficiency,TRUE,FALSE,Active +GARD:5682,Active,Orphanet,ORPHA:13,Subtype of disorder,[Clinical subtype],6-pyruvoyl-tetrahydropterin synthase deficiency,[Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency],"6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.",[261640],,,,,6-pyruvoyl-tetrahydropterin synthase deficiency,TRUE,FALSE,Active +GARD:5683,Active,Orphanet,ORPHA:818,Disorder,[Malformation syndrome],Smith-Lemli-Opitz syndrome,"[7-dehydrocholesterol reductase deficiency, RSH syndrome, SLOS]","Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.",[270400],,,,,Smith-Lemli-Opitz syndrome,TRUE,FALSE,Active +GARD:5686,Active,Orphanet,ORPHA:371,Disorder,[Disease],Glycogen storage disease due to muscle phosphofructokinase deficiency,"[GSD due to muscle phosphofructokinase deficiency, GSD type 7, GSD type VII, Glycogen storage disease type 7, Glycogen storage disease type VII, Glycogenosis due to muscle phosphofructokinase deficiency, Glycogenosis type 7, Glycogenosis type VII, Tarui disease]","Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.",[232800],,,,,Glycogen storage disease type 7,TRUE,FALSE,Active +GARD:5688,Active,Orphanet,ORPHA:1777,Disorder,[Malformation syndrome],Temtamy syndrome,"[Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome, Temtamy-Shalash syndrome]","A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.",[218340],,,,,Temtamy syndrome,TRUE,FALSE,Active +GARD:5690,Legacy,GARD,,,,,,,,,,,,Rapp-Hodgkin syndrome,TRUE,FALSE,Retired +GARD:5691,Active,Orphanet,ORPHA:773,Disorder,[Disease],Refsum disease,"[Adult Refsum disease, Classic Refsum disease, HMSN 4, HMSN IV, Hereditary motor and sensory neuropathy type 4, Hereditary motor and sensory neuropathy type IV, Heredopathia atactica polyneuritiformis, Phytanic-CoA hydroxylase deficiency]","A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.","[266500, 614879]",,,,,Refsum disease,TRUE,FALSE,Active +GARD:5692,Active,Orphanet,ORPHA:90797,Disorder,[Disease],Partial androgen insensitivity syndrome,"[PAIS, Partial androgen resistance syndrome]","A disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.",[312300],,,,,Partial androgen insensitivity syndrome,TRUE,FALSE,Active +GARD:5693,Active,Orphanet,ORPHA:29207,Disorder,[Disease],Reactive arthritis,"[Arthritis urethritica, Fiessinger-Leroy disease, Polyarthritis enterica, Venereal arthritis]","A rare spondyloarthritis characterized by acute or chronic sterile synovitis with or without extra-articular manifestations, becoming manifest after an infection.",,,,,,Reactive arthritis,TRUE,FALSE,Active +GARD:5694,Active,Orphanet,ORPHA:791,Disorder,[Disease],Retinitis pigmentosa,,Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.,"[616544, 609923, 617023, 613575, 613750, 604393, 312600, 612095, 613794, 602594, 617781, 615922, 611131, 614181, 613767, 614500, 609913, 180210, 180100, 300155, 613769, 613617, 300605, 601414, 612572, 300424, 180104, 613582, 613809, 608133, 615233, 618173, 613861, 600852, 610282, 400004, 614494, 601718, 613428, 602772, 610359, 606068, 612943, 600138, 612712, 618613, 613801, 600059, 607921, 615725, 600132, 614180, 180105, 300029, 616562, 600105, 268060, 613341, 613464, 268025, 613660, 612165, 604232, 610599, 615565, 615434, 268000, 618955, 618345, 617460, 613758, 613983, 619007, 613810, 616394, 618826, 608380, 618195, 613862, 617433, 613731, 613194, 618697, 616469, 617304, 613581, 312612, 613827, 615780, 617123, 618220, 613756, 616188]",,,,,Retinitis pigmentosa,TRUE,FALSE,Active +GARD:5695,Active,Orphanet,ORPHA:90050,Disorder,[Disease],Retinopathy of prematurity,"[ROP, Retrolental fibroplasia]","A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.",[133780],,,,,Retinopathy of prematurity,TRUE,FALSE,Active +GARD:5696,Active,Orphanet,ORPHA:778,Disorder,[Disease],Rett syndrome,,"A rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression in infancy, partial or complete loss of purposeful hand movements, loss of speech, gait abnormalities, and stereotypic hand movements, commonly associated with deceleration of head growth, severe intellectual disability, seizures, and breathing abnormalities. The disorder has a progressive clinical course and may associate various comorbidities including gastrointestinal diseases, scoliosis, and behavioral disorders.",[312750],,,,,Rett syndrome,TRUE,FALSE,Active +GARD:5697,Active,Orphanet+OMIM,OMIM:228800,Subtype of disorder,[Clinical subtype],"Fibrosclerosis, multifocal","[Mediastinal fibrosis, familial, retroperitoneal fibrosis, familial]","{1:Comings et al. (1967)} reported 2 brothers, offspring of a first-cousin marriage, who had different combinations of retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel sclerosing thyroiditis, and pseudotumor of the orbit. One of the brothers had fibrotic contracture of the fingers. {2:Goldbach et al. (1983)} reported mediastinal and retroperitoneal fibrosis in 2 sisters with seronegative spondylarthropathy. Neither was HLA-B27-positive. {3:Phills et al. (1973)} reported retroperitoneal fibrosis in 3 sibs. {4:Zabetakis et al. (1979)} raised the possibility that retroperitoneal fibrosis is a manifestation of a collagen vascular disease.",[228800],[49041],[IgG4-related retroperitoneal fibrosis],[9568],,Multifocal fibrosclerosis,TRUE,FALSE,Active +GARD:5698,Legacy,GARD,,,,,,,,,,,,Acute respiratory distress syndrome,TRUE,FALSE,Active +GARD:5699,Active,Orphanet,ORPHA:3099,Disorder,[Disease],Rheumatic fever,[Acute rheumatic fever],"Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.",[268240],,,,,Rheumatic Fever,TRUE,FALSE,Active +GARD:5700,Legacy,GARD,,,,,,,,,,,,Rickets,TRUE,FALSE,Active +GARD:5701,Active,Orphanet,ORPHA:782,Disorder,[Malformation syndrome],Axenfeld-Rieger syndrome,"[Axenfeld syndrome, Rieger syndrome]","Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.","[601499, 180500, 602482]",,,,,Axenfeld-Rieger syndrome,TRUE,FALSE,Active +GARD:5706,Legacy,GARD,,,,,,,,,,,,Aberrant subclavian artery,TRUE,FALSE,Active +GARD:5707,Legacy,GARD,,,,,,,,,,,,Absent T lymphocytes,TRUE,FALSE,Retired +GARD:5708,Active,Orphanet,ORPHA:930,Disorder,[Disease],Idiopathic achalasia,"[Achalasia cardia, Idiopathic achalasia of esophagus, Primary achalasia]",Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.,[200400],,,,,Idiopathic achalasia,TRUE,FALSE,Active +GARD:5709,Legacy,GARD,,,,,,,,,,,,Achard Thiers syndrome,TRUE,FALSE,Active +GARD:5714,Active,Orphanet,ORPHA:365,Disorder,[Disease],Glycogen storage disease due to acid maltase deficiency,"[Alpha-1,4-glucosidase acid deficiency, GSD due to acid maltase deficiency, GSD type 2, GSD type II, Glycogen storage disease type 2, Glycogen storage disease type II, Glycogenosis due to acid maltase deficiency, Glycogenosis type 2, Glycogenosis type II, Pompe disease]","A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency.",[232300],,,,,Glycogen storage disease type 2,TRUE,FALSE,Active +GARD:5717,Legacy,GARD,,,,,,,,,,,,Acquired agranulocytosis,TRUE,FALSE,Active +GARD:572,Legacy,GARD,,,,,,,,,,,,Agyria pachygyria polymicrogyria,TRUE,FALSE,Active +GARD:5721,Active,Orphanet,ORPHA:36,Disorder,[Malformation syndrome],Acrocallosal syndrome,[ACS],"A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.",[200990],,,,,"Acrocallosal syndrome, Schinzel type",TRUE,FALSE,Active +GARD:5722,Legacy,GARD,,,,,,,,,,,,Acrodermatitis,TRUE,FALSE,Active +GARD:5723,Active,Orphanet,ORPHA:37,Disorder,[Disease],Acrodermatitis enteropathica,"[AEZ, Acrodermatitis enteropathica, zinc deficiency type, Inherited zinc deficiency]","A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.",[201100],,,,,Acrodermatitis enteropathica,TRUE,FALSE,Active +GARD:5724,Active,Orphanet,ORPHA:950,Disorder,[Malformation syndrome],Acrodysostosis,"[Acrodysplasia, Arkless-Graham syndrome, Maroteaux-Malamut syndrome]","An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.","[614613, 101800]",,,,,Acrodysostosis,TRUE,FALSE,Active +GARD:5725,Active,Orphanet,ORPHA:963,Disorder,[Disease],Acromegaly,,A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.,"[300943, 102200]",,,,,Acromegaly,TRUE,FALSE,Active +GARD:5726,Legacy,GARD,,,,,,,,,,,,Acrospiroma,TRUE,FALSE,Active +GARD:5727,Active,Orphanet,ORPHA:199296,Disorder,[Disease],Congenital isolated ACTH deficiency,,"A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.",[201400],,,,,Isolated ACTH deficiency,TRUE,FALSE,Active +GARD:5728,Active,Orphanet,ORPHA:457095,Disorder,[Disease],Actinomycosis,,"A rare bacterial infectious disease characterized by a chronic granulomatous infection by Actinomyces species which are commensals in the human gastrointestinal and urogenital tract and oropharynx. Corresponding to the affected site, the disease presents as cervicofacial, respiratory tract, genitourinary tract, digestive tract, central nervous system, or cutaneous actinomycosis and leads to the formation of abscesses and fistulae in the respective region.",,,,,,Actinomycosis,TRUE,FALSE,Active +GARD:573,Legacy,GARD,,,,,,,,,,,,Agyria-pachygyria type 1,TRUE,FALSE,Active +GARD:5730,Legacy,GARD,,,,,,,,,,,,Acute mountain sickness,TRUE,FALSE,Active +GARD:5732,Active,Orphanet,ORPHA:79276,Disorder,[Disease],Acute intermittent porphyria,,"A rare, severe form of the acute hepatic porphyrias characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.",[176000],,,,,Acute intermittent porphyria,TRUE,FALSE,Active +GARD:5734,Legacy,GARD,,,,,,,,,,,,Acute myelocytic leukemia,TRUE,FALSE,Retired +GARD:5736,Legacy,GARD,,,,,,,,,,,,Acute necrotizing ulcerative gingivitis,TRUE,FALSE,Active +GARD:5739,Active,Orphanet,ORPHA:974,Disorder,[Malformation syndrome],Adams-Oliver syndrome,"[AOS, Congenital scalp defects with distal limb anomalies, Congenital scalp defects with distal limb reduction anomalies, Limb, scalp and skull defects]","A rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.","[616028, 615297, 616589, 100300, 614814, 614219]",,,,,Adams-Oliver syndrome,TRUE,FALSE,Active +GARD:5740,Active,Orphanet,ORPHA:85138,Disorder,[Disease],Addison disease,"[Autoimmune Addison disease, Autoimmune adrenalitis, Classic Addison disease, Primary Addison disease]","A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).","[240200, 103230]",,,,,Addison's disease,TRUE,FALSE,Active +GARD:5741,Legacy,GARD,,,,,,,,,,,,Adenocarcinoid tumor,TRUE,FALSE,Active +GARD:5742,Legacy,GARD,,,,,,,,,,,,Lung adenocarcinoma,TRUE,FALSE,Active +GARD:5743,Legacy,GARD,,,,,,,,,,,,Adenoid cystic carcinoma,TRUE,FALSE,Active +GARD:5745,Legacy,GARD,,,,,,,,,,,,Adenoma of the adrenal gland,TRUE,FALSE,Active +GARD:5747,Active,Orphanet,ORPHA:314419,Disorder,[Disease],Ameloblastoma,,"A rare, benign, slow-growing odontologic tumor located in the mandible, and on occasion the maxilla, characterized by painless, variable-sized jaw swelling, which if left untreated may lead to a grotesque facial appearance. Occasionally, paresthesias, tooth displacement and adjacent root resorption may be associated. Local invasion is frequently observed, but malignant transformation and metastasis are not common.",,,,,,Ameloblastoma,TRUE,FALSE,Active +GARD:5748,Active,Orphanet,ORPHA:277,Disorder,[Disease],Severe combined immunodeficiency due to adenosine deaminase deficiency,"[ADA deficiency, SCID due to adenosine deaminase deficiency]",Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.,[102700],,,,,Adenosine deaminase deficiency,TRUE,FALSE,Active +GARD:5749,Active,Orphanet,ORPHA:454718,Disorder,[Disease],Holmes-Adie syndrome,"[Adie syndrome, Tonic pupil-tendon areflexia syndrome]","A rare ophthalmic disorder characterized by the unilateral or bilateral occurrence of a tonic pupil (showing sectorial denervation of the sphincter pupillae, so that the pupil constricts poorly to light, while the response to near is present but abnormally prolonged), in association with the absence of deep tendon reflexes. In some patients, patchy hypo- or anhidrosis may also be present (a variant known as Ross syndrome). The condition typically occurs in young adults, with a female preponderance.",[103100],,,,,Adie syndrome,TRUE,FALSE,Active +GARD:575,Active,Orphanet,ORPHA:51,Disorder,[Disease],Aicardi-Goutières syndrome,"[Encephalopathy with basal ganglia calcification, Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid]","An inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.","[610333, 610181, 225750, 114100, 612952, 615010, 615846, 610329]",,,,,Aicardi-Goutieres syndrome,TRUE,FALSE,Active +GARD:5750,Active,Orphanet,ORPHA:36397,Disorder,[Disease],Adiposis dolorosa,"[Adiposalgia, Adipose tissue rheumatism, Dercum disease, Lipomatosis dolorosa]","A rare disorder of subcutaneous tissue characterized by the development of painful, adipose tissue with multiple subcutaneous lipomas, in association with overweight or obesity.",[103200],,,,,Adiposis dolorosa,TRUE,FALSE,Active +GARD:5751,Legacy,GARD,,,,,,,,,,,,Adrenal cancer,TRUE,FALSE,Active +GARD:5755,Legacy,GARD,,,,,,,,,,,,Adrenal medulla cancer,TRUE,FALSE,Active +GARD:5757,Legacy,GARD,,,,,,,,,,,,21-hydroxylase deficiency,TRUE,FALSE,Active +GARD:5758,Active,Orphanet,ORPHA:43,Disorder,[Disease],X-linked adrenoleukodystrophy,"[ALD, X-ALD, X-linked ALD]","A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy.","[300100, 302700]",,,,,X-linked adrenoleukodystrophy ,TRUE,FALSE,Active +GARD:5761,Active,Orphanet,ORPHA:98880,Subtype of disorder,[Clinical subtype],Familial afibrinogenemia,,Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.,[202400],,,,,Afibrinogenemia,TRUE,FALSE,Active +GARD:5763,Legacy,GARD,,,,,,,,,,,,Ahumada Del Castillo syndrome,TRUE,FALSE,Active +GARD:5764,Active,Orphanet,ORPHA:50,Disorder,[Disease],Aicardi syndrome,[Agenesis of corpus callosum with chorioretinal abnormality],"A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females.",[304050],,,,,Aicardi syndrome,TRUE,FALSE,Active +GARD:5765,Legacy,GARD,,,,,,,,,,,,AIDS dysmorphic syndrome,TRUE,FALSE,Active +GARD:5768,Legacy,GARD,,,,,,,,,,,,Albinism,TRUE,FALSE,Active +GARD:577,Legacy,GARD,,,,,,,,,,,,Akaba Hayasaka syndrome,TRUE,FALSE,Active +GARD:5770,Active,Orphanet,ORPHA:457059,Group of disorders,[Clinical group],Pseudohypoparathyroidism with Albright hereditary osteodystrophy,,,,,,,,Albright's hereditary osteodystrophy,TRUE,FALSE,Active +GARD:5774,Active,Orphanet,ORPHA:58,Disorder,[Disease],Alexander disease,[AxD],"A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.",[203450],,,,,Alexander disease,TRUE,FALSE,Active +GARD:5775,Active,Orphanet,ORPHA:56,Disorder,[Disease],Alkaptonuria,"[Hereditary ochronosis, Homogentisic acid oxidase deficiency]","A rare disorder of phenylalanine and tyrosine metabolism characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).",[203500],,,,,Alkaptonuria,TRUE,FALSE,Active +GARD:5776,Legacy,GARD,,,,,,,,,,,,Allergic angiitis,TRUE,FALSE,Active +GARD:5777,Legacy,GARD,,,,,,,,,,,,Allergic autoimmune thyroiditis,TRUE,FALSE,Retired +GARD:5779,Legacy,GARD,,,,,,,,,,,,Allergic encephalomyelitis,TRUE,FALSE,Active +GARD:578,Legacy,GARD,,,,,,,,,,,,Akesson syndrome,TRUE,FALSE,Active +GARD:5782,Legacy,GARD,,,,,,,,,,,,Alopecia areata,FALSE,FALSE,Active +GARD:5783,Active,Orphanet,ORPHA:726,Disorder,[Disease],Alpers-Huttenlocher syndrome,"[Alpers progressive sclerosing poliodystrophy, Alpers syndrome, Progressive neuronal degeneration of childhood with liver disease]","A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.",[203700],,,,,Alpers syndrome,TRUE,FALSE,Active +GARD:5784,Active,Orphanet,ORPHA:60,Disorder,[Disease],Alpha-1-antitrypsin deficiency,"[Alpha-1-proteinase inhibitor deficiency, Alpha1-antitrypsin deficiency]","A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis.",[613490],,,,,Alpha-1 antitrypsin deficiency,TRUE,FALSE,Active +GARD:5785,Active,Orphanet,ORPHA:63,Disorder,[Disease],Alport syndrome,"[Alport deafness-nephropathy, Alport hearing loss-nephropathy]","A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.","[301050, 104200, 203780]",,,,,Alport syndrome,TRUE,FALSE,Active +GARD:5786,Active,Orphanet,ORPHA:803,Disorder,[Disease],Amyotrophic lateral sclerosis,"[ALS, Charcot disease, Lou Gehrig disease]","A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.","[615426, 205250, 606070, 105400, 615515, 608030, 613954, 616437, 608031, 608627, 600795, 617839, 611895, 300857, 612069, 612577, 619133, 617892, 606640, 613435, 619141, 614808, 616208]",,,,,Amyotrophic lateral sclerosis,TRUE,FALSE,Active +GARD:5787,Active,Orphanet,ORPHA:64,Disorder,[Disease],Alström syndrome,,"A rare multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.",[203800],,,,,Alström syndrome,TRUE,FALSE,Active +GARD:579,Legacy,GARD,,,,,,,,,,,,Aksu von Stockhausen syndrome,TRUE,FALSE,Active +GARD:5791,Active,Orphanet,ORPHA:88661,Disorder,[Disease],Amelogenesis imperfecta,,"A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.","[612529, 130900, 614832, 616270, 204700, 104500, 104530, 204650, 616221, 615887, 617217, 104510, 301200, 613211, 301201]",,,,,Amelogenesis imperfecta,TRUE,FALSE,Active +GARD:5793,Legacy,GARD,,,,,,,,,,,,Aminoacidopathies,FALSE,FALSE,Active +GARD:5794,Legacy,GARD,,,,,,,,,,,,Aminoaciduria,TRUE,FALSE,Active +GARD:5797,Active,Orphanet,ORPHA:85443,Disorder,[Disease],AL amyloidosis,"[Light-chain amyloidosis, Primary amyloidosis]","A clonal B-cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains. It usually presents as systemic AL amyloidosis with involvement of one or more parenchymal organ(s) and, less frequently, as localized amyloidosis with usually nodular deposits restricted to a single organ and/or system.",[254500],,,,,AL amyloidosis,TRUE,FALSE,Active +GARD:5798,Legacy,GARD,,,,,,,,,,,,Amyotonia congenita,TRUE,FALSE,Active +GARD:5802,Active,Orphanet,ORPHA:90652,Disorder,[Malformation syndrome],Otopalatodigital syndrome type 2,"[OPD II syndrome, OPD syndrome 2]","A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.",[304120],,,,,Oto-palato-digital syndrome type 2,TRUE,FALSE,Active +GARD:5803,Active,Orphanet,ORPHA:754,Group of disorders,[Clinical group],Androgen insensitivity syndrome,"[AIS, Androgen resistance syndrome, Goldberg-Maxwell syndrome, Morris syndrome, Testicular feminization syndrome]","A disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).",,,,,,Androgen insensitivity syndrome,TRUE,FALSE,Active +GARD:5808,Active,Orphanet,ORPHA:1048,Disorder,[Morphological anomaly],Isolated anencephaly/exencephaly,,"A neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.",[206500],,,,,Anencephaly,TRUE,FALSE,Active +GARD:581,Legacy,GARD,,,,,,,,,,,,Asrar Facharzt Haque syndrome,TRUE,FALSE,Active +GARD:5810,Active,Orphanet,ORPHA:72,Disorder,[Malformation syndrome],Angelman syndrome,,A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.,[105830],,,,,Angelman syndrome,TRUE,FALSE,Active +GARD:5811,Legacy,GARD,,,,,,,,,,,,Angioimmunoblastic lymphadenopathy with dysproteinemia,TRUE,FALSE,Active +GARD:5813,Legacy,GARD,,,,,,,,,,,,Angiosarcoma of the liver,TRUE,FALSE,Active +GARD:5814,Legacy,GARD,,,,,,,,,,,,Angiosarcoma of the scalp,TRUE,FALSE,Active +GARD:5816,Active,Orphanet,ORPHA:250923,Disorder,[Morphological anomaly],Isolated aniridia,,Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.,"[617141, 106210, 617142]",,,,,Aniridia,TRUE,FALSE,Active +GARD:5818,Active,Orphanet,ORPHA:99797,Disorder,[Morphological anomaly],Anodontia,,An extreme developmental dental anomaly characterized by the complete absence of all teeth.,[206780],,,,,Anodontia,TRUE,FALSE,Active +GARD:5819,Active,Orphanet,ORPHA:325124,Disorder,[Morphological anomaly],Testicular agenesis,[Bilateral anorchia],"A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise normal male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG administration. The GnRH stimulation test induces a prolonged increase in FSH and LH levels.",,,,,,Anorchia,TRUE,FALSE,Active +GARD:5824,Active,Orphanet,ORPHA:80,Disorder,[Disease],Antiphospholipid syndrome,"[APLS, Antiphospholipid antibody syndrome, Classic APLS, Classic antiphospholipid syndrome, Hughes syndrome]",,,,,,,Antiphospholipid syndrome,TRUE,FALSE,Active +GARD:5826,Active,Orphanet,ORPHA:83,Disorder,[Malformation syndrome],Antley-Bixler syndrome,,"A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.",[207410],,,,,Antley Bixler syndrome,TRUE,FALSE,Active +GARD:5828,Active,Orphanet,ORPHA:1457,Disorder,[Morphological anomaly],Aorta coarctation,,,[120000],,,,,Aortic coarctation,TRUE,FALSE,Active +GARD:583,Active,Orphanet,ORPHA:2865,Disorder,[Malformation syndrome],Short stature-webbed neck-heart disease syndrome,[Al Gazali-Aziz-Salem syndrome],"Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.",,,,,,Al Gazali Aziz Salem syndrome,TRUE,FALSE,Active +GARD:5830,Legacy,GARD,,,,,,,,,,,,Aortic valve stenosis,TRUE,FALSE,Active +GARD:5833,Active,Orphanet,ORPHA:87,Disorder,[Malformation syndrome],Apert syndrome,"[ACS1, Acrocephalosyndactyly type 1]","A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.",[101200],,,,,Apert syndrome,TRUE,FALSE,Active +GARD:5834,Legacy,GARD,,,,,,,,,,,,Aphthous stomatitis,TRUE,FALSE,Active +GARD:5835,Active,Orphanet,ORPHA:1114,Disorder,[Malformation syndrome],Aplasia cutis congenita,,"A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies.","[600360, 107600]",,,,,Aplasia cutis congenita,TRUE,FALSE,Active +GARD:5836,Active,Orphanet,ORPHA:88,Disorder,[Disease],Idiopathic aplastic anemia,[Idiopathic bone marrow failure],,"[614742, 609135, 614743]",,,,,Aplastic anemia,TRUE,FALSE,Active +GARD:5838,Legacy,GARD,,,,,,,,,,,,Apraxia,TRUE,FALSE,Active +GARD:5839,Active,Orphanet,ORPHA:137817,Disorder,[Disease],Arachnoiditis,"[Adhesive arachnoiditis, Chronic arachnoiditis]","A chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.",[182950],,,,,Arachnoiditis,TRUE,FALSE,Active +GARD:584,Active,Orphanet,ORPHA:2153,Disorder,[Malformation syndrome],Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,[Al Gazali-Donnai-Muller syndrome],"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.",[235760],,,,,Al-Gazali-Donnai-Mueller syndrome,TRUE,FALSE,Active +GARD:5840,Active,Orphanet,ORPHA:90,Disorder,[Disease],Argininemia,"[Arginase deficiency, Hyperargininemia]","A rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.",[207800],,,,,Arginase deficiency,TRUE,FALSE,Active +GARD:5843,Active,Orphanet,ORPHA:23,Disorder,[Disease],Argininosuccinic aciduria,"[ASA deficiency, ASL deficiency, Argininosuccinase deficiency, Argininosuccinatelyase deficiency, Argininosuccinic acid lyase deficiency]","A rare, genetic disorder of urea cycle metabolism typically characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms that manifest with stress- or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities, or chronic liver disease. Patients often manifest liver dysfunction.",[207900],,,,,Argininosuccinic aciduria,TRUE,FALSE,Active +GARD:5845,Legacy,GARD,,,,,,,,,,,,Chiari malformation,FALSE,FALSE,Active +GARD:5847,Active,Orphanet,ORPHA:247,Group of disorders,[Clinical group],Arrhythmogenic right ventricular cardiomyopathy,"[ARVC, ARVD, Arrhythmogenic right ventricular dysplasia]","A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.",,,,,,Arrhythmogenic right ventricular cardiomyopathy,TRUE,FALSE,Active +GARD:5852,Active,Orphanet,ORPHA:2302,Disorder,[Disease],Asbestos intoxication,[Asbestosis],"A rare pneumoconiosis caused by exposure to asbestos particles. Symptoms may appear many years after exposure and include progressive dyspnea on exertion, dry cough, chest pain, tightness, inspiratory crackles, clubbing of the fingers. Later complications include mesothelioma and lung cancers.",,,,,,Asbestosis,TRUE,FALSE,Active +GARD:5853,Active,Orphanet,ORPHA:137686,Disorder,[Disease],Asherman syndrome,,"A rare, acquired uterine disease characterized by intrauterine adhesions associated with a history of curettage or intrauterine surgery and gynecological symptoms (secondary amenorrhea, hypomenorrhea, pelvic pain, infertility or pregnancy loss).",,,,,,Asherman's syndrome,TRUE,FALSE,Active +GARD:5854,Active,Orphanet,ORPHA:93,Disorder,[Disease],Aspartylglucosaminuria,[Aspartylglucosaminidase deficiency],An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).,[208400],,,,,Aspartylglycosaminuria,TRUE,FALSE,Active +GARD:5855,Legacy,GARD,,,,,,,,,,,,Asperger syndrome,FALSE,FALSE,Active +GARD:5856,Active,Orphanet,ORPHA:1163,Disorder,[Disease],Aspergillosis,,"A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.",[614079],,,,,Aspergillosis,TRUE,FALSE,Active +GARD:5857,Legacy,GARD,,,,,,,,,,,,Asphyxia neonatorum,TRUE,FALSE,Active +GARD:586,Legacy,GARD,,,,,,,,,,,,Al Gazali Khidr Prem Chandran syndrome,TRUE,FALSE,Active +GARD:5860,Active,Orphanet,ORPHA:251589,Disorder,[Disease],Anaplastic astrocytoma,,"A rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.",,,,,,Anaplastic astrocytoma,TRUE,FALSE,Active +GARD:5862,Active,Orphanet,ORPHA:100,Disorder,[Disease],Ataxia-telangiectasia,[Louis-Bar syndrome],"A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer.","[208900, 208910]",,,,,Ataxia telangiectasia,TRUE,FALSE,Active +GARD:5863,Legacy,GARD,,,,,,,,,,,,Athetosis,TRUE,FALSE,Active +GARD:5864,Active,Orphanet,ORPHA:847,Disorder,[Malformation syndrome],Alpha-thalassemia-X-linked intellectual disability syndrome,[ATR-X syndrome],"A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia.","[309580, 301040]",,,,,Alpha-thalassemia x-linked intellectual disability syndrome,TRUE,FALSE,Active +GARD:5865,Active,Orphanet,ORPHA:99103,Subtype of disorder,[Clinical subtype],"Atrial septal defect, ostium secundum type","[ASD, ostium secundum type]",,"[614430, 611363, 614089]",,,,,Ostium secundum atrial septal defect,TRUE,FALSE,Active +GARD:5866,Legacy,GARD,,,,,,,,,,,,Atrophoderma of Pasini and Pierini,TRUE,FALSE,Active +GARD:5867,Active,Orphanet,ORPHA:79088,Group of disorders,[Clinical group],Localized lipodystrophy,,"A rare group of acquired lipodystrophies that are characterized by loss of subcutaneous tissue from generally small regions of the body, either single or multiple areas, and are not typically associated with metabolic complications. Some cases may involve lipohypertrophy (insulin). This group includes pressure-induced localized lipoatrophy, drug-induced localized lipodystrophy, panniculitis- induced localized lipodystrophy, centrifugal lipodystrophy, and idiopathic localized lipodystrophy.",,,,,,Localized lipodystrophy,TRUE,FALSE,Active +GARD:587,Active,Orphanet,ORPHA:2773,Disorder,[Malformation syndrome],Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,[Al Gazali-Nair syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.",,,,,,Al Gazali Sabrinathan Nair syndrome,TRUE,FALSE,Active +GARD:5870,Active,Orphanet,ORPHA:98375,Group of disorders,[Clinical group],Autoimmune hemolytic anemia,"[AHA, AIHA]","A rare, autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.",,,,,,Autoimmune hemolytic anemia,TRUE,FALSE,Active +GARD:5871,Active,Orphanet,ORPHA:2137,Disorder,[Disease],Autoimmune hepatitis,[AIH],"A rare liver disease characterized by immune-mediated, acute or chronic liver inflammation, clinically presenting as cryptogenic hepatitis, with interface hepatitis on histological examination, elevated serum aminotransferase levels, and hypergammaglobulinemia / elevated immunoglobulin G, in the presence or absence of specific circulating autoantibodies. Patients may be asymptomatic, chronically ill, or present with acute liver failure. Concurrent autoimmune diseases are frequently observed.",,,,,,Autoimmune hepatitis,TRUE,FALSE,Active +GARD:5877,Legacy,GARD,,,,,,,,,,,,B-cell lymphoma,TRUE,FALSE,Active +GARD:5878,Active,Orphanet,ORPHA:108,Disorder,[Disease],Babesiosis,,Babesiosis is an infectious disease caused by protozoa of the genus Babesia and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.,,,,,,Babesiosis,TRUE,FALSE,Active +GARD:588,Active,Orphanet,ORPHA:2007,Disorder,[Malformation syndrome],Alar cartilages hypoplasia-coloboma-telecanthus syndrome,,A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.,[203000],,,,,Coloboma of alar-nasal cartilages with telecanthus,TRUE,FALSE,Active +GARD:5881,Legacy,GARD,,,,,,,,,,,,Bacterial meningitis,TRUE,FALSE,Active +GARD:5885,Active,Orphanet,ORPHA:228165,Disorder,[Disease],Baló concentric sclerosis,[Concentric demyelination],"A rare multiple sclerosis variant characterized by discrete concentrically layered, ring-like lesions in the cerebral white matter, consisting of alternating layers of myelinated and demyelinated tissue. Patients most commonly present with symptoms of an intracerebral mass lesion, including headache, cognitive abnormalities, behavioral changes, seizures, aphasia, or hemiparesis, among others, although there may also be classic focal symptoms of multiple sclerosis, such as focal weakness, ataxia, sensory disturbance, or diplopia.",,,,,,Tumefactive multiple sclerosis,TRUE,FALSE,Active +GARD:5887,Active,Orphanet,ORPHA:109,Disorder,[Malformation syndrome],Bannayan-Riley-Ruvalcaba syndrome,"[BRRS, Myhre-Riley-Smith syndrome]","A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.",[158350],,,,,Bannayan-Riley-Ruvalcaba syndrome,TRUE,FALSE,Active +GARD:5888,Legacy,GARD,,,,,,,,,,,,Banti's syndrome,TRUE,FALSE,Active +GARD:589,Active,Orphanet,ORPHA:998,Disorder,[Malformation syndrome],Albinism-deafness syndrome,[Albinism-hearing loss syndrome],"A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.",[300700],,,,,Albinism deafness syndrome,TRUE,FALSE,Active +GARD:5890,Active,Orphanet,ORPHA:111,Disorder,[Disease],Barth syndrome,"[3-methylglutaconic aciduria type 2, BTHS, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, Cardioskeletal myopathy-neutropenia syndrome, MGA2, X-linked cardioskeletal myopathy and neutropenia]","Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.",[302060],,,,,Barth syndrome,TRUE,FALSE,Active +GARD:5893,Active,Orphanet,ORPHA:112,Disorder,[Disease],Bartter syndrome,"[Renal tubular normotensive hypokalemic alkalosis with hypercalciuria, Salt-losing tubular disorder, Henle's loop type, Salt-wasting tubulopathy, Henle's loop type]","Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.","[602522, 607364, 601198, 300971, 601678, 613090, 241200]",,,,,Bartter syndrome,TRUE,FALSE,Active +GARD:5896,Legacy,GARD,,,,,,,,,,,,Migraine with brainstem aura,TRUE,FALSE,Active +GARD:5897,Active,Orphanet,ORPHA:228346,Subtype of disorder,[Etiological subtype],CLN3 disease,"[Classic juvenile NCL, Classic juvenile neuronal ceroid lipofuscinosis]",,[204200],,,,,Neuronal ceroid lipofuscinosis 3,TRUE,FALSE,Active +GARD:5898,Active,Orphanet,ORPHA:97245,Group of disorders,[Category],Congenital myopathy,,,,,,,,Myopathy congenital,TRUE,FALSE,Active +GARD:5899,Active,Orphanet,ORPHA:115,Disorder,[Malformation syndrome],Congenital contractural arachnodactyly,"[Beals syndrome, Beals-Hecht syndrome, CCA syndrome, Distal arthrogryposis type 9]","Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.",[121050],,,,,Congenital contractural arachnodactyly,TRUE,FALSE,Active +GARD:59,Active,Orphanet,ORPHA:1955,Disorder,[Disease],Spinocerebellar ataxia type 34,"[Erythrokeratodermia with ataxia, SCA34, Spinocerebellar ataxia and erythrokeratodermia]","An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.",[133190],,,,,Spinocerebellar ataxia 34,TRUE,FALSE,Active +GARD:590,Legacy,GARD,,,,,,,,,,,,Albinism immunodeficiency,TRUE,FALSE,Retired +GARD:5900,Active,Orphanet,ORPHA:98895,Disorder,[Disease],Becker muscular dystrophy,"[BMD, Becker dystrophinopathy]","A rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.","[300376, 159050]",,,,,Becker muscular dystrophy,TRUE,FALSE,Active +GARD:5901,Legacy,GARD,,,,,,,,,,,,Becker's nevus,TRUE,FALSE,Active +GARD:5905,Legacy,GARD,,,,,,,,,,,,Bejel,TRUE,FALSE,Active +GARD:5906,Legacy,GARD,,,,,,,,,,,,Bell's palsy,TRUE,FALSE,Active +GARD:5907,Active,Orphanet,ORPHA:251595,Disorder,[Disease],Diffuse astrocytoma,,"A rare low-grade astrocytoma characterized by a high degree of cellular differentiation, slow growth, and diffuse infiltration of adjacent brain structures, and corresponding to WHO grade II. The tumor typically affects young adults and has an intrinsic tendency for progression to high-grade glioma. Histological variants are fibrillary, gemistocytic, and protoplasmic astrocytoma. Patients most commonly present with seizures, but also with other neurological or neuropsychological abnormalities, depending on the location.",,,,,,Diffuse astrocytoma,TRUE,FALSE,Active +GARD:5909,Legacy,GARD,,,,,,,,,,,,Benign essential blepharospasm,TRUE,FALSE,Active +GARD:5910,Legacy,GARD,,,,,,,,,,,,Essential tremor,FALSE,FALSE,Active +GARD:5911,Legacy,GARD,,,,,,,,,,,,Thin basement membrane nephropathy,FALSE,FALSE,Active +GARD:5913,Active,Orphanet,ORPHA:46486,Disorder,[Disease],Mucous membrane pemphigoid,"[Cicatricial pemphigoid, Mucosal pemphigoid, Mucosynechial pemphigoid]","A rare autoimmune bullous skin disease characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically characterized by IgG, IgA and/or C3 deposits on the epidermal basement membrane. The disease principally involves the oral mucosa, but may also affect ocular, pharyngolaryngeal, genital, and esophageal mucous membranes.",[164185],,,,,Mucous membrane pemphigoid,TRUE,FALSE,Active +GARD:5915,Legacy,GARD,,,,,,,,,,,,Benign paroxysmal positional vertigo,TRUE,FALSE,Active +GARD:5918,Legacy,GARD,,,,,,,,,,,,Beta-galactosidase-1 deficiency,TRUE,FALSE,Active +GARD:592,Active,Orphanet,ORPHA:1000,Disorder,[Disease],Ocular albinism with late-onset sensorineural deafness,[Ocular albinism with late-onset sensorineural hearing loss],"Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.",[300650],,,,,Albinism ocular late onset sensorineural deafness,TRUE,FALSE,Active +GARD:5921,Legacy,GARD,,,,,,,,,,,,Potter syndrome type 4,TRUE,FALSE,Retired +GARD:5924,Legacy,GARD,,,,,,,,,,,,Biliary tract cancer,TRUE,FALSE,Active +GARD:5925,Legacy,GARD,,,,,,,,,,,,Binswanger's disease,TRUE,FALSE,Active +GARD:5926,Active,Orphanet,ORPHA:179,Disorder,[Disease],Birdshot chorioretinopathy,"[Birdshot chorioretinitis, Birdshot retinochoroiditis, Birdshot retinochoroidopathy, Vitiliginous choroiditis]","Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.",[605808],,,,,Birdshot chorioretinopathy,TRUE,FALSE,Active +GARD:5930,Legacy,GARD,,,,,,,,,,,,Blastoma,TRUE,FALSE,Retired +GARD:5931,Legacy,GARD,,,,,,,,,,,,Blastomycosis,TRUE,FALSE,Active +GARD:5932,Legacy,GARD,,,,,,,,,,,,Blepharophimosis,TRUE,FALSE,Active +GARD:5939,Active,Orphanet,ORPHA:94086,Disorder,[Disease],Blue diaper syndrome,"[Drummond syndrome, Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome]",Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.,[211000],,,,,Blue diaper syndrome,TRUE,FALSE,Active +GARD:594,Active,Orphanet,ORPHA:79434,Subtype of disorder,[Clinical subtype],Oculocutaneous albinism type 1B,"[OCA1B, Oculocutaneous albinism, Amish type, Platinum oculocutaneous albinism, Yellow oculocutaneous albinism]","A form of oculocutaneous albinism type 1 (OCA1) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.",[606952],,,,,Oculocutaneous albinism type 1B,TRUE,FALSE,Active +GARD:5940,Active,Orphanet,ORPHA:1059,Disorder,[Malformation syndrome],Blue rubber bleb nevus,"[BRBN, Bean syndrome]","A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.",[112200],,,,,Blue rubber bleb nevus syndrome,TRUE,FALSE,Active +GARD:5943,Legacy,GARD,,,,,,,,,,,,Bone cancer,FALSE,FALSE,Draft +GARD:5948,Legacy,GARD,,,,,,,,,,,,Bowen's disease,TRUE,FALSE,Active +GARD:5950,Active,Orphanet,ORPHA:1270,Disorder,[Malformation syndrome],Bowen-Conradi syndrome,"[Bowen syndrome, Hutterite type]","A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.",[211180],,,,,Bowen-Conradi syndrome,TRUE,FALSE,Active +GARD:5951,Legacy,GARD,,,,,,,,,,,,Bowenoid papulosis,TRUE,FALSE,Active +GARD:596,Legacy,GARD,,,,,,,,,,,,Albright like syndrome,TRUE,FALSE,Active +GARD:5961,Active,Orphanet,ORPHA:1303,Disorder,[Disease],Bronchiolitis obliterans with obstructive pulmonary disease,"[Constrictive bronchiolitis, Obliterative bronchiolitis]",A rare lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.,,,,,,Bronchiolitis obliterans organizing pneumonia,TRUE,FALSE,Active +GARD:5962,Active,Orphanet,ORPHA:70589,Disorder,[Malformation syndrome],Bronchopulmonary dysplasia,[BPD],"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.",,,,,,Bronchopulmonary dysplasia,TRUE,FALSE,Active +GARD:5963,Legacy,GARD,,,,,,,,,,,,Brown syndrome,TRUE,FALSE,Active +GARD:5964,Legacy,GARD,,,,,,,,,,,,Brown-Sequard syndrome,TRUE,FALSE,Active +GARD:5966,Active,Orphanet,ORPHA:1304,Disorder,[Disease],Brucellosis,,"Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus Brucella transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis.",,,,,,Brucellosis,TRUE,FALSE,Active +GARD:5968,Active,Orphanet,ORPHA:131,Disorder,[Disease],Budd-Chiari syndrome,,A rare vascular liver disease characterized by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.,[600880],,,,,Budd-Chiari syndrome,TRUE,FALSE,Active +GARD:5969,Active,Orphanet,ORPHA:36258,Disorder,[Disease],Buerger disease,[Thromboangiitis obliterans],"A rare inflammatory, non-necrotizing, non-atherosclerotic, occlusive vascular disease characterized by thrombosis and recanalization affecting small and medium sized arteries and veins of upper and lower extremities.",[211480],,,,,Buerger disease,TRUE,FALSE,Active +GARD:5972,Active,Orphanet,ORPHA:703,Disorder,[Disease],Bullous pemphigoid,,"A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission.",,,,,,Bullous pemphigoid,TRUE,FALSE,Active +GARD:5973,Active,Orphanet,ORPHA:543,Disorder,[Disease],Burkitt lymphoma,[Small non-cleaved cell lymphoma],Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.,[113970],,,,,Burkitt lymphoma,TRUE,FALSE,Active +GARD:5974,Active,Orphanet,ORPHA:353253,Disorder,[Disease],Burning mouth syndrome,"[BMS, Oral dysesthesia, Orodynia, Stomatodynia, Stomatopyrosis]","A rare neurologic disease characterized by an unremitting bilateral symmetrical burning sensation of the oral mucosa without clinical evidence of causative lesions. It most frequently occurs in postmenopausal women and typically affects the tongue, less often the palate, lips, or buccal mucosa. It is often associated with dysgeusia and xerostomia.",,,,,,Burning mouth syndrome,FALSE,FALSE,Active +GARD:5975,Active,Orphanet,ORPHA:352763,Disorder,[Disease],Scleredema,[Buschke scleredema],"A rare acquired skin disease characterized by excessive mucin deposition and thickened collagen bundles in the dermis, resulting in woody, non-pitting induration of the skin of the neck, spreading to the shoulders and upper trunk, but sparing hands and feet. According to the association with preceding or underlying conditions, three types can be distinguished: type 1 usually follows a febrile infection, type 2 is associated with paraproteinemia, and type 3 occurs in patients with diabetes mellitus. Especially in types 2 and 3, extracutaneous involvement may be present. Other potentially associated conditions include a variety of endocrinopathies, systemic diseases, and neoplasms.",,,,,,Scleredema,TRUE,FALSE,Active +GARD:5976,Legacy,GARD,,,,,,,,,,,,Byssinosis,TRUE,FALSE,Active +GARD:5978,Active,Orphanet,ORPHA:1308,Disorder,[Malformation syndrome],C syndrome,"[OTCS, Opitz C trigonocephaly, Opitz trigonocephaly C syndrome, Opitz trigonocephaly syndrome, Trigonocephaly C syndrome]","C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.",[211750],,,,,C syndrome,TRUE,FALSE,Active +GARD:5979,Active,Orphanet,ORPHA:91378,Group of disorders,[Clinical group],Hereditary angioedema,"[Familial angioneurotic edema, HAE, Hereditary angioneurotic edema, Hereditary bradykinine-induced angioedema, Hereditary non histamine-induced angioedema]",Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.,"[106100, 610618]",,,,,Hereditary angioedema,TRUE,FALSE,Active +GARD:5980,Active,Orphanet,ORPHA:280062,Disorder,[Disease],Calciphylaxis,,A rare vascular calcification disorder typically characterized by occlusion of microvessels in the cutaneous tissue resulting in painful cutaneous lesions. The disorder is often life-limiting.,,,,,,Calciphylaxis,TRUE,FALSE,Active +GARD:5984,Active,Orphanet,ORPHA:141,Disorder,[Disease],Canavan disease,"[ACY2 deficiency, Aminoacylase 2 deficiency, Aspartoacylase deficiency, Spongy degeneration of the brain]","Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.",[271900],,,,,Canavan disease,TRUE,FALSE,Active +GARD:599,Active,Orphanet,ORPHA:1915,Disorder,[Malformation syndrome],Fetal alcohol syndrome,"[ARBD, ARND, Alcohol-related birth defects, Alcohol-related neurodevelopmental disorder, FAS, FASD, Fetal alcohol spectrum disorders]","Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).",,,,,,Fetal Alcohol Spectrum Disorders,FALSE,FALSE,Active +GARD:5993,Active,Orphanet+OMIM,OMIM:611490,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 4","[Osteopetrosis, infantile malignant 2]",,[611490],[667],[Autosomal recessive malignant osteopetrosis],[15012],,Osteopetrosis autosomal recessive 4,TRUE,FALSE,Active +GARD:5994,Active,Orphanet,ORPHA:100093,Disorder,[Clinical syndrome],Carcinoid syndrome,[Malignant carcinoid syndrome],"A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.",,,,,,Carcinoid syndrome,TRUE,FALSE,Active +GARD:5996,Legacy,GARD,,,,,,,,,,,,Carcinoma of the vocal tract,TRUE,FALSE,Active +GARD:5999,Legacy,GARD,,,,,,,,,,,,Cardiospasm,TRUE,FALSE,Active +GARD:6,Active,Orphanet,ORPHA:93437,Group of disorders,[Clinical group],Acromesomelic dysplasia,,,,,,,,Acromesomelic dysplasia,TRUE,FALSE,Active +GARD:60,Active,Orphanet,ORPHA:64734,Disorder,[Disease],Iridocorneal endothelial syndrome,[ICE syndrome],"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler’s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications",,,,,,Iridocorneal endothelial syndrome,TRUE,FALSE,Active +GARD:600,Active,Orphanet,ORPHA:57,Disorder,[Disease],Glycogen storage disease due to aldolase A deficiency,"[GSD due to aldolase A deficiency, GSD type 12, GSD type XII, Glycogen storage disease type 12, Glycogen storage disease type XII, Glycogenosis due to aldolase A deficiency, Glycogenosis type 12, Glycogenosis type XII]",Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.,[611881],,,,,Glycogen storage disease type 12,TRUE,FALSE,Active +GARD:6001,Active,Orphanet,ORPHA:1361,Disorder,[Biological anomaly],Carnosinase deficiency,,"A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.",[212200],,,,,Carnosinemia,TRUE,FALSE,Active +GARD:6002,Active,Orphanet,ORPHA:53035,Disorder,[Malformation syndrome],Caroli disease,,Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.,[600643],,,,,Caroli disease,TRUE,FALSE,Active +GARD:6003,Active,Orphanet,ORPHA:65759,Disorder,[Malformation syndrome],Carpenter syndrome,"[ACPS2, Acrocephalopolysyndactyly type 2]","A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia.","[201000, 614976]",,,,,Carpenter syndrome,TRUE,FALSE,Active +GARD:6004,Legacy,GARD,,,,,,,,,,,,Cartilaginous cancer,TRUE,FALSE,Active +GARD:6005,Active,Orphanet,ORPHA:93685,Subtype of disorder,[Clinical subtype],Unicentric Castleman disease,[Localized Castleman disease],A form of Castleman disease that is usually asymptomatic or that may present with enlarged lymph nodes.,,,,,,Unicentric Castleman disease,TRUE,FALSE,Active +GARD:6007,Active,Orphanet,ORPHA:3027,Disorder,[Malformation syndrome],Caudal regression syndrome,"[Caudal dysgenesis syndrome, Caudal dysplasia, Caudal regression sequence]","A rare congenital malformation of the lower spinal segments characterized by either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described.",[600145],,,,,Caudal regression sequence,TRUE,FALSE,Active +GARD:6010,Active,Orphanet,ORPHA:79489,Disorder,[Malformation syndrome],Macrocystic lymphatic malformation,"[Cavernous lymphangioma, Cavernous lymphatic malformation, Macrocystic lymphangioma]","A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Macrocystic lesions consist of cysts larger than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.",,,,,,Cavernous lymphangioma,TRUE,FALSE,Active +GARD:6011,Active,Orphanet,ORPHA:98889,Subtype of disorder,[Clinical subtype],Bilateral perisylvian polymicrogyria,,,"[615752, 616531, 300388]",,,,,Bilateral perisylvian polymicrogyria,TRUE,FALSE,Active +GARD:6014,Active,Orphanet,ORPHA:597,Disorder,[Disease],Central core disease,,Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.,[117000],,,,,Central core disease,TRUE,FALSE,Active +GARD:6015,Active,Orphanet,ORPHA:178029,Disorder,[Disease],Central diabetes insipidus,"[CDI, Neurogenic diabetes insipidus]",Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms).,"[125700, 304900]",,,,,Central diabetes insipidus,TRUE,FALSE,Active +GARD:6019,Legacy,GARD,,,,,,,,,,,,Cerebellar degeneration,TRUE,FALSE,Active +GARD:602,Active,Orphanet,ORPHA:1164,Disorder,[Disease],Allergic bronchopulmonary aspergillosis,"[ABPA, Allergic aspergillosis, Hinson-Pepys disease]","A rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.",[103920],,,,,Allergic bronchopulmonary aspergillosis,TRUE,FALSE,Active +GARD:6025,Legacy,GARD,,,,,,,,,,,,Cerebral ventricle cancer,TRUE,FALSE,Active +GARD:6026,Active,Orphanet,ORPHA:1393,Disorder,[Malformation syndrome],Cerebrocostomandibular syndrome,,"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.",[117650],,,,,Cerebro-costo-mandibular syndrome,TRUE,FALSE,Active +GARD:6027,Active,Orphanet,ORPHA:1466,Subtype of disorder,[Clinical subtype],COFS syndrome,"[Cerebrooculofacioskeletal syndrome, Pena-Shokeir syndrome type 2]","Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.","[610758, 214150, 610756, 616570, 278780]",,,,,Cerebro-oculo-facio-skeletal syndrome,TRUE,FALSE,Active +GARD:6030,Legacy,GARD,,,,,,,,,,,,Chagas disease,FALSE,FALSE,Active +GARD:6033,Active,Orphanet,ORPHA:98979,Subtype of disorder,[Clinical subtype],Chandler syndrome,,"A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.",,,,,,Chandler's syndrome,TRUE,FALSE,Active +GARD:6034,Active,Orphanet,ORPHA:166,Group of disorders,[Category],Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,"[CMT/HMSN, Charcot-Marie-Tooth hereditary neuropathy]",,,,,,,Charcot-Marie-Tooth disease,TRUE,FALSE,Active +GARD:6035,Active,Orphanet,ORPHA:167,Disorder,[Disease],Chédiak-Higashi syndrome,"[Chédiak-Higashi disease, Chédiak-Higashi-Steinbrink syndrome]","Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.",[214500],,,,,Chediak-Higashi syndrome,TRUE,FALSE,Active +GARD:6036,Active,Orphanet,ORPHA:184,Disorder,[Malformation syndrome],Cherubism,[CRBM],"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.",[118400],,,,,Cherubism,TRUE,FALSE,Active +GARD:6037,Legacy,GARD,,,,,,,,,,,,Chiari-Frommel syndrome,TRUE,FALSE,Active +GARD:6038,Active,Orphanet,ORPHA:324625,Disorder,[Disease],Chikungunya,,"A rare infectious disease characterized by acute onset of high fever associated with debilitating polyarthralgia and usually accompanied by an erythematous skin rash (that may progress to vesiculobullous lesions in children) caused by the mosquitoe-borne Chikungunya virus. Myalgia, severe headache, and lymphadenopathy are frequently associated. Chronically the disease may cause recurrent, long-term polyarthralgia, arthritis, fatigue, and depression.",,,,,,Chikungunya,TRUE,FALSE,Active +GARD:6039,Active,Orphanet,ORPHA:139,Disorder,[Disease],CHILD syndrome,"[CHILD nevus, Congenital hemidysplasia with ichthyosiform nevus and limbs defects]","CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.",[308050],,,,,CHILD syndrome,TRUE,FALSE,Active +GARD:604,Active,Orphanet,ORPHA:1010,Disorder,[Disease],Autosomal dominant palmoplantar keratoderma and congenital alopecia,"[Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia, PPK-CA, Stevanovic type, Palmoplantar keratoderma and congenital alopecia, Stevanovic type]","A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.",[104100],,,,,Autosomal dominant palmoplantar keratoderma and congenital alopecia,TRUE,FALSE,Active +GARD:6040,Active,Orphanet,ORPHA:168782,Disorder,[Disease],Childhood disintegrative disorder,"[Dementia infantilis, Heller syndrome]","Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.",,,,,,Childhood disintegrative disorder,TRUE,FALSE,Active +GARD:6042,Legacy,GARD,,,,,,,,,,,,Intrahepatic cholangiocarcinoma,TRUE,FALSE,Active +GARD:6043,Active,Orphanet,ORPHA:173,Disorder,[Disease],Cholera,,"Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.",,,,,,Cholera,TRUE,FALSE,Active +GARD:6047,Legacy,GARD,,,,,,,,,,,,Chondroblastoma,TRUE,FALSE,Active +GARD:6048,Active,Orphanet+OMIM,OMIM:600668,Subtype of disorder,[Disease subtype],Chondrocalcinosis 1,,"For a general phenotypic description and a discussion of genetic heterogeneity of chondrocalcinosis, also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), see CCAL2 ({118600}).",[600668],[1416],[Familial calcium pyrophosphate deposition],[1292],,Chondrocalcinosis 1,TRUE,FALSE,Active +GARD:6049,Active,Orphanet,ORPHA:309789,Subtype of disorder,[Etiological subtype],Rhizomelic chondrodysplasia punctata type 1,,,[215100],,,,,Rhizomelic chondrodysplasia punctata type 1,TRUE,FALSE,Active +GARD:605,Active,Orphanet,ORPHA:1005,Disorder,[Malformation syndrome],Alopecia-contractures-dwarfism-intellectual disability syndrome,[ACD-intellectual disability syndrome],"A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.",[203550],,,,,Alopecia-contractures-dwarfism-intellectual disability syndrome,TRUE,FALSE,Active +GARD:6050,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia punctata with steroid sulfatase deficiency,TRUE,FALSE,Active +GARD:6051,Legacy,GARD,,,,,,,,,,,,Chondrodystrophy,TRUE,FALSE,Active +GARD:6052,Legacy,GARD,,,,,,,,,,,,Chondroma,TRUE,FALSE,Active +GARD:6054,Legacy,GARD,,,,,,,,,,,,Synovial Chondromatosis,TRUE,FALSE,Active +GARD:6055,Active,Orphanet,ORPHA:55880,Disorder,[Disease],Chondrosarcoma,,"Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.",[215300],,,,,Chondrosarcoma,TRUE,FALSE,Active +GARD:6057,Legacy,GARD,,,,,,,,,,,,Chorea minor,TRUE,FALSE,Retired +GARD:6059,Legacy,GARD,,,,,,,,,,,,Choriocarcinoma,TRUE,FALSE,Active +GARD:606,Active,Orphanet,ORPHA:2574,Disorder,[Malformation syndrome],Moynahan syndrome,"[Alopecia-epilepsy-intellectual disability syndrome, Moynahan type]","A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.",[203600],,,,,Alopecia epilepsy oligophrenia syndrome of Moynahan,TRUE,FALSE,Active +GARD:6060,Legacy,GARD,,,,,,,,,,,,Chorioretinitis,TRUE,FALSE,Active +GARD:6061,Active,Orphanet,ORPHA:180,Disorder,[Disease],Choroideremia,"[CHM, Tapetochoroidal dystrophy]","Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.",[303100],,,,,Choroideremia,TRUE,FALSE,Active +GARD:6062,Legacy,GARD,,,,,,,,,,,,Choroiditis,TRUE,FALSE,Active +GARD:6064,Active,Orphanet,ORPHA:319303,Disorder,[Disease],Chromophobe renal cell carcinoma,[Chromophobe renal cell adenocarcinoma],"Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.",,,,,,Chromophobe renal cell carcinoma,TRUE,FALSE,Active +GARD:6065,Legacy,GARD,,,,,,,,,,,,Chromosomal triplication,TRUE,FALSE,Active +GARD:6068,Legacy,GARD,,,,,,,,,,,,Chromosome 12p deletion,TRUE,FALSE,Active +GARD:6069,Active,Orphanet,ORPHA:96176,Disorder,[Malformation syndrome],Ring chromosome 13 syndrome,"[Ring 13, Ring chromosome 13]","A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.",,,,,,Ring chromosome 13,TRUE,FALSE,Active +GARD:607,Active,Orphanet,ORPHA:1008,Disorder,[Disease],Alopecia-epilepsy-pyorrhea-intellectual disability syndrome,[Shokeir syndrome],"A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.",[104130],,,,,"Alopecia, epilepsy, pyorrhea, mental subnormality",TRUE,FALSE,Active +GARD:6072,Active,Orphanet,ORPHA:1440,Disorder,[Malformation syndrome],Ring chromosome 14 syndrome,"[Ring 14, Ring chromosome 14]","A rare chromosomal anomalie characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.",[616606],,,,,Ring chromosome 14,TRUE,FALSE,Active +GARD:6075,Legacy,GARD,,,,,,,,,,,,Chromosome 17p deletion,TRUE,FALSE,Active +GARD:6077,Active,Orphanet,ORPHA:1442,Disorder,[Malformation syndrome],Ring chromosome 18 syndrome,"[Ring 18, Ring chromosome 18]","Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.",,,,,,Ring chromosome 18,TRUE,FALSE,Active +GARD:608,Legacy,GARD,,,,,,,,,,,,"Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome",TRUE,FALSE,Retired +GARD:6082,Active,Orphanet,ORPHA:1606,Disorder,[Malformation syndrome],1p36 deletion syndrome,"[Del(1)(p36), Deletion 1p36, Deletion 1pter, Monosomy 1p36, Monosomy 1pter, Subtelomeric 1p36 deletion]","A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency.","[616975, 607872]",,,,,Chromosome 1p36 deletion syndrome,TRUE,FALSE,Active +GARD:6083,Active,Orphanet,ORPHA:1445,Disorder,[Malformation syndrome],Ring chromosome 21 syndrome,,"Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.",,,,,,Ring chromosome 21,TRUE,FALSE,Active +GARD:6085,Active,Orphanet,ORPHA:96068,Disorder,[Malformation syndrome],Mosaic trisomy 22,"[Mosaic trisomy chromosome 22, Trisomy 22 mosaicism]","Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.",,,,,,Mosaic trisomy 22,TRUE,FALSE,Active +GARD:609,Legacy,GARD,,,,,,,,,,,,Alopecia immunodeficiency,TRUE,FALSE,Retired +GARD:6090,Legacy,GARD,,,,,,,,,,,,Chromosome 4p deletion,TRUE,FALSE,Active +GARD:6091,Active,Orphanet,ORPHA:1738,Disorder,[Malformation syndrome],Trisomy 4p,"[Duplication 4p, Duplication of the short arm of chromosome 4, Trisomy of the short arm of chromosome 4]","Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.",,,,,,Chromosome 4p duplication,TRUE,FALSE,Active +GARD:6093,Active,Orphanet,ORPHA:1742,Disorder,[Malformation syndrome],Trisomy 5p,"[Duplication 5p, Duplication of the short arm of chromosome 5, Trisomy of the short arm of chromosome 5]","Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.",,,,,,Chromosome 5p duplication,TRUE,FALSE,Active +GARD:6095,Active,Orphanet,ORPHA:1448,Disorder,[Malformation syndrome],Ring chromosome 6 syndrome,"[Ring 6, Ring chromosome 6]","Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.",,,,,,Ring chromosome 6,TRUE,FALSE,Active +GARD:6099,Legacy,GARD,,,,,,,,,,,,Chronic erosive gastritis,TRUE,FALSE,Active +GARD:61,Active,Orphanet,ORPHA:1988,Disorder,[Malformation syndrome],Femoral-facial syndrome,"[FFS, FHUFS, Femoral hypoplasia-unusual facies syndrome]",Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.,[134780],,,,,Femoral facial syndrome,TRUE,FALSE,Active +GARD:610,Legacy,GARD,,,,,,,,,,,,Alopecia macular degeneration growth retardation,TRUE,FALSE,Retired +GARD:6100,Active,Orphanet,ORPHA:379,Disorder,[Disease],Chronic granulomatous disease,"[CGD, Chronic septic granulomatosis]","A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.","[306400, 613960, 233710, 233690, 618935, 233700]",,,,,Chronic granulomatous disease,TRUE,FALSE,Active +GARD:6102,Active,Orphanet,ORPHA:2932,Disorder,[Disease],Chronic inflammatory demyelinating polyneuropathy,"[CIDP, Chronic inflammatory demyelinating polyradiculoneuropathy]","A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.",,,,,,Chronic inflammatory demyelinating polyneuropathy,TRUE,FALSE,Active +GARD:6104,Active,Orphanet,ORPHA:67038,Disorder,[Disease],B-cell chronic lymphocytic leukemia,"[B-CLL, B-cell chronic lymphoid leukemia, Small lymphocytic lymphoma]","B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.","[109543, 612558, 151400, 612559, 609630, 612557]",,,,,Chronic lymphocytic leukemia,TRUE,FALSE,Active +GARD:6105,Active,Orphanet,ORPHA:521,Disorder,[Disease],Chronic myeloid leukemia,"[CML, Chronic granulocytic leukemia, Chronic myelogenous leukemia]",Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.,[608232],,,,,Chronic myeloid leukemia,TRUE,FALSE,Active +GARD:6107,Active,Orphanet+OMIM,OMIM:257100,Subtype of disorder,[Disease subtype],"Neutropenia, lethal congenital, with eosinophilia",,"{1:Andrews et al. (1960)} described 2 affected sibs. The parents were not known to be related. It is not entirely certain that this is an entity separate from that listed as agranulocytosis ({202700}). It is possible that some cases of neonatal neutropenia are due to fetomaternal immunization involving neutrophil-specific antigens ({2:Lalezari and Radel, 1974}).",[257100],[486],[Autosomal dominant severe congenital neutropenia],[9558],,Neutropenia lethal congenital with eosinophilia,TRUE,FALSE,Active +GARD:6108,Active,Orphanet,ORPHA:324964,Disorder,[Disease],Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis,[CNO/CRMO],"Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.",[259680],,,,,Chronic recurrent multifocal osteomyelitis,TRUE,FALSE,Active +GARD:6111,Active,Orphanet,ORPHA:183,Disorder,[Disease],Eosinophilic granulomatosis with polyangiitis,"[Churg-Strauss syndrome, EGPA, Granulomatous allergic angiitis]","A rare systemic vasculitis of small vessels characterized by asthma, blood and tissue eosinophilia and vasculitis manifestations.",,,,,,Eosinophilic granulomatosis with polyangiitis,TRUE,FALSE,Active +GARD:6113,Legacy,GARD,,,,,,,,,,,,Ciguatera fish poisoning,TRUE,FALSE,Active +GARD:6114,Active,Orphanet,ORPHA:247525,Disorder,[Disease],Citrullinemia type I,"[ASS deficiency, Argininosuccinate synthase deficiency, Argininosuccinate synthetase deficiency, Argininosuccinic acid synthase deficiency, Argininosuccinic acid synthetase deficiency, CTLN1, Citrullinemia type 1, Classic citrullinemia]","Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term).",[215700],,,,,Citrullinemia type I,TRUE,FALSE,Active +GARD:6118,Active,Orphanet,ORPHA:1452,Disorder,[Malformation syndrome],Cleidocranial dysplasia,[Cleidocranial dysostosis],"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.","[216330, 119600]",,,,,Cleidocranial dysplasia,TRUE,FALSE,Active +GARD:612,Active,Orphanet,ORPHA:2850,Disorder,[Disease],Alopecia-intellectual disability syndrome,[Perniola-Krajewska-Carnevale syndrome],"An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.","[203650, 610422, 618840, 613930]",,,,,Alopecia-intellectual disability syndrome,TRUE,FALSE,Active +GARD:6121,Active,Orphanet,ORPHA:190,Disorder,[Disease],Coats disease,"[Congenital retinal telangiectasia, Leber miliary aneurysm]","Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.",[300216],,,,,Coats disease,TRUE,FALSE,Active +GARD:6122,Active,Orphanet,ORPHA:191,Disorder,[Disease],Cockayne syndrome,,"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.","[610758, 214150, 610756, 616570, 216400, 133540, 278780]",,,,,Cockayne syndrome,TRUE,FALSE,Active +GARD:6123,Active,Orphanet,ORPHA:192,Disorder,[Malformation syndrome],Coffin-Lowry syndrome,[CLS],"A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.",[303600],,,,,Coffin-Lowry syndrome,TRUE,FALSE,Active +GARD:6124,Active,Orphanet,ORPHA:1465,Disorder,[Malformation syndrome],Coffin-Siris syndrome,[CSS],"A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations.","[618779, 615866, 617808, 619325, 618506, 614607, 135900, 614608, 616938, 618027, 618362, 614609]",,,,,Coffin-Siris syndrome,TRUE,FALSE,Active +GARD:6125,Active,Orphanet,ORPHA:98980,Subtype of disorder,[Clinical subtype],Cogan-Reese syndrome,,"A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.",,,,,,Cogan-Reese syndrome,TRUE,FALSE,Active +GARD:6126,Active,Orphanet,ORPHA:193,Disorder,[Malformation syndrome],Cohen syndrome,,"A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.",[216550],,,,,Cohen syndrome,TRUE,FALSE,Active +GARD:613,Active,Orphanet,ORPHA:700,Disorder,[Disease],Alopecia totalis,,"A form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.","[300042, 610753, 104000]",,,,,Alopecia totalis,TRUE,FALSE,Active +GARD:6130,Active,Orphanet,ORPHA:56425,Disorder,[Disease],Cold agglutinin disease,"[CAD, CAS, Chronic cold agglutinin disease, Cold agglutinin syndrome]",Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C).,,,,,,Cold agglutinin disease,TRUE,FALSE,Active +GARD:6131,Legacy,GARD,,,,,,,,,,,,Cold urticaria,TRUE,FALSE,Active +GARD:6135,Legacy,GARD,,,,,,,,,,,,Collagenous colitis,FALSE,FALSE,Active +GARD:6137,Legacy,GARD,,,,,,,,,,,,Colonic malakoplakia,TRUE,FALSE,Active +GARD:614,Active,Orphanet,ORPHA:701,Disorder,[Disease],Alopecia universalis,,"A disorder of most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.","[203655, 610753, 104000]",,,,,Alopecia universalis,TRUE,FALSE,Active +GARD:6140,Active,Orphanet,ORPHA:1572,Disorder,[Disease],Common variable immunodeficiency,"[CVID, Idiopathic immunoglobulin deficiency, Primary antibody deficiency, Primary hypogammaglobulinemia]","Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.","[613494, 146830, 607594, 240500, 613495, 613496, 613493, 615577, 616576, 614699]",,,,,Common variable immunodeficiency,TRUE,FALSE,Active +GARD:6141,Legacy,GARD,,,,,,,,,,,,Compartment syndrome,TRUE,FALSE,Active +GARD:6145,Active,Orphanet+OMIM,OMIM:120970,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 2,"[retinal cone-rod dystrophy, cone-rod retinal dystrophy, Cone-rod dystrophy]","Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina ({10:Moore, 1992}). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found ({12:Tzekov, 1998}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Cone-Rod Dystrophy\n\nThere are several other autosomal forms of CORD for which the molecular basis is known. CORD3 ({604116}) is caused by mutation in the ABCA4 gene ({601691}) on chromosome 1p22. CORD5 ({600977}) is caused by mutation in the PITPNM3 gene ({608921}) on chromosome 17p13. CORD6 ({601777}) is caused by mutation in the GUCY2D gene ({600179}) on chromosome 17p13.1. CORD7 ({603649}) is caused by mutation in the RIMS1 gene ({606629}) on chromosome 6q13. CORD9 ({612775}) is caused by mutation in the ADAM9 gene ({602713}) on chromosome 8p11. CORD10 ({610283}) is caused by mutation in the SEMA4A gene ({607292}) on chromosome 1q22. CORD11 ({610381}) is caused by mutation in the RAXL1 gene ({610362}) on chromosome 19p13. CORD12 ({612657}) is caused by mutation in the PROM1 gene ({604365}) on chromosome 4p15. CORD13 ({608194}) is caused by mutation in the RPGRIP1 gene ({605446}) on chromosome 14q11. CORD14 (see {602093}) is caused by mutation in the GUCA1A gene ({600364}) on chromosome 6p21. CORD15 ({613660}) is caused by mutation in the CDHR1 gene ({609502}) on chromosome 10q23. CORD16 ({614500}) is caused by mutation in the C8ORF37 gene ({614477}) on chromosome 8q22. CORD18 ({615374}) is caused by mutation in the RAB28 gene ({612994}) on chromosome 4p15. CORD19 ({615860}) is caused by mutation in the TTLL5 gene ({612268}) on chromosome 14q24. CORD20 ({615973}) is caused by mutation in the POC1B gene ({614784}) on chromosome 12q21. CORD21 ({616502}) is caused by mutation in the DRAM2 gene ({613360}) on chromosome 1p13. CORD22 ({619531}) is caused by mutation in the TLCD3B gene ({615175}) on chromosome 16p11.\n\nA diagnosis of CORD was made in an individual with a mutation in the AIPL1 gene ({604392.0004}) on chromosome 17p13.1, as well as in an individual with a mutation in the UNC119 gene ({604011.0001}) on chromosome 17q11.2.\n\nOther mapped loci for autosomal CORD include CORD1 ({600624}) on chromosome 18q21.1-q21.3; CORD8 ({605549}) on chromosome 1q12-q24; and CORD17 ({615163}) on chromosome 10q26.\n\nFor a discussion of X-linked forms of cone-rod dystrophy, see CORDX1 ({304020}).",[120970],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 2,TRUE,FALSE,Active +GARD:6148,Active,Orphanet,ORPHA:82,Disorder,[Disease],Hereditary thrombophilia due to congenital antithrombin deficiency,[Hereditary thrombophilia due to congenital antithrombin 3 deficiency],"Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).",[613118],,,,,Hereditary antithrombin deficiency,TRUE,FALSE,Active +GARD:6149,Legacy,GARD,,,,,,,,,,,,Congenital aplastic anemia,TRUE,FALSE,Active +GARD:615,Legacy,GARD,,,,,,,,,,,,Alopecia universalis onychodystrophy vitiligo,TRUE,FALSE,Active +GARD:6150,Legacy,GARD,,,,,,,,,,,,Congenital arteriovenous shunt,TRUE,FALSE,Active +GARD:6154,Legacy,GARD,,,,,,,,,,,,Congenital cardiovascular shunt,TRUE,FALSE,Active +GARD:616,Legacy,GARD,,,,,,,,,,,,Alpha-2 deficient collagen disease,TRUE,FALSE,Retired +GARD:6161,Active,Orphanet,ORPHA:2020,Disorder,[Disease],Congenital fiber-type disproportion myopathy,[CFTDM],"A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.","[617760, 255310, 300580]",,,,,Congenital fiber type disproportion,TRUE,FALSE,Active +GARD:6163,Legacy,GARD,,,,,,,,,,,,Congenital generalized fibromatosis,TRUE,FALSE,Retired +GARD:6164,Active,Orphanet,ORPHA:60041,Disorder,[Disease],Congenital heart block,[Congenital atrioventricular block],"Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic.",[234700],,,,,Congenital heart block,TRUE,FALSE,Active +GARD:6167,Legacy,GARD,,,,,,,,,,,,Congenital hemolytic anemia,TRUE,FALSE,Active +GARD:6168,Active,Orphanet+OMIM,OMIM:263200,Subtype of disorder,[Disease subtype],Polycystic kidney disease 4 with or without polycystic liver disease,"[pkd3, formerly, Polycystic kidney disease 4 with or without hepatic disease, polycystic kidney and hepatic disease 1, polycystic kidney disease, infantile, type i, polycystic kidney disease, autosomal recessive]","PKD4 is an autosomal recessive polycystic kidney disease (ARPKD) characterized by enlarged, echogenic kidneys with fusiform dilatation of the collecting ducts. Most patients progress to end-stage renal disease (ESRD), but at varying ages. Patients also have liver disease consisting of dilated biliary ducts, congenital hepatic fibrosis (CHF), and portal hypertension (Caroli disease). The most typical disease expression occurs in neonates and includes a history of oligohydramnios, massively enlarged kidneys, and the 'Potter' sequence with pulmonary hypoplasia that leads to respiratory insufficiency and perinatal death in approximately 30% of affected newborns (summary by {23:Hartung and Guay-Woodford, 2014}).\n\nFor a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 ({173900}).",[263200],[731],[Autosomal recessive polycystic kidney disease],[8378],,Congenital hepatic fibrosis,TRUE,FALSE,Active +GARD:6169,Active,Orphanet,ORPHA:95159,Disorder,[Disease],Hepatoerythropoietic porphyria,[HEP],Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.,[176100],,,,,Hepatoerythropoietic porphyria,TRUE,FALSE,Active +GARD:617,Active,Orphanet,ORPHA:31,Disorder,[Disease],Oxoglutaric aciduria,[Alpha-ketoglutarate dehydrogenase deficiency],"A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.",[203740],,,,,Alpha-ketoglutarate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:6170,Legacy,GARD,,,,,,,,,,,,Congenital hypomyelination neuropathy,TRUE,FALSE,Retired +GARD:6176,Active,Orphanet+OMIM,OMIM:160800,Subtype of disorder,[Disease subtype],"Myotonia congenita, autosomal dominant",[Thomsen disease],"Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction ({27:Sun et al., 2001}). Thomsen disease is less common and less severe than Becker disease.\n\nSee also paramyotonia congenita (PMC; {168300}) and potassium-aggravated myotonia ({608390}), overlapping phenotypes caused by mutations in the SCN4A gene ({603967}).",[160800],[614],[Thomsen and Becker disease],[12301],,Myotonia congenita autosomal dominant,TRUE,FALSE,Retired +GARD:6177,Legacy,GARD,,,,,,,,,,,,Congenital nonhemolytic jaundice,TRUE,FALSE,Active +GARD:6183,Legacy,GARD,,,,,,,,,,,,Congenital sucrose isomaltose malabsorption,TRUE,FALSE,Retired +GARD:6187,Legacy,GARD,,,,,,,,,,,,Ligneous conjunctivitis,TRUE,FALSE,Active +GARD:6188,Legacy,GARD,,,,,,,,,,,,Conn's syndrome,TRUE,FALSE,Retired +GARD:6189,Active,Orphanet,ORPHA:35173,Disorder,[Disease],X-linked dominant chondrodysplasia punctata,"[CDPX2, CDPXD, CPXD, Chondrodystrophia calcificans congenita, Conradi-Hünermann-Happle syndrome, X-linked chondrodysplasia punctata type 2]","A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.",[302960],,,,,X-linked dominant chondrodysplasia punctata 2,TRUE,FALSE,Active +GARD:6191,Legacy,GARD,,,,,,,,,,,,Conversion disorder,TRUE,FALSE,Active +GARD:6193,Legacy,GARD,,,,,,,,,,,,Cor biloculare,TRUE,FALSE,Active +GARD:6194,Active,Orphanet,ORPHA:1463,Group of disorders,[Clinical group],Triatrial heart,[Cor triatriatum],,,,,,,Cor triatriatum,TRUE,FALSE,Active +GARD:6196,Active,Orphanet,ORPHA:293603,Disorder,[Disease],Congenital hereditary endothelial dystrophy type II,"[Autosomal recessive CHED, Autosomal recessive congenital hereditary endothelial dystrophy, CHED2, CHEDII, Congenital hereditary endothelial dystrophy type 2, Infantile hereditary endothelial dystrophy, Maumenee corneal dystrophy]","Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.",[217700],,,,,Corneal endothelial dystrophy type 2,TRUE,FALSE,Active +GARD:62,Active,Orphanet,ORPHA:3255,Disorder,[Malformation syndrome],Filippi syndrome,[Type 1 syndactyly-microcephaly-intellectual disability syndrome],"Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.",[272440],,,,,Filippi syndrome,TRUE,FALSE,Active +GARD:6200,Legacy,GARD,,,,,,,,,,,,Coronary artery aneurysm,TRUE,FALSE,Active +GARD:6202,Active,Orphanet,ORPHA:201,Disorder,[Disease],Cowden syndrome,"[Cowden disease, Multiple hamartoma syndrome]","A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.","[158350, 615107, 615108, 616858, 615109]",,,,,Cowden syndrome,TRUE,FALSE,Active +GARD:6205,Active,Orphanet,ORPHA:581271,Disorder,[Disease],Cramp-fasciculation syndrome,,,,,,,,Cramp-fasciculation syndrome,TRUE,FALSE,Active +GARD:6206,Active,Orphanet,ORPHA:207,Disorder,[Malformation syndrome],Crouzon syndrome,[Crouzon craniofacial dysostosis],Crouzon disease is characterized by craniosynostosis and facial hypoplasia.,[123500],,,,,Crouzon syndrome,TRUE,FALSE,Active +GARD:6209,Active,Orphanet,ORPHA:1531,Group of disorders,[Category],Craniosynostosis,,Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.,,,,,,Craniosynostosis,TRUE,FALSE,Active +GARD:621,Active,Orphanet,ORPHA:846,Disorder,[Disease],Alpha-thalassemia,,A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.,[604131],,,,,Alpha-thalassemia,TRUE,FALSE,Active +GARD:6211,Legacy,GARD,,,,,,,,,,,,Neonatal hypothyroidism,TRUE,FALSE,Retired +GARD:6213,Active,Orphanet,ORPHA:281,Disorder,[Malformation syndrome],Monosomy 5p,"[Cri du chat syndrome, Deletion 5p]","A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of intellectual disability, developmental delay, microcephaly, and facial dysmorphism.",[123450],,,,,Cri du chat syndrome,TRUE,FALSE,Active +GARD:6217,Active,Orphanet,ORPHA:91139,Disorder,[Disease],Simple cryoglobulinemia,[Cryoglobulinemia type 1],Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.,,,,,,Simple cryoglobulinemia,TRUE,FALSE,Active +GARD:6218,Active,Orphanet,ORPHA:1546,Disorder,[Disease],Cryptococcosis,,A cosmopolitan fungal infection due to Cryptococcus neoformans.,,,,,,Cryptococcosis,TRUE,FALSE,Active +GARD:6219,Legacy,GARD,,,,,,,,,,,,Cryptosporidiosis,TRUE,FALSE,Active +GARD:6224,Active,Orphanet,ORPHA:553,Group of disorders,[Clinical group],Cushing syndrome,"[Hyperadrenocorticism, Hypercortisolism]",Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.,,,,,,Cushing's syndrome,TRUE,FALSE,Active +GARD:6225,Active,Orphanet,ORPHA:535,Group of disorders,[Clinical group],Rare cutaneous lupus erythematosus,,Rare cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE).,,,,,,Cutaneous lupus erythematosus,TRUE,FALSE,Active +GARD:6226,Active,Orphanet,ORPHA:171901,Group of disorders,[Category],Primary cutaneous T-cell lymphoma,,,,,,,,Cutaneous T-cell lymphoma,TRUE,FALSE,Active +GARD:6227,Active,Orphanet,ORPHA:209,Group of disorders,[Clinical group],Cutis laxa,,"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.",,,,,,Cutis laxa,TRUE,FALSE,Active +GARD:6228,Active,Orphanet,ORPHA:1556,Disorder,[Malformation syndrome],Cutis marmorata telangiectatica congenita,[CMTC],"Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.",[219250],,,,,Cutis marmorata telangiectatica congenita,TRUE,FALSE,Active +GARD:6229,Active,Orphanet,ORPHA:2686,Disorder,[Disease],Cyclic neutropenia,,"A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.",[162800],,,,,Cyclic neutropenia,TRUE,FALSE,Active +GARD:6230,Legacy,GARD,,,,,,,,,,,,Cyclic vomiting syndrome,FALSE,FALSE,Active +GARD:6232,Legacy,GARD,,,,,,,,,,,,Cystic adenomatoid malformation of lung,TRUE,FALSE,Active +GARD:6233,Active,Orphanet,ORPHA:586,Disorder,[Disease],Cystic fibrosis,"[CF, Mucoviscidosis]","A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.",[219700],,,,,Cystic fibrosis,TRUE,FALSE,Active +GARD:6234,Legacy,GARD,,,,,,,,,,,,Cystic hygroma,TRUE,FALSE,Active +GARD:6236,Active,Orphanet,ORPHA:213,Disorder,[Disease],Cystinosis,[Protein defect of cystin transport],"A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.","[219750, 219900, 219800]",,,,,Cystinosis,TRUE,FALSE,Active +GARD:6237,Active,Orphanet,ORPHA:214,Disorder,[Disease],Cystinuria,[Cystinuria-lysinuria syndrome],A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones.,[220100],,,,,Cystinuria,TRUE,FALSE,Active +GARD:624,Active,Orphanet,ORPHA:88918,Subtype of disorder,[Clinical subtype],Autosomal dominant Alport syndrome,,,[104200],,,,,Autosomal dominant Alport syndrome,TRUE,FALSE,Active +GARD:6240,Legacy,GARD,,,,,,,,,,,,D-minus hemolytic uremic syndrome (D-HUS),TRUE,FALSE,Active +GARD:6241,Legacy,GARD,,,,,,,,,,,,D-plus hemolytic uremic syndrome (D+HUS),TRUE,FALSE,Active +GARD:6242,Active,Orphanet,ORPHA:217,Disorder,[Morphological anomaly],Isolated Dandy-Walker malformation,,"A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.",[220200],,,,,Dandy-Walker complex,TRUE,FALSE,Active +GARD:6243,Active,Orphanet,ORPHA:218,Disorder,[Disease],Darier disease,"[Darier-White disease, Keratosis follicularis]","A rare, genetic keratinization disorder which is classically characterized by keratotic papules, acral pits, and acral wart-like lesions that can be associated with a trigger, and may occur anywhere on the body (including mucosal surfaces). Extracutaneous manifestations may include, nail anomalies, blepharitis, dry eye, neuropsychiatric illness and, recurrent parotid gland obstruction and xerostomia.",[124200],,,,,Darier disease,TRUE,FALSE,Active +GARD:6249,Active,Orphanet,ORPHA:679,Disorder,[Disease],Malignant atrophic papulosis,"[Degos disease, Köhlmeier-Degos disease, Köhlmeier-Degos-Delort-Tricort syndrome, Papulosis atrophican maligna]","Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.",[602248],,,,,Malignant Atrophic Papulosis,TRUE,FALSE,Active +GARD:625,Active,Orphanet,ORPHA:88919,Subtype of disorder,[Clinical subtype],Autosomal recessive Alport syndrome,,,[203780],,,,,Autosomal recessive Alport syndrome,TRUE,FALSE,Active +GARD:6254,Active,Orphanet,ORPHA:99828,Disorder,[Disease],Dengue fever,"[DF, Dengue virus infection]","Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).",[614371],,,,,Dengue fever,TRUE,FALSE,Active +GARD:6256,Legacy,GARD,,,,,,,,,,,,Calcifying Epithelial Odontogenic Tumor,TRUE,FALSE,Active +GARD:6258,Active,Orphanet,ORPHA:49042,Disorder,[Disease],Dentinogenesis imperfecta,"[DGI, DGI without OI, DI, Dentinogenesis imperfecta without osteogenesis imperfecta, Non-syndromic DGI, Non-syndromic dentinogenesis imperfecta, Opalescent teeth without OI, Opalescent teeth without osteogenesis imperfecta]",Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development.,,,,,,Dentinogenesis imperfecta ,TRUE,FALSE,Active +GARD:6260,Legacy,GARD,,,,,,,,,,,,Depersonalization/derealization disorder,TRUE,FALSE,Active +GARD:6263,Active,Orphanet,ORPHA:221,Disorder,[Disease],Dermatomyositis,[Adult dermatomyositis],"A rare idiopathic inflammatory myopathy (IIM) characterized by evocative skin lesions, muscle involvement with symmetrical proximal muscle weakness, and specific histological features. The clinical subtypes are defined by the presence of myositis-specific antibodies (anti-Mi2, anti-NXP2, anti-TIF1-γ, anti-MDA5, or anti-SAE antibodies) and are associated with specific clinical phenotypes and prognosis.",,,,,,Dermatomyositis,TRUE,FALSE,Active +GARD:6265,Active,Orphanet,ORPHA:83469,Disorder,[Disease],Desmoplastic small round cell tumor,[DSRCT],"An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.",,,,,,Desmoplastic small round cell tumor,TRUE,FALSE,Active +GARD:6267,Active,Orphanet,ORPHA:71211,Disorder,[Disease],Neuromyelitis optica spectrum disorder,"[Devic disease, NMOSD]",A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.,,,,,,Neuromyelitis optica spectrum disorder,TRUE,FALSE,Active +GARD:6268,Legacy,GARD,,,,,,,,,,,,Dextrocardia with situs inversus,TRUE,FALSE,Active +GARD:6274,Active,Orphanet,ORPHA:124,Disorder,[Disease],Blackfan-Diamond anemia,"[Aase syndrome, Aase-Smith II syndrome, Congenital PRCA, Congenital hypoplastic anemia, Blackfan-Diamond type, Congenital pure red cell aplasia, Diamond-Blackfan anemia]",Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.,"[615550, 617408, 613308, 606164, 610629, 617409, 612561, 606129, 618310, 613309, 618312, 614900, 612562, 615909, 612527, 612563, 612528, 105650, 300946, 618313]",,,,,Diamond-Blackfan anemia,TRUE,FALSE,Active +GARD:6275,Active,Orphanet,ORPHA:628,Disorder,[Disease],Diastrophic dysplasia,[Diastrophic dwarfism],"A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).",[222600],,,,,Diastrophic dysplasia,TRUE,FALSE,Active +GARD:6276,Active,Orphanet,ORPHA:1672,Disorder,[Disease],Diencephalic syndrome,"[Diencephalic cachexia, Diencephalic syndrome of childhood, Diencephalic syndrome of emaciation, Russell diencephalic cachexia, Russell syndrome]","Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.",,,,,,Diencephalic syndrome,TRUE,FALSE,Active +GARD:6285,Legacy,GARD,,,,,,,,,,,,Doxorubicin induced cardiomyopathy,TRUE,FALSE,Active +GARD:6286,Active,Orphanet,ORPHA:231,Disorder,[Disease],Dracunculiasis,"[Dracunculosis, Guinea worm disease, Medina worm disease, Medinensis]","Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).",,,,,,Dracunculiasis,TRUE,FALSE,Active +GARD:6288,Active,Orphanet,ORPHA:233,Disorder,[Malformation syndrome],Duane retraction syndrome,"[DRS, DURS, Duane syndrome, Stilling-Turk-Duane syndrome]","A rare, ocular congenital cranial dysinnervation disorder characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction.","[617041, 604356, 616219, 126800]",,,,,Duane syndrome,TRUE,FALSE,Active +GARD:6289,Legacy,GARD,,,,,,,,,,,,Dubin-Johnson syndrome,TRUE,FALSE,Active +GARD:6290,Active,Orphanet,ORPHA:235,Disorder,[Malformation syndrome],Dubowitz syndrome,,"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.",[223370],,,,,Dubowitz syndrome,TRUE,FALSE,Active +GARD:6291,Active,Orphanet,ORPHA:98896,Disorder,[Disease],Duchenne muscular dystrophy,"[DMD, Severe dystrophinopathy, Duchenne type]","A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.",[310200],,,,,Duchenne muscular dystrophy,TRUE,FALSE,Active +GARD:6294,Legacy,GARD,,,,,,,,,,,,Dwarfism Levi type,TRUE,FALSE,Active +GARD:6295,Active,Orphanet,ORPHA:239,Disorder,[Disease],Dyggve-Melchior-Clausen disease,,"A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests)","[223800, 304950]",,,,,Dyggve-Melchior-Clausen syndrome,TRUE,FALSE,Active +GARD:6299,Active,Orphanet+OMIM,OMIM:127550,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal dominant 1","[Dyskeratosis congenita, scoggins type]","Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, among others (review by {3:Bessler et al., 2007} and {4:Bessler et al., 2010}).\n\nHoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by {16:Walne et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome\n\nDyskeratosis congenita is a genetically heterogeneous disorder, showing autosomal recessive, autosomal dominant, and X-linked inheritance. Additional autosomal dominant forms include DKCA2 ({613989}), caused by mutation in the TERT gene ({187270}) on chromosome 5p15; DKCA3 ({613990}), caused by mutation in the TINF2 gene ({604319}) on chromosome 14q12; DKCA4 (see {615190}), caused by mutation in the RTEL1 gene ({608833}) on chromosome 20q13, DKCA5 ({268130}), caused by mutation in the TINF2 gene ({604319}) on chromosome 14q12, and DKCA6 ({616553}), caused by mutation in the ACD gene ({609377}) on chromosome 16q22.\n\nAutosomal recessive forms include DKCB1 ({224230}), caused by mutation in the NOLA3 gene ({606471}) on chromosome 15q14; DKCB2 ({613987}), caused mutation in the NOLA2 gene ({606470}) on chromosome 5q35; DKCB3 ({613988}), caused by mutation in the TCAB1 gene (WRAP53; {612661}) on chromosome 17p13; DKCB4 (see {613989}), caused by mutation in the TERT gene; DKCB5 ({615190}), caused by mutation in the RTEL1 gene ({608833}) on chromosome 20q13; DKCB6 ({616353}), caused by mutation in the PARN gene ({604212}) on chromosome 16p13; and DKCB7 (see {616553}), caused by mutation in the ACD gene ({609377}) on chromosome 16q22. X-linked recessive DKCX ({305000}) is caused by mutation in the dyskerin gene (DKC1; {300126}) on Xq28.\n\nHoyeraal-Hreidarsson syndrome, the severe clinical variant of DKC, can be caused by mutation in several different DKC-associated genes; see, e.g., DKC1 ({300136}), TINF2 ({604319}), TERT ({187270}), and RTEL1 ({608833}).\n\nSee also adult-onset telomere-related pulmonary fibrosis and/or bone marrow failure-1 and -2 (PFBMFT1, {614742} and PFBMFT2, {614743}), which are caused by mutations in the TERT and TERC genes, respectively. These disorders share some features of DKC, but show later onset and do not have skin abnormalities. The disorders related to telomere shortening are part of a phenotypic spectrum.\n\nMutation in the CTC1 gene ({613129}) on chromosome 17p13 causes cerebroretinal microangiopathy with calcifications and cysts (CRMCC; {612199}), another telomere-related disorder with overlapping features of DKC.",[127550],[1775],[Dyskeratosis congenita],[10905],,Dyskeratosis congenita autosomal dominant,TRUE,FALSE,Active +GARD:63,Legacy,GARD,,,,,,,,,,,,Forbes Albright syndrome,TRUE,FALSE,Retired +GARD:6300,Active,Orphanet+OMIM,OMIM:224230,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 1",,"Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by {7:Kirwan and Dokal, 2008}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[224230],[1775],[Dyskeratosis congenita],[10905],,Dyskeratosis congenita autosomal recessive,TRUE,FALSE,Active +GARD:6308,Active,Orphanet,ORPHA:79408,Disorder,[Disease],"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form","[Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type, Generalized RDEB, severe form, RDEB generalisata gravis, RDEB, Hallopeau-Siemens type, Severe generalized RDEB]",A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.,[226600],,,,,Severe generalized recessive dystrophic epidermolysis bullosa,TRUE,FALSE,Active +GARD:6309,Active,Orphanet,ORPHA:40923,Disorder,[Disease],Eales disease,"[Idiopathic retinal perivasculitis, Idiopathic retinal vasculitis]","A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.",,,,,,Eales disease,TRUE,FALSE,Active +GARD:6313,Active,Orphanet,ORPHA:1880,Disorder,[Morphological anomaly],Ebstein malformation of the tricuspid valve,[Ebstein anomaly of the tricuspid valve],"A rare congenital cardiac anomaly characterized by downward (apical) displacement of the functional annulus, due to incomplete delamination of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. The anterosuperior leaflet is often abnormal (redundancy, fenestrations, tethering with abnormal subvalvar apparatus). The atrioventricular junction and the ''atrialized'' portion of the right ventricle are dilated, with variable degrees of thinning of the right ventricular wall.",[224700],,,,,Ebstein's anomaly,TRUE,FALSE,Active +GARD:6314,Legacy,GARD,,,,,,,,,,,,Eccentrochondrodysplasia,TRUE,FALSE,Active +GARD:6315,Legacy,GARD,,,,,,,,,,,,Eccrine acrospiromas,TRUE,FALSE,Retired +GARD:6316,Legacy,GARD,,,,,,,,,,,,Eclampsia,TRUE,FALSE,Active +GARD:6317,Active,Orphanet,ORPHA:79373,Group of disorders,[Category],Ectodermal dysplasia syndrome,[Ectodermal dysplasia],"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.",,,,,,Ectodermal dysplasia,TRUE,FALSE,Active +GARD:6318,Legacy,GARD,,,,,,,,,,,,Ectopic pregnancy,TRUE,FALSE,Active +GARD:6319,Active,Orphanet,ORPHA:2440,Disorder,[Malformation syndrome],Isolated split hand-split foot malformation,"[Ectrodactyly, SHFM, Split hand foot malformation]","A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes.","[313350, 606708, 605289, 225300, 183600, 246560]",,,,,Split hand foot malformation,TRUE,FALSE,Active +GARD:632,Legacy,GARD,,,,,,,,,,,,Familial Alzheimer disease,TRUE,FALSE,Active +GARD:6321,Active,Orphanet,ORPHA:3380,Disorder,[Malformation syndrome],Trisomy 18,"[Chromosome 18 duplication, Edwards syndrome]","Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.",,,,,,Trisomy 18,TRUE,FALSE,Active +GARD:6322,Active,Orphanet,ORPHA:98249,Group of disorders,[Clinical group],Ehlers-Danlos syndrome,[EDS],"A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.",,,,,,Ehlers-Danlos syndromes,TRUE,FALSE,Active +GARD:6323,Active,Orphanet,ORPHA:97214,Disorder,[Malformation syndrome],Eisenmenger syndrome,,A rare respiratory disease associated with unoperated congenital heart disease and characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.,,,,,,Eisenmenger syndrome,TRUE,FALSE,Active +GARD:6324,Legacy,GARD,,,,,,,,,,,,Elective mutism,TRUE,FALSE,Active +GARD:6329,Active,Orphanet,ORPHA:261,Disorder,[Disease],Emery-Dreifuss muscular dystrophy,[EDMD],"A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.","[612998, 616516, 612999, 181350, 614302, 310300, 300696]",,,,,Emery-Dreifuss muscular dystrophy,TRUE,FALSE,Active +GARD:6331,Legacy,GARD,,,,,,,,,,,,Empty sella syndrome,TRUE,FALSE,Active +GARD:6332,Active,Orphanet,ORPHA:83600,Disorder,[Disease],Encephalitis lethargica,[Von Economo encephalitis],"A rare brain inflammatory disease characterized by acute or subacute encephalitis with involvement of the midbrain and basal ganglia occurring in children as well as adults. Initial symptoms are pharyngitis and fever, followed by progressive lethargy, sleep disturbances, extrapyramidal symptoms (parkinsonism, chorea, dystonia), neuropsychiatric manifestations (obsessive-compulsive behavior, mutism, catatonia), and ocular features (oculogyric crises). Autoantibodies against human basal ganglia are often positive. Survivors may develop post-encephalitic syndromes, most prominently parkinsonism.",,,,,,Encephalitis lethargica,TRUE,FALSE,Active +GARD:6333,Active,Orphanet,ORPHA:199647,Disorder,[Morphological anomaly],Isolated encephalocele,,"A rare, neural tube closure defect characterized by partial lacking of bone fusion, resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head, but most often affects the occipital area. Depending in the size nad location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia, and hydrocephalus.",,,,,,Encephalocele,TRUE,FALSE,Active +GARD:6335,Legacy,GARD,,,,,,,,,,,,Enchondroma,TRUE,FALSE,Active +GARD:6336,Active,Orphanet,ORPHA:2022,Disorder,[Disease],Endocardial fibroelastosis,[Endomyocardial fibroelastosis],"Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.",[226000],,,,,Endocardial fibroelastosis,TRUE,FALSE,Active +GARD:6337,Active,Orphanet,ORPHA:570762,Disorder,[Disease],Infective endocarditis,"[Bacterial endocarditis, Infectious endocarditis]","A rare bacterial infectious disease characterized by infection of a native or prosthetic heart valve, the endocardial surface, or an indwelling cardiac device. Main causative agents are Gram-positive bacteria, most commonly Staphylococcus and Streptococcus species. Signs and symptoms include high fever or prolonged subfebrile state, excessive sweating, malaise, asthenia, arthralgia, myalgia, weight loss, headache, nausea, dyspnea, cough, heart murmurs, and petechiae of the skin. The most common complications are embolism in different organs and ischemic stroke, sepsis, heart failure, and renal failure.",,,,,,Infective endocarditis,TRUE,FALSE,Active +GARD:6339,Active,Orphanet,ORPHA:213711,Disorder,[Disease],Endometrial stromal sarcoma,[Stromal sarcoma of the corpus uteri],,,,,,,Endometrial stromal sarcoma,TRUE,FALSE,Active +GARD:634,Active,Orphanet,ORPHA:65,Disorder,[Disease],Leber congenital amaurosis,[Amaurosis congenita of Leber],"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.","[615360, 179900, 604232, 604537, 613829, 612712, 613837, 604393, 608553, 618513, 614186, 611755, 204100, 613341, 613826, 613835, 610612, 204000, 613843]",,,,,Leber congenital amaurosis,TRUE,FALSE,Active +GARD:6340,Legacy,GARD,,,,,,,,,,,,Endomyocardial fibrosis,TRUE,FALSE,Active +GARD:6342,Legacy,GARD,,,,,,,,,,,,Enterobiasis,TRUE,FALSE,Retired +GARD:6343,Legacy,GARD,,,,,,,,,,,,Enteropathica,TRUE,FALSE,Active +GARD:6345,Legacy,GARD,,,,,,,,,,,,Eosinophilia-myalgia syndrome,TRUE,FALSE,Active +GARD:6346,Legacy,GARD,,,,,,,,,,,,Eosinophilic cryptitis,TRUE,FALSE,Active +GARD:6347,Legacy,GARD,,,,,,,,,,,,Eosinophilic cystitis,TRUE,FALSE,Active +GARD:635,Active,Orphanet+OMIM,OMIM:204000,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 1,"[lca, retinal blindness, congenital, Amaurosis congenita of leber i]","Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {4:Chung and Traboulsi, 2009}).\n\n<Subhead> Genetic Heterogeneity of Leber Congenital Amaurosis\n\nLCA2 ({204100}) is caused by mutation in the RPE65 gene (RPE65; {180069}) on chromosome 1p31. LCA3 ({604232}) is caused by mutation in the SPATA7 gene ({609868}) on chromosome 14q31. LCA4 ({604393}) is caused by mutation in the AIPL1 gene ({604392}) on chromosome 17p13. LCA5 ({604537}) is caused by mutation in the LCA5 gene ({611408}) on chromosome 6q14. LCA6 ({613826}) is caused by mutation in the RPGRIP1 gene ({605446}) on chromosome 14q11. LCA7 ({613829}) is caused by mutation in the CRX gene ({602225}) on chromosome 19q13. LCA8 ({613835}) is caused by mutation in the CRB1 gene ({604210}) on chromosome 1q31. LCA9 ({608553}) is caused by mutation in the NMNAT1 gene ({608700}) on chromosome 1p36. LCA10 ({611755}) is caused by mutation in the CEP290 gene ({610142}) on chromosome 12q21 and may account for as many as 21% of cases of LCA. LCA11 ({613837}) is caused by mutation in the IMPDH1 gene ({146690}) on chromosome 7q32. LCA12 ({610612}) is caused by mutation in the RD3 gene ({180040}) on chromosome 1q32. LCA13 ({612712}) is caused by mutation in the RDH12 gene ({608830}) on chromosome 14q24. LCA14 ({613341}) is caused by mutation in the LRAT gene ({604863}) on chromosome 4q32. LCA15 ({613843}) is caused by mutation in the TULP1 gene ({602280}) on chromosome 6p21. LCA16 ({614186}) is caused by mutation in the KCNJ13 gene ({603208}) on chromosome 2q37. LCA17 ({615360}) is caused by mutation in the GDF6 gene ({601147}) on chromosome 8q22. LCA18 (see {608133}) is caused by mutation in the PRPH2 gene ({179605}) on chromosome 6p21. LCA19 ({618513}) is caused by mutation in the USP45 gene ({618439}) on chromosome 6q16.\n\n{23:Perrault et al. (1999)} provided a review of Leber congenital amaurosis, with emphasis on genetic heterogeneity.\n\n{34:Wiszniewski et al. (2011)} analyzed 13 known LCA genes in 60 LCA probands, and identified homozygous or compound heterozygous mutations in 42 (70%). In addition, a third disease-associated mutant allele at a second locus was identified in 7 (12%) of the 60 patients. {34:Wiszniewski et al. (2011)} stated that the significance of the third mutated allele was unknown, but suggested that mutational load might be important to penetrance of the LCA phenotype.\n\nBecause LCA manifests very early in life and results in profound vision loss, patients with mutations in other syndromic or nonsyndromic eye disease genes may receive an initial diagnosis of LCA, prior to development of syndromic features or before more thorough phenotyping can be performed (see, e.g., Senior-Loken syndrome-5, {609254}).",[204000],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 1,TRUE,FALSE,Active +GARD:6351,Active,Orphanet,ORPHA:3165,Disorder,[Disease],Eosinophilic fasciitis,"[Diffuse fasciitis with eosinophilia, Shulman syndrome]","A rare idiopathic inflammatory myopathy that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.",[226350],,,,,Eosinophilic fasciitis,TRUE,FALSE,Active +GARD:6352,Legacy,GARD,,,,,,,,,,,,Embryonal tumor with multilayered rosettes,TRUE,FALSE,Active +GARD:6353,Active,Orphanet,ORPHA:251636,Disorder,[Disease],Ependymoma,[Classic ependymoma],"Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.",,,,,,Ependymoma,TRUE,FALSE,Active +GARD:6355,Legacy,GARD,,,,,,,,,,,,Venezuelan equine encephalitis,TRUE,FALSE,Active +GARD:6357,Active,Orphanet,ORPHA:302,Disorder,[Disease],Epidermodysplasia verruciformis,"[Lewandowsky-Lutz syndrome, Lutz-Lewandowsky epidermodysplasia verruciformis]",Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.,"[618231, 618267, 226400, 618309, 305350]",,,,,Epidermodysplasia verruciformis,TRUE,FALSE,Active +GARD:6359,Legacy,GARD,,,,,,,,,,,,Epidermolysis bullosa,TRUE,FALSE,Active +GARD:636,Active,Orphanet+OMIM,OMIM:204100,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 2,[Amaurosis congenita of leber ii],"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {4:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[204100],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 2,TRUE,FALSE,Active +GARD:6360,Active,Orphanet,ORPHA:46487,Disorder,[Disease],Epidermolysis bullosa acquisita,[Acquired epidermolysis bullosa],"A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient's serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of hereditary dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease.",,,,,,Epidermolysis bullosa acquisita,TRUE,FALSE,Active +GARD:6364,Legacy,GARD,,,,,,,,,,,,Epithelial-myoepithelial carcinoma,TRUE,FALSE,Active +GARD:6369,Active,Orphanet,ORPHA:35687,Disorder,[Disease],Erdheim-Chester disease,,"Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.",,,,,,Erdheim-Chester disease,TRUE,FALSE,Active +GARD:637,Active,Orphanet,ORPHA:1021,Disorder,[Disease],Amaurosis-hypertrichosis syndrome,,"A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumaleolar hypertrichosis). There have been no further descriptions in the literature since 1989.",[204110],,,,,Amaurosis congenita cone-rod type with congenital hypertrichosis,TRUE,FALSE,Active +GARD:6370,Legacy,GARD,,,,,,,,,,,,Erysipelas,TRUE,FALSE,Active +GARD:6372,Legacy,GARD,,,,,,,,,,,,Erythema multiforme,TRUE,FALSE,Active +GARD:6377,Active,Orphanet,ORPHA:90026,Disorder,[Disease],Primary erythromelalgia,[Primary erythermalgia],"Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.",[133020],,,,,Erythromelalgia,TRUE,FALSE,Active +GARD:6378,Legacy,GARD,,,,,,,,,,,,Erythroplakia,TRUE,FALSE,Active +GARD:6381,Active,Orphanet,ORPHA:1199,Disorder,[Morphological anomaly],Esophageal atresia,,"A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.",[189960],,,,,Esophageal atresia,TRUE,FALSE,Active +GARD:6383,Active,Orphanet,ORPHA:70482,Group of disorders,[Clinical group],Carcinoma of esophagus,[Esophageal carcinoma],Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).,,,,,,Esophageal cancer,TRUE,FALSE,Active +GARD:6384,Legacy,GARD,,,,,,,,,,,,Esophageal varices,TRUE,FALSE,Active +GARD:6386,Active,Orphanet,ORPHA:91138,Disorder,[Disease],Cryoglobulinemic vasculitis,"[Essential cryoglobulinemia, Essential mixed cryoglobulinemia, Mixed cryoglobulinemia, Primary cryoglobulinemia]","A rare immune complex-mediated vasculitis characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifesting clinically with the classical triad of purpura, weakness and arthralgia.",[123550],,,,,Cryoglobulinemic vasculitis,TRUE,FALSE,Active +GARD:6389,Active,Orphanet,ORPHA:1959,Disorder,[Disease],Evans syndrome,"[Autoimmune hemolytic anemia and autoimmune thrombocytopenia, Immune pancytopenia]","A rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.",,,,,,Evans syndrome,TRUE,FALSE,Active +GARD:6390,Active,Orphanet,ORPHA:319,Disorder,[Disease],Skeletal Ewing sarcoma,[Osseous Ewing sarcoma],Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.,[612219],,,,,Ewing sarcoma,TRUE,FALSE,Active +GARD:6392,Legacy,GARD,,,,,,,,,,,,Exercise-induced anaphylaxis,TRUE,FALSE,Active +GARD:6393,Legacy,GARD,,,,,,,,,,,,Exfoliative dermatitis,TRUE,FALSE,Active +GARD:6394,Legacy,GARD,,,,,,,,,,,,Exogenous lipoid pneumonia,TRUE,FALSE,Active +GARD:6398,Active,Orphanet,ORPHA:93930,Subtype of disorder,[Clinical subtype],Bladder exstrophy,[Classic exstrophy of the bladder],"A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.",[600057],,,,,Exstrophy of the bladder,TRUE,FALSE,Active +GARD:64,Active,Orphanet,ORPHA:3219,Disorder,[Malformation syndrome],Fountain syndrome,"[Deafness-skeletal dysplasia-coarse face with full lips syndrome, Deafness-skeletal dysplasia-lip granuloma syndrome, Hearing loss-skeletal dysplasia-coarse face with full lips syndrome, Hearing loss-skeletal dysplasia-lip granuloma syndrome]","Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.",[229120],,,,,Fountain syndrome,TRUE,FALSE,Active +GARD:640,Active,Orphanet,ORPHA:3319,Disorder,[Disease],Congenital amegakaryocytic thrombocytopenia,[CAMT],An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.,[604498],,,,,Congenital amegakaryocytic thrombocytopenia,TRUE,FALSE,Active +GARD:6400,Active,Orphanet,ORPHA:324,Disorder,[Disease],Fabry disease,"[Alpha-galactosidase A deficiency, Anderson-Fabry disease, Angiokeratoma corporis diffusum, Diffuse angiokeratoma, FD]","A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation.",[301500],,,,,Fabry disease,TRUE,FALSE,Active +GARD:6403,Legacy,GARD,,,,,,,,,,,,Factor V Leiden thrombophilia,FALSE,FALSE,Active +GARD:6404,Active,Orphanet,ORPHA:328,Disorder,[Disease],Congenital factor X deficiency,"[Congenital Stuart factor deficiency, Stuart-Prower factor deficiency]",A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.,[227600],,,,,Factor X deficiency,TRUE,FALSE,Active +GARD:6405,Active,Orphanet,ORPHA:599480,Disorder,[Disease],Acquired hemophilia A,"[AHA, Acquired F8 deficiency, Acquired factor VIII deficiency]",,,,,,,Acquired hemophilia A,TRUE,FALSE,Active +GARD:6406,Active,Orphanet,ORPHA:1980,Disorder,[Disease],Bilateral striopallidodentate calcinosis,"[BSPDC, Cerebrovascular ferrocalcinosis, Idiopathic basal ganglia calcification, PFBC, Primary familial brain calcification]","Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.","[615483, 616413, 618824, 615007, 213600]",,,,,Primary Familial Brain Calcification,TRUE,FALSE,Active +GARD:6407,Legacy,GARD,,,,,,,,,,,,Fairbank disease,TRUE,FALSE,Retired +GARD:6408,Active,Orphanet,ORPHA:733,Disorder,[Disease],Familial adenomatous polyposis,"[Colorectal adenomatous polyposis, FAP, Familial polyposis coli]",Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.,[175100],,,,,Familial adenomatous polyposis,TRUE,FALSE,Active +GARD:641,Legacy,GARD,,,,,,,,,,,,"Brachial amelia, cleft lip, and holoprosencephaly",TRUE,FALSE,Active +GARD:6410,Legacy,GARD,,,,,,,,,,,,Familial deafness,TRUE,FALSE,Active +GARD:6414,Active,Orphanet,ORPHA:444490,Disorder,[Disease],Familial chylomicronemia syndrome,,"A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, constipation, hepatosplenomegaly, eruptive xanthomas, and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis.","[207750, 238600, 615947, 118830]",,,,,Familial chylomicronemia syndrome,TRUE,FALSE,Active +GARD:6416,Legacy,GARD,,,,,,,,,,,,Familial hyperlipo-proteinemia type 1,TRUE,FALSE,Retired +GARD:6418,Legacy,GARD,,,,,,,,,,,,Hyperlipoproteinemia type 4,TRUE,FALSE,Active +GARD:6420,Legacy,GARD,,,,,,,,,,,,Familial hypothyroidism,FALSE,FALSE,Draft +GARD:6421,Active,Orphanet,ORPHA:342,Disorder,[Disease],Familial Mediterranean fever,"[Benign paroxysmal peritonitis, Benign recurrent polyserositis, FMF, Familial paroxysmal polyserositis, Periodic disease]","Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.","[134610, 249100]",,,,,Familial Mediterranean fever,TRUE,FALSE,Active +GARD:6422,Legacy,GARD,,,,,,,,,,,,Familial periodic paralysis,TRUE,FALSE,Active +GARD:6424,Legacy,GARD,,,,,,,,,,,,Familial Treacher Collins syndrome,TRUE,FALSE,Retired +GARD:6425,Active,Orphanet,ORPHA:84,Disorder,[Malformation syndrome],Fanconi anemia,[Fanconi pancytopenia],"A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.","[614083, 600901, 616435, 227645, 300514, 609053, 610832, 227646, 609054, 617243, 617883, 617244, 603467, 613390, 615272, 227650, 614082, 613951, 617247]",,,,,Fanconi anemia,TRUE,FALSE,Active +GARD:6426,Active,Orphanet,ORPHA:333,Disorder,[Disease],Farber disease,"[Acid ceramidase deficiency, Farber lipogranulomatosis]","A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.",[228000],,,,,Farber disease,TRUE,FALSE,Active +GARD:6427,Active,Orphanet,ORPHA:99906,Disorder,[Disease],Farmer's lung disease,,"Farmer's lung disease is the main form of occupational hypersensitivity pneumonitis (see this term), caused by chronic inhalation of microorganisms, often thermophilic actinomycetes and less commonly saccharopolyspora rectivirgula, living in mouldy hay, straw, or grain. It is characterized by variable degrees of dyspnea, cough, tiredness, headaches and occasional fever/night sweats, with acute, sub-acute or chronic clinical course",,,,,,Farmer's lung,TRUE,FALSE,Active +GARD:6428,Legacy,GARD,,,,,,,,,,,,Fascioliasis,TRUE,FALSE,Active +GARD:6429,Active,Orphanet,ORPHA:466,Disorder,[Disease],Fatal familial insomnia,,"A rare inherited human prion disease characterized by adult onset of progressive disturbance and loss of circadian rhythms, dysautonomia with increased sympathetic activity, and cognitive impairment with fluctuating vigilance, impaired long-term memory, disorientation, and oneiric states. Motor disturbances include myoclonus, cerebellar ataxia, and pyramidal signs. The disease rapidly leads to a somnolent or comatose state and is typically fatal after 9 or 30 months on average (bimodal course). Neuropathologic examination shows marked neuronal loss and gliosis predominantly in thalamic nuclei and inferior olives, while deposition of abnormal prion protein may be relatively sparse.",[600072],,,,,Fatal familial insomnia,TRUE,FALSE,Active +GARD:6430,Legacy,GARD,,,,,,,,,,,,Nonalcoholic steatohepatitis,FALSE,FALSE,Active +GARD:6431,Legacy,GARD,,,,,,,,,,,,Fazio-Londe syndrome,TRUE,FALSE,Retired +GARD:6435,Active,Orphanet,ORPHA:1912,Disorder,[Malformation syndrome],Fetal hydantoin syndrome,"[Fetal dihydantoin syndrome, Phenytoin embryofetopathy]","A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.",,,,,,Fetal hydantoin syndrome,TRUE,FALSE,Active +GARD:6439,Legacy,GARD,,,,,,,,,,,,Fibromatosis,FALSE,FALSE,Active +GARD:6444,Active,Orphanet,ORPHA:249,Disorder,[Malformation syndrome],Fibrous dysplasia of bone,,"A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits.",,,,,,Fibrous dysplasia,TRUE,FALSE,Active +GARD:6445,Active,Orphanet,ORPHA:337,Disorder,[Disease],Fibrodysplasia ossificans progressiva,"[FOP, Myositis ossificans progressiva, Stone man syndrome]",Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.,[135100],,,,,Fibrodysplasia ossificans progressiva,TRUE,FALSE,Active +GARD:6447,Active,Orphanet,ORPHA:468726,Disorder,[Disease],Severe primary trimethylaminuria,[TMAU],"A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.",[602079],,,,,Trimethylaminuria,TRUE,FALSE,Active +GARD:645,Active,Orphanet,ORPHA:100031,Subtype of disorder,[Clinical subtype],Hypoplastic amelogenesis imperfecta,[Amelogenesis imperfecta type 1],,"[616221, 617297, 616270, 301201, 104500, 104530, 204650]",,,,,Amelogenesis imperfecta local hypoplastic,TRUE,FALSE,Active +GARD:6450,Active,Orphanet,ORPHA:79292,Subtype of disorder,[Clinical subtype],Fish-eye disease,"[FED, Partial LCAT deficiency]","Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.",[136120],,,,,Fish-eye disease,TRUE,FALSE,Active +GARD:6452,Legacy,GARD,,,,,,,,,,,,Fitz-Hugh-Curtis syndrome,TRUE,FALSE,Active +GARD:6453,Legacy,GARD,,,,,,,,,,,,Flavimonas oryzihabitans infection,TRUE,FALSE,Active +GARD:6454,Legacy,GARD,,,,,,,,,,,,Necrotizing fasciitis,TRUE,FALSE,Active +GARD:6455,Active,Orphanet,ORPHA:2044,Disorder,[Malformation syndrome],Floating-Harbor syndrome,,"A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.",[136140],,,,,Floating-Harbor syndrome,TRUE,FALSE,Active +GARD:6457,Active,Orphanet,ORPHA:2092,Disorder,[Malformation syndrome],Focal dermal hypoplasia,"[Goltz syndrome, Goltz-Gorlin syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism.",[305600],,,,,Focal dermal hypoplasia,TRUE,FALSE,Active +GARD:6458,Legacy,GARD,,,,,,,,,,,,Focal task-specific dystonia,TRUE,FALSE,Active +GARD:646,Active,Orphanet,ORPHA:1031,Disorder,[Malformation syndrome],Enamel-renal syndrome,[Amelogenesis imperfecta-nephrocalcinosis syndrome],"A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.",[204690],,,,,Amelogenesis imperfecta nephrocalcinosis,TRUE,FALSE,Active +GARD:6460,Legacy,GARD,,,,,,,,,,,,Diffuse idiopathic skeletal hyperostosis,FALSE,FALSE,Active +GARD:6462,Legacy,GARD,,,,,,,,,,,,Fox-Fordyce disease,TRUE,FALSE,Active +GARD:6463,Legacy,GARD,,,,,,,,,,,,Hypothalamic obesity,TRUE,FALSE,Active +GARD:6464,Active,Orphanet,ORPHA:908,Disorder,[Malformation syndrome],Fragile X syndrome,"[FRAXA syndrome, FXS, FraX syndrome, Martin-Bell syndrome]","A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.","[311360, 300624]",,,,,Fragile X syndrome,TRUE,FALSE,Active +GARD:6465,Active,Orphanet,ORPHA:2052,Disorder,[Malformation syndrome],Fraser syndrome,[Cryptophthalmos-syndactyly syndrome],"A rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies.","[617666, 219000, 617667]",,,,,Fraser syndrome,TRUE,FALSE,Active +GARD:6466,Active,Orphanet,ORPHA:2053,Disorder,[Malformation syndrome],Freeman-Sheldon syndrome,"[Craniocarpotarsal dysplasia, Craniocarpotarsal dystrophy, Distal arthrogryposis type 2A, Freeman-Burian syndrome, Whistling face syndrome]","A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis.","[193700, 618436, 616266, 277720]",,,,,Freeman-Sheldon syndrome,TRUE,FALSE,Active +GARD:6467,Legacy,GARD,,,,,,,,,,,,Frey's syndrome,TRUE,FALSE,Active +GARD:6468,Active,Orphanet,ORPHA:95,Disorder,[Disease],Friedreich ataxia,"[FA, FRDA]","Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.","[601992, 229300]",,,,,Friedreich ataxia,TRUE,FALSE,Active +GARD:647,Active,Orphanet,ORPHA:1028,Disorder,[Malformation syndrome],Amelo-onycho-hypohidrotic syndrome,"[Ameloonychohypohidrotic ectodermal dysplasia, Ameloonychohypohidrotic syndrome]","A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungueal hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrymal punctae may be occasionally absent. There have been no further descriptions in the literature since 1975.",[104570],,,,,Ameloonychohypohidrotic syndrome,TRUE,FALSE,Active +GARD:6471,Active,Orphanet,ORPHA:2056,Disorder,[Disease],Essential fructosuria,"[Fructokinase deficiency, Ketohexokinase deficiency]","Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.",[229800],,,,,Essential fructosuria,FALSE,FALSE,Active +GARD:6473,Active,Orphanet,ORPHA:349,Disorder,[Disease],Fucosidosis,[Alpha-L-fucosidase deficiency],"Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.",[230000],,,,,Fucosidosis,TRUE,FALSE,Active +GARD:6474,Legacy,GARD,,,,,,,,,,,,Fucosidosis type 1,TRUE,FALSE,Retired +GARD:6475,Active,Orphanet,ORPHA:272,Disorder,[Malformation syndrome],"Congenital muscular dystrophy, Fukuyama type","[FCMD, FKTN-related congenital muscular dystrophy, Fukuyama congenital muscular dystrophy]","Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.",[253800],,,,,Fukuyama type muscular dystrophy,TRUE,FALSE,Active +GARD:6476,Active,Orphanet,ORPHA:24,Disorder,[Disease],Fumaric aciduria,[Fumarase deficiency],"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.",[606812],,,,,Fumarase deficiency,TRUE,FALSE,Active +GARD:6479,Active,Orphanet,ORPHA:79255,Subtype of disorder,[Clinical subtype],GM1 gangliosidosis type 1,"[Infantile GM1 gangliosidosis, Norman-Landing disease]",GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.,[230500],,,,,GM1 gangliosidosis type 1,TRUE,FALSE,Active +GARD:6481,Active,Orphanet,ORPHA:324636,Disorder,[Disease],Autoerythrocyte sensitization syndrome,"[GDS, Gardner-Diamond syndrome, Painful bruising syndrome, Psychogenic purpura]","A rare autoimmune disease with skin involvement characterized by recurrent episodes with isolated or multiple painful edematous inflammatory skin lesions progressing to ecchymoses within 24 hours, due to autosensitization to a stromal component of the patient's own erythrocytes. The development of the lesions is usually preceded by emotional or physical stress, followed by a prodromal stage with fatigue or malaise. Lower limbs and trunk are the most frequently involved sites. Accompanying features may include fever, arthralgia, myalgia, headache, gastrointestinal problems, or hematuria and epistaxis, among others. The disease occurs predominantly in women.",,,,,,Gardner-Diamond syndrome,TRUE,FALSE,Active +GARD:6482,Active,Orphanet,ORPHA:79665,Subtype of disorder,[Clinical subtype],Gardner syndrome,,Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.,[175100],,,,,Gardner syndrome,TRUE,FALSE,Active +GARD:6484,Legacy,GARD,,,,,,,,,,,,Gas bloat syndrome,TRUE,FALSE,Active +GARD:6485,Active,Orphanet,ORPHA:52417,Disorder,[Disease],MALT lymphoma,"[Extranodal marginal zone B-cell lymphoma, MALToma, Mucosa-associated lymphatic tissue lymphoma, Mucosa-associated lymphoid tissue lymphoma]","MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.",[137245],,,,,Gastric lymphoma,TRUE,FALSE,Active +GARD:6491,Legacy,GARD,,,,,,,,,,,,Generalized torsion dystonia,TRUE,FALSE,Retired +GARD:6493,Legacy,GARD,,,,,,,,,,,,Geographic tongue,FALSE,FALSE,Active +GARD:6497,Active,Orphanet,ORPHA:63275,Disorder,[Disease],Pemphigoid gestationis,[Gestational pemphigoid],"A rare autoimmune bullous skin disease characterized by pruritus with or without polymorphic skin eruption, affecting pregnant women typically during the second and third trimester.",,,,,,Pemphigoid gestationis,TRUE,FALSE,Active +GARD:6498,Active,Orphanet,ORPHA:59305,Group of disorders,[Clinical group],Gestational trophoblastic neoplasm,[GTN],"A rare, malignant group of gestational trophoblastic diseases always following pregnancy, most often molar pregnancy (hydatidiform mole). Four histological forms are described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor (PSTT) and epithelioid trophoblastic tumor (ETT).",,,,,,Gestational trophoblastic tumor,TRUE,FALSE,Active +GARD:6499,Legacy,GARD,,,,,,,,,,,,Gianotti Crosti syndrome,TRUE,FALSE,Active +GARD:65,Active,Orphanet,ORPHA:2065,Disorder,[Malformation syndrome],Galloway-Mowat syndrome,"[Galloway syndrome, Microcephaly-hiatus hernia-nephrotic syndrome, Nephrosis-neuronal dysmigration syndrome]","A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.","[618348, 301006, 618349, 617731, 251300, 617729, 617730, 618347]",,,,,Galloway-Mowat syndrome,TRUE,FALSE,Active +GARD:6500,Active,Orphanet,ORPHA:643,Disorder,[Disease],Giant axonal neuropathy,[GAN],"Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.",[256850],,,,,Giant axonal neuropathy,TRUE,FALSE,Active +GARD:6502,Legacy,GARD,,,,,,,,,,,,Giant cell myocarditis,TRUE,FALSE,Active +GARD:6506,Active,Orphanet,ORPHA:99725,Disorder,[Disease],Pituitary gigantism,"[Hypophyseal gigantism, Infantile and juvenile forms of acromegaly]","A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet.",[102200],,,,,Gigantism,TRUE,FALSE,Active +GARD:6507,Legacy,GARD,,,,,,,,,,,,Gilbert syndrome,FALSE,FALSE,Active +GARD:6509,Active,Orphanet+OMIM,OMIM:135300,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 1","[fibromatosis, gingival, hereditary, ggf1, Gingf]","Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva (summary by {7:Hart et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Gingival Fibromatosis\n\nOther loci for gingival fibromatosis have been mapped to chromosome 5q (GINGF2; {605544}), chromosome 2p23.3-p22.3 (GINGF3; {609955}), and chromosome 11p15 (GINGF4; {611010}). GINGF5 ({617626}) is caused by mutation in the REST gene ({600571}) on chromosome 4q12. There is some evidence for a locus on chromosome 2p16-p13 (see MAPPING).",[135300],[2024],[Hereditary gingival fibromatosis],[16582],,"Gingival fibromatosis, 1",TRUE,FALSE,Active +GARD:6513,Active,Orphanet,ORPHA:182067,Group of disorders,[Clinical group],Glial tumor,[Glioma],,"[613031, 137800, 613028, 613032, 613029, 607248, 613033, 613030]",,,,,Glioma,TRUE,FALSE,Active +GARD:6514,Active,Orphanet,ORPHA:251582,Disorder,[Disease],Gliomatosis cerebri,,"A rare glial tumor characterized by extensive infiltration of the brain, often extending to infratentorial structures and even the spinal cord. The tumor corresponds to WHO grade III and is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some tumors develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure, and a variety of neurological deficits. Prognosis is generally poor.",,,,,,Gliomatosis cerebri,TRUE,FALSE,Active +GARD:6516,Legacy,GARD,,,,,,,,,,,,Glomerulonephritis,TRUE,FALSE,Active +GARD:6517,Legacy,GARD,,,,,,,,,,,,Focal segmental glomerulosclerosis,TRUE,FALSE,Active +GARD:6518,Legacy,GARD,,,,,,,,,,,,Glossodynia,TRUE,FALSE,Active +GARD:6519,Active,Orphanet,ORPHA:221098,Disorder,[Disease],Glossopharyngeal neuralgia,,"A rare cranial neuralgia characterized by paroxysmal, usually unilateral stabbing pain within the sensory distributions of the auricular and pharyngeal branches of the glossopharyngeal and sometimes the vagus nerve (i. e. the posterior part of the tongue, the tonsillar fossa, oropharynx, larynx, angle of the mandible, and/or ear). The attacks last seconds to minutes with intervals between the paroxysms ranging from a few minutes to a few hours, and appear in clusters lasting weeks to months, again with irregular intervals in between. Pain attacks are usually triggered by a specific stimulus but may also occur spontaneously. The condition can sometimes be associated with bradycardia, syncope, seizures, and even asystole, and is then termed vagoglossopharyngeal neuralgia.",,,,,,Glossopharyngeal neuralgia,TRUE,FALSE,Active +GARD:652,Legacy,GARD,,,,,,,,,,,,Amebiasis,TRUE,FALSE,Active +GARD:6520,Active,Orphanet,ORPHA:466026,Disorder,[Disease],Class I glucose-6-phosphate dehydrogenase deficiency,"[Class I G6PD deficiency, Severe hemolytic anemia due to G6PD deficiency]","A rare constitutional hemolytic anemia due to an enzyme disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically <10% residual enzyme activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing neonatal jaundice (potentially leading to kernicterus), gallstones, and reticulocytosis and splenomegaly. They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism, which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans, is more common in infants and young children.",[300908],,,,,Glucose-6-phosphate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:6521,Active,Orphanet,ORPHA:35710,Disorder,[Disease],Glucose-galactose malabsorption,[SGLT1 deficiency],"Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.",[606824],,,,,Glucose-galactose malabsorption,TRUE,FALSE,Active +GARD:6522,Active,Orphanet,ORPHA:25,Disorder,[Disease],Glutaryl-CoA dehydrogenase deficiency,"[GA1, GCDHD, Glutaric acidemia type 1, Glutaric aciduria type 1, Glutaryl-coenzyme A dehydrogenase deficiency]",Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.,[231670],,,,,Glutaric acidemia type I,TRUE,FALSE,Active +GARD:6523,Active,Orphanet,ORPHA:26791,Disorder,[Disease],Multiple acyl-CoA dehydrogenase deficiency,"[Glutaric acidemia type 2, Glutaric aciduria type 2, MAD deficiency, MADD]","Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.",[231680],,,,,Glutaric acidemia type II,TRUE,FALSE,Active +GARD:6528,Active,Orphanet,ORPHA:368,Disorder,[Disease],Glycogen storage disease due to muscle glycogen phosphorylase deficiency,"[GSD due to muscle glycogen phosphorylase deficiency, GSD type 5, GSD type V, Glycogen storage disease type 5, Glycogen storage disease type V, Glycogenosis due to muscle glycogen phosphorylase deficiency, Glycogenosis type 5, Glycogenosis type V, McArdle disease, Myophosphorylase deficiency]","Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.",[232600],,,,,Glycogen storage disease type 5,TRUE,FALSE,Active +GARD:6529,Active,Orphanet,ORPHA:369,Disorder,[Disease],Glycogen storage disease due to liver glycogen phosphorylase deficiency,"[GSD due to liver glycogen phosphorylase deficiency, GSD type 6, GSD type VI, Glycogen storage disease type 6, Glycogen storage disease type VI, Glycogenosis due to liver glycogen phosphorylase deficiency, Glycogenosis type 6, Glycogenosis type VI, Hepatic glycogen phosphorylase deficiency, Hepatic phosphorylase deficiency, Hers disease, Liver glycogen phosphorylase deficiency]","Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.",[232700],,,,,Glycogen storage disease type 6,TRUE,FALSE,Active +GARD:6538,Legacy,GARD,,,,,,,,,,,,Glycogen storage disease 8,TRUE,FALSE,Active +GARD:654,Active,Orphanet,ORPHA:1035,Disorder,[Biological anomaly],Beta-mercaptolactate cysteine disulfiduria,"[3-mercaptopyruvate sulfurtransferase deficiency, Ampola syndrome, MCDU]","An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.",[249650],,,,,Ampola syndrome,TRUE,FALSE,Active +GARD:6540,Legacy,GARD,,,,,,,,,,,,Goldenhar disease,TRUE,FALSE,Active +GARD:6542,Active,Orphanet,ORPHA:73,Disorder,[Malformation syndrome],Gorham-Stout disease,"[Gorham disease, Gorham syndrome, Idiopathic massive osteolysis, Progressive massive osteolysis, Vanishing bone disease]",Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.,[123880],,,,,Gorham's disease,TRUE,FALSE,Active +GARD:6543,Active,Orphanet,ORPHA:2500,Disorder,[Malformation syndrome],Acrogeria,"[Acrogeria, Gottron type, Acrometageria, Gottron syndrome]","A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.",[201200],,,,,"Acrogeria, Gottron type",TRUE,FALSE,Active +GARD:6544,Active,Orphanet,ORPHA:99920,Subtype of disorder,[Clinical subtype],Acute graft versus host disease,,,,,,,,Acute graft versus host disease,TRUE,FALSE,Active +GARD:6545,Legacy,GARD,,,,,,,,,,,,Granulocytopenia,TRUE,FALSE,Active +GARD:6546,Legacy,GARD,,,,,,,,,,,,Granuloma annulare,TRUE,FALSE,Active +GARD:6547,Legacy,GARD,,,,,,,,,,,,Granulomatous hypophysitis,TRUE,FALSE,Active +GARD:6548,Legacy,GARD,,,,,,,,,,,,Granulomatous rosacea,TRUE,FALSE,Active +GARD:6549,Legacy,GARD,,,,,,,,,,,,Graves disease,FALSE,FALSE,Active +GARD:6550,Active,Orphanet,ORPHA:380,Disorder,[Malformation syndrome],Greig cephalopolysyndactyly syndrome,[GCPS],"A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome.",[175700],,,,,Greig cephalopolysyndactyly syndrome,TRUE,FALSE,Active +GARD:6551,Legacy,GARD,,,,,,,,,,,,Grover's disease,FALSE,FALSE,Active +GARD:6552,Legacy,GARD,,,,,,,,,,,,Growth hormone deficiency,TRUE,FALSE,Active +GARD:6554,Active,Orphanet,ORPHA:2103,Group of disorders,[Clinical group],Guillain-Barré syndrome,"[GBS, Guillain-Barré-Strohl syndrome]","A clinically heterogeneous spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.",,,,,,Guillain-Barre syndrome,TRUE,FALSE,Active +GARD:6556,Active,Orphanet,ORPHA:414,Disorder,[Disease],Gyrate atrophy of choroid and retina,"[HOGA, Hyperornithinemia, Hyperornithinemia-gyrate atrophy of choroid and retina syndrome, Ornithine aminotransferase deficiency]","Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.",[258870],,,,,Gyrate atrophy of choroid and retina,TRUE,FALSE,Active +GARD:6557,Legacy,GARD,,,,,,,,,,,,Hemangioendothelioma,TRUE,FALSE,Active +GARD:6558,Active,Orphanet,ORPHA:330,Disorder,[Disease],Congenital factor XII deficiency,[Congenital Hageman factor deficiency],"A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.",[234000],,,,,Factor XII deficiency,TRUE,FALSE,Active +GARD:6559,Active,Orphanet,ORPHA:2841,Disorder,[Disease],Familial benign chronic pemphigus,"[Benign chronic familial pemphigus of Hailey-Hailey, Hailey-Hailey disease]","Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).",[169600],,,,,Hailey-Hailey disease,TRUE,FALSE,Active +GARD:656,Legacy,GARD,,,,,,,,,,,,Familial transthyretin amyloidosis,TRUE,FALSE,Active +GARD:6560,Active,Orphanet,ORPHA:58017,Disorder,[Disease],Classic hairy cell leukemia,"[HCL-C, Leukemic reticuloendotheliosis]","A rare, slowly progressive, chronic leukemia characterized by presence of abnormal B-lymphocytes (medium sized with abundant irregular pale cytoplasm, hair-like cytoplasmic projections/ruffled cytoplasmic border, a round or bean-shaped nucleus and absent nucleoli) in the blood or bone marrow, spleen and peripheral blood pancytopenia, notable monocytopenia, and marked susceptibility to infection. The characteristic immunophenotype is CD11c+, CD25+, CD103+ and CD123+ with a BRAF mutation in most cases.",,,,,,Hairy cell leukemia,TRUE,FALSE,Active +GARD:6561,Legacy,GARD,,,,,,,,,,,,Black hairy tongue,FALSE,FALSE,Active +GARD:6562,Legacy,GARD,,,,,,,,,,,,Hajdu-Cheney syndrome,TRUE,FALSE,Retired +GARD:6564,Active,Orphanet,ORPHA:157850,Disorder,[Disease],Pantothenate kinase-associated neurodegeneration,"[Hallervorden-Spatz syndrome, NBIA1, Neurodegeneration with brain iron accumulation type 1, PKAN]","Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.",[234200],,,,,Pantothenate kinase-associated neurodegeneration,TRUE,FALSE,Active +GARD:6567,Legacy,GARD,,,,,,,,,,,,Hand-Schuller-Christian disease,TRUE,FALSE,Retired +GARD:6568,Active,Orphanet,ORPHA:457,Disorder,[Disease],Harlequin ichthyosis,"[HI, Ichthyosis congenita, Harlequin type, Ichthyosis fetalis, Harlequin type]","Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.",[242500],,,,,Harlequin ichthyosis,TRUE,FALSE,Active +GARD:6569,Active,Orphanet,ORPHA:2116,Disorder,[Disease],Hartnup disease,"[Aminoaciduria, Hartnup type, Hartnup disorder]","A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).",[234500],,,,,Hartnup disease,TRUE,FALSE,Active +GARD:657,Legacy,GARD,,,,,,,,,,,,Amyloidosis of gingiva and conjunctiva with intellectual disability,TRUE,FALSE,Active +GARD:6570,Legacy,GARD,,,,,,,,,,,,Hashimoto's syndrome,FALSE,FALSE,Active +GARD:6571,Active,Orphanet,ORPHA:1071,Disorder,[Malformation syndrome],Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,"[AEC syndrome, Hay-Wells syndrome]","An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.",[106260],,,,,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,TRUE,FALSE,Active +GARD:6577,Legacy,GARD,,,,,,,,,,,,Heavy metal poisoning,TRUE,FALSE,Active +GARD:6578,Legacy,GARD,,,,,,,,,,,,Helminthiasis,TRUE,FALSE,Active +GARD:6582,Legacy,GARD,,,,,,,,,,,,Hemifacial microsomia,TRUE,FALSE,Active +GARD:6583,Legacy,GARD,,,,,,,,,,,,Hemiplegia,FALSE,FALSE,Draft +GARD:6584,Active,Orphanet,ORPHA:251365,Disorder,[Disease],Sickle cell-hemoglobin C disease syndrome,[HbSC disease],"A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.",,,,,,Hemoglobin SC disease,TRUE,FALSE,Active +GARD:6588,Active,Orphanet,ORPHA:90038,Subtype of disorder,[Clinical subtype],Shiga toxin-associated hemolytic uremic syndrome,"[D+ HUS, EHEC-HUS, Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli, Hemolytic uremic syndrome with diarrhea, STEC-HUS, Shiga-like toxin-associated HUS, Stx-HUS, Typical HUS, Typical hemolytic uremic syndrome]","A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.",[235400],,,,,Hemolytic uremic syndrome,TRUE,FALSE,Active +GARD:6589,Active,Orphanet,ORPHA:540,Disorder,[Disease],Familial hemophagocytic lymphohistiocytosis,[Familial HLH],Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.,"[603553, 618998, 613101, 608898, 267700, 603552]",,,,,Familial hemophagocytic lymphohistiocytosis,TRUE,FALSE,Active +GARD:6590,Legacy,GARD,,,,,,,,,,,,Hemophagocytic reticulosis,TRUE,FALSE,Active +GARD:6591,Active,Orphanet,ORPHA:98878,Disorder,[Disease],Hemophilia A,"[Congenital F8 deficiency, Congenital FVIII deficiency, Congenital Factor VIII deficiency]",A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.,[306700],,,,,Hemophilia A,TRUE,FALSE,Active +GARD:6592,Legacy,GARD,,,,,,,,,,,,Hemophilic arthropathy,TRUE,FALSE,Active +GARD:6593,Legacy,GARD,,,,,,,,,,,,Hemorrhagic fever,TRUE,FALSE,Retired +GARD:6594,Active,Orphanet,ORPHA:3318,Disorder,[Disease],Essential thrombocythemia,"[ET, Essential thrombocytosis]","Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.","[614521, 187950, 601977]",,,,,Essential thrombocythemia,TRUE,FALSE,Active +GARD:6595,Legacy,GARD,,,,,,,,,,,,Hemosiderosis,TRUE,FALSE,Active +GARD:6597,Legacy,GARD,,,,,,,,,,,,Hepadnavirus infection,TRUE,FALSE,Retired +GARD:66,Active,Orphanet,ORPHA:2095,Disorder,[Malformation syndrome],Gorlin-Chaudhry-Moss syndrome,"[Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome, Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome, Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome, GCM syndrome]","Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.",[612289],,,,,Gorlin Chaudhry Moss syndrome,TRUE,FALSE,Active +GARD:660,Legacy,GARD,,,,,,,,,,,,Amyoplasia mandibulofacial dysostosis,TRUE,FALSE,Retired +GARD:6608,Active,Orphanet,ORPHA:210159,Disorder,[Disease],Adult hepatocellular carcinoma,[Adult HCC],"A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.",[114550],,,,,Primary liver cancer,TRUE,FALSE,Active +GARD:6610,Legacy,GARD,,,,,,,,,,,,Hepatorenal syndrome,TRUE,FALSE,Active +GARD:6611,Active,Orphanet,ORPHA:444116,Group of disorders,[Category],Hereditary amyloidosis,,,,,,,,Hereditary amyloidosis,TRUE,FALSE,Active +GARD:6614,Legacy,GARD,,,,,,,,,,,,Hereditary ataxia,TRUE,FALSE,Active +GARD:6616,Legacy,GARD,,,,,,,,,,,,Myopathic carnitine deficiency,TRUE,FALSE,Active +GARD:6618,Active,Orphanet,ORPHA:228357,Subtype of disorder,[Etiological subtype],CLN9 disease,,,[609055],,,,,Neuronal ceroid lipofuscinosis 9,TRUE,FALSE,Active +GARD:6619,Active,Orphanet,ORPHA:79273,Disorder,[Disease],Hereditary coproporphyria,,"Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.",[121300],,,,,Hereditary coproporphyria,TRUE,FALSE,Active +GARD:6621,Active,Orphanet,ORPHA:288,Disorder,[Disease],Hereditary elliptocytosis,[HE],Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.,"[611804, 617948, 130600, 235370]",,,,,Hereditary elliptocytosis,TRUE,FALSE,Active +GARD:6622,Active,Orphanet,ORPHA:469,Disorder,[Disease],Hereditary fructose intolerance,"[Hereditary fructose-1-phosphate aldolase deficiency, Hereditary fructosemia]","Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.",[229600],,,,,Hereditary fructose intolerance,TRUE,FALSE,Active +GARD:6626,Active,Orphanet,ORPHA:774,Disorder,[Disease],Hereditary hemorrhagic telangiectasia,"[HHT, Rendu-Osler disease, Rendu-Osler-Weber disease]",An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations.,"[601101, 187300, 600376, 610655, 615506]",,,,,Hereditary hemorrhagic telangiectasia,TRUE,FALSE,Active +GARD:6627,Legacy,GARD,,,,,,,,,,,,Hereditary hyperuricemia,TRUE,FALSE,Retired +GARD:6632,Active,Orphanet,ORPHA:676,Disorder,[Disease],Hereditary chronic pancreatitis,,"A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas.",[167800],,,,,Hereditary pancreatitis,TRUE,FALSE,Active +GARD:6633,Legacy,GARD,,,,,,,,,,,,Hereditary paroxysmal cerebral ataxia,TRUE,FALSE,Retired +GARD:6634,Legacy,GARD,,,,,,,,,,,,Hereditary peripheral nervous disorder,TRUE,FALSE,Retired +GARD:6635,Active,Orphanet,ORPHA:36386,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 1,"[HSAN1, Hereditary sensory and autonomic neuropathy type I]","Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.","[615632, 162400, 613708, 613640]",,,,,Hereditary sensory neuropathy type 1,TRUE,FALSE,Active +GARD:6637,Active,Orphanet,ORPHA:685,Group of disorders,[Clinical group],Hereditary spastic paraplegia,"[Familial spastic paraplegia, HSP, Hereditary spastic paraparesis, SPG, Strümpell-Lorrain disease]","A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features.",,,,,,Hereditary spastic paraplegia,TRUE,FALSE,Active +GARD:6639,Active,Orphanet,ORPHA:822,Disorder,[Disease],Hereditary spherocytosis,[Minkowski-Chauffard disease],"Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.","[612653, 616649, 612690, 182900, 270970]",,,,,Hereditary spherocytosis,TRUE,FALSE,Active +GARD:664,Active,Orphanet,ORPHA:142,Disorder,[Disease],Anaplastic thyroid carcinoma,,A disorder that represents the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.,,,,,,Anaplastic thyroid cancer,TRUE,FALSE,Active +GARD:6640,Legacy,GARD,,,,,,,,,,,,Hereditary type 1 neuropathy,TRUE,FALSE,Retired +GARD:6641,Legacy,GARD,,,,,,,,,,,,Hereditary type 2 neuropathy,TRUE,FALSE,Retired +GARD:6643,Active,Orphanet,ORPHA:79430,Disorder,[Disease],Hermansky-Pudlak syndrome,[HPS],"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.","[614072, 203300, 614171, 619172, 614073, 614076, 608233, 614077, 614074, 617050, 614075]",,,,,Hermansky-Pudlak syndrome,TRUE,FALSE,Active +GARD:6649,Active,Orphanet,ORPHA:1930,Disorder,[Disease],Herpes simplex virus encephalitis,"[HSE, HSV encephalitis, HSVE, Herpes simplex meningo-encephalitis, Herpes simplex neuroinvasion, Herpetic encephalitis]","A rare disorder caused by infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. This disorder often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.","[610551, 614849, 613002, 614850, 617900, 616532]",,,,,Herpes simplex encephalitis,TRUE,FALSE,Active +GARD:6654,Legacy,GARD,,,,,,,,,,,,Herpesvirus simiae B virus infection,TRUE,FALSE,Active +GARD:6657,Active,Orphanet,ORPHA:396,Disorder,[Disease],Chronic hiccup,,Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.,,,,,,Chronic hiccups,TRUE,FALSE,Active +GARD:6658,Legacy,GARD,,,,,,,,,,,,Hidradenitis suppurativa,FALSE,FALSE,Active +GARD:6659,Legacy,GARD,,,,,,,,,,,,Developmental dysplasia of hip,FALSE,FALSE,Active +GARD:6660,Active,Orphanet,ORPHA:388,Disorder,[Disease],Hirschsprung disease,"[Aganglionic megacolon, Colonic aganglionosis, Congenital intestinal aganglionosis, HSCR]",A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.,"[600156, 142623, 611644, 608462, 606875, 606874, 613711, 600155, 613712]",,,,,Hirschsprung disease,TRUE,FALSE,Active +GARD:6661,Active,Orphanet,ORPHA:2157,Disorder,[Disease],Histidinemia,"[HAL deficiency, HIS deficiency, Histidase deficiency, Histidine ammonia-lyase deficiency, Histidinuria, Hyperhistidinemia]","Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.",[235800],,,,,Histidinemia,TRUE,FALSE,Active +GARD:6665,Active,Orphanet,ORPHA:2162,Disorder,[Malformation syndrome],Holoprosencephaly,[HPE],"A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity.","[605934, 609637, 610828, 612530, 614226, 610829, 142945, 236100, 142946, 147250, 157170, 609408]",,,,,Holoprosencephaly,TRUE,FALSE,Active +GARD:6666,Active,Orphanet,ORPHA:392,Disorder,[Malformation syndrome],Holt-Oram syndrome,"[Atriodigital dysplasia type 1, HOS, Heart-hand syndrome type 1]",A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.,[142900],,,,,Holt-Oram syndrome,TRUE,FALSE,Active +GARD:6667,Active,Orphanet,ORPHA:394,Disorder,[Disease],Classic homocystinuria,"[Cystathionine beta-synthase deficiency, Homocystinuria due to cystathionine beta-synthase deficiency]","Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.",[236200],,,,,Homocystinuria due to CBS deficiency,TRUE,FALSE,Active +GARD:6668,Legacy,GARD,,,,,,,,,,,,Homologous wasting disease,TRUE,FALSE,Active +GARD:667,Legacy,GARD,,,,,,,,,,,,Sideroblastic anemia,FALSE,FALSE,Active +GARD:6670,Active,Orphanet,ORPHA:91413,Disorder,[Disease],Congenital Horner syndrome,[Congenital Claude-Bernard-Horner syndrome],"Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.",[143000],,,,,Horner's syndrome,TRUE,FALSE,Active +GARD:6675,Active,Orphanet,ORPHA:580,Disorder,[Disease],Mucopolysaccharidosis type 2,"[Hunter syndrome, Iduronate 2-sulfatase deficiency, MPS2, MPSII, Mucopolysaccharidosis type II]","A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.",[309900],,,,,Mucopolysaccharidosis type II,TRUE,FALSE,Active +GARD:6677,Active,Orphanet,ORPHA:399,Disorder,[Disease],Huntington disease,[Huntington chorea],"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.",[143100],,,,,Huntington disease,TRUE,FALSE,Active +GARD:668,Active,Orphanet,ORPHA:2802,Disorder,[Disease],X-linked sideroblastic anemia and spinocerebellar ataxia,"[Pagon-Bird-Detter syndrome, X-linked sideroblastic anemia with ataxia, XLSA-A]","A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.",[301310],,,,,Anemia sideroblastic and spinocerebellar ataxia,TRUE,FALSE,Active +GARD:6681,Active,Orphanet,ORPHA:2177,Disorder,[Malformation syndrome],Hydranencephaly,,"A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical.",,,,,,Hydranencephaly,TRUE,FALSE,Active +GARD:6682,Active,Orphanet,ORPHA:2185,Disorder,[Malformation syndrome],Congenital hydrocephalus,,A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly.,"[236600, 615219]",,,,,Congenital hydrocephalus,TRUE,FALSE,Active +GARD:6683,Active,Orphanet,ORPHA:2189,Disorder,[Malformation syndrome],Hydrolethalus,,"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.","[614120, 236680]",,,,,Hydrolethalus syndrome,TRUE,FALSE,Active +GARD:6684,Legacy,GARD,,,,,,,,,,,,Hyper-reninism,TRUE,FALSE,Retired +GARD:669,Legacy,GARD,,,,,,,,,,,,Anencephaly and spina bifida X-linked,TRUE,FALSE,Active +GARD:6692,Legacy,GARD,,,,,,,,,,,,Hypercementosis,TRUE,FALSE,Active +GARD:67,Legacy,GARD,,,,,,,,,,,,"Gouty nephropathy, familial",TRUE,FALSE,Retired +GARD:670,Active,Orphanet,ORPHA:1054,Disorder,[Morphological anomaly],Aneurysm of sinus of Valsalva,,"A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.",,,,,,Aneurysm of sinus of Valsalva,TRUE,FALSE,Active +GARD:6702,Legacy,GARD,,,,,,,,,,,,Hyperlipoproteinemia type 2,FALSE,FALSE,Retired +GARD:6703,Active,Orphanet,ORPHA:412,Disorder,[Disease],Dysbetalipoproteinemia,"[Broad-beta disease, Familial dyslipidemia type 3, HLP type 3, Hyperlipidemia type 3, Hyperlipoproteinemia type 3, Remnant hyperlipoproteinemia]","A rare combined hyperlipidemia (HLP type 3) characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of progressive atherosclerosis and premature cardiovascular disease.",[617347],,,,,Hyperlipidemia type 3,TRUE,FALSE,Active +GARD:6704,Active,Orphanet,ORPHA:530849,Subtype of disorder,[Etiological subtype],Familial apolipoprotein A5 deficiency,"[Familial APOA5 deficiency, Familial apolipoprotein A-V deficiency]",,[144650],,,,,Hyperlipoproteinemia type 5,TRUE,FALSE,Active +GARD:671,Active,Orphanet,ORPHA:63442,Disorder,[Malformation syndrome],Angel-shaped phalango-epiphyseal dysplasia,[ASPED],"A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.",[105835],,,,,Angel shaped phalangoepiphyseal dysplasia,TRUE,FALSE,Active +GARD:6710,Active,Orphanet,ORPHA:79101,Disorder,[Disease],Hyperprolinemia type 2,[Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency],"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.",[239510],,,,,Hyperprolinemia type 2,TRUE,FALSE,Active +GARD:6717,Legacy,GARD,,,,,,,,,,,,Hypertrophic branchial myopathy,TRUE,FALSE,Active +GARD:672,Legacy,GARD,,,,,,,,,,,,Angiofollicular ganglionic hyperplasia,TRUE,FALSE,Retired +GARD:6722,Legacy,GARD,,,,,,,,,,,,Hypoadrenalism,TRUE,FALSE,Retired +GARD:6724,Active,Orphanet,ORPHA:429,Disorder,[Disease],Hypochondroplasia,,"A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.",[146000],,,,,Hypochondroplasia,TRUE,FALSE,Active +GARD:6725,Active,Orphanet,ORPHA:36412,Disorder,[Disease],Hypocomplementemic urticarial vasculitis,"[Anti-C1q vasculitis, Mac Duffie hypocomplementemic urticarial vasculitis, Mac Duffie syndrome, McDuffie hypocomplementemic urticarial vasculitis, McDuffie syndrome]","A rare immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C3, C4 and/or C1q), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation are common systemic manifestations.",,,,,,Hypocomplementemic urticarial vasculitis,TRUE,FALSE,Active +GARD:6729,Active,Orphanet,ORPHA:681,Disorder,[Disease],Hypokalemic periodic paralysis,[Westphall disease],"A rare genetic, muscle channelopathy characterized by recurrent episodic attacks of generalized muscle weakness associated with a decrease in blood potassium levels.","[613345, 170400]",,,,,Hypokalemic periodic paralysis,TRUE,FALSE,Active +GARD:673,Legacy,GARD,,,,,,,,,,,,Angiofollicular lymph hyperplasia,TRUE,FALSE,Retired +GARD:6730,Legacy,GARD,,,,,,,,,,,,Hypoketonemic hypoglycemia,TRUE,FALSE,Retired +GARD:6731,Legacy,GARD,,,,,,,,,,,,Hypomelanotic disorder,TRUE,FALSE,Active +GARD:6733,Legacy,GARD,,,,,,,,,,,,Hypoparathyroidism,TRUE,FALSE,Active +GARD:6734,Active,Orphanet,ORPHA:436,Disorder,[Disease],Hypophosphatasia,"[HPP, Phosphoethanolaminuria, Rathbun disease]","A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood.","[241500, 241510, 146300]",,,,,Hypophosphatasia,TRUE,FALSE,Active +GARD:6735,Active,Orphanet,ORPHA:437,Group of disorders,[Clinical group],Hypophosphatemic rickets,,"A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities.",,,,,,Hypophosphatemic rickets,TRUE,FALSE,Active +GARD:6737,Active,Orphanet+OMIM,OMIM:312000,Subtype of disorder,[Disease subtype],"Panhypopituitarism, x-linked","[Pituitary dwarfism iv, formerly]",,[312000],[90695],[Non-acquired panhypopituitarism],[15020],,Panhypopituitarism X-linked,TRUE,FALSE,Active +GARD:6738,Legacy,GARD,,,,,,,,,,,,Hypoplasia of the tibia with polydactyly,TRUE,FALSE,Active +GARD:6739,Active,Orphanet,ORPHA:2248,Disorder,[Morphological anomaly],Hypoplastic left heart syndrome,[HLHS],"A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.","[241550, 614435]",,,,,Hypoplastic left heart syndrome,TRUE,FALSE,Active +GARD:674,Legacy,GARD,,,,,,,,,,,,Angiokeratoma mental retardation coarse face,TRUE,FALSE,Retired +GARD:6740,Legacy,GARD,,,,,,,,,,,,Hyporeninemic hypoaldosteronism,TRUE,FALSE,Retired +GARD:6749,Active,Orphanet,ORPHA:576,Disorder,[Disease],Mucolipidosis type II,"[I-cell disease, Mucolipidosis type II alpha/beta, N-acetylglucosamine 1-phosphotransferase deficiency]","A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay.",[252500],,,,,I cell disease,TRUE,FALSE,Active +GARD:6752,Legacy,GARD,,,,,,,,,,,,Ichthyosis vulgaris,TRUE,FALSE,Active +GARD:6755,Legacy,GARD,,,,,,,,,,,,Idiopathic alveolar hypoventilation syndrome,TRUE,FALSE,Active +GARD:6757,Active,Orphanet,ORPHA:1676,Disorder,[Disease],Idiopathic pulmonary artery dilatation,,"Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.",,,,,,Idiopathic dilatation of the pulmonary artery,TRUE,FALSE,Active +GARD:6759,Legacy,GARD,,,,,,,,,,,,Idiopathic edema,FALSE,FALSE,Active +GARD:676,Active,Orphanet,ORPHA:1062,Disorder,[Disease],Hereditary neurocutaneous malformation,,"A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988.",[106070],,,,,Angioma hereditary neurocutaneous,TRUE,FALSE,Active +GARD:6760,Active,Orphanet,ORPHA:85193,Disorder,[Malformation syndrome],Idiopathic juvenile osteoporosis,"[IJO, Juvenile osteoporosis]","Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.","[259750, 615221]",,,,,Juvenile osteoporosis,TRUE,FALSE,Active +GARD:6763,Active,Orphanet,ORPHA:99931,Disorder,[Disease],Idiopathic pulmonary hemosiderosis,,"Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.","[178550, 235500]",,,,,Idiopathic pulmonary hemosiderosis,TRUE,FALSE,Active +GARD:6768,Legacy,GARD,,,,,,,,,,,,Immune thrombocytopenia,TRUE,FALSE,Active +GARD:6769,Legacy,GARD,,,,,,,,,,,,Imperforate anus,TRUE,FALSE,Active +GARD:6770,Legacy,GARD,,,,,,,,,,,,Inborn amino acid metabolism disorder,TRUE,FALSE,Active +GARD:6774,Legacy,GARD,,,,,,,,,,,,Inborn renal aminoaciduria,TRUE,FALSE,Active +GARD:6777,Legacy,GARD,,,,,,,,,,,,Inclusion conjunctivitis,TRUE,FALSE,Active +GARD:6778,Active,Orphanet,ORPHA:464,Disorder,[Malformation syndrome],Incontinentia pigmenti,"[Bloch-Siemens syndrome, Bloch-Sulzberger syndrome]","An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality.",[308300],,,,,Incontinentia pigmenti,TRUE,FALSE,Active +GARD:6779,Active,Orphanet,ORPHA:70590,Disorder,[Disease],Infantile apnea,"[Apnea in full-term infants, Apnea of infancy]","Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.",,,,,,Infantile apnea,TRUE,FALSE,Active +GARD:6781,Legacy,GARD,,,,,,,,,,,,Infectious arthritis,TRUE,FALSE,Active +GARD:6782,Legacy,GARD,,,,,,,,,,,,Infectious myocarditis,TRUE,FALSE,Active +GARD:6784,Legacy,GARD,,,,,,,,,,,,Inflammatory breast cancer,TRUE,FALSE,Active +GARD:6786,Legacy,GARD,,,,,,,,,,,,Intercellular cholesterol esterification disease,TRUE,FALSE,Retired +GARD:6787,Legacy,GARD,,,,,,,,,,,,Interstitial cystitis,FALSE,FALSE,Active +GARD:6789,Legacy,GARD,,,,,,,,,,,,Intestinal pseudo-obstruction,TRUE,FALSE,Active +GARD:679,Legacy,GARD,,,,,,,,,,,,"Angiomatosis, leptomeningeal capillary venous",TRUE,FALSE,Retired +GARD:6791,Active,Orphanet,ORPHA:263479,Disorder,[Disease],Fuchs heterochromic iridocyclitis,[FHI],"Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.",,,,,,Fuchs heterochromic iridocyclitis,TRUE,FALSE,Active +GARD:6793,Active,Orphanet,ORPHA:84142,Disorder,[Disease],Isaacs syndrome,"[Continuous muscle fiber activity syndrome, Isaacs-Mertens syndrome, Quantal squander syndrome]","Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.",,,,,,Isaacs' syndrome,TRUE,FALSE,Active +GARD:6795,Active,Orphanet,ORPHA:97548,Disorder,[Malformation syndrome],Right sided atrial isomerism,"[Isomerism of right atrial appendage, Ivemark syndrome, RAI]","A rare heterotaxia characterized by complex congenital heart malformations and abnormal lateralization of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor.",[208530],,,,,Ivemark syndrome,TRUE,FALSE,Active +GARD:6796,Active,Orphanet,ORPHA:1540,Disorder,[Malformation syndrome],Jackson-Weiss syndrome,"[Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome, JWS]","Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.",[123150],,,,,Jackson-Weiss syndrome,TRUE,FALSE,Active +GARD:6797,Active,Orphanet,ORPHA:79139,Disorder,[Disease],Japanese encephalitis,,Japanese encephalitis is an arboviral disease (i.e. a disease due to a virus transmitted by an arthropod).,,,,,,Japanese encephalitis,TRUE,FALSE,Active +GARD:6798,Active,Orphanet,ORPHA:2311,Disorder,[Malformation syndrome],Autosomal recessive spondylocostal dysostosis,[Jarcho-Levin syndrome],"A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.","[616566, 609813, 613686, 277300, 608681]",,,,,Spondylothoracic dysostosis,TRUE,FALSE,Active +GARD:6799,Legacy,GARD,,,,,,,,,,,,Jejunal atresia,TRUE,FALSE,Active +GARD:68,Active,Orphanet,ORPHA:989,Disorder,[Malformation syndrome],Hypoglossia-hypodactyly syndrome,"[Aglossia-adactylia syndrome, Hanhart syndrome, Jussieu syndrome]","A rare disease characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations.",[103300],,,,,Hanhart syndrome,TRUE,FALSE,Active +GARD:6800,Active,Orphanet,ORPHA:2314,Disorder,[Disease],Autosomal dominant hyper-IgE syndrome,"[AD-HIES, Autosomal dominant HIES, Autosomal dominant hyperimmunoglobulin E syndrome, Buckley syndrome, Hyperimmunoglobulin E syndrome type 1, Hyperimmunoglobulin E-recurrent infection syndrome, Job syndrome, STAT3 deficiency]","A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.",[147060],,,,,Autosomal dominant hyper IgE syndrome,TRUE,FALSE,Active +GARD:6801,Active,Orphanet,ORPHA:98757,Disorder,[Disease],Spinocerebellar ataxia type 3,"[Azorean disease of the nervous system, MJD, Machado disease, Machado-Joseph disease, Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia, SCA3]","Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.",[109150],,,,,Spinocerebellar ataxia 3,TRUE,FALSE,Active +GARD:6802,Active,Orphanet,ORPHA:475,Disorder,[Malformation syndrome],Joubert syndrome,"[CPD IV, Cerebelloparenchymal disorder IV, Classic Joubert syndrome, Joubert syndrome type A, Joubert-Boltshauser syndrome, Pure Joubert syndrome]","A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.","[614424, 615636, 213300, 616784, 614970, 616654, 612291, 614615, 617120, 610688, 617121, 614173, 614464, 617622, 616490, 617761, 616781, 618161, 619185]",,,,,Joubert syndrome,TRUE,FALSE,Active +GARD:6803,Legacy,GARD,,,,,,,,,,,,Jumping Frenchmen of Maine,TRUE,FALSE,Active +GARD:6805,Active,Orphanet,ORPHA:93672,Disorder,[Disease],Juvenile dermatomyositis,[Juvenile DM],"An early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder with vasculopathy, characterized by proximal and symmetrical muscle weakness, evocative skin lesions, and systemic manifestations. Vasculopathy occurs in the skin, muscle (mainly in the perifascicular area), and sometimes in the intestinal tissue.",,,,,,Juvenile dermatomyositis,TRUE,FALSE,Active +GARD:6806,Legacy,GARD,,,,,,,,,,,,Familial juvenile hyperuricaemic nephropathy,TRUE,FALSE,Retired +GARD:6807,Active,Orphanet,ORPHA:2176,Subtype of disorder,[Clinical subtype],Infantile systemic hyalinosis,,"Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.",[228600],,,,,Hyaline fibromatosis syndrome,TRUE,FALSE,Active +GARD:6808,Active,Orphanet,ORPHA:307,Disorder,[Disease],Juvenile myoclonic epilepsy,"[JME, Juvenile myoclonus epilepsy]","Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).","[604827, 617924, 611136, 607682, 613060, 614280, 254770, 607628, 608816, 611364]",,,,,Juvenile myoclonic epilepsy,TRUE,FALSE,Active +GARD:6810,Active,Orphanet,ORPHA:2322,Disorder,[Malformation syndrome],Kabuki syndrome,"[Kabuki make-up syndrome, Niikawa-Kuroki syndrome]","A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly V, spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad eyebrows, long palpebral fissures, eversion of the lower eyelid, large prominent, cupped ears, depressed nasal tip and short columella). Various additional features are frequently observed.","[147920, 300867]",,,,,Kabuki syndrome,TRUE,FALSE,Active +GARD:6811,Legacy,GARD,,,,,,,,,,,,Kallikrein hypertension,TRUE,FALSE,Active +GARD:6814,Active,Orphanet,ORPHA:33276,Disorder,[Disease],Kaposi sarcoma,,"A rare vascular tumor that is characterized by human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops with various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.",[148000],,,,,Kaposi sarcoma,TRUE,FALSE,Active +GARD:6815,Legacy,GARD,,,,,,,,,,,,Kartagener syndrome,TRUE,FALSE,Active +GARD:6816,Active,Orphanet,ORPHA:2331,Disorder,[Disease],Kawasaki disease,[Mucocutaneous lymph node syndrome],"A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated.",[611775],,,,,Kawasaki disease,TRUE,FALSE,Active +GARD:6817,Active,Orphanet,ORPHA:480,Disorder,[Disease],Kearns-Sayre syndrome,,"A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.",[530000],,,,,Kearns-Sayre syndrome,TRUE,FALSE,Active +GARD:6818,Active,Orphanet,ORPHA:481,Disorder,[Disease],Kennedy disease,"[SBMA, SMAX1, X-linked BSMA, X-linked bulbospinal amyotrophy, X-linked bulbospinal muscular atrophy, X-linked spinal and bulbar muscular atrophy]","Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.",[313200],,,,,Kennedy disease,TRUE,FALSE,Active +GARD:6819,Legacy,GARD,,,,,,,,,,,,Herpetic keratitis,FALSE,FALSE,Retired +GARD:6821,Active,Orphanet,ORPHA:587,Disorder,[Disease],Muir-Torre syndrome,"[Multiple keratoacanthoma, Muir-Torre type]","A form of hereditary nonpolyposis colon cancer characterized by the development of cutaneous sebaceous neoplasia and at least one visceral malignancy, most frequently gastrointestinal carcinoma. The malignancies are usually multiple, occur at an early age, but tend to be of low-grade and have a relatively low incidence of metastases. Sebaceous tumors are usually multiple, with sebaceous adenomas being the commonest. Multiple keratoacanthomas, usually located on the face or the trunk, have been reported as a feature. Cutaneous tumors may precede or follow the first presentation of internal malignancy, which usually involves the gastrointestinal tract, the breast or the genitourinary tract.",[158320],,,,,Muir-Torre syndrome,TRUE,FALSE,Active +GARD:6824,Legacy,GARD,,,,,,,,,,,,Keratoconus,TRUE,FALSE,Active +GARD:6825,Legacy,GARD,,,,,,,,,,,,Keratomalacia,TRUE,FALSE,Active +GARD:6829,Active,Orphanet,ORPHA:2340,Disorder,[Disease],Keratosis follicularis spinulosa decalvans,,"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.","[308800, 612843, 604093]",,,,,Keratosis follicularis spinulosa decalvans,TRUE,FALSE,Active +GARD:683,Active,Orphanet,ORPHA:74,Disorder,[Disease],Angiostrongyliasis,,"A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.",,,,,,Angiostrongyliasis,TRUE,FALSE,Active +GARD:6830,Active,Orphanet,ORPHA:415286,Group of disorders,[Clinical group],Bilirubin encephalopathy,[Kernicterus],,,,,,,Kernicterus,TRUE,FALSE,Active +GARD:6834,Active,Orphanet,ORPHA:50918,Disorder,[Disease],Kikuchi-Fujimoto disease,"[Histiocytic necrotizing lymphadenitis, Kikuchi disease]","Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.",,,,,,Kikuchi disease,TRUE,FALSE,Active +GARD:6835,Active,Orphanet,ORPHA:482,Disorder,[Disease],Kimura disease,[Eosinophilic lymphogranuloma],"Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.",,,,,,Kimura disease,TRUE,FALSE,Active +GARD:6838,Legacy,GARD,,,,,,,,,,,,Segmentation syndrome 1,TRUE,FALSE,Active +GARD:6840,Active,Orphanet,ORPHA:157823,Disorder,[Clinical syndrome],Klüver-Bucy syndrome,,"A rare neurologic disease characterized by visual agnosia, hyperorality (strong tendency to examine objects orally), hypermetamorphosis (described as the irresistible impulse to notice and react to everything within sight), hypersexuality, changes in dietary habits and hyperphagia, placidity, and amnesia, due to bilateral lesions of the temporal lobe including the hippocampus and amygdala.",,,,,,Kluver Bucy syndrome,TRUE,FALSE,Active +GARD:6841,Active,Orphanet,ORPHA:485,Disorder,[Disease],Kniest dysplasia,,"Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).",[156550],,,,,Kniest dysplasia,TRUE,FALSE,Active +GARD:6842,Active,Orphanet,ORPHA:563991,Disorder,[Disease],Osteochondrosis of the tarsal bone,"[Aseptic necrosis of the tarsal bone, Avascular necrosis of the tarsal bone, Kohler disease]","A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.",,,,,,Kohler disease,TRUE,FALSE,Active +GARD:6843,Legacy,GARD,,,,,,,,,,,,Wernicke-Korsakoff syndrome,TRUE,FALSE,Active +GARD:6844,Active,Orphanet,ORPHA:487,Disorder,[Disease],Krabbe disease,"[GALC deficiency, Galactocerebrosidase deficiency, Galactosylceramidase deficiency, Globoid cell leukodystrophy]","A rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterized by neurodegeneration with severity depending on the age of onset (infantile, late-infantile, juvenile, adolescent and adulthood).","[245200, 611722]",,,,,Krabbe disease,TRUE,FALSE,Active +GARD:6845,Active,Orphanet,ORPHA:228340,Subtype of disorder,[Etiological subtype],CLN4A disease,,,[204300],,,,,Autosomal recessive neuronal ceroid lipofuscinosis 4A,TRUE,FALSE,Active +GARD:6848,Active,Orphanet,ORPHA:2363,Disorder,[Malformation syndrome],Lacrimoauriculodentodigital syndrome,"[LADD syndrome, LARD syndrome, Lacrimoauriculoradiodental syndrome, Levy-Hollister syndrome]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system, anomalies of the ears with sensorineural or mixed hearing loss, hypoplasia, aplasia or atresia of the salivary glands, dental anomalies, and digital malformations. Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. Dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. The digital features are variable and include fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and/or syndactyly. Unilateral radial aplasia and radial-ulnar synostosis have also been reported in association.",[149730],,,,,Lacrimo-auriculo-dento-digital syndrome,TRUE,FALSE,Active +GARD:685,Active,Orphanet,ORPHA:1069,Disorder,[Malformation syndrome],Aniridia-absent patella syndrome,,"A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.",[106220],,,,,Aniridia absent patella,TRUE,FALSE,Active +GARD:6851,Active,Orphanet,ORPHA:43393,Disorder,[Disease],Lambert-Eaton myasthenic syndrome,,"Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).",,,,,,Lambert Eaton myasthenic syndrome,TRUE,FALSE,Active +GARD:6855,Active,Orphanet,ORPHA:98818,Disorder,[Disease],Landau-Kleffner syndrome,"[Acquired epileptic aphasia, LKS]",Landau-Kleffner syndrome (LKS) is an age-related epileptic encephalopathy where developmental regression occurs mainly in the language domain and the electroencephalographic (EEG) abnormalities are mainly localized around the temporal-parietal regions. The term acquired epileptic aphasia describes the main features of this condition.,[245570],,,,,Landau-Kleffner syndrome,TRUE,FALSE,Active +GARD:6858,Active,Orphanet,ORPHA:389,Disorder,[Disease],Langerhans cell histiocytosis,"[Histiocytosis X, Langerhans cell granulomatosis]",Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.,[604856],,,,,Langerhans cell histiocytosis,TRUE,FALSE,Active +GARD:6859,Active,Orphanet,ORPHA:633,Disorder,[Disease],Laron syndrome,"[Complete growth hormone insensitivity, GH receptor deficiency, Growth hormone receptor deficiency, Laron-type dwarfism, Primary GH insensitivity, Primary GH resistance, Primary growth hormone insensitivity, Primary growth hormone resistance, Short stature due to growth hormone resistance]",Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.,[262500],,,,,Laron syndrome,TRUE,FALSE,Active +GARD:686,Legacy,GARD,,,,,,,,,,,,Aniridia ataxia renal agenesis psychomotor retardation,TRUE,FALSE,Retired +GARD:6860,Active,Orphanet,ORPHA:503,Disorder,[Malformation syndrome],Larsen syndrome,,"An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.",[150250],,,,,Larsen syndrome,TRUE,FALSE,Active +GARD:6862,Legacy,GARD,,,,,,,,,,,,Laryngeal cancer,TRUE,FALSE,Active +GARD:6864,Legacy,GARD,,,,,,,,,,,,Laryngeal papillomatosis,TRUE,FALSE,Active +GARD:6865,Active,Orphanet,ORPHA:2373,Disorder,[Malformation syndrome],Congenital laryngomalacia,,"A rare larynx anomaly characterized by an inward collapse of supraglottic airway during inspiration, which manifests with an inspiratory stridor and might be associated with feeding difficulties, swallowing dysfunction, failure to thrive, and respiratory distress.",[150280],,,,,Laryngomalacia,TRUE,FALSE,Active +GARD:6866,Active,Orphanet,ORPHA:110,Disorder,[Disease],Bardet-Biedl syndrome,[BBS],"A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.","[615985, 615992, 615986, 615993, 615994, 617119, 615995, 615987, 615981, 615988, 605231, 615989, 209900, 615996, 615990, 615982, 617406, 615983, 600151, 615984, 615991]",,,,,Bardet-Biedl syndrome,TRUE,FALSE,Active +GARD:6867,Active,Orphanet,ORPHA:5,Disorder,[Disease],Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,"[LCHAD deficiency, LCHADD, Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]","A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.",[609016],,,,,LCHAD deficiency,TRUE,FALSE,Active +GARD:6870,Active,Orphanet,ORPHA:104,Disorder,[Disease],Leber hereditary optic neuropathy,"[LHON, Leber optic atrophy]","A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy.","[535000, 308905]",,,,,Leber hereditary optic neuropathy,TRUE,FALSE,Active +GARD:6873,Active,Orphanet,ORPHA:199251,Disorder,[Disease],Ledderhose disease,[Plantar fibromatosis],"A rare, benign, superficial fibromatosis disease characterized by single or multiple, uni- or bilateral, fixed, slow-growing, round, firm nodules typically located on the medial portion of the plantar aponeurosis, with no calcification. Patients are often asymptomatic or may present with foot pain, difficulty to walk or stand and, rarely, toe contractures. Histopathology reveals dense fibrocellular tissue with parallel and nodular arrays of fibrocytes and fibrillar collagen with a distinctive cork-screw morphology and no atypia.",,,,,,Ledderhose disease,TRUE,FALSE,Active +GARD:6874,Active,Orphanet,ORPHA:2380,Disorder,[Disease],Legg-Calvé-Perthes disease,"[Aseptic necrosis of the capital femoral epiphysis, Osteochondrosis of the capital femoral epiphysis, Perthes disease]",A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.,[150600],,,,,Legg-Calve-Perthes disease,TRUE,FALSE,Active +GARD:6876,Active,Orphanet,ORPHA:549,Disorder,[Disease],Legionnaires disease,,Legionellosis or Legionnaires' disease (LD) is a bacterial lung infection characterized by a potentially fatal pneumonia.,,,,,,Legionnaires’ disease,TRUE,FALSE,Active +GARD:6877,Active,Orphanet,ORPHA:506,Group of disorders,[Clinical group],Leigh syndrome,"[Infantile subacute necrotizing encephalopathy, Leigh disease]",A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.,[256000],,,,,Leigh syndrome,TRUE,FALSE,Active +GARD:6878,Active,Orphanet,ORPHA:314,Disorder,[Disease],Erythroderma desquamativum,[Leiner disease],"A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly Staphylococcus aureus, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.",[609536],,,,,Leiner disease,TRUE,FALSE,Active +GARD:688,Legacy,GARD,,,,,,,,,,,,Aniridia mental retardation syndrome,TRUE,FALSE,Retired +GARD:6880,Active,Orphanet,ORPHA:64720,Disorder,[Disease],Leiomyosarcoma,,"A rare soft tissue sarcoma characterized by a malignant space-occupying lesion most commonly located in the retroperitoneum or the inferior vena cava, but also other soft tissues, and composed of cells showing distinct features of smooth muscle cells. The tumor presents with mass effect depending on the location. It is capable of both local recurrence and distant metastasis, while lymph node metastasis is rare. Prognosis largely depends on tumor location and size.",,,,,,Leiomyosarcoma,TRUE,FALSE,Active +GARD:6881,Active,Orphanet,ORPHA:507,Disorder,[Disease],Leishmaniasis,,"A parasitic disease caused by different species of the genus Leishmania, transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).",[608207],,,,,Leishmaniasis,TRUE,FALSE,Active +GARD:6882,Active,Orphanet,ORPHA:137839,Disorder,[Disease],Lemierre syndrome,"[Lemierre postanginal sepsis, Postanginal sepsis secondary to orophyngeal infection, Septic phlebitis of the internal jugular vein]","Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.",,,,,,Lemierre syndrome,TRUE,FALSE,Active +GARD:6885,Active,Orphanet,ORPHA:508,Disorder,[Malformation syndrome],Leprechaunism,[Donohue syndrome],"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.",[246200],,,,,Leprechaunism,TRUE,FALSE,Active +GARD:6886,Active,Orphanet,ORPHA:548,Disorder,[Disease],Leprosy,,A chronic infectious disease affecting primarily the skin and peripheral nervous system.,"[609888, 613223, 607572, 610988, 246300, 613407]",,,,,Hansen's disease,TRUE,FALSE,Active +GARD:689,Active,Orphanet,ORPHA:1067,Disorder,[Malformation syndrome],Aniridia-ptosis-intellectual disability-familial obesity syndrome,,"An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.",,,,,,Aniridia - ptosis - intellectual disability - familial obesity,TRUE,FALSE,Active +GARD:6892,Legacy,GARD,,,,,,,,,,,,Leukemia subleukemic,TRUE,FALSE,Active +GARD:6893,Active,Orphanet,ORPHA:99842,Subtype of disorder,[Clinical subtype],Leukocyte adhesion deficiency type I,[LAD-I],"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.",[116920],,,,,Leukocyte adhesion deficiency type 1,TRUE,FALSE,Active +GARD:6895,Active,Orphanet,ORPHA:68356,Group of disorders,[Category],Leukodystrophy,,,,,,,,Leukodystrophy,TRUE,FALSE,Active +GARD:6896,Legacy,GARD,,,,,,,,,,,,Leukomalacia,TRUE,FALSE,Retired +GARD:6897,Legacy,GARD,,,,,,,,,,,,Leukoplakia,TRUE,FALSE,Active +GARD:6899,Legacy,GARD,,,,,,,,,,,,Levator syndrome,TRUE,FALSE,Active +GARD:69,Active,Orphanet,ORPHA:319247,Disorder,[Disease],Hantavirus pulmonary syndrome,,"A rare viral hemorrhagic fever characterized by virus-induced microvascular leakage rapidly leading to a severe illness with diffuse pulmonary edema and respiratory failure. These symptoms set in after a short first disease stage with fever, myalgia, and headache, followed by severe gastrointestinal symptoms such as abdominal pain, vomiting, and diarrhea. The high lethality of the disease is due to the possible development of hypotension and cardiogenic shock.",,,,,,Hantavirus pulmonary syndrome,TRUE,FALSE,Active +GARD:690,Active,Orphanet,ORPHA:1064,Disorder,[Malformation syndrome],Aniridia-renal agenesis-psychomotor retardation syndrome,[Sommer-Rathbun-Battles syndrome],"An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.",[206750],,,,,Aniridia renal agenesis psychomotor retardation,TRUE,FALSE,Active +GARD:6901,Active,Orphanet,ORPHA:65285,Disorder,[Disease],Lhermitte-Duclos disease,"[Dysplastic gangliocytoma of the cerebellum, LDD]","A very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.",[158350],,,,,Lhermitte-Duclos disease,TRUE,FALSE,Active +GARD:6902,Active,Orphanet,ORPHA:524,Disorder,[Disease],Li-Fraumeni syndrome,,"A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers.","[151623, 609265]",,,,,Li-Fraumeni syndrome,TRUE,FALSE,Active +GARD:6905,Legacy,GARD,,,,,,,,,,,,Lichen sclerosus,TRUE,FALSE,Active +GARD:6906,Active,Orphanet,ORPHA:93558,Subtype of disorder,[Clinical subtype],Light chain deposition disease,[LCDD],"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by deposition of abnormal immunoglobulin light chains in the kidneys, resulting in nephrotic syndrome and renal failure. Symptomatic extrarenal deposition is uncommon, although hepatic, cardiac, and neural deposits have been reported. The condition frequently occurs in association with multiple myeloma or in patients with M protein and marrow plasma cells at monoclonal gammopathy of undetermined significance levels.",,,,,,Light chain deposition disease,TRUE,FALSE,Active +GARD:6907,Active,Orphanet,ORPHA:263,Group of disorders,[Clinical group],Limb-girdle muscular dystrophy,[LGMD],Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.,,,,,,Limb-girdle muscular dystrophy,TRUE,FALSE,Active +GARD:6909,Legacy,GARD,,,,,,,,,,,,Lipodystrophy,TRUE,FALSE,Retired +GARD:6910,Legacy,GARD,,,,,,,,,,,,Lipogranulomatosis,TRUE,FALSE,Active +GARD:6913,Active,Orphanet,ORPHA:69078,Disorder,[Disease],Liposarcoma,,"Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla.",[613488],,,,,Liposarcoma,TRUE,FALSE,Active +GARD:6914,Active,Orphanet,ORPHA:2148,Disorder,[Disease],Lissencephaly type 1 due to doublecortin gene mutation,[X-linked lissencephaly type 1],Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.,[300067],,,,,Lissencephaly X-linked,TRUE,FALSE,Active +GARD:6915,Active,Orphanet,ORPHA:533,Disorder,[Disease],Listeriosis,[Listeria infection],"A rare bacterial infectious disease caused by the foodborne pathogen Listeria monocytogenes, characterized by a febrile gastroenteritis, which is usually mild and self-limiting in otherwise healthy persons, but can progress to severe illness in at-risk groups like pregnant women, elderly people, immunocompromised people, and neonates. Complications include sepsis, meningitis, and encephalitis. Listeriosis during pregnancy usually occurs during the third trimester and may lead to preterm labor, miscarriage, stillbirth, or intrauterine infection of the unborn child.",,,,,,Listeria infection,TRUE,FALSE,Active +GARD:6919,Active,Orphanet,ORPHA:2406,Disorder,[Disease],Locked-in syndrome,[Cerebromedullospinal disconnection],"Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.",,,,,,Locked-in syndrome,TRUE,FALSE,Active +GARD:6920,Legacy,GARD,,,,,,,,,,,,Loin pain hematuria syndrome,TRUE,FALSE,Active +GARD:6922,Legacy,GARD,,,,,,,,,,,,Long QT syndrome,FALSE,FALSE,Active +GARD:693,Active,Orphanet,ORPHA:1070,Disorder,[Disease],Anisakiasis,,"A fish-borne zoonosis caused by the ingestion of third stage larvae of nematodes belonging to the genus Anisakis, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock).",,,,,,Anisakiasis,TRUE,FALSE,Active +GARD:6932,Legacy,GARD,,,,,,,,,,,,Lymph Node Neoplasm,TRUE,FALSE,Active +GARD:6933,Legacy,GARD,,,,,,,,,,,,Lymphangiectasis,TRUE,FALSE,Active +GARD:6936,Legacy,GARD,,,,,,,,,,,,Lymphatic neoplasm,TRUE,FALSE,Retired +GARD:6938,Legacy,GARD,,,,,,,,,,,,Lymphocytes absent,TRUE,FALSE,Retired +GARD:6939,Legacy,GARD,,,,,,,,,,,,Lymphocytic colitis,FALSE,FALSE,Active +GARD:694,Legacy,GARD,,,,,,,,,,,,Ankle defects short stature,TRUE,FALSE,Retired +GARD:6940,Active,Orphanet,ORPHA:33314,Disorder,[Disease],Jessner lymphocytic infiltration of the skin,[Jessner-Kanof lymphocytic infiltration of the skin],Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.,,,,,,Lymphocytic infiltrate of Jessner,TRUE,FALSE,Active +GARD:6941,Legacy,GARD,,,,,,,,,,,,Lymphocytic vasculitis,TRUE,FALSE,Active +GARD:6943,Active,Orphanet,ORPHA:86869,Disorder,[Disease],Lymphomatoid granulomatosis,[LYG],"Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.",,,,,,Lymphomatoid granulomatosis,TRUE,FALSE,Active +GARD:6944,Active,Orphanet,ORPHA:98842,Disorder,[Disease],Lymphomatoid papulosis,[LyP],"Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL; see this term) with which it shares overlapping clinical and histopathologic features.",,,,,,Lymphomatoid papulosis,TRUE,FALSE,Active +GARD:6945,Legacy,GARD,,,,,,,,,,,,Lymphomatous thyroiditis,TRUE,FALSE,Active +GARD:6946,Legacy,GARD,,,,,,,,,,,,Lymphosarcoma,TRUE,FALSE,Active +GARD:6950,Active,Orphanet,ORPHA:60040,Disorder,[Malformation syndrome],Megalencephaly-capillary malformation-polymicrogyria syndrome,"[MCAP, MCM, MCMTC, Macrocephaly-capillary malformation syndrome, Macrocephaly-cutis marmorata telangiectatica congenita syndrome, Megalencephaly-capillary malformation syndrome, Megalencephaly-cutis marmorata telangiectatica congenita syndrome]","A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies.",[602501],,,,,Megalencephaly-capillary malformation syndrome,TRUE,FALSE,Active +GARD:6951,Active,Orphanet,ORPHA:295047,Disorder,[Morphological anomaly],Macrodactyly of toes,[Macrodactyly of foot],"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of a foot. Enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. It typically occurs within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter.",,,,,,Macrodactyly of toes,TRUE,FALSE,Active +GARD:6953,Active,Orphanet,ORPHA:98969,Disorder,[Disease],Macular corneal dystrophy,"[Corneal dystrophy Groenouw type II, Fehr corneal dystrophy, MCD]","Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.",[217800],,,,,"Macular dystrophy, corneal type 1",TRUE,FALSE,Active +GARD:6956,Active,Orphanet,ORPHA:204,Disorder,[Disease],Sporadic Creutzfeldt-Jakob disease,[Sporadic CJD],"A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis.",[123400],,,,,Creutzfeldt-Jakob disease,TRUE,FALSE,Active +GARD:6957,Active,Orphanet,ORPHA:2398,Disorder,[Disease],Multiple symmetric lipomatosis,"[Cephalothoracic lipodystrophy, Familial benign cervical lipomatosis, Launois-Bensaude lipomatosis, Madelung disease]","A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).",[151800],,,,,Multiple symmetric lipomatosis,TRUE,FALSE,Active +GARD:6958,Active,Orphanet,ORPHA:163634,Disorder,[Disease],Maffucci syndrome,,A rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas.,[614569],,,,,Maffucci syndrome,TRUE,FALSE,Active +GARD:6959,Active,Orphanet,ORPHA:210272,Disorder,[Clinical syndrome],Mal de débarquement,"[Disembarkment syndrome, MdD, MdDS, Sickness of disembarkment]","Mal de débarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.",,,,,,Mal de debarquement syndrome,TRUE,FALSE,Active +GARD:696,Active,Orphanet,ORPHA:1072,Subtype of disorder,[Clinical subtype],Ankyloblepharon filiforme adnatum-cleft palate syndrome,,"A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.",[106250],,,,,Ankyloblepharon filiforme adnatum cleft palate,TRUE,FALSE,Active +GARD:6960,Active,Orphanet,ORPHA:556,Disorder,[Disease],Malakoplakia,,Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.,,,,,,Malakoplakia,TRUE,FALSE,Active +GARD:6961,Active,Orphanet,ORPHA:673,Disorder,[Disease],Malaria,,"A life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.",[611162],,,,,Malaria,TRUE,FALSE,Active +GARD:6963,Active,Orphanet,ORPHA:2023,Disorder,[Disease],Undifferentiated pleomorphic sarcoma,[UPS],"An aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis.",,,,,,Undifferentiated pleomorphic sarcoma,TRUE,FALSE,Active +GARD:6964,Active,Orphanet,ORPHA:423,Disorder,[Disease],Malignant hyperthermia of anesthesia,[Hyperthermia of anesthesia],"Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.","[601888, 154275, 154276, 600467, 145600, 601887]",,,,,Malignant hyperthermia,TRUE,FALSE,Active +GARD:6966,Legacy,GARD,,,,,,,,,,,,Malignant mixed Mullerian tumor,TRUE,FALSE,Active +GARD:6967,Legacy,GARD,,,,,,,,,,,,Mallory-Weiss syndrome,TRUE,FALSE,Active +GARD:6968,Active,Orphanet,ORPHA:61,Disorder,[Disease],Alpha-mannosidosis,[Lysosomal alpha-D-mannosidase deficiency],"An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.",[248500],,,,,Alpha-mannosidosis,TRUE,FALSE,Active +GARD:6969,Active,Orphanet,ORPHA:52416,Disorder,[Disease],Mantle cell lymphoma,"[LCM, MCL, Mantle zone lymphoma]",Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.,,,,,,Mantle cell lymphoma,TRUE,FALSE,Active +GARD:697,Active,Orphanet,ORPHA:1074,Subtype of disorder,[Clinical subtype],Ankyloblepharon filiforme adnatum-imperforate anus syndrome,[Aughton-Hufnagle syndrome],"An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.",,,,,,Ankyloblepharon filiforme imperforate anus,TRUE,FALSE,Active +GARD:6971,Active,Orphanet,ORPHA:221074,Disorder,[Disease],Marchiafava-Bignami disease,[MBD],"A rare neurologic disease most prominently characterized by progressive demyelination and necrosis of the corpus callosum. It is in most cases associated with chronic alcoholism and malnutrition. Speed of onset and clinical presentation are very variable with a range of possible symptoms, including dementia, seizures, gait abnormalities, dysarthria, aphasia, athetosis, as well as stupor and coma.",,,,,,Marchiafava Bignami disease,TRUE,FALSE,Active +GARD:6972,Active,Orphanet,ORPHA:91412,Disorder,[Disease],Marcus-Gunn syndrome,"[Jaw-winking syndrome, Mandibulo-palpebral synkinesis-ptosis syndrome, Marcus-Gunn phenomenon]",Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis.,[154600],,,,,Marcus Gunn phenomenon,TRUE,FALSE,Active +GARD:6973,Active,Orphanet,ORPHA:2461,Disorder,[Malformation syndrome],Marden-Walker syndrome,,"A rare developmental defect during embryogenesis characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.",[248700],,,,,Marden-Walker syndrome,TRUE,FALSE,Active +GARD:6974,Legacy,GARD,,,,,,,,,,,,Marek disease,TRUE,FALSE,Active +GARD:6975,Active,Orphanet,ORPHA:284963,Subtype of disorder,[Clinical subtype],Marfan syndrome type 1,[MFS1],,[154700],,,,,Marfan syndrome,TRUE,FALSE,Active +GARD:6981,Legacy,GARD,,,,,,,,,,,,Marie type ataxia,TRUE,FALSE,Retired +GARD:6984,Active,Orphanet,ORPHA:560,Disorder,[Malformation syndrome],Marshall syndrome,,"A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.",[154780],,,,,Marshall syndrome,TRUE,FALSE,Active +GARD:6985,Active,Orphanet,ORPHA:561,Disorder,[Malformation syndrome],Marshall-Smith syndrome,[Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome],"A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies, airway obstructions, failure to thrive, developmental delay, moderate to severe intellectual disability and characteristic facial features with macrocephaly, prominent forehead, shallow orbits, proptosis and blue sclerae.",[602535],,,,,Marshall-Smith syndrome,TRUE,FALSE,Active +GARD:6986,Active,Orphanet,ORPHA:2466,Subtype of disorder,[Clinical subtype],MASA syndrome,[Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome],"A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.",[303350],,,,,Spastic paraplegia 1,TRUE,FALSE,Active +GARD:6987,Active,Orphanet,ORPHA:98292,Group of disorders,[Category],Mastocytosis,,,[154800],,,,,Mastocytosis,TRUE,FALSE,Active +GARD:6991,Legacy,GARD,,,,,,,,,,,,Maxillofacial dysostosis,TRUE,FALSE,Active +GARD:6992,Active,Orphanet,ORPHA:1248,Disorder,[Malformation syndrome],Maxillonasal dysplasia,"[Binder syndrome, Maxillonasal dysostosis]","Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.",[155050],,,,,"Maxillonasal dysplasia, Binder type",TRUE,FALSE,Active +GARD:6995,Active,Orphanet,ORPHA:562,Disorder,[Disease],McCune-Albright syndrome,[Gonadotropin-independent female-limited sexual precocity],"McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).",[174800],,,,,McCune-Albright syndrome,TRUE,FALSE,Active +GARD:6996,Active,Orphanet,ORPHA:175,Disorder,[Disease],Cartilage-hair hypoplasia,"[Autosomal recessive metaphyseal chondrodysplasia, Metaphyseal chondrodysplasia, McKusick type]",Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.,"[250250, 250460]",,,,,Cartilage-hair hypoplasia,TRUE,FALSE,Active +GARD:7,Active,Orphanet,ORPHA:969,Disorder,[Malformation syndrome],Acromicric dysplasia,,"A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.",[102370],,,,,Acromicric dysplasia,TRUE,FALSE,Active +GARD:70,Active,Orphanet,ORPHA:2330,Disorder,[Disease],Kasabach-Merritt syndrome,[Hemangioma-thrombocytopenia syndrome],"Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.",[141000],,,,,Hemangioma thrombocytopenia syndrome,TRUE,FALSE,Active +GARD:7002,Active,Orphanet,ORPHA:88949,Subtype of disorder,[Clinical subtype],MUC1-related autosomal dominant tubulointerstitial kidney disease,"[ADTKD-MUC1, MCKD1, MUC1-related medullary cystic kidney disease, MUCI-related ADTKD, Medullary cystic kidney disease type 1]",,[174000],,,,,Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations,TRUE,FALSE,Active +GARD:7004,Active,Orphanet,ORPHA:1332,Disorder,[Disease],Medullary thyroid carcinoma,[MTC],Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT).,,,,,,"Thyroid cancer, medullary",TRUE,FALSE,Active +GARD:7005,Active,Orphanet,ORPHA:616,Disorder,[Disease],Medulloblastoma,,"A rare embryonic tumor of the neuroepithelial tissue characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia. The disease can be classified according to histological (classic, anaplastic, large-cell, or desmoplatic medulloblastoma, or medulloblastoma with extensive nodularity) and molecular criteria (WNT-activated, sonic-hedgehog-activated, group 3, group 4).",[155255],,,,,Medulloblastoma,TRUE,FALSE,Active +GARD:7006,Active,Orphanet,ORPHA:35858,Disorder,[Disease],Imerslund-Gräsbeck syndrome,"[Familial megaloblastic anemia, Selective cobalamin malabsorption with proteinuria]","Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.","[618882, 261100]",,,,,Imerslund-Grasbeck syndrome,TRUE,FALSE,Active +GARD:7008,Active,Orphanet,ORPHA:93964,Disorder,[Disease],Blepharospasm-oromandibular dystonia syndrome,"[Meige dystonia, Meige syndrome]",A focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.,,,,,,Meige syndrome,TRUE,FALSE,Active +GARD:7009,Active,Orphanet,ORPHA:550,Disorder,[Disease],MELAS,"[Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes, Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes]","A rare neurometabolic genetic disorder which is progressive and multisystemic due to mitochondrial dysfunction and that is characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes.",[540000],,,,,Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes,TRUE,FALSE,Active +GARD:701,Active,Orphanet,ORPHA:1077,Disorder,[Malformation syndrome],Dental ankylosis,[Ankylosis of teeth],A rare odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility.,,,,,,Ankylosis of teeth,TRUE,FALSE,Active +GARD:7010,Active,Orphanet,ORPHA:2483,Disorder,[Malformation syndrome],Melkersson-Rosenthal syndrome,,"A rare orofacial granulomatosis characterized by the triad of recurrent or persistent orofacial edema (facial and lip edemas), fissured tongue, and relapsing, unilateral or bilateral peripheral facial nerve paralysis. Most cases present with partial symptoms. Typical age of onset is in childhood or adolescence. Histological examination shows non-caseating epithelioid cell granulomas and lymphedema.",[155900],,,,,Melkersson-Rosenthal syndrome,TRUE,FALSE,Active +GARD:7011,Active,Orphanet,ORPHA:2484,Disorder,[Malformation syndrome],Melnick-Needles syndrome,[Melnick-Needles osteodysplasty],"Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.",[309350],,,,,Melnick-Needles syndrome,TRUE,FALSE,Active +GARD:7015,Active,Orphanet,ORPHA:2495,Disorder,[Disease],Meningioma,,"A rare, mostly benign, neoplastic disease characterized by a primary tumor of the meninges, usually located intracranially (~90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumor and may include seizures, focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control.",[606190],,,,,Meningioma,TRUE,FALSE,Active +GARD:7021,Active,Orphanet,ORPHA:330021,Disorder,[Disease],Mercury poisoning,"[Hydrargyria, Mercurialism, Mercury intoxication]","Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.",,,,,,Mercury poisoning,TRUE,FALSE,Active +GARD:7026,Active,Orphanet,ORPHA:50251,Disorder,[Disease],Pleural mesothelioma,,"Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.",[156240],,,,,Malignant mesothelioma,TRUE,FALSE,Active +GARD:7029,Active,Orphanet,ORPHA:174,Disorder,[Disease],"Metaphyseal chondrodysplasia, Schmid type",,"Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.",[156500],,,,,Metaphyseal chondrodysplasia Schmid type,TRUE,FALSE,Active +GARD:7030,Legacy,GARD,,,,,,,,,,,,Metastatic insulinoma,TRUE,FALSE,Active +GARD:7033,Legacy,GARD,,,,,,,,,,,,Methylmalonic acidemia,TRUE,FALSE,Active +GARD:7034,Legacy,GARD,,,,,,,,,,,,Monoclonal gammopathy of undetermined significance,TRUE,FALSE,Active +GARD:7035,Active,Orphanet,ORPHA:321,Disorder,[Disease],Multiple osteochondromas,"[Bessel-Hagen disease, Multiple cartilaginous exostoses]",A primary bone disorder characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) at the surface of the bones.,"[133700, 600209, 133701]",,,,,Hereditary multiple osteochondromas,TRUE,FALSE,Active +GARD:7036,Legacy,GARD,,,,,,,,,,,,"Microcephaly with chorioretinopathy, autosomal dominant form",TRUE,FALSE,Active +GARD:7038,Legacy,GARD,,,,,,,,,,,,Microencephaly,TRUE,FALSE,Active +GARD:7039,Active,Orphanet,ORPHA:2290,Disorder,[Disease],Microvillus inclusion disease,"[Congenital microvillous atrophy, Congenital microvillus atrophy, MVID, Microvillous inclusion disease]",Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.,[251850],,,,,Microvillus inclusion disease,TRUE,FALSE,Active +GARD:704,Legacy,GARD,,,,,,,,,,,,Annular constricting bands,TRUE,FALSE,Active +GARD:7041,Active,Orphanet,ORPHA:86879,Disorder,[Disease],Extranodal nasal NK/T cell lymphoma,"[Angiocentric T-cell lymphoma, Lethal midline granuloma, NK/T-cell lymphoma, NKTCL, Nasal T/natural killer-cell lymphoma]","Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.",,,,,,Midline lethal granuloma,TRUE,FALSE,Active +GARD:7043,Active,Orphanet,ORPHA:79078,Subtype of disorder,[Clinical subtype],IgG4-related dacryoadenitis and sialadenitis,"[Chronic dacryoadenitis and sialadenitis, Mikulicz disease]","IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms).",,,,,,IgG4-related dacryoadenitis and sialadenitis,TRUE,FALSE,Active +GARD:7048,Legacy,GARD,,,,,,,,,,,,Mitochondrial genetic disorders,TRUE,FALSE,Active +GARD:705,Active,Orphanet,ORPHA:675,Disorder,[Morphological anomaly],Annular pancreas,,A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.,[167750],,,,,Annular pancreas,TRUE,FALSE,Active +GARD:7051,Active,Orphanet,ORPHA:809,Disorder,[Disease],Mixed connective tissue disease,"[MCTD, Sharp syndrome]","Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).",,,,,,Mixed connective tissue disease,TRUE,FALSE,Active +GARD:7054,Legacy,GARD,,,,,,,,,,,,Mondor disease,TRUE,FALSE,Active +GARD:7056,Legacy,GARD,,,,,,,,,,,,Mononeuritis multiplex,TRUE,FALSE,Active +GARD:7058,Active,Orphanet,ORPHA:90289,Disorder,[Disease],Localized scleroderma,[Localized fibrosing scleroderma],Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips.,,,,,,Localized scleroderma,TRUE,FALSE,Active +GARD:7059,Legacy,GARD,,,,,,,,,,,,Morquio syndrome C,TRUE,FALSE,Retired +GARD:7060,Legacy,GARD,,,,,,,,,,,,Chromosome 16 trisomy,TRUE,FALSE,Active +GARD:7061,Legacy,GARD,,,,,,,,,,,,Motor neuro-ophthalmic disorders,TRUE,FALSE,Retired +GARD:7064,Active,Orphanet,ORPHA:2573,Disorder,[Disease],Moyamoya disease,[Idiopathic Moyamoya disease],Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.,"[607151, 608796, 614042, 252350]",,,,,Moyamoya disease,TRUE,FALSE,Active +GARD:7065,Active,Orphanet,ORPHA:79213,Group of disorders,[Category],Mucopolysaccharidosis,,,,,,,,Mucopolysaccharidosis,TRUE,FALSE,Active +GARD:707,Legacy,GARD,,,,,,,,,,,,Anorectal atresia,TRUE,FALSE,Retired +GARD:7071,Active,Orphanet,ORPHA:79269,Subtype of disorder,[Etiological subtype],Sanfilippo syndrome type A,"[Heparan sulfamidase deficiency, MPS3A, MPSIIIA, Mucopolysaccharidosis type 3A, Mucopolysaccharidosis type IIIA]",,[252900],,,,,Mucopolysaccharidosis type IIIA,TRUE,FALSE,Active +GARD:7072,Active,Orphanet,ORPHA:79270,Subtype of disorder,[Etiological subtype],Sanfilippo syndrome type B,"[MPS3B, MPSIIIB, Mucopolysaccharidosis type 3B, Mucopolysaccharidosis type IIIB, N-acetyl-alpha-glucosaminidase deficiency]",,[252920],,,,,Mucopolysaccharidosis type IIIB,TRUE,FALSE,Active +GARD:7073,Active,Orphanet,ORPHA:79271,Subtype of disorder,[Etiological subtype],Sanfilippo syndrome type C,"[HGSNAT deficiency, Heparan-alpha-glucosaminide N-acetyltransferase deficiency, MPS3C, MPSIIIC, Mucopolysaccharidosis type 3C, Mucopolysaccharidosis type IIIC]",,[252930],,,,,Mucopolysaccharidosis type IIIC,TRUE,FALSE,Active +GARD:7074,Active,Orphanet,ORPHA:79272,Subtype of disorder,[Etiological subtype],Sanfilippo syndrome type D,"[GNS deficiency, Glucosamine N-acetyl-6-sulfatase deficiency, MPS3D, MPSIIID, Mucopolysaccharidosis type 3D, Mucopolysaccharidosis type IIID]",,[252940],,,,,Mucopolysaccharidosis type IIID,TRUE,FALSE,Active +GARD:7079,Active,Orphanet,ORPHA:102,Disorder,[Disease],Multiple system atrophy,"[MSA, Multisystem atrophy]","Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.",[146500],,,,,Multiple system atrophy,TRUE,FALSE,Active +GARD:708,Legacy,GARD,,,,,,,,,,,,Anonychia ectrodactyly,TRUE,FALSE,Active +GARD:709,Legacy,GARD,,,,,,,,,,,,Anonychia total with microcephaly,TRUE,FALSE,Retired +GARD:7095,Active,Orphanet,ORPHA:583,Disorder,[Disease],Mucopolysaccharidosis type 6,"[ARSB deficiency, ASB deficiency, Arylsulfatase B deficiency, MPS6, MPSVI, Maroteaux-Lamy disease, Mucopolysaccharidosis type VI, N-acetylgalactosamine 4-sulfatase deficiency]","Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.",[253200],,,,,Mucopolysaccharidosis type VI,TRUE,FALSE,Active +GARD:7096,Active,Orphanet,ORPHA:584,Disorder,[Disease],Mucopolysaccharidosis type 7,"[Beta-glucuronidase deficiency, MPS7, MPSVII, Mucopolysaccharidosis type VII, Sly disease]","A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease.",[253220],,,,,Mucopolysaccharidosis type VII,TRUE,FALSE,Active +GARD:7097,Active,Orphanet,ORPHA:53271,Disorder,[Malformation syndrome],Muenke syndrome,,"Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.",[602849],,,,,Muenke Syndrome,TRUE,FALSE,Active +GARD:7099,Legacy,GARD,,,,,,,,,,,,Mullerian agenesis,TRUE,FALSE,Retired +GARD:71,Legacy,GARD,,,,,,,,,,,,Human granulocytic ehrlichiosis,TRUE,FALSE,Active +GARD:710,Active,Orphanet,ORPHA:90390,Subtype of disorder,[Clinical subtype],Anonychia-onychodystrophy syndrome,,,"[107000, 614149]",,,,,Onychodystrophy-anonychia,TRUE,FALSE,Active +GARD:7100,Active,Orphanet,ORPHA:73217,Group of disorders,[Clinical group],Müllerian aplasia,"[Aplasia of the Müllerian ducts, Müllerian duct failure]",,,,,,,Mullerian aplasia,TRUE,FALSE,Active +GARD:7103,Active,Orphanet,ORPHA:139436,Disorder,[Disease],Multicentric reticulohistiocytosis,"[Giant cell histiocytomatosis, Lipoid dermatoarthritis]",A rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.,,,,,,Multicentric reticulohistiocytosis,TRUE,FALSE,Active +GARD:7104,Legacy,GARD,,,,,,,,,,,,"Multiple carboxylase deficiency, propionic acidemia",TRUE,FALSE,Retired +GARD:7108,Active,Orphanet,ORPHA:29073,Disorder,[Disease],Multiple myeloma,"[Kahler disease, Medullary plasmacytoma, Myelomatosis, Plasma cell myeloma]","Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).",[254500],,,,,Multiple myeloma,TRUE,FALSE,Active +GARD:711,Legacy,GARD,,,,,,,,,,,,Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly,TRUE,FALSE,Active +GARD:7111,Active,Orphanet,ORPHA:2990,Disorder,[Malformation syndrome],Autosomal recessive multiple pterygium syndrome,"[Autosomal recessive non-lethal multiple pterygium syndrome, EVMPS, Escobar syndrome, Escobar variant multiple pterygium syndrome]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital pterygia (webbing) mainly affecting the neck and large joints, arthrogryposis multiplex, short stature, and craniofacial dysmorphism (including ptosis, downslanting palpebral fissures, high-arched palate, and retrognathia). Additional manifestations are decreased movements, facial weakness, respiratory distress, vertebral anomalies, scoliosis, anomalies of the fingers, and cryptorchidism, among others. The disease is a non-lethal variant of multiple pterygium syndrome.","[618469, 265000]",,,,,Multiple pterygium syndrome Escobar type,TRUE,FALSE,Active +GARD:7116,Legacy,GARD,,,,,,,,,,,,Mumps,TRUE,FALSE,Active +GARD:7117,Legacy,GARD,,,,,,,,,,,,Munchausen by proxy syndrome,TRUE,FALSE,Active +GARD:7121,Legacy,GARD,,,,,,,,,,,,Myalgic encephalomyelitis/chronic fatigue syndrome,FALSE,FALSE,Active +GARD:7122,Active,Orphanet,ORPHA:589,Disorder,[Disease],Myasthenia gravis,"[Acquired myasthenia, Autoimmune myasthenia gravis]","Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.","[607085, 159400, 254200]",,,,,Myasthenia gravis,TRUE,FALSE,Active +GARD:7123,Legacy,GARD,,,,,,,,,,,,Mycobacterium Avium Complex infections,TRUE,FALSE,Active +GARD:7125,Legacy,GARD,,,,,,,,,,,,Mycoplasmal pneumonia,TRUE,FALSE,Active +GARD:713,Active,Orphanet,ORPHA:2470,Disorder,[Malformation syndrome],Matthew-Wood syndrome,"[Anophthalmia-pulmonary hypoplasia syndrome, PDAC syndrome, Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome, Spear syndrome]","Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.","[601186, 615524]",,,,,Microphthalmia syndromic 9,TRUE,FALSE,Active +GARD:7130,Legacy,GARD,,,,,,,,,,,,Myelitis,TRUE,FALSE,Active +GARD:7132,Active,Orphanet,ORPHA:52688,Group of disorders,[Clinical group],Myelodysplastic syndrome,,,[614286],,,,,Myelodysplastic syndromes,TRUE,FALSE,Active +GARD:7137,Legacy,GARD,,,,,,,,,,,,Myocarditis,TRUE,FALSE,Active +GARD:7139,Active,Orphanet,ORPHA:36899,Disorder,[Disease],Myoclonus-dystonia syndrome,"[Alcohol-responsive dystonia, Hereditary essential myoclonus, Myoclonic dystonia]",Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.,"[616398, 159900]",,,,,Myoclonus-dystonia,TRUE,FALSE,Active +GARD:714,Legacy,GARD,,,,,,,,,,,,Anophthalmia cleft lip palate hypothalamic disorder,TRUE,FALSE,Retired +GARD:7140,Active,Orphanet,ORPHA:98261,Group of disorders,[Clinical group],Progressive myoclonic epilepsy,"[PME, Progressive myoclonus epilepsy]",,,,,,,Progressive myoclonic epilepsy,TRUE,FALSE,Active +GARD:7142,Legacy,GARD,,,,,,,,,,,,Myoclonus epilepsy,TRUE,FALSE,Active +GARD:7143,Legacy,GARD,,,,,,,,,,,,Myoclonus epilepsy partial seizure,TRUE,FALSE,Active +GARD:7144,Active,Orphanet,ORPHA:551,Disorder,[Disease],MERRF,"[Fukuhara syndrome, Myoclonus epilepsy associated with ragged-red fibres]",MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.,[545000],,,,,Myoclonic epilepsy with ragged red fibers,TRUE,FALSE,Active +GARD:7145,Legacy,GARD,,,,,,,,,,,,Myofibrillar lysis,TRUE,FALSE,Retired +GARD:7146,Active,Orphanet,ORPHA:178342,Disorder,[Disease],Inflammatory myofibroblastic tumor,,"Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.",,,,,,Inflammatory myofibroblastic tumor,TRUE,FALSE,Active +GARD:7148,Active,Orphanet,ORPHA:53698,Disorder,[Disease],Hyaline body myopathy,,,"[255160, 608358]",,,,,Myosin storage myopathy,TRUE,FALSE,Active +GARD:715,Legacy,GARD,,,,,,,,,,,,Anophthalmia cleft palate micrognathia,TRUE,FALSE,Active +GARD:7153,Legacy,GARD,,,,,,,,,,,,Myotonia atrophica,TRUE,FALSE,Retired +GARD:7157,Active,Orphanet,ORPHA:99967,Subtype of disorder,[Histopathological subtype],Myxoid/round cell liposarcoma,[MRCLS],"Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS; see this term) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.",[613488],,,,,Myxoid liposarcoma,TRUE,FALSE,Active +GARD:7158,Active,Orphanet,ORPHA:927,Disorder,[Disease],Hyperammonemia due to N-acetylglutamate synthase deficiency,[NAGS deficiency],"A rare disorder of urea cycle metabolism causing a deficit of ammonia detoxification and arginine synthesis, and characterized by hyperammonemia of variable severity. Manifestations range from neonatal presentation of poor feeding, vomiting, lethargy, tachypnea, convulsions and coma to adult-onset headaches, hazy gastrointestinal symptoms, seizures, behavioral/psychiatric problems, confusion and lethargy.",[237310],,,,,N-acetylglutamate synthase deficiency,TRUE,FALSE,Active +GARD:716,Legacy,GARD,,,,,,,,,,,,Anophthalmia esophageal atresia cryptorchidism,TRUE,FALSE,Active +GARD:7160,Active,Orphanet,ORPHA:2614,Disorder,[Malformation syndrome],Nail-patella syndrome,"[Onychoosteodysplasia, Turner-Kieser syndrome]","A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.",[161200],,,,,Nail-patella syndrome,TRUE,FALSE,Active +GARD:7161,Active,Orphanet,ORPHA:627,Disorder,[Malformation syndrome],Nance-Horan syndrome,,"Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.",[302350],,,,,Nance-Horan syndrome,TRUE,FALSE,Active +GARD:7162,Active,Orphanet,ORPHA:2073,Disorder,[Disease],Narcolepsy type 1,"[Gélineau disease, Narcolepsy-cataplexy]","A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions).","[612417, 161400, 609039, 605841, 612851, 614223, 614250]",,,,,Narcolepsy,TRUE,FALSE,Active +GARD:7163,Active,Orphanet,ORPHA:150,Disorder,[Disease],Nasopharyngeal carcinoma,[Squamous cell carcinoma of the nasopharynx],Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx.,"[607107, 617075, 161550]",,,,,Nasopharyngeal carcinoma,TRUE,FALSE,Active +GARD:7166,Active,Orphanet,ORPHA:377,Disorder,[Malformation syndrome],Gorlin syndrome,"[Basal cell nevus syndrome, Gorlin-Goltz syndrome, NBCCS, Nevoid basal cell carcinoma syndrome]","A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.",[109400],,,,,Nevoid basal cell carcinoma syndrome,TRUE,FALSE,Active +GARD:7169,Legacy,GARD,,,,,,,,,,,,Neisseria meningitidis infection,TRUE,FALSE,Active +GARD:717,Active,Orphanet,ORPHA:1101,Disorder,[Malformation syndrome],Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome,[Cassia Stocco dos Santos syndrome],"A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.",,,,,,Anophthalmia megalocornea cardiopathy skeletal anomalies,TRUE,FALSE,Active +GARD:7170,Active,Orphanet,ORPHA:199244,Disorder,[Clinical syndrome],Nelson syndrome,,"A rare, acquired, endocrine disease characterized by the triad of diffuse skin and mucosa hyperpigmentation, markedly elevated serum adrenocorticotropin (ACTH) levels and an enlarging corticotroph adenoma, which manifest following total bilateral adrenalectomy performed for the treatment of Cushing's disease. Additionally, patients may present with headaches, visual field defects, cranial nerve palsy, pituitary apoplexy, diabetes insipidus, panhypopituitarism, and, occasionally, paraovarian or paratesticular tumors.",,,,,,Nelson syndrome,TRUE,FALSE,Active +GARD:7171,Active,Orphanet,ORPHA:171439,Disorder,[Disease],Childhood-onset nemaline myopathy,[Mild nemaline myopathy],"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.","[615731, 609284, 609285, 161800, 617336, 256030, 609273]",,,,,Childhood-onset nemaline myopathy,TRUE,FALSE,Active +GARD:7172,Active,Orphanet,ORPHA:446,Disorder,[Disease],Neonatal hemochromatosis,,Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin.,[231100],,,,,Neonatal hemochromatosis,TRUE,FALSE,Active +GARD:7173,Legacy,GARD,,,,,,,,,,,,Neonatal herpes,TRUE,FALSE,Active +GARD:7177,Legacy,GARD,,,,,,,,,,,,Nephrocalcinosis,TRUE,FALSE,Active +GARD:7178,Active,Orphanet,ORPHA:223,Disorder,[Disease],Nephrogenic diabetes insipidus,,"A rare, genetic renal tubular disease that is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae.","[125800, 304800]",,,,,Nephrogenic diabetes insipidus,TRUE,FALSE,Active +GARD:7179,Legacy,GARD,,,,,,,,,,,,Nephrosclerosis,TRUE,FALSE,Active +GARD:718,Legacy,GARD,,,,,,,,,,,,Anophthalmia microcephaly hypogonadism,TRUE,FALSE,Retired +GARD:7180,Active,Orphanet,ORPHA:252131,Group of disorders,[Category],Benign peripheral nerve sheath tumor,[BPNST],,,,,,,Benign peripheral nerve sheath tumor,FALSE,FALSE,Draft +GARD:7182,Active,Orphanet,ORPHA:634,Disorder,[Disease],Netherton syndrome,"[Bamboo hair syndrome, Comèl-Netherton syndrome, NS]","Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.",[256500],,,,,Netherton syndrome,TRUE,FALSE,Active +GARD:7183,Active,Orphanet,ORPHA:87876,Disorder,[Disease],Sialidosis type 2,[Infantile dysmorphic sialidosis],"Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.","[256550, 256150]",,,,,"Sialidosis, type II",TRUE,FALSE,Active +GARD:7185,Active,Orphanet,ORPHA:635,Disorder,[Disease],Neuroblastoma,,"Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.","[613016, 613013, 256700, 613017, 616792, 613014, 613015]",,,,,Neuroblastoma,TRUE,FALSE,Active +GARD:7186,Active,Orphanet,ORPHA:2481,Disorder,[Disease],Neurocutaneous melanocytosis,"[NCM, Neurocutaneous melanosis]","Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.",[249400],,,,,Neurocutaneous melanosis,TRUE,FALSE,Active +GARD:7189,Legacy,GARD,,,,,,,,,,,,Neuroendocrine carcinoma of the cervix,TRUE,FALSE,Active +GARD:719,Active,Orphanet,ORPHA:1104,Disorder,[Malformation syndrome],Anophthalmia plus syndrome,"[Fryns microphthalmia syndrome, Microphthalmia with facial clefting]","A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.",[600776],,,,,Anophthalmia plus syndrome,TRUE,FALSE,Active +GARD:7190,Active,Orphanet+OMIM,OMIM:604154,Subtype of disorder,[Disease subtype],Alzheimer disease 15,[Alzheimer disease without neurofibrillary tangles],"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}.",[604154],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,Alzheimer's disease without neurofibrillary tangles,TRUE,FALSE,Active +GARD:7191,Active,Orphanet,ORPHA:252183,Disorder,[Disease],Neurofibroma,,"A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves.",,,,,,Neurofibroma,TRUE,FALSE,Active +GARD:7193,Active,Orphanet,ORPHA:637,Disorder,[Disease],Neurofibromatosis type 2,[NF2],Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.,[101000],,,,,Neurofibromatosis type 2,TRUE,FALSE,Active +GARD:7194,Legacy,GARD,,,,,,,,,,,,Neurogenic hypertension,TRUE,FALSE,Retired +GARD:7195,Active,Orphanet,ORPHA:94093,Disorder,[Disease],Neuroleptic malignant syndrome,,"A rare neuropsychiatric syndrome associated with administration of antipsychotic or other central dopamine (D2) receptor antagonists, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.",,,,,,Neuroleptic malignant syndrome,TRUE,FALSE,Active +GARD:7196,Legacy,GARD,,,,,,,,,,,,Neuroma biliary tract,TRUE,FALSE,Active +GARD:7198,Legacy,GARD,,,,,,,,,,,,Neuronal interstitial dysplasia,TRUE,FALSE,Active +GARD:7199,Legacy,GARD,,,,,,,,,,,,Neurotoxicity syndromes,TRUE,FALSE,Active +GARD:72,Legacy,GARD,,,,,,,,,,,,Human monocytic ehrlichiosis,TRUE,FALSE,Active +GARD:7201,Active,Orphanet,ORPHA:83471,Disorder,[Disease],Thymic aplasia,[Nezelof syndrome],"A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.",[242700],,,,,Immune defect due to absence of thymus,TRUE,FALSE,Active +GARD:7206,Active,Orphanet,ORPHA:77292,Disorder,[Disease],Infantile neurovisceral acid sphingomyelinase deficiency,"[Infantile neurovisceral ASMD, NPD-A, Niemann-Pick disease type A]","A rare, autosomal recessive, acid sphingomyelinase deficiency characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, interstitial lung disease and rapidly progressive neurodegenerative disorders.",[257200],,,,,Niemann-Pick disease type A,TRUE,FALSE,Active +GARD:7207,Active,Orphanet,ORPHA:646,Disorder,[Disease],Niemann-Pick disease type C,,"A rare lysosomal lipid storage disease characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.","[257220, 607625]",,,,,Niemann-Pick disease type C1,TRUE,FALSE,Active +GARD:7208,Legacy,GARD,,,,,,,,,,,,Niemann-Pick disease type D,TRUE,FALSE,Retired +GARD:7210,Active,Orphanet,ORPHA:31204,Disorder,[Disease],Nocardiosis,,"Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.",,,,,,Nocardiosis,TRUE,FALSE,Active +GARD:7216,Legacy,GARD,,,,,,,,,,,,Non-lissencephalic cortical dysplasia,TRUE,FALSE,Active +GARD:7219,Active,Orphanet,ORPHA:407,Disorder,[Disease],Glycine encephalopathy,"[NKA, Non-ketotic hyperglycinemia]","Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.",[605899],,,,,Glycine encephalopathy,TRUE,FALSE,Active +GARD:722,Active,Orphanet,ORPHA:1106,Disorder,[Malformation syndrome],Microphthalmia with limb anomalies,"[Anophthalmia-syndactyly syndrome, OAS, Ophthalmoacromelic syndrome, Waardenburg anophthalmia syndrome]","A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.",[206920],,,,,Anophthalmos with limb anomalies,TRUE,FALSE,Active +GARD:7220,Active,Orphanet,ORPHA:79452,Disorder,[Disease],Milroy disease,"[Hereditary lymphedema type I, Nonne-Milroy lymphedema]","Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.","[613480, 153100, 615907, 611944]",,,,,Milroy disease,TRUE,FALSE,Active +GARD:7222,Legacy,GARD,,,,,,,,,,,,Nonsyndromic hereditary sensorineural hearing loss,TRUE,FALSE,Active +GARD:7223,Active,Orphanet+OMIM,OMIM:163950,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 1,"[female pseudo-turner syndrome, Noonan syndrome, turner phenotype with normal karyotype, male turner syndrome]","Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by {102:Tartaglia et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Noonan Syndrome\n\nSee also NS3 ({609942}), caused by mutation in the KRAS gene ({190070}); NS4 ({610733}), caused by mutation in the SOS1 gene ({182530}); NS5 ({611553}), caused by mutation in the RAF1 gene ({164760}); NS6 ({613224}), caused by mutation in the NRAS gene ({164790}); NS7 ({613706}), caused by mutation in the BRAF gene ({164757}); NS8 ({615355}), caused by mutation in the RIT1 gene ({609591}); NS9 ({616559}), caused by mutation in the SOS2 gene ({601247}); NS10 ({616564}), caused by mutation in the LZTR1 gene ({600574}); NS11 ({618499}), caused by mutation in the MRAS gene ({608435}); NS12 ({618624}), caused by mutation in the RRAS2 gene ({600098}); and NS13 ({619087}), caused by mutation in the MAPK1 gene ({176948}).\n\nAutosomal recessive forms of Noonan syndrome include NS2 ({605275}), caused by mutation in the LZTR1 gene ({600574}), and NS14 ({619745}), caused by mutation in the SPRED2 gene ({609292}).\n\nSee also Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1; {607721}), caused by mutation in the SHOC2 gene ({602775}); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2; {617506}), caused by mutation in the PPP1CB gene ({600590}); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL; {613563}), caused by mutation in the CBL gene ({165360}).\n\nMutations in the neurofibromin gene (NF1; {613113}), which is the site of mutations causing classic neurofibromatosis type I (NF1; {162200}), have been found in neurofibromatosis-Noonan syndrome (NFNS; {601321}).",[163950],[648],[Noonan syndrome],[10955],,Noonan syndrome 1,TRUE,FALSE,Active +GARD:7224,Active,Orphanet,ORPHA:649,Disorder,[Malformation syndrome],Norrie disease,"[Atrophia bulborum hereditaria, Episkopi blindness, Norrie-Warburg disease]","A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.",[310600],,,,,Norrie disease,TRUE,FALSE,Active +GARD:7225,Legacy,GARD,,,,,,,,,,,,Notalgia paresthetica,FALSE,FALSE,Active +GARD:7226,Active,Orphanet,ORPHA:510,Disorder,[Disease],Lesch-Nyhan syndrome,"[HPRT complete deficiency, HPRT deficiency grade IV, Hypoxanthine guanine phosphoribosyltransferase complete deficiency, Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV]","Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.","[300322, 308950]",,,,,Lesch Nyhan syndrome,TRUE,FALSE,Active +GARD:7229,Legacy,GARD,,,,,,,,,,,,Familial hypertrophic cardiomyopathy,TRUE,FALSE,Active +GARD:7231,Legacy,GARD,,,,,,,,,,,,Ochronosis,TRUE,FALSE,Active +GARD:7236,Legacy,GARD,,,,,,,,,,,,Ocular melanoma,TRUE,FALSE,Active +GARD:7237,Legacy,GARD,,,,,,,,,,,,Ocular motility disorders,TRUE,FALSE,Retired +GARD:7238,Legacy,GARD,,,,,,,,,,,,Ocular toxoplasmosis,TRUE,FALSE,Active +GARD:7239,Active,Orphanet,ORPHA:2710,Disorder,[Malformation syndrome],Oculodentodigital dysplasia,"[Meyer-Schwickerath syndrome, ODDD syndrome, Oculodentoosseous dysplasia]","A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms.","[257850, 164200]",,,,,Oculodentodigital dysplasia,TRUE,FALSE,Active +GARD:7245,Active,Orphanet,ORPHA:270,Disorder,[Disease],Oculopharyngeal muscular dystrophy,[OPMD],"A rare, adult-onset, progressive myopathy characterized by progressive eyelid ptosis, ophthalmoplegia, dysphagia, dysarthria and proximal limb weakness.",[164300],,,,,Oculopharyngeal muscular dystrophy,TRUE,FALSE,Active +GARD:7247,Legacy,GARD,,,,,,,,,,,,Odontoma,TRUE,FALSE,Active +GARD:7248,Legacy,GARD,,,,,,,,,,,,Ogilvie syndrome,TRUE,FALSE,Active +GARD:725,Legacy,GARD,,,,,,,,,,,,Anotia facial palsy cardiac defect,TRUE,FALSE,Active +GARD:7250,Legacy,GARD,,,,,,,,,,,,Olivopontocerebellar atrophy,TRUE,FALSE,Active +GARD:7251,Active,Orphanet,ORPHA:296,Disorder,[Disease],Ollier disease,[Dyschondroplasia],A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.,[166000],,,,,Ollier disease,TRUE,FALSE,Active +GARD:7252,Active,Orphanet,ORPHA:2737,Disorder,[Disease],Onchocerciasis,,"A form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.",,,,,,Onchocerciasis,TRUE,FALSE,Active +GARD:7260,Legacy,GARD,,,,,,,,,,,,Oral leukoplakia,TRUE,FALSE,Active +GARD:7261,Legacy,GARD,,,,,,,,,,,,Oral lichen planus,FALSE,FALSE,Active +GARD:7263,Legacy,GARD,,,,,,,,,,,,Oral squamous cell carcinoma,TRUE,FALSE,Active +GARD:7264,Active,Orphanet,ORPHA:357154,Disorder,[Disease],Oral submucous fibrosis,[OSMF],"Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.",,,,,,Oral submucous fibrosis,TRUE,FALSE,Active +GARD:7266,Legacy,GARD,,,,,,,,,,,,Oral pharyngeal disorders,TRUE,FALSE,Retired +GARD:7269,Active,Orphanet,ORPHA:147,Disorder,[Disease],Carbamoyl-phosphate synthetase 1 deficiency,"[CPS1 deficiency, CPS1D, Carbamoyl-phosphate synthetase I deficiency, Carbamoyl-phosphate synthetase deficiency]","A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.",[237300],,,,,Carbamoyl phosphate synthetase 1 deficiency,TRUE,FALSE,Active +GARD:7272,Legacy,GARD,,,,,,,,,,,,Ornithinemia,TRUE,FALSE,Active +GARD:728,Legacy,GARD,,,,,,,,,,,,"Anterior pituitary insufficiency, familial",TRUE,FALSE,Retired +GARD:7281,Legacy,GARD,,,,,,,,,,,,Osteochondroma,TRUE,FALSE,Active +GARD:7284,Active,Orphanet,ORPHA:668,Disorder,[Disease],Osteosarcoma,[Osteogenic sarcoma],Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.,[259500],,,,,Osteosarcoma,TRUE,FALSE,Active +GARD:7285,Legacy,GARD,,,,,,,,,,,,Osteomalacia,TRUE,FALSE,Active +GARD:7286,Legacy,GARD,,,,,,,,,,,,Osteomyelitis,TRUE,FALSE,Active +GARD:7293,Legacy,GARD,,,,,,,,,,,,Oto-Palatal-digital syndrome,TRUE,FALSE,Active +GARD:7295,Active,Orphanet,ORPHA:213500,Group of disorders,[Category],Ovarian cancer,[Ovarian malignant tumor],,,,,,,Ovarian cancer,TRUE,FALSE,Active +GARD:7296,Active,Orphanet,ORPHA:213512,Disorder,[Disease],Malignant mixed Müllerian tumor of the ovary,"[MMMT of the ovary, Ovarian carcinosarcoma, Ovarian malignant mixed Müllerian tumor, Ovarian malignant mixed epithelial mesenchymal tumor]","Malignant mixed Müllerian tumor of the ovary is a rare and very aggressive neoplasm presenting most commonly in postmenopausal women and is composed of adenocarcinomatous and sarcomatous elements and, depending on the types of these elements, can be classified as homologous or heterologous. It often has a poor prognosis.",,,,,,Ovarian carcinosarcoma,TRUE,FALSE,Active +GARD:7297,Legacy,GARD,,,,,,,,,,,,Ovarian remnant syndrome,TRUE,FALSE,Active +GARD:7299,Active,Orphanet,ORPHA:2796,Disorder,[Malformation syndrome],Pachydermoperiostosis,"[PDP, Touraine-Solente-Gole syndrome]","Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.","[259100, 167100, 614441]",,,,,Pachydermoperiostosis,TRUE,FALSE,Active +GARD:73,Active,Orphanet,ORPHA:101088,Subtype of disorder,[Clinical subtype],X-linked hyper-IgM syndrome,"[HIGM1, Hyper-IgM syndrome due to CD40 ligand deficiency, Hyper-IgM syndrome due to CD40L deficiency, Hyper-IgM syndrome type 1, XHIGM]",,[308230],,,,,Immunodeficiency with hyper IgM type 1,TRUE,FALSE,Active +GARD:730,Active,Orphanet,ORPHA:2194,Disorder,[Disease],Anti-HLA hyperimmunization,,An increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.,,,,,,Anti-HLA hyperimmunization,TRUE,FALSE,Active +GARD:7300,Legacy,GARD,,,,,,,,,,,,Pachygyria,TRUE,FALSE,Active +GARD:7303,Active,Orphanet,ORPHA:180275,Disorder,[Disease],Paget disease of the nipple,"[Mammary Paget disease, Paget disease of the breast, Paget's disease of the nipple]","Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.",,,,,,Paget disease of the breast,TRUE,FALSE,Active +GARD:7304,Legacy,GARD,,,,,,,,,,,,Palindromic rheumatism,TRUE,FALSE,Active +GARD:7305,Active,Orphanet,ORPHA:672,Disorder,[Malformation syndrome],Pallister-Hall syndrome,[Hypothalamic hamartoblastoma syndrome],"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.",[146510],,,,,Pallister-Hall syndrome,TRUE,FALSE,Active +GARD:7308,Legacy,GARD,,,,,,,,,,,,"Pancreatic cancer, childhood",TRUE,FALSE,Retired +GARD:731,Active,Orphanet,ORPHA:79,Disorder,[Disease],Congenital alpha2-antiplasmin deficiency,,"A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones).",[262850],,,,,"Anti-plasmin deficiency, congenital",TRUE,FALSE,Active +GARD:7311,Legacy,GARD,,,,,,,,,,,,Pancreatic islet cell tumors,TRUE,FALSE,Draft +GARD:7312,Active,Orphanet,ORPHA:66624,Disorder,[Disease],PANDAS,"[Pediatric autoimmune disorders associated with Streptococcus infections, Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections]",PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.,,,,,,Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections,TRUE,FALSE,Active +GARD:7313,Legacy,GARD,,,,,,,,,,,,Mesomelic dwarfism of hypoplastic tibia and radius type,TRUE,FALSE,Active +GARD:7318,Legacy,GARD,,,,,,,,,,,,Papilledema,TRUE,FALSE,Active +GARD:732,Legacy,GARD,,,,,,,,,,,,Antigen-peptide-transporter 2 deficiency,TRUE,FALSE,Active +GARD:7320,Legacy,GARD,,,,,,,,,,,,Optic neuritis,TRUE,FALSE,Active +GARD:7321,Active,Orphanet,ORPHA:86795,Group of disorders,[Clinical group],Localized lichen myxedematosus,[Papular mucinosis],"A group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.",,,,,,Papular mucinosis,TRUE,FALSE,Active +GARD:7322,Legacy,GARD,,,,,,,,,,,,Papular urticaria,TRUE,FALSE,Active +GARD:7323,Active,Orphanet,ORPHA:73260,Disorder,[Disease],Paracoccidioidomycosis,,"A rare mycosis characterized by an acute form mostly occurring in children and young adults presenting with fever, weight loss, lymph node enlargement, hepatosplenomegaly, and bone marrow dysfunction, versus a chronic form which usually involves the lungs and mucosae of the upper respiratory tract, skin, lymph nodes, and adrenal glands, but may affect any part of the body. The most common sequelae are chronic respiratory insufficiency and Addison's disease. The infectious agent, Paracoccidioides brasiliensis, is a fungus limited to Latin America.",,,,,,Paracoccidioidomycosis,TRUE,FALSE,Active +GARD:7324,Active,Orphanet+OMIM,OMIM:168000,Subtype of disorder,[Disease subtype],Paragangliomas 1,"[glomus jugulare tumors, paraganglioma, carotid body, chemodectomas, paragangliomata, paragangliomas, familial nonchromaffin, 1, Paragangliomas, familial, 1, glomus tumors, familial, 1, carotid body tumors]","Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors ({8:Baysal, 2002}; {42:Neumann et al., 2004}).\n\nThe triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad ({604287}). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy ({160980}).\n\n{9:Baysal (2008)} provided a review of the molecular pathogenesis of hereditary paraganglioma.\n\n<Subhead> Genetic Heterogeneity of Paragangliomas\n\nSee also PGL4 ({115310}), caused by mutation in the SDHB gene ({185470}) on chromosome 1p36; PGL3 ({605373}), caused by mutation in the SDHC gene ({602413}) on chromosome 1q21; PGL2 ({601650}), caused by mutation in the SDHAF2 gene ({613019}) on chromosome 11q13; PGL5 ({614165}), caused by mutation in the SDHA gene ({600857}) on chromosome 5p15; PGL6 ({618464}), caused by mutation in the SLC25A11 gene ({604165}) on chromosome 17p13; and PGL7 ({618475}), caused by mutation in the DLST gene ({126063}) on chromosome 14q24.",[168000],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,Paragangliomas 1,TRUE,FALSE,Active +GARD:7325,Active,Orphanet,ORPHA:684,Disorder,[Disease],Paramyotonia congenita of Von Eulenburg,[Paramyotonia congenita],Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness.,[168300],,,,,Paramyotonia congenita,TRUE,FALSE,Active +GARD:7326,Active,Orphanet,ORPHA:36388,Group of disorders,[Category],Paraneoplastic neurologic syndrome,[PNS],"Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions.",,,,,,Paraneoplastic cerebellar degeneration,TRUE,FALSE,Active +GARD:7327,Legacy,GARD,,,,,,,,,,,,Paraplegia,TRUE,FALSE,Active +GARD:7328,Legacy,GARD,,,,,,,,,,,,Parapsoriasis,TRUE,FALSE,Active +GARD:7329,Active,Orphanet,ORPHA:143,Disorder,[Disease],Parathyroid carcinoma,,"A rare endocrine tumor characterized by a malignant neoplasm derived from parathyroid parenchymal cells, localized in one of the normally located parathyroid glands or other sites where parathyroid tissue may be present. Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease.",[608266],,,,,Parathyroid carcinoma,TRUE,FALSE,Active +GARD:733,Legacy,GARD,,,,,,,,,,,,Antihypertensive drugs antenatal exposure,TRUE,FALSE,Retired +GARD:7331,Legacy,GARD,,,,,,,,,,,,Parenchymatous cortical degeneration of cerebellum,FALSE,FALSE,Draft +GARD:7335,Active,Orphanet,ORPHA:90035,Disorder,[Disease],Paroxysmal cold hemoglobinuria,"[Donath-Landsteiner hemolytic anemia, Donath-Landsteiner syndrome, PCH]","Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.",,,,,,Paroxysmal cold hemoglobinuria,TRUE,FALSE,Active +GARD:7337,Active,Orphanet,ORPHA:447,Disorder,[Disease],Paroxysmal nocturnal hemoglobinuria,"[Marchiafava-Micheli disease, PNH]","Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.","[300818, 615399]",,,,,Paroxysmal nocturnal hemoglobinuria,TRUE,FALSE,Active +GARD:7338,Active,Orphanet,ORPHA:1214,Disorder,[Disease],Progressive hemifacial atrophy,"[Hemifacial atrophy, PHA, Parry-Romberg syndrome, Progressive facial hemiatrophy, Romberg syndrome]","Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.",[141300],,,,,Progressive hemifacial atrophy,TRUE,FALSE,Active +GARD:7339,Legacy,GARD,,,,,,,,,,,,Pars planitis,TRUE,FALSE,Active +GARD:7341,Active,Orphanet,ORPHA:3378,Disorder,[Malformation syndrome],Trisomy 13,[Patau syndrome],"Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.",,,,,,Trisomy 13,TRUE,FALSE,Active +GARD:7342,Active,Orphanet+OMIM,OMIM:607411,Subtype of disorder,[Morphological anomaly subtype],Patent ductus arteriosus 1,,"Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. ({4:Mitchell et al., 1971}). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis ({7:Ramsay et al., 1987}). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases ({6:Polani and Campbell, 1960}; {2:Lamy et al., 1957}), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor ({5:Nguyen et al., 1997}) and by rare syndromic forms of PDA such as Char syndrome ({169100}), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B ({601601}) ({3:Mani et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Patent Ductus Arteriosus\n\nAutosomal dominant forms of patent ductus arteriosus include PDA2 ({617035}), caused by mutation in the TFAP2B gene ({601601}) on chromosome 6p12, and PDA3 ({617039}), caused by mutation in the PRDM6 gene ({616982}) on chromosome 5q23.\n\n{1:Hajj and Dagle (2012)} reviewed the genetics of patent ductus arteriosus in both term and preterm infants, and discussed possible environmental risk factors as well as animal models of PDA.",[607411],[466729],[Familial patent arterial duct],[17828],,Patent ductus arteriosus,TRUE,FALSE,Active +GARD:7343,Active,Orphanet,ORPHA:699,Disorder,[Disease],Pearson syndrome,,"Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.",[557000],,,,,Pearson syndrome,TRUE,FALSE,Active +GARD:7346,Legacy,GARD,,,,,,,,,,,,Pediatric T-cell leukemia,TRUE,FALSE,Active +GARD:7347,Active,Orphanet,ORPHA:817,Group of disorders,[Clinical group],Peeling skin syndrome,"[Deciduous skin, Familial continuous skin peeling syndrome, Idiopathic deciduous skin, Keratosis exfoliativa congenita, PSS, Peeling skin disease]","Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.",,,,,,Peeling skin syndrome,TRUE,FALSE,Active +GARD:7348,Legacy,GARD,,,,,,,,,,,,Cerebral sclerosis similar to Pelizaeus-Merzbacher disease,TRUE,FALSE,Active +GARD:735,Active,Orphanet,ORPHA:81,Disorder,[Disease],Antisynthetase syndrome,"[AS syndrome, Anti-Jo1 syndrome]","A rare idiopathic inflammatory myopathy (IIM) characterized principally by myositis, generally symmetrical arthritis and interstitial lung disease (ILD) in association with serum autoantibodies to aminoacyl-transfer RNA synthetases (anti-ARS). More variable features include arthralgia, Raynaud phenomenon, heliotrophic rash, distal esophageal dysmotility and mechanic's hands.",,,,,,Antisynthetase syndrome,TRUE,FALSE,Active +GARD:7350,Legacy,GARD,,,,,,,,,,,,Pelvic lipomatosis,TRUE,FALSE,Active +GARD:7352,Legacy,GARD,,,,,,,,,,,,Pemphigus,TRUE,FALSE,Active +GARD:7353,Legacy,GARD,,,,,,,,,,,,Pemphigus and fogo selvagem,TRUE,FALSE,Active +GARD:7354,Active,Orphanet,ORPHA:79481,Disorder,[Disease],Pemphigus foliaceus,,"A rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.",,,,,,Pemphigus foliaceus,TRUE,FALSE,Active +GARD:7355,Active,Orphanet,ORPHA:704,Disorder,[Disease],Pemphigus vulgaris,,"A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected.",[169610],,,,,Pemphigus vulgaris,TRUE,FALSE,Active +GARD:7359,Active,Orphanet,ORPHA:1335,Disorder,[Malformation syndrome],Pentalogy of Cantrell,"[Cantrell deformity, Cantrell syndrome, Thoraco-abdominal syndrome]","Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.",[313850],,,,,Pentalogy of Cantrell,TRUE,FALSE,Active +GARD:736,Legacy,GARD,,,,,,,,,,,,Hereditary antithrombin deficiency type I,TRUE,FALSE,Active +GARD:7360,Active,Orphanet,ORPHA:767,Disorder,[Disease],Polyarteritis nodosa,"[Küssmaul-Maier disease, PAN, Periarteritis nodosa]","A rare, clinically heterogeneous, systemic disease characterized by necrotizing inflammatory lesions affecting medium-sized blood vessels. It most commonly affects skin, joints, peripheral nerves and the gastrointestinal tract.",,,,,,Polyarteritis nodosa,TRUE,FALSE,Active +GARD:7361,Legacy,GARD,,,,,,,,,,,,Perilymphatic fistula,TRUE,FALSE,Active +GARD:7362,Legacy,GARD,,,,,,,,,,,,Perimyositis,TRUE,FALSE,Retired +GARD:7366,Legacy,GARD,,,,,,,,,,,,Supratentorial primitive neuroectodermal tumor,TRUE,FALSE,Active +GARD:7368,Legacy,GARD,,,,,,,,,,,,Peripheral T-cell lymphoma,TRUE,FALSE,Active +GARD:7371,Active,Orphanet+OMIM,OMIM:300049,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 1,"[periventricular nodular heterotopia 4, formerly, heterotopia, familial nodular, nodular heterotopia, bilateral periventricular, heterotopia, periventricular, ehlers-danlos variant, Heterotopia, periventricular, x-linked dominant]","Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles. Most affected individuals with the X-linked form are female, while hemizygous males tend to die in utero. Affected females usually present with epilepsy, but have normal intelligence. Additional features include defects of the cardiovascular system, such as patent ductus arteriosus, bicuspid aortic valve, and dilation of the sinuses of Valsalva or the thoracic aorta (summary by {5:Fox et al., 1998}). Several patients with PVNH and mutations in the FLNA gene have been reported with a spectrum of connective tissue abnormalities characterized by combinations of vascular, cardiac, cutaneous, and joint-related symptoms (summary by {22:Reinstein et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Periventricular Nodular Heterotopia\n\nPeriventricular nodular heterotopia is a genetically heterogeneous condition: see also PVNH2 ({608097}), caused by mutation in the ARFGEF2 gene ({605371}) on chromosome 20q13; PVNH3 ({608098}), associated with anomalies of 5p; PVNH5 ({612881}), associated with deletions of chromosome 5q; PVNH6 ({615544}), caused by mutation in the ERMARD gene ({615532}) on chromosome 6q27; PVNH7 ({617201}), caused by mutation in the NEDD4L gene ({606384}) on chromosome 18q21; PVNH8 ({618185}), caused by mutation in the ARF1 gene ({103180}) on chromosome 1q42; and PVNH9 ({618918}), caused by mutation in the MAP1B gene ({157129}) on chromosome 5q13.\n\nThe form of PVNH that was previously designated the Ehlers-Danlos variant (PVNH4) is now considered to be the same as X-linked PVNH1.",[300049],[98892],[Periventricular nodular heterotopia],[12724],,X-linked periventricular heterotopia,TRUE,FALSE,Active +GARD:7373,Legacy,GARD,,,,,,,,,,,,Perniosis,TRUE,FALSE,Active +GARD:7375,Legacy,GARD,,,,,,,,,,,,Persistent truncus arteriosus,TRUE,FALSE,Active +GARD:7377,Active,Orphanet,ORPHA:708,Disorder,[Morphological anomaly],Peters anomaly,[Peters congenital glaucoma],Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.,"[604229, 612968]",,,,,Peters anomaly,TRUE,FALSE,Active +GARD:7378,Active,Orphanet,ORPHA:2869,Disorder,[Disease],Peutz-Jeghers syndrome,"[Hamartomatous intestinal polyposis, PJS]","A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.",[175200],,,,,Peutz-Jeghers syndrome,TRUE,FALSE,Active +GARD:7379,Legacy,GARD,,,,,,,,,,,,Peyronie disease,FALSE,FALSE,Retired +GARD:738,Active,Orphanet,ORPHA:2037,Disorder,[Morphological anomaly],Congenital aortopulmonary window,"[Congenital aortopulmonary artery fistula, Congenital aortopulmonary septal defect]","A rare congenital non-syndromic heart malformation characterized by a communication between the ascending aorta and the pulmonary trunk in the presence of two normally formed semilunar valves. It may be an isolated finding or occur in association with other anomalies. Severe clinical manifestations, such as congestive heart failure or pulmonary hypertension, typically develop in early life.",,,,,,Aorta-pulmonary artery fistula,TRUE,FALSE,Active +GARD:7380,Active,Orphanet,ORPHA:710,Disorder,[Malformation syndrome],Pfeiffer syndrome,"[ACS5, Acrocephalosyndactyly type 5]","An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.",[101600],,,,,Pfeiffer syndrome,TRUE,FALSE,Active +GARD:7381,Active,Orphanet,ORPHA:526,Disorder,[Disease],Liddle syndrome,"[Pseudoaldosteronism, Pseudohyperaldosteronism type 1]",A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.,"[177200, 618114, 618126]",,,,,Liddle syndrome,TRUE,FALSE,Active +GARD:7383,Active,Orphanet,ORPHA:716,Disorder,[Disease],Phenylketonuria,"[PAH deficiency, PKU, Phenylalanine hydroxylase deficiency]","A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability.",[261600],,,,,Phenylketonuria,TRUE,FALSE,Active +GARD:7385,Active,Orphanet,ORPHA:276621,Disorder,[Disease],Sporadic pheochromocytoma/secreting paraganglioma,,"A rare, isolated, non-familial pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from extra-adrenal chromaffin tissue (paraganglioma). The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.",,,,,,Pheochromocytoma,TRUE,FALSE,Active +GARD:7386,Legacy,GARD,,,,,,,,,,,,Philadelphia-negative chronic myeloid leukemia,TRUE,FALSE,Active +GARD:7387,Active,Orphanet,ORPHA:3103,Disorder,[Malformation syndrome],Roberts syndrome,"[Pseudothalidomide syndrome, Roberts-SC phocomelia syndrome, SC phocomelia, SC pseudothalidomide syndrome]","Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.",[268300],,,,,Roberts syndrome,TRUE,FALSE,Active +GARD:7389,Active,Orphanet,ORPHA:713,Disorder,[Disease],Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,"[GSD due to phosphoglycerate kinase 1 deficiency, Glycogenosis due to phosphoglycerate kinase 1 deficiency]","A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.",[300653],,,,,Phosphoglycerate kinase deficiency,TRUE,FALSE,Active +GARD:739,Active,Orphanet,ORPHA:1110,Disorder,[Malformation syndrome],Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,,"A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.",[107500],,,,,Aortic arch anomaly - peculiar facies - intellectual disability,TRUE,FALSE,Active +GARD:7392,Active,Orphanet,ORPHA:275864,Disorder,[Disease],Behavioral variant of frontotemporal dementia,[bv-FTD],"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.","[619132, 172700, 616437, 600274, 600795]",,,,,Behavioral variant of frontotemporal dementia,TRUE,FALSE,Active +GARD:7396,Active,Orphanet,ORPHA:66627,Disorder,[Disease],Tenosynovial giant cell tumor,"[Diffuse-type GCT, Diffuse-type giant cell tumor, Pigmented villonodular synovitis, TGCT, TSGCT]","A rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursa (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment.",,,,,,Pigmented villonodular synovitis,TRUE,FALSE,Active +GARD:7397,Legacy,GARD,,,,,,,,,,,,Pinta,TRUE,FALSE,Active +GARD:7399,Active,Orphanet,ORPHA:231662,Subtype of disorder,[Clinical subtype],Isolated growth hormone deficiency type IA,"[Congenital IGHD type IA, Congenital isolated GH deficiency type IA, Congenital isolated growth hormone deficiency type IA]",,"[618160, 262400]",,,,,Isolated growth hormone deficiency type 1A,TRUE,FALSE,Active +GARD:740,Active,Orphanet,ORPHA:2299,Disorder,[Morphological anomaly],Aortic arch interruption,,A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.,,,,,,Aortic arch interruption,TRUE,FALSE,Active +GARD:7400,Legacy,GARD,,,,,,,,,,,,Pityriasis lichenoides chronica,TRUE,FALSE,Active +GARD:7401,Active,Orphanet,ORPHA:2897,Disorder,[Disease],Pityriasis rubra pilaris,,"Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.",[173200],,,,,Pityriasis rubra pilaris,TRUE,FALSE,Active +GARD:7402,Legacy,GARD,,,,,,,,,,,,Placenta disorder,TRUE,FALSE,Active +GARD:7403,Active,Orphanet,ORPHA:99928,Disorder,[Disease],Placental site trophoblastic tumor,[PSST],"A rare gestational trophoblastic neoplasm characterized histologically by invasion of myometrium by intermediate trophoblastic cells without chorionic villi and containing human placental lactogen hormone (hPL). Tissue necrosis is usually absent and hemorrhage is mild. The tumor develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. Indicative signs are irregular metrorrhagia some time after spontaneous miscarriage or VTP, presence of metastasis or unexplained metrorrhagia in the weeks and months following normal childbirth or ectopic pregnancy.",,,,,,Trophoblastic tumor placental site,TRUE,FALSE,Active +GARD:7404,Legacy,GARD,,,,,,,,,,,,Anaplastic plasmacytoma,TRUE,FALSE,Active +GARD:7406,Legacy,GARD,,,,,,,,,,,,Plexosarcoma,TRUE,FALSE,Active +GARD:7409,Legacy,GARD,,,,,,,,,,,,Pneumocystis jirovecii pneumonia,TRUE,FALSE,Active +GARD:741,Active,Orphanet,ORPHA:1132,Group of disorders,[Category],Aortic arch defects,,,,,,,,Aortic arches defect,TRUE,FALSE,Active +GARD:7411,Active,Orphanet,ORPHA:2905,Disorder,[Disease],POEMS syndrome,"[Crow-Fukase syndrome, Osteosclerotic myeloma, PEP syndrome, Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome, Takatsuki syndrome]","POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.",,,,,,POEMS syndrome,TRUE,FALSE,Active +GARD:7412,Active,Orphanet,ORPHA:2911,Disorder,[Malformation syndrome],Poland syndrome,"[Poland anomaly, Poland sequence]","A rare congenital malformation characterized by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects.",[173800],,,,,Poland syndrome,TRUE,FALSE,Active +GARD:7413,Active,Orphanet,ORPHA:2912,Disorder,[Disease],Poliomyelitis,,"Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses.",,,,,,Poliomyelitis,TRUE,FALSE,Active +GARD:7414,Legacy,GARD,,,,,,,,,,,,Periarteritis nodosa,TRUE,FALSE,Retired +GARD:7415,Active,Orphanet,ORPHA:439729,Subtype of disorder,[Clinical subtype],Cutaneous polyarteritis nodosa,"[Cutaneous PAN, Cutaneous periarteritis nodosa]","Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN, see this term), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.",,,,,,Cutaneous polyarteritis nodosa,TRUE,FALSE,Active +GARD:7417,Active,Orphanet,ORPHA:728,Disorder,[Disease],Relapsing polychondritis,[Polychondropathia],"A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage along with joint, ocular and cardiovascular involvement.",,,,,,Relapsing polychondritis,TRUE,FALSE,Active +GARD:7419,Legacy,GARD,,,,,,,,,,,,Polycystic kidney disease,FALSE,FALSE,Active +GARD:742,Legacy,GARD,,,,,,,,,,,,Aortic dissection lentiginosis,TRUE,FALSE,Active +GARD:7421,Legacy,GARD,,,,,,,,,,,,Polycystic ovarian syndrome,FALSE,FALSE,Active +GARD:7422,Active,Orphanet,ORPHA:729,Disorder,[Disease],Polycythemia vera,"[Acquired primary erythrocytosis, Osler-Vaquez disease, PV, Polycythemia rubra vera, Vaquez disease]","Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.",[263300],,,,,Polycythemia vera,TRUE,FALSE,Active +GARD:7425,Active,Orphanet,ORPHA:732,Disorder,[Disease],Polymyositis,,"A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.",,,,,,Polymyositis,TRUE,FALSE,Active +GARD:743,Active,Orphanet,ORPHA:3193,Disorder,[Morphological anomaly],Supravalvular aortic stenosis,[SVAS],"A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement).",[185500],,,,,Supravalvular aortic stenosis,TRUE,FALSE,Active +GARD:7430,Active,Orphanet,ORPHA:2940,Disorder,[Disease],Porencephaly,,"A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.","[175780, 614483]",,,,,Porencephaly,TRUE,FALSE,Active +GARD:7431,Legacy,GARD,,,,,,,,,,,,Eccrine porocarcinoma,TRUE,FALSE,Active +GARD:7433,Active,Orphanet,ORPHA:101330,Disorder,[Disease],Porphyria cutanea tarda,[PCT],Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis.,"[176100, 176090]",,,,,Porphyria cutanea tarda,TRUE,FALSE,Active +GARD:7434,Legacy,GARD,,,,,,,,,,,,Post-infectious myocarditis,TRUE,FALSE,Retired +GARD:7437,Legacy,GARD,,,,,,,,,,,,Post-traumatic epilepsy,TRUE,FALSE,Active +GARD:7439,Active,Orphanet,ORPHA:93110,Disorder,[Morphological anomaly],Posterior urethral valve,[PUV],"A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly characterized by an abnormal congenital obstructing membrane or leaflets that are located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.",[618612],,,,,Posterior urethral valves,TRUE,FALSE,Active +GARD:744,Legacy,GARD,,,,,,,,,,,,Aortic valves stenosis of the child,TRUE,FALSE,Active +GARD:7444,Legacy,GARD,,,,,,,,,,,,Smallpox,TRUE,FALSE,Active +GARD:7446,Active,Orphanet,ORPHA:95708,Group of disorders,[Category],Rare precocious puberty,,,,,,,,Precocious puberty,TRUE,FALSE,Active +GARD:745,Legacy,GARD,,,,,,,,,,,,Aortopulmonary window,TRUE,FALSE,Active +GARD:7455,Legacy,GARD,,,,,,,,,,,,Primary agammaglobulinemia,TRUE,FALSE,Active +GARD:7456,Legacy,GARD,,,,,,,,,,,,Primary hyperaldosteronism,FALSE,FALSE,Active +GARD:7459,Active,Orphanet,ORPHA:186,Disorder,[Disease],Primary biliary cholangitis,"[Hanot syndrome, PBC, Primary biliary cirrhosis]","A rare autoimmune cholestatic liver disease characterized by autoimmune mediated damage of small intrahepatic bile ducts leading to cholestasis, fibrosis, and potential cirrhosis.","[614221, 613007, 109720, 613008, 614220]",,,,,Primary biliary cholangitis,TRUE,FALSE,Active +GARD:746,Legacy,GARD,,,,,,,,,,,,Apert like polydactyly syndrome,TRUE,FALSE,Retired +GARD:7465,Legacy,GARD,,,,,,,,,,,,Prinzmetal's variant angina,TRUE,FALSE,Active +GARD:7467,Active,Orphanet,ORPHA:740,Disorder,[Disease],Hutchinson-Gilford progeria syndrome,"[HGPS, Progeria]","Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).",[176670],,,,,Progeria,TRUE,FALSE,Active +GARD:7468,Active,Orphanet,ORPHA:217260,Disorder,[Disease],Progressive multifocal leukoencephalopathy,"[PML, Progressive multifocal leukoencephalitis]",,,,,,,Progressive multifocal leukoencephalopathy,TRUE,FALSE,Active +GARD:7471,Active,Orphanet,ORPHA:683,Disorder,[Disease],Progressive supranuclear palsy,[PSP syndrome],"A rare late-onset neurodegenerative disease characterized by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction.","[601104, 260540, 610898, 609454]",,,,,Progressive supranuclear palsy,TRUE,FALSE,Active +GARD:7473,Active,Orphanet,ORPHA:742,Disorder,[Disease],Prolidase deficiency,[Hyperimidodipeptiduria],"Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.",[170100],,,,,Prolidase deficiency,TRUE,FALSE,Active +GARD:7475,Active,Orphanet,ORPHA:744,Disorder,[Malformation syndrome],Proteus syndrome,[Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome],"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.",[176920],,,,,Proteus syndrome,TRUE,FALSE,Active +GARD:7476,Legacy,GARD,,,,,,,,,,,,Protoporphyria,TRUE,FALSE,Active +GARD:7479,Active,Orphanet,ORPHA:2970,Disorder,[Malformation syndrome],Prune belly syndrome,"[Abdominal muscle deficiency syndrome, Eagle-Barret syndrome, Obrinsky syndrome, Triad syndrome]","A rare lower urinary tract obstruction (LUTO) characterized by varying degrees of an enlarged urinary bladder, dilated ureters, hydronephrosis, and poorly contractile and disorganized detrusor and ureteral smooth muscle, in association with hypoplastic or absent midline abdominal skeletal musculature, and bilaterally undescended testes in males.",[100100],,,,,Prune belly syndrome,TRUE,FALSE,Active +GARD:748,Active,Orphanet,ORPHA:1113,Disorder,[Malformation syndrome],Aphalangy-syndactyly-microcephaly syndrome,,"An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.",[600384],,,,,Aphalangia partial with syndactyly and duplication of metatarsal IV,TRUE,FALSE,Active +GARD:7480,Legacy,GARD,,,,,,,,,,,,Prurigo nodularis,TRUE,FALSE,Active +GARD:7482,Active,Orphanet,ORPHA:132,Disorder,[Disease],Butyrylcholinesterase deficiency,[Pseudocholinesterase deficiency],"Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.",[617936],,,,,Pseudocholinesterase deficiency,TRUE,FALSE,Active +GARD:7486,Active,Orphanet,ORPHA:79443,Disorder,[Disease],Pseudohypoparathyroidism type 1A,"[AHO-PHP syndrome Ia, Albright hereditary osteodystrophy-PHP syndrome Ia]","Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).",[103580],,,,,Pseudohypoparathyroidism type 1A,TRUE,FALSE,Active +GARD:7487,Legacy,GARD,,,,,,,,,,,,Pseudomonas stutzeri infections,TRUE,FALSE,Active +GARD:7488,Active,Orphanet,ORPHA:26790,Disorder,[Disease],Pseudomyxoma peritonei,"[Adenomucinosis, Gelatinous ascites, PMP]",Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.,,,,,,Pseudomyxoma peritonei,TRUE,FALSE,Active +GARD:749,Legacy,GARD,,,,,,,,,,,,Aplasia cutis autosomal recessive,TRUE,FALSE,Retired +GARD:7492,Legacy,GARD,,,,,,,,,,,,Psittacosis,TRUE,FALSE,Active +GARD:7499,Active,Orphanet,ORPHA:747,Disorder,[Disease],Autoimmune pulmonary alveolar proteinosis,"[Autoimmune PAP, aPAP]",A rare primary interstitial lung disease characterized by the accumulation of lipids and proteins related to surfactant in the alveoli in association with the presence of antibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF). The disease leads to a progressive impairment of gas exchange and respiratory insufficiency.,[610910],,,,,Autoimmune pulmonary alveolar proteinosis,TRUE,FALSE,Active +GARD:7501,Active,Orphanet,ORPHA:182090,Group of disorders,[Category],Pulmonary arterial hypertension,[PAH],"Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term).",,,,,,Pulmonary arterial hypertension,TRUE,FALSE,Active +GARD:7503,Active,Orphanet,ORPHA:580951,Disorder,[Disease],Punctate inner choroidopathy,,"A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.",,,,,,Punctate inner choroidopathy,TRUE,FALSE,Active +GARD:7504,Legacy,GARD,,,,,,,,,,,,Pure red cell aplasia,TRUE,FALSE,Active +GARD:7507,Legacy,GARD,,,,,,,,,,,,Hereditary orotic aciduria without megaloblastic anaemia,TRUE,FALSE,Retired +GARD:7508,Legacy,GARD,,,,,,,,,,,,Purpura simplex,FALSE,FALSE,Active +GARD:751,Legacy,GARD,,,,,,,,,,,,Aplasia cutis congenita dominant,TRUE,FALSE,Retired +GARD:7510,Active,Orphanet,ORPHA:48104,Disorder,[Disease],Pyoderma gangrenosum,,Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.,,,,,,Pyoderma gangrenosum,TRUE,FALSE,Active +GARD:7512,Active,Orphanet,ORPHA:3008,Disorder,[Disease],Pyruvate carboxylase deficiency,"[Ataxia with lactic acidosis type 2, Ataxia with lactic acidosis type II, Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, Leigh syndrome due to PC deficiency, Leigh syndrome due to pyruvate carboxylase deficiency]","Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.",[266150],,,,,Pyruvate carboxylase deficiency,TRUE,FALSE,Active +GARD:7513,Active,Orphanet,ORPHA:765,Disorder,[Disease],Pyruvate dehydrogenase deficiency,"[PDH, PDHC, Pyruvate dehydrogenase complex deficiency]","Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms).","[246900, 608782, 245348, 312170, 614111, 245349]",,,,,Pyruvate dehydrogenase complex deficiency,TRUE,FALSE,Active +GARD:7514,Active,Orphanet,ORPHA:766,Disorder,[Disease],Hemolytic anemia due to red cell pyruvate kinase deficiency,[Pyruvate kinase deficiency of erythrocytes],"A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.",[266200],,,,,Pyruvate kinase deficiency,TRUE,FALSE,Active +GARD:7515,Active,Orphanet,ORPHA:781,Disorder,[Disease],Q fever,"[Coxiellosis, Infection due to Coxiella burnetii, Nine Mile fever, Quadrilateral fever, Query fever]","Q fever, caused by Coxiella burnetii, is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic.",,,,,,Q fever,TRUE,FALSE,Active +GARD:7516,Active,Orphanet,ORPHA:770,Disorder,[Disease],Rabies,,Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.,,,,,,Rabies,TRUE,FALSE,Active +GARD:7517,Legacy,GARD,,,,,,,,,,,,Radiation induced angiosarcoma of the breast,TRUE,FALSE,Active +GARD:7519,Legacy,GARD,,,,,,,,,,,,Radiation induced cancer,TRUE,FALSE,Active +GARD:7523,Active,Orphanet,ORPHA:3019,Disorder,[Malformation syndrome],Ramon syndrome,[Cherubism-gingival fibromatosis-intellectual disability syndrome],"A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.",[266270],,,,,Ramon Syndrome,TRUE,FALSE,Active +GARD:7525,Active,Orphanet,ORPHA:3020,Disorder,[Disease],Ramsay Hunt syndrome,"[Facial nerve palsy due to VZV, Facial nerve palsy due to herpes zoster infection, Facial nerve paralysis due to VZV]","A rare infectious disease characterized by herpes zoster oticus associated with peripheral facial nerve palsy, often also with other cranial nerve lesions. Patients present with a painful erythematous vesicular rash in and around one ear and facial paralysis on the same side. Other frequent manifestations include hearing loss, tinnitus, vertigo, nausea, vomiting, and nystagmus.",,,,,,Herpes zoster oticus,TRUE,FALSE,Active +GARD:7527,Legacy,GARD,,,,,,,,,,,,Rasmussen encephalitis,TRUE,FALSE,Active +GARD:753,Active,Orphanet,ORPHA:1116,Disorder,[Disease],Aplasia cutis congenita-intestinal lymphangiectasia syndrome,[Bronspiegel-Zelnick syndrome],"An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.",[207731],,,,,Aplasia cutis congenita intestinal lymphangiectasia,TRUE,FALSE,Active +GARD:7533,Legacy,GARD,,,,,,,,,,,,Rectal neoplasm,TRUE,FALSE,Retired +GARD:7534,Legacy,GARD,,,,,,,,,,,,Rectosigmoid neoplasm,TRUE,FALSE,Retired +GARD:754,Legacy,GARD,,,,,,,,,,,,Aplasia cutis congenita of limbs recessive,TRUE,FALSE,Active +GARD:7545,Legacy,GARD,,,,,,,,,,,,Renal cancer,TRUE,FALSE,Retired +GARD:7548,Active,Orphanet,ORPHA:69076,Disorder,[Disease],Familial renal glucosuria,"[Familial renal glycosuria, SGLT2 deficiency]","A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation.",[233100],,,,,Renal glycosuria,TRUE,FALSE,Active +GARD:755,Legacy,GARD,,,,,,,,,,,,Aplasia cutis congenita recessive,TRUE,FALSE,Retired +GARD:7551,Legacy,GARD,,,,,,,,,,,,Renal rickets,TRUE,FALSE,Active +GARD:7552,Active,Orphanet,ORPHA:314822,Group of disorders,[Clinical group],Primary renal tubular acidosis,,"A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal.",,,,,,Renal tubular acidosis,TRUE,FALSE,Active +GARD:7555,Legacy,GARD,,,,,,,,,,,,Renoprival hypertension,TRUE,FALSE,Active +GARD:7559,Legacy,GARD,,,,,,,,,,,,Reticuloendotheliosis,TRUE,FALSE,Active +GARD:756,Active,Orphanet,ORPHA:1117,Disorder,[Disease],Aplasia cutis-myopia syndrome,[Gershoni-Baruch-Leibo syndrome],"A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.",[601075],,,,,Aplasia cutis myopia,TRUE,FALSE,Active +GARD:7563,Active,Orphanet,ORPHA:790,Disorder,[Disease],Retinoblastoma,,"A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.",[180200],,,,,Retinoblastoma,TRUE,FALSE,Active +GARD:7570,Active,Orphanet,ORPHA:3096,Disorder,[Disease],Reye syndrome,,"A rare, systemic disease characterized by persistent vomiting with confusion, lethargy, disorientation, hyperreflexia, hyperventilation, and tachycardia, with rapid progression to seizures, non-inflammatory encephalopathy, coma and death. It typically develops between 12 hours and 3 weeks after recovery from a viral illness, such as upper respiratory tract infection or gastroenteritis. Hepatomegaly, acute hepatic steatosis, fatty liver degeneration and multiple laboratory abnormalities are associated.",,,,,,Reye syndrome,TRUE,FALSE,Active +GARD:7572,Active,Orphanet,ORPHA:69077,Disorder,[Disease],Rhabdoid tumor,[Malignant rhabdoid tumor],"Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term).","[613325, 609322]",,,,,Rhabdoid tumor,TRUE,FALSE,Active +GARD:7577,Legacy,GARD,,,,,,,,,,,,Rheumatoid vasculitis,TRUE,FALSE,Active +GARD:7578,Legacy,GARD,,,,,,,,,,,,Richter syndrome,TRUE,FALSE,Active +GARD:758,Legacy,GARD,,,,,,,,,,,,Apo A-I deficiency,TRUE,FALSE,Active +GARD:7581,Active,Orphanet,ORPHA:1764,Disorder,[Disease],Familial dysautonomia,"[HSAN3, Hereditary sensory and autonomic neuropathy type 3, Hereditary sensory and autonomic neuropathy type III, Riley-Day syndrome]","A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy.",[223900],,,,,Familial dysautonomia,TRUE,FALSE,Active +GARD:7585,Active,Orphanet,ORPHA:83311,Disorder,[Disease],Rocky Mountain spotted fever,,"A rare, acquired, life-threatening, infectious disease due to the tick-borne bacteria Rickettsia rickettsii characterized by an acute onset of fever, malaise, and severe headache, variably accompanied by myalgia, anorexia, nausea, vomiting, abdominal pain, and photophobia, associating (2-5 days after fever onset) a typically erythematous, blanching or non-blanching, maculopapluar rash with petechiae, starting on the wrists and ankles and progressing centrifugally to the palms and soles and centripetally to the arms, legs and trunk. Additonal variable features may include conjunctivitis, mucosal ulcers, post-inflammatory hyperpigmentation, jaundice, pneumonia, hepatomegaly, renal failure, meningismus, amnesia, optic disc edema, and ocular arterial occlusion.",,,,,,Rocky mountain spotted fever,TRUE,FALSE,Active +GARD:7588,Active,Orphanet,ORPHA:158014,Disorder,[Disease],Rosaï-Dorfman disease,"[Destombes-Rosaï-Dorfman disease, Rosaï-Dorfman-Destombes disease, SHML, Sinus histiocytosis with massive lymphadenopathy]","A rare non-Langerhans cell histiocytosis characterized by infiltration of lymph nodes or extranodal tissues by non-malignant histiocytes displaying emperipolesis, a non-destructive phagocytosis of lymphocytes or erythrocytes. Most typical presentation is as a massive cervical lymphadenopathy in adolescents and young adults. Most frequent sites of extranodal disease are skin, soft tissue, bones, paranasal sinuses, orbit, salivary glands, and central nervous system. Symptoms are related to mass effect in the affected organs.",,,,,,Rosai-Dorfman disease,TRUE,FALSE,Active +GARD:759,Active,Orphanet,ORPHA:309020,Subtype of disorder,[Etiological subtype],Familial apolipoprotein C-II deficiency,"[Familial APOC2 deficiency, Familial apoC-II deficiency]",,[207750],,,,,Apolipoprotein C-II deficiency,TRUE,FALSE,Active +GARD:7593,Active,Orphanet,ORPHA:783,Disorder,[Malformation syndrome],Rubinstein-Taybi syndrome,"[Broad thumb-hallux syndrome, Broad thumbs-halluces syndrome]","A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.","[613684, 180849, 610543]",,,,,Rubinstein-Taybi syndrome,TRUE,FALSE,Active +GARD:7594,Legacy,GARD,,,,,,,,,,,,Rumination disorder,TRUE,FALSE,Active +GARD:7597,Legacy,GARD,,,,,,,,,,,,Sacral plexopathy,TRUE,FALSE,Active +GARD:7598,Active,Orphanet,ORPHA:794,Disorder,[Malformation syndrome],Saethre-Chotzen syndrome,"[ACS3, Acrocephalosyndactyly type 3, SCS]","A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.","[180750, 101400]",,,,,Saethre-Chotzen syndrome,TRUE,FALSE,Active +GARD:76,Active,Orphanet,ORPHA:238468,Disorder,[Disease],Hypohidrotic ectodermal dysplasia,"[Anhidrotic ectodermal dysplasia, HED]","A rare genetic ectodermal dysplasia syndrome characterized by sparse hair, abnormal or missing teeth, decrease or absent sudation and typical facial features.","[224900, 300291, 305100, 614940, 614941, 129490, 612132]",,,,,Hypohidrotic ectodermal dysplasia,TRUE,FALSE,Active +GARD:7604,Active,Orphanet,ORPHA:309155,Subtype of disorder,[Clinical subtype],"Sandhoff disease, infantile form","[Hexosaminidases A and B deficiency, infantile form, Infantile GM2 gangliosidosis 0 variant]",,[268800],,,,,Sandhoff disease,TRUE,FALSE,Active +GARD:7606,Active,Orphanet,ORPHA:793,Disorder,[Disease],SAPHO syndrome,[Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome],"A rare, pyogenic autoinflammatory disease, characterized by the association of neutrophilic cutaneous involvement and chronic nonbacterial osteomyelitis.",,,,,,SAPHO syndrome,TRUE,FALSE,Active +GARD:7607,Active,Orphanet,ORPHA:797,Disorder,[Disease],Sarcoidosis,"[Besnier-Boeck-Schaumann disease, Boeck sarcoid]","A rare multisystemic, autoinflammatory disorder of unknown etiology characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome.","[612388, 181000, 612387]",,,,,Sarcoidosis,FALSE,FALSE,Active +GARD:7608,Active,Orphanet,ORPHA:431272,Disorder,[Disease],X-linked scapuloperoneal muscular dystrophy,"[X-linked SPMD, X-linked scapuloperoneal syndrome]","A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging.",[300695],,,,,X-linked dominant scapuloperoneal myopathy,TRUE,FALSE,Active +GARD:7609,Legacy,GARD,,,,,,,,,,,,Pigmented purpuric dermatosis,TRUE,FALSE,Active +GARD:7610,Active,Orphanet,ORPHA:3135,Disorder,[Malformation syndrome],Familial Scheuermann disease,"[Familial Scheuermann juvenile kyphosis, Familial spinal osteochondrosis]","Familial Scheuermann disease is characterized by kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl's nodes, disk-space narrowing, and vertebral wedging and is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls.",[181440],,,,,Scheuermann disease,TRUE,FALSE,Active +GARD:7611,Active,Orphanet,ORPHA:3143,Disorder,[Disease],Autoimmune polyendocrinopathy type 2,"[APS type 2, APS2, Autoimmune polyendocrine syndrome type 2, Autoimmune polyglandular syndrome type 2, Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome, Schmidt syndrome]","A rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present.",[269200],,,,,Autoimmune polyglandular syndrome type 2,TRUE,FALSE,Active +GARD:7615,Active,Orphanet,ORPHA:167635,Disorder,[Disease],Scleromyxedema,"[Arndt-Gottron disease, Generalized lichenoid papular eruption, Generalized papular and sclerodermoid lichen myxedematosus]","A rare lichen myxedematosus characterized by a progressive, generalized, papular, sclerodermoid cutaneous eruption usually occurring in association with monoclonal gammopathy, but in the absence of thyroid disease. Histological hallmark is the triad of dermal mucin deposition, fibroblast proliferation, and fibrosis. Patients present with relatively sudden onset of numerous closely spaced, waxy, firm papules and plaques predominantly involving the head, neck, trunk, and dorsal aspects of the extremities, on the background of thickened, edematous, erythematous skin with sclerodermoid appearance. Systemic involvement with cardiovascular, gastrointestinal, pulmonary, musculoskeletal, renal, or nervous system complications is common.",,,,,,Scleromyxedema,TRUE,FALSE,Active +GARD:7617,Active,Orphanet,ORPHA:454745,Disorder,[Disease],Kuru,,"A rare acquired human prion disease characterized by rapidly progressive, fatal neurodegeneration, caused by the consumption of prion-containing tissue in endocannibalistic funeral rituals in Papua New Guinea until the late 1950s. After a decades-long asymptomatic period and a non-specific prodromal phase with headaches and arthralgia, the most prominent neurological feature is ataxia, in addition to other symptoms involving the cerebellum, brain stem, mid-brain, hypothalamus, and cerebral cortex, and emotional changes including inappropriate euphoria and compulsive laughter, or depression and apprehension. The last reported patient died in 2005 with an incubation period extending over four decades.",[245300],,,,,Kuru,TRUE,FALSE,Active +GARD:762,Legacy,GARD,,,,,,,,,,,,APUDoma,TRUE,FALSE,Retired +GARD:7624,Legacy,GARD,,,,,,,,,,,,Selenium poisoning,TRUE,FALSE,Active +GARD:7627,Active,Orphanet,ORPHA:3157,Disorder,[Malformation syndrome],Septo-optic dysplasia spectrum,"[De Morsier syndrome, SOD, Septo-optic dysplasia]","Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.",[182230],,,,,Septo-optic dysplasia spectrum,TRUE,FALSE,Active +GARD:7628,Active,Orphanet,ORPHA:183660,Group of disorders,[Clinical group],Severe combined immunodeficiency,[SCID],"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells.",,,,,,Severe combined immunodeficiency,TRUE,FALSE,Active +GARD:7629,Active,Orphanet,ORPHA:3162,Disorder,[Disease],Sézary syndrome,[Sézary lymphoma],"Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).",,,,,,Sezary syndrome,TRUE,FALSE,Active +GARD:763,Legacy,GARD,,,,,,,,,,,,"Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis",TRUE,FALSE,Active +GARD:7630,Active,Orphanet,ORPHA:91355,Disorder,[Malformation syndrome],Sheehan syndrome,,"Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libido, weakness, fatigue, anorexia, nausea, vomiting, hypoglycemia, hyponatremia, dizziness, decreased muscle mass, adrenal crisis). Secondary hypothyroidism and secondary adrenal insufficiency may also be presenting signs.",,,,,,Sheehan syndrome,TRUE,FALSE,Active +GARD:7633,Active,Orphanet,ORPHA:3163,Disorder,[Malformation syndrome],SHORT syndrome,"[Lipodystrophy-Rieger anomaly-diabetes syndrome, Rieger anomaly-partial lipodystrophy syndrome]","A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.",[269880],,,,,SHORT syndrome,TRUE,FALSE,Active +GARD:7636,Legacy,GARD,,,,,,,,,,,,Shwartzman phenomenon,TRUE,FALSE,Active +GARD:7637,Legacy,GARD,,,,,,,,,,,,Multiple system atrophy (MSA) with orthostatic hypotension,TRUE,FALSE,Retired +GARD:7638,Legacy,GARD,,,,,,,,,,,,Sialadenitis,TRUE,FALSE,Active +GARD:7639,Active,Orphanet,ORPHA:812,Disorder,[Disease],Sialidosis type 1,"[Cherry-red spot-myoclonus syndrome, Lipomucopolysaccharidosis, Normomorphic sialidosis]","Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.",[256550],,,,,Sialidosis type I,TRUE,FALSE,Active +GARD:764,Active,Orphanet,ORPHA:1130,Disorder,[Malformation syndrome],Arachnodactyly-intellectual disability-dysmorphism syndrome,[De Die-Smulders-Vles-Fryns syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.",,,,,,Arachnodactyly - intellectual disability - dysmorphism,TRUE,FALSE,Active +GARD:7644,Legacy,GARD,,,,,,,,,,,,Sideroblastic anemia acquired,TRUE,FALSE,Retired +GARD:7645,Legacy,GARD,,,,,,,,,,,,Siderosis,TRUE,FALSE,Active +GARD:7647,Legacy,GARD,,,,,,,,,,,,Silicosis,TRUE,FALSE,Active +GARD:7648,Legacy,GARD,,,,,,,,,,,,Simian B virus infection,TRUE,FALSE,Active +GARD:7649,Active,Orphanet,ORPHA:373,Disorder,[Malformation syndrome],Simpson-Golabi-Behmel syndrome,"[DGSX, Golabi-Rosen syndrome, SDYS, SGBS, SGBS1, Simpson dysmorphia syndrome, Simpson-Golabi-Behmel syndrome type 1, X-linked dysplasia gigantism syndrome]","A rare X-linked multiple congenital anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.",[312870],,,,,Simpson-Golabi-Behmel syndrome,TRUE,FALSE,Active +GARD:7650,Legacy,GARD,,,,,,,,,,,,Sinus cancer,TRUE,FALSE,Active +GARD:7652,Active,Orphanet,ORPHA:3169,Disorder,[Malformation syndrome],Sirenomelia,,"A rare, lethal, congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore, there is wide phenotipical variability in the musculoskeletal, central nervous system, cardiopulmonary, anomalies present. Pelvic, sacral and spinal defects , internal and external genitalia defects, renal agenesis, absent bladder, rectal/anal atresia are commonly described. Most cases are stillborn or die during, or shortly after, birth. Sirenomelia can be classified on the basis of limb malformations phenotypes. Due to the similarity, the distinction between sirenomelia and caudal regression syndrome, familial caudal dysgenesis and VACTERL is debated.",[600145],,,,,Sirenomelia,TRUE,FALSE,Active +GARD:7653,Active,Orphanet,ORPHA:2882,Disorder,[Disease],Sitosterolemia,[Phytosterolemia],"Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.","[210250, 618666]",,,,,Sitosterolemia,TRUE,FALSE,Active +GARD:7654,Active,Orphanet,ORPHA:816,Disorder,[Disease],Sjögren-Larsson syndrome,[Fatty acid alcohol oxidoreductase deficiency],"A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.",[270200],,,,,Sjogren-Larsson syndrome,TRUE,FALSE,Active +GARD:7656,Legacy,GARD,,,,,,,,,,,,Skeletal dysplasias,FALSE,FALSE,Active +GARD:7664,Active,Orphanet,ORPHA:820,Disorder,[Disease],Sneddon syndrome,"[Ehrmann-Sneddon syndrome, Livedo racemosa-cerebrovascular accident syndrome, Livedo reticularis-cerebrovascular accident syndrome]",Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.,[182410],,,,,Sneddon syndrome,TRUE,FALSE,Active +GARD:7668,Legacy,GARD,,,,,,,,,,,,Spasmodic dysphonia,TRUE,FALSE,Active +GARD:7672,Active,Orphanet,ORPHA:79225,Group of disorders,[Category],Sphingolipidosis,,,,,,,,Sphingolipidosis,TRUE,FALSE,Active +GARD:7673,Active,Orphanet,ORPHA:823,Group of disorders,[Clinical group],Isolated spina bifida,,"A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development, not associated with other major congenital malformations nor ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.","[601634, 301410, 182940]",,,,,Spina bifida,TRUE,FALSE,Active +GARD:7674,Legacy,GARD,,,,,,,,,,,,Spinal muscular atrophy,TRUE,FALSE,Active +GARD:7675,Legacy,GARD,,,,,,,,,,,,Spinal bulbar motor neuropathy,TRUE,FALSE,Retired +GARD:7679,Legacy,GARD,,,,,,,,,,,,Spinal cord neoplasm,TRUE,FALSE,Retired +GARD:7680,Legacy,GARD,,,,,,,,,,,,Spinal shock,TRUE,FALSE,Active +GARD:7682,Legacy,GARD,,,,,,,,,,,,Spirochetes disease,TRUE,FALSE,Active +GARD:7683,Legacy,GARD,,,,,,,,,,,,Splenic neoplasm,TRUE,FALSE,Active +GARD:7684,Legacy,GARD,,,,,,,,,,,,Splenomegaly,TRUE,FALSE,Active +GARD:7685,Legacy,GARD,,,,,,,,,,,,Split hand foot malformation 1,TRUE,FALSE,Retired +GARD:7687,Active,Orphanet,ORPHA:253,Group of disorders,[Clinical group],Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia,[SED and SEMD],,,,,,,Spondyloepiphyseal dysplasia,TRUE,FALSE,Active +GARD:7690,Active,Orphanet,ORPHA:356,Disorder,[Disease],Gerstmann-Straussler-Scheinker syndrome,"[Subacute spongiform encephalopathy, Gerstmann-Straussler type]","A rare inherited human prion disease characterized by adult onset of slowly progressive cerebellar ataxia, with dementia developing relatively late in the disease course (classic ataxic phenotype). Patients may present with gait disturbances and frequent falls, dysarthria, dysphagia, nystagmus, dysmetry, and eventually pancerebellar syndrome, myoclonus, spasticity, severe dementia, and mutism. The disease is invariably fatal after five years on average. Neuropathological hallmark is the presence of numerous multicentric prion protein plaques in the cerebral and cerebellar cortex.",[137440],,,,,Gerstmann-Straussler-Scheinker disease,TRUE,FALSE,Active +GARD:7692,Active,Orphanet,ORPHA:826,Disorder,[Disease],Sporotrichosis,,"Sporotrichosis is an infection caused by the dimorphic fungus Sporothrix schenckii, generally occurring by traumatic inoculation of fungus from contaminated soil, plants, and organic matter, that has a highly variable disease spectrum but that usually presents as a subcutaneous mycosis with a single sporotrichotic chancre that may ulcerate and can then progress to lymphocutaneous (most common form; sporotrichotic chancre at inoculation site and a string of similar nodules along the proximal lymphatics), fixed cutaneous (localized asymptomatic, erythematous, papules at the inoculation site), or multifocal or disseminated cutaneous (rare form, with 3 or more lesions involving 2 different anatomical sites) forms. Pulmonary sporotrichosis occurs following inhalation of fungus and manifests as chronic pneumonitis while extracutaneous or systemic sporotrichosis (with osteoarticular, pulmonary, and central nervous system/meningeal disease) has also been reported, usually occurring in the setting of immunosuppression.",,,,,,Sporotrichosis,TRUE,FALSE,Active +GARD:7693,Active,Orphanet,ORPHA:3181,Disorder,[Morphological anomaly],Sprengel deformity,[High scapula],"A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others.",[184400],,,,,Sprengel deformity,TRUE,FALSE,Active +GARD:7695,Active,Orphanet,ORPHA:22,Disorder,[Disease],Succinic semialdehyde dehydrogenase deficiency,"[4-hydroxybutyric aciduria, Gamma-hydroxybutyric aciduria, SSADH deficiency]","A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.",[271980],,,,,Succinic semialdehyde dehydrogenase deficiency,TRUE,FALSE,Active +GARD:770,Active,Orphanet,ORPHA:35708,Disorder,[Disease],Aromatic L-amino acid decarboxylase deficiency,[AADC deficiency],"A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion).",[608643],,,,,Aromatic L-amino acid decarboxylase deficiency,TRUE,FALSE,Active +GARD:7700,Active,Orphanet,ORPHA:36426,Subtype of disorder,[Clinical subtype],Stevens-Johnson syndrome,"[Dermatostomatitis, Stevens Johnson type]",A limited form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.,[608579],,,,,Stevens-Johnson syndrome/toxic epidermal necrolysis,TRUE,FALSE,Active +GARD:7704,Legacy,GARD,,,,,,,,,,,,Stomach cancer,TRUE,FALSE,Active +GARD:7706,Active,Orphanet,ORPHA:3205,Disorder,[Malformation syndrome],Sturge-Weber syndrome,"[Encephalofacial angiomatosis, Encephalotrigeminal angiomatosis, SWS, Sturge-Weber-Dimitri syndrome, Sturge-Weber-Krabbe angiomatosis, Sturge-Weber-Krabbe syndrome]",A rare congenital neurocutaneous syndrome defined by a facial capillary malformation or port-wine birthmark (PWB) associated with cerebral and ocular ipsilateral vascular malformations in most of the cases resulting in variable ocular and neurological complications.,[185300],,,,,Sturge-Weber syndrome,TRUE,FALSE,Active +GARD:7708,Active,Orphanet,ORPHA:2806,Disorder,[Disease],Subacute sclerosing leukoencephalitis,"[Dawson encephalitis, SSPE, Subacute inclusion body encephalitis, Subacute sclerosing panencephalitis, Van Bogaert disease, Van Bogaert encephalitis]",A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.,[260470],,,,,Subacute sclerosing panencephalitis,TRUE,FALSE,Active +GARD:771,Legacy,GARD,,,,,,,,,,,,Arroyo Garcia Cimadevilla syndrome,TRUE,FALSE,Active +GARD:7710,Active,Orphanet,ORPHA:35122,Disorder,[Disease],Congenital sucrase-isomaltase deficiency,"[CSID, Congenital sucrose intolerance, Disaccharide intolerance]","A rare, genetic, congenital carbohydrate intolerance disorder characterized by lack of endogenous sucrase activity, marked reduction in isomaltase activity, and moderate decrease in maltase activity, and clinically manifesting with diarrhea, abdominal pain and bloating, failure to thrive.",[222900],,,,,Congenital sucrase-isomaltase deficiency,TRUE,FALSE,Active +GARD:7711,Legacy,GARD,,,,,,,,,,,,Sudden infant death syndrome,TRUE,FALSE,Active +GARD:7712,Active,Orphanet,ORPHA:622099,Disorder,[Disease],Superior mesenteric artery syndrome,"[SMAS, Wilkie syndrome]",,,,,,,Superior mesenteric artery syndrome,TRUE,FALSE,Active +GARD:7713,Active,Orphanet,ORPHA:838,Disorder,[Disease],Susac syndrome,[Retinocochleocerebral vasculopathy],"A rare systemic or rheumatologic disease characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL) due to autoimmune-mediated occlusions of microvessels in the brain, retina, and inner ear.",,,,,,Susac syndrome,TRUE,FALSE,Active +GARD:7714,Legacy,GARD,,,,,,,,,,,,Sutton disease 2,TRUE,FALSE,Active +GARD:7716,Active,Orphanet,ORPHA:306731,Disorder,[Particular clinical situation in a disease or syndrome],Sydenham chorea,,,,,,,,Sydenham's chorea,TRUE,FALSE,Active +GARD:7719,Legacy,GARD,,,,,,,,,,,,Synovial cancer,TRUE,FALSE,Retired +GARD:7720,Legacy,GARD,,,,,,,,,,,,"Synovial chondromatosis, familial with dwarfism",TRUE,FALSE,Active +GARD:7721,Active,Orphanet,ORPHA:3273,Disorder,[Disease],Synovial sarcoma,[Synovialosarcoma],"Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).",[300813],,,,,Synovial sarcoma,TRUE,FALSE,Active +GARD:7722,Legacy,GARD,,,,,,,,,,,,Synovitis,TRUE,FALSE,Active +GARD:7724,Legacy,GARD,,,,,,,,,,,,Syringobulbia,TRUE,FALSE,Active +GARD:7725,Active,Orphanet,ORPHA:3280,Group of disorders,[Clinical group],Syringomyelia,[Hydromyelia],"Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).",[186700],,,,,Syringomyelia,TRUE,FALSE,Active +GARD:7727,Legacy,GARD,,,,,,,,,,,,Diffuse scleroderma,TRUE,FALSE,Retired +GARD:7728,Legacy,GARD,,,,,,,,,,,,T-Lymphocytopenia,TRUE,FALSE,Retired +GARD:7730,Active,Orphanet,ORPHA:3287,Disorder,[Disease],Takayasu arteritis,,"A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.",[207600],,,,,Takayasu arteritis,TRUE,FALSE,Active +GARD:7731,Active,Orphanet,ORPHA:31150,Disorder,[Disease],Tangier disease,"[ATP-binding cassette transporter A1 deficiency, Analphalipoproteinemia]","A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease.",[205400],,,,,Tangier disease,TRUE,FALSE,Active +GARD:7732,Legacy,GARD,,,,,,,,,,,,Tardive dyskinesia,FALSE,FALSE,Active +GARD:7733,Legacy,GARD,,,,,,,,,,,,Tarsal tunnel syndrome,TRUE,FALSE,Active +GARD:7737,Active,Orphanet,ORPHA:845,Disorder,[Disease],Tay-Sachs disease,"[GM2 gangliosidosis, B, B1 variant, Hexosaminidase A deficiency]",A rare disorder characterized by accumulation of G2 gangliosides due to hexosaminidase A deficiency.,[272800],,,,,Tay-Sachs disease,TRUE,FALSE,Active +GARD:774,Active,Orphanet,ORPHA:3342,Disorder,[Malformation syndrome],Arterial tortuosity syndrome,[ATS],"A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.",[208050],,,,,Arterial tortuosity syndrome,TRUE,FALSE,Active +GARD:7741,Legacy,GARD,,,,,,,,,,,,Telencephalic leukoencephalopathy,FALSE,FALSE,Retired +GARD:7743,Active,Orphanet,ORPHA:95455,Disorder,[Disease],Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,"[SJS-TEN, Toxic epidermolysis]",Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.,[608579],,,,,Toxic epidermal necrolysise,TRUE,FALSE,Retired +GARD:7744,Legacy,GARD,,,,,,,,,,,,Malignant Teratocarcinosarcoma,TRUE,FALSE,Active +GARD:7746,Legacy,GARD,,,,,,,,,,,,Testicular cancer,TRUE,FALSE,Retired +GARD:775,Legacy,GARD,,,,,,,,,,,,Arthritis short stature deafness,TRUE,FALSE,Retired +GARD:7751,Active,Orphanet,ORPHA:238583,Disorder,[Disease],Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,"[Hyperphenylalaninemia due to BH4 deficiency, Non-phenylketonuric hyperphenylalaninemia]","An amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.","[233910, 261630, 261640, 264070]",,,,,Tetrahydrobiopterin deficiency,TRUE,FALSE,Active +GARD:7754,Active,Orphanet,ORPHA:9,Disorder,[Malformation syndrome],Tetrasomy X,"[48,XXXX syndrome, Quadruple X, Tetra X]","Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).",,,,,,Tetrasomy X,TRUE,FALSE,Active +GARD:7756,Legacy,GARD,,,,,,,,,,,,Thalassemia,TRUE,FALSE,Active +GARD:7759,Active,Orphanet,ORPHA:97330,Disorder,[Disease],Thoracic outlet syndrome,"[TOS, Thoracic outlet compression syndrome]","Thoracic outlet syndrome (TOS) is a group of disorders characterized by paresthesias, pain and weakness of the upper extremities due to compression, tension or inflammation of the neurovascular bundle as it passes through the thoracic outlet. There are 3 forms of TOS with different clinical pictures and etiologies: neurogenic TOS (NTOS) that can be divided into true or disputed forms, arterial TOS (ATOS) and venous TOS (VTOS) (see these terms).",,,,,,Thoracic outlet syndromes,FALSE,FALSE,Active +GARD:7760,Legacy,GARD,,,,,,,,,,,,Thrombasthenia,TRUE,FALSE,Active +GARD:7767,Legacy,GARD,,,,,,,,,,,,"Thymoma, childhood",TRUE,FALSE,Retired +GARD:777,Active,Orphanet,ORPHA:1037,Group of disorders,[Clinical group],Arthrogryposis multiplex congenita,"[AMC, Multiple congenital arthrogryposis]",A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.,,,,,,Arthrogryposis multiplex congenita,TRUE,FALSE,Active +GARD:7771,Legacy,GARD,,,,,,,,,,,,Tick paralysis,TRUE,FALSE,Active +GARD:7772,Active,Orphanet,ORPHA:42665,Disorder,[Malformation syndrome],Tietz syndrome,"[Hypopigmentation-deafness syndrome, Hypopigmentation-hearing loss syndrome]","Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.",[103500],,,,,Tietz syndrome,TRUE,FALSE,Active +GARD:7776,Legacy,GARD,,,,,,,,,,,,Togaviridae disease,TRUE,FALSE,Active +GARD:7777,Active,Orphanet,ORPHA:64686,Disorder,[Disease],Tolosa-Hunt syndrome,[Painful ophthalmoplegia],"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.",,,,,,Tolosa Hunt syndrome,TRUE,FALSE,Active +GARD:7779,Legacy,GARD,,,,,,,,,,,,Tongue cancer,TRUE,FALSE,Active +GARD:7781,Legacy,GARD,,,,,,,,,,,,TORCH syndrome,TRUE,FALSE,Active +GARD:7782,Legacy,GARD,,,,,,,,,,,,"Dystonia 7, torsion",TRUE,FALSE,Retired +GARD:7783,Legacy,GARD,,,,,,,,,,,,Tourette syndrome,FALSE,FALSE,Active +GARD:7784,Active,Orphanet,ORPHA:857,Disorder,[Malformation syndrome],Townes-Brocks syndrome,"[Imperforate anus-hand, foot and ear anomalies syndrome, REAR syndrome, Renal-ear-anal-radial syndrome, Sensorineural deafness with imperforate anus and hypoplastic thumbs, Sensorineural hearing loss with imperforate anus and hypoplastic thumbs, TBS, Townes syndrome]","A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.","[617466, 107480]",,,,,Townes-Brocks syndrome,TRUE,FALSE,Active +GARD:7788,Legacy,GARD,,,,,,,,,,,,Toxocariasis,FALSE,FALSE,Active +GARD:779,Legacy,GARD,,,,,,,,,,,,Arthrogryposis due to muscular dystrophy,TRUE,FALSE,Active +GARD:7791,Legacy,GARD,,,,,,,,,,,,Tracheobronchomalacia,TRUE,FALSE,Active +GARD:7792,Legacy,GARD,,,,,,,,,,,,Tracheoesophageal fistula,TRUE,FALSE,Active +GARD:7793,Active,Orphanet,ORPHA:98871,Disorder,[Disease],Transient erythroblastopenia of childhood,[Transient acquired pure red cell aplasia],"A rare, benign, red cell aplasia of young children or infants characterized by a normocytic normochromic anaemia with severe reticulocytopenia in otherwise normocellular bone marrow, and a complete spontaneous recovery within 1-2 months after diagnosis. Neutropenia and thrombocytosis may be associated findings at diagnosis, and a history of a preceding viral illness is frequent. No organomegaly is observed.",[227050],,,,,Transient erythroblastopenia of childhood,TRUE,FALSE,Active +GARD:7794,Legacy,GARD,,,,,,,,,,,,Transitional cell carcinoma,TRUE,FALSE,Active +GARD:7795,Active,Orphanet,ORPHA:216675,Group of disorders,[Category],Transposition of the great arteries,"[Complete transposition, TGA, TGV, Transposition of the great vessels]",,,,,,,Transposition of the great arteries,TRUE,FALSE,Active +GARD:7796,Legacy,GARD,,,,,,,,,,,,Transverse myelitis,TRUE,FALSE,Active +GARD:7798,Legacy,GARD,,,,,,,,,,,,Treponema infection,TRUE,FALSE,Active +GARD:7799,Active,Orphanet,ORPHA:3352,Disorder,[Malformation syndrome],Tricho-dento-osseous syndrome,[TDO syndrome],"Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.",[190320],,,,,Tricho-dento-osseous syndrome,TRUE,FALSE,Active +GARD:7800,Active,Orphanet+OMIM,OMIM:190350,Subtype of disorder,[Malformation syndrome subtype],"Trichorhinophalangeal syndrome, type i",[Trps i],"Trichorhinophalangeal syndrome type I (TRPS1) is an autosomal dominant malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature (summary by {25:Momeni et al., 2000}).",[190350],[77258],[Trichorhinophalangeal syndrome type 1 and 3],[15017],,Trichorhinophalangeal syndrome type 1,TRUE,FALSE,Active +GARD:7801,Active,Orphanet,ORPHA:502,Disorder,[Malformation syndrome],Trichorhinophalangeal syndrome type 2,"[Deletion 8q24.1, Langer-Giedion syndrome, Monosomy 8q24.1]","A rare multiple congenital anomalies syndrome characterized by the association of intellectual disability and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped phalangeal epiphyses.",[150230],,,,,Trichorhinophalangeal syndrome type 2,TRUE,FALSE,Active +GARD:7802,Active,Orphanet+OMIM,OMIM:190351,Subtype of disorder,[Malformation syndrome subtype],"Trichorhinophalangeal syndrome, type iii",[Sugio-kajii syndrome],"Trichorhinophalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Craniofacial features include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose, protruding ears, long flat philtrum, and thin upper vermillion border. The most typical radiographic findings in TRPS are cone-shaped epiphyses, predominantly at the middle phalanges. Hip malformations such as coxa plana, coxa magna, or coxa vara are present in over 70% of patients. In older patients, the hip abnormalities resemble degenerative arthrosis. TRPS3 differs from TRPS1 by the presence of severe brachydactyly, due to short metacarpals, and severe short stature (summary by {2:Ludecke et al., 2001}).",[190351],[77258],[Trichorhinophalangeal syndrome type 1 and 3],[15017],,Trichorhinophalangeal syndrome type 3,TRUE,FALSE,Active +GARD:7803,Legacy,GARD,,,,,,,,,,,,Trichotillomania,FALSE,FALSE,Active +GARD:7805,Active,Orphanet,ORPHA:221091,Disorder,[Disease],Trigeminal neuralgia,,"A rare acquired peripheral neuropathy characterized by paroxysmal, sharp, stabbing, electric-shock-like orofacial pain, that is restricted to one or more of the trigeminal nerve divisions and mostly unilateral. Attacks are brief (few seconds to a maximum of two minutes), but typically occur repeatedly and periodically, can arise spontaneously or be triggered by innocuous stimuli, and are frequently accompanied by tic-like cramps of facial muscles. The condition affects women more often than men.",[190400],,,,,Trigeminal neuralgia,TRUE,FALSE,Active +GARD:781,Legacy,GARD,,,,,,,,,,,,Arthrogryposis epileptic seizures migrational brain disorder,TRUE,FALSE,Active +GARD:7815,Legacy,GARD,,,,,,,,,,,,Mosaic trisomy 6,TRUE,FALSE,Active +GARD:782,Legacy,GARD,,,,,,,,,,,,Arthrogryposis IUGR thoracic dystrophy,TRUE,FALSE,Active +GARD:7821,Legacy,GARD,,,,,,,,,,,,Chromosome 9q duplication,TRUE,FALSE,Active +GARD:7824,Legacy,GARD,,,,,,,,,,,,Tropical sprue,TRUE,FALSE,Active +GARD:7826,Active,Orphanet,ORPHA:3385,Disorder,[Disease],African trypanosomiasis,[Sleeping sickness],"A rare vector-borne parasitic disease caused by a protozoa of the Trypanosoma genus transmitted by the bite of a tsetse fly (genus Glossina), that is found under its chronic form (average duration of 3 years) in western and central Africa (in case of the T. brucei gambiense sub-species), and under its acute form (lasting from few weeks to 6 months) in eastern and southern Africa (in case of the T. brucei rhodesiense sub-species). HAT comprises an initial hemo-lymphatic stage characterized by fever, weakness, musculoskeletal pain, anemia, and lymphadenopathy, along with dermatologic, cardiac and endocrine complications or hepatosplenomegaly, followed by a meningo-encephalitic stage characterized by neurologic involvement (sleep disturbances, psychiatric disorders, seizures) that progresses, in the absence of treatment, towards a fatal meningoencephalitis.",,,,,,"Trypanosomiasis, Human East-African",TRUE,FALSE,Active +GARD:7827,Active,Orphanet,ORPHA:3389,Disorder,[Disease],Tuberculosis,,"Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.",[607948],,,,,Tuberculosis,TRUE,FALSE,Retired +GARD:7828,Active,Orphanet,ORPHA:499004,Disorder,[Disease],Tuberculous meningitis,"[TBM, Tubercular meningitis]","A rare bacterial infectious disease caused by Mycobacterium tuberculosis, characterized by a variable clinical picture comprising classic manifestations of meningitis, i. e. headache, fever, and stiff neck, in addition to cranial nerve palsies (most commonly III, VI, and VII), altered mental status, and seizures, among others. Basal meningeal enhancement in neuroimaging, cerebrospinal fluid abnormalities (moderate lymphocytic pleocytosis, moderately elevated protein concentration, low glucose), and a chest x-ray suggestive of pulmonary tuberculosis may support the diagnosis.",,,,,,Tuberculous meningitis,TRUE,FALSE,Active +GARD:7829,Legacy,GARD,,,,,,,,,,,,Tuberculous uveitis,TRUE,FALSE,Active +GARD:783,Legacy,GARD,,,,,,,,,,,,Arthrogryposis like disorder,TRUE,FALSE,Retired +GARD:7830,Active,Orphanet,ORPHA:805,Disorder,[Disease],Tuberous sclerosis complex,"[Bourneville syndrome, Tuberous sclerosis]","A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.","[191100, 613254]",,,,,Tuberous sclerosis complex,TRUE,FALSE,Active +GARD:7831,Active,Orphanet,ORPHA:881,Disorder,[Malformation syndrome],Turner syndrome,"[45,X syndrome, 45,X/46,XX syndrome]","A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities.",,,,,,Turner syndrome,TRUE,FALSE,Active +GARD:7833,Legacy,GARD,,,,,,,,,,,,Typhus,TRUE,FALSE,Active +GARD:7836,Legacy,GARD,,,,,,,,,,,,Urachal cancer,TRUE,FALSE,Active +GARD:7837,Active,Orphanet,ORPHA:79167,Group of disorders,[Category],Disorder of urea cycle metabolism and ammonia detoxification,,,,,,,,Urea cycle disorders,TRUE,FALSE,Active +GARD:784,Active,Orphanet,ORPHA:1144,Disorder,[Malformation syndrome],Arthrogryposis-like hand anomaly-sensorineural deafness syndrome,"[Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome, Distal arthrogryposis type 6]",A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.,[108200],,,,,Arthrogryposis-like hand anomaly and sensorineural deafness,TRUE,FALSE,Active +GARD:7842,Active,Orphanet,ORPHA:66646,Group of disorders,[Clinical group],Cutaneous mastocytosis,,"A rare group of mastocytosis diseases characterized by abnormal accumulation and proliferation of mast cells in the skin and including the three recognised forms: diffuse cutaneous mastocytosis, cutaneous mastocytoma and, the most common form, maculopapular cutaneous mastocytosis. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.",,,,,,Cutaneous mastocytosis,TRUE,FALSE,Active +GARD:7843,Active,Orphanet,ORPHA:886,Disorder,[Disease],Usher syndrome,"[Retinitis pigmentosa-deafness syndrome, Retinitis pigmentosa-hearing loss syndrome, USH]","A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction.","[602097, 614990, 500004, 602083, 611383, 612632, 614869, 276900, 606943, 276901, 276902, 276904, 605472, 601067, 614504]",,,,,Usher syndrome,TRUE,FALSE,Active +GARD:7845,Legacy,GARD,,,,,,,,,,,,Valinemia,TRUE,FALSE,Active +GARD:7846,Active,Orphanet+OMIM,OMIM:606713,Subtype of disorder,[Malformation syndrome subtype],Van der woude syndrome 2,,"Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome.\n\nFor a discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 ({119300}).",[606713],[888],[Van der Woude syndrome],[8414],,Van der Woude syndrome 2,TRUE,FALSE,Active +GARD:7848,Active,Orphanet,ORPHA:79473,Disorder,[Disease],Porphyria variegata,"[Protoporphyrinogen oxidase deficiency, Variegate porphyria]",Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.,[176200],,,,,Variegate porphyria,TRUE,FALSE,Active +GARD:785,Legacy,GARD,,,,,,,,,,,,Arthrogryposis multiplex congenita CNS calcification,TRUE,FALSE,Active +GARD:7851,Active,Orphanet,ORPHA:889,Disorder,[Disease],Cutaneous small vessel vasculitis,[Cutaneous hypersensitivity vasculitis],A small vessel vasculitis characterized by neutrophilic inflammation predominantly limited to the superficial cutaneous postcapillary venules and without systemic vasculitis or glomerulonephritis. Typical presentation is of unifocal or multifocal palpable purpura on the lower extremities.,,,,,,Hypersensitivity vasculitis,TRUE,FALSE,Active +GARD:7853,Legacy,GARD,,,,,,,,,,,,Ventricular septal defects,TRUE,FALSE,Active +GARD:7854,Active,Orphanet,ORPHA:70476,Disorder,[Disease],Vernal keratoconjunctivitis,[Spring catarrh],"A rare disorder of the anterior segment of the eye, characterized by a severe recurrent allergic reaction affecting the cornea and the conjunctiva. It presents with red eyes, ocular itching, photophobia, foreign body sensation, mucous discharge, blepharospasm, and blurring of vision. The symptoms are typically bilateral but may be asymmetric. Characteristic signs include conjunctival injection, giant papillae mostly on the upper tarsal conjunctiva (cobblestone appearance), limbal gelatinous infiltrates (Horner-Trantas dots), and variable corneal signs. The condition is more prevalent in hot climates and most commonly affects young boys.",,,,,,Vernal keratoconjunctivitis,TRUE,FALSE,Active +GARD:7855,Active,Orphanet,ORPHA:892,Disorder,[Disease],Von Hippel-Lindau disease,"[Familial cerebelloretinal angiomatosis, Lindau disease, VHL, Von Hippel-Lindau syndrome]","Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.",[193300],,,,,Von Hippel-Lindau disease,TRUE,FALSE,Active +GARD:7857,Active,Orphanet,ORPHA:158048,Disorder,[Particular clinical situation in a disease or syndrome],Hemophagocytic syndrome associated with an infection,"[IAHS, VAHS, Virus-associated hemophagocytic syndrome]",,,,,,,Virus associated hemophagocytic syndrome,TRUE,FALSE,Active +GARD:786,Active,Orphanet,ORPHA:97120,Group of disorders,[Clinical group],Distal arthrogryposis,,"A group of rare arthrogryposis syndromes characterized by congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.",,,,,,Distal arthrogryposis,TRUE,FALSE,Active +GARD:7860,Active,Orphanet,ORPHA:79445,Disorder,[Disease],Pseudopseudohypoparathyroidism,"[AHO-PPHP syndrome, Albright hereditary osteodystrophy-PPHP syndrome]","Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).",[612463],,,,,Pseudopseudohypoparathyroidism,TRUE,FALSE,Active +GARD:7862,Active,Orphanet,ORPHA:3437,Disorder,[Disease],Vogt-Koyanagi-Harada disease,[Uveomenigitic syndrome],"Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.",,,,,,Vogt-Koyanagi-Harada disease,TRUE,FALSE,Active +GARD:7864,Active,Orphanet,ORPHA:79258,Subtype of disorder,[Clinical subtype],Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,"[G6P deficiency type 1a, GSD due to G6P deficiency type 1a, GSD due to G6P deficiency type Ia, GSD type 1a, GSDIa, Glycogen storage disease due to G6P deficiency type Ia, Glycogen storage disease type 1a, Glycogenosis due to glucose-6-phosphatase deficiency type 1a, Glycogenosis due to glucose-6-phosphatase deficiency type Ia, Glycogenosis type Ia]","Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term).",[232200],,,,,Glycogen storage disease type 1A,TRUE,FALSE,Active +GARD:7866,Active,Orphanet,ORPHA:636,Disorder,[Disease],Neurofibromatosis type 1,"[NF1, Von Recklinghausen disease]","Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.","[162210, 162200, 613675]",,,,,Neurofibromatosis type 1,TRUE,FALSE,Active +GARD:7867,Active,Orphanet,ORPHA:903,Disorder,[Disease],Von Willebrand disease,[Hereditary von Willebrand disease],"A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2).","[314560, 277480, 613554, 193400]",,,,,Von Willebrand disease,FALSE,FALSE,Active +GARD:787,Active,Orphanet,ORPHA:1146,Disorder,[Malformation syndrome],Distal arthrogryposis type 1,"[DA1, Digitotalar dysmorphism]",A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.,"[619110, 108120, 618435, 614335, 126050]",,,,,Distal arthrogryposis type 1,TRUE,FALSE,Active +GARD:7871,Active,Orphanet,ORPHA:898,Disorder,[Disease],Wagner disease,"[Dominant hyaloideoretinal dystrophy of Wagner, VCAN-related vitreoretinopathy, Vitreoretinal degeneration, Wagner type, Wagner syndrome]","Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.",[143200],,,,,Wagner syndrome,TRUE,FALSE,Active +GARD:7872,Active,Orphanet,ORPHA:33226,Disorder,[Disease],Waldenström macroglobulinemia,,"Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.","[153600, 610430]",,,,,Waldenstrom macroglobulinemia,TRUE,FALSE,Active +GARD:7873,Active,Orphanet,ORPHA:90362,Disorder,[Disease],Primary intestinal lymphangiectasia,[Waldmann disease],"A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children.",[152800],,,,,Primary intestinal lymphangiectasia,TRUE,FALSE,Active +GARD:7875,Legacy,GARD,,,,,,,,,,,,Wallerian degeneration,TRUE,FALSE,Active +GARD:7876,Active,Orphanet,ORPHA:90033,Disorder,[Disease],"Autoimmune hemolytic anemia, warm type","[Warm AIHA, wAHA, wAIHA]",Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C).,,,,,,Warm antibody hemolytic anemia,TRUE,FALSE,Active +GARD:7877,Legacy,GARD,,,,,,,,,,,,Watermelon stomach,TRUE,FALSE,Active +GARD:7878,Active,Orphanet,ORPHA:3447,Disorder,[Malformation syndrome],Weaver syndrome,[Camptodactyly-overgrowth-unusual facies syndrome],"Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.","[617561, 277590, 618786]",,,,,Weaver syndrome,TRUE,FALSE,Active +GARD:7879,Active,Orphanet,ORPHA:33577,Disorder,[Disease],Nodular non-suppurative panniculitis,"[Idiopathic lobular panniculitis, Idiopathic nodular panniculitis, Pfeiffer-Weber-Christian syndrome, Relapsing febrile nodular nonsuppurative panniculitis, Relapsing febrile nodular panniculitis, WCD, Weber-Christian disease, Weber-Christian panniculitis]",A rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.,,,,,,Nodular nonsuppurative panniculitis,TRUE,FALSE,Active +GARD:788,Legacy,GARD,,,,,,,,,,,,Distal arthrogryposis type 2,TRUE,FALSE,Retired +GARD:7880,Active,Orphanet,ORPHA:900,Disorder,[Disease],Granulomatosis with polyangiitis,[GPA],"A rare anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis characterized by necrotizing inflammation of small and medium vessels (capillaries, venules and arterioles), resulting in tissue ischemia.",[608710],,,,,Granulomatosis with polyangiitis,TRUE,FALSE,Active +GARD:7881,Active,Orphanet,ORPHA:509,Disorder,[Disease],Leptospirosis,,Leptospirosis is an anthropozoonosis caused by spiral-shaped bacteria belonging to the genus Leptospira. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America.,,,,,,Leptospirosis,TRUE,FALSE,Active +GARD:7883,Active,Orphanet,ORPHA:83330,Subtype of disorder,[Clinical subtype],Proximal spinal muscular atrophy type 1,"[Infantile spinal muscular atrophy, Infantile-onset spinal muscular atrophy, SMA type 1, SMA type I, SMA-I, SMA1, Werdnig-Hoffmann disease]","A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of severe and progressive muscle weakness in the first 6 months of life and presenting with severe, generalized hypotonia and weakness,. Dysphagia and respiratory impairment may also be present at presentation or appear at a later stage. Classically, before the advent of recent therapies, type 1 patients never achieved sitting without support.",[253300],,,,,Spinal muscular atrophy 1,TRUE,FALSE,Active +GARD:7885,Active,Orphanet,ORPHA:902,Disorder,[Disease],Werner syndrome,"[Adult progeria, WS]","Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.",[277700],,,,,Werner syndrome,TRUE,FALSE,Active +GARD:7887,Active,Orphanet,ORPHA:3451,Disorder,[Clinical syndrome],Infantile spasms syndrome,[West syndrome],"A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome.","[616341, 613477, 618298, 615006, 308350, 617929, 617065, 613722, 616139, 300672]",,,,,West syndrome,TRUE,FALSE,Active +GARD:7888,Active,Orphanet,ORPHA:83593,Disorder,[Disease],Western equine encephalitis,[Western equine encephalomyelitis],"An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.",,,,,,Western equine encephalitis,TRUE,FALSE,Active +GARD:7889,Active,Orphanet,ORPHA:3452,Disorder,[Disease],Whipple disease,[Intestinal lipodystrophy],A rare chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (TW).,,,,,,Whipple disease,TRUE,FALSE,Active +GARD:7890,Active,Orphanet,ORPHA:3454,Disorder,[Malformation syndrome],Intellectual disability-developmental delay-contractures syndrome,"[Foot contractures-muscle atrophy-oculomotor apraxia syndrome, Wieacker-Wolff syndrome]","Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.",[314580],,,,,Intellectual disability-developmental delay-contractures syndrome,TRUE,FALSE,Active +GARD:7891,Active,Orphanet,ORPHA:904,Disorder,[Malformation syndrome],Williams syndrome,"[Deletion 7q11.23, Monosomy 7q11.23, Williams-Beuren syndrome]","A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia.",[194050],,,,,Williams syndrome,TRUE,FALSE,Active +GARD:7892,Active,Orphanet,ORPHA:654,Disorder,[Disease],Nephroblastoma,"[Renal embryonic tumor, Wilms tumor]","A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.","[194070, 601583, 194071, 616806, 194090, 601363]",,,,,Wilms' tumor,TRUE,FALSE,Active +GARD:7893,Active,Orphanet,ORPHA:905,Disorder,[Disease],Wilson disease,[Hepatolenticular degeneration],"A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body.",[277900],,,,,Wilson disease,TRUE,FALSE,Active +GARD:7894,Active,Orphanet+OMIM,OMIM:277950,Subtype of disorder,[Disease subtype],Winchester syndrome,,"Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; {259600}), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by {12:Zankl et al., 2007}).",[277950],[371428],[Multicentric osteolysis-nodulosis-arthropathy spectrum],[17610],,Winchester syndrome,TRUE,FALSE,Active +GARD:7895,Active,Orphanet,ORPHA:906,Disorder,[Disease],Wiskott-Aldrich syndrome,"[Eczema-thrombocytopenia-immunodeficiency syndrome, WAS]","A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.","[614493, 301000, 600903]",,,,,Wiskott Aldrich syndrome,TRUE,FALSE,Active +GARD:7896,Active,Orphanet,ORPHA:280,Disorder,[Malformation syndrome],Wolf-Hirschhorn syndrome,"[4p- syndrome, Distal deletion 4p, Distal monosomy 4p, Telomeric deletion 4p]","A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.",[194190],,,,,Wolf-Hirschhorn syndrome,TRUE,FALSE,Active +GARD:7897,Legacy,GARD,,,,,,,,,,,,Wolff-Parkinson-White syndrome,FALSE,FALSE,Active +GARD:7898,Active,Orphanet,ORPHA:3463,Disorder,[Disease],Wolfram syndrome,"[DIDMOAD syndrome, Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome, Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome]","A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.","[598500, 222300, 604928]",,,,,Wolfram syndrome,TRUE,FALSE,Active +GARD:7899,Active,Orphanet,ORPHA:75233,Subtype of disorder,[Clinical subtype],Wolman disease,,"A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting.",[278000],,,,,Wolman disease,TRUE,FALSE,Active +GARD:79,Active,Orphanet,ORPHA:33067,Disorder,[Disease],"Metaphyseal chondrodysplasia, Jansen type",,"A rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.",[156400],,,,,Jansen type metaphyseal chondrodysplasia,TRUE,FALSE,Active +GARD:790,Active,Orphanet,ORPHA:1143,Disorder,[Disease],Neurogenic arthrogryposis multiplex congenita,,A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.,[208100],,,,,Arthrogryposis multiplex congenita neurogenic type,TRUE,FALSE,Active +GARD:7900,Active,Orphanet,ORPHA:53719,Disorder,[Malformation syndrome],Wyburn-Mason syndrome,"[Bonnet-Dechaume-Blanc syndrome, CAMS2, Cerebrofacial arteriovenous metameric syndrome type 2]","Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.",,,,,,Wyburn-Mason syndrome,TRUE,FALSE,Active +GARD:7904,Active,Orphanet,ORPHA:461,Disorder,[Disease],Recessive X-linked ichthyosis,"[RXLI, Steroid sulfatase deficiency, X-linked ichthyosis, XLI]",Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.,"[300001, 308100]",,,,,X-linked ichthyosis,TRUE,FALSE,Active +GARD:7906,Active,Orphanet,ORPHA:538931,Disorder,[Disease],X-linked lymphoproliferative disease due to SH2D1A deficiency,"[SAP deficiency, SH2D1A/SLAM-associated protein deficiency, X-linked lymphoproliferative syndrome type 1, XLP1]","A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.",[308240],,,,,X-linked lymphoproliferative disease due to SH2D1A deficiency,TRUE,FALSE,Active +GARD:791,Legacy,GARD,,,,,,,,,,,,Arthrogryposis multiplex congenita pulmonary hypoplasia,TRUE,FALSE,Active +GARD:7910,Active,Orphanet,ORPHA:910,Disorder,[Disease],Xeroderma pigmentosum,,"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).","[278720, 278700, 278740, 610651, 278780, 278730, 278760]",,,,,Xeroderma pigmentosum,TRUE,FALSE,Active +GARD:7913,Legacy,GARD,,,,,,,,,,,,Yaws,TRUE,FALSE,Active +GARD:7914,Active,Orphanet,ORPHA:99829,Disorder,[Disease],Yellow fever,"[Bronze John, YF, Yellow Jack]","Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.",,,,,,Yellow fever,TRUE,FALSE,Active +GARD:7917,Active,Orphanet,ORPHA:912,Disorder,[Disease],Zellweger syndrome,"[Cerebrohepatorenal syndrome, Severe PBD-ZSD, Severe peroxisome biogenesis disorder-Zellweger spectrum disorder, ZS]","A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.","[614870, 614882, 614886, 214100, 614872, 614887, 214110, 617370, 614876, 614883, 614862, 614859, 614866]",,,,,Zellweger syndrome,TRUE,FALSE,Active +GARD:7918,Active,Orphanet,ORPHA:913,Disorder,[Disease],Zollinger-Ellison syndrome,[Gastrinoma],Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.,,,,,,Zollinger-Ellison syndrome,TRUE,FALSE,Active +GARD:7919,Legacy,GARD,,,,,,,,,,,,Zuska's disease,TRUE,FALSE,Active +GARD:792,Active,Orphanet,ORPHA:1150,Disorder,[Malformation syndrome],Arthrogryposis multiplex congenita-whistling face syndrome,[Illum syndrome],"An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.",[208155],,,,,Arthrogryposis multiplex congenita whistling face,TRUE,FALSE,Active +GARD:7922,Active,Orphanet,ORPHA:98473,Group of disorders,[Category],Muscular dystrophy,,,,,,,,Muscular dystrophy,TRUE,FALSE,Active +GARD:794,Active,Orphanet,ORPHA:2697,Disorder,[Malformation syndrome],Arthrogryposis-renal dysfunction-cholestasis syndrome,[ARC syndrome],"A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.","[613404, 208085]",,,,,Arthrogryposis renal dysfunction cholestasis syndrome,TRUE,FALSE,Active +GARD:795,Legacy,GARD,,,,,,,,,,,,Arthrogryposis spinal muscular atrophy,TRUE,FALSE,Active +GARD:799,Legacy,GARD,,,,,,,,,,,,Ataxia telangiectasia variant V1,TRUE,FALSE,Retired +GARD:8,Legacy,GARD,,,,,,,,,,,,Agnosia,TRUE,FALSE,Active +GARD:80,Active,Orphanet,ORPHA:2315,Disorder,[Malformation syndrome],Johanson-Blizzard syndrome,[JBS],"Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.",[243800],,,,,Johanson-Blizzard syndrome,TRUE,FALSE,Active +GARD:801,Legacy,GARD,,,,,,,,,,,,Idiopathic double athetosis,TRUE,FALSE,Retired +GARD:802,Active,Orphanet,ORPHA:98722,Group of disorders,[Clinical group],Atrioventricular septal defect,"[AVSD, Atrioventricular canal defect]",,"[600309, 606215, 614430, 615779, 614474, 606217]",,,,,Atrioventricular septal defect,TRUE,FALSE,Active +GARD:804,Active,Orphanet,ORPHA:52,Disorder,[Malformation syndrome],Alagille syndrome,"[Alagille-Watson syndrome, Arteriohepatic dysplasia, Syndromic bile duct paucity]","A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.","[118450, 610205]",,,,,Alagille syndrome,TRUE,FALSE,Active +GARD:805,Legacy,GARD,,,,,,,,,,,,Brainstem auditory evoked responses,FALSE,FALSE,Retired +GARD:806,Active,Orphanet,ORPHA:2819,Disorder,[Malformation syndrome],Spastic paraplegia-facial-cutaneous lesions syndrome,[Bahemuka-Brown syndrome],A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.,,,,,,Spastic paraplegia facial cutaneous lesions,TRUE,FALSE,Active +GARD:807,Legacy,GARD,,,,,,,,,,,,BANF acoustic neurinoma,TRUE,FALSE,Retired +GARD:808,Legacy,GARD,,,,,,,,,,,,Baker Vinters syndrome,TRUE,FALSE,Active +GARD:809,Active,Orphanet,ORPHA:1223,Disorder,[Disease],Balantidiasis,"[Balantidiosis, Ciliary dysentery]","Balantidiasis is an infectious disease, rare in western countries. It is caused by Balantidium coli, a single celled parasite (ciliate protozoan) that is usually associated with intestinal infection in areas associated with pig rearing. It infects humans occasionally, mostly immunocompromised patients. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of other infections that cause intestinal inflammation, for example, amoebic dysentery. On very rare occasions this bacterium may invade extra-intestinal organs, mostly the lungs. Metronidazole is the treatment of choice.",,,,,,Balantidiasis,TRUE,FALSE,Active +GARD:81,Active,Orphanet+OMIM,OMIM:309590,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, x-linked, syndromic, turner type","[mental retardation and macrocephaly syndrome, mental retardation, x-linked, with growth retardation, deafness, and microgenitalism, juberg-marsidi syndrome, mental retardation, x-linked, syndromic, brooks-wisniewski-brown type, Mental retardation, x-linked, syndromic, turner type, brooks-wisniewski-brown syndrome]","Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a neurodevelopmental disorder with a highly variable phenotype. Some affected families show X-linked recessive inheritance, with only males being affected and carrier females having no abnormal findings. In other affected families, males are severely affected, and female mutation carriers show milder cognitive abnormalities or dysmorphic features. In addition, there are female patients with de novo mutations who show the full phenotype, despite skewed X-chromosome inactivation. Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by {8:Moortgat et al., 2018}).",[309590],[528084],[Non-specific syndromic intellectual disability],[17965],,Juberg Marsidi syndrome,TRUE,FALSE,Active +GARD:811,Legacy,GARD,,,,,,,,,,,,Balo disease,FALSE,FALSE,Retired +GARD:812,Active,Orphanet,ORPHA:1227,Disorder,[Malformation syndrome],Bangstad syndrome,[Ataxia-diabetes-goiter-gonadal insufficiency syndrome],"Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.",[210740],,,,,Bangstad syndrome,TRUE,FALSE,Active +GARD:813,Active,Orphanet,ORPHA:1228,Disorder,[Malformation syndrome],Banki syndrome,,"Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.",[109300],,,,,Banki syndrome,TRUE,FALSE,Active +GARD:815,Legacy,GARD,,,,,,,,,,,,Baraitser Brett Piesowicz syndrome,TRUE,FALSE,Retired +GARD:8155,Legacy,GARD,,,,,,,,,,,,4-hydroxyphenylacetic aciduria,TRUE,FALSE,Active +GARD:8156,Legacy,GARD,,,,,,,,,,,,Adenomyosis,FALSE,FALSE,Active +GARD:8157,Legacy,GARD,,,,,,,,,,,,Anthrax,TRUE,FALSE,Active +GARD:8158,Legacy,GARD,,,,,,,,,,,,Cutaneous anthrax,TRUE,FALSE,Active +GARD:816,Active,Orphanet,ORPHA:2753,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 4,"[Baraitser-Burn syndrome, Mohr-Majewski syndrome, OFD4, Oral-facial-digital syndrome type 4]","Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.",[258860],,,,,Orofaciodigital syndrome 4,TRUE,FALSE,Active +GARD:8160,Legacy,GARD,,,,,,,,,,,,Hutchinson incisors,TRUE,FALSE,Active +GARD:8162,Legacy,GARD,,,,,,,,,,,,Myxozoa,TRUE,FALSE,Active +GARD:8165,Legacy,GARD,,,,,,,,,,,,Megalocytic interstitial nephritis,TRUE,FALSE,Active +GARD:8167,Legacy,GARD,,,,,,,,,,,,Palmoplantar keratoderma,TRUE,FALSE,Active +GARD:8168,Legacy,GARD,,,,,,,,,,,,Pontoneocerebellar Hypoplasia,TRUE,FALSE,Retired +GARD:8169,Active,Orphanet,ORPHA:238593,Subtype of disorder,[Clinical subtype],IgG4-related mesenteritis,"[Isolated mesenteric lipodystrophy, Lipomatous mesenteritis, Liposclerotic mesenteritis, Mesenteric lipogranuloma, Mesenteric panniculitis, Sclerosing mesenteritis]","Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).",,,,,,Sclerosing mesenteritis,TRUE,FALSE,Active +GARD:817,Legacy,GARD,,,,,,,,,,,,Baraitser Rodeck Garner syndrome,TRUE,FALSE,Retired +GARD:8170,Legacy,GARD,,,,,,,,,,,,Severe infantile axonal neuropathy,TRUE,FALSE,Active +GARD:8171,Legacy,GARD,,,,,,,,,,,,Candida glabrata,TRUE,FALSE,Active +GARD:8172,Legacy,GARD,,,,,,,,,,,,Transient global amnesia,TRUE,FALSE,Active +GARD:8173,Active,Orphanet,ORPHA:15,Disorder,[Disease],Achondroplasia,,"A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.",[100800],,,,,Achondroplasia,TRUE,FALSE,Active +GARD:8174,Active,Orphanet,ORPHA:1547,Disorder,[Malformation syndrome],Cryptomicrotia-brachydactyly-excess fingertip arch syndrome,"[Cryptomicrotia-brachydactyly syndrome, Tonoki-Ohura-Niikawa syndrome]","A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.",[123560],,,,,Cryptomicrotia brachydactyly syndrome,TRUE,FALSE,Active +GARD:8176,Legacy,GARD,,,,,,,,,,,,Achard syndrome,TRUE,FALSE,Active +GARD:8177,Legacy,GARD,,,,,,,,,,,,Basedow's coma,TRUE,FALSE,Active +GARD:8178,Active,Orphanet+OMIM,OMIM:604379,Subtype of disorder,[Disease subtype],Hypotrichosis 7,"[hypotrichosis, autosomal recessive, hypotrichosis, total, mari type, Hypotrichosis, localized, autosomal recessive 2]",,[604379],"[170, 55654]","[Hypotrichosis simplex, Woolly hair]","[9170, 5597]",,"Total Hypotrichosis, Mari type",TRUE,FALSE,Active +GARD:8180,Legacy,GARD,,,,,,,,,,,,Punctate porokeratosis,TRUE,FALSE,Active +GARD:8182,Active,Orphanet,ORPHA:3250,Disorder,[Malformation syndrome],Proximal symphalangism,"[Symphalangism, Cushing type]","Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.","[185800, 615298]",,,,,Proximal symphalangism,TRUE,FALSE,Active +GARD:8184,Legacy,GARD,,,,,,,,,,,,"Ossicular Malformations, familial",TRUE,FALSE,Active +GARD:8189,Active,Orphanet,ORPHA:2445,Group of disorders,[Category],Conotruncal heart malformations,,"A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).",[217095],,,,,Conotruncal heart malformations,TRUE,FALSE,Active +GARD:819,Active,Orphanet,ORPHA:1231,Disorder,[Malformation syndrome],Barber-Say syndrome,[Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome],"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.",[209885],,,,,Barber Say syndrome,TRUE,FALSE,Active +GARD:8192,Legacy,GARD,,,,,,,,,,,,Uveal diseases,TRUE,FALSE,Active +GARD:8194,Active,Orphanet,ORPHA:1560,Disorder,[Disease],Cysticercosis,,"Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.",,,,,,Cysticercosis,TRUE,FALSE,Active +GARD:8195,Active,Orphanet,ORPHA:76,Disorder,[Disease],Strongyloidiasis,"[Anguilluliasis, Anguillulosis]",A parasitosis caused by the intestinal nematode Strongyloides stercoralis (round worm).,,,,,,Strongyloidiasis,TRUE,FALSE,Active +GARD:8196,Legacy,GARD,,,,,,,,,,,,Spirurida Infections,TRUE,FALSE,Active +GARD:8197,Active,Orphanet,ORPHA:819,Disorder,[Malformation syndrome],Smith-Magenis syndrome,[17p11.2 microdeletion syndrome],"A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal).",[182290],,,,,Smith-Magenis syndrome,TRUE,FALSE,Active +GARD:8198,Active,Orphanet,ORPHA:39041,Disorder,[Disease],Omenn syndrome,[Combined immunodeficiency with hypereosinophilia],"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).",[603554],,,,,Omenn syndrome,TRUE,FALSE,Active +GARD:8199,Legacy,GARD,,,,,,,,,,,,"Acute myeloid leukemia, childhood",TRUE,FALSE,Retired +GARD:82,Active,Orphanet,ORPHA:2332,Disorder,[Malformation syndrome],KBG syndrome,[Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome],"A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities.",[148050],,,,,KBG syndrome,TRUE,FALSE,Active +GARD:820,Active,Orphanet+OMIM,OMIM:209900,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 1,,"Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by {5:Beales et al., 1999}). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by {52:Scheidecker et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Bardet-Biedl Syndrome\n\nBBS1 is caused by mutation in a gene on chromosome 11q13 ({209901}); BBS2 ({615981}), by mutation in a gene on 16q13 ({606151}); BBS3 ({600151}), by mutation in the ARL6 gene on 3q11 ({608845}); BBS4 ({615982}), by mutation in a gene on 15q22 ({600374}); BBS5 ({615983}), by mutation in a gene on 2q31 ({603650}); BBS6 ({605231}), by mutation in the MKKS gene on 20p12 ({604896}); BBS7 ({615984}), by mutation in a gene on 4q27 ({607590}); BBS8 ({615985}), by mutation in the TTC8 gene on 14q32 ({608132}); BBS9 ({615986}), by mutation in a gene on 7p14 ({607968}); BBS10 ({615987}), by mutation in a gene on 12q21 ({610148}); BBS11 ({615988}), by mutation in the TRIM32 gene on 9q33 ({602290}); BBS12 ({615989}), by mutation in a gene on 4q27 ({610683}); BBS13 ({615990}), by mutation in the MKS1 gene ({609883}) on 17q23; BBS14 ({615991}), by mutation in the CEP290 gene ({610142}) on 12q21, BBS15 ({615992}), by mutation in the WDPCP gene ({613580}) on 2p15; BBS16 ({615993}), by mutation in the SDCCAG8 gene ({613524}) on 1q43; BBS17 ({615994}), by mutation in the LZTFL1 gene ({606568}) on 3p21; BBS18 ({615995}), by mutation in the BBIP1 gene ({613605}) on 10q25; BBS19 ({615996}), by mutation in the IFT27 gene ({615870}) on 22q12; BBS20 ({619471}), by mutation in the IFT172 gene ({607386}) on 9p21; BBS21 ({617406}), by mutation in the CFAP418 gene ({614477}) on 8q22; and BBS22 ({617119}), by mutation in the IFT74 gene ({608040}) on 9p21.\n\nThe CCDC28B gene ({610162}) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; {609884}), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.\n\nAlthough BBS had originally been thought to be a recessive disorder, {33:Katsanis et al. (2001)} demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While {33:Katsanis et al. (2001)} called this 'triallelic inheritance,' {10:Burghes et al. (2001)} suggested the term 'recessive inheritance with a modifier of penetrance.' {47:Mykytyn et al. (2002)} found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, {21:Fan et al. (2004)} found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).\n\nAllelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 ({613464}), caused by TTC8 mutation, and RP55 ({613575}), caused by ARL6 mutation.",[209900],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 1,TRUE,FALSE,Active +GARD:8200,Legacy,GARD,,,,,,,,,,,,Secernentea Infections,TRUE,FALSE,Active +GARD:8203,Legacy,GARD,,,,,,,,,,,,Rhabditida Infections,TRUE,FALSE,Active +GARD:8204,Active,Orphanet,ORPHA:761,Disorder,[Disease],Immunoglobulin A vasculitis,"[Anaphylactoid purpura, Henoch-Schönlein purpura, IgA vasculitis, Purpura rheumatica, Rheumatoid purpura]","A rare, small-vessel vasculitis characterized by skin purpura, arthritis, abdominal and/or renal involvement, IgA tissue deposits (arterioles, capillaries, and venules) and circulating IgA immune complexes.",,,,,,Henoch-Schonlein purpura,TRUE,FALSE,Active +GARD:8206,Active,Orphanet,ORPHA:1023,Subtype of disorder,[Clinical subtype],"Congenital generalized hypertrichosis, Ambras type",[Ambras syndrome],"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.",[145701],,,,,Ambras syndrome,TRUE,FALSE,Active +GARD:8207,Active,Orphanet,ORPHA:251912,Disorder,[Disease],Pineocytoma,,"Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.",,,,,,Pineocytoma,TRUE,FALSE,Active +GARD:8208,Active,Orphanet,ORPHA:289326,Disorder,[Disease],Tropical spastic paraparesis,"[HAM/TSP, HTLV-1-associated myelopathy/tropical spastic paraparesis, Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis, Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis, TSP]","Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.",[159580],,,,,HTLV-1 associated myelopathy/tropical spastic paraparesis,TRUE,FALSE,Active +GARD:821,Active,Orphanet+OMIM,OMIM:615981,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 2,,"BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment ({4:Innes et al., 2010}). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases ({11:Zaghloul and Katsanis, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615981],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 2,TRUE,FALSE,Active +GARD:8211,Legacy,GARD,,,,,,,,,,,,Neurofibrosarcoma,TRUE,FALSE,Active +GARD:8214,Active,Orphanet,ORPHA:501,Disorder,[Disease],Lafora disease,"[EPM2, PME type 2, Progressive myoclonic epilepsy type 2, Progressive myoclonus epilepsy type 2]","A rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.",[254780],,,,,Lafora disease,TRUE,FALSE,Active +GARD:8215,Legacy,GARD,,,,,,,,,,,,Mondini dysplasia,TRUE,FALSE,Active +GARD:8216,Active,Orphanet,ORPHA:2459,Disorder,[Disease],Mansonelliasis,[Mansonellosis],"A form of filariasis, distributed throughout sub-Saharan Africa as well as in some locations of Central and South America and the Caribbean, caused by the parasitic worms Mansonella perstans and Mansonella ozzardi. The disease is often asymptomatic but may also cause fever, vertigo, myalgias, arthralgias and a sensation of coldness in the legs. Additional features include neuropsychiatric symptoms, skin rash, pruritus, nodules containing adult worms (in the conjunctiva or eyelids), lymphadenopathy, recurrent lymphedema in the limbs and face (resembling the Calabar swellings of loasis), severe abdominal pain and endocrine disturbances.",,,,,,Mansonelliasis,TRUE,FALSE,Active +GARD:8217,Legacy,GARD,,,,,,,,,,,,"Lymphoma, small cleaved-cell, follicular",TRUE,FALSE,Retired +GARD:8218,Legacy,GARD,,,,,,,,,,,,"Lymphoma, small cleaved-cell, diffuse",TRUE,FALSE,Retired +GARD:8219,Legacy,GARD,,,,,,,,,,,,"Lymphoma, large-cell, immunoblastic",TRUE,FALSE,Active +GARD:822,Active,Orphanet+OMIM,OMIM:600151,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 3,,"BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise ({8:Young et al., 1998}; {5:Ghadami et al., 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[600151],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 3,TRUE,FALSE,Active +GARD:8220,Legacy,GARD,,,,,,,,,,,,"Lymphoma, large-cell",TRUE,FALSE,Retired +GARD:8221,Legacy,GARD,,,,,,,,,,,,Lymphoma AIDS related,TRUE,FALSE,Active +GARD:8223,Active,Orphanet,ORPHA:86852,Disorder,[Disease],B-cell prolymphocytic leukemia,[B-PLL],"A rare mature B-cell neoplasm characterized by clonal proliferation of B-cell prolymphocytes, with prolymphocytes constituting more than 55% of lymphoid cells in peripheral blood. IG genes are clonally rearranged. Neoplastic cells are present in the bone marrow, peripheral blood, and spleen. Patients usually present with B symptoms, massive splenomegaly but absent or minimal lymphadenopathy, rapidly increasing lymphocyte count, anemia, and thrombocytopenia. Therapy response is poor.",,,,,,B cell prolymphocytic leukemia,TRUE,FALSE,Active +GARD:8224,Legacy,GARD,,,,,,,,,,,,"Leukemia, T-cell, chronic",TRUE,FALSE,Active +GARD:8225,Active,Orphanet,ORPHA:98823,Disorder,[Disease],Chronic myelomonocytic leukemia,[CMML],"A rare myelodysplastic/myeloproliferative neoplasm characterized by a spectrum of clinical, hematological, and morphological features, ranging from predominantly myelodysplastic to mainly myeloproliferative in nature. Infiltration of the liver, spleen, lymph nodes, and other organs is common. Persistent peripheral blood monocytosis with monocytes accounting for more than 10% of leukocytes is the hallmark of the condition. Blasts constitute less than 20% of the cells in the peripheral blood and bone marrow. Other abnormalities are variable. Patients may present with constitutional symptoms, signs and symptoms of hematopoietic insufficiency, and hepatosplenomegaly. The disease is associated with a risk of transformation to acute myeloid leukemia.",,,,,,Chronic myelomonocytic leukemia,TRUE,FALSE,Active +GARD:8226,Legacy,GARD,,,,,,,,,,,,Myeloid leukemia,TRUE,FALSE,Active +GARD:8227,Legacy,GARD,,,,,,,,,,,,"Leukemia, B-cell, chronic",TRUE,FALSE,Retired +GARD:8229,Legacy,GARD,,,,,,,,,,,,Portal hypertension,FALSE,FALSE,Active +GARD:823,Active,Orphanet+OMIM,OMIM:615982,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 4,,"BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS ({4:Katsanis et al., 2002}). Anosmia has been described in patients with BBS4 ({3:Iannaccone et al., 2005}), as well as polydactyly confined to the hands ({1:Carmi et al., 1995}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615982],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 4,TRUE,FALSE,Active +GARD:8230,Legacy,GARD,,,,,,,,,,,,Homocysteinemia,TRUE,FALSE,Active +GARD:8231,Active,Orphanet,ORPHA:157987,Group of disorders,[Clinical group],Non-Langerhans cell histiocytosis,,,,,,,,Non-Langerhans-Cell Histiocytosis,TRUE,FALSE,Active +GARD:8232,Active,Orphanet,ORPHA:252054,Disorder,[Disease],Hemangioblastoma,,"Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL; see this term). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.",,,,,,Hemangioblastoma,TRUE,FALSE,Active +GARD:8233,Active,Orphanet,ORPHA:355,Disorder,[Disease],Gaucher disease,"[Acid beta-glucosidase deficiency, Glucocerebrosidase deficiency]","Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).","[230900, 231005, 230800, 610539, 608013, 231000]",,,,,Gaucher disease,TRUE,FALSE,Active +GARD:8234,Active,Orphanet,ORPHA:47612,Disorder,[Disease],Felty syndrome,[Splenomegaly-neutropenia-rheumatoid arthritis syndrome],"Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.",[134750],,,,,Felty's syndrome,TRUE,FALSE,Active +GARD:8235,Legacy,GARD,,,,,,,,,,,,Esotropia,TRUE,FALSE,Active +GARD:8236,Legacy,GARD,,,,,,,,,,,,Drug induced dyskinesia,FALSE,FALSE,Active +GARD:8238,Active,Orphanet,ORPHA:251899,Disorder,[Disease],Choroid plexus carcinoma,,"Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.",[260500],,,,,Choroid plexus carcinoma,TRUE,FALSE,Active +GARD:824,Active,Orphanet,ORPHA:572,Disorder,[Disease],Immunodeficiency by defective expression of MHC class II,"[Bare lymphocyte syndrome type 2, MHC class II deficiency]","A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.",[209920],,,,,Bare lymphocyte syndrome 2,TRUE,FALSE,Active +GARD:8240,Active,Orphanet+OMIM,OMIM:145300,Subtype of disorder,[Disease subtype],"Hypersensitivity pneumonitis, familial",,"From Australia, {1:Allen et al. (1975)} described 2 families in each of which the father had hypersensitivity pneumonitis due to exposure to avian antigens. Two sons in 1 family and 2 sons and a daughter in a second family were similarly affected. Both families kept pigeons and budgerigars. HLA typing to detect possible linkage to immune response gene(s) ({146880}) seemed inconclusive. The possibility that hexachlorobenzene, used by both families for eradication of mites, might have damaged the bronchial mucosa or acted as an immunologic adjuvant was considered.",[145300],[99908],[Pigeon-breeder lung disease],[16924],,Familial hypersensitivity pneumonitis,TRUE,FALSE,Retired +GARD:8241,Active,Orphanet,ORPHA:158029,Disorder,[Disease],Sea-blue histiocytosis,,,[269600],,,,,Sea-Blue histiocytosis,TRUE,FALSE,Active +GARD:8242,Legacy,GARD,,,,,,,,,,,,5-Nucleotidase syndrome,TRUE,FALSE,Active +GARD:8244,Legacy,GARD,,,,,,,,,,,,Brain stem cancer,TRUE,FALSE,Active +GARD:8246,Legacy,GARD,,,,,,,,,,,,Auditory processing disorder,FALSE,FALSE,Draft +GARD:8249,Active,Orphanet,ORPHA:75564,Disorder,[Disease],Acquired idiopathic sideroblastic anemia,"[AISA, Primary acquired sideroblastic anemia, RARS, Refractory anemia with ringed sideroblasts]","A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.",,,,,,Sideroblastic anemia pyridoxine-refractory autosomal recessive,TRUE,FALSE,Active +GARD:825,Legacy,GARD,,,,,,,,,,,,Barnicoat Baraitser syndrome,TRUE,FALSE,Active +GARD:8250,Legacy,GARD,,,,,,,,,,,,AIDS Dementia Complex,TRUE,FALSE,Active +GARD:8252,Legacy,GARD,,,,,,,,,,,,Hyperadrenalism,TRUE,FALSE,Active +GARD:8254,Active,Orphanet,ORPHA:319266,Disorder,[Disease],Omsk hemorrhagic fever,,"Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.",,,,,,Omsk hemorrhagic fever,TRUE,FALSE,Active +GARD:8257,Active,Orphanet,ORPHA:319254,Disorder,[Disease],Kyasanur forest disease,"[Kyasanur hemorrhagic fever, Monkey disease, Monkey fever]","A rare infectious disease caused by the kyasanura forest disease virus and clinically characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.",,,,,,Kyasanur Forest disease,TRUE,FALSE,Active +GARD:8258,Legacy,GARD,,,,,,,,,,,,Mediastinal endodermal sinus tumors,TRUE,FALSE,Active +GARD:8259,Active,Orphanet,ORPHA:54028,Disorder,[Disease],Plummer-Vinson syndrome,"[Kelly-Paterson syndrome, Sideropenic dysphagia]","Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.",,,,,,Plummer Vinson syndrome,TRUE,FALSE,Active +GARD:826,Active,Orphanet,ORPHA:1826,Disorder,[Disease],Frontometaphyseal dysplasia,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.","[305620, 617137]",,,,,Frontometaphyseal dysplasia,TRUE,FALSE,Active +GARD:8265,Legacy,GARD,,,,,,,,,,,,Arakawa's syndrome 2,TRUE,FALSE,Retired +GARD:8267,Legacy,GARD,,,,,,,,,,,,Morel's ear,TRUE,FALSE,Retired +GARD:8270,Active,Orphanet,ORPHA:2349,Disorder,[Disease],Muscular pseudohypertrophy-hypothyroidism syndrome,"[Hoffmann syndrome, Kocher-Debré-Semelaigne syndrome]","Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term).",,,,,,Kocher-Debre-Semelaigne syndrome,TRUE,FALSE,Active +GARD:8273,Legacy,GARD,,,,,,,,,,,,Mutagen sensitivity,TRUE,FALSE,Active +GARD:8275,Active,Orphanet,ORPHA:50943,Disorder,[Disease],Keratolytic winter erythema,"[Erythrokeratolysis hiemalis, Oudtshoorn disease]","Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.",[148370],,,,,Keratolytic winter erythema,TRUE,FALSE,Active +GARD:8276,Legacy,GARD,,,,,,,,,,,,De Sanctis-Cacchione syndrome,TRUE,FALSE,Active +GARD:8278,Legacy,GARD,,,,,,,,,,,,"Cataract, congenital, with microcornea or slight microphthalmia",TRUE,FALSE,Active +GARD:8280,Legacy,GARD,,,,,,,,,,,,Dupuytren subungual exostosis,TRUE,FALSE,Active +GARD:8282,Active,Orphanet,ORPHA:85450,Disorder,[Disease],Hereditary amyloidosis with primary renal involvement,"[Amyloidosis, Ostertag type, Familial amyloid nephropathy, Familial renal amyloidosis, Hereditary amyloid nephropathy, Hereditary renal amyloidosis]","A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.",[105200],,,,,Amyloidosis familial visceral,TRUE,FALSE,Active +GARD:8283,Active,Orphanet+OMIM,OMIM:606129,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 2,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {2:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[606129],[124],[Blackfan-Diamond anemia],[6274],,Diamond-Blackfan anemia 2,TRUE,FALSE,Active +GARD:8291,Legacy,GARD,,,,,,,,,,,,Egg shaped pupils,TRUE,FALSE,Active +GARD:8295,Active,Orphanet,ORPHA:1460,Disorder,[Disease],Isolated complex III deficiency,"[Isolated CoQ-cytochrome C reductase deficiency, Isolated coenzyme Q-cytochrome C reductase deficiency, Isolated mitochondrial respiratory chain complex III deficiency, Isolated ubiquinone-cytochrome C reductase deficiency]","Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).","[615160, 615157, 124000, 616111, 615158, 615159, 615838, 615453, 615824, 618775]",,,,,Mitochondrial complex III deficiency,TRUE,FALSE,Active +GARD:83,Active,Orphanet,ORPHA:93325,Subtype of disorder,[Etiological subtype],Autosomal dominant Kenny-Caffey syndrome,,"A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal.",[127000],,,,,Kenny-Caffey syndrome type 2,TRUE,FALSE,Active +GARD:830,Legacy,GARD,,,,,,,,,,,,Bartter syndrome antenatal type 1,TRUE,FALSE,Active +GARD:8309,Active,Orphanet,ORPHA:988,Disorder,[Malformation syndrome],Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,"[Absent tibia-polydactyly syndrome, Werner mesomelic spectrum]","Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.",[188740],,,,,Absence of tibia with polydactyly,TRUE,FALSE,Active +GARD:831,Legacy,GARD,,,,,,,,,,,,Basal cell nevus anodontia abnormal bone mineralization,TRUE,FALSE,Retired +GARD:8310,Active,Orphanet,ORPHA:273,Disorder,[Disease],Steinert myotonic dystrophy,"[Myotonic dystrophy type 1, Steinert disease]","A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.",[160900],,,,,Myotonic dystrophy type 1,TRUE,FALSE,Active +GARD:8311,Legacy,GARD,,,,,,,,,,,,"Cardiomyopathy, fatal fetal, due to myocardial calcification",TRUE,FALSE,Active +GARD:8312,Active,Orphanet,ORPHA:52530,Disorder,[Disease],Pseudo-von Willebrand disease,"[PT-VWD, Platelet type-von Willebrand disease, Pseudo-von Willebrand disease type 2B]","A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.",[177820],,,,,Pseudo-Von Willebrand disease,TRUE,FALSE,Active +GARD:8313,Legacy,GARD,,,,,,,,,,,,Angiomyomatous Hamartoma,TRUE,FALSE,Active +GARD:8317,Active,Orphanet,ORPHA:98289,Group of disorders,[Category],Dendritic cell tumor,,,,,,,,Dendritic cell tumor,TRUE,FALSE,Active +GARD:8320,Legacy,GARD,,,,,,,,,,,,Mosaic monosomy 22,TRUE,FALSE,Active +GARD:8322,Legacy,GARD,,,,,,,,,,,,Diabetic mastopathy,TRUE,FALSE,Active +GARD:8324,Legacy,GARD,,,,,,,,,,,,Swyer-James syndrome,TRUE,FALSE,Active +GARD:8325,Legacy,GARD,,,,,,,,,,,,Trisomy 11 mosaicism,TRUE,FALSE,Active +GARD:8326,Legacy,GARD,,,,,,,,,,,,Yusho Disease,TRUE,FALSE,Active +GARD:8329,Active,Orphanet,ORPHA:56304,Disorder,[Malformation syndrome],Atelosteogenesis type II,"[AO2, AOII, Atelosteogenesis type 2, De la Chapelle dysplasia, Neonatal osseous dysplasia type 1]","A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.",[256050],,,,,Atelosteogenesis type 2,TRUE,FALSE,Active +GARD:833,Legacy,GARD,,,,,,,,,,,,Basaran Yilmaz syndrome,TRUE,FALSE,Active +GARD:8331,Active,Orphanet,ORPHA:52368,Disorder,[Disease],Mohr-Tranebjaerg syndrome,"[DDON syndrome, Deafness-dystonia-optic neuronopathy syndrome, Hearing loss-dystonia-optic neuronopathy syndrome]","An X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.",[304700],,,,,Mohr-Tranebjaerg syndrome,TRUE,FALSE,Active +GARD:8333,Active,Orphanet,ORPHA:69739,Disorder,[Disease],Athabaskan brainstem dysgenesis syndrome,"[ABSD, Athabascan brainstem dysgenesis syndrome, Navajo brainstem syndrome]","A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.",[601536],,,,,Human HOXA1 Syndromes,TRUE,FALSE,Active +GARD:8334,Active,Orphanet,ORPHA:98902,Disorder,[Disease],Amish nemaline myopathy,,A type of nemaline myopathy (NM) only observed in several families of the Amish community.,[605355],,,,,Amish Nemaline Myopathy,TRUE,FALSE,Active +GARD:8335,Legacy,GARD,,,,,,,,,,,,Nemaline myopathy 2,TRUE,FALSE,Retired +GARD:8336,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis type 4,TRUE,FALSE,Retired +GARD:8337,Active,Orphanet,ORPHA:63999,Subtype of disorder,[Clinical subtype],IgG4-related mediastinitis,"[Fibrosing mediastinitis, Mediastinal fibrosis, Sclerosing mediastinitis]","A rare systemic autoimmune disease characterized by an aggressive fibroinflammatory process with infiltration of IgG4-positive plasma cells in the mediastinum, potentially resulting in compression and functional impairment of vital mediastinal structures, and associated with elevated serum IgG4. Clinical symptoms are unspecific and include pain or symptoms due to mass effect. The condition may occur together with IgG4-related disease in other parts of the body.",,,,,,Fibrosing mediastinitis,TRUE,FALSE,Active +GARD:8338,Active,Orphanet,ORPHA:42775,Disorder,[Malformation syndrome],PHACE syndrome,"[PHACES syndrome, Pascual-Castroviejo syndrome type 2]","PHACE is an acronym used to describe a syndrome characterised by the association of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.","[140850, 606519]",,,,,PHACE syndrome,TRUE,FALSE,Active +GARD:8341,Active,Orphanet,ORPHA:559,Disorder,[Disease],Marinesco-Sjögren syndrome,,"Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.",[248800],,,,,Marinesco-Sjogren syndrome,TRUE,FALSE,Active +GARD:8343,Active,Orphanet,ORPHA:168544,Disorder,[Disease],"Spondylometaphyseal dysplasia, Golden type",[X-linked spondylometaphyseal dysplasia],"Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.",[313420],,,,,Spondylometaphyseal dysplasia X-linked,TRUE,FALSE,Active +GARD:8344,Active,Orphanet,ORPHA:97345,Subtype of disorder,[Clinical subtype],ABri amyloidosis,"[Familial dementia, British type]","A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.",[176500],,,,,ABri amyloidosis,TRUE,FALSE,Active +GARD:8345,Active,Orphanet,ORPHA:220436,Disorder,[Disease],Quebec platelet disorder,[Factor V Quebec],"A rare platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.",[601709],,,,,Quebec platelet disorder,TRUE,FALSE,Active +GARD:8346,Legacy,GARD,,,,,,,,,,,,"Albinism, minimal pigment type",TRUE,FALSE,Retired +GARD:8348,Legacy,GARD,,,,,,,,,,,,Pulmonary edema of mountaineers,TRUE,FALSE,Active +GARD:8349,Active,Orphanet,ORPHA:100033,Subtype of disorder,[Clinical subtype],Hypomaturation amelogenesis imperfecta,[Amelogenesis imperfecta type 2],,"[615887, 612529, 614832, 617217, 301200, 613211, 204700]",,,,,Amelogenesis imperfecta hypomaturation type,TRUE,FALSE,Active +GARD:835,Active,Orphanet,ORPHA:1875,Disorder,[Disease],Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,[Bassoe syndrome],"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.",[254000],,,,,Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,TRUE,FALSE,Active +GARD:8355,Legacy,GARD,,,,,,,,,,,,Kaolin pneumoconiosis,TRUE,FALSE,Active +GARD:8356,Legacy,GARD,,,,,,,,,,,,Coal worker's pneumoconiosis,TRUE,FALSE,Active +GARD:8357,Legacy,GARD,,,,,,,,,,,,Aluminosis,TRUE,FALSE,Active +GARD:8358,Legacy,GARD,,,,,,,,,,,,Shaver disease,TRUE,FALSE,Retired +GARD:8359,Legacy,GARD,,,,,,,,,,,,Graphite Pneumoconiosis,TRUE,FALSE,Active +GARD:836,Active,Orphanet,ORPHA:1948,Disorder,[Malformation syndrome],Epilepsy-microcephaly-skeletal dysplasia syndrome,[Battaglia-Neri syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996.",[601352],,,,,Battaglia-Neri syndrome,TRUE,FALSE,Active +GARD:8360,Active,Orphanet,ORPHA:85332,Disorder,[Disease],X-linked intellectual disability-retinitis pigmentosa syndrome,"[Aldred syndrome, Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion, Retinitis pigmentosa and intellectual disability due to del(X)(p11.3), Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3]","X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.",[300578],,,,,Aldred syndrome,TRUE,FALSE,Active +GARD:8367,Active,Orphanet,ORPHA:93324,Subtype of disorder,[Etiological subtype],Autosomal recessive Kenny-Caffey syndrome,,"A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia.",[244460],,,,,Kenny-Caffey syndrome type 1,TRUE,FALSE,Active +GARD:8368,Legacy,GARD,,,,,,,,,,,,"Granulomas, congenital cerebral",TRUE,FALSE,Active +GARD:8370,Active,Orphanet,ORPHA:70472,Disorder,[Disease],"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type","[COX deficiency, French-Canadian type, Cytochrome C oxidase deficiency, French-Canadian type, Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type, Leigh syndrome, French-Canadian type, Leigh syndrome, Saguenay-Lac-Saint-Jean type, SLSJ-COX deficiency]","Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.","[220111, 619065]",,,,,"Leigh syndrome, French Canadian type",TRUE,FALSE,Active +GARD:8371,Legacy,GARD,,,,,,,,,,,,Baritosis,TRUE,FALSE,Active +GARD:8372,Legacy,GARD,,,,,,,,,,,,Silicosiderosis,TRUE,FALSE,Active +GARD:8374,Legacy,GARD,,,,,,,,,,,,Labrador lung,TRUE,FALSE,Active +GARD:8378,Active,Orphanet,ORPHA:731,Disorder,[Disease],Autosomal recessive polycystic kidney disease,[AR-PKD],"A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys.","[617610, 263200]",,,,,Autosomal recessive polycystic kidney disease,TRUE,FALSE,Active +GARD:8379,Legacy,GARD,,,,,,,,,,,,"Arachidonic acid, absence of",TRUE,FALSE,Retired +GARD:838,Active,Orphanet,ORPHA:113,Disorder,[Disease],Bazex-Dupré-Christol syndrome,"[BDCS, Follicular atrophoderma and basal cell carcinomas]",Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.,[301845],,,,,Bazex-Dupre-Christol syndrome,TRUE,FALSE,Active +GARD:8380,Active,Orphanet,ORPHA:51608,Disorder,[Disease],Generalized arterial calcification of infancy,"[Idiopathic infantile arterial calcification, Idiopathic obliterative arteriopathy, Infantile arteriosclerosis, Occlusive infantile arteriopathy]","A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.","[208000, 614473]",,,,,Arterial calcification of infancy,TRUE,FALSE,Active +GARD:8382,Legacy,GARD,,,,,,,,,,,,2-Methylacetoacetyl CoA thiolase deficiency,TRUE,FALSE,Active +GARD:8383,Legacy,GARD,,,,,,,,,,,,Biliary hypoplasia,TRUE,FALSE,Active +GARD:8386,Legacy,GARD,,,,,,,,,,,,Global disaccharide intolerance,TRUE,FALSE,Active +GARD:8387,Active,Orphanet,ORPHA:20,Disorder,[Disease],3-hydroxy-3-methylglutaric aciduria,"[3-hydroxy-3-methylglutaryl-CoA lyase deficiency, HMG-CoA lyase deficiency, Hydroxymethylglutaric aciduria]","A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.",[246450],,,,,HMG CoA lyase deficiency,TRUE,FALSE,Active +GARD:8388,Legacy,GARD,,,,,,,,,,,,Hydroxycarboxylic aciduria,TRUE,FALSE,Retired +GARD:839,Legacy,GARD,,,,,,,,,,,,Bazopoulou-Kyrkanidou syndrome,TRUE,FALSE,Retired +GARD:8391,Active,Orphanet,ORPHA:664,Disorder,[Disease],Ornithine transcarbamylase deficiency,"[OCT deficiency, OTC deficiency, Ornithine carbamoyltransferase deficiency]","A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae.",[311250],,,,,Ornithine transcarbamylase deficiency,TRUE,FALSE,Active +GARD:8394,Legacy,GARD,,,,,,,,,,,,Hypolipoproteinemia,TRUE,FALSE,Active +GARD:8395,Legacy,GARD,,,,,,,,,,,,"Leukodystrophy, pseudometachromatic",TRUE,FALSE,Retired +GARD:8397,Active,Orphanet,ORPHA:168598,Disorder,[Disease],Brain demyelination due to methionine adenosyltransferase deficiency,"[MAT I/III deficiency, MAT deficiency, Methionine adenosyltransferase deficiency]",Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.,[250850],,,,,Methionine adenosyltransferase deficiency,TRUE,FALSE,Active +GARD:8398,Legacy,GARD,,,,,,,,,,,,Peroxisome disorders,FALSE,FALSE,Active +GARD:84,Active,Orphanet+OMIM,OMIM:608594,Subtype of disorder,[Disease subtype],"Lipodystrophy, congenital generalized, type 1","[lipodystrophy, berardinelli-seip congenital, type 1, Berardinelli-seip congenital lipodystrophy, type 1, brunzell syndrome, agpat2-related]","Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia ({12:Garg, 2004}).\n\n<Subhead> Genetic Heterogeneity of Congenital Generalized Lipodystrophy\n\nAlso see CGL2 ({269700}), caused by mutation in the BSCL2 gene ({606158}); CGL3 ({612526}), caused by mutation in the CAV1 gene ({601047}); and CGL4 ({613327}), caused by mutation in the PTRF gene ({603198}).",[608594],[528],[Congenital generalized lipodystrophy],[13388],,Congenital generalized lipodystrophy type 1,TRUE,FALSE,Active +GARD:8400,Legacy,GARD,,,,,,,,,,,,Galactorrhoea-Hyperprolactinaemia,TRUE,FALSE,Active +GARD:8401,Legacy,GARD,,,,,,,,,,,,Galactocele,TRUE,FALSE,Active +GARD:8402,Legacy,GARD,,,,,,,,,,,,Pseudopolycythaemia,TRUE,FALSE,Active +GARD:8403,Legacy,GARD,,,,,,,,,,,,Supranuclear ocular palsy,TRUE,FALSE,Active +GARD:8406,Active,Orphanet+OMIM,OMIM:305700,Subtype of disorder,[Disease subtype],"Spermatogenic failure, x-linked, 1","[Sertoli cell-only syndrome, del castillo syndrome, germinal cell aplasia]","In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules ({4:Sargent et al., 1999}).\n\nThere is evidence that Sertoli cell-only syndrome can be caused by interstitial deletions in the 'azoospermia factor' (AZF) region on the long arm of the Y chromosome (SPGFY1; {400042}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[305700],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,Sertoli cell-only syndrome,TRUE,FALSE,Active +GARD:8407,Active,Orphanet,ORPHA:1305,Disorder,[Malformation syndrome],Feingold syndrome,"[Brunner-Winter syndrome, Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum, FGLDS, FS, MMT, MODED syndrome, Microcephaly-digital anomalies-normal intelligence syndrome, Microcephaly-intellectual disability-tracheoesophageal fistula syndrome, Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome, ODED syndrome, Oculo-digito-esophageal-duodenal syndrome]","A rare genetic, congenital malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies (brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs), mild learning deficit and short palpebral fissures. The two subtypes are clinically distinguished by the presence (type 1) or absence (type 2) gastrointestinal atresia.","[614326, 164280]",,,,,Feingold syndrome,TRUE,FALSE,Active +GARD:841,Legacy,GARD,,,,,,,,,,,,Bd syndrome,TRUE,FALSE,Active +GARD:8410,Active,Orphanet,ORPHA:246,Disorder,[Malformation syndrome],Postaxial acrofacial dysostosis,"[Acrofacial dysostosis, Genee-Wiedemann type, Mandibulofacial dysostosis with postaxial limb anomalies, Miller syndrome, POADS, Postaxial acrodysostosis]","A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia.",[263750],,,,,Miller syndrome,TRUE,FALSE,Active +GARD:8413,Legacy,GARD,,,,,,,,,,,,Camera Marugo Cohen syndrome,TRUE,FALSE,Active +GARD:8414,Active,Orphanet,ORPHA:888,Disorder,[Malformation syndrome],Van der Woude syndrome,"[Cleft lip/palate with mucous cysts of lower lip, Lip-pit syndrome, VWS]","Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.","[119300, 604547, 606713]",,,,,Van der Woude syndrome,TRUE,FALSE,Active +GARD:8415,Legacy,GARD,,,,,,,,,,,,Van Bogaert-Hozay syndrome,TRUE,FALSE,Active +GARD:8416,Active,Orphanet,ORPHA:398166,Disorder,[Malformation syndrome],Focal facial dermal dysplasia,[FFDD],"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.","[227260, 614973, 614974, 136500]",,,,,Focal facial dermal dysplasia,TRUE,FALSE,Active +GARD:8417,Draft,GARD,,Disorder,[Clinical syndrome],Renal cell carcinoma 4,[RCC4],,,[217071],[Renal cell carcinoma],[13215],,Renal cell carcinoma 4,TRUE,FALSE,Active +GARD:8419,Active,Orphanet,ORPHA:137902,Disorder,[Morphological anomaly],Isolated optic nerve hypoplasia/aplasia,,"A rare genetic optic nerve disorder characterized by visual impairment or blindness resulting from varying degrees of underdevelopment of the optic nerve or even complete absence of the optic nerve, ganglion cells, and central retinal vessels. It may be unilateral, typically with otherwise normal brain development, or bilateral with accompanying severe and widespread congenital malformations of the central nervous system.",[165550],,,,,"Optic nerve hypoplasia, familial bilateral",TRUE,FALSE,Active +GARD:842,Active,Orphanet,ORPHA:2206,Disorder,[Malformation syndrome],Ankylosing vertebral hyperostosis with tylosis,,"A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.",[106400],,,,,Ankylosing vertebral hyperostosis with tylosis,TRUE,FALSE,Active +GARD:8420,Legacy,GARD,,,,,,,,,,,,Kifafa seizure disorder,TRUE,FALSE,Active +GARD:8421,Active,Orphanet,ORPHA:884,Disorder,[Malformation syndrome],Tetrasomy 12p,"[Isochromosome 12p mosaicism, Isochromosome 12p syndrome, Pallister-Killian syndrome]",Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.,[601803],,,,,Pallister-Killian mosaic syndrome,TRUE,FALSE,Active +GARD:8422,Active,Orphanet,ORPHA:709,Disorder,[Malformation syndrome],Peters plus syndrome,"[Krause-Kivlin syndrome, Krause-van Schooneveld-Kivlin syndrome, Peters anomaly with short limb dwarfism]","Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.",[261540],,,,,Peters plus syndrome,TRUE,FALSE,Active +GARD:8423,Active,Orphanet,ORPHA:1399,Disorder,[Malformation syndrome],Richards-Rundle syndrome,"[Ketoaciduria-intellectual disability-ataxia-deafness syndrome, Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome]","Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.",[245100],,,,,Richards-Rundle syndrome,TRUE,FALSE,Active +GARD:8424,Active,Orphanet,ORPHA:42062,Disorder,[Disease],Iminoglycinuria,,"A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.",[242600],,,,,Iminoglycinuria,TRUE,FALSE,Active +GARD:8426,Active,Orphanet,ORPHA:95720,Disorder,[Morphological anomaly],Thyroid hypoplasia,,"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.","[225250, 218700]",,,,,Thyroid dysgenesis,TRUE,FALSE,Active +GARD:8427,Active,Orphanet,ORPHA:34592,Disorder,[Disease],Immunodeficiency by defective expression of MHC class I,"[Bare lymphocyte syndrome type 1, MHC class I deficiency]","A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported.","[241600, 604571]",,,,,Bare lymphocyte syndrome,TRUE,FALSE,Active +GARD:8428,Active,Orphanet,ORPHA:1512,Disorder,[Malformation syndrome],Crane-Heise syndrome,,"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.",[218090],,,,,Crane-Heise syndrome,TRUE,FALSE,Active +GARD:8429,Legacy,GARD,,,,,,,,,,,,"Genu valgum, st Helena familial",TRUE,FALSE,Active +GARD:8431,Legacy,GARD,,,,,,,,,,,,Axial osteomalacia,TRUE,FALSE,Active +GARD:8432,Active,Orphanet,ORPHA:168572,Disorder,[Malformation syndrome],Native American myopathy,[Congenital myopathy-cleft palate-malignant hyperthermia syndrome],"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.",[255995],,,,,STAC3 Disorder,TRUE,FALSE,Active +GARD:8433,Active,Orphanet,ORPHA:99741,Disorder,[Malformation syndrome],King-Denborough syndrome,[Koussef-Nichols syndrome],"King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.",[145600],,,,,King Denborough syndrome,TRUE,FALSE,Active +GARD:8435,Active,Orphanet,ORPHA:2856,Disorder,[Malformation syndrome],Persistent Müllerian duct syndrome,"[PMDS, Persistent Müllerian derivatives]","Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.",[261550],,,,,Persistent Müllerian duct syndrome,TRUE,FALSE,Active +GARD:8436,Active,Orphanet,ORPHA:282,Group of disorders,[Clinical group],Frontotemporal dementia,[FTD],"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms).","[172700, 607485, 600274, 600795]",,,,,Frontotemporal dementia,TRUE,FALSE,Active +GARD:8437,Legacy,GARD,,,,,,,,,,,,Glassy cell carcinoma of the cervix,TRUE,FALSE,Active +GARD:8438,Active,Orphanet,ORPHA:3387,Disorder,[Disease],Isolated anterior cervical hypertrichosis,"[Hairy throat syndrome, Tsukahara-Kajii syndrome]",A rare form of localised hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.,[600457],,,,,Isolated anterior cervical hypertrichosis,TRUE,FALSE,Active +GARD:844,Active,Orphanet+OMIM,OMIM:255700,Subtype of disorder,[Disease subtype],"Myotonia congenita, autosomal recessive","[Becker disease, myotonia, generalized]","Autosomal recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness ({8:Koch et al., 1993}). Becker disease is more common and more severe than Thomsen disease.",[255700],[614],[Thomsen and Becker disease],[12301],,Myotonia congenita autosomal recessive,TRUE,FALSE,Draft +GARD:8442,Legacy,GARD,,,,,,,,,,,,Partial corpus callosum agenesis,TRUE,FALSE,Retired +GARD:8444,Legacy,GARD,,,,,,,,,,,,Keratoconjunctivitis sicca,FALSE,FALSE,Retired +GARD:8445,Legacy,GARD,,,,,,,,,,,,Giant papillary conjunctivitis,TRUE,FALSE,Active +GARD:8446,Legacy,GARD,,,,,,,,,,,,Conjunctivitis with Pseudomembrane,TRUE,FALSE,Active +GARD:8449,Active,Orphanet,ORPHA:85202,Disorder,[Malformation syndrome],Keutel syndrome,[Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome],"Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.",[245150],,,,,Keutel syndrome,TRUE,FALSE,Active +GARD:8451,Legacy,GARD,,,,,,,,,,,,Sener syndrome,TRUE,FALSE,Active +GARD:8452,Legacy,GARD,,,,,,,,,,,,Tièche-Jadassohn nevus,TRUE,FALSE,Active +GARD:8456,Legacy,GARD,,,,,,,,,,,,Stomatocytosis II,TRUE,FALSE,Retired +GARD:8457,Active,Orphanet,ORPHA:32960,Disorder,[Disease],Tumor necrosis factor receptor 1 associated periodic syndrome,"[Familial Hibernian fever, TNF receptor 1-associated periodic syndrome, TRAPS syndrome]","Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).",[142680],,,,,Tumor necrosis factor receptor-associated periodic syndrome,TRUE,FALSE,Active +GARD:846,Active,Orphanet,ORPHA:1237,Disorder,[Malformation syndrome],Beemer-Ertbruggen syndrome,[Lethal hydrocephalus-cardiac malformation-dense bones syndrome],"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.",[209970],,,,,Beemer Ertbruggen syndrome,TRUE,FALSE,Active +GARD:8460,Legacy,GARD,,,,,,,,,,,,Anton's syndrome,TRUE,FALSE,Active +GARD:8461,Legacy,GARD,,,,,,,,,,,,Hairy palms and soles,TRUE,FALSE,Active +GARD:8465,Legacy,GARD,,,,,,,,,,,,Hairy nose tip,TRUE,FALSE,Active +GARD:8466,Active,Orphanet,ORPHA:3453,Disorder,[Disease],Autoimmune polyendocrinopathy type 1,"[APECED syndrome, APS type 1, APS1, Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome, Autoimmune polyendocrine syndrome type 1, Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome, Autoimmune polyglandular syndrome type 1, HAM syndrome, Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome, MEDAC syndrome, Multiple endocrine deficiency-Addison disease-candidiasis syndrome]","A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.",[240300],,,,,Autoimmune polyglandular syndrome type 1,TRUE,FALSE,Active +GARD:8468,Active,Orphanet,ORPHA:252206,Disorder,[Disease],Melanoma and neural system tumor syndrome,[Melanoma-astrocytoma syndrome],Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma; see this term).,[155755],,,,,Melanoma astrocytoma syndrome,TRUE,FALSE,Active +GARD:8470,Legacy,GARD,,,,,,,,,,,,"Microcephaly, holoprosencephaly, and intrauterine growth retardation",TRUE,FALSE,Active +GARD:8471,Active,Orphanet,ORPHA:54,Disorder,[Disease],X-linked recessive ocular albinism,"[OA1, Ocular albinism type 1, Ocular albinism, Nettleship-Falls type, XLOA]","X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.",[300500],,,,,Ocular albinism type 1,TRUE,FALSE,Active +GARD:8472,Active,Orphanet,ORPHA:575,Disorder,[Disease],Muckle-Wells syndrome,[Neutrophilic urticaria],"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).",[191900],,,,,Muckle-Wells syndrome,TRUE,FALSE,Active +GARD:8476,Active,Orphanet,ORPHA:99718,Disorder,[Disease],Leber plus disease,[LHON plus disease],"A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias.","[500001, 165200]",,,,,Leber hereditary optic neuropathy with dystonia,TRUE,FALSE,Active +GARD:8477,Legacy,GARD,,,,,,,,,,,,Renal oncocytoma,TRUE,FALSE,Active +GARD:8479,Active,Orphanet,ORPHA:538756,Disorder,[Disease],Familial multiple discoid fibromas,[Familial multiple trichodiscomas],"A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.",[190340],,,,,Familial multiple trichodiscomas,TRUE,FALSE,Active +GARD:848,Active,Orphanet,ORPHA:117,Disorder,[Disease],Behçet disease,,"A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.",[109650],,,,,Behçet disease,TRUE,FALSE,Active +GARD:8480,Active,Orphanet,ORPHA:90349,Disorder,[Disease],Autosomal recessive cutis laxa type 1,"[ARCL1, Autosomal recessive cutis laxa with severe systemic involvement, Autosomal recessive cutis laxa, pulmonary emphysema type]","A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).","[219100, 614437]",,,,,"Cutis laxa, autosomal recessive type 1",TRUE,FALSE,Active +GARD:8482,Legacy,GARD,,,,,,,,,,,,Thumb deformity,TRUE,FALSE,Active +GARD:8484,Legacy,GARD,,,,,,,,,,,,Trigger thumb,TRUE,FALSE,Active +GARD:8485,Active,Orphanet,ORPHA:85203,Disorder,[Malformation syndrome],Acropectoral syndrome,"[ACRP syndrome, Syndactyly-preaxial polydactyly-sternal deformity syndrome]","A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations.",[605967],,,,,Acropectoral syndrome,TRUE,FALSE,Active +GARD:8486,Active,Orphanet,ORPHA:2953,Disorder,[Disease],Musculocontractural Ehlers-Danlos syndrome,"[Adducted thumb-clubfoot syndrome, Distal arthrogryposis with peculiar facies and hydronephrosis, Dündar syndrome, Ehlers-Danlos syndrome, Kosho type, Musculocontractural EDS, mcEDS]","A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.","[601776, 615539]",,,,,Musculocontractural Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:8487,Active,Orphanet,ORPHA:199267,Disorder,[Disease],Infantile digital fibromatosis,"[Inclusion body fibromatosis, Recurring digital fibrous tumor of childhood, Reye tumor]","Infantile digital fibromatosis is a rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.",,,,,,Infantile digital fibromatosis,TRUE,FALSE,Active +GARD:8488,Active,Orphanet,ORPHA:319487,Disorder,[Disease],Familial papillary or follicular thyroid carcinoma,"[FNMTC, Familial pure nonmedullary thyroid carcinoma]","Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.","[603386, 188550, 606240, 188470, 616534, 603744, 616535]",,,,,"Nonmedullary thyroid carcinoma, with or without cell oxyphilia",TRUE,FALSE,Active +GARD:8489,Legacy,GARD,,,,,,,,,,,,MASS phenotype,TRUE,FALSE,Active +GARD:849,Legacy,GARD,,,,,,,,,,,,Behr syndrome,TRUE,FALSE,Active +GARD:8490,Legacy,GARD,,,,,,,,,,,,Ectopia pupillae,TRUE,FALSE,Active +GARD:8491,Active,Orphanet+OMIM,OMIM:606190,Subtype of disorder,[Disease subtype],"Meningioma, radiation-induced",,"Following radiotherapy, secondary cancer may occur after a long latent period. {1:Zattara-Cannoni et al. (2001)} reported cytogenetic studies of 6 cases of radiation-induced meningiomas. Two of the cases occurred after radiation for tinea capitis, after an interval of 17 and 54 years, respectively; in the first of these cases, local recurrence occurred after an additional period of 29 years. Using spectral karyotyping (SKY) and comparative genomic hybridization (CGH), {1:Zattara-Cannoni et al. (2001)} found that all 6 cases had the same chromosome abnormality, t(1;22)(p11;q12). They suggested that a gene on chromosome 1p11 is involved in radiation-induced meningiomas. A locus in the 22q12.3-qter region is a well-established site of mutation causing meningioma (see {156100}).",[606190],[2495],[Meningioma],[7015],,Radiation induced meningioma,TRUE,FALSE,Active +GARD:8494,Legacy,GARD,,,,,,,,,,,,Ribbing disease,TRUE,FALSE,Active +GARD:8495,Active,Orphanet,ORPHA:139507,Disorder,[Disease],African iron overload,[Bantu siderosis],"A rare disorder described in sub-Saharan African populations and characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.",[601195],,,,,Bantu siderosis,TRUE,FALSE,Active +GARD:8497,Active,Orphanet+OMIM,OMIM:605472,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iic",,"Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes ({5:Eudy et al., 1998}). See {276900} for clinical characterization of Usher syndrome types I, II, and III.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A ({276901}).",[605472],[231178],[Usher syndrome type 2],[5440],,"Usher syndrome, type 2C",TRUE,FALSE,Active +GARD:8498,Legacy,GARD,,,,,,,,,,,,"VACTERL association with hydrocephaly, X-linked",TRUE,FALSE,Active +GARD:8499,Legacy,GARD,,,,,,,,,,,,Thyroid hormone plasma membrane transport defect,TRUE,FALSE,Active +GARD:85,Active,Orphanet,ORPHA:2655,Disorder,[Disease],Thanatophoric dysplasia,[TD],"A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.","[187601, 187600, 156830]",,,,,Thanatophoric dysplasia,TRUE,FALSE,Active +GARD:8500,Legacy,GARD,,,,,,,,,,,,Cholesterol pneumonia,TRUE,FALSE,Active +GARD:8501,Active,Orphanet,ORPHA:171723,Disorder,[Disease],White sponge nevus,"[Hereditary mucosal leukokeratosis, White sponge nevus of Cannon]","White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.","[615785, 193900]",,,,,White sponge nevus of cannon,TRUE,FALSE,Active +GARD:8502,Legacy,GARD,,,,,,,,,,,,Coloboma of optic nerve,TRUE,FALSE,Active +GARD:8503,Legacy,GARD,,,,,,,,,,,,Squamous cell carcinoma of the head and neck,FALSE,FALSE,Active +GARD:8505,Active,Orphanet,ORPHA:75497,Disorder,[Disease],X-linked Ehlers-Danlos syndrome,"[EDS V, Ehlers-Danlos syndrome type 5, X-linked EDS]","A rare systemic disease characterized by a severe phenotype in all male patients, combining abnormality of connective tissue typical for Ehlers-Danlos syndrome (including joint hypermobility, scoliosis, soft and doughy skin, hyperextensible skin, abnormal scarring, facial peculiarities, and generalized hypotonia, among others) and eventually lethal congestive heart failure due to polyvalvular disease. Female carriers are affected to a variable degree.",,,,,,Ehlers-Danlos syndrome type 5,TRUE,FALSE,Retired +GARD:8507,Active,Orphanet,ORPHA:230839,Disorder,[Disease],Classical-like Ehlers-Danlos syndrome type 1,"[Classical-like EDS type 1, Ehlers-Danlos syndrome due to tenascin-X deficiency, clEDS type 1]","A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogeric skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.",[606408],,,,,Classical-like Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:8508,Legacy,GARD,,,,,,,,,,,,"Ehlers-Danlos syndrome, dysfibronectinemic type",TRUE,FALSE,Active +GARD:8509,Active,Orphanet,ORPHA:1133,Disorder,[Malformation syndrome],AREDYLD syndrome,[Acrorenal defect-ectodermal dysplasia-diabetes syndrome],"A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly.",[207780],,,,,AREDYLD,TRUE,FALSE,Active +GARD:8510,Legacy,GARD,,,,,,,,,,,,Microcephaly with spastic quadriplegia,TRUE,FALSE,Active +GARD:8513,Legacy,GARD,,,,,,,,,,,,Retroperitoneal liposarcoma,TRUE,FALSE,Active +GARD:8514,Legacy,GARD,,,,,,,,,,,,Visceral steatosis,TRUE,FALSE,Active +GARD:8516,Legacy,GARD,,,,,,,,,,,,Familial myelofibrosis,TRUE,FALSE,Retired +GARD:8517,Active,Orphanet,ORPHA:384,Disorder,[Disease],Huriez syndrome,"[Palmoplantar hyperkeratosis-sclerodactyly syndrome, Palmoplantar keratoderma-sclerodactyly syndrome, Scleroatrophic syndrome, Sclerotylosis]","A rare genetic skin disease characterized by the triad of congenital scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas.",[181600],,,,,Palmoplantar keratoderma-sclerodactyly syndrome,TRUE,FALSE,Active +GARD:8518,Legacy,GARD,,,,,,,,,,,,Absence of gluteal muscle,TRUE,FALSE,Active +GARD:8519,Legacy,GARD,,,,,,,,,,,,Cardioauditory syndrome of Sanchez Cascos,TRUE,FALSE,Active +GARD:852,Legacy,GARD,,,,,,,,,,,,Ben Ari Shuper Mimouni syndrome,TRUE,FALSE,Active +GARD:8520,Active,Orphanet,ORPHA:1568,Disorder,[Malformation syndrome],X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,,"A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.",[304340],,,,,"Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures",TRUE,FALSE,Active +GARD:8521,Active,Orphanet,ORPHA:1145,Disorder,[Disease],Infantile-onset X-linked spinal muscular atrophy,"[SMAX2, Spinal muscular atrophy with arthrogryposis, X-linked distal arthrogryposis multiplex congenita, X-linked spinal muscular atrophy type 2]","A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.",[301830],,,,,"Arthrogryposis multiplex congenita, distal, X-linked",TRUE,FALSE,Active +GARD:8522,Legacy,GARD,,,,,,,,,,,,Capillary hemangioblastoma,TRUE,FALSE,Retired +GARD:8524,Legacy,GARD,,,,,,,,,,,,Supraumbilical midabdominal raphe and facial cavernous hemangiomas,TRUE,FALSE,Active +GARD:8526,Active,Orphanet,ORPHA:171700,Disorder,[Disease],Diffuse panbronchiolitis,,"Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis",[604809],,,,,Diffuse panbronchiolitis,TRUE,FALSE,Active +GARD:8527,Active,Orphanet+OMIM,OMIM:234810,Subtype of disorder,[Disease subtype],"Pulmonary venoocclusive disease 2, autosomal recessive","[Hemangiomatosis, familial pulmonary capillary]","Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertension (PPH; see {178600}). It is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. The disorder can cause occult alveolar hemorrhage. High-resolution CT imaging of the chest shows patchy centrilobular ground-glass opacities, septal lines, and lymph node enlargement (summary by {2:Eyries et al., 2014}).\n\nFor a discussion of genetic heterogeneity of pulmonary venoocclusive disease, see PVOD1 ({265450}).",[234810],[199241],[Pulmonary capillary hemangiomatosis],[15027],,"Hemangiomatosis, familial pulmonary capillary",TRUE,FALSE,Active +GARD:8528,Active,Orphanet,ORPHA:244242,Disorder,[Disease],HELLP syndrome,"[Hemolysis, elevated liver enzymes, low platelets in pregnancy, Hemolysis-elevated liver enzymes-low platelets syndrome]","A rare hemorrhagic disorder due to an acquired platelet anomaly characterized by hemolysis, elevated liver enzymes and thrombocytopenia that affects pregnant or post-partum women, and is frequently associated with severe preeclampsia. Symptoms are variable, typically including right upper quadrant or epigastric abdominal pain, nausea, vomiting, excessive weight gain, generalized edema, hypertension, general malaise, right shoulder pain, backache, and/or headache. Hepatic hemorrhage and rupture, renal failure, and pulmonary edema can result in maternal and/or fetal death.",,,,,,HELLP syndrome,TRUE,FALSE,Active +GARD:8529,Active,Orphanet,ORPHA:295044,Disorder,[Morphological anomaly],Macrodactyly of fingers,[Macrodactyly of hand],"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of the hand, typically within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter. The index finger is most commonly affected. If two or more digits are involved, these are always adjacent. The enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. Patients may experience pain and reduced range of motion.",,,,,,Macrodactyly of fingers,TRUE,FALSE,Active +GARD:853,Active,Orphanet,ORPHA:100978,Disorder,[Malformation syndrome],Cloverleaf skull-asphyxiating thoracic dysplasia syndrome,[Benallegue-Lacete syndrome],"A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.",,,,,,Benallegue Lacete syndrome,TRUE,FALSE,Active +GARD:8530,Active,Orphanet,ORPHA:399805,Disorder,[Disease],Male infertility with azoospermia or oligozoospermia due to single gene mutation,,"A rare, genetic male infertility due to a sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.","[617960, 617706, 270960, 619202, 615413, 617707, 615841, 619108, 258150, 615842, 108420, 618086, 615081, 618115, 613957, 305700, 618110, 309120, 616950]",,,,,Spermatogenesis arrest,TRUE,FALSE,Active +GARD:8531,Active,Orphanet+OMIM,OMIM:248340,Subtype of disorder,[Malformation syndrome subtype],3mc syndrome 3,"[Facial clefting syndrome, gypsy type, malpuech facial clefting syndrome, formerly]","The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by {10:Rooryck et al., 2011}).\n\nFor a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 ({257920}).",[248340],[293843],[3MC syndrome],[1118],,Malpuech facial clefting syndrome,TRUE,FALSE,Retired +GARD:8532,Active,Orphanet,ORPHA:220460,Disorder,[Disease],Attenuated familial adenomatous polyposis,"[AFAP, Attenuated FAP, Attenuated familial polyposis coli]","A mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.","[612591, 616415, 175100, 615083, 608456]",,,,,Attenuated familial adenomatous polyposis,TRUE,FALSE,Active +GARD:8533,Active,Orphanet,ORPHA:443909,Group of disorders,[Clinical group],Hereditary nonpolyposis colon cancer,"[Familial nonpolyposis colon cancer, Familial nonpolyposis colorectal cancer, HNPCC, Hereditary nonpolyposis colorectal cancer]","A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.",,,,,,Familial colorectal cancer,TRUE,FALSE,Active +GARD:8534,Legacy,GARD,,,,,,,,,,,,Eosinophilic pustular folliculitis,TRUE,FALSE,Active +GARD:8535,Active,Orphanet,ORPHA:661,Disorder,[Disease],Congenital central hypoventilation syndrome,"[CCHS, Congenital central alveolar hypoventilation syndrome, Ondine curse, Ondine syndrome]",Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system.,[209880],,,,,Congenital central hypoventilation syndrome,TRUE,FALSE,Active +GARD:8538,Active,Orphanet,ORPHA:98085,Group of disorders,[Category],"46,XY disorder of sex development","[46,XY DSD]",,,,,,,"46, XY disorders of sexual development",TRUE,FALSE,Active +GARD:8539,Active,Orphanet,ORPHA:210128,Disorder,[Disease],Urocanic aciduria,[Encephalopathy due to urocanase deficiency],Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.,[276880],,,,,Urocanase deficiency,TRUE,FALSE,Active +GARD:8540,Legacy,GARD,,,,,,,,,,,,"Trypanosomiasis, Human West-African",TRUE,FALSE,Active +GARD:8541,Active,Orphanet,ORPHA:95432,Group of disorders,[Clinical group],Primary progressive aphasia,"[Mesulam syndrome, PPA]","Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).",,,,,,Primary progressive aphasia,TRUE,FALSE,Active +GARD:8542,Active,Orphanet,ORPHA:93442,Group of disorders,[Clinical group],Chondrodysplasia punctata,[CDP],,,,,,,Chondrodysplasia punctata syndrome,TRUE,FALSE,Active +GARD:8543,Legacy,GARD,,,,,,,,,,,,Accessory navicular bone,FALSE,FALSE,Active +GARD:8546,Legacy,GARD,,,,,,,,,,,,Accessory deep peroneal nerve,TRUE,FALSE,Active +GARD:8547,Active,Orphanet,ORPHA:358,Disorder,[Disease],Gitelman syndrome,,A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.,[263800],,,,,Gitelman syndrome,TRUE,FALSE,Active +GARD:8548,Active,Orphanet,ORPHA:98856,Disorder,[Disease],Charcot-Marie-Tooth disease type 2B1,"[AR-CMT2B1, Autosomal recessive Charcot-Marie-Tooth disease type 2B1, Autosomal recessive axonal CMT4C1]","Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.",[605588],,,,,Charcot-Marie-Tooth disease type 2B1,TRUE,FALSE,Active +GARD:8549,Active,Orphanet,ORPHA:570,Disorder,[Disease],Moebius syndrome,[Möbius syndrome],"A very rare congenital cranial dysinnervation disorder characterized by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects.",[157900],,,,,Moebius syndrome,TRUE,FALSE,Active +GARD:855,Legacy,GARD,,,,,,,,,,,,Benign autosomal dominant myopathy,TRUE,FALSE,Active +GARD:8550,Active,Orphanet,ORPHA:86920,Disorder,[Disease],Dermatopathia pigmentosa reticularis,,"A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis.",[125595],,,,,Dermatopathia pigmentosa reticularis,TRUE,FALSE,Active +GARD:8552,Legacy,GARD,,,,,,,,,,,,"Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification",TRUE,FALSE,Active +GARD:8553,Active,Orphanet,ORPHA:31709,Disorder,[Disease],Infantile convulsions and choreoathetosis,"[ICCA syndrome, Paroxysmal kinesigenic dyskinesia and infantile convulsions]",Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.,[602066],,,,,Familial infantile convulsions and paroxysmal choreoathetosis,TRUE,FALSE,Active +GARD:8554,Legacy,GARD,,,,,,,,,,,,"Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch",TRUE,FALSE,Active +GARD:8555,Active,Orphanet,ORPHA:93571,Subtype of disorder,[Histopathological subtype],Dense deposit disease,[Membranoproliferative glomerulonephritis type 2],"A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits.",[609814],,,,,Dense deposit disease,TRUE,FALSE,Active +GARD:8556,Legacy,GARD,,,,,,,,,,,,Rowley-Rosenberg syndrome,TRUE,FALSE,Active +GARD:8557,Active,Orphanet+OMIM,OMIM:300062,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 14",,,[300062],[777],[X-linked non-syndromic intellectual disability],[18640],,"Mental retardation, X-linked 14",TRUE,FALSE,Retired +GARD:8558,Legacy,GARD,,,,,,,,,,,,Burning mouth syndrome type 3,TRUE,FALSE,Retired +GARD:8559,Active,Orphanet+OMIM,OMIM:194071,Subtype of disorder,[Disease subtype],Wilms tumor 2,,,[194071],[654],[Nephroblastoma],[7892],,Familial Wilms tumor 2,TRUE,FALSE,Active +GARD:856,Active,Orphanet+OMIM,OMIM:601764,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 1",,"Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal ({3:Franzoni et al., 2005}).\n\nSee also benign familial neonatal seizures (BFNS1; {121200}).\n\n{1:Deprez et al. (2009)} provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.\n\n<Subhead> Genetic Heterogeneity of Benign Familial Infantile Seizures\n\nThe BFIS1 locus has been mapped to chromosome 19q. BFIS2 ({605751}) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 ({607745}), which is caused by the mutations in the SCN2A gene ({182390}) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 ({612627}) has been mapped to chromosome 1p. BFIS5 ({617080}) is caused by mutation in the SCN8A gene ({600702}) on chromosome 12q13. BFIS6 (see {610353}) is caused by mutation in the CHRNA2 gene ({118502}) on chromosome 8p21.",[601764],[306],[Benign familial infantile epilepsy],[857],,"Convulsions, benign familial infantile, 1",TRUE,FALSE,Active +GARD:8561,Legacy,GARD,,,,,,,,,,,,Kousseff Nichols syndrome,TRUE,FALSE,Active +GARD:8562,Active,Orphanet,ORPHA:808,Disorder,[Malformation syndrome],Seckel syndrome,,"A rare form of microcephalic primordial dwarfism characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.","[606744, 615807, 210600, 616777, 616051, 613823, 616171, 600546, 613676]",,,,,Seckel syndrome,TRUE,FALSE,Active +GARD:8563,Active,Orphanet,ORPHA:238606,Disorder,[Disease],Primary orthostatic tremor,[POT],"Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.",,,,,,Primary orthostatic tremor,TRUE,FALSE,Active +GARD:8564,Legacy,GARD,,,,,,,,,,,,Fetal cystic hygroma,TRUE,FALSE,Active +GARD:8565,Legacy,GARD,,,,,,,,,,,,Radiation induced brachial plexopathy,TRUE,FALSE,Active +GARD:8566,Legacy,GARD,,,,,,,,,,,,Radio-ulnar synostosis type 2,TRUE,FALSE,Active +GARD:8567,Legacy,GARD,,,,,,,,,,,,Situs inversus totalis with cystic dysplasia of kidneys and pancreas,TRUE,FALSE,Active +GARD:8568,Legacy,GARD,,,,,,,,,,,,Acinic cell carcinoma,TRUE,FALSE,Active +GARD:8569,Legacy,GARD,,,,,,,,,,,,Warthin tumor,TRUE,FALSE,Active +GARD:857,Active,Orphanet,ORPHA:306,Disorder,[Disease],Benign familial infantile epilepsy,"[BFIE, BFIS, Benign familial infantile convulsions, Benign familial infantile seizures]","Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.","[612627, 605751, 617080, 607745, 601764]",,,,,Benign familial infantile epilepsy,TRUE,FALSE,Active +GARD:8570,Active,Orphanet,ORPHA:83601,Disorder,[Disease],Steroid-responsive encephalopathy associated with autoimmune thyroiditis,"[Hashimoto encephalitis, SREAT]","Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.",,,,,,Hashimoto encephalopathy,TRUE,FALSE,Active +GARD:8571,Legacy,GARD,,,,,,,,,,,,Polycystic bone disease,TRUE,FALSE,Active +GARD:8572,Legacy,GARD,,,,,,,,,,,,Intervertebral disc disease,FALSE,FALSE,Active +GARD:8573,Active,Orphanet,ORPHA:219,Disorder,[Disease],Delta-sarcoglycan-related limb-girdle muscular dystrophy R6,"[Autosomal recessive limb-girdle muscular dystrophy type 2F, Delta-sarcoglycan-related LGMD R6, Delta-sarcoglycanopathy, LGMD due to delta-sarcoglycan deficiency, LGMD type 2F, LGMD2F, Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency, Limb-girdle muscular dystrophy type 2F]","A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.",[601287],,,,,Limb-girdle muscular dystrophy type 2F,TRUE,FALSE,Active +GARD:8574,Active,Orphanet,ORPHA:268,Disorder,[Disease],Dysferlin-related limb-girdle muscular dystrophy R2,"[Autosomal recessive limb-girdle muscular dystrophy type 2B, Dysferlin-related LGMD R2, LGMD due to dysferlin deficiency, LGMD type 2B, LGMD2B, Limb-girdle muscular dystrophy due to dysferlin deficiency, Limb-girdle muscular dystrophy type 2B]","A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.",[253601],,,,,Limb-girdle muscular dystrophy type 2B,TRUE,FALSE,Active +GARD:8575,Legacy,GARD,,,,,,,,,,,,"Myasthenia gravis, limb-girdle",TRUE,FALSE,Active +GARD:8576,Legacy,GARD,,,,,,,,,,,,Balkan endemic nephropathy,TRUE,FALSE,Active +GARD:8577,Active,Orphanet,ORPHA:280898,Group of disorders,[Category],Panuveitis,[Total uveitis],,,,,,,Panuveitis,TRUE,FALSE,Active +GARD:8578,Active,Orphanet+OMIM,OMIM:602404,Subtype of disorder,[Disease subtype],"Parkinson disease 3, autosomal dominant",,"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.",[602404],[2828],[Young-onset Parkinson disease],[16610],,Parkinson disease type 3,TRUE,FALSE,Active +GARD:8580,Active,Orphanet,ORPHA:1914,Disorder,[Malformation syndrome],Vitamin K antagonist embryofetopathy,"[Vitamin K antagonist embryopathy, Warfarin embryofetopathy, Warfarin embryopathy, di Sala syndrome]","Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia.",,,,,,Warfarin syndrome,TRUE,FALSE,Active +GARD:8582,Legacy,GARD,,,,,,,,,,,,Autoimmune Inner Ear disease,TRUE,FALSE,Active +GARD:8583,Active,Orphanet,ORPHA:306527,Disorder,[Morphological anomaly],Isolated hereditary congenital facial paralysis,,"Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.",[601471],,,,,Hereditary congenital facial paresis,TRUE,FALSE,Active +GARD:8584,Legacy,GARD,,,,,,,,,,,,Calabro syndrome,TRUE,FALSE,Active +GARD:8585,Active,Orphanet,ORPHA:1517,Disorder,[Malformation syndrome],Cantú syndrome,"[Congenital hypertrichosis-acromegaloid facial features spectrum, Congenital hypertrichosis-coarse facial features spectrum, Hypertrichotic osteochondrodysplasia]","Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.",[239850],,,,,Cantu syndrome,TRUE,FALSE,Active +GARD:8586,Active,Orphanet,ORPHA:2872,Disorder,[Malformation syndrome],"Cardiocranial syndrome, Pfeiffer type","[Craniosynostosis-congenital heart disease-intellectual disability syndrome, Pfeiffer-Singer-Zschiesche syndrome]","A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.",[218450],,,,,Pfeiffer-type cardiocranial syndrome,TRUE,FALSE,Active +GARD:8587,Legacy,GARD,,,,,,,,,,,,"Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert",TRUE,FALSE,Active +GARD:8588,Active,Orphanet+OMIM,OMIM:144010,Subtype of disorder,[Disease subtype],"Hypercholesterolemia, familial, 2","[hypercholesterolemia, familial, due to ligand-defective apolipoprotein b, Hypercholesterolemia, autosomal dominant, type b, apolipoprotein b-100, familial ligand-defective, apolipoprotein b-100, familial defective]",,[144010],[391665],[Homozygous familial hypercholesterolemia],[10416],,Autosomal dominant type B hypercholesterolemia,FALSE,FALSE,Active +GARD:8589,Legacy,GARD,,,,,,,,,,,,Coffin syndrome 1,TRUE,FALSE,Active +GARD:8590,Legacy,GARD,,,,,,,,,,,,Heterochromia iridis,FALSE,FALSE,Active +GARD:8591,Draft,GARD,,Disorder,[Disease],X-linked visceral heterotaxy 1,"[HTX1, Laterality, X-linked, Situs inversus, complex cardiac defects, and splenic defects, X-linked, Heterotaxy, visceral, 1, X-linked, Heterotaxy, visceral, X-linked]","X-linked visceral heterotaxy type 1 is a rare form of heterotaxy. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by genetic changes in the ZIC3 gene, is inherited in an X-linked recessive fashion. It is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia). Affected individuals can also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus.",[306955],[450],[Heterotaxia],[10875],,X-linked visceral heterotaxy 1,TRUE,FALSE,Active +GARD:8592,Active,Orphanet,ORPHA:98920,Disorder,[Disease],Spinal muscular atrophy with respiratory distress type 1,"[Autosomal recessive distal spinal muscular atrophy type 1, Autosomal recessive spinal muscular atrophy with respiratory distress, Diaphragmatic spinal muscular atrophy, Distal hereditary motor neuropathy type 6, Distal-HMN type 6, SIANRF, SMARD1, Severe infantile axonal neuropathy with respiratory failure type 1, dHMN6, dSMA1]","Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.",[604320],,,,,Spinal muscular atrophy with respiratory distress 1,TRUE,FALSE,Active +GARD:8593,Active,Orphanet,ORPHA:77296,Disorder,[Malformation syndrome],Morgagni-Stewart-Morel syndrome,[Hyperostosis frontalis interna],"A rare cranial malformation characterized by hyperostosis frontalis interna, variably associated with metabolic and endocrine disorders (such as obesity, diabetes mellitus, and hirsutism, among others). Compression by calvarial thickening may lead to cerebral atrophy and present with cognitive impairment, neuropsychiatric symptoms, headaches, and epilepsy. The condition predominantly affects women.",[144800],,,,,Morgagni-Stewart-Morel syndrome,TRUE,FALSE,Active +GARD:8594,Legacy,GARD,,,,,,,,,,,,Maple syrup urine disease type 1A,TRUE,FALSE,Retired +GARD:8595,Active,Orphanet,ORPHA:96,Disorder,[Disease],Ataxia with vitamin E deficiency,"[AVED, Ataxia with isolated vitamin E deficiency, Familial isolated vitamin E deficiency, Friedreich-like ataxia, Isolated vitamin E deficiency]","A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.",[277460],,,,,Ataxia with vitamin E deficiency,TRUE,FALSE,Active +GARD:8596,Legacy,GARD,,,,,,,,,,,,Maple syrup urine disease type 2,TRUE,FALSE,Retired +GARD:8597,Legacy,GARD,,,,,,,,,,,,Maple syrup urine disease type 1B,TRUE,FALSE,Retired +GARD:8598,Active,Orphanet,ORPHA:44890,Disorder,[Disease],Gastrointestinal stromal tumor,"[GIST, Gastrointestinal stromal sarcoma]","Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.","[175510, 606764]",,,,,Gastrointestinal Stromal Tumors,TRUE,FALSE,Active +GARD:86,Active,Orphanet,ORPHA:314597,Disorder,[Malformation syndrome],Chudley-McCullough syndrome,,"Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.",[604213],,,,,Chudley-Mccullough syndrome,TRUE,FALSE,Active +GARD:860,Active,Orphanet,ORPHA:1548,Disorder,[Malformation syndrome],Cryptorchidism-arachnodactyly-intellectual disability syndrome,[Van Benthem-Driessen-Hanveld syndrome],"Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.",,,,,,Van Benthem-Driessen-Hanveld syndrome,TRUE,FALSE,Active +GARD:8600,Active,Orphanet,ORPHA:140969,Disorder,[Disease],Saldino-Mainzer syndrome,"[Conorenal syndrome, Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome]","Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.","[615630, 266920]",,,,,"Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia",TRUE,FALSE,Active +GARD:8602,Legacy,GARD,,,,,,,,,,,,Acetyl-carnitine deficiency,TRUE,FALSE,Active +GARD:8603,Legacy,GARD,,,,,,,,,,,,Acanthosis nigricans,FALSE,FALSE,Active +GARD:8604,Legacy,GARD,,,,,,,,,,,,Acanthoma,TRUE,FALSE,Active +GARD:8605,Active,Orphanet,ORPHA:91385,Group of disorders,[Clinical group],Acquired angioedema,"[AAE, Acquired C1 inhibitor deficiency, Acquired angioneurotic edema, Acquired bradykinine-induced angioedema, Acquired non histamine-induced angioedema]",A rare disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.,[300909],,,,,Acquired angioedema,TRUE,FALSE,Active +GARD:8606,Active,Orphanet,ORPHA:99742,Disorder,[Malformation syndrome],Amish lethal microcephaly,,"A very rare syndrome characterized by extreme microcephaly and early death, within the first year.",[607196],,,,,Amish lethal microcephaly,TRUE,FALSE,Active +GARD:8607,Legacy,GARD,,,,,,,,,,,,Familial partial paralysis,TRUE,FALSE,Active +GARD:8609,Active,Orphanet,ORPHA:2032,Disorder,[Disease],Idiopathic pulmonary fibrosis,[IPF],"An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause.","[178500, 616371, 616373]",,,,,Idiopathic pulmonary fibrosis,TRUE,FALSE,Active +GARD:8610,Active,Orphanet,ORPHA:199282,Disorder,[Disease],Harlequin syndrome,[Progressive isolated segmental anhidrosis],"Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.",,,,,,Harlequin syndrome,TRUE,FALSE,Active +GARD:8612,Legacy,GARD,,,,,,,,,,,,Primary hyperparathyroidism,TRUE,FALSE,Active +GARD:8614,Active,Orphanet,ORPHA:232,Disorder,[Disease],Sickle cell anemia,,"A severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events.",[603903],,,,,Sickle cell anemia,TRUE,FALSE,Active +GARD:8615,Legacy,GARD,,,,,,,,,,,,Paget disease of bone,FALSE,FALSE,Active +GARD:8616,Active,Orphanet,ORPHA:2467,Group of disorders,[Clinical group],Systemic mastocytosis,,"A heterogeneous group of rare, acquired and chronic hematological malignancies related to an abnormal accumulation/proliferation of neoplastic mast cells (MCs) in one or several organs, mainly the bone marrow (BM), associated frequently with skin involvement.",,,,,,Systemic mastocytosis,TRUE,FALSE,Active +GARD:8618,Active,Orphanet,ORPHA:824,Disorder,[Disease],Primary myelofibrosis,"[Agnogenic myeloid metaplasia, Idiopathic myelofibrosis, Myelofibrosis with myeloid metaplasia, Osteomyelofibrosis]","A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.",[254450],,,,,Primary myelofibrosis,TRUE,FALSE,Active +GARD:8620,Legacy,GARD,,,,,,,,,,,,Glomus vagale tumor,TRUE,FALSE,Active +GARD:8621,Active,Orphanet,ORPHA:39044,Disorder,[Disease],Uveal melanoma,"[Choroidal melanoma, Iris melanoma]","Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.","[606661, 155720, 606660]",,,,,Intraocular melanoma,TRUE,FALSE,Active +GARD:8622,Active,Orphanet,ORPHA:169105,Disorder,[Disease],Good syndrome,[Thymoma-immunodeficiency syndrome],"Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.",,,,,,Immunodeficiency with thymoma,TRUE,FALSE,Active +GARD:8623,Active,Orphanet,ORPHA:2521,Disorder,[Malformation syndrome],Microcephaly-cleft palate-abnormal retinal pigmentation syndrome,,"Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.",,,,,,Halal syndrome,TRUE,FALSE,Active +GARD:8625,Active,Orphanet,ORPHA:33355,Disorder,[Disease],Reticular dysgenesis,"[AK2 deficiency, Congenital aleukocytosis, De Vaal disease, Generalized hematopoietic hypoplasia, SCID with leukopenia, Severe combined immunodeficiency with leukopenia]",Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.,[267500],,,,,Reticular dysgenesis,TRUE,FALSE,Active +GARD:8627,Legacy,GARD,,,,,,,,,,,,Krukenberg carcinoma,TRUE,FALSE,Active +GARD:8629,Legacy,GARD,,,,,,,,,,,,Acute hemorrhagic leukoencephalitis,TRUE,FALSE,Active +GARD:863,Legacy,GARD,,,,,,,,,,,,IgA nephropathy,TRUE,FALSE,Active +GARD:8630,Legacy,GARD,,,,,,,,,,,,Chromosome 10q duplication,TRUE,FALSE,Active +GARD:8631,Active,Orphanet,ORPHA:1598,Disorder,[Disease],Monosomy 18p,"[18p- syndrome, De Grouchy syndrome]",Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.,[146390],,,,,Chromosome 18p deletion,TRUE,FALSE,Active +GARD:8635,Legacy,GARD,,,,,,,,,,,,2-hydroxyethyl methacrylate sensitization,TRUE,FALSE,Active +GARD:8638,Active,Orphanet,ORPHA:86851,Group of disorders,[Category],Acute leukemia of ambiguous lineage,"[Acute leukemia of indeterminate lineage, Hybrid acute leukemia, Mixed lineage acute leukemia]",,[601626],,,,,Acute leukemia of ambiguous lineage,TRUE,FALSE,Active +GARD:8639,Active,Orphanet,ORPHA:83597,Disorder,[Disease],Acute disseminated encephalomyelitis,"[ADEM, Acute disseminated encephalitis]",A demyelinating disorder of the central nervous system.,,,,,,Acute disseminated encephalomyelitis,TRUE,FALSE,Active +GARD:8640,Active,Orphanet,ORPHA:284454,Disorder,[Disease],Acute zonal occult outer retinopathy,[AZOOR],"A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal pigment epithelial disturbances tend to develop over time. Individuals also often complain of distortion of central vision, photophobia and difficulty with night vision, with more advanced cases reporting loss of peripheral vision.",,,,,,Acute zonal occult outer retinopathy,TRUE,FALSE,Active +GARD:8641,Legacy,GARD,,,,,,,,,,,,Adnexal spiradenoma/cylindroma of a sweat gland,TRUE,FALSE,Active +GARD:8642,Legacy,GARD,,,,,,,,,,,,Granulosa cell tumor of the ovary,TRUE,FALSE,Active +GARD:8644,Active,Orphanet,ORPHA:210122,Disorder,[Disease],Congenital alveolar capillary dysplasia,"[ACDMPV, Alveolar capillary dysplasia with misalignment of pulmonary veins, Alveolar capillary dysplasia with misalignment of pulmonary vessels]",Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.,[265380],,,,,Alveolar capillary dysplasia,TRUE,FALSE,Active +GARD:8646,Legacy,GARD,,,,,,,,,,,,Aneurysmal bone cysts,TRUE,FALSE,Active +GARD:8648,Legacy,GARD,,,,,,,,,,,,Desmoplastic infantile ganglioglioma,TRUE,FALSE,Active +GARD:8649,Legacy,GARD,,,,,,,,,,,,Benign eccrine spiradenoma,TRUE,FALSE,Active +GARD:8650,Legacy,GARD,,,,,,,,,,,,Embryonal sarcoma,TRUE,FALSE,Active +GARD:8651,Legacy,GARD,,,,,,,,,,,,Enlarged vestibular aqueduct syndrome,TRUE,FALSE,Active +GARD:8653,Active,Orphanet,ORPHA:90000,Disorder,[Disease],Erythema elevatum diutinum,,"Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.",,,,,,Erythema elevatum diutinum,TRUE,FALSE,Active +GARD:8655,Legacy,GARD,,,,,,,,,,,,Familial interstitial fibrosis,TRUE,FALSE,Retired +GARD:8658,Legacy,GARD,,,,,,,,,,,,Glomus tympanicum tumor,TRUE,FALSE,Active +GARD:8659,Active,Orphanet,ORPHA:93323,Disorder,[Morphological anomaly],Fibular hemimelia,"[Congenital longitudinal deficiency of the fibula, Fibular longitudinal meromelia]","A rare congenital limb malformation characterized by complete or partial absence of the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot.",,,,,,Fibular hemimelia,TRUE,FALSE,Active +GARD:8660,Active,Orphanet,ORPHA:221117,Disorder,[Disease],Gerstmann syndrome,,"Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.",,,,,,Gerstmann syndrome,TRUE,FALSE,Active +GARD:8661,Active,Orphanet,ORPHA:2368,Disorder,[Morphological anomaly],Gastroschisis,[Laparoschisis],"A rare abdominal wall malformation characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac.",[230750],,,,,Gastroschisis,TRUE,FALSE,Active +GARD:8662,Legacy,GARD,,,,,,,,,,,,Osteodysplasty precocious of Danks Mayne and Kozlowski,TRUE,FALSE,Active +GARD:8663,Active,Orphanet,ORPHA:114,Disorder,[Malformation syndrome],Auriculoosteodysplasia,,"A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.",[109000],,,,,Auriculoosteodysplasia,TRUE,FALSE,Active +GARD:8667,Legacy,GARD,,,,,,,,,,,, Chondrodysplasia,TRUE,FALSE,Retired +GARD:8668,Legacy,GARD,,,,,,,,,,,,Chromosome 22q deletion,TRUE,FALSE,Active +GARD:8669,Legacy,GARD,,,,,,,,,,,,Chromosome 1q deletion,TRUE,FALSE,Active +GARD:867,Active,Orphanet,ORPHA:133,Disorder,[Disease],Chronic beryllium disease,"[Berylliosis, Chronic berylliosis, Chronic beryllium lung disease]","A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.",,,,,,Beryllium disease,TRUE,FALSE,Active +GARD:8672,Active,Orphanet,ORPHA:261494,Disorder,[Malformation syndrome],Kleefstra syndrome,,"A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial appearance with a spectrum of additional clinical features.",[610253],,,,,Kleefstra syndrome,TRUE,FALSE,Active +GARD:8676,Legacy,GARD,,,,,,,,,,,,Weber syndrome,TRUE,FALSE,Active +GARD:8677,Legacy,GARD,,,,,,,,,,,,Y chromosome pericentric inversion,TRUE,FALSE,Retired +GARD:8680,Legacy,GARD,,,,,,,,,,,,Benign mesonephroma,TRUE,FALSE,Active +GARD:8683,Active,Orphanet,ORPHA:79235,Subtype of disorder,[Clinical subtype],Crigler-Najjar syndrome type 2,"[Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2, Bilirubin-UGT deficiency type 2]","A form of Crigler Najjar syndrome (CNS), a rare hereditary disorder of bilirubin metabolism, characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated jaundice with a risk of developing bilirubin encephalopathy later in life due to triggers such as stress or infection.",[606785],,,,,Crigler-Najjar syndrome type 2,TRUE,FALSE,Active +GARD:8684,Legacy,GARD,,,,,,,,,,,,Symmastia,TRUE,FALSE,Active +GARD:8685,Legacy,GARD,,,,,,,,,,,,Stachybotrys chartarum,TRUE,FALSE,Active +GARD:8686,Active,Orphanet,ORPHA:3261,Disorder,[Disease],Autoimmune lymphoproliferative syndrome,"[ALPS, Canale-Smith syndrome]","A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.","[603909, 618534, 601859, 615559]",,,,,Autoimmune lymphoproliferative syndrome,TRUE,FALSE,Active +GARD:8687,Legacy,GARD,,,,,,,,,,,,Non-A-E hepatitis,TRUE,FALSE,Active +GARD:8689,Active,Orphanet,ORPHA:94075,Group of disorders,[Category],Severe immune-mediated enteropathy,"[Autoimmune enteropathy, Immune-mediated protracted diarrhea of infancy]","Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.",,,,,,Autoimmune enteropathy,TRUE,FALSE,Active +GARD:869,Active,Orphanet,ORPHA:118,Disorder,[Disease],Beta-mannosidosis,[Beta-mannosidase deficiency],"Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.",[248510],,,,,"Mannosidosis, beta A, lysosomal",TRUE,FALSE,Active +GARD:8692,Active,Orphanet,ORPHA:1489,Disorder,[Disease],Whooping cough,[Pertussis],"A rare bacterial infectious disease characterized by severe coughing paroxysms with inspiratory whooping and posttussive vomiting, caused by infection with Bordetella pertussis. After a variable incubation time, the clinical course progresses through a catarrhal stage with sore throat, nasal congestion, rhinorrhea, and mild progressive dry cough, a paroxysmal stage with the typical paroxysmal coughing, and finally convalescence. Disease duration is usually 2-3 months, often with milder presentation in adolescents and adults than in infants and children.",,,,,,Whooping cough,TRUE,FALSE,Active +GARD:8694,Active,Orphanet,ORPHA:216796,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 1,"[Adair-Dighton syndrome, Mild osteogenesis imperfecta, Non-deforming osteogenesis imperfecta, OI type 1, Van der Hoeve syndrome]","A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures), normal height or short stature (typically between 0 and -2.0 SD scores), mild (Cobb angle <30 degrees) or no scoliosis, blue sclera, and in dentinogenesis imperfecta and mild long bone bowing bone deformities.","[166230, 166200]",,,,,Osteogenesis imperfecta type I,TRUE,FALSE,Active +GARD:8695,Active,Orphanet,ORPHA:216812,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 3,"[OI type 3, Progressive deforming osteogenesis imperfecta, Severe osteogenesis imperfecta]","A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta.","[613982, 614856, 613848, 259440, 616229, 610915, 615220, 610968, 259420, 610682]",,,,,Osteogenesis imperfecta type III,TRUE,FALSE,Active +GARD:8696,Active,Orphanet,ORPHA:216820,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 4,[OI type 4],"A moderately severe form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests from infancy as susceptibility to bone fractures, short stature, mild to moderate scoliosis in most, gray-blue or white sclera, and dentinogenesis imperfecta.","[613982, 259440, 166220, 615220, 610968, 616507, 613849, 615066, 610682]",,,,,Osteogenesis imperfecta type IV,TRUE,FALSE,Active +GARD:8697,Legacy,GARD,,,,,,,,,,,,Osteogenesis imperfecta type 1A,TRUE,FALSE,Retired +GARD:8698,Active,Orphanet,ORPHA:53697,Disorder,[Malformation syndrome],Gnathodiaphyseal dysplasia,[GDD],"Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.",[166260],,,,,Gnathodiaphyseal dysplasia,TRUE,FALSE,Active +GARD:8699,Active,Orphanet,ORPHA:216828,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 5,[OI type 5],"A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta.",[610967],,,,,Osteogenesis imperfecta type V,TRUE,FALSE,Active +GARD:87,Active,Orphanet,ORPHA:568,Disorder,[Malformation syndrome],"Microphthalmia, Lenz type",[Lenz microphthalmia],"A rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.","[300166, 309800]",,,,,Lenz microphthalmia syndrome,TRUE,FALSE,Active +GARD:870,Legacy,GARD,,,,,,,,,,,,Beta-sarcoglycanopathy,TRUE,FALSE,Active +GARD:8700,Active,Orphanet+OMIM,OMIM:613982,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type vi",,"Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder ({3:Glorieux et al., 2002}; {1:Becker et al., 2011}).",[613982],"[216820, 216812]","[Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[8695, 8696]",,Osteogenesis imperfecta type VI,TRUE,FALSE,Active +GARD:8701,Active,Orphanet+OMIM,OMIM:610682,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type vii","[Oi, type vii, osteogenesis imperfecta, type iib, formerly]","Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by {2:Barnes et al., 2006}).",[610682],"[216820, 216804, 216812]","[Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[10142, 8695, 8696]",,Osteogenesis imperfecta type VII,TRUE,FALSE,Active +GARD:8702,Active,Orphanet,ORPHA:2134,Disorder,[Disease],Atypical hemolytic uremic syndrome,"[Atypical HUS, aHUS]","A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.","[235400, 615008, 612922, 612926, 612923, 612924, 609814, 612925]",,,,,Atypical hemolytic uremic syndrome,TRUE,FALSE,Active +GARD:8703,Active,Orphanet,ORPHA:140989,Disorder,[Disease],Primary angiitis of the central nervous system,"[Isolated angiitis of the central nervous system, PACNS, PCNSV, Primary central nervous system vasculitis, Primary vasculitis of the central nervous system]","A rare, medium or small vessel vasculitis characterized by focal and/or diffuse neurologic symptoms due to a documented arteritic process in the central nervous system, in the absence of other identified underlying cause (infectious, systemic, other neurologic diseases, etc.). It presents with non-specific symptoms of headache, stroke or transient ischemic attacks with cognitive impairment, hemiplegia, weakness, and rarely, with cranial nerve involvement, seizures and ataxia.",,,,,,Primary angiitis of the central nervous system,TRUE,FALSE,Active +GARD:8704,Legacy,GARD,,,,,,,,,,,,Benign angiitis of the central nervous system,TRUE,FALSE,Active +GARD:8705,Legacy,GARD,,,,,,,,,,,,Klinefelter syndrome,FALSE,FALSE,Active +GARD:8706,Legacy,GARD,,,,,,,,,,,,Stewart Treves syndrome,TRUE,FALSE,Active +GARD:8707,Active,Orphanet,ORPHA:93322,Disorder,[Morphological anomaly],Tibial hemimelia,"[Congenital absence of tibia, Congenital aplasia and dysplasia of the tibia with intact fibula, Congenital longitudinal deficiency of the tibia, Tibial longitudinal meromelia]",A rare congenital limb formation characterized by partial or complete absence of the tibia with a relatively intact fibula.,[275220],,,,,Absence of Tibia,TRUE,FALSE,Active +GARD:8708,Legacy,GARD,,,,,,,,,,,,Amyloid neuropathy,TRUE,FALSE,Active +GARD:8709,Active,Orphanet,ORPHA:86789,Disorder,[Morphological anomaly],Patella aplasia/hypoplasia,[PTLAH],Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.,[168860],,,,,Absent patella,TRUE,FALSE,Active +GARD:871,Active,Orphanet,ORPHA:848,Disorder,[Disease],Beta-thalassemia,,Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).,"[613985, 603902]",,,,,Beta-thalassemia,TRUE,FALSE,Active +GARD:8710,Legacy,GARD,,,,,,,,,,,,Passos-Bueno syndrome,TRUE,FALSE,Retired +GARD:8711,Active,Orphanet,ORPHA:268129,Disorder,[Disease],Spheroid body myopathy,,"Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.",[182920],,,,,Spheroid body myopathy,TRUE,FALSE,Active +GARD:8712,Legacy,GARD,,,,,,,,,,,,Hemoglobinemia,TRUE,FALSE,Retired +GARD:8713,Active,Orphanet,ORPHA:93296,Subtype of disorder,[Clinical subtype],Achondrogenesis type 2,"[Achondrogenesis, Langer-Saldino type]","A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.",[200610],,,,,Achondrogenesis type 2,TRUE,FALSE,Active +GARD:8717,Active,Orphanet,ORPHA:166272,Disorder,[Malformation syndrome],Odontochondrodysplasia,"[Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome, Goldblatt chondrodysplasia, Goldblatt syndrome, ODCD]","A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported.",[184260],,,,,Spondylometaphyseal dysplasia with dentinogenesis imperfecta,TRUE,FALSE,Active +GARD:8719,Active,Orphanet,ORPHA:168552,Disorder,[Disease],Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,,"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome is a rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.",[607543],,,,,Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism,TRUE,FALSE,Active +GARD:872,Active,Orphanet,ORPHA:134,Disorder,[Disease],Beta-ketothiolase deficiency,"[3-ketothiolase deficiency, 3-oxothiolase deficiency, Alpha methylacetoacetic aciduria, Alpha-methyl-acetoacetyl-CoA thiolase deficiency, Mitochondrial acetoacetyl-coenzyme A thiolase deficiency, T2 deficiency]","A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence.",[203750],,,,,Beta ketothiolase deficiency,TRUE,FALSE,Active +GARD:8720,Active,Orphanet,ORPHA:168549,Disorder,[Disease],Axial spondylometaphyseal dysplasia,,"Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.",[602271],,,,,Axial spondylometaphyseal dysplasia,TRUE,FALSE,Active +GARD:8721,Active,Orphanet,ORPHA:98809,Disorder,[Disease],Paroxysmal kinesigenic dyskinesia,"[Familial PKD, Familial paroxysmal kinesigenic dyskinesia, Paroxysmal kinesigenic choreathetosis]","Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.","[611031, 128200]",,,,,Paroxysmal kinesigenic choreoathetosis,TRUE,FALSE,Active +GARD:8722,Active,Orphanet,ORPHA:98810,Disorder,[Disease],Paroxysmal non-kinesigenic dyskinesia,[Paroxystic non-kinesigenic choreoathetosis],"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.","[611147, 118800]",,,,,Paroxysomal nonkinesigenic dyskinesia,TRUE,FALSE,Active +GARD:8723,Active,Orphanet,ORPHA:86841,Disorder,[Disease],Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,[5q- syndrome],"A rare myelodysplastic syndrome characterized by macrocytic anemia (with or without other cytopenias and/or thrombocytosis), and with del(5q) occurring either in isolation, or with one other cytogenetic abnormality, other than monosomy 7 or del(7q). The bone marrow is typically hypercellular with erythroid hypoplasia and increased numbers of megakaryocytes, which show non-lobated and hypolobated nuclei. Myeloblasts constitute less than 5% of the nucleated bone marrow cells and less than 1% of the peripheral blood leukocytes. Auer rods are absent. Ring sideroblasts may be observed. Patients present with anemia and often thrombocytosis, while thrombocytopenia or pancytopenia are uncommon. Transformation to acute myeloid leukemia may occur in a small number of patients.",[153550],,,,,5q- syndrome,TRUE,FALSE,Active +GARD:8724,Legacy,GARD,,,,,,,,,,,,"Torticollis, familial",TRUE,FALSE,Retired +GARD:8729,Legacy,GARD,,,,,,,,,,,,Neurosyphilis,TRUE,FALSE,Active +GARD:873,Active,Orphanet,ORPHA:610,Disorder,[Disease],Bethlem myopathy,[Benign autosomal dominant myopathy],Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.,"[616471, 158810]",,,,,Bethlem myopathy,TRUE,FALSE,Active +GARD:8730,Legacy,GARD,,,,,,,,,,,,Syphilitic myelopathy,TRUE,FALSE,Active +GARD:8731,Legacy,GARD,,,,,,,,,,,,Syphilitic aseptic meningitis,TRUE,FALSE,Active +GARD:8732,Active,Orphanet,ORPHA:98879,Disorder,[Disease],Hemophilia B,"[Christmas disease, Congenital F9 deficiency, Congenital factor IX deficiency]",A rare hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.,[306900],,,,,Hemophilia B,TRUE,FALSE,Active +GARD:8735,Active,Orphanet,ORPHA:247667,Subtype of disorder,[Clinical subtype],Childhood-onset hypophosphatasia,"[Childhood-onset Rathbun disease, Childhood-onset phosphoethanolaminuria]","A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.",[241510],,,,,Childhood hypophosphatasia,TRUE,FALSE,Active +GARD:8737,Active,Orphanet,ORPHA:33208,Disorder,[Disease],Idiopathic hypersomnia,[Idiopathic excessive sleepiness],"A rare neurologic disease characterized by an excessive daytime sleepiness with long and unrefreshing naps, and/or prolonged and undisturbed nocturnal sleep, impaired daytime alertness, and/or sleep inertia (ie, great difficulty in waking up after sleep) and where other causes have been excluded.",,,,,,Idiopathic hypersomnia,TRUE,FALSE,Active +GARD:8740,Legacy,GARD,,,,,,,,,,,,"Pulmonary artery, unilateral absence of (UAPA)",FALSE,FALSE,Retired +GARD:8741,Legacy,GARD,,,,,,,,,,,,Unilateral absence of a pulmonary artery,TRUE,FALSE,Active +GARD:8742,Legacy,GARD,,,,,,,,,,,,Limbic encephalitis,TRUE,FALSE,Active +GARD:8743,Active,Orphanet+OMIM,OMIM:603194,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 2","[Meckel-gruber syndrome, type 2]","Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 ({249000}).",[603194],[564],[Meckel syndrome],[3436],,Meckel syndrome type 2,TRUE,FALSE,Active +GARD:8744,Active,Orphanet+OMIM,OMIM:607361,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 3","[Meckel-gruber syndrome, type 3]","Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by {7:Smith et al., 2006}).\n\nFor a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 ({249000}).",[607361],[564],[Meckel syndrome],[3436],,Meckel syndrome type 3,TRUE,FALSE,Active +GARD:8745,Legacy,GARD,,,,,,,,,,,,Marinesco-Sjogren-like syndrome (MSLS),TRUE,FALSE,Active +GARD:8746,Legacy,GARD,,,,,,,,,,,,"Sjogren's syndrome, juvenile, secondary to autoimmune disease",TRUE,FALSE,Active +GARD:8748,Legacy,GARD,,,,,,,,,,,,"Camurati Engelmann disease, type 2",TRUE,FALSE,Active +GARD:8749,Legacy,GARD,,,,,,,,,,,,Central pontine myelinolysis,FALSE,FALSE,Active +GARD:875,Legacy,GARD,,,,,,,,,,,,Bhaskar Jagannathan syndrome,TRUE,FALSE,Retired +GARD:8750,Legacy,GARD,,,,,,,,,,,,"Coxa vara, congenital",TRUE,FALSE,Active +GARD:8754,Active,Orphanet,ORPHA:1426,Disorder,[Disease],Greenberg dysplasia,"[HEM dysplasia, Hydrops-ectopic calcification-motheaten syndrome, Skeletal dysplasia, Greenberg type]","Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.",[215140],,,,,Greenberg dysplasia,TRUE,FALSE,Active +GARD:8755,Active,Orphanet,ORPHA:1135,Disorder,[Malformation syndrome],Arrhinia-choanal atresia-microphthalmia syndrome,,"A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.",[603457],,,,,Arhinia choanal atresia microphthalmia,TRUE,FALSE,Active +GARD:8756,Active,Orphanet,ORPHA:1187,Disorder,[Disease],Lethal ataxia with deafness and optic atrophy,"[Arts syndrome, Lethal ataxia with hearing loss and optic atrophy]","Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.",[301835],,,,,Arts syndrome,TRUE,FALSE,Active +GARD:8757,Active,Orphanet,ORPHA:64742,Disorder,[Disease],Pleuropulmonary blastoma,,"A rare respiratory tumor characterized by an aggressive, malignant, dysontogenetic neoplasm of intrathoracic (pulmonary, pleural, or combined) mesenchyme occurring in young children. Three subtypes can be distinguished, type 1 being purely cystic, type 2 cystic and solid, and type 3 purely solid. Type 1 lesions may progress to the more malignant types 2 and 3, which are associated with central nervous system and bone metastasis. The tumor is often part of pleuropulmonary blastoma family tumor and dysplasia syndrome. It can also be associated with multilocular cystic nephroma or other neoplasms. Patients usually present with dyspnea or other respiratory problems, and sometimes pneumothorax.",[601200],,,,,Pleuropulmonary blastoma,TRUE,FALSE,Active +GARD:8759,Active,Orphanet,ORPHA:99922,Disorder,[Disease],Ocular cicatricial pemphigoid,,"A rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease.",,,,,,Ocular cicatricial pemphigoid,TRUE,FALSE,Active +GARD:8761,Legacy,GARD,,,,,,,,,,,,Keshan disease,TRUE,FALSE,Active +GARD:878,Legacy,GARD,,,,,,,,,,,,Bidirectional tachycardia,TRUE,FALSE,Active +GARD:88,Active,Orphanet,ORPHA:2900,Disorder,[Malformation syndrome],Leri pleonosteosis,,"Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.",[151200],,,,,Leri pleonosteosis,TRUE,FALSE,Active +GARD:881,Legacy,GARD,,,,,,,,,,,,Biemond syndrome type 1,TRUE,FALSE,Active +GARD:882,Active,Orphanet,ORPHA:141333,Disorder,[Disease],Biemond syndrome type 2,[Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome],"Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.",[210350],,,,,Biemond syndrome 2,TRUE,FALSE,Active +GARD:883,Legacy,GARD,,,,,,,,,,,,Biermer disease,TRUE,FALSE,Draft +GARD:884,Active,Orphanet,ORPHA:2695,Disorder,[Malformation syndrome],Bifid nose,,Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.,"[210400, 109740]",,,,,Bifid nose,TRUE,FALSE,Active +GARD:885,Legacy,GARD,,,,,,,,,,,,Bilateral renal agenesis dominant type,TRUE,FALSE,Active +GARD:886,Legacy,GARD,,,,,,,,,,,,Biliary atresia extrahepatic,TRUE,FALSE,Retired +GARD:887,Legacy,GARD,,,,,,,,,,,,Biliary atresia intrahepatic non syndromic form,TRUE,FALSE,Active +GARD:888,Legacy,GARD,,,,,,,,,,,,Biliary atresia intrahepatic syndromic form,TRUE,FALSE,Active +GARD:89,Legacy,GARD,,,,,,,,,,,,Gastric Non-Hodgkin Lymphoma,TRUE,FALSE,Active +GARD:892,Legacy,GARD,,,,,,,,,,,,Billet Bear syndrome,TRUE,FALSE,Active +GARD:893,Active,Orphanet,ORPHA:3304,Disorder,[Malformation syndrome],Fallot complex-intellectual disability-growth delay syndrome,[Bindewald-Ulmer-Müller syndrome],"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.",[601127],,,,,Fallot complex with severe mental and growth retardation,TRUE,FALSE,Active +GARD:894,Active,Orphanet,ORPHA:79241,Disorder,[Disease],Biotinidase deficiency,"[Juvenile-onset multiple carboxylase deficiency, Late-onset multiple carboxylase deficiency]","A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.",[253260],,,,,Biotinidase deficiency,TRUE,FALSE,Active +GARD:895,Active,Orphanet,ORPHA:2617,Disorder,[Malformation syndrome],"Microcephalic primordial dwarfism, Montreal type","[Bird-headed dwarfism, Montreal type]","A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.",[210700],,,,,"Microcephalic primordial dwarfism, Montreal type",TRUE,FALSE,Active +GARD:897,Active,Orphanet,ORPHA:2213,Disorder,[Malformation syndrome],Hypertelorism-microtia-facial clefting syndrome,"[Bixler-Christian-Gorlin syndrome, HMC syndrome]","Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.",[239800],,,,,Bixler Christian Gorlin syndrome,TRUE,FALSE,Active +GARD:898,Legacy,GARD,,,,,,,,,,,,Blaichman syndrome,TRUE,FALSE,Retired +GARD:901,Legacy,GARD,,,,,,,,,,,,Blepharofacioskeletal syndrome,TRUE,FALSE,Retired +GARD:902,Legacy,GARD,,,,,,,,,,,,Blepharo naso facial syndrome Van maldergem type,TRUE,FALSE,Active +GARD:905,Active,Orphanet,ORPHA:2057,Disorder,[Malformation syndrome],Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,[Frydman-Cohen-Karmon syndrome],"A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.",[210745],,,,,"Blepharophimosis with ptosis, syndactyly, and short stature",TRUE,FALSE,Active +GARD:91,Legacy,GARD,,,,,,,,,,,,"Malignant melanoma, childhood",TRUE,FALSE,Active +GARD:9118,Active,Orphanet,ORPHA:3337,Disorder,[Disease],Primary Fanconi renotubular syndrome,"[DeToni-Debré-Fanconi syndrome, Primary Fanconi renal syndrome]","A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening.","[618913, 134600, 615605, 613388]",,,,,Fanconi syndrome,TRUE,FALSE,Active +GARD:9119,Active,Orphanet,ORPHA:984,Disorder,[Morphological anomaly],Pulmonary agenesis,,"A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.",,,,,,Lung agenesis,TRUE,FALSE,Active +GARD:912,Active,Orphanet,ORPHA:1259,Disorder,[Disease],Blepharoptosis-myopia-ectopia lentis syndrome,,"A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.",[110150],,,,,Blepharoptosis myopia ectopia lentis,TRUE,FALSE,Active +GARD:9120,Legacy,GARD,,,,,,,,,,,,Fanconis syndrome,TRUE,FALSE,Retired +GARD:9124,Active,Orphanet,ORPHA:861,Disorder,[Malformation syndrome],Treacher-Collins syndrome,"[Franceschetti-Klein syndrome, Mandibulofacial dysostosis without limb anomalies]","A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal.","[613717, 154500, 248390, 618939]",,,,,Treacher Collins syndrome,TRUE,FALSE,Active +GARD:9125,Active,Orphanet+OMIM,OMIM:248390,Subtype of disorder,[Malformation syndrome subtype],Treacher collins syndrome 3,"[Mandibulofacial dysostosis, treacher collins type, autosomal recessive]","Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss ({1:Dauwerse et al., 2011}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 ({154500}).",[248390],[861],[Treacher-Collins syndrome],[9124],,Treacher Collins syndrome 3,TRUE,FALSE,Active +GARD:9126,Active,Orphanet,ORPHA:990,Disorder,[Malformation syndrome],Agnathia-holoprosencephaly-situs inversus syndrome,,"An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.",[202650],,,,,Dysgnathia complex,TRUE,FALSE,Active +GARD:9128,Active,Orphanet,ORPHA:98482,Group of disorders,[Category],Idiopathic inflammatory myopathy,"[IMM, Idiopathic inflammatory myositis]",,,,,,,Idiopathic inflammatory myopathy,TRUE,FALSE,Active +GARD:9129,Legacy,GARD,,,,,,,,,,,,"Minicore myopathy, antenatal onset, with arthrogryposis",TRUE,FALSE,Active +GARD:9130,Legacy,GARD,,,,,,,,,,,,Multicore disease,TRUE,FALSE,Active +GARD:9131,Legacy,GARD,,,,,,,,,,,,Infective myositis,TRUE,FALSE,Active +GARD:9132,Legacy,GARD,,,,,,,,,,,,Adult progressive spinal muscular atrophy Aran Duchenne type,TRUE,FALSE,Active +GARD:9133,Legacy,GARD,,,,,,,,,,,,Pseudomyotonia,TRUE,FALSE,Retired +GARD:9134,Legacy,GARD,,,,,,,,,,,,Congenital myotonic dystrophy,TRUE,FALSE,Active +GARD:9135,Legacy,GARD,,,,,,,,,,,,Muscular Dystrophy - Late Onset,TRUE,FALSE,Draft +GARD:9136,Legacy,GARD,,,,,,,,,,,,Ocular Muscular Dystrophy,TRUE,FALSE,Active +GARD:9137,Legacy,GARD,,,,,,,,,,,,Ophthalmoplegic Muscular dystrophy,TRUE,FALSE,Retired +GARD:9138,Active,Orphanet,ORPHA:97242,Group of disorders,[Category],Congenital muscular dystrophy,"[CMD, MDC]","Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms).",,,,,,Congenital muscular dystrophy,TRUE,FALSE,Active +GARD:9139,Legacy,GARD,,,,,,,,,,,,Progestogen hypersensitivity,TRUE,FALSE,Active +GARD:914,Active,Orphanet,ORPHA:50945,Disorder,[Malformation syndrome],Blomstrand lethal chondrodysplasia,"[BLC, BOCD, Blomstrand chondrodysplasia, Blomstrand osteochondrodysplasia, Chondrodysplasia, Blomstrand type]","Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.",[215045],,,,,Chondrodysplasia Blomstrand type,TRUE,FALSE,Active +GARD:9142,Active,Orphanet,ORPHA:2070,Disorder,[Disease],Eosinophilic gastroenteritis,"[EGE, Eosinophilic enteritis, Eosinophilic gastroenterocolitis]","A rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.",,,,,,Eosinophilic gastroenteritis,TRUE,FALSE,Active +GARD:9143,Legacy,GARD,,,,,,,,,,,,Retinoschisis of Fovea,TRUE,FALSE,Active +GARD:9144,Legacy,GARD,,,,,,,,,,,,Retinoschisis autosomal dominant,TRUE,FALSE,Active +GARD:9145,Active,Orphanet,ORPHA:171871,Subtype of disorder,[Clinical subtype],Renal pseudohypoaldosteronism type 1,"[Autosomal dominant PHA1, Autosomal dominant pseudohypoaldosteronism type 1, Renal PHA1]","A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels.",[177735],,,,,Autosomal dominant pseudohypoaldosteronism type 1,TRUE,FALSE,Active +GARD:9146,Active,Orphanet,ORPHA:1340,Disorder,[Malformation syndrome],Cardiofaciocutaneous syndrome,[CFC syndrome],"A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability.","[615280, 615278, 615279, 115150]",,,,,Cardiofaciocutaneous syndrome,TRUE,FALSE,Active +GARD:9147,Legacy,GARD,,,,,,,,,,,,Minimal change disease,TRUE,FALSE,Active +GARD:9148,Legacy,GARD,,,,,,,,,,,,Pelger-Huet anomaly,TRUE,FALSE,Active +GARD:9149,Active,Orphanet+OMIM,OMIM:180100,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 1,,,[180100],[791],[Retinitis pigmentosa],[5694],,Retinitis pigmentosa 1,TRUE,FALSE,Active +GARD:915,Active,Orphanet,ORPHA:125,Disorder,[Disease],Bloom syndrome,[BSyn],"Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.",[210900],,,,,Bloom syndrome,TRUE,FALSE,Active +GARD:9151,Active,Orphanet+OMIM,OMIM:210210,Subtype of disorder,[Disease subtype],3-methylcrotonyl-coa carboxylase 2 deficiency,"[3-methylcrotonylglycinuria ii, Mcc2 deficiency, methylcrotonylglycinuria, type ii]",,[210210],[6],[3-methylcrotonyl-CoA carboxylase deficiency],[10954],,3 alpha methylcrotonyl-CoA carboxylase 2 deficiency,TRUE,FALSE,Retired +GARD:9152,Active,Orphanet,ORPHA:90791,Disorder,[Disease],Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,[CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency],"A rare form of congenital adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms, including glucocorticoid and mineralocorticoid deficiencies in both sexes. Salt wasting can lead to dehydration and hypotension in the first few weeks of life. Affected males had undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. Females show normal or mildly virilized external genitalia (mild clitoromegaly, labial fusion) due to dehydroepiandrosterone (DHEA) accumulation and conversion to androgens by the normal HSD3B1.",[201810],,,,,3-beta-hydroxysteroid dehydrogenase deficiency,TRUE,FALSE,Active +GARD:9154,Legacy,GARD,,,,,,,,,,,,Acetyl CoA acetyltransferase 2 deficiency,TRUE,FALSE,Active +GARD:9155,Legacy,GARD,,,,,,,,,,,,"Mental retardation X-linked, South African type",TRUE,FALSE,Retired +GARD:9156,Active,Orphanet,ORPHA:85274,Disorder,[Malformation syndrome],Syndromic X-linked intellectual disability 7,"[MRXS7, X-linked intellectual disability, Ahmad type]","A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional varible manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.",[300218],,,,,Syndromic X-linked intellectual disability 7,TRUE,FALSE,Active +GARD:9157,Active,Orphanet,ORPHA:85273,Disorder,[Malformation syndrome],"X-linked intellectual disability, Abidi type",,"X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.",[300262],,,,,"X-linked intellectual disability, Abidi type",TRUE,FALSE,Active +GARD:9158,Active,Orphanet,ORPHA:53347,Disorder,[Disease],Brody myopathy,,"A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without ATP2A1 mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common.",[601003],,,,,Brody myopathy,TRUE,FALSE,Active +GARD:9159,Active,Orphanet+OMIM,OMIM:300018,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 2","[dosage-sensitive sex reversal, 46,xy sex reversal, dax1-related]",,[300018],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,Dosage-sensitive sex reversal,TRUE,FALSE,Active +GARD:916,Active,Orphanet,ORPHA:2768,Disorder,[Malformation syndrome],Blount disease,"[Infantile tibia vara, Osteochondrosis deformans tibiae, Tibia vara Blount]","Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.","[259200, 188700]",,,,,Blount disease,TRUE,FALSE,Active +GARD:9161,Active,Orphanet,ORPHA:79280,Subtype of disorder,[Clinical subtype],Alpha-N-acetylgalactosaminidase deficiency type 2,"[Adult-onset Alpha-N-acetylgalactosaminidase deficiency, Kanzaki disease, NAGA deficiency type 2, Schindler disease type 2]",A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.,[609242],,,,,Kanzaki disease,TRUE,FALSE,Active +GARD:9162,Legacy,GARD,,,,,,,,,,,,Fallopian tube cancer,TRUE,FALSE,Active +GARD:9163,Active,Orphanet,ORPHA:353298,Disorder,[Disease],Roifman syndrome,[Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome],"A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.",[616651],,,,,Roifman syndrome,TRUE,FALSE,Active +GARD:9164,Active,Orphanet,ORPHA:97238,Disorder,[Disease],Rippling muscle disease,,"Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.","[606072, 600332]",,,,,Rippling muscle disease,TRUE,FALSE,Active +GARD:9165,Active,Orphanet+OMIM,OMIM:600332,Subtype of disorder,[Disease subtype],Rippling muscle disease 1,,"For a phenotypic description and a discussion of genetic heterogeneity of rippling muscle disease, see RMD2 ({606072}).",[600332],[97238],[Rippling muscle disease],[9164],,"Rippling muscle disease, 1",TRUE,FALSE,Active +GARD:9166,Active,Orphanet+OMIM,OMIM:606282,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 24",,,[606282],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 24",TRUE,FALSE,Active +GARD:9167,Active,Orphanet+OMIM,OMIM:606346,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 22",,,[606346],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 22",TRUE,FALSE,Active +GARD:9168,Active,Orphanet,ORPHA:85195,Disorder,[Disease],Familial expansile osteolysis,"[Hereditary expansile polyostotic osteolytic dysplasia, McCabe disease]","A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant.",[174810],,,,,"Polyostotic osteolytic dysplasia, hereditary expansile",TRUE,FALSE,Active +GARD:9169,Active,Orphanet,ORPHA:97346,Subtype of disorder,[Clinical subtype],ADan amyloidosis,"[Familial dementia, Danish type]","A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.",[117300],,,,,"Dementia, familial Danish",TRUE,FALSE,Active +GARD:917,Active,Orphanet,ORPHA:16,Disorder,[Disease],Blue cone monochromatism,"[Atypical X-linked achromatopsia, Blue cone monochromacy, Color blindness, blue monocone monochromatic type, S cone monochromacy, S cone monochromatism, X-linked incomplete achromatopsia]","Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).",[303700],,,,,Blue cone monochromatism,TRUE,FALSE,Active +GARD:9170,Active,Orphanet,ORPHA:55654,Disorder,[Disease],Hypotrichosis simplex,[Hereditary hypotrichosis simplex],"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.","[278150, 615059, 607903, 604379, 614237, 615885, 614238, 605389, 618275]",,,,,Hypotrichosis simplex,TRUE,FALSE,Active +GARD:9171,Legacy,GARD,,,,,,,,,,,,Iris hypoplasia and glaucoma,TRUE,FALSE,Active +GARD:9172,Active,Orphanet+OMIM,OMIM:148700,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma i, striate, focal, or diffuse","[Keratosis palmoplantaris striata i, striate palmoplantar keratoderma i, keratoderma, palmoplantar, striate form i]","Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by {6:Hunt et al., 2001}). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported ({7:Keren et al., 2005}; {8:Milingou et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Keratosis Palmoplantaris Striata\n\nType II PPKS (PPKS2; {612908}) is caused by mutation in the DSP gene ({125647}) on chromosome 6.\n\nType III PPKS (PPKS3; {607654}) is caused by mutation in the keratin-1 gene (KRT1; {139350}) on chromosome 12q.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK ({144200}).\n\n{9:Nitoiu et al. (2014)} reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSG1 and DSP genes.",[148700],[50942],[Striate palmoplantar keratoderma],[15016],,Keratosis palmoplantaris striata 1,TRUE,FALSE,Active +GARD:9173,Active,Orphanet+OMIM,OMIM:607654,Subtype of disorder,[Disease subtype],Keratosis palmoplantaris striata iii,"[Striate palmoplantar keratoderma iii, keratoderma, palmoplantar, striate form iii]",,[607654],[50942],[Striate palmoplantar keratoderma],[15016],,Keratosis palmoplantaris striata 3,TRUE,FALSE,Active +GARD:9174,Active,Orphanet,ORPHA:306674,Disorder,[Disease],Kufor-Rakeb syndrome,[PARK9],"Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.",[606693],,,,,Parkinson disease type 9,TRUE,FALSE,Active +GARD:9175,Active,Orphanet,ORPHA:171695,Disorder,[Disease],Parkinsonian-pyramidal syndrome,[Pallidopyramidal syndrome],"Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).","[260300, 168100, 168601]",,,,,Pallidopyramidal syndrome,TRUE,FALSE,Active +GARD:9176,Active,Orphanet,ORPHA:69126,Disorder,[Disease],Pyogenic arthritis-pyoderma gangrenosum-acne syndrome,"[FRA, Familial recurrent arthritis, PAPA syndrome]","Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.",[604416],,,,,"Pyogenic arthritis, pyoderma gangrenosum and acne",TRUE,FALSE,Active +GARD:9177,Active,Orphanet,ORPHA:137776,Disorder,[Malformation syndrome],Lethal congenital contracture syndrome type 2,"[LCCS2, Multiple contracture syndrome, Israeli-Bedouin type]","Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.",[607598],,,,,Lethal congenital contracture syndrome 2,TRUE,FALSE,Active +GARD:9178,Active,Orphanet,ORPHA:85282,Disorder,[Malformation syndrome],MEHMO syndrome,[X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome],"A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present.",[300148],,,,,MEHMO syndrome,TRUE,FALSE,Active +GARD:9179,Active,Orphanet,ORPHA:75327,Disorder,[Disease],North Carolina macular dystrophy,"[CAPE dystrophy, CAPED, Central areolar pigment epithelial dystrophy, Central retinal pigment epithelial dystrophy, MCDR1, NCMD, North Carolina macular dystrophy, retinal 1, Progressive foveal dystrophy]","A non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.",[136550],,,,,North Carolina macular dystrophy,TRUE,FALSE,Active +GARD:918,Active,Orphanet,ORPHA:1292,Disorder,[Malformation syndrome],Brachymorphism-onychodysplasia-dysphalangism syndrome,"[BOD syndrome, Senior syndrome]","A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.",[113477],,,,,BOD syndrome,TRUE,FALSE,Active +GARD:9180,Active,Orphanet,ORPHA:97560,Disorder,[Disease],Primary membranous glomerulonephritis,"[Idiopathic membranous glomerulonephritis, Primary membranous nephropathy]","A rare glomerular disease, histologically characterized by thickening of the capillary wall, with immune deposits predominantly containing IgG4 and C3 on the sub-epithelial side, and typically manifesting with nephrotic syndrome.",[614692],,,,,Membranous nephropathy,TRUE,FALSE,Active +GARD:9181,Active,Orphanet,ORPHA:86,Disorder,[Disease],Familial abdominal aortic aneurysm,,,"[611891, 100070, 614375, 609782]",,,,,Abdominal aortic aneurysm,TRUE,FALSE,Active +GARD:9182,Active,Orphanet,ORPHA:93293,Disorder,[Malformation syndrome],Okihiro syndrome,[Duane-radial ray syndrome],"A rare multiple congenital anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly (congenital limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure), renal abnormalities, sensorineural and/or conductive hearing loss, and, less frequently, imperforate anus and scoliosis.",[607323],,,,,Duane-radial ray syndrome,TRUE,FALSE,Active +GARD:9184,Active,Orphanet,ORPHA:1159,Disorder,[Disease],Progressive pseudorheumatoid arthropathy of childhood,[Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome],Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.,[208230],,,,,Progressive pseudorheumatoid dysplasia,TRUE,FALSE,Active +GARD:9185,Active,Orphanet,ORPHA:99898,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,"[MSMD due to complete IFNgammaR1 deficiency, MSMD due to complete interferon gamma receptor 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency]","Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[209950],,,,,"Atypical mycobacteriosis, familial",TRUE,FALSE,Active +GARD:9188,Legacy,GARD,,,,,,,,,,,,HAIR-AN syndrome,FALSE,FALSE,Active +GARD:9189,Active,Orphanet,ORPHA:101084,Disorder,[Disease],Charcot-Marie-Tooth disease type 1D,[CMT1D],"Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.",[607678],,,,,Charcot-Marie-Tooth disease type 1D,TRUE,FALSE,Active +GARD:9190,Active,Orphanet,ORPHA:90658,Disorder,[Disease],Charcot-Marie-Tooth disease type 1E,"[CMT1E, Charcot-Marie-Tooth disease-deafness syndrome, Charcot-Marie-Tooth disease-hearing loss syndrome]","A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.",[118300],,,,,Charcot-Marie-Tooth disease type 1E,TRUE,FALSE,Active +GARD:9191,Active,Orphanet,ORPHA:101085,Disorder,[Disease],Charcot-Marie-Tooth disease type 1F,[CMT1F],"Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).",[607734],,,,,Charcot-Marie-Tooth disease type 1F,TRUE,FALSE,Active +GARD:9192,Active,Orphanet,ORPHA:99936,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2B,[CMT2B],"A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.",[600882],,,,,Charcot-Marie-Tooth disease type 2B,TRUE,FALSE,Active +GARD:9193,Active,Orphanet,ORPHA:99939,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2E,[CMT2E],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.",[607684],,,,,Charcot-Marie-Tooth disease type 2E,TRUE,FALSE,Active +GARD:9194,Active,Orphanet,ORPHA:99940,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2F,[CMT2F],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.",[606595],,,,,Charcot-Marie-Tooth disease type 2F,TRUE,FALSE,Active +GARD:9195,Active,Orphanet,ORPHA:99941,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2G,[CMT2G],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course.",,,,,,Charcot-Marie-Tooth disease type 2G,TRUE,FALSE,Active +GARD:9196,Active,Orphanet,ORPHA:101102,Disorder,[Disease],Charcot-Marie-Tooth disease type 2H,"[AR-CMT2C, Autosomal recessive axonal CMT4C2, Axonal Charcot-Marie-Tooth disease with pyramidal involvement, CMT2H]","Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.",[607731],,,,,Charcot-Marie-Tooth disease type 2H,TRUE,FALSE,Active +GARD:9197,Active,Orphanet,ORPHA:99942,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2I,[CMT2I],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.",[607677],,,,,Charcot-Marie-Tooth disease type 2I,TRUE,FALSE,Active +GARD:9198,Active,Orphanet,ORPHA:99943,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2J,[CMT2J],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.",[607736],,,,,Charcot-Marie-Tooth disease type 2J,TRUE,FALSE,Active +GARD:9199,Active,Orphanet,ORPHA:99944,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2K,[CMT2K],An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy.,[607831],,,,,Charcot-Marie-Tooth disease type 2K,TRUE,FALSE,Active +GARD:92,Active,Orphanet,ORPHA:87503,Disorder,[Disease],Mal de Meleda,"[Keratosis palmoplantaris transgrediens of Siemens, Meleda disease, Transgrediens palmoplantar keratoderma of Siemens]","Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.",[248300],,,,,Meleda disease,TRUE,FALSE,Active +GARD:920,Legacy,GARD,,,,,,,,,,,,Bone dysplasia Azouz type,TRUE,FALSE,Active +GARD:9200,Active,Orphanet,ORPHA:99956,Disorder,[Disease],Charcot-Marie-Tooth disease type 4B2,[CMT4B2],"Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.",[604563],,,,,Charcot-Marie-Tooth disease type 4B2,TRUE,FALSE,Active +GARD:9201,Active,Orphanet,ORPHA:99949,Disorder,[Disease],Charcot-Marie-Tooth disease type 4C,[CMT4C],"Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.",[601596],,,,,Charcot-Marie-Tooth disease type 4C,TRUE,FALSE,Active +GARD:9203,Active,Orphanet,ORPHA:99951,Disorder,[Disease],Charcot-Marie-Tooth disease type 4E,"[Autosomal recessive congenital hypomyelinating neuropathy, CMT4E]","Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.",[605253],,,,,Charcot-Marie-Tooth disease type 4E,TRUE,FALSE,Active +GARD:9204,Active,Orphanet,ORPHA:64748,Disorder,[Disease],Dejerine-Sottas syndrome,"[Charcot-Marie-Tooth disease type 3, HMSN 3, HMSN III, Hereditary motor and sensory neuropathy type 3, Hereditary motor and sensory neuropathy type III]","A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) and PRX (19q13.2) have been implicated.","[618184, 145900]",,,,,Hypertrophic neuropathy of Dejerine-Sottas,TRUE,FALSE,Active +GARD:9205,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma,TRUE,FALSE,Retired +GARD:9206,Active,Orphanet,ORPHA:352670,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,[CMTDIF],"A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.",[615185],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,TRUE,FALSE,Active +GARD:9207,Active,Orphanet,ORPHA:100046,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,[CMTDID],"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.",[607791],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,TRUE,FALSE,Active +GARD:9208,Active,Orphanet,ORPHA:64751,Disorder,[Disease],Hereditary motor and sensory neuropathy type 5,"[Charcot-Marie-Tooth disease-pyramidal features syndrome, HMSN 5, HMSN V, Hereditary motor and sensory neuropathy type V]","Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.",[600361],,,,,Hereditary motor and sensory neuropathy type 5,TRUE,FALSE,Active +GARD:921,Legacy,GARD,,,,,,,,,,,,Bone dysplasia corpus callosum agenesis,TRUE,FALSE,Active +GARD:9210,Active,Orphanet,ORPHA:49827,Disorder,[Disease],Thiamine-responsive megaloblastic anemia syndrome,"[Rogers syndrome, TRMA, Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness, Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss]","Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.",[249270],,,,,Thiamine responsive megaloblastic anemia syndrome,TRUE,FALSE,Active +GARD:9211,Legacy,GARD,,,,,,,,,,,,Aglossia and Situs Inversus,TRUE,FALSE,Active +GARD:9212,Active,Orphanet,ORPHA:2879,Disorder,[Malformation syndrome],"Phocomelia, Schinzel type","[Al Awadi-Raas-Rothschild syndrome, Aplasia/hypoplasia of limbs and pelvis, Congenital absence of ulna and fibula, Severe limb deficit]","Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.",[276820],,,,,Schinzel type phocomelia,TRUE,FALSE,Active +GARD:9213,Legacy,GARD,,,,,,,,,,,,Alsing syndrome,TRUE,FALSE,Active +GARD:9216,Legacy,GARD,,,,,,,,,,,,Baetz-Greenwalt syndrome,TRUE,FALSE,Active +GARD:9217,Active,Orphanet,ORPHA:86914,Disorder,[Malformation syndrome],Lymphedema-cerebral arteriovenous anomaly syndrome,,"Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.",[152900],,,,,Lymphedema and cerebral arteriovenous anomaly,TRUE,FALSE,Active +GARD:9218,Legacy,GARD,,,,,,,,,,,,Auralcephalosyndactyly,TRUE,FALSE,Active +GARD:9219,Legacy,GARD,,,,,,,,,,,,Atlanto-Axial Fusion,TRUE,FALSE,Active +GARD:922,Active,Orphanet,ORPHA:1842,Disorder,[Malformation syndrome],"Bone dysplasia, lethal Holmgren type","[Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type]","A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988.",[211120],,,,,Bone dysplasia lethal Holmgren type,TRUE,FALSE,Active +GARD:9220,Legacy,GARD,,,,,,,,,,,,Astley-Kendall syndrome,TRUE,FALSE,Active +GARD:9221,Legacy,GARD,,,,,,,,,,,,Asternia,TRUE,FALSE,Active +GARD:9222,Legacy,GARD,,,,,,,,,,,,"Asternia with Cardiac, Diaphragmatic, and Abdominal defects",TRUE,FALSE,Retired +GARD:9223,Legacy,GARD,,,,,,,,,,,,Arena syndrome,TRUE,FALSE,Active +GARD:9225,Active,Orphanet,ORPHA:1412,Disorder,[Malformation syndrome],Tarsal-carpal coalition syndrome,,"Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.","[186570, 186400]",,,,,Tarsal carpal coalition syndrome,TRUE,FALSE,Active +GARD:9226,Legacy,GARD,,,,,,,,,,,,Abdominal obesity metabolic syndrome,TRUE,FALSE,Active +GARD:9227,Legacy,GARD,,,,,,,,,,,,"Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery",TRUE,FALSE,Active +GARD:9228,Active,Orphanet,ORPHA:411709,Disorder,[Morphological anomaly],Renal agenesis,,"A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).","[191830, 615721]",,,,,Renal agenesis,TRUE,FALSE,Active +GARD:9229,Legacy,GARD,,,,,,,,,,,,Bile duct cysts,TRUE,FALSE,Active +GARD:923,Legacy,GARD,,,,,,,,,,,,Bone dysplasia Moore type,TRUE,FALSE,Active +GARD:9230,Legacy,GARD,,,,,,,,,,,,Chiari malformation type 1,FALSE,FALSE,Active +GARD:9232,Active,Orphanet,ORPHA:1136,Disorder,[Morphological anomaly],Arnold-Chiari malformation type II,"[Arnold-Chiari malformation type 2, Chiari malformation type 2, Chiari malformation type II]","A rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.",[207950],,,,,Chiari malformation type 2,TRUE,FALSE,Active +GARD:9233,Active,Orphanet,ORPHA:268882,Disorder,[Morphological anomaly],Arnold-Chiari malformation type I,"[Arnold-Chiari malformation type 1, Chiari malformation type 1, Chiari malformation type I]","A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.",[118420],,,,,Chiari malformation type 3,TRUE,FALSE,Active +GARD:9234,Legacy,GARD,,,,,,,,,,,,Chiari malformation type 4,TRUE,FALSE,Active +GARD:9236,Legacy,GARD,,,,,,,,,,,,Disseminated infection with mycobacterium avium complex,TRUE,FALSE,Active +GARD:9237,Active,Orphanet,ORPHA:140896,Disorder,[Disease],Severe acute respiratory syndrome,"[SARS, SARS-1]","A rare pulmonary disease induced by SARS-CoV coronavirus infection, with a reported incubation period varying from 2 to 7 days. Patients present flu-like symptoms, including fever, malaise, myalgia, headache, diarrhoea, and rigors. Dry, nonproductive, cough and dyspnea are frequently reported. Severe cases evolve rapidly, progressing to respiratory distress and failure, requiring intensive care. Mortality rate is 10%. The disease appeared in 2002 in southern China, subsequently spreading in 2003 to 26 countries. Reported human-to-human transmission occurred in Toronto (Canada), Hong Kong Special Administrative Region of China, Chinese Taipei, Singapore, and Hanoi (Viet Nam).",,,,,,SARS,TRUE,FALSE,Active +GARD:9238,Legacy,GARD,,,,,,,,,,,,West Nile virus infection,TRUE,FALSE,Active +GARD:9239,Active,Orphanet,ORPHA:90020,Disorder,[Disease],Parkinson-dementia complex of Guam,"[G-PDC, Guam disease, Guam parkinsonism-dementia complex, Lytico-Bodig disease]","A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam.",[105500],,,,,Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1,TRUE,FALSE,Active +GARD:9240,Legacy,GARD,,,,,,,,,,,,Childhood acute lymphoblastic leukemia,TRUE,FALSE,Active +GARD:9242,Active,Orphanet,ORPHA:164736,Disorder,[Disease],Familial advanced sleep-phase syndrome,[FASPS],A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder.,"[615224, 616882, 604348]",,,,,"Advanced sleep phase syndrome, familial",TRUE,FALSE,Active +GARD:9243,Legacy,GARD,,,,,,,,,,,,Bilirubin induced brain injury in the newborn,TRUE,FALSE,Retired +GARD:9244,Legacy,GARD,,,,,,,,,,,,Cervical intraepithelial neoplasia,TRUE,FALSE,Active +GARD:9246,Legacy,GARD,,,,,,,,,,,,Collagenopathy type 2 alpha 1,TRUE,FALSE,Active +GARD:9247,Active,Orphanet,ORPHA:48686,Disorder,[Disease],Primary effusion lymphoma,"[Body cavity-based lymphoma, PEL]","Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).",,,,,,Primary effusion lymphoma,TRUE,FALSE,Active +GARD:9249,Legacy,GARD,,,,,,,,,,,,Sinonasal undifferentiated carcinoma,TRUE,FALSE,Active +GARD:9252,Active,Orphanet,ORPHA:91500,Disorder,[Disease],Tubulointerstitial nephritis and uveitis syndrome,"[Acute tubulointerstitial nephritis and uveitis syndrome, Dobrin syndrome, TINU syndrome]",A rare renal tubular disease characterized by early-onset tubulointerstitial nephritis associated with anterior uveitis.,[607665],,,,,Tubulointerstitial nephritis and uveitis,TRUE,FALSE,Active +GARD:9253,Legacy,GARD,,,,,,,,,,,,Absence of septum pellucidum,TRUE,FALSE,Active +GARD:9255,Active,Orphanet,ORPHA:1934,Disorder,[Clinical syndrome],Early infantile epileptic encephalopathy,"[EIEE, Early infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome]","A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.","[616341, 617350, 619340, 618548, 613721, 613402, 617389, 617599, 615473, 612164, 609304, 308350, 617391, 617493, 617276, 300672]",,,,,Early Infantile Epileptic Encephalopathy,TRUE,FALSE,Active +GARD:9256,Legacy,GARD,,,,,,,,,,,,Dyssynergia cerebellaris myoclonica,TRUE,FALSE,Active +GARD:9257,Active,Orphanet,ORPHA:57145,Disorder,[Disease],SUNCT syndrome,[Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing],A rare primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).,,,,,,SUNCT headache,TRUE,FALSE,Active +GARD:9258,Active,Orphanet,ORPHA:65250,Disorder,[Disease],Perineural cyst,[Tarlov cyst],"A disorder that is characterized by the presence of cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.",,,,,,Tarlov cysts,TRUE,FALSE,Active +GARD:9259,Legacy,GARD,,,,,,,,,,,,Familial erythema nodosum,TRUE,FALSE,Active +GARD:9260,Legacy,GARD,,,,,,,,,,,,"Erythema nodosum, idiopathic",TRUE,FALSE,Active +GARD:9261,Legacy,GARD,,,,,,,,,,,,Boerhaave syndrome,TRUE,FALSE,Active +GARD:9262,Legacy,GARD,,,,,,,,,,,,Paraquat lung,TRUE,FALSE,Active +GARD:9263,Legacy,GARD,,,,,,,,,,,,Wallenberg syndrome,TRUE,FALSE,Active +GARD:9264,Legacy,GARD,,,,,,,,,,,,Superior vena cava syndrome,TRUE,FALSE,Retired +GARD:9265,Active,Orphanet,ORPHA:71277,Disorder,[Disease],Classic glucose transporter type 1 deficiency syndrome,"[Classic GLUT1 deficiency syndrome, Classic GLUT1-DS, De Vivo disease, Encephalopathy due to GLUT1 deficiency]","Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.",[606777],,,,,Glucose transporter type 1 deficiency syndrome,TRUE,FALSE,Active +GARD:9266,Active,Orphanet,ORPHA:79140,Disorder,[Disease],Cutaneous neuroendocrine carcinoma,"[MCC, Merkel cell carcinoma]","Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).",,,,,,Merkel cell carcinoma,TRUE,FALSE,Active +GARD:9267,Legacy,GARD,,,,,,,,,,,,Herrmann syndrome,TRUE,FALSE,Active +GARD:9268,Active,Orphanet+OMIM,OMIM:137950,Subtype of disorder,[Disease subtype],Glomerulopathy with fibronectin deposits 1,,"Glomerulopathy with fibronectin deposits (GFND) is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (FN1; {135600}) ({3:Castelletti et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Glomerulopathy with Fibronectin Deposits\n\nThe GFND1 locus maps to chromosome 1q32. See also GFND2 ({601894}), which is caused by mutation in the FN1 gene ({135600}) on chromosome 2q35.",[137950],[84090],[Fibronectin glomerulopathy],[15019],,Glomerulopathy with fibronectin deposits 1,TRUE,FALSE,Active +GARD:9269,Legacy,GARD,,,,,,,,,,,,Androgenetic alopecia,FALSE,FALSE,Active +GARD:9270,Legacy,GARD,,,,,,,,,,,,Endolymphatic sac tumor,TRUE,FALSE,Active +GARD:9272,Legacy,GARD,,,,,,,,,,,,Cluttering,TRUE,FALSE,Active +GARD:9273,Legacy,GARD,,,,,,,,,,,,Hereditary cerebellar ataxia syndrome of early onset,TRUE,FALSE,Retired +GARD:9274,Legacy,GARD,,,,,,,,,,,,Auditory neuropathy spectrum disorder,TRUE,FALSE,Active +GARD:9275,Active,Orphanet,ORPHA:98960,Disorder,[Disease],Thiel-Behnke corneal dystrophy,"[Anterior limiting membrane dystrophy type 2, Anterior limiting membrane dystrophy type II, Corneal dystrophy of Bowman layer type 2, Corneal dystrophy of Bowman layer type II, Curly fiber corneal dystrophy, Honeycomb corneal dystrophy, TBCD, Waardenburg-Jonker corneal dystrophy]","Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.",[602082],,,,,Corneal dystrophy Thiel Behnke type,TRUE,FALSE,Active +GARD:9276,Active,Orphanet,ORPHA:98961,Disorder,[Disease],Reis-Bücklers corneal dystrophy,"[Anterior limiting membrane dystrophy type 1, Anterior limiting membrane dystrophy type I, Atypical granular corneal dystrophy, Corneal dystrophy of Bowman layer type 1, Corneal dystrophy of Bowman layer type I, Geographic corneal dystrophy, Granular corneal dystrophy type 3, Granular corneal dystrophy type III, RBCD, Superficial granular corneal dystrophy]","Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.",[608470],,,,,Corneal dystrophy of Bowman layer type 1,TRUE,FALSE,Active +GARD:9277,Active,Orphanet,ORPHA:98967,Disorder,[Disease],Schnyder corneal dystrophy,"[Crystalline stromal dystrophy, Hereditary crystalline stromal dystrophy of Schnyder, SCCD, SCD, Schnyder crystalline corneal dystrophy, Schnyder crystalline dystrophy sine crystals]","Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.",[121800],,,,,Corneal dystrophy crystalline of Schnyder,TRUE,FALSE,Active +GARD:9278,Active,Orphanet,ORPHA:98963,Disorder,[Disease],Granular corneal dystrophy type II,"[Avellino corneal dystrophy, GCD2, GCDII, Granular corneal dystrophy type 2, Granular-lattice corneal dystrophy]","Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.",[607541],,,,,Corneal dystrophy Avellino type,TRUE,FALSE,Active +GARD:9279,Active,Orphanet,ORPHA:51208,Disorder,[Disease],Formiminoglutamic aciduria,"[FTCD deficiency, Formiminotransferase cyclodeaminase deficiency, Glutamate formiminotransferase deficiency]","A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated.",[229100],,,,,Glutamate formiminotransferase deficiency,TRUE,FALSE,Active +GARD:9280,Active,Orphanet,ORPHA:1415,Disorder,[Malformation syndrome],Cholestasis-pigmentary retinopathy-cleft palate syndrome,[Hardikar syndrome],"A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.",,,,,,Hardikar syndrome,TRUE,FALSE,Active +GARD:9281,Active,Orphanet,ORPHA:404560,Disorder,[Disease],Familial atypical multiple mole melanoma syndrome,"[B-K mole syndrome, FAMM-PC syndrome, FAMMM syndrome, Familial atypical mole syndrome, Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome, Familial dysplastic nevus syndrome, Melanoma-pancreatic cancer syndrome]","Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies.","[155600, 606719]",,,,,Familial atypical multiple mole melanoma syndrome,FALSE,FALSE,Active +GARD:9282,Active,Orphanet,ORPHA:370131,Disorder,[Disease],White platelet syndrome,,"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.",,,,,,White platelet syndrome,TRUE,FALSE,Active +GARD:9283,Active,Orphanet,ORPHA:1168,Disorder,[Disease],Ataxia-oculomotor apraxia type 1,[AOA1],"A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.",[208920],,,,,Ataxia with oculomotor apraxia type 1,TRUE,FALSE,Active +GARD:9285,Active,Orphanet,ORPHA:67043,Disorder,[Disease],Amoebic keratitis,,"A rare corneal infection due to the protozoan Acanthamoeba that generally occurs in contact lens wearers and that is characterized by severe ocular pain, blepharospasm, photophobia, eye tearing, blurred vision and foreign body sensation. It can lead to impaired visual acuity if not treated promptly.",,,,,,Acanthamoeba keratitis,TRUE,FALSE,Active +GARD:9286,Legacy,GARD,,,,,,,,,,,,Gnathostoma Infection,TRUE,FALSE,Active +GARD:9287,Active,Orphanet,ORPHA:1190,Disorder,[Malformation syndrome],Atelosteogenesis type I,"[AO1, AOI, Atelosteogenesis type 1, Giant cell chondrodysplasia, Spondylo-humero-femoral dysplasia]","A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.",[108720],,,,,Atelosteogenesis type 1,TRUE,FALSE,Active +GARD:9288,Active,Orphanet,ORPHA:85285,Disorder,[Malformation syndrome],"X-linked intellectual disability, Schimke type",,"X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.",[312840],,,,,"X-linked intellectual disability, Schimke type",TRUE,FALSE,Active +GARD:9289,Legacy,GARD,,,,,,,,,,,,Baby rattle pelvic dysplasia,TRUE,FALSE,Active +GARD:9290,Legacy,GARD,,,,,,,,,,,,Schizotaxia,TRUE,FALSE,Retired +GARD:9292,Active,Orphanet,ORPHA:77299,Disorder,[Malformation syndrome],Microphthalmia-brain atrophy syndrome,"[MCOPS10, MOBA syndrome, Syndromic microphthalmia type 10]","A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.",[611222],,,,,Microphthalmia syndromic 10,TRUE,FALSE,Active +GARD:9294,Active,Orphanet,ORPHA:65283,Disorder,[Malformation syndrome],Timothy syndrome,"[LQT8, Long QT syndrome type 8, Long QT syndrome-syndactyly syndrome]","A rare, multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT.","[601005, 618447]",,,,,Timothy syndrome,TRUE,FALSE,Active +GARD:9295,Active,Orphanet,ORPHA:1860,Subtype of disorder,[Clinical subtype],Thanatophoric dysplasia type 1,"[TD1, Thanatophoric dwarfism type 1]","A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.",[187600],,,,,Thanatophoric dysplasia type 1,TRUE,FALSE,Active +GARD:9296,Active,Orphanet,ORPHA:101004,Disorder,[Disease],Autosomal recessive spastic paraplegia type 24,[SPG24],"A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.",[607584],,,,,Spastic paraplegia 24,TRUE,FALSE,Active +GARD:9297,Active,Orphanet,ORPHA:51636,Disorder,[Disease],WHIM syndrome,"[WILM, Warts-hypogammaglobulinemia-infections-myelokathexis syndrome, Warts-infections-leukopenia-myelokatexis syndrome]","WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).",[193670],,,,,WHIM syndrome,TRUE,FALSE,Active +GARD:9298,Active,Orphanet,ORPHA:3006,Disorder,[Disease],Pyridoxine-dependent epilepsy,"[Antiquitin deficiency, Vitamin B6-dependent seizures]","A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).","[266100, 617290]",,,,,Pyridoxine-dependent epilepsy,TRUE,FALSE,Active +GARD:9299,Active,Orphanet,ORPHA:73423,Disorder,[Disease],Acute ackee fruit intoxication,"[Acute intoxication by Blighia sapida, Jamaican vomiting sickness, Jamaican vomiting syndrome]","A rare disease caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.",,,,,,Acute ackee fruit intoxication,TRUE,FALSE,Active +GARD:93,Active,Orphanet,ORPHA:573,Disorder,[Disease],Monilethrix,[Moniliform hair syndrome],A rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.,[158000],,,,,Monilethrix,TRUE,FALSE,Active +GARD:9300,Legacy,GARD,,,,,,,,,,,,Anal cancer,TRUE,FALSE,Active +GARD:9301,Legacy,GARD,,,,,,,,,,,,"Cerebellar astrocytoma, childhood",TRUE,FALSE,Active +GARD:9302,Legacy,GARD,,,,,,,,,,,,"Cerebral astrocytoma, childhood",TRUE,FALSE,Active +GARD:9303,Legacy,GARD,,,,,,,,,,,,"Basal cell carcinoma, multiple",TRUE,FALSE,Active +GARD:9304,Active,Orphanet,ORPHA:70567,Disorder,[Disease],Cholangiocarcinoma,"[Bile duct cancer, CCA]","Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic.",[615619],,,,,Bile duct cancer,TRUE,FALSE,Active +GARD:9305,Legacy,GARD,,,,,,,,,,,,"Bladder cancer, childhood",TRUE,FALSE,Retired +GARD:9306,Legacy,GARD,,,,,,,,,,,,Childhood brain stem glioma,TRUE,FALSE,Active +GARD:9307,Legacy,GARD,,,,,,,,,,,,"Brain tumor, adult",TRUE,FALSE,Active +GARD:9308,Legacy,GARD,,,,,,,,,,,,"Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified",TRUE,FALSE,Active +GARD:9309,Legacy,GARD,,,,,,,,,,,,"Visual pathway and hypothalamic glioma, childhood",TRUE,FALSE,Active +GARD:9310,Legacy,GARD,,,,,,,,,,,,"Brain tumor, childhood",TRUE,FALSE,Active +GARD:9311,Legacy,GARD,,,,,,,,,,,,"Breast cancer, childhood",TRUE,FALSE,Retired +GARD:9312,Legacy,GARD,,,,,,,,,,,,"Breast cancer, male",TRUE,FALSE,Active +GARD:9313,Legacy,GARD,,,,,,,,,,,,Bronchial adenomas/carcinoids childhood,TRUE,FALSE,Active +GARD:9315,Legacy,GARD,,,,,,,,,,,,Carcinoid tumor childhood,TRUE,FALSE,Active +GARD:9316,Active,Orphanet,ORPHA:877,Group of disorders,[Category],Neuroendocrine neoplasm,,"A group of rare tumors characterized by predominantly neuroendocrine differentiation, potentially arising in most organs of the body, including the central nervous system, respiratory tract, larynx, gastrointestinal tract, thyroid, skin, breast, and urogenital system. The gastrointestinal tract and lungs are the most common primary tumor sites. Based on clinical behavior, histology, and proliferation rate, the tumors may be categorized as well differentiated (low grade to intermediate grade) neuroendocrine tumors and poorly differentiated (high grade) neuroendocrine carcinomas. They may or may not be associated with clinical hormone hypersecretion syndromes.",,,,,,Carcinoid tumor,TRUE,FALSE,Active +GARD:9318,Active,Orphanet,ORPHA:46135,Disorder,[Disease],Primary central nervous system lymphoma,"[PCNSL, Primary CNS lymphoma, Primary brain lymphoma]","Primary central nervous system lymphoma (PCNSL) is a rare nervous system tumor, predominantly due to diffuse large B-cell lymphoma, that involves brain, leptomeninges, eyes, or rarely spinal cord, in the absence of systemic diffusion at the time of diagnosis. It is characterized by a solitary tumor that, depending on its location, can lead to a variety of symptoms such as headache, nausea, vomiting (and other signs of raised intracranial pressure), focal neurologic deficits, neuropsychiatric and ocular symptoms, seizures and personality changes.",,,,,,Primary central nervous system lymphoma,TRUE,FALSE,Active +GARD:9319,Active,Orphanet,ORPHA:98274,Group of disorders,[Clinical group],Myeloproliferative neoplasm,"[MPD, MPN, Myeloproliferative disorder]",,,,,,,Chronic myeloproliferative disorders,TRUE,FALSE,Active +GARD:932,Active,Orphanet,ORPHA:1262,Disorder,[Malformation syndrome],Böök syndrome,,"A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.",[112300],,,,,Book syndrome,TRUE,FALSE,Active +GARD:9320,Legacy,GARD,,,,,,,,,,,,"Colorectal cancer, childhood",TRUE,FALSE,Retired +GARD:9321,Legacy,GARD,,,,,,,,,,,,"Esophageal cancer, childhood",TRUE,FALSE,Retired +GARD:9323,Legacy,GARD,,,,,,,,,,,,Ewing's family of tumors,TRUE,FALSE,Retired +GARD:9324,Legacy,GARD,,,,,,,,,,,,"Extracranial germ cell tumor, childhood",TRUE,FALSE,Retired +GARD:9325,Active,Orphanet,ORPHA:363579,Group of disorders,[Category],Extragonadal germ cell tumor,,,,,,,,Extragonadal germ cell tumor,TRUE,FALSE,Active +GARD:9328,Legacy,GARD,,,,,,,,,,,,Gallbladder cancer,TRUE,FALSE,Active +GARD:9329,Legacy,GARD,,,,,,,,,,,,"Stomach cancer, childhood",TRUE,FALSE,Retired +GARD:933,Active,Orphanet,ORPHA:1263,Disorder,[Disease],Boomerang dysplasia,,"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.",[112310],,,,,Boomerang dysplasia,TRUE,FALSE,Active +GARD:9330,Active,Orphanet,ORPHA:35807,Group of disorders,[Category],Malignant germ cell tumor of ovary,"[MOGCT, Malignant ovarian germ cell tumor, Ovarian germ cell cancer]","Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.",[603737],,,,,Ovarian germ cell tumor,TRUE,FALSE,Active +GARD:9331,Active,Orphanet,ORPHA:33402,Disorder,[Disease],Pediatric hepatocellular carcinoma,"[Childhood-onset HCC, Childhood-onset hepatocellular carcinoma, Pediatric HCC]","A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases).",[114550],,,,,Childhood hepatocellular carcinoma,TRUE,FALSE,Active +GARD:9332,Legacy,GARD,,,,,,,,,,,,"Hodgkin lymphoma, childhood",TRUE,FALSE,Retired +GARD:9333,Legacy,GARD,,,,,,,,,,,,"Hodgkin lymphoma, during pregnancy",TRUE,FALSE,Retired +GARD:9334,Legacy,GARD,,,,,,,,,,,,Hypopharyngeal cancer,TRUE,FALSE,Active +GARD:9339,Legacy,GARD,,,,,,,,,,,,Kidney Neoplasm,FALSE,FALSE,Draft +GARD:9340,Legacy,GARD,,,,,,,,,,,,"Kidney cancer, childhood",TRUE,FALSE,Retired +GARD:9341,Legacy,GARD,,,,,,,,,,,,"Laryngeal cancer, childhood",TRUE,FALSE,Retired +GARD:9342,Legacy,GARD,,,,,,,,,,,,Lip and oral cavity cancer,TRUE,FALSE,Active +GARD:9343,Legacy,GARD,,,,,,,,,,,,"Non-small cell lung cancer, childhood",TRUE,FALSE,Retired +GARD:9344,Active,Orphanet,ORPHA:70573,Disorder,[Disease],Small cell lung cancer,[SCLC],"Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized by rapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.",[182280],,,,,Small cell lung cancer,TRUE,FALSE,Active +GARD:9345,Legacy,GARD,,,,,,,,,,,,Childhood Lung Small Cell Carcinoma,TRUE,FALSE,Retired +GARD:9346,Legacy,GARD,,,,,,,,,,,,Childhood Non-Hodgkin Lymphoma,TRUE,FALSE,Retired +GARD:9347,Legacy,GARD,,,,,,,,,,,,"Non-Hodgkin lymphoma, during pregnancy",TRUE,FALSE,Retired +GARD:9348,Active,Orphanet,ORPHA:180247,Disorder,[Disease],Vaginal carcinoma,[Vaginal malignant epithelial tumor],"A group of rare vaginal tumors comprising HPV-associated and HPV-independent squamous cell carcinoma, glandular tumors (including HPV-associated adenocarcinoma, endometrioid carcinoma, clear cell carcinoma, gastric type and intestinal type mucinous carcinoma, and mesonephric adenocarcinoma), adenocarcinoma of Skene gland origin, adenosquamous carcinoma, and adenoid basal carcinoma. Depending on the type of tumor and disease stage, patients may present with symptoms related to a vaginal mass, vaginal bleeding and/or discharge, postcoital bleeding, urinary symptoms, pelvic pain, and a foreign body sensation within the vagina.",,,,,,Vaginal cancer,TRUE,FALSE,Active +GARD:9349,Active,Orphanet,ORPHA:494418,Disorder,[Disease],Vulvar carcinoma,[Carcinoma of vulva],"A group of rare tumors of the vulva comprising HPV-associated and HPV-independent squamous cell carcinomas as the most frequent malignant vulvar tumors, basal cell carcinomas, adenocarcinomas, and Bartholin gland carcinomas. Depending on the type of tumor and disease stage, patients may present with a painless vulvar mass or ulcer, or with pruritus, a burning sensation, pain, or bleeding.",,,,,,Vulvar cancer,TRUE,FALSE,Active +GARD:9350,Legacy,GARD,,,,,,,,,,,,"Medulloblastoma, childhood",TRUE,FALSE,Active +GARD:9351,Active,Orphanet,ORPHA:98275,Group of disorders,[Clinical group],Myelodysplastic/myeloproliferative disease,,,,,,,,Myelodysplastic/myeloproliferative disease,TRUE,FALSE,Active +GARD:9353,Legacy,GARD,,,,,,,,,,,,"Nasal cavity cancer, childhood",TRUE,FALSE,Retired +GARD:9354,Legacy,GARD,,,,,,,,,,,,"Paranasal sinus cancer, adult",TRUE,FALSE,Active +GARD:9355,Legacy,GARD,,,,,,,,,,,,"Paranasal sinus cancer, childhood",TRUE,FALSE,Retired +GARD:9357,Legacy,GARD,,,,,,,,,,,,"Nasopharyngeal cancer, childhood",TRUE,FALSE,Retired +GARD:9358,Legacy,GARD,,,,,,,,,,,,"Oropharyngeal cancer, adult",TRUE,FALSE,Active +GARD:9359,Legacy,GARD,,,,,,,,,,,,"Oropharyngeal cancer, childhood",TRUE,FALSE,Retired +GARD:936,Active,Orphanet,ORPHA:127,Disorder,[Malformation syndrome],Borjeson-Forssman-Lehmann syndrome,"[BFLS, Intellectual disability-epilepsy-endocrine disorders syndrome]","Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.",[301900],,,,,Borjeson-Forssman-Lehmann syndrome,TRUE,FALSE,Active +GARD:9360,Legacy,GARD,,,,,,,,,,,,Oral cancer,TRUE,FALSE,Active +GARD:9361,Legacy,GARD,,,,,,,,,,,,Childhood ovarian cancer,TRUE,FALSE,Retired +GARD:9362,Active,Orphanet,ORPHA:398934,Group of disorders,[Category],Malignant epithelial tumor of ovary,"[Epithelial cancer of ovary, Ovarian epithelial cancer, Ovarian malignant epithelial tumor]",,,,,,,Ovarian epithelial cancer,TRUE,FALSE,Active +GARD:9363,Active,Orphanet,ORPHA:206473,Disorder,[Disease],Borderline epithelial tumor of ovary,"[Borderline ovarian epithelial tumor, Ovarian tumor of low malignant potential]","A rare epithelial ovarian neoplasm, distinguished from ovarian carcinomas by the absence of destructive stromal invasion, generally characterized by indolent behavior and excellent prognosis. Most patients are asymptomatic at the time of diagnosis, and the symptoms, if present, are often nonspecific and vague, such as pelvic pain, abdominal mass or, rarely, gastrointestinal problems including early satiety or bloating. Six histological subtypes are currently recognized, based on the epithelial cell type.",,,,,,Ovarian low malignant potential tumor,TRUE,FALSE,Active +GARD:9364,Active,Orphanet,ORPHA:180824,Group of disorders,[Category],Rare tumor of pancreas,[Rare pancreatic tumor],,,,,,,Pancreatic cancer,TRUE,FALSE,Active +GARD:9365,Legacy,GARD,,,,,,,,,,,,"Parathyroid cancer, childhood",TRUE,FALSE,Retired +GARD:9366,Active,Orphanet,ORPHA:398043,Group of disorders,[Category],Malignant tumor of penis,"[Cancer of penis, Malignant penile tumor, Penile cancer]",,,,,,,Penile cancer,TRUE,FALSE,Active +GARD:9367,Legacy,GARD,,,,,,,,,,,,"Penile cancer, childhood",TRUE,FALSE,Retired +GARD:9368,Legacy,GARD,,,,,,,,,,,,"Pheochromocytoma, childhood",TRUE,FALSE,Retired +GARD:9369,Active,Orphanet,ORPHA:251909,Disorder,[Disease],Pineoblastoma,,"Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.",,,,,,Pineoblastoma,TRUE,FALSE,Active +GARD:9370,Legacy,GARD,,,,,,,,,,,,"Pineoblastoma, childhood",TRUE,FALSE,Retired +GARD:9371,Active,Orphanet,ORPHA:300385,Disorder,[Disease],Pituitary carcinoma,,"A rare pituitary tumor characterized by the presence of a pituitary adenoma that has metastasized either within the central nervous system, or to distant sites. The vast majority of pituitary carcinomas are hormonally active, most frequently with ACTH or prolactin production. The most common clinical symptoms are diabetes insipidus, optic nerve dysfunction, anterior pituitary dysfunction, palsy of cranial nerves III, IV, or VI, and headaches, although patients may also be asymptomatic. The tumors behave aggressively, and prognosis is poor.",,,,,,Pituitary cancer,TRUE,FALSE,Active +GARD:9373,Active,Orphanet,ORPHA:454714,Disorder,[Disease],Plasma cell leukemia,[PCL],"A rare plasma cell neoplasm characterized by peripheral plasmacytosis, usually with extensive and diffuse infiltration of the bone marrow, and monoclonal paraproteinemia. Neoplastic plasma cells may also be found in extramedullary sites, such as the liver or spleen, among others. Most cases present as primary plasma cell leukemia without previous diagnosis of myeloma. The condition can also represent leukemic transformation of plasma cell myeloma (secondary plasma cell leukemia). Clinical manifestations include lymphadenopathy, organomegaly, renal failure, bone marrow failure, and peripheral neuropathies. High serum levels of lactate dehydrogenase and beta2-microglobulin, as well as hypercalcemia (potentially leading to hypercalcemic crisis) are typically observed.",,,,,,Plasma cell leukemia,TRUE,FALSE,Active +GARD:9375,Legacy,GARD,,,,,,,,,,,,"Rectal cancer, childhood",TRUE,FALSE,Retired +GARD:9376,Active,Orphanet,ORPHA:598216,Disorder,[Disease],Upper tract urothelial carcinoma,"[Transitional cell carcinoma of the pelvis and ureter, Transitional cell carcinoma of the upper urinary tract, UTUC]",,,,,,,Transitional cell cancer of the renal pelvis and ureter,TRUE,FALSE,Active +GARD:9377,Legacy,GARD,,,,,,,,,,,,"Salivary gland cancer, adult",TRUE,FALSE,Active +GARD:9378,Legacy,GARD,,,,,,,,,,,,"Salivary gland cancer, childhood",TRUE,FALSE,Retired +GARD:938,Active,Orphanet,ORPHA:1264,Disorder,[Malformation syndrome],Tricho-retino-dento-digital syndrome,"[Bork syndrome, Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome]","Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.",[191482],,,,,Bork Stender Schmidt syndrome,TRUE,FALSE,Active +GARD:9380,Legacy,GARD,,,,,,,,,,,,Soft tissue sarcoma childhood,TRUE,FALSE,Retired +GARD:9382,Legacy,GARD,,,,,,,,,,,,"Skin cancer, non melanoma, childhood",TRUE,FALSE,Retired +GARD:9383,Legacy,GARD,,,,,,,,,,,,Uterine sarcoma,TRUE,FALSE,Active +GARD:9384,Legacy,GARD,,,,,,,,,,,,Metastatic squamous neck cancer with occult primary,TRUE,FALSE,Active +GARD:9385,Legacy,GARD,,,,,,,,,,,,Small intestine cancer,TRUE,FALSE,Active +GARD:9386,Legacy,GARD,,,,,,,,,,,,"Small intestine cancer, childhood",TRUE,FALSE,Retired +GARD:9387,Legacy,GARD,,,,,,,,,,,,"Testicular cancer, childhood",TRUE,FALSE,Retired +GARD:9388,Legacy,GARD,,,,,,,,,,,,"Thyroid cancer, childhood",TRUE,FALSE,Retired +GARD:939,Legacy,GARD,,,,,,,,,,,,Borrone Di Rocco Crovato syndrome,TRUE,FALSE,Active +GARD:9390,Legacy,GARD,,,,,,,,,,,,Urethral cancer,TRUE,FALSE,Active +GARD:9392,Legacy,GARD,,,,,,,,,,,,"Carcinoma of unknown primary site, childhood",TRUE,FALSE,Retired +GARD:9394,Legacy,GARD,,,,,,,,,,,,Acute cholinergic dysautonomia,TRUE,FALSE,Active +GARD:9396,Legacy,GARD,,,,,,,,,,,,Fibrolamellar carcinoma,TRUE,FALSE,Active +GARD:9397,Legacy,GARD,,,,,,,,,,,,Brenner tumor of ovary,TRUE,FALSE,Active +GARD:9398,Legacy,GARD,,,,,,,,,,,,Sarcoma botryoides,TRUE,FALSE,Active +GARD:9399,Legacy,GARD,,,,,,,,,,,,Glucagonoma syndrome,TRUE,FALSE,Retired +GARD:94,Active,Orphanet,ORPHA:578,Disorder,[Disease],Mucolipidosis type IV,,"A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features.",[252650],,,,,Mucolipidosis type 4,TRUE,FALSE,Active +GARD:9400,Active,Orphanet,ORPHA:66529,Disorder,[Disease],Tako-Tsubo cardiomyopathy,"[Ampulla cardiomyopathy, Apical ballooning syndrome, Ballooning cardiomyopathy, Broken heart syndrome, Stress cardiomyopathy, Tako-Tsubo syndrome, Takotsubo cardiomyopathy, Takotsubo syndrome, Transient left ventricular apical ballooning syndrome]","A rare cardiac disease characterized by acute occurrence of heart failure after an emotional or physical trigger however, recovery of the wall motion abnormalities are observed within months. Symptoms are similar to acute coronary syndrome (ACS).",,,,,,Broken heart syndrome,TRUE,FALSE,Active +GARD:9401,Legacy,GARD,,,,,,,,,,,,Eagle syndrome,TRUE,FALSE,Active +GARD:9404,Active,Orphanet,ORPHA:498228,Disorder,[Disease],Phyllodes tumor of the prostate,"[Cystic epithelial-stromal tumors of the prostate, Cystosarcoma phyllodes of the prostate, Phyllodes type of atypical prostatic hyperplasia]","A rare urogenital tumor characterized by stromal and epithelial components forming cysts lined by hyperplastic epithelium in a cellular or sarcomatoid stroma. The tumors may be clinically benign or malignant and tend to recur after transurethral resection. Metastatic spread is to lungs, bone, and liver. Patients may present with obstructive voiding symptoms, dysuria, hematuria, urinary retention, or a palpable abdominal mass. The prostate is palpably enlarged but feels soft and spongy.",,,,,,Phyllodes tumor of the prostate,TRUE,FALSE,Active +GARD:9405,Legacy,GARD,,,,,,,,,,,,Prostatic stromal proliferation of uncertain malignant potential,TRUE,FALSE,Active +GARD:9408,Legacy,GARD,,,,,,,,,,,,Secretory breast carcinoma,TRUE,FALSE,Active +GARD:9410,Legacy,GARD,,,,,,,,,,,,Pseudoangiomatous stromal hyperplasia,FALSE,FALSE,Active +GARD:9411,Legacy,GARD,,,,,,,,,,,,Primary familial xanthomatosis with involvement and calcification of the adrenal galnds,TRUE,FALSE,Retired +GARD:9412,Active,Orphanet,ORPHA:139396,Subtype of disorder,[Clinical subtype],X-linked cerebral adrenoleukodystrophy,[X-CALD],"A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade.",[300100],,,,,X-linked cerebral adrenoleukodystrophy,TRUE,FALSE,Active +GARD:9413,Legacy,GARD,,,,,,,,,,,,De Quervain's disease,FALSE,FALSE,Active +GARD:9414,Legacy,GARD,,,,,,,,,,,,Neuromyelitis optica spectrum disorders,TRUE,FALSE,Retired +GARD:9415,Legacy,GARD,,,,,,,,,,,,Paraneoplastic Neurologic Disorders,TRUE,FALSE,Active +GARD:9416,Legacy,GARD,,,,,,,,,,,,Post-Streptococcal Neurologic Disorders,TRUE,FALSE,Retired +GARD:9417,Legacy,GARD,,,,,,,,,,,,Meralgia paresthetica,TRUE,FALSE,Active +GARD:9418,Active,Orphanet,ORPHA:3233,Disorder,[Malformation syndrome],Cochleosaccular degeneration-cataract syndrome,,"Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.",[120040],,,,,Cochleosaccular degeneration of the inner ear and progressive cataracts,TRUE,FALSE,Active +GARD:9419,Legacy,GARD,,,,,,,,,,,,Rokitansky-Aschoff sinuses of the gallbladder,TRUE,FALSE,Active +GARD:942,Active,Orphanet,ORPHA:128,Disorder,[Disease],Diphyllobothriasis,[Bothriocephalosis],"Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).",,,,,,Bothriocephalosis,TRUE,FALSE,Active +GARD:9420,Active,Orphanet,ORPHA:2670,Disorder,[Malformation syndrome],Pierson syndrome,[Microcoria-congenital nephrosis syndrome],"A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits.",[609049],,,,,Pierson syndrome,TRUE,FALSE,Active +GARD:9421,Legacy,GARD,,,,,,,,,,,,Halo nevus,TRUE,FALSE,Active +GARD:9422,Legacy,GARD,,,,,,,,,,,,Melanocytic lesions of CNS,TRUE,FALSE,Active +GARD:9423,Legacy,GARD,,,,,,,,,,,,Familial capillaro-venous leptomeningeal angiomatosis,TRUE,FALSE,Active +GARD:9428,Active,Orphanet+OMIM,OMIM:607464,Subtype of disorder,[Disease subtype],"Thyroid carcinoma, hurthle cell",[Hurthle cell thyroid neoplasia],"Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms ({4:Sanders and Silverman, 1998}).\n\nHurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm ({2:Maximo et al., 2005}).",[607464],[146],[Differentiated thyroid carcinoma],[12027],,Hurthle cell thyroid cancer,TRUE,FALSE,Active +GARD:9429,Active,Orphanet,ORPHA:309796,Subtype of disorder,[Etiological subtype],Rhizomelic chondrodysplasia punctata type 2,,,[222765],,,,,Rhizomelic chondrodysplasia punctata type 2,TRUE,FALSE,Active +GARD:943,Active,Orphanet,ORPHA:1267,Disorder,[Disease],Botulism,,"Botulism is a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), including four clinical forms with different modes of acquisition.",,,,,,Botulism,TRUE,FALSE,Active +GARD:9430,Active,Orphanet,ORPHA:93583,Subtype of disorder,[Clinical subtype],Congenital thrombotic thrombocytopenic purpura,"[Congenital ADAMTS-13 deficiency, Congenital TTP, Familial TTP, Upshaw-Schulman syndrome]","A hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.",[274150],,,,,Congenital thrombotic thrombocytopenic purpura,TRUE,FALSE,Active +GARD:9432,Legacy,GARD,,,,,,,,,,,,"Hemolytic uremic syndrome, atypical, childhood",TRUE,FALSE,Active +GARD:9433,Active,Orphanet,ORPHA:289899,Group of disorders,[Category],Organic aciduria,,,,,,,,Organic acidemias,TRUE,FALSE,Active +GARD:9434,Legacy,GARD,,,,,,,,,,,,Sudden Arrhythmia Death Syndrome,TRUE,FALSE,Active +GARD:9435,Active,Orphanet+OMIM,OMIM:608233,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 2,,"Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by platelet defects and oculocutaneous albinism. HPS2 differs from the other forms of HPS in that it includes immunodeficiency, and patients with HPS2 have an increased susceptibility to infections due to congenital neutropenia ({6:Jung et al., 2006}).",[608233],[183678],[Hermansky-Pudlak syndrome due to AP-3 deficiency],[15026],,Hermansky Pudlak syndrome 2,TRUE,FALSE,Active +GARD:9437,Legacy,GARD,,,,,,,,,,,,Dysesthetic Vulvodynia,TRUE,FALSE,Retired +GARD:9439,Legacy,GARD,,,,,,,,,,,,Vulvar Vestibulitis Syndrome,TRUE,FALSE,Active +GARD:944,Active,Orphanet,ORPHA:1180,Disorder,[Disease],Ataxia-hypogonadism-choroidal dystrophy syndrome,[Boucher-Neuhäuser syndrome],"A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).",[215470],,,,,Ataxia - hypogonadism - choroidal dystrophy,TRUE,FALSE,Active +GARD:9440,Legacy,GARD,,,,,,,,,,,,Psychosocial short stature,TRUE,FALSE,Retired +GARD:9441,Active,Orphanet,ORPHA:420561,Disorder,[Disease],Temple-Baraitser syndrome,"[Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome, TMBTS]","A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism.",[611816],,,,,Temple-Baraitser syndrome,TRUE,FALSE,Active +GARD:9442,Active,Orphanet,ORPHA:366,Disorder,[Disease],Glycogen storage disease due to glycogen debranching enzyme deficiency,"[Amylo-1,6-glucosidase deficiency, Cori disease, Cori-Forbes disease, Forbes disease, GDE deficiency, GSD due to glycogen debranching enzyme deficiency, GSD type 3, GSDIII, Glycogen storage disease type 3, Glycogen storage disease type III, Glycogenosis due to glycogen debranching enzyme deficiency, Glycogenosis type 3, Glycogenosis type III, Limit dextrinosis]","Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.",[232400],,,,,Glycogen storage disease type 3,TRUE,FALSE,Active +GARD:9443,Active,Orphanet,ORPHA:85165,Disorder,[Disease],Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,[SADDAN],"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).",[616482],,,,,Severe achondroplasia with developmental delay and acanthosis nigricans,TRUE,FALSE,Active +GARD:9444,Active,Orphanet,ORPHA:99826,Disorder,[Disease],Marburg hemorrhagic fever,"[Green monkey disease, MHF, Marburg virus disease]","Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.",,,,,,Marburg hemorrhagic fever,TRUE,FALSE,Active +GARD:9445,Legacy,GARD,,,,,,,,,,,,Reactive angioendotheliomatosis,TRUE,FALSE,Active +GARD:9447,Active,Orphanet,ORPHA:79263,Disorder,[Disease],Infantile neuronal ceroid lipofuscinosis,"[Hagberg-Santavuori disease, INCL, Infantile NCL, Santavuori disease, Santavuori-Haltia disease]",Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.,[256730],,,,,Infantile neuronal ceroid lipofuscinosis,TRUE,FALSE,Active +GARD:9448,Active,Orphanet,ORPHA:295016,Disorder,[Morphological anomaly],Camptodactyly of fingers,,"Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.",[114200],,,,,Familial streblodactyly,TRUE,FALSE,Active +GARD:9449,Active,Orphanet,ORPHA:100067,Subtype of disorder,[Clinical subtype],Waterhouse-Friderichsen syndrome,,,,,,,,Waterhouse–Friderichsen syndrome,TRUE,FALSE,Active +GARD:945,Legacy,GARD,,,,,,,,,,,,Boudhina Yedes Khiari syndrome,TRUE,FALSE,Active +GARD:9450,Active,Orphanet,ORPHA:180176,Disorder,[Morphological anomaly],Familial juvenile hypertrophy of the breast,"[Familial juvenile gigantomastia, Virginal breast hypertrophy]","A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.",[113670],,,,,Gigantomastia,TRUE,FALSE,Active +GARD:9451,Legacy,GARD,,,,,,,,,,,,Xanthogranulomatous cholecystitis,TRUE,FALSE,Active +GARD:9452,Active,Orphanet,ORPHA:91414,Disorder,[Disease],Pilomatrixoma,"[Epithelioma calcificans of Malherbe, Pilomatricoma]","Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).",[132600],,,,,Pilomatrixoma,TRUE,FALSE,Active +GARD:9453,Active,Orphanet,ORPHA:37553,Disorder,[Disease],Andersen-Tawil syndrome,"[Andersen syndrome, LQT7, Long QT syndrome type 7]","A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.",[170390],,,,,Andersen-Tawil syndrome,TRUE,FALSE,Active +GARD:9455,Active,Orphanet,ORPHA:2318,Disorder,[Malformation syndrome],Joubert syndrome with oculorenal defect,"[Arima syndrome, CORS, Cerebellooculorenal syndrome, Dekaban-Arima syndrome, JS type B, JS-OR, Joubert syndrome with Senior-Loken syndrome]",A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.,"[614424, 608091, 243910, 614465, 614844, 610188, 612285]",,,,,Joubert syndrome with oculorenal anomalies,TRUE,FALSE,Active +GARD:9456,Active,Orphanet,ORPHA:75563,Disorder,[Disease],X-linked sideroblastic anemia,[XLSA],"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.",[300751],,,,,X-linked sideroblastic anemia,TRUE,FALSE,Active +GARD:9457,Active,Orphanet,ORPHA:2924,Disorder,[Malformation syndrome],Isolated polycystic liver disease,"[ADPCLD, Autosomal dominant polycystic liver disease, PCLD]",Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).,"[174050, 617004]",,,,,Polycystic liver disease,TRUE,FALSE,Active +GARD:9458,Active,Orphanet+OMIM,OMIM:609192,Subtype of disorder,[Malformation syndrome subtype],Loeys-dietz syndrome 1,"[Furlong syndrome, aortic aneurysm, familial thoracic 5, loeys-dietz aortic aneurysm syndrome]","The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by {9:Loeys et al. (2006)}, the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.\n\nLDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by {10:MacCarrick et al., 2014}).\n\n<Subhead> Nomenclature\n\nIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) ({10:MacCarrick et al., 2014}). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below).\n\n<Subhead> Genetic Heterogeneity of Loeys-Dietz Syndrome\n\nLDS1 is caused by mutation in the TGFBR1 gene. LDS2 ({610168}) is caused by mutation in the TGFBR2 gene ({190182}). LDS3 ({613795}), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene ({603109}). LDS4 ({614816}) is caused by mutation in the TGFB2 gene ({190220}). LDS5 ({615582}) is caused by mutation in the TGFB3 gene ({190230}). LDS6 ({619656}) is caused by mutation in the SMAD2 gene ({601366}).\n\n<Subhead> Reviews\n\n{10:MacCarrick et al. (2014)} provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.\n\n{15:Schepers et al. (2018)} reviewed the clinical manifestations of LDS associated with mutation in the TRFBR1/2, TGFB1/2, and SMAD2/3 genes, concluding that the LDS phenotype represents a broad spectrum that is emerging as more patients are reported. They suggested genetic testing of the LDS genes be performed in the following scenarios: patients with the typical clinical trial of hypertelorism, cleft palate/bifid uvula and arterial tortuosity/aneurysm; early-onset aortic aneurysm with variable combination of other features including arachnodactyly, camptodactyly, club feet, any type of craniosynostosis, blue sclerae, thin skin with atrophic scars, easy bruising, joint hypermobility, bicuspid aortic valve, patent ductus arteriosus, atrial and ventricular septal defects; sporadic young probands with aortic root dilatation/dissection; families with autosomal dominant thoracic aortic aneurysms, especially those families with early-onset aortic/arterial dissection or aortic disease beyond the aortic root, including cerebral arteries; patients with a Marfan syndrome (MFS; {154700})-like phenotype, especially those without ectopia lentis, but with aortic and skeletal features not fulfilling the MFS diagnostic criteria; and patients with clinical features reminiscent of vascular Ehlers-Danlos syndrome ({130050}), including thin skin with atrophic scars, easy bruising, and joint hypermobility, who have normal type III collagen biochemistry and/or normal COL3A1 ({120180}) genetic testing.\n\n<Subhead> Diagnosis\n\n{15:Schepers et al. (2018)} noted that no formal diagnostic criteria had been developed for LDS, but stated that the diagnosis is established in individuals with a heterozygous pathogenic variant in SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, or TGFBR2 who exhibit either aortic root enlargement (defined as an aortic root z-score greater than or equal to 2.0) or type A dissection, or compatible systemic features including characteristic craniofacial, skeletal, cutaneous, and/or vascular manifestations found in combination. Special emphasis should be given to arterial tortuosity, particularly of the head and neck vessels, and to aneurysms or dissections involving medium-to-large muscular arteries throughout the arterial tree.",[609192],[60030],[Loeys-Dietz syndrome],[10788],,Loeys-Dietz syndrome type 1,TRUE,FALSE,Active +GARD:9459,Legacy,GARD,,,,,,,,,,,,Tracheal agenesis without tracheoesophageal fistula,TRUE,FALSE,Retired +GARD:946,Legacy,GARD,,,,,,,,,,,,Bourneville syndrome,TRUE,FALSE,Retired +GARD:9460,Legacy,GARD,,,,,,,,,,,,"Ovarian insufficiency, familial",TRUE,FALSE,Active +GARD:9461,Legacy,GARD,,,,,,,,,,,,Autoimmune oophoritis,TRUE,FALSE,Active +GARD:9462,Legacy,GARD,,,,,,,,,,,,Microspherophakia with hernia,TRUE,FALSE,Active +GARD:9463,Active,Orphanet,ORPHA:85174,Disorder,[Malformation syndrome],Pseudodiastrophic dysplasia,,"Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.",[264180],,,,,Pseudodiastrophic dysplasia,TRUE,FALSE,Active +GARD:9465,Active,Orphanet+OMIM,OMIM:104300,Subtype of disorder,[Disease subtype],"Alzheimer disease, familial, 1",[Presenile and senile dementia],"Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions ({180:Sennvik et al., 2000}). {199:Terry and Davies (1980)} pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).\n\n{72:Haines (1991)} reviewed the genetics of AD. {179:Selkoe (1996)} reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. {202:Theuns and Van Broeckhoven (2000)} reviewed the transcriptional regulation of the genes involved in Alzheimer disease.\n\n<Subhead> Genetic Heterogeneity of Alzheimer Disease\n\nAlzheimer disease is a genetically heterogeneous disorder. See also AD2 ({104310}), associated with the APOE*4 allele ({107741}) on chromosome 19; AD3 ({607822}), caused by mutation in the presenilin-1 gene (PSEN1; {104311}) on 14q; and AD4 ({606889}), caused by mutation in the PSEN2 gene ({600759}) on 1q31.\n\nThere is evidence for additional AD loci on other chromosomes; see AD5 ({602096}) on 12p11; AD6 ({605526}) on 10q24; AD7 ({606187}) on 10p13; AD8 ({607116}) on 20p; AD9 ({608907}), associated with variation in the ABCA7 gene ({605414}) on 19p13; AD10 ({609636}) on 7q36; AD11 ({609790}) on 9q22; AD12 ({611073}) on 8p12-q22; AD13 ({611152}) on 1q21; AD14 ({611154}) on 1q25; AD15 ({604154}) on 3q22-q24; AD16 ({300756}) on Xq21.3; AD17 ({615080}) on 6p21.2; and AD18 ({615590}), associated with variation in the ADAM10 gene ({602192}) on 15q21.\n\nEvidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease ({502500}).\n\nFinally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; {103950.0005}), low density lipoprotein-related protein-1 (LRP1; {107770}), the transferrin gene (TF; {190000}), the hemochromatosis gene (HFE; {613609}), the NOS3 gene ({163729}), the vascular endothelial growth factor gene (VEGF; {192240}), the ABCA2 gene ({600047}), and the TNF gene ({191160}) (see MOLECULAR GENETICS).",[104300],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,Alzheimer disease type 1,TRUE,FALSE,Active +GARD:9467,Legacy,GARD,,,,,,,,,,,,Alzheimer disease type 2,TRUE,FALSE,Active +GARD:9468,Legacy,GARD,,,,,,,,,,,,Alzheimer disease type 3,TRUE,FALSE,Active +GARD:9469,Legacy,GARD,,,,,,,,,,,,Alzheimer disease type 4,TRUE,FALSE,Active +GARD:9470,Legacy,GARD,,,,,,,,,,,,Amyotrophic lateral sclerosis type 2,TRUE,FALSE,Active +GARD:9472,Active,Orphanet,ORPHA:251630,Disorder,[Disease],Anaplastic oligodendroglioma,,"A rare glial tumor characterized by a grade III oligodendroglial tumour with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with pleomorphic and increased size nuclei, a vesicular chromatin pattern and prominent nucleoli. Most patients present with seizures.","[137800, 616568]",,,,,Anaplastic oligodendroglioma,TRUE,FALSE,Active +GARD:9473,Legacy,GARD,,,,,,,,,,,,Peroxisomal biogenesis disorders ,TRUE,FALSE,Active +GARD:9474,Active,Orphanet,ORPHA:2485,Disorder,[Malformation syndrome],Melorheostosis,,"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.",[155950],,,,,Melorheostosis,TRUE,FALSE,Active +GARD:9475,Legacy,GARD,,,,,,,,,,,,Dysautonomia like disorder,TRUE,FALSE,Active +GARD:9476,Legacy,GARD,,,,,,,,,,,,Impairment of oral perception,TRUE,FALSE,Active +GARD:9477,Legacy,GARD,,,,,,,,,,,,Anaplastic small cell lymphoma,TRUE,FALSE,Active +GARD:9478,Legacy,GARD,,,,,,,,,,,,Supraglottic laryngeal cancer,TRUE,FALSE,Active +GARD:9479,Active,Orphanet,ORPHA:79311,Subtype of disorder,[Clinical subtype],Vitamin B12-responsive methylmalonic acidemia type cblB,"[Vitamin B12-responsive methylmalonic aciduria, type cblB]",,[251110],,,,,"Methylmalonic aciduria, cblB type",TRUE,FALSE,Active +GARD:9480,Legacy,GARD,,,,,,,,,,,,Familial dermographism,TRUE,FALSE,Active +GARD:9481,Active,Orphanet,ORPHA:88924,Disorder,[Disease],Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,"[PKDTS, TSC2/PKD1 contiguous gene syndrome, Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome]","A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).",[600273],,,,,"Polycystic kidneys, severe infantile with tuberous sclerosis",TRUE,FALSE,Active +GARD:9482,Legacy,GARD,,,,,,,,,,,,Sixth nerve palsy,TRUE,FALSE,Active +GARD:9484,Active,Orphanet,ORPHA:247245,Disorder,[Disease],Superficial siderosis,"[Hemosiderosis of the central nervous system, Superficial hemosiderosis of the CNS, Superficial hemosiderosis of the central nervous system, Superficial siderosis of the CNS, Superficial siderosis of the central nervous system]","Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.",,,,,,Superficial siderosis of the central nervous system,TRUE,FALSE,Active +GARD:9485,Active,Orphanet+OMIM,OMIM:137750,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, a","[Glaucoma, primary open angle, juvenile-onset, 1]",,[137750],[98977],[Juvenile glaucoma],[16883],,Primary open angle glaucoma juvenile onset 1,TRUE,FALSE,Active +GARD:9486,Active,Orphanet,ORPHA:88620,Disorder,[Disease],Isolated congenital anosmia,,"This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome (see this term).",[107200],,,,,Congenital anosmia,TRUE,FALSE,Active +GARD:9487,Active,Orphanet,ORPHA:2674,Disorder,[Malformation syndrome],Cyprus facial-neuromusculoskeletal syndrome,,"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.",[123853],,,,,Cyprus facial neuromusculoskeletal syndrome,TRUE,FALSE,Active +GARD:9488,Legacy,GARD,,,,,,,,,,,,Van Buchem disease type 2,TRUE,FALSE,Active +GARD:9489,Active,Orphanet,ORPHA:180188,Disorder,[Morphological anomaly],Isolated congenital breast hypoplasia/aplasia,[Isolated congenital amastia],"A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies.","[113700, 616001]",,,,,Absent breasts and nipples,TRUE,FALSE,Active +GARD:9490,Legacy,GARD,,,,,,,,,,,,Flat umbilicus familial,TRUE,FALSE,Active +GARD:9491,Active,Orphanet+OMIM,OMIM:608553,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 9,,"Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by {7:Koenekoop et al., 2012}). NMNAT1 mutations have been observed to cause severe and rapidly progressive macular degeneration, leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve ({10:Perrault et al., 2012}). Some patients present with later onset and milder phenotype than typical LCA ({8:Kumaran et al., 2021}).\n\nFor a general discussion of the phenotypic and genetic heterogeneity in Leber congenital amaurosis, see LCA1 ({204000}).",[608553],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 9,TRUE,FALSE,Active +GARD:9492,Active,Orphanet+OMIM,OMIM:609376,Subtype of disorder,[Clinical subtype],Cataract 35,,,[609376],[98991],[Early-onset nuclear cataract],[16887],,Autosomal recessive nonsyndromic congenital nuclear cataract,TRUE,FALSE,Active +GARD:9493,Active,Orphanet,ORPHA:602,Disorder,[Disease],GNE myopathy,"[DMRV, Distal myopathy with rimmed vacuoles, Distal myopathy, Nonaka type, HIBM2, Hereditary inclusion body myopathy type 2, IBM2, Inclusion body myopathy type 2, Nonaka myopathy, Quadriceps-sparing myopathy]","GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.","[617158, 605820]",,,,,Inclusion body myopathy 2,TRUE,FALSE,Active +GARD:9494,Active,Orphanet,ORPHA:79091,Disorder,[Disease],Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,"[HIBM3, Hereditary inclusion body myopathy type 3, IBM3, Inclusion body myopathy type 3]","A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.",[605637],,,,,Inclusion body myopathy 3,TRUE,FALSE,Active +GARD:9495,Active,Orphanet+OMIM,OMIM:204700,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia1","[Amelogenesis imperfecta, pigmented hypomaturation type, 1]","Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({4:Witkop, 1989}).\n\n<Subhead> Genetic Heterogeneity of the Hypomaturation Type of Amelogenesis Imperfecta\n\nSee also AI2A2 ({612529}), caused by mutation in the MMP20 gene ({604629}); AI2A3 ({613211}), caused by mutation in the WDR72 gene ({613214}); and AI2A4 ({614832}), caused by mutation in the C4ORF26 gene ({614829}).",[204700],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,Amelogenesis imperfecta pigmented hypomaturation type,TRUE,FALSE,Active +GARD:9496,Active,Orphanet,ORPHA:94088,Disorder,[Malformation syndrome],Hereditary renal hypouricemia,,A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF).,"[612076, 307830, 242050, 220150]",,,,,Renal hypouricemia,TRUE,FALSE,Active +GARD:9497,Legacy,GARD,,,,,,,,,,,,Ichthyosis hystrix gravior,TRUE,FALSE,Retired +GARD:9498,Legacy,GARD,,,,,,,,,,,,"Escobar syndrome, type B",TRUE,FALSE,Retired +GARD:9499,Active,Orphanet,ORPHA:48818,Disorder,[Disease],Aceruloplasminemia,[Hereditary ceruloplasmin deficiency],"A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.",[604290],,,,,Aceruloplasminemia,TRUE,FALSE,Active +GARD:95,Active,Orphanet,ORPHA:2576,Disorder,[Malformation syndrome],Mulibrey nanism,"[MUL, Mulibrey growth disorder, Muscle-liver-brain-eye nanism]",A rare developmental defect during embryogenesis characterized by growth delay and multiorgan manifestations.,[253250],,,,,Mulibrey Nanism,TRUE,FALSE,Active +GARD:9500,Legacy,GARD,,,,,,,,,,,,"Tremor hereditary essential, 2",TRUE,FALSE,Active +GARD:9501,Active,Orphanet,ORPHA:53372,Disorder,[Disease],Hereditary geniospasm,"[Familial trembling of the chin, Hereditary chin myoclonus, Hereditary chin-trembling]",Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.,[190100],,,,,Hereditary geniospasm,TRUE,FALSE,Active +GARD:9502,Legacy,GARD,,,,,,,,,,,,Familial neurocardiogenic syncope,TRUE,FALSE,Active +GARD:9503,Legacy,GARD,,,,,,,,,,,,Anterior polar cataract 2,TRUE,FALSE,Retired +GARD:9504,Active,Orphanet+OMIM,OMIM:607728,Subtype of disorder,[Disease subtype],"Porokeratosis 4, disseminated superficial actinic type",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({1:Schamroth et al., 1997}). However, as noted by {2:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members as well as individuals expressing more than one variant have been reported, suggesting that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {3:Wu et al., 2004} and {6:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[607728],[79152],[Disseminated superficial actinic porokeratosis],[10983],,"Porokeratosis, disseminated superficial actinic 2",TRUE,FALSE,Active +GARD:9505,Active,Orphanet+OMIM,OMIM:175900,Subtype of disorder,[Disease subtype],"Porokeratosis 3, multiple types","[Porokeratosis, disseminated superficial actinic, 1]","Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({12:Schamroth et al., 1997}). However, as noted by {13:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear porokeratosis.\n\nThe preferred title of this entry was formerly 'Porokeratosis 3, Disseminated Superficial Actinic Type; POROK3.'\n\nDisseminated superficial actinic porokeratosis is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {15:Wu et al., 2004} and {18:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[175900],"[735, 79152]","[Porokeratosis of Mibelli, Disseminated superficial actinic porokeratosis]","[4438, 10983]",,"Porokeratosis, disseminated superficial actinic 1",TRUE,FALSE,Active +GARD:9506,Active,Orphanet,ORPHA:85199,Disorder,[Malformation syndrome],Craniosynostosis-anal anomalies-porokeratosis syndrome,"[CAP syndrome, CDAGS syndrome]","Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).",[603116],,,,,"Craniosynostosis, anal anomalies, and porokeratosis",TRUE,FALSE,Active +GARD:9507,Legacy,GARD,,,,,,,,,,,,Cornea guttata with anterior polar cataract,TRUE,FALSE,Active +GARD:9508,Active,Orphanet,ORPHA:98989,Subtype of disorder,[Clinical subtype],Cerulean cataract,[Blue-dot cataract],"A type of hereditary congenital cataract, distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus, and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.","[115660, 614422]",,,,,Cerulean cataract,TRUE,FALSE,Active +GARD:9509,Active,Orphanet,ORPHA:3242,Disorder,[Malformation syndrome],Renpenning syndrome,"[X-linked intellectual disability due to PQBP1 mutations, X-linked intellectual disability, Renpenning type]","Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.",[309500],,,,,Renpenning syndrome,TRUE,FALSE,Active +GARD:951,Legacy,GARD,,,,,,,,,,,,Bowen syndrome,TRUE,FALSE,Retired +GARD:9511,Active,Orphanet,ORPHA:137675,Disorder,[Disease],Histiocytoid cardiomyopathy,"[Foamy myocardial transformation of infancy, Infantile cardiomyopathy with histiocytoid change, Infantile xanthomatous cardiomyopathy, Oncocytic cardiomyopathy]","A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.","[500000, 212080]",,,,,Infantile histiocytoid cardiomyopathy,TRUE,FALSE,Active +GARD:9512,Legacy,GARD,,,,,,,,,,,,Ainhum,TRUE,FALSE,Active +GARD:9513,Legacy,GARD,,,,,,,,,,,,Linear scleroderma,TRUE,FALSE,Active +GARD:9514,Active,Orphanet,ORPHA:180261,Disorder,[Disease],Phyllodes tumor of the breast,,"A rare fibroepithelial neoplasm usually presenting in adult females with a well circumscribed mobile masses that grow rapidly and sometimes with additional non-specific symptoms such as dilated skin veins, nipple retraction, skin ulcers, palpable axillary lymphadenopathy or blue discoloration of the skin. The neoplasm can be benign or malignant.",,,,,,Phyllodes tumor of the breast,TRUE,FALSE,Active +GARD:9515,Legacy,GARD,,,,,,,,,,,,Linear porokeratosis,TRUE,FALSE,Active +GARD:9516,Legacy,GARD,,,,,,,,,,,,Febrile Ulceronecrotic Mucha-Habermann disease,TRUE,FALSE,Active +GARD:9517,Active,Orphanet,ORPHA:97364,Subtype of disorder,[Clinical subtype],Bilateral multicystic dysplastic kidney,"[Bilateral MCDK, Bilateral multicystic renal dysplasia]","A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.",,,,,,"Multicystic renal dysplasia, bilateral",TRUE,FALSE,Active +GARD:9518,Legacy,GARD,,,,,,,,,,,,Ankylosing spondylitis,FALSE,FALSE,Active +GARD:9519,Legacy,GARD,,,,,,,,,,,,Autoimmune myocarditis,TRUE,FALSE,Active +GARD:9520,Legacy,GARD,,,,,,,,,,,,Buruli ulcer,TRUE,FALSE,Active +GARD:9521,Legacy,GARD,,,,,,,,,,,,CD3 deficiency,TRUE,FALSE,Active +GARD:9522,Legacy,GARD,,,,,,,,,,,,Chancroid,TRUE,FALSE,Active +GARD:9523,Legacy,GARD,,,,,,,,,,,,CD4 deficiency,TRUE,FALSE,Active +GARD:9525,Active,Orphanet,ORPHA:228123,Disorder,[Disease],Coccidioidomycosis,"[California disease, Coccidioides infection, Desert fever, Desert rheumatism, San Joaquin valley fever, Valley fever]","Coccidioidomycosis is a fungal infection caused by Coccidioides immitis and C. posadasii, which is endemic to the Southwestern United States, Central America, South America and Mexico, and is acquired by inhalation of the infective arthroconidia, often found in soil. In most cases it is a benign, self-limiting febrile illness, but in a minority of cases it can become a potentially lethal infection of the lungs and, extremely rarely, spread to other organs (through hematogenous dissemination) with manifestations including meningitis, osteomyelitis, and skin and soft-tissue involvement.",,,,,,Coccidioidomycosis,TRUE,FALSE,Active +GARD:9526,Legacy,GARD,,,,,,,,,,,,Complement component deficiency,TRUE,FALSE,Active +GARD:9527,Legacy,GARD,,,,,,,,,,,,Complement receptor deficiency,TRUE,FALSE,Active +GARD:9528,Active,Orphanet,ORPHA:210,Disorder,[Disease],Cyclosporosis,,"Cyclosporosis is a parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health.",,,,,,Cyclosporiasis,TRUE,FALSE,Active +GARD:9529,Legacy,GARD,,,,,,,,,,,,Cytokine deficiency,TRUE,FALSE,Active +GARD:953,Active,Orphanet,ORPHA:2292,Disorder,[Malformation syndrome],Congenital bowing of long bones,,"A rare primary bone dysplasia characterized by congenital symmetric or asymmetric shortness and bowing of long bones, resulting in shortness of limbs and limited extension at the knees and elbows. Additional reported features are ''beaten metal'' appearance of the skull, dolichomacrocephaly, ocular hypertelorism, and anterior beaking and bone-within-bone appearance of vertebrae. There have been no further descriptions in the literature since 1993.","[211355, 264050]",,,,,Bowing of long bones congenital,TRUE,FALSE,Active +GARD:9530,Legacy,GARD,,,,,,,,,,,,Cytokine receptor deficiency,TRUE,FALSE,Active +GARD:9531,Legacy,GARD,,,,,,,,,,,,Cytomegalovirus retinitis,TRUE,FALSE,Active +GARD:9532,Legacy,GARD,,,,,,,,,,,,Granuloma Inguinale,TRUE,FALSE,Active +GARD:9534,Active,Orphanet,ORPHA:2566,Disorder,[Disease],Chronic Epstein-Barr virus infection syndrome,"[CAEBV syndrome, Chronic EBV infection syndrome]","Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.",[226990],,,,,Chronic active Epstein-Barr virus infection,TRUE,FALSE,Active +GARD:9535,Active,Orphanet,ORPHA:47045,Disorder,[Disease],Familial cold urticaria,"[FCAS, FCU, Familial cold autoinflammatory syndrome]","Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.","[120100, 616115]",,,,,Familial cold autoinflammatory syndrome,TRUE,FALSE,Active +GARD:9536,Legacy,GARD,,,,,,,,,,,,Glanders,TRUE,FALSE,Active +GARD:9537,Legacy,GARD,,,,,,,,,,,,Haemophilus influenzae,TRUE,FALSE,Active +GARD:954,Legacy,GARD,,,,,,,,,,,,Boylan Dew Greco syndrome,TRUE,FALSE,Active +GARD:9541,Legacy,GARD,,,,,,,,,,,,Hepatitis E,TRUE,FALSE,Active +GARD:9542,Legacy,GARD,,,,,,,,,,,,Herpes simiae (B virus),TRUE,FALSE,Active +GARD:9544,Legacy,GARD,,,,,,,,,,,,Leucocyte adhesion defect,TRUE,FALSE,Retired +GARD:9545,Legacy,GARD,,,,,,,,,,,,Lymphogranuloma venereum,TRUE,FALSE,Active +GARD:9546,Active,Orphanet,ORPHA:31202,Disorder,[Disease],Melioidosis,,"A rare infectious disease caused by the Gram-negative bacillus Burkholderia (pseudomonas) pseudomallei, also called Whitmore bacillus. The infection can be acute, subacute, or chronic and affects the skin, the lungs, or the whole body.",[615557],,,,,Melioidosis,TRUE,FALSE,Active +GARD:9547,Legacy,GARD,,,,,,,,,,,,Meningococcal infection,TRUE,FALSE,Active +GARD:9548,Legacy,GARD,,,,,,,,,,,,MHC class 1 deficiency,TRUE,FALSE,Active +GARD:9549,Legacy,GARD,,,,,,,,,,,,"Nasal polyposis, familial",TRUE,FALSE,Retired +GARD:955,Active,Orphanet,ORPHA:1299,Disorder,[Malformation syndrome],Branchioskeletogenital syndrome,"[BSG syndrome, Elsahy-Waters syndrome]","Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.",[211380],,,,,Brachioskeletogenital syndrome,TRUE,FALSE,Active +GARD:9550,Active,Orphanet,ORPHA:576370,Disorder,[Disease],Variant Creutzfeldt-Jakob disease,"[Variant MCJ, vCJD]","A rare acquired human prion disease characterized by a progressive, invariably fatal neuropsychiatric disorder resulting from transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual. Patients typically present early psychiatric symptoms (such as depression, anxiety, apathy, withdrawal, and delusions), as well as persistent painful sensory symptoms, ataxia, myoclonus, chorea, or dystonia, and dementia. Brain MRI often shows bilateral FLAIR hyperintensities involving the pulvinar thalamic nuclei. Neuropathological examination reveals spongiform change and extensive deposition of abnormal prion protein with florid plaques throughout the cerebrum and cerebellum.",,,,,,Variant Creutzfeldt-Jakob disease,TRUE,FALSE,Active +GARD:9551,Legacy,GARD,,,,,,,,,,,,Bronchiolitis obliterans,TRUE,FALSE,Active +GARD:9552,Legacy,GARD,,,,,,,,,,,,Polyomavirus allograft nephropathy,TRUE,FALSE,Active +GARD:9553,Active,Orphanet,ORPHA:70568,Disorder,[Disease],Post-transplant lymphoproliferative disease,[PTLD],"A group of rare immunodeficiency-associated lymphoproliferative disorders characterized by lymphoid or plasmacytic proliferations developing in the context of immunosuppression in a recipient of a solid organ or stem cell allograft. The group includes non-destructive post-transplant lymphoproliferative disorders (PTLDs), polymorphic PTLD, monomorphic PTLDs, and classic Hodgkin lymphoma PTLD. Patients may have more than one type of PTLD in a single or in different locations. The most commonly involved sites are lymph nodes, gastrointestinal tract, lungs, and liver, although the disease may occur almost anywhere in the body. In solid organ transplant recipients, PTLD may also involve the allograft.",,,,,,Post-transplant lymphoproliferative disease,TRUE,FALSE,Active +GARD:9554,Legacy,GARD,,,,,,,,,,,,Primary amebic meningoencephalitis,TRUE,FALSE,Active +GARD:9557,Active,Orphanet,ORPHA:31205,Disorder,[Disease],Rat-bite fever,,"Rat-bite fever (RBF) is a systemic bacterial zoonosis occurring in individuals that have been bitten or scratched by Streptobacillus moniliformis or Spirillum minus-infected rats and characterized by high fever, a rash on the extremities, and arthralgia.",,,,,,Rat bite fever,TRUE,FALSE,Active +GARD:9558,Active,Orphanet,ORPHA:486,Disorder,[Disease],Autosomal dominant severe congenital neutropenia,,"A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.","[613107, 257100, 618752, 202700]",,,,,Severe congenital neutropenia autosomal dominant,TRUE,FALSE,Active +GARD:9559,Legacy,GARD,,,,,,,,,,,,Staphylococcal food poisoning,TRUE,FALSE,Active +GARD:9560,Active,Orphanet,ORPHA:36234,Disorder,[Disease],Bacterial toxic-shock syndrome,[Bacterial TSS],"Bacterial toxic shock syndrome (TSS) is a potentially fatal, acute disease characterized by a sudden onset of high fever along with nausea, myalgia, vomiting and multisystem organ involvement, potentially leading to shock and death. TSS is mediated by superantigenic toxins, usually caused by an infection with Staphylococcus aureus in staphylococcal TSS (see this term) or Streptococcus pyogenes in streptococcal TSS (see this term).",,,,,,Staphylococcal toxic shock syndrome,TRUE,FALSE,Active +GARD:9561,Legacy,GARD,,,,,,,,,,,,Streptococcal Group A invasive disease,TRUE,FALSE,Active +GARD:9563,Legacy,GARD,,,,,,,,,,,,Neonatal systemic lupus erythematosus,TRUE,FALSE,Active +GARD:9564,Active,Orphanet,ORPHA:99745,Disorder,[Disease],Typhoid,"[Typhoid fever, Typhoidal salmonellosis]","Typhoid or typhoid fever is a reportable, fecal-oral, potentially fatal infectious disease, caused by the bacteria Salmonella typhi and characterized by a non-focal fever.",,,,,,Typhoid fever,TRUE,FALSE,Active +GARD:9565,Legacy,GARD,,,,,,,,,,,,Vasculitis,FALSE,FALSE,Active +GARD:9568,Active,Orphanet,ORPHA:49041,Subtype of disorder,[Clinical subtype],IgG4-related retroperitoneal fibrosis,"[Idiopathic retroperitoneal fibrosis, Ormond disease]","A rare systemic autoimmune disease characterized by mass-forming, potentially destructive inflammation and fibrosis in the soft tissues of the retroperitoneum, associated with elevation of serum IgG4 levels and infiltration of IgG4-positive plasma cells in at least one organ or site. Most frequent locations are peripheral to the abdominal aorta, as well as the iliac and renal arteries. Clinical symptoms are unspecific and include abdominal pain, back pain, and edema of the lower extremities. The condition may occur together with IgG4-related disease in other parts of the body.",[228800],,,,,Retroperitoneal fibrosis,TRUE,FALSE,Active +GARD:9569,Active,Orphanet,ORPHA:31112,Disorder,[Disease],Dermatofibrosarcoma protuberans,[DFSP],"Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).",[607907],,,,,Dermatofibrosarcoma protuberans,TRUE,FALSE,Active +GARD:957,Active,Orphanet,ORPHA:1519,Disorder,[Malformation syndrome],SPECC1L-related hypertelorism syndrome,"[Brachycephalofrontonasal dysplasia, Teebi hypertelorism syndrome]","A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects.",[145420],,,,,Brachycephalofrontonasal dysplasia,TRUE,FALSE,Active +GARD:9570,Legacy,GARD,,,,,,,,,,,,Acral lentiginous melanoma,TRUE,FALSE,Active +GARD:9571,Active,Orphanet,ORPHA:422526,Disorder,[Disease],Hereditary clear cell renal cell carcinoma,[Hereditary clear cell renal cell adenocarcinoma],"Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome.",[144700],,,,,Hereditary renal cell carcinoma,TRUE,FALSE,Active +GARD:9572,Active,Orphanet,ORPHA:319298,Disorder,[Disease],Papillary renal cell carcinoma,[Papillary renal cell adenocarcinoma],"Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.",,,,,,Papillary renal cell carcinoma,TRUE,FALSE,Active +GARD:9573,Active,Orphanet,ORPHA:247203,Disorder,[Disease],Collecting duct carcinoma,"[BDC, Bellini carcinoma, Bellini duct carcinoma, CDC]","Collecting duct carcinoma is a rare, aggressive subtype of renal cell carcinoma, which originates from the epithelium of the distal collecting ducts, and usually manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Patients are often asymptomatic for long periods of time and therefore, disease is often locally advanced or metastatic at the time of diagnosis. In cases with metastatic spread, bone pain, cough, dyspnea, pneumonia or neurological compromise may be associated.",,,,,,Collecting duct carcinoma,TRUE,FALSE,Active +GARD:9574,Active,Orphanet,ORPHA:319276,Disorder,[Disease],Clear cell renal carcinoma,"[CCRCC, Clear cell renal cell adenocarcinoma, Clear cell renal cell carcinoma]","A rare renal tumor arising from proximal tubular epithelial cells of the renal cortex, characterized histologically by malignant epithelial cells with typical clear cytoplasm in conventional staining methods due to a high glycogen and lipid content, featuring a nested growth pattern. Clinically it may present with hematuria, flank pain, anemia or, less commonly, a palpable abdominal mass.",,,,,,Clear cell renal cell carcinoma,TRUE,FALSE,Active +GARD:9575,Legacy,GARD,,,,,,,,,,,,Chromophil renal cell carcinoma,TRUE,FALSE,Active +GARD:9576,Legacy,GARD,,,,,,,,,,,,Wittwer Syndrome,TRUE,FALSE,Retired +GARD:9578,Active,Orphanet,ORPHA:243367,Disorder,[Disease],Acute fatty liver of pregnancy,[AFLP],"A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.",,,,,,Acute fatty liver of pregnancy,TRUE,FALSE,Active +GARD:9579,Legacy,GARD,,,,,,,,,,,,Human spumaretrovirus infection,TRUE,FALSE,Active +GARD:958,Active,Orphanet,ORPHA:1272,Disorder,[Malformation syndrome],Aymé-Gripp syndrome,"[Brachycephaly-deafness-cataract-intellectual disability syndrome, Brachycephaly-hearing loss-cataract-intellectual disability syndrome, Fine-Lubinsky syndrome]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder.","[601353, 601088]",,,,,Fine-Lubinsky syndrome,TRUE,FALSE,Active +GARD:9580,Legacy,GARD,,,,,,,,,,,,Mesangial proliferative glomerulonephritis,TRUE,FALSE,Active +GARD:9581,Active,Orphanet,ORPHA:100996,Disorder,[Disease],Autosomal recessive spastic paraplegia type 15,"[Hereditary spastic paraparesis type 15, Kjellin syndrome, SPG15, Spastic paraplegia-retinal degeneration syndrome]","Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.",[270700],,,,,Spastic paraplegia 15,TRUE,FALSE,Active +GARD:9582,Active,Orphanet,ORPHA:101005,Disorder,[Disease],Autosomal recessive spastic paraplegia type 25,"[Autosomal recessive spastic paraplegia-disc herniation syndrome, SPG25]","Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.",[608220],,,,,Spastic paraplegia 25,TRUE,FALSE,Active +GARD:9583,Active,Orphanet,ORPHA:447753,Disorder,[Disease],Autosomal dominant spastic paraplegia type 9A,"[AD-SPG9A, Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome, Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome]","A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others.",[601162],,,,,Spastic paraplegia 9,TRUE,FALSE,Active +GARD:9584,Legacy,GARD,,,,,,,,,,,,Vibrio vulnificus infection,TRUE,FALSE,Active +GARD:9585,Active,Orphanet,ORPHA:100997,Disorder,[Disease],X-linked spastic paraplegia type 16,[SPG16],"A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.",[300266],,,,,Spastic paraplegia 16,TRUE,FALSE,Active +GARD:9586,Active,Orphanet,ORPHA:100993,Disorder,[Disease],Autosomal dominant spastic paraplegia type 12,[SPG12],"A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.",[604805],,,,,Spastic paraplegia 12,TRUE,FALSE,Active +GARD:9587,Active,Orphanet,ORPHA:101006,Disorder,[Disease],Autosomal recessive spastic paraplegia type 26,"[GM2 synthase deficiency, SPG26]","Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.",[609195],,,,,Spastic paraplegia 26,TRUE,FALSE,Active +GARD:9588,Active,Orphanet,ORPHA:100999,Disorder,[Disease],Autosomal dominant spastic paraplegia type 19,[SPG19],"A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.",[607152],,,,,Spastic paraplegia 19,TRUE,FALSE,Active +GARD:9589,Active,Orphanet,ORPHA:100995,Disorder,[Disease],Autosomal recessive spastic paraplegia type 14,[SPG14],"Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.",[605229],,,,,Spastic paraplegia 14,TRUE,FALSE,Active +GARD:959,Legacy,GARD,,,,,,,,,,,,Brachydactyly types B and E combined,TRUE,FALSE,Active +GARD:9590,Active,Orphanet,ORPHA:100991,Disorder,[Disease],Autosomal dominant spastic paraplegia type 10,[SPG10],"A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported.",[604187],,,,,Spastic paraplegia 10,TRUE,FALSE,Active +GARD:9591,Active,Orphanet,ORPHA:100989,Disorder,[Disease],Autosomal dominant spastic paraplegia type 8,[SPG8],"A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia.",[603563],,,,,Spastic paraplegia 8,TRUE,FALSE,Active +GARD:9592,Legacy,GARD,,,,,,,,,,,,Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,FALSE,FALSE,Active +GARD:9593,Legacy,GARD,,,,,,,,,,,,Familial hypersecretion of adrenal androgens,TRUE,FALSE,Active +GARD:9595,Active,Orphanet,ORPHA:1195,Disorder,[Disease],Congenital atransferrinemia,[Congenital hypotransferrinemia],"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.",[209300],,,,,Atransferrinemia,TRUE,FALSE,Active +GARD:9596,Legacy,GARD,,,,,,,,,,,,Acquired amegakaryocytic thrombocytopenia,TRUE,FALSE,Active +GARD:9597,Legacy,GARD,,,,,,,,,,,,Postural orthostatic tachycardia syndrome,FALSE,FALSE,Active +GARD:9598,Active,Orphanet+OMIM,OMIM:114100,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, childhood-onset","[cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset, striopallidodentate calcinosis, bilateral, childhood-onset, Ibgc, childhood-onset]","Bilateral striopallidodentate calcinosis, also known as idiopathic basal ganglia calcification (IBGC), is characterized by the accumulation of calcium deposits in different brain regions and is associated with a neurodegenerative clinical phenotype. The changes seen in IBGC occur in the absence of calcium or parathyroid hormone (PTH; {168450}) metabolic disorders, such as hypoparathyroidism (see {146200}) or pseudohypoparathyroidism (PHP; see {103580}).\n\nSee also the adult-onset form ({213600}), which is sometimes erroneously referred to as 'Fahr disease.'",[114100],[51],[Aicardi-Goutières syndrome],[575],,Idiopathic basal ganglia calcification childhood-onset,TRUE,FALSE,Active +GARD:9599,Legacy,GARD,,,,,,,,,,,,"Nystagmus 2, congenital, autosomal dominant",TRUE,FALSE,Active +GARD:960,Active,Orphanet,ORPHA:2619,Disorder,[Disease],"Brachydactylous dwarfism, Mseleni type",[Mseleni joint disease],"A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.",[613342],,,,,Brachydactylous dwarfism Mseleni type,TRUE,FALSE,Active +GARD:9600,Legacy,GARD,,,,,,,,,,,,"Nystagmus 3, congenital, autosomal dominant",TRUE,FALSE,Active +GARD:9601,Legacy,GARD,,,,,,,,,,,,"Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response",TRUE,FALSE,Active +GARD:9602,Active,Orphanet,ORPHA:97,Disorder,[Disease],Familial paroxysmal ataxia,[Episodic ataxia type 2],"A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.",[108500],,,,,Episodic ataxia with nystagmus,TRUE,FALSE,Active +GARD:9603,Legacy,GARD,,,,,,,,,,,,"Nystagmus 4, congenital, autosomal dominant",TRUE,FALSE,Active +GARD:9604,Legacy,GARD,,,,,,,,,,,,"Nystagmus, hereditary vertical",TRUE,FALSE,Active +GARD:9605,Legacy,GARD,,,,,,,,,,,,"Nystagmus, myoclonic",TRUE,FALSE,Active +GARD:9606,Legacy,GARD,,,,,,,,,,,,"Chorea, remitting with nystagmus and cataracts",TRUE,FALSE,Active +GARD:9607,Legacy,GARD,,,,,,,,,,,,"Tremors, nystagmus and duodenal ulcers",TRUE,FALSE,Retired +GARD:9609,Legacy,GARD,,,,,,,,,,,,"Nystagmus, congenital motor, autosomal recessive",TRUE,FALSE,Active +GARD:961,Legacy,GARD,,,,,,,,,,,,Brachydactyly absence of distal phalanges,TRUE,FALSE,Active +GARD:9610,Legacy,GARD,,,,,,,,,,,,Microphthalmia with cataract 1,TRUE,FALSE,Active +GARD:9611,Active,Orphanet,ORPHA:98768,Disorder,[Disease],Spinocerebellar ataxia type 13,[SCA13],Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.,[605259],,,,,Spinocerebellar ataxia 13,TRUE,FALSE,Active +GARD:9612,Legacy,GARD,,,,,,,,,,,,Rud Syndrome,TRUE,FALSE,Active +GARD:9615,Active,Orphanet,ORPHA:397,Disorder,[Disease],Giant cell arteritis,"[Horton disease, Temporal arteritis]","A rare large vessel vasculitis (LVV) characterized by vasculitis predominantly involving the arteries originating from the aortic arch and the extracranial branches of the carotid arteries. Clinical manifestations are variable, the predominant cranial phenotype is characterized by headache, jaw claudication, scalp tenderness and visual symptoms and the predominant LVV type by constitutional symptoms, polymyalgia rheumatica and occasionally limb ischemia. Overlaps between these two phenotypes are common.",[187360],,,,,Giant cell arteritis,TRUE,FALSE,Active +GARD:9616,Active,Orphanet,ORPHA:100994,Disorder,[Disease],Autosomal dominant spastic paraplegia type 13,[SPG13],"A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense.",[605280],,,,,Spastic paraplegia 13,TRUE,FALSE,Active +GARD:9617,Legacy,GARD,,,,,,,,,,,,Desmoplastic infantile astrocytoma,TRUE,FALSE,Active +GARD:9618,Legacy,GARD,,,,,,,,,,,,Granular cell tumor,TRUE,FALSE,Active +GARD:9619,Legacy,GARD,,,,,,,,,,,,Actinic cheilitis,TRUE,FALSE,Active +GARD:962,Legacy,GARD,,,,,,,,,,,,Brachydactyly anonychia,TRUE,FALSE,Active +GARD:9620,Active,Orphanet,ORPHA:318,Disorder,[Disease],Acute erythroid leukemia,"[AML M6, Acute myeloid leukemia M6, Erythroleukemia]","A rare unclassified acute myeloid leukemia characterized by a proliferation of immature cells exclusively of the erythroid lineage without a significant myeloblastic component. Microscopically, the cells may be undifferentiated or proerythroblastic in appearance. Patients may present with pancytopenia with fatigue, infections, and mucocutaneous bleedings, as well as weight loss, fever, and night sweats. Prognosis is poor.",[133180],,,,,Acute erythroid leukemia,TRUE,FALSE,Active +GARD:9621,Active,Orphanet,ORPHA:180229,Disorder,[Disease],Polyembryoma,,"A rare malignant germ cell tumor characterized by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumor component. The tumor usually occurs as the dominant component of a mixed germ cell tumor, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated.",,,,,,Polyembryoma,TRUE,FALSE,Active +GARD:9622,Legacy,GARD,,,,,,,,,,,,Polymorphic reticulosis,TRUE,FALSE,Active +GARD:9623,Legacy,GARD,,,,,,,,,,,,Tylosis,TRUE,FALSE,Retired +GARD:9624,Legacy,GARD,,,,,,,,,,,,Bednar tumor,TRUE,FALSE,Active +GARD:9625,Legacy,GARD,,,,,,,,,,,,Rheumatoid nodulosis,TRUE,FALSE,Active +GARD:9626,Active,Orphanet+OMIM,OMIM:602482,Subtype of disorder,"[Morphological anomaly subtype, Malformation syndrome subtype]","Axenfeld-rieger syndrome, type 3","[rieger syndrome, type 3, anterior chamber cleavage syndrome, Axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss]",,[602482],"[91483, 98978, 782]","[Axenfeld-Rieger syndrome, Axenfeld anomaly, Rieger anomaly]","[16485, 16482, 5701]",,Axenfeld-Rieger syndrome type 3,TRUE,FALSE,Retired +GARD:9628,Active,Orphanet,ORPHA:71517,Disorder,[Disease],Rapid-onset dystonia-parkinsonism,"[DYT12, Dystonia 12]","Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.",[128235],,,,,Rapid-onset dystonia-parkinsonism,TRUE,FALSE,Active +GARD:9629,Legacy,GARD,,,,,,,,,,,,"Dystonia 15, myoclonic",TRUE,FALSE,Retired +GARD:963,Legacy,GARD,,,,,,,,,,,,Brachydactyly type A3,TRUE,FALSE,Active +GARD:9630,Active,Orphanet,ORPHA:98806,Disorder,[Disease],"Primary dystonia, DYT6 type","[DYT6, Generalized cervical and upper-limb-onset dystonia, Idiopathic torsion dystonia of mixed type]","A rare genetic movement disorder characterized by dystonia affecting at first an upper limb, less frequently beginning in the head and neck region, before slowly spreading to other locations. The clinical spectrum, like age of onset, is variable with focal, segmental, or generalized distribution, but cranial involvement with speech difficulties and cervical involvement are typical, whereas lower limbs are often spared. With progression of the disease, many patients suffer from generalized dystonia while mostly remaining ambulatory.",[602629],,,,,DYT-THAP1,TRUE,FALSE,Active +GARD:9631,Active,Orphanet+OMIM,OMIM:602554,Subtype of disorder,[Disease subtype],Torsion dystonia with onset in infancy,,"{1:Mostofsky et al. (1996)} reported a father and his daughter with torsion dystonia that could not be attributed to exogenous factors or other neurologic disorders. The first signs of the disorder in both patients appeared during the first year of life. The main manifestations included generalized dystonia with severe involvement of the legs and mild involvement of the face and arms, no progression of symptoms after 10 years of age, no evidence of parkinsonism, and no intellectual, cerebellar, or sensory involvement. Among 850 cases of idiopathic torsion dystonia ({128100}) collected from the literature, the authors found only 2 reports with onset before 3 years of age; the inheritance pattern in these 2 cases was not reported. No response to dopaminergic agents excluded dopa-responsive dystonia ({128230}). {1:Mostofsky et al. (1996)} suggested that the disorder in this family may represent a distinct autosomal dominant dystonia syndrome.",[602554],[256],[Early-onset generalized limb-onset dystonia],[2027],,Torsion dystonia with onset in infancy,TRUE,FALSE,Retired +GARD:9632,Active,Orphanet,ORPHA:77295,Subtype of disorder,[Clinical subtype],Odontoleukodystrophy,"[Dentoleukoencephalopathy, Leukodystrophy with oligodontia]",,[607694],,,,,POLR3-Related Leukodystrophy,TRUE,FALSE,Active +GARD:9633,Active,Orphanet+OMIM,OMIM:264420,Subtype of disorder,[Disease subtype],"Fundus dystrophy, pseudoinflammatory, recessive form","[Pfd, lavia type, pfd, finnish type]","Pseudoinflammatory fundus dystrophy was described by {6:Sorsby et al. (1949)} as a dominant disorder (see {136900}). The existence of a recessive form was suggested by several reports. From Finland, {3:Forsius et al. (1982)} reported a family in which both parents (who were related) were affected and all of their 8 children were also affected. Among collateral relatives, 3 other cases were found. All affected individuals over age 30 years had an 'exudative' process in the central part of the retina, often complicated at some stage by hemorrhages. The age of onset varied from the second to the fourth decade. Myopia increased rapidly in the active stages. The recessive form may have somewhat earlier age of onset on the average. An apparently recessive form was reported in 1 family by {5:Sorsby (1940)}. {4:Francois (1961)} reported 2 brothers who were thought to have the recessive form. {1:Eriksson et al. (1990)} provided follow-up on the family reported by {3:Forsius et al. (1982)}. They presented a pedigree documenting that the grandparents and parents of all 8 affected children were related in many ways. One of the 8 children had an affected daughter and an unaffected son. {1:Eriksson et al. (1990)} gave a comparison of the autosomal dominant and autosomal recessive forms of pseudoinflammatory fundus dystrophy, called by them the Sorsby type and the Lavia (Finnish) type, respectively. The Finnish type, thought to be inherited as an autosomal recessive, had earlier onset than the Sorsby type, with relatively rapid loss of visual acuity and striking peripheral retinal degeneration and secondary dyschromatopsia. Dark adaptation was normal in the Sorsby type and disturbed in the Lavia type.\n\nHowever, after heterozygous mutations in the gene encoding tissue inhibitor of metalloproteinases-3 (TIMP3; {188826}) were found as the cause of Sorsby fundus dystrophy, {2:Felbor et al. (1997)} restudied the Lavia kindred and showed that all affected members were heterozygous for a gly166-to-cys mutation in the TIMP3 gene ({188826.0004}) and provided strong evidence for an autosomal dominant inheritance of the Sorsby fundus dystrophy phenotype in this kindred. They concluded from all available data that SFD is a genetically homogeneous, although clinically heterogeneous, autosomal dominant disorder.",[264420],[59181],[Sorsby pseudoinflammatory fundus dystrophy],[16480],,Pseudoinflammatory fundus dystrophy,TRUE,FALSE,Active +GARD:9634,Active,Orphanet,ORPHA:994,Disorder,[Malformation syndrome],Fetal akinesia deformation sequence,"[Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome, FADS, Pena-Shokeir syndrome type 1]","The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.","[208150, 300073, 618388, 618389, 618393, 618975]",,,,,Fetal akinesia deformation sequence,TRUE,FALSE,Active +GARD:9635,Active,Orphanet,ORPHA:64745,Disorder,[Disease],Pruritic urticarial papules and plaques of pregnancy,"[PUPPP, Polymorphic eruption of pregnancy]","A rare skin disease characterized by urticarial papules and plaques with severe pruritus mainly on the abdomen, buttocks, and proximal thighs. The condition usually develops during the third trimester of the first pregnancy, although presentation in the postpartum period, which may also feature other types of skin lesions, has been described in some cases. The symptoms generally resolve within few weeks.",[178995],,,,,Pruritic urticarial papules plaques of pregnancy,TRUE,FALSE,Active +GARD:9636,Legacy,GARD,,,,,,,,,,,,Adenosarcoma of the uterus,TRUE,FALSE,Active +GARD:9637,Legacy,GARD,,,,,,,,,,,,Spastic diplegia cerebral palsy,TRUE,FALSE,Active +GARD:9640,Active,Orphanet,ORPHA:33110,Subtype of disorder,[Clinical subtype],Autosomal agammaglobulinemia,"[Agammaglobulinemia, non-Bruton type]","A rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.","[613506, 616941, 613500, 615214, 613501, 613502, 601495, 612692]",,,,,"Agammaglobulinemia, non-Bruton type",TRUE,FALSE,Active +GARD:9641,Legacy,GARD,,,,,,,,,,,,Rufous oculocutaneous albinism,TRUE,FALSE,Active +GARD:9642,Active,Orphanet+OMIM,OMIM:600116,Subtype of disorder,[Disease subtype],"Parkinson disease 2, autosomal recessive juvenile","[parkinsonism, early-onset, with diurnal fluctuation, Parkinson disease, juvenile, autosomal recessive]",,[600116],[2828],[Young-onset Parkinson disease],[16610],,Autosomal recessive juvenile Parkinson disease,TRUE,FALSE,Active +GARD:9643,Active,Orphanet,ORPHA:758,Disorder,[Disease],Pseudoxanthoma elasticum,"[Gronblad-Strandberg-Touraine syndrome, PXE]","A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls.","[177850, 264800]",,,,,Pseudoxanthoma elasticum,TRUE,FALSE,Active +GARD:9644,Legacy,GARD,,,,,,,,,,,,Multicentric Castleman Disease,TRUE,FALSE,Active +GARD:9645,Legacy,GARD,,,,,,,,,,,,Human T-cell leukemia virus type 1,TRUE,FALSE,Active +GARD:9646,Legacy,GARD,,,,,,,,,,,,Spinal muscular atrophy Ryukyuan type,TRUE,FALSE,Active +GARD:9647,Active,Orphanet,ORPHA:98957,Disorder,[Disease],Gelatinous drop-like corneal dystrophy,"[GDCD, Primary familial amyloidosis of the cornea, Subepithelial amyloidosis of the cornea]","Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.",[204870],,,,,Amyloidosis corneal,TRUE,FALSE,Active +GARD:9648,Legacy,GARD,,,,,,,,,,,,Medial Medullary Syndrome,TRUE,FALSE,Active +GARD:9649,Active,Orphanet+OMIM,OMIM:216900,Subtype of disorder,[Disease subtype],Achromatopsia 2,"[Colorblindness, total, rod monochromatism 2, rod monochromacy 2]","Total colorblindness, also referred to as rod monochromacy or complete achromatopsia, is a rare congenital autosomal recessive disorder characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colors. Electroretinographic recordings show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor responses are absent (summary by {7:Kohl et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Total Achromatopsia\n\nA form of achromatopsia previously designated achromatopsia-1 (ACHM1) was later found to be the same as achromatopsia-3 (ACHM3; {262300}), caused by mutation in the CNGB3 gene ({605080}). ACHM4 ({613856}) is caused by mutation in the GNAT2 gene ({139340}); ACHM5 ({613093}) is caused by mutation in the PDE6C gene ({600827}); ACHM6 (see {610024}) is caused by mutation in the PDE6H gene ({601190}); and ACHM7 ({616517}) is caused by mutation in the ATF6 gene ({605537}).",[216900],[49382],[Achromatopsia],[15015],,Achromatopsia 2,TRUE,FALSE,Active +GARD:965,Legacy,GARD,,,,,,,,,,,,Brachydactyly dwarfism mental retardation,TRUE,FALSE,Retired +GARD:9650,Active,Orphanet+OMIM,OMIM:262300,Subtype of disorder,[Disease subtype],Achromatopsia 3,"[achromatopsia with myopia, rod monochromacy 1, formerly, total colorblindness with myopia, Pingelapese blindness, achm1, formerly, rod monochromatism 1, formerly]",,[262300],[49382],[Achromatopsia],[15015],,Achromatopsia 3,TRUE,FALSE,Active +GARD:9651,Legacy,GARD,,,,,,,,,,,,Alpha mannosidosis type 2,TRUE,FALSE,Retired +GARD:9652,Active,Orphanet,ORPHA:352540,Disorder,[Disease],Oncogenic osteomalacia,"[Oncogenic hypophosphatemic osteomalacia, TIO, Tumor-induced osteomalacia]","A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children.",,,,,,Oncogenic osteomalacia,TRUE,FALSE,Active +GARD:9653,Legacy,GARD,,,,,,,,,,,,Anterior spinal artery stroke,TRUE,FALSE,Active +GARD:9654,Active,Orphanet,ORPHA:330058,Disorder,[Disease],Hydroa vacciniforme,,"A rare photodermatosis characterized by the development of pruritic or painful vesicles in a photodistributed pattern in response to sunlight exposure. The lesions heal with permanent varioliform scarring. Ocular involvement, deformities of ears and nose, or contractures of the fingers may occasionally be observed. Systemic signs and symptoms are absent. The condition typically occurs in childhood and regresses spontaneously in adolescence or young adulthood.",,,,,,Hydroa vacciniforme,TRUE,FALSE,Active +GARD:9655,Legacy,GARD,,,,,,,,,,,,Hyperacusis,TRUE,FALSE,Active +GARD:9656,Legacy,GARD,,,,,,,,,,,,Pectus carinatum,TRUE,FALSE,Active +GARD:9657,Active,Orphanet,ORPHA:93347,Disorder,[Disease],Anauxetic dysplasia,"[Spondyloepimetaphyseal dysplasia, Menger type, Spondyloepimetaphyseal dysplasia, anauxetic type]","A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present.","[618853, 607095, 617396]",,,,,Anauxetic dysplasia,TRUE,FALSE,Active +GARD:9658,Legacy,GARD,,,,,,,,,,,,Bartter syndrome antenatal type 2,TRUE,FALSE,Active +GARD:9659,Active,Orphanet,ORPHA:93605,Subtype of disorder,[Clinical subtype],Bartter syndrome type 3,[Bartter syndrome type III],"A form of Bartter syndrome characterized by a later age at onset than the other types of Bartter syndrome, typically presenting beyond the first year of life with failure to thrive, hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone and low to normal blood pressure.",[607364],,,,,Bartter syndrome type 3,TRUE,FALSE,Active +GARD:966,Active,Orphanet,ORPHA:1275,Disorder,[Malformation syndrome],Brachydactyly-elbow wrist dysplasia syndrome,"[Brachydactyly-joint dysplasia syndrome, Liebenberg syndrome]","Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.",[186550],,,,,Brachydactyly elbow wrist dysplasia,TRUE,FALSE,Active +GARD:9660,Legacy,GARD,,,,,,,,,,,,Amaurosis fugax,TRUE,FALSE,Active +GARD:9661,Active,Orphanet+OMIM,OMIM:604232,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 3,,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered retinitis pigmentosa ({5:Gu et al., 1997}). SPATA7-associated retinopathy shows a variable age at onset, ranging from infancy to adulthood, as well as phenotypic variability, including intrafamilial differences ({12:Wang et al., 2009}; {1:Avila-Fernandez et al., 2011}; {4:Feldhaus et al., 2018}; {10:Sengillo et al., 2018}).\n\n{8:Mackay et al. (2011)} concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}.\n\n<Subhead> Reviews\n\n{6:Kannabiran (2020)} reviewed reported SPATA7 mutations and the associated phenotypes. The author noted that there were no clear-cut correlations between genotype and phenotype, and that phenotypic heterogeneity had been observed among patients with the same mutation. Clinical variability was also often seen in patients with SPATA7 mutations, with some phenotypes resembling cone-rod dystrophy or choroideremia.",[604232],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 3,TRUE,FALSE,Active +GARD:9662,Active,Orphanet+OMIM,OMIM:604393,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 4,,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (LCA), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa ({3:Gu et al., 1997}). Various intermediate phenotypes between LCA and retinitis pigmentosa are known and are sometimes described as 'early-onset severe rod-cone dystrophy' or 'early-onset retinal degeneration' ({2:Booij et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}; for cone-rod dystrophy, see {120970}.",[604393],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 4,TRUE,FALSE,Active +GARD:9663,Legacy,GARD,,,,,,,,,,,,Buschke-Lowenstein tumor,TRUE,FALSE,Active +GARD:9664,Legacy,GARD,,,,,,,,,,,,Primary malignant melanoma of the cervix,TRUE,FALSE,Active +GARD:9665,Active,Orphanet,ORPHA:99914,Disorder,[Disease],Gynandroblastoma,,,,,,,,Gynandroblastoma,TRUE,FALSE,Active +GARD:9667,Legacy,GARD,,,,,,,,,,,,HHV-6 encephalitis,TRUE,FALSE,Active +GARD:9669,Legacy,GARD,,,,,,,,,,,,Laugier-Hunziker syndrome,TRUE,FALSE,Active +GARD:967,Active,Orphanet,ORPHA:1276,Disorder,[Malformation syndrome],Brachydactyly-arterial hypertension syndrome,"[Bilginturan brachydactyly, Bilginturan syndrome, Brachydactyly type E, with short stature and hypertension]","A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood.",[112410],,,,,Brachydactyly with hypertension,TRUE,FALSE,Active +GARD:9670,Active,Orphanet,ORPHA:329,Disorder,[Disease],Congenital factor XI deficiency,"[Hemophilia C, PTA deficiency, Plasma thromboplastin antecedent deficiency, Rosenthal factor deficiency, Rosenthal syndrome]","A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.",[612416],,,,,Factor XI deficiency,TRUE,FALSE,Active +GARD:9671,Legacy,GARD,,,,,,,,,,,,Lipodermatosclerosis,TRUE,FALSE,Active +GARD:9672,Legacy,GARD,,,,,,,,,,,,Double nails on the fifth toe,TRUE,FALSE,Active +GARD:9673,Active,Orphanet,ORPHA:2152,Disorder,[Malformation syndrome],Mowat-Wilson syndrome,[Hirschsprung disease-intellectual disability syndrome],"A rare multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.",[235730],,,,,Mowat-Wilson syndrome,TRUE,FALSE,Active +GARD:9674,Legacy,GARD,,,,,,,,,,,,Primary cortisol resistance,TRUE,FALSE,Retired +GARD:9675,Active,Orphanet,ORPHA:2306,Disorder,[Malformation syndrome],Isotretinoin-like syndrome,"[Kawashima syndrome, Microtia-aortic arch syndrome]",Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.,[243440],,,,,Isotretinoin embryopathy like syndrome,TRUE,FALSE,Active +GARD:9676,Active,Orphanet,ORPHA:45448,Disorder,[Disease],Miyoshi myopathy,,A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.,"[613318, 254130]",,,,,Miyoshi myopathy,TRUE,FALSE,Active +GARD:9677,Active,Orphanet,ORPHA:98962,Disorder,[Disease],Granular corneal dystrophy type I,"[Classic GCD, Classic granular corneal dystrophy, Corneal dystrophy Groenouw type I, GCD1, GCDI, Granular corneal dystrophy type 1]","Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.",[121900],,,,,Groenouw type I corneal dystrophy,TRUE,FALSE,Active +GARD:9678,Active,Orphanet,ORPHA:98964,Disorder,[Disease],Lattice corneal dystrophy type I,"[Biber-Haab-Dimmer dystrophy, Classic lattice corneal dystrophy, LCD1, LCDI, Lattice corneal dystrophy type 1]",Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.,"[122200, 608471]",,,,,Lattice corneal dystrophy type 1,TRUE,FALSE,Active +GARD:9679,Active,Orphanet,ORPHA:363417,Disorder,[Malformation syndrome],Temtamy preaxial brachydactyly syndrome,,"Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.",[605282],,,,,Temtamy preaxial brachydactyly syndrome,TRUE,FALSE,Active +GARD:968,Active,Orphanet,ORPHA:2946,Disorder,[Malformation syndrome],Brachydactyly-long thumb syndrome,"[Brachydactyly, long thumb type]","Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.",[112430],,,,,Brachydactyly long thumb type,TRUE,FALSE,Active +GARD:9681,Active,Orphanet,ORPHA:140976,Disorder,[Disease],RHYNS syndrome,[Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome],"A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.",[602152],,,,,RHYNS syndrome,TRUE,FALSE,Active +GARD:9682,Active,Orphanet,ORPHA:309803,Subtype of disorder,[Etiological subtype],Rhizomelic chondrodysplasia punctata type 3,,,[600121],,,,,Rhizomelic chondrodysplasia punctata type 3,TRUE,FALSE,Active +GARD:9683,Active,Orphanet,ORPHA:71,Disorder,[Disease],Chylomicron retention disease,"[Anderson disease, CMRD, CRD]","Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.",[246700],,,,,Chylomicron retention disease,TRUE,FALSE,Active +GARD:9684,Active,Orphanet,ORPHA:71272,Disorder,[Disease],Sandifer syndrome,,"Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.",,,,,,Sandifer syndrome,TRUE,FALSE,Active +GARD:9687,Active,Orphanet,ORPHA:1247,Disorder,[Disease],Schistosomiasis,[Bilharziasis],"Schistosomiasis is an infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.",[181460],,,,,Schistosomiasis,TRUE,FALSE,Active +GARD:9688,Active,Orphanet,ORPHA:98954,Disorder,[Disease],Meesmann corneal dystrophy,"[Juvenile hereditary epithelial dystrophy of Meesmann, MECD]","Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.","[122100, 618767]",,,,,Meesmann corneal dystrophy,TRUE,FALSE,Active +GARD:9689,Active,Orphanet+OMIM,OMIM:254210,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 6, presynaptic","[Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea, myasthenia gravis, familial infantile, 2, formerly, cms ia2, formerly, myasthenia, familial infantile, formerly, congenital myasthenic syndrome type ia2, formerly]","Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by {3:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[254210],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,Congenital myasthenic syndrome with episodic apnea,TRUE,FALSE,Active +GARD:969,Legacy,GARD,,,,,,,,,,,,Brachydactyly-mesomelia-mental retardation-heart defects syndrome,TRUE,FALSE,Retired +GARD:9690,Active,Orphanet,ORPHA:97332,Disorder,[Disease],Kienbock disease,"[Aseptic necrosis of the lunate bone, Lunatomalacia, Osteochondrosis of the lunate bone, Progressive avascular necrosis of the lunate bone]","Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.",,,,,,Kienbock's disease,TRUE,FALSE,Active +GARD:9691,Legacy,GARD,,,,,,,,,,,,Scaphotrapeziotrapezoid arthrodesis,FALSE,FALSE,Draft +GARD:9692,Active,Orphanet,ORPHA:295036,Disorder,[Morphological anomaly],Congenital patella dislocation,,"A rare congenital limb malformation characterized by permanent and manually irreducible lateral dislocation of the kneecap. It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative syndrome.",,,,,,Congenital dislocation of the patella,TRUE,FALSE,Active +GARD:9694,Active,Orphanet,ORPHA:79403,Disorder,[Disease],Junctional epidermolysis bullosa with pyloric atresia,"[Carmi syndrome, JEB with pyloric atresia, JEB-PA]",A severe form of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.,[226730],,,,,Junctional epidermolysis bullosa with pyloric atresia,TRUE,FALSE,Active +GARD:9695,Legacy,GARD,,,,,,,,,,,,Sakoda complex,TRUE,FALSE,Active +GARD:9696,Active,Orphanet,ORPHA:91481,Disorder,[Disease],Ring dermoid of cornea,[Ring dermoid syndrome],Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.,[180550],,,,,Ring dermoid of cornea,TRUE,FALSE,Active +GARD:9697,Active,Orphanet,ORPHA:65684,Disorder,[Disease],Monomelic amyotrophy,"[Benign focal amyotrophy, Hirayama disease, JMADUE, Juvenile muscular atrophy of distal upper extremity, Juvenile muscular atrophy of the distal upper limb]",Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.,[602440],,,,,Monomelic amyotrophy,TRUE,FALSE,Active +GARD:9698,Active,Orphanet,ORPHA:96167,Disorder,[Malformation syndrome],Recombinant 8 syndrome,"[Duplication 8q/deletion 8p, Rec(8) syndrome, Rec8 syndrome, Recombinant chromosome 8 syndrome, San Luis Valley syndrome]","Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.",[179613],,,,,Recombinant chromosome 8 syndrome,TRUE,FALSE,Active +GARD:9699,Legacy,GARD,,,,,,,,,,,,Ossification of the posterior longitudinal ligament of the spine,FALSE,FALSE,Active +GARD:9700,Legacy,GARD,,,,,,,,,,,,LCAD deficiency,TRUE,FALSE,Active +GARD:9701,Active,Orphanet+OMIM,OMIM:182990,Subtype of disorder,[Morphological anomaly subtype],Spinal intradural arachnoid cysts,,"{1:Aarabi et al. (1979)} reported father and daughter with surgically proven thoracic intradural arachnoid cysts. Two brothers of the father and another daughter were suspected by history to be affected also. One of these was deceased. The other two, with long-term, progressive, painless paraplegia, refused medical evaluation. The cysts were not associated with increased interpediculate distances or with distichiasis and lymphedema. The authors knew of no similar family.",[182990],[2356],[Arachnoid cyst],[17],,Spinal intradural arachnoid cysts,TRUE,FALSE,Active +GARD:9702,Legacy,GARD,,,,,,,,,,,,Hooft disease,TRUE,FALSE,Active +GARD:9703,Active,Orphanet+OMIM,OMIM:608681,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 2, autosomal recessive",,"Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 ({277300}).",[608681],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 2,TRUE,FALSE,Active +GARD:9704,Active,Orphanet,ORPHA:85287,Disorder,[Malformation syndrome],"X-linked intellectual disability, Siderius type",,"X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.",[300263],,,,,"X-linked intellectual disability, Siderius type",TRUE,FALSE,Active +GARD:9705,Active,Orphanet,ORPHA:158668,Disorder,[Disease],Ectodermal dysplasia-skin fragility syndrome,[McGrath syndrome],"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.",[604536],,,,,Ectodermal dysplasia skin fragility syndrome,TRUE,FALSE,Active +GARD:9706,Active,Orphanet,ORPHA:91496,Disorder,[Disease],Snowflake vitreoretinal degeneration,,"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.",[193230],,,,,Snowflake vitreoretinal degeneration,TRUE,FALSE,Active +GARD:9707,Active,Orphanet,ORPHA:211,Subtype of disorder,[Clinical subtype],Familial cylindromatosis,[Turban tumor syndrome],,[132700],,,,,Familial cylindromatosis,TRUE,FALSE,Retired +GARD:9709,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 1",TRUE,FALSE,Active +GARD:971,Active,Orphanet,ORPHA:1246,Disorder,[Malformation syndrome],Brachydactyly-nystagmus-cerebellar ataxia syndrome,[Biemond syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.",[113400],,,,,Biemond syndrome,TRUE,FALSE,Active +GARD:9710,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 2",TRUE,FALSE,Active +GARD:9711,Active,Orphanet,ORPHA:46059,Disorder,[Disease],Lathosterolosis,[Sterol C5-desaturase deficiency],"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.",[607330],,,,,Lathosterolosis,TRUE,FALSE,Active +GARD:9712,Legacy,GARD,,,,,,,,,,,,Mycobacterium Marinum,TRUE,FALSE,Active +GARD:9713,Legacy,GARD,,,,,,,,,,,,Levotransposition of the great arteries,TRUE,FALSE,Active +GARD:9714,Legacy,GARD,,,,,,,,,,,,Littoral cell angioma of the spleen,TRUE,FALSE,Active +GARD:9715,Active,Orphanet,ORPHA:79478,Subtype of disorder,[Clinical subtype],Griscelli syndrome type 3,[Griscelli-Pruniéras syndrome type 3],,[609227],,,,,Griscelli syndrome type 3,TRUE,FALSE,Active +GARD:9716,Legacy,GARD,,,,,,,,,,,,Aspergillus niger infection,TRUE,FALSE,Active +GARD:9717,Legacy,GARD,,,,,,,,,,,,Left-sided gallbladder,TRUE,FALSE,Active +GARD:9718,Legacy,GARD,,,,,,,,,,,,Fibrocartilaginous embolism,TRUE,FALSE,Active +GARD:9719,Legacy,GARD,,,,,,,,,,,,Orbital lymphoma,TRUE,FALSE,Active +GARD:972,Active,Orphanet,ORPHA:1278,Disorder,[Malformation syndrome],Brachydactyly-preaxial hallux varus syndrome,,"A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994.",[112450],,,,,Brachydactyly preaxial with hallux varus and thumb abduction,TRUE,FALSE,Active +GARD:9720,Legacy,GARD,,,,,,,,,,,,Orbital lymphangioma,TRUE,FALSE,Active +GARD:9721,Legacy,GARD,,,,,,,,,,,,Herpes zoster ophthalmicus,TRUE,FALSE,Active +GARD:9722,Legacy,GARD,,,,,,,,,,,,Congenital pseudoarthrosis,TRUE,FALSE,Active +GARD:9723,Active,Orphanet,ORPHA:1883,Disorder,[Malformation syndrome],Ectodermal dysplasia-sensorineural deafness syndrome,[Ectodermal dysplasia-sensorineural hearing loss syndrome],"Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.",[224800],,,,,Congenital ectodermal dysplasia with hearing loss,TRUE,FALSE,Active +GARD:9724,Legacy,GARD,,,,,,,,,,,,Nipah virus encephalitis,TRUE,FALSE,Active +GARD:9725,Active,Orphanet,ORPHA:137617,Disorder,[Disease],Nephrogenic systemic fibrosis,[Nephrogenic fibrosing dermopathy],"Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.",,,,,,Nephrogenic Systemic Fibrosis,TRUE,FALSE,Active +GARD:9726,Active,Orphanet+OMIM,OMIM:603622,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 17",,,[603622],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 17",TRUE,FALSE,Active +GARD:9728,Active,Orphanet,ORPHA:606,Disorder,[Disease],Proximal myotonic myopathy,"[Myotonic dystrophy type 2, Proximal myotonic dystrophy, Ricker disease, Ricker syndrome]","A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.",[602668],,,,,Myotonic dystrophy type 2,TRUE,FALSE,Active +GARD:9729,Active,Orphanet,ORPHA:101009,Disorder,[Disease],Autosomal dominant spastic paraplegia type 29,[SPG29],"A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.",[609727],,,,,Spastic paraplegia 29,TRUE,FALSE,Active +GARD:9730,Active,Orphanet,ORPHA:34587,Disorder,[Disease],Glycogen storage disease due to LAMP-2 deficiency,"[Danon disease, GSD due to LAMP-2 deficiency, Glycogenosis due to LAMP-2 deficiency, Lysosomal glycogen storage disease with normal acid maltase activity]","Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.",[300257],,,,,Danon disease,TRUE,FALSE,Active +GARD:9731,Legacy,GARD,,,,,,,,,,,,Bobble-head doll syndrome,TRUE,FALSE,Active +GARD:9732,Active,Orphanet,ORPHA:98956,Disorder,[Disease],Epithelial basement membrane dystrophy,"[Anterior basement membrane dystrophy, Cogan microcystic epithelial dystrophy, EBMD, Map-dot-fingerprint dystrophy]","A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner.",[121820],,,,,Epithelial basement membrane corneal dystrophy,TRUE,FALSE,Active +GARD:9733,Active,Orphanet+OMIM,OMIM:601277,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 4a","[ichthyosis, lamellar, 2, formerly, Ichthyosis congenita iib]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({8:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {7:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[601277],[313],[Lamellar ichthyosis],[10803],,Ichthyosis lamellar 2,TRUE,FALSE,Active +GARD:9734,Active,Orphanet+OMIM,OMIM:604777,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 5","[ichthyosis congenita iii, ichthyosis, lamellar, 3, formerly, Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {4:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({7:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {3:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {5:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[604777],[313],[Lamellar ichthyosis],[10803],,Ichthyosis lamellar 3,TRUE,FALSE,Active +GARD:9735,Legacy,GARD,,,,,,,,,,,,"Ichthyosis lamellar, autosomal dominant",TRUE,FALSE,Active +GARD:9736,Active,Orphanet,ORPHA:79394,Disorder,[Disease],Congenital non-bullous ichthyosiform erythroderma,"[CIE, Erythrodermic ichthyosis, Non-bullous congenital ichthyosiform erythroderma]","Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.","[615023, 606545, 615024, 612281, 242100, 615022]",,,,,Nonbullous congenital ichthyosiform erythroderma,TRUE,FALSE,Active +GARD:9737,Active,Orphanet,ORPHA:79397,Disorder,[Disease],Epidermolysis bullosa simplex with mottled pigmentation,"[EBS with mottled pigmentation, EBS-MP]","A rare, inherited, epidermolysis bullosa simplex characterized by neonatal or infantile onset of generalized blistering with mottled or reticulate brown pigmentation developing later. Blistering is often accompanied by mild nail dystrophy and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk.",[131960],,,,,Epidermolysis bullosa simplex with mottled pigmentation,TRUE,FALSE,Active +GARD:9738,Legacy,GARD,,,,,,,,,,,,Kyrle disease,TRUE,FALSE,Active +GARD:9739,Legacy,GARD,,,,,,,,,,,,Xanthogranulomatous sialadenitis,TRUE,FALSE,Active +GARD:974,Legacy,GARD,,,,,,,,,,,,Brachydactyly small stature face anomalies,TRUE,FALSE,Active +GARD:9740,Active,Orphanet,ORPHA:334,Disorder,[Disease],Familial atrial fibrillation,,"Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.","[608988, 612240, 611819, 611493, 611494, 613055, 614049, 615377, 608583, 613120, 614050, 615378, 615770, 617280, 614022, 607554, 612201, 613980]",,,,,Familial atrial fibrillation,TRUE,FALSE,Active +GARD:9741,Active,Orphanet,ORPHA:137754,Disorder,[Disease],Neurological conditions associated with aminoacylase 1 deficiency,"[ACY1D, N-acyl-L-amino acid amidohydrolase deficiency]",An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.,[609924],,,,,Aminoacylase 1 deficiency,TRUE,FALSE,Active +GARD:9742,Active,Orphanet,ORPHA:78,Disorder,[Disease],Ankylostomiasis,"[Ancylostomiasis, Hookworm infection]","A hookworm infection caused primarily by the species Ancylostoma duodenale or Necator americanus, usually acquired through penetration of the skin, (often asymptomatic but that can also manifest with an allergic reaction at the site of skin penetration), followed by the migration of larva through the bloodstream to the lungs (causing asymptomatic pneumonitis, eosinophilia) and finally reaching and colonizing the small intestines where they cause blood extravasation leading to diarrhea, abdominal pain, and when untreated, melena, iron-deficiency anemia and protein malnutrition.",,,,,,Ancylostomiasis,TRUE,FALSE,Active +GARD:9743,Legacy,GARD,,,,,,,,,,,,Duodenal ulcer due to antral G-cell hyperfunction,TRUE,FALSE,Active +GARD:9744,Active,Orphanet,ORPHA:79100,Disorder,[Disease],Atrophoderma vermiculata,[Folliculitis ulerythematosa reticulate],"A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic ''honeycomb'' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs.","[209700, 604093]",,,,,Atrophoderma vermiculata,TRUE,FALSE,Active +GARD:9745,Legacy,GARD,,,,,,,,,,,,Metagonimiasis,TRUE,FALSE,Active +GARD:9746,Legacy,GARD,,,,,,,,,,,,Opisthorchiasis,TRUE,FALSE,Active +GARD:9747,Legacy,GARD,,,,,,,,,,,,Cercarial Dermatitis,TRUE,FALSE,Active +GARD:9748,Active,Orphanet,ORPHA:90291,Disorder,[Disease],Systemic sclerosis,[Systemic scleroderma],"Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms).",[181750],,,,,Systemic scleroderma,TRUE,FALSE,Active +GARD:9749,Active,Orphanet,ORPHA:220407,Subtype of disorder,[Clinical subtype],Limited systemic sclerosis,[Systemic sclerosis sine scleroderma],Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin.,,,,,,Limited systemic sclerosis,TRUE,FALSE,Active +GARD:9750,Legacy,GARD,,,,,,,,,,,,Di Guglielmo's syndrome,TRUE,FALSE,Active +GARD:9751,Active,Orphanet,ORPHA:220393,Subtype of disorder,[Clinical subtype],Diffuse cutaneous systemic sclerosis,"[Diffuse cutaneous systemic scleroderma, Progressive cutaneous systemic scleroderma, Progressive cutaneous systemic sclerosis]","Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).",,,,,,Diffuse cutaneous systemic sclerosis,TRUE,FALSE,Active +GARD:9752,Legacy,GARD,,,,,,,,,,,,Cutaneous sclerosis,TRUE,FALSE,Active +GARD:9753,Legacy,GARD,,,,,,,,,,,,Juvenile Scleroderma,TRUE,FALSE,Retired +GARD:9754,Legacy,GARD,,,,,,,,,,,,Nguyen syndrome,TRUE,FALSE,Active +GARD:9755,Active,Orphanet,ORPHA:411629,Subtype of disorder,[Clinical subtype],Infantile nephropathic cystinosis,,"A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome.",[219800],,,,,Nephropathic cystinosis,TRUE,FALSE,Retired +GARD:9756,Active,Orphanet,ORPHA:411641,Subtype of disorder,[Clinical subtype],Ocular cystinosis,"[Adult-onset cystinosis, Non-nephropathic cystinosis]","Ocular cystinosis is the benign, adult form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.",[219750],,,,,"Cystinosis, ocular nonnephropathic",TRUE,FALSE,Retired +GARD:9757,Legacy,GARD,,,,,,,,,,,,Red skin pigment anomaly of New Guinea,TRUE,FALSE,Active +GARD:9758,Active,Orphanet,ORPHA:101049,Subtype of disorder,[Etiological subtype],Familial hypocalciuric hypercalcemia type 2,[FHH type 2],,[145981],,,,,Familial hypocalciuric hypercalcemia type 2,TRUE,FALSE,Active +GARD:9759,Active,Orphanet,ORPHA:2387,Disorder,[Disease],Leukonychia totalis,,"Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.",[151600],,,,,Leukonychia totalis,TRUE,FALSE,Active +GARD:9760,Legacy,GARD,,,,,,,,,,,,Hereditary koilonychia,TRUE,FALSE,Active +GARD:9761,Active,Orphanet,ORPHA:79144,Disorder,[Disease],Isolated congenital onychodysplasia,"[COIF, COIF syndrome, Congenital onychodysplasia of the index fingers, Iso-Kikuchi syndrome]","A rare isolated nail anomaly characterized by congenital unilateral or bilateral nail dysplasia (including micronychia, polyonychia, anonychia, hemionychrogryphosis, and malalignment) commonly involving the index fingers and/or other fingers or also toes, frequently associated with bony anomalies of the affected digits (such as Y-shaped bifurcation of the distal phalanx, brachymesophalangy, or syndactyly). The condition can be sporadic or familial.",[605779],,,,,"Nail dysplasia, isolated congenital",TRUE,FALSE,Active +GARD:9762,Active,Orphanet,ORPHA:52022,Disorder,[Malformation syndrome],Potocki-Shaffer syndrome,"[11p11.2 deletion, Proximal 11p deletion syndrome]","A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others.",[601224],,,,,Potocki-Shaffer syndrome,TRUE,FALSE,Active +GARD:9764,Legacy,GARD,,,,,,,,,,,,Pseudoainhum,TRUE,FALSE,Active +GARD:9765,Legacy,GARD,,,,,,,,,,,,Myokymia with neonatal epilepsy,TRUE,FALSE,Active +GARD:9766,Active,Orphanet,ORPHA:83467,Disorder,[Disease],Morvan syndrome,"[Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome, Morvan fibrillary chorea]","Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.",,,,,,Morvan's fibrillary chorea,TRUE,FALSE,Active +GARD:9767,Active,Orphanet,ORPHA:391673,Disorder,[Disease],Necrotizing enterocolitis,,"A rare intestinal disease characterized by potentially life-threatening inflammatory bowel necrosis predominantly affecting preterm neonates. Patients may present with feeding intolerance, lethargy, temperature instability, abdominal distention, blood-stained stools, diarrhea, bilious vomiting, apnea, and signs of sepsis. Radiographic features include pneumatosis intestinalis, portal venous gas, presence of fixed, dilated intestinal loops, bowel wall edema, and (in case of bowel perforation) pneumoperitoneum.",,,,,,Necrotizing enterocolitis,TRUE,FALSE,Active +GARD:9768,Legacy,GARD,,,,,,,,,,,,Pityriasis lichenoides et varioliformis acuta,TRUE,FALSE,Active +GARD:9769,Active,Orphanet,ORPHA:251656,Disorder,[Disease],Oligoastrocytoma,"[MOA, Mixed oligoastrocytoma]","Oligoastrocytoma is a type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and, in some, subarachnoid haemorrhage.",,,,,,Oligoastrocytoma,TRUE,FALSE,Active +GARD:977,Legacy,GARD,,,,,,,,,,,,Brachydactyly tibial hypoplasia,TRUE,FALSE,Active +GARD:9770,Legacy,GARD,,,,,,,,,,,,Fuchs atrophia gyrata chorioideae et retina,TRUE,FALSE,Retired +GARD:9771,Legacy,GARD,,,,,,,,,,,,Clostridium sordellii infection,TRUE,FALSE,Active +GARD:9772,Legacy,GARD,,,,,,,,,,,,Stenotrophomonas maltophilia infection,TRUE,FALSE,Active +GARD:9773,Legacy,GARD,,,,,,,,,,,,Mycobacterium fortuitum,TRUE,FALSE,Active +GARD:9774,Legacy,GARD,,,,,,,,,,,,Pasteurella multocida infection,TRUE,FALSE,Active +GARD:9775,Active,Orphanet,ORPHA:79145,Disorder,[Disease],Dowling-Degos disease,[Reticular pigment anomaly of flexures],"A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.","[179850, 615674, 615696, 615327]",,,,,Dowling-Degos disease,TRUE,FALSE,Active +GARD:9777,Legacy,GARD,,,,,,,,,,,,Pulmonary arteriovenous malformation,TRUE,FALSE,Active +GARD:9778,Active,Orphanet,ORPHA:71279,Disorder,[Disease],CANOMAD syndrome,"[CANDA syndrome, Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome, Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies]","A rare chronic immune-mediated polyneuropathy characterized by a progressive disabling neuropathy with marked gait disturbance primarily due to sensory ataxia with concurrent cranial neuropathies (internal or external ophthalmoplegia, dysphagia, dysarthria, or facial weakness) and anti-disialosyl IgM antibodies.",,,,,,CANOMAD syndrome,TRUE,FALSE,Active +GARD:9779,Legacy,GARD,,,,,,,,,,,,Aerobic actinomyces infection,TRUE,FALSE,Active +GARD:978,Active,Orphanet,ORPHA:93388,Disorder,[Malformation syndrome],Brachydactyly type A1,"[Brachydactyly, Farabee type]","A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.","[616849, 615072, 112500, 607004]",,,,,Brachydactyly type A1,TRUE,FALSE,Active +GARD:9780,Legacy,GARD,,,,,,,,,,,,Paine syndrome,TRUE,FALSE,Active +GARD:9781,Active,Orphanet,ORPHA:1762,Disorder,[Malformation syndrome],Proximal Xq28 duplication syndrome,"[MECP2 duplication syndrome, X-linked intellectual disability syndrome, Lubs type]","A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.","[300815, 300260]",,,,,MECP2 duplication syndrome,TRUE,FALSE,Active +GARD:9783,Legacy,GARD,,,,,,,,,,,,Human T-cell leukemia virus type 2,TRUE,FALSE,Active +GARD:9784,Legacy,GARD,,,,,,,,,,,,Human T-cell leukemia virus type 3,TRUE,FALSE,Active +GARD:9785,Legacy,GARD,,,,,,,,,,,,Streptococcal Group B invasive disease,TRUE,FALSE,Active +GARD:9786,Legacy,GARD,,,,,,,,,,,,Group B strep disease in newborns,TRUE,FALSE,Active +GARD:9787,Active,Orphanet,ORPHA:90307,Disorder,[Disease],Parkes Weber syndrome,,,[608354],,,,,Parkes Weber syndrome,TRUE,FALSE,Active +GARD:9788,Legacy,GARD,,,,,,,,,,,,"Basal cell carcinoma, infundibulocystic",TRUE,FALSE,Active +GARD:9789,Active,Orphanet,ORPHA:2415,Group of disorders,[Category],Rare lymphatic malformation,"[LM, Lymphangioma]",,,,,,,Lymphatic malformations,TRUE,FALSE,Active +GARD:979,Active,Orphanet,ORPHA:93396,Disorder,[Malformation syndrome],Brachydactyly type A2,"[Brachydactyly, Mohr-Wriedt type]","A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder.",[112600],,,,,Brachydactyly type A2,TRUE,FALSE,Active +GARD:9790,Legacy,GARD,,,,,,,,,,,,Anterior ischemic optic neuropathy,TRUE,FALSE,Active +GARD:9791,Active,Orphanet+OMIM,OMIM:600204,Subtype of disorder,[Disease subtype],"Epiphyseal dysplasia, multiple, 2",,"Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease. Onset of the disorder is usually in childhood (summary by {4:Jackson et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of EDM, see EDM1 ({132400}).",[600204],[166002],[Multiple epiphyseal dysplasia due to collagen 9 anomaly],[15024],,Multiple epiphyseal dysplasia 2,TRUE,FALSE,Active +GARD:9792,Active,Orphanet+OMIM,OMIM:600969,Subtype of disorder,[Disease subtype],"Epiphyseal dysplasia, multiple, 3",,"Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints ({2:Muragaki et al., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 ({132400}).",[600969],[166002],[Multiple epiphyseal dysplasia due to collagen 9 anomaly],[15024],,Multiple epiphyseal dysplasia 3,TRUE,FALSE,Active +GARD:9793,Active,Orphanet,ORPHA:93307,Disorder,[Disease],Multiple epiphyseal dysplasia type 4,"[Autosomal recessive multiple epiphyseal dysplasia, EDM4, MED4, Polyepiphyseal dysplasia type 4, rMED]","Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.",[226900],,,,,Multiple epiphyseal dysplasia 4,TRUE,FALSE,Active +GARD:9794,Active,Orphanet,ORPHA:93311,Disorder,[Disease],Multiple epiphyseal dysplasia type 5,"[BHMED, Bilateral hereditary micro-epiphyseal dysplasia, EDM5, MED5, Polyepiphyseal dysplasia type 5]","Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.",[607078],,,,,Multiple epiphyseal dysplasia 5,TRUE,FALSE,Active +GARD:9795,Active,Orphanet,ORPHA:34217,Disorder,[Disease],Naxos disease,"[KWWH type I, Keratoderma with woolly hair type I, Keratosis palmoplantaris with arrythmogenic cardiomyopathy, Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy, Palmoplantar keratoderma with arrythmogenic cardiomyopathy]","A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.",[601214],,,,,Naxos disease,TRUE,FALSE,Active +GARD:9796,Active,Orphanet,ORPHA:275517,Disorder,[Disease],Autoimmune lymphoproliferative syndrome with recurrent viral infections,"[ALPS with recurrent viral infections, CEDS, Caspase 8 deficiency syndrome]",A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.,[607271],,,,,Caspase-8 deficiency,TRUE,FALSE,Active +GARD:9797,Active,Orphanet,ORPHA:275523,Disorder,[Disease],Dianzani autoimmune lymphoproliferative disease,[DALD],"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.",[605233],,,,,Dianzani autoimmune lymphoproliferative syndrome,TRUE,FALSE,Active +GARD:9798,Active,Orphanet,ORPHA:137888,Disorder,[Malformation syndrome],Auriculocondylar syndrome,[Question mark ear syndrome],"A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental delay, hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported.","[602483, 612798, 615706, 614669]",,,,,Auriculo-condylar syndrome,TRUE,FALSE,Active +GARD:9799,Active,Orphanet,ORPHA:53296,Disorder,[Disease],Familial cutaneous collagenoma,,"Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.",[115250],,,,,Familial cutaneous collagenoma,TRUE,FALSE,Active +GARD:98,Legacy,GARD,,,,,,,,,,,,Myasthenia gravis congenital,TRUE,FALSE,Retired +GARD:9801,Legacy,GARD,,,,,,,,,,,,Non-dystrophic myotonic disorders,TRUE,FALSE,Retired +GARD:9802,Active,Orphanet,ORPHA:79306,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 1,"[Byler disease, FIC1 deficiency, PFIC1]","PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.",[211600],,,,,Progressive familial intrahepatic cholestasis 1,TRUE,FALSE,Active +GARD:9803,Active,Orphanet,ORPHA:480483,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 4,"[PFIC4, TJP2 deficit]",,[615878],,,,,Progressive familial intrahepatic cholestasis-4,TRUE,FALSE,Active +GARD:9804,Active,Orphanet,ORPHA:69665,Disorder,[Disease],Intrahepatic cholestasis of pregnancy,"[Gravidic intrahepatic cholestasis, Pregnancy-related cholestasis, Recurrent intrahepatic cholestasis of pregnancy]","Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.","[614972, 147480]",,,,,Intrahepatic cholestasis of pregnancy,TRUE,FALSE,Active +GARD:9805,Legacy,GARD,,,,,,,,,,,,Morgellons,TRUE,FALSE,Active +GARD:9806,Active,Orphanet,ORPHA:493342,Disorder,[Disease],Vibratory urticaria,,"Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or the sensation of a metallic taste. Concomitant local mast cell degranulation and increased histamine serum levels are additional typical findings.",[125630],,,,,Vibratory urticaria,TRUE,FALSE,Active +GARD:9807,Legacy,GARD,,,,,,,,,,,,Dermatofibroma,FALSE,FALSE,Active +GARD:9808,Active,Orphanet,ORPHA:251612,Disorder,[Disease],Pilocytic astrocytoma,,"Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.",,,,,,Pilocytic astrocytoma,TRUE,FALSE,Active +GARD:9809,Active,Orphanet,ORPHA:86880,Disorder,[Disease],Enteropathy-associated T-cell lymphoma,"[EATL, ETTL, Enteropathy-type T-cell lymphoma, Intestinal T-cell lymphoma]","A rare T-cell non-Hodgkin lymphoma characterized by a neoplasm of intraepithelial T-cells mostly occurring in the jejunum or ileum in patients with celiac disease. The lesion may be multifocal and form ulcerating nodules, plaques, strictures, or an exophytic mass. The mesentery and mesenteric lymph nodes are commonly involved. Patients typically present with abdominal pain, malabsorption or diarrhea, anorexia, weight loss, fatigue, nausea, vomiting, and sometimes intestinal perforation or hemorrhage. Prognosis is generally poor.",,,,,,Enteropathy-associated T-cell lymphoma,TRUE,FALSE,Active +GARD:9810,Active,Orphanet,ORPHA:156731,Disorder,[Disease],"Dyssegmental dysplasia, Rolland-Desbuquois type",,,[224400],,,,,Dyssegmental dysplasia Rolland-Desbuquois type,TRUE,FALSE,Active +GARD:9811,Active,Orphanet,ORPHA:3044,Disorder,[Malformation syndrome],Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,,"A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.",[249599],,,,,Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,TRUE,FALSE,Active +GARD:9812,Active,Orphanet,ORPHA:86872,Disorder,[Disease],T-cell large granular lymphocyte leukemia,"[Proliferation of large granular lymphocytes, T-LGL, T-cell LGL leukemia]",T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.,,,,,,T-cell large granular lymphocyte leukemia,TRUE,FALSE,Active +GARD:9813,Active,Orphanet,ORPHA:79301,Disorder,[Disease],Congenital bile acid synthesis defect type 1,"[3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency, BASD1]","Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.",[607765],,,,,"Congenital bile acid synthesis defect, type 1",TRUE,FALSE,Active +GARD:9814,Active,Orphanet+OMIM,OMIM:609428,Subtype of disorder,[Disease subtype],Tukel syndrome,,,[609428],[45358],[Congenital fibrosis of extraocular muscles],[12590],,Tukel syndrome,TRUE,FALSE,Active +GARD:9815,Legacy,GARD,,,,,,,,,,,,Paragonimiasis,TRUE,FALSE,Active +GARD:9817,Active,Orphanet,ORPHA:98808,Disorder,[Disease],Autosomal dominant dopa-responsive dystonia,"[Autosomal dominant Segawa syndrome, DYT5a, GTPCH1-deficient DRD, GTPCH1-deficient dopa-responsive dystonia, HPD with marked diurnal fluctuation, Hereditary progressive dystonia with marked diurnal fluctuation]",A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.,[128230],,,,,Dopa-responsive dystonia,TRUE,FALSE,Active +GARD:9818,Active,Orphanet,ORPHA:79107,Disorder,[Malformation syndrome],Developmental malformations-deafness-dystonia syndrome,[Developmental malformations-hearing loss-dystonia syndrome],"Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.",[607371],,,,,Juvenile-onset dystonia,TRUE,FALSE,Active +GARD:9819,Legacy,GARD,,,,,,,,,,,,"Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp",TRUE,FALSE,Retired +GARD:982,Legacy,GARD,,,,,,,,,,,,Brachydactyly type A5,TRUE,FALSE,Active +GARD:9820,Active,Orphanet,ORPHA:464343,Disorder,[Disease],Catastrophic antiphospholipid syndrome,"[CAPS, Catastrophic APS]","A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition occurs in a small subset of patients with antiphospholipid syndrome, often precipitated by infection, trauma, or surgery.",,,,,,Catastrophic antiphospholipid syndrome,TRUE,FALSE,Active +GARD:9821,Active,Orphanet,ORPHA:63454,Group of disorders,[Category],Pattern dystrophy,[Patterned dystrophy of the retinal pigment epithelium],,,,,,,Pattern dystrophy,TRUE,FALSE,Active +GARD:9822,Legacy,GARD,,,,,,,,,,,,Anal sphincter dysplasia,TRUE,FALSE,Active +GARD:9823,Legacy,GARD,,,,,,,,,,,,Acardia,TRUE,FALSE,Active +GARD:9824,Legacy,GARD,,,,,,,,,,,,Multifocal choroiditis,TRUE,FALSE,Active +GARD:9826,Active,Orphanet,ORPHA:79318,Disorder,[Disease],PMM2-CDG,"[CDG syndrome type Ia, CDG-Ia, CDG1A, Carbohydrate deficient glycoprotein syndrome type Ia, Congenital disorder of glycosylation type 1a, Congenital disorder of glycosylation type Ia, Phosphomannomutase 2 deficiency]","PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.",[212065],,,,,PMM2-CDG (CDG-Ia),TRUE,FALSE,Active +GARD:9827,Active,Orphanet,ORPHA:79321,Disorder,[Disease],ALG3-CDG,"[CDG syndrome type Id, CDG-Id, CDG1D, Carbohydrate deficient glycoprotein syndrome type Id, Congenital disorder of glycosylation type 1d, Congenital disorder of glycosylation type Id, Mannosyltransferase 6 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).",[601110],,,,,ALG3-CDG (CDG-Id),TRUE,FALSE,Active +GARD:9828,Active,Orphanet,ORPHA:79329,Disorder,[Disease],MGAT2-CDG,"[CDG syndrome type IIa, CDG-IIa, CDG2A, Carbohydrate deficient glycoprotein syndrome type IIa, Congenital disorder of glycosylation type 2a, Congenital disorder of glycosylation type IIa, N-acetylglucosaminyltransferase 2 deficiency]","MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).",[212066],,,,,MGAT2-CDG (CDG-IIa),TRUE,FALSE,Active +GARD:9829,Active,Orphanet,ORPHA:79320,Disorder,[Disease],ALG6-CDG,"[CDG syndrome type Ic, CDG-Ic, CDG1C, Carbohydrate deficient glycoprotein syndrome type Ic, Congenital disorder of glycosylation type 1c, Congenital disorder of glycosylation type Ic, Glucosyltransferase 1 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).",[603147],,,,,ALG6-CDG (CDG-Ic),TRUE,FALSE,Active +GARD:983,Active,Orphanet,ORPHA:93382,Disorder,[Malformation syndrome],Brachydactyly type A6,[Osebold-Remondini syndrome],"Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.",[112910],,,,,Brachydactyly type A6,TRUE,FALSE,Active +GARD:9830,Active,Orphanet,ORPHA:79319,Disorder,[Disease],MPI-CDG,"[CDG syndrome type Ib, CDG-Ib, CDG1B, Carbohydrate deficient glycoprotein syndrome type Ib, Congenital disorder of glycosylation type 1b, Congenital disorder of glycosylation type Ib, Phosphomannose isomerase deficiency]","MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).",[602579],,,,,MPI-CDG (CDG-Ib),TRUE,FALSE,Active +GARD:9831,Active,Orphanet,ORPHA:79322,Disorder,[Disease],DPM1-CDG,"[CDG syndrome type Ie, CDG-Ie, CDG1E, Carbohydrate deficient glycoprotein syndrome type Ie, Congenital disorder of glycosylation type 1e, Congenital disorder of glycosylation type Ie, Dol-P-mannosyltransferase deficiency]","The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.",[608799],,,,,DPM1-CDG (CDG-Ie),TRUE,FALSE,Active +GARD:9832,Active,Orphanet,ORPHA:79323,Disorder,[Disease],MPDU1-CDG,"[CDG syndrome type If, CDG-If, CDG1F, Carbohydrate deficient glycoprotein syndrome type If, Congenital disorder of glycosylation type 1f, Congenital disorder of glycosylation type If]","The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.",[609180],,,,,MPDU1-CDG (CDG-If),TRUE,FALSE,Active +GARD:9833,Active,Orphanet,ORPHA:79324,Disorder,[Disease],ALG12-CDG,"[CDG syndrome type Ig, CDG-Ig, CDG1G, Carbohydrate deficient glycoprotein syndrome type Ig, Congenital disorder of glycosylation type 1g, Congenital disorder of glycosylation type Ig, Mannosyltransferase 8 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).",[607143],,,,,ALG12-CDG (CDG-Ig),TRUE,FALSE,Active +GARD:9834,Active,Orphanet,ORPHA:79325,Disorder,[Disease],ALG8-CDG,"[CDG syndrome type Ih, CDG-Ih, CDG1H, Carbohydrate deficient glycoprotein syndrome type Ih, Congenital disorder of glycosylation type 1h, Congenital disorder of glycosylation type Ih, Glucosyltransferase 2 deficiency]","A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.",[608104],,,,,ALG8-CDG (CDG-Ih),TRUE,FALSE,Active +GARD:9835,Active,Orphanet,ORPHA:96170,Disorder,[Malformation syndrome],Emanuel syndrome,"[Der(22)t(11;22) syndrome, Supernumerary der(22) syndrome]","A constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.",[609029],,,,,Emanuel syndrome,TRUE,FALSE,Active +GARD:9836,Active,Orphanet,ORPHA:79326,Disorder,[Disease],ALG2-CDG,"[CDG syndrome type Ii, CDG-Ii, CDG1I, Carbohydrate deficient glycoprotein syndrome type Ii, Congenital disorder of glycosylation type 1i, Congenital disorder of glycosylation type Ii, Mannosyltransferase 2 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.",[607906],,,,,ALG2-CDG (CDG-Ii),TRUE,FALSE,Active +GARD:9837,Active,Orphanet,ORPHA:86309,Disorder,[Disease],DPAGT1-CDG,"[CDG syndrome type Ij, CDG-Ij, CDG1J, Carbohydrate deficient glycoprotein syndrome type Ij, Congenital disorder of glycosylation type 1j, Congenital disorder of glycosylation type Ij, Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency]","DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).",[608093],,,,,DPAGT1-CDG (CDG-Ij),TRUE,FALSE,Active +GARD:9838,Active,Orphanet,ORPHA:79327,Disorder,[Disease],ALG1-CDG,"[CDG syndrome type Ik, CDG-Ik, CDG1K, Carbohydrate deficient glycoprotein syndrome type Ik, Congenital disorder of glycosylation type 1k, Congenital disorder of glycosylation type Ik, Mannosyltransferase 1 deficiency]","A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).",[608540],,,,,ALG1-CDG (CDG-Ik),TRUE,FALSE,Active +GARD:9839,Active,Orphanet,ORPHA:79328,Disorder,[Disease],ALG9-CDG,"[CDG syndrome type IL, CDG-IL, CDG1L, Carbohydrate deficient glycoprotein syndrome type IL, Congenital disorder of glycosylation type 1L, Mannosyltransferase 7-9 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).","[263210, 608776]",,,,,ALG9-CDG (CDG-IL),TRUE,FALSE,Active +GARD:984,Active,Orphanet,ORPHA:93397,Disorder,[Malformation syndrome],Brachydactyly type A7,"[Brachydactyly, Smorgasbord type]","A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989.",,,,,,Brachydactyly type A7,TRUE,FALSE,Active +GARD:9840,Legacy,GARD,,,,,,,,,,,,Congenital disorder of glycosylation type I/IIX,TRUE,FALSE,Active +GARD:9841,Active,Orphanet,ORPHA:79332,Disorder,[Disease],B4GALT1-CDG,"[Beta-1,4-galactosyltransferase deficiency, CDG syndrome type IId, CDG-IId, CDG2D, Carbohydrate deficient glycoprotein syndrome type IId, Congenital disorder of glycosylation type 2d, Congenital disorder of glycosylation type IId]","B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.",[607091],,,,,B4GALT1-CDG (CDG-IId),TRUE,FALSE,Active +GARD:9842,Active,Orphanet,ORPHA:79333,Disorder,[Disease],COG7-CDG,"[CDG syndrome type IIe, CDG-IIe, CDG2E, Carbohydrate deficient glycoprotein syndrome type IIe, Congenital disorder of glycosylation type 2e, Congenital disorder of glycosylation type IIe]","COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.",[608779],,,,,COG7-CDG (CDG-IIe),TRUE,FALSE,Active +GARD:9843,Active,Orphanet,ORPHA:90042,Disorder,[Disease],Primary familial polycythemia,"[Congenital erythrocytosis due to erythropoietin receptor mutation, Congenital polycythemia due to erythropoietin receptor mutation, Familial erythrocytosis, PFCP, Primary congenital erythrocytosis, Primary familial and congenital polycythemia]",Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.,[133100],,,,,Primary familial and congenital polycythemia,TRUE,FALSE,Active +GARD:9844,Active,Orphanet,ORPHA:2637,Disorder,[Malformation syndrome],Microcephalic osteodysplastic primordial dwarfism type II,"[MOPD type II, Majewski osteodysplastic primordial dwarfism type II]","A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.",[210720],,,,,Microcephalic osteodysplastic primordial dwarfism type 2,TRUE,FALSE,Active +GARD:9846,Active,Orphanet,ORPHA:168796,Disorder,[Malformation syndrome],"Heart-hand syndrome, Slovenian type","[Atriodigital dysplasia, Slovenian type, Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome]","Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.",[610140],,,,,"Heart-hand syndrome, Slovenian type",TRUE,FALSE,Active +GARD:9847,Active,Orphanet,ORPHA:1350,Disorder,[Malformation syndrome],Heart-hand syndrome type 2,"[Atriodigital dysplasia type 2, Tabatznik syndrome]","Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).",,,,,,Tabatznik syndrome,TRUE,FALSE,Active +GARD:9848,Active,Orphanet,ORPHA:71278,Disorder,[Disease],Congenital brain dysgenesis due to glutamine synthetase deficiency,"[Inherited GS deficiency, Inherited glutamine synthetase deficiency]","A rare neurometabolic disease characterized by neonatal onset of severe epileptic encephalopathy with brain malformations (including cerebral and cerebellar atrophy, white matter abnormalities, delayed gyration or complete agyria, and thin corpus callosum), generalized hypotonia, and lack of normal development. Additional features include facial dysmorphism and necrolytic erythema of the skin. Biochemical hallmarks are decreased levels of glutamine in body fluids and chronic hyperammonemia. Death may occur in the early post-natal period due to multiple organ failure.",[610015],,,,,"Glutamine deficiency, congenital",TRUE,FALSE,Active +GARD:9849,Active,Orphanet,ORPHA:66629,Disorder,[Malformation syndrome],Goldberg-Shprintzen megacolon syndrome,"[GOSHS, Megacolon-microcephaly syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).",[609460],,,,,Goldberg-Shprintzen megacolon syndrome,TRUE,FALSE,Active +GARD:985,Active,Orphanet,ORPHA:93383,Disorder,[Malformation syndrome],Brachydactyly type B,,"A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. Digits on the radial side of the hand are less severely affected than those on the ulnar side. The feet are similarly affected but less severely. Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present.","[113000, 611377]",,,,,Brachydactyly type B,TRUE,FALSE,Active +GARD:9850,Active,Orphanet,ORPHA:3164,Disorder,[Malformation syndrome],"Omphalocele syndrome, Shprintzen-Goldberg type",,"Shprintzen–Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.",[182210],,,,,Shprintzen omphalocele syndrome,TRUE,FALSE,Active +GARD:9851,Legacy,GARD,,,,,,,,,,,,Episodic ataxia,TRUE,FALSE,Active +GARD:9852,Legacy,GARD,,,,,,,,,,,,Nondystrophic myotonia,TRUE,FALSE,Active +GARD:9853,Legacy,GARD,,,,,,,,,,,,Inherited bone marrow failure syndromes,FALSE,FALSE,Active +GARD:9856,Legacy,GARD,,,,,,,,,,,,Pediatric Crohn's disease,TRUE,FALSE,Active +GARD:9857,Legacy,GARD,,,,,,,,,,,,Pediatric ulcerative colitis,TRUE,FALSE,Active +GARD:9858,Legacy,GARD,,,,,,,,,,,,Catamenial pneumothorax,TRUE,FALSE,Active +GARD:986,Active,Orphanet,ORPHA:93384,Disorder,[Malformation syndrome],Brachydactyly type C,,"A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.",[113100],,,,,Brachydactyly type C,TRUE,FALSE,Active +GARD:9860,Legacy,GARD,,,,,,,,,,,,"Amelogenesis imperfecta hypoplastic type, IG",TRUE,FALSE,Active +GARD:9861,Legacy,GARD,,,,,,,,,,,,Trichoscyphodysplasia,TRUE,FALSE,Active +GARD:9862,Legacy,GARD,,,,,,,,,,,,Cyclic thrombocytopenia,TRUE,FALSE,Active +GARD:9863,Active,Orphanet+OMIM,OMIM:186400,Subtype of disorder,[Malformation syndrome subtype],"Synostoses, tarsal, carpal, and digital",[Calcaneonavicular coalition],,[186400],[1412],[Tarsal-carpal coalition syndrome],[9225],,"Synostoses, tarsal, carpal, and digital",TRUE,FALSE,Active +GARD:9866,Active,Orphanet,ORPHA:93360,Disorder,[Disease],Spondyloepimetaphyseal dysplasia with multiple dislocations,"[SEMD-MD, SEMDJL2, Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type, Spondyloepimetaphyseal dysplasia with joint laxity type 2, Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type, Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type]","Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.",[603546],,,,,Spondyloepimetaphyseal dysplasia with multiple dislocations,TRUE,FALSE,Active +GARD:9867,Active,Orphanet,ORPHA:98763,Disorder,[Disease],Spinocerebellar ataxia type 14,[SCA14],"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.",[605361],,,,,Spinocerebellar ataxia 14,TRUE,FALSE,Active +GARD:987,Active,Orphanet,ORPHA:93387,Disorder,[Malformation syndrome],Brachydactyly type E,,"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.","[113300, 613382]",,,,,Brachydactyly type E,TRUE,FALSE,Active +GARD:9870,Active,Orphanet,ORPHA:71212,Disorder,[Disease],Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,"[Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency, Hyperinsulinism due to SCHAD deficiency, Hyperinsulinism due to glutamodehydrogenase deficiency, SCHAD deficiency]","A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure.","[609975, 231530]",,,,,3-alpha hydroxyacyl-CoA dehydrogenase deficiency,TRUE,FALSE,Active +GARD:9872,Legacy,GARD,,,,,,,,,,,,Sideroblastic anemia pyridoxine-responsive autosomal recessive,TRUE,FALSE,Active +GARD:9873,Active,Orphanet,ORPHA:2789,Disorder,[Malformation syndrome],Lateral meningocele syndrome,[Lehman syndrome],"A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal.",[130720],,,,,Lateral meningocele syndrome,TRUE,FALSE,Active +GARD:9874,Active,Orphanet+OMIM,OMIM:608030,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia,,,[608030],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,Amyotrophic lateral sclerosis type 6,TRUE,FALSE,Active +GARD:9876,Active,Orphanet+OMIM,OMIM:132900,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 4","[aortic aneurysm/aortic dissection and patent ductus arteriosus, Faa4]",,[132900],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,"Aortic aneurysm, familial thoracic 4",TRUE,FALSE,Active +GARD:9878,Legacy,GARD,,,,,,,,,,,,Colloid cysts of third ventricle,TRUE,FALSE,Active +GARD:9879,Active,Orphanet,ORPHA:2639,Disorder,[Malformation syndrome],Fibular aplasia-complex brachydactyly syndrome,[Du Pan syndrome],A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5).,[228900],,,,,Fibular hypoplasia and complex brachydactyly,TRUE,FALSE,Active +GARD:988,Legacy,GARD,,,,,,,,,,,,Brachymesomelia renal syndrome,TRUE,FALSE,Active +GARD:9882,Active,Orphanet,ORPHA:168588,Disorder,[Malformation syndrome],Hyperandrogenism due to cortisone reductase deficiency,[11-beta-hydroxysteroid dehydrogenase deficiency type 1],"A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.","[614662, 604931]",,,,,Cortisone reductase deficiency,TRUE,FALSE,Active +GARD:9884,Active,Orphanet,ORPHA:86834,Disorder,[Disease],Juvenile myelomonocytic leukemia,"[JMML, Juvenile chronic myelomonocytic leukemia]","A rare myelodysplastic/myeloproliferative neoplasm characterized by a proliferation primarily of granulocytic and monocytic lineages with infiltration of the liver and spleen, among other organs. Blasts and promonocytes account for less than 20% of white blood cells in peripheral blood and bone marrow. Erythroid and megakaryocytic abnormalities are often present. BCR-ABL1 fusion is absent, while somatic mutations in genes of the RAS pathway or monosomy 7 may be found. The condition may also occur in the context of neurofibromatosis type 1 or Noonan syndrome-like disorder. Children of less than three years are predominantly affected, with a clear male preponderance. Most patients present with constitutional symptoms, signs of infection, and hepatosplenomegaly.",[607785],,,,,Juvenile myelomonocytic leukemia,TRUE,FALSE,Active +GARD:9885,Active,Orphanet+OMIM,OMIM:609942,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 3,,"Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature (summary by {4:Shah et al., 1999}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[609942],[648],[Noonan syndrome],[10955],,Noonan syndrome 3,TRUE,FALSE,Active +GARD:9886,Active,Orphanet,ORPHA:88621,Disorder,[Disease],Ichthyosis-prematurity syndrome,"[Congenital ichthyosis type 4, IPS]","A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.",[608649],,,,,Ichthyosis prematurity syndrome,TRUE,FALSE,Active +GARD:9887,Active,Orphanet,ORPHA:251287,Disorder,[Disease],Benign concentric annular macular dystrophy,,Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration.,[153870],,,,,"Macular dystrophy, concentric annular",TRUE,FALSE,Active +GARD:9888,Active,Orphanet,ORPHA:79246,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase phosphatase deficiency,[PDH phosphatase deficiency],"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.",[608782],,,,,Pyruvate dehydrogenase phosphatase deficiency,TRUE,FALSE,Active +GARD:989,Legacy,GARD,,,,,,,,,,,,Brachymesophalangy type 2,TRUE,FALSE,Active +GARD:9890,Active,Orphanet,ORPHA:98673,Disorder,[Disease],"Autosomal dominant optic atrophy, classic form","[Autosomal dominant optic atrophy, Kjer type, Kjer optic atrophy, Optic atrophy type 1]","A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects.","[610708, 618977, 605293, 165500]",,,,,Optic atrophy 1,TRUE,FALSE,Active +GARD:9891,Legacy,GARD,,,,,,,,,,,,Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis,TRUE,FALSE,Active +GARD:9892,Active,Orphanet+OMIM,OMIM:610019,Subtype of disorder,[Clinical subtype],Cataract 18,"[Cataract, autosomal recessive congenital 2]","Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital nuclear.\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Autosomal Recessive Congenital 2; CATC2.'",[610019],[98991],[Early-onset nuclear cataract],[16887],,"Cataract, autosomal recessive congenital 2",TRUE,FALSE,Active +GARD:9893,Legacy,GARD,,,,,,,,,,,,"Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia",TRUE,FALSE,Active +GARD:9895,Active,Orphanet+OMIM,OMIM:616313,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 2a, slow-channel",,"Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by {2:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616313],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,Slow-channel congenital myasthenic syndrome,TRUE,FALSE,Active +GARD:9896,Legacy,GARD,,,,,,,,,,,,"Myopathy, limb-girdle, with bone fragility",TRUE,FALSE,Active +GARD:9897,Legacy,GARD,,,,,,,,,,,,Optic atrophy 1 and deafness,TRUE,FALSE,Retired +GARD:9898,Active,Orphanet,ORPHA:88628,Disorder,[Disease],Posterior column ataxia-retinitis pigmentosa syndrome,"[Autosomal recessive posterior column ataxia and retinitis pigmentosa, PCARP]",Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.,[609033],,,,,Posterior column ataxia with retinitis pigmentosa,TRUE,FALSE,Active +GARD:9899,Legacy,GARD,,,,,,,,,,,,"Hodgkin disease, X-linked pseudoautosomal",TRUE,FALSE,Active +GARD:990,Active,Orphanet,ORPHA:93394,Disorder,[Malformation syndrome],Brachydactyly type A4,"[Brachydactyly, Temtamy type, Brachymesophalangy II and V]","A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.",[112800],,,,,Brachydactyly type A4,TRUE,FALSE,Active +GARD:9900,Active,Orphanet,ORPHA:2414,Disorder,[Disease],Congenital pulmonary lymphangiectasia,[Pulmonary lymphangiomatosis],"A rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.",[265300],,,,,Congenital pulmonary lymphangiectasia,TRUE,FALSE,Active +GARD:9901,Active,Orphanet+OMIM,OMIM:600376,Subtype of disorder,[Disease subtype],"Telangiectasia, hereditary hemorrhagic, type 2",,,[600376],[774],[Hereditary hemorrhagic telangiectasia],[6626],,Hereditary hemorrhagic telangiectasia type 2,TRUE,FALSE,Active +GARD:9902,Active,Orphanet+OMIM,OMIM:601101,Subtype of disorder,[Disease subtype],"Telangiectasia, hereditary hemorrhagic, type 3",,"For a general phenotypic description and a discussion of genetic heterogeneity of HHT, see {187300}.",[601101],[774],[Hereditary hemorrhagic telangiectasia],[6626],,Hereditary hemorrhagic telangiectasia type 3,TRUE,FALSE,Active +GARD:9903,Active,Orphanet,ORPHA:93338,Disorder,[Morphological anomaly],Polysyndactyly,"[PPD4, Preaxial polydactyly type 4]","Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.",[174700],,,,,Preaxial polydactyly type 4,TRUE,FALSE,Active +GARD:9904,Active,Orphanet,ORPHA:75325,Disorder,[Disease],Osteosclerosis-ichthyosis-premature ovarian failure syndrome,[Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome],"A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.",[609993],,,,,Osteosclerosis with ichthyosis and premature ovarian failure,TRUE,FALSE,Active +GARD:9905,Active,Orphanet,ORPHA:144,Disorder,[Disease],Lynch syndrome,,"A rare inherited cancer-predisposing syndrome characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, kidney, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors, depending on the gene involved. Tumors may occur at any age but often arise in young people. Factors influencing individual tumor risk include sex, age, affected gene, and personal history of cancer.","[614337, 120435, 609310, 614331, 614385, 614350, 613244]",,,,,Lynch syndrome,FALSE,FALSE,Active +GARD:9907,Draft,GARD,,Subtype of disorder,[Disease],Amyopathic dermatomyositis,"[ADM, Dermatomyositis sine myositis]","Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair. While patients with Amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included. Fatigue is reported in at least 50% of patients. Some cases have been associated with internal malignancy and/or interstitial lung disease.",,[221],[Dermatomyositis],[6263],,Amyopathic dermatomyositis,TRUE,FALSE,Active +GARD:9908,Legacy,GARD,,,,,,,,,,,,Cryofibrinogenemia,TRUE,FALSE,Active +GARD:9909,Active,Orphanet+OMIM,OMIM:601680,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, distal, type 2b1","[freeman-sheldon syndrome variant, Arthrogryposis multiplex congenita, distal, type 2b, arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities, sheldon-hall syndrome]","Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features ({1:Bamshad et al., 1996}). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by {2:Bamshad et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 ({108120}).",[601680],[1147],[Sheldon-Hall syndrome],[16556],,Sheldon-Hall syndrome,TRUE,FALSE,Active +GARD:9910,Active,Orphanet,ORPHA:158687,Disorder,[Disease],Lethal acantholytic erosive disorder,,"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.",[609638],,,,,"Epidermolysis bullosa, lethal acantholytic",TRUE,FALSE,Active +GARD:9911,Active,Orphanet+OMIM,OMIM:609955,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 3",,"For phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF ({135300}).",[609955],[2024],[Hereditary gingival fibromatosis],[16582],,"Gingival fibromatosis, 3",TRUE,FALSE,Active +GARD:9912,Active,Orphanet,ORPHA:2382,Disorder,[Disease],Lennox-Gastaut syndrome,,"A rare, severe early-onset developmental epileptic encephalopathy characterized by the triad of intellectual impairment, multiple seizure types, and typical electroencephalography (EEG) abnormalities.","[618141, 617113, 616346, 615369]",,,,,Lennox-Gastaut syndrome,TRUE,FALSE,Active +GARD:9913,Legacy,GARD,,,,,,,,,,,,"Properdin deficiency, X-linked",TRUE,FALSE,Active +GARD:9914,Active,Orphanet+OMIM,OMIM:601894,Subtype of disorder,[Disease subtype],Glomerulopathy with fibronectin deposits 2,"[fibronectin glomerulopathy, Glomerular nephritis, familial, with fibronectin deposits]","Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin ({2:Castelletti et al., 2008}).\n\nFor a discussion of genetic heterogeneity of GFND, see {137950}.",[601894],[84090],[Fibronectin glomerulopathy],[15019],,Glomerulopathy with fibronectin deposits 2,TRUE,FALSE,Active +GARD:9915,Legacy,GARD,,,,,,,,,,,,Leucine-sensitive hypoglycemia of infancy,TRUE,FALSE,Active +GARD:9916,Active,Orphanet+OMIM,OMIM:610017,Subtype of disorder,[Malformation syndrome subtype],Multiple synostoses syndrome 2,,"Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by {2:Dawson et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 ({186500}).",[610017],[3237],[Multiple synostoses syndrome],[3836],,Multiple synostoses syndrome 2,TRUE,FALSE,Active +GARD:9917,Legacy,GARD,,,,,,,,,,,,Immunodeficiency without anhidrotic ectodermal dysplasia,TRUE,FALSE,Active +GARD:9918,Active,Orphanet+OMIM,OMIM:609941,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 51",,,[609941],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,"Deafness, autosomal recessive 51",TRUE,FALSE,Active +GARD:9919,Active,Orphanet+OMIM,OMIM:609952,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 55",,,[609952],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,"Deafness, autosomal recessive 55",TRUE,FALSE,Active +GARD:992,Active,Orphanet,ORPHA:2713,Disorder,[Malformation syndrome],Oculoosteocutaneous syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968.",[211370],,,,,Brachymetapody anodontia hypotrichosis albinoidism,TRUE,FALSE,Active +GARD:9920,Active,Orphanet,ORPHA:298,Disorder,[Disease],Mitochondrial neurogastrointestinal encephalomyopathy,[MNGIE],"Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.","[613662, 612075, 603041]",,,,,Mitochondrial neurogastrointestinal encephalopathy syndrome,TRUE,FALSE,Active +GARD:9921,Active,Orphanet,ORPHA:2770,Disorder,[Malformation syndrome],Nasu-Hakola disease,"[NHD, PLO-SL, PLOSL, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy]","Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.","[618193, 221770]",,,,,Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy,TRUE,FALSE,Active +GARD:9922,Active,Orphanet+OMIM,OMIM:603553,Subtype of disorder,[Disease subtype],"Hemophagocytic lymphohistiocytosis, familial, 2","[hlh2, Hplh2]","Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; {147570}) and TNF-alpha ({191160}), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by {4:Dufourcq-Lagelouse et al., 1999}, {9:Stepp et al., 1999}, and {8:Molleran Lee et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.",[603553],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,"Hemophagocytic lymphohistiocytosis, familial, 2",TRUE,FALSE,Retired +GARD:9923,Legacy,GARD,,,,,,,,,,,,FG syndrome 2,TRUE,FALSE,Active +GARD:9924,Legacy,GARD,,,,,,,,,,,,FG syndrome 3,TRUE,FALSE,Active +GARD:9925,Legacy,GARD,,,,,,,,,,,,X-linked intellectual disability with or without nystagmus,TRUE,FALSE,Active +GARD:9927,Legacy,GARD,,,,,,,,,,,,Hyperinsulinemic hypoglycemia familial 2,TRUE,FALSE,Active +GARD:9928,Active,Orphanet+OMIM,OMIM:608898,Subtype of disorder,[Disease subtype],"Hemophagocytic lymphohistiocytosis, familial, 3","[hlh3, Hplh3]","Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin ({170280})-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see {267700}.",[608898],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,"Hemophagocytic lymphohistiocytosis, familial, 3",TRUE,FALSE,Retired +GARD:9929,Active,Orphanet+OMIM,OMIM:603552,Subtype of disorder,[Disease subtype],"Hemophagocytic lymphohistiocytosis, familial, 4","[Hplh4, hlh4]","Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R; {147730}). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by {2:Muller et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.",[603552],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,"Hemophagocytic lymphohistiocytosis, familial, 4",TRUE,FALSE,Retired +GARD:9930,Legacy,GARD,,,,,,,,,,,,Hyperinsulinemic hypoglycemia familial 3,TRUE,FALSE,Active +GARD:9931,Active,Orphanet,ORPHA:35878,Disorder,[Disease],Hyperinsulinism-hyperammonemia syndrome,[HI/HA syndrome],"Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.",[606762],,,,,Hyperinsulinism-hyperammonemia syndrome,TRUE,FALSE,Active +GARD:9932,Active,Orphanet,ORPHA:165991,Disorder,[Disease],Exercise-induced hyperinsulinism,"[EIHI, Exercise-induced hyperinsulinemic hypoglycemia, Hyperinsulinism due to SLC16A1 deficiency, Hyperinsulinism due to monocarboxylate transporter 1 deficiency]","A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide.",[610021],,,,,Exercise-induced hyperinsulinemic hypoglycemia,TRUE,FALSE,Active +GARD:9933,Active,Orphanet+OMIM,OMIM:601544,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 3a",,,[601544],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 3",TRUE,FALSE,Active +GARD:9934,Active,Orphanet+OMIM,OMIM:609965,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 53",,,[609965],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 53",TRUE,FALSE,Active +GARD:9935,Active,Orphanet+OMIM,OMIM:609946,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 47",,,[609946],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,"Deafness, neurosensory, autosomal recessive 47",TRUE,FALSE,Active +GARD:9936,Active,Orphanet,ORPHA:98813,Disorder,[Disease],Hypohidrotic ectodermal dysplasia with immunodeficiency,"[Anhidrotic ectodermal dysplasia with immunodeficiency, EDA-ID, HED-ID]","A rare ectodermal dysplasia syndrome characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.","[300291, 612132]",,,,,Hypohidrotic ectodermal dysplasia with immune deficiency,TRUE,FALSE,Active +GARD:9937,Active,Orphanet+OMIM,OMIM:608908,Subtype of disorder,[Disease subtype],Myopia 6,,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}.",[608908],[98619],[Rare isolated myopia],[16859],,Myopia 6,TRUE,FALSE,Active +GARD:9939,Legacy,GARD,,,,,,,,,,,,"Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features",TRUE,FALSE,Active +GARD:994,Active,Orphanet,ORPHA:263482,Disorder,[Disease],"Spondyloepiphyseal dysplasia, Maroteaux type",[Pseudo-Morquio syndrome type 2],"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.",[184095],,,,,Spondyloepiphyseal dysplasia Maroteaux type,TRUE,FALSE,Active +GARD:9940,Active,Orphanet,ORPHA:66631,Disorder,[Disease],CEDNIK syndrome,[Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome],"A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.",[609528],,,,,"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome",TRUE,FALSE,Active +GARD:9941,Active,Orphanet,ORPHA:269,Disorder,[Disease],Facioscapulohumeral dystrophy,"[FSH dystrophy, FSHD, Facioscapulohumeral muscular dystrophy, Facioscapulohumeral myopathy, Landouzy-Dejerine dystrophy, Landouzy-Dejerine myopathy]","A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.","[158900, 600416, 158901]",,,,,Facioscapulohumeral muscular dystrophy,TRUE,FALSE,Active +GARD:9942,Legacy,GARD,,,,,,,,,,,,"Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands",TRUE,FALSE,Active +GARD:9943,Active,Orphanet+OMIM,OMIM:301200,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ie","[Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1, amelogenesis imperfecta, hypomaturation type, with snow-capped teeth, enamel hypoplasia, x-linked, amelogenesis imperfecta, x-linked 1]","Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms ({22:Witkop, 1988}).",[301200],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1,TRUE,FALSE,Active +GARD:9944,Active,Orphanet+OMIM,OMIM:301201,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2",,"For a description of hypoplastic/hypomaturation amelogenesis imperfecta, see {301200}.",[301201],[100031],[Hypoplastic amelogenesis imperfecta],[645],,"Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2",TRUE,FALSE,Active +GARD:9945,Legacy,GARD,,,,,,,,,,,,"Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features",TRUE,FALSE,Retired +GARD:9946,Legacy,GARD,,,,,,,,,,,,"Arthrogryposis multiplex with deafness, inguinal hernias, and early death",TRUE,FALSE,Active +GARD:9947,Active,Orphanet,ORPHA:137831,Disorder,[Disease],X-linked intellectual disability-cerebellar hypoplasia syndrome,"[OPHN1 syndrome, Oligophrenin-1 syndrome]","X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.",[300486],,,,,Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance,TRUE,FALSE,Retired +GARD:9948,Legacy,GARD,,,,,,,,,,,,Beriberi,TRUE,FALSE,Active +GARD:9949,Legacy,GARD,,,,,,,,,,,,Citrulline transport defect,TRUE,FALSE,Active +GARD:995,Active,Orphanet+OMIM,OMIM:271530,Subtype of disorder,[Malformation syndrome subtype],"Brachyolmia type 1, hobaek type","[Brachyolmia, recessive type of hobaek, spondylodysplasia with pure brachyolmia]","{9:Rock et al. (2008)} provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (BCYM1B; {271630}) forms, which are inherited in an autosomal recessive fashion. Both forms of type 1 are characterized by scoliosis, platyspondyly with rectangular and elongated vertebral bodies, overfaced pedicles, and irregular, narrow intervertebral spaces. The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Type 2 brachyolmia (BCYM2; {613678}), sometimes referred to as the Maroteaux type, is also an autosomal recessive disorder, primarily distinguished from type 1 by rounded vertebral bodies and less overfaced pedicles. Some cases are associated with precocious calcification of the falx cerebri. Type 3 brachyolmia (BCYM3; {113500}) is an autosomal dominant form, caused by mutation in the TRPV4 gene ({605427}), with severe kyphoscoliosis and flattened, irregular cervical vertebrae. Paradoxically, although the limbs are mildly shortened in all types of brachyolmia, they show minimal epiphyseal and metaphyseal abnormalities on radiographs. Type 4 brachyolmia (BCYM4; {612847}) is an autosomal recessive form, caused by mutation in the PAPSS2 gene ({603005}), with mild epiphyseal and metaphyseal changes.",[271530],[448242],[Autosomal recessive brachyolmia],[13171],,Brachyolmia type 1 Hobaek type,TRUE,FALSE,Retired +GARD:9950,Active,Orphanet,ORPHA:101108,Disorder,[Disease],Spinocerebellar ataxia type 23,[SCA23],"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.",[610245],,,,,Spinocerebellar ataxia 23,TRUE,FALSE,Active +GARD:9951,Active,Orphanet,ORPHA:101109,Disorder,[Disease],Spinocerebellar ataxia type 28,[SCA28],"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.",[610246],,,,,Spinocerebellar ataxia 28,TRUE,FALSE,Active +GARD:9952,Active,Orphanet,ORPHA:83461,Disorder,[Malformation syndrome],Congenital primary aphakia,,A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects.,[610256],,,,,Congenital primary aphakia,TRUE,FALSE,Active +GARD:9953,Active,Orphanet,ORPHA:251627,Disorder,[Disease],Oligodendroglioma,,"A rare glial tumor characterized by a highly cellular lesion that is diffusly infiltrating at the periphery and consists of evenly-spaced monomorphic cells with the oligodendroglial phenotype. It typically occurs in the supratentorial white matter. Histologically, the cells are uniformly round to oval with round nuclei, delicate chromatin and small nucleoli. Most patients present with seizures.","[137800, 616568]",,,,,Oligodendroglioma,TRUE,FALSE,Active +GARD:9956,Legacy,GARD,,,,,,,,,,,,Hutterite cerebroosteonephrodysplasia syndrome,TRUE,FALSE,Active +GARD:9957,Legacy,GARD,,,,,,,,,,,,"Hypodontia, X-linked",TRUE,FALSE,Active +GARD:9958,Legacy,GARD,,,,,,,,,,,,Tiglic acidemia,TRUE,FALSE,Active +GARD:9959,Active,Orphanet,ORPHA:83476,Disorder,[Disease],West-Nile encephalitis,[West-Nile fever],"An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.",[610379],,,,,West Nile virus encephalitis,TRUE,FALSE,Active +GARD:9960,Legacy,GARD,,,,,,,,,,,,Superficial spreading melanoma,TRUE,FALSE,Active +GARD:9961,Legacy,GARD,,,,,,,,,,,,Nodular melanoma,TRUE,FALSE,Active +GARD:9962,Legacy,GARD,,,,,,,,,,,,Lentigo maligna melanoma,TRUE,FALSE,Active +GARD:9963,Active,Orphanet,ORPHA:98764,Disorder,[Disease],Spinocerebellar ataxia type 27,[SCA27],"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.",[609307],,,,,Spinocerebellar ataxia 27,TRUE,FALSE,Active +GARD:9964,Active,Orphanet,ORPHA:97234,Disorder,[Disease],Glycogen storage disease due to phosphoglycerate mutase deficiency,"[GSD due to phosphoglycerate mutase deficiency, GSD type 10, Glycogenosis due to phosphoglycerate mutase deficiency, Muscle phosphoglycerate mutase deficiency, Myopathy due to phosphoglycerate mutase deficiency]","Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria. Less than 50 cases have been described so far. The disease is due to an anomaly in one of the last steps of glycolysis. The enzymatic defect in PGAMD is caused by mutations in the cDNA coding for the M-isoform of PGAM. Residual PGAM activity in the muscles of patients (2%-6%) is due to activity of the B-isoform. Transmission is autosomal recessive. Differential diagnosis includes muscle phosphorylase deficiency (McArdle disease) and phosphofructokinase deficiency (PFKD) (see these terms).",[261670],,,,,Phosphoglycerate mutase deficiency,TRUE,FALSE,Active +GARD:9965,Active,Orphanet,ORPHA:83639,Disorder,[Disease],Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,"[Congenital disorder of glycosylation due to PIGM deficiency, PIGM-CDG]","A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.",[610293],,,,,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,TRUE,FALSE,Active +GARD:9966,Active,Orphanet+OMIM,OMIM:604356,Subtype of disorder,[Malformation syndrome subtype],Duane retraction syndrome 2,,"Duane retraction syndrome (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by {7:Miyake et al., 2010}).\n\nFor a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 ({126800}).",[604356],[233],[Duane retraction syndrome],[6288],,Duane syndrome type 2,TRUE,FALSE,Retired +GARD:9967,Legacy,GARD,,,,,,,,,,,,Sertoli-leydig cell tumors,TRUE,FALSE,Active +GARD:9968,Legacy,GARD,,,,,,,,,,,,"Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa",TRUE,FALSE,Active +GARD:9969,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia 19,TRUE,FALSE,Retired +GARD:9970,Active,Orphanet,ORPHA:98765,Disorder,[Disease],Spinocerebellar ataxia type 4,[SCA4],Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.,[600223],,,,,Spinocerebellar ataxia 4,TRUE,FALSE,Active +GARD:9971,Active,Orphanet,ORPHA:95433,Disorder,[Disease],Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,"[Autosomal recessive spinocerebellar ataxia type 3, Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome, SCABD, SCAR3]",A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.,[271250],,,,,Spinocerebellar ataxia autosomal recessive 3,TRUE,FALSE,Active +GARD:9972,Legacy,GARD,,,,,,,,,,,,Congenital absence of the sternocleidomastoid muscle,TRUE,FALSE,Active +GARD:9973,Legacy,GARD,,,,,,,,,,,,Splenic infarcts,TRUE,FALSE,Active +GARD:9974,Legacy,GARD,,,,,,,,,,,,Angiosarcoma of the breast,TRUE,FALSE,Active +GARD:9975,Active,Orphanet,ORPHA:217012,Disorder,[Disease],Spinocerebellar ataxia type 31,[SCA31],"An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.",[117210],,,,,Spinocerebellar ataxia 31,TRUE,FALSE,Active +GARD:9976,Active,Orphanet,ORPHA:98771,Disorder,[Disease],Spinocerebellar ataxia type 18,[SCA18],Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.,[607458],,,,,Spinocerebellar ataxia 18,TRUE,FALSE,Active +GARD:9977,Active,Orphanet,ORPHA:83472,Disorder,[Malformation syndrome],CAMOS syndrome,"[Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome, SCAR5]","A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.",,,,,,Spinocerebellar ataxia autosomal recessive 5,TRUE,FALSE,Active +GARD:9978,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia X-linked type 2,TRUE,FALSE,Active +GARD:9979,Legacy,GARD,,,,,,,,,,,,Megarbane syndrome,TRUE,FALSE,Active +GARD:998,Active,Orphanet,ORPHA:1538,Disorder,[Malformation syndrome],Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,[Braddock-Jones-Superneau syndrome],"A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.",[123155],,,,,Braddock Jones Superneau syndrome,TRUE,FALSE,Active +GARD:9980,Active,Orphanet,ORPHA:85292,Disorder,[Disease],X-linked spinocerebellar ataxia type 4,"[SCAX4, X-linked ataxia-dementia syndrome]","Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.",[301840],,,,,Spinocerebellar ataxia X-linked type 4,TRUE,FALSE,Active +GARD:9981,Active,Orphanet,ORPHA:85297,Disorder,[Malformation syndrome],X-linked spinocerebellar ataxia type 3,"[SCAX3, X-linked ataxia-deafness syndrome, X-linked ataxia-hearing loss syndrome]","X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.",[301790],,,,,Spinocerebellar ataxia X-linked type 3,TRUE,FALSE,Active +GARD:9983,Active,Orphanet+OMIM,OMIM:604537,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 5,,,[604537],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 5,TRUE,FALSE,Active +GARD:9984,Active,Orphanet,ORPHA:85283,Disorder,[Malformation syndrome],"X-linked intellectual disability, Miles-Carpenter type",,"X-linked mental retardation, Miles-Carpenter type is characterised by severe intellectual deficit, microcephaly, exotropia and low digital arches.",[314580],,,,,Miles-Carpenter x-linked mental retardation syndrome,TRUE,FALSE,Retired +GARD:9985,Legacy,GARD,,,,,,,,,,,,Jejunal atresia with renal adysplasia,TRUE,FALSE,Active +GARD:9986,Legacy,GARD,,,,,,,,,,,,"Severe combined immunodeficiency, atypical",TRUE,FALSE,Active +GARD:9987,Active,Orphanet,ORPHA:275,Disorder,[Disease],Severe combined immunodeficiency due to DCLRE1C deficiency,"[SCID due to ARTEMIS deficiency, SCID due to DCLRE1C deficiency, SCID, Athabascan type, SCID, Athabaskan type, Severe combined immunodeficiency due to ARTEMIS deficiency, Severe combined immunodeficiency, Athabascan type, Severe combined immunodeficiency, Athabaskan type]","Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.",[602450],,,,,Severe combined immunodeficiency with sensitivity to ionizing radiation,TRUE,FALSE,Active +GARD:9989,Active,Orphanet,ORPHA:90154,Subtype of disorder,[Clinical subtype],Mandibuloacral dysplasia with type B lipodystrophy,,,[608612],,,,,Mandibuloacral dysplasia with type B lipodystrophy,TRUE,FALSE,Active +GARD:9990,Legacy,GARD,,,,,,,,,,,,"Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules",TRUE,FALSE,Active +GARD:9991,Active,Orphanet,ORPHA:75496,Subtype of disorder,[Clinical subtype],B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,"[B4GALT7-related spondylodysplastic EDS, EDS progeroid type 1, EDS with short stature and limb anomalies, spEDS-B4GALT7]","A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities.","[130070, 615349]",,,,,Spondylodysplastic Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:9992,Legacy,GARD,,,,,,,,,,,,Midphalangeal hair,TRUE,FALSE,Active +GARD:9993,Active,Orphanet,ORPHA:97229,Disorder,[Malformation syndrome],Riboflavin transporter deficiency,[Brown-Vialetto-van Laere syndrome],"A rare, genetic motor neuron disease characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished.","[211500, 211530, 614707]",,,,,Riboflavin transporter deficiency,TRUE,FALSE,Active +GARD:9994,Active,Orphanet,ORPHA:600731,Disorder,[Malformation syndrome],Clark-Baraitser syndrome,,,[617752],,,,,Clark-Baraitser syndrome,TRUE,FALSE,Active +GARD:9995,Active,Orphanet,ORPHA:101112,Disorder,[Disease],Spinocerebellar ataxia type 26,[SCA26],A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.,[609306],,,,,Spinocerebellar ataxia 26,TRUE,FALSE,Active +GARD:9996,Active,Orphanet,ORPHA:101111,Disorder,[Disease],Spinocerebellar ataxia type 25,[SCA25],Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.,[608703],,,,,Spinocerebellar ataxia 25,TRUE,FALSE,Active +GARD:9997,Active,Orphanet,ORPHA:101110,Disorder,[Disease],Spinocerebellar ataxia type 20,[SCA20],Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.,[608687],,,,,Spinocerebellar ataxia 20,TRUE,FALSE,Active +GARD:9998,Active,Orphanet,ORPHA:70595,Disorder,[Disease],Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,[SANDO],"A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.",[607459],,,,,"Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",TRUE,FALSE,Active +GARD:9999,Active,Orphanet,ORPHA:98773,Disorder,[Disease],Spinocerebellar ataxia type 21,[SCA21],"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.",[607454],,,,,Spinocerebellar ataxia 21,TRUE,FALSE,Active diff --git a/RDAS_GFKG/OrphanMap/Gard_V1.csv b/RDAS_GFKG/OrphanMap/Gard_V1.csv new file mode 100644 index 0000000..b4208f0 --- /dev/null +++ b/RDAS_GFKG/OrphanMap/Gard_V1.csv @@ -0,0 +1,12005 @@ +GardId,GardName,Synonyms +"""GARD:0000001""",gracile syndrome,"['fellman disease', 'growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome']" +"""GARD:0000003""",ablepharon macrostomia syndrome,[] +"""GARD:0000005""",abetalipoproteinemia,"['bassen-kornzweig disease', 'homozygous familial hypobetalipoproteinemia']" +"""GARD:0000006""",acromesomelic dysplasia,[] +"""GARD:0000007""",acromicric dysplasia,[] +"""GARD:0000011""",alternating hemiplegia of childhood,['ahc'] +"""GARD:0000012""",hypersensitivity pneumonitis,['extrinsic allergic alveolitis'] +"""GARD:0000013""",aniridia-cerebellar ataxia-intellectual disability syndrome,['gillespie syndrome'] +"""GARD:0000016""","ocular motor apraxia, cogan type",['oculomotor apraxia; cogan type'] +"""GARD:0000017""",arachnoid cyst,[] +"""GARD:0000019""",dihydropyrimidine dehydrogenase deficiency,['familial pyrimidinemia'] +"""GARD:0000022""",björnstad syndrome,"['deafness-pili torti-hypogonadism syndrome', 'hearing loss-pili torti-hypogonadism syndrome']" +"""GARD:0000023""",blepharophimosis-ptosis-epicanthus inversus syndrome,['bpes'] +"""GARD:0000026""",cat-eye syndrome,['ces'] +"""GARD:0000027""",cat-scratch disease,['bartonellosis due to bartonella henselae infection'] +"""GARD:0000028""",catel-manzke syndrome,"['hyperphalangy-clinodactyly of index finger with pierre robin syndrome', 'index finger anomaly-pierre robin syndrome', 'micrognathia digital syndrome', 'palatodigital syndrome; catel-manzke type', 'pierre robin sequence-hyperphalangy-clinodactyly syndrome', 'pierre robin syndrome-hyperphalangy-clinodactyly syndrome']" +"""GARD:0000029""",charge syndrome,"['charge association', 'coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome', 'hall-hittner syndrome']" +"""GARD:0000031""",serpiginous choroiditis,['geographic helicoid peripapillary choroidopathy'] +"""GARD:0000035""",tetrasomy 18p,['isochromosome 18p'] +"""GARD:0000037""",partial deletion of the short arm of chromosome 3,"['partial deletion of chromosome 3p', 'partial monosomy of chromosome 3p', 'partial monosomy of the short arm of chromosome 3']" +"""GARD:0000039""",wt limb-blood syndrome,[] +"""GARD:0000042""",tetrasomy 9p,['isochromosome 9p'] +"""GARD:0000043""",mosaic trisomy 9,"['mosaic trisomy chromosome 9', 'trisomy 9 mosaicism']" +"""GARD:0000044""",haim-munk syndrome,"['keratosis palmoplantaris-periodontopathia-onychogryposis syndrome', 'palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome', 'palmoplantar keratoderma-periodontopathia-onychogryposis syndrome']" +"""GARD:0000045""",congenital varicella syndrome,"['antenatal varicella virus infection', 'mother-to-child transmission of varicella syndrome']" +"""GARD:0000047""",crigler-najjar syndrome type 1,"['bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1', 'bilirubin-ugt deficiency type 1']" +"""GARD:0000048""",isolated cytochrome c oxidase deficiency,"['isolated cox deficiency', 'isolated mitochondrial respiratory chain complex iv deficiency']" +"""GARD:0000049""",de barsy syndrome,"['cutis laxa-corneal clouding-intellectual disability syndrome', 'progeroid syndrome; de barsy type']" +"""GARD:0000054""",duodenal atresia,[] +"""GARD:0000059""",spinocerebellar ataxia type 34,"['erythrokeratodermia with ataxia', 'sca34', 'spinocerebellar ataxia and erythrokeratodermia']" +"""GARD:0000060""",iridocorneal endothelial syndrome,['ice syndrome'] +"""GARD:0000061""",femoral-facial syndrome,"['ffs', 'fhufs', 'femoral hypoplasia-unusual facies syndrome']" +"""GARD:0000062""",filippi syndrome,['type 1 syndactyly-microcephaly-intellectual disability syndrome'] +"""GARD:0000064""",fountain syndrome,"['deafness-skeletal dysplasia-coarse face with full lips syndrome', 'deafness-skeletal dysplasia-lip granuloma syndrome', 'hearing loss-skeletal dysplasia-coarse face with full lips syndrome', 'hearing loss-skeletal dysplasia-lip granuloma syndrome']" +"""GARD:0000065""",galloway-mowat syndrome,"['galloway syndrome', 'microcephaly-hiatus hernia-nephrotic syndrome', 'nephrosis-neuronal dysmigration syndrome']" +"""GARD:0000066""",gorlin-chaudhry-moss syndrome,"['craniofacial dysostosis-genital; dental; cardiac anomalies syndrome', 'cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome', 'dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome', 'gcm syndrome']" +"""GARD:0000068""",hypoglossia-hypodactyly syndrome,"['aglossia-adactylia syndrome', 'hanhart syndrome', 'jussieu syndrome']" +"""GARD:0000069""",hantavirus pulmonary syndrome,[] +"""GARD:0000070""",kasabach-merritt syndrome,['hemangioma-thrombocytopenia syndrome'] +"""GARD:0000073""",x-linked hyper-igm syndrome,"['higm1', 'hyper-igm syndrome due to cd40 ligand deficiency', 'hyper-igm syndrome due to cd40l deficiency', 'hyper-igm syndrome type 1', 'xhigm']" +"""GARD:0000076""",hypohidrotic ectodermal dysplasia,"['anhidrotic ectodermal dysplasia', 'hed']" +"""GARD:0000079""","metaphyseal chondrodysplasia, jansen type",[] +"""GARD:0000080""",johanson-blizzard syndrome,['jbs'] +"""GARD:0000081""","intellectual developmental disorder, x-linked, syndromic, turner type","['mental retardation and macrocephaly syndrome', 'mental retardation; x-linked; with growth retardation; deafness; and microgenitalism', 'juberg-marsidi syndrome', 'mental retardation; x-linked; syndromic; brooks-wisniewski-brown type', 'mental retardation; x-linked; syndromic; turner type', 'brooks-wisniewski-brown syndrome']" +"""GARD:0000082""",kbg syndrome,['short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome'] +"""GARD:0000083""",autosomal dominant kenny-caffey syndrome,[] +"""GARD:0000084""","lipodystrophy, congenital generalized, type 1","['lipodystrophy; berardinelli-seip congenital; type 1', 'berardinelli-seip congenital lipodystrophy; type 1', 'brunzell syndrome; agpat2-related']" +"""GARD:0000085""",thanatophoric dysplasia,['td'] +"""GARD:0000086""",chudley-mccullough syndrome,[] +"""GARD:0000087""","microphthalmia, lenz type",['lenz microphthalmia'] +"""GARD:0000088""",leri pleonosteosis,[] +"""GARD:0000092""",mal de meleda,"['keratosis palmoplantaris transgrediens of siemens', 'meleda disease', 'transgrediens palmoplantar keratoderma of siemens']" +"""GARD:0000093""",monilethrix,['moniliform hair syndrome'] +"""GARD:0000094""",mucolipidosis type iv,[] +"""GARD:0000095""",mulibrey nanism,"['mul', 'mulibrey growth disorder', 'muscle-liver-brain-eye nanism']" +"""GARD:0000101""",centronuclear myopathy,['cnm'] +"""GARD:0000102""",neu-laxova syndrome,[] +"""GARD:0000104""",ochoa syndrome,"['hydronephrosis-inverted smile syndrome', 'inverted smile-neurogenic bladder syndrome', 'partial facial palsy with urinary abnormalities', 'urofacial syndrome']" +"""GARD:0000105""","oculocerebral hypopigmentation syndrome, cross type",['cross syndrome'] +"""GARD:0000106""",oculocerebrocutaneous syndrome,"['delleman syndrome', 'delleman-oorthuys syndrome', 'leichtman-wood-rohn syndrome', 'occs', 'orbital cyst with cerebral and focal dermal malformations']" +"""GARD:0000108""",adult polyglucosan body disease,['apbd'] +"""GARD:0000109""",progressive osseous heteroplasia,"['familial ectopic ossification', 'poh']" +"""GARD:0000111""",recurrent respiratory papillomatosis,[] +"""GARD:0000112""",infant acute respiratory distress syndrome,"['hyaline membrane disease', 'infant ards', 'infant respiratory distress syndrome', 'neonatal respiratory distress syndrome']" +"""GARD:0000114""",x-linked charcot-marie-tooth disease type 5,"['cmt5x', 'cmtx5']" +"""GARD:0000116""",alpha-n-acetylgalactosaminidase deficiency type 1,"['naga deficiency type 1', 'schindler disease type 1']" +"""GARD:0000117""",schinzel-giedion syndrome,['sgs'] +"""GARD:0000118""",ulnar-mammary syndrome,"['pallister ulnar-mammary syndrome', 'schinzel syndrome', 'ums']" +"""GARD:0000121""",focal facial dermal dysplasia type iii,"['ffdd type iii', 'ffdd3', 'focal facial dermal dysplasia 3; setleis type', 'setleis syndrome']" +"""GARD:0000122""",singleton-merten dysplasia,['singleton-merten syndrome'] +"""GARD:0000125""",acrokeratoelastoidosis of costa,"['ake', 'ppkp3', 'punctate palmoplantar hyperkeratosis type 3', 'punctate palmoplantar keratoderma type 3']" +"""GARD:0000127""",summitt syndrome,[] +"""GARD:0000132""",primary cutaneous amyloidosis,"['plca', 'primary localized cutaneous amyloidosis']" +"""GARD:0000134""","spondyloepimetaphyseal dysplasia congenita, strudwick type",[] +"""GARD:0000139""",familial atrial myxoma,[] +"""GARD:0000140""",atresia of small intestine,"['apple peel syndrome', 'intestinal atresia type iiib', 'jejunal atresia', 'jejunoileal atresia', 'small intestinal atresia']" +"""GARD:0000143""",hypertrichosis cubiti,"['hairy elbows syndrome', 'macdermot-patton-williams syndrome']" +"""GARD:0000144""",prominent glabella-microcephaly-hypogenitalism syndrome,['macdermot-winter syndrome'] +"""GARD:0000155""",laurin-sandrow syndrome,"['mirror hands and feets-nasal defects syndrome', 'sandrow syndrome']" +"""GARD:0000156""",muscle-eye-brain disease,"['meb syndrome', 'muscle-eye-brain syndrome', 'santavuori congenital muscular dystrophy']" +"""GARD:0000157""",hirschsprung disease-deafness-polydactyly syndrome,"['hirschsprung disease-hearing loss-polydactyly syndrome', 'santos-mateus-leal syndrome']" +"""GARD:0000158""",sarcosinemia,['sarcosine dehydrogenase complex deficiency'] +"""GARD:0000159""",scalp-ear-nipple syndrome,['finlay-marks syndrome'] +"""GARD:0000160""",satoyoshi syndrome,['komuragaeri disease'] +"""GARD:0000162""",cleft palate-large ears-small head syndrome,['say-barber-hobbs syndrome'] +"""GARD:0000166""",schizencephaly,[] +"""GARD:0000169""",schneckenbecken dysplasia,"['chondrodysplasia with snail-like pelvis', 'slc35d1-cdg']" +"""GARD:0000172""",macrocephaly-short stature-paraplegia syndrome,['volcke-soekarman syndrome'] +"""GARD:0000175""","free sialic acid storage disease, infantile form",['issd'] +"""GARD:0000176""",macrophagic myofasciitis,['mmf'] +"""GARD:0000177""",macrosomia-microphthalmia-cleft palate syndrome,['teebi-al saleh-hassoon syndrome'] +"""GARD:0000178""",momo syndrome,"['macrocephaly-obesity-mental disability-ocular abnormalities syndrome', 'macrosomia-obesity-macrocephaly-ocular abnormalities syndrome']" +"""GARD:0000180""",myh9-related disease,"['myh9-rd', 'myh9-related disorder', 'myh9-related syndrome', 'myh9-related syndromic thrombocytopenia']" +"""GARD:0000181""",stargardt disease,"['fundus flavimaculatus', 'stargardt 1']" +"""GARD:0000182""",best vitelliform macular dystrophy,"['bmd', 'bvmd', 'best disease', 'best macular dystrophy', 'early-onset vitelliform macular dystrophy', 'juvenile-onset vitelliform macular dystrophy', 'polymorphic vitelline macular degeneration', 'vitelliform macular dystrophy type 2']" +"""GARD:0000184""",yellow nail syndrome,"['lymphedema with yellow nails', 'yns']" +"""GARD:0000192""",cataract-intellectual disability-anal atresia-urinary defects syndrome,['karandikar-maria-kamble syndrome'] +"""GARD:0000193""",opitz gbbb syndrome,"['hypertelorism-hypospadias syndrome', 'hypertelorism-oesophageal abnormality-hypospadias syndrome', 'hypospadias-dysphagia syndrome', 'opitz bbb/g syndrome', 'opitz bbbg syndrome', 'opitz g/bbb syndrome', 'opitz-frias syndrome']" +"""GARD:0000194""",gamma-aminobutyric acid transaminase deficiency,['gaba transaminase deficiency'] +"""GARD:0000195""",hyperkalemic periodic paralysis,"['adynamia episodica hereditaria', 'familial hyperpp', 'familial hyperkalemic periodic paralysis', 'gamstorp disease', 'gamstorp episodic adynamy', 'hypp', 'hyperkpp', 'hyperpp', 'hyperkalemic pp', 'primary hyperpp', 'primary hyperkalemic periodic paralysis']" +"""GARD:0000198""",proximal spinal muscular atrophy type 3,"['juvenile spinal muscular atrophy', 'kugelberg-welander disease', 'sma type 3', 'sma type iii', 'sma-iii', 'sma3']" +"""GARD:0000200""",central serous chorioretinopathy,['cscr'] +"""GARD:0000201""",ascher syndrome,['blepharochalasis-double lip syndrome'] +"""GARD:0000206""",nephronophthisis,[] +"""GARD:0000207""",alveolar echinococcosis,['echinococcus multilocularis infection'] +"""GARD:0000212""","oculodental syndrome, rutherfurd type","['gingival hypertrophy-corneal dystrophy', 'rutherfurd syndrome']" +"""GARD:0000213""",axial mesodermal dysplasia spectrum,"['blastogenesis defect', 'russell-weaver-bull syndrome']" +"""GARD:0000215""",familial caudal dysgenesis,['rudd-klimek syndrome'] +"""GARD:0000216""",camptodactyly-joint contractures-facial skeletal defects syndrome,['rozin camptodactyly syndrome'] +"""GARD:0000218""",rotor syndrome,['hyperbilirubinemia; rotor type'] +"""GARD:0000220""",peripartum cardiomyopathy,['postpartum cardiomyopathy'] +"""GARD:0000221""",dilated cardiomyopathy,[] +"""GARD:0000223""",vestibular schwannoma,"['acoustic neurilemoma', 'acoustic neurinoma', 'acoustic neuroma']" +"""GARD:0000224""",radio-renal syndrome,[] +"""GARD:0000225""",radial hemimelia,"['congenital longitudinal deficiency of the radius', 'radial clubhand', 'radial longitidinal meromelia', 'radial ray agenesis']" +"""GARD:0000226""",rabson-mendenhall syndrome,[] +"""GARD:0000229""",gómez-lópez-hernández syndrome,"['cerebellotrigeminal-dermal dysplasia syndrome', 'craniosynostosis-alopecia-brain defect syndrome']" +"""GARD:0000230""",microcephaly-deafness-intellectual disability syndrome,"['kawashima-tsuji syndrome', 'microcephaly-hearing loss-intellectual disability syndrome']" +"""GARD:0000231""",cach syndrome,"['childhood ataxia with diffuse central nervous system hypomyelination', 'leukoencephalopathy with vanishing white matter', 'myelinosis centralis diffusa']" +"""GARD:0000232""",medullary sponge kidney,"['cacchi-ricci disease', 'msk', 'precalicial canalicular ectasia']" +"""GARD:0000234""",d-glyceric aciduria,"['d-glycerate kinase deficiency', 'd-glyceric acidemia']" +"""GARD:0000236""",hydrocephalus-blue sclerae-nephropathy syndrome,['daentl-townsend-siegel syndrome'] +"""GARD:0000237""",dahlberg-borer-newcomer syndrome,"['dahlberg syndrome', 'lymphedema-hypoparathyroidism syndrome']" +"""GARD:0000238""",odontomatosis-aortae esophagus stenosis syndrome,['boder syndrome'] +"""GARD:0000239""",say-barber-miller syndrome,['microcephaly-hypogammaglobulinemia-abnormal immunity syndrome'] +"""GARD:0000241""",scalp defects-postaxial polydactyly syndrome,[] +"""GARD:0000243""",trigonocephaly-short stature-developmental delay syndrome,['say-meyer syndrome'] +"""GARD:0000246""",schisis association,[] +"""GARD:0000247""",scarf syndrome,[] +"""GARD:0000248""",cataract-deafness-hypogonadism syndrome,"['cataract-hearing loss-hypogonadism syndrome', 'schaap-taylor-baraitser syndrome']" +"""GARD:0000249""","craniodiaphyseal dysplasia, autosomal dominant",[] +"""GARD:0000250""",schwartz-jampel syndrome,"['aberfeld syndrome', 'burton skeletal dysplasia', 'burton syndrome', 'catel-hempel syndrome', 'dysostosis enchondralis metaepiphysaria; catel-hempel type', 'myotonic chondrodystrophy', 'myotonic myopathy; dwarfism; chondrodystrophy; ocular and facial anomalies', 'osteochondromuscular dystrophy', 'sjs', 'sjs1', 'schwartz-jampel syndrome type 1', 'schwartz-jampel-aberfeld syndrome']" +"""GARD:0000257""",intellectual disability-balding-patella luxation-acromicria syndrome,['scholte-begeer-van essen syndrome'] +"""GARD:0000258""",radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,['schmitt-gillenwater-kelly syndrome'] +"""GARD:0000259""",nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome,[] +"""GARD:0000262""",narp syndrome,"['neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome', 'neuropathy-ataxia-retinitis pigmentosa syndrome']" +"""GARD:0000264""",lowry-wood syndrome,['epiphyseal dysplasia-microcephaly-nystagmus syndrome'] +"""GARD:0000265""",trichodental syndrome,['kersey syndrome'] +"""GARD:0000267""",keipert syndrome,['nasodigitoacoustic syndrome'] +"""GARD:0000269""",ivic syndrome,"['oculo-oto-radial syndrome', 'radial ray defects; hearing impairment; external ophthalmoplegia; and thrombocytopenia']" +"""GARD:0000270""",nicolaides-baraitser syndrome,['intellectual disability-sparse hair-brachydactyly syndrome'] +"""GARD:0000272""",vacterl with hydrocephalus,['sujansky-leonard syndrome'] +"""GARD:0000273""",wrinkly skin syndrome,"['wss', 'wrinkled skin syndrome']" +"""GARD:0000274""",x-linked immunoneurologic disorder,['woods-black-norbury syndrome'] +"""GARD:0000276""",hypogonadotropic hypogonadism 12 with or without anosmia,"['eunuchoidism; familial hypogonadotropic', 'gonadotropin deficiency; familial idiopathic']" +"""GARD:0000277""",pilodental dysplasia-refractive errors syndrome,"['euhidrotic ectodermal dysplasia', 'kopysc-barczyk-krol syndrome']" +"""GARD:0000280""","hidrotic ectodermal dysplasia, halal type","['halal-setton-wang syndrome', 'trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome']" +"""GARD:0000282""",lethal osteosclerotic bone dysplasia,['raine syndrome'] +"""GARD:0000284""",lymphedema-atrial septal defects-facial changes syndrome,"['irons-bhan syndrome', 'irons-bianchi syndrome']" +"""GARD:0000287""",hypertelorism-hypospadias-polysyndactyly syndrome,"['acrofrontofacionasal dysostosis type 2', 'acrofrontofacionasal syndrome type 2', 'naguib-richieri-costa syndrome']" +"""GARD:0000288""",hallermann-streiff syndrome,"['françois dyscephalic syndrome', 'oculomandibulofacial syndrome']" +"""GARD:0000290""",hallermann-streiff-like syndrome,"['dennis-fairhurst-moore syndrome', 'hallermann-streiff-françois syndrome; severe form', 'severe hallermann-streiff-françois syndrome']" +"""GARD:0000292""",ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,['jagell-holmgren-hofer syndrome'] +"""GARD:0000296""",short tarsus-absence of lower eyelashes syndrome,['lopes-gorlin syndrome'] +"""GARD:0000298""",hypergonadotropic hypogonadism-cataract syndrome,['lubinsky syndrome'] +"""GARD:0000299""",late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,['late-onset localized jeb-intellectual disability syndrome'] +"""GARD:0000302""",kostmann syndrome,"['infantile agranulocytosis', 'severe congenital neutropenia type 3']" +"""GARD:0000304""",blau syndrome,[] +"""GARD:0000305""",conductive deafness-ptosis-skeletal anomalies syndrome,"['conductive hearing loss-ptosis-skeletal anomalies syndrome', 'jackson-barr syndrome']" +"""GARD:0000306""",camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,"['arthropathy-camptodactyly syndrome', 'cacp syndrome', 'jacobs syndrome', 'pericarditis-arthropathy-camptodactyly syndrome']" +"""GARD:0000307""",jacobsen syndrome,"['11q terminal deletion syndrome', 'del(11)(q23.3)', 'del(11)(qter)', 'distal deletion 11q', 'distal monosomy 11q', 'monosomy 11qter', 'telomeric deletion 11q']" +"""GARD:0000310""",chime syndrome,"['coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome', 'congenital disorder of glycosylation due to pigl deficiency', 'neuroectodermal dysplasia; chime type', 'neuroectodermal syndrome; zunich type', 'pigl-cdg', 'zunich-kaye syndrome']" +"""GARD:0000312""",robinow syndrome,"['acral dysostosis with facial and genital abnormalities', 'fetal face syndrome', 'mesomelic dwarfism-small genitalia syndrome', 'robinow dwarfism', 'robinow-silverman-smith syndrome']" +"""GARD:0000314""",saccharopinuria,"['hyperlysinemia type ii', 'saccharopine dehydrogenase deficiency']" +"""GARD:0000319""",sacrococcygeal teratoma,[] +"""GARD:0000320""",fibulo-ulnar hypoplasia-renal anomalies syndrome,['saito-kuba-tsuruta syndrome'] +"""GARD:0000321""",nail-patella-like renal disease,['salcedo syndrome'] +"""GARD:0000322""",senior-loken syndrome,"['nephronophthisis with retinal dystrophy', 'renal dysplasia-retinal aplasia syndrome', 'slsn']" +"""GARD:0000324""",hypogonadotropic hypogonadism-frontoparietal alopecia syndrome,['salti-salem syndrome'] +"""GARD:0000325""",twin to twin transfusion syndrome,['feto-fetal transfusion syndrome'] +"""GARD:0000329""",wells syndrome,['eosinophilic cellulitis'] +"""GARD:0000330""",wiedemann-rautenstrauch syndrome,['neonatal progeroid syndrome'] +"""GARD:0000331""",yunis-varon syndrome,['cleidocranial dysplasia-micrognathia-absent thumbs syndrome'] +"""GARD:0000332""",cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,['beare-stevenson cutis gyrata syndrome'] +"""GARD:0000333""",lymphedema-distichiasis syndrome,[] +"""GARD:0000334""",dyschromatosis symmetrica hereditaria,['acropigmentation of dohi'] +"""GARD:0000336""",autosomal recessive spastic paraplegia type 23,"['lison syndrome', 'spg23', 'spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome']" +"""GARD:0000341""",young syndrome,['azoospermia-sinopulmonary infections syndrome'] +"""GARD:0000343""",pontocerebellar hypoplasia type 4,"['fatal infantile encephalopathy with olivopontocerebellar hypoplasia', 'olivopontocerebellar hypoplasia', 'pch4']" +"""GARD:0000344""",holoprosencephaly-postaxial polydactyly syndrome,['pseudo-trisomy 13 syndrome'] +"""GARD:0000345""",x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome,['young-hughes syndrome'] +"""GARD:0000346""",hoyeraal-hreidarsson syndrome,['progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome'] +"""GARD:0000347""",pancreatic hypoplasia-diabetes-congenital heart disease syndrome,['yorifuji-okuno syndrome'] +"""GARD:0000348""",yolk sac tumor,['endodermal sinus tumor'] +"""GARD:0000350""",skeletal dysplasia-epilepsy-short stature syndrome,['gurrieri-sammito-bellussi syndrome'] +"""GARD:0000351""",dacryocystitis-osteopoikilosis syndrome,['gunal-seber-basaran syndrome'] +"""GARD:0000354""",osteopenia-intellectual disability-sparse hair syndrome,['kaler-garrity-stern syndrome'] +"""GARD:0000358""",w syndrome,['pallister-w syndrome'] +"""GARD:0000359""",cranioectodermal dysplasia,"['ced', 'sensenbrenner syndrome']" +"""GARD:0000360""",abruzzo-erickson syndrome,"['charge-like syndrome', 'cleft palate-coloboma-deafness syndrome', 'cleft palate-coloboma-hearing loss syndrome']" +"""GARD:0000361""",acalvaria,['primary acalvaria'] +"""GARD:0000363""",acatalasemia,['catalase deficiency'] +"""GARD:0000364""",isolated arrhinia,['isolated nose agenesis'] +"""GARD:0000365""",aromatase deficiency,['congenital estrogen deficiency'] +"""GARD:0000368""",laryngo-onycho-cutaneous syndrome,"['loc syndrome', 'logic syndrome', 'laryngeal and ocular granulation tissue in children from the indian subcontinent syndrome', 'shabbir syndrome']" +"""GARD:0000369""",xq21 microdeletion syndrome,"['ayazi syndrome', 'del(x)(q21)', 'monosomy xq21']" +"""GARD:0000370""",cholestasis-lymphedema syndrome,['aagenaes syndrome'] +"""GARD:0000371""",qazi-markouizos syndrome,['dysharmonic skeletal maturation-muscular fiber disproportion syndrome'] +"""GARD:0000372""",neurofibromatosis-noonan syndrome,"['nfns', 'neurofibromatosis type 1-noonan syndrome']" +"""GARD:0000373""",quinquaud folliculitis decalvans,[] +"""GARD:0000374""",pectus excavatum-macrocephaly-dysplastic nails syndrome,['zori-stalker-williams syndrome'] +"""GARD:0000375""",cleft lip/palate-ectodermal dysplasia syndrome,"['clped1', 'cleft lip/palate-syndactyly-pili torti syndrome', 'syndactyly-ectodermal dysplasia-cleft/lip palate', 'zlotogora-ogur syndrome']" +"""GARD:0000376""",acheiropodia,['acheiropody'] +"""GARD:0000377""","congenital absence/hypoplasia of fingers excluding thumb, unilateral","['adactyly of hand; unilateral', 'digits 2-5 hypodactyly; unilateral', 'digits 2-5 oligodactyly; unilateral']" +"""GARD:0000378""",johnson neuroectodermal syndrome,"['alopecia-anosmia-conductive hearing loss-hypogonadism syndrome', 'alopecia-anosmia-deafness-hypogonadism syndrome', 'johnson-mcmillin syndrome']" +"""GARD:0000379""",renal tubular dysgenesis,"['primitive renal tubule syndrome', 'renotubular dysgenesis']" +"""GARD:0000380""",knobloch syndrome,"['knobloch-layer syndrome', 'retinal detachment-occipital encephalocele syndrome']" +"""GARD:0000381""",arachnodactyly-abnormal ossification-intellectual disability syndrome,['kosztolanyi syndrome'] +"""GARD:0000383""",albers-schönberg osteopetrosis,['osteopetrosis autosomal dominant type 2'] +"""GARD:0000384""",adult syndrome,"['acro-dermato-ungual-lacrimal-tooth syndrome', 'pigment anomaly-ectrodactyly-hypodontia syndrome']" +"""GARD:0000385""",zimmermann-laband syndrome,"['gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome', 'laband syndrome']" +"""GARD:0000386""",tetraamelia-multiple malformations syndrome,['zimmer phocomelia'] +"""GARD:0000387""",combined immunodeficiency due to zap70 deficiency,['zeta-associated-protein 70 deficiency'] +"""GARD:0000390""","endosteal hyperostosis, worth type","['autosomal dominant osteosclerosis; worth type', 'worth syndrome']" +"""GARD:0000391""",osteomesopyknosis,['axial osteosclerosis'] +"""GARD:0000393""",tungiasis,[] +"""GARD:0000394""",radioulnar synostosis-microcephaly-scoliosis syndrome,"['giuffré-tsukahara syndrome', 'tsukahara syndrome']" +"""GARD:0000395""",retinal degeneration-nanophthalmos-glaucoma syndrome,['mackay-shek-carr syndrome'] +"""GARD:0000396""",tularemia,[] +"""GARD:0000399""","46,xx testicular disorder of sex development","['46;xx testicular dsd', 'de la chapelle syndrome', 'xx; male syndrome']" +"""GARD:0000400""",gapo syndrome,['growth delay-alopecia-pseudoanodontia-optic atrophy syndrome'] +"""GARD:0000402""","optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant",[] +"""GARD:0000404""",osteoporosis-oculocutaneous hypopigmentation syndrome,"['hernández-fragoso syndrome', 'oochs']" +"""GARD:0000405""",subaortic stenosis-short stature syndrome,['onat syndrome'] +"""GARD:0000406""",foveal hypoplasia-presenile cataract syndrome,"[""o'donnell-pappas syndrome""]" +"""GARD:0000407""",ermine phenotype,"[""o'doherty syndrome"", 'pigmentary disorder with deafness', 'pigmentary disorder with hearing loss']" +"""GARD:0000408""",short stature due to growth hormone qualitative anomaly,['kowarski syndrome'] +"""GARD:0000409""",pachygyria-intellectual disability-epilepsy syndrome,['kuzniecky syndrome'] +"""GARD:0000411""",sanjad-sakati syndrome,"['hrd syndrome', 'hypoparathyroidism-intellectual disability-dysmorphism syndrome', 'hypoparathyroidism-short stature-intellectual disability-seizures syndrome', 'richardson-kirk syndrome', 'sss']" +"""GARD:0000412""",cheilitis glandularis,[] +"""GARD:0000413""",geroderma osteodysplastica,[] +"""GARD:0000414""",bamforth-lazarus syndrome,"['athyroidal hypothyroidism-spiky hair-cleft palate syndrome', 'bamforth syndrome', 'hypothyroidism-cleft palate syndrome']" +"""GARD:0000415""",pseudoprogeria syndrome,"['absent eyebrows and eyelashes-intellectual disability syndrome', 'hal-berg-rudolph syndrome']" +"""GARD:0000418""",pentosuria,"['essential pentosuria', 'xylitol dehydrogenase deficiency']" +"""GARD:0000420""",mismatch repair cancer syndrome 1,"['childhood cancer syndrome', 'brain tumor-polyposis syndrome 1', 'mmr deficiency', 'turcot syndrome', 'btp1 syndrome', 'mismatch repair deficiency']" +"""GARD:0000424""",xk aprosencephaly syndrome,"['garcia-lurie syndrome', 'xk syndrome', 'xk-aprosencephaly']" +"""GARD:0000425""",tufted angioma,['nakagawa angioblastoma'] +"""GARD:0000427""",ptosis-vocal cord paralysis syndrome,['tucker syndrome'] +"""GARD:0000428""",craniofrontonasal dysplasia-poland anomaly syndrome,['webster-deming syndrome'] +"""GARD:0000429""",constriction rings syndrome,"['amniotic band sequence', 'amniotic band syndrome', 'congenital ring constrictions', 'constriction band syndrome', 'streeter dysplasia']" +"""GARD:0000431""",microtia,[] +"""GARD:0000433""",apparent mineralocorticoid excess,"['11-beta-hydroxysteroid dehydrogenase deficiency type 2', 'ulick syndrome']" +"""GARD:0000434""",hydrocephalus with stenosis of the aqueduct of sylvius,"['bickers-adams syndrome', 'hsas', 'x-linked hsas', 'x-linked acqueductal stenosis', 'x-linked hydrocephalus', 'x-linked hydrocephalus with stenosis of aqueduct of sylvius']" +"""GARD:0000435""",cleft lip-retinopathy syndrome,"['ausems-wittebol post-hennekam syndrome', 'cleft lip-cone rod dystrophy syndrome', 'cleft lip-progressive retinopathy syndrome']" +"""GARD:0000436""",adult-onset still disease,"['aosd', 'wissler-fanconi syndrome']" +"""GARD:0000438""",alpha-sarcoglycan-related limb-girdle muscular dystrophy r3,"['alpha-sarcoglycan-related lgmd r3', 'alpha-sarcoglycanopathy', 'autosomal recessive limb-girdle muscular dystrophy type 2d', 'lgmd due to alpha-sarcoglycan deficiency', 'lgmd type 2d', 'lgmd2d', 'limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency', 'limb-girdle muscular dystrophy type 2d']" +"""GARD:0000448""",vici syndrome,"['corpus callosum agenesis-cataract-immunodeficiency syndrome', 'dionisi-vici-sabetta-gambarara syndrome']" +"""GARD:0000453""",acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,[] +"""GARD:0000454""",accessory pancreas,[] +"""GARD:0000455""","achalasia, familial esophageal",[] +"""GARD:0000456""",achalasia-microcephaly syndrome,[] +"""GARD:0000457""",triple a syndrome,"['2a syndrome', '3a syndrome', '4a syndrome', 'aaa syndrome', 'achalasia-addisonianism-alacrima syndrome', 'adrenal insufficiency-achalasia-alacrima syndrome', 'allgrove syndrome', 'double a syndrome', 'quaternary a syndrome']" +"""GARD:0000458""","spondylometaphyseal dysplasia, a4 type",[] +"""GARD:0000459""",achondrogenesis type 1a,['achondrogenesis; houston-harris type'] +"""GARD:0000460""",achondrogenesis type 1b,['achondrogenesis; parenti-fraccaro type'] +"""GARD:0000465""",isovaleric acidemia,['isovaleric acid coa dehydrogenase deficiency'] +"""GARD:0000467""",propionic acidemia,"['ketotic hyperglycinemia', 'propionic aciduria', 'propionyl-coa carboxylase deficiency']" +"""GARD:0000469""",pyramidal molars-abnormal upper lip syndrome,['ackerman fused molar roots syndrome'] +"""GARD:0000475""",acquired prothrombin deficiency,['acquired hypoprothrombinemia'] +"""GARD:0000476""",acquired ichthyosis,[] +"""GARD:0000480""",acro-renal-mandibular syndrome,['split hand/split foot-mandibular hypoplasia syndrome'] +"""GARD:0000484""",acrofrontofacionasal dysostosis,['richieri-costa-colletto syndrome'] +"""GARD:0000491""",acrodysplasia scoliosis,"['brachydactyly-scoliosis-carpal fusion syndrome', 'prata-liberal-goncalves syndrome']" +"""GARD:0000494""","acrofacial dysostosis, catania type",['opitz-caltabiano syndrome'] +"""GARD:0000496""","acrofacial dysostosis, rodríguez type",[] +"""GARD:0000497""","acrofacial dysostosis, weyers type","['curry-hall syndrome', 'weyers acrodental dysostosis', 'weyers acrofacial dysostosis']" +"""GARD:0000498""",nager syndrome,"['mandibulofacial dysostosis with preaxial limb anomalies', 'nafd', 'nager acrofacial dysostosis', 'preaxial acrodysostosis']" +"""GARD:0000499""","acrofacial dysostosis, palagonia type",[] +"""GARD:0000504""","spondylometaphyseal dysplasia, schmidt type","['spondylometaphyseal dysplasia with severe genu valgum', 'spondylometaphyseal dysplasia; algerian type']" +"""GARD:0000506""","acromesomelic dysplasia, hunter-thompson type",['acromesomelic dwarfism'] +"""GARD:0000507""","acromesomelic dysplasia, maroteaux type",[] +"""GARD:0000508""",hajdu-cheney syndrome,"['acroosteolysis dominant type', 'acroosteolysis with osteoporosis and changes in skull and mandible', 'arthrodentoosteodysplasia', 'cheney syndrome']" +"""GARD:0000512""",acropectorovertebral dysplasia,['f syndrome'] +"""GARD:0000514""",acrorenal syndrome,[] +"""GARD:0000519""",idiopathic acute eosinophilic pneumonia,['iaep'] +"""GARD:0000521""",sweet syndrome,['acute febrile neutrophilic dermatosis'] +"""GARD:0000522""",acute lymphoblastic leukemia,"['all', 'acute lymphoblastic leukemia/lymphoma', 'acute lymphocytic leukemia', 'precursor lymphoid neoplasm']" +"""GARD:0000524""",acute megakaryoblastic leukemia,"['amkl', 'aml m7', 'acute megakaryocytic leukemia', 'acute myeloid leukemia m7']" +"""GARD:0000525""",acute monoblastic/monocytic leukemia,"['aml m5', 'acute monoblastic or monocytic leukemia']" +"""GARD:0000526""",acute myeloblastic leukemia without maturation,"['aml m1', 'acute myeloblastic leukemia m1']" +"""GARD:0000527""",acute myeloblastic leukemia with maturation,"['aml m2', 'acute myeloblastic leukemia m2']" +"""GARD:0000529""",acute myelomonocytic leukemia,"['aml m4', 'ammol']" +"""GARD:0000536""",acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),['aml with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)'] +"""GARD:0000538""",acute promyelocytic leukemia,"['aml m3', 'aml with t(15;17)(q22;q12);(pml/raralpha) and variants', 'apml', 'acute myeloblastic leukemia 3', 'acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants']" +"""GARD:0000540""",medium chain acyl-coa dehydrogenase deficiency,"['acadm deficiency', 'carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency', 'mcad deficiency', 'mcadd', 'medium chain acyl-coenzyme a dehydrogenase deficiency']" +"""GARD:0000546""",adenine phosphoribosyltransferase deficiency,"['2;8-dihydroxyadenine urolithiasis', 'aprt deficiency']" +"""GARD:0000547""",adenosine monophosphate deaminase deficiency,"['amp deaminase deficiency', 'myoadenylate deaminase deficiency']" +"""GARD:0000550""",adenylosuccinate lyase deficiency,"['adsl deficiency', 'adenylosuccinase deficiency']" +"""GARD:0000555""",x-linked adrenal hypoplasia congenita,"['x-linked ahc', 'x-linked congenital adrenal hypoplasia']" +"""GARD:0000558""",adrenocortical carcinoma,[] +"""GARD:0000559""",neonatal adrenoleukodystrophy,"['intermediate pbd-zsd', 'intermediate peroxisome biogenesis disorder-zellweger spectrum disorder', 'nald']" +"""GARD:0000562""",adrenomyodystrophy,[] +"""GARD:0000564""",proximal spinal muscular atrophy type 4,"['sma type 4', 'sma type iv', 'sma-iv', 'sma4', 'spinal muscular atrophy; adult form']" +"""GARD:0000575""",aicardi-goutières syndrome,"['encephalopathy with basal ganglia calcification', 'encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid']" +"""GARD:0000583""",short stature-webbed neck-heart disease syndrome,['al gazali-aziz-salem syndrome'] +"""GARD:0000584""",hirschsprung disease-nail hypoplasia-dysmorphism syndrome,['al gazali-donnai-muller syndrome'] +"""GARD:0000587""",osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,['al gazali-nair syndrome'] +"""GARD:0000588""",alar cartilages hypoplasia-coloboma-telecanthus syndrome,[] +"""GARD:0000589""",albinism-deafness syndrome,['albinism-hearing loss syndrome'] +"""GARD:0000592""",ocular albinism with late-onset sensorineural deafness,['ocular albinism with late-onset sensorineural hearing loss'] +"""GARD:0000594""",oculocutaneous albinism type 1b,"['oca1b', 'oculocutaneous albinism; amish type', 'platinum oculocutaneous albinism', 'yellow oculocutaneous albinism']" +"""GARD:0000599""",fetal alcohol syndrome,"['arbd', 'arnd', 'alcohol-related birth defects', 'alcohol-related neurodevelopmental disorder', 'fas', 'fasd', 'fetal alcohol spectrum disorders']" +"""GARD:0000600""",glycogen storage disease due to aldolase a deficiency,"['gsd due to aldolase a deficiency', 'gsd type 12', 'gsd type xii', 'glycogen storage disease type 12', 'glycogen storage disease type xii', 'glycogenosis due to aldolase a deficiency', 'glycogenosis type 12', 'glycogenosis type xii']" +"""GARD:0000602""",allergic bronchopulmonary aspergillosis,"['abpa', 'allergic aspergillosis', 'hinson-pepys disease']" +"""GARD:0000604""",autosomal dominant palmoplantar keratoderma and congenital alopecia,"['autosomal dominant palmoplantar hyperkeratosis and congenital alopecia', 'ppk-ca; stevanovic type', 'palmoplantar keratoderma and congenital alopecia; stevanovic type']" +"""GARD:0000605""",alopecia-contractures-dwarfism-intellectual disability syndrome,['acd-intellectual disability syndrome'] +"""GARD:0000606""",moynahan syndrome,['alopecia-epilepsy-intellectual disability syndrome; moynahan type'] +"""GARD:0000607""",alopecia-epilepsy-pyorrhea-intellectual disability syndrome,['shokeir syndrome'] +"""GARD:0000612""",alopecia-intellectual disability syndrome,['perniola-krajewska-carnevale syndrome'] +"""GARD:0000613""",alopecia totalis,[] +"""GARD:0000614""",alopecia universalis,[] +"""GARD:0000617""",oxoglutaric aciduria,['alpha-ketoglutarate dehydrogenase deficiency'] +"""GARD:0000621""",alpha-thalassemia,[] +"""GARD:0000624""",autosomal dominant alport syndrome,[] +"""GARD:0000625""",autosomal recessive alport syndrome,[] +"""GARD:0000634""",leber congenital amaurosis,['amaurosis congenita of leber'] +"""GARD:0000635""",leber congenital amaurosis 1,"['lca', 'retinal blindness; congenital', 'amaurosis congenita of leber i']" +"""GARD:0000636""",leber congenital amaurosis 2,['amaurosis congenita of leber ii'] +"""GARD:0000637""",amaurosis-hypertrichosis syndrome,[] +"""GARD:0000640""",congenital amegakaryocytic thrombocytopenia,['camt'] +"""GARD:0000645""",hypoplastic amelogenesis imperfecta,['amelogenesis imperfecta type 1'] +"""GARD:0000646""",enamel-renal syndrome,['amelogenesis imperfecta-nephrocalcinosis syndrome'] +"""GARD:0000647""",amelo-onycho-hypohidrotic syndrome,"['ameloonychohypohidrotic ectodermal dysplasia', 'ameloonychohypohidrotic syndrome']" +"""GARD:0000654""",beta-mercaptolactate cysteine disulfiduria,"['3-mercaptopyruvate sulfurtransferase deficiency', 'ampola syndrome', 'mcdu']" +"""GARD:0000664""",anaplastic thyroid carcinoma,[] +"""GARD:0000668""",x-linked sideroblastic anemia and spinocerebellar ataxia,"['pagon-bird-detter syndrome', 'x-linked sideroblastic anemia with ataxia', 'xlsa-a']" +"""GARD:0000670""",aneurysm of sinus of valsalva,[] +"""GARD:0000671""",angel-shaped phalango-epiphyseal dysplasia,['asped'] +"""GARD:0000676""",hereditary neurocutaneous malformation,[] +"""GARD:0000683""",angiostrongyliasis,[] +"""GARD:0000685""",aniridia-absent patella syndrome,[] +"""GARD:0000689""",aniridia-ptosis-intellectual disability-familial obesity syndrome,[] +"""GARD:0000690""",aniridia-renal agenesis-psychomotor retardation syndrome,['sommer-rathbun-battles syndrome'] +"""GARD:0000693""",anisakiasis,[] +"""GARD:0000696""",ankyloblepharon filiforme adnatum-cleft palate syndrome,[] +"""GARD:0000697""",ankyloblepharon filiforme adnatum-imperforate anus syndrome,['aughton-hufnagle syndrome'] +"""GARD:0000701""",dental ankylosis,['ankylosis of teeth'] +"""GARD:0000705""",annular pancreas,[] +"""GARD:0000710""",anonychia-onychodystrophy syndrome,[] +"""GARD:0000713""",matthew-wood syndrome,"['anophthalmia-pulmonary hypoplasia syndrome', 'pdac syndrome', 'pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome', 'spear syndrome']" +"""GARD:0000717""",anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome,['cassia stocco dos santos syndrome'] +"""GARD:0000719""",anophthalmia plus syndrome,"['fryns microphthalmia syndrome', 'microphthalmia with facial clefting']" +"""GARD:0000722""",microphthalmia with limb anomalies,"['anophthalmia-syndactyly syndrome', 'oas', 'ophthalmoacromelic syndrome', 'waardenburg anophthalmia syndrome']" +"""GARD:0000730""",anti-hla hyperimmunization,[] +"""GARD:0000731""",congenital alpha2-antiplasmin deficiency,[] +"""GARD:0000735""",antisynthetase syndrome,"['as syndrome', 'anti-jo1 syndrome']" +"""GARD:0000738""",congenital aortopulmonary window,"['congenital aortopulmonary artery fistula', 'congenital aortopulmonary septal defect']" +"""GARD:0000739""",aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,[] +"""GARD:0000740""",aortic arch interruption,[] +"""GARD:0000741""",aortic arch defects,[] +"""GARD:0000743""",supravalvular aortic stenosis,['svas'] +"""GARD:0000748""",aphalangy-syndactyly-microcephaly syndrome,[] +"""GARD:0000753""",aplasia cutis congenita-intestinal lymphangiectasia syndrome,['bronspiegel-zelnick syndrome'] +"""GARD:0000756""",aplasia cutis-myopia syndrome,['gershoni-baruch-leibo syndrome'] +"""GARD:0000759""",familial apolipoprotein c-ii deficiency,"['familial apoc2 deficiency', 'familial apoc-ii deficiency']" +"""GARD:0000764""",arachnodactyly-intellectual disability-dysmorphism syndrome,['de die-smulders-vles-fryns syndrome'] +"""GARD:0000770""",aromatic l-amino acid decarboxylase deficiency,['aadc deficiency'] +"""GARD:0000774""",arterial tortuosity syndrome,['ats'] +"""GARD:0000777""",arthrogryposis multiplex congenita,"['amc', 'multiple congenital arthrogryposis']" +"""GARD:0000784""",arthrogryposis-like hand anomaly-sensorineural deafness syndrome,"['arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome', 'distal arthrogryposis type 6']" +"""GARD:0000786""",distal arthrogryposis,[] +"""GARD:0000787""",distal arthrogryposis type 1,['da1'] +"""GARD:0000790""",neurogenic arthrogryposis multiplex congenita,[] +"""GARD:0000792""",arthrogryposis multiplex congenita-whistling face syndrome,['illum syndrome'] +"""GARD:0000794""",arthrogryposis-renal dysfunction-cholestasis syndrome,['arc syndrome'] +"""GARD:0000802""",atrioventricular septal defect,"['avsd', 'atrioventricular canal defect']" +"""GARD:0000804""",alagille syndrome,"['alagille-watson syndrome', 'arteriohepatic dysplasia', 'syndromic bile duct paucity']" +"""GARD:0000806""",spastic paraplegia-facial-cutaneous lesions syndrome,['bahemuka-brown syndrome'] +"""GARD:0000809""",balantidiasis,"['balantidiosis', 'ciliary dysentery']" +"""GARD:0000812""",bangstad syndrome,['ataxia-diabetes-goiter-gonadal insufficiency syndrome'] +"""GARD:0000813""",banki syndrome,[] +"""GARD:0000816""",orofaciodigital syndrome type 4,"['baraitser-burn syndrome', 'mohr-majewski syndrome', 'ofd4', 'oral-facial-digital syndrome type 4']" +"""GARD:0000819""",barber-say syndrome,['hypertrichosis-atrophic skin-ectropion-macrostomia syndrome'] +"""GARD:0000820""",bardet-biedl syndrome 1,[] +"""GARD:0000821""",bardet-biedl syndrome 2,[] +"""GARD:0000822""",bardet-biedl syndrome 3,[] +"""GARD:0000823""",bardet-biedl syndrome 4,[] +"""GARD:0000824""",immunodeficiency by defective expression of mhc class ii,"['bare lymphocyte syndrome type 2', 'mhc class ii deficiency']" +"""GARD:0000826""",frontometaphyseal dysplasia,[] +"""GARD:0000835""",congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,['bassoe syndrome'] +"""GARD:0000836""",epilepsy-microcephaly-skeletal dysplasia syndrome,['battaglia-neri syndrome'] +"""GARD:0000838""",bazex-dupré-christol syndrome,"['bdcs', 'follicular atrophoderma and basal cell carcinomas']" +"""GARD:0000842""",ankylosing vertebral hyperostosis with tylosis,[] +"""GARD:0000844""","myotonia congenita, autosomal recessive","['becker disease', 'myotonia; generalized']" +"""GARD:0000846""",beemer-ertbruggen syndrome,['lethal hydrocephalus-cardiac malformation-dense bones syndrome'] +"""GARD:0000848""",behçet disease,[] +"""GARD:0000853""",cloverleaf skull-asphyxiating thoracic dysplasia syndrome,['benallegue-lacete syndrome'] +"""GARD:0000856""","seizures, benign familial infantile, 1",[] +"""GARD:0000857""",benign familial infantile epilepsy,"['bfie', 'bfis', 'benign familial infantile convulsions', 'benign familial infantile seizures']" +"""GARD:0000860""",cryptorchidism-arachnodactyly-intellectual disability syndrome,['van benthem-driessen-hanveld syndrome'] +"""GARD:0000867""",chronic beryllium disease,"['berylliosis', 'chronic berylliosis', 'chronic beryllium lung disease']" +"""GARD:0000869""",beta-mannosidosis,['beta-mannosidase deficiency'] +"""GARD:0000871""",beta-thalassemia,[] +"""GARD:0000872""",beta-ketothiolase deficiency,"['3-ketothiolase deficiency', '3-oxothiolase deficiency', 'alpha methylacetoacetic aciduria', 'alpha-methyl-acetoacetyl-coa thiolase deficiency', 'mitochondrial acetoacetyl-coenzyme a thiolase deficiency', 't2 deficiency']" +"""GARD:0000873""",bethlem myopathy,['benign autosomal dominant myopathy'] +"""GARD:0000882""",biemond syndrome type 2,['hypogonadism-short stature-coloboma-preaxial polydactyly syndrome'] +"""GARD:0000884""",bifid nose,[] +"""GARD:0000893""",fallot complex-intellectual disability-growth delay syndrome,['bindewald-ulmer-müller syndrome'] +"""GARD:0000894""",biotinidase deficiency,"['juvenile-onset multiple carboxylase deficiency', 'late-onset multiple carboxylase deficiency']" +"""GARD:0000895""","microcephalic primordial dwarfism, montreal type",['bird-headed dwarfism; montreal type'] +"""GARD:0000897""",hypertelorism-microtia-facial clefting syndrome,"['bixler-christian-gorlin syndrome', 'hmc syndrome']" +"""GARD:0000905""",blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,['frydman-cohen-karmon syndrome'] +"""GARD:0000912""",blepharoptosis-myopia-ectopia lentis syndrome,[] +"""GARD:0000914""",blomstrand lethal chondrodysplasia,"['blc', 'bocd', 'blomstrand chondrodysplasia', 'blomstrand osteochondrodysplasia', 'chondrodysplasia; blomstrand type']" +"""GARD:0000915""",bloom syndrome,['bsyn'] +"""GARD:0000916""",blount disease,"['infantile tibia vara', 'osteochondrosis deformans tibiae', 'tibia vara blount']" +"""GARD:0000917""",blue cone monochromatism,"['atypical x-linked achromatopsia', 'blue cone monochromacy', 'color blindness; blue monocone monochromatic type', 's cone monochromacy', 's cone monochromatism', 'x-linked incomplete achromatopsia']" +"""GARD:0000918""",brachymorphism-onychodysplasia-dysphalangism syndrome,"['bod syndrome', 'senior syndrome']" +"""GARD:0000922""","bone dysplasia, lethal holmgren type",['autosomal recessive lethal chondrodysplasia; round femoral inferior epiphysis type'] +"""GARD:0000932""",böök syndrome,[] +"""GARD:0000933""",boomerang dysplasia,[] +"""GARD:0000936""",borjeson-forssman-lehmann syndrome,"['bfls', 'intellectual disability-epilepsy-endocrine disorders syndrome']" +"""GARD:0000938""",tricho-retino-dento-digital syndrome,"['bork syndrome', 'uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome']" +"""GARD:0000942""",diphyllobothriasis,['bothriocephalosis'] +"""GARD:0000943""",botulism,[] +"""GARD:0000944""",ataxia-hypogonadism-choroidal dystrophy syndrome,['boucher-neuhäuser syndrome'] +"""GARD:0000953""",congenital bowing of long bones,[] +"""GARD:0000955""",branchioskeletogenital syndrome,"['bsg syndrome', 'elsahy-waters syndrome']" +"""GARD:0000957""",specc1l-related hypertelorism syndrome,"['brachycephalofrontonasal dysplasia', 'teebi hypertelorism syndrome']" +"""GARD:0000958""",aymé-gripp syndrome,"['brachycephaly-deafness-cataract-intellectual disability syndrome', 'brachycephaly-hearing loss-cataract-intellectual disability syndrome', 'fine-lubinsky syndrome']" +"""GARD:0000960""","brachydactylous dwarfism, mseleni type",['mseleni joint disease'] +"""GARD:0000966""",brachydactyly-elbow wrist dysplasia syndrome,"['brachydactyly-joint dysplasia syndrome', 'liebenberg syndrome']" +"""GARD:0000967""",brachydactyly-arterial hypertension syndrome,"['bilginturan brachydactyly', 'bilginturan syndrome', 'brachydactyly type e; with short stature and hypertension']" +"""GARD:0000968""",brachydactyly-long thumb syndrome,['brachydactyly; long thumb type'] +"""GARD:0000971""",brachydactyly-nystagmus-cerebellar ataxia syndrome,['biemond syndrome'] +"""GARD:0000972""",brachydactyly-preaxial hallux varus syndrome,[] +"""GARD:0000978""",brachydactyly type a1,['brachydactyly; farabee type'] +"""GARD:0000979""",brachydactyly type a2,['brachydactyly; mohr-wriedt type'] +"""GARD:0000983""",brachydactyly type a6,['osebold-remondini syndrome'] +"""GARD:0000984""",brachydactyly type a7,['brachydactyly; smorgasbord type'] +"""GARD:0000985""",brachydactyly type b,[] +"""GARD:0000986""",brachydactyly type c,[] +"""GARD:0000987""",brachydactyly type e,[] +"""GARD:0000990""",brachydactyly type a4,"['brachydactyly; temtamy type', 'brachymesophalangy ii and v']" +"""GARD:0000992""",oculoosteocutaneous syndrome,[] +"""GARD:0000994""","spondyloepiphyseal dysplasia, maroteaux type",['pseudo-morquio syndrome type 2'] +"""GARD:0000995""","brachyolmia type 1, hobaek type","['brachyolmia; recessive type of hobaek', 'spondylodysplasia with pure brachyolmia']" +"""GARD:0000998""",craniosynostosis-dandy-walker malformation-hydrocephalus syndrome,['braddock-jones-superneau syndrome'] +"""GARD:0001002""",x-linked mandibulofacial dysostosis,"['mandibulofacial dysostosis; toriello type', 'x-linked branchial arch syndrome', 'x-linked mandibulofacial dysostosis with limb anomalies']" +"""GARD:0001017""",osteogenesis imperfecta,"['brittle bone disease', 'glass bone disease', 'lobstein disease', 'oi']" +"""GARD:0001019""",brittle cornea syndrome,[] +"""GARD:0001025""",bronchogenic cyst,[] +"""GARD:0001029""",bruck syndrome,['osteogenesis imperfecta-congenital joint contractures syndrome'] +"""GARD:0001030""",brugada syndrome,['idiopathic ventricular fibrillation; brugada type'] +"""GARD:0001033""",x-linked agammaglobulinemia,"['btk-deficiency', 'bruton type agammaglobulinemia']" +"""GARD:0001037""",primary basilar invagination,['bull-nixon syndrome'] +"""GARD:0001038""","hereditary bullous dystrophy, macular type",[] +"""GARD:0001039""",autosomal dominant epidermolytic ichthyosis,"['bcie', 'bullous congenital ichthyosiform erythroderma', 'bullous congenital ichthyosiform erythroderma of brock', 'bullous ichthyosis', 'ehk', 'ei', 'epidermolytic hyperkeratosis', 'ichthyosis hystrix brocq type']" +"""GARD:0001044""",buschke-ollendorff syndrome,['disseminated dermatofibrosis with osteopoikilosis'] +"""GARD:0001049""",cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,"['cadasil', 'hereditary multi-infarct dementia']" +"""GARD:0001051""",caffey disease,['infantile cortical hyperostosis'] +"""GARD:0001052""",cataract-hypertrichosis-intellectual disability syndrome,['cahmr syndrome'] +"""GARD:0001053""",limited cutaneous systemic sclerosis,['limited cutaneous systemic scleroderma'] +"""GARD:0001057""",calpain-3-related limb-girdle muscular dystrophy r1,"['autosomal recessive limb-girdle muscular dystrophy type 2a', 'calpain-3-related lgmd r1', 'lgmd type 2a', 'lgmd2a', 'limb-girdle muscular dystrophy due to calpain deficiency', 'limb-girdle muscular dystrophy type 2a', 'primary calpainopathy']" +"""GARD:0001058""",x-linked calvarial hyperostosis,[] +"""GARD:0001061""","campomelia, cumming type",[] +"""GARD:0001062""",camptobrachydactyly,[] +"""GARD:0001063""",idiopathic camptocormia,"['idiopathic camptocormism', 'idiopathic progressive lumbar kyphosis']" +"""GARD:0001064""",camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome,['goodman camptodactyly'] +"""GARD:0001067""","camptodactyly syndrome, guadalajara type 1",[] +"""GARD:0001068""","camptodactyly syndrome, guadalajara type 2",[] +"""GARD:0001069""",camptodactyly-taurinuria syndrome,['familial streblodactyly with amino-aciduria'] +"""GARD:0001071""","camptomelic syndrome, long-limb type",['campomelic syndrome; long-limb type'] +"""GARD:0001072""",camurati-engelmann disease,['progressive diaphyseal dysplasia'] +"""GARD:0001077""",chronic mucocutaneous candidiasis,['cmc'] +"""GARD:0001078""",hypogonadism-mitral valve prolapse-intellectual disability syndrome,['cantalamessa-baldini-ambrosi syndrome'] +"""GARD:0001084""",systemic capillary leak syndrome,"['capillary hyperpermeability syndrome', 'capillary leak syndrome', 'clarkson disease', 'idiopathic capillary leak syndrome', 'scls']" +"""GARD:0001093""","progressive familial heart block, type ia","['cardiac conduction defect; progressive', 'heart block; progressive familial; type i', 'pfhbia', 'hereditary bundle branch system defect', 'bundle branch block', 'lenegre-lev disease']" +"""GARD:0001094""",cardiac diverticulum,[] +"""GARD:0001096""",flna-related x-linked myxomatous valvular dysplasia,"['flna-related valvular dystrophy', 'filamin a-related x-linked myxomatous valvular dysplasia']" +"""GARD:0001100""",noonan syndrome with multiple lentigines,"['cardiomyopathic lentiginosis', 'familial multiple lentigines syndrome', 'leopard syndrome']" +"""GARD:0001102""",cardiomyopathy-cataract-hip spine disease syndrome,['krasnow-qazi syndrome'] +"""GARD:0001104""","cardiomyopathy, dilated, 1a","['cardiomyopathy; dilated; with conduction defect 1', 'cardiomyopathy; familial idiopathic', 'cardiomyopathy; idiopathic dilated', 'cardiomyopathy; congestive']" +"""GARD:0001118""",3mc syndrome,"['craniofacial-ulnar-renal syndrome', 'malpuech-michels-mingarelli-carnevale syndrome']" +"""GARD:0001119""",carney complex,"['carney syndrome', 'myxoma-spotty pigmentation-endocrine overactivity syndrome']" +"""GARD:0001120""",carnitine palmitoyl transferase 1a deficiency,"['cpt1a deficiency', 'carnitine palmitoyl transferase ia deficiency', 'hepatic carnitine palmitoyl transferase 1 deficiency', 'hepatic carnitine palmitoyl transferase i deficiency', 'l-cpt1 deficiency', 'l-cpti deficiency']" +"""GARD:0001121""",carnitine palmitoyltransferase ii deficiency,"['cpt2', 'cptii', 'carnitine palmitoyltransferase deficiency type 2']" +"""GARD:0001123""",carnitine-acylcarnitine translocase deficiency,['cact deficiency'] +"""GARD:0001128""",carpotarsal osteochondromatosis,['maroteaux-le merrer-bensahel syndrome'] +"""GARD:0001130""",idiopathic chronic eosinophilic pneumonia,['chronic eosinophilic pneumonia'] +"""GARD:0001133""","x-linked intellectual disability, stocco dos santos type",[] +"""GARD:0001139""",autosomal recessive palmoplantar keratoderma and congenital alopecia,"['autosomal recessive palmoplantar hyperkeratosis and congenital alopecia', 'cataract-alopecia-sclerodactyly syndrome', 'ppk-ca; wallis type', 'palmoplantar keratoderma and congenital alopecia; wallis type']" +"""GARD:0001140""",early-onset anterior polar cataract,['early-onset anterior subcapsular cataract'] +"""GARD:0001141""",cataract-ataxia-deafness syndrome,['cataract-ataxia-hearing loss syndrome'] +"""GARD:0001142""",congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,['sengers syndrome'] +"""GARD:0001144""","cataract 4, multiple types","['cataract 4; multiple types; with or without microcornea', 'cataract; punctate; progressive juvenile-onset', 'cataract; congenital; cerulean type; 3', 'cataract; nonnuclear polymorphic congenital', 'cataract; crystalline aculeiform']" +"""GARD:0001155""",cataract-microcornea syndrome,[] +"""GARD:0001159""",total early-onset cataract,[] +"""GARD:0001160""",cataract-glaucoma syndrome,[] +"""GARD:0001163""",caudal appendage-deafness syndrome,"['caudal appendage-hearing loss syndrome', 'lynch-lee-murday syndrome']" +"""GARD:0001164""",caudal duplication,"['dipygus', 'split notochord syndrome']" +"""GARD:0001167""",acrocardiofacial syndrome,"['acfs', 'ccge syndrome', 'cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome']" +"""GARD:0001188""",cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,"['capos syndrome', 'cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome']" +"""GARD:0001189""",cerebellar ataxia-ectodermal dysplasia syndrome,[] +"""GARD:0001191""",autosomal recessive progressive external ophthalmoplegia,['arpeo'] +"""GARD:0001195""",endosteal sclerosis-cerebellar hypoplasia syndrome,[] +"""GARD:0001196""",cerebellar hypoplasia-tapetoretinal degeneration syndrome,[] +"""GARD:0001199""",autosomal recessive cerebelloparenchymal disorder type 3,"['autosomal recessive spinocerebellar ataxia type 2', 'scar2']" +"""GARD:0001200""",hydrocephaly-cerebellar agenesis syndrome,[] +"""GARD:0001210""",cerebrofaciothoracic dysplasia,['pascual-castroviejo syndrome type 1'] +"""GARD:0001217""",retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,"['rvcl', 'rvcl-s', 'retinal vasculopathy and cerebral leukoencephalopathy']" +"""GARD:0001218""",cln10 disease,['cathepsin d deficiency'] +"""GARD:0001219""",cln1 disease,[] +"""GARD:0001220""",cln7 disease,[] +"""GARD:0001222""",cln4b disease,[] +"""GARD:0001223""",cln5 disease,[] +"""GARD:0001224""",cln6 disease,[] +"""GARD:0001226""",cervical hypertrichosis-peripheral neuropathy syndrome,[] +"""GARD:0001233""",chand syndrome,"['baughman syndrome', 'chands', 'curly hair-ankyloblepharon-nail dysplasia syndrome']" +"""GARD:0001234""",hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,['chang-davidson-carlson syndrome'] +"""GARD:0001235""",multifocal atrial tachycardia,"['chaotic atrial tachycardia', 'mat']" +"""GARD:0001237""",char syndrome,['patent ductus arteriosus with facial dysmorphism and abnormal fifth digits'] +"""GARD:0001240""",x-linked charcot-marie-tooth disease type 4,"['cmt4x', 'cmtx4', 'cowchock syndrome']" +"""GARD:0001243""",x-linked charcot-marie-tooth disease type 2,['cmtx2'] +"""GARD:0001244""",x-linked charcot-marie-tooth disease type 3,"['cmt3x', 'cmtx3']" +"""GARD:0001245""",charcot-marie-tooth disease type 1a,"['cmt1a', 'microduplication 17p12']" +"""GARD:0001246""",charcot-marie-tooth disease type 1b,['cmt1b'] +"""GARD:0001247""",charcot-marie-tooth disease type 1c,['cmt1c'] +"""GARD:0001248""",autosomal dominant charcot-marie-tooth disease type 2a1,['cmt2a1'] +"""GARD:0001249""",charcot-marie-tooth disease type 2b2,"['ar-cmt2b2', 'autosomal recessive axonal cmt4c3', 'autosomal recessive axonal charcot-marie-tooth disease type 2b2']" +"""GARD:0001250""",autosomal dominant charcot-marie-tooth disease type 2c,['cmt2c'] +"""GARD:0001251""",autosomal dominant charcot-marie-tooth disease type 2d,['cmt2d'] +"""GARD:0001252""",charcot-marie-tooth disease type 4a,['cmt4a'] +"""GARD:0001253""",charcot-marie-tooth disease type 4b1,['cmt4b1'] +"""GARD:0001258""",x-linked charcot-marie-tooth disease type 1,"['cmt1x', 'cmtx1']" +"""GARD:0001261""",charlie m syndrome,[] +"""GARD:0001274""",pierre robin syndrome-faciodigital anomaly syndrome,"['chitayat-meunier-hodgkinson syndrome', 'pierre robin sequence-faciodigital anomaly syndrome']" +"""GARD:0001280""",primary sclerosing cholangitis,['psc'] +"""GARD:0001288""",progressive familial intrahepatic cholestasis type 2,"['bsep deficiency', 'pfic2']" +"""GARD:0001289""",progressive familial intrahepatic cholestasis type 3,['pfic3'] +"""GARD:0001292""",familial calcium pyrophosphate deposition,"['calcium pyrophosphate dihydrate crystal deposition disease', 'familial cc', 'familial cppd', 'familial articular chondrocalcinosis', 'hereditary cc', 'hereditary articular chondrocalcinosis', 'hereditary calcium pyrophosphate deposition']" +"""GARD:0001296""",brachytelephalangic chondrodysplasia punctata,[] +"""GARD:0001300""","acromesomelic dysplasia, grebe type",['chondrodysplasia; grebe type'] +"""GARD:0001301""",ellis van creveld syndrome,"['chondroectodermal dysplasia', 'mesodermic dysplasia']" +"""GARD:0001303""",chordoma,['notochordal sarcoma'] +"""GARD:0001305""",benign hereditary chorea,"['bhc', 'benign familial chorea']" +"""GARD:0001313""",infantile choroidocerebral calcification syndrome,[] +"""GARD:0001319""",chromomycosis,['chromoblastomycosis'] +"""GARD:0001320""",ring chromosome 1 syndrome,"['ring 1', 'ring chromosome 1', 'r(1) syndrome']" +"""GARD:0001322""",ring chromosome 10 syndrome,"['ring 10', 'ring chromosome 10']" +"""GARD:0001323""",distal monosomy 10p,"['distal 10p deletion', 'monosomy 10pter', 'telomeric deletion 10p']" +"""GARD:0001325""",ring chromosome 12 syndrome,"['ring 12', 'ring chromosome 12']" +"""GARD:0001327""",mosaic trisomy 14,"['mosaic trisomy chromosome 14', 'trisomy 14 mosaicism']" +"""GARD:0001328""",ring chromosome 15 syndrome,"['ring 15', 'ring chromosome 15']" +"""GARD:0001333""",ring chromosome 19 syndrome,"['ring 19', 'ring chromosome 19']" +"""GARD:0001334""",ring chromosome 20 syndrome,"['ring 20', 'ring chromosome 20']" +"""GARD:0001336""",ring chromosome 22 syndrome,"['ring 22', 'ring chromosome 22', 'r(22) syndrome']" +"""GARD:0001339""",ring chromosome 4 syndrome,"['ring 4', 'ring chromosome 4', 'syndrome r(4)', 'r(4) syndrome']" +"""GARD:0001345""",ring chromosome 7 syndrome,"['ring 7', 'ring chromosome 7']" +"""GARD:0001347""",ring chromosome 8 syndrome,"['ring 8', 'ring chromosome 8', 'r(8) syndrome']" +"""GARD:0001348""",ring chromosome 9 syndrome,"['ring 9', 'ring chromosome 9']" +"""GARD:0001356""",cinca syndrome,"['chronic infantile neurological cutaneous and articular syndrome', 'iomid syndrome', 'infantile-onset multisystem inflammatory disease', 'nomid syndrome', 'neonatal-onset multisystem inflammatory disease', 'prieur-griscelli syndrome']" +"""GARD:0001358""",intellectual disability-myopathy-short stature-endocrine defect syndrome,['chudley-rozdilsky syndrome'] +"""GARD:0001359""",chylous ascites,[] +"""GARD:0001360""",ciliary discoordination due to random ciliary orientation,['rutland ciliary disorientation syndrome'] +"""GARD:0001361""",ciliary dyskinesia with transposition of ciliary microtubules,[] +"""GARD:0001369""",tibial aplasia-ectrodactyly syndrome,"['aplasia of tibia with split-hand/split-foot deformity', 'shfld syndrome', 'shfm associated with aplasia of long bones', 'split hand/foot malformation with long bone deficiency', 'split-hand/foot malformation associated with aplasia of long bones', 'th-shfm', 'tibial hemimelia with split hand/foot malformation', 'tibial hemimelia-ectrodactyly syndrome']" +"""GARD:0001391""",cleft palate-lateral synechia syndrome,['cpls syndrome'] +"""GARD:0001392""",cleft palate-short stature-vertebral anomalies syndrome,['mathieu-de broca-bony syndrome'] +"""GARD:0001393""",cleft palate-stapes fixation-oligodontia syndrome,[] +"""GARD:0001394""",x-linked cleft palate and ankyloglossia,[] +"""GARD:0001402""",thanatophoric dysplasia type 2,"['cloverleaf skull-micromelic bone dysplasia syndrome', 'td2', 'thanatophoric dwarfism type 2', 'thanatophoric dwarfism-cloverleaf skull syndrome']" +"""GARD:0001404""",micromelic bone dysplasia with cloverleaf skull,[] +"""GARD:0001410""",joubert syndrome with hepatic defect,"['coach syndrome', 'cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis', 'gentile syndrome', 'js-h', 'joubert syndrome with congenital hepatic fibrosis']" +"""GARD:0001413""",cocaine embryofetopathy,['fetal cocaine syndrome'] +"""GARD:0001415""",cockayne syndrome type 1,['cockayne syndrome type i'] +"""GARD:0001417""",cockayne syndrome type 3,['cockayne syndrome type iii'] +"""GARD:0001418""",codas syndrome,['cerebrooculodentoauriculoskeletal syndrome'] +"""GARD:0001420""",cockayne syndrome type 2,['cockayne syndrome type ii'] +"""GARD:0001421""",cogan syndrome,[] +"""GARD:0001425""",cole-carpenter syndrome,['bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome'] +"""GARD:0001428""",dislocation of the hip-dysmorphism syndrome,['collins-pope syndrome'] +"""GARD:0001433""",coloboma of eye lens,[] +"""GARD:0001434""",coloboma of iris,[] +"""GARD:0001436""",coloboma of macula,[] +"""GARD:0001437""",coloboma of macula-brachydactyly type b syndrome,['sorsby syndrome'] +"""GARD:0001438""",coloboma of optic disc,['coloboma of optic papilla'] +"""GARD:0001440""",uveal coloboma-cleft lip and palate-intellectual disability,[] +"""GARD:0001443""",anophthalmia/microphthalmia-esophageal atresia syndrome,"['mcops3', 'syndromic microphthalmia type 3']" +"""GARD:0001446""",colonic atresia,[] +"""GARD:0001452""",complement component 2 deficiency,['c2 deficiency'] +"""GARD:0001454""",complete atrioventricular septal defect,"['cavc', 'complete avsd', 'complete atrioventricular canal', 'complete atrioventricular canal defect', 'complete atrioventricular septal defect with atrial and ventricular components']" +"""GARD:0001460""",conductive deafness-malformed external ear syndrome,"['conductive hearing loss-malformed external ear syndrome', 'mengel-konigsmark syndrome']" +"""GARD:0001462""","cone-rod dystrophy, x-linked, 2",[] +"""GARD:0001463""",jalili syndrome,['cone rod dystrophy-amelogenesis imperfecta syndrome'] +"""GARD:0001465""",congenital lipoid adrenal hyperplasia due to star deficency,['clah'] +"""GARD:0001467""",congenital adrenal hyperplasia,['cah'] +"""GARD:0001469""",congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,"['cah due to 17-alpha-hydroxylase deficiency', 'combined 17-hydroxylase/17;20-lyase deficiency']" +"""GARD:0001470""","alopecia, congenital",[] +"""GARD:0001474""",autosomal dominant congenital benign spinal muscular atrophy,"['autosomal dominant benign distal spinal muscular atrophy', 'congenital benign spinal muscular atrophy with contractures', 'congenital nonprogressive spinal muscular atrophy']" +"""GARD:0001475""",congenital respiratory-biliary fistula,[] +"""GARD:0001480""",fetal cytomegalovirus syndrome,"['antenatal cmv infection', 'antenatal cytomegalovirus infection', 'mother-to-child transmission of cytomegalovirus syndrome']" +"""GARD:0001481""",congenital diaphragmatic hernia,['cdh'] +"""GARD:0001487""",congenital hypothyroidism,[] +"""GARD:0001489""",congenital ichthyosis-microcephalus-tetraplegia syndrome,['congenital ichthyosis-microcephalus-quadriplegia syndrome'] +"""GARD:0001493""",congenital mesoblastic nephroma,[] +"""GARD:0001495""",congenital mitral malformation,[] +"""GARD:0001496""",congenital mitral stenosis,[] +"""GARD:0001500""","congenital nephrotic syndrome, finnish type",['finnish congenital nephrosis'] +"""GARD:0001502""",short bowel syndrome,[] +"""GARD:0001503""",femoral agenesis/hypoplasia,"['congenital short femur', 'femoral intercalary meromelia']" +"""GARD:0001512""",hereditary continuous muscle fiber activity,[] +"""GARD:0001513""",continuous spikes and waves during sleep,"['csws', 'cswss syndrome', 'continuous spikes and waves during slow-wave sleep', 'epileptic encephalopathy with continuous spike-and-wave during slow sleep']" +"""GARD:0001515""",contractures-ectodermal dysplasia-cleft lip/palate syndrome,['ladda-zonana-ramer syndrome'] +"""GARD:0001516""",restrictive dermopathy,"['lethal hyperkeratosis-contracture syndrome', 'lethal restrictive dermopathy', 'lethal tight skin-contracture syndrome']" +"""GARD:0001518""",benign familial neonatal-infantile seizures,"['bfnis', 'benign neonatal-infantile epilepsy']" +"""GARD:0001519""",benign familial neonatal epilepsy,"['bfns', 'benign familial neonatal convulsions', 'benign familial neonatal seizures']" +"""GARD:0001521""",menkes disease,"['md', 'menkes kinky hair disease', 'menkes syndrome']" +"""GARD:0001522""",familial benign copper deficiency,['familial benign hypocupremia'] +"""GARD:0001525""",spinocerebellar degeneration-corneal dystrophy syndrome,['der kaloustian-jarudi-khoury syndrome'] +"""GARD:0001529""",corneal dystrophy-perceptive deafness syndrome,"['cdpd', 'corneal dystrophy with progressive deafness', 'corneal dystrophy with progressive hearing loss', 'corneal dystrophy-perceptive hearing loss syndrome', 'harboyan syndrome']" +"""GARD:0001531""",corneodermatoosseous syndrome,"['cdo syndrome', 'stern-lubinsky-durrie syndrome']" +"""GARD:0001533""",coronary arterial fistula,[] +"""GARD:0001534""",coronary artery congenital malformation,[] +"""GARD:0001537""",corpus callosum agenesis-neuronopathy syndrome,"['andermann syndrome', 'charlevoix disease']" +"""GARD:0001544""",congenitally corrected transposition of the great arteries,"['congenitally corrected transposition of the great vessels', 'discordant ventriculoarterial and atrioventricular connections', 'double discordance', 'l-transposition of the great arteries', 'levo-transposition of the great arteries', 'ventricular inversion', 'ventriculoarterial and atrioventricular discordance']" +"""GARD:0001548""",cortical blindness-intellectual disability-polydactyly syndrome,[] +"""GARD:0001550""",costello syndrome,"['fcs syndrome', 'faciocutaneoskeletal syndrome']" +"""GARD:0001551""",congenitally short costocoracoid ligament,[] +"""GARD:0001555""",pelviscapular dysplasia,"['cousin syndrome', 'familial pelvis-scapular dysplasia']" +"""GARD:0001558""",coxoauricular syndrome,[] +"""GARD:0001561""",crandall syndrome,"['alopecia-deafness-hypogonadism syndrome', 'alopecia-hearing loss-hypogonadism syndrome', 'alopecia-sensorineural deafness-hypogonadism syndrome', 'alopecia-sensorineural hearing loss-hypogonadism syndrome']" +"""GARD:0001564""",cranio-osteoarthropathy,"['currarino disease', 'currarino idiopathic osteoarthropathy', 'reginato-schiapachasse syndrome']" +"""GARD:0001567""",craniodiaphyseal dysplasia,[] +"""GARD:0001571""",craniofacial-deafness-hand syndrome,"['cdhs', 'craniofacial-hearing loss-hand syndrome', 'sommer-young-wee-frye syndrome']" +"""GARD:0001575""",non-syndromic bilambdoid and sagittal craniosynostosis,"['blss', 'bilateral lambdoid and sagittal synostosis', 'isolated sagittal and bilambdoid craniosynostosis', 'non-syndromic sagittal and bilateral lambdoid synostosis']" +"""GARD:0001578""",craniofrontonasal dysplasia,"['cfnd', 'cfns', 'craniofrontonasal syndrome']" +"""GARD:0001581""","craniometaphyseal dysplasia, autosomal dominant","['craniometaphyseal dysplasia; jackson type', 'cmd']" +"""GARD:0001582""","craniometaphyseal dysplasia, autosomal recessive",[] +"""GARD:0001583""",craniomicromelic syndrome,[] +"""GARD:0001601""","craniosynostosis, philadelphia type",[] +"""GARD:0001602""",baller-gerold syndrome,[] +"""GARD:0001605""",craniotelencephalic dysplasia,[] +"""GARD:0001608""",x-linked creatine transporter deficiency,"['creatine transporter deficiency', 'slc6a8 deficiency']" +"""GARD:0001609""",creeping myiasis,['migratory myiasis'] +"""GARD:0001611""",crisponi syndrome,[] +"""GARD:0001613""",familial exudative vitreoretinopathy,"['criswick-schepens syndrome', 'fevr']" +"""GARD:0001614""",cataract-nephropathy-encephalopathy syndrome,['crome syndrome'] +"""GARD:0001617""",crossed polysyndactyly,[] +"""GARD:0001620""",cryptogenic organizing pneumonia,"['boop', 'bronchiolitis obliterans organizing pneumonia', 'cop']" +"""GARD:0001626""",currarino syndrome,['currarino triad'] +"""GARD:0001629""",cutaneous larva migrans,[] +"""GARD:0001633""",cutaneous photosensitivity-lethal colitis syndrome,[] +"""GARD:0001638""",autosomal recessive cutis laxa type 2a,['arcl2a'] +"""GARD:0001639""",autosomal dominant cutis laxa,['adcl'] +"""GARD:0001641""",autosomal recessive cutis laxa type 2b,"['arcl2; progeroid type', 'arcl2b', 'autosomal recessive cutis laxa type 2; progeroid type']" +"""GARD:0001643""",primary cutis verticis gyrata,[] +"""GARD:0001646""",thyrocerebrorenal syndrome,['cutler-bass-romshe syndrome'] +"""GARD:0001654""",familial aortic dissection,"['annuloaortic ectasia', 'cystic medial necrosis of aorta']" +"""GARD:0001666""",hydrocephaly-tall stature-joint laxity syndrome,['daish-hardman-lamont syndrome'] +"""GARD:0001669""",dandy-walker malformation-postaxial polydactyly syndrome,"['dwm with postaxial polydactyly', 'pierquin syndrome']" +"""GARD:0001671""",multinodular goiter-cystic kidney-polydactyly syndrome,"['daneman-davy-mancer syndrome', 'thyroid-renal-digital anomalies']" +"""GARD:0001680""",symbrachydactyly of hands and feet,['de smet-fabry-fryns syndrome'] +"""GARD:0001684""",deafness-ear malformation-facial palsy syndrome,"['hearing loss-ear malformation-facial palsy syndrome', 'sellars-beighton syndrome']" +"""GARD:0001685""",doors syndrome,"['autosomal recessive deafness-onychodystrophy syndrome', 'autosomal recessive hearing loss-onychodystrophy syndrome', 'door syndrome', 'deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome', 'deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome', 'deafness-onychoosteodystrophy-intellectual disability syndrome', 'hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome', 'hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome', 'hearing loss-onychoosteodystrophy-intellectual disability syndrome']" +"""GARD:0001686""",deafness-craniofacial syndrome,['hearing loss-craniofacial syndrome'] +"""GARD:0001687""",deafness-enamel hypoplasia-nail defects syndrome,"['hearing loss-enamel hypoplasia-nail defects syndrome', 'heimler syndrome']" +"""GARD:0001688""",deafness-epiphyseal dysplasia-short stature syndrome,"['chitty-hall-baraitser syndrome', 'hearing loss-epiphyseal dysplasia-short stature syndrome']" +"""GARD:0001691""",deafness-hypogonadism syndrome,['hearing loss-hypogonadism syndrome'] +"""GARD:0001695""",lowe-kohn-cohen syndrome,"['deafness-nephritis-ano-rectal malformation syndrome', 'hearing loss-nephritis-ano-rectal malformation syndrome']" +"""GARD:0001696""",isolated growth hormone deficiency type ii,"['congenital ighd type ii', 'congenital isolated gh deficiency type ii', 'congenital isolated growth hormone deficiency type ii']" +"""GARD:0001697""","deafness, autosomal recessive 1a",[] +"""GARD:0001698""",deafness-oligodontia syndrome,['hearing loss-oligodontia syndrome'] +"""GARD:0001705""",deafness-vitiligo-achalasia syndrome,['hearing loss-vitiligo-achalasia syndrome'] +"""GARD:0001708""","deafness, autosomal dominant 23",[] +"""GARD:0001722""",erythrokeratoderma ''en cocardes'',['degos genodermatosis en cocardes'] +"""GARD:0001727""",delayed membranous cranial ossification,['gonzales-del angel syndrome'] +"""GARD:0001802""",demodicidosis,['demodicosis'] +"""GARD:0001804""",dent disease type 1,[] +"""GARD:0001806""",dentin dysplasia type ii,"['dd-ii', 'dtdp2']" +"""GARD:0001807""",dentin dysplasia type i,"['dd-i', 'dtdp1', 'radicular dentin dysplasia']" +"""GARD:0001808""",dentin dysplasia-sclerotic bones syndrome,[] +"""GARD:0001810""",radioulnar synostosis-developmental delay-hypotonia syndrome,['der kaloustian-mcintosh-silver syndrome'] +"""GARD:0001813""",dermatoleukodystrophy,['cutis laxa-leukodystrophy'] +"""GARD:0001814""","dermatoosteolysis, kirghizian type",[] +"""GARD:0001815""",dermochondrocorneal dystrophy,['françois syndrome'] +"""GARD:0001816""",dermoodontodysplasia,[] +"""GARD:0001818""",desbuquois syndrome,"['dbqd', 'desbuquois dysplasia']" +"""GARD:0001820""",desmoid tumor,"['aggressive fibromatosis', 'desmoid type fibromatosis']" +"""GARD:0001823""",familial developmental dysphasia,"['billard-toutain-maheut syndrome', 'foxp2-associated dysphasia']" +"""GARD:0001827""",dextrocardia,[] +"""GARD:0001839""",transient neonatal diabetes mellitus,['tndm'] +"""GARD:0001850""",immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome,"['autoimmune enteropathy type 1', 'ipex']" +"""GARD:0001851""",split cord malformation type i,"['scm type 1', 'scm type i', 'split cord malformation type 1']" +"""GARD:0001855""",dicarboxylic aminoaciduria,['glutamate-aspartate transport defect'] +"""GARD:0001859""",diethylstilbestrol syndrome,"['des embryofetopathy', 'des syndrome', 'diethylstilbestrol embryofetopathy', 'distilbene embryofetopathy']" +"""GARD:0001861""",diffuse neonatal hemangiomatosis,[] +"""GARD:0001862""",non-epidermolytic palmoplantar keratoderma,"['autosomal dominant diffuse palmoplantar keratoderma; norrbotten type', 'diffuse palmoplantar keratoderma; bothnian type', 'neppk']" +"""GARD:0001872""",diphallia,[] +"""GARD:0001874""",hemolytic anemia due to diphosphoglycerate mutase deficiency,[] +"""GARD:0001875""",diphtheria,[] +"""GARD:0001876""",diprosopus,"['craniofacial duplication', 'diprosopia']" +"""GARD:0001883""",dissecting cellulitis of the scalp,[] +"""GARD:0001886""","late-onset distal myopathy, markesbery-griggs type",['zasp-related myofibrillar myopathy'] +"""GARD:0001887""",vocal cord and pharyngeal distal myopathy,"['distal myopathy with vocal cord weakness', 'matr3-related distal myopathy', 'vcpdm']" +"""GARD:0001891""",distomatosis,"['distomiasis', 'fluke infection']" +"""GARD:0001894""",von voss-cherstvoy syndrome,"['dk phocomelia syndrome', 'phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome']" +"""GARD:0001896""",cleft palate,[] +"""GARD:0001898""",early-onset zonular cataract,[] +"""GARD:0001899""",donnai-barrow syndrome,"['dbs/foar syndrome', 'diaphragmatic hernia-exomphalos-hypertelorism syndrome', 'diaphragmatic hernia-hypertelorism-myopia-deafness syndrome', 'diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome', 'foar syndrome', 'facio-oculo-acoustico-renal syndrome', 'holmes-schepens syndrome', 'syndrome of ocular and facial anomalies; telecanthus and deafness', 'syndrome of ocular and facial anomalies; telecanthus and hearing loss']" +"""GARD:0001902""",autosomal recessive dopa-responsive dystonia,"['autosomal recessive segawa syndrome', 'dyt5b', 'tyrosine hydroxylase deficiency', 'tyrosine hydroxylase-deficient dopa-responsive dystonia']" +"""GARD:0001903""",dopamine beta-hydroxylase deficiency,['dbh deficiency'] +"""GARD:0001904""",subcortical band heterotopia,['subcortical laminar heterotopia'] +"""GARD:0001907""",double outlet left ventricle,['dolv'] +"""GARD:0001908""",double outlet right ventricle,['dorv'] +"""GARD:0001910""",double uterus-hemivagina-renal agenesis syndrome,"['double uterus and obstructed hemivagina syndrome', 'herlyn-werner syndrome', 'ohvira syndrome', 'obstructed hemivagina and ipsilateral renal anomaly', 'wunderlich syndrome']" +"""GARD:0001912""",familial drusen,"['dhrd', 'dominant drusen', 'dominant radial drusen', 'doyne honeycomb retinal dystrophy', 'malattia leventinese']" +"""GARD:0001917""",dermatitis herpetiformis,['duhring-brocq disease'] +"""GARD:0001975""",duplication of urethra,[] +"""GARD:0001993""",ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,['dykes-marks-harper syndrome'] +"""GARD:0001994""",dyschondrosteosis-nephritis syndrome,[] +"""GARD:0001996""",dyschromatosis universalis hereditaria,[] +"""GARD:0001998""",dysequilibrium syndrome,"['camrq syndrome', 'cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome', 'non-progressive cerebellar ataxia-intellectual disability syndrome', 'uts', 'uner tan syndrome']" +"""GARD:0001999""",congenital dyserythropoietic anemia,['cda'] +"""GARD:0002000""",congenital dyserythropoietic anemia type i,"['cda i', 'cda type 1', 'cda type i', 'congenital dyserythropoietic anemia type 1']" +"""GARD:0002001""",congenital dyserythropoietic anemia type ii,"['cda ii', 'cda type 2', 'cda type ii', 'congenital dyserythropoietic anemia type 2', 'hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)', 'sec23b-cdg']" +"""GARD:0002002""",congenital dyserythropoietic anemia type iii,"['cda iii', 'cda type 3', 'cda type iii', 'congenital dyserythropoietic anemia type 3']" +"""GARD:0002003""",qualitative or quantitative defects of dysferlin,['dysferlinopathy'] +"""GARD:0002004""",familial dysfibrinogenemia,[] +"""GARD:0002005""",extragonadal germinoma,[] +"""GARD:0002007""","dyskeratosis congenita, x-linked",['zinsser-cole-engman syndrome'] +"""GARD:0002009""",dysmorphism-cleft palate-loose skin syndrome,[] +"""GARD:0002012""",dysosteosclerosis,[] +"""GARD:0002013""","robinow syndrome, autosomal dominant 1","['acral dysostosis with facial and genital abnormalities', 'fetal face syndrome', 'robinow dwarfism']" +"""GARD:0002015""",peripheral dysostosis,[] +"""GARD:0002016""","dysostosis, stanescu type","['autosomal dominant osteosclerosis; stanescu type', 'craniofacial dysostosis-diaphyseal hyperplasia syndrome', 'stanescu osteosclerosis']" +"""GARD:0002019""",dysplasia epiphysealis hemimelica,['trevor disease'] +"""GARD:0002022""",dysplastic cortical hyperostosis,['kozlowski-tsuruta syndrome'] +"""GARD:0002026""","dyssegmental dysplasia, silverman-handmaker type",[] +"""GARD:0002027""",early-onset generalized limb-onset dystonia,"['dystonia musculorum deformans', 'eotd', 'early-onset generalized torsion dystonia', 'early-onset isolated dystonia', 'early-onset primary dystonia', 'early-onset torsion dystonia', 'idiopathic torsion dystonia', 'oppenheim dystonia']" +"""GARD:0002028""","primary dystonia, dyt2 type",['dyt2'] +"""GARD:0002031""",qualitative or quantitative defects of dystrophin,['dystrophinopathy'] +"""GARD:0002033""",ear-patella-short stature syndrome,['meier-gorlin syndrome'] +"""GARD:0002035""",ebola hemorrhagic fever,"['ehf', 'ebola fever', 'ebola virus disease']" +"""GARD:0002044""",leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,"['berlin syndrome', 'ectodermal dysplasia; berlin type']" +"""GARD:0002045""",ectodermal dysplasia-blindness syndrome,[] +"""GARD:0002048""",autosomal dominant hypohidrotic ectodermal dysplasia,"['ad-hed', 'autosomal dominant anhidrotic ectodermal dysplasia']" +"""GARD:0002049""",hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,"['another syndrome', 'hedh syndrome']" +"""GARD:0002055""","ectodermal dysplasia, trichoodontoonychial type",[] +"""GARD:0002056""",hidrotic ectodermal dysplasia,['clouston syndrome'] +"""GARD:0002057""",autosomal recessive hypohidrotic ectodermal dysplasia,"['ar-hed', 'autosomal recessive anhidrotic ectodermal dysplasia']" +"""GARD:0002060""","ectopia lentis 2, isolated, autosomal recessive",[] +"""GARD:0002068""",ectrodactyly-polydactyly syndrome,[] +"""GARD:0002071""",blepharo-cheilo-odontic syndrome,"['bcd syndrome', 'blepharocheilodontic syndrome', 'clefting-ectropion-conical teeth syndrome', 'ectropion inferior-cleft lip and/or palate syndrome', 'elschnig syndrome', 'lagophthalmia-cleft lip and palate syndrome']" +"""GARD:0002074""",edinburgh malformation syndrome,['typus edinburgensis'] +"""GARD:0002076""",eec syndrome,['ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome'] +"""GARD:0002078""",eem syndrome,['ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome'] +"""GARD:0002081""",hypermobile ehlers-danlos syndrome,"['eds iii', 'eds-ht', 'ehlers-danlos syndrome hypermobility type', 'ehlers-danlos syndrome type 3', 'hypermobile eds', 'heds']" +"""GARD:0002082""",vascular ehlers-danlos syndrome,"['arterial-ecchymotic eds', 'eds iv', 'ehlers-danlos syndrome type 4', 'sack-barabas syndrome', 'vascular eds', 'veds']" +"""GARD:0002083""",kyphoscoliotic ehlers-danlos syndrome,"['eds vi', 'ehlers-danlos syndrome type 6', 'kyphoscoliotic eds', 'keds']" +"""GARD:0002084""",arthrochalasia ehlers-danlos syndrome,"['arthrochalasia eds', 'arthrochalasis multiplex congenita', 'eds vii', 'ehlers-danlos syndrome type 7', 'ehlers-danlos syndrome; arthrochalasia type', 'aeds']" +"""GARD:0002088""",classical ehlers-danlos syndrome,"['classical eds', 'ceds']" +"""GARD:0002089""",dermatosparaxis ehlers-danlos syndrome,"['dermatosparaxis eds', 'ehlers-danlos syndrome type 7c', 'human dermatosparaxis eds viic', 'deds']" +"""GARD:0002092""",ehrlichiosis,[] +"""GARD:0002096""",acrocephalopolydactyly,"['acrocephalopolydactylous dysplasia', 'elejalde syndrome']" +"""GARD:0002098""",microcephaly-cardiac defect-lung malsegmentation syndrome,['ellis-yale-winter syndrome'] +"""GARD:0002102""",x-linked emery-dreifuss muscular dystrophy,[] +"""GARD:0002104""",congenital lobar emphysema,"['congenital lobar hyperinflation', 'infantile lobar hyperinflation']" +"""GARD:0002108""",encephalocraniocutaneous lipomatosis,['haberland syndrome'] +"""GARD:0002113""",bonnemann-meinecke-reich syndrome,['encephalopathy-intracerebral calcification-retinal degeneration syndrome'] +"""GARD:0002123""",eng-strom syndrome,['short stature-locking fingers syndrome'] +"""GARD:0002125""",glycogen storage disease due to muscle beta-enolase deficiency,"['gsd due to muscle beta-enolase deficiency', 'gsdxiii', 'glycogenosis due to muscle beta-enolase deficiency', 'glycogenosis type 13', 'muscle enolase deficiency', 'muscular enolase deficiency']" +"""GARD:0002130""",congenital enterovirus infection,"['antenatal enterovirus infection', 'mother-to-child transmission of enterovirus infection']" +"""GARD:0002137""",epidermolysis bullosa simplex with muscular dystrophy,"['ebs with muscular dystrophy', 'ebs-md', 'limb-girdle muscular dystrophy with epidermolysis bullosa simplex']" +"""GARD:0002139""",autosomal dominant generalized dystrophic epidermolysis bullosa,['generalized ddeb'] +"""GARD:0002141""","autosomal dominant generalized epidermolysis bullosa simplex, severe form","['autosomal dominant generalized ebs; severe form', 'epidermolysis bullosa simplex herpetiformis', 'epidermolysis bullosa simplex; dowling-meara type']" +"""GARD:0002143""",junctional epidermolysis bullosa inversa,"['jeb inversa', 'jeb-i']" +"""GARD:0002146""",localized epidermolysis bullosa simplex,"['ebs-loc', 'epidermolysis bullosa simplex of palms and soles', 'epidermolysis bullosa simplex; weber-cockayne type', 'localized ebs']" +"""GARD:0002147""","autosomal dominant generalized epidermolysis bullosa simplex, intermediate form","['autosomal dominant generalized ebs; intermediate form', 'epidermolysis bullosa simplex; koebner type', 'epidermolysis bullosa simplex; köbner type']" +"""GARD:0002148""",plec-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,['plec-related intermediate ebs without extracutaneous involvement'] +"""GARD:0002150""",dystrophic epidermolysis bullosa,"['deb', 'dermolytic epidermolysis bullosa', 'epidermolysis bullosa dystrophica']" +"""GARD:0002152""",junctional epidermolysis bullosa,"['epidermolysis bullosa atrophicans', 'jeb']" +"""GARD:0002153""",severe generalized junctional epidermolysis bullosa,"['epidermolysis bullosa letalis', 'jeb-h', 'junctional epidermolysis bullosa generalisata gravis', 'junctional epidermolysis bullosa; herlitz type', 'junctional epidermolysis bullosa; herlitz-pearson type', 'severe generalized jeb']" +"""GARD:0002155""","localized dystrophic epidermolysis bullosa, pretibial form","['deb-pt', 'localized deb; pretibial form']" +"""GARD:0002162""",juvenile absence epilepsy,['jae'] +"""GARD:0002166""",celiac disease-epilepsy-cerebral calcification syndrome,['cec'] +"""GARD:0002167""",progressive myoclonic epilepsy type 3,"['cln14 disease', 'epm3', 'pme type 3', 'progressive myoclonic epilepsy due to kctd7 deficiency', 'progressive myoclonus epilepsy type 3']" +"""GARD:0002168""",epilepsy-telangiectasia syndrome,[] +"""GARD:0002169""",myoclonic-astatic epilepsy,"['doose syndrome', 'emas', 'epilepsy with myoclonic-astatic seizures', 'epilepsy with myoclonic-atonic seizures', 'mae', 'myoclonic atonic epilepsy', 'myoclonic-astatic epilepsy in early childhood']" +"""GARD:0002170""",benign occipital epilepsy,[] +"""GARD:0002173""",familial partial epilepsy,[] +"""GARD:0002178""",epiphyseal dysplasia-hearing loss-dysmorphism syndrome,"['epiphyseal dysplasia-deafness-dysmorphism syndrome', 'finucane-kurtz-scott syndrome']" +"""GARD:0002180""",multiple epiphyseal dysplasia type 1,"['edm1', 'med1', 'polyepiphyseal dysplasia type 1']" +"""GARD:0002188""",erosive pustular dermatosis of the scalp,[] +"""GARD:0002191""",complement component 5 deficiency,['c5 deficiency'] +"""GARD:0002192""",congenital lethal erythroderma,[] +"""GARD:0002195""",thickened earlobes-conductive deafness syndrome,"['escher-hirt syndrome', 'thickened earlobes-conductive hearing loss syndrome']" +"""GARD:0002197""",esthesioneuroblastoma,['olfactory neuroblastoma'] +"""GARD:0002198""",ethylmalonic encephalopathy,[] +"""GARD:0002202""",exostoses-anetodermia-brachydactyly type e syndrome,[] +"""GARD:0002204""","exostoses, multiple, type i","['multiple cartilaginous exostoses', 'osteochondromatosis', 'diaphyseal aclasis', 'ext']" +"""GARD:0002205""","exostoses, multiple, type ii",[] +"""GARD:0002206""","exostoses, multiple, type iii",[] +"""GARD:0002207""",exstrophy-epispadias complex,"['beec', 'bladder exstrophy-epispadias-cloacal extrophy complex', 'eec']" +"""GARD:0002213""",extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,['char-douglas-dungan syndrome'] +"""GARD:0002216""",eyebrow duplication-syndactyly syndrome,[] +"""GARD:0002221""",facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,"['faces syndrome', 'friedman-goodman syndrome']" +"""GARD:0002222""",facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome,[] +"""GARD:0002229""",lethal faciocardiomelic dysplasia,[] +"""GARD:0002230""",faciocardiorenal syndrome,['eastman-bixler syndrome'] +"""GARD:0002237""",congenital factor v deficiency,"['owren disease', 'parahemophilia', 'proaccelerin deficiency']" +"""GARD:0002238""",congenital factor vii deficiency,"['congenital proconvertin deficiency', 'hypoproconvertinemia']" +"""GARD:0002245""",tetralogy of fallot,[] +"""GARD:0002249""",familial thoracic aortic aneurysm and aortic dissection,"['familial taad', 'familial non-syndromic thoracic aortic aneurysm and aortic dissection']" +"""GARD:0002250""",band heterotopia,[] +"""GARD:0002252""",non-acquired combined pituitary hormone deficiency,"['congenital combined pituitary hormone deficiency', 'congenital hypopituitarism']" +"""GARD:0002254""",familial nasal acilia,[] +"""GARD:0002256""",polydactyly of an index finger,"['ppd3', 'preaxial polydactyly type 3']" +"""GARD:0002257""",autosomal dominant epilepsy with auditory features,"['adeaf', 'adlte', 'adpeaf', 'autosomal dominant lateral temporal lobe epilepsy', 'partial epilepsy with auditory aura', 'partial epilepsy with auditory features']" +"""GARD:0002258""",familial porencephaly,[] +"""GARD:0002259""",familial supernumerary nipples,['isolated polythelia'] +"""GARD:0002268""",fanconi-bickel syndrome,"['gsd due to glut2 deficiency', 'glycogen storage disease due to glut2 deficiency', 'glycogenosis due to glut2 deficiency']" +"""GARD:0002276""",posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,['faulk-epstein-jones syndrome'] +"""GARD:0002279""",atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,"['atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome', 'feigenbaum-bergeron-richardson syndrome']" +"""GARD:0002285""",gollop-wolfgang complex,['bifid femur-monodactylous ectrodactyly syndrome'] +"""GARD:0002286""",femur-fibula-ulna complex,"['ffu complex', 'femur-fibula-ulna dysostosis', 'femur-fibula-ulna syndrome', 'pffd']" +"""GARD:0002287""",ataxia-photosensitivity-short stature syndrome,['fenton-wilkinson-toselano syndrome'] +"""GARD:0002293""","fetal akinesia syndrome, x-linked",[] +"""GARD:0002294""",aminopterin/methotrexate embryofetopathy,"['aminopterin embryopathy syndrome', 'fetal aminopterin syndrome']" +"""GARD:0002295""",fetal and neonatal alloimmune thrombocytopenia,"['fnait', 'nait']" +"""GARD:0002303""",indomethacin embryofetopathy,['fetal indomethacin syndrome'] +"""GARD:0002304""",fetal iodine syndrome,[] +"""GARD:0002305""",congenital left ventricular aneurysm,[] +"""GARD:0002308""",fetal minoxidil syndrome,['minoxidil antenatal infection'] +"""GARD:0002313""",thalidomide embryopathy,['fetal thalidomide syndrome'] +"""GARD:0002317""",fg syndrome type 1,['opitz-kaveggia syndrome'] +"""GARD:0002320""",congenital fibrinogen deficiency,[] +"""GARD:0002321""",fibrochondrogenesis,[] +"""GARD:0002322""",birt-hogg-dubé syndrome,"['fibrofolliculomas with trichodiscomas and acrochordons', 'hornstein-knickenberg syndrome']" +"""GARD:0002324""",gingival fibromatosis-hypertrichosis syndrome,"['cght', 'congenital generalized hypertrichosis terminalis', 'hirsutism-congenital gingival hyperplasia syndrome', 'hypertrichosis with or without gingival hyperplasia']" +"""GARD:0002327""",fibrosarcoma,[] +"""GARD:0002331""",fibular aplasia-ectrodactyly syndrome,[] +"""GARD:0002336""",absence of fingerprints-congenital milia syndrome,"['absence of dermatoglyphics-congenital milia syndrome', 'baird syndrome', 'basan-baird syndrome']" +"""GARD:0002339""",agel amyloidosis,"['familial amyloid polyneuropathy type iv', 'familial amyloidosis; finnish type', 'gelsolin amyloidosis', 'hereditary amyloidosis; finnish type']" +"""GARD:0002342""",spastic paraplegia-nephritis-deafness syndrome,"['fitzsimmons-walson-mellor syndrome', 'spastic paraplegia-nephritis-hearing loss syndrome']" +"""GARD:0002344""",paraplegia-intellectual disability-hyperkeratosis syndrome,['fitzsimmons-mclachlan-gilbert syndrome'] +"""GARD:0002346""",flotch syndrome,['leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome'] +"""GARD:0002347""",flynn-aird syndrome,[] +"""GARD:0002351""",foix-chavany-marie syndrome,"['bilateral anterior opercular syndrome', 'facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation', 'facio-pharyngo-glosso-masticatory diplegia']" +"""GARD:0002356""",follicular lymphoma,[] +"""GARD:0002362""",cardiospondylocarpofacial syndrome,"['forney syndrome', 'forney-robinson-pascoe syndrome', 'mitral regurgitation-deafness-skeletal anomalies syndrome', 'mitral regurgitation-hearing loss-skeletal anomalies syndrome']" +"""GARD:0002365""",fowler urethral sphincter dysfunction syndrome,"['fowler syndrome', 'fowler-christmas-chapple syndrome']" +"""GARD:0002375""",frasier syndrome,[] +"""GARD:0002378""",fraxe intellectual disability,['intellectual disability associated with fragile site fraxe'] +"""GARD:0002380""",osteochondrosis of the metatarsal bone,"['avascular necrosis of the metatarsal bone', 'freiberg disease', 'freiberg infraction']" +"""GARD:0002381""",odontotrichomelic syndrome,['freire-maia syndrome'] +"""GARD:0002384""",14q22q23 microdeletion syndrome,"['14q22-q23 microdeletion syndrome', 'del(14)(q22q23)', 'monosomy 14q22-q23', 'monosomy 14q22q23']" +"""GARD:0002390""",frontofacionasal dysplasia,['gollop syndrome'] +"""GARD:0002392""",frontonasal dysplasia,['median cleft face syndrome'] +"""GARD:0002397""",diaphragmatic defect-limb deficiency-skull defect syndrome,['froster-huch syndrome'] +"""GARD:0002400""","fructose-1,6-bisphosphatase deficiency","['fbpase deficiency', 'fructose-1;6-diphosphatase deficiency']" +"""GARD:0002408""",upper limb mesomelic dysplasia,"['fryns-hofkens-fabry syndrome', 'ulna hypoplasia']" +"""GARD:0002409""",fryns-smeets-thiry syndrome,[] +"""GARD:0002410""",fuhrmann syndrome,"['fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome', 'fuhrmann-rieger-de sousa syndrome']" +"""GARD:0002417""",muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,['furukawa-takagi-nakao syndrome'] +"""GARD:0002418""",furuncular myiasis,"['furunculoid myiasis', 'furunculous myiasis']" +"""GARD:0002419""",fused mandibular incisors,[] +"""GARD:0002422""",galactokinase deficiency,"['galk deficiency', 'galk-d', 'galactokinase deficiency galactosemia', 'galactosemia type 2']" +"""GARD:0002424""",galactosemia,[] +"""GARD:0002427""",growth delay-hydrocephaly-lung hypoplasia syndrome,['game-friedman-paradice syndrome'] +"""GARD:0002428""",cystathioninuria,"['cystathionase deficiency', 'cystathionine gamma-lyase deficiency syndrome', 'gamma-cystathionase deficiency']" +"""GARD:0002429""",gamma-sarcoglycan-related limb-girdle muscular dystrophy r5,"['autosomal recessive limb-girdle muscular dystrophy type 2c', 'gamma-sarcoglycan-related lgmd r5', 'gamma-sarcoglycanopathy', 'lgmd due to gamma-sarcoglycan deficiency', 'lgmd type 2c', 'lgmd2c', 'limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency', 'limb-girdle muscular dystrophy type 2c']" +"""GARD:0002430""",ganglioglioma,[] +"""GARD:0002431""",gm1 gangliosidosis type 3,['adult-onset gm1 gangliosidosis'] +"""GARD:0002432""",x-linked alport syndrome-diffuse leiomyomatosis,['xq22.3 microdeletion syndrome'] +"""GARD:0002436""",ménétrier disease,"['giant hypertrophic gastritis', 'hypoproteinemic hypertrophic gastropathy']" +"""GARD:0002437""",gastroenteropancreatic neuroendocrine neoplasm,['gep-nen'] +"""GARD:0002438""",gastrocutaneous syndrome,[] +"""GARD:0002441""",gaucher disease type 1,['non-cerebral juvenile gaucher disease'] +"""GARD:0002442""",gaucher disease type 2,"['acute neuronopathic gaucher disease', 'infantile cerebral gaucher disease']" +"""GARD:0002443""",gaucher disease type 3,"['cerebral juvenile and adult form of gaucher disease', 'chronic neuronopathic gaucher disease', 'gaucher disease; subacute neuronopathic type']" +"""GARD:0002449""",geleophysic dysplasia,['geleophysic dwarfism'] +"""GARD:0002451""",gemignani syndrome,"['spinocerebellar ataxia-amyotrophy-deafness syndrome', 'spinocerebellar ataxia-amyotrophy-hearing loss syndrome']" +"""GARD:0002452""",glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,['gemss syndrome'] +"""GARD:0002454""",holoprosencephaly-craniosynostosis syndrome,"['camero-lituania-cohen syndrome', 'genoa syndrome']" +"""GARD:0002456""","mycobacterium tuberculosis, susceptibility to",[] +"""GARD:0002460""",genitopalatocardiac syndrome,['gardner-silengo-wachtel syndrome'] +"""GARD:0002462""",german syndrome,['hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome'] +"""GARD:0002469""",large congenital melanocytic nevus,"['congenital pigmented nevus', 'gmn', 'giant congenital melanocytic nevus', 'giant pigmented hairy nevus', 'lcmn']" +"""GARD:0002470""",bernard-soulier syndrome,"['giant platelet syndrome', 'hemorrhagiparous thrombocytic dystrophy']" +"""GARD:0002474""","fibromatosis, gingival, 2",[] +"""GARD:0002475""","fibromatosis, gingival, 4",[] +"""GARD:0002478""",glanzmann thrombasthenia,[] +"""GARD:0002483""",glaucoma-sleep apnea syndrome,[] +"""GARD:0002485""",congenital glaucoma,"['buphthalmia', 'buphthalmos', 'buphthalmus', 'primary congenital glaucoma']" +"""GARD:0002486""",pediatric-onset glaucoma of genetic origin,['hereditary glaucoma'] +"""GARD:0002490""","glaucoma 3, primary infantile, b",[] +"""GARD:0002491""",glioblastoma,"['gbm', 'glioblastoma multiforme']" +"""GARD:0002492""",hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,"['telangiectatic membranoproliferative glomerulonephritis', 'glomerulonephritis with sparse hair and telangiectases']" +"""GARD:0002496""",glucagonoma,['glucagonoma syndrome'] +"""GARD:0002498""",familial glucocorticoid deficiency,[] +"""GARD:0002499""",generalized glucocorticoid resistance syndrome,[] +"""GARD:0002513""",glycogen storage disease due to hepatic glycogen synthase deficiency,"['gsd due to hepatic glycogen synthase deficiency', 'gsd type 0a', 'glycogen storage disease due to liver glycogen synthase deficiency', 'glycogen storage disease type 0a', 'glycogenosis type 0a']" +"""GARD:0002515""",glycogen storage disease due to glucose-6-phosphatase deficiency type ib,"['g6p deficiency type ib', 'g6p translocase deficiency', 'g6pt deficiency', 'gsd due to g6p deficiency type 1b', 'gsd due to g6p deficiency type ib', 'gsd due to g6pt deficiency', 'gsd type 1 non a', 'gsd type 1b', 'gsd type ib', 'gsdib', 'glycogen storage disease due to g6p deficiency type ib', 'glycogen storage disease type 1b', 'glycogen storage disease type ib', 'glycogenosis due to glucose-6-phosphatase deficiency type 1b', 'glycogenosis due to glucose-6-phosphatase transport defect type ib', 'glycogenosis type 1b', 'glycogenosis type ib']" +"""GARD:0002520""",glycogen storage disease due to glycogen branching enzyme deficiency,"['amylopectinosis', 'andersen disease', 'gsd due to glycogen branching enzyme deficiency', 'gsd type 4', 'gsd type iv', 'glycogen storage disease type 4', 'glycogen storage disease type iv', 'glycogenosis due to glycogen branching enzyme deficiency', 'glycogenosis type 4', 'glycogenosis type iv']" +"""GARD:0002521""",sandhoff disease,"['gm2 gangliosidosis 0 variant', 'hexosaminidases a and b deficiency']" +"""GARD:0002523""",gms syndrome,['goniodysgenesis-intellectual disability-short stature syndrome'] +"""GARD:0002541""",xy type gonadal dysgenesis-associated anomalies syndrome,[] +"""GARD:0002542""",perrault syndrome,"['xx gonodal dysgenesis-deafness syndrome', 'xx gonodal dysgenesis-hearing loss syndrome']" +"""GARD:0002546""",gonococcal conjunctivitis,[] +"""GARD:0002549""",goodman syndrome,"['acps4', 'acrocephalopolysyndactyly type 4']" +"""GARD:0002551""",anti-glomerular basement membrane disease,"['anti-gbm syndrome', 'goodpasture syndrome']" +"""GARD:0002553""",gordon syndrome,"['camptodactyly-cleft palate-clubfoot syndrome', 'distal arthrogryposis type 3', 'distal arthrogryposis type iia']" +"""GARD:0002557""",cystic hamartoma of lung and kidney,['graham-boyle-troxell syndrome'] +"""GARD:0002559""",grant syndrome,[] +"""GARD:0002562""",gray platelet syndrome,"['alpha storage pool deficiency', 'gps', 'platelet alpha-granule deficiency']" +"""GARD:0002566""",griscelli syndrome type 1,"['griscelli-pruniéras syndrome type 1', 'hypopigmentation-neurologic impairment syndrome']" +"""GARD:0002568""",deafness-small bowel diverticulosis-neuropathy syndrome,"['groll-hirschowitz syndrome', 'hearing loss-small bowel diverticulosis-neuropathy syndrome']" +"""GARD:0002572""",myhre syndrome,"['facial dysmorphism-intellectual disability-short stature-deafness syndrome', 'facial dysmorphism-intellectual disability-short stature-hearing loss syndrome']" +"""GARD:0002576""",grubben-de cock-borghgraef syndrome,['developmental delay-hypotonia-extremities hypertrophy syndrome'] +"""GARD:0002578""",guanidinoacetate methyltransferase deficiency,['gamt deficiency'] +"""GARD:0002579""","osteopetrosis, autosomal recessive 1","['marble bones; autosomal recessive', 'osteopetrosis; infantile malignant 1', 'albers-schonberg disease; autosomal recessive']" +"""GARD:0002580""",x-linked corneal dermoid,"['corneal dystrophy epithelial-short stature syndrome', 'guízar vázquez-luengas-muñoz syndrome']" +"""GARD:0002586""",hall-riggs syndrome,[] +"""GARD:0002589""",digital extensor muscle aplasia-polyneuropathy,"['congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy', 'hamanishi-ueba-tsuji syndrome', 'polyneuropathy-hand defect syndrome']" +"""GARD:0002593""",emery-nelson syndrome,['hand and foot deformity-flat facies syndrome'] +"""GARD:0002594""",hand-foot-genital syndrome,"['hfgs', 'hand-foot-uterus syndrome']" +"""GARD:0002597""",extensor tendons of finger anomalies,['hapnes-boman-skeie syndrome'] +"""GARD:0002598""",parana hard skin syndrome,['hard skin syndrome; parana type'] +"""GARD:0002599""",walker-warburg syndrome,"['hard syndrome', 'hydrocephalus-agyria-retinal dysplasia syndrome', 'wws']" +"""GARD:0002600""",early-onset cerebellar ataxia with retained tendon reflexes,"['eoca', 'eocarr', 'harding ataxia']" +"""GARD:0002601""",harrod syndrome,['cranio-facio-digito-genital syndrome'] +"""GARD:0002605""",short stature-craniofacial anomalies-genital hypoplasia syndrome,['haspeslagh-fryns-muelenaere syndrome'] +"""GARD:0002610""","progressive familial heart block, type ib",['pfhbib'] +"""GARD:0002613""",heart defects-limb shortening syndrome,[] +"""GARD:0002614""",heart-hand syndrome type 3,"['atriodigital dysplasia type 3', 'cardiomelic syndrome type 3', 'heart-hand syndrome; spanish type', 'heart-limb syndrome type 3']" +"""GARD:0002620""",hec syndrome,['hydrocephalus-endocardial fibroelastosis-cataract syndrome'] +"""GARD:0002621""",trismus-pseudocamptodactyly syndrome,"['distal arthrogryposis type 7', 'dutch-kentucky syndrome', 'hecht syndrome', 'hecht-beals syndrome']" +"""GARD:0002622""",fatco syndrome,"['fibular aplasia-tibial campomelia-oligosyndactyly syndrome', 'hecht-scott syndrome']" +"""GARD:0002627""","hemangiopericytoma, malignant",[] +"""GARD:0002630""",isolated hemihyperplasia,"['hemi 3 syndrome', 'hemicorporal hypertrophy', 'isolated hemihypertrophy']" +"""GARD:0002633""",bencze syndrome,['hemifacial hyperplasia-strabismus syndrome'] +"""GARD:0002637""",hemimegalencephaly,['unilateral megalencephaly'] +"""GARD:0002638""","migraine, familial hemiplegic, 1","['fhm', 'mhp1']" +"""GARD:0002640""",hemoglobin c disease,[] +"""GARD:0002641""",hemoglobin e disease,[] +"""GARD:0002642""",lethal hemolytic anemia-genital anomalies syndrome,['water-west syndrome'] +"""GARD:0002650""",heparin-induced thrombocytopenia,"['hat', 'hit', 'heparin-associated thrombocytopenia', 'heparin-induced thrombocytopenia type 2']" +"""GARD:0002651""",hepatic cystic hamartoma,"['biliary hamartoma', 'mhl', 'mesenchymal hamartoma of liver', 'vmc', 'von meyenburg complexes disease']" +"""GARD:0002657""",hepatoblastoma,[] +"""GARD:0002658""",tyrosinemia type 1,"['fah deficiency', 'fumarylacetoacetase deficiency', 'fumarylacetoacetate hydrolase deficiency', 'hepatorenal tyrosinemia', 'tyrosinemia type i']" +"""GARD:0002659""",hereditary methemoglobinemia,"['autosomal recessive methemoglobinemia', 'congenital methemoglobinemia']" +"""GARD:0002682""","hidrotic ectodermal dysplasia, christianson-fourie type",['christianson-fourie syndrome'] +"""GARD:0002684""",congenital high-molecular-weight kininogen deficiency,[] +"""GARD:0002690""","hip dysplasia, beukes type","['bfhd', 'beukes familial hip dysplasia', 'cilliers-beighton syndrome', 'premature degenerative osteoarthropathy of the hip']" +"""GARD:0002695""",hirschsprung disease-ganglioneuroblastoma syndrome,[] +"""GARD:0002700""",hirschsprung disease-type d brachydactyly syndrome,[] +"""GARD:0002706""",his bundle tachycardia,"['jet', 'junctional ectopic tachycardia']" +"""GARD:0002708""",histidinuria-renal tubular defect syndrome,[] +"""GARD:0002712""",3-hydroxy-3-methylglutaryl-coa synthase deficiency,['hmg-coa synthase deficiency'] +"""GARD:0002714""",hodgkin lymphoma,[] +"""GARD:0002721""",holocarboxylase synthetase deficiency,"['early-onset multiple carboxylase deficiency', 'neonatal multiple carboxylase deficiency']" +"""GARD:0002722""",holoprosencephaly-caudal dysgenesis syndrome,[] +"""GARD:0002725""",hartsfield syndrome,['holoprosencephaly-ectrodactyly-cleft lip/palate syndrome'] +"""GARD:0002727""",holoprosencephaly-radial heart renal anomalies syndrome,['steinfeld syndrome'] +"""GARD:0002728""",holzgreve syndrome,"['cleft palate-potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome', 'holzgreve-wagner-rehder syndrome']" +"""GARD:0002734""",homocystinuria due to methylene tetrahydrofolate reductase deficiency,"['mthfr deficiency', 'methylene tetrahydrofolate reductase deficiency']" +"""GARD:0002742""",atrioventricular defect-blepharophimosis-radial and anal defect syndrome,['houlston-ironton-temple syndrome'] +"""GARD:0002748""",humero-radial synostosis,['humero-radial fusion'] +"""GARD:0002749""",humero-radio-ulnar synostosis,['humero-radio-ulnar fusion'] +"""GARD:0002750""",humerus trochlea aplasia,[] +"""GARD:0002754""",hunter-mcalpine syndrome,[] +"""GARD:0002756""",trigonocephaly-broad thumbs syndrome,['hunter-rudd-hoffmann syndrome'] +"""GARD:0002764""",cystic echinococcosis,"['hydatid disease', 'hydatidosis']" +"""GARD:0002765""",x-linked intellectual disability-plagiocephaly syndrome,['hyde forster-mccarthy-berry syndrome'] +"""GARD:0002775""",hydrocephalus-obesity-hypogonadism syndrome,['sengers-hamel-otten syndrome'] +"""GARD:0002783""",hydrops fetalis,"['fetal anasarca', 'fetal hydrops', 'generalized fetal edema', 'hf']" +"""GARD:0002787""",hymenolepiasis,[] +"""GARD:0002788""",hyperimmunoglobulinemia d with periodic fever,"['hids', 'hyper-igd syndrome', 'hyperimmunoglobinemia d with recurrent fever', 'hyperimmunoglobulinemia d syndrome', 'partial mevalonate kinase deficiency']" +"""GARD:0002789""",familial hyperaldosteronism type ii,"['fh-ii', 'fh2', 'familial adrenal adenoma', 'familial hyperaldosteronism type 2']" +"""GARD:0002790""",familial hyperaldosteronism type i,"['dexamethasone-sensitive hypertension', 'fh-i', 'fh1', 'familial hyperaldosteronism type 1', 'gra', 'glucocorticoid-remediable aldosteronism', 'glucocorticoid-sensitive hypertension']" +"""GARD:0002791""",transient familial neonatal hyperbilirubinemia,['lucey-driscoll syndrome'] +"""GARD:0002793""",dubin-johnson syndrome,"['dubin-sprinz disease', 'hyperbilirubinemia type 2', 'sprinz-nelson syndrome']" +"""GARD:0002796""",familial hypocalciuric hypercalcemia type 1,['fhh type 1'] +"""GARD:0002804""",hypereosinophilic syndrome,['hes'] +"""GARD:0002806""",hereditary hyperferritinemia-cataract syndrome,"['bonneau-beaumont syndrome', 'hhcs', 'hereditary hyperferritinemia with congenital cataracts']" +"""GARD:0002807""",isolated glycerol kinase deficiency,['hyperglycerolemia'] +"""GARD:0002816""",combined immunodeficiency due to dock8 deficiency,"['cid due to dock8 deficiency', 'combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency', 'dock8 immunodeficiency syndrome']" +"""GARD:0002818""",hyperinsulinism due to glucokinase deficiency,['hyperinsulinemic hypoglycemia due to glucokinase deficiency'] +"""GARD:0002824""",hyperkeratosis lenticularis perstans,['flegel disease'] +"""GARD:0002826""",epidermolytic palmoplantar keratoderma,"['diffuse erythrodermic palmoplantar keratoderma; voerner type', 'diffuse erythrodermic palmoplantar keratoderma; vörner type', 'eppk', 'epidermolytic palmoplantar keratoderma of voerner', 'epidermolytic palmoplantar keratoderma of vörner']" +"""GARD:0002828""",hyperlysinemia,"['hyperlysinemia type i', 'lysine alpha-ketoglutarate reductase deficiency']" +"""GARD:0002830""",hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,"['hhh syndrome', 'ornt1 deficiency', 'ornithine carrier deficiency', 'ornithine translocase deficiency', 'triple h syndrome']" +"""GARD:0002831""",juvenile paget disease,"['familial osteoectasia', 'hereditary hyperphosphatasia', 'hyperostosis corticalis deformans juvenilis', 'jpg']" +"""GARD:0002833""",hyperostosis corticalis generalisata,"['hyperphosphatasemia tarda', 'van buchem disease']" +"""GARD:0002835""",primary hyperoxaluria type 1,"['glycolic aciduria', 'peroxisomal alanine-glyoxylate aminotransferase deficiency']" +"""GARD:0002836""",primary hyperoxaluria type 2,"['d-glycerate dehydrogenase deficiency', 'l-glyceric aciduria']" +"""GARD:0002837""",familial primary hyperparathyroidism,[] +"""GARD:0002838""",neonatal severe primary hyperparathyroidism,['nshpt'] +"""GARD:0002843""",pterin-4 alpha-carbinolamine dehydratase deficiency,"['hyperphenylalaninemia due to dehydratase deficiency', 'hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency', 'hyperphenylalaninemia with primapterinuria']" +"""GARD:0002844""",gtp cyclohydrolase i deficiency,"['gtpch deficiency', 'hyperphenylalaninemia due to gtp cyclohydrolase deficiency']" +"""GARD:0002847""",hyperprolinemia type 1,['proline oxidase deficiency'] +"""GARD:0002856""",maternal hyperthermia-induced birth defects,[] +"""GARD:0002858""",familial hyperthyroidism due to mutations in tsh receptor,"['familial non-immune hyperthyroidism', 'resistance to thyroid stimulating hormone']" +"""GARD:0002863""",x-linked congenital generalized hypertrichosis,"['congenital generalized hypertrichosis; macias-flores type', 'macias flores-garcia cruz-rivera syndrome']" +"""GARD:0002864""",acquired hypertrichosis lanuginosa,[] +"""GARD:0002865""",hypertrichosis lanuginosa congenita,['hypertrichosis universalis'] +"""GARD:0002871""",hypertryptophanemia,[] +"""GARD:0002872""",apolipoprotein a-i deficiency,"['apoa-i deficiency', 'familial apoa-i deficiency', 'familial hypoalphalipoproteinemia']" +"""GARD:0002876""","hypobetalipoproteinemia, familial, 1","['hypobetalipoproteinemia; normotriglyceridemic', 'acanthocytosis with hypobetalipoproteinemia', 'hypobetalipoproteinemia; familial']" +"""GARD:0002877""",autosomal dominant hypocalcemia,['ad hypocalcemia'] +"""GARD:0002878""",familial hypocalciuric hypercalcemia type 3,['fhh type 3'] +"""GARD:0002882""",achondrogenesis,[] +"""GARD:0002887""",familial hypofibrinogenemia,[] +"""GARD:0002897""",hypogonadotropic hypogonadism 7 with or without anosmia,"['hypogonadism; isolated hypogonadotropic', 'idiopathic hypogonadotropic hypogonadism']" +"""GARD:0002905""",familial isolated dilated cardiomyopathy,['familial or idiopathic dilated cardiomyopathy'] +"""GARD:0002906""",primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,"['fhhnc without severe ocular involvement', 'homg3', 'renal hypomagnesemia type 3']" +"""GARD:0002907""",hypomandibular faciocranial dysostosis,[] +"""GARD:0002908""",müllerian duct anomalies-limb anomalies syndrome,[] +"""GARD:0002910""",familial isolated hypoparathyroidism,[] +"""GARD:0002911""",hypoparathyroidism-sensorineural deafness-renal disease syndrome,"['barakat syndrome', 'hdr syndrome', 'hypoparathyroidism-sensorineural hearing loss-renal disease syndrome']" +"""GARD:0002914""","hypoparathyroidism, x-linked",[] +"""GARD:0002922""",hypoplastic right heart syndrome,[] +"""GARD:0002926""",congenital factor ii deficiency,"['dysprothrombinemia', 'hypoprothrombinemia', 'prothrombin deficiency']" +"""GARD:0002928""","hypospadias-intellectual disability, goldblatt type syndrome",['goldblatt-wallis syndrome'] +"""GARD:0002930""",schilbach-rott syndrome,"['brss', 'hypotelorism-cleft palate-hypospadias syndrome']" +"""GARD:0002943""",hypoxanthine-guanine phosphoribosyltransferase deficiency,"['hprt deficiency', 'hprt1 deficiency', 'hypoxanthine-guanine phosphoribosyltransferase 1 deficiency']" +"""GARD:0002945""",icf syndrome,['immunodeficiency-centromeric instability-facial anomalies syndrome'] +"""GARD:0002946""","keratitis-ichthyosis-deafness syndrome, autosomal recessive","['kid syndrome; autosomal recessive', 'desmons syndrome', 'ichthyosiform erythroderma; corneal involvement; and deafness']" +"""GARD:0002952""",ichthyosis follicularis-alopecia-photophobia syndrome,"['ifap syndrome', 'ichthyosis follicularis-atrichia-photophobia syndrome']" +"""GARD:0002954""",ichthyosis hystrix of curth-macklin,['ichthyosis hystrix; curth-macklin type'] +"""GARD:0002960""",ichthyosis-oral and digital anomalies syndrome,['clayton smith-donnai syndrome'] +"""GARD:0002966""",superficial epidermolytic ichthyosis,"['ichthyosis bullosa of siemens', 'sei']" +"""GARD:0002978""",anterior segment dysgenesis 3,"['iris hypoplasia with glaucoma', 'glaucoma iridogoniodysplasia; familial', 'iridogoniodysgenesis; type 1', 'iridogoniodysgenesis anomaly; autosomal dominant']" +"""GARD:0002981""",ciliary dyskinesia with defective radial spokes,['immotile cilia syndrome due to defective radial spokes'] +"""GARD:0002982""",ciliary dyskinesia with excessively long cilia,['immotile cilia syndrome due to excessively long cilia'] +"""GARD:0002984""","immune deficiency, familial variable",[] +"""GARD:0002988""",short-limb skeletal dysplasia with severe combined immunodeficiency,"['achondroplasia-scid syndrome', 'achondroplasia-swiss type agammaglobulinemia syndrome', 'achondroplasia-severe combined immunodeficiency syndrome', 'immunodeficiency-short limb dwarfism syndrome', 'short limb skeletal dysplasia with scid']" +"""GARD:0002989""",imperforate oropharynx-costovertebral anomalies syndrome,['seghers syndrome'] +"""GARD:0002995""",early-onset progressive encephalopathy with migrant continuous myoclonus,[] +"""GARD:0002998""",infantile myofibromatosis,[] +"""GARD:0003002""",infantile spasms-broad thumbs syndrome,['tsao-ellingson syndrome'] +"""GARD:0003006""",hereditary sensory and autonomic neuropathy type 4,"['cipa', 'congenital insensitivity to pain with anhidrosis', 'hsan4', 'hereditary sensory and autonomic neuropathy type iv']" +"""GARD:0003007""",mosaic variegated aneuploidy syndrome,['warburton-anyane-yeboa syndrome'] +"""GARD:0003008""",insulin-resistance syndrome type a,[] +"""GARD:0003009""",insulin-resistance syndrome type b,[] +"""GARD:0003010""",insulinoma,[] +"""GARD:0003012""",internal carotid absence,[] +"""GARD:0003013""",multiple intestinal atresia,['familial intestinal polyatresia syndrome'] +"""GARD:0003017""","intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked","['ciip; x-linked', 'congenital idiopathic intestinal pseudoobstruction', 'ipox', 'intestinal pseudoobstruction; neuronal; chronic idiopathic; with central nervous system involvement']" +"""GARD:0003020""",cerebral arteriovenous malformation,['intracranial arteriovenous malformation'] +"""GARD:0003024""",congenital intrinsic factor deficiency,"['congenital pernicious anemia', 'gastric intrinsic factor deficiency', 'hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency', 'ifd', 'intrinsic factor deficiency']" +"""GARD:0003026""",anterior segment dysgenesis 4,"['iridogoniodysgenesis; type 2', 'iris hypoplasia with early-onset glaucoma; autosomal dominant', 'iridogoniodysgenesis syndrome']" +"""GARD:0003030""",coxopodopatellar syndrome,"['ischiopatellar dysplasia', 'sps', 'scott-taor syndrome', 'small patella syndrome']" +"""GARD:0003033""",isosporiasis,['cystoisosporiasis'] +"""GARD:0003045""",cln2 disease,"['classic late infantile ncl', 'classic late infantile neuronal ceroid lipofuscinosis']" +"""GARD:0003047""","spondylometaphyseal dysplasia, kozlowski type",[] +"""GARD:0003048""",jervell and lange-nielsen syndrome,"['long qt interval-deafness syndrome', 'long qt interval-hearing loss syndrome']" +"""GARD:0003049""",jeune syndrome,"['asphyxiating thoracic dystrophy of the newborn', 'jatd', 'jeune asphyxiating thoracic dystrophy']" +"""GARD:0003051""",aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,['johnson-munson syndrome'] +"""GARD:0003053""","arthrogryposis-hyperkeratosis syndrome, lethal form",['johnston-aarons-schelley syndrome'] +"""GARD:0003054""",familial articular hypermobility syndrome,"['familial joint instability syndrome', 'familial joint laxity', 'joint instability syndrome']" +"""GARD:0003056""",gingival fibromatosis-progressive deafness syndrome,"['gingival fibromatosis-progressive hearing loss syndrome', 'jones syndrome']" +"""GARD:0003060""",juberg-hayward syndrome,"['cleft lip/palate-abnormal thumbs-microcephaly syndrome', 'orocraniodigital syndrome']" +"""GARD:0003062""",jung syndrome,[] +"""GARD:0003065""",juvenile polyposis syndrome,"['jip', 'jps', 'juvenile gastrointestinal polyposis', 'juvenile intestinal polyposis']" +"""GARD:0003066""",hypotrichosis with juvenile macular degeneration,"['hjmd', 'hypotrichosis with juvenile macular dystrophy']" +"""GARD:0003068""",juvenile temporal arteritis,"['jta', 'non-giant cell granulomatous temporal arteritis with eosinophilia']" +"""GARD:0003070""",hypogonadotropic hypogonadism 2 with or without anosmia,['kallmann syndrome 2'] +"""GARD:0003071""",hypogonadotropic hypogonadism 1 with or without anosmia,"['anosmic hypogonadism', 'dysplasia olfactogenitalis of de morsier', 'kms', 'hypogonadotropic hypogonadism and anosmia', 'kallmann syndrome 1']" +"""GARD:0003073""",hypogonadotropic hypogonadism 3 with or without anosmia,[] +"""GARD:0003074""","mesomelic dysplasia, kantaputra type","['kantaputra mesomelic dysplasia', 'mdk', 'mesomelic dysplasia; thai type']" +"""GARD:0003075""",acrocraniofacial dysostosis,['kaplan-plauchu-fitch syndrome'] +"""GARD:0003077""",kaposiform hemangioendothelioma,[] +"""GARD:0003078""",kapur-toriello syndrome,['cleft lip/palate-facial; eye; heart and intestinal anomalies syndrome'] +"""GARD:0003084""","oculocerebrofacial syndrome, kaufman type",[] +"""GARD:0003086""",pagod syndrome,['pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome'] +"""GARD:0003089""",autosomal dominant keratitis,['hereditary keratitis'] +"""GARD:0003090""",multiple self-healing squamous epithelioma,"['familial primary self-healing squamous epithelioma of the skin; ferguson-smith type', 'ferguson-smith disease', 'msse', 'multiple keratoacanthoma; ferguson-smith type', 'self-healing squamous epithelioma type 1']" +"""GARD:0003092""",keratoderma hereditarium mutilans,"['mutilating keratoderma of vohwinkel', 'mutilating keratoderma plus deafness', 'mutilating keratoderma plus hearing loss', 'ppk mutilans and deafness', 'ppk mutilans and hearing loss', 'vohwinkel syndrome']" +"""GARD:0003094""",palmoplantar keratoderma-deafness syndrome,"['ppk-deafness syndrome', 'palmoplantar hyperkeratosis-deafness syndrome', 'palmoplantar hyperkeratosis-hearing loss syndrome', 'palmoplantar keratoderma-hearing loss syndrome']" +"""GARD:0003095""",palmoplantar keratoderma-spastic paralysis syndrome,"['palmoplantar hyperkeratosis-spastic paralysis syndrome', 'powell-venencie-gordon syndrome']" +"""GARD:0003096""",transgrediens et progrediens palmoplantar keratoderma,"['greither disease', 'keratosis extremitatum hereditaria progrediens', 'keratosis palmoplantaris transgrediens et progrediens', 'progressive diffuse ppk', 'progressive diffuse palmoplantar keratoderma', 'transgrediens et progrediens ppk']" +"""GARD:0003098""",focal palmoplantar and gingival keratoderma,['focal palmoplantar and gingival hyperkeratosis'] +"""GARD:0003099""",keratosis follicularis-dwarfism-cerebral atrophy syndrome,[] +"""GARD:0003100""",papillon-lefèvre syndrome,"['keratosis palmoplantar-periodontopathy syndrome', 'pls']" +"""GARD:0003102""",palmoplantar keratoderma-esophageal carcinoma syndrome,"['bennion-patterson syndrome', 'howell-evans syndrome', 'keratosis palmoplantaris-esophageal carcinoma syndrome', 'palmoplantar hyperkeratosis-esophageal carcinoma syndrome', 'tylosis-oesophageal carcinoma syndrome']" +"""GARD:0003103""",punctate palmoplantar keratoderma type 1,"['buschke-fischer-brauer syndrome', 'keratodermia palmoplantaris papulosa; buschke-fischer-brauer type', 'ppkp1']" +"""GARD:0003105""",tyrosinemia type 2,"['keratosis palmoplantaris-corneal dystrophy syndrome', 'oculocutaneous tyrosinemia', 'richner-hanhart syndrome', 'tyrosinemia due to tat deficiency', 'tyrosinemia due to tyrosine aminotransferase deficiency', 'tyrosinemia type ii']" +"""GARD:0003109""",kerion celsi,[] +"""GARD:0003112""",anaplastic large cell lymphoma,"['alcl', 'cd30 positive anaplastic large cell lymphoma', 'ki-1 positive anaplastic large cell lymphoma', 'primary systemic alcl', 'sacl']" +"""GARD:0003113""",kid syndrome,"['ichthyosis hystrix rheydt type', 'kid/hid syndrome', 'keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome', 'keratitis-ichthyosis-hearing loss/hystrix-like ichthyosis-hearing loss syndrome', 'senter syndrome']" +"""GARD:0003117""",kleine-levin syndrome,[] +"""GARD:0003118""",hallux varus-preaxial polysyndactyly syndrome,['kleiner-holmes syndrome'] +"""GARD:0003122""",angioosteohypertrophic syndrome,['klippel-trénaunay-weber syndrome'] +"""GARD:0003124""",lethal kniest-like dysplasia,[] +"""GARD:0003125""",knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,"['bart-pumphrey syndrome', 'knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome', 'knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome', 'knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome']" +"""GARD:0003126""","familial partial lipodystrophy, dunnigan type","['dunnigan syndrome', 'fpld2', 'familial partial lipodystrophy type 2']" +"""GARD:0003128""",amelocerebrohypohidrotic syndrome,"['epilepsy-dementia-amelogenesis imperfecta syndrome', 'kohlschütter-tönz syndrome']" +"""GARD:0003129""",hereditary hyperekplexia,"['congenital stiff man syndrome', 'familial startle disease', 'hereditary hyperexplexia', 'kok disease', 'stiff baby syndrome']" +"""GARD:0003141""",intellectual disability-polydactyly-uncombable hair syndrome,['kozlowski-krajewska syndrome'] +"""GARD:0003150""",kuskokwim syndrome,"['arthrogryposis-like syndrome', 'kuskokwim disease']" +"""GARD:0003159""",glycogen storage disease due to lactate dehydrogenase deficiency,"['gsd due to lactate dehydrogenase deficiency', 'glycogenosis due to lactate dehydrogenase deficiency', 'ldh deficiency']" +"""GARD:0003160""",glycogen storage disease due to lactate dehydrogenase m-subunit deficiency,"['gsd due to lactate dehydrogenase m-subunit deficiency', 'glycogenosis due to lactate dehydrogenase m-subunit deficiency', 'ldh-m subunit deficiency', 'lactate dehydrogenase a deficiency']" +"""GARD:0003161""",glycogen storage disease due to lactate dehydrogenase h-subunit deficiency,"['gsd due to lactate dehydrogenase h-subunit deficiency', 'glycogenosis due to lactate dehydrogenase h-subunit deficiency', 'ldh-h subunit deficiency', 'lactate dehydrogenase b deficiency']" +"""GARD:0003163""",fatal infantile lactic acidosis with methylmalonic aciduria,[] +"""GARD:0003169""",lambert syndrome,['branchial dysplasia-intellectual disability-inguinal hernia syndrome'] +"""GARD:0003170""","ichthyosis, congenital, autosomal recessive 1","['lamellar exfoliation of newborn', 'collodion fetus', 'ichthyosis; congenital; autosomal recessive 1; with bathing suit distribution', 'ichthyosis congenita ii', 'collodion baby; self-healing', 'ichthyosis congenita', 'desquamation of newborn', 'ichthyosis; lamellar; 1; formerly']" +"""GARD:0003178""",diffuse large b-cell lymphoma,['dlbcl'] +"""GARD:0003181""",lethal larsen-like syndrome,[] +"""GARD:0003188""",laryngotracheoesophageal cleft,"['lc', 'ltec', 'laryngo-tracheo-esophageal cleft', 'laryngo-tracheo-esophageal diastema']" +"""GARD:0003191""",laryngocele,[] +"""GARD:0003194""",larynx atresia,[] +"""GARD:0003195""",graham little-piccardi-lassueur syndrome,"['graham little syndrome', 'piccardi-lassueur-little syndrome']" +"""GARD:0003196""",retinal cone dystrophy 1,[] +"""GARD:0003203""",early-onset parkinsonism-intellectual disability syndrome,"['laxova-opitz syndrome', 'waisman syndrome']" +"""GARD:0003212""",branchio-oculo-facial syndrome,['bofs'] +"""GARD:0003223""",lenz-majewski hyperostotic dwarfism,[] +"""GARD:0003224""",léri-weill dyschondrosteosis,['léri-weill syndrome'] +"""GARD:0003227""",lethal congenital contracture syndrome type 1,"['herva disease', 'lccs1', 'multiple contracture syndrome; finnish type']" +"""GARD:0003228""",maple syrup urine disease,"['bckd deficiency', 'bckdh deficiency', 'branched-chain 2-ketoacid dehydrogenase deficiency', 'branched-chain ketoaciduria', 'msud']" +"""GARD:0003230""",metachromatic leukodystrophy,"['arylsulfatase a deficiency', 'mld']" +"""GARD:0003231""",ravine syndrome,"['progressive encephalopathy with severe infantile anorexia', 'reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome']" +"""GARD:0003232""",leukoencephalopathy-palmoplantar keratoderma syndrome,[] +"""GARD:0003236""",ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,['levic-stefanovic-nikolic syndrome'] +"""GARD:0003242""",autosomal dominant popliteal pterygium syndrome,"['facio-genito-popliteal syndrome', 'popliteal web syndrome']" +"""GARD:0003244""",leydig cell hypoplasia,"['46;xy dsd due to lh resistance or lhb deficiency', '46;xy dsd due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency', '46;xy disorder of sex development due to lh resistance or lhb deficiency', '46;xy disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency']" +"""GARD:0003247""",lichen planopilaris,"['follicular lichen planus', 'lpp', 'lichen follicularis', 'lichen planus follicularis']" +"""GARD:0003248""",lichtenstein syndrome,[] +"""GARD:0003251""",limb body wall complex,"['body stalk anomaly', 'lbwc syndrome']" +"""GARD:0003252""",distal limb deficiencies-micrognathia syndrome,"['10q24 microduplication syndrome', 'buttiens-fryns syndrome']" +"""GARD:0003259""",linear verrucous nevus syndrome,['linear hamartoma syndrome'] +"""GARD:0003262""",neutral lipid storage disease,['lipidosis with triglyceride storage disease'] +"""GARD:0003263""",pyruvate dehydrogenase e3 deficiency,"['dld deficiency', 'dihydrolipoamide dehydrogenase deficiency', 'e3-deficient maple syrup urine disease']" +"""GARD:0003268""",lipoid proteinosis,"['hyalinosis cutis et mucosae', 'urbach-wiethe disease']" +"""GARD:0003277""",cobblestone lissencephaly,['lissencephaly type 2'] +"""GARD:0003283""",loiasis,[] +"""GARD:0003284""",romano-ward syndrome,['romano-ward long qt syndrome'] +"""GARD:0003285""",long qt syndrome 2,[] +"""GARD:0003286""",long qt syndrome 3,[] +"""GARD:0003287""",loose anagen syndrome,[] +"""GARD:0003295""",oculocerebrorenal syndrome of lowe,"['lowe disease', 'lowe oculo-cerebro-renal dystrophy', 'lowe oculo-cerebro-renal syndrome', 'lowe oculocerebrorenal dystrophy', 'lowe syndrome', 'ocrl', 'phosphatidylinositol 4;5-biphosphate 5-phosphatase deficiency']" +"""GARD:0003300""",lowry-maclean syndrome,[] +"""GARD:0003303""",cystic fibrosis-gastritis-megaloblastic anemia syndrome,['lubani-al saleh-teebi syndrome'] +"""GARD:0003307""",lujan-fryns syndrome,['x-linked intellectual disability with marfanoid habitus'] +"""GARD:0003314""",cerebellar ataxia-hypogonadism syndrome,"['gordon-holmes syndrome', 'luteinizing hormone-releasing hormone deficiency with ataxia']" +"""GARD:0003318""",hennekam syndrome,['lymphedema-lymphangiectasia-intellectual disability syndrome'] +"""GARD:0003319""",lymphangioleiomyomatosis,['lam'] +"""GARD:0003321""",lymphatic filariasis,[] +"""GARD:0003324""",meige disease,"['hereditary lymphedema type ii', 'meige lymphedema']" +"""GARD:0003328""",lymphatic malformation 1,"['lymphedema; hereditary; type i; formerly', 'nonne-milroy lymphedema', 'primary congenital lymphedema', 'lymphedema; hereditary; ia; formerly', 'lymphedema; early-onset']" +"""GARD:0003335""",lysinuric protein intolerance,"['hyperdibasic aminoaciduria', 'lpi']" +"""GARD:0003342""",macroglossia,[] +"""GARD:0003343""",beckwith-wiedemann syndrome,"['bws', 'exomphalos-macroglossia-gigantism syndrome', 'wiedemann-beckwith syndrome']" +"""GARD:0003347""",hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome,['westerhof-beemer-cormane syndrome'] +"""GARD:0003348""","blepharophimosis-intellectual disability syndrome, ohdo type","['bmrs; ohdo type', 'blepharophimosis syndrome; ohdo type', 'ohdo syndrome', 'ohdo-madokoro-sonoda syndrome']" +"""GARD:0003350""",autosomal dominant primary hypomagnesemia with hypocalciuria,"['homg2', 'isolated autosomal dominant hypomagnesemia', 'isolated renal magnesium wasting', 'renal hypomagnesemia type 2']" +"""GARD:0003361""",multiple pterygium-malignant hyperthermia syndrome,"['froster-iskenius-waterson-hall syndrome', 'malignant hyperthermia-arthrogryposis-torticollis syndrome']" +"""GARD:0003363""","malignant hyperthermia, susceptibility to, 1","['hyperthermia of anesthesia', 'hyperpyrexia; malignant', 'mhs']" +"""GARD:0003364""","malignant hyperthermia, susceptibility to, 2",[] +"""GARD:0003365""","malignant hyperthermia, susceptibility to, 3",[] +"""GARD:0003366""","malignant hyperthermia, susceptibility to, 4",[] +"""GARD:0003367""","malignant hyperthermia, susceptibility to, 5",[] +"""GARD:0003368""","malignant hyperthermia, susceptibility to, 6",[] +"""GARD:0003371""",malonic aciduria,['malonyl-coa decarboxylase deficiency'] +"""GARD:0003373""",dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,"['cardiogenital syndrome', 'malouf syndrome', 'najjar syndrome']" +"""GARD:0003374""",mandibuloacral dysplasia with type a lipodystrophy,[] +"""GARD:0003378""",lung agenesis-heart defect-thumb anomalies syndrome,['mardini-nyhan syndrome'] +"""GARD:0003382""",van den ende-gupta syndrome,"['marden-walker-like syndrome', 'vdegs']" +"""GARD:0003388""",marfanoid habitus-autosomal recessive intellectual disability syndrome,['fragoso-cantú syndrome'] +"""GARD:0003390""",marie unna hereditary hypotrichosis,"['hypotrichosis; marie unna type', 'muhh', 'marie unna congenital hypotrichosis']" +"""GARD:0003395""",oculotrichoanal syndrome,"['mota syndrome', 'manitoba oculotrichoanal syndrome', 'marles syndrome', 'marles-greenberg-persaud syndrome']" +"""GARD:0003396""",osteocraniostenosis,"['gracile bone dysplasia', 'osteocraniosplenic syndrome']" +"""GARD:0003399""",lethal recessive chondrodysplasia,['maroteaux-stanescu-cousin syndrome'] +"""GARD:0003401""","marfanoid syndrome, de silva type",[] +"""GARD:0003406""",cataract-intellectual disability-hypogonadism syndrome,['martsolf syndrome'] +"""GARD:0003409""",hennekam-beemer syndrome,"['mastocytosis-short stature-deafness syndrome', 'mastocytosis-short stature-hearing loss syndrome']" +"""GARD:0003413""",maternal phenylketonuria,"['hyperphenylalaninemic embryopathy', 'maternal pku', 'maternal hyperphenylalaninemia', 'phenylketonuric embryopathy']" +"""GARD:0003418""","maturity-onset diabetes of the young, type 1","['mody; type 1', 'mild juvenile diabetes mellitus']" +"""GARD:0003424""",mcdonough syndrome,[] +"""GARD:0003426""","familial scaphocephaly syndrome, mcgillivray type",['scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome'] +"""GARD:0003427""",mckusick-kaufman syndrome,"['hydrometrocolpos-postaxial polydactyly syndrome', 'kaufman-mckusick syndrome']" +"""GARD:0003430""",cleft lip/palate-intestinal malrotation-cardiopathy syndrome,['mcpherson-clemens syndrome'] +"""GARD:0003432""",meacham syndrome,"['meacham-winn-culler syndrome', 'rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome']" +"""GARD:0003436""",meckel syndrome,"['dysencephalia splanchnocystica', 'meckel-gruber syndrome']" +"""GARD:0003438""",dysraphism-cleft lip/palate-limb reduction defects syndrome,['medeira-dennis-donnai syndrome'] +"""GARD:0003439""",pai syndrome,['median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome'] +"""GARD:0003440""",median nodule of the upper lip,[] +"""GARD:0003442""",megacystis-microcolon-intestinal hypoperistalsis syndrome,"['berdon syndrome', 'mmihs', 'megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome']" +"""GARD:0003443""",familial visceral myopathy,"['familial hollow visceral myopathy', 'hereditary hollow visceral myopathy', 'megaduodenum and/or megacystis']" +"""GARD:0003445""",megalencephalic leukoencephalopathy with subcortical cysts,"['mlc', 'megalencephalic leukodystrophy', 'megalencephaly-cystic leukodystrophy syndrome', 'vacuolating megalencephalic leukoencephalopathy with subcortical cysts', 'van der knaap syndrome']" +"""GARD:0003448""",megalocornea-intellectual disability syndrome,"['mmr syndrome', 'neuhäuser syndrome']" +"""GARD:0003449""",delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,['mehes syndrome'] +"""GARD:0003451""",primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,"['fhhnc with severe ocular involvement', 'hypercalciuria-bilateral macular coloboma syndrome', 'meier-blumberg-imahorn syndrome']" +"""GARD:0003460""",familial melanoma,[] +"""GARD:0003462""",melhem-fahl syndrome,[] +"""GARD:0003475""",myelomeningocele,[] +"""GARD:0003480""",cerebrooculonasal syndrome,[] +"""GARD:0003482""",severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome,[] +"""GARD:0003485""","intellectual disability, buenos-aires type",['mutchinick syndrome'] +"""GARD:0003491""",hernández-aguirre negrete syndrome,['intellectual disability-epilepsy-bulbous nose syndrome'] +"""GARD:0003505""",severe intellectual disability-progressive spastic diplegia syndrome,['ctnnb1 syndrome'] +"""GARD:0003506""",x-linked intellectual disability-psychosis-macroorchidism syndrome,"['lindsay-burn syndrome', 'ppm-x']" +"""GARD:0003514""",intellectual disability-short stature-hypertelorism syndrome,['stoll-géraudel-chauvin syndrome'] +"""GARD:0003519""",metaphyseal acroscyphodysplasia,"['bellini syndrome', 'intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome']" +"""GARD:0003520""",x-linked skeletal dysplasia-intellectual disability syndrome,['christian syndrome'] +"""GARD:0003521""","intellectual disability-hypotonic facies syndrome, x-linked, 1","['xlmr-hypotonic facies syndrome', 'carpenter-waziri syndrome', 'smith-fineman-myers syndrome 1', 'sfms', 'holmes-gang syndrome', 'mental retardation-hypotonic facies syndrome; x-linked; 1', 'chudley-lowry syndrome']" +"""GARD:0003523""",intellectual disability-spasticity-ectrodactyly syndrome,['jancar syndrome'] +"""GARD:0003524""",mietens syndrome,['intellectual disability; mietens-weber type'] +"""GARD:0003530""","intellectual disability, wolff type",['wolff-zimmermann syndrome'] +"""GARD:0003531""",monoamine oxidase a deficiency,['brunner syndrome'] +"""GARD:0003537""",atkin-flaitz syndrome,['x-linked intellectual disability; atkin type'] +"""GARD:0003552""",mesomelic dwarfism-cleft palate-camptodactyly syndrome,"['mesomelic dysplasia; kozlowski-reardon type', 'mesomelic dysplasia; reardon type', 'reardon-hall-slaney syndrome']" +"""GARD:0003553""",langer mesomelic dysplasia,['mesomelic dwarfism; langer type'] +"""GARD:0003554""","mesomelic dysplasia, nievergelt type","['mesomelic dwarfism; nievergelt type', 'nievergelt syndrome']" +"""GARD:0003555""","mesomelic dwarfism, reinhardt-pfeiffer type","['reinhardt-pfeiffer mesomelic dysplasia', 'reinhardt-pfeiffer syndrome']" +"""GARD:0003559""",syndactyly type 8,['fusion of metacarpals 4 and 5'] +"""GARD:0003560""",metachondromatosis,[] +"""GARD:0003562""",metaphyseal anadysplasia,"['maroteaux-verloes-stanescu syndrome', 'regressive metaphyseal dysplasia']" +"""GARD:0003563""","metaphyseal chondrodysplasia, spahr type",[] +"""GARD:0003566""",metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,['metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome'] +"""GARD:0003568""",metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,[] +"""GARD:0003571""",metatropic dysplasia,['metatropic dwarfism'] +"""GARD:0003573""",methimazole embryofetopathy,"['mmi/cmz embryofetopathy', 'mmi/cmz embryopathy', 'methimazole/carbimazole embryofetopathy', 'methimazole/carbimazole embryopathy']" +"""GARD:0003575""",fetal methylmercury syndrome,"['methyl mercury antenatal infection', 'minamata disease']" +"""GARD:0003576""",methylcobalamin deficiency type cble,['functional methionine synthase deficiency type cble'] +"""GARD:0003577""",methylcobalamin deficiency type cblg,['functional methionine synthase deficiency type cblg'] +"""GARD:0003579""",methylmalonic acidemia with homocystinuria,"['combined defect in adenosylcobalamin and methylcobalamin synthesis', 'methylmalonic aciduria with homocystinuria']" +"""GARD:0003582""","methylmalonic acidemia with homocystinuria, type cbld","['cbld defect', 'cobalamin d defect', 'combined defect in adenosylcobalamin and methylcobalamin synthesis; type cbld', 'methylmalonic aciduria with homocystinuria; type cbld']" +"""GARD:0003584""",methylmalonic acidemia with homocystinuria type cblf,"['cblf defect', 'cobalamin f defect', 'combined defect in adenosylcobalamin and methylcobalamin synthesis; type cblf', 'lysosomal membrane cobalamin transporter deficiency', 'methylmalonic aciduria with homocystinuria; type cblf']" +"""GARD:0003586""",vitamin b12-unresponsive methylmalonic acidemia,"['methylmalonyl-coa mutase deficiency', 'methylmalonyl-coenzyme a mutase deficiency', 'vitamin b12-unresponsive methylmalonic aciduria']" +"""GARD:0003588""",mevalonic aciduria,"['complete mevalonate kinase deficiency', 'mva']" +"""GARD:0003589""",multiple benign circumferential skin creases on limbs,"['ccsf', 'circumferential skin creases; kunze type', 'congenital circumferential skin folds', 'kunze-riehm syndrome']" +"""GARD:0003596""",microbrachycephaly-ptosis-cleft lip syndrome,['richieri costa-guion almeida-ramos syndrome'] +"""GARD:0003602""","microcephalic primordial dwarfism, toriello type",[] +"""GARD:0003603""",isolated congenital microcephaly,[] +"""GARD:0003604""",microcephaly-albinism-digital anomalies syndrome,['castro gago-pombo-novo syndrome'] +"""GARD:0003605""",autosomal dominant primary microcephaly,[] +"""GARD:0003607""",microcephaly-brain defect-spasticity-hypernatremia syndrome,['franek-bocker-kahlen syndrome'] +"""GARD:0003609""",microcephaly-cardiomyopathy syndrome,['winship-viljoen-leary syndrome'] +"""GARD:0003610""",microcephaly-cervical spine fusion anomalies syndrome,[] +"""GARD:0003615""",microcephaly-glomerulonephritis-marfanoid habitus syndrome,[] +"""GARD:0003617""",mikati-najjar-sahli syndrome,['microcephaly-hypergonadotropic hypogonadism-short stature syndrome'] +"""GARD:0003622""",microcephaly-lymphedema-chorioretinopathy syndrome,['mlcrd'] +"""GARD:0003627""","microcephaly-microcornea syndrome, seemanova type",['seemanova-lesny syndrome'] +"""GARD:0003635""",congenital microcoria,['congenital miosis'] +"""GARD:0003637""",microcornea-glaucoma-absent frontal sinuses syndrome,[] +"""GARD:0003640""",microgastria-limb reduction defect syndrome,[] +"""GARD:0003643""",autosomal dominant omodysplasia,[] +"""GARD:0003644""",colobomatous microphthalmia,"['mac', 'microphthalmia with colobomatous cyst', 'microphthalmia-anophthalmia-coloboma syndrome']" +"""GARD:0003645""",microphthalmia with brain and digit anomalies,"['bakrania-ragge syndrome', 'mcops6', 'syndromic microphthalmia type 6']" +"""GARD:0003650""",microphthalmia-microtia-fetal akinesia syndrome,['thomas-jewett-raines syndrome'] +"""GARD:0003652""",microscopic polyangiitis,"['mpa', 'micropolyangiitis', 'microscopic polyarteritis']" +"""GARD:0003653""",oculoauriculovertebral spectrum with radial defects,"['hemifacial microsomia-radial defects syndrome', 'moeschler-clarren syndrome']" +"""GARD:0003655""",microsporidiosis,[] +"""GARD:0003659""",microphthalmia with linear skin defects syndrome,"['mcops7', 'midas syndrome', 'mls syndrome', 'microphthalmia-dermal aplasia-sclerocornea syndrome', 'syndromic microphthalmia type 7']" +"""GARD:0003668""",miller fisher syndrome,"['cranial variant of gbs', 'cranial variant of guillain-barré syndrome', 'fisher syndrome']" +"""GARD:0003669""",miller-dieker syndrome,"['lissencephaly due to 17p13.3 deletion', 'monosomy 17p13.3', 'telomeric deletion 17p']" +"""GARD:0003671""",mitochondrial dna-associated leigh syndrome,"['mils', 'maternally-inherited leigh disease', 'maternally-inherited infantile subacute necrotizing encephalopathy', 'mtdna-associated leigh syndrome']" +"""GARD:0003672""",non-spherocytic hemolytic anemia due to hexokinase deficiency,[] +"""GARD:0003681""","mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria","['booth-haworth-dilling syndrome', 'mitochondrial encephalomyopathy-aminoacidopathy syndrome', 'mtdna depletion syndrome; encephalomyopathic form with methylmalonic aciduria']" +"""GARD:0003682""",mitochondrial myopathy-lactic acidosis-deafness syndrome,['mitochondrial myopathy-lactic acidosis-hearing loss syndrome'] +"""GARD:0003684""",mitochondrial trifunctional protein deficiency,"['tfp deficiency', 'tfpd']" +"""GARD:0003685""",mitral atresia,[] +"""GARD:0003687""",familial mitral valve prolapse,[] +"""GARD:0003688""",mitral valve prolapse 1,[] +"""GARD:0003690""",melorheostosis with osteopoikilosis,"['msbd syndrome', 'mixed sclerosing bone dystrophy']" +"""GARD:0003692""",syndromic microphthalmia type 5,"['mcops5', 'syndromic microphthalmia/anophthalmia due to otx2 mutation']" +"""GARD:0003693""",mmep syndrome,"['mcops8', 'microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome', 'syndromic microphthalmia type 8', 'viljoen-smart syndrome']" +"""GARD:0003697""",mody,[] +"""GARD:0003698""",moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome,[] +"""GARD:0003699""",fryns syndrome,['diaphragmatic hernia-abnormal face-distal limb anomalies syndrome'] +"""GARD:0003701""",orofaciodigital syndrome type 2,"['mohr syndrome', 'ofd2', 'oral-facial-digital syndrome type 2']" +"""GARD:0003704""",choroidal atrophy-alopecia syndrome,"['moloney syndrome', 'regional choroidal atrophy and alopecia']" +"""GARD:0003705""",sulfite oxidase deficiency due to molybdenum cofactor deficiency,"['combined deficiency of sulfite oxidase; xanthine dehydrogenase and aldehyde oxidase', 'mocod']" +"""GARD:0003707""",tetramelic monodactyly,['sommer-hines syndrome'] +"""GARD:0003711""",distal monosomy 10q,"['distal deletion 10q', 'monosomy 10qter', 'telomeric deletion 10q']" +"""GARD:0003738""",1q41q42 microdeletion syndrome,"['del(1)(q41q42)', 'monosomy 1q41q42']" +"""GARD:0003746""",2q24 microdeletion syndrome,"['del(2)(q24)', 'monosomy 2q24']" +"""GARD:0003750""",distal monosomy 3p,"['3p- syndrome', 'distal 3p deletion', 'monosomy 3pter', 'telomeric monosomy 3p']" +"""GARD:0003764""",6q25 microdeletion syndrome,"['del(6)(q25)', 'monosomy 6q25']" +"""GARD:0003765""",familial monosomy 7 syndrome,[] +"""GARD:0003769""",8p23.1 microdeletion syndrome,"['del(8)(p23.1)', 'monosomy 8p23.1']" +"""GARD:0003773""",monosomy 9p,"['9p deletion syndrome', '9p- syndrome', 'alfi syndrome']" +"""GARD:0003785""",mucopolysaccharidosis type 4a,"['galns deficiency', 'galactosamine-6-sulfatase deficiency', 'mps4a', 'mpsiva', 'morquio disease type a', 'mucopolysaccharidosis type iva', 'n-acetylgalactosamine-6-sulfate sulfatase deficiency']" +"""GARD:0003786""",mucopolysaccharidosis type 4b,"['beta-d-galactosidase deficiency', 'mps4b', 'mpsivb', 'morquio disease type b', 'mucopolysaccharidosis type ivb']" +"""GARD:0003787""",vipoma,"['diarrheogenic islet cell tumor', 'pancreatic cholera', 'vip-secreting tumor', 'verner-morrison syndrome', 'wdha syndrome', 'watery diarrhea-hypokalemia-achlorhydria syndrome']" +"""GARD:0003788""",lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,['morse-rawnsley-sargent syndrome'] +"""GARD:0003791""",peripheral motor neuropathy-dysautonomia syndrome,['lisker-garcia-ramos syndrome'] +"""GARD:0003793""",mounier-kühn syndrome,"['congenital tracheobronchomegaly', 'idiopathic tracheobronchomegaly', 'tracheobronchomegaly']" +"""GARD:0003795""",spastic ataxia-corneal dystrophy syndrome,"['bedouin spastic ataxia syndrome', 'mousa-al din-al nassar syndrome', 'spastic ataxia-ocular anomalies syndrome']" +"""GARD:0003806""",mucolipidosis type iii,['pseudo-hurler polydystrophy'] +"""GARD:0003807""",mucopolysaccharidosis type 3,"['mps3', 'mpsiii', 'mucopolysaccharidosis type iii', 'sanfilippo disease']" +"""GARD:0003818""",multicentric carpo-tarsal osteolysis with or without nephropathy,['idiopathic multicentric osteolysis with or without nephropathy'] +"""GARD:0003824""",multiple carboxylase deficiency,['mcd'] +"""GARD:0003829""",multiple endocrine neoplasia type 1,"['men1', 'wermer syndrome']" +"""GARD:0003830""",multiple endocrine neoplasia type 2,['men2'] +"""GARD:0003834""",lethal multiple pterygium syndrome,"['autosomal recessive lethal multiple pterygium syndrome', 'lmps']" +"""GARD:0003836""",multiple synostoses syndrome,"['deafness-hermann type symphalangism syndrome', 'facio-audio-symphalangism', 'hearing loss-hermann type symphalangism syndrome', 'symphalangism-brachydactyly syndrome', 'wl syndrome']" +"""GARD:0003843""",laminin subunit alpha 2-related congenital muscular dystrophy,"['cmd1a', 'congenital muscular dystrophy due to laminin alpha2 deficiency', 'congenital muscular dystrophy type 1a', 'mdc1a', 'merosin-negative congenital muscular dystrophy']" +"""GARD:0003844""",trim32-related limb-girdle muscular dystrophy r8,"['autosomal recessive limb-girdle muscular dystrophy type 2h', 'lgmd due to trim32 deficiency', 'lgmd type 2h', 'lgmd2h', 'limb-girdle muscular dystrophy due to trim32 deficiency', 'limb-girdle muscular dystrophy type 2h', 'sarcotubular myopathy', 'trim32-related lgmd r8']" +"""GARD:0003851""",beta-sarcoglycan-related limb-girdle muscular dystrophy r4,"['autosomal recessive limb-girdle muscular dystrophy type 2e', 'beta-sarcoglycan-related lgmd r4', 'beta-sarcoglycanopathy', 'lgmd due to beta-sarcoglycan deficiency', 'lgmd type 2e', 'lgmd2e', 'limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency', 'limb-girdle muscular dystrophy type 2e']" +"""GARD:0003856""",becker nevus syndrome,['pigmentary hairy epidermal nevus'] +"""GARD:0003858""",glycogen storage disease due to muscle phosphorylase kinase deficiency,"['gsd due to muscle phosphorylase kinase deficiency', 'gsd type 9d', 'gsd type 9e', 'gsd type ixd', 'gsd type ixe', 'glycogen storage disease type 9d', 'glycogen storage disease type 9e', 'glycogen storage disease type ixd', 'glycogen storage disease type ixe', 'glycogenosis due to muscle phosphorylase kinase deficiency', 'glycogenosis type 9d', 'glycogenosis type 9e', 'glycogenosis type ixd', 'glycogenosis type ixe']" +"""GARD:0003862""",mycetoma,['madura foot'] +"""GARD:0003863""",classic mycosis fungoides,['mycosis fungoides; alibert-bazin type'] +"""GARD:0003865""",ataxia-pancytopenia syndrome,['myelocerebellar disorder'] +"""GARD:0003868""",myeloperoxidase deficiency,['mpo deficiency'] +"""GARD:0003872""",progressive myoclonic epilepsy type 6,"['epm6', 'gosr2-related progressive myoclonus ataxia', 'north sea progressive myoclonus epilepsy', 'pme type 6', 'progressive myoclonus epilepsy type 6']" +"""GARD:0003873""",myoclonus-cerebellar ataxia-deafness syndrome,['myoclonus-cerebellar ataxia-hearing loss syndrome'] +"""GARD:0003875""",spinal muscular atrophy-progressive myoclonic epilepsy syndrome,"['hereditary myoclonus-progressive distal muscular atrophy syndrome', 'jankovic-rivera syndrome', 'sma-pme']" +"""GARD:0003876""",progressive myoclonic epilepsy type 1,"['epm1', 'progressive myoclonus epilepsy type 1', 'uld', 'unverricht-lundborg disease']" +"""GARD:0003879""","myoglobinuria, recurrent",[] +"""GARD:0003881""",myopathy and diabetes mellitus,[] +"""GARD:0003884""",tubular aggregate myopathy,[] +"""GARD:0003885""",mitochondrial myopathy and sideroblastic anemia,"['mlasa', 'myopathy; lactic acidosis and sideroblastic anemia']" +"""GARD:0003889""",carey-fineman-ziter syndrome,['myopathy-moebius-robin syndrome'] +"""GARD:0003892""",x-linked myopathy with excessive autophagy,['xmea'] +"""GARD:0003896""",inclusion body myositis,"['ibm', 'sporadic inclusion body myositis', 'sibm']" +"""GARD:0003902""",n syndrome,[] +"""GARD:0003903""",alpha-n-acetylgalactosaminidase deficiency type 3,"['naga deficiency type 3', 'schindler disease type 3']" +"""GARD:0003904""",nijmegen breakage syndrome,"['at v1', 'ataxia-telangiectasia; variant 1', 'berlin breakage syndrome', 'immunodeficiency-microcephaly-chromosomal instability syndrome', 'microcephaly-immunodeficiency-lymphoid malignancy syndrome', 'nbs', 'seemanova syndrome type 2']" +"""GARD:0003908""",isolated complex i deficiency,"['isolated nadh-coq reductase deficiency', 'isolated nadh-coenzyme q reductase deficiency', 'isolated nadh-ubiquinone reductase deficiency', 'isolated mitochondrial respiratory chain complex i deficiency']" +"""GARD:0003909""",methemoglobin reductase deficiency,"['tpnh-methemoglobin reductase deficiency', 'nadph-dependent methemoglobin reductase deficiency']" +"""GARD:0003912""",naegeli-franceschetti-jadassohn syndrome,"['nfj syndrome', 'naegeli syndrome']" +"""GARD:0003916""",proteasome-associated autoinflammatory syndrome 1,"['chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome', 'autoinflammation; lipodystrophy; and dermatosis syndrome', 'jmp syndrome', 'nakajo-nishimura syndrome', 'joint contractures; muscular atrophy; microcytic anemia; and panniculitis-induced lipodystrophy']" +"""GARD:0003919""",isolated growth hormone deficiency type ib,"['congenital ighd type ib', 'congenital isolated gh deficiency type ib', 'congenital isolated growth hormone deficiency type ib']" +"""GARD:0003921""",isolated growth hormone deficiency type iii,"['congenital ighd type iii', 'congenital isolated gh deficiency type iii', 'congenital isolated growth hormone deficiency type iii', 'x-linked ighd', 'x-linked isolated growth hormone deficiency']" +"""GARD:0003924""",growth hormone insensitivity syndrome,"['ghis', 'short stature due to a defect in growth hormone receptor or post-receptor pathway']" +"""GARD:0003927""",nasopalpebral lipoma-coloboma syndrome,[] +"""GARD:0003928""",neuronal intestinal pseudoobstruction,[] +"""GARD:0003929""",nathalie syndrome,"['deafness-cataract-skeletal anomalies syndrome', 'sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome']" +"""GARD:0003931""",rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,"['juvenile polyarthritis without rheumatoid factor', 'juvenile rheumatoid factor-negative polyarthritis', 'rheumatoid factor-negative polyarticular jia']" +"""GARD:0003936""",perlman syndrome,['nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome'] +"""GARD:0003940""",nephropathy-deafness-hyperparathyroidism syndrome,"['edwards-patton-dilly syndrome', 'nephropathy-hearing loss-hyperparathyroidism syndrome']" +"""GARD:0003943""",nephrosis-deafness-urinary tract-digital malformations syndrome,"['braun-bayer syndrome', 'nephrosis-hearing loss-urinary tract-digital malformations syndrome']" +"""GARD:0003946""",genetic steroid-resistant nephrotic syndrome,"['familial idiopathic steroid-resistant nephrotic syndrome', 'genetic srns', 'hereditary steroid-resistant nephrotic syndrome']" +"""GARD:0003947""",congenital isolated hyperinsulinism,"['phhi', 'persistent hyperinsulinemic hypoglycemia of infancy']" +"""GARD:0003948""",tremor-nystagmus-duodenal ulcer syndrome,['neuhauser-daly-magnelli syndrome'] +"""GARD:0003949""",neuhauser-eichner-opitz syndrome,['recurrent encephalophathy of childhood'] +"""GARD:0003953""",galactosialidosis,"['goldberg syndrome', 'neuraminidase deficiency with beta-galactosidase deficiency']" +"""GARD:0003955""","amyotrophy, hereditary neuralgic","['brachial plexus neuropathy; hereditary', 'neuritis with brachial predilection', 'amyotrophy; hereditary neuralgic; with predilection for brachial plexus']" +"""GARD:0003956""",choreoacanthocytosis,"['chac', 'chorea-acanthocytosis', 'levine-critchley syndrome']" +"""GARD:0003957""",infantile neuroaxonal dystrophy,"['inad', 'inad1', 'plan', 'phospholipase a2-associated neurodegeneration', 'seitelberger disease']" +"""GARD:0003964""",neurofaciodigitorenal syndrome,['freire maia-pinheiro-opitz syndrome'] +"""GARD:0003967""",neurofibromatosis type 6,"['familial café-au-lait spots', 'multiple café-au-lait spots', 'multiple café-au-lait syndrome', 'nf6']" +"""GARD:0003971""",neuronal intranuclear inclusion disease,[] +"""GARD:0003972""",navajo neurohepatopathy,['navajo neuropathy'] +"""GARD:0003973""",charcot-marie-tooth disease type 4d,"['cmt4d', 'hmsn; lom type', 'hmsn-lom', 'hereditary motor and sensory neuropathy; lom type']" +"""GARD:0003976""",hereditary sensory and autonomic neuropathy type 2,"['autosomal recessive sensory radicular neuropathy', 'hsan2', 'hereditary sensory and autonomic neuropathy type ii', 'neurogenic acroosteolysis']" +"""GARD:0003979""",neutral lipid storage disease with ichthyosis,"['dorfman-chanarin disease', 'nlsdi']" +"""GARD:0003981""",x-linked severe congenital neutropenia,[] +"""GARD:0003982""",neutropenia-monocytopenia-deafness syndrome,['neutropenia-monocytopenia-hearing loss syndrome'] +"""GARD:0003986""",familial multiple nevi flammei,['familial multiple port-wine stains'] +"""GARD:0003994""",night blindness-skeletal anomalies-dysmorphism syndrome,['hunter-thompson-reed syndrome'] +"""GARD:0003995""",congenital stationary night blindness,['congenital essential nyctalopia'] +"""GARD:0003999""",ectopia lentis-chorioretinal dystrophy-myopia syndrome,['noble-bass-sherman syndrome'] +"""GARD:0004001""",noma,['cancrum oris'] +"""GARD:0004003""",maternally-inherited diabetes and deafness,"['midd', 'maternally-inherited diabetes and hearing loss', 'mitochondrial diabetes']" +"""GARD:0004010""","progressive epilepsy-intellectual disability syndrome, finnish type","['cln8 disease; northern epilepsy variant', 'ncl; northern epilepsy variant', 'neuronal ceroid lipofuscinosis; northern epilepsy variant', 'northern epilepsy']" +"""GARD:0004011""",familial lcat deficiency,"['complete lcat deficiency', 'fld', 'norum disease']" +"""GARD:0004014""",port-wine nevi-mega cisterna magna-hydrocephalus syndrome,['nova syndrome'] +"""GARD:0004017""",occipital horn syndrome,[] +"""GARD:0004018""",primary tethered cord syndrome,['primary tethered spinal cord syndrome'] +"""GARD:0004031""",oculoauriculofrontonasal syndrome,['oafns'] +"""GARD:0004034""","oculocerebral hypopigmentation syndrome, preus type",[] +"""GARD:0004037""",oculocutaneous albinism type 1,['oca1'] +"""GARD:0004038""",oculocutaneous albinism type 2,['oca2'] +"""GARD:0004039""",oculocutaneous albinism type 3,"['oca3', 'red oculocutaneous albinism', 'rufous oculocutaneous albinism', 'xanthous oculocutaneous albinism']" +"""GARD:0004046""",oculomaxillofacial dysostosis,['richieri-costa-gorlin syndrome'] +"""GARD:0004047""",arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,"['distal arthrogryposis type 5', 'distal arthrogryposis type iib', 'distal arthrogryposis with ophthalmoplegia', 'oculomelic amyoplasia']" +"""GARD:0004049""",3mc syndrome 1,"['michels syndrome; formerly', 'oculopalatoskeletal syndrome', 'craniosynostosis with lid anomalies']" +"""GARD:0004050""",severe oculo-renal-cerebellar syndrome,"['hunter-jurenka-thompson syndrome', 'orc syndrome', 'oculorenocerebellar syndrome']" +"""GARD:0004051""",odonto-onycho dysplasia-alopecia syndrome,[] +"""GARD:0004053""",odontomicronychial dysplasia,[] +"""GARD:0004054""",odonto-onycho-dermal dysplasia,['oodd'] +"""GARD:0004060""",orofaciodigital syndrome type 8,"['ofd8', 'oral-facial-digital syndrome type 8', 'oral-facial-digital syndrome; edwards type', 'orofaciodigital syndrome; edwards type']" +"""GARD:0004061""",orofaciodigital syndrome type 10,"['figuera syndrome', 'ofd10', 'oral-facial-digital syndrome type 10', 'orofaciodigital syndrome with fibular aplasia']" +"""GARD:0004062""",infantile-onset spinocerebellar ataxia,"['iosca', 'ohaha syndrome', 'ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome']" +"""GARD:0004064""",okamoto syndrome,[] +"""GARD:0004065""",postaxial tetramelic oligodactyly,[] +"""GARD:0004066""",oligomeganephronia,['oligomeganephronic renal hypoplasia'] +"""GARD:0004069""",oliver syndrome,['postaxial polydactyly-intellectual disability syndrome'] +"""GARD:0004070""",olivopontocerebellar atrophy-deafness syndrome,['olivopontocerebellar atrophy-hearing loss syndrome'] +"""GARD:0004071""",spinocerebellar ataxia type 1,['sca1'] +"""GARD:0004072""",spinocerebellar ataxia type 2,['sca2'] +"""GARD:0004075""",mutilating palmoplantar keratoderma with periorificial keratotic plaques,"['mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques', 'olmsted syndrome', 'palmoplantar and periorificial keratoderma']" +"""GARD:0004076""",autosomal recessive omodysplasia,['micromelic dysplasia-dislocation of radius syndrome'] +"""GARD:0004079""",lethal omphalocele-cleft palate syndrome,['czeizel syndrome'] +"""GARD:0004080""",cloacal exstrophy,"['oeis complex', 'omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome']" +"""GARD:0004081""",omphalomesenteric cyst,[] +"""GARD:0004083""",cooks syndrome,"['anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome', 'odp']" +"""GARD:0004085""",poikiloderma with neutropenia,['poikiloderma with neutropenia; clericuzio type'] +"""GARD:0004098""",opsismodysplasia,[] +"""GARD:0004106""",renal coloboma syndrome,"['coloboma of optic nerve with renal disease', 'papillo-renal syndrome']" +"""GARD:0004107""",optic pathway glioma,[] +"""GARD:0004116""",oromandibular-limb hypogenesis syndrome,['oroacral syndrome'] +"""GARD:0004118""",orofaciodigital syndrome type 11,"['ofd11', 'oral-facial-digital syndrome type 11', 'oral-facial-digital syndrome; gabrielli type', 'orofaciodigital syndrome; gabrielli type']" +"""GARD:0004119""","x-linked intellectual disability, shashi type",['syndromic x-linked intellectual disability type 11'] +"""GARD:0004120""",orofaciodigital syndrome type 5,"['ofd5', 'oral-facial-digital syndrome type 5', 'orofaciodigital syndrome; thurston type', 'polydactyly postaxial with median cleft of upper lip', 'thurston syndrome']" +"""GARD:0004121""",orofaciodigital syndrome type 1,"['ofd1', 'ofdi', 'ofdsi', 'oral-facial-digital syndrome type 1', 'papillon-léage-psaume syndrome']" +"""GARD:0004129""",oslam syndrome,['osteosarcoma-limb anomalies-erythroid macrocytosis syndrome'] +"""GARD:0004130""",otospondylomegaepiphyseal dysplasia,['osmed'] +"""GARD:0004131""","thiemann disease, familial form","['aseptic necrosis of phalangeal epiphyses', 'osteochondrosis of phalangeal epiphyses']" +"""GARD:0004133""",familial osteochondritis dissecans,['osteochondritis dissecans and short stature'] +"""GARD:0004136""","familial osteodysplasia, anderson type",[] +"""GARD:0004139""",congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,[] +"""GARD:0004142""",osteoglosphonic dysplasia,['osteoglophonic dwarfism'] +"""GARD:0004148""",osteopathia striata-cranial sclerosis syndrome,"['hyperostosis generalisata with striations', 'robinow-unger syndrome']" +"""GARD:0004151""",autosomal dominant osteopetrosis type 1,[] +"""GARD:0004153""","osteopetrosis, autosomal recessive 5",['osteopetrosis; infantile malignant 3'] +"""GARD:0004154""",osteopetrosis with renal tubular acidosis,"['carbonic anhydrase 2 deficiency', 'guibaud-vainsel syndrome', 'marble brain disease', 'mixed rta', 'mixed renal tubular acidosis', 'renal tubular acidosis type 3']" +"""GARD:0004155""",osteopetrosis and related disorders,[] +"""GARD:0004156""",intermediate osteopetrosis,['autosomal recessive intermediate osteopetrosis'] +"""GARD:0004157""","osteopetrosis, autosomal recessive 2","['osteopetrosis; osteoclast-poor', 'osteopetrosis; mild autosomal recessive form']" +"""GARD:0004160""",osteoporosis-pseudoglioma syndrome,"['oppg', 'ocular form of osteogenesis imperfecta']" +"""GARD:0004163""",foix-alajouanine syndrome,"['angiodysgenetic necrotizing myelopathy', 'familial osteosclerosis with abnormalities of the nervous system and meninges', 'subacute angiohypertrophic myelomalacia', 'subacute ascending necrotizing myelitis', 'subacute necrotizing myelitis']" +"""GARD:0004166""",heart defect-tongue hamartoma-polysyndactyly syndrome,['ostravik-lindemann-solberg syndrome'] +"""GARD:0004168""",otodental syndrome,"['globodontia', 'otodental dysplasia']" +"""GARD:0004169""",otofaciocervical syndrome,"['fara-chlupackova syndrome', 'ofc syndrome']" +"""GARD:0004170""",otoonychoperoneal syndrome,[] +"""GARD:0004176""",benign paroxysmal tonic upgaze of childhood with ataxia,['ouvrier-billson syndrome'] +"""GARD:0004183""",overhydrated hereditary stomatocytosis,[] +"""GARD:0004189""",epiphyseal stippling-osteoclastic hyperplasia syndrome,['pacman dysplasia'] +"""GARD:0004192""",extramammary paget disease,[] +"""GARD:0004199""",hydrocephaly-low insertion umbilicus syndrome,['palmer-pagon syndrome'] +"""GARD:0004203""",partial pancreatic agenesis,"['congenital pancreatic agenesis', 'partial agenesis of the pancreas']" +"""GARD:0004204""",adenoma of pancreas,['pancreatic adenoma'] +"""GARD:0004206""",familial pancreatic carcinoma,['familial pancreatic cancer'] +"""GARD:0004210""",pancreatoblastoma,[] +"""GARD:0004213""",polyostotic fibrous dysplasia,[] +"""GARD:0004214""",papilloma of choroid plexus,"['cpp', 'choroid plexus papilloma']" +"""GARD:0004219""",autosomal dominant spastic paraplegia type 17,"['spg17', 'silver syndrome', 'spastic paraplegia-amyotrophy of hands and feet']" +"""GARD:0004222""",parastremmatic dwarfism,[] +"""GARD:0004223""",parc syndrome,['poikiloderma-alopecia-retrognathism-cleft palate syndrome'] +"""GARD:0004224""",paris-trousseau thrombocytopenia,[] +"""GARD:0004227""","idiopathic ventricular fibrillation, non brugada type",['familial paroxysmal ventricular fibrillation; non brugada type'] +"""GARD:0004228""",neuralgic amyotrophy,"['acute brachial plexus neuritis', 'brachial plexus neuritis', 'immune brachial plexus neuropathy', 'mononeuritis multiplex with brachial predilection', 'neuralgic shoulder amyotrophy']" +"""GARD:0004229""",partial atrioventricular septal defect,"['pavc', 'partial avsd', 'partial atrioventricular canal defect']" +"""GARD:0004235""",partington syndrome,"['partington-mulley syndrome', 'x-linked intellectual disability-dystonia-dysarthria syndrome']" +"""GARD:0004236""",fetal parvovirus syndrome,"['mother-to-child transmission of parvovirus syndrome', 'parvovirus antenatal infection']" +"""GARD:0004238""",blepharonasofacial malformation syndrome,"['pashayan syndrome', 'pashayan-pruzansky syndrome']" +"""GARD:0004259""","pseudoleprechaunism syndrome, patterson type","['patterson pseudoleprechaunism syndrome', 'patterson syndrome']" +"""GARD:0004260""",patterson-stevenson-fontaine syndrome,"['patterson-stevenson syndrome', 'split foot deformity-mandibulofacial dysostosis syndrome']" +"""GARD:0004261""",oligoarticular juvenile idiopathic arthritis,"['oligoarticular jia', 'pauciarticular chronic arthritis']" +"""GARD:0004264""",peho syndrome,"['progressive encephalopathy with edema; hypsarrhythmia and optic atrophy', 'progressive encephalopathy-optic atrophy syndrome']" +"""GARD:0004265""",pelizaeus-merzbacher disease,"['diffuse familial brain sclerosis', 'pmd', 'pelizaeus-merzbacher brain sclerosis', 'sudanophilic leukodystrophy; paelizeus-merzbacher type']" +"""GARD:0004266""",pelizaeus-merzbacher-like disease due to aimp1 mutation,[] +"""GARD:0004269""",pelvic dysplasia-arthrogryposis of lower limbs syndrome,['ray-peterson-scott syndrome'] +"""GARD:0004270""","pemphigus vulgaris, familial",[] +"""GARD:0004271""",pendred syndrome,"['goiter-deafness syndrome', 'goiter-hearing loss syndrome']" +"""GARD:0004272""",penile agenesis,"['aphallia', 'penis agenesis']" +"""GARD:0004273""",penoscrotal transposition,[] +"""GARD:0004276""",acroosteolysis-keloid-like lesions-premature aging syndrome,['premature aging syndrome; penttinen type'] +"""GARD:0004278""","phosphoenolpyruvate carboxykinase deficiency, cytosolic","['pepck deficiency; cytosolic', 'pck1 deficiency; cytosolic']" +"""GARD:0004279""","phosphoenolpyruvate carboxykinase deficiency, mitochondrial","['pepck2 deficiency', 'pck2 deficiency']" +"""GARD:0004291""",alopecia-intellectual disability syndrome 2,[] +"""GARD:0004299""",autosomal recessive distal osteolysis syndrome,"['distal osteolysis-short stature-intellectual disability syndrome', 'petit-fryns syndrome']" +"""GARD:0004302""",mesomelia-synostoses syndrome,"['8q13 microdeletion syndrome', 'del(8)q(13)', 'mesomelia-synostoses syndrome; verloes-david-pfeiffer type', 'mesomelic dysplasia with acral synostoses; verloes-david-pfeiffer type', 'monosomy 8q13', 'verloes-david syndrome']" +"""GARD:0004303""",deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,"['hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome', 'pfeiffer-kapferer syndrome']" +"""GARD:0004304""",preaxial polydactyly-colobomata-intellectual disability syndrome,['pfeiffer-mayer syndrome'] +"""GARD:0004305""",pfeiffer-palm-teller syndrome,[] +"""GARD:0004311""",phakomatosis pigmentokeratotica,[] +"""GARD:0004312""",phakomatosis pigmentovascularis,[] +"""GARD:0004315""",phenobarbital embryopathy,[] +"""GARD:0004319""",dihydropteridine reductase deficiency,"['hyperphenylalaninemia due to dihydropteridine reductase deficiency', 'pku type 2', 'phenylketonuria type 2']" +"""GARD:0004323""",phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome,"['phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome', 'stoll-lévy-francfort syndrome']" +"""GARD:0004329""",pgm1-cdg,"['cdg syndrome type it', 'cdg-it', 'cdg1t', 'congenital disorder of glycosylation type 1t', 'congenital disorder of glycosylation type it', 'pgm1-related congenital disorder of glycosylation', 'phosphoglucomutase-1 deficiency']" +"""GARD:0004331""",pgm3-cdg,"['cid due to pgm3 deficiency', 'combined immunodeficiency due to pgm3 deficiency', 'pgm3-related congenital disorder of glycosylation']" +"""GARD:0004337""",phosphoribosylpyrophosphate synthetase superactivity,"['prpp synthetase superactivity', 'prps1 superactivity']" +"""GARD:0004344""",piebaldism,[] +"""GARD:0004346""",autosomal dominant cerebellar ataxia,"['adca', 'autosomal dominant spinocerebellar ataxia']" +"""GARD:0004347""",isolated pierre robin syndrome,['isolated pierre robin sequence'] +"""GARD:0004357""",late-onset retinal degeneration,"['autosomal dominant late-onset retinal degeneration', 'lord']" +"""GARD:0004358""",severe combined immunodeficiency due to foxn1 deficiency,"['alymphoid cystic thymic dysgenesis', 'nude/scid', 'nude/severe combined immunodeficiency', 'scid due to foxn1 deficiency', 'severe t-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome', 'winged helix deficiency']" +"""GARD:0004359""",ringed hair disease,['pili annulati'] +"""GARD:0004361""",pili torti,['twisted hair'] +"""GARD:0004362""",pili torti-developmental delay-neurological abnormalities syndrome,[] +"""GARD:0004364""",pili torti-onychodysplasia syndrome,[] +"""GARD:0004365""",ophthalmomandibulomelic dysplasia,"['omm syndrome', 'pillay syndrome']" +"""GARD:0004369""",trichodermodysplasia-dental alterations syndrome,['pinheiro-freire maia-miranda syndrome'] +"""GARD:0004372""",pitt-hopkins syndrome,[] +"""GARD:0004375""",thumb stiffness-brachydactyly-intellectual disability syndrome,['piussan-lenaerts-mathieu syndrome'] +"""GARD:0004380""",hypoplasminogenemia,['plasminogen deficiency type 1'] +"""GARD:0004381""",congenital plasminogen activator inhibitor type 1 deficiency,['congenital pai-1 deficiency'] +"""GARD:0004382""","platyspondylic dysplasia, torrance type","['plsd-t', 'platyspondylic dysplasia; torrance-luton type', 'platyspondylic lethal skeletal dysplasia; torrance type']" +"""GARD:0004386""",pneumocystosis,[] +"""GARD:0004391""",kindler epidermolysis bullosa,"['congenital bullous poikiloderma', 'kindler syndrome', 'poikiloderma of kindler']" +"""GARD:0004392""",rothmund-thomson syndrome,"['poikiloderma of rothmund-thomson', 'rts']" +"""GARD:0004410""",non-syndromic polydactyly,[] +"""GARD:0004412""",orofaciodigital syndrome type 6,"['joubert syndrome with oral-facial-digital syndrome', 'joubert syndrome with orofaciodigital defect', 'ofd6', 'oral-facial-digital syndrome type 6', 'polydactyly-cleft lip/palate-psychomotor retardation syndrome', 'váradi syndrome', 'váradi-papp syndrome']" +"""GARD:0004413""",polydactyly-myopia syndrome,['czeizel-brooser syndrome'] +"""GARD:0004414""","polydactyly, postaxial, type a1","['postaxial polydactyly; type a', 'polydactyly; postaxial']" +"""GARD:0004417""",polydactyly of a biphalangeal thumb,"['ppd1', 'preaxial polydactyly type 1']" +"""GARD:0004421""",catecholaminergic polymorphic ventricular tachycardia,"['bidirectional ventricular tachycardia induced by catecholamine', 'cpvt', 'malignant paroxysmal ventricular tachycardia', 'polymorphic ventricular tachycardia induced by catecholamines']" +"""GARD:0004424""",polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,['lundberg syndrome'] +"""GARD:0004427""",cronkhite-canada syndrome,"['gastrointestinal polyposis-ectodermal changes syndrome', 'gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome']" +"""GARD:0004428""",polysyndactyly-cardiac malformation syndrome,['bonneau syndrome'] +"""GARD:0004434""",syndactyly type 4,['polysyndactyly; haas type'] +"""GARD:0004436""",bartsocas-papas syndrome,"['autosomal recessive popliteal pterygium syndrome', 'lethal popliteal pterygium syndrome']" +"""GARD:0004437""",porencephaly-cerebellar hypoplasia-internal malformations syndrome,['bonnemann-meinecke syndrome'] +"""GARD:0004438""",porokeratosis of mibelli,[] +"""GARD:0004439""",punctate palmoplantar keratoderma type 2,"['ppkp2', 'pppp', 'punctate palmoplantar hyperkeratosis type 2']" +"""GARD:0004446""",congenital erythropoietic porphyria,"['cep', 'günther disease']" +"""GARD:0004454""",postpoliomyelitis syndrome,"['postpolio sequelae', 'postpolio syndrome', 'postpoliomyelitic syndrome', 'postpoliomyelitis sequelae']" +"""GARD:0004457""",posterior uveitis,['choroiditis'] +"""GARD:0004459""",potassium-aggravated myotonia,"['k+-aggravated myotonia', 'k-aggravated myotonia', 'pam']" +"""GARD:0004465""",phaver syndrome,['powell-chandra-saal syndrome'] +"""GARD:0004470""",guttmacher syndrome,['preaxial deficiency-postaxial polydactyly-hypospadias syndrome'] +"""GARD:0004475""",familial male-limited precocious puberty,"['fmpp', 'familial gonadotropin-independent male-limited sexual precocity', 'male-limited precocious puberty', 'testotoxicosis']" +"""GARD:0004477""",congenital prekallikrein deficiency,[] +"""GARD:0004482""",x-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,['prieto-badia-mulas syndrome'] +"""GARD:0004483""",griscelli syndrome type 2,"['griscelli-pruniéras syndrome type 2', 'hypopigmentation-immunodeficiency with or without neurologic impairment syndrome']" +"""GARD:0004484""",primary ciliary dyskinesia,['pcd'] +"""GARD:0004485""",juvenile primary lateral sclerosis,"['jpls', 'juvenile pls']" +"""GARD:0004488""",intellectual disability-cataracts-calcified pinnae-myopathy syndrome,['primrose syndrome'] +"""GARD:0004494""",progeria-short stature-pigmented nevi syndrome,['mulvihill-smith syndrome'] +"""GARD:0004497""","progeroid syndrome, petty type","['fontaine progeroid syndrome', 'petty syndrome', 'petty-laxova-wiedemann syndrome']" +"""GARD:0004500""",acromelanosis,[] +"""GARD:0004503""",progressive external ophthalmoplegia,[] +"""GARD:0004504""","deafness, x-linked 2","['deafness; conductive; with stapes fixation', 'deafness 3; conductive; with stapes fixation', 'nance deafness', 'deafness; mixed; with perilymphatic gusher', 'sensorineural deafness; profound; with or without a conductive component; associated with a unique developmental abnormality of the ear', 'perilymphatic gusher-deafness syndrome']" +"""GARD:0004507""",atypical progressive supranuclear palsy syndrome,['atypical psp syndrome'] +"""GARD:0004508""",prolactinoma,"['lactotroph adenoma', 'prl-secreting pituitary adenoma', 'prloma', 'pituitary lactotrophic adenoma', 'prolactin-secreting pituitary adenoma']" +"""GARD:0004509""",proliferating trichilemmal cyst,[] +"""GARD:0004513""",properdin deficiency,[] +"""GARD:0004518""",aprosencephaly cerebellar dysgenesis,[] +"""GARD:0004520""",familial prostate cancer,[] +"""GARD:0004522""",transcobalamin i deficiency,"['haptocorrin deficiency', 'tci deficiency', 'transcobalamin-1 deficiency']" +"""GARD:0004527""",autosomal erythropoietic protoporphyria,['epp'] +"""GARD:0004528""",corpus callosum agenesis-abnormal genitalia syndrome,"['acc-abnormal genitalia syndrome', 'microcephaly-corpus callosum agenesis-abnormal genitalia syndrome', 'proud syndrome', 'proud-levine-carpenter syndrome']" +"""GARD:0004531""",proximal spinal muscular atrophy,['sma'] +"""GARD:0004536""",pseudopelade of brocq,[] +"""GARD:0004539""",bifunctional enzyme deficiency,[] +"""GARD:0004540""",pseudoachondroplasia,"['pseudoachondroplastic dysplasia', 'pseudoachondroplastic spondyloepiphyseal dysplasia']" +"""GARD:0004543""",peroxisomal acyl-coa oxidase deficiency,"['pseudo-nald', 'pseudo-neonatal adrenoleukodystrophy', 'pseudoadrenoleukodystrophy']" +"""GARD:0004544""",pseudoaminopterin syndrome,"['assa', 'aminopterin syndrome-like sine aminopterin']" +"""GARD:0004550""",disorder of sex development-intellectual disability syndrome,['verloes-gillerot-fryns syndrome'] +"""GARD:0004552""",generalized pseudohypoaldosteronism type 1,"['autosomal recessive pha1', 'autosomal recessive pseudohypoaldosteronism type 1', 'generalized pha1']" +"""GARD:0004553""",pseudohypoaldosteronism type 2,"['chloride shunt syndrome', 'familial hyperkalemic hypertension', 'gordon hyperkalemia-hypertension syndrome', 'hyperkalemia-hypertension syndrome; gordon type', 'hypertensive hyperkalemia', 'mineralocorticoid resistant hyperkalemia', 'pha2', 'phaii', 'spitzer-weinstein syndrome']" +"""GARD:0004559""",acrootoocular syndrome,['pseudopapilledema-blepharophimosis-hand anomalies syndrome'] +"""GARD:0004561""",idiopathic intracranial hypertension,"['benign intracranial hypertension', 'iih', 'pseudotumor cerebri']" +"""GARD:0004568""",pterygium colli-intellectual disability-digital anomalies syndrome,['khalifa-graham syndrome'] +"""GARD:0004569""",familial pterygium of the conjunctiva,[] +"""GARD:0004570""",antecubital pterygium syndrome,[] +"""GARD:0004573""",x-linked lethal multiple pterygium syndrome,[] +"""GARD:0004577""",ptosis-strabismus-ectopic pupils syndrome,['mcpherson-hall syndrome'] +"""GARD:0004582""",hereditary pulmonary alveolar proteinosis,"['congenital pap', 'congenital pulmonary alveolar proteinosis']" +"""GARD:0004584""",pulmonary arteriovenous malformation,['pavm'] +"""GARD:0004586""",abnormal origin of right or left pulmonary artery from the aorta,"['hemitruncus arteriosus', 'pulmonary artery coming from the aorta']" +"""GARD:0004588""",pulmonary atresia with ventricular septal defect,[] +"""GARD:0004589""",peripheral pulmonary stenosis,"['branch pulmonary artery stenosis', 'pulmonary branch stenosis']" +"""GARD:0004593""",congenital pulmonary sequestration,['congenital bronchopulmonary sequestration'] +"""GARD:0004594""",supravalvular pulmonary stenosis,[] +"""GARD:0004597""",pulmonary valve agenesis,"['absent pulmonary valve syndrome', 'congenital absence of the pulmonary valve', 'pva']" +"""GARD:0004598""",congenital pulmonary veins atresia or stenosis,[] +"""GARD:0004599""",congenital pulmonary venous return anomaly,['congenital pulmonary venous connection anomaly'] +"""GARD:0004600""",pulmonary atresia-intact ventricular septum syndrome,[] +"""GARD:0004603""",punctate acrokeratoderma freckle-like pigmentation,[] +"""GARD:0004606""",purine nucleoside phosphorylase deficiency,"['pnp deficiency', 'pnpase deficiency']" +"""GARD:0004607""",immune-mediated thrombotic thrombocytopenic purpura,"['acquired ttp', 'acquired thrombotic thrombocytopenic purpura', 'autoimmune thrombotic thrombocytopenic purpura', 'thrombotic thrombocytopenic purpura due to anti-adamts-13 antibodies', 'attp', 'ittp']" +"""GARD:0004610""",pyknoachondrogenesis,['camera syndrome'] +"""GARD:0004611""",pycnodysostosis,['pyknodysostosis'] +"""GARD:0004612""",pyle disease,['metaphyseal dysplasia; pyle type'] +"""GARD:0004614""",pyomyositis,"['myositis purulenta tropica', 'myositis tropicans', 'pm', 'suppurative myositis', 'tropical pyomyositis']" +"""GARD:0004620""",pyruvate dehydrogenase e1-alpha deficiency,"['pdhad', 'pyruvate decarboxylase deficiency', 'pyruvate dehydrogenase complex e1 component subunit alpha deficiency']" +"""GARD:0004627""",radial ray hypoplasia-choanal atresia syndrome,['goldblatt-viljoen syndrome'] +"""GARD:0004628""",oculofaciocardiodental syndrome,"['cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome', 'ofcd syndrome']" +"""GARD:0004633""",absent radius-anogenital anomalies syndrome,[] +"""GARD:0004634""",leukocyte adhesion deficiency type ii,"['cdg syndrome type iic', 'cdg-iic', 'cdg2c', 'lad-ii', 'rambam-hasharon syndrome', 'slc35c1-cdg']" +"""GARD:0004635""",retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,"['rambaud-gallian syndrome', 'rambaud-gallian-touchard syndrome']" +"""GARD:0004636""",ramos-arroyo syndrome,"['corneal anesthesia-deafness-intellectual disability syndrome', 'corneal anesthesia-hearing loss-intellectual disability syndrome']" +"""GARD:0004637""",rapadilino syndrome,[] +"""GARD:0004638""",external auditory canal atresia-vertical talus-hypertelorism syndrome,['rasmussen-johnsen-thomsen syndrome'] +"""GARD:0004641""",ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,['passwell-goodman-siprkowski syndrome'] +"""GARD:0004644""",ataxia-deafness-intellectual disability syndrome,"['ataxia-hearing loss-intellectual disability syndrome', 'reardon-baraitser syndrome']" +"""GARD:0004647""",complex regional pain syndrome,[] +"""GARD:0004648""",infantile refsum disease,"['ird', 'mild pbd-zsd', 'mild peroxisome biogenesis disorder-zellweger spectrum disorder']" +"""GARD:0004655""",renal caliceal diverticuli-deafness syndrome,['renal caliceal diverticuli-hearing loss syndrome'] +"""GARD:0004665""",nphp3-related meckel-like syndrome,"['goldston syndrome', 'meckel syndrome type 7', 'meckel-like syndrome type 1', 'renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome']" +"""GARD:0004666""",autosomal recessive distal renal tubular acidosis,"['ar drta', 'autosomal recessive distal rta']" +"""GARD:0004667""",distal renal tubular acidosis,"['classic rta', 'familial distal primary acidosis', 'renal tubular acidosis type 1', 'drta']" +"""GARD:0004668""",autosomal dominant distal renal tubular acidosis,['ad drta'] +"""GARD:0004680""",x-linked retinal dysplasia,[] +"""GARD:0004683""",retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,"['retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome', 'retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome']" +"""GARD:0004684""",retinitis pigmentosa-deafness syndrome,"['retinitis pigmentosa 8; formerly', 'retinitis pigmentosa 21; formerly']" +"""GARD:0004690""",x-linked retinoschisis,"['x-linked juvenile retinoschisis', 'xlrs']" +"""GARD:0004694""",atypical rett syndrome,"['atypical rtt', 'rett syndrome variant']" +"""GARD:0004695""",revesz syndrome,"['dyskeratosis congenita with bilateral exudative retinopathy', 'retinopathy-anemia-central nervous system anomalies syndrome', 'revesz-debuse syndrome']" +"""GARD:0004697""",reynolds syndrome,['primary biliary cirrhosis and systemic scleroderma'] +"""GARD:0004701""",alveolar rhabdomyosarcoma,[] +"""GARD:0004702""",embryonal rhabdomyosarcoma,[] +"""GARD:0004703""","rhizomelic dysplasia, patterson-lowry type",[] +"""GARD:0004704""",polymyalgia rheumatica,['rhizomelic pseudopolyarthritis'] +"""GARD:0004705""","rhizomelic syndrome, urbach type",[] +"""GARD:0004709""",richieri costa-da silva syndrome,['myotonia-intellectual disability-skeletal anomalies syndrome'] +"""GARD:0004718""",richieri costa-pereira syndrome,"['short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome', 'short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome']" +"""GARD:0004721""",isolated right ventricular hypoplasia,[] +"""GARD:0004722""",8q22.1 microdeletion syndrome,"['monosomy 8q22.1', 'nablus mask-like facial syndrome']" +"""GARD:0004723""",rigid spine syndrome,['rigid spine congenital muscular dystrophy'] +"""GARD:0004724""",ring chromosome 17 syndrome,"['ring 17', 'ring chromosome 17']" +"""GARD:0004729""",robin sequence-oligodactyly syndrome,['pierre robin sequence-oligodactyly syndrome'] +"""GARD:0004730""",robinow-sorauf syndrome,"['craniosynostosis-bifid hallux syndrome', 'acrocephalosyndactyly; robinow-sorauf type']" +"""GARD:0004732""",autosomal dominant deafness-onychodystrophy syndrome,"['autosomal dominant hearing loss-onychodystrophy syndrome', 'ddod syndrome']" +"""GARD:0004733""",roch-leri mesosomatous lipomatosis,[] +"""GARD:0004737""",mayer-rokitansky-küster-hauser syndrome type 1,"['congenital absence of uterus and vagina', 'mrkh syndrome type 1', 'rokitansky sequence']" +"""GARD:0004738""",rombo syndrome,[] +"""GARD:0004740""",ulna metaphyseal dysplasia syndrome,['rosenberg-lohr syndrome'] +"""GARD:0004741""",roussy-lévy syndrome,['hereditary areflexic dystasia; roussy-lévy type'] +"""GARD:0004744""",congenital rubella syndrome,"['crs', 'fetal rubella syndrome', 'mother-to-child transmission of rubella syndrome']" +"""GARD:0004748""",ruvalcaba syndrome,[] +"""GARD:0004752""",kousseff syndrome,['sacral meningocele-conotruncal heart defects syndrome'] +"""GARD:0004754""",salla disease,[] +"""GARD:0004767""",benign schwannoma,"['neurilemmoma', 'neurilemoma', 'peripheral fibroblastoma']" +"""GARD:0004768""",schwannomatosis,"['nf3', 'neurilemmomatosis', 'neurofibromatosis type 3']" +"""GARD:0004769""","congenital muscular dystrophy, ullrich type","['scleroatonic muscular dystrophy', 'ucmd', 'ullrich disease']" +"""GARD:0004771""",sclerosteosis,['cortical hyperostosis-syndactyly syndrome'] +"""GARD:0004774""",succinyl-coa:3-oxoacid coa transferase deficiency,"['oxct1 deficiency', 'scot deficiency', 'succinyl-coa acetoacetate transferase deficiency', 'succinyl-coa:3-ketoacid coa transferase deficiency']" +"""GARD:0004775""",aarskog-scott syndrome,"['aarskog syndrome', 'faciodigitogenital syndrome', 'faciogenital dysplasia']" +"""GARD:0004776""",craniodigital-intellectual disability syndrome,"['scott craniodigital syndrome', 'scott-bryant-graham syndrome']" +"""GARD:0004777""",scott syndrome,[] +"""GARD:0004778""",facial dysmorphism-shawl scrotum-joint laxity syndrome,['seaver-cassidy syndrome'] +"""GARD:0004792""",testicular seminomatous germ cell tumor,"['seminoma of testis', 'seminomatous germ cell tumor of testis', 'testicular seminoma']" +"""GARD:0004815""",spontaneous periodic hypothermia,"['episodic spontaneous hypothermia', 'shapiro syndrome']" +"""GARD:0004818""",shigellosis,[] +"""GARD:0004822""",short chain acyl-coa dehydrogenase deficiency,"['acads deficiency', 'scad deficiency', 'scadd']" +"""GARD:0004832""","short rib-polydactyly syndrome, beemer-langer type",['short rib-polydactyly syndrome type 4'] +"""GARD:0004833""","short rib-polydactyly syndrome, majewski type",['short rib-polydactyly syndrome type 2'] +"""GARD:0004834""","short rib-polydactyly syndrome, saldino-noonan type",['short rib-polydactyly syndrome type 1'] +"""GARD:0004835""","short rib-polydactyly syndrome, verma-naumoff type",['short rib-polydactyly syndrome type 3'] +"""GARD:0004838""","short stature, brussels type",['mievis-verellen-dumoulin syndrome'] +"""GARD:0004841""",short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,"['short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome', 'thong-douglas-ferrante syndrome']" +"""GARD:0004856""",short stature-wormian bones-dextrocardia syndrome,['stratton-parker syndrome'] +"""GARD:0004861""",shprintzen-goldberg syndrome,"['marfanoid craniosynostosis syndrome', 'sgs']" +"""GARD:0004863""",shwachman-diamond syndrome,"['pancreatic insufficiency and bone marrow dysfunction', 'sds', 'shwachman syndrome', 'shwachman-bodian-diamond syndrome']" +"""GARD:0004865""",sialuria,['sialuria; french type'] +"""GARD:0004867""",siegler-brewer-carey syndrome,[] +"""GARD:0004869""",sillence syndrome,['brachydactyly-symphalangism syndrome'] +"""GARD:0004870""",silver-russell syndrome,['silver-russell dwarfism'] +"""GARD:0004873""",flat face-microstomia-ear anomaly syndrome,"['blepharophimosis-telecanthus-microstomia syndrome', 'simosa craniofacial syndrome', 'simosa-penchaszadeh-bustos syndrome']" +"""GARD:0004877""",solitary median maxillary central incisor,"['single central maxillary incisor', 'fused incisors', 'incisors; fused', 'single upper central incisor']" +"""GARD:0004879""","progressive familial heart block, type ii",[] +"""GARD:0004880""",sinus node disease and myopia,"['sick sinus syndrome and myopia', 'sss-myopia syndrome']" +"""GARD:0004881""",multiple endocrine neoplasia type 2a,"['men2a', 'ptc syndrome', 'sipple syndrome']" +"""GARD:0004883""",situs inversus totalis,"['complete situs inversus', 'complete situs inversus viscerum', 'situs inversus']" +"""GARD:0004886""",mononen-karnes-senac syndrome,['skeletal dysplasia-brachydactyly syndrome'] +"""GARD:0004891""",leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,"['h-smd', 'hypomyelination-spondyloepimetaphyseal dysplasia syndrome', 'leukoencephalopathy-semd syndrome', 'leukoencephalopathy-metaphyseal chondrodysplasia syndrome']" +"""GARD:0004898""",soft tissue sarcoma,"['malignant mesenchymal tumor', 'malignant soft tissue tumor', 'soft part sarcoma']" +"""GARD:0004899""",male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,['sohval-soffer syndrome'] +"""GARD:0004900""",somatostatinoma,[] +"""GARD:0004905""",congenital heart defect-round face-developmental delay syndrome,['sonoda syndrome'] +"""GARD:0004910""",autosomal recessive spastic ataxia of charlevoix-saguenay,"['arsacs', 'autosomal recessive spastic ataxia type 6', 'spax6']" +"""GARD:0004914""",infantile-onset ascending hereditary spastic paralysis,['iahsp'] +"""GARD:0004918""",spastic paraplegia-precocious puberty syndrome,[] +"""GARD:0004919""",autosomal recessive spastic paraplegia type 11,"['nakamura-osame syndrome', 'spg11', 'spastic paraplegia-intellectual disability-thin corpus callosum syndrome']" +"""GARD:0004921""",spastic paraplegia-neuropathy-poikiloderma syndrome,['antinolo-nieto-borrego syndrome'] +"""GARD:0004922""",autosomal recessive spastic paraplegia type 18,['spg18'] +"""GARD:0004923""",spastic paraplegia type 2,"['spg2', 'spastic gait type 2', 'spastic paraparesis type 2', 'x-linked spastic paraplegia type 2']" +"""GARD:0004924""",autosomal recessive spastic paraplegia type 39,"['spg39', 'spastic paraplegia due to nte mutation', 'spastic paraplegia due to neuropathy target esterase mutation']" +"""GARD:0004925""",autosomal dominant spastic paraplegia type 4,['spg4'] +"""GARD:0004926""",autosomal recessive spastic paraplegia type 5a,['spg5a'] +"""GARD:0004927""",spastic paraplegia type 7,['spg7'] +"""GARD:0004928""",autosomal dominant spastic paraplegia type 6,['spg6'] +"""GARD:0004931""",spastic paraplegia-glaucoma-intellectual disability syndrome,[] +"""GARD:0004932""",spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,['spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome'] +"""GARD:0004936""",weill-marchesani syndrome,['spherophakia-brachymorphia syndrome'] +"""GARD:0004938""",juvenile neuronal ceroid lipofuscinosis,"['batten disease', 'jncl', 'juvenile ncl', 'spielmeyer-vogt disease']" +"""GARD:0004940""",spina bifida-hypospadias syndrome,[] +"""GARD:0004942""",spinal atrophy-ophthalmoplegia-pyramidal syndrome,['hamano-tsukamoto syndrome'] +"""GARD:0004945""",proximal spinal muscular atrophy type 2,"['intermediate spinal muscular atrophy', 'sma type 2', 'sma type ii', 'sma-ii', 'sma2']" +"""GARD:0004947""",spinal muscular atrophy with congenital bone fractures 1,['spinal muscular atrophy; type i; with congenital bone fractures'] +"""GARD:0004950""",spinocerebellar ataxia type 30,['sca30'] +"""GARD:0004952""",autosomal recessive cerebellar ataxia-movement disorder syndrome,"['scar4', 'scasi']" +"""GARD:0004953""",spinocerebellar ataxia type 5,['sca5'] +"""GARD:0004954""",infantile-onset autosomal recessive nonprogressive cerebellar ataxia,"['autosomal recessive spinocerebellar ataxia type 6', 'scar6']" +"""GARD:0004955""",spinocerebellar ataxia type 7,"['ataxia with pigmentary retinopathy', 'cerebellar syndrome-pigmentary maculopathy syndrome', 'sca7']" +"""GARD:0004956""",spinocerebellar ataxia type 8,['sca8'] +"""GARD:0004958""",spinocerebellar ataxia-dysmorphism syndrome,[] +"""GARD:0004963""",splenogonadal fusion-limb defects-micrognathia syndrome,['sgfld syndrome'] +"""GARD:0004967""",karsch-neugebauer syndrome,['split hand/split foot-nystagmus syndrome'] +"""GARD:0004969""",czeizel-losonci syndrome,"['split hand with obstructive uropathy; spina bifida and diaphragmatic defects', 'split hand-urinary anomalies-spina bifida syndrome']" +"""GARD:0004970""",sponastrime dysplasia,"['spondylar and nasal changes with striations of the metaphyses (sponastrime) dysplasia', 'spondyloepimetaphyseal dysplasia; sponastrime type']" +"""GARD:0004972""",spondylocamptodactyly syndrome,[] +"""GARD:0004973""","spondylocostal dysostosis 3, autosomal recessive",[] +"""GARD:0004974""",spondylocarpotarsal synostosis,['synspondylism'] +"""GARD:0004976""","spondylocostal dysostosis 4, autosomal recessive",[] +"""GARD:0004977""","brachyolmia type 1, toledo type","['sed; chondroitin sulfate type', 'spondyloepiphyseal dysplasia tarda; toledo type', 'paps-chondroitin sulfate sulfotransferase deficiency']" +"""GARD:0004978""",spondyloenchondrodysplasia,"['spencd', 'spondyloenchondromatosis', 'spondylometaphyseal dysplasia with enchondromatous changes']" +"""GARD:0004979""",x-linked spondyloepimetaphyseal dysplasia,[] +"""GARD:0004980""","spondyloepimetaphyseal dysplasia, shohat type",['semd; shohat type'] +"""GARD:0004982""",spondyloepimetaphyseal dysplasia with joint laxity,"['semd-jl', 'semdjl1', 'spondyloepimetaphyseal dysplasia with joint laxity type 1', 'spondyloepimetaphyseal dysplasia with joint laxity; beighton type']" +"""GARD:0004984""",schimke immuno-osseous dysplasia,"['schimke syndrome', 'spondyloepiphyseal dysplasia-nephrotic syndrome']" +"""GARD:0004985""","spondyloepiphyseal dysplasia tarda, x-linked","['sed tarda; x-linked', 'spondyloepiphyseal dysplasia; late']" +"""GARD:0004987""",spondyloepiphyseal dysplasia congenita,"['congenital spondyloepiphyseal dysplasia', 'sedc', 'spranger-wiedemann disease']" +"""GARD:0004991""","spondylometaphyseal dysplasia, 'corner fracture' type",['spondylometaphyseal dysplasia; sutcliffe type'] +"""GARD:0004993""","spondylometaphyseal dysplasia, sedaghatian type",[] +"""GARD:0004994""",spondyloperipheral dysplasia-short ulna syndrome,[] +"""GARD:0004997""",familial spontaneous pneumothorax,[] +"""GARD:0005003""",sebocystomatosis,['steatocystoma multiplex'] +"""GARD:0005004""",steatocystoma multiplex-natal teeth syndrome,[] +"""GARD:0005012""",sternal cleft,"['cleft sternum', 'sternum bifidum']" +"""GARD:0005015""",steroid dehydrogenase deficiency-dental anomalies syndrome,['lyngstadaas syndrome'] +"""GARD:0005018""",stickler syndrome type 1,[] +"""GARD:0005020""",stickler syndrome type 2,[] +"""GARD:0005021""",autosomal dominant otospondylomegaepiphyseal dysplasia,"['ad osmed', 'stickler syndrome type 3', 'stickler syndrome; non-ocular type']" +"""GARD:0005023""",stiff person spectrum disorder,"['moersch-woltman syndrome', 'sms', 'sps', 'stiff man syndrome']" +"""GARD:0005025""",stiff skin syndrome,[] +"""GARD:0005026""",stimmler syndrome,[] +"""GARD:0005027""",non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,['stoelinga-de koomen-davis syndrome'] +"""GARD:0005029""",arthrogryposis-ectodermal dysplasia syndrome,['stoll-alembik-finck syndrome'] +"""GARD:0005034""",alpha delta granule deficiency,"['alpha dense granule deficiency', 'combined alpha-delta platelet storage pool deficiency']" +"""GARD:0005036""",brachydactyly-mesomelia-intellectual disability-heart defects syndrome,['stratton-garcia-young syndrome'] +"""GARD:0005040""",infantile bilateral striatal necrosis,"['ibsn', 'infantile striatonigral degeneration', 'infantile striatonigral necrosis']" +"""GARD:0005041""",autosomal dominant spastic paraplegia type 3,['strümpell disease'] +"""GARD:0005045""",stüve-wiedemann syndrome,"['neonatal schwartz-jampel syndrome', 'sjs2', 'schwartz-jampel syndrome type 2', 'stüve-wiedemann dysplasia']" +"""GARD:0005049""",classic lissencephaly,['lissencephaly type 1'] +"""GARD:0005050""",subependymal nodular heterotopia,[] +"""GARD:0005051""",subpulmonary stenosis,[] +"""GARD:0005053""",isolated succinate-coq reductase deficiency,"['isolated mitochondrial respiratory chain complex ii deficiency', 'isolated succinate dehydrogenase deficiency', 'isolated succinate-coenzyme q reductase deficiency', 'isolated succinate-ubiquinone reductase deficiency']" +"""GARD:0005058""",sugarman brachydactyly,['sugarman-hager-kulik syndrome'] +"""GARD:0005061""",multiple sulfatase deficiency,"['juvenile sulfatidosis; austin type', 'msd', 'mucosulfatidosis']" +"""GARD:0005062""",isolated sulfite oxidase deficiency,"['isod', 'sulfocysteinuria']" +"""GARD:0005066""",microphthalmia-ankyloblepharon-intellectual disability syndrome,"['mcops4', 'syndromic microphthalmia type 4']" +"""GARD:0005068""","46,xy complete gonadal dysgenesis","['46;xy cgd', '46;xy pure gonadal dysgenesis', 'swyer syndrome']" +"""GARD:0005070""",symmetrical thalamic calcifications,['bilateral symmetrical thalamic gliosis'] +"""GARD:0005074""",distal symphalangism,[] +"""GARD:0005077""",symphalangism with multiple anomalies of hands and feet,['learman syndrome'] +"""GARD:0005081""",syndactyly type 1,[] +"""GARD:0005084""",cenani-lenz syndrome,"['cenani syndactyly', 'cenani-lenz syndactyly', 'syndactyly type 7']" +"""GARD:0005087""",syndactyly type 2,['synpolydactyly'] +"""GARD:0005088""",syndactyly type 3,"['sd3', 'syndactyly of fingers 4 and 5']" +"""GARD:0005089""",syndactyly type 5,"['postaxial syndactyly with metacarpal synostosis', 'sd5']" +"""GARD:0005090""",syndactyly-polydactyly-ear lobe syndrome,[] +"""GARD:0005091""",syngnathia-cleft palate syndrome,[] +"""GARD:0005092""",dobrow syndrome,['syngnathia-multiple anomalies syndrome'] +"""GARD:0005100""",syringocystadenoma papilliferum,"['fistulous vegetative verrucous hydradenoma', 'naevus syringocystadenomatosus papilliferus', 'papillary syringocystadenoma', 'scap', 'syringadenoma papilliferum']" +"""GARD:0005104""",systemic primary carnitine deficiency,"['cdsp', 'cud', 'carnitine transporter defect', 'carnitine uptake deficiency', 'deficiency of plasma-membrane carnitine transporter', 'spcd']" +"""GARD:0005116""",thrombocytopenia-absent radius syndrome,['tar syndrome'] +"""GARD:0005120""",microcephalic osteodysplastic primordial dwarfism types i and iii,"['mopd types i and iii', 'microcephalic osteodysplastic primordial dwarfism; taybi-linder type', 'primordial microcephalic dwarfism; crachami type', 'taybi-linder syndrome']" +"""GARD:0005121""",otopalatodigital syndrome type 1,"['opd i syndrome', 'opd syndrome 1', 'taybi syndrome']" +"""GARD:0005123""",anonychia-microcephaly syndrome,['teebi-kaurah syndrome'] +"""GARD:0005124""",autosomal recessive faciodigitogenital syndrome,"['aarskog-like syndrome', 'facio-digito-genital syndrome; kuwait type', 'teebi-naguib-alawadi syndrome']" +"""GARD:0005125""",teebi-shaltout syndrome,[] +"""GARD:0005126""",trigonocephaly-bifid nose-acral anomalies syndrome,[] +"""GARD:0005128""",tel hashomer camptodactyly syndrome,['camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome'] +"""GARD:0005133""",piebald trait-neurologic defects syndrome,['telfer-sugar-jaeger syndrome'] +"""GARD:0005135""",familial temporal lobe epilepsy,[] +"""GARD:0005138""",frank-ter haar syndrome,['ter haar syndrome'] +"""GARD:0005140""",embryonal carcinoma,[] +"""GARD:0005144""",tetanus,[] +"""GARD:0005148""",tetra-amelia,['total amelia'] +"""GARD:0005151""",tetraploidy,[] +"""GARD:0005153""",inverted duplicated chromosome 15 syndrome,"['duplication/inversion 15q11', 'inv dup (15) syndrome', 'isodicentric chromosome 15 syndrome', 'non-distal tetrasomy 15q', 'non-telomeric tetrasomy 15q', 'idic (15) syndrome']" +"""GARD:0005158""",thakker-donnai syndrome,['dysmorphism-multiple structural anomalies syndrome'] +"""GARD:0005170""",progressive deafness with stapes fixation,"['progressive hearing loss with stapes fixation', 'stapedo-vestibular ankylosis', 'thies-reis syndrome']" +"""GARD:0005175""",thomas syndrome,['potter sequence-cleft lip/palate-cardiopathy syndrome'] +"""GARD:0005176""",x-linked thrombocytopenia with normal platelets,[] +"""GARD:0005177""",hepatic fibrosis-renal cysts-intellectual disability syndrome,['thompson-baraitser syndrome'] +"""GARD:0005180""",thoracic dysplasia-hydrocephalus syndrome,[] +"""GARD:0005181""",thoraco-abdominal enteric duplication,[] +"""GARD:0005184""",thoracolaryngopelvic dysplasia,['barnes syndrome'] +"""GARD:0005186""",krt1-related diffuse nonepidermolytic keratoderma,['krt1-related diffuse neppk'] +"""GARD:0005188""",stormorken-sjaastad-langslet syndrome,"['stormorken syndrome', 'thrombocytopathy-asplenia-miosis syndrome']" +"""GARD:0005191""",thrombocytopenia 2,['thrombocytopenia; autosomal dominant; 2'] +"""GARD:0005194""",immune thrombocytopenia,"['itp', 'immune thrombocytopenic purpura']" +"""GARD:0005195""",familial thrombomodulin anomalies,[] +"""GARD:0005199""",thumb deformity-alopecia-pigmentation anomaly syndrome,['sparse hair-short stature-skin anomalies syndrome'] +"""GARD:0005201""",thymic epithelial neoplasm,"['ten', 'thymic epithelial tumor']" +"""GARD:0005202""",thymic-renal-anal-lung dysplasia,[] +"""GARD:0005204""",familial thyroglossal duct cyst,[] +"""GARD:0005206""","thyroid cancer, nonmedullary, 2",[] +"""GARD:0005210""",absent tibia-polydactyly-arachnoid cyst syndrome,['holmes-collins syndrome'] +"""GARD:0005216""",tick-borne encephalitis,['tbe'] +"""GARD:0005221""",hereditary neuropathy with liability to pressure palsies,"['current pressure-sensitive neuropathy', 'hnpp', 'heterozygous microdeletion 17p11.2p12', 'potato-grubbing palsy', 'tomaculous neuropathy', ""tulip-bulb digger's palsy""]" +"""GARD:0005225""",toriello-carey syndrome,['corpus callosum agenesis-blepharophimosis-robin sequence syndrome'] +"""GARD:0005230""",torticollis-keloids-cryptorchidism-renal dysplasia syndrome,[] +"""GARD:0005231""",skin fragility-woolly hair-palmoplantar keratoderma syndrome,['skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome'] +"""GARD:0005232""",weismann-netter syndrome,"['anterior bowing of legs with dwarfism', 'wns', 'weismann-netter-stuhl syndrome']" +"""GARD:0005233""",tracheal agenesis,[] +"""GARD:0005235""",tracheobronchopathia osteochondroplastica,['tracheopathia osteoplastica'] +"""GARD:0005237""",hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,[] +"""GARD:0005238""",x-linked intellectual disability-seizures-psoriasis syndrome,['tranebjaerg-svejgaard syndrome'] +"""GARD:0005243""",autosomal dominant optic atrophy plus syndrome,"['doa+', 'optic atrophy-deafness-polyneuropathy-myopathy syndrome', 'optic atrophy-hearing loss-polyneuropathy-myopathy syndrome']" +"""GARD:0005250""",trichinellosis,['trichinosis'] +"""GARD:0005258""",syndromic diarrhea,"['phenotypic diarrhea', 'sd/the', 'syndromic diarrhea/tricho-hepato-enteric syndrome', 'tricho-hepato-enteric syndrome', 'trichohepatoenteric syndrome']" +"""GARD:0005261""",trichodysplasia-xeroderma syndrome,[] +"""GARD:0005263""",trichofolliculoma,[] +"""GARD:0005266""",trichomegaly-retina pigmentary degeneration-dwarfism syndrome,"['long eyelashes-intellectual disability syndrome', 'oliver-mcfarlane syndrome']" +"""GARD:0005267""",trichoodontoonychial dysplasia,['trichoodontoonychial dysplasia with bone deficiency in frontoparietal region'] +"""GARD:0005270""","trichothiodystrophy 1, photosensitive","['pibids syndrome', 'tay syndrome', 'trichothiodystrophy with congenital ichthyosis', 'ichthyosiform erythroderma with hair abnormality and mental and growth retardation', 'trichothiodystrophy; photosensitive']" +"""GARD:0005271""","trichothiodystrophy 4, nonphotosensitive","['trichothiodystrophy-neurocutaneous syndrome', 'bids syndrome', 'amish brittle hair brain syndrome', 'hair-brain syndrome', 'trichothiodystrophy; nonphotosensitive 1', 'pollitt syndrome']" +"""GARD:0005274""",tricuspid atresia,[] +"""GARD:0005279""",baraitser-winter cerebrofrontofacial syndrome,[] +"""GARD:0005286""",triopia,[] +"""GARD:0005287""",triose phosphate-isomerase deficiency,[] +"""GARD:0005289""",polydactyly of a triphalangeal thumb,"['ppd2', 'preaxial polydactyly type 2']" +"""GARD:0005290""",triphalangeal thumbs-brachyectrodactyly syndrome,['carnevale-hernández-del castillo syndrome'] +"""GARD:0005295""",triploidy,[] +"""GARD:0005299""",trisomy 10p,[] +"""GARD:0005304""",mosaic trisomy 12,"['mosaic trisomy chromosome 12', 'trisomy 12 mosaicism']" +"""GARD:0005305""",trisomy 12p,['duplication 12p'] +"""GARD:0005313""",mosaic trisomy 15,"['mosaic trisomy chromosome 15', 'trisomy 15 mosaicism']" +"""GARD:0005317""",mosaic trisomy 17,"['mosaic trisomy chromosome 17', 'trisomy 17 mosaicism']" +"""GARD:0005318""",trisomy 17p,['dup(17p)'] +"""GARD:0005323""",trisomy 18p,"['duplication 18p', 'duplication of the short arm of chromosome 18', 'trisomy of the short arm of chromosome 18']" +"""GARD:0005331""",mosaic trisomy 2,"['mosaic trisomy chromosome 2', 'trisomy 2 mosaicism']" +"""GARD:0005333""",trisomy 20p,"['dup(20p)', 'duplication of 20p', 'partial duplication of chromosome 20p', 'partial duplication of the short arm of chromosome 20', 'partial trisomy of chromosome 20p', 'partial trisomy of the short arm of chromosome 20']" +"""GARD:0005342""",mosaic trisomy 3,"['mosaic trisomy chromosome 3', 'trisomy 3 mosaicism']" +"""GARD:0005354""",mosaic trisomy 7,"['mosaic trisomy chromosome 7', 'trisomy 7 mosaicism']" +"""GARD:0005359""",mosaic trisomy 8,"['mosaic trisomy chromosome 8', 'trisomy 8 mosaicism', 'warkany syndrome']" +"""GARD:0005362""",trisomy 8q,['duplication 8q'] +"""GARD:0005372""",autosomal recessive spastic paraplegia type 20,"['childhood-onset spastic paraparesis-distal muscle wasting syndrome', 'spg20', 'troyer syndrome']" +"""GARD:0005388""",transient tyrosinemia of the newborn,['transient tyrosinemia of the neonate'] +"""GARD:0005392""",galactose epimerase deficiency,"['epimerase deficiency galactosemia', 'gale deficiency', 'gale-d', 'galactosemia type 3', 'udp-galactose-4-epimerase deficiency', 'uridine diphosphate galactose-4-epimerase deficiency']" +"""GARD:0005393""",uhl anomaly,[] +"""GARD:0005394""",ulbright-hodes syndrome,"['renal dysplasia-limb defects syndrome', 'renal dysplasia-mesomelia-radiohumeral fusion syndrome']" +"""GARD:0005395""",ulerythema ophryogenesis,[] +"""GARD:0005398""",ulna hypoplasia-intellectual disability syndrome,[] +"""GARD:0005400""",ulnar hypoplasia-split foot syndrome,"['ulnar hypoplasia-lobster-claw deformity of feet syndrome', 'van den berghe-dequecker syndrome']" +"""GARD:0005403""",umbilical cord ulceration-intestinal atresia syndrome,[] +"""GARD:0005404""",uncombable hair syndrome,['pili trianguli et canaliculi'] +"""GARD:0005408""",17q11 microdeletion syndrome,"['del(17)(q11)', 'monosomy 17q11', 'nf1 microdeletion syndrome', 'neurofibromatosis type 1 microdeletion syndrome']" +"""GARD:0005409""",kagami-ogata syndrome due to paternal uniparental disomy of chromosome 14,['upd(14)pat'] +"""GARD:0005421""",upington disease,['hip dysplasia-enchondromata-ecchondroma syndrome'] +"""GARD:0005425""",urachal cyst,[] +"""GARD:0005426""",urban-rogers-meyer syndrome,"['intellectual disability-short stature-hand contractures-genital anomalies syndrome', 'prader-willi habitus-osteopenia-camptodactyly syndrome']" +"""GARD:0005427""",hereditary mucoepithelial dysplasia,['urban-schosser-spohn syndrome'] +"""GARD:0005429""",hereditary orotic aciduria,"['orotidylic decarboxylase deficiency', 'uridine monophosphate synthetase deficiency']" +"""GARD:0005430""",müllerian derivatives-lymphangiectasia-polydactyly syndrome,['urioste syndrome'] +"""GARD:0005435""",usher syndrome type 1,['ush1'] +"""GARD:0005436""","usher syndrome, type i","['retinitis pigmentosa and congenital deafness', 'us1']" +"""GARD:0005437""","usher syndrome, type ic",['usher syndrome; type i; acadian variety'] +"""GARD:0005438""","usher syndrome, type id",[] +"""GARD:0005439""","usher syndrome, type ie",[] +"""GARD:0005440""",usher syndrome type 2,['ush2'] +"""GARD:0005442""",usher syndrome type 3,['ush3'] +"""GARD:0005443""",vacterl/vater association,"['vacterl association', 'vater association']" +"""GARD:0005445""",mayer-rokitansky-küster-hauser syndrome,"['mrkh syndrome', 'rokitansky syndrome']" +"""GARD:0005447""",fetal valproate spectrum disorder,"['fetal valproate syndrome', 'fetal valproic acid syndrome', 'valproic acid embryopathy']" +"""GARD:0005453""",van den bosch syndrome,[] +"""GARD:0005456""",cerebrofacioarticular syndrome,['van maldergem syndrome'] +"""GARD:0005461""",congenital bilateral absence of vas deferens,"['congenital bilateral agenesis of vas deferens', 'congenital bilateral aplasia of vas deferens']" +"""GARD:0005467""",vein of galen aneurysmal malformation,['vein of galen arteriovenous malformations'] +"""GARD:0005469""",velo-facial-skeletal syndrome,[] +"""GARD:0005470""",congenital velopharyngeal incompetence,[] +"""GARD:0005472""",ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome,['stoll-kieny-dott syndrome'] +"""GARD:0005476""",congenitally uncorrected transposition of the great arteries,"['congenitally uncorrected transposition of the great vessels', 'd-transposition of the great arteries', 'dextro-transposition of the great arteries', 'isolated ventriculoarterial discordance', 'ventriculoarterial discordance with atrioventricular concordance']" +"""GARD:0005478""",brachyolmia-amelogenesis imperfecta syndrome,"['platyspondyly-amelogenesis imperfecta syndrome', 'verloes-bourguignon syndrome']" +"""GARD:0005481""",microspherophakia-metaphyseal dysplasia syndrome,['verloes-van maldergem-de marneffe syndrome'] +"""GARD:0005482""",verloove vanhorick-brubakk syndrome,['cleft lip-limb and heart malformations syndrome'] +"""GARD:0005484""",inflammatory linear verrucous epidermal nevus,['ilven'] +"""GARD:0005485""",acanthokeratolytic verrucous nevus,[] +"""GARD:0005488""",congenital vertical talus,"['congenital convex foot', 'congenital convex pes valgus', 'congenital rocker-bottom foot']" +"""GARD:0005490""",microcephaly-brachydactyly-kyphoscoliosis syndrome,['viljoen-kallis-voges syndrome'] +"""GARD:0005494""",viral hemorrhagic fever,[] +"""GARD:0005495""",malignant sertoli-leydig cell tumor of the ovary,"['androblastoma', 'arrhenoblastoma', 'ovarian sertoli-leydig cell cancer', 'ovarian malignant sertoli-leydig cell tumor', 'virilizing ovarian tumor']" +"""GARD:0005496""",oculogastrointestinal muscular dystrophy,['visceral myopathy-familial external ophthalmoplegia syndrome'] +"""GARD:0005500""",vitamin b12-responsive methylmalonic acidemia type cbla,['vitamin b12-responsive methylmalonic aciduria type cbla'] +"""GARD:0005507""",autosomal dominant vitreoretinochoroidopathy,['advirc'] +"""GARD:0005508""",very long chain acyl-coa dehydrogenase deficiency,"['vlcad deficiency', 'vlcadd']" +"""GARD:0005509""",laryngeal abductor paralysis,"['familial vocal cord dysfunction', 'gerhardt syndrome']" +"""GARD:0005513""",mayer-rokitansky-küster-hauser syndrome type 2,"['atypical mrkh syndrome', 'mrkh syndrome type 2', 'murcs association', 'müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome']" +"""GARD:0005518""",hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome,"['ferlini-ragno-calzolari syndrome', 'waaler-aarskog syndrome']" +"""GARD:0005519""",waardenburg syndrome type 1,"['ws1', 'waardenburg syndrome type i']" +"""GARD:0005520""",waardenburg syndrome type 2,"['ws2', 'waardenburg syndrome type ii']" +"""GARD:0005522""","waardenburg syndrome, type 2b",[] +"""GARD:0005523""",waardenburg syndrome type 3,"['klein-waardenburg syndrome', 'ws3', 'waardenburg syndrome type iii', 'waardenburg syndrome with limb anomalies']" +"""GARD:0005524""",waardenburg-shah syndrome,"['shah-waardenburg syndrome', 'ws4', 'waardenburg syndrome type 4', 'waardenburg-hirschsprung syndrome']" +"""GARD:0005525""",waardenburg syndrome,[] +"""GARD:0005528""",wagr syndrome,"['del(11)(p13)', 'deletion 11p13', 'monosomy 11p13', 'wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome']" +"""GARD:0005530""",aniridia-intellectual disability syndrome,['walker-dyson syndrome'] +"""GARD:0005532""",cleidorhizomelic syndrome,"['rhizomelic shortness with clavicular defect', 'wallis-zieff-goldblatt syndrome']" +"""GARD:0005534""",micro syndrome,"['warbm', 'warburg micro syndrome']" +"""GARD:0005535""","deaf blind hypopigmentation syndrome, yemenite type","['warburg-thomsen syndrome', 'yemenite deaf-blind hypopigmentation syndrome']" +"""GARD:0005538""","craniosynostosis, boston type","['craniosynostosis; warman type', 'warman-mulliken-hayward syndrome']" +"""GARD:0005539""",acromelic frontonasal dysplasia,"['afnd', 'acromelic frontonasal dysostosis', 'toriello syndrome']" +"""GARD:0005545""",weaver-williams syndrome,[] +"""GARD:0005552""","distal myopathy, welander type",['wdm'] +"""GARD:0005554""",cataract-aberrant oral frenula-growth delay syndrome,['wellesley-carman-french syndrome'] +"""GARD:0005555""",spastic paraparesis-deafness syndrome,"['spastic paraparesis-hearing loss syndrome', 'wells-jankovic syndrome']" +"""GARD:0005560""",white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,['curatolo-cilio-pessagno syndrome'] +"""GARD:0005562""",osteopathia striata-pigmentary dermopathy-white forelock syndrome,['whyte-murphy syndrome'] +"""GARD:0005565""",wiedemann-steiner syndrome,['hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome'] +"""GARD:0005569""",wildervanck syndrome,['cervicooculoacoustic syndrome'] +"""GARD:0005573""",acquired von willebrand syndrome,['acquired von willebrand disease'] +"""GARD:0005575""",prader-willi syndrome,['prader-labhart-willi syndrome'] +"""GARD:0005576""",denys-drash syndrome,"['drash syndrome', 'wilms tumor-dsd syndrome', 'wilms tumor-disorder of sex development syndrome']" +"""GARD:0005579""",wilson-turner syndrome,"['wts', 'x-linked intellectual disability-gynecomastia-obesity syndrome']" +"""GARD:0005584""",curry-jones syndrome,['corpus callosum agenesis-polysyndactyly syndrome'] +"""GARD:0005587""",hypodontia-dysplasia of nails syndrome,"['hypodontia-nail dysgenesis syndrome', 'tooth and nail syndrome', 'witkop syndrome']" +"""GARD:0005589""",wolcott-rallison syndrome,"['early-onset diabetes mellitus with multiple epiphyseal dysplasia', 'wrs']" +"""GARD:0005592""",woodhouse-sakati syndrome,"['diabetes-hypogonadism-deafness-intellectual disability syndrome', 'diabetes-hypogonadism-hearing loss-intellectual disability syndrome']" +"""GARD:0005593""",intrauterine growth retardation with increased mitomycin c sensitivity,[] +"""GARD:0005595""",carvajal syndrome,"['kwwh type ii', 'keratoderma with woolly hair type ii', 'woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome', 'woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome', 'wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome', 'wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome']" +"""GARD:0005597""",woolly hair,"['familial woolly hair syndrome', 'familial wooly hair syndrome', 'hereditary woolly hair syndrome', 'hereditary wooly hair syndrome', 'wooly hair']" +"""GARD:0005598""",worster-drought syndrome,['congenital suprabulbar paresis'] +"""GARD:0005611""","severe x-linked intellectual disability, gustavson type",[] +"""GARD:0005613""","intellectual developmental disorder, x-linked 63","['mental retardation; x-linked 68', 'mental retardation; x-linked 63']" +"""GARD:0005614""","intellectual developmental disorder, x-linked 29","['mental retardation; x-linked 32', 'mental retardation; x-linked 76', 'mental retardation; x-linked 38', 'mental retardation; x-linked 87', 'mental retardation; x-linked 29', 'mental retardation; x-linked 43', 'mental retardation; x-linked 54', 'mental retardation; x-linked 33', 'mental retardation; x-linked 52']" +"""GARD:0005615""","x-linked intellectual disability, snyder type",['snyder-robinson syndrome'] +"""GARD:0005617""",allan-herndon-dudley syndrome,"['ahds', 'mct8 deficiency', 'monocarboxylate transporter 8 deficiency', 'x-linked intellectual disability-hypotonia syndrome']" +"""GARD:0005618""",t-b+ severe combined immunodeficiency due to gamma chain deficiency,"['scidx1', 't-b+ scid due to gamma chain deficiency', 't-b+ severe combined immunodeficiency; x-linked']" +"""GARD:0005620""",xanthinuria type ii,"['xdh and aox dual deficiency', 'xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency']" +"""GARD:0005621""",xanthinuria type i,"['xdh deficiency', 'xo deficiency', 'xor deficiency', 'xanthine dehydrogenase deficiency', 'xanthine oxidase deficiency', 'xanthine oxidoreductase deficiency']" +"""GARD:0005622""",cerebrotendinous xanthomatosis,"['ctx', 'sterol 27-hydroxylase deficiency']" +"""GARD:0005623""",dehydrated hereditary stomatocytosis,['hereditary xerocytosis'] +"""GARD:0005624""","xeroderma pigmentosum, complementation group a","['xeroderma pigmentosum i', 'xp; group a']" +"""GARD:0005625""","xeroderma pigmentosum, complementation group b",['xp; group b'] +"""GARD:0005626""","xeroderma pigmentosum, complementation group c","['xeroderma pigmentosum iii', 'xpcc', 'xp; group c']" +"""GARD:0005627""","xeroderma pigmentosum, complementation group e","['xp; group e', 'xeroderma pigmentosum v', 'xpe']" +"""GARD:0005628""","xeroderma pigmentosum, complementation group f","['xp; group f', 'xeroderma pigmentosum vi']" +"""GARD:0005629""","xeroderma pigmentosum, complementation group g","['xp; group g', 'xeroderma pigmentosum vii']" +"""GARD:0005630""",xeroderma pigmentosum variant,['xpv'] +"""GARD:0005642""",aase-smith syndrome,"['aase-smith i syndrome', 'hydrocephalus-cleft palate-joint contractures syndrome']" +"""GARD:0005643""",dentatorubral pallidoluysian atrophy,"['drpla', 'dentatorubropallidoluysian atrophy', 'naito-oyanagi disease']" +"""GARD:0005644""","cardiomyopathy, dilated, 1e","['cardiomyopathy; dilated; with conduction disorder and arrhythmia', 'cardiomyopathy; dilated; with conduction defect 2']" +"""GARD:0005648""",photosensitive epilepsy,[] +"""GARD:0005653""",gliosarcoma,[] +"""GARD:0005654""",alveolar soft tissue sarcoma,"['asps', 'alveolar soft part sarcoma']" +"""GARD:0005657""",pfapa syndrome,"['marshall syndrome with periodic fever', 'periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome']" +"""GARD:0005658""",congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,"['cah due to 11-beta-hydroxylase deficiency', 'cyp11b1 deficiency']" +"""GARD:0005659""","46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","['17-beta-hydroxysteroid dehydrogenase 3 deficiency', '17-ketoreductase deficiency', '17-ketosteroidreductase deficiency']" +"""GARD:0005661""",d-2-hydroxyglutaric aciduria,"['d-2-hga', 'd-2-hydroxyglutaric acidemia']" +"""GARD:0005662""",3-hydroxyisobutyric aciduria,[] +"""GARD:0005663""",3-methylglutaconic aciduria type 3,"['autosomal recessive optic atrophy plus syndrome', 'autosomal recessive optic atrophy type 3', 'costeff optic atrophy syndrome', 'costeff syndrome', 'infantile optic atrophy with chorea and spastic paraplegia', 'mga3']" +"""GARD:0005665""",3-methylcrotonyl-coa carboxylase 1 deficiency,"['mcc1 deficiency', 'methylcrotonylglycinuria type i', 'mccd type 1', '3-methylcrotonylglycinuria i']" +"""GARD:0005666""",3c syndrome,"['craniocerebellocardiac dysplasia', 'ritscher-schinzel syndrome']" +"""GARD:0005667""",3m syndrome,"['3-m syndrome', 'yakut short stature syndrome']" +"""GARD:0005668""",hawkinsinuria,"['4-hppd deficiency', '4-alpha-hydroxyphenylpyruvate hydroxylase deficiency', '4-hydroxyphenylpyruvic acid dioxygenase deficiency']" +"""GARD:0005671""","46,xx gonadal dysgenesis","['46;xx complete gonadal dysgenesis', '46;xx ovarian dysgenesis', '46;xx pure gonadal dysgenesis', 'fsh-ro', 'follicular stimulating hormone-resistant ovaries', 'hypergonadotropic ovarian dysgenesis', 'xx female gonadal dysgenesis', 'xx-gd']" +"""GARD:0005672""",trisomy x,"['47;xxx syndrome', 'triple x syndrome', 'triplo-x syndrome', 'xxx syndrome']" +"""GARD:0005674""","47,xyy syndrome","['double y syndrome', 'xyy syndrome', 'y disomy']" +"""GARD:0005676""","48,xxxy syndrome",[] +"""GARD:0005677""","48,xxyy syndrome",[] +"""GARD:0005678""",pentasomy x,"['49;xxxxx syndrome', 'penta-x', 'poly-x']" +"""GARD:0005679""","49,xxxxy syndrome",[] +"""GARD:0005680""","46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency","['46;xy dsd due to 5-alpha-reductase 2 deficiency', 'pseudovaginal perineoscrotal hypospadias', 'steroid 5-alpha-reductase 2 deficiency']" +"""GARD:0005681""",5-oxoprolinase deficiency,['oxoprolinuria due to oxoprolinase deficiency'] +"""GARD:0005682""",6-pyruvoyl-tetrahydropterin synthase deficiency,['hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency'] +"""GARD:0005683""",smith-lemli-opitz syndrome,"['7-dehydrocholesterol reductase deficiency', 'rsh syndrome', 'slos']" +"""GARD:0005686""",glycogen storage disease due to muscle phosphofructokinase deficiency,"['gsd due to muscle phosphofructokinase deficiency', 'gsd type 7', 'gsd type vii', 'glycogen storage disease type 7', 'glycogen storage disease type vii', 'glycogenosis due to muscle phosphofructokinase deficiency', 'glycogenosis type 7', 'glycogenosis type vii', 'tarui disease']" +"""GARD:0005688""",temtamy syndrome,"['craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome', 'temtamy-shalash syndrome']" +"""GARD:0005691""",refsum disease,"['adult refsum disease', 'classic refsum disease', 'hmsn 4', 'hmsn iv', 'hereditary motor and sensory neuropathy type 4', 'hereditary motor and sensory neuropathy type iv', 'heredopathia atactica polyneuritiformis', 'phytanic-coa hydroxylase deficiency']" +"""GARD:0005692""",partial androgen insensitivity syndrome,"['pais', 'partial androgen resistance syndrome']" +"""GARD:0005693""",reactive arthritis,"['arthritis urethritica', 'fiessinger-leroy disease', 'polyarthritis enterica', 'venereal arthritis']" +"""GARD:0005694""",retinitis pigmentosa,[] +"""GARD:0005695""",retinopathy of prematurity,"['rop', 'retrolental fibroplasia']" +"""GARD:0005696""",rett syndrome,[] +"""GARD:0005697""","fibrosclerosis, multifocal","['mediastinal fibrosis; familial', 'retroperitoneal fibrosis; familial']" +"""GARD:0005699""",rheumatic fever,['acute rheumatic fever'] +"""GARD:0005701""",axenfeld-rieger syndrome,"['axenfeld syndrome', 'rieger syndrome']" +"""GARD:0005708""",idiopathic achalasia,"['achalasia cardia', 'idiopathic achalasia of esophagus', 'primary achalasia']" +"""GARD:0005714""",glycogen storage disease due to acid maltase deficiency,"['alpha-1;4-glucosidase acid deficiency', 'gsd due to acid maltase deficiency', 'gsd type 2', 'gsd type ii', 'glycogen storage disease type 2', 'glycogen storage disease type ii', 'glycogenosis due to acid maltase deficiency', 'glycogenosis type 2', 'glycogenosis type ii', 'pompe disease']" +"""GARD:0005721""",acrocallosal syndrome,['acs'] +"""GARD:0005723""",acrodermatitis enteropathica,"['aez', 'acrodermatitis enteropathica; zinc deficiency type', 'inherited zinc deficiency']" +"""GARD:0005724""",acrodysostosis,"['acrodysplasia', 'arkless-graham syndrome', 'maroteaux-malamut syndrome']" +"""GARD:0005725""",acromegaly,[] +"""GARD:0005727""",congenital isolated acth deficiency,[] +"""GARD:0005728""",actinomycosis,[] +"""GARD:0005732""",acute intermittent porphyria,[] +"""GARD:0005739""",adams-oliver syndrome,"['aos', 'congenital scalp defects with distal limb anomalies', 'congenital scalp defects with distal limb reduction anomalies', 'limb; scalp and skull defects']" +"""GARD:0005740""",addison disease,"['autoimmune addison disease', 'autoimmune adrenalitis', 'classic addison disease', 'primary addison disease']" +"""GARD:0005747""",ameloblastoma,[] +"""GARD:0005748""",severe combined immunodeficiency due to adenosine deaminase deficiency,"['ada deficiency', 'scid due to adenosine deaminase deficiency']" +"""GARD:0005749""",holmes-adie syndrome,"['adie syndrome', 'tonic pupil-tendon areflexia syndrome']" +"""GARD:0005750""",adiposis dolorosa,"['adiposalgia', 'adipose tissue rheumatism', 'dercum disease', 'lipomatosis dolorosa']" +"""GARD:0005758""",x-linked adrenoleukodystrophy,"['ald', 'x-ald', 'x-linked ald']" +"""GARD:0005761""",familial afibrinogenemia,[] +"""GARD:0005764""",aicardi syndrome,['agenesis of corpus callosum with chorioretinal abnormality'] +"""GARD:0005770""",pseudohypoparathyroidism with albright hereditary osteodystrophy,[] +"""GARD:0005774""",alexander disease,['axd'] +"""GARD:0005775""",alkaptonuria,"['hereditary ochronosis', 'homogentisic acid oxidase deficiency']" +"""GARD:0005783""",alpers-huttenlocher syndrome,"['alpers progressive sclerosing poliodystrophy', 'alpers syndrome', 'progressive neuronal degeneration of childhood with liver disease']" +"""GARD:0005784""",alpha-1-antitrypsin deficiency,"['alpha-1-proteinase inhibitor deficiency', 'alpha1-antitrypsin deficiency']" +"""GARD:0005785""",alport syndrome,"['alport deafness-nephropathy', 'alport hearing loss-nephropathy']" +"""GARD:0005786""",amyotrophic lateral sclerosis,"['als', 'charcot disease', 'lou gehrig disease']" +"""GARD:0005787""",alström syndrome,[] +"""GARD:0005791""",amelogenesis imperfecta,[] +"""GARD:0005797""",al amyloidosis,"['light-chain amyloidosis', 'primary amyloidosis']" +"""GARD:0005802""",otopalatodigital syndrome type 2,"['opd ii syndrome', 'opd syndrome 2']" +"""GARD:0005803""",androgen insensitivity syndrome,"['ais', 'androgen resistance syndrome', 'goldberg-maxwell syndrome', 'morris syndrome', 'testicular feminization syndrome']" +"""GARD:0005808""",isolated anencephaly/exencephaly,[] +"""GARD:0005810""",angelman syndrome,[] +"""GARD:0005816""",isolated aniridia,[] +"""GARD:0005818""",anodontia,[] +"""GARD:0005819""",testicular agenesis,['bilateral anorchia'] +"""GARD:0005824""",antiphospholipid syndrome,"['apls', 'antiphospholipid antibody syndrome', 'classic apls', 'classic antiphospholipid syndrome', 'hughes syndrome']" +"""GARD:0005826""",antley-bixler syndrome,[] +"""GARD:0005828""",aorta coarctation,[] +"""GARD:0005833""",apert syndrome,"['acs1', 'acrocephalosyndactyly type 1']" +"""GARD:0005835""",aplasia cutis congenita,[] +"""GARD:0005836""",idiopathic aplastic anemia,['idiopathic bone marrow failure'] +"""GARD:0005839""",arachnoiditis,"['adhesive arachnoiditis', 'chronic arachnoiditis']" +"""GARD:0005840""",argininemia,"['arginase deficiency', 'hyperargininemia']" +"""GARD:0005843""",argininosuccinic aciduria,"['asa deficiency', 'asl deficiency', 'argininosuccinase deficiency', 'argininosuccinatelyase deficiency', 'argininosuccinic acid lyase deficiency']" +"""GARD:0005847""",arrhythmogenic right ventricular cardiomyopathy,"['arvc', 'arvd', 'arrhythmogenic right ventricular dysplasia']" +"""GARD:0005852""",asbestos intoxication,['asbestosis'] +"""GARD:0005853""",asherman syndrome,[] +"""GARD:0005854""",aspartylglucosaminuria,['aspartylglucosaminidase deficiency'] +"""GARD:0005856""",aspergillosis,[] +"""GARD:0005860""",anaplastic astrocytoma,[] +"""GARD:0005862""",ataxia-telangiectasia,['louis-bar syndrome'] +"""GARD:0005864""",alpha-thalassemia-x-linked intellectual disability syndrome,['atr-x syndrome'] +"""GARD:0005865""","atrial septal defect, ostium secundum type",['asd; ostium secundum type'] +"""GARD:0005867""",localized lipodystrophy,[] +"""GARD:0005870""",autoimmune hemolytic anemia,"['aha', 'aiha']" +"""GARD:0005871""",autoimmune hepatitis,['aih'] +"""GARD:0005878""",babesiosis,[] +"""GARD:0005885""",baló concentric sclerosis,['concentric demyelination'] +"""GARD:0005887""",bannayan-riley-ruvalcaba syndrome,"['brrs', 'myhre-riley-smith syndrome']" +"""GARD:0005890""",barth syndrome,"['3-methylglutaconic aciduria type 2', 'bths', 'cardioskeletal myopathy with neutropenia and abnormal mitochondria', 'cardioskeletal myopathy-neutropenia syndrome', 'mga2', 'x-linked cardioskeletal myopathy and neutropenia']" +"""GARD:0005893""",bartter syndrome,"['renal tubular normotensive hypokalemic alkalosis with hypercalciuria', ""salt-losing tubular disorder; henle's loop type"", ""salt-wasting tubulopathy; henle's loop type""]" +"""GARD:0005897""",cln3 disease,"['classic juvenile ncl', 'classic juvenile neuronal ceroid lipofuscinosis']" +"""GARD:0005898""",congenital myopathy,[] +"""GARD:0005899""",congenital contractural arachnodactyly,"['beals syndrome', 'beals-hecht syndrome', 'cca syndrome', 'distal arthrogryposis type 9']" +"""GARD:0005900""",becker muscular dystrophy,"['bmd', 'becker dystrophinopathy']" +"""GARD:0005907""",diffuse astrocytoma,[] +"""GARD:0005913""",mucous membrane pemphigoid,"['cicatricial pemphigoid', 'mucosal pemphigoid', 'mucosynechial pemphigoid']" +"""GARD:0005926""",birdshot chorioretinopathy,"['birdshot chorioretinitis', 'birdshot retinochoroiditis', 'birdshot retinochoroidopathy', 'vitiliginous choroiditis']" +"""GARD:0005939""",blue diaper syndrome,"['drummond syndrome', 'familial hypercalcemia-nephrocalcinosis-indicanuria syndrome']" +"""GARD:0005940""",blue rubber bleb nevus,"['brbn', 'bean syndrome']" +"""GARD:0005950""",bowen-conradi syndrome,['bowen syndrome; hutterite type'] +"""GARD:0005961""",bronchiolitis obliterans with obstructive pulmonary disease,"['constrictive bronchiolitis', 'obliterative bronchiolitis']" +"""GARD:0005962""",bronchopulmonary dysplasia,['bpd'] +"""GARD:0005966""",brucellosis,[] +"""GARD:0005968""",budd-chiari syndrome,[] +"""GARD:0005969""",buerger disease,['thromboangiitis obliterans'] +"""GARD:0005972""",bullous pemphigoid,[] +"""GARD:0005973""",burkitt lymphoma,['small non-cleaved cell lymphoma'] +"""GARD:0005974""",burning mouth syndrome,"['bms', 'oral dysesthesia', 'orodynia', 'stomatodynia', 'stomatopyrosis']" +"""GARD:0005975""",scleredema,['buschke scleredema'] +"""GARD:0005978""",c syndrome,"['otcs', 'opitz c trigonocephaly', 'opitz trigonocephaly c syndrome', 'opitz trigonocephaly syndrome', 'trigonocephaly c syndrome']" +"""GARD:0005979""",hereditary angioedema,"['familial angioneurotic edema', 'hae', 'hereditary angioneurotic edema', 'hereditary bradykinine-induced angioedema', 'hereditary non histamine-induced angioedema']" +"""GARD:0005980""",calciphylaxis,[] +"""GARD:0005984""",canavan disease,"['acy2 deficiency', 'aminoacylase 2 deficiency', 'aspartoacylase deficiency', 'spongy degeneration of the brain']" +"""GARD:0005993""","osteopetrosis, autosomal recessive 4",['osteopetrosis; infantile malignant 2'] +"""GARD:0005994""",carcinoid syndrome,['malignant carcinoid syndrome'] +"""GARD:0006001""",carnosinase deficiency,[] +"""GARD:0006002""",caroli disease,[] +"""GARD:0006003""",carpenter syndrome,"['acps2', 'acrocephalopolysyndactyly type 2']" +"""GARD:0006005""",unicentric castleman disease,['localized castleman disease'] +"""GARD:0006007""",caudal regression syndrome,"['caudal dysgenesis syndrome', 'caudal dysplasia', 'caudal regression sequence']" +"""GARD:0006010""",macrocystic lymphatic malformation,"['cavernous lymphangioma', 'cavernous lymphatic malformation', 'macrocystic lymphangioma']" +"""GARD:0006011""",bilateral perisylvian polymicrogyria,[] +"""GARD:0006014""",central core disease,[] +"""GARD:0006015""",central diabetes insipidus,"['cdi', 'neurogenic diabetes insipidus']" +"""GARD:0006026""",cerebrocostomandibular syndrome,[] +"""GARD:0006027""",cofs syndrome,"['cerebrooculofacioskeletal syndrome', 'pena-shokeir syndrome type 2']" +"""GARD:0006033""",chandler syndrome,[] +"""GARD:0006034""",charcot-marie-tooth disease/hereditary motor and sensory neuropathy,"['cmt/hmsn', 'charcot-marie-tooth hereditary neuropathy']" +"""GARD:0006035""",chédiak-higashi syndrome,"['chédiak-higashi disease', 'chédiak-higashi-steinbrink syndrome']" +"""GARD:0006036""",cherubism,['crbm'] +"""GARD:0006038""",chikungunya,[] +"""GARD:0006039""",child syndrome,"['child nevus', 'congenital hemidysplasia with ichthyosiform nevus and limbs defects']" +"""GARD:0006040""",childhood disintegrative disorder,"['dementia infantilis', 'heller syndrome']" +"""GARD:0006043""",cholera,[] +"""GARD:0006048""",chondrocalcinosis 1,[] +"""GARD:0006049""",rhizomelic chondrodysplasia punctata type 1,[] +"""GARD:0006055""",chondrosarcoma,[] +"""GARD:0006061""",choroideremia,"['chm', 'tapetochoroidal dystrophy']" +"""GARD:0006064""",chromophobe renal cell carcinoma,['chromophobe renal cell adenocarcinoma'] +"""GARD:0006069""",ring chromosome 13 syndrome,"['ring 13', 'ring chromosome 13']" +"""GARD:0006072""",ring chromosome 14 syndrome,"['ring 14', 'ring chromosome 14']" +"""GARD:0006077""",ring chromosome 18 syndrome,"['ring 18', 'ring chromosome 18']" +"""GARD:0006082""",1p36 deletion syndrome,"['del(1)(p36)', 'deletion 1p36', 'deletion 1pter', 'monosomy 1p36', 'monosomy 1pter', 'subtelomeric 1p36 deletion']" +"""GARD:0006083""",ring chromosome 21 syndrome,[] +"""GARD:0006085""",mosaic trisomy 22,"['mosaic trisomy chromosome 22', 'trisomy 22 mosaicism']" +"""GARD:0006091""",trisomy 4p,"['duplication 4p', 'duplication of the short arm of chromosome 4', 'trisomy of the short arm of chromosome 4']" +"""GARD:0006093""",trisomy 5p,"['duplication 5p', 'duplication of the short arm of chromosome 5', 'trisomy of the short arm of chromosome 5']" +"""GARD:0006095""",ring chromosome 6 syndrome,"['ring 6', 'ring chromosome 6']" +"""GARD:0006100""",chronic granulomatous disease,"['cgd', 'chronic septic granulomatosis']" +"""GARD:0006102""",chronic inflammatory demyelinating polyneuropathy,"['cidp', 'chronic inflammatory demyelinating polyradiculoneuropathy']" +"""GARD:0006104""",b-cell chronic lymphocytic leukemia,"['b-cll', 'b-cell chronic lymphoid leukemia', 'small lymphocytic lymphoma']" +"""GARD:0006105""",chronic myeloid leukemia,"['cml', 'chronic granulocytic leukemia', 'chronic myelogenous leukemia']" +"""GARD:0006107""","neutropenia, lethal congenital, with eosinophilia",[] +"""GARD:0006108""",chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis,['cno/crmo'] +"""GARD:0006111""",eosinophilic granulomatosis with polyangiitis,"['churg-strauss syndrome', 'egpa', 'granulomatous allergic angiitis']" +"""GARD:0006114""",citrullinemia type i,"['ass deficiency', 'argininosuccinate synthase deficiency', 'argininosuccinate synthetase deficiency', 'argininosuccinic acid synthase deficiency', 'argininosuccinic acid synthetase deficiency', 'ctln1', 'citrullinemia type 1', 'classic citrullinemia']" +"""GARD:0006118""",cleidocranial dysplasia,['cleidocranial dysostosis'] +"""GARD:0006121""",coats disease,"['congenital retinal telangiectasia', 'leber miliary aneurysm']" +"""GARD:0006122""",cockayne syndrome,[] +"""GARD:0006123""",coffin-lowry syndrome,['cls'] +"""GARD:0006124""",coffin-siris syndrome,['css'] +"""GARD:0006125""",cogan-reese syndrome,[] +"""GARD:0006126""",cohen syndrome,[] +"""GARD:0006130""",cold agglutinin disease,"['cad', 'cas', 'chronic cold agglutinin disease', 'cold agglutinin syndrome']" +"""GARD:0006140""",common variable immunodeficiency,"['cvid', 'idiopathic immunoglobulin deficiency', 'primary antibody deficiency', 'primary hypogammaglobulinemia']" +"""GARD:0006145""",cone-rod dystrophy 2,"['retinal cone-rod dystrophy', 'cone-rod retinal dystrophy', 'cone-rod dystrophy']" +"""GARD:0006148""",hereditary thrombophilia due to congenital antithrombin deficiency,['hereditary thrombophilia due to congenital antithrombin 3 deficiency'] +"""GARD:0006161""",congenital fiber-type disproportion myopathy,['cftdm'] +"""GARD:0006164""",congenital heart block,['congenital atrioventricular block'] +"""GARD:0006168""",polycystic kidney disease 4 with or without polycystic liver disease,"['pkd3; formerly', 'polycystic kidney disease 4 with or without hepatic disease', 'polycystic kidney and hepatic disease 1', 'polycystic kidney disease; infantile; type i', 'polycystic kidney disease; autosomal recessive']" +"""GARD:0006169""",hepatoerythropoietic porphyria,['hep'] +"""GARD:0006176""","myotonia congenita, autosomal dominant",['thomsen disease'] +"""GARD:0006189""",x-linked dominant chondrodysplasia punctata,"['cdpx2', 'cdpxd', 'cpxd', 'chondrodystrophia calcificans congenita', 'conradi-hünermann-happle syndrome', 'x-linked chondrodysplasia punctata type 2']" +"""GARD:0006194""",triatrial heart,['cor triatriatum'] +"""GARD:0006196""",congenital hereditary endothelial dystrophy type ii,"['autosomal recessive ched', 'autosomal recessive congenital hereditary endothelial dystrophy', 'ched2', 'chedii', 'congenital hereditary endothelial dystrophy type 2', 'infantile hereditary endothelial dystrophy', 'maumenee corneal dystrophy']" +"""GARD:0006202""",cowden syndrome,"['cowden disease', 'multiple hamartoma syndrome']" +"""GARD:0006205""",cramp-fasciculation syndrome,[] +"""GARD:0006206""",crouzon syndrome,['crouzon craniofacial dysostosis'] +"""GARD:0006209""",craniosynostosis,[] +"""GARD:0006213""",monosomy 5p,"['cri du chat syndrome', 'deletion 5p']" +"""GARD:0006217""",simple cryoglobulinemia,['cryoglobulinemia type 1'] +"""GARD:0006218""",cryptococcosis,[] +"""GARD:0006224""",cushing syndrome,"['hyperadrenocorticism', 'hypercortisolism']" +"""GARD:0006225""",rare cutaneous lupus erythematosus,[] +"""GARD:0006226""",primary cutaneous t-cell lymphoma,[] +"""GARD:0006227""",cutis laxa,[] +"""GARD:0006228""",cutis marmorata telangiectatica congenita,['cmtc'] +"""GARD:0006229""",cyclic neutropenia,[] +"""GARD:0006233""",cystic fibrosis,"['cf', 'mucoviscidosis']" +"""GARD:0006236""",cystinosis,['protein defect of cystin transport'] +"""GARD:0006237""",cystinuria,['cystinuria-lysinuria syndrome'] +"""GARD:0006242""",isolated dandy-walker malformation,[] +"""GARD:0006243""",darier disease,"['darier-white disease', 'keratosis follicularis']" +"""GARD:0006249""",malignant atrophic papulosis,"['degos disease', 'köhlmeier-degos disease', 'köhlmeier-degos-delort-tricort syndrome', 'papulosis atrophican maligna']" +"""GARD:0006254""",dengue fever,"['df', 'dengue virus infection']" +"""GARD:0006258""",dentinogenesis imperfecta,"['dgi', 'dgi without oi', 'di', 'dentinogenesis imperfecta without osteogenesis imperfecta', 'non-syndromic dgi', 'non-syndromic dentinogenesis imperfecta', 'opalescent teeth without oi', 'opalescent teeth without osteogenesis imperfecta']" +"""GARD:0006263""",dermatomyositis,['adult dermatomyositis'] +"""GARD:0006265""",desmoplastic small round cell tumor,['dsrct'] +"""GARD:0006267""",neuromyelitis optica spectrum disorder,"['devic disease', 'nmosd']" +"""GARD:0006274""",blackfan-diamond anemia,"['aase syndrome', 'aase-smith ii syndrome', 'congenital prca', 'congenital hypoplastic anemia; blackfan-diamond type', 'congenital pure red cell aplasia', 'diamond-blackfan anemia']" +"""GARD:0006275""",diastrophic dysplasia,['diastrophic dwarfism'] +"""GARD:0006276""",diencephalic syndrome,"['diencephalic cachexia', 'diencephalic syndrome of childhood', 'diencephalic syndrome of emaciation', 'russell diencephalic cachexia', 'russell syndrome']" +"""GARD:0006286""",dracunculiasis,"['dracunculosis', 'guinea worm disease', 'medina worm disease', 'medinensis']" +"""GARD:0006288""",duane retraction syndrome,"['drs', 'durs', 'duane syndrome', 'stilling-turk-duane syndrome']" +"""GARD:0006290""",dubowitz syndrome,[] +"""GARD:0006291""",duchenne muscular dystrophy,"['dmd', 'severe dystrophinopathy; duchenne type']" +"""GARD:0006295""",dyggve-melchior-clausen disease,[] +"""GARD:0006299""","dyskeratosis congenita, autosomal dominant 1",['dyskeratosis congenita; scoggins type'] +"""GARD:0006300""","dyskeratosis congenita, autosomal recessive 1",[] +"""GARD:0006308""","autosomal recessive generalized dystrophic epidermolysis bullosa, severe form","['autosomal recessive dystrophic epidermolysis bullosa generalisata gravis', 'autosomal recessive dystrophic epidermolysis bullosa; hallopeau-siemens type', 'generalized rdeb; severe form', 'rdeb generalisata gravis', 'rdeb; hallopeau-siemens type', 'severe generalized rdeb']" +"""GARD:0006309""",eales disease,"['idiopathic retinal perivasculitis', 'idiopathic retinal vasculitis']" +"""GARD:0006313""",ebstein malformation of the tricuspid valve,['ebstein anomaly of the tricuspid valve'] +"""GARD:0006317""",ectodermal dysplasia syndrome,['ectodermal dysplasia'] +"""GARD:0006319""",isolated split hand-split foot malformation,"['ectrodactyly', 'shfm', 'split hand foot malformation']" +"""GARD:0006321""",trisomy 18,"['chromosome 18 duplication', 'edwards syndrome']" +"""GARD:0006322""",ehlers-danlos syndrome,['eds'] +"""GARD:0006323""",eisenmenger syndrome,[] +"""GARD:0006329""",emery-dreifuss muscular dystrophy,['edmd'] +"""GARD:0006332""",encephalitis lethargica,['von economo encephalitis'] +"""GARD:0006333""",isolated encephalocele,[] +"""GARD:0006336""",endocardial fibroelastosis,['endomyocardial fibroelastosis'] +"""GARD:0006337""",infective endocarditis,"['bacterial endocarditis', 'infectious endocarditis']" +"""GARD:0006339""",endometrial stromal sarcoma,['stromal sarcoma of the corpus uteri'] +"""GARD:0006351""",eosinophilic fasciitis,"['diffuse fasciitis with eosinophilia', 'shulman syndrome']" +"""GARD:0006353""",ependymoma,['classic ependymoma'] +"""GARD:0006357""",epidermodysplasia verruciformis,"['lewandowsky-lutz syndrome', 'lutz-lewandowsky epidermodysplasia verruciformis']" +"""GARD:0006360""",epidermolysis bullosa acquisita,['acquired epidermolysis bullosa'] +"""GARD:0006369""",erdheim-chester disease,[] +"""GARD:0006377""",primary erythromelalgia,['primary erythermalgia'] +"""GARD:0006381""",esophageal atresia,[] +"""GARD:0006383""",carcinoma of esophagus,['esophageal carcinoma'] +"""GARD:0006386""",cryoglobulinemic vasculitis,"['essential cryoglobulinemia', 'essential mixed cryoglobulinemia', 'mixed cryoglobulinemia', 'primary cryoglobulinemia']" +"""GARD:0006389""",evans syndrome,"['autoimmune hemolytic anemia and autoimmune thrombocytopenia', 'immune pancytopenia']" +"""GARD:0006390""",skeletal ewing sarcoma,['osseous ewing sarcoma'] +"""GARD:0006398""",bladder exstrophy,['classic exstrophy of the bladder'] +"""GARD:0006400""",fabry disease,"['alpha-galactosidase a deficiency', 'anderson-fabry disease', 'angiokeratoma corporis diffusum', 'diffuse angiokeratoma', 'fd']" +"""GARD:0006404""",congenital factor x deficiency,"['congenital stuart factor deficiency', 'stuart-prower factor deficiency']" +"""GARD:0006405""",acquired hemophilia a,"['aha', 'acquired f8 deficiency', 'acquired factor viii deficiency']" +"""GARD:0006406""",bilateral striopallidodentate calcinosis,"['bspdc', 'cerebrovascular ferrocalcinosis', 'idiopathic basal ganglia calcification', 'pfbc', 'primary familial brain calcification']" +"""GARD:0006408""",familial adenomatous polyposis,"['colorectal adenomatous polyposis', 'fap', 'familial polyposis coli']" +"""GARD:0006414""",familial chylomicronemia syndrome,[] +"""GARD:0006421""",familial mediterranean fever,"['benign paroxysmal peritonitis', 'benign recurrent polyserositis', 'fmf', 'familial paroxysmal polyserositis', 'periodic disease']" +"""GARD:0006425""",fanconi anemia,['fanconi pancytopenia'] +"""GARD:0006426""",farber disease,"['acid ceramidase deficiency', 'farber lipogranulomatosis']" +"""GARD:0006427""",farmer's lung disease,[] +"""GARD:0006429""",fatal familial insomnia,[] +"""GARD:0006435""",fetal hydantoin syndrome,"['fetal dihydantoin syndrome', 'phenytoin embryofetopathy']" +"""GARD:0006444""",fibrous dysplasia of bone,[] +"""GARD:0006445""",fibrodysplasia ossificans progressiva,"['fop', 'myositis ossificans progressiva', 'stone man syndrome']" +"""GARD:0006447""",severe primary trimethylaminuria,['tmau'] +"""GARD:0006450""",fish-eye disease,"['fed', 'partial lcat deficiency']" +"""GARD:0006455""",floating-harbor syndrome,[] +"""GARD:0006457""",focal dermal hypoplasia,"['goltz syndrome', 'goltz-gorlin syndrome']" +"""GARD:0006464""",fragile x syndrome,"['fraxa syndrome', 'fxs', 'frax syndrome', 'martin-bell syndrome']" +"""GARD:0006465""",fraser syndrome,['cryptophthalmos-syndactyly syndrome'] +"""GARD:0006466""",freeman-sheldon syndrome,"['craniocarpotarsal dysplasia', 'craniocarpotarsal dystrophy', 'distal arthrogryposis type 2a', 'freeman-burian syndrome', 'whistling face syndrome']" +"""GARD:0006468""",friedreich ataxia,"['fa', 'frda']" +"""GARD:0006471""",essential fructosuria,"['fructokinase deficiency', 'ketohexokinase deficiency']" +"""GARD:0006473""",fucosidosis,['alpha-l-fucosidase deficiency'] +"""GARD:0006475""","congenital muscular dystrophy, fukuyama type","['fcmd', 'fktn-related congenital muscular dystrophy', 'fukuyama congenital muscular dystrophy']" +"""GARD:0006476""",fumaric aciduria,['fumarase deficiency'] +"""GARD:0006479""",gm1 gangliosidosis type 1,"['infantile gm1 gangliosidosis', 'norman-landing disease']" +"""GARD:0006481""",autoerythrocyte sensitization syndrome,"['gds', 'gardner-diamond syndrome', 'painful bruising syndrome', 'psychogenic purpura']" +"""GARD:0006482""",gardner syndrome,[] +"""GARD:0006485""",malt lymphoma,"['extranodal marginal zone b-cell lymphoma', 'maltoma', 'mucosa-associated lymphatic tissue lymphoma', 'mucosa-associated lymphoid tissue lymphoma']" +"""GARD:0006497""",pemphigoid gestationis,['gestational pemphigoid'] +"""GARD:0006498""",gestational trophoblastic neoplasm,['gtn'] +"""GARD:0006500""",giant axonal neuropathy,['gan'] +"""GARD:0006506""",pituitary gigantism,"['hypophyseal gigantism', 'infantile and juvenile forms of acromegaly']" +"""GARD:0006509""","fibromatosis, gingival, 1","['fibromatosis; gingival; hereditary', 'ggf1', 'gingf']" +"""GARD:0006513""",glial tumor,['glioma'] +"""GARD:0006514""",gliomatosis cerebri,[] +"""GARD:0006519""",glossopharyngeal neuralgia,[] +"""GARD:0006520""",class i glucose-6-phosphate dehydrogenase deficiency,"['class i g6pd deficiency', 'severe hemolytic anemia due to g6pd deficiency']" +"""GARD:0006521""",glucose-galactose malabsorption,['sglt1 deficiency'] +"""GARD:0006522""",glutaryl-coa dehydrogenase deficiency,"['ga1', 'gcdhd', 'glutaric acidemia type 1', 'glutaric aciduria type 1', 'glutaryl-coenzyme a dehydrogenase deficiency']" +"""GARD:0006523""",multiple acyl-coa dehydrogenase deficiency,"['glutaric acidemia type 2', 'glutaric aciduria type 2', 'mad deficiency', 'madd']" +"""GARD:0006528""",glycogen storage disease due to muscle glycogen phosphorylase deficiency,"['gsd due to muscle glycogen phosphorylase deficiency', 'gsd type 5', 'gsd type v', 'glycogen storage disease type 5', 'glycogen storage disease type v', 'glycogenosis due to muscle glycogen phosphorylase deficiency', 'glycogenosis type 5', 'glycogenosis type v', 'mcardle disease', 'myophosphorylase deficiency']" +"""GARD:0006529""",glycogen storage disease due to liver glycogen phosphorylase deficiency,"['gsd due to liver glycogen phosphorylase deficiency', 'gsd type 6', 'gsd type vi', 'glycogen storage disease type 6', 'glycogen storage disease type vi', 'glycogenosis due to liver glycogen phosphorylase deficiency', 'glycogenosis type 6', 'glycogenosis type vi', 'hepatic glycogen phosphorylase deficiency', 'hepatic phosphorylase deficiency', 'hers disease', 'liver glycogen phosphorylase deficiency']" +"""GARD:0006542""",gorham-stout disease,"['gorham disease', 'gorham syndrome', 'idiopathic massive osteolysis', 'progressive massive osteolysis', 'vanishing bone disease']" +"""GARD:0006543""",acrogeria,"['acrogeria; gottron type', 'acrometageria', 'gottron syndrome']" +"""GARD:0006544""",acute graft versus host disease,[] +"""GARD:0006550""",greig cephalopolysyndactyly syndrome,['gcps'] +"""GARD:0006554""",guillain-barré syndrome,"['gbs', 'guillain-barré-strohl syndrome']" +"""GARD:0006556""",gyrate atrophy of choroid and retina,"['hoga', 'hyperornithinemia', 'hyperornithinemia-gyrate atrophy of choroid and retina syndrome', 'ornithine aminotransferase deficiency']" +"""GARD:0006558""",congenital factor xii deficiency,['congenital hageman factor deficiency'] +"""GARD:0006559""",familial benign chronic pemphigus,"['benign chronic familial pemphigus of hailey-hailey', 'hailey-hailey disease']" +"""GARD:0006560""",classic hairy cell leukemia,"['hcl-c', 'leukemic reticuloendotheliosis']" +"""GARD:0006564""",pantothenate kinase-associated neurodegeneration,"['hallervorden-spatz syndrome', 'nbia1', 'neurodegeneration with brain iron accumulation type 1', 'pkan']" +"""GARD:0006568""",harlequin ichthyosis,"['hi', 'ichthyosis congenita; harlequin type', 'ichthyosis fetalis; harlequin type']" +"""GARD:0006569""",hartnup disease,"['aminoaciduria; hartnup type', 'hartnup disorder']" +"""GARD:0006571""",ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,"['aec syndrome', 'hay-wells syndrome']" +"""GARD:0006584""",sickle cell-hemoglobin c disease syndrome,['hbsc disease'] +"""GARD:0006588""",shiga toxin-associated hemolytic uremic syndrome,"['d+ hus', 'ehec-hus', 'hemolytic uremic syndrome associated with shiga toxin-producing escherichia coli', 'hemolytic uremic syndrome with diarrhea', 'stec-hus', 'shiga-like toxin-associated hus', 'stx-hus', 'typical hus', 'typical hemolytic uremic syndrome']" +"""GARD:0006589""",familial hemophagocytic lymphohistiocytosis,['familial hlh'] +"""GARD:0006591""",hemophilia a,"['congenital f8 deficiency', 'congenital fviii deficiency', 'congenital factor viii deficiency']" +"""GARD:0006594""",essential thrombocythemia,"['et', 'essential thrombocytosis']" +"""GARD:0006608""",adult hepatocellular carcinoma,['adult hcc'] +"""GARD:0006611""",hereditary amyloidosis,[] +"""GARD:0006618""",cln9 disease,[] +"""GARD:0006619""",hereditary coproporphyria,[] +"""GARD:0006621""",hereditary elliptocytosis,['he'] +"""GARD:0006622""",hereditary fructose intolerance,"['hereditary fructose-1-phosphate aldolase deficiency', 'hereditary fructosemia']" +"""GARD:0006626""",hereditary hemorrhagic telangiectasia,"['hht', 'rendu-osler disease', 'rendu-osler-weber disease']" +"""GARD:0006632""",hereditary chronic pancreatitis,[] +"""GARD:0006635""",hereditary sensory and autonomic neuropathy type 1,"['hsan1', 'hereditary sensory and autonomic neuropathy type i']" +"""GARD:0006637""",hereditary spastic paraplegia,"['familial spastic paraplegia', 'hsp', 'hereditary spastic paraparesis', 'spg', 'strümpell-lorrain disease']" +"""GARD:0006639""",hereditary spherocytosis,['minkowski-chauffard disease'] +"""GARD:0006643""",hermansky-pudlak syndrome,['hps'] +"""GARD:0006649""",herpes simplex virus encephalitis,"['hse', 'hsv encephalitis', 'hsve', 'herpes simplex meningo-encephalitis', 'herpes simplex neuroinvasion', 'herpetic encephalitis']" +"""GARD:0006657""",chronic hiccup,[] +"""GARD:0006660""",hirschsprung disease,"['aganglionic megacolon', 'colonic aganglionosis', 'congenital intestinal aganglionosis', 'hscr']" +"""GARD:0006661""",histidinemia,"['hal deficiency', 'his deficiency', 'histidase deficiency', 'histidine ammonia-lyase deficiency', 'histidinuria', 'hyperhistidinemia']" +"""GARD:0006665""",holoprosencephaly,['hpe'] +"""GARD:0006666""",holt-oram syndrome,"['atriodigital dysplasia type 1', 'hos', 'heart-hand syndrome type 1']" +"""GARD:0006667""",classic homocystinuria,"['cystathionine beta-synthase deficiency', 'homocystinuria due to cystathionine beta-synthase deficiency']" +"""GARD:0006670""",congenital horner syndrome,['congenital claude-bernard-horner syndrome'] +"""GARD:0006675""",mucopolysaccharidosis type 2,"['hunter syndrome', 'iduronate 2-sulfatase deficiency', 'mps2', 'mpsii', 'mucopolysaccharidosis type ii']" +"""GARD:0006677""",huntington disease,['huntington chorea'] +"""GARD:0006681""",hydranencephaly,[] +"""GARD:0006682""",congenital hydrocephalus,[] +"""GARD:0006683""",hydrolethalus,[] +"""GARD:0006703""",dysbetalipoproteinemia,"['broad-beta disease', 'familial dyslipidemia type 3', 'hlp type 3', 'hyperlipidemia type 3', 'hyperlipoproteinemia type 3', 'remnant hyperlipoproteinemia']" +"""GARD:0006704""",familial apolipoprotein a5 deficiency,"['familial apoa5 deficiency', 'familial apolipoprotein a-v deficiency']" +"""GARD:0006710""",hyperprolinemia type 2,['delta-1-pyrroline-5-carboxylate dehydrogenase deficiency'] +"""GARD:0006724""",hypochondroplasia,[] +"""GARD:0006725""",hypocomplementemic urticarial vasculitis,"['anti-c1q vasculitis', 'mac duffie hypocomplementemic urticarial vasculitis', 'mac duffie syndrome', 'mcduffie hypocomplementemic urticarial vasculitis', 'mcduffie syndrome']" +"""GARD:0006729""",hypokalemic periodic paralysis,['westphall disease'] +"""GARD:0006734""",hypophosphatasia,"['hpp', 'phosphoethanolaminuria', 'rathbun disease']" +"""GARD:0006735""",hypophosphatemic rickets,[] +"""GARD:0006737""","panhypopituitarism, x-linked",['pituitary dwarfism iv; formerly'] +"""GARD:0006739""",hypoplastic left heart syndrome,['hlhs'] +"""GARD:0006749""",mucolipidosis type ii,"['i-cell disease', 'mucolipidosis type ii alpha/beta', 'n-acetylglucosamine 1-phosphotransferase deficiency']" +"""GARD:0006757""",idiopathic pulmonary artery dilatation,[] +"""GARD:0006760""",idiopathic juvenile osteoporosis,"['ijo', 'juvenile osteoporosis']" +"""GARD:0006763""",idiopathic pulmonary hemosiderosis,[] +"""GARD:0006778""",incontinentia pigmenti,"['bloch-siemens syndrome', 'bloch-sulzberger syndrome']" +"""GARD:0006779""",infantile apnea,"['apnea in full-term infants', 'apnea of infancy']" +"""GARD:0006791""",fuchs heterochromic iridocyclitis,['fhi'] +"""GARD:0006793""",isaacs syndrome,"['continuous muscle fiber activity syndrome', 'isaacs-mertens syndrome', 'quantal squander syndrome']" +"""GARD:0006795""",right sided atrial isomerism,"['isomerism of right atrial appendage', 'ivemark syndrome', 'rai']" +"""GARD:0006796""",jackson-weiss syndrome,"['craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome', 'jws']" +"""GARD:0006797""",japanese encephalitis,[] +"""GARD:0006798""",autosomal recessive spondylocostal dysostosis,['jarcho-levin syndrome'] +"""GARD:0006800""",autosomal dominant hyper-ige syndrome,"['ad-hies', 'autosomal dominant hies', 'autosomal dominant hyperimmunoglobulin e syndrome', 'buckley syndrome', 'hyperimmunoglobulin e syndrome type 1', 'hyperimmunoglobulin e-recurrent infection syndrome', 'job syndrome', 'stat3 deficiency']" +"""GARD:0006801""",spinocerebellar ataxia type 3,"['azorean disease of the nervous system', 'mjd', 'machado disease', 'machado-joseph disease', 'nigro-spino-dentatal degeneration with nuclear ophthalmoplegia', 'sca3']" +"""GARD:0006802""",joubert syndrome,"['cpd iv', 'cerebelloparenchymal disorder iv', 'classic joubert syndrome', 'joubert syndrome type a', 'joubert-boltshauser syndrome', 'pure joubert syndrome']" +"""GARD:0006805""",juvenile dermatomyositis,['juvenile dm'] +"""GARD:0006807""",infantile systemic hyalinosis,[] +"""GARD:0006808""",juvenile myoclonic epilepsy,"['jme', 'juvenile myoclonus epilepsy']" +"""GARD:0006810""",kabuki syndrome,"['kabuki make-up syndrome', 'niikawa-kuroki syndrome']" +"""GARD:0006814""",kaposi sarcoma,[] +"""GARD:0006816""",kawasaki disease,['mucocutaneous lymph node syndrome'] +"""GARD:0006817""",kearns-sayre syndrome,[] +"""GARD:0006818""",kennedy disease,"['sbma', 'smax1', 'x-linked bsma', 'x-linked bulbospinal amyotrophy', 'x-linked bulbospinal muscular atrophy', 'x-linked spinal and bulbar muscular atrophy']" +"""GARD:0006821""",muir-torre syndrome,['multiple keratoacanthoma; muir-torre type'] +"""GARD:0006829""",keratosis follicularis spinulosa decalvans,[] +"""GARD:0006830""",bilirubin encephalopathy,['kernicterus'] +"""GARD:0006834""",kikuchi-fujimoto disease,"['histiocytic necrotizing lymphadenitis', 'kikuchi disease']" +"""GARD:0006835""",kimura disease,['eosinophilic lymphogranuloma'] +"""GARD:0006840""",klüver-bucy syndrome,[] +"""GARD:0006841""",kniest dysplasia,[] +"""GARD:0006842""",osteochondrosis of the tarsal bone,"['aseptic necrosis of the tarsal bone', 'avascular necrosis of the tarsal bone', 'kohler disease']" +"""GARD:0006844""",krabbe disease,"['galc deficiency', 'galactocerebrosidase deficiency', 'galactosylceramidase deficiency', 'globoid cell leukodystrophy']" +"""GARD:0006845""",cln4a disease,[] +"""GARD:0006848""",lacrimoauriculodentodigital syndrome,"['ladd syndrome', 'lard syndrome', 'lacrimoauriculoradiodental syndrome', 'levy-hollister syndrome']" +"""GARD:0006851""",lambert-eaton myasthenic syndrome,[] +"""GARD:0006855""",landau-kleffner syndrome,"['acquired epileptic aphasia', 'lks']" +"""GARD:0006858""",langerhans cell histiocytosis,"['histiocytosis x', 'langerhans cell granulomatosis']" +"""GARD:0006859""",laron syndrome,"['complete growth hormone insensitivity', 'gh receptor deficiency', 'growth hormone receptor deficiency', 'laron-type dwarfism', 'primary gh insensitivity', 'primary gh resistance', 'primary growth hormone insensitivity', 'primary growth hormone resistance', 'short stature due to growth hormone resistance']" +"""GARD:0006860""",larsen syndrome,[] +"""GARD:0006865""",congenital laryngomalacia,[] +"""GARD:0006866""",bardet-biedl syndrome,['bbs'] +"""GARD:0006867""",long chain 3-hydroxyacyl-coa dehydrogenase deficiency,"['lchad deficiency', 'lchadd', 'long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency']" +"""GARD:0006870""",leber hereditary optic neuropathy,"['lhon', 'leber optic atrophy']" +"""GARD:0006873""",ledderhose disease,['plantar fibromatosis'] +"""GARD:0006874""",legg-calvé-perthes disease,"['aseptic necrosis of the capital femoral epiphysis', 'osteochondrosis of the capital femoral epiphysis', 'perthes disease']" +"""GARD:0006876""",legionnaires disease,[] +"""GARD:0006877""",leigh syndrome,"['infantile subacute necrotizing encephalopathy', 'leigh disease']" +"""GARD:0006878""",erythroderma desquamativum,['leiner disease'] +"""GARD:0006880""",leiomyosarcoma,[] +"""GARD:0006881""",leishmaniasis,[] +"""GARD:0006882""",lemierre syndrome,"['lemierre postanginal sepsis', 'postanginal sepsis secondary to orophyngeal infection', 'septic phlebitis of the internal jugular vein']" +"""GARD:0006885""",leprechaunism,['donohue syndrome'] +"""GARD:0006886""",leprosy,[] +"""GARD:0006893""",leukocyte adhesion deficiency type i,['lad-i'] +"""GARD:0006895""",leukodystrophy,[] +"""GARD:0006901""",lhermitte-duclos disease,"['dysplastic gangliocytoma of the cerebellum', 'ldd']" +"""GARD:0006902""",li-fraumeni syndrome,[] +"""GARD:0006906""",light chain deposition disease,['lcdd'] +"""GARD:0006907""",limb-girdle muscular dystrophy,['lgmd'] +"""GARD:0006913""",liposarcoma,[] +"""GARD:0006914""",lissencephaly type 1 due to doublecortin gene mutation,['x-linked lissencephaly type 1'] +"""GARD:0006915""",listeriosis,['listeria infection'] +"""GARD:0006919""",locked-in syndrome,['cerebromedullospinal disconnection'] +"""GARD:0006940""",jessner lymphocytic infiltration of the skin,['jessner-kanof lymphocytic infiltration of the skin'] +"""GARD:0006943""",lymphomatoid granulomatosis,['lyg'] +"""GARD:0006944""",lymphomatoid papulosis,['lyp'] +"""GARD:0006950""",megalencephaly-capillary malformation-polymicrogyria syndrome,"['mcap', 'mcm', 'mcmtc', 'macrocephaly-capillary malformation syndrome', 'macrocephaly-cutis marmorata telangiectatica congenita syndrome', 'megalencephaly-capillary malformation syndrome', 'megalencephaly-cutis marmorata telangiectatica congenita syndrome']" +"""GARD:0006951""",macrodactyly of toes,['macrodactyly of foot'] +"""GARD:0006953""",macular corneal dystrophy,"['corneal dystrophy groenouw type ii', 'fehr corneal dystrophy', 'mcd']" +"""GARD:0006956""",sporadic creutzfeldt-jakob disease,['sporadic cjd'] +"""GARD:0006957""",multiple symmetric lipomatosis,"['cephalothoracic lipodystrophy', 'familial benign cervical lipomatosis', 'launois-bensaude lipomatosis', 'madelung disease']" +"""GARD:0006958""",maffucci syndrome,[] +"""GARD:0006959""",mal de débarquement,"['disembarkment syndrome', 'mdd', 'mdds', 'sickness of disembarkment']" +"""GARD:0006960""",malakoplakia,[] +"""GARD:0006961""",malaria,[] +"""GARD:0006963""",undifferentiated pleomorphic sarcoma,['ups'] +"""GARD:0006964""",malignant hyperthermia of anesthesia,['hyperthermia of anesthesia'] +"""GARD:0006968""",alpha-mannosidosis,['lysosomal alpha-d-mannosidase deficiency'] +"""GARD:0006969""",mantle cell lymphoma,"['lcm', 'mcl', 'mantle zone lymphoma']" +"""GARD:0006971""",marchiafava-bignami disease,['mbd'] +"""GARD:0006972""",marcus-gunn syndrome,"['jaw-winking syndrome', 'mandibulo-palpebral synkinesis-ptosis syndrome', 'marcus-gunn phenomenon']" +"""GARD:0006973""",marden-walker syndrome,[] +"""GARD:0006975""",marfan syndrome type 1,['mfs1'] +"""GARD:0006984""",marshall syndrome,[] +"""GARD:0006985""",marshall-smith syndrome,['accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome'] +"""GARD:0006986""",masa syndrome,['intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome'] +"""GARD:0006987""",mastocytosis,[] +"""GARD:0006992""",maxillonasal dysplasia,"['binder syndrome', 'maxillonasal dysostosis']" +"""GARD:0006995""",mccune-albright syndrome,['gonadotropin-independent female-limited sexual precocity'] +"""GARD:0006996""",cartilage-hair hypoplasia,"['autosomal recessive metaphyseal chondrodysplasia', 'metaphyseal chondrodysplasia; mckusick type']" +"""GARD:0007002""",muc1-related autosomal dominant tubulointerstitial kidney disease,"['adtkd-muc1', 'mckd1', 'muc1-related medullary cystic kidney disease', 'muci-related adtkd', 'medullary cystic kidney disease type 1']" +"""GARD:0007004""",medullary thyroid carcinoma,['mtc'] +"""GARD:0007005""",medulloblastoma,[] +"""GARD:0007006""",imerslund-gräsbeck syndrome,"['familial megaloblastic anemia', 'selective cobalamin malabsorption with proteinuria']" +"""GARD:0007008""",blepharospasm-oromandibular dystonia syndrome,"['meige dystonia', 'meige syndrome']" +"""GARD:0007009""",melas,"['mitochondrial encephalomyopathy; lactic acidosis and stroke-like episodes', 'mitochondrial encephalopathy; lactic acidosis; and stroke-like episodes', 'mitochondrial myopathy; encephalopathy; lactic acidosis and stroke-like episodes']" +"""GARD:0007010""",melkersson-rosenthal syndrome,[] +"""GARD:0007011""",melnick-needles syndrome,['melnick-needles osteodysplasty'] +"""GARD:0007015""",meningioma,[] +"""GARD:0007021""",mercury poisoning,"['hydrargyria', 'mercurialism', 'mercury intoxication']" +"""GARD:0007026""",pleural mesothelioma,[] +"""GARD:0007029""","metaphyseal chondrodysplasia, schmid type",[] +"""GARD:0007035""",multiple osteochondromas,"['bessel-hagen disease', 'multiple cartilaginous exostoses']" +"""GARD:0007039""",microvillus inclusion disease,"['congenital microvillous atrophy', 'congenital microvillus atrophy', 'mvid', 'microvillous inclusion disease']" +"""GARD:0007041""",extranodal nasal nk/t cell lymphoma,"['angiocentric t-cell lymphoma', 'lethal midline granuloma', 'nk/t-cell lymphoma', 'nktcl', 'nasal t/natural killer-cell lymphoma']" +"""GARD:0007043""",igg4-related dacryoadenitis and sialadenitis,"['chronic dacryoadenitis and sialadenitis', 'mikulicz disease']" +"""GARD:0007051""",mixed connective tissue disease,"['mctd', 'sharp syndrome']" +"""GARD:0007058""",localized scleroderma,['localized fibrosing scleroderma'] +"""GARD:0007064""",moyamoya disease,['idiopathic moyamoya disease'] +"""GARD:0007065""",mucopolysaccharidosis,[] +"""GARD:0007071""",sanfilippo syndrome type a,"['heparan sulfamidase deficiency', 'mps3a', 'mpsiiia', 'mucopolysaccharidosis type 3a', 'mucopolysaccharidosis type iiia']" +"""GARD:0007072""",sanfilippo syndrome type b,"['mps3b', 'mpsiiib', 'mucopolysaccharidosis type 3b', 'mucopolysaccharidosis type iiib', 'n-acetyl-alpha-glucosaminidase deficiency']" +"""GARD:0007073""",sanfilippo syndrome type c,"['hgsnat deficiency', 'heparan-alpha-glucosaminide n-acetyltransferase deficiency', 'mps3c', 'mpsiiic', 'mucopolysaccharidosis type 3c', 'mucopolysaccharidosis type iiic']" +"""GARD:0007074""",sanfilippo syndrome type d,"['gns deficiency', 'glucosamine n-acetyl-6-sulfatase deficiency', 'mps3d', 'mpsiiid', 'mucopolysaccharidosis type 3d', 'mucopolysaccharidosis type iiid']" +"""GARD:0007079""",multiple system atrophy,"['msa', 'multisystem atrophy']" +"""GARD:0007095""",mucopolysaccharidosis type 6,"['arsb deficiency', 'asb deficiency', 'arylsulfatase b deficiency', 'mps6', 'mpsvi', 'maroteaux-lamy disease', 'mucopolysaccharidosis type vi', 'n-acetylgalactosamine 4-sulfatase deficiency']" +"""GARD:0007096""",mucopolysaccharidosis type 7,"['beta-glucuronidase deficiency', 'mps7', 'mpsvii', 'mucopolysaccharidosis type vii', 'sly disease']" +"""GARD:0007097""",muenke syndrome,[] +"""GARD:0007100""",müllerian aplasia,"['aplasia of the müllerian ducts', 'müllerian duct failure']" +"""GARD:0007103""",multicentric reticulohistiocytosis,"['giant cell histiocytomatosis', 'lipoid dermatoarthritis']" +"""GARD:0007108""",multiple myeloma,"['kahler disease', 'medullary plasmacytoma', 'myelomatosis', 'plasma cell myeloma']" +"""GARD:0007111""",autosomal recessive multiple pterygium syndrome,"['autosomal recessive non-lethal multiple pterygium syndrome', 'evmps', 'escobar syndrome', 'escobar variant multiple pterygium syndrome']" +"""GARD:0007122""",myasthenia gravis,"['acquired myasthenia', 'autoimmune myasthenia gravis']" +"""GARD:0007132""",myelodysplastic syndrome,[] +"""GARD:0007139""",myoclonus-dystonia syndrome,"['alcohol-responsive dystonia', 'hereditary essential myoclonus', 'myoclonic dystonia']" +"""GARD:0007140""",progressive myoclonic epilepsy,"['pme', 'progressive myoclonus epilepsy']" +"""GARD:0007144""",merrf,"['fukuhara syndrome', 'myoclonus epilepsy associated with ragged-red fibres']" +"""GARD:0007146""",inflammatory myofibroblastic tumor,[] +"""GARD:0007148""",hyaline body myopathy,[] +"""GARD:0007157""",myxoid/round cell liposarcoma,['mrcls'] +"""GARD:0007158""",hyperammonemia due to n-acetylglutamate synthase deficiency,['nags deficiency'] +"""GARD:0007160""",nail-patella syndrome,"['onychoosteodysplasia', 'turner-kieser syndrome']" +"""GARD:0007161""",nance-horan syndrome,[] +"""GARD:0007162""",narcolepsy type 1,"['gélineau disease', 'narcolepsy-cataplexy']" +"""GARD:0007163""",nasopharyngeal carcinoma,['squamous cell carcinoma of the nasopharynx'] +"""GARD:0007166""",gorlin syndrome,"['basal cell nevus syndrome', 'gorlin-goltz syndrome', 'nbccs', 'nevoid basal cell carcinoma syndrome']" +"""GARD:0007170""",nelson syndrome,[] +"""GARD:0007171""",childhood-onset nemaline myopathy,['mild nemaline myopathy'] +"""GARD:0007172""",neonatal hemochromatosis,[] +"""GARD:0007178""",nephrogenic diabetes insipidus,[] +"""GARD:0007180""",benign peripheral nerve sheath tumor,['bpnst'] +"""GARD:0007182""",netherton syndrome,"['bamboo hair syndrome', 'comèl-netherton syndrome', 'ns']" +"""GARD:0007183""",sialidosis type 2,['infantile dysmorphic sialidosis'] +"""GARD:0007185""",neuroblastoma,[] +"""GARD:0007186""",neurocutaneous melanocytosis,"['ncm', 'neurocutaneous melanosis']" +"""GARD:0007190""",alzheimer disease 15,['alzheimer disease without neurofibrillary tangles'] +"""GARD:0007191""",neurofibroma,[] +"""GARD:0007193""",neurofibromatosis type 2,['nf2'] +"""GARD:0007195""",neuroleptic malignant syndrome,[] +"""GARD:0007201""",thymic aplasia,['nezelof syndrome'] +"""GARD:0007206""",infantile neurovisceral acid sphingomyelinase deficiency,"['infantile neurovisceral asmd', 'npd-a', 'niemann-pick disease type a']" +"""GARD:0007207""",niemann-pick disease type c,[] +"""GARD:0007210""",nocardiosis,[] +"""GARD:0007219""",glycine encephalopathy,"['nka', 'non-ketotic hyperglycinemia']" +"""GARD:0007220""",milroy disease,"['hereditary lymphedema type i', 'nonne-milroy lymphedema']" +"""GARD:0007223""",noonan syndrome 1,"['female pseudo-turner syndrome', 'turner phenotype with normal karyotype', 'male turner syndrome']" +"""GARD:0007224""",norrie disease,"['atrophia bulborum hereditaria', 'episkopi blindness', 'norrie-warburg disease']" +"""GARD:0007226""",lesch-nyhan syndrome,"['hprt complete deficiency', 'hprt deficiency grade iv', 'hypoxanthine guanine phosphoribosyltransferase complete deficiency', 'hypoxanthine guanine phosphoribosyltransferase deficiency; grade iv']" +"""GARD:0007239""",oculodentodigital dysplasia,"['meyer-schwickerath syndrome', 'oddd syndrome', 'oculodentoosseous dysplasia']" +"""GARD:0007245""",oculopharyngeal muscular dystrophy,['opmd'] +"""GARD:0007251""",ollier disease,['dyschondroplasia'] +"""GARD:0007252""",onchocerciasis,[] +"""GARD:0007264""",oral submucous fibrosis,['osmf'] +"""GARD:0007269""",carbamoyl-phosphate synthetase 1 deficiency,"['cps1 deficiency', 'cps1d', 'carbamoyl-phosphate synthetase i deficiency', 'carbamoyl-phosphate synthetase deficiency']" +"""GARD:0007284""",osteosarcoma,['osteogenic sarcoma'] +"""GARD:0007295""",ovarian cancer,['ovarian malignant tumor'] +"""GARD:0007296""",malignant mixed müllerian tumor of the ovary,"['mmmt of the ovary', 'ovarian carcinosarcoma', 'ovarian malignant mixed müllerian tumor', 'ovarian malignant mixed epithelial mesenchymal tumor']" +"""GARD:0007299""",pachydermoperiostosis,"['pdp', 'touraine-solente-gole syndrome']" +"""GARD:0007303""",paget disease of the nipple,"['mammary paget disease', 'paget disease of the breast', ""paget's disease of the nipple""]" +"""GARD:0007305""",pallister-hall syndrome,['hypothalamic hamartoblastoma syndrome'] +"""GARD:0007312""",pandas,"['pediatric autoimmune disorders associated with streptococcus infections', 'pediatric autoimmune neuropsychiatric disorders associated with streptococcus infections']" +"""GARD:0007321""",localized lichen myxedematosus,['papular mucinosis'] +"""GARD:0007323""",paracoccidioidomycosis,[] +"""GARD:0007324""",paragangliomas 1,"['glomus jugulare tumors', 'paraganglioma; carotid body', 'chemodectomas', 'paragangliomata', 'paragangliomas; familial nonchromaffin; 1', 'paragangliomas; familial; 1', 'glomus tumors; familial; 1', 'carotid body tumors']" +"""GARD:0007325""",paramyotonia congenita of von eulenburg,['paramyotonia congenita'] +"""GARD:0007326""",paraneoplastic neurologic syndrome,['pns'] +"""GARD:0007329""",parathyroid carcinoma,[] +"""GARD:0007335""",paroxysmal cold hemoglobinuria,"['donath-landsteiner hemolytic anemia', 'donath-landsteiner syndrome', 'pch']" +"""GARD:0007337""",paroxysmal nocturnal hemoglobinuria,"['marchiafava-micheli disease', 'pnh']" +"""GARD:0007338""",progressive hemifacial atrophy,"['hemifacial atrophy', 'pha', 'parry-romberg syndrome', 'progressive facial hemiatrophy', 'romberg syndrome']" +"""GARD:0007341""",trisomy 13,['patau syndrome'] +"""GARD:0007342""",patent ductus arteriosus 1,[] +"""GARD:0007343""",pearson syndrome,[] +"""GARD:0007347""",peeling skin syndrome,"['deciduous skin', 'familial continuous skin peeling syndrome', 'idiopathic deciduous skin', 'keratosis exfoliativa congenita', 'pss', 'peeling skin disease']" +"""GARD:0007354""",pemphigus foliaceus,[] +"""GARD:0007355""",pemphigus vulgaris,[] +"""GARD:0007359""",pentalogy of cantrell,"['cantrell deformity', 'cantrell syndrome', 'thoraco-abdominal syndrome']" +"""GARD:0007360""",polyarteritis nodosa,"['küssmaul-maier disease', 'pan', 'periarteritis nodosa']" +"""GARD:0007371""",periventricular nodular heterotopia 1,"['periventricular nodular heterotopia 4; formerly', 'heterotopia; familial nodular', 'nodular heterotopia; bilateral periventricular', 'heterotopia; periventricular; ehlers-danlos variant', 'heterotopia; periventricular; x-linked dominant']" +"""GARD:0007377""",peters anomaly,['peters congenital glaucoma'] +"""GARD:0007378""",peutz-jeghers syndrome,"['hamartomatous intestinal polyposis', 'pjs']" +"""GARD:0007380""",pfeiffer syndrome,"['acs5', 'acrocephalosyndactyly type 5']" +"""GARD:0007381""",liddle syndrome,"['pseudoaldosteronism', 'pseudohyperaldosteronism type 1']" +"""GARD:0007383""",phenylketonuria,"['pah deficiency', 'pku', 'phenylalanine hydroxylase deficiency']" +"""GARD:0007385""",sporadic pheochromocytoma/secreting paraganglioma,[] +"""GARD:0007387""",roberts syndrome,"['pseudothalidomide syndrome', 'roberts-sc phocomelia syndrome', 'sc phocomelia', 'sc pseudothalidomide syndrome']" +"""GARD:0007389""",glycogen storage disease due to phosphoglycerate kinase 1 deficiency,"['gsd due to phosphoglycerate kinase 1 deficiency', 'glycogenosis due to phosphoglycerate kinase 1 deficiency']" +"""GARD:0007392""",behavioral variant of frontotemporal dementia,['bv-ftd'] +"""GARD:0007396""",tenosynovial giant cell tumor,"['diffuse-type gct', 'diffuse-type giant cell tumor', 'pigmented villonodular synovitis', 'tgct', 'tsgct']" +"""GARD:0007399""",isolated growth hormone deficiency type ia,"['congenital ighd type ia', 'congenital isolated gh deficiency type ia', 'congenital isolated growth hormone deficiency type ia']" +"""GARD:0007401""",pityriasis rubra pilaris,[] +"""GARD:0007403""",placental site trophoblastic tumor,['psst'] +"""GARD:0007411""",poems syndrome,"['crow-fukase syndrome', 'osteosclerotic myeloma', 'pep syndrome', 'polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome', 'takatsuki syndrome']" +"""GARD:0007412""",poland syndrome,"['poland anomaly', 'poland sequence']" +"""GARD:0007413""",poliomyelitis,[] +"""GARD:0007415""",cutaneous polyarteritis nodosa,"['cutaneous pan', 'cutaneous periarteritis nodosa']" +"""GARD:0007417""",relapsing polychondritis,['polychondropathia'] +"""GARD:0007422""",polycythemia vera,"['acquired primary erythrocytosis', 'osler-vaquez disease', 'pv', 'polycythemia rubra vera', 'vaquez disease']" +"""GARD:0007425""",polymyositis,[] +"""GARD:0007430""",porencephaly,[] +"""GARD:0007433""",porphyria cutanea tarda,['pct'] +"""GARD:0007439""",posterior urethral valve,['puv'] +"""GARD:0007446""",rare precocious puberty,[] +"""GARD:0007459""",primary biliary cholangitis,"['hanot syndrome', 'pbc', 'primary biliary cirrhosis']" +"""GARD:0007467""",hutchinson-gilford progeria syndrome,"['hgps', 'progeria']" +"""GARD:0007468""",progressive multifocal leukoencephalopathy,"['pml', 'progressive multifocal leukoencephalitis']" +"""GARD:0007471""",progressive supranuclear palsy,['psp syndrome'] +"""GARD:0007473""",prolidase deficiency,['hyperimidodipeptiduria'] +"""GARD:0007475""",proteus syndrome,['partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome'] +"""GARD:0007479""",prune belly syndrome,"['abdominal muscle deficiency syndrome', 'eagle-barret syndrome', 'obrinsky syndrome', 'triad syndrome']" +"""GARD:0007482""",butyrylcholinesterase deficiency,['pseudocholinesterase deficiency'] +"""GARD:0007486""",pseudohypoparathyroidism type 1a,"['aho-php syndrome ia', 'albright hereditary osteodystrophy-php syndrome ia']" +"""GARD:0007488""",pseudomyxoma peritonei,"['adenomucinosis', 'gelatinous ascites', 'pmp']" +"""GARD:0007499""",autoimmune pulmonary alveolar proteinosis,"['autoimmune pap', 'apap']" +"""GARD:0007501""",pulmonary arterial hypertension,['pah'] +"""GARD:0007503""",punctate inner choroidopathy,[] +"""GARD:0007510""",pyoderma gangrenosum,[] +"""GARD:0007512""",pyruvate carboxylase deficiency,"['ataxia with lactic acidosis type 2', 'ataxia with lactic acidosis type ii', 'leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency', 'leigh syndrome due to pc deficiency', 'leigh syndrome due to pyruvate carboxylase deficiency']" +"""GARD:0007513""",pyruvate dehydrogenase deficiency,"['pdh', 'pdhc', 'pyruvate dehydrogenase complex deficiency']" +"""GARD:0007514""",hemolytic anemia due to red cell pyruvate kinase deficiency,['pyruvate kinase deficiency of erythrocytes'] +"""GARD:0007515""",q fever,"['coxiellosis', 'infection due to coxiella burnetii', 'nine mile fever', 'quadrilateral fever', 'query fever']" +"""GARD:0007516""",rabies,[] +"""GARD:0007523""",ramon syndrome,['cherubism-gingival fibromatosis-intellectual disability syndrome'] +"""GARD:0007525""",ramsay hunt syndrome,"['facial nerve palsy due to vzv', 'facial nerve palsy due to herpes zoster infection', 'facial nerve paralysis due to vzv']" +"""GARD:0007548""",familial renal glucosuria,"['familial renal glycosuria', 'sglt2 deficiency']" +"""GARD:0007552""",primary renal tubular acidosis,[] +"""GARD:0007563""",retinoblastoma,[] +"""GARD:0007570""",reye syndrome,[] +"""GARD:0007572""",rhabdoid tumor,['malignant rhabdoid tumor'] +"""GARD:0007581""",familial dysautonomia,"['hsan3', 'hereditary sensory and autonomic neuropathy type 3', 'hereditary sensory and autonomic neuropathy type iii', 'riley-day syndrome']" +"""GARD:0007585""",rocky mountain spotted fever,[] +"""GARD:0007588""",rosaï-dorfman disease,"['destombes-rosaï-dorfman disease', 'rosaï-dorfman-destombes disease', 'shml', 'sinus histiocytosis with massive lymphadenopathy']" +"""GARD:0007593""",rubinstein-taybi syndrome,"['broad thumb-hallux syndrome', 'broad thumbs-halluces syndrome']" +"""GARD:0007598""",saethre-chotzen syndrome,"['acs3', 'acrocephalosyndactyly type 3', 'scs']" +"""GARD:0007604""","sandhoff disease, infantile form","['hexosaminidases a and b deficiency; infantile form', 'infantile gm2 gangliosidosis 0 variant']" +"""GARD:0007606""",sapho syndrome,['synovitis-acne-pustulosis-hyperostosis-osteitis syndrome'] +"""GARD:0007607""",sarcoidosis,"['besnier-boeck-schaumann disease', 'boeck sarcoid']" +"""GARD:0007608""",x-linked scapuloperoneal muscular dystrophy,"['x-linked spmd', 'x-linked scapuloperoneal syndrome']" +"""GARD:0007610""",familial scheuermann disease,"['familial scheuermann juvenile kyphosis', 'familial spinal osteochondrosis']" +"""GARD:0007611""",autoimmune polyendocrinopathy type 2,"['aps type 2', 'aps2', 'autoimmune polyendocrine syndrome type 2', 'autoimmune polyglandular syndrome type 2', 'autoimmune thyroid disease and/or type 1 diabetes-addison disease syndrome', 'schmidt syndrome']" +"""GARD:0007615""",scleromyxedema,"['arndt-gottron disease', 'generalized lichenoid papular eruption', 'generalized papular and sclerodermoid lichen myxedematosus']" +"""GARD:0007617""",kuru,[] +"""GARD:0007627""",septo-optic dysplasia spectrum,"['de morsier syndrome', 'sod', 'septo-optic dysplasia']" +"""GARD:0007628""",severe combined immunodeficiency,['scid'] +"""GARD:0007629""",sézary syndrome,['sézary lymphoma'] +"""GARD:0007630""",sheehan syndrome,[] +"""GARD:0007633""",short syndrome,"['lipodystrophy-rieger anomaly-diabetes syndrome', 'rieger anomaly-partial lipodystrophy syndrome']" +"""GARD:0007639""",sialidosis type 1,"['cherry-red spot-myoclonus syndrome', 'lipomucopolysaccharidosis', 'normomorphic sialidosis']" +"""GARD:0007649""",simpson-golabi-behmel syndrome,"['dgsx', 'golabi-rosen syndrome', 'sdys', 'sgbs', 'sgbs1', 'simpson dysmorphia syndrome', 'simpson-golabi-behmel syndrome type 1', 'x-linked dysplasia gigantism syndrome']" +"""GARD:0007652""",sirenomelia,[] +"""GARD:0007653""",sitosterolemia,['phytosterolemia'] +"""GARD:0007654""",sjögren-larsson syndrome,['fatty acid alcohol oxidoreductase deficiency'] +"""GARD:0007664""",sneddon syndrome,"['ehrmann-sneddon syndrome', 'livedo racemosa-cerebrovascular accident syndrome', 'livedo reticularis-cerebrovascular accident syndrome']" +"""GARD:0007672""",sphingolipidosis,[] +"""GARD:0007673""",isolated spina bifida,[] +"""GARD:0007687""",spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia,['sed and semd'] +"""GARD:0007690""",gerstmann-straussler-scheinker syndrome,['subacute spongiform encephalopathy; gerstmann-straussler type'] +"""GARD:0007692""",sporotrichosis,[] +"""GARD:0007693""",sprengel deformity,['high scapula'] +"""GARD:0007695""",succinic semialdehyde dehydrogenase deficiency,"['4-hydroxybutyric aciduria', 'gamma-hydroxybutyric aciduria', 'ssadh deficiency']" +"""GARD:0007700""",stevens-johnson syndrome,['dermatostomatitis; stevens johnson type'] +"""GARD:0007706""",sturge-weber syndrome,"['encephalofacial angiomatosis', 'encephalotrigeminal angiomatosis', 'sws', 'sturge-weber-dimitri syndrome', 'sturge-weber-krabbe angiomatosis', 'sturge-weber-krabbe syndrome']" +"""GARD:0007708""",subacute sclerosing leukoencephalitis,"['dawson encephalitis', 'sspe', 'subacute inclusion body encephalitis', 'subacute sclerosing panencephalitis', 'van bogaert disease', 'van bogaert encephalitis']" +"""GARD:0007710""",congenital sucrase-isomaltase deficiency,"['csid', 'congenital sucrose intolerance', 'disaccharide intolerance']" +"""GARD:0007712""",superior mesenteric artery syndrome,"['smas', 'wilkie syndrome']" +"""GARD:0007713""",susac syndrome,['retinocochleocerebral vasculopathy'] +"""GARD:0007716""",sydenham chorea,[] +"""GARD:0007721""",synovial sarcoma,['synovialosarcoma'] +"""GARD:0007725""",syringomyelia,['hydromyelia'] +"""GARD:0007730""",takayasu arteritis,[] +"""GARD:0007731""",tangier disease,"['atp-binding cassette transporter a1 deficiency', 'analphalipoproteinemia']" +"""GARD:0007737""",tay-sachs disease,"['gm2 gangliosidosis; b; b1 variant', 'hexosaminidase a deficiency']" +"""GARD:0007743""",stevens-johnson syndrome/toxic epidermal necrolysis spectrum,"['sjs-ten', 'toxic epidermolysis']" +"""GARD:0007751""",hyperphenylalaninemia due to tetrahydrobiopterin deficiency,"['hyperphenylalaninemia due to bh4 deficiency', 'non-phenylketonuric hyperphenylalaninemia']" +"""GARD:0007754""",tetrasomy x,"['48;xxxx syndrome', 'quadruple x', 'tetra x']" +"""GARD:0007759""",thoracic outlet syndrome,"['tos', 'thoracic outlet compression syndrome']" +"""GARD:0007772""",tietz syndrome,"['hypopigmentation-deafness syndrome', 'hypopigmentation-hearing loss syndrome']" +"""GARD:0007777""",tolosa-hunt syndrome,['painful ophthalmoplegia'] +"""GARD:0007784""",townes-brocks syndrome,"['imperforate anus-hand; foot and ear anomalies syndrome', 'rear syndrome', 'renal-ear-anal-radial syndrome', 'sensorineural deafness with imperforate anus and hypoplastic thumbs', 'sensorineural hearing loss with imperforate anus and hypoplastic thumbs', 'tbs', 'townes syndrome']" +"""GARD:0007793""",transient erythroblastopenia of childhood,['transient acquired pure red cell aplasia'] +"""GARD:0007795""",transposition of the great arteries,"['complete transposition', 'tga', 'tgv', 'transposition of the great vessels']" +"""GARD:0007799""",tricho-dento-osseous syndrome,['tdo syndrome'] +"""GARD:0007800""","trichorhinophalangeal syndrome, type i",['trps i'] +"""GARD:0007801""",trichorhinophalangeal syndrome type 2,"['deletion 8q24.1', 'langer-giedion syndrome', 'monosomy 8q24.1']" +"""GARD:0007802""","trichorhinophalangeal syndrome, type iii",['sugio-kajii syndrome'] +"""GARD:0007805""",trigeminal neuralgia,[] +"""GARD:0007826""",african trypanosomiasis,['sleeping sickness'] +"""GARD:0007827""",tuberculosis,[] +"""GARD:0007828""",tuberculous meningitis,"['tbm', 'tubercular meningitis']" +"""GARD:0007830""",tuberous sclerosis complex,"['bourneville syndrome', 'tuberous sclerosis']" +"""GARD:0007831""",turner syndrome,"['45;x syndrome', '45;x/46;xx syndrome']" +"""GARD:0007837""",disorder of urea cycle metabolism and ammonia detoxification,[] +"""GARD:0007842""",cutaneous mastocytosis,[] +"""GARD:0007843""",usher syndrome,"['retinitis pigmentosa-hearing loss syndrome', 'ush']" +"""GARD:0007846""",van der woude syndrome 2,[] +"""GARD:0007848""",porphyria variegata,"['protoporphyrinogen oxidase deficiency', 'variegate porphyria']" +"""GARD:0007851""",cutaneous small vessel vasculitis,['cutaneous hypersensitivity vasculitis'] +"""GARD:0007854""",vernal keratoconjunctivitis,['spring catarrh'] +"""GARD:0007855""",von hippel-lindau disease,"['familial cerebelloretinal angiomatosis', 'lindau disease', 'vhl', 'von hippel-lindau syndrome']" +"""GARD:0007857""",hemophagocytic syndrome associated with an infection,"['iahs', 'vahs', 'virus-associated hemophagocytic syndrome']" +"""GARD:0007860""",pseudopseudohypoparathyroidism,"['aho-pphp syndrome', 'albright hereditary osteodystrophy-pphp syndrome']" +"""GARD:0007862""",vogt-koyanagi-harada disease,['uveomenigitic syndrome'] +"""GARD:0007864""",glycogen storage disease due to glucose-6-phosphatase deficiency type ia,"['g6p deficiency type 1a', 'gsd due to g6p deficiency type 1a', 'gsd due to g6p deficiency type ia', 'gsd type 1a', 'gsdia', 'glycogen storage disease due to g6p deficiency type ia', 'glycogen storage disease type 1a', 'glycogenosis due to glucose-6-phosphatase deficiency type 1a', 'glycogenosis due to glucose-6-phosphatase deficiency type ia', 'glycogenosis type ia']" +"""GARD:0007866""",neurofibromatosis type 1,"['nf1', 'von recklinghausen disease']" +"""GARD:0007867""",von willebrand disease,['hereditary von willebrand disease'] +"""GARD:0007871""",wagner disease,"['dominant hyaloideoretinal dystrophy of wagner', 'vcan-related vitreoretinopathy', 'vitreoretinal degeneration; wagner type', 'wagner syndrome']" +"""GARD:0007872""",waldenström macroglobulinemia,[] +"""GARD:0007873""",primary intestinal lymphangiectasia,['waldmann disease'] +"""GARD:0007876""","autoimmune hemolytic anemia, warm type","['warm aiha', 'waha', 'waiha']" +"""GARD:0007878""",weaver syndrome,['camptodactyly-overgrowth-unusual facies syndrome'] +"""GARD:0007879""",nodular non-suppurative panniculitis,"['idiopathic lobular panniculitis', 'idiopathic nodular panniculitis', 'pfeiffer-weber-christian syndrome', 'relapsing febrile nodular nonsuppurative panniculitis', 'relapsing febrile nodular panniculitis', 'wcd', 'weber-christian disease', 'weber-christian panniculitis']" +"""GARD:0007880""",granulomatosis with polyangiitis,['gpa'] +"""GARD:0007881""",leptospirosis,[] +"""GARD:0007883""",proximal spinal muscular atrophy type 1,"['infantile spinal muscular atrophy', 'infantile-onset spinal muscular atrophy', 'sma type 1', 'sma type i', 'sma-i', 'sma1', 'werdnig-hoffmann disease']" +"""GARD:0007885""",werner syndrome,"['adult progeria', 'ws']" +"""GARD:0007887""",infantile spasms syndrome,['west syndrome'] +"""GARD:0007888""",western equine encephalitis,['western equine encephalomyelitis'] +"""GARD:0007889""",whipple disease,['intestinal lipodystrophy'] +"""GARD:0007890""",intellectual disability-developmental delay-contractures syndrome,"['foot contractures-muscle atrophy-oculomotor apraxia syndrome', 'wieacker-wolff syndrome']" +"""GARD:0007891""",williams syndrome,"['deletion 7q11.23', 'monosomy 7q11.23', 'williams-beuren syndrome']" +"""GARD:0007892""",nephroblastoma,"['renal embryonic tumor', 'wilms tumor']" +"""GARD:0007893""",wilson disease,['hepatolenticular degeneration'] +"""GARD:0007894""",winchester syndrome,[] +"""GARD:0007895""",wiskott-aldrich syndrome,"['eczema-thrombocytopenia-immunodeficiency syndrome', 'was']" +"""GARD:0007896""",wolf-hirschhorn syndrome,"['4p- syndrome', 'distal deletion 4p', 'distal monosomy 4p', 'telomeric deletion 4p']" +"""GARD:0007898""",wolfram syndrome,"['didmoad syndrome', 'diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome', 'diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome']" +"""GARD:0007899""",wolman disease,[] +"""GARD:0007900""",wyburn-mason syndrome,"['bonnet-dechaume-blanc syndrome', 'cams2', 'cerebrofacial arteriovenous metameric syndrome type 2']" +"""GARD:0007904""",recessive x-linked ichthyosis,"['rxli', 'steroid sulfatase deficiency', 'x-linked ichthyosis', 'xli']" +"""GARD:0007906""",x-linked lymphoproliferative disease due to sh2d1a deficiency,"['sap deficiency', 'sh2d1a/slam-associated protein deficiency', 'x-linked lymphoproliferative syndrome type 1', 'xlp1']" +"""GARD:0007910""",xeroderma pigmentosum,[] +"""GARD:0007914""",yellow fever,"['bronze john', 'yf', 'yellow jack']" +"""GARD:0007917""",zellweger syndrome,"['cerebrohepatorenal syndrome', 'severe pbd-zsd', 'severe peroxisome biogenesis disorder-zellweger spectrum disorder', 'zs']" +"""GARD:0007918""",zollinger-ellison syndrome,['gastrinoma'] +"""GARD:0007922""",muscular dystrophy,[] +"""GARD:0008169""",igg4-related mesenteritis,"['isolated mesenteric lipodystrophy', 'lipomatous mesenteritis', 'liposclerotic mesenteritis', 'mesenteric lipogranuloma', 'mesenteric panniculitis', 'sclerosing mesenteritis']" +"""GARD:0008173""",achondroplasia,[] +"""GARD:0008174""",cryptomicrotia-brachydactyly-excess fingertip arch syndrome,"['cryptomicrotia-brachydactyly syndrome', 'tonoki-ohura-niikawa syndrome']" +"""GARD:0008178""",hypotrichosis 7,"['hypotrichosis; autosomal recessive', 'hypotrichosis; total; mari type', 'hypotrichosis; localized; autosomal recessive 2']" +"""GARD:0008182""",proximal symphalangism,['symphalangism; cushing type'] +"""GARD:0008189""",conotruncal heart malformations,[] +"""GARD:0008194""",cysticercosis,[] +"""GARD:0008195""",strongyloidiasis,"['anguilluliasis', 'anguillulosis']" +"""GARD:0008197""",smith-magenis syndrome,['17p11.2 microdeletion syndrome'] +"""GARD:0008198""",omenn syndrome,['combined immunodeficiency with hypereosinophilia'] +"""GARD:0008204""",immunoglobulin a vasculitis,"['anaphylactoid purpura', 'henoch-schönlein purpura', 'iga vasculitis', 'purpura rheumatica', 'rheumatoid purpura']" +"""GARD:0008206""","congenital generalized hypertrichosis, ambras type",['ambras syndrome'] +"""GARD:0008207""",pineocytoma,[] +"""GARD:0008208""",tropical spastic paraparesis,"['ham/tsp', 'htlv-1-associated myelopathy/tropical spastic paraparesis', 'human t-lymphotropic virus type i-associated myelopathy/tropical spastic paraparesis', 'human t-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis', 'tsp']" +"""GARD:0008214""",lafora disease,"['epm2', 'pme type 2', 'progressive myoclonic epilepsy type 2', 'progressive myoclonus epilepsy type 2']" +"""GARD:0008216""",mansonelliasis,['mansonellosis'] +"""GARD:0008223""",b-cell prolymphocytic leukemia,['b-pll'] +"""GARD:0008225""",chronic myelomonocytic leukemia,['cmml'] +"""GARD:0008231""",non-langerhans cell histiocytosis,[] +"""GARD:0008232""",hemangioblastoma,[] +"""GARD:0008233""",gaucher disease,"['acid beta-glucosidase deficiency', 'glucocerebrosidase deficiency']" +"""GARD:0008234""",felty syndrome,['splenomegaly-neutropenia-rheumatoid arthritis syndrome'] +"""GARD:0008238""",choroid plexus carcinoma,[] +"""GARD:0008240""","hypersensitivity pneumonitis, familial",[] +"""GARD:0008241""",sea-blue histiocytosis,[] +"""GARD:0008249""",acquired idiopathic sideroblastic anemia,"['aisa', 'primary acquired sideroblastic anemia', 'rars', 'refractory anemia with ringed sideroblasts']" +"""GARD:0008254""",omsk hemorrhagic fever,[] +"""GARD:0008257""",kyasanur forest disease,"['kyasanur hemorrhagic fever', 'monkey disease', 'monkey fever']" +"""GARD:0008259""",plummer-vinson syndrome,"['kelly-paterson syndrome', 'sideropenic dysphagia']" +"""GARD:0008270""",muscular pseudohypertrophy-hypothyroidism syndrome,"['hoffmann syndrome', 'kocher-debré-semelaigne syndrome']" +"""GARD:0008275""",keratolytic winter erythema,"['erythrokeratolysis hiemalis', 'oudtshoorn disease']" +"""GARD:0008282""",hereditary amyloidosis with primary renal involvement,"['amyloidosis; ostertag type', 'familial amyloid nephropathy', 'familial renal amyloidosis', 'hereditary amyloid nephropathy', 'hereditary renal amyloidosis']" +"""GARD:0008283""",diamond-blackfan anemia 2,[] +"""GARD:0008295""",isolated complex iii deficiency,"['isolated coq-cytochrome c reductase deficiency', 'isolated coenzyme q-cytochrome c reductase deficiency', 'isolated mitochondrial respiratory chain complex iii deficiency', 'isolated ubiquinone-cytochrome c reductase deficiency']" +"""GARD:0008309""",tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,"['absent tibia-polydactyly syndrome', 'werner mesomelic spectrum']" +"""GARD:0008310""",steinert myotonic dystrophy,"['myotonic dystrophy type 1', 'steinert disease']" +"""GARD:0008312""",pseudo-von willebrand disease,"['pt-vwd', 'platelet type-von willebrand disease', 'pseudo-von willebrand disease type 2b']" +"""GARD:0008317""",dendritic cell tumor,[] +"""GARD:0008329""",atelosteogenesis type ii,"['ao2', 'aoii', 'atelosteogenesis type 2', 'de la chapelle dysplasia', 'neonatal osseous dysplasia type 1']" +"""GARD:0008331""",mohr-tranebjaerg syndrome,"['ddon syndrome', 'deafness-dystonia-optic neuronopathy syndrome', 'hearing loss-dystonia-optic neuronopathy syndrome']" +"""GARD:0008333""",athabaskan brainstem dysgenesis syndrome,"['absd', 'athabascan brainstem dysgenesis syndrome', 'navajo brainstem syndrome']" +"""GARD:0008334""",amish nemaline myopathy,[] +"""GARD:0008337""",igg4-related mediastinitis,"['fibrosing mediastinitis', 'mediastinal fibrosis', 'sclerosing mediastinitis']" +"""GARD:0008338""",phace syndrome,"['phaces syndrome', 'pascual-castroviejo syndrome type 2']" +"""GARD:0008341""",marinesco-sjögren syndrome,[] +"""GARD:0008343""","spondylometaphyseal dysplasia, golden type",['x-linked spondylometaphyseal dysplasia'] +"""GARD:0008344""",abri amyloidosis,['familial dementia; british type'] +"""GARD:0008345""",quebec platelet disorder,['factor v quebec'] +"""GARD:0008349""",hypomaturation amelogenesis imperfecta,['amelogenesis imperfecta type 2'] +"""GARD:0008360""",x-linked intellectual disability-retinitis pigmentosa syndrome,"['aldred syndrome', 'retinitis pigmentosa and intellectual disability due to xp11.3 microdeletion', 'retinitis pigmentosa and intellectual disability due to del(x)(p11.3)', 'retinitis pigmentosa and intellectual disability due to monosomy xp11.3']" +"""GARD:0008367""",autosomal recessive kenny-caffey syndrome,[] +"""GARD:0008370""","congenital lactic acidosis, saguenay-lac-saint-jean type","['cox deficiency; french-canadian type', 'cytochrome c oxidase deficiency; french-canadian type', 'cytochrome oxidase deficiency; saguenay-lac-saint-jean type', 'leigh syndrome; french-canadian type', 'leigh syndrome; saguenay-lac-saint-jean type', 'slsj-cox deficiency']" +"""GARD:0008378""",autosomal recessive polycystic kidney disease,['ar-pkd'] +"""GARD:0008380""",generalized arterial calcification of infancy,"['idiopathic infantile arterial calcification', 'idiopathic obliterative arteriopathy', 'infantile arteriosclerosis', 'occlusive infantile arteriopathy']" +"""GARD:0008387""",3-hydroxy-3-methylglutaric aciduria,"['3-hydroxy-3-methylglutaryl-coa lyase deficiency', 'hmg-coa lyase deficiency', 'hydroxymethylglutaric aciduria']" +"""GARD:0008391""",ornithine transcarbamylase deficiency,"['oct deficiency', 'otc deficiency', 'ornithine carbamoyltransferase deficiency']" +"""GARD:0008397""",brain demyelination due to methionine adenosyltransferase deficiency,"['mat i/iii deficiency', 'mat deficiency', 'methionine adenosyltransferase deficiency']" +"""GARD:0008406""","spermatogenic failure, x-linked, 1","['sertoli cell-only syndrome', 'del castillo syndrome', 'germinal cell aplasia']" +"""GARD:0008407""",feingold syndrome,"['brunner-winter syndrome', 'digital anomalies with short palpebral fissures and atresia of esophagus or duodenum', 'fglds', 'fs', 'mmt', 'moded syndrome', 'microcephaly-digital anomalies-normal intelligence syndrome', 'microcephaly-intellectual disability-tracheoesophageal fistula syndrome', 'microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome', 'oded syndrome', 'oculo-digito-esophageal-duodenal syndrome']" +"""GARD:0008410""",postaxial acrofacial dysostosis,"['acrofacial dysostosis; genee-wiedemann type', 'mandibulofacial dysostosis with postaxial limb anomalies', 'miller syndrome', 'poads', 'postaxial acrodysostosis']" +"""GARD:0008414""",van der woude syndrome,"['cleft lip/palate with mucous cysts of lower lip', 'lip-pit syndrome', 'vws']" +"""GARD:0008416""",focal facial dermal dysplasia,['ffdd'] +"""GARD:0008417""",renal cell carcinoma 4,['rcc4'] +"""GARD:0008419""",isolated optic nerve hypoplasia/aplasia,[] +"""GARD:0008421""",tetrasomy 12p,"['isochromosome 12p mosaicism', 'isochromosome 12p syndrome', 'pallister-killian syndrome']" +"""GARD:0008422""",peters plus syndrome,"['krause-kivlin syndrome', 'krause-van schooneveld-kivlin syndrome', 'peters anomaly with short limb dwarfism']" +"""GARD:0008423""",richards-rundle syndrome,"['ketoaciduria-intellectual disability-ataxia-deafness syndrome', 'ketoaciduria-intellectual disability-ataxia-hearing loss syndrome']" +"""GARD:0008424""",iminoglycinuria,[] +"""GARD:0008426""",thyroid hypoplasia,[] +"""GARD:0008427""",immunodeficiency by defective expression of mhc class i,"['bare lymphocyte syndrome type 1', 'mhc class i deficiency']" +"""GARD:0008428""",crane-heise syndrome,[] +"""GARD:0008432""",native american myopathy,['congenital myopathy-cleft palate-malignant hyperthermia syndrome'] +"""GARD:0008433""",king-denborough syndrome,['koussef-nichols syndrome'] +"""GARD:0008435""",persistent müllerian duct syndrome,"['pmds', 'persistent müllerian derivatives']" +"""GARD:0008436""",frontotemporal dementia,['ftd'] +"""GARD:0008438""",isolated anterior cervical hypertrichosis,"['hairy throat syndrome', 'tsukahara-kajii syndrome']" +"""GARD:0008449""",keutel syndrome,['pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome'] +"""GARD:0008457""",tumor necrosis factor receptor 1 associated periodic syndrome,"['familial hibernian fever', 'tnf receptor 1-associated periodic syndrome', 'traps syndrome']" +"""GARD:0008466""",autoimmune polyendocrinopathy type 1,"['apeced syndrome', 'aps type 1', 'aps1', 'autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome', 'autoimmune polyendocrine syndrome type 1', 'autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome', 'autoimmune polyglandular syndrome type 1', 'ham syndrome', 'hypoparathyroidism-addison disease-mucocutaneous candidiasis syndrome', 'medac syndrome', 'multiple endocrine deficiency-addison disease-candidiasis syndrome']" +"""GARD:0008468""",melanoma and neural system tumor syndrome,['melanoma-astrocytoma syndrome'] +"""GARD:0008471""",x-linked recessive ocular albinism,"['oa1', 'ocular albinism type 1', 'ocular albinism; nettleship-falls type', 'xloa']" +"""GARD:0008472""",muckle-wells syndrome,['neutrophilic urticaria'] +"""GARD:0008476""",leber plus disease,['lhon plus disease'] +"""GARD:0008479""",familial multiple discoid fibromas,['familial multiple trichodiscomas'] +"""GARD:0008480""",autosomal recessive cutis laxa type 1,"['arcl1', 'autosomal recessive cutis laxa with severe systemic involvement', 'autosomal recessive cutis laxa; pulmonary emphysema type']" +"""GARD:0008485""",acropectoral syndrome,"['acrp syndrome', 'syndactyly-preaxial polydactyly-sternal deformity syndrome']" +"""GARD:0008486""",musculocontractural ehlers-danlos syndrome,"['adducted thumb-clubfoot syndrome', 'distal arthrogryposis with peculiar facies and hydronephrosis', 'dündar syndrome', 'ehlers-danlos syndrome; kosho type', 'musculocontractural eds', 'mceds']" +"""GARD:0008487""",infantile digital fibromatosis,"['inclusion body fibromatosis', 'recurring digital fibrous tumor of childhood', 'reye tumor']" +"""GARD:0008488""",familial papillary or follicular thyroid carcinoma,"['fnmtc', 'familial pure nonmedullary thyroid carcinoma']" +"""GARD:0008491""","meningioma, radiation-induced",[] +"""GARD:0008495""",african iron overload,['bantu siderosis'] +"""GARD:0008497""","usher syndrome, type iic",[] +"""GARD:0008501""",white sponge nevus,"['hereditary mucosal leukokeratosis', 'white sponge nevus of cannon']" +"""GARD:0008505""",x-linked ehlers-danlos syndrome,"['eds v', 'ehlers-danlos syndrome type 5', 'x-linked eds']" +"""GARD:0008507""",classical-like ehlers-danlos syndrome type 1,"['classical-like eds type 1', 'ehlers-danlos syndrome due to tenascin-x deficiency', 'cleds type 1']" +"""GARD:0008509""",aredyld syndrome,['acrorenal defect-ectodermal dysplasia-diabetes syndrome'] +"""GARD:0008517""",huriez syndrome,"['palmoplantar hyperkeratosis-sclerodactyly syndrome', 'palmoplantar keratoderma-sclerodactyly syndrome', 'scleroatrophic syndrome', 'sclerotylosis']" +"""GARD:0008520""",x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome,[] +"""GARD:0008521""",infantile-onset x-linked spinal muscular atrophy,"['smax2', 'spinal muscular atrophy with arthrogryposis', 'x-linked distal arthrogryposis multiplex congenita', 'x-linked spinal muscular atrophy type 2']" +"""GARD:0008526""",diffuse panbronchiolitis,[] +"""GARD:0008527""","pulmonary venoocclusive disease 2, autosomal recessive",['hemangiomatosis; familial pulmonary capillary'] +"""GARD:0008528""",hellp syndrome,"['hemolysis; elevated liver enzymes; low platelets in pregnancy', 'hemolysis-elevated liver enzymes-low platelets syndrome']" +"""GARD:0008529""",macrodactyly of fingers,['macrodactyly of hand'] +"""GARD:0008530""",male infertility with azoospermia or oligozoospermia due to single gene mutation,[] +"""GARD:0008531""",3mc syndrome 3,"['facial clefting syndrome; gypsy type', 'malpuech facial clefting syndrome; formerly']" +"""GARD:0008532""",attenuated familial adenomatous polyposis,"['afap', 'attenuated fap', 'attenuated familial polyposis coli']" +"""GARD:0008533""",hereditary nonpolyposis colon cancer,"['familial nonpolyposis colon cancer', 'familial nonpolyposis colorectal cancer', 'hnpcc', 'hereditary nonpolyposis colorectal cancer']" +"""GARD:0008535""",congenital central hypoventilation syndrome,"['cchs', 'congenital central alveolar hypoventilation syndrome', 'ondine curse', 'ondine syndrome']" +"""GARD:0008538""","46,xy disorder of sex development",['46;xy dsd'] +"""GARD:0008539""",urocanic aciduria,['encephalopathy due to urocanase deficiency'] +"""GARD:0008541""",primary progressive aphasia,"['mesulam syndrome', 'ppa']" +"""GARD:0008542""",chondrodysplasia punctata,['cdp'] +"""GARD:0008547""",gitelman syndrome,[] +"""GARD:0008548""",charcot-marie-tooth disease type 2b1,"['ar-cmt2b1', 'autosomal recessive charcot-marie-tooth disease type 2b1', 'autosomal recessive axonal cmt4c1']" +"""GARD:0008549""",moebius syndrome,['möbius syndrome'] +"""GARD:0008550""",dermatopathia pigmentosa reticularis,[] +"""GARD:0008553""",infantile convulsions and choreoathetosis,"['icca syndrome', 'paroxysmal kinesigenic dyskinesia and infantile convulsions']" +"""GARD:0008555""",dense deposit disease,['membranoproliferative glomerulonephritis type 2'] +"""GARD:0008557""","intellectual developmental disorder, x-linked 14",[] +"""GARD:0008559""",wilms tumor 2,[] +"""GARD:0008562""",seckel syndrome,[] +"""GARD:0008563""",primary orthostatic tremor,['pot'] +"""GARD:0008570""",steroid-responsive encephalopathy associated with autoimmune thyroiditis,"['hashimoto encephalitis', 'sreat']" +"""GARD:0008573""",delta-sarcoglycan-related limb-girdle muscular dystrophy r6,"['autosomal recessive limb-girdle muscular dystrophy type 2f', 'delta-sarcoglycan-related lgmd r6', 'delta-sarcoglycanopathy', 'lgmd due to delta-sarcoglycan deficiency', 'lgmd type 2f', 'lgmd2f', 'limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency', 'limb-girdle muscular dystrophy type 2f']" +"""GARD:0008574""",dysferlin-related limb-girdle muscular dystrophy r2,"['autosomal recessive limb-girdle muscular dystrophy type 2b', 'dysferlin-related lgmd r2', 'lgmd due to dysferlin deficiency', 'lgmd type 2b', 'lgmd2b', 'limb-girdle muscular dystrophy due to dysferlin deficiency', 'limb-girdle muscular dystrophy type 2b']" +"""GARD:0008577""",panuveitis,['total uveitis'] +"""GARD:0008578""","parkinson disease 3, autosomal dominant",[] +"""GARD:0008580""",vitamin k antagonist embryofetopathy,"['vitamin k antagonist embryopathy', 'warfarin embryofetopathy', 'warfarin embryopathy', 'di sala syndrome']" +"""GARD:0008583""",isolated hereditary congenital facial paralysis,[] +"""GARD:0008585""",cantú syndrome,"['congenital hypertrichosis-acromegaloid facial features spectrum', 'congenital hypertrichosis-coarse facial features spectrum', 'hypertrichotic osteochondrodysplasia']" +"""GARD:0008586""","cardiocranial syndrome, pfeiffer type","['craniosynostosis-congenital heart disease-intellectual disability syndrome', 'pfeiffer-singer-zschiesche syndrome']" +"""GARD:0008588""","hypercholesterolemia, familial, 2","['hypercholesterolemia; familial; due to ligand-defective apolipoprotein b', 'hypercholesterolemia; autosomal dominant; type b', 'apolipoprotein b-100; familial ligand-defective', 'apolipoprotein b-100; familial defective']" +"""GARD:0008591""",x-linked visceral heterotaxy 1,"['htx1', 'laterality; x-linked', 'situs inversus; complex cardiac defects; and splenic defects; x-linked', 'heterotaxy; visceral; 1; x-linked', 'heterotaxy; visceral; x-linked']" +"""GARD:0008592""",spinal muscular atrophy with respiratory distress type 1,"['autosomal recessive distal spinal muscular atrophy type 1', 'autosomal recessive spinal muscular atrophy with respiratory distress', 'diaphragmatic spinal muscular atrophy', 'distal hereditary motor neuropathy type 6', 'distal-hmn type 6', 'sianrf', 'smard1', 'severe infantile axonal neuropathy with respiratory failure type 1', 'dhmn6', 'dsma1']" +"""GARD:0008593""",morgagni-stewart-morel syndrome,['hyperostosis frontalis interna'] +"""GARD:0008595""",ataxia with vitamin e deficiency,"['aved', 'ataxia with isolated vitamin e deficiency', 'familial isolated vitamin e deficiency', 'friedreich-like ataxia', 'isolated vitamin e deficiency']" +"""GARD:0008598""",gastrointestinal stromal tumor,"['gist', 'gastrointestinal stromal sarcoma']" +"""GARD:0008600""",saldino-mainzer syndrome,"['conorenal syndrome', 'renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome']" +"""GARD:0008605""",acquired angioedema,"['aae', 'acquired c1 inhibitor deficiency', 'acquired angioneurotic edema', 'acquired bradykinine-induced angioedema', 'acquired non histamine-induced angioedema']" +"""GARD:0008606""",amish lethal microcephaly,[] +"""GARD:0008609""",idiopathic pulmonary fibrosis,['ipf'] +"""GARD:0008610""",harlequin syndrome,['progressive isolated segmental anhidrosis'] +"""GARD:0008614""",sickle cell anemia,[] +"""GARD:0008616""",systemic mastocytosis,[] +"""GARD:0008618""",primary myelofibrosis,"['agnogenic myeloid metaplasia', 'idiopathic myelofibrosis', 'myelofibrosis with myeloid metaplasia', 'osteomyelofibrosis']" +"""GARD:0008621""",uveal melanoma,"['choroidal melanoma', 'iris melanoma']" +"""GARD:0008622""",good syndrome,['thymoma-immunodeficiency syndrome'] +"""GARD:0008623""",microcephaly-cleft palate-abnormal retinal pigmentation syndrome,[] +"""GARD:0008625""",reticular dysgenesis,"['ak2 deficiency', 'congenital aleukocytosis', 'de vaal disease', 'generalized hematopoietic hypoplasia', 'scid with leukopenia', 'severe combined immunodeficiency with leukopenia']" +"""GARD:0008631""",monosomy 18p,"['18p- syndrome', 'de grouchy syndrome']" +"""GARD:0008638""",acute leukemia of ambiguous lineage,"['acute leukemia of indeterminate lineage', 'hybrid acute leukemia', 'mixed lineage acute leukemia']" +"""GARD:0008639""",acute disseminated encephalomyelitis,"['adem', 'acute disseminated encephalitis']" +"""GARD:0008640""",acute zonal occult outer retinopathy,['azoor'] +"""GARD:0008644""",congenital alveolar capillary dysplasia,"['acdmpv', 'alveolar capillary dysplasia with misalignment of pulmonary veins', 'alveolar capillary dysplasia with misalignment of pulmonary vessels']" +"""GARD:0008653""",erythema elevatum diutinum,[] +"""GARD:0008659""",fibular hemimelia,"['congenital longitudinal deficiency of the fibula', 'fibular longitudinal meromelia']" +"""GARD:0008660""",gerstmann syndrome,[] +"""GARD:0008661""",gastroschisis,['laparoschisis'] +"""GARD:0008663""",auriculoosteodysplasia,[] +"""GARD:0008672""",kleefstra syndrome,[] +"""GARD:0008683""",crigler-najjar syndrome type 2,"['bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2', 'bilirubin-ugt deficiency type 2']" +"""GARD:0008686""",autoimmune lymphoproliferative syndrome,"['alps', 'canale-smith syndrome']" +"""GARD:0008689""",severe immune-mediated enteropathy,"['autoimmune enteropathy', 'immune-mediated protracted diarrhea of infancy']" +"""GARD:0008692""",whooping cough,['pertussis'] +"""GARD:0008694""",osteogenesis imperfecta type 1,"['adair-dighton syndrome', 'mild osteogenesis imperfecta', 'non-deforming osteogenesis imperfecta', 'oi type 1', 'van der hoeve syndrome']" +"""GARD:0008695""",osteogenesis imperfecta type 3,"['oi type 3', 'progressive deforming osteogenesis imperfecta', 'severe osteogenesis imperfecta']" +"""GARD:0008696""",osteogenesis imperfecta type 4,['oi type 4'] +"""GARD:0008698""",gnathodiaphyseal dysplasia,['gdd'] +"""GARD:0008699""",osteogenesis imperfecta type 5,['oi type 5'] +"""GARD:0008700""","osteogenesis imperfecta, type vi",[] +"""GARD:0008701""","osteogenesis imperfecta, type vii","['oi; type vii', 'osteogenesis imperfecta; type iib; formerly']" +"""GARD:0008702""",atypical hemolytic uremic syndrome,"['atypical hus', 'ahus']" +"""GARD:0008703""",primary angiitis of the central nervous system,"['isolated angiitis of the central nervous system', 'pacns', 'pcnsv', 'primary central nervous system vasculitis', 'primary vasculitis of the central nervous system']" +"""GARD:0008707""",tibial hemimelia,"['congenital absence of tibia', 'congenital aplasia and dysplasia of the tibia with intact fibula', 'congenital longitudinal deficiency of the tibia', 'tibial longitudinal meromelia']" +"""GARD:0008709""",patella aplasia/hypoplasia,['ptlah'] +"""GARD:0008711""",spheroid body myopathy,[] +"""GARD:0008713""",achondrogenesis type 2,['achondrogenesis; langer-saldino type'] +"""GARD:0008717""",odontochondrodysplasia,"['chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome', 'goldblatt chondrodysplasia', 'goldblatt syndrome', 'odcd']" +"""GARD:0008719""",spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,[] +"""GARD:0008720""",axial spondylometaphyseal dysplasia,[] +"""GARD:0008721""",paroxysmal kinesigenic dyskinesia,"['familial pkd', 'familial paroxysmal kinesigenic dyskinesia', 'paroxysmal kinesigenic choreathetosis']" +"""GARD:0008722""",paroxysmal non-kinesigenic dyskinesia,['paroxystic non-kinesigenic choreoathetosis'] +"""GARD:0008723""",myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,['5q- syndrome'] +"""GARD:0008732""",hemophilia b,"['christmas disease', 'congenital f9 deficiency', 'congenital factor ix deficiency']" +"""GARD:0008735""",childhood-onset hypophosphatasia,"['childhood-onset rathbun disease', 'childhood-onset phosphoethanolaminuria']" +"""GARD:0008737""",idiopathic hypersomnia,['idiopathic excessive sleepiness'] +"""GARD:0008743""","meckel syndrome, type 2",['meckel-gruber syndrome; type 2'] +"""GARD:0008744""","meckel syndrome, type 3",['meckel-gruber syndrome; type 3'] +"""GARD:0008754""",greenberg dysplasia,"['hem dysplasia', 'hydrops-ectopic calcification-motheaten syndrome', 'skeletal dysplasia; greenberg type']" +"""GARD:0008755""",arrhinia-choanal atresia-microphthalmia syndrome,[] +"""GARD:0008756""",lethal ataxia with deafness and optic atrophy,"['arts syndrome', 'lethal ataxia with hearing loss and optic atrophy']" +"""GARD:0008757""",pleuropulmonary blastoma,[] +"""GARD:0008759""",ocular cicatricial pemphigoid,[] +"""GARD:0009118""",primary fanconi renotubular syndrome,"['detoni-debré-fanconi syndrome', 'primary fanconi renal syndrome']" +"""GARD:0009119""",pulmonary agenesis,[] +"""GARD:0009124""",treacher-collins syndrome,"['franceschetti-klein syndrome', 'mandibulofacial dysostosis without limb anomalies']" +"""GARD:0009125""",treacher collins syndrome 3,['mandibulofacial dysostosis; treacher collins type; autosomal recessive'] +"""GARD:0009126""",agnathia-holoprosencephaly-situs inversus syndrome,[] +"""GARD:0009128""",idiopathic inflammatory myopathy,"['imm', 'idiopathic inflammatory myositis']" +"""GARD:0009138""",congenital muscular dystrophy,"['cmd', 'mdc']" +"""GARD:0009142""",eosinophilic gastroenteritis,"['ege', 'eosinophilic enteritis', 'eosinophilic gastroenterocolitis']" +"""GARD:0009145""",renal pseudohypoaldosteronism type 1,"['autosomal dominant pha1', 'autosomal dominant pseudohypoaldosteronism type 1', 'renal pha1']" +"""GARD:0009146""",cardiofaciocutaneous syndrome,['cfc syndrome'] +"""GARD:0009149""",retinitis pigmentosa 1,[] +"""GARD:0009151""",3-methylcrotonyl-coa carboxylase 2 deficiency,"['3-methylcrotonylglycinuria ii', 'mcc2 deficiency', 'methylcrotonylglycinuria; type ii']" +"""GARD:0009152""",congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,['cah due to 3-beta-hydroxysteroid dehydrogenase deficiency'] +"""GARD:0009156""",syndromic x-linked intellectual disability 7,"['mrxs7', 'x-linked intellectual disability; ahmad type']" +"""GARD:0009157""","x-linked intellectual disability, abidi type",[] +"""GARD:0009158""",brody myopathy,[] +"""GARD:0009159""","46,xy sex reversal 2","['dosage-sensitive sex reversal', '46;xy sex reversal; dax1-related']" +"""GARD:0009161""",alpha-n-acetylgalactosaminidase deficiency type 2,"['adult-onset alpha-n-acetylgalactosaminidase deficiency', 'kanzaki disease', 'naga deficiency type 2', 'schindler disease type 2']" +"""GARD:0009163""",roifman syndrome,['spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome'] +"""GARD:0009164""",rippling muscle disease,[] +"""GARD:0009165""",rippling muscle disease 1,[] +"""GARD:0009166""","deafness, autosomal dominant 24",[] +"""GARD:0009167""","deafness, autosomal dominant 22",[] +"""GARD:0009168""",familial expansile osteolysis,"['hereditary expansile polyostotic osteolytic dysplasia', 'mccabe disease']" +"""GARD:0009169""",adan amyloidosis,['familial dementia; danish type'] +"""GARD:0009170""",hypotrichosis simplex,['hereditary hypotrichosis simplex'] +"""GARD:0009172""","palmoplantar keratoderma i, striate, focal, or diffuse","['keratosis palmoplantaris striata i', 'striate palmoplantar keratoderma i', 'keratoderma; palmoplantar; striate form i']" +"""GARD:0009173""",keratosis palmoplantaris striata iii,"['striate palmoplantar keratoderma iii', 'keratoderma; palmoplantar; striate form iii']" +"""GARD:0009174""",kufor-rakeb syndrome,['park9'] +"""GARD:0009175""",parkinsonian-pyramidal syndrome,['pallidopyramidal syndrome'] +"""GARD:0009176""",pyogenic arthritis-pyoderma gangrenosum-acne syndrome,"['fra', 'familial recurrent arthritis', 'papa syndrome']" +"""GARD:0009177""",lethal congenital contracture syndrome type 2,"['lccs2', 'multiple contracture syndrome; israeli-bedouin type']" +"""GARD:0009178""",mehmo syndrome,['x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome'] +"""GARD:0009179""",north carolina macular dystrophy,"['cape dystrophy', 'caped', 'central areolar pigment epithelial dystrophy', 'central retinal pigment epithelial dystrophy', 'mcdr1', 'ncmd', 'north carolina macular dystrophy; retinal 1', 'progressive foveal dystrophy']" +"""GARD:0009180""",primary membranous glomerulonephritis,"['idiopathic membranous glomerulonephritis', 'primary membranous nephropathy']" +"""GARD:0009181""",familial abdominal aortic aneurysm,[] +"""GARD:0009182""",okihiro syndrome,['duane-radial ray syndrome'] +"""GARD:0009184""",progressive pseudorheumatoid arthropathy of childhood,['spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome'] +"""GARD:0009185""",mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency,"['msmd due to complete ifngammar1 deficiency', 'msmd due to complete interferon gamma receptor 1 deficiency', 'mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency']" +"""GARD:0009189""",charcot-marie-tooth disease type 1d,['cmt1d'] +"""GARD:0009190""",charcot-marie-tooth disease type 1e,"['cmt1e', 'charcot-marie-tooth disease-deafness syndrome', 'charcot-marie-tooth disease-hearing loss syndrome']" +"""GARD:0009191""",charcot-marie-tooth disease type 1f,['cmt1f'] +"""GARD:0009192""",autosomal dominant charcot-marie-tooth disease type 2b,['cmt2b'] +"""GARD:0009193""",autosomal dominant charcot-marie-tooth disease type 2e,['cmt2e'] +"""GARD:0009194""",autosomal dominant charcot-marie-tooth disease type 2f,['cmt2f'] +"""GARD:0009195""",autosomal dominant charcot-marie-tooth disease type 2g,['cmt2g'] +"""GARD:0009196""",charcot-marie-tooth disease type 2h,"['ar-cmt2c', 'autosomal recessive axonal cmt4c2', 'axonal charcot-marie-tooth disease with pyramidal involvement', 'cmt2h']" +"""GARD:0009197""",autosomal dominant charcot-marie-tooth disease type 2i,['cmt2i'] +"""GARD:0009198""",autosomal dominant charcot-marie-tooth disease type 2j,['cmt2j'] +"""GARD:0009199""",autosomal dominant charcot-marie-tooth disease type 2k,['cmt2k'] +"""GARD:0009200""",charcot-marie-tooth disease type 4b2,['cmt4b2'] +"""GARD:0009201""",charcot-marie-tooth disease type 4c,['cmt4c'] +"""GARD:0009203""",charcot-marie-tooth disease type 4e,"['autosomal recessive congenital hypomyelinating neuropathy', 'cmt4e']" +"""GARD:0009204""",dejerine-sottas syndrome,"['charcot-marie-tooth disease type 3', 'hmsn 3', 'hmsn iii', 'hereditary motor and sensory neuropathy type 3', 'hereditary motor and sensory neuropathy type iii']" +"""GARD:0009206""",autosomal dominant intermediate charcot-marie-tooth disease type f,['cmtdif'] +"""GARD:0009207""",autosomal dominant intermediate charcot-marie-tooth disease type d,['cmtdid'] +"""GARD:0009208""",hereditary motor and sensory neuropathy type 5,"['charcot-marie-tooth disease-pyramidal features syndrome', 'hmsn 5', 'hmsn v', 'hereditary motor and sensory neuropathy type v']" +"""GARD:0009210""",thiamine-responsive megaloblastic anemia syndrome,"['rogers syndrome', 'trma', 'thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness', 'thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss']" +"""GARD:0009212""","phocomelia, schinzel type","['al awadi-raas-rothschild syndrome', 'aplasia/hypoplasia of limbs and pelvis', 'congenital absence of ulna and fibula', 'severe limb deficit']" +"""GARD:0009217""",lymphedema-cerebral arteriovenous anomaly syndrome,[] +"""GARD:0009225""",tarsal-carpal coalition syndrome,[] +"""GARD:0009228""",renal agenesis,[] +"""GARD:0009232""",arnold-chiari malformation type ii,"['arnold-chiari malformation type 2', 'chiari malformation type 2', 'chiari malformation type ii']" +"""GARD:0009233""",arnold-chiari malformation type i,"['arnold-chiari malformation type 1', 'chiari malformation type 1', 'chiari malformation type i']" +"""GARD:0009237""",severe acute respiratory syndrome,"['sars', 'sars-1']" +"""GARD:0009239""",parkinson-dementia complex of guam,"['g-pdc', 'guam disease', 'guam parkinsonism-dementia complex', 'lytico-bodig disease']" +"""GARD:0009242""",familial advanced sleep-phase syndrome,['fasps'] +"""GARD:0009247""",primary effusion lymphoma,"['body cavity-based lymphoma', 'pel']" +"""GARD:0009252""",tubulointerstitial nephritis and uveitis syndrome,"['acute tubulointerstitial nephritis and uveitis syndrome', 'dobrin syndrome', 'tinu syndrome']" +"""GARD:0009255""",early infantile epileptic encephalopathy,"['eiee', 'early infantile epileptic encephalopathy with suppression-bursts', 'ohtahara syndrome']" +"""GARD:0009257""",sunct syndrome,['short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing'] +"""GARD:0009258""",perineural cyst,['tarlov cyst'] +"""GARD:0009265""",classic glucose transporter type 1 deficiency syndrome,"['classic glut1 deficiency syndrome', 'classic glut1-ds', 'de vivo disease', 'encephalopathy due to glut1 deficiency']" +"""GARD:0009266""",cutaneous neuroendocrine carcinoma,"['mcc', 'merkel cell carcinoma']" +"""GARD:0009268""",glomerulopathy with fibronectin deposits 1,[] +"""GARD:0009275""",thiel-behnke corneal dystrophy,"['anterior limiting membrane dystrophy type 2', 'anterior limiting membrane dystrophy type ii', 'corneal dystrophy of bowman layer type 2', 'corneal dystrophy of bowman layer type ii', 'curly fiber corneal dystrophy', 'honeycomb corneal dystrophy', 'tbcd', 'waardenburg-jonker corneal dystrophy']" +"""GARD:0009276""",reis-bücklers corneal dystrophy,"['anterior limiting membrane dystrophy type 1', 'anterior limiting membrane dystrophy type i', 'atypical granular corneal dystrophy', 'corneal dystrophy of bowman layer type 1', 'corneal dystrophy of bowman layer type i', 'geographic corneal dystrophy', 'granular corneal dystrophy type 3', 'granular corneal dystrophy type iii', 'rbcd', 'superficial granular corneal dystrophy']" +"""GARD:0009277""",schnyder corneal dystrophy,"['crystalline stromal dystrophy', 'hereditary crystalline stromal dystrophy of schnyder', 'sccd', 'scd', 'schnyder crystalline corneal dystrophy', 'schnyder crystalline dystrophy sine crystals']" +"""GARD:0009278""",granular corneal dystrophy type ii,"['avellino corneal dystrophy', 'gcd2', 'gcdii', 'granular corneal dystrophy type 2', 'granular-lattice corneal dystrophy']" +"""GARD:0009279""",formiminoglutamic aciduria,"['ftcd deficiency', 'formiminotransferase cyclodeaminase deficiency', 'glutamate formiminotransferase deficiency']" +"""GARD:0009280""",cholestasis-pigmentary retinopathy-cleft palate syndrome,['hardikar syndrome'] +"""GARD:0009281""",familial atypical multiple mole melanoma syndrome,"['b-k mole syndrome', 'famm-pc syndrome', 'fammm syndrome', 'familial atypical mole syndrome', 'familial atypical multiple mole melanoma-pancreatic carcinoma syndrome', 'familial dysplastic nevus syndrome']" +"""GARD:0009282""",white platelet syndrome,[] +"""GARD:0009283""",ataxia-oculomotor apraxia type 1,['aoa1'] +"""GARD:0009285""",amoebic keratitis,[] +"""GARD:0009287""",atelosteogenesis type i,"['ao1', 'aoi', 'atelosteogenesis type 1', 'giant cell chondrodysplasia', 'spondylo-humero-femoral dysplasia']" +"""GARD:0009288""","x-linked intellectual disability, schimke type",[] +"""GARD:0009292""",microphthalmia-brain atrophy syndrome,"['mcops10', 'moba syndrome', 'syndromic microphthalmia type 10']" +"""GARD:0009294""",timothy syndrome,"['lqt8', 'long qt syndrome type 8', 'long qt syndrome-syndactyly syndrome']" +"""GARD:0009295""",thanatophoric dysplasia type 1,"['td1', 'thanatophoric dwarfism type 1']" +"""GARD:0009296""",autosomal recessive spastic paraplegia type 24,['spg24'] +"""GARD:0009297""",whim syndrome,"['wilm', 'warts-hypogammaglobulinemia-infections-myelokathexis syndrome', 'warts-infections-leukopenia-myelokatexis syndrome']" +"""GARD:0009298""",pyridoxine-dependent epilepsy,"['antiquitin deficiency', 'vitamin b6-dependent seizures']" +"""GARD:0009299""",acute ackee fruit intoxication,"['acute intoxication by blighia sapida', 'jamaican vomiting sickness', 'jamaican vomiting syndrome']" +"""GARD:0009304""",cholangiocarcinoma,"['bile duct cancer', 'cca']" +"""GARD:0009316""",neuroendocrine neoplasm,[] +"""GARD:0009318""",primary central nervous system lymphoma,"['pcnsl', 'primary cns lymphoma', 'primary brain lymphoma']" +"""GARD:0009319""",myeloproliferative neoplasm,"['mpd', 'mpn', 'myeloproliferative disorder']" +"""GARD:0009325""",extragonadal germ cell tumor,[] +"""GARD:0009330""",malignant germ cell tumor of ovary,"['mogct', 'malignant ovarian germ cell tumor', 'ovarian germ cell cancer']" +"""GARD:0009331""",pediatric hepatocellular carcinoma,"['childhood-onset hcc', 'childhood-onset hepatocellular carcinoma', 'pediatric hcc']" +"""GARD:0009344""",small cell lung cancer,['sclc'] +"""GARD:0009348""",vaginal carcinoma,['vaginal malignant epithelial tumor'] +"""GARD:0009349""",vulvar carcinoma,['carcinoma of vulva'] +"""GARD:0009351""",myelodysplastic/myeloproliferative disease,[] +"""GARD:0009362""",malignant epithelial tumor of ovary,"['epithelial cancer of ovary', 'ovarian epithelial cancer', 'ovarian malignant epithelial tumor']" +"""GARD:0009363""",borderline epithelial tumor of ovary,"['borderline ovarian epithelial tumor', 'ovarian tumor of low malignant potential']" +"""GARD:0009364""",rare tumor of pancreas,['rare pancreatic tumor'] +"""GARD:0009366""",malignant tumor of penis,"['cancer of penis', 'malignant penile tumor', 'penile cancer']" +"""GARD:0009369""",pineoblastoma,[] +"""GARD:0009371""",pituitary carcinoma,[] +"""GARD:0009373""",plasma cell leukemia,['pcl'] +"""GARD:0009376""",upper tract urothelial carcinoma,"['transitional cell carcinoma of the pelvis and ureter', 'transitional cell carcinoma of the upper urinary tract', 'utuc']" +"""GARD:0009400""",tako-tsubo cardiomyopathy,"['ampulla cardiomyopathy', 'apical ballooning syndrome', 'ballooning cardiomyopathy', 'broken heart syndrome', 'stress cardiomyopathy', 'tako-tsubo syndrome', 'takotsubo cardiomyopathy', 'takotsubo syndrome', 'transient left ventricular apical ballooning syndrome']" +"""GARD:0009404""",phyllodes tumor of the prostate,"['cystic epithelial-stromal tumors of the prostate', 'cystosarcoma phyllodes of the prostate', 'phyllodes type of atypical prostatic hyperplasia']" +"""GARD:0009412""",x-linked cerebral adrenoleukodystrophy,['x-cald'] +"""GARD:0009418""",cochleosaccular degeneration-cataract syndrome,[] +"""GARD:0009420""",pierson syndrome,['microcoria-congenital nephrosis syndrome'] +"""GARD:0009428""","thyroid carcinoma, hurthle cell",['hurthle cell thyroid neoplasia'] +"""GARD:0009429""",rhizomelic chondrodysplasia punctata type 2,[] +"""GARD:0009430""",congenital thrombotic thrombocytopenic purpura,"['congenital adamts-13 deficiency', 'congenital ttp', 'familial ttp', 'upshaw-schulman syndrome']" +"""GARD:0009433""",organic aciduria,[] +"""GARD:0009435""",hermansky-pudlak syndrome 2,[] +"""GARD:0009441""",temple-baraitser syndrome,"['severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome', 'tmbts']" +"""GARD:0009442""",glycogen storage disease due to glycogen debranching enzyme deficiency,"['amylo-1;6-glucosidase deficiency', 'cori disease', 'cori-forbes disease', 'forbes disease', 'gde deficiency', 'gsd due to glycogen debranching enzyme deficiency', 'gsd type 3', 'gsdiii', 'glycogen storage disease type 3', 'glycogen storage disease type iii', 'glycogenosis due to glycogen debranching enzyme deficiency', 'glycogenosis type 3', 'glycogenosis type iii', 'limit dextrinosis']" +"""GARD:0009443""",severe achondroplasia-developmental delay-acanthosis nigricans syndrome,['saddan'] +"""GARD:0009444""",marburg hemorrhagic fever,"['green monkey disease', 'mhf', 'marburg virus disease']" +"""GARD:0009447""",infantile neuronal ceroid lipofuscinosis,"['hagberg-santavuori disease', 'incl', 'infantile ncl', 'santavuori disease', 'santavuori-haltia disease']" +"""GARD:0009448""",camptodactyly of fingers,[] +"""GARD:0009449""",waterhouse-friderichsen syndrome,[] +"""GARD:0009450""",familial juvenile hypertrophy of the breast,"['familial juvenile gigantomastia', 'virginal breast hypertrophy']" +"""GARD:0009452""",pilomatrixoma,"['epithelioma calcificans of malherbe', 'pilomatricoma']" +"""GARD:0009453""",andersen-tawil syndrome,"['andersen syndrome', 'lqt7', 'long qt syndrome type 7']" +"""GARD:0009455""",joubert syndrome with oculorenal defect,"['arima syndrome', 'cors', 'cerebellooculorenal syndrome', 'dekaban-arima syndrome', 'js type b', 'js-or', 'joubert syndrome with senior-loken syndrome']" +"""GARD:0009456""",x-linked sideroblastic anemia,['xlsa'] +"""GARD:0009457""",isolated polycystic liver disease,"['adpcld', 'autosomal dominant polycystic liver disease', 'pcld']" +"""GARD:0009458""",loeys-dietz syndrome 1,"['furlong syndrome', 'aortic aneurysm; familial thoracic 5', 'loeys-dietz aortic aneurysm syndrome']" +"""GARD:0009463""",pseudodiastrophic dysplasia,[] +"""GARD:0009465""","alzheimer disease, familial, 1",['presenile and senile dementia'] +"""GARD:0009472""",anaplastic oligodendroglioma,[] +"""GARD:0009474""",melorheostosis,[] +"""GARD:0009479""",vitamin b12-responsive methylmalonic acidemia type cblb,['vitamin b12-responsive methylmalonic aciduria; type cblb'] +"""GARD:0009481""",autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,"['pkdts', 'tsc2/pkd1 contiguous gene syndrome', 'tuberous sclerosis/polycystic kidney disease contiguous gene syndrome']" +"""GARD:0009484""",superficial siderosis,"['hemosiderosis of the central nervous system', 'superficial hemosiderosis of the cns', 'superficial hemosiderosis of the central nervous system', 'superficial siderosis of the cns', 'superficial siderosis of the central nervous system']" +"""GARD:0009485""","glaucoma 1, open angle, a",['glaucoma; primary open angle; juvenile-onset; 1'] +"""GARD:0009486""",isolated congenital anosmia,[] +"""GARD:0009487""",cyprus facial-neuromusculoskeletal syndrome,[] +"""GARD:0009489""",isolated congenital breast hypoplasia/aplasia,['isolated congenital amastia'] +"""GARD:0009491""",leber congenital amaurosis 9,[] +"""GARD:0009492""",cataract 35,[] +"""GARD:0009493""",gne myopathy,"['dmrv', 'distal myopathy with rimmed vacuoles', 'distal myopathy; nonaka type', 'hibm2', 'hereditary inclusion body myopathy type 2', 'ibm2', 'inclusion body myopathy type 2', 'nonaka myopathy', 'quadriceps-sparing myopathy']" +"""GARD:0009494""",hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,"['hibm3', 'hereditary inclusion body myopathy type 3', 'ibm3', 'inclusion body myopathy type 3']" +"""GARD:0009495""","amelogenesis imperfecta, hypomaturation type, iia1",['amelogenesis imperfecta; pigmented hypomaturation type; 1'] +"""GARD:0009496""",hereditary renal hypouricemia,[] +"""GARD:0009499""",aceruloplasminemia,['hereditary ceruloplasmin deficiency'] +"""GARD:0009501""",hereditary geniospasm,"['familial trembling of the chin', 'hereditary chin myoclonus', 'hereditary chin-trembling']" +"""GARD:0009504""","porokeratosis 4, disseminated superficial actinic type",[] +"""GARD:0009505""","porokeratosis 3, multiple types",['porokeratosis; disseminated superficial actinic; 1'] +"""GARD:0009506""",craniosynostosis-anal anomalies-porokeratosis syndrome,"['cap syndrome', 'cdags syndrome']" +"""GARD:0009508""",cerulean cataract,['blue-dot cataract'] +"""GARD:0009509""",renpenning syndrome,"['x-linked intellectual disability due to pqbp1 mutations', 'x-linked intellectual disability; renpenning type']" +"""GARD:0009511""",histiocytoid cardiomyopathy,"['foamy myocardial transformation of infancy', 'infantile cardiomyopathy with histiocytoid change', 'infantile xanthomatous cardiomyopathy', 'oncocytic cardiomyopathy']" +"""GARD:0009514""",phyllodes tumor of the breast,[] +"""GARD:0009517""",bilateral multicystic dysplastic kidney,"['bilateral mcdk', 'bilateral multicystic renal dysplasia']" +"""GARD:0009525""",coccidioidomycosis,"['california disease', 'coccidioides infection', 'desert fever', 'desert rheumatism', 'san joaquin valley fever', 'valley fever']" +"""GARD:0009528""",cyclosporosis,[] +"""GARD:0009534""",chronic epstein-barr virus infection syndrome,"['caebv syndrome', 'chronic ebv infection syndrome']" +"""GARD:0009535""",familial cold urticaria,"['fcas', 'fcu', 'familial cold autoinflammatory syndrome']" +"""GARD:0009546""",melioidosis,[] +"""GARD:0009550""",variant creutzfeldt-jakob disease,"['variant mcj', 'vcjd']" +"""GARD:0009553""",post-transplant lymphoproliferative disease,['ptld'] +"""GARD:0009557""",rat-bite fever,[] +"""GARD:0009558""",autosomal dominant severe congenital neutropenia,[] +"""GARD:0009560""",bacterial toxic-shock syndrome,['bacterial tss'] +"""GARD:0009564""",typhoid,"['typhoid fever', 'typhoidal salmonellosis']" +"""GARD:0009568""",igg4-related retroperitoneal fibrosis,"['idiopathic retroperitoneal fibrosis', 'ormond disease']" +"""GARD:0009569""",dermatofibrosarcoma protuberans,['dfsp'] +"""GARD:0009571""",hereditary clear cell renal cell carcinoma,['hereditary clear cell renal cell adenocarcinoma'] +"""GARD:0009572""",papillary renal cell carcinoma,['papillary renal cell adenocarcinoma'] +"""GARD:0009573""",collecting duct carcinoma,"['bdc', 'bellini carcinoma', 'bellini duct carcinoma', 'cdc']" +"""GARD:0009574""",clear cell renal carcinoma,"['ccrcc', 'clear cell renal cell adenocarcinoma', 'clear cell renal cell carcinoma']" +"""GARD:0009578""",acute fatty liver of pregnancy,['aflp'] +"""GARD:0009581""",autosomal recessive spastic paraplegia type 15,"['hereditary spastic paraparesis type 15', 'kjellin syndrome', 'spg15', 'spastic paraplegia-retinal degeneration syndrome']" +"""GARD:0009582""",autosomal recessive spastic paraplegia type 25,"['autosomal recessive spastic paraplegia-disc herniation syndrome', 'spg25']" +"""GARD:0009583""",autosomal dominant spastic paraplegia type 9a,"['ad-spg9a', 'cataracts-motor neuropathy-short stature-skeletal anomalies syndrome', 'spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome']" +"""GARD:0009585""",x-linked spastic paraplegia type 16,['spg16'] +"""GARD:0009586""",autosomal dominant spastic paraplegia type 12,['spg12'] +"""GARD:0009587""",autosomal recessive spastic paraplegia type 26,"['gm2 synthase deficiency', 'spg26']" +"""GARD:0009588""",autosomal dominant spastic paraplegia type 19,['spg19'] +"""GARD:0009589""",autosomal recessive spastic paraplegia type 14,['spg14'] +"""GARD:0009590""",autosomal dominant spastic paraplegia type 10,['spg10'] +"""GARD:0009591""",autosomal dominant spastic paraplegia type 8,['spg8'] +"""GARD:0009595""",congenital atransferrinemia,['congenital hypotransferrinemia'] +"""GARD:0009598""","basal ganglia calcification, idiopathic, childhood-onset","['cerebral calcification; nonarteriosclerotic; idiopathic; childhood-onset', 'striopallidodentate calcinosis; bilateral; childhood-onset', 'ibgc; childhood-onset']" +"""GARD:0009602""",familial paroxysmal ataxia,['episodic ataxia type 2'] +"""GARD:0009611""",spinocerebellar ataxia type 13,['sca13'] +"""GARD:0009615""",giant cell arteritis,"['horton disease', 'temporal arteritis']" +"""GARD:0009616""",autosomal dominant spastic paraplegia type 13,['spg13'] +"""GARD:0009620""",acute erythroid leukemia,"['aml m6', 'acute myeloid leukemia m6', 'erythroleukemia']" +"""GARD:0009621""",polyembryoma,[] +"""GARD:0009626""","axenfeld-rieger syndrome, type 3","['rieger syndrome; type 3', 'anterior chamber cleavage syndrome', 'axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss']" +"""GARD:0009628""",rapid-onset dystonia-parkinsonism,"['dyt12', 'dystonia 12']" +"""GARD:0009630""","primary dystonia, dyt6 type","['dyt6', 'generalized cervical and upper-limb-onset dystonia', 'idiopathic torsion dystonia of mixed type']" +"""GARD:0009631""",torsion dystonia with onset in infancy,[] +"""GARD:0009632""",odontoleukodystrophy,"['dentoleukoencephalopathy', 'leukodystrophy with oligodontia']" +"""GARD:0009633""","fundus dystrophy, pseudoinflammatory, recessive form","['pfd; lavia type', 'pfd; finnish type']" +"""GARD:0009634""",fetal akinesia deformation sequence,"['arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome', 'fads', 'pena-shokeir syndrome type 1']" +"""GARD:0009635""",pruritic urticarial papules and plaques of pregnancy,"['puppp', 'polymorphic eruption of pregnancy']" +"""GARD:0009640""",autosomal agammaglobulinemia,['agammaglobulinemia; non-bruton type'] +"""GARD:0009642""","parkinson disease 2, autosomal recessive juvenile","['parkinsonism; early-onset; with diurnal fluctuation', 'parkinson disease; juvenile; autosomal recessive']" +"""GARD:0009643""",pseudoxanthoma elasticum,"['gronblad-strandberg-touraine syndrome', 'pxe']" +"""GARD:0009647""",gelatinous drop-like corneal dystrophy,"['gdcd', 'primary familial amyloidosis of the cornea', 'subepithelial amyloidosis of the cornea']" +"""GARD:0009649""",achromatopsia 2,"['colorblindness; total', 'rod monochromatism 2', 'rod monochromacy 2']" +"""GARD:0009650""",achromatopsia 3,"['achromatopsia with myopia', 'rod monochromacy 1; formerly', 'total colorblindness with myopia', 'pingelapese blindness', 'achm1; formerly', 'rod monochromatism 1; formerly']" +"""GARD:0009652""",oncogenic osteomalacia,"['oncogenic hypophosphatemic osteomalacia', 'tio', 'tumor-induced osteomalacia']" +"""GARD:0009654""",hydroa vacciniforme,[] +"""GARD:0009657""",anauxetic dysplasia,"['spondyloepimetaphyseal dysplasia; menger type', 'spondyloepimetaphyseal dysplasia; anauxetic type']" +"""GARD:0009659""",bartter syndrome type 3,['bartter syndrome type iii'] +"""GARD:0009661""",leber congenital amaurosis 3,[] +"""GARD:0009662""",leber congenital amaurosis 4,[] +"""GARD:0009665""",gynandroblastoma,[] +"""GARD:0009670""",congenital factor xi deficiency,"['hemophilia c', 'pta deficiency', 'plasma thromboplastin antecedent deficiency', 'rosenthal factor deficiency', 'rosenthal syndrome']" +"""GARD:0009673""",mowat-wilson syndrome,['hirschsprung disease-intellectual disability syndrome'] +"""GARD:0009675""",isotretinoin-like syndrome,"['kawashima syndrome', 'microtia-aortic arch syndrome']" +"""GARD:0009676""",miyoshi myopathy,[] +"""GARD:0009677""",granular corneal dystrophy type i,"['classic gcd', 'classic granular corneal dystrophy', 'corneal dystrophy groenouw type i', 'gcd1', 'gcdi', 'granular corneal dystrophy type 1']" +"""GARD:0009678""",lattice corneal dystrophy type i,"['biber-haab-dimmer dystrophy', 'classic lattice corneal dystrophy', 'lcd1', 'lcdi', 'lattice corneal dystrophy type 1']" +"""GARD:0009679""",temtamy preaxial brachydactyly syndrome,[] +"""GARD:0009681""",rhyns syndrome,['retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome'] +"""GARD:0009682""",rhizomelic chondrodysplasia punctata type 3,[] +"""GARD:0009683""",chylomicron retention disease,"['anderson disease', 'cmrd', 'crd']" +"""GARD:0009684""",sandifer syndrome,[] +"""GARD:0009687""",schistosomiasis,['bilharziasis'] +"""GARD:0009688""",meesmann corneal dystrophy,"['juvenile hereditary epithelial dystrophy of meesmann', 'mecd']" +"""GARD:0009689""","myasthenic syndrome, congenital, 6, presynaptic","['myasthenic syndrome; presynaptic; congenital; associated with episodic apnea', 'myasthenia gravis; familial infantile; 2; formerly', 'cms ia2; formerly', 'myasthenia; familial infantile; formerly', 'congenital myasthenic syndrome type ia2; formerly']" +"""GARD:0009690""",kienbock disease,"['aseptic necrosis of the lunate bone', 'lunatomalacia', 'osteochondrosis of the lunate bone', 'progressive avascular necrosis of the lunate bone']" +"""GARD:0009692""",congenital patella dislocation,[] +"""GARD:0009694""",junctional epidermolysis bullosa with pyloric atresia,"['carmi syndrome', 'jeb with pyloric atresia', 'jeb-pa']" +"""GARD:0009696""",ring dermoid of cornea,['ring dermoid syndrome'] +"""GARD:0009697""",monomelic amyotrophy,"['benign focal amyotrophy', 'hirayama disease', 'jmadue', 'juvenile muscular atrophy of distal upper extremity', 'juvenile muscular atrophy of the distal upper limb']" +"""GARD:0009698""",recombinant 8 syndrome,"['duplication 8q/deletion 8p', 'rec(8) syndrome', 'rec8 syndrome', 'recombinant chromosome 8 syndrome', 'san luis valley syndrome']" +"""GARD:0009701""",spinal intradural arachnoid cysts,[] +"""GARD:0009703""","spondylocostal dysostosis 2, autosomal recessive",[] +"""GARD:0009704""","x-linked intellectual disability, siderius type",[] +"""GARD:0009705""",ectodermal dysplasia-skin fragility syndrome,['mcgrath syndrome'] +"""GARD:0009706""",snowflake vitreoretinal degeneration,[] +"""GARD:0009707""",familial cylindromatosis,['turban tumor syndrome'] +"""GARD:0009711""",lathosterolosis,['sterol c5-desaturase deficiency'] +"""GARD:0009715""",griscelli syndrome type 3,['griscelli-pruniéras syndrome type 3'] +"""GARD:0009723""",ectodermal dysplasia-sensorineural deafness syndrome,['ectodermal dysplasia-sensorineural hearing loss syndrome'] +"""GARD:0009725""",nephrogenic systemic fibrosis,['nephrogenic fibrosing dermopathy'] +"""GARD:0009726""","deafness, autosomal dominant 17",[] +"""GARD:0009728""",proximal myotonic myopathy,"['myotonic dystrophy type 2', 'proximal myotonic dystrophy', 'ricker disease', 'ricker syndrome']" +"""GARD:0009729""",autosomal dominant spastic paraplegia type 29,['spg29'] +"""GARD:0009730""",glycogen storage disease due to lamp-2 deficiency,"['danon disease', 'gsd due to lamp-2 deficiency', 'glycogenosis due to lamp-2 deficiency', 'lysosomal glycogen storage disease with normal acid maltase activity']" +"""GARD:0009732""",epithelial basement membrane dystrophy,"['anterior basement membrane dystrophy', 'cogan microcystic epithelial dystrophy', 'ebmd', 'map-dot-fingerprint dystrophy']" +"""GARD:0009733""","ichthyosis, congenital, autosomal recessive 4a","['ichthyosis; lamellar; 2; formerly', 'ichthyosis congenita iib']" +"""GARD:0009734""","ichthyosis, congenital, autosomal recessive 5","['ichthyosis congenita iii', 'ichthyosis; lamellar; 3; formerly', 'ichthyosis; nonlamellar and nonerythrodermic; congenital; autosomal recessive']" +"""GARD:0009736""",congenital non-bullous ichthyosiform erythroderma,"['cie', 'erythrodermic ichthyosis', 'non-bullous congenital ichthyosiform erythroderma']" +"""GARD:0009737""",epidermolysis bullosa simplex with mottled pigmentation,"['ebs with mottled pigmentation', 'ebs-mp']" +"""GARD:0009740""",familial atrial fibrillation,[] +"""GARD:0009741""",neurological conditions associated with aminoacylase 1 deficiency,"['acy1d', 'n-acyl-l-amino acid amidohydrolase deficiency']" +"""GARD:0009742""",ankylostomiasis,"['ancylostomiasis', 'hookworm infection']" +"""GARD:0009744""",atrophoderma vermiculata,['folliculitis ulerythematosa reticulate'] +"""GARD:0009748""",systemic sclerosis,['systemic scleroderma'] +"""GARD:0009749""",limited systemic sclerosis,['systemic sclerosis sine scleroderma'] +"""GARD:0009751""",diffuse cutaneous systemic sclerosis,"['diffuse cutaneous systemic scleroderma', 'progressive cutaneous systemic scleroderma', 'progressive cutaneous systemic sclerosis']" +"""GARD:0009755""",infantile nephropathic cystinosis,[] +"""GARD:0009756""",ocular cystinosis,"['adult-onset cystinosis', 'non-nephropathic cystinosis']" +"""GARD:0009758""",familial hypocalciuric hypercalcemia type 2,['fhh type 2'] +"""GARD:0009759""",leukonychia totalis,[] +"""GARD:0009761""",isolated congenital onychodysplasia,"['coif', 'coif syndrome', 'congenital onychodysplasia of the index fingers', 'iso-kikuchi syndrome']" +"""GARD:0009762""",potocki-shaffer syndrome,"['11p11.2 deletion', 'proximal 11p deletion syndrome']" +"""GARD:0009766""",morvan syndrome,"['limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome', 'morvan fibrillary chorea']" +"""GARD:0009767""",necrotizing enterocolitis,[] +"""GARD:0009769""",oligoastrocytoma,"['moa', 'mixed oligoastrocytoma']" +"""GARD:0009775""",dowling-degos disease,['reticular pigment anomaly of flexures'] +"""GARD:0009778""",canomad syndrome,"['canda syndrome', 'chronic ataxic neuropathy-ophthalmoplegia-igm paraprotein-cold agglutinins-disialosyl antibodies syndrome', 'chronic sensory ataxic neuropathy with anti-disialosyl igm antibodies']" +"""GARD:0009781""",proximal xq28 duplication syndrome,"['mecp2 duplication syndrome', 'x-linked intellectual disability syndrome; lubs type']" +"""GARD:0009787""",parkes weber syndrome,[] +"""GARD:0009789""",rare lymphatic malformation,"['lm', 'lymphangioma']" +"""GARD:0009791""","epiphyseal dysplasia, multiple, 2",[] +"""GARD:0009792""","epiphyseal dysplasia, multiple, 3",[] +"""GARD:0009793""",multiple epiphyseal dysplasia type 4,"['autosomal recessive multiple epiphyseal dysplasia', 'edm4', 'med4', 'polyepiphyseal dysplasia type 4', 'rmed']" +"""GARD:0009794""",multiple epiphyseal dysplasia type 5,"['bhmed', 'bilateral hereditary micro-epiphyseal dysplasia', 'edm5', 'med5', 'polyepiphyseal dysplasia type 5']" +"""GARD:0009795""",naxos disease,"['kwwh type i', 'keratoderma with woolly hair type i', 'keratosis palmoplantaris with arrythmogenic cardiomyopathy', 'palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy', 'palmoplantar keratoderma with arrythmogenic cardiomyopathy']" +"""GARD:0009796""",autoimmune lymphoproliferative syndrome with recurrent viral infections,"['alps with recurrent viral infections', 'ceds', 'caspase 8 deficiency syndrome']" +"""GARD:0009797""",dianzani autoimmune lymphoproliferative disease,['dald'] +"""GARD:0009798""",auriculocondylar syndrome,['question mark ear syndrome'] +"""GARD:0009799""",familial cutaneous collagenoma,[] +"""GARD:0009802""",progressive familial intrahepatic cholestasis type 1,"['byler disease', 'fic1 deficiency', 'pfic1']" +"""GARD:0009803""",progressive familial intrahepatic cholestasis type 4,"['pfic4', 'tjp2 deficit']" +"""GARD:0009804""",intrahepatic cholestasis of pregnancy,"['gravidic intrahepatic cholestasis', 'pregnancy-related cholestasis', 'recurrent intrahepatic cholestasis of pregnancy']" +"""GARD:0009806""",vibratory urticaria,[] +"""GARD:0009808""",pilocytic astrocytoma,[] +"""GARD:0009809""",enteropathy-associated t-cell lymphoma,"['eatl', 'ettl', 'enteropathy-type t-cell lymphoma', 'intestinal t-cell lymphoma']" +"""GARD:0009810""","dyssegmental dysplasia, rolland-desbuquois type",[] +"""GARD:0009811""",intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,[] +"""GARD:0009812""",t-cell large granular lymphocyte leukemia,"['proliferation of large granular lymphocytes', 't-lgl', 't-cell lgl leukemia']" +"""GARD:0009813""",congenital bile acid synthesis defect type 1,"['3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency', 'basd1']" +"""GARD:0009814""",tukel syndrome,[] +"""GARD:0009817""",autosomal dominant dopa-responsive dystonia,"['autosomal dominant segawa syndrome', 'dyt5a', 'gtpch1-deficient drd', 'gtpch1-deficient dopa-responsive dystonia', 'hpd with marked diurnal fluctuation', 'hereditary progressive dystonia with marked diurnal fluctuation']" +"""GARD:0009818""",developmental malformations-deafness-dystonia syndrome,['developmental malformations-hearing loss-dystonia syndrome'] +"""GARD:0009820""",catastrophic antiphospholipid syndrome,"['caps', 'catastrophic aps']" +"""GARD:0009821""",pattern dystrophy,['patterned dystrophy of the retinal pigment epithelium'] +"""GARD:0009826""",pmm2-cdg,"['cdg syndrome type ia', 'cdg-ia', 'cdg1a', 'carbohydrate deficient glycoprotein syndrome type ia', 'congenital disorder of glycosylation type 1a', 'congenital disorder of glycosylation type ia', 'phosphomannomutase 2 deficiency']" +"""GARD:0009827""",alg3-cdg,"['cdg syndrome type id', 'cdg-id', 'cdg1d', 'carbohydrate deficient glycoprotein syndrome type id', 'congenital disorder of glycosylation type 1d', 'congenital disorder of glycosylation type id', 'mannosyltransferase 6 deficiency']" +"""GARD:0009828""",mgat2-cdg,"['cdg syndrome type iia', 'cdg-iia', 'cdg2a', 'carbohydrate deficient glycoprotein syndrome type iia', 'congenital disorder of glycosylation type 2a', 'congenital disorder of glycosylation type iia', 'n-acetylglucosaminyltransferase 2 deficiency']" +"""GARD:0009829""",alg6-cdg,"['cdg syndrome type ic', 'cdg-ic', 'cdg1c', 'carbohydrate deficient glycoprotein syndrome type ic', 'congenital disorder of glycosylation type 1c', 'congenital disorder of glycosylation type ic', 'glucosyltransferase 1 deficiency']" +"""GARD:0009830""",mpi-cdg,"['cdg syndrome type ib', 'cdg-ib', 'cdg1b', 'carbohydrate deficient glycoprotein syndrome type ib', 'congenital disorder of glycosylation type 1b', 'congenital disorder of glycosylation type ib', 'phosphomannose isomerase deficiency']" +"""GARD:0009831""",dpm1-cdg,"['cdg syndrome type ie', 'cdg-ie', 'cdg1e', 'carbohydrate deficient glycoprotein syndrome type ie', 'congenital disorder of glycosylation type 1e', 'congenital disorder of glycosylation type ie', 'dol-p-mannosyltransferase deficiency']" +"""GARD:0009832""",mpdu1-cdg,"['cdg syndrome type if', 'cdg-if', 'cdg1f', 'carbohydrate deficient glycoprotein syndrome type if', 'congenital disorder of glycosylation type 1f', 'congenital disorder of glycosylation type if']" +"""GARD:0009833""",alg12-cdg,"['cdg syndrome type ig', 'cdg-ig', 'cdg1g', 'carbohydrate deficient glycoprotein syndrome type ig', 'congenital disorder of glycosylation type 1g', 'congenital disorder of glycosylation type ig', 'mannosyltransferase 8 deficiency']" +"""GARD:0009834""",alg8-cdg,"['cdg syndrome type ih', 'cdg-ih', 'cdg1h', 'carbohydrate deficient glycoprotein syndrome type ih', 'congenital disorder of glycosylation type 1h', 'congenital disorder of glycosylation type ih', 'glucosyltransferase 2 deficiency']" +"""GARD:0009835""",emanuel syndrome,"['der(22)t(11;22) syndrome', 'supernumerary der(22) syndrome']" +"""GARD:0009836""",alg2-cdg,"['cdg syndrome type ii', 'cdg-ii', 'cdg1i', 'carbohydrate deficient glycoprotein syndrome type ii', 'congenital disorder of glycosylation type 1i', 'congenital disorder of glycosylation type ii', 'mannosyltransferase 2 deficiency']" +"""GARD:0009837""",dpagt1-cdg,"['cdg syndrome type ij', 'cdg-ij', 'cdg1j', 'carbohydrate deficient glycoprotein syndrome type ij', 'congenital disorder of glycosylation type 1j', 'congenital disorder of glycosylation type ij', 'dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency']" +"""GARD:0009838""",alg1-cdg,"['cdg syndrome type ik', 'cdg-ik', 'cdg1k', 'carbohydrate deficient glycoprotein syndrome type ik', 'congenital disorder of glycosylation type 1k', 'congenital disorder of glycosylation type ik', 'mannosyltransferase 1 deficiency']" +"""GARD:0009839""",alg9-cdg,"['cdg syndrome type il', 'cdg-il', 'cdg1l', 'carbohydrate deficient glycoprotein syndrome type il', 'congenital disorder of glycosylation type 1l', 'mannosyltransferase 7-9 deficiency']" +"""GARD:0009841""",b4galt1-cdg,"['beta-1;4-galactosyltransferase deficiency', 'cdg syndrome type iid', 'cdg-iid', 'cdg2d', 'carbohydrate deficient glycoprotein syndrome type iid', 'congenital disorder of glycosylation type 2d', 'congenital disorder of glycosylation type iid']" +"""GARD:0009842""",cog7-cdg,"['cdg syndrome type iie', 'cdg-iie', 'cdg2e', 'carbohydrate deficient glycoprotein syndrome type iie', 'congenital disorder of glycosylation type 2e', 'congenital disorder of glycosylation type iie']" +"""GARD:0009843""",primary familial polycythemia,"['congenital erythrocytosis due to erythropoietin receptor mutation', 'congenital polycythemia due to erythropoietin receptor mutation', 'familial erythrocytosis', 'pfcp', 'primary congenital erythrocytosis', 'primary familial and congenital polycythemia']" +"""GARD:0009844""",microcephalic osteodysplastic primordial dwarfism type ii,"['mopd type ii', 'majewski osteodysplastic primordial dwarfism type ii']" +"""GARD:0009846""","heart-hand syndrome, slovenian type","['atriodigital dysplasia; slovenian type', 'cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome']" +"""GARD:0009847""",heart-hand syndrome type 2,"['atriodigital dysplasia type 2', 'tabatznik syndrome']" +"""GARD:0009848""",congenital brain dysgenesis due to glutamine synthetase deficiency,"['inherited gs deficiency', 'inherited glutamine synthetase deficiency']" +"""GARD:0009849""",goldberg-shprintzen megacolon syndrome,"['goshs', 'megacolon-microcephaly syndrome']" +"""GARD:0009850""","omphalocele syndrome, shprintzen-goldberg type",[] +"""GARD:0009863""","synostoses, tarsal, carpal, and digital",['calcaneonavicular coalition'] +"""GARD:0009866""",spondyloepimetaphyseal dysplasia with multiple dislocations,"['semd-md', 'semdjl2', 'spondyloepimetaphyseal dysplasia with joint laxicity; hall type', 'spondyloepimetaphyseal dysplasia with joint laxity type 2', 'spondyloepimetaphyseal dysplasia with joint laxity; leptodactylic type', 'spondyloepimetaphyseal dysplasia with multiple dislocations; hall type']" +"""GARD:0009867""",spinocerebellar ataxia type 14,['sca14'] +"""GARD:0009870""",hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency,"['hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency', 'hyperinsulinism due to schad deficiency', 'hyperinsulinism due to glutamodehydrogenase deficiency', 'schad deficiency']" +"""GARD:0009873""",lateral meningocele syndrome,['lehman syndrome'] +"""GARD:0009874""",amyotrophic lateral sclerosis 6 with or without frontotemporal dementia,[] +"""GARD:0009876""","aortic aneurysm, familial thoracic 4","['aortic aneurysm/aortic dissection and patent ductus arteriosus', 'faa4']" +"""GARD:0009879""",fibular aplasia-complex brachydactyly syndrome,['du pan syndrome'] +"""GARD:0009882""",hyperandrogenism due to cortisone reductase deficiency,['11-beta-hydroxysteroid dehydrogenase deficiency type 1'] +"""GARD:0009884""",juvenile myelomonocytic leukemia,"['jmml', 'juvenile chronic myelomonocytic leukemia']" +"""GARD:0009885""",noonan syndrome 3,[] +"""GARD:0009886""",ichthyosis-prematurity syndrome,"['congenital ichthyosis type 4', 'ips']" +"""GARD:0009887""",benign concentric annular macular dystrophy,[] +"""GARD:0009888""",pyruvate dehydrogenase phosphatase deficiency,['pdh phosphatase deficiency'] +"""GARD:0009890""","autosomal dominant optic atrophy, classic form","['autosomal dominant optic atrophy; kjer type', 'kjer optic atrophy', 'optic atrophy type 1']" +"""GARD:0009892""",cataract 18,['cataract; autosomal recessive congenital 2'] +"""GARD:0009895""","myasthenic syndrome, congenital, 2a, slow-channel",[] +"""GARD:0009898""",posterior column ataxia-retinitis pigmentosa syndrome,"['autosomal recessive posterior column ataxia and retinitis pigmentosa', 'pcarp']" +"""GARD:0009900""",congenital pulmonary lymphangiectasia,['pulmonary lymphangiomatosis'] +"""GARD:0009901""","telangiectasia, hereditary hemorrhagic, type 2",[] +"""GARD:0009902""","telangiectasia, hereditary hemorrhagic, type 3",[] +"""GARD:0009903""",polysyndactyly,"['ppd4', 'preaxial polydactyly type 4']" +"""GARD:0009904""",osteosclerosis-ichthyosis-premature ovarian failure syndrome,['sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome'] +"""GARD:0009905""",lynch syndrome,[] +"""GARD:0009907""",amyopathic dermatomyositis,"['adm', 'dermatomyositis sine myositis']" +"""GARD:0009909""","arthrogryposis, distal, type 2b1","['freeman-sheldon syndrome variant', 'arthrogryposis multiplex congenita; distal; type 2b', 'arthrogryposis multiplex congenita; distal; type ii; with craniofacial abnormalities']" +"""GARD:0009910""",lethal acantholytic erosive disorder,[] +"""GARD:0009911""","fibromatosis, gingival, 3",[] +"""GARD:0009912""",lennox-gastaut syndrome,[] +"""GARD:0009914""",glomerulopathy with fibronectin deposits 2,['glomerular nephritis; familial; with fibronectin deposits'] +"""GARD:0009916""",multiple synostoses syndrome 2,[] +"""GARD:0009918""","deafness, autosomal recessive 51",[] +"""GARD:0009919""","deafness, autosomal recessive 55",[] +"""GARD:0009920""",mitochondrial neurogastrointestinal encephalomyopathy,['mngie'] +"""GARD:0009921""",nasu-hakola disease,"['nhd', 'plo-sl', 'plosl', 'polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy']" +"""GARD:0009922""","hemophagocytic lymphohistiocytosis, familial, 2","['hlh2', 'hplh2']" +"""GARD:0009928""","hemophagocytic lymphohistiocytosis, familial, 3","['hlh3', 'hplh3']" +"""GARD:0009929""","hemophagocytic lymphohistiocytosis, familial, 4","['hplh4', 'hlh4']" +"""GARD:0009931""",hyperinsulinism-hyperammonemia syndrome,['hi/ha syndrome'] +"""GARD:0009932""",exercise-induced hyperinsulinism,"['eihi', 'exercise-induced hyperinsulinemic hypoglycemia', 'hyperinsulinism due to slc16a1 deficiency', 'hyperinsulinism due to monocarboxylate transporter 1 deficiency']" +"""GARD:0009933""","deafness, autosomal dominant 3a",[] +"""GARD:0009934""","deafness, autosomal dominant 53",[] +"""GARD:0009935""","deafness, autosomal recessive 47",[] +"""GARD:0009936""",hypohidrotic ectodermal dysplasia with immunodeficiency,"['anhidrotic ectodermal dysplasia with immunodeficiency', 'eda-id', 'hed-id']" +"""GARD:0009937""",myopia 6,[] +"""GARD:0009940""",cednik syndrome,['cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome'] +"""GARD:0009941""",facioscapulohumeral dystrophy,"['fsh dystrophy', 'fshd', 'facioscapulohumeral muscular dystrophy', 'facioscapulohumeral myopathy', 'landouzy-dejerine dystrophy', 'landouzy-dejerine myopathy']" +"""GARD:0009943""","amelogenesis imperfecta, type ie","['amelogenesis imperfecta; hypoplastic/hypomaturation; x-linked 1', 'amelogenesis imperfecta; hypomaturation type; with snow-capped teeth', 'enamel hypoplasia; x-linked', 'amelogenesis imperfecta; x-linked 1']" +"""GARD:0009944""","amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2",[] +"""GARD:0009947""",x-linked intellectual disability-cerebellar hypoplasia syndrome,"['ophn1 syndrome', 'oligophrenin-1 syndrome']" +"""GARD:0009950""",spinocerebellar ataxia type 23,['sca23'] +"""GARD:0009951""",spinocerebellar ataxia type 28,['sca28'] +"""GARD:0009952""",congenital primary aphakia,[] +"""GARD:0009953""",oligodendroglioma,[] +"""GARD:0009959""",west-nile encephalitis,['west-nile fever'] +"""GARD:0009963""",spinocerebellar ataxia type 27,['sca27'] +"""GARD:0009964""",glycogen storage disease due to phosphoglycerate mutase deficiency,"['gsd due to phosphoglycerate mutase deficiency', 'gsd type 10', 'glycogenosis due to phosphoglycerate mutase deficiency', 'muscle phosphoglycerate mutase deficiency', 'myopathy due to phosphoglycerate mutase deficiency']" +"""GARD:0009965""",hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,"['congenital disorder of glycosylation due to pigm deficiency', 'pigm-cdg']" +"""GARD:0009966""",duane retraction syndrome 2,[] +"""GARD:0009970""",spinocerebellar ataxia type 4,['sca4'] +"""GARD:0009971""",autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,"['autosomal recessive spinocerebellar ataxia type 3', 'autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome', 'scabd', 'scar3']" +"""GARD:0009975""",spinocerebellar ataxia type 31,['sca31'] +"""GARD:0009976""",spinocerebellar ataxia type 18,['sca18'] +"""GARD:0009977""",camos syndrome,"['cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome', 'scar5']" +"""GARD:0009980""",x-linked spinocerebellar ataxia type 4,"['scax4', 'x-linked ataxia-dementia syndrome']" +"""GARD:0009981""",x-linked spinocerebellar ataxia type 3,"['scax3', 'x-linked ataxia-deafness syndrome', 'x-linked ataxia-hearing loss syndrome']" +"""GARD:0009983""",leber congenital amaurosis 5,[] +"""GARD:0009984""","x-linked intellectual disability, miles-carpenter type",[] +"""GARD:0009987""",severe combined immunodeficiency due to dclre1c deficiency,"['scid due to artemis deficiency', 'scid due to dclre1c deficiency', 'scid; athabascan type', 'scid; athabaskan type', 'severe combined immunodeficiency due to artemis deficiency', 'severe combined immunodeficiency; athabascan type', 'severe combined immunodeficiency; athabaskan type']" +"""GARD:0009989""",mandibuloacral dysplasia with type b lipodystrophy,[] +"""GARD:0009991""",b4galt7-related spondylodysplastic ehlers-danlos syndrome,"['b4galt7-related spondylodysplastic eds', 'eds progeroid type 1', 'eds with short stature and limb anomalies', 'speds-b4galt7']" +"""GARD:0009993""",riboflavin transporter deficiency,['brown-vialetto-van laere syndrome'] +"""GARD:0009994""",clark-baraitser syndrome,[] +"""GARD:0009995""",spinocerebellar ataxia type 26,['sca26'] +"""GARD:0009996""",spinocerebellar ataxia type 25,['sca25'] +"""GARD:0009997""",spinocerebellar ataxia type 20,['sca20'] +"""GARD:0009998""",sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,['sando'] +"""GARD:0009999""",spinocerebellar ataxia type 21,['sca21'] +"""GARD:0010000""",spinocerebellar ataxia with axonal neuropathy type 1,['scan1'] +"""GARD:0010001""",congenital chloride diarrhea,[] +"""GARD:0010005""",familial progressive cardiac conduction defect,"['familial lenègre disease', 'familial lev disease', 'familial lev-lenègre disease', 'familial pccd', 'familial progressive heart block', 'hereditary bundle branch defect']" +"""GARD:0010007""",immunodeficiency 61,"['agammaglobulinemia; x-linked; type 2', 'xla2']" +"""GARD:0010009""",opsoclonus-myoclonus syndrome,"['ataxo-opso-myoclonus syndrome', 'dancing eye syndrome', 'dancing eye-dancing feet syndrome', 'kinsbourne syndrome', 'oma syndrome', 'oms', 'opsoclonus-myoclonus-ataxia syndrome', 'poma syndrome', 'paraneoplastic opsoclonus-myoclonus', 'paraneoplastic opsoclonus-myoclonus-ataxia syndrome']" +"""GARD:0010010""",self-improving dystrophic epidermolysis bullosa,"['self-improving deb', 'transient bullous dermolysis of the newborn']" +"""GARD:0010011""",agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome,[] +"""GARD:0010012""",camptodactyly-tall stature-scoliosis-hearing loss syndrome,"['catshl syndrome', 'camptodactyly-tall stature-scoliosis-deafness syndrome']" +"""GARD:0010014""",pellagra,[] +"""GARD:0010018""",fuchs endothelial corneal dystrophy,"['endoepithelial corneal dystrophy', 'fecd', 'late hereditary endothelial dystrophy']" +"""GARD:0010023""",bruck syndrome 2,['osteogenesis imperfecta with congenital joint contractures'] +"""GARD:0010024""","whistling face syndrome, recessive form",[] +"""GARD:0010025""",anterior segment developmental anomaly,['anterior segment dysgenesis'] +"""GARD:0010027""",campomelic dysplasia,['campomelic dwarfism'] +"""GARD:0010028""",benign recurrent intrahepatic cholestasis type 1,"['bric type 1', 'bric1']" +"""GARD:0010029""",benign recurrent intrahepatic cholestasis type 2,"['bric type 2', 'bric2']" +"""GARD:0010033""","aneurysm, intracranial berry, 2",[] +"""GARD:0010034""",congenital trigeminal anesthesia,[] +"""GARD:0010037""",familial encephalopathy with neuroserpin inclusion bodies,['fenib'] +"""GARD:0010039""",hydroxykynureninuria,"['kynureninase deficiency', 'xanthurenic aciduria']" +"""GARD:0010041""",burn-mckeown syndrome,['choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome'] +"""GARD:0010043""","usher syndrome, type if",[] +"""GARD:0010045""",congenital bile acid synthesis defect type 2,"['basd2', 'cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency']" +"""GARD:0010046""",congenital bile acid synthesis defect type 4,"['2-methylacyl-coa racemase deficiency', 'amacr deficiency', 'alpha-methyl-acyl-coa racemase deficiency', 'basd4', 'liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome']" +"""GARD:0010047""",glutathione synthetase deficiency,['pyroglutamicaciduria'] +"""GARD:0010048""",isolated congenital anonychia,['isolated anonychia'] +"""GARD:0010049""",central areolar choroidal dystrophy,"['areolar atrophy of the macula', 'cacd', 'central areolar choroidal sclerosis']" +"""GARD:0010050""",bietti crystalline dystrophy,"['bcd', 'bietti crystalline corneoretinal dystrophy', 'bietti crystalline retinopathy']" +"""GARD:0010051""",limb-mammary syndrome,['lms'] +"""GARD:0010053""",lipomyelomeningocele,[] +"""GARD:0010054""",eye defects-arachnodactyly-cardiopathy syndrome,"['al gazali-al talabani syndrome', 'al gazali-lytle syndrome']" +"""GARD:0010056""",mandibulofacial dysostosis-microcephaly syndrome,"['mfdm syndrome', 'mandibulofacial dysostosis; guion-almeida type']" +"""GARD:0010057""","spondyloepimetaphyseal dysplasia, geneviève type","['semd; geneviève type', 'semdg']" +"""GARD:0010061""",talo-patello-scaphoid osteolysis,['singh-williams-mcalister syndrome'] +"""GARD:0010066""",overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome,[] +"""GARD:0010070""",subependymoma,[] +"""GARD:0010072""",diaphyseal medullary stenosis-bone malignancy syndrome,"['bone dysplasia-medullary fibrosarcoma syndrome', 'diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome', 'hardcastle syndrome']" +"""GARD:0010075""","dermatitis herpetiformis, familial",['dh'] +"""GARD:0010081""",white forelock with malformations,[] +"""GARD:0010082""",infantile osteopetrosis with neuroaxonal dysplasia,[] +"""GARD:0010083""",hepatic veno-occlusive disease-immunodeficiency syndrome,['vodi syndrome'] +"""GARD:0010084""",hemifacial myohyperplasia,[] +"""GARD:0010088""",majeed syndrome,['chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome'] +"""GARD:0010089""",tarp syndrome,"['pierre robin sequence-congenital heart defect-talipes syndrome', 'pierre robin syndrome-congenital heart defect-talipes syndrome', 'talipes equinovarus-atrial septal defect-robin sequence-persistence of the left superior vena cava syndrome']" +"""GARD:0010090""",pierre robin sequence with pectus excavatum and rib and scapular anomalies,"['skeletal dysplasia related to campomelic dysplasia', 'campomelic dysplasia; mild']" +"""GARD:0010091""",sotos syndrome,['cerebral gigantism'] +"""GARD:0010092""",hemochromatosis type 2,['juvenile hemochromatosis'] +"""GARD:0010093""",hemochromatosis type 3,['tfr2-related hemochromatosis'] +"""GARD:0010094""",hemochromatosis type 4,"['autosomal dominant hereditary hemochromatosis', 'ferroportin disease', 'hemochromatosis due to defect in ferroportin']" +"""GARD:0010095""","migraine, familial hemiplegic, 2",['mhp2'] +"""GARD:0010096""",hereditary leiomyomatosis and renal cell cancer,"['familial leiomyomatosis and renal cell cancer', 'familial leiomyomatosis cutis et uteri', 'familial leiomyomatosis with renal carcinoma', 'familial multiple cutaneous leiomyomas', 'hlrcc', 'hereditary leiomyomatosis', 'hereditary leiomyomatosis with renal carcinoma', 'hereditary multiple cutaneous leiomyomas', 'mcul', 'multiple cutaneous and uterine leiomyomas', 'reed syndrome']" +"""GARD:0010097""",leiomyoma of vulva and esophagus,['leiomyomatosis; esophagogastric and vulvar'] +"""GARD:0010099""",gamma-glutamyl transpeptidase deficiency,"['gamma-glutamyl transferase deficiency', 'glutathionuria']" +"""GARD:0010101""",spondyloepimetaphyseal dysplasia-hypotrichosis syndrome,[] +"""GARD:0010103""",elastosis perforans serpiginosa,[] +"""GARD:0010104""","pseudoxanthoma elasticum, forme fruste",[] +"""GARD:0010106""",osteopetrosis-hypogammaglobulinemia syndrome,"['autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia', 'autosomal recessive osteopetrosis type 7']" +"""GARD:0010108""","myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency","['myasthenia; familial infantile; 1; formerly', 'cms id; formerly', 'myasthenic syndrome; congenital; type id']" +"""GARD:0010109""",cornelia de lange syndrome,['brachmann-de lange syndrome'] +"""GARD:0010111""",nemaline myopathy 3,[] +"""GARD:0010116""",ichthyosis-hypotrichosis syndrome,"['hypotrichosis-congenital ichthyosis syndrome', 'ifah syndrome', 'ihs', 'ichthyosis-follicular atrophoderma-hypotrichosis syndrome', 'ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome']" +"""GARD:0010118""",oguchi disease,"['congenital stationary night blindness; oguchi type', 'oguchi syndrome']" +"""GARD:0010119""","cone dystrophy, x-linked, with tapetal-like sheen",[] +"""GARD:0010120""","macular dystrophy, vitelliform, 1",['macular dystrophy; atypical vitelliform'] +"""GARD:0010121""",morm syndrome,['intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome'] +"""GARD:0010123""",progressive bifocal chorioretinal atrophy,"['crapb', 'pbcra']" +"""GARD:0010126""",gm1 gangliosidosis type 2,"['juvenile gm1 gangliosidosis', 'late-infantile gm1 gangliosidosis']" +"""GARD:0010127""",leydig cell hypoplasia due to lhb deficiency,"['46;xy dsd due to lhb deficiency', '46;xy dsd due to luteinizing hormone subunit beta deficiency', '46;xy disorder of sex development due to lhb deficiency', '46;xy disorder of sex development due to luteinizing hormone subunit beta deficiency', 'leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency']" +"""GARD:0010128""",isolated follicle stimulating hormone deficiency,['isolated fsh deficiency'] +"""GARD:0010129""",isolated thyroid-stimulating hormone deficiency,"['isolated tsh deficiency', 'isolated thyrotropin deficiency']" +"""GARD:0010130""",monosomy 22q13.3,"['22q13.3 deletion', 'phelan-mcdermid syndrome']" +"""GARD:0010131""","hereditary motor and sensory neuropathy, okinawa type","['hmsnp', 'hereditary motor and sensory neuropathy; proximal type']" +"""GARD:0010132""",charcot-marie-tooth disease type 4g,"['cmt4g', 'hmsnr', 'hereditary motor and sensory neuropathy; russe type']" +"""GARD:0010133""","distal hereditary motor neuropathy, jerash type","['autosomal recessive distal spinal muscular atrophy type 2', 'dhmnj']" +"""GARD:0010138""","primary dystonia, dyt4 type","['dyt4', 'hereditary whispering dysphonia']" +"""GARD:0010140""",bohring-opitz syndrome,"['bos syndrome', 'bohring syndrome', 'c-like syndrome', 'oberklaid-danks syndrome', 'opitz trigonocephaly-like syndrome']" +"""GARD:0010142""",osteogenesis imperfecta type 2,"['lethal osteogenesis imperfecta', 'oi type 2']" +"""GARD:0010144""",dentinogenesis imperfecta type 3,['dentinogenesis imperfecta; shields type 3'] +"""GARD:0010145""",17p11.2 microduplication syndrome,"['potocki-lupski syndrome', 'trisomy 17p11.2']" +"""GARD:0010147""",bor syndrome,['branchiootorenal syndrome'] +"""GARD:0010148""",branchiootic syndrome,[] +"""GARD:0010149""",kyphomelic dysplasia,[] +"""GARD:0010151""",aicardi-goutieres syndrome 5,[] +"""GARD:0010152""","osteogenesis imperfecta, type viii",['oi; type viii'] +"""GARD:0010153""",pulmonary venoocclusive disease,[] +"""GARD:0010156""",congenital chylothorax,[] +"""GARD:0010163""",curly hair-acral keratoderma-caries syndrome,"['chac syndrome', 'chacs']" +"""GARD:0010167""",joubert syndrome 2,['cerebellooculorenal syndrome 2'] +"""GARD:0010168""",joubert syndrome with ocular defect,"['js-o', 'joubert syndrome with retinopathy']" +"""GARD:0010169""",joubert syndrome with renal defect,['js-r'] +"""GARD:0010173""",florid cemento-osseous dysplasia,"['florid osseous dysplasia', 'focal cemento-osseous dysplasia']" +"""GARD:0010175""",klatskin tumor,"['hilar cca', 'hilar cholangiocarcinoma']" +"""GARD:0010177""",mirizzi syndrome,['extrinsic biliary compression syndrome'] +"""GARD:0010179""",brooke-spiegler syndrome,['cyld cutaneous syndrome'] +"""GARD:0010181""",epithelioid sarcoma,[] +"""GARD:0010184""",hereditary cryohydrocytosis with normal stomatin,[] +"""GARD:0010188""","angioma serpiginosum, x-linked",[] +"""GARD:0010189""","angioma serpiginosum, autosomal dominant",[] +"""GARD:0010190""",isolated focal cortical dysplasia type ii,"['cortical dysplasia; taylor type', 'fcd type ii', 'isolated focal cortical dysplasia type 2']" +"""GARD:0010193""",subcutaneous panniculitis-like t-cell lymphoma,"['sptcl', 'subcutaneous panniculitic t-cell lymphoma']" +"""GARD:0010199""",early-onset x-linked optic atrophy,"['non-leber type optic atrophy with early-onset', 'opa2', 'optic atrophy type 2']" +"""GARD:0010200""",optic atrophy 6,[] +"""GARD:0010201""",optic atrophy 5,[] +"""GARD:0010202""",2q37 microdeletion syndrome,"['albright hereditary osteodystrophy type 3', 'albright hereditary osteodystrophy-like syndrome', 'brachydactyly-intellectual disability syndrome', 'del(2)(q37)', 'deletion 2q37', 'monosomy 2q37qter']" +"""GARD:0010203""",autosomal dominant optic atrophy and cataract,"['autosomal dominant optic atrophy type 3', 'opa3; autosomal dominant']" +"""GARD:0010204""",bardet-biedl syndrome 5,[] +"""GARD:0010205""",bardet-biedl syndrome 6,[] +"""GARD:0010206""",bardet-biedl syndrome 7,[] +"""GARD:0010207""",bardet-biedl syndrome 8,[] +"""GARD:0010208""",bardet-biedl syndrome 9,[] +"""GARD:0010209""",bardet-biedl syndrome 10,[] +"""GARD:0010210""",bardet-biedl syndrome 11,[] +"""GARD:0010211""",bardet-biedl syndrome 12,[] +"""GARD:0010212""","lipodystrophy, congenital generalized, type 2","['lipoatrophic diabetes; congenital', 'brunzell syndrome; bscl2-related', 'seip syndrome', 'lipodystrophy; berardinelli-seip congenital; type 2', 'berardinelli-seip congenital lipodystrophy; type 2', 'berardinelli syndrome', 'lipodystrophy; total; and acromegaloid gigantism']" +"""GARD:0010213""",blepharophimosis-ptosis-epicanthus inversus syndrome type 2,"['bpes type 2', 'blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure']" +"""GARD:0010214""",neonatal intrahepatic cholestasis due to citrin deficiency,"['niccd', 'neonatal intrahepatic cholestasis caused by citrin deficiency']" +"""GARD:0010215""",citrullinemia type ii,"['adult-onset citrin deficiency', 'adult-onset citrullinemia type 2', 'adult-onset citrullinemia type ii', 'ctln2', 'citrullinemia type 2']" +"""GARD:0010216""",nde1-related microhydranencephaly,['mhac'] +"""GARD:0010220""",spondyloepiphyseal dysplasia with metatarsal shortening,"['czech dysplasia; metatarsal type', 'sed with metatarsal shortening']" +"""GARD:0010221""",hnf1b-related autosomal dominant tubulointerstitial kidney disease,"['adtkd-hnf1b', 'hnf1b-mody', 'hnf1b-related nephropathy', 'mody5', 'maturity-onset diabetes of the young type 5', 'rcad syndrome', 'renal cysts and diabetes syndrome', 'renal dysfunction-early-onset diabetes syndrome']" +"""GARD:0010223""",isobutyryl-coa dehydrogenase deficiency,['isobutyric aciduria'] +"""GARD:0010224""",zygomycosis,['mucormycosis'] +"""GARD:0010225""",multiple endocrine neoplasia type 2b,"['men2b', 'multiple endocrine neoplasia type 3', 'wagenmann-froboese syndrome']" +"""GARD:0010226""",cog1-cdg,"['cdg syndrome type iig', 'cdg-iig', 'cdg2g', 'carbohydrate deficient glycoprotein syndrome type iig', 'congenital disorder of glycosylation type 2g', 'congenital disorder of glycosylation type iig']" +"""GARD:0010229""",autosomal dominant limb-girdle muscular dystrophy type 1a,"['lgmd1a', 'limb-girdle muscular dystrophy due to myotilin deficiency']" +"""GARD:0010230""","emery-dreifuss muscular dystrophy 2, autosomal dominant","['emery-dreifuss muscular dystrophy; autosomal dominant', 'muscular dystrophy; limb-girdle; type 1b; formerly', 'cardiomyopathy; dilated; with quadriceps myopathy', 'scapuloilioperoneal atrophy with cardiopathy', 'hauptmann-thannhauser muscular dystrophy', 'emd2', 'muscular dystrophy with early contractures and cardiomyopathy; autosomal dominant', 'muscular dystrophy; proximal; type 1b; formerly']" +"""GARD:0010237""",biotin-thiamine-responsive basal ganglia disease,"['bbgd', 'btbgd', 'biotin-responsive basal ganglia disease']" +"""GARD:0010238""",myostatin-related muscle hypertrophy,[] +"""GARD:0010239""",h syndrome,[] +"""GARD:0010241""",diamond-blackfan anemia 3,[] +"""GARD:0010244""",familial lipase maturation factor 1 deficiency,['familial lmf1 deficiency'] +"""GARD:0010247""",down syndrome,['trisomy 21'] +"""GARD:0010248""",rare disease with autism,[] +"""GARD:0010252""",primary sjögren syndrome,['primary sjögren-gougerot syndrome'] +"""GARD:0010263""",hydatidiform mole,['molar pregnancy'] +"""GARD:0010266""",hereditary cerebral hemorrhage with amyloidosis,['hchwa'] +"""GARD:0010267""",hyper-beta-alaninemia,['hyperalaninemia'] +"""GARD:0010277""","adducted thumbs-arthrogryposis syndrome, christian type",[] +"""GARD:0010280""",isolated klippel-feil syndrome,"['congenital cervical vertebral fusion', 'congenital fused cervical segments', 'klippel-feil malformation', 'klippel-feil sequence']" +"""GARD:0010281""","axenfeld-rieger syndrome, type 1","['rgs', 'rieger syndrome; type 1', 'rieg']" +"""GARD:0010283""",desmosterolosis,[] +"""GARD:0010287""",rolandic epilepsy,"['becrs', 'bects', 'bre', 'benign epilepsy of childhood with centrotemporal spikes', 'benign familial epilepsy of childhood with rolandic spikes', 'benign rolandic epilepsy', 'centrotemporal epilepsy']" +"""GARD:0010288""",neutral lipid storage myopathy,"['nlsdm', 'neutral lipid storage disease with myopathy without ichthyosis']" +"""GARD:0010290""",wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,['suarez-stickler syndrome'] +"""GARD:0010291""",linear nevus sebaceus syndrome,"['nevus sebaceus of jadassohn', 'nevus sebaceus syndrome', 'organoid nevus syndrome', 'schimmelpenning syndrome', 'solomon syndrome']" +"""GARD:0010294""",autosomal recessive ataxia due to ubiquinone deficiency,"['arca2', 'autosomal recessive ataxia due to coenzyme q10 deficiency', 'autosomal recessive cerebellar ataxia type 2', 'autosomal recessive spinocerebellar ataxia type 9', 'scar9']" +"""GARD:0010295""",syndactyly-telecanthus-anogenital and renal malformations syndrome,['star syndrome'] +"""GARD:0010296""",15q13.3 microdeletion syndrome,"['del(15)(q13.3)', 'monosomy 15q13.3']" +"""GARD:0010297""",ghosal hematodiaphyseal dysplasia,"['diaphyseal dysplasia-anemia syndrome', 'ghosal syndrome']" +"""GARD:0010299""",22q11.2 deletion syndrome,"['22q11ds', 'catch 22', 'cayler cardiofacial syndrome', 'conotruncal anomaly face syndrome', 'digeorge sequence', 'microdeletion 22q11.2', 'monosomy 22q11', 'sedlackova syndrome', 'shprintzen syndrome', 'takao syndrome']" +"""GARD:0010300""",microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,['balikova-vermeesch syndrome'] +"""GARD:0010301""",autosomal recessive bestrophinopathy,['retinopathy; burgess-black type'] +"""GARD:0010302""",serkal syndrome,['sex reversion-kidneys; adrenal and lung dysgenesis syndrome'] +"""GARD:0010303""",autism-facial port-wine stain syndrome,[] +"""GARD:0010304""",8p23.1 duplication syndrome,"['dup(8)(p23.1p23.1)', 'trisomy 8p23.1']" +"""GARD:0010306""",nephrogenic syndrome of inappropriate antidiuresis,['nsiad'] +"""GARD:0010307""",congenital disorder of glycosylation,"['cdg', 'carbohydrate deficient glycoprotein syndrome']" +"""GARD:0010311""",immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency,['irak4 deficiency'] +"""GARD:0010312""","neurogenic scapuloperoneal syndrome, kaeser type","['kaeser syndrome', 'stark-kaeser syndrome']" +"""GARD:0010313""",myh7-related late-onset scapuloperoneal muscular dystrophy,"['myh7-related late-onset spmd', 'myh7-related late-onset scapuloperoneal syndrome']" +"""GARD:0010314""",scapuloperoneal spinal muscular atrophy,"['neurogenic scapuloperoneal amyotrophy; new england type', 'spsma', 'scapuloperoneal neuronopathy']" +"""GARD:0010316""",congenital multicore myopathy with external ophthalmoplegia,[] +"""GARD:0010317""",megaconial congenital muscular dystrophy,"['congenital megaconial myopathy', 'congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect', 'congenital muscular dystrophy with mitochondrial structural abnormalities']" +"""GARD:0010319""",autosomal dominant prognathism,[] +"""GARD:0010320""","corneal dystrophy, lattice type iiia",['lattice corneal dystrophy; type iiia'] +"""GARD:0010321""",3-methylglutaconic aciduria type 1,"['3-methylglutaconyl-coa hydratase deficiency', '3mg-coa hydratase deficiency', 'mga1']" +"""GARD:0010322""",2-methylbutyryl-coa dehydrogenase deficiency,"['2-methylbutyric aciduria', 'developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency', 'sbcad deficiency', 'short/branched-chain acyl-coa dehydrogenase deficiency']" +"""GARD:0010323""",l-arginine:glycine amidinotransferase deficiency,['agat deficiency'] +"""GARD:0010324""",mild phenylketonuria,"['mild pku', 'variant pku', 'variant phenylketonuria', 'mpku']" +"""GARD:0010327""",progressive encephalopathy with leukodystrophy due to decr deficiency,"['2;4-dienoyl-coa reductase deficiency', 'decr deficiency with hyperlysinemia']" +"""GARD:0010332""",tyrosinemia type 3,"['tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency', 'tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency', 'tyrosinemia due to hpd deficiency', 'tyrosinemia type iii']" +"""GARD:0010333""",sickle cell-beta-thalassemia disease syndrome,['hbs-beta-thalassemia syndrome'] +"""GARD:0010335""",mucopolysaccharidosis type 1,"['alpha-l-iduronidase deficiency', 'mps1', 'mpsi', 'mucopolysaccharidosis type i']" +"""GARD:0010339""",severe combined immunodeficiency due to complete rag1/2 deficiency,['scid due to complete rag1/2 deficiency'] +"""GARD:0010341""",megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,['mpph syndrome'] +"""GARD:0010342""",3-methylglutaconic aciduria type 4,['mga4'] +"""GARD:0010346""",gamma-heavy chain disease,"['franklin disease', 'gamma-hcd']" +"""GARD:0010351""",spinocerebellar ataxia type 6,['sca6'] +"""GARD:0010352""",familial platelet disorder with associated myeloid malignancy,"['fpd/aml', 'fpdmm', 'fps/aml', 'familial platelet disorder with predisposition to acute myelogenous leukemia', 'familial platelet disorder with predisposition to myeloid malignancy', 'familial platelet disorder with propensity to acute myeloid leukemia', 'familial thrombocytopenia with propensity to acute myelogenous leukemia']" +"""GARD:0010353""",porphyria,[] +"""GARD:0010354""",omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,['gershoni-baruch syndrome'] +"""GARD:0010355""",familial congenital palsy of trochlear nerve,[] +"""GARD:0010358""","intellectual disability, birk-barel type",['intellectual disability-hypotonia-facial dysmorphism syndrome'] +"""GARD:0010359""","paralysis agitans, juvenile, of hunt",['parkinson disease; juvenile; of hunt'] +"""GARD:0010360""",3q29 microduplication syndrome,['trisomy 3q29'] +"""GARD:0010361""",brugada syndrome 3,[] +"""GARD:0010362""",brugada syndrome 4,[] +"""GARD:0010363""",idiopathic trachyonychia,[] +"""GARD:0010364""",jervell and lange-nielsen syndrome 2,[] +"""GARD:0010365""",dopa-responsive dystonia due to sepiapterin reductase deficiency,"['autosomal recessive sepiapterin reductase-deficient drd', 'drd due to srd', 'spr deficiency', 'sepiapterin reductase deficiency']" +"""GARD:0010366""",toriello-lacassie-droste syndrome,"['aplasia cutis congenita-epibulbar dermoids syndrome', 'oculoectodermal syndrome']" +"""GARD:0010367""",lelis syndrome,['ectodermal dysplasia-acanthosis nigricans syndrome'] +"""GARD:0010372""",trehalase deficiency,['isolated trehalose intolerance'] +"""GARD:0010373""","trichoepithelioma, multiple familial, 2",[] +"""GARD:0010376""",retinitis pigmentosa 12,"['retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium', 'rp with or without preserved paraarteriole retinal pigment epithelium', 'rp with or without pprpe']" +"""GARD:0010377""",retinitis pigmentosa 6,[] +"""GARD:0010378""",retinitis pigmentosa 29,[] +"""GARD:0010379""",retinitis pigmentosa 41,['retinal degeneration; autosomal recessive; prominin-related'] +"""GARD:0010380""",retinitis pigmentosa 2,[] +"""GARD:0010381""",retinitis pigmentosa 3,"['cone-rod degeneration; x-linked', 'choroidoretinal degeneration with retinal reflex in heterozygous women', 'retinitis pigmentosa 15']" +"""GARD:0010382""",retinitis pigmentosa 9,[] +"""GARD:0010383""",retinitis pigmentosa 11,[] +"""GARD:0010384""",retinitis pigmentosa 25,[] +"""GARD:0010385""",retinitis pigmentosa 14,[] +"""GARD:0010386""",retinitis pigmentosa 7,[] +"""GARD:0010387""",retinitis pigmentosa 17,[] +"""GARD:0010388""",retinitis pigmentosa 13,[] +"""GARD:0010389""",retinitis pigmentosa 24,[] +"""GARD:0010390""",retinitis pigmentosa 34,[] +"""GARD:0010391""",retinitis pigmentosa 23,[] +"""GARD:0010392""",retinitis pigmentosa 18,[] +"""GARD:0010393""",retinitis pigmentosa 22,[] +"""GARD:0010394""",retinitis pigmentosa 28,[] +"""GARD:0010395""",retinitis pigmentosa 32,[] +"""GARD:0010396""",retinitis pigmentosa 31,[] +"""GARD:0010397""",retinitis pigmentosa 26,[] +"""GARD:0010398""",retinitis pigmentosa 19,[] +"""GARD:0010400""",retinitis pigmentosa 33,[] +"""GARD:0010401""",retinitis pigmentosa 30,[] +"""GARD:0010402""",retinitis pigmentosa 35,[] +"""GARD:0010403""",retinitis pigmentosa 36,[] +"""GARD:0010404""",retinitis pigmentosa 20,[] +"""GARD:0010405""",retinitis pigmentosa 4,['retinitis pigmentosa; rhodopsin-related'] +"""GARD:0010407""",rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome,"['rohhad', 'rohhadnet', 'rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome']" +"""GARD:0010411""",small cell carcinoma of the ovary,"['scco', 'small cell ovarian carcinoma']" +"""GARD:0010413""",autosomal dominant polycystic kidney disease,['adpkd'] +"""GARD:0010414""",goblet cell carcinoma,"['gcc', 'goblet cell adenocarcinoid', 'goblet cell carcinoid', 'goblet cell tumor']" +"""GARD:0010416""",homozygous familial hypercholesterolemia,['hofh'] +"""GARD:0010417""",symptomatic form of hemochromatosis type 1,"['symptomatic form of hfe-related hereditary hemochromatosis', 'symptomatic form of classic hemochromatosis']" +"""GARD:0010418""",hemophilia,[] +"""GARD:0010419""",myotonic dystrophy,[] +"""GARD:0010423""",coenzyme q10 deficiency,['coq10 deficiency'] +"""GARD:0010424""",cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,"['carasil', 'maeda syndrome']" +"""GARD:0010427""",x-linked hypohidrotic ectodermal dysplasia,"['christ-siemens-touraine syndrome', 'x-linked anhidrotic ectodermal dysplasia', 'xhed']" +"""GARD:0010428""",pure autonomic failure,"['bradbury-eggleston syndrome', 'idiopathic orthostatic hypotension', 'paf', 'pure dysautonomia', 'pure idiopatic dysautonomia']" +"""GARD:0010429""",autosomal dominant brachyolmia,['brachyolmia type 3'] +"""GARD:0010430""",dravet syndrome,"['smei', 'severe myoclonic epilepsy of infancy', 'severe myoclonus epilepsy of infancy']" +"""GARD:0010432""","cardiac arrhythmia, ankyrin-b-related",['ankyrin-b syndrome'] +"""GARD:0010433""",long qt syndrome 5,[] +"""GARD:0010434""",long qt syndrome 6,[] +"""GARD:0010435""",long qt syndrome 9,[] +"""GARD:0010436""",long qt syndrome 10,[] +"""GARD:0010437""",long qt syndrome 11,[] +"""GARD:0010443""",pediatric multiple sclerosis,[] +"""GARD:0010445""",transaldolase deficiency,['taldo deficiency'] +"""GARD:0010453""",perry syndrome,['parkinsonism with alveolar hypoventilation and mental depression'] +"""GARD:0010457""",isolated permanent neonatal diabetes mellitus,"['isolated pndm', 'monogenic diabetes of infancy']" +"""GARD:0010460""",gcgr-related hyperglucagonemia,['mahvash disease'] +"""GARD:0010467""",multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome,"['cutaneovisceral angiomatosis-thrombocytopenia syndrome', 'mlt', 'multifocal lymphangioendotheliomatosis with thrombocytopenia']" +"""GARD:0010469""",spinocerebellar ataxia type 17,"['hdl4', 'huntington disease-like 4', 'sca17']" +"""GARD:0010471""",telethonin-related limb-girdle muscular dystrophy r7,"['autosomal recessive limb-girdle muscular dystrophy type 2g', 'lgmd due to telethonin deficiency', 'lgmd type 2g', 'lgmd2g', 'limb-girdle muscular dystrophy due to telethonin deficiency', 'limb-girdle muscular dystrophy type 2g', 'telethonin-related lgmd r7']" +"""GARD:0010472""",l-2-hydroxyglutaric aciduria,"['l-2-hga', 'l-2-hydroxyglutaric acidemia']" +"""GARD:0010474""",spinocerebellar ataxia type 10,['sca10'] +"""GARD:0010475""",spinocerebellar ataxia type 11,['sca11'] +"""GARD:0010476""",spinocerebellar ataxia type 12,['sca12'] +"""GARD:0010477""",spinocerebellar ataxia type 15/16,['sca15/16'] +"""GARD:0010480""",spinocerebellar ataxia type 29,"['congenital nonprogressive spinocerebellar ataxia', 'sca29']" +"""GARD:0010484""",infantile dystonia-parkinsonism,"['ipd', 'pkdys']" +"""GARD:0010486""",craniopharyngioma,[] +"""GARD:0010487""",leber congenital amaurosis 10,[] +"""GARD:0010488""",leber congenital amaurosis 11,[] +"""GARD:0010489""",leber congenital amaurosis 12,[] +"""GARD:0010490""",leber congenital amaurosis 6,[] +"""GARD:0010491""",langerhans cell sarcoma,[] +"""GARD:0010493""",aggressive nk-cell leukemia,"['ankcl', 'aggressive nk-cell lymphoma', 'nk-cell lgl leukemia', 'nk-cell large granular lymphocyte leukemia']" +"""GARD:0010494""",meconium aspiration syndrome,[] +"""GARD:0010496""",amyotrophic lateral sclerosis 11,[] +"""GARD:0010498""",amyotrophic lateral sclerosis 9,[] +"""GARD:0010499""",amyotrophic lateral sclerosis 8,[] +"""GARD:0010500""",amyotrophic lateral sclerosis 7,[] +"""GARD:0010501""",amyotrophic lateral sclerosis 3,[] +"""GARD:0010502""",amyotrophic lateral sclerosis type 4,"['als4', 'distal hereditary motor neuropathy with upper motor neuron signs', 'dhmn with upper motor neuron signs']" +"""GARD:0010504""",craniorachischisis,[] +"""GARD:0010505""",cryptophthalmia,[] +"""GARD:0010506""",iniencephaly,[] +"""GARD:0010508""",bartter syndrome type 4,"['bartter syndrome type iv', 'bartter syndrome with sensorineural deafness', 'bartter syndrome with sensorineural hearing loss']" +"""GARD:0010509""",acquired partial lipodystrophy,"['barraquer-simons syndrome', 'progressive cephalothoracic lipodystrophy']" +"""GARD:0010510""",juvenile huntington disease,"['jhd', 'juvenile huntington chorea']" +"""GARD:0010511""",sorsby fundus dystrophy,"['macular dystrophy; hemorrhagic', 'fundus dystrophy; pseudoinflammatory; of sorsby']" +"""GARD:0010513""","spondyloepimetaphyseal dysplasia, aggrecan type",['semd; aggrecan type'] +"""GARD:0010514""",east syndrome,"['epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome', 'epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome', 'sesame syndrome', 'seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome', 'seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome']" +"""GARD:0010515""",congenital tracheomalacia,['congenital major airway collapse'] +"""GARD:0010516""",sterile multifocal osteomyelitis with periostitis and pustulosis,"['autoinflammatory disease due to interleukin-1 receptor antagonist deficiency', 'dira', 'interleukin-1 receptor antagonist deficiency', 'ompp']" +"""GARD:0010517""","axenfeld-rieger syndrome, type 2",[] +"""GARD:0010518""",orofaciodigital syndrome type 3,"['ofd3', 'oral-facial-digital syndrome type 3', 'sugarman syndrome']" +"""GARD:0010520""",orofaciodigital syndrome type 9,"['ofd9', 'oral-facial-digital syndrome type 9', 'oral-facial-digital syndrome with retinal abnormalities', 'orofaciodigital syndrome with retinal abnormalities']" +"""GARD:0010522""",congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,['congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome'] +"""GARD:0010523""",combined immunodeficiency due to stim1 deficiency,['cid due to stim1 deficiency'] +"""GARD:0010524""",combined immunodeficiency due to orai1 deficiency,['cid due to orai1 deficiency'] +"""GARD:0010525""",15q11.2 microdeletion syndrome,"['15q11.2 bp1-bp2 microdeletion syndrome', 'del(15)(q11.2)', 'monosomy 15q11.2']" +"""GARD:0010526""","ectodermal dysplasia with natal teeth, turnpenny type",[] +"""GARD:0010528""",gingival fibromatosis-facial dysmorphism syndrome,[] +"""GARD:0010529""",myofibrillar myopathy,[] +"""GARD:0010533""",x-linked dystonia-parkinsonism,"['dyt3', 'lubag', 'lubag syndrome', 'xdp']" +"""GARD:0010536""","primary dystonia, dyt17 type",[] +"""GARD:0010537""","primary dystonia, dyt13 type","['dyt13', 'primary dystonia with mixed phenotype', 'primary torsion dystonia with predominant craniocervical or upper limb onset']" +"""GARD:0010538""",autosomal recessive spastic paraplegia type 35,['spg35'] +"""GARD:0010539""",dystonia 16,"['dyt16', 'early-onset dystonia parkinsonism']" +"""GARD:0010541""",paroxysmal exertion-induced dyskinesia,"['dyt18', 'dystonia 18', 'ped']" +"""GARD:0010544""",paragangliomas 2,['glomus tumors; familial; 2'] +"""GARD:0010545""",paragangliomas 3,['glomus tumors; familial; 3'] +"""GARD:0010546""",paragangliomas 4,"['paraganglioma; familial malignant', 'pheochromocytoma; familial extraadrenal', 'paragangliomas; hereditary extraadrenal', 'carotid body tumors and multiple extraadrenal pheochromocytomas', 'pheochromocytoma; extraadrenal; and cervical paraganglioma']" +"""GARD:0010556""",cd4+/cd56+ hematodermic neoplasm,"['bpdcn', 'blastic nk-cell lymphoma', 'blastic plasmacytoid dendritic cell neoplasm', 'lymphoblastoid variant of nk-cell lymphoma', 'monomorphic nk-cell lymphoma']" +"""GARD:0010557""",22q11.2 duplication syndrome,"['22q11.2 microduplication syndrome', 'dup(22)(q11)', 'duplication 22q11.2', 'trisomy 22q11.2']" +"""GARD:0010559""",primary interstitial lung disease specific to childhood,['primary ild specific to childhood'] +"""GARD:0010560""",aa amyloidosis,"['inflammatory amyloidosis', 'reactive amyloidosis', 'secondary amyloidosis']" +"""GARD:0010562""",nodular cutaneous amyloidosis,"['plcna', 'primary localized cutaneous nodular amyloidosis']" +"""GARD:0010570""",bartsocas-papas syndrome 1,"['pterygium; popliteal; lethal type', 'multiple pterygium syndrome; aslan type', 'popliteal pterygium syndrome; bartsocas-papas type 1', 'popliteal pterygium syndrome; lethal type']" +"""GARD:0010572""",christianson syndrome,['x-linked angelman-like syndrome'] +"""GARD:0010573""","camptodactyly syndrome, guadalajara type 3",[] +"""GARD:0010574""",åland islands eye disease,"['aied', 'forsius-eriksson syndrome', 'forsius-eriksson type ocular albinism']" +"""GARD:0010578""",hyper-igm syndrome type 2,"['aid deficiency', 'activation-induced cytidine deaminase deficiency', 'higm2']" +"""GARD:0010579""",hyper-igm syndrome type 3,"['higm3', 'hyper-igm syndrome due to cd40 deficiency']" +"""GARD:0010580""",hyper-igm syndrome type 4,['higm4'] +"""GARD:0010581""",hyper-igm syndrome type 5,"['higm5', 'hyper-igm syndrome due to ung deficiency', 'hyper-igm syndrome due to uracil n-glycosylase']" +"""GARD:0010582""",zechi-ceide syndrome,['occipital atretic cephalocele-unusual facies-large feet syndrome'] +"""GARD:0010583""",neonatal ichthyosis-sclerosing cholangitis syndrome,"['ihsc', 'ichthyosis-hypotrichosis-sclerosing cholangitis syndrome', 'nisch syndrome']" +"""GARD:0010584""","mesomelic dysplasia, savarirayan type","['mesomelic dysplasia with absent fibulas and triangular tibias', 'triangular tibia-fibular aplasia syndrome']" +"""GARD:0010585""",chronic neutrophilic leukemia,[] +"""GARD:0010586""",loeys-dietz syndrome 2,"['aortic aneurysm; familial thoracic 3', 'marfan syndrome; type ii; formerly']" +"""GARD:0010587""",adult-onset autosomal dominant leukodystrophy,"['adld', 'adult-onset autosomal dominant demyelinating leukodystrophy']" +"""GARD:0010588""",loeys-dietz syndrome 4,['aneurysm; aortic and cerebral; with arterial tortuosity and skeletal manifestations'] +"""GARD:0010590""",mesoaxial synostotic syndactyly with phalangeal reduction,"['mssd', 'syndactyly type 9', 'syndactyly; malik-percin type']" +"""GARD:0010591""",1q21.1 microduplication syndrome,"['dup(1)(q21.1)', 'trisomy 1q21.1']" +"""GARD:0010592""",19q13.11 microdeletion syndrome,"['del(19)(q13.11)', 'monosomy 19q13.11']" +"""GARD:0010593""",acute infantile liver failure due to synthesis defect of mtdna-encoded proteins,['acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins'] +"""GARD:0010594""",neurodegenerative syndrome due to cerebral folate transport deficiency,[] +"""GARD:0010595""",bnar syndrome,['bifid nose with or without anorectal and renal anomalies'] +"""GARD:0010597""",complete androgen insensitivity syndrome,"['cais', 'complete androgen resistance syndrome']" +"""GARD:0010601""","pituitary hormone deficiency, combined 1",[] +"""GARD:0010602""","combined pituitary hormone deficiencies, genetic forms","['familial congenital hypopituitarism', 'multiple pituitary hormone deficiencies; genetic forms']" +"""GARD:0010603""",non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,['non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome'] +"""GARD:0010604""",short stature-pituitary and cerebellar defects-small sella turcica syndrome,[] +"""GARD:0010605""",acrocapitofemoral dysplasia,[] +"""GARD:0010608""",atelosteogenesis type iii,"['ao3', 'aoiii', 'atelosteogenesis type 3']" +"""GARD:0010609""",growth delay due to insulin-like growth factor i resistance,['resistance to igf-1'] +"""GARD:0010611""","spondyloepimetaphyseal dysplasia, matrilin-3 type","['semd; matn3-related', 'semd; matrilin-3 type']" +"""GARD:0010612""",thoracomelic dysplasia,"['rivera-perez-salas syndrome', 'thoracolimb dysplasia; rivera type']" +"""GARD:0010614""",adrenomyeloneuropathy,[] +"""GARD:0010615""","telangiectasia, hereditary hemorrhagic, type 4",[] +"""GARD:0010616""",spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,[] +"""GARD:0010617""",congenital cystic eye,['congenital anophthalmos with cyst'] +"""GARD:0010618""","spondyloepimetaphyseal dysplasia, missouri type","['semd type 2', 'semd; missouri type', 'spondyloepimetaphyseal dysplasia type 2']" +"""GARD:0010619""","osteogenesis imperfecta, type ix",['oi; type ix'] +"""GARD:0010620""",smith-mccort dysplasia,[] +"""GARD:0010623""","cleidocranial dysplasia, recessive form",[] +"""GARD:0010624""",spondyloepiphyseal dysplasia tarda,[] +"""GARD:0010625""","complement component 8 deficiency, type ii","['c8 beta deficiency', 'c8 deficiency; type ii', 'complement component 8b deficiency', 'c8b deficiency']" +"""GARD:0010626""","complement component 8 deficiency, type i","['c8 deficiency; type i', 'c8ag deficiency', 'c8 alpha-gamma deficiency']" +"""GARD:0010627""",growth delay due to insulin-like growth factor type 1 deficiency,"['growth delay-deafness-intellectual disability syndrome', 'growth delay-hearing loss-intellectual disability syndrome', 'igf-1 deficiency', 'primary insulin-like growth factor deficiency']" +"""GARD:0010629""",spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome,"['sed-bds', 'tattoo dysplasia']" +"""GARD:0010630""",congenital tufting enteropathy,"['ied', 'intestinal epithelial dysplasia', 'non-syndromic congenital tufting enteropathy']" +"""GARD:0010631""",pleomorphic xanthoastrocytoma,['pxa'] +"""GARD:0010632""",subependymal giant cell astrocytoma,['sega'] +"""GARD:0010633""",myxopapillary ependymoma,[] +"""GARD:0010634""",anaplastic ependymoma,[] +"""GARD:0010635""",astroblastoma,[] +"""GARD:0010637""",anaplastic oligoastrocytoma,['amoa'] +"""GARD:0010638""",gangliocytoma,[] +"""GARD:0010639""",anaplastic ganglioglioma,[] +"""GARD:0010640""",dysembryoplastic neuroepithelial tumor,['dnet'] +"""GARD:0010641""",central neurocytoma,[] +"""GARD:0010642""",cerebellar liponeurocytoma,[] +"""GARD:0010643""",carney-stratakis syndrome,"['carney dyad', 'carney-stratakis dyad', 'gist-paraganglioma dyad', 'paraganglioma and gastric stromal sarcoma']" +"""GARD:0010644""",pineal parenchymal tumor of intermediate differenciation,[] +"""GARD:0010645""",dent disease type 2,[] +"""GARD:0010647""",spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,['smd-crd'] +"""GARD:0010648""",retinal cone dystrophy 3a,['cone dystrophy with night blindness and supernormal rod responses; pde6h-related'] +"""GARD:0010649""",cone dystrophy with supernormal rod response,"['cone dystrophy with supernormal rod erg', 'cone dystrophy with supernormal rod electroretinogram', 'cone dystrophy with supernormal scotopic electroretinogram']" +"""GARD:0010650""",retinal cone dystrophy 4,[] +"""GARD:0010651""",cone-rod dystrophy 1,[] +"""GARD:0010652""","cone-rod dystrophy, x-linked, 1",[] +"""GARD:0010653""",cone-rod dystrophy 3,[] +"""GARD:0010654""","cone-rod dystrophy, x-linked, 3",[] +"""GARD:0010655""",cone-rod dystrophy 5,[] +"""GARD:0010656""",cone-rod dystrophy 6,['retinal cone dystrophy 2'] +"""GARD:0010657""","maturity-onset diabetes of the young, type 2","['mody; glucokinase-related', 'mody; type 2']" +"""GARD:0010658""","maturity-onset diabetes of the young, type 3",['mody; type 3'] +"""GARD:0010659""","maturity-onset diabetes of the young, type 4",['mody; type 4'] +"""GARD:0010660""","maturity-onset diabetes of the young, type 6",['mody; type 6'] +"""GARD:0010661""","maturity-onset diabetes of the young, type 7",[] +"""GARD:0010662""","maturity-onset diabetes of the young, type 8, with exocrine dysfunction","['diabetes and pancreatic exocrine dysfunction', 'diabetes-pancreatic exocrine dysfunction syndrome']" +"""GARD:0010663""","maturity-onset diabetes of the young, type 9",[] +"""GARD:0010664""",baroreflex failure,[] +"""GARD:0010667""","autosomal dominant focal dystonia, dyt25 type","['dyt25', 'dystonia 25']" +"""GARD:0010670""",glycoproteinosis,[] +"""GARD:0010675""",fetal gaucher disease,['perinatal lethal gaucher disease'] +"""GARD:0010679""",umod-related autosomal dominant tubulointerstitial kidney disease,"['adtkd-umod', 'familial juvenile hyperuricemic nephropathy type 1', 'mckd2', 'medullary cystic kidney disease type 2', 'umod-related adtkd', 'uromodulin-associated kidney disease']" +"""GARD:0010680""",pseudohypoparathyroidism type 1b,[] +"""GARD:0010681""",pseudohypoparathyroidism type 1c,[] +"""GARD:0010682""",pseudohypoparathyroidism type 2,[] +"""GARD:0010684""",primary lateral sclerosis,"['adult-onset pls', 'adult-onset primary lateral sclerosis', 'pls']" +"""GARD:0010686""",neuroferritinopathy,"['adult basal ganglia disease', 'ferritin-related neurodegeneration', 'hereditary ferritinopathy']" +"""GARD:0010688""",neurodegeneration with brain iron accumulation 2b,"['neuroaxonal dystrophy; atypical', 'neurodegeneration with brain iron accumulation; pla2g6-related']" +"""GARD:0010691""",duane retraction syndrome 3 with or without deafness,[] +"""GARD:0010692""",orofaciodigital syndrome,"['ofd', 'oral-facial-digital syndrome']" +"""GARD:0010693""",orofaciodigital syndrome type 12,"['moran-barroso syndrome', 'ofd12', 'oral-facial-digital syndrome type 12']" +"""GARD:0010694""",orofaciodigital syndrome type 13,"['degner syndrome', 'ofd13', 'oral-facial-digital syndrome type 13']" +"""GARD:0010695""","atrial septal defect, ostium primum type",['asd; ostium primum type'] +"""GARD:0010696""","atrial septal defect, sinus venosus type",['asd; sinus venosus type'] +"""GARD:0010697""","atrial septal defect, coronary sinus type","['asd; coronary sinus type', 'unroofed coronary sinus']" +"""GARD:0010698""",noonan syndrome 2,['noonan syndrome; autosomal recessive'] +"""GARD:0010699""",noonan syndrome 4,[] +"""GARD:0010700""",noonan syndrome 5,[] +"""GARD:0010701""",noonan syndrome 6,[] +"""GARD:0010704""",pontocerebellar hypoplasia type 1,"['norman disease', 'pch1']" +"""GARD:0010705""",pontocerebellar hypoplasia type 2,['pch2'] +"""GARD:0010706""",cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,[] +"""GARD:0010707""","deafness with labyrinthine aplasia, microtia, and microdontia","['hearing loss with labyrinthine aplasia; microtia; and microdontia', 'lamm syndrome', 'microdontia-type i microtia-deafness syndrome', 'microdontia-type i microtia-hearing loss syndrome']" +"""GARD:0010708""",pontocerebellar hypoplasia type 3,"['cerebellar atrophy with progressive microcephaly', 'pch3']" +"""GARD:0010710""",pontocerebellar hypoplasia type 6,"['fatal infantile encephalopathy with mitochondrial respiratory chain defects', 'pch6']" +"""GARD:0010711""",genetic peripheral neuropathy,[] +"""GARD:0010713""",pudendal neuralgia,"['alcock syndrome', 'pudendal algia', 'pudendal nerve entrapment syndrome', 'pudendal neuralgia by pudendal nerve entrapment', 'pudendalgia']" +"""GARD:0010714""",legius syndrome,"['nf1-like syndrome', 'neurofibromatosis 1-like syndrome']" +"""GARD:0010716""",hsd10 disease,"['2-methyl-3-hydroxybutyric aciduria', '2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency', 'hsd10 deficiency', 'mhbd deficiency']" +"""GARD:0010719""",noonan syndrome-like disorder with loose anagen hair,"['mazzanti syndrome', 'ns/lah']" +"""GARD:0010726""","spondylocostal dysostosis 1, autosomal recessive","['spondylothoracic dysplasia', 'vertebral anomalies', 'spondylothoracic dysostosis', 'costovertebral dysplasia', 'jarcho-levin syndrome']" +"""GARD:0010727""",koolen-de vries syndrome,['kdvs'] +"""GARD:0010728""",fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,"['fatal congenital hypertrophic cardiomyopathy due to gsd', 'fatal congenital hypertrophic cardiomyopathy due to glycogenosis']" +"""GARD:0010729""",chronic visceral acid sphingomyelinase deficiency,"['chronic visceral asmd', 'npd-b', 'niemann-pick disease type b']" +"""GARD:0010730""",pyridoxal phosphate-responsive seizures,"['pnpo deficiency', 'pnpo-related neonatal epileptic encephalopathy', 'pyridoxal phosphate-dependent seizures', ""pyridoxamine 5'-oxidase deficiency"", ""pyridoxamine 5'-phosphate oxidase deficiency""]" +"""GARD:0010731""",mcleod neuroacanthocytosis syndrome,"['mls', 'x-linked mcleod syndrome']" +"""GARD:0010732""",leukoencephalopathy with calcifications and cysts,"['lcc', 'labrune syndrome']" +"""GARD:0010734""",pleuropulmonary blastoma familial tumor susceptibility syndrome,"['dicer1 syndrome', 'ppb familial tumor susceptibility syndrome', 'ppbftds', 'pleuro-pulmonary blastoma familial tumor susceptibility syndrome']" +"""GARD:0010738""",primary hyperoxaluria type 3,[] +"""GARD:0010739""",neuronal ceroid lipofuscinosis,['ncl'] +"""GARD:0010740""",proximal 16p11.2 microdeletion syndrome,"['proximal del(16)(p11.2)', 'proximal monosomy 16p11.2']" +"""GARD:0010741""","spondyloepimetaphyseal dysplasia, handigodu type",[] +"""GARD:0010744""",conjunctival malignant melanoma,['conjunctival melanoma'] +"""GARD:0010752""",epidermolysis bullosa simplex,['ebs'] +"""GARD:0010753""",pachyonychia congenita,['pc'] +"""GARD:0010754""",rubinstein-taybi syndrome due to 16p13.3 microdeletion,[] +"""GARD:0010755""",16p13.3 microduplication syndrome,"['distal duplication 16p', 'distal trisomy 16p', 'dup(16)(p13.3)', 'telomeric duplication 16p', 'trisomy 16pter']" +"""GARD:0010756""",multiple epiphyseal dysplasia,"['edm', 'med', 'polyepiphyseal dysplasia']" +"""GARD:0010758""",pseudohypoparathyroidism,[] +"""GARD:0010760""",glycogen storage disease due to muscle and heart glycogen synthase deficiency,"['gsd due to muscle and heart glycogen synthase deficiency', 'gsd type 0b', 'glycogen storage disease type 0b', 'glycogenosis due to muscle and heart glycogen synthase deficiency', 'glycogenosis type 0b']" +"""GARD:0010761""",2-hydroxyglutaric aciduria,['2-hydroxyglutaric acidemia'] +"""GARD:0010762""",hereditary arterial and articular multiple calcification syndrome,"['calja', 'calcification of joints and arteries']" +"""GARD:0010763""",duane retraction syndrome 1,[] +"""GARD:0010764""",hypermethioninemia due to glycine n-methyltransferase deficiency,"['glycine n-methyltransferase deficiency', 'hypermethioninemia due to gnmt deficiency']" +"""GARD:0010766""",congenital factor xiii deficiency,['fibrin-stabilizing factor deficiency'] +"""GARD:0010767""",mogs-cdg,"['cdg syndrome type iib', 'cdg-iib', 'cdg2b', 'carbohydrate deficient glycoprotein syndrome type iib', 'congenital disorder of glycosylation type 2b', 'congenital disorder of glycosylation type iib', 'glucosidase 1 deficiency']" +"""GARD:0010768""",familial or sporadic hemiplegic migraine,[] +"""GARD:0010769""",laing early-onset distal myopathy,"['distal myopathy type 1', 'gowers disease', 'mpd1']" +"""GARD:0010771""",kallmann syndrome,"['congenital hypogonadotropic hypogonadism with anosmia', 'olfacto-genital pathological sequence']" +"""GARD:0010772""",hypogonadotropic hypogonadism 4 with or without anosmia,[] +"""GARD:0010773""",hypogonadotropic hypogonadism 5 with or without anosmia,[] +"""GARD:0010774""",hypogonadotropic hypogonadism 6 with or without anosmia,[] +"""GARD:0010775""",syndromic multisystem autoimmune disease due to itch deficiency,[] +"""GARD:0010777""",peritoneal cystic mesothelioma,"['benign multicystic peritoneal mesothelioma', 'multicystic mesothelioma', 'multilocular peritoneal inclusion cyst']" +"""GARD:0010778""",recurrent infection due to specific granule deficiency,['neutrophil-specific granule deficiency'] +"""GARD:0010779""",clippers,['chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids'] +"""GARD:0010780""",diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,[] +"""GARD:0010781""",goldmann-favre syndrome,"['enhanced s-cone syndrome', 'retinoschisis with early nyctalopia']" +"""GARD:0010782""",stickler syndrome,['hereditary progressive arthroophthalmopathy'] +"""GARD:0010783""",bilateral frontal polymicrogyria,[] +"""GARD:0010784""",bilateral frontoparietal polymicrogyria,[] +"""GARD:0010785""",bilateral parasagittal parieto-occipital polymicrogyria,[] +"""GARD:0010786""",bilateral generalized polymicrogyria,[] +"""GARD:0010788""",loeys-dietz syndrome,['aortic aneurysm syndrome due to tgf-beta receptors anomalies'] +"""GARD:0010790""",cone rod dystrophy,[] +"""GARD:0010791""",logopenic progressive aphasia,"['lpa', 'logopenic primary progressive aphasia', 'logopenic variant ppa']" +"""GARD:0010792""",semantic dementia,"['semantic primary progressive aphasia', 'semantic variant ppa']" +"""GARD:0010793""",progressive non-fluent aphasia,"['agramatic variant of ppa', 'agramatic variant of primary progressive aphasia', 'non-fluent variant ppa']" +"""GARD:0010794""",paroxysmal hemicrania,[] +"""GARD:0010795""",hemicrania continua,[] +"""GARD:0010796""",hypnic headache,[] +"""GARD:0010801""",autosomal dominant tubulointerstitial kidney disease,"['adtkd', 'familial juvenile hyperuricemic nephropathy', 'mckd', 'medullary cystic kidney disease']" +"""GARD:0010803""",lamellar ichthyosis,"['classic lamellar ichthyosis', 'congenital lamellar ichthyosis', 'li']" +"""GARD:0010804""",metaplastic carcinoma of the breast,[] +"""GARD:0010805""",mutyh-related attenuated familial adenomatous polyposis,"['mutyh-related afap', 'mutyh-related attenuated fap', 'mutyh-related attenuated familial polyposis coli']" +"""GARD:0010806""",female restricted epilepsy with intellectual disability,"['efmr', 'juberg-hellman syndrome']" +"""GARD:0010808""",insulin autoimmune syndrome,['hirata disease'] +"""GARD:0010809""",postorgasmic illness syndrome,['pois'] +"""GARD:0010810""",fatty acid hydroxylase-associated neurodegeneration,['fahn'] +"""GARD:0010813""",1q21.1 microdeletion syndrome,"['del(1)(q21)', 'monosomy 1q21.1']" +"""GARD:0010814""",thyrotoxic periodic paralysis,['thyrotoxic hypokalemic periodic paralysis'] +"""GARD:0010816""",lichen planus pigmentosus,"['lp pigmentosa', 'lp pigmentosus', 'lichen planus pigmentosa', 'lichen planus pigmentosus inversus']" +"""GARD:0010817""",autosomal dominant spastic paraplegia type 31,['spg31'] +"""GARD:0010818""",combined malonic and methylmalonic acidemia,"['cmamma', 'combined malonic and methylmalonic aciduria']" +"""GARD:0010821""",eastern equine encephalitis,['eastern equine encephalomyelitis'] +"""GARD:0010822""",idiopathic spontaneous coronary artery dissection,['idiopathic scad'] +"""GARD:0010823""",obesity due to pro-opiomelanocortin deficiency,['pomc deficiency'] +"""GARD:0010824""",cushing syndrome due to macronodular adrenal hyperplasia,['primary bilateral macronodular adrenal hyperplasia'] +"""GARD:0010828""",familial hypocalciuric hypercalcemia,"['fbh', 'fbhh', 'fhh', 'familial benign hypercalcemia', 'familial benign hypocalciuric hypercalcemia']" +"""GARD:0010829""",hyperparathyroidism-jaw tumor syndrome,['hpt-jt'] +"""GARD:0010830""",nevus of ito,['nevus fuscocaeruleus acromiodeltoideus'] +"""GARD:0010837""",ring chromosome 2 syndrome,"['ring 2', 'ring chromosome 2']" +"""GARD:0010839""",ring chromosome 3 syndrome,"['ring 3', 'ring chromosome 3']" +"""GARD:0010841""",ring chromosome 5 syndrome,"['ring 5', 'ring chromosome 5']" +"""GARD:0010846""",ring chromosome 11 syndrome,"['rc11', 'ring 11', 'ring chromosome 11', 'r(11) syndrome']" +"""GARD:0010855""",ring chromosome 16 syndrome,"['ring 16', 'ring chromosome 16']" +"""GARD:0010860""",monosomy 21,"['21q deletion syndrome', '21q- syndrome', 'partial 21q monosomy']" +"""GARD:0010865""",monosomy 18q,"['18q deletion syndrome', '18q- syndrome', 'deletion 18q']" +"""GARD:0010867""",familial multiple trichoepithelioma,[] +"""GARD:0010870""",free sialic acid storage disease,[] +"""GARD:0010871""",intermediate severe salla disease,[] +"""GARD:0010872""",malignant peripheral nerve sheath tumor,"['mpnst', 'malignant neurilemmoma', 'malignant neurofibroma', 'malignant schwannoma', 'neurofibrosarcoma', 'neurogenic sarcoma']" +"""GARD:0010875""",heterotaxia,"['heterotaxy syndrome', 'lateralization defect', 'visceral heterotaxy']" +"""GARD:0010876""",congenital radioulnar synostosis,['radioulnar fusion'] +"""GARD:0010877""",familial tumoral calcinosis,[] +"""GARD:0010878""",familial normophosphatemic tumoral calcinosis,[] +"""GARD:0010879""",familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome,['hypercalcemic tumoral calcinosis'] +"""GARD:0010880""",leber congenital amaurosis 7,[] +"""GARD:0010881""",leber congenital amaurosis 8,[] +"""GARD:0010882""",leber congenital amaurosis 13,[] +"""GARD:0010883""",leber congenital amaurosis 14,[] +"""GARD:0010884""",leber congenital amaurosis 15,[] +"""GARD:0010885""",leber congenital amaurosis 16,[] +"""GARD:0010886""",frontal fibrosing alopecia,['ffa'] +"""GARD:0010887""",osteofibrous dysplasia,['ofd'] +"""GARD:0010889""",hanac syndrome,"['autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome', 'hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome']" +"""GARD:0010890""",non-involuting congenital hemangioma,['nich'] +"""GARD:0010891""",gm1 gangliosidosis,"['beta-galactosidase-1 deficiency', 'glb1 deficiency', 'landing disease']" +"""GARD:0010892""",blepharophimosis-intellectual disability syndrome,['bmrs'] +"""GARD:0010898""",primary acquired pure red cell aplasia,['primary acquired prca'] +"""GARD:0010899""",inclusion body myopathy with paget disease of bone and frontotemporal dementia,"['ibmpfd', 'limb-girdle muscular dystrophy with paget disease of bone', 'pagetoid amyotrophic lateral sclerosis', 'pagetoid neuroskeletal syndrome']" +"""GARD:0010900""",hereditary diffuse gastric cancer,"['fdgc', 'familial diffuse cancer of stomach', 'familial diffuse gastric cancer', 'hdgc', 'hereditary diffuse cancer of stomach', 'hereditary diffuse gastric adenocarcinoma']" +"""GARD:0010902""",neuroacanthocytosis,[] +"""GARD:0010903""",brachyolmia,[] +"""GARD:0010905""",dyskeratosis congenita,"['dc', 'dkc', 'zinsser-engman-cole syndrome']" +"""GARD:0010906""",primary pigmented nodular adrenocortical disease,"['ppnad', 'primary pigmented nodular adrenal dysplasia']" +"""GARD:0010907""","x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia","['cid due to magt1 deficiency', 'combined immunodeficiency due to magt1 deficiency', 'xmen']" +"""GARD:0010909""",adult-onset foveomacular vitelliform dystrophy,"['aofmd', 'avmd', 'adult-onset foveomacular dystrophy', 'adult-onset foveomacular dystrophy with choroidal neovascularization', 'adult-onset vitelliform macular dystrophy', 'gass disease', 'pseudo-best disease', 'pseudo-vitelliform macular dystrophy']" +"""GARD:0010910""",medial condensing osteitis of the clavicle,['osteitis condensans of the clavicle'] +"""GARD:0010911""",autoimmune pancreatitis,['aip'] +"""GARD:0010913""",griscelli syndrome,"['chédiak-higashi-like syndrome', 'griscelli-pruniéras syndrome', 'partial albinism-immunodeficiency syndrome']" +"""GARD:0010914""",familial avascular necrosis of femoral head,['familial osteonecrosis of the femoral head'] +"""GARD:0010915""",x-linked lymphoproliferative disease,"['duncan disease', 'purtilo syndrome', 'xlp']" +"""GARD:0010916""",x-linked lymphoproliferative disease due to xiap deficiency,"['x-linked lymphoproliferative syndrome type 2', 'xiap deficiency syndrome', 'xlp2']" +"""GARD:0010917""",hypomyelination with atrophy of basal ganglia and cerebellum,['h-abc'] +"""GARD:0010919""",pontine tegmental cap dysplasia,['ptcd'] +"""GARD:0010921""",intraneural perineurioma,[] +"""GARD:0010922""","49,xxxyy syndrome",[] +"""GARD:0010923""",erythrokeratoderma variabilis progressiva,[] +"""GARD:0010924""",carney triad,[] +"""GARD:0010925""",la crosse encephalitis,['californian encephalitis'] +"""GARD:0010927""",cryopyrin-associated periodic syndrome,"['caps', 'cryopyrinopathy', 'nlrp3-associated systemic autoinflammatory disease']" +"""GARD:0010929""",nodular regenerative hyperplasia of the liver,['non-cirrhotic nodulation'] +"""GARD:0010933""","microcephaly, seizures, and developmental delay","['epileptic encephalopathy; early infantile; 10', 'developmental and epileptic encephalopathy 10']" +"""GARD:0010934""",monocytopenia with susceptibility to infections,"['combined immunodeficiency with susceptibility to mycobacterial; viral and fungal infections', 'dendritic cell; monocyte; b and nk lymphoid deficiency', 'monomac', 'monocyte-b-natural killer-dendritic cell deficiency syndrome', 'monocytopenia and mycobacterial infection syndrome']" +"""GARD:0010935""",16q24.3 microdeletion syndrome,"['del(16)(q24.3)', 'monosomy 16q24.3']" +"""GARD:0010936""",17q23.1q23.2 microdeletion syndrome,"['del(17)(q23.1q23.2)', 'monosomy 17q23.1q23.2']" +"""GARD:0010937""","lipodystrophy, congenital generalized, type 4","['lipodystrophy; berardinelli-seip congenital; type 4; with muscular dystrophy', 'berardinelli-seip congenital lipodystrophy; type 4; with muscular dystrophy']" +"""GARD:0010938""",microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,['mppc syndrome'] +"""GARD:0010939""",cloves syndrome,"['congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome', 'congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome']" +"""GARD:0010940""",superior limbic keratoconjunctivitis,"['slk', 'theodore superior limbic keratoconjunctivitis', 'theodore syndrome']" +"""GARD:0010941""",anterior uveitis,['iridocyclitis'] +"""GARD:0010942""",glaucoma secondary to spherophakia/ectopia lentis and megalocornea,['megalocornea-spherophakia-secondary glaucoma syndrome'] +"""GARD:0010943""",1q44 microdeletion syndrome,"['del(1)(q44)', 'monosomy 1q44']" +"""GARD:0010944""",cog6-cgd,"['cdg syndrome type iil', 'cdg-iil', 'cdg2l', 'congenital disorder of glycosylation type 2l', 'congenital disorder of glycosylation type iil']" +"""GARD:0010945""",short stature-optic atrophy-pelger-huët anomaly syndrome,['soph syndrome'] +"""GARD:0010946""",corticosteroid-sensitive aseptic abscess syndrome,"['aseptic abscesses syndrome', 'aseptic systemic abscesses', 'disseminated aseptic abscesses']" +"""GARD:0010947""",uv-sensitive syndrome,[] +"""GARD:0010948""",erythropoietic uroporphyria associated with myeloid malignancy,[] +"""GARD:0010949""",non-24-hour sleep-wake syndrome,['hypernychthemeral syndrome'] +"""GARD:0010951""",necrobiotic xanthogranuloma,[] +"""GARD:0010954""",3-methylcrotonyl-coa carboxylase deficiency,"['3-methylcrotonylglycinuria', 'mcc deficiency', 'mccd']" +"""GARD:0010955""",noonan syndrome,[] +"""GARD:0010956""",hyper-ige syndrome,[] +"""GARD:0010957""",irida syndrome,['iron-refractory iron deficiency anemia'] +"""GARD:0010958""",oculocutaneous albinism,['oca'] +"""GARD:0010959""",familial isolated pituitary adenoma,['fipa'] +"""GARD:0010962""",tempi syndrome,['telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome'] +"""GARD:0010964""",chronic graft versus host disease,[] +"""GARD:0010965""",fgfr2-related bent bone dysplasia,['perinatal lethal bent bone dysplasia'] +"""GARD:0010966""",systemic-onset juvenile idiopathic arthritis,"['still disease', 'systemic-onset jia']" +"""GARD:0010969""",enthesitis-related juvenile idiopathic arthritis,"['enthesitis-related jia', 'juvenile era']" +"""GARD:0010970""",psoriasis-related juvenile idiopathic arthritis,"['juvenile psoriatic arthritis', 'psoriasis-related jia']" +"""GARD:0010972""",distal monosomy 17q,"['distal 17q deletion', 'monosomy 17qter', 'telomeric deletion 17q']" +"""GARD:0010973""",adult neuronal ceroid lipofuscinosis,"['ancl', 'adult ncl', 'kufs disease']" +"""GARD:0010974""","migraine, familial hemiplegic, 3",[] +"""GARD:0010977""",non-syndromic pontocerebellar hypoplasia,"['pch', 'pontoneocerebellar atrophy', 'pontoneocerebellar hypoplasia']" +"""GARD:0010980""",autoimmune polyendocrinopathy type 3,"['aps type 3', 'aps3', 'autoimmune polyendocrine syndrome type 3', 'autoimmune polyglandular syndrome type 3']" +"""GARD:0010981""",hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia,"['alsp', 'adult-onset leukoencephalopathy with axonal spheroids and pigmented glia', 'autosomal dominant leukoencephalopathy with neuroaxonal spheroids', 'fpsg', 'familial dementia; neumann type', 'familial progressive subcortical gliosis', 'gpsc', 'hdls', 'hereditary diffuse leukoencephalopathy with spheroids', 'pold', 'pigmentary orthochromatic leukodystrophy', 'subcortical gliosis of neumann']" +"""GARD:0010983""",disseminated superficial actinic porokeratosis,[] +"""GARD:0010984""",mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency,"['msmd due to complete il12rb1 deficiency', 'msmd due to complete interleukin 12 receptor beta 1 deficiency', 'mendelian susceptibility to interleukin 12 receptor beta 1 deficiency']" +"""GARD:0010985""",left ventricular noncompaction,"['lvnc', 'left ventricular hypertrabeculation', 'spongy myocardium']" +"""GARD:0010986""",granulomatous slack skin,[] +"""GARD:0010989""",mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,"['mdp syndrome', 'mdpl syndrome', 'mandibular hypoplasia-hearing loss-progeroid syndrome']" +"""GARD:0010991""",19p13.12 microdeletion syndrome,"['del(19)(p13.12)', 'monosomy 19p13.12']" +"""GARD:0010992""",autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,"['autosomal recessive spastic ataxia type 4', 'spax4']" +"""GARD:0010994""",genitopatellar syndrome,['absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome'] +"""GARD:0010995""",infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,[] +"""GARD:0010996""",distal 17p13.1 microdeletion syndrome,['distal del(17)(p13.1)'] +"""GARD:0010997""",aneurysm-osteoarthritis syndrome,[] +"""GARD:0010998""",2q23.1 microdeletion syndrome,"['del(2)(q23.1)', 'monosomy 2q23.1', 'pseudo-angelman syndrome']" +"""GARD:0010999""",severe intellectual disability and progressive spastic paraplegia,['ap4 deficiency syndrome'] +"""GARD:0011000""",constitutional megaloblastic anemia with severe neurologic disease,"['dhfr deficiency', 'dihydrofolate reductase deficiency']" +"""GARD:0011003""",karyomegalic interstitial nephritis,"['kin', 'systemic karyomegaly']" +"""GARD:0011004""",linear and whorled nevoid hypermelanosis,['lwnh'] +"""GARD:0011005""",febrile infection-related epilepsy syndrome,"['aerrps', 'acute encephalitis with refractory repetitive partial seizures', 'acute non-herpetic encephalitis with severe refractory status epilepticus', 'desc syndrome', 'devastating epileptic encephalopathy in school-aged children', 'fires', 'fever-induced refractory epileptic encephalopathy in school-aged children', 'idiopathic catastrophic epileptic encephalopathy', 'severe refractory status epilepticus owing to presumed encephalitis']" +"""GARD:0011006""",painful orbital and systemic neurofibromas-marfanoid habitus syndrome,[] +"""GARD:0011007""",onychocytic matricoma,['acanthoma of the nail matrix'] +"""GARD:0011008""",nestor-guillermo progeria syndrome,['ngps'] +"""GARD:0011009""","chondrodysplasia with joint dislocations, gpapp type",['gpapp deficiency'] +"""GARD:0011010""",hereditary sensorimotor neuropathy with hyperelastic skin,[] +"""GARD:0011011""",multifocal motor neuropathy,"['mmn', 'mmncb', 'multifocal motor neuropathy with conduction block']" +"""GARD:0011855""",ameloblastic carcinoma,[] +"""GARD:0011890""",peroxisome biogenesis disorder,"['pbd-zsd', 'peroxisome biogenesis disorder spectrum', 'peroxisome biogenesis disorder-zellweger spectrum disorder']" +"""GARD:0011892""",spinal arteriovenous metameric syndrome,"['cobb syndrome', 'cutaneomeningospinal angiomatosis', 'sams 1-31']" +"""GARD:0011893""",mandibuloacral dysplasia,['mad'] +"""GARD:0011894""",pulmonary alveolar microlithiasis,[] +"""GARD:0011895""",pellucid marginal degeneration,[] +"""GARD:0011897""",progressive cone dystrophy,['cone dystrophy'] +"""GARD:0011898""",linear lichen planus,"['blaschkoid lp', 'blaschkoid lichen planus', 'linear lp']" +"""GARD:0011899""",neurodegeneration with brain iron accumulation,['nbia'] +"""GARD:0011901""",juvenile amyotrophic lateral sclerosis,"['jals', 'juvenile charcot disease', 'juvenile lou gehrig disease']" +"""GARD:0011902""",congenital myasthenic syndrome,['cms'] +"""GARD:0011903""",immunodeficiency due to selective anti-polysaccharide antibody deficiency,['specific anti-polysaccharide antibody deficiency'] +"""GARD:0011904""",capillary malformation-arteriovenous malformation,['cm-avm'] +"""GARD:0011906""",cylindrical spirals myopathy,[] +"""GARD:0011907""",acute panmyelosis with myelofibrosis,"['acute myelodysplasia with myelofibrosis', 'acute myelofibrosis', 'acute myelosclerosis']" +"""GARD:0011908""",dirofilariasis,[] +"""GARD:0011910""",atypical werner syndrome,['atypical progeroid syndrome'] +"""GARD:0011911""",deafness-infertility syndrome,"['dis', 'hearing loss-infertility syndrome']" +"""GARD:0011914""",heritable pulmonary arterial hypertension,"['fpah', 'familial pulmonary arterial hypertension', 'hpah', 'hereditary pulmonary arterial hypertension']" +"""GARD:0011915""",cap myopathy,['cap disease'] +"""GARD:0011918""",autosomal dominant nocturnal frontal lobe epilepsy,"['adnfle', 'autosomal dominant sleep-related hypermotor epilepsy']" +"""GARD:0011923""",small cell carcinoma of the bladder,"['poorly differentiated neuroendocrine carcinoma of the bladder', 'sccb', 'small cell bladder cancer', 'small cell bladder carcinoma', 'small cell carcinoma of the urinary bladder']" +"""GARD:0011925""",x-linked centronuclear myopathy,"['x-linked myotubular myopathy', 'xlcnm', 'xlmtm']" +"""GARD:0011927""",hereditary sensory neuropathy-deafness-dementia syndrome,"['hsan1e', 'hsn1e', 'hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome']" +"""GARD:0011951""",rhabdomyosarcoma,[] +"""GARD:0011953""",non-hodgkin lymphoma,['nhl'] +"""GARD:0011962""",familial partial lipodystrophy,['fpld'] +"""GARD:0011971""",renal nutcracker syndrome,"['left renal vein entrapment syndrome', 'rns']" +"""GARD:0011972""",autosomal dominant optic atrophy,"['adoa', 'doa']" +"""GARD:0011973""",angioimmunoblastic t-cell lymphoma,"['ailt', 'immunoblastic lymphadenopathy', 'lymphogranulomatosis x', 't-cell lymphoma; aild type']" +"""GARD:0011974""",3q29 microdeletion syndrome,"['3q subtelomere deletion syndrome', '3qter deletion', 'del(3)(q29)', 'monosomy 3q29', 'monosomy 3qter']" +"""GARD:0011979""",autoimmune encephalitis,"['ae', 'aie']" +"""GARD:0011980""",hypomyelination-congenital cataract syndrome,[] +"""GARD:0011982""",primary membranoproliferative glomerulonephritis,"['mesangiocapillary glomerulonephritis', 'primary mpgn']" +"""GARD:0011983""",activated pi3k-delta syndrome,"['apds', 'senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation']" +"""GARD:0011984""",hereditary pheochromocytoma-paraganglioma,['familial pheochromocytoma-paraganglioma'] +"""GARD:0011985""","48,xyyy syndrome",[] +"""GARD:0011992""",adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,"['acquired adult-onset immunodeficiency', 'adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies']" +"""GARD:0012008""",congenital tracheal stenosis,[] +"""GARD:0012010""",isolated biliary atresia,"['isolated atresia of bile ducts', 'non-syndromic biliary atresia']" +"""GARD:0012011""",autosomal dominant intermediate charcot-marie-tooth disease type e,"['cmtdie', 'charcot-marie-tooth disease-nephropathy syndrome']" +"""GARD:0012015""",lipoblastoma,[] +"""GARD:0012016""",primary melanoma of the central nervous system,"['malignant melanoma of meninges', 'primary melanoma of the cns']" +"""GARD:0012027""",differentiated thyroid carcinoma,"['papillary or follicular thyroid carcinoma', 'well-differentiated thyroid carcinoma']" +"""GARD:0012032""",levocardia,"['isolated levocardia', 'levocardia with situs inversus']" +"""GARD:0012033""",nemaline myopathy,"['nem', 'nm', 'nemaline rod myopathy']" +"""GARD:0012036""",facial onset sensory and motor neuronopathy,['fosmn syndrome'] +"""GARD:0012048""",immunotactoid glomerulopathy,['immunotactoid glomerulonephritis'] +"""GARD:0012059""",gm3 synthase deficiency,['st3gal5-cdg'] +"""GARD:0012062""",visual snow syndrome,[] +"""GARD:0012074""",oculo-auriculo-vertebral spectrum,"['oav spectrum', 'oculoauriculovertebral spectrum']" +"""GARD:0012076""",7q11.23 microduplication syndrome,"['dup(7)(q11.23)', 'trisomy 7q11.23']" +"""GARD:0012085""",isolated microphthalmia-anophthalmia-coloboma,['isolated anophthalmia-microphthalmia syndrome'] +"""GARD:0012097""",lysosomal acid lipase deficiency,['lal deficiency'] +"""GARD:0012099""",cholesteryl ester storage disease,['cholesterol ester storage disease'] +"""GARD:0012107""",autosomal dominant non-syndromic intellectual disability,[] +"""GARD:0012109""",trichothiodystrophy,[] +"""GARD:0012117""",autosomal recessive primary microcephaly,"['mcph', 'microcephalia vera', 'microcephaly vera', 'true microcephaly']" +"""GARD:0012123""",congenital absence of upper arm and forearm with hand present,['humero-radio-ulnar intercalary transverse meromelia'] +"""GARD:0012124""",macrophage activation syndrome,[] +"""GARD:0012125""",plasmablastic lymphoma,['pbl'] +"""GARD:0012128""","methylmalonic acidemia with homocystinuria, type cblc","['cblc defect', 'cobalamin c defect', 'combined defect in adenosylcobalamin and methylcobalamin synthesis; type cblc', 'methylmalonic aciduria with homocystinuria; type cblc']" +"""GARD:0012144""",dopa-responsive dystonia,"['hpd with diurnal fluctuation', 'hereditary progressive dystonia with diurnal fluctuation']" +"""GARD:0012162""",reducing body myopathy,[] +"""GARD:0012163""",brain-lung-thyroid syndrome,['choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome'] +"""GARD:0012166""",5q14.3 microdeletion syndrome,"['del(5)(q14.3)', 'monosomy 5q14.3']" +"""GARD:0012173""",cdkl5-deficiency disorder,['cdd'] +"""GARD:0012185""",benign recurrent intrahepatic cholestasis,"['bric', 'summerskill-walshe-tygstrup syndrome']" +"""GARD:0012199""",early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,['emardd'] +"""GARD:0012219""",15q24 microdeletion syndrome,"['del(15)(q24)', 'monosomy 15q24']" +"""GARD:0012232""",childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,"['autosomal recessive spinocerebellar ataxia type 7', 'scar7']" +"""GARD:0012234""","autosomal recessive ataxia, beauce type","['arca1', 'autosomal recessive cerebellar ataxia type 1', 'scar8']" +"""GARD:0012241""",familial lipoprotein lipase deficiency,['lpl deficiency'] +"""GARD:0012244""",new-onset refractory status epilepticus,['norse'] +"""GARD:0012251""",isolated ectopia lentis,"['ectopia lentis syndrome', 'familial ectopia lentis']" +"""GARD:0012257""",t-cell/histiocyte rich large b cell lymphoma,['thrlbcl'] +"""GARD:0012264""",col4a1-related familial vascular leukoencephalopathy,"['col4a1-related brain small vessel disease with hemorrhage', 'col4a1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome']" +"""GARD:0012267""",congenital insensitivity to pain-anosmia-neuropathic arthropathy,['scn9a-related congenital insensitivity to pain'] +"""GARD:0012280""",central congenital hypothyroidism,['secondary hypothyroidism'] +"""GARD:0012281""",chronic atrial and intestinal dysrhythmia syndrome,"['caid syndrome', 'chronic atrial dysrhythmia-intestinal motility disorder']" +"""GARD:0012291""",lissencephaly,[] +"""GARD:0012299""",bradyopsia,"['perrs', 'prolonged electroretinal response suppression']" +"""GARD:0012300""",pelizaeus-merzbacher-like disease,['pmld'] +"""GARD:0012301""",thomsen and becker disease,['myotonia congenita'] +"""GARD:0012308""",celiac artery compression syndrome,"['dunbar syndrome', 'mals', 'median arcuate ligament syndrome']" +"""GARD:0012311""",congenital lactase deficiency,[] +"""GARD:0012312""",image syndrome,['intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome'] +"""GARD:0012314""",autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,[] +"""GARD:0012315""",alacrimia-choreoathetosis-liver dysfunction syndrome,"['ngly1 deficiency', 'ngly1-cddg']" +"""GARD:0012316""",autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency,"['alps due to ctla4 haploinsuffiency', 'chai', 'ctla-4 haploinsufficiency with autoimmune infiltration disease']" +"""GARD:0012328""",hereditary sensory and autonomic neuropathy type 5,"['congenital insensitivity to pain and thermal analgesia', 'hsan5', 'hereditary sensory and autonomic neuropathy type v']" +"""GARD:0012331""",intestinal lymphangiectasia,[] +"""GARD:0012335""",carcinosarcoma of the corpus uteri,"['malignant mixed müllerian tumor of the corpus uteri', 'mixed müllerian cancer of corpus uteri', 'uterine carcinosarcoma']" +"""GARD:0012338""",transcobalamin deficiency,"['inherited deficiency of transcobalamin', 'transcobalamin ii deficiency']" +"""GARD:0012344""",rare lichen planus,['rare lp'] +"""GARD:0012347""",dihydropyrimidinuria,['dihydropyrimidinase deficiency'] +"""GARD:0012348""",cog5-cdg,"['cdg syndrome type iii', 'cdg-iii', 'cdg2i', 'carbohydrate deficient glycoprotein syndrome type iii', 'congenital disorder of glycosylation type 2i', 'congenital disorder of glycosylation type iii']" +"""GARD:0012351""","breast-ovarian cancer, familial, susceptibility to, 1",['hboc1'] +"""GARD:0012352""","breast-ovarian cancer, familial, susceptibility to, 2",['hboc2'] +"""GARD:0012353""",autosomal recessive axonal neuropathy with neuromyotonia,"['aran-nm', 'arcmt2-nm', 'autosomal recessive charcot-marie-tooth disease type 2 with neuromyotonia']" +"""GARD:0012354""",distal renal tubular acidosis with anemia,['drta with anemia'] +"""GARD:0012356""",loeys-dietz syndrome 5,['rienhoff syndrome'] +"""GARD:0012357""",sting-associated vasculopathy with onset in infancy,['savi'] +"""GARD:0012360""",microcytic anemia with liver iron overload,[] +"""GARD:0012362""",familial hyperaldosteronism type iii,"['fh-iii', 'fh3', 'familial hyperaldosteronism type 3']" +"""GARD:0012365""",spinocerebellar ataxia type 19/22,['sca19/22'] +"""GARD:0012366""",spinocerebellar ataxia type 35,['sca35'] +"""GARD:0012367""",spinocerebellar ataxia type 36,"['asidan', 'sca36']" +"""GARD:0012368""",spinocerebellar ataxia type 37,"['sca37', 'spinocerebellar ataxia with altered vertical eye movements']" +"""GARD:0012369""",spinocerebellar ataxia type 38,['sca38'] +"""GARD:0012371""",spinocerebellar ataxia type 40,['sca40'] +"""GARD:0012372""",autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,"['adca-dn syndrome', 'autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome']" +"""GARD:0012375""",idiopathic cd4 lymphocytopenia,[] +"""GARD:0012382""",sudden infant death-dysgenesis of the testes syndrome,['siddt'] +"""GARD:0012383""",vasculitis due to ada2 deficiency,['vasculitis due to dada2'] +"""GARD:0012384""",hypopigmentation-punctate palmoplantar keratoderma syndrome,"['cole disease', 'guttate hypopigmentation and punctate palmoplantar keratoderma', 'hypopigmentation and punctate keratosis of the palms and soles']" +"""GARD:0012385""",male infertility due to large-headed multiflagellar polyploid spermatozoa,"['macrocephalic sperm head syndrome', 'male infertility due to macrozoospermia']" +"""GARD:0012388""",proximal 16p11.2 microduplication syndrome,"['proximal dup(16)(p11.2)', 'proximal trisomy 16p11.2']" +"""GARD:0012390""",schnitzler syndrome,"['chronic urticaria with gammopathy', 'chronic urticaria with macroglobulinemia']" +"""GARD:0012391""",developmental and epileptic encephalopathy 26,['epileptic encephalopathy; early infantile; 26'] +"""GARD:0012393""",dk1-cdg,"['cdg syndrome type im', 'cdg-im', 'cdg1m', 'carbohydrate deficient glycoprotein syndrome type im', 'congenital disorder of glycosylation type 1m', 'congenital disorder of glycosylation type im', 'dolichol kinase deficiency', 'hypotonia and ichthyosis due to dolichol phosphate deficiency']" +"""GARD:0012394""",rft1-cdg,"['cdg syndrome type in', 'cdg-in', 'cdg1n', 'carbohydrate deficient glycoprotein syndrome type in', 'congenital disorder of glycosylation type 1n', 'congenital disorder of glycosylation type in', 'man5glcnac2-pp-dol flippase deficiency']" +"""GARD:0012395""",dpm3-cdg,"['cdg syndrome type io', 'cdg-io', 'cdg1o', 'carbohydrate deficient glycoprotein syndrome type io', 'congenital disorder of glycosylation type 1o', 'congenital disorder of glycosylation type io']" +"""GARD:0012396""",alg11-cdg,"['cdg syndrome type ip', 'cdg-ip', 'cdg1p', 'carbohydrate deficient glycoprotein syndrome type ip', 'congenital disorder of glycosylation type 1p', 'congenital disorder of glycosylation type ip']" +"""GARD:0012397""",srd5a3-cdg,"['cdg syndrome type iq', 'cdg-iq', 'cdg1q', 'congenital disorder of glycosylation type 1q', 'congenital disorder of glycosylation type iq']" +"""GARD:0012398""",ddost-cdg,"['cdg syndrome type ir', 'cdg-ir', 'cdg1r', 'carbohydrate deficient glycoprotein syndrome type ir', 'congenital disorder of glycosylation type 1r', 'congenital disorder of glycosylation type ir']" +"""GARD:0012401""",alg13-cdg,"['cdg syndrome type is', 'cdg-is', 'cdg1s', 'congenital disorder of glycosylation type 1s', 'congenital disorder of glycosylation type is']" +"""GARD:0012403""",slc35a2-cdg,"['cdg syndrome type iim', 'cdg-iim', 'cdg2m', 'congenital disorder of glycosylation type 2m', 'congenital disorder of glycosylation type iim']" +"""GARD:0012404""","alacrima, achalasia, and mental retardation syndrome",[] +"""GARD:0012405""",ssr4-cdg,"['cdg syndrome type iy', 'cdg-iy', 'cdg1y', 'carbohydrate deficient glycoprotein syndrome type iy', 'congenital disorder of glycosylation type 1y', 'congenital disorder of glycosylation type iy']" +"""GARD:0012409""",slc35a1-cdg,"['cdg syndrome type iif', 'cdg-iif', 'cdg2f', 'cmp-sialic acid transporter deficiency', 'carbohydrate deficient glycoprotein syndrome type iif', 'congenital disorder of glycosylation type 2f', 'congenital disorder of glycosylation type iif']" +"""GARD:0012411""",cog8-cdg,"['cdg syndrome type iih', 'cdg-iih', 'cdg2h', 'carbohydrate deficient glycoprotein syndrome type iih', 'congenital disorder of glycosylation type 2h', 'congenital disorder of glycosylation type iih']" +"""GARD:0012412""",cog4-cdg,"['cdg syndrome type iij', 'cdg-iij', 'cdg2j', 'carbohydrate deficient glycoprotein syndrome type iij', 'congenital disorder of glycosylation type 2j', 'congenital disorder of glycosylation type iij']" +"""GARD:0012413""",tmem165-cdg,"['cdg syndrome type iik', 'cdg-iik', 'cdg2k', 'carbohydrate deficient glycoprotein syndrome type iik', 'congenital disorder of glycosylation type 2k', 'congenital disorder of glycosylation type iik']" +"""GARD:0012416""",congenital muscular dystrophy with intellectual disability and severe epilepsy,"['cdg syndrome type iu', 'cdg-iu', 'cdg1u', 'cmd with intellectual disability and severe epilepsy', 'carbohydrate deficient glycoprotein syndrome type iu', 'congenital disorder of glycosylation type 1u', 'congenital disorder of glycosylation type iu', 'dpm2-cdg']" +"""GARD:0012417""",man1b1-cdg,"['carbohydrate deficient glycoprotein syndrome type ii due to man1b1 deficiency', 'congenital disorder of glycosylation type 2 due to man1b1 deficiency', 'congenital disorder of glycosylation type ii due to man1b1 deficiency', 'intellectual disability-truncal obesity syndrome']" +"""GARD:0012421""",partial duplication of the short arm of chromosome x,"['partial duplication of chromosome xp', 'partial trisomy of chromosome xp', 'partial trisomy of the short arm of chromosome x']" +"""GARD:0012426""",congenital intrauterine infection-like syndrome,"['blc-pmg', 'baraitser-brett-piesowicz syndrome', 'baraitser-reardon syndrome', 'bilateral band-like calcification with polymicrogyria', 'microcephaly-intracranial calcification-intellectual disability syndrome', 'pseudo-torch syndrome']" +"""GARD:0012428""",cutaneous collagenous vasculopathy,['ccv'] +"""GARD:0012429""",autosomal dominant charcot-marie-tooth disease type 2n,['cmt2n'] +"""GARD:0012431""",autosomal dominant charcot-marie-tooth disease type 2,"['autosomal dominant axonal charcot-marie-tooth disease', 'cmt2', 'hereditary motor and sensory neuropathy type 2']" +"""GARD:0012432""",autosomal dominant charcot-marie-tooth disease type 2l,['cmt2l'] +"""GARD:0012433""",charcot-marie-tooth disease type 1,"['autosomal dominant demyelinating charcot-marie-tooth disease', 'cmt1', 'charcot-marie-tooth neuropathy type 1', 'hereditary motor and sensory neuropathy type 1']" +"""GARD:0012434""",autosomal dominant charcot-marie-tooth disease type 2o,['cmt2o'] +"""GARD:0012435""",charcot-marie-tooth disease type 2p,['cmt2p'] +"""GARD:0012436""",autosomal dominant intermediate charcot-marie-tooth disease,['cmtdi'] +"""GARD:0012437""",autosomal dominant intermediate charcot-marie-tooth disease type a,['cmtdia'] +"""GARD:0012438""",autosomal dominant intermediate charcot-marie-tooth disease type b,['cmtdib'] +"""GARD:0012439""",autosomal dominant intermediate charcot-marie-tooth disease type c,['cmtdic'] +"""GARD:0012440""",charcot-marie-tooth disease type 4,"['ar-cmt1', 'autosomal recessive demyelinating charcot-marie-tooth', 'cmt4']" +"""GARD:0012441""",charcot-marie-tooth disease type 4f,['cmt4f'] +"""GARD:0012442""",charcot-marie-tooth disease type 4h,['cmt4h'] +"""GARD:0012443""",charcot-marie-tooth disease type 4j,['cmt4j'] +"""GARD:0012444""",x-linked charcot-marie-tooth disease,"['cmtx', 'x-linked hereditary motor and sensory neuropathy']" +"""GARD:0012445""",x-linked charcot-marie-tooth disease type 6,"['cmt6x', 'cmtx6']" +"""GARD:0012446""",autosomal dominant charcot-marie-tooth disease type 2q,['cmt2q'] +"""GARD:0012447""",autosomal dominant charcot-marie-tooth disease type 2 with giant axons,"['autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons', 'cmt2 with giant axons', 'hmsn2 with giant axons']" +"""GARD:0012448""",autosomal recessive charcot-marie-tooth disease with hoarseness,"['arcmt2k', 'autosomal recessive axonal cmt4c4', 'autosomal recessive axonal charcot-marie-tooth disease type 2k']" +"""GARD:0012449""",autosomal recessive axonal hereditary motor and sensory neuropathy,"['ar-cmt2', 'autosomal recessive axonal charcot-marie-tooth disease type 2']" +"""GARD:0012451""",charcot-marie-tooth disease type 2r,['cmt2r'] +"""GARD:0012452""",autosomal recessive intermediate charcot-marie-tooth disease,['ri-cmt'] +"""GARD:0012453""",autosomal recessive intermediate charcot-marie-tooth disease type a,['ri-cmt type a'] +"""GARD:0012454""",autosomal recessive intermediate charcot-marie-tooth disease type b,['ri-cmt type b'] +"""GARD:0012458""",sickle cell-hemoglobin d disease syndrome,['hbsd disease'] +"""GARD:0012459""",sickle cell disease associated with another hemoglobin anomaly,['double heterozygotes sickling disorder'] +"""GARD:0012469""",glutaric acidemia type 3,"['glutaric aciduria type 3', 'glutaryl-coa oxidase deficiency']" +"""GARD:0012470""",peroxisomal beta-oxidation disorder,[] +"""GARD:0012471""",leukoencephalopathy-dystonia-motor neuropathy syndrome,[] +"""GARD:0012472""",cadds,"['contiguous abcd1 dxs1357e deletion syndrome', 'zellweger-like contiguous gene deletion syndrome']" +"""GARD:0012474""",periodontal ehlers-danlos syndrome,"['eds viii', 'ehlers-danlos syndrome type 8', 'ehlers-danlos syndrome; periodontitis type', 'periodontal eds', 'peds']" +"""GARD:0012476""","disorder of peroxisomal alpha-, beta- and omega-oxidation",[] +"""GARD:0012478""",bleeding disorder due to p2y12 defect,['bleeding disorder due to adp platelet receptor p2y12 defect'] +"""GARD:0012480""",tetrasomy 21,['isochromosome 21'] +"""GARD:0012483""",cor triatriatum dexter,"['cor triatriatum dextrum', 'divided right atrium']" +"""GARD:0012484""",cor triatriatum sinister,"['cor triatriatum sinistrum', 'divided left atrium']" +"""GARD:0012486""",corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,['graham-cox syndrome'] +"""GARD:0012487""",intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,['da silva syndrome'] +"""GARD:0012491""",x-linked lissencephaly with abnormal genitalia,"['x-linked lissencephaly with ambiguous genitalia', 'x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome', 'xlag (x-linked lissencephaly with abnormal genitalia) syndrome']" +"""GARD:0012492""",20p12.3 microdeletion syndrome,"['del(20)(p12.3)', 'monosomy 20p12.3']" +"""GARD:0012494""",aromatase excess syndrome,"['aexs', 'familial hyperestrogenism', 'hereditary prepubertal gynecomastia']" +"""GARD:0012501""",intellectual disability-severe speech delay-mild dysmorphism syndrome,['foxp1 syndrome'] +"""GARD:0012502""",male infertility due to globozoospermia,"['male infertility due to round-headed spermatozoa', 'round-headed sperm syndrome']" +"""GARD:0012503""",atypical gaucher disease due to saposin c deficiency,[] +"""GARD:0012504""",gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,"['cardiovascular gaucher disease', 'gaucher disease type 3c', 'gaucher-like disease']" +"""GARD:0012505""",encephalopathy due to prosaposin deficiency,['combined prosaposin deficiency'] +"""GARD:0012510""",gangliosidosis,[] +"""GARD:0012511""",lipid storage disease,[] +"""GARD:0012513""",male infertility with spermatogenesis disorder due to single gene mutation,[] +"""GARD:0012521""",igg4-related disease,"['igg4-related sclerosing disease', 'immunoglobulin g4-related sclerosing disease']" +"""GARD:0012524""",l1 syndrome,"['crash syndrome', 'corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome', 'l1cam syndrome']" +"""GARD:0012525""",x-linked complicated spastic paraplegia type 1,['spg1'] +"""GARD:0012526""",x-linked complicated corpus callosum dysgenesis,[] +"""GARD:0012528""",dnajb6-related limb-girdle muscular dystrophy d1,"['autosomal dominant limb-girdle muscular dystrophy type 1d', 'dnajb6-related lgmd d1', 'lgmd type 1d', 'lgmd1d', 'limb-girdle muscular dystrophy type 1d']" +"""GARD:0012530""",tnp03-related limb-girdle muscular dystrophy d2,"['autosomal dominant limb-girdle muscular dystrophy type 1f', 'lgmd type 1f', 'lgmd1f', 'limb-girdle muscular dystrophy type 1f']" +"""GARD:0012531""",hnrnpdl-related limb-girdle muscular dystrophy d3,"['autosomal dominant limb-girdle muscular dystrophy type 1g', 'hnrnpdl-related lgmd d3', 'lgmd type 1g', 'lgmd1g', 'limb-girdle muscular dystrophy type 1g']" +"""GARD:0012532""",autosomal dominant limb-girdle muscular dystrophy type 1h,['lgmd1h'] +"""GARD:0012533""",fkrp-related limb-girdle muscular dystrophy r9,"['autosomal recessive limb-girdle muscular dystrophy type 2i', 'fkrp-related lgmd r9', 'lgmd due to fkrp deficiency', 'lgmd type 2i', 'lgmd2i', 'limb-girdle muscular dystrophy due to fkrp deficiency', 'limb-girdle muscular dystrophy type 2i']" +"""GARD:0012534""",titin-related limb-girdle muscular dystrophy r10,"['autosomal recessive limb-girdle muscular dystrophy type 2j', 'lgmd type 2j', 'lgmd2j', 'limb-girdle muscular dystrophy type 2j', 'titin-related lgmd r10']" +"""GARD:0012535""",pomt1-related limb-girdle muscular dystrophy r11,"['autosomal recessive limb-girdle muscular dystrophy type 2k', 'lgmd type 2k', 'lgmd2k', 'limb-girdle muscular dystrophy type 2k', 'limb-girdle muscular dystrophy-intellectual disability syndrome', 'pomt1-related lgmd r11']" +"""GARD:0012536""",anoctamin-5-related limb-girdle muscular dystrophy r12,"['anoctamin-5-related lgmd r12', 'autosomal recessive limb-girdle muscular dystrophy type 2l', 'lgmd type 2l', 'lgmd2l', 'limb-girdle muscular dystrophy type 2l']" +"""GARD:0012538""",fukutin-related limb-girdle muscular dystrophy r13,"['autosomal recessive lgmd type 2m', 'autosomal recessive limb-girdle muscular dystrophy type 2m', 'fukutin-related lgmd r13', 'lgmd type 2m', 'lgmd2m']" +"""GARD:0012539""",pomt2-related limb-girdle muscular dystrophy r14,"['autosomal recessive limb-girdle muscular dystrophy type 2n', 'lgmd type 2n', 'lgmd2n', 'limb-girdle muscular dystrophy type 2n', 'pomt2-related lgmd r14']" +"""GARD:0012540""",pomgnt1-related limb-girdle muscular dystrophy r15,"['autosomal recessive limb-girdle muscular dystrophy type 2o', 'lgmd type 2o', 'lgmd2o', 'limb-girdle muscular dystrophy type 2o', 'pomgnt1-related lgmd r15']" +"""GARD:0012541""",alpha-dystroglycan-related limb-girdle muscular dystrophy r16,"['alpha-dystroglycan-related lgmd r16', 'autosomal recessive limb-girdle muscular dystrophy type 2p', 'lgmd type 2p', 'lgmd2p', 'limb-girdle muscular dystrophy type 2p']" +"""GARD:0012542""",plectin-related limb-girdle muscular dystrophy r17,"['autosomal recessive limb-girdle muscular dystrophy type 2q', 'lgmd type 2q', 'lgmd2q', 'limb-girdle muscular dystrophy type 2q', 'plectin-related lgmd r17']" +"""GARD:0012543""",trappc11-related limb-girdle muscular dystrophy r18,"['autosomal recessive limb-girdle muscular dystrophy type 2s', 'lgmd type 2s', 'lgmd2s', 'limb-girdle muscular dystrophy type 2s', 'trappc11-related lgmd r18']" +"""GARD:0012544""",gmppb-related limb-girdle muscular dystrophy r19,"['autosomal recessive limb-girdle muscular dystrophy type 2t', 'gmppb-related lgmd r19', 'lgmd type 2t', 'lgmd2t', 'limb-girdle muscular dystrophy type 2t']" +"""GARD:0012547""",selective igm deficiency,['selective immunoglobulin m deficiency'] +"""GARD:0012550""",isolated congenital adermatoglyphia,"['congenital absence of fingerprints', 'immigration delay disease']" +"""GARD:0012551""",familial congenital mirror movements,"['familial congenital controlateral synkinesia', 'hereditary congenital controlateral synkinesia', 'hereditary congenital mirror movements', 'isolated congenital controlateral synkinesia', 'isolated congenital mirror movements']" +"""GARD:0012556""",non-acquired isolated growth hormone deficiency,"['congenital ighd', 'congenital isolated gh deficiency', 'congenital isolated growth hormone deficiency']" +"""GARD:0012558""","intellectual developmental disorder, autosomal dominant 5",['mental retardation; autosomal dominant 5'] +"""GARD:0012559""",hurler syndrome,"['hurler disease', 'mps1h', 'mpsih', 'mucopolysaccharidosis type 1h', 'mucopolysaccharidosis type ih']" +"""GARD:0012560""",hurler-scheie syndrome,"['mps1h/s', 'mpsih/s', 'mucopolysaccharidosis type 1h/s', 'mucopolysaccharidosis type ih/s']" +"""GARD:0012561""",scheie syndrome,"['mps1s', 'mpsis', 'mucopolysaccharidosis type 1s', 'mucopolysaccharidosis type is']" +"""GARD:0012562""",mucopolysaccharidosis type 4,"['mps4', 'mpsiv', 'morquio disease', 'mucopolysaccharidosis type iv']" +"""GARD:0012567""",pla2g6-associated neurodegeneration,['plan'] +"""GARD:0012568""",adult-onset dystonia-parkinsonism,"['dystonia-parkinsonism; paisan-ruiz type', 'park14', 'pla2g6-related dystonia-parkinsonism']" +"""GARD:0012569""",mitochondrial membrane protein-associated neurodegeneration,"['mpan', 'nbia due to c19orf12 mutation', 'nbia4', 'neurodegeneration with brain iron accumulation due to c19orf12 mutation', 'neurodegeneration with brain iron accumulation type 4']" +"""GARD:0012570""",beta-propeller protein-associated neurodegeneration,"['bpan', 'nbia5', 'neurodegeneration with brain iron accumulation type 5', 'senda', 'static encephalopathy of childhood with neurodegeneration in adulthood']" +"""GARD:0012571""",coasy protein-associated neurodegeneration,"['copan', 'nbia6', 'neurodegeneration with brain iron accumulation due to coasy mutation']" +"""GARD:0012584""",congenital muscular dystrophy due to dystroglycanopathy,['cmd due to dystroglycanopathy'] +"""GARD:0012585""",congenital muscular dystrophy due to lmna mutation,"['l-cmd', 'lmna-related congenital muscular dystrophy']" +"""GARD:0012586""",congenital muscular dystrophy type 1b,"['cmd1b', 'mdc1b']" +"""GARD:0012587""",congenital muscular dystrophy with integrin alpha-7 deficiency,['congenital muscular dystrophy with itga7 deficiency'] +"""GARD:0012588""",congenital muscular alpha-dystroglycanopathy with brain and eye anomalies,"['lissencephaly type 2 with muscular and ocular involvement', 'mddga']" +"""GARD:0012590""",congenital fibrosis of extraocular muscles,['feom'] +"""GARD:0012591""",hereditary myopathy with early respiratory failure,"['edström myopathy', 'hibm-erf', 'hmerf', 'hereditary inclusion body myopathy with early respiratory failure', 'mfm-titinopathy', 'myofibrillar myopathy with early respiratory failure', 'myofibrillar myopathy-titinopathy']" +"""GARD:0012592""",oculopharyngodistal myopathy,"['opdm', 'oculopharyngeal distal myopathy']" +"""GARD:0012596""",primary lipodystrophy,[] +"""GARD:0012597""",genetic lipodystrophy,[] +"""GARD:0012598""","familial partial lipodystrophy, köbberling type","['fpld1', 'familial partial lipodystrophy type 1']" +"""GARD:0012599""",akt2-related familial partial lipodystrophy,['akt2-related fpld'] +"""GARD:0012600""",pparg-related familial partial lipodystrophy,"['fpld3', 'familial partial lipodystrophy type 3', 'pparg-related fpld']" +"""GARD:0012601""",plin1-related familial partial lipodystrophy,"['fpld4', 'plin1-related fpld']" +"""GARD:0012602""",acquired lipodystrophy,[] +"""GARD:0012603""",acquired generalized lipodystrophy,"['acquired lipoatrophic diabetes', 'lawrence syndrome', 'lawrence-seip syndrome']" +"""GARD:0012604""",lipodystrophy due to peptidic growth factors deficiency,"['combined insulin; insulin-like growth factor 1 (igf1) and epidermal growth factor (egf) deficiency', 'hoepffner-dreyer-reimers syndrome', 'werner-like syndrome due to combined growth factor deficiency']" +"""GARD:0012610""",slc39a13-related spondylodysplastic ehlers-danlos syndrome,"['scd-eds', 'slc39a13-related speds', 'slc39a13-related spondylodysplastic eds', 'spondylocheirodysplastic ehlers-danlos syndrome', 'speds-slc39a13']" +"""GARD:0012613""",cardiac-valvular ehlers-danlos syndrome,"['cardiac-valvular eds', 'cveds']" +"""GARD:0012621""","methylmalonic acidemia with homocystinuria, type cblj","['cblj defects', 'cobalamin j defect', 'combined defect in adenosylcobalamin and methylcobalamin synthesis; type cblj', 'methylmalonic aciduria with homocystinuria; type cblj']" +"""GARD:0012623""",vitamin b12-responsive methylmalonic acidemia,"['adenosylcobalamin deficiency', 'vitamin b12-responsive methylmalonic aciduria']" +"""GARD:0012631""",stapes ankylosis with broad thumbs and toes,['teunissen-cremers syndrome'] +"""GARD:0012632""",multiple mitochondrial dysfunctions syndrome,[] +"""GARD:0012635""",laurence-moon syndrome,[] +"""GARD:0012638""",bacterial susceptibility due to tlr signaling pathway deficiency,[] +"""GARD:0012640""",frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,"['alx1-related frontonasal dysplasia', 'frontonasal dysplasia type 3']" +"""GARD:0012641""",frontonasal dysplasia-alopecia-genital anomalies syndrome,"['alx4-related fndag', 'craniofrontonasal dysplasia with alopecia and hypogonadism', 'frontonasal dysplasia type 2', 'frontonasal dysplasia with alopecia and genital abnomality']" +"""GARD:0012642""",frontorhiny,"['alx3-related frontonasal dysplasia', 'frontonasal dysplasia type 1', 'isolated median cleft face syndrome']" +"""GARD:0012643""",lethal congenital contracture syndrome,['lccs'] +"""GARD:0012644""",lethal congenital contracture syndrome type 3,['lccs3'] +"""GARD:0012645""",lethal congenital contracture syndrome 4,[] +"""GARD:0012648""",isolated congenital megalocornea,['congenital anterior megalophthalmia'] +"""GARD:0012650""",amoebiasis due to free-living amoebae,[] +"""GARD:0012652""",leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,"['lbsl', 'leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome']" +"""GARD:0012653""",dock2 deficiency,[] +"""GARD:0012656""",castleman disease,"['angiofollicular ganglionic hyperplasia', 'angiofollicular lymph hyperplasia']" +"""GARD:0012662""",cerebrofacial arteriovenous metameric syndrome,['cams'] +"""GARD:0012663""",facial arteriovenous malformation,[] +"""GARD:0012664""",congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency,"['congenital adrenal hyperplasia due to cytochrome por deficiency', 'por deficiency', 'pord']" +"""GARD:0012665""",classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,['classic 21-ohd cah'] +"""GARD:0012669""","x-linked intellectual disability, najm type","['micpch', 'x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome']" +"""GARD:0012673""",actinic lichen planus,"['actinic lp', 'lichen planus actinus', 'lichen planus subtropicus', 'lichen planus tropicus', 'lichenoid melanodermatitis', 'summertime actinic lichenoid eruption']" +"""GARD:0012674""",annular lichen planus,['annular lp'] +"""GARD:0012675""",atrophic lichen planus,['atrophic lp'] +"""GARD:0012676""",annular atrophic lichen planus,['annular atrophic lp'] +"""GARD:0012677""",lichen planus pemphigoides,['lp pemphigoides'] +"""GARD:0012678""",lipoic acid synthetase deficiency,[] +"""GARD:0012679""",lipoic acid biosynthesis defect,['lipoate biosynthesis defect'] +"""GARD:0012680""",lipoyl transferase 1 deficiency,[] +"""GARD:0012681""",childhood-onset spasticity with hyperglycinemia,"['childhood-onset spasticity with variant non-ketotic hyperglycinemia', 'spasticity-ataxia-gait anomalies syndrome']" +"""GARD:0012682""",horizontal gaze palsy with progressive scoliosis,"['hgpps', 'progressive external ophthalmoplegia and scoliosis']" +"""GARD:0012683""",distal hereditary motor neuropathy,"['distal spinal muscular atrophy', 'dhmn', 'dsma']" +"""GARD:0012684""",familial episodic pain syndrome,['feps'] +"""GARD:0012686""",diffuse cutaneous mastocytosis,"['dcm', 'diffuse cutaneous maculopapulous mastocytosis']" +"""GARD:0012687""",cutaneous mastocytoma,"['cutaneous local mastocytoma', 'multiple mastocytoma', 'solitary mastocytoma']" +"""GARD:0012688""",hereditary sensory and autonomic neuropathy,['hsan'] +"""GARD:0012697""",tumor of cranial and spinal nerves,['rare tumor of cranial and spinal nerves'] +"""GARD:0012698""",perineurioma,[] +"""GARD:0012703""",osteochondritis dissecans,['könig disease'] +"""GARD:0012704""",osteochondrosis,[] +"""GARD:0012706""",painful legs and moving toes syndrome,['plmt syndrome'] +"""GARD:0012713""",congenital laryngeal palsy,['congenital vocal cord paralysis'] +"""GARD:0012715""",x-linked intellectual disability-hypotonia-movement disorder syndrome,[] +"""GARD:0012716""",elastoderma,[] +"""GARD:0012718""",autosomal recessive centronuclear myopathy,['ar-cnm'] +"""GARD:0012719""",autosomal dominant centronuclear myopathy,['ad-cnm'] +"""GARD:0012720""",fingerprint body myopathy,[] +"""GARD:0012722""",familial dyskinesia and facial myokymia,['fdfm'] +"""GARD:0012724""",periventricular nodular heterotopia,['pvnh'] +"""GARD:0012731""",x-linked hereditary sensory and autonomic neuropathy with deafness,"['x-linked hsan with deafness', 'x-linked hsan with hearing loss', 'x-linked auditory neuropathy with peripheral sensory neuropathy type 1', 'x-linked hereditary sensory and autonomic neuropathy with hearing loss']" +"""GARD:0012732""",hereditary sensory and autonomic neuropathy type 7,"['cip with hyperhidrosis and gastrointestinal dysfunction', 'congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction', 'hsan with hyperhidrosis and gastrointestinal dysfunction', 'hsan7', 'hereditary sensory and autonomic neuropathy type vii', 'hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction']" +"""GARD:0012733""",rare hereditary disease with peripheral neuropathy,[] +"""GARD:0012736""",glomerular disease,[] +"""GARD:0012740""",non-amyloid fibrillary glomerulopathy,"['congo red-negative amyloidosis-like glomerulopathy', 'non-amyloid fibrillary glomerulonephritis']" +"""GARD:0012741""",immunotactoid or fibrillary glomerulopathy,['immunotactoid or fibrillary glomerulonephritis'] +"""GARD:0012742""",juvenile polymyositis,['juvenile pm'] +"""GARD:0012744""",chronic intestinal pseudoobstruction,['cipo'] +"""GARD:0012749""",autosomal recessive spastic paraplegia type 32,['spg32'] +"""GARD:0012757""",acute myeloid leukemia,"['aml', 'acute myelogenous leukemia']" +"""GARD:0012758""",acute myeloid leukemia with recurrent genetic anomaly,['aml with recurrent genetic anomaly'] +"""GARD:0012759""",acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2),['aml with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)'] +"""GARD:0012760""",unclassified acute myeloid leukemia,['unclassified aml'] +"""GARD:0012761""",acute myeloid leukaemia with myelodysplasia-related features,"['aml with multilineage dysplasia', 'aml with myelodysplasia-related features', 'acute myeloid leukemia with multilineage dysplasia']" +"""GARD:0012762""",therapy related acute myeloid leukemia and myelodysplastic syndrome,"['secondary aml', 'secondary acute myeloid leukemia', 'therapy-related aml and myelodysplastic syndrome']" +"""GARD:0012763""",myeloid sarcoma,"['chloroma', 'extramedullary myeloid tumor', 'granulocytic sarcoma']" +"""GARD:0012765""",transient myeloproliferative syndrome,"['tmd', 'transient abnormal myelopoiesis', 'transient myeloproliferative disease']" +"""GARD:0012766""",microduplication xp11.22p11.23 syndrome,"['dup(x)(p11.22p11.23)', 'trisomy xp11.22p11.23']" +"""GARD:0012768""",reversible cerebral vasoconstriction syndrome,['rcvs'] +"""GARD:0012772""",rare malignant breast tumor,['rare breast cancer'] +"""GARD:0012773""",rare adenocarcinoma of the breast,[] +"""GARD:0012774""",salivary gland type cancer of the breast,['salivary gland type carcinoma of the breast'] +"""GARD:0012775""",rare benign breast tumor,[] +"""GARD:0012777""",multiple congenital anomalies-hypotonia-seizures syndrome type 2,['mcahs type 2'] +"""GARD:0012779""",familial retinal arterial macroaneurysm,"['fram', 'retinal arterial macroaneurysm and supravalvular pulmonic stenosis']" +"""GARD:0012781""",multiple congenital anomalies-hypotonia-seizures syndrome,"['congenital disorder of glycosylation due to pign deficiency', 'pign-cdg']" +"""GARD:0012782""",congenital disorder of glycosylation with developmental anomaly,['cdg with developmental anomaly'] +"""GARD:0012784""",livedoid vasculopathy,"['livedo reticularis with summer ulcerations', 'milian atrophie blanche', 'segmental hyalinizing vasculitis']" +"""GARD:0012794""","autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form","['autosomal recessive dystrophic epidermolysis bullosa generalisata mitis', 'autosomal recessive dystrophic epidermolysis bullosa; non-hallopeau-siemens type', 'generalized rdeb; intermediate form', 'rdeb; non-hallopeau-siemens type']" +"""GARD:0012796""",dentinogenesis imperfecta type 2,"['capdepont teeth', 'dgi-2', 'di-2', 'dentinogenesis imperfecta; shields type 2']" +"""GARD:0012798""",early-onset autosomal dominant alzheimer disease,"['eofad', 'early-onset familial autosomal dominant alzheimer disease', 'familial alzheimer disease']" +"""GARD:0012799""",alzheimer disease 2,"['alzheimer disease 2; late-onset', 'alzheimer disease associated with apoe4']" +"""GARD:0012800""",pten hamartoma tumor syndrome,['phts'] +"""GARD:0012801""",proteus-like syndrome,[] +"""GARD:0012806""",autosomal dominant spondylocostal dysostosis,['autosomal dominant spondylocostal dysplasia'] +"""GARD:0012807""","spondylocostal dysostosis 6, autosomal recessive",[] +"""GARD:0012811""",multisystemic smooth muscle dysfunction syndrome,[] +"""GARD:0012814""",8q24.3 microdeletion syndrome,"['del(8)(q24.3)', 'deletion 8q24.3', 'monosomy 8q24.3', 'verheij syndrome']" +"""GARD:0012815""",severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,[] +"""GARD:0012816""",8q12 microduplication syndrome,"['dup(8)(q12)', 'trisomy 8q12']" +"""GARD:0012819""",generalized pustular psoriasis,['gpp'] +"""GARD:0012820""",pustulosis palmaris et plantaris,"['lpp', 'localized pustular psoriasis', 'ppp', 'palmoplantar pustulosis']" +"""GARD:0012821""",severe congenital nemaline myopathy,[] +"""GARD:0012822""",typical nemaline myopathy,[] +"""GARD:0012823""",intermediate nemaline myopathy,[] +"""GARD:0012824""",adult-onset nemaline myopathy,[] +"""GARD:0012825""",foxg1 syndrome,['foxg1-related epileptic-dyskinetic encephalopathy'] +"""GARD:0012827""",hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,['hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome'] +"""GARD:0012829""",pulmonary non-tuberculous mycobacterial infection,['non-tuberculous mycobacterial lung disease'] +"""GARD:0012832""","cardiomyopathy, dilated, 1s",[] +"""GARD:0012835""",acute interstitial pneumonia,"['acute interstitial pneumonitis', 'hamman-rich syndrome']" +"""GARD:0012843""",disseminated peritoneal leiomyomatosis,"['dpl', 'diffuse peritoneal leiomyomatosis', 'lpd', 'leiomyomatosis peritonealis disseminate']" +"""GARD:0012844""",high myopia-sensorineural deafness syndrome,['high myopia-sensorineural hearing loss syndrome'] +"""GARD:0012845""",cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,['chops syndrome'] +"""GARD:0012851""","intellectual developmental disorder, autosomal dominant 6, with or without seizures",['mental retardation; autosomal dominant 6; with or without seizures'] +"""GARD:0012854""",paroxysmal extreme pain disorder,['familial rectal pain'] +"""GARD:0012860""",spinocerebellar ataxia with axonal neuropathy type 2,"['aoa2', 'ataxia-oculomotor apraxia type 2', 'scan 2', 'scar1']" +"""GARD:0012861""",rfvt3-related riboflavin transporter deficiency,"['rtd3', 'riboflavin transporter deficiency 3']" +"""GARD:0012862""",generalized peeling skin syndrome,"['generalized pss', 'generalized deciduous skin']" +"""GARD:0012863""",acral peeling skin syndrome,"['acral pss', 'acral deciduous skin', 'localized pss', 'localized deciduous skin']" +"""GARD:0012864""",hyperlipidemia due to hepatic triacylglycerol lipase deficiency,"['hyperlipidemia due to hl deficiency', 'hyperlipidemia due to htgl deficiency', 'hyperlipidemia due to hepatic lipase deficiency', 'hyperlipidemia due to hepatic triglyceride lipase deficiency']" +"""GARD:0012867""",cushing disease,"['corticotroph pituitary adenoma', 'pituitary corticotroph micro-adenoma', 'pituitary-dependent cushing syndrome']" +"""GARD:0012868""",irvan syndrome,['idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome'] +"""GARD:0012874""","osteogenesis imperfecta, type x",['oi; type x'] +"""GARD:0012875""","osteogenesis imperfecta, type xi",['oi; type xi'] +"""GARD:0012889""",isolated childhood apraxia of speech,"['isolated cas', 'isolated developmental verbal dyspraxia', 'pure cas', 'pure childhood apraxia of speech', 'speech and language disorder with orofacial dyspraxia', 'speech-language disorder type 1']" +"""GARD:0012892""",infantile hypertrophic cardiomyopathy due to mrpl44 deficiency,"['coxpd16', 'combined oxidative phosphorylation defect type 16']" +"""GARD:0012893""",leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,"['coxpd12', 'combined oxidative phosphorylation defect type 12', 'ltbl']" +"""GARD:0012894""",zika virus disease,['zika virus infection'] +"""GARD:0012900""",developmental and epileptic encephalopathy 4,['epileptic encephalopathy; early infantile; 4'] +"""GARD:0012901""",developmental and epileptic encephalopathy 25 with amelogenesis imperfecta,['epileptic encephalopathy; early infantile; 25; with amelogenesis imperfecta'] +"""GARD:0012903""",optic atrophy-intellectual disability syndrome,"['bbsoas', 'bosch-boonstra-schaaf optic atrophy syndrome']" +"""GARD:0012913""",polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,['pmse syndrome'] +"""GARD:0012915""",x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency,"['x-linked msmd due to ikbkg deficiency', 'x-linked msmd due to nemo deficiency', 'x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency']" +"""GARD:0012916""",rh deficiency syndrome,['rh-null syndrome'] +"""GARD:0012919""",malignant migrating focal seizures of infancy,"['epilepsy of infancy with migrating focal seizures', 'mmpei', 'mmpsi', 'mpei', 'mpsi', 'malignant migrating partial epilepsy of infancy', 'malignant migrating partial seizures of infancy', 'migrating partial epilepsy of infancy', 'migrating partial seizures of infancy']" +"""GARD:0012921""",late-onset junctional epidermolysis bullosa,"['epidermolysis bullosa progressiva', 'jeb-lo', 'late-onset jeb']" +"""GARD:0012922""",intermediate generalized junctional epidermolysis bullosa,"['generalized atrophic benign epidermolysis bullosa', 'generalized junctional epidermolysis bullosa; non-herlitz type', 'intermediate generalized jeb', 'junctional epidermolysis bullosa generalisata mitis', 'junctional epidermolysis bullosa; disentis type']" +"""GARD:0012923""",localized junctional epidermolysis bullosa,"['jeb-nh loc', 'junctional epidermolysis bullosa; non-herlitz localized type', 'localized jeb']" +"""GARD:0012924""",preeclampsia,[] +"""GARD:0012925""",familial multiple lipomatosis,[] +"""GARD:0012927""",acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma,[] +"""GARD:0012928""",astrocytoma,['astrocytic tumor'] +"""GARD:0012931""",adnp syndrome,"['adnp-related syndromic intellectual disability-autism spectrum disorder', 'hvdas', 'helsmoortel-van der aa syndrome']" +"""GARD:0012943""",x-linked hypophosphatemia,"['x-linked hypophosphatemic rickets', 'xlh']" +"""GARD:0012949""",developmental and epileptic encephalopathy 5,['epileptic encephalopathy; early infantile; 5'] +"""GARD:0012958""",c1q deficiency,[] +"""GARD:0012959""",primary orthostatic hypotension,[] +"""GARD:0012963""",megdel syndrome,"['3-methylglutaconic aciduria with deafness-encephalopathy-leigh-like syndrome', '3-methylglutaconic aciduria with hearing loss-encephalopathy-leigh-like syndrome']" +"""GARD:0012964""",dilated cardiomyopathy with ataxia,"['3-methylglutaconic aciduria type 5', 'dcma syndrome', 'mga5']" +"""GARD:0012966""",3-methylglutaconic aciduria,[] +"""GARD:0012976""",mendelian susceptibility to mycobacterial diseases due to complete il12b deficiency,"['msmd due to complete il12b deficiency', 'msmd due to complete interleukin 12b deficiency', 'mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency']" +"""GARD:0012977""",mendelian susceptibility to mycobacterial diseases,"['idiopathic infection caused by bcg or atypical mycobacteria', 'msmd', 'mendelian susceptibility to atypical mycobacteria', 'mendelian susceptibility to mycobacterial infections']" +"""GARD:0012978""",proximal myopathy with extrapyramidal signs,[] +"""GARD:0012980""",monoclonal mast cell activation syndrome,['monoclonal mcad'] +"""GARD:0012983""",hereditary folate malabsorption,['congenital folate malabsorption'] +"""GARD:0012986""",acyl-coa dehydrogenase 9 deficiency,['acad9 deficiency'] +"""GARD:0012987""",hereditary sensory and autonomic neuropathy type 6,"['familial dysautonomia with contractures', 'hsan6', 'hereditary sensory and autonomic neuropathy type vi']" +"""GARD:0012991""",aquagenic palmoplantar keratoderma,"['aquagenic keratoderma', 'aquagenic syringeal acrokeratoderma', 'aquagenic wrinkling of the palms', 'transient reactive papulotranslucent acrokeratoderma']" +"""GARD:0013003""",lupus erythematosus tumidus,['intermittent cutaneous lupus'] +"""GARD:0013004""",hepatic veno-occlusive disease,['sinusoidal obstruction syndrome'] +"""GARD:0013007""",hemoglobin m disease,['m hemoglobinopathy'] +"""GARD:0013011""",anti-neutrophil cytoplasmic antibody-associated vasculitis,"['aav', 'anca-associated vasculitis', 'antineutrophil cytoplasmic antibody-associated vasculitis']" +"""GARD:0013015""",obesity due to congenital leptin deficiency,[] +"""GARD:0013016""",immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,"['il10-related early-onset ibd', 'il10-related early-onset inflammatory bowel disease']" +"""GARD:0013019""",mitochondrial short-chain enoyl-coa hydratase 1 deficiency,[] +"""GARD:0013020""",microcystic lymphatic malformation,"['capillary lymphangioma', 'capillary lymphatic malformation', 'cutaneous lymphangioma circumscriptum', 'microcystic infiltrating lymphatic malformation', 'microcystic lymphangioma', 'superficial lymphangioma', 'superficial lymphatic malformation']" +"""GARD:0013025""",woolly hair nevus,['wooly hair nevus'] +"""GARD:0013030""",deafness-lymphedema-leukemia syndrome,"['emberger syndrome', 'hearing loss-lymphedema-leukemia syndrome']" +"""GARD:0013032""",cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation,[] +"""GARD:0013034""",neuroendocrine tumor of pancreas,"['pnet', 'pancreatic net', 'pancreatic neuroendocrine tumor', 'well-differentiated nen of pancreas', 'well-differentiated neuroendocrine neoplasm of pancreas', 'well-differentiated pancreatic nen', 'well-differentiated pancreatic neuroendocrine neoplasm']" +"""GARD:0013040""",necrobiosis lipoidica,['oppenheim-urbach disease'] +"""GARD:0013041""","thrombophilia due to protein c deficiency, autosomal recessive","['protein c deficiency; autosomal recessive', 'proc deficiency; autosomal recessive']" +"""GARD:0013043""",intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome,['pacs1-related syndrome'] +"""GARD:0013046""",giant cell tumor of bone,"['gct of bone', 'osteoclastoma']" +"""GARD:0013047""",germ cell tumor of testis,['testicular germ cell tumor'] +"""GARD:0013056""",congenital analbuminemia,[] +"""GARD:0013058""",autosomal dominant multiple pterygium syndrome,['distal arthrogryposis type 8'] +"""GARD:0013059""",distal arthrogryposis type 5d,"['da5d', 'distal arthrogryposis type 5 without ophthalmoparesis', 'distal arthrogryposis type 5 without ophthalmoplegia']" +"""GARD:0013060""",kcnq2-related epileptic encephalopathy,"['kcnq2-nee', 'kcnq2-related neonatal epileptic encephalopathy']" +"""GARD:0013063""",bockenheimer syndrome,['genuine diffuse phlebectasia'] +"""GARD:0013070""",lewis-sumner syndrome,"['madsam', 'multifocal acquired demyelinating sensory and motor neuropathy']" +"""GARD:0013072""",primary hypomagnesemia with secondary hypocalcemia,"['homg1', 'hsh', 'hypomagnesemia caused by selective magnesium malabsorption', 'hypomagnesemia intestinal type 1', 'intestinal hypomagnesemia with secondary hypocalcemia', 'phsh']" +"""GARD:0013073""",nevus comedonicus syndrome,[] +"""GARD:0013075""",diffuse intrinsic pontine glioma,['dipg'] +"""GARD:0013085""",developmental and epileptic encephalopathy 13,['epileptic encephalopathy; early infantile; 13'] +"""GARD:0013101""",corticosteroid-binding globulin deficiency,['transcortin deficiency'] +"""GARD:0013105""",dent disease,"['dent syndrome', 'low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis', 'renal fanconi syndrome with nephrocalcinosis and renal stones', 'x-linked recessive hypercalciuric hypophosphatemic rickets', 'x-linked recessive nephrolithiasis']" +"""GARD:0013108""",mirage syndrome,"['myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome', 'myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome']" +"""GARD:0013110""",progressive encephalomyelitis with rigidity and myoclonus,['perm'] +"""GARD:0013111""",ataxia-oculomotor apraxia type 4,['aoa4'] +"""GARD:0013112""",ataxia-oculomotor apraxia 3,[] +"""GARD:0013113""",infantile liver failure syndrome 2,[] +"""GARD:0013114""",acute infantile liver failure-multisystemic involvement syndrome,[] +"""GARD:0013124""",chronic thromboembolic pulmonary hypertension,['cteph'] +"""GARD:0013125""",cidec-related familial partial lipodystrophy,"['cidec-related fpld', 'fpld5']" +"""GARD:0013126""",lipe-related familial partial lipodystrophy,"['fpld6', 'lipe-related fpld']" +"""GARD:0013136""","intellectual developmental disorder, autosomal dominant 30",['mental retardation; autosomal dominant 30'] +"""GARD:0013137""","methylmalonic acidemia with homocystinuria, type cblx","['combined defect in adenosylcobalamin and methylcobalamin synthesis; type cblx', 'methylmalonic aciduria with homocystinuria; type cblx']" +"""GARD:0013142""",acute flaccid myelitis,[] +"""GARD:0013154""",tibial muscular dystrophy,"['distal myopathy; udd type', 'distal titinopathy', 'finnish tibial muscular dystrophy', 'tmd', 'udd myopathy']" +"""GARD:0013155""",early-onset lamellar cataract,[] +"""GARD:0013156""",oligodendroglial tumor,[] +"""GARD:0013157""",hereditary papillary renal cell carcinoma,['hprcc'] +"""GARD:0013158""",staphylococcal scalded skin syndrome,"['generalized exfoliative disease', 'ssss']" +"""GARD:0013160""",rhizomelic chondrodysplasia punctata,['rcdp'] +"""GARD:0013163""",methylmalonic acidemia without homocystinuria,['methylmalonic aciduria without homocystinuria'] +"""GARD:0013167""",familial isolated trichomegaly,[] +"""GARD:0013168""",corticobasal syndrome,[] +"""GARD:0013169""",chst3-related skeletal dysplasia,"['chondrodysplasia with congenital joint dislocations; chst3 type', 'sdcd; chst3 type', 'spondyloepiphyseal dysplasia with congenital joint dyslocations; chst3 type']" +"""GARD:0013171""",autosomal recessive brachyolmia,['brachyolmia; hobaek/toledo type'] +"""GARD:0013173""",polyneuropathy associated with igm monoclonal gammapathy with anti-mag,"['anti-mag neuropathy', 'neuropathy associated with monoclonal igm antibodies to myelin-associated glycoprotein']" +"""GARD:0013174""","progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1",['progressive external ophthalmoplegia; autosomal dominant 1'] +"""GARD:0013175""",renal medullary carcinoma,[] +"""GARD:0013177""",s-adenosylhomocysteine hydrolase deficiency,[] +"""GARD:0013179""","intellectual developmental disorder, autosomal dominant 43",[] +"""GARD:0013186""",xanthoma disseminatum,['montgomery syndrome'] +"""GARD:0013197""",developmental and epileptic encephalopathy 94,['epileptic encephalopathy; childhood-onset'] +"""GARD:0013198""",infantile-onset periodic fever-panniculitis-dermatosis syndrome,"['oras', 'otulin deficiency', 'otulin-related autoinflammatory syndrome', 'otulipenia']" +"""GARD:0013199""",cystic leukoencephalopathy without megalencephaly,['clwm'] +"""GARD:0013200""","mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy",['mtdna depletion syndrome; encephalomyopathic form with renal tubulopathy'] +"""GARD:0013201""",hyperammonemic encephalopathy due to carbonic anhydrase va deficiency,['ca-va deficiency'] +"""GARD:0013202""",neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency,"['hibch deficiency', 'methacrylic aciduria', 'valine metabolic defect']" +"""GARD:0013206""",2q32q33 microdeletion syndrome,"['del(2)(q32)', 'del(2)(q32q33)', 'monosomy 2q32', 'monosomy 2q32q33']" +"""GARD:0013209""",pituitary stalk interruption syndrome,"['ectopic neurohypophysis', 'psis']" +"""GARD:0013215""",renal cell carcinoma,['rcc'] +"""GARD:0013218""",hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,['poiktmp syndrome'] +"""GARD:0013219""",bap1-related tumor predisposition syndrome,['tumor susceptibility linked to germline bap1 mutations'] +"""GARD:0013221""",severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,['iqsec2-related syndromic intellectual disability'] +"""GARD:0013222""",bicd2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,"['bicd2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures', 'smaled2']" +"""GARD:0013232""",familial acute necrotizing encephalopathy,"['adane', 'recurrent acute necrotizing encephalopathy']" +"""GARD:0013235""","microphthalmia, syndromic 12",['microphthalmia with or without pulmonary hypoplasia; diaphragmatic hernia; and/or cardiac defects'] +"""GARD:0013237""",marginal zone lymphoma,[] +"""GARD:0013244""","x-linked intellectual disability, cabezas type",['cabezas syndrome'] +"""GARD:0013256""",igg4-related pachymeningitis,['idiopathic hypertrophic pachymeningitis'] +"""GARD:0013259""",bainbridge-ropers syndrome,['severe feeding difficulties-failure to thrive-microcephaly due to asxl3 deficiency syndrome'] +"""GARD:0013264""",infantile cerebellar-retinal degeneration,[] +"""GARD:0013273""","phosphoserine aminotransferase deficiency, infantile/juvenile form",['psat deficiency; infantile/juvenile form'] +"""GARD:0013293""",bleeding diathesis due to glycoprotein vi deficiency,[] +"""GARD:0013295""",familial focal epilepsy with variable foci,"['ffevf', 'familial partial epilepsy with variable foci']" +"""GARD:0013296""",17q12 microduplication syndrome,"['dup(17)(q12)', 'trisomy 17q12']" +"""GARD:0013297""",17q12 microdeletion syndrome,"['del(17)(q12)', 'monosomy 17q12']" +"""GARD:0013298""","mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies",['mtdna depletion syndrome; encephalomyopathic form with variable craniofacial anomalies'] +"""GARD:0013316""",magel2-related prader-willi-like syndrome,"['magel2-related pwls', 'schaaf-yang syndrome']" +"""GARD:0013318""",developmental and epileptic encephalopathy 12,['epileptic encephalopathy; early infantile; 12'] +"""GARD:0013319""",fatty acyl-coa reductase 1 deficiency,"['far1 deficiency', 'pfcrd', 'peroxisomal fatty acyl-coa reductase 1 disorder']" +"""GARD:0013320""",rhizomelic chondrodysplasia punctata type 5,[] +"""GARD:0013331""",familial reactive perforating collagenosis,[] +"""GARD:0013337""",idiopathic interstitial pneumonia,[] +"""GARD:0013339""",benta disease,['b-cell expansion with nf-kb and t-cell anergy disease'] +"""GARD:0013349""",postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,['culler-jones syndrome'] +"""GARD:0013354""",morning glory disc anomaly,"['ectasic coloboma', 'morning glory syndrome']" +"""GARD:0013371""",magic syndrome,['mouth and genital ulcers-inflamed cartilage syndrome'] +"""GARD:0013376""","epiphyseal dysplasia, multiple, 6",[] +"""GARD:0013378""",developmental and epileptic encephalopathy 17,['epileptic encephalopathy; early infantile; 17'] +"""GARD:0013379""","intellectual developmental disorder, autosomal dominant 29",['mental retardation; autosomal dominant 29'] +"""GARD:0013388""",congenital generalized lipodystrophy,"['bscl', 'berardinelli-seip congenital lipodystrophy', 'berardinelli-seip syndrome', 'cgl', 'lipoatrophic diabetes']" +"""GARD:0013389""","lipodystrophy, congenital generalized, type 3","['lipodystrophy; berardinelli-seip congenital; type 3', 'berardinelli-seip congenital lipodystrophy; type 3']" +"""GARD:0013390""",12q14 microdeletion syndrome,"['del(12)(q14)', 'deletion 12q14', 'monosomy 12q14', 'osteopoikilosis-short stature-intellectual disability syndrome']" +"""GARD:0013391""",2p15p16.1 microdeletion syndrome,"['del(2)(p15p16.1)', 'monosomy 2p15p16.1']" +"""GARD:0013409""",ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,['xia-gibbs syndrome'] +"""GARD:0013418""",neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,[] +"""GARD:0013423""",recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,['tango2-related metabolic encephalopathy-arrhythmia syndrome'] +"""GARD:0013425""",spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,"['asct1 deficiency', 'spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome']" +"""GARD:0013431""",temple syndrome,[] +"""GARD:0013446""",plasmacytoma,['solitary plasmacytoma'] +"""GARD:0013447""",pens syndrome,['papular epidermal nevi with skyline basal cell layers syndrome'] +"""GARD:0013451""",kaposiform lymphangiomatosis,[] +"""GARD:0013461""",ren-related autosomal dominant tubulointerstitial kidney disease,"['adtkd-ren', 'fjhn type 2', 'familial juvenile hyperuricemic nephropathy type 2', 'ren-associated fjhn', 'ren-associated familial juvenile hyperuricemic nephropathy', 'ren-associated kidney disease']" +"""GARD:0013472""",fth1-related iron overload,['fth1-associated iron overload'] +"""GARD:0013474""",intellectual disability-epilepsy-extrapyramidal syndrome,[] +"""GARD:0013488""",mepan syndrome,"['autosomal recessive childhood-onset dystonia; dyt29 type', 'childhood-onset generalized dystonia-optic atrophy syndrome', 'dyt29', 'dystonia 29', 'mitochondrial enoyl coa reductase protein-associated neurodegeneration syndrome']" +"""GARD:0013489""",brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome,"['zttk syndrome', 'zhu-tokita-takenouchi-kim syndrome']" +"""GARD:0013519""",dync1h1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,"['dync1h1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy', 'smaled1']" +"""GARD:0013524""","intellectual developmental disorder, autosomal dominant 56",['mental retardation; autosomal dominant 56'] +"""GARD:0013527""",dyrk1a-related intellectual disability syndrome,['dyrk1a syndrome'] +"""GARD:0013539""","neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features","['intellectual developmental disorder; autosomal dominant 40; formerly', 'mental retardation; autosomal dominant 40; formerly']" +"""GARD:0013565""",combined immunodeficiency due to lrba deficiency,['cid due to lrba deficiency'] +"""GARD:0013568""",hereditary sensory and autonomic neuropathy due to tecpr2 mutation,"['autosomal recessive spastic paraplegia type 49', 'hsan due to tecpr2 mutation', 'spg49']" +"""GARD:0013571""",childhood encephalopathy due to thiamine pyrophosphokinase deficiency,[] +"""GARD:0013587""",combined immunodeficiency with granulomatosis,"['cid due to rag 1/2 deficiency', 'combined immunodeficiency due to rag 1/2 deficiency']" +"""GARD:0013588""",pontiac fever,[] +"""GARD:0013591""",postural orthostatic tachycardia syndrome due to net deficiency,"['familial orthostatic tachycardia due to norepinephrine transporter deficiency', 'orthostatic intolerance due to net deficiency', 'pots due to net deficiency']" +"""GARD:0013592""",severe congenital neutropenia,[] +"""GARD:0013593""",rosette-forming glioneuronal tumor,['rgnt'] +"""GARD:0013594""",brain dopamine-serotonin vesicular transport disease,[] +"""GARD:0013606""",subcorneal pustular dermatosis,"['pustulosis subcornealis', 'sneddon-wilkinson disease', 'subcorneal pustular dermatitis']" +"""GARD:0013613""",pneumonia caused by pseudomonas aeruginosa infection,[] +"""GARD:0013621""",cad-cdg,"['cdg syndrome type iz', 'cdg-iz', 'cdg1z', 'carbohydrate deficient glycoprotein syndrome type iz', 'congenital disorder of glycosylation type 1z']" +"""GARD:0013629""",drug reaction with eosinophilia and systemic symptoms,"['dress syndrome', 'drug rash with eosinophilia and systemic symptoms']" +"""GARD:0013636""",macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,"['minds syndrome', 'smith-kingsmore syndrome']" +"""GARD:0013638""",x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,['x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females'] +"""GARD:0013639""",classic galactosemia,"['galt deficiency', 'galactose-1-phosphate uridyltransferase deficiency', 'galactosemia type 1']" +"""GARD:0013641""",familial cerebral cavernous malformation,"['familial brain cavernous angioma', 'familial cerebral cavernoma', 'hereditary brain cavernous angioma', 'hereditary cerebral cavernoma', 'hereditary cerebral cavernous malformation']" +"""GARD:0013643""",mitochondrial dna depletion syndrome,['mtdna depletion syndrome'] +"""GARD:0013644""","mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency",[] +"""GARD:0013655""",orofaciodigital syndrome type 14,"['microcephaly-cerebral malformation-orofaciodigital syndrome', 'ofd14', 'oral-facial-digital syndrome type 14']" +"""GARD:0013658""",childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,[] +"""GARD:0013661""",classic multiminicore myopathy,"['classic mmd', 'classic multiminicore disease']" +"""GARD:0013663""",familial sick sinus syndrome,[] +"""GARD:0013676""",developmental and epileptic encephalopathy 18,['epileptic encephalopathy; early infantile; 18'] +"""GARD:0013686""","neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant",['mental retardation; autosomal dominant 8; formerly'] +"""GARD:0013701""",primary cutaneous follicle center lymphoma,['pcfcl'] +"""GARD:0013708""",warsaw breakage syndrome,['wabs'] +"""GARD:0013712""",combined immunodeficiency due to partial rag1 deficiency,"['cid due to partial rag1 deficiency', 'cid with expansion of gamma delta t cells', 'combined immunodeficiency with expansion of gamma delta t cells']" +"""GARD:0013731""",t-cell prolymphocytic leukemia,"['t-pll', 't-cell chronic lymphocytic leukemia']" +"""GARD:0013737""","spastic paraplegia 51, autosomal recessive",['cerebral palsy; spastic quadriplegic; 4; formerly'] +"""GARD:0013743""","multicentric osteolysis, nodulosis, and arthropathy","['nao syndrome', 'al-aqeel sewairi syndrome', 'osteolysis; hereditary multicentric', 'nodulosis-arthropathy-osteolysis syndrome', 'torg syndrome', 'torg-winchester syndrome; formerly']" +"""GARD:0013774""",white-sutton syndrome,['intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome'] +"""GARD:0013781""",aica-ribosiduria,"['5-amino-4-imidazole carboxamide ribosiduria', 'aica-ribosiduria due to atic deficiency', 'aicar transformylase/imp cyclohydrolase deficiency', 'atic deficiency']" +"""GARD:0013789""",luscan-lumish syndrome,['setd2-related overgrowth syndrome'] +"""GARD:0013806""",chd3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome,['snijders blok-campeau syndrome'] +"""GARD:0013809""",fundus albipunctatus,[] +"""GARD:0013811""",malan overgrowth syndrome,['sotos syndrome 2'] +"""GARD:0013818""",familial steroid-resistant nephrotic syndrome with adrenal insufficiency,['primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency'] +"""GARD:0013824""",proteasome-associated autoinflammatory syndrome,"['aldd syndrome', 'autoinflammation-lipodystrophy-dermatosis syndrome', 'praas', 'proteasome disability syndrome']" +"""GARD:0015000""",lig4 syndrome,"['dna ligase iv deficiency', 'ligase 4 syndrome']" +"""GARD:0015001""",vexas syndrome,[] +"""GARD:0015002""",autoinflammation with episodic fever and lymphadenopathy,['cleavage-resistant ripk1-induced autoinflammatory cria\xa0syndrome'] +"""GARD:0015003""",complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,"['cd55 deficiency', 'chaple syndrome']" +"""GARD:0015004""",fadd-related immunodeficiency,[] +"""GARD:0015005""",pacak-zhuang syndrome,[] +"""GARD:0015006""",stat5 haploinsuffciency,[] +"""GARD:0015007""",warburg-cinotti syndrome,[] +"""GARD:0015008""",okur-chung neurodevelopmental syndrome (ocnds),[] +"""GARD:0015010""",hereditary breast and ovarian cancer syndrome,[] +"""GARD:0015011""","hypophosphatemic rickets, x-linked recessive",[] +"""GARD:0015012""",autosomal recessive malignant osteopetrosis,['infantile malignant osteopetrosis'] +"""GARD:0015013""",craniometaphyseal dysplasia,[] +"""GARD:0015014""",solitary fibrous tumor/hemangiopericytoma,['sft/hpc'] +"""GARD:0015015""",achromatopsia,"['achm', 'complete or incomplete color blindness', 'pingelapese blindness', 'rod monochromacy', 'rod monochromatism', 'total color blindness']" +"""GARD:0015016""",striate palmoplantar keratoderma,"['keratosis palmoplantaris striata', 'keratosis palmoplantaris striata et areata', 'keratosis palmoplantaris varians of wachters']" +"""GARD:0015017""",trichorhinophalangeal syndrome type 1 and 3,[] +"""GARD:0015018""",interatrial communication,"['asd', 'atrial septal defect', 'interauricular communication']" +"""GARD:0015019""",fibronectin glomerulopathy,"['gfnd', 'glomerulopathy with fibronectin deposits']" +"""GARD:0015020""",non-acquired panhypopituitarism,['genetic panhypopituitarism'] +"""GARD:0015021""",angioma serpiginosum,[] +"""GARD:0015022""",postsynaptic congenital myasthenic syndromes,[] +"""GARD:0015023""",presynaptic congenital myasthenic syndromes,[] +"""GARD:0015024""",multiple epiphyseal dysplasia due to collagen 9 anomaly,[] +"""GARD:0015025""",immunodeficiency due to a classical component pathway complement deficiency,"['immunodeficiency due to c1; c4; or c2 component complement deficiency', 'immunodeficiency due to an early component of complement deficiency']" +"""GARD:0015026""",hermansky-pudlak syndrome due to ap-3 deficiency,['hermansky-pudlak syndrome with neutropenia'] +"""GARD:0015027""",pulmonary capillary hemangiomatosis,[] +"""GARD:0015028""",non-specific early-onset epileptic encephalopathy,"['non-specific eoee', 'undetermined eoee', 'undetermined early-onset epileptic encephalopathy']" +"""GARD:0015029""","aarskog syndrome, autosomal dominant",[] +"""GARD:0015030""",acrodysostosis 1 with or without hormone resistance,['adohr'] +"""GARD:0015031""",acroosteolysis,[] +"""GARD:0015032""",spermatogenic failure 6,"['acrosome malformation of spermatozoa', 'round-headed spermatozoa', 'spermatozoa; round-headed', 'globozoospermia']" +"""GARD:0015033""","adrenocortical hypofunction, chronic primary congenital",['addison disease; congenital'] +"""GARD:0015034""","allergic bronchopulmonary aspergillosis, familial",[] +"""GARD:0015035""",alopecia areata 1,[] +"""GARD:0015036""",alternating hemiplegia of childhood 1,[] +"""GARD:0015037""","amelogenesis imperfecta, type ib","['enamel hypoplasia; hereditary localized', 'amelogenesis imperfecta; hypoplastic local; autosomal dominant', 'aih2']" +"""GARD:0015038""","amelogenesis imperfecta, type ia",['amelogenesis imperfecta; hypoplastic type ia'] +"""GARD:0015039""",diamond-blackfan anemia 1,"['aase syndrome', 'dba', 'red cell aplasia; pure; hereditary', 'blackfan-diamond syndrome', 'aregenerative anemia; chronic congenital', 'erythrogenesis imperfecta', 'aase-smith syndrome ii', 'anemia; congenital hypoplastic; of blackfan and diamond', 'anemia; congenital erythroid hypoplastic']" +"""GARD:0015040""","nail disorder, nonsyndromic congenital, 6","['anonychia/hyponychia and onychodystrophy', 'anonychia; partial']" +"""GARD:0015041""",spermatogenic failure 2,['aspermiogenesis factor'] +"""GARD:0015042""","leukemia, chronic lymphocytic, susceptibility to, 2",[] +"""GARD:0015043""","biliary cirrhosis, primary, 1",[] +"""GARD:0015044""","bifid nose, autosomal dominant",[] +"""GARD:0015045""","breasts and/or nipples, aplasia or hypoplasia of, 1","['amastia', 'athelia', 'amazia']" +"""GARD:0015046""",cataract 7,[] +"""GARD:0015047""","cataract 1, multiple types","['cataract; zonular pulverulent; 1', 'cataract 1; multiple types; with or without microcornea', 'cataract; duffy-linked']" +"""GARD:0015048""",sotos syndrome,"['chromosome 5q35 deletion syndrome', 'cerebral gigantism', 'sotos syndrome 1; formerly']" +"""GARD:0015049""","klippel-feil syndrome 1, autosomal dominant","['cervical vertebral fusion; autosomal dominant', 'kfs']" +"""GARD:0015050""",split-hand/foot malformation with long bone deficiency 1,[] +"""GARD:0015051""",familial cold autoinflammatory syndrome 1,"['fcas', 'cold-induced autoinflammatory syndrome; familial', 'cryopyrin-associated periodic syndrome 1', 'cold urticaria; familial', 'cold hypersensitivity']" +"""GARD:0015052""",lynch syndrome i,"['coca1', 'colorectal cancer; hereditary nonpolyposis; type 1', 'colon cancer; familial nonpolyposis; type 1']" +"""GARD:0015053""",branchiootic syndrome 2,[] +"""GARD:0015054""","seizures, benign familial neonatal, 2",['convulsions; benign familial neonatal; 2'] +"""GARD:0015055""","cutis laxa, autosomal dominant 1",[] +"""GARD:0015056""","mitochondrial complex iii deficiency, nuclear type 1",[] +"""GARD:0015057""","optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",['dominant optic atrophy plus syndrome'] +"""GARD:0015058""","diabetes insipidus, nephrogenic, 2, autosomal",['diabetes insipidus; nephrogenic; type ii'] +"""GARD:0015059""",digitotalar dysmorphism,['ulnar drift; hereditary'] +"""GARD:0015060""",basal laminar drusen,"['drusen of bruch membrane', 'drusen; cuticular', 'drusen; early adult-onset; grouped']" +"""GARD:0015061""","dystonia 1, torsion, autosomal dominant","['dystonia musculorum deformans 1', 'early-onset torsion dystonia']" +"""GARD:0015062""","ectopia lentis 1, isolated, autosomal dominant",[] +"""GARD:0015063""","ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1",[] +"""GARD:0015064""",elliptocytosis 2,['elliptocytosis; rhesus-unlinked type'] +"""GARD:0015065""",photoparoxysmal response 1,[] +"""GARD:0015066""","erythroleukemia, familial, susceptibility to","['leukemia; acute myelogenous; m6', 'di guglielmo disease; familial']" +"""GARD:0015067""",cockayne syndrome b,[] +"""GARD:0015068""",exudative vitreoretinopathy 1,"['fevr; autosomal dominant', 'exudative vitreoretinopathy; familial; autosomal dominant', 'criswick-schepens syndrome']" +"""GARD:0015069""","familial mediterranean fever, autosomal dominant",['fmf; autosomal dominant'] +"""GARD:0015070""","desmoid disease, hereditary",['fibromatosis; familial infiltrative'] +"""GARD:0015071""",zimmermann-laband syndrome 1,"['laband syndrome', 'fibromatosis; gingival; with abnormal fingers; fingernails; nose; and ears; and splenomegaly']" +"""GARD:0015072""",coffin-siris syndrome 1,"['mental retardation; autosomal dominant 12', 'fifth digit syndrome', 'hypertrichosis; hyperkeratosis; mental retardation; and distinctive facial features']" +"""GARD:0015076""","hirschsprung disease, susceptibility to, 1","['aganglionic megacolon', 'megacolon; aganglionic']" +"""GARD:0015077""","hyperlipidemia, familial combined, 3",['familial combined hyperlipidemia'] +"""GARD:0015078""",hypotrichosis 4,"['marie unna hereditary hypotrichosis 1', 'hypotrichosis; marie unna type; 1']" +"""GARD:0015079""","cholestasis, intrahepatic, of pregnancy, 1",['cholestasis; pregnancy-related; 1'] +"""GARD:0015080""","kaposi sarcoma, susceptibility to",['multiple idiopathic pigmented hemangiosarcoma; susceptibility to'] +"""GARD:0015081""","palmoplantar keratoderma, punctate type ia","['keratodermia palmoplantaris papulosa; buschke-fischer-brauer type', 'kppp1', 'palmoplantar keratoderma; punctate type i', 'keratosis palmoplantaris papulosa']" +"""GARD:0015082""","bernard-soulier syndrome, type a2, autosomal dominant",[] +"""GARD:0015083""","46,xy sex reversal 4",[] +"""GARD:0015086""",mirror movements 1,"['mirror movements; congenital', 'bimanual synergia', 'mirror movements 1 and/or agenesis of the corpus callosum']" +"""GARD:0015087""",facioscapulohumeral muscular dystrophy 1,[] +"""GARD:0015088""","facioscapulohumeral muscular dystrophy 2, digenic","['muscular dystrophy; facioscapulohumeral; type 2', 'muscular dystrophy; facioscapulohumeral; type 1b', 'fshd2; digenic']" +"""GARD:0015089""","muscular dystrophy, pseudohypertrophic, with internalized capillaries",[] +"""GARD:0015090""","carney complex, type 1","['carney syndrome', 'carney myxoma-endocrine complex', 'lamb syndrome', 'myxoma; spotty pigmentation; and endocrine overactivity', 'name syndrome']" +"""GARD:0015091""",narcolepsy 1,['narcoleptic syndrome 1'] +"""GARD:0015092""","nasopharyngeal carcinoma, susceptibility to, 2",[] +"""GARD:0015093""","candidiasis, familial, 6",['candidiasis; familial chronic mucocutaneous; autosomal dominant'] +"""GARD:0015094""","neurofibromatosis, type iii, mixed central and peripheral","['nf iii', 'neurofibromatosis; type iii; of riccardi', 'neurofibromas; palmar cutaneous; included', 'neurofibromatosis; type iii; riccardi type']" +"""GARD:0015095""","neuropathy, hereditary sensory and autonomic, type ia","['neuropathy; hereditary sensory radicular; autosomal dominant; type 1a', 'neuropathy; hereditary sensory; type ia', 'hsn ia', 'hsan1', 'hsan ia']" +"""GARD:0015096""","night blindness, congenital stationary, autosomal dominant 2",['night blindness; congenital stationary; rambusch type'] +"""GARD:0015097""",oculopharyngodistal myopathy 1,['faciooculolaryngopharyngeal myopathy with distal and respiratory involvement'] +"""GARD:0015098""",optic atrophy with demyelinating disease of cns,[] +"""GARD:0015099""",optic atrophy 1,"['optic atrophy; juvenile', 'optic atrophy; kjer type', 'kjer-type optic atrophy']" +"""GARD:0015100""","osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures",[] +"""GARD:0015101""","hypertrophic osteoarthropathy, primary, autosomal dominant","['pho; autosomal dominant', 'pdp; autosomal dominant', 'pachydermoperiostosis; autosomal dominant']" +"""GARD:0015102""",pachyonychia congenita 1,"['pachyonychia congenita; jadassohn-lewandowsky type; formerly', 'jadassohn-lewandowsky syndrome; formerly']" +"""GARD:0015103""",pachyonychia congenita 2,['pachyonychia congenita; jackson-lawler type; formerly'] +"""GARD:0015104""","pancreas, dorsal, agenesis of",[] +"""GARD:0015105""",pheochromocytoma,['pheochromocytoma; susceptibility to'] +"""GARD:0015106""",gist-plus syndrome,['polyps; multiple and recurrent inflammatory fibroid; gastrointestinal; formerly'] +"""GARD:0015107""",brain small vessel disease 1 with or without ocular anomalies,"['hemiplegia; infantile; with porencephaly', 'leukoencephalopathy with axenfeld-rieger anomaly', 'porencephaly; type 1; autosomal dominant; formerly', 'porencephaly 1; formerly', 'porencephaly; type 1; formerly', 'brain small vessel disease with hemorrhage', 'brain small vessel disease with axenfeld-rieger anomaly', 'retinal arteriolar tortuosity; infantile hemiparesis; and leukoencephalopathy; autosomal dominant']" +"""GARD:0015108""","porokeratosis 1, multiple types",[] +"""GARD:0015109""",retinal aplasia,['amaurosis congenita'] +"""GARD:0015110""",retinitis pigmentosa 10,[] +"""GARD:0015111""","retinopathy, pericentral pigmentary, dominant",[] +"""GARD:0015112""","schistosoma mansoni infection, susceptibility/resistance to",[] +"""GARD:0015113""",spinal arachnoiditis,[] +"""GARD:0015114""","spondyloepiphyseal dysplasia tarda, autosomal dominant",[] +"""GARD:0015115""",multiple synostoses syndrome 1,"['symphalangism-brachydactyly syndrome', 'deafness-symphalangism syndrome of herrmann', 'synostoses; multiple; with brachydactyly', 'wl syndrome', 'facioaudiosymphalangism syndrome']" +"""GARD:0015116""",thoracolaryngopelvic dysplasia,['barnes syndrome'] +"""GARD:0015117""","bleeding disorder, platelet-type, 17",['thrombasthenia-thrombocytopenia; hereditary'] +"""GARD:0015118""",digeorge syndrome,"['hypoplasia of thymus and parathyroids', 'chromosome 22q11.2 deletion syndrome', 'third and fourth pharyngeal pouch syndrome']" +"""GARD:0015119""","thyrotoxic periodic paralysis, susceptibility to, 1",[] +"""GARD:0015120""","blount disease, infantile","['tibia vara; infantile', 'osteochondrosis deformans tibiae; infantile']" +"""GARD:0015121""",tuberous sclerosis 1,['tuberose sclerosis'] +"""GARD:0015122""",uncombable hair syndrome 1,['pili trianguli et canaliculi'] +"""GARD:0015123""",velocardiofacial syndrome,"['chromosome 22q11.2 deletion syndrome', 'vcf syndrome', 'shprintzen vcf syndrome']" +"""GARD:0015124""",wilms tumor 1,[] +"""GARD:0015125""",wilms tumor 3,[] +"""GARD:0015126""",dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema,"['xerocytosis; hereditary', 'pseudohyperkalemia; familial; 1; due to red cell leak', 'desiccytosis; hereditary', 'pseudohyperkalemia edinburgh']" +"""GARD:0015127""",abetalipoproteinemia,"['acanthocytosis', 'mtp deficiency', 'bassen-kornzweig syndrome', 'microsomal triglyceride transfer protein deficiency']" +"""GARD:0015128""",carpenter syndrome 1,"['acrocephalopolysyndactyly type ii', 'acps ii']" +"""GARD:0015129""","neuropathy, hereditary sensory and autonomic, type iia","['acroosteolysis; giaccai type', 'neuropathy; hereditary sensory radicular; autosomal recessive', 'morvan disease', 'neuropathy; hereditary sensory; type iia', 'neuropathy; congenital sensory', 'acroosteolysis; neurogenic', 'hsn iia', 'hsan iia', 'neuropathy; progressive sensory; of children']" +"""GARD:0015130""","acrorenal syndrome, autosomal recessive",[] +"""GARD:0015131""","adrenal hypoplasia, cytomegalic type",[] +"""GARD:0015132""","adrenocortical carcinoma, hereditary",[] +"""GARD:0015133""",adrenocortical unresponsiveness to acth with postreceptor defect,['familial glucocorticoid deficiency due to defect distal to acth receptor'] +"""GARD:0015134""",peroxisome biogenesis disorder 2b,[] +"""GARD:0015135""",alopecia universalis congenita,['atrichia; generalized'] +"""GARD:0015136""","amelogenesis imperfecta, type ic","['amelogenesis imperfecta; hypoplastic; with or without open-bite malocclusion; autosomal recessive', 'amelogenesis imperfecta; local hypoplastic type; autosomal recessive']" +"""GARD:0015137""","amyotrophic lateral sclerosis 2, juvenile",['als; juvenile'] +"""GARD:0015138""",amyotrophic lateral sclerosis with polyglucosan bodies,[] +"""GARD:0015139""","arthrogryposis, renal dysfunction, and cholestasis 1",['arc syndrome'] +"""GARD:0015140""",short-rib thoracic dysplasia 1 with or without polydactyly,[] +"""GARD:0015141""",ataxia-telangiectasia with generalized skin pigmentation and early death,[] +"""GARD:0015142""","bifid nose, autosomal recessive","['nose; median cleft of', 'median fissure of nose']" +"""GARD:0015143""",seckel syndrome 1,"['bird-headed dwarfism', 'nanocephalic dwarfism', 'seckel-type dwarfism', 'microcephalic primordial dwarfism i', 'sckl']" +"""GARD:0015144""","microcephalic osteodysplastic primordial dwarfism, type i","['brachymelic primordial dwarfism', 'low-birth-weight dwarfism with skeletal dysplasia', 'taybi-linder syndrome', 'osteodysplastic primordial dwarfism; type i', 'cephaloskeletal dysplasia', 'mopd i']" +"""GARD:0015145""","microcephalic osteodysplastic primordial dwarfism, type iii","['mopd; sicilian fairy type', 'osteodysplastic primordial dwarfism; type iii', 'mopd; caroline crachami type', 'microcephalic osteodysplastic primordial dwarfism; caroline crachami type', 'microcephalic osteodysplastic primordial dwarfism; sicilian fairy type', 'mopd iii']" +"""GARD:0015146""","tumoral calcinosis, hyperphosphatemic, familial, 1","['tumoral calcinosis; hyperphosphatemic; familial', 'lipocalcinogranulomatosis', 'tumoral calcinosis; primary hyperphosphatemic', 'teutschlaender disease; familial', 'cortical hyperostosis with hyperphosphatemia', 'morbus teutschlaender', 'calcinosis; tumoral; with hyperphosphatemia', 'hyperostosis-hyperphosphatemia syndrome', 'hyperostosis with hyperphosphatemia']" +"""GARD:0015148""","cardiac lipidosis, familial",[] +"""GARD:0015149""",peroxisome biogenesis disorder 2a (zellweger),[] +"""GARD:0015150""",cerebrooculofacioskeletal syndrome 1,['pena-shokeir syndrome; type ii'] +"""GARD:0015151""","klippel-feil syndrome 2, autosomal recessive","['kfs; autosomal recessive', 'cervical vertebral fusion; autosomal recessive']" +"""GARD:0015152""","chorea, benign familial",[] +"""GARD:0015153""",coach syndrome 1,"['cerebellar vermis hypo/aplasia; oligophrenia; congenital ataxia; ocular coloboma; and hepatic fibrosis', 'coach syndrome', 'joubert syndrome with congenital hepatic fibrosis']" +"""GARD:0015154""",cockayne syndrome a,[] +"""GARD:0015155""",complement component c1r/c1s deficiency,['c1r/c1s deficiency'] +"""GARD:0015156""",craniodiaphyseal dysplasia,[] +"""GARD:0015157""","cutis laxa, autosomal recessive, type ia","['cutis laxa; autosomal recessive', 'arcl1']" +"""GARD:0015158""","mitochondrial complex iv deficiency, nuclear type 1","['mitochondrial complex iv deficiency', 'cytochrome c oxidase deficiency', 'cox deficiency']" +"""GARD:0015159""","mitochondrial complex iv deficiency, nuclear type 5","['cytochrome c oxidase deficiency; french canadian type', 'cox deficiency; french canadian type', 'cox deficiency; saguenay-lac-saint-jean type', 'leigh syndrome; french canadian type', 'leigh syndrome; saguenay-lac-saint-jean type']" +"""GARD:0015160""",ritscher-schinzel syndrome 1,"['dandy-walker-like malformation with atrioventricular septal defect', 'craniocerebellocardiac dysplasia']" +"""GARD:0015161""",diaphragmatic hernia 2,[] +"""GARD:0015162""",meier-gorlin syndrome 1,"['ear; patella; short stature syndrome', 'meier-gorlin syndrome', 'microtia; absent patellae; micrognathia syndrome']" +"""GARD:0015163""","ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive","['ectodermal dysplasia; hypohidrotic', 'ectodermal dysplasia; anhidrotic']" +"""GARD:0015164""",ectopia lentis et pupillae,['ectopia lentis with ectopia of pupil'] +"""GARD:0015165""","hypothyroidism, congenital, nongoitrous, 5",[] +"""GARD:0015166""",split-hand/foot malformation 6,['ectrodactyly; autosomal recessive'] +"""GARD:0015167""",aicardi-goutieres syndrome 1,"['encephalopathy; familial infantile; with intracranial calcification and chronic cerebrospinal fluid lymphocytosis', 'cree encephalitis', 'pseudotoxoplasmosis syndrome', 'ags']" +"""GARD:0015168""","fanconi anemia, complementation group c","['fanconi pancytopenia; type 3', 'facc']" +"""GARD:0015169""","fanconi anemia, complementation group d2","['fanconi anemia; complementation group d', 'fad2', 'fanconi pancytopenia; type 4']" +"""GARD:0015170""","fanconi anemia, complementation group a",[] +"""GARD:0015171""","fascial dystrophy, congenital",[] +"""GARD:0015172""",geleophysic dysplasia 1,[] +"""GARD:0015173""",glycogen storage disease ic,['gsd ic'] +"""GARD:0015174""","46,xy sex reversal 7","['46;xy gonadal dysgenesis; partial or complete; dhh-related', 'gonadal dysgenesis; xy; male-limited', '46;xy sex reversal; partial or complete; dhh-related']" +"""GARD:0015175""","granulomatous disease, chronic, autosomal recessive, 4","['cyba deficiency', 'cgd due to deficiency of the alpha subunit of cytochrome b', 'cgd; autosomal recessive cytochrome b-negative', 'granulomatous disease; chronic; autosomal recessive; cytochrome b-negative']" +"""GARD:0015176""","granulomatous disease, chronic, autosomal recessive, 1","['soluble oxidase component ii deficiency', 'granulomatous disease; chronic; autosomal recessive; cytochrome b-positive; type i', 'neutrophil cytosol factor 1 deficiency', 'granulomatous disease; chronic; due to ncf1 deficiency', 'cgd; autosomal recessive cytochrome b-positive; type i', 'ncf1 deficiency', 'soc2 deficiency', 'p47-phox deficiency']" +"""GARD:0015177""","granulomatous disease, chronic, autosomal recessive, 2","['granulomatous disease; chronic; autosomal recessive; cytochrome b-positive; type ii', 'ncf2 deficiency', 'granulomatous disease; chronic; due to ncf2 deficiency', 'neutrophil cytosol factor 2 deficiency', 'p67-phox deficiency', 'cgd; autosomal recessive cytochrome b-positive; type ii']" +"""GARD:0015179""",hemolytic anemia with thermal sensitivity of red cells,[] +"""GARD:0015180""","hemosiderosis, pulmonary, with deficiency of gamma-a globulin",[] +"""GARD:0015181""",hennekam lymphangiectasia-lymphedema syndrome 1,"['hennekam lymphangiectasia-lymphedema syndrome', 'lymphatic dysplasia; generalized']" +"""GARD:0015182""",hydrolethalus syndrome 1,[] +"""GARD:0015183""",hyperlysinemia due to defect in lysine transport into mitochondria,[] +"""GARD:0015184""","immunodeficiency, common variable, 2","['antibody deficiency due to taci defect', 'hypogammaglobulinemia due to taci deficiency']" +"""GARD:0015185""",immunodeficiency 43,"['hypoproteinemia; hypercatabolic', 'b2m deficiency', 'beta-2-microglobulin deficiency']" +"""GARD:0015186""","hypouricemia, hypercalcinuria, and decreased bone density",[] +"""GARD:0015187""","ichthyosis, congenital, autosomal recessive 2","['collodion baby; self-healing', 'ichthyosiform erythroderma; nonbullous congenital; 1; formerly', 'ichthyosiform erythroderma; brocq congenital; nonbullous form; formerly']" +"""GARD:0015188""",immunodeficiency-centromeric instability-facial anomalies syndrome 1,"['immune deficiency; variable; with centromeric instability of chromosomes 1; 9; and 16', 'centromeric instability; immunodeficiency syndrome', 'immunodeficiency syndrome; variable']" +"""GARD:0015189""",baraitser-winter syndrome 1,"['pachygyria; mental retardation; epilepsy; and characteristic facies', 'mental retardation with epilepsy and characteristic facies', 'fryns-aftimos syndrome', 'cerebrofrontofacial syndrome', 'chromosome 7p22 deletion syndrome', 'cerebrooculofacial lymphatic syndrome', 'iris coloboma with ptosis; hypertelorism; and mental retardation']" +"""GARD:0015190""","intrinsic factor and r binder, combined congenital deficiency of",[] +"""GARD:0015191""","kuru, susceptibility to",[] +"""GARD:0015192""","leprosy, susceptibility to, 3",[] +"""GARD:0015193""",split-hand/foot malformation 3,[] +"""GARD:0015194""",lymphokine deficiency,[] +"""GARD:0015195""",megacystis-microcolon-intestinal hypoperistalsis syndrome 1,['berdon syndrome'] +"""GARD:0015196""",methemoglobinemia and ambiguous genitalia,"['methemoglobinemia due to deficiency of cytochrome b5; formerly', 'isolated 17;20-lyase deficiency; pure', 'methemoglobinemia type iv; formerly']" +"""GARD:0015197""",methemoglobinemia due to deficiency of methemoglobin reductase,"['nadh-dependent methemoglobin reductase deficiency', 'methemoglobinemia; congenital; autosomal recessive', 'nadh-cytochrome b5 reductase deficiency']" +"""GARD:0015198""","microcephaly 1, primary, autosomal recessive","['premature chromosome condensation syndrome', 'pcc syndrome', 'premature chromosome condensation with microcephaly and mental retardation']" +"""GARD:0015199""",galloway-mowat syndrome 1,"['nephrosis-neuronal dysmigration syndrome', 'microcephaly; hiatal hernia; and nephrotic syndrome', 'nephrosis-microcephaly syndrome', 'galloway syndrome', 'cerebellar ataxia with mental retardation; optic atrophy; and skin abnormalities', 'spinocerebellar ataxia; autosomal recessive 5; formerly']" +"""GARD:0015200""","microphthalmia, isolated, with coloboma 4",['microphthalmia with colobomatous cyst'] +"""GARD:0015201""","mitochondrial complex i deficiency, nuclear type 1","['nadh:q(1) oxidoreductase deficiency', 'nadh-coenzyme q reductase deficiency', 'mitochondrial complex i deficiency', 'mitochondrial nadh dehydrogenase component of complex i; deficiency of']" +"""GARD:0015202""","mitochondrial complex ii deficiency, nuclear type 1","['succinate dehydrogenase deficiency', 'succinate coq reductase deficiency']" +"""GARD:0015203""",monocyte chemotactic disorder,[] +"""GARD:0015204""","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3",['walker-warburg syndrome or muscle-eye-brain disease; pomgnt1-related'] +"""GARD:0015205""","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4","['walker-warburg syndrome or muscle-eye-brain disease; fktn-related', 'fukuyama congenital muscular dystrophy']" +"""GARD:0015206""","myasthenic syndrome, congenital, 10","['cms ib; formerly', 'myasthenic myopathy; formerly', 'congenital myasthenic syndrome type ib; formerly', 'myasthenia; limb-girdle; familial; formerly']" +"""GARD:0015207""","myopathy, myosin storage, autosomal recessive",['myopathy; hyaline body; autosomal recessive'] +"""GARD:0015208""","myopathy, centronuclear, 2","['myopathy; centronuclear; autosomal recessive', 'myotubular myopathy; autosomal recessive']" +"""GARD:0015209""",nemaline myopathy 2,[] +"""GARD:0015210""","nephrotic syndrome, type 4",[] +"""GARD:0015211""","neuroblastoma, susceptibility to, 1",[] +"""GARD:0015212""","night blindness, congenital stationary, type 1b","['night blindness; congenital stationary; complete; autosomal recessive', 'csnb; complete; autosomal recessive']" +"""GARD:0015213""","oculodentodigital dysplasia, autosomal recessive","['odod; autosomal recessive', 'oculodentoosseous dysplasia; autosomal recessive', 'oddd; autosomal recessive']" +"""GARD:0015214""",spermatogenic failure 1,"['oligosynaptic infertility', 'oligochiasmatic infertility']" +"""GARD:0015215""","progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1",['progressive external ophthalmoplegia; autosomal recessive 1'] +"""GARD:0015216""","hypertrophic osteoarthropathy, primary, autosomal recessive, 1","['pdp; autosomal recessive', 'touraine-solente-gole syndrome', 'pho; autosomal recessive', 'pachydermoperiostosis; autosomal recessive']" +"""GARD:0015217""","blount disease, adolescent","['osteochondrosis deformans tibiae; adolescent', 'tibia vara; adolescent']" +"""GARD:0015218""","osteoporosis, juvenile",[] +"""GARD:0015219""","pachyonychia congenita, autosomal recessive",[] +"""GARD:0015220""",pancreatic agenesis 1,"['pagen', 'pancreatic hypoplasia; congenital']" +"""GARD:0015221""",shwachman-diamond syndrome 1,"['lipomatosis of pancreas; congenital', 'pancreatic insufficiency and bone marrow dysfunction', 'shwachman-bodian syndrome']" +"""GARD:0015222""","pituitary hormone deficiency, combined, 2","['panhypopituitarism', 'hanhart dwarfism', 'pituitary dwarfism iii', 'ateliotic dwarfism with hypogonadism']" +"""GARD:0015223""",gillessen-kaesbach-nishimura syndrome,['polycystic kidney disease; autosomal recessive; with microbrachycephaly; hypertelorism; and brachymelia'] +"""GARD:0015224""",short-rib thoracic dysplasia 6 with or without polydactyly,"['short rib-polydactyly syndrome; type iia', 'majewski syndrome', 'polydactyly with neonatal chondrodystrophy; type ii', 'short rib-polydactyly syndrome; type ii', 'srps; type ii']" +"""GARD:0015225""",prenatal bowing,[] +"""GARD:0015226""",peroxisome biogenesis disorder 3b,[] +"""GARD:0015227""",short-rib thoracic dysplasia 9 with or without polydactyly,"['renal dysplasia; retinal pigmentary dystrophy; cerebellar ataxia; and skeletal dysplasia', 'conorenal syndrome', 'mainzer-saldino syndrome']" +"""GARD:0015228""",renal tubular acidosis iii,"['rta; dislocation type', 'rta; bicarbonate-wasting type']" +"""GARD:0015229""","renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss","['rta with progressive nerve deafness', 'renal tubular acidosis with progressive nerve deafness', 'renal tubular acidosis; autosomal recessive; with progressive nerve deafness']" +"""GARD:0015230""","retinitis pigmentosa, late-adult onset","[""retinitis pigmentosa; 'senile'""]" +"""GARD:0015231""","retinopathy, pericentral pigmentary, autosomal recessive",['retinitis pigmentosa; pericentral'] +"""GARD:0015232""",rheumatic fever-related antigen,['rheumatic fever; acute; susceptibility to; included'] +"""GARD:0015233""",sclerosteosis 1,"['sost', 'cortical hyperostosis with syndactyly']" +"""GARD:0015234""","seizures, benign familial neonatal, autosomal recessive","['epilepsy; benign familial neonatal; autosomal recessive', 'convulsions; benign familial neonatal; autosomal recessive', 'bfns; autosomal recessive']" +"""GARD:0015235""",spermatogenic failure 4,"['azoospermia with maturation arrest', 'azoospermia due to perturbations of meiosis', 'spermatogenesis arrest']" +"""GARD:0015236""","spherocytosis, type 3",['spherocytosis; hereditary; 3'] +"""GARD:0015237""","spondyloepiphyseal dysplasia tarda, autosomal recessive",[] +"""GARD:0015238""",tetraamelia syndrome 1,['tetraamelia syndrome; autosomal recessive'] +"""GARD:0015239""",three m syndrome 1,"['le merrer syndrome', 'gloomy face syndrome', 'dolichospondylic dysplasia']" +"""GARD:0015240""",glanzmann thrombasthenia 1,"['thrombasthenia of glanzmann and naegeli', 'platelet glycoprotein iib-iiia deficiency', 'gp iib-iiia complex deficiency', 'bleeding disorder; platelet-type; 2', 'platelet fibrinogen receptor deficiency', 'glycoprotein complex iib-iiia deficiency']" +"""GARD:0015241""","usher syndrome, type iia",[] +"""GARD:0015242""","usher syndrome, type iiia",['usher syndrome; type iii'] +"""GARD:0015243""","vas deferens, congenital bilateral aplasia of",['cavd'] +"""GARD:0015244""","pontocerebellar hypoplasia, type 2a","['pch2', 'volendam neurodegenerative disease', 'pontocerebellar hypoplasia with progressive cerebral atrophy']" +"""GARD:0015245""","waardenburg syndrome, type 4a","['ws4', 'waardenburg syndrome; type iva', 'waardenburg syndrome with hirschsprung disease; type 4a', 'shah-waardenburg syndrome']" +"""GARD:0015246""",weill-marchesani syndrome 1,"['mesodermal dysmorphodystrophy; congenital', 'spherophakia-brachymorphia syndrome', 'weill-marchesani syndrome; autosomal recessive']" +"""GARD:0015247""",hypotrichosis 8,['hypotrichosis; localized; autosomal recessive 3'] +"""GARD:0015248""",myopathy due to myoadenylate deaminase deficiency,"['myoadenylate deaminase deficiency; myopathy due to', 'ampd1 deficiency', 'adenosine monophosphate deaminase-1 deficiency; myopathy due to']" +"""GARD:0015249""","46,xx sex reversal 2",[] +"""GARD:0015250""","ichthyosis, x-linked, without steroid sulfatase deficiency",[] +"""GARD:0015251""","night blindness, congenital stationary, type 2a","['night blindness; congenital stationary; type 2', 'csnb; incomplete; x-linked']" +"""GARD:0015253""","prostate cancer, hereditary, x-linked 1",[] +"""GARD:0015254""","intellectual developmental disorder, x-linked, syndromic, lubs type","['mental retardation; x-linked; with recurrent respiratory infections', 'lubs x-linked mental retardation syndrome', 'mecp2 duplication syndrome']" +"""GARD:0015255""",progressive familial intrahepatic cholestasis,['pfic'] +"""GARD:0015256""","polymicrogyria, bilateral perisylvian, x-linked",[] +"""GARD:0015257""","fanconi anemia, complementation group b","['facb', 'fanconi pancytopenia; type 2']" +"""GARD:0015258""","myopathy, congenital, with fiber-type disproportion, x-linked",[] +"""GARD:0015259""",cornelia de lange syndrome 2,"['cornelia de lange syndrome; x-linked', 'cdls; x-linked']" +"""GARD:0015260""","prostate cancer, hereditary, x-linked 2",[] +"""GARD:0015261""","reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset",[] +"""GARD:0015262""","reducing body myopathy, x-linked 1b, with late childhood or adult onset",[] +"""GARD:0015263""","surfactant metabolism dysfunction, pulmonary, 4","['csf2ra deficiency', 'pulmonary alveolar proteinosis; congenital; 4', 'pap due to csf2ra deficiency']" +"""GARD:0015264""","intellectual developmental disorder, x-linked, syndromic, raymond type",['mental retardation; x-linked; syndromic; raymond type'] +"""GARD:0015265""",joubert syndrome 10,[] +"""GARD:0015266""",chromosome xq28 duplication syndrome,[] +"""GARD:0015267""","46,xx sex reversal 3",[] +"""GARD:0015268""","macular degeneration, x-linked atrophic",[] +"""GARD:0015269""",amyotrophic lateral sclerosis 15 with or without frontotemporal dementia,[] +"""GARD:0015270""",kabuki syndrome 2,[] +"""GARD:0015271""",cornelia de lange syndrome 5,[] +"""GARD:0015272""",linear skin defects with multiple congenital anomalies 2,['aplasia cutis congenita; reticulolinear; with microcephaly; facial dysmorphism; and other congenital anomalies'] +"""GARD:0015273""","olmsted syndrome, x-linked",['palmoplantar keratoderma; mutilating; with periorificial keratotic plaques; x-linked'] +"""GARD:0015274""","pituitary adenoma 2, growth hormone-secreting","['acromegaly due to pituitary adenoma 2', 'acromegaly; x-linked']" +"""GARD:0015275""",diamond-blackfan anemia 14 with mandibulofacial dysostosis,[] +"""GARD:0015276""",linear skin defects with multiple congenital anomalies 3,['linear skin defects with cardiomyopathy and other congenital anomalies'] +"""GARD:0015277""","trichothiodystrophy 5, nonphotosensitive",[] +"""GARD:0015278""",ritscher-schinzel syndrome 2,[] +"""GARD:0015279""","vas deferens, congenital bilateral aplasia of, x-linked",[] +"""GARD:0015280""","ciliary dyskinesia, primary, 36, x-linked",['ciliary dyskinesia; primary; 36; with or without situs inversus'] +"""GARD:0015281""","galloway-mowat syndrome 2, x-linked",[] +"""GARD:0015282""","intellectual developmental disorder, x-linked, syndromic, houge type",['mental retardation; x-linked; syndromic; houge type'] +"""GARD:0015283""","mitochondrial complex i deficiency, nuclear type 12",[] +"""GARD:0015284""","mitochondrial complex i deficiency, nuclear type 30",[] +"""GARD:0015285""","nephrotic syndrome, type 20",[] +"""GARD:0015286""",developmental and epileptic encephalopathy 90,[] +"""GARD:0015287""","cardiomyopathy, dilated, 3b",['cardiomyopathy; dilated; x-linked'] +"""GARD:0015289""","diabetes insipidus, nephrogenic, 1, x-linked","['ndi', 'diabetes insipidus; nephrogenic; type i']" +"""GARD:0015290""","dyggve-melchior-clausen syndrome, x-linked",[] +"""GARD:0015291""","epidermodysplasia verruciformis, x-linked",[] +"""GARD:0015292""","exudative vitreoretinopathy 2, x-linked","['exudative vitreoretinopathy; familial; 2', 'evrx', 'fevr; x-linked']" +"""GARD:0015293""",frontometaphyseal dysplasia 1,['fmd'] +"""GARD:0015294""","granulomatous disease, chronic, x-linked","['cgd', 'cytochrome b-negative granulomatous disease; chronic; x-linked', 'chronic granulomatous disease; x-linked']" +"""GARD:0015295""","hernia, anterior diaphragmatic",[] +"""GARD:0015296""","hypouricemia, familial renal, due to tubular hypersecretion",[] +"""GARD:0015297""","ifap syndrome 1, with or without bresheck syndrome",['ichthyosis follicularis; atrichia; and photophobia with or without brain anomalies; retardation; ectodermal dysplasia; skeletal malformations; hirschsprung disease; ear/eye anomalies; cleft palate/cryptorchidism; and kidney dysplasia/hypoplasia'] +"""GARD:0015298""",developmental and epileptic encephalopathy 1,"['xmesid', 'ohtahara syndrome; x-linked', 'west syndrome; x-linked', 'infantile spasm syndrome; x-linked 1', 'epileptic encephalopathy; early infantile; 1']" +"""GARD:0015299""","keratosis follicularis spinulosa decalvans, x-linked",['keratosis follicularis spinulosa decalvans cum ophiasi'] +"""GARD:0015300""","leber hereditary optic neuropathy, modifier of","['lhon; modifier of', 'leber optic atrophy; susceptibility to']" +"""GARD:0015301""","proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis",[] +"""GARD:0015302""","spermatogenic failure, x-linked, 2",['male infertility from defect in meiosis'] +"""GARD:0015304""","microphthalmia, syndromic 1","['microphthalmia; syndromic 4; formerly', 'maa; formerly', 'anop1; formerly', 'lenz dysplasia', 'lenz microphthalmia syndrome']" +"""GARD:0015305""","nephrolithiasis, x-linked recessive, with renal failure","['nephrolithiasis 1', 'nephrolithiasis; x-linked recessive; type 1', 'urolithiasis; x-linked recessive; type 1']" +"""GARD:0015306""","night blindness, congenital stationary, type 1a","['hemeralopia-myopia', 'myopia-night blindness', 'csnb; complete; x-linked', 'night blindness; congenital stationary; with myopia']" +"""GARD:0015308""",split-hand/foot malformation 2,[] +"""GARD:0015309""","vacterl association, x-linked, with or without hydrocephalus",['vacterl-h; x-linked'] +"""GARD:0015310""","retinitis pigmentosa, y-linked",[] +"""GARD:0015311""",leber optic atrophy and dystonia,"['leber hereditary optic neuropathy with dystonia', 'marsden syndrome', 'dystonia; familial; with visual failure and striatal lucencies']" +"""GARD:0015312""","myopathy, lactic acidosis, and sideroblastic anemia 3",[] +"""GARD:0015313""","wolfram syndrome, mitochondrial form","['didmoad syndrome; mitochondrial form', 'diabetes insipidus and mellitus with optic atrophy and deafness; mitochondrial form']" +"""GARD:0015314""",stargardt disease 3,"['macular dystrophy with flecks; type 3', 'stargardt-like macular dystrophy; autosomal dominant']" +"""GARD:0015315""","hirschsprung disease, susceptibility to, 2",[] +"""GARD:0015316""","hirschsprung disease, susceptibility to, 5",[] +"""GARD:0015317""","muscular dystrophy, scapulohumeral",[] +"""GARD:0015319""","epilepsy, nocturnal frontal lobe, 1",[] +"""GARD:0015320""",uv-sensitive syndrome 1,[] +"""GARD:0015321""","fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement",['feom3 locus'] +"""GARD:0015322""",frontotemporal dementia and/or amyotrophic lateral sclerosis 7,"['amyotrophic lateral sclerosis 17; formerly', 'frontotemporal dementia; chromosome 3-linked', 'amyotrophic lateral sclerosis; chmp2b-related']" +"""GARD:0015323""","cardiomyopathy, dilated, 1b",[] +"""GARD:0015324""","fanconi anemia, complementation group e",['face'] +"""GARD:0015325""","wiskott-aldrich syndrome, autosomal dominant",[] +"""GARD:0015326""","nephrotic syndrome, type 2",['nephrotic syndrome; steroid-resistant; autosomal recessive'] +"""GARD:0015327""",cataract 24,[] +"""GARD:0015328""",wilms tumor 4,[] +"""GARD:0015329""","platelet disorder, familial, with associated myeloid malignancy","['platelet disorder; aspirin-like', 'thrombocytopenia; familial; with propensity to acute myelogenous leukemia']" +"""GARD:0015330""","myasthenic syndrome, congenital, 1a, slow-channel","['cms iia; formerly', 'myasthenic syndrome; congenital; type iia; formerly']" +"""GARD:0015331""","cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction",[] +"""GARD:0015332""","cardiomyopathy, dilated, 1d",['left ventricular noncompaction 6; included'] +"""GARD:0015334""","prostate cancer, hereditary, 1",['prca1'] +"""GARD:0015335""","cataract 3, multiple types","['cataract 3; multiple types; with or without microcornea', 'cataract; congenital; cerulean type; 2']" +"""GARD:0015336""",wilms tumor 5,['wilms tumor; susceptibility to'] +"""GARD:0015337""",exudative vitreoretinopathy 4,[] +"""GARD:0015340""",friedreich ataxia 2,[] +"""GARD:0015341""","fibrosis of extraocular muscles, congenital, 2","['feom2 locus', 'fibrosis of extraocular muscles; congenital; autosomal recessive']" +"""GARD:0015342""",cone dystrophy 3,['retinal cone dystrophy'] +"""GARD:0015343""","amyotrophic lateral sclerosis 5, juvenile",[] +"""GARD:0015344""","nephropathy, progressive tubulointerstitial, with cholestatic liver disease",[] +"""GARD:0015346""",auriculocondylar syndrome 1,['question mark ears syndrome'] +"""GARD:0015347""","chondrodysplasia punctata, brachytelephalangic, autosomal",[] +"""GARD:0015348""","bartter syndrome, type 4a, neonatal, with sensorineural deafness",['bartter syndrome; neonatal; with sensorineural deafness'] +"""GARD:0015349""","ichthyosis, hystrix-like, with deafness",['hid syndrome'] +"""GARD:0015350""","renal tubular acidosis, distal, 3, with or without sensorineural hearing loss",['rtadr'] +"""GARD:0015351""","prostate cancer, hereditary, 8",[] +"""GARD:0015352""","epilepsy, nocturnal frontal lobe, 2",[] +"""GARD:0015353""",focal segmental glomerulosclerosis 1,['glomerulosclerosis; focal segmental; 1'] +"""GARD:0015354""","thyroid carcinoma, nonmedullary, with or without cell oxyphilia",[] +"""GARD:0015355""","fanconi anemia, complementation group f",[] +"""GARD:0015356""",cone-rod dystrophy 7,[] +"""GARD:0015357""",prostate cancer/brain cancer susceptibility,"['pcbc', 'capb']" +"""GARD:0015358""",papillary thyroid microcarcinoma,[] +"""GARD:0015359""",stargardt disease 4,[] +"""GARD:0015360""",microcephaly with simplified gyral pattern,[] +"""GARD:0015361""","autoimmune lymphoproliferative syndrome, type iia",['autoimmune lymphoproliferative syndrome; type ii'] +"""GARD:0015362""",focal segmental glomerulosclerosis 2,['glomerulosclerosis; focal segmental; 2'] +"""GARD:0015363""","cardiomyopathy, dilated, 1g",[] +"""GARD:0015364""","cataract 9, multiple types","['cataract; autosomal recessive congenital 1', 'cataract; autosomal dominant', 'cataract 9; multiple types; with or without microcornea']" +"""GARD:0015365""","cardiomyopathy, dilated, 1h",[] +"""GARD:0015366""","microcephaly 2, primary, autosomal recessive, with or without cortical malformations",[] +"""GARD:0015367""","microcephaly 4, primary, autosomal recessive",[] +"""GARD:0015368""","advanced sleep phase syndrome, familial, 1",[] +"""GARD:0015370""","van der woude syndrome 1, modifier of",['vwsm'] +"""GARD:0015372""","cardiomyopathy, dilated, 1i",[] +"""GARD:0015373""","microcephaly 3, primary, autosomal recessive",[] +"""GARD:0015374""",wolfram syndrome 2,[] +"""GARD:0015375""",cortisone reductase deficiency 1,[] +"""GARD:0015376""","hypobetalipoproteinemia, familial, 2",['hypolipidemia; familial; combined'] +"""GARD:0015377""","carney complex, type 2",[] +"""GARD:0015378""",split-hand/foot malformation 4,[] +"""GARD:0015379""",optic atrophy 4,[] +"""GARD:0015380""","epilepsy, nocturnal frontal lobe, 3",[] +"""GARD:0015381""",cone-rod dystrophy 8,[] +"""GARD:0015382""","cardiomyopathy, dilated, 1k",[] +"""GARD:0015383""","deafness, autosomal dominant 39, with dentinogenesis imperfecta 1","['dfna39/dgi1 syndrome', 'dfna39/dentinogenesis imperfecta 1 syndrome', 'dgi1/dfna39 syndrome']" +"""GARD:0015384""",cerebellar ataxia and hypergonadotropic hypogonadism,[] +"""GARD:0015385""","microphthalmia, isolated, with coloboma 2",[] +"""GARD:0015386""",exudative vitreoretinopathy 3,[] +"""GARD:0015387""","myasthenic syndrome, congenital, 4a, slow-channel","['congenital myasthenic syndrome type ia1; formerly', 'cms ia1; formerly']" +"""GARD:0015388""","narcolepsy 2, susceptibility to",[] +"""GARD:0015389""","spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2","['ataxia-ocular apraxia 2', 'ataxia-oculomotor apraxia 2', 'spinocerebellar ataxia; autosomal recessive 1; formerly']" +"""GARD:0015390""",diamond-blackfan anemia 15 with mandibulofacial dysostosis,[] +"""GARD:0015391""","thyroid cancer, nonmedullary, 3",[] +"""GARD:0015392""",maturity-onset diabetes of the young,['mason-type diabetes'] +"""GARD:0015393""","ichthyosis, congenital, autosomal recessive 3","['collodion baby; self-healing', 'ichthyosis; lamellar; 5; formerly']" +"""GARD:0015394""","melanoma, uveal, susceptibility to, 1",[] +"""GARD:0015395""","melanoma, uveal, susceptibility to, 2",[] +"""GARD:0015396""","waardenburg syndrome, type 2c",[] +"""GARD:0015397""","cardiomyopathy, dilated, 1l",[] +"""GARD:0015398""",split-hand/foot malformation 5,[] +"""GARD:0015399""",seckel syndrome 2,"['microcephalic primordial dwarfism 2', 'seckel-type dwarfism 2']" +"""GARD:0015400""","ciliary dyskinesia, primary, 2",['ciliary dyskinesia; primary; 2; with or without situs inversus'] +"""GARD:0015401""","pancreatic cancer, susceptibility to, 1",['pnca1'] +"""GARD:0015402""","hirschsprung disease, susceptibility to, 6",[] +"""GARD:0015403""","hirschsprung disease, susceptibility to, 7",[] +"""GARD:0015404""","usher syndrome, type ig",[] +"""GARD:0015405""",senior-loken syndrome 3,[] +"""GARD:0015406""",senior-loken syndrome 4,[] +"""GARD:0015407""","brachydactyly, type a1, b",[] +"""GARD:0015408""","aortic aneurysm, familial thoracic 1",[] +"""GARD:0015409""","aortic aneurysm, familial thoracic 2",[] +"""GARD:0015410""",moyamoya disease 2,[] +"""GARD:0015411""",smith-mccort dysplasia 1,['smc'] +"""GARD:0015412""",glucocorticoid deficiency 2,['familial glucocorticoid deficiency 2'] +"""GARD:0015413""","cardiomyopathy, dilated, 1m",[] +"""GARD:0015414""","atrial fibrillation, familial, 3",[] +"""GARD:0015415""","leprosy, susceptibility to, 2",[] +"""GARD:0015416""","pontocerebellar hypoplasia, type 1a","['pontocerebellar hypoplasia with anterior horn cell disease', 'pontocerebellar hypoplasia with infantile spinal muscular atrophy', 'pch1']" +"""GARD:0015417""","ichthyosis, cyclic, with epidermolytic hyperkeratosis","['ciehk', 'epidermolytic ichthyosis; annular']" +"""GARD:0015418""","candidiasis, familial, 3",[] +"""GARD:0015420""",hypotrichosis-lymphedema-telangiectasia syndrome,[] +"""GARD:0015421""",mitral valve prolapse 2,"['myxomatous mitral valve prolapse 2', 'mitral valve prolapse; myxomatous 2']" +"""GARD:0015422""","focal segmental glomerulosclerosis 3, susceptibility to",['glomerulosclerosis; focal segmental; 3; susceptibility to'] +"""GARD:0015423""",hypotrichosis 6,"['monilethrix-like hypotrichosis', 'hypotrichosis; localized; autosomal recessive 1', 'htl', 'hypotrichosis; localized; autosomal recessive']" +"""GARD:0015424""","periventricular heterotopia with microcephaly, autosomal recessive","['periventricular nodular heterotopia 2', 'heterotopia; periventricular; autosomal recessive']" +"""GARD:0015425""",periventricular nodular heterotopia 3,[] +"""GARD:0015426""",cone-rod dystrophy 13,[] +"""GARD:0015427""","seizures, benign familial neonatal, 3",['convulsions; benign familial neonatal; 3'] +"""GARD:0015428""",weill-marchesani syndrome 2,"['glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome', 'mesodermal dysmorphodystrophy; congenital', 'spherophakia-brachymorphia syndrome', 'weill-marchesani syndrome; autosomal dominant']" +"""GARD:0015429""","myopathy, myosin storage, autosomal dominant","['myopathy; hyaline body; autosomal dominant', 'myopathy with lysis of type i myofibrils']" +"""GARD:0015430""",branchiootic syndrome 3,['bo syndrome 3'] +"""GARD:0015431""","microcephaly 6, primary, autosomal recessive",[] +"""GARD:0015432""","hirschsprung disease, susceptibility to, 8",[] +"""GARD:0015434""","cardiomyopathy, dilated, 1o",['cardiomyopathy; dilated; with ventricular tachycardia'] +"""GARD:0015435""",joubert syndrome 3,[] +"""GARD:0015436""","ciliary dyskinesia, primary, 3",['ciliary dyskinesia; primary; 3; with or without situs inversus'] +"""GARD:0015437""","ciliary dyskinesia, primary, 4",[] +"""GARD:0015438""","ciliary dyskinesia, primary, 5",['ciliary dyskinesia; primary; 5; without situs inversus'] +"""GARD:0015439""","prostate cancer, hereditary, 3",[] +"""GARD:0015440""","prostate cancer, hereditary, 4",[] +"""GARD:0015441""","microcephaly 5, primary, autosomal recessive",[] +"""GARD:0015442""",moyamoya disease 3,[] +"""GARD:0015443""","myoclonic epilepsy, juvenile, susceptibility to, 3",[] +"""GARD:0015444""","waardenburg syndrome, type 2d",['waardenburg syndrome; type iid'] +"""GARD:0015445""","myasthenic syndrome, congenital, 1b, fast-channel",[] +"""GARD:0015446""","atrial fibrillation, familial, 2",[] +"""GARD:0015447""",narcolepsy 3,[] +"""GARD:0015448""","fanconi anemia, complementation group i",[] +"""GARD:0015449""","fanconi anemia, complementation group j",[] +"""GARD:0015450""",glucocorticoid deficiency 3,[] +"""GARD:0015451""",senior-loken syndrome 5,[] +"""GARD:0015452""",nemaline myopathy 6,[] +"""GARD:0015453""",nemaline myopathy 1,[] +"""GARD:0015454""",nemaline myopathy 4,[] +"""GARD:0015455""","prostate cancer, hereditary, 5",[] +"""GARD:0015456""",developmental and epileptic encephalopathy 3,['epileptic encephalopathy; early infantile; 3'] +"""GARD:0015457""","colorectal cancer, hereditary nonpolyposis, type 2","['coca2', 'colon cancer; familial nonpolyposis; type 2']" +"""GARD:0015458""",cerebrorenodigital syndrome with limb malformations and triradiate acetabula,[] +"""GARD:0015459""","fibrosis of extraocular muscles, congenital, 3c",[] +"""GARD:0015460""",left ventricular noncompaction 2,[] +"""GARD:0015461""","stickler syndrome, type i, nonsyndromic ocular","['stickler syndrome; type i; predominantly ocular', 'stickler syndrome; atypical']" +"""GARD:0015462""","prostate cancer, hereditary, 6",[] +"""GARD:0015463""",photoparoxysmal response 2,[] +"""GARD:0015464""",photoparoxysmal response 3,[] +"""GARD:0015465""",joubert syndrome 4,[] +"""GARD:0015466""","fibrosis of extraocular muscles, congenital, with synergistic divergence","['congenital fibrosis syndrome with synergistic divergence', 'external ophthalmoplegia with synergistic divergence', 'external ophthalmoplegia; synergistic divergence; jaw winking; and oculocutaneous hypopigmentation; included']" +"""GARD:0015467""","leukemia, chronic lymphocytic, susceptibility to, 1",[] +"""GARD:0015469""","cardiomyopathy, dilated, 1p",[] +"""GARD:0015470""","cardiomyopathy, dilated, 1q",[] +"""GARD:0015471""","microphthalmia, isolated, with coloboma 3",['microphthalmia; colobomatous; isolated 3'] +"""GARD:0015472""",aicardi-goutieres syndrome 2,[] +"""GARD:0015473""","cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2",['cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2'] +"""GARD:0015474""",diaphragmatic hernia 3,[] +"""GARD:0015475""",joubert syndrome 5,[] +"""GARD:0015476""",senior-loken syndrome 6,[] +"""GARD:0015477""",cone-rod dystrophy 10,[] +"""GARD:0015478""","prostate cancer, hereditary, 7",[] +"""GARD:0015479""",aicardi-goutieres syndrome 3,[] +"""GARD:0015480""",aicardi-goutieres syndrome 4,[] +"""GARD:0015481""","epilepsy, nocturnal frontal lobe, 4",['epilepsy; familial; with nocturnal wandering and ictal fear'] +"""GARD:0015482""","diabetes mellitus, transient neonatal, 2",[] +"""GARD:0015483""","west nile virus, susceptibility to",['wnv; susceptibility to'] +"""GARD:0015484""",cone-rod dystrophy 11,[] +"""GARD:0015485""","cone-rod synaptic disorder, congenital nonprogressive","['night blindness; congenital stationary; incomplete; autosomal recessive; formerly', 'night blindness; congenital stationary; type 2b; formerly']" +"""GARD:0015486""","macroglobulinemia, waldenstrom, susceptibility to, 2",[] +"""GARD:0015487""","night blindness, congenital stationary, autosomal dominant 3",['night blindness; congenital stationary; nougaret type'] +"""GARD:0015488""","night blindness, congenital stationary, autosomal dominant 1",['night blindness; congenital stationary; rhodopsin-related'] +"""GARD:0015489""","pigmented nodular adrenocortical disease, primary, 2","['cushing syndrome; adrenal; due to ppnad2', 'pigmented micronodular adrenocortical disease; primary; 2']" +"""GARD:0015490""","diabetes mellitus, transient neonatal, 3",['tndm3'] +"""GARD:0015492""",split-hand/foot malformation with long bone deficiency 2,[] +"""GARD:0015493""",nemaline myopathy 7,[] +"""GARD:0015494""",joubert syndrome 6,[] +"""GARD:0015495""","nephrotic syndrome, type 3",['nephrotic syndrome; early-onset; type 3'] +"""GARD:0015496""",alopecia areata 2,[] +"""GARD:0015497""",cerebrooculofacioskeletal syndrome 2,[] +"""GARD:0015498""",cerebrooculofacioskeletal syndrome 4,[] +"""GARD:0015499""",cornelia de lange syndrome 3 with or without midline brain defects,[] +"""GARD:0015500""","fanconi anemia, complementation group n",[] +"""GARD:0015501""",mitral valve prolapse 3,"['mitral valve prolapse; myxomatous 3', 'myxomatous mitral valve prolapse 3']" +"""GARD:0015502""","ciliary dyskinesia, primary, 6",[] +"""GARD:0015503""",branchiootorenal syndrome 2,[] +"""GARD:0015504""","leprosy, susceptibility to, 4",[] +"""GARD:0015505""","prostate cancer, hereditary, 9",[] +"""GARD:0015506""",episodic kinesigenic dyskinesia 2,[] +"""GARD:0015507""","prostate cancer, hereditary, 10",[] +"""GARD:0015508""",retinitis pigmentosa 37,[] +"""GARD:0015509""","meckel syndrome, type 4",['meckel-gruber syndrome; type 4'] +"""GARD:0015510""",paroxysmal nonkinesigenic dyskinesia 2,[] +"""GARD:0015511""",short-rib thoracic dysplasia 2 with or without polydactyly,['asphyxiating thoracic dystrophy 2'] +"""GARD:0015512""",atrial septal defect 4,[] +"""GARD:0015513""","myoclonic epilepsy, juvenile, susceptibility to, 4",[] +"""GARD:0015514""","usher syndrome, type iid",[] +"""GARD:0015515""","cardiomyopathy, dilated, 1w",[] +"""GARD:0015516""","atrial fibrillation, familial, 4",[] +"""GARD:0015517""","atrial fibrillation, familial, 5",[] +"""GARD:0015518""",leopard syndrome 2,[] +"""GARD:0015519""",joubert syndrome 7,[] +"""GARD:0015520""","meckel syndrome, type 5",[] +"""GARD:0015521""","waardenburg syndrome, type 2e","['waardenburg syndrome; type 2e; with or without neurologic involvement', 'hypogonadotropic hypogonadism with anosmia and deafness; with or without hypopigmentation', 'waardenburg syndrome; type iie', 'ws2e; with or without neurologic involvement']" +"""GARD:0015522""","cardiomyopathy, dilated, 1x",['cardiomyopathy; dilated; with mild or no proximal muscle weakness'] +"""GARD:0015523""","epilepsy, familial temporal lobe, 4",[] +"""GARD:0015524""","microphthalmia, isolated, with coloboma 5",[] +"""GARD:0015525""","hirschsprung disease, susceptibility to, 9",[] +"""GARD:0015526""",brugada syndrome 2,[] +"""GARD:0015527""","aortic aneurysm, familial thoracic 6",['familial thoracic aortic aneurysm with livedo reticularis and iris flocculi'] +"""GARD:0015528""",elliptocytosis 1,"['4.1-minus trait', 'elliptocytosis; rhesus-linked type', '4.1- trait', 'protein 4.1 of erythrocyte membrane; defect of']" +"""GARD:0015529""","prostate cancer, hereditary, 12",[] +"""GARD:0015530""","cardiomyopathy, dilated, 1y",[] +"""GARD:0015531""","cardiomyopathy, dilated, 1z",[] +"""GARD:0015532""","cardiomyopathy, dilated, 2a","['cardiomyopathy; congestive; autosomal recessive', 'cardiomyopathy; dilated; autosomal recessive']" +"""GARD:0015533""","ciliary dyskinesia, primary, 7",['ciliary dyskinesia; primary; 7; with or without situs inversus'] +"""GARD:0015534""","prostate cancer, hereditary, 13",[] +"""GARD:0015535""","ventricular tachycardia, catecholaminergic polymorphic, 2",['ventricular tachycardia; stress-induced polymorphic'] +"""GARD:0015536""","prostate cancer, hereditary, 11",[] +"""GARD:0015537""","prostate cancer, hereditary, 14",[] +"""GARD:0015538""","prostate cancer, hereditary, 15",[] +"""GARD:0015539""","coenzyme q10 deficiency, primary, 4",['spinocerebellar ataxia; autosomal recessive 9'] +"""GARD:0015540""",amyotrophic lateral sclerosis 10 with or without frontotemporal dementia,[] +"""GARD:0015541""","hypouricemia, renal, 2",[] +"""GARD:0015542""",ectodermal dysplasia and immunodeficiency 2,"['ectodermal dysplasia; anhidrotic; with t-cell immunodeficiency; autosomal dominant', 'ectodermal dysplasia; hypohidrotic; with immunodeficiency 2', 'ectodermal dysplasia; anhidrotic; with immunodeficiency 2']" +"""GARD:0015543""","cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction",[] +"""GARD:0015544""","atrial fibrillation, familial, 6",[] +"""GARD:0015545""","atrial fibrillation, familial, 7",[] +"""GARD:0015546""","ciliary dyskinesia, primary, 8",[] +"""GARD:0015547""","ichthyosis, congenital, autosomal recessive 6",['ichthyosis; congenital; autosomal recessive; nipal4-related'] +"""GARD:0015548""","meckel syndrome, type 6",[] +"""GARD:0015549""",joubert syndrome 9,[] +"""GARD:0015550""",joubert syndrome 8,[] +"""GARD:0015551""","porokeratosis 5, disseminated superficial actinic type",[] +"""GARD:0015552""","porokeratosis 6, multiple types",[] +"""GARD:0015553""","pontocerebellar hypoplasia, type 2b",[] +"""GARD:0015554""","pontocerebellar hypoplasia, type 2c",[] +"""GARD:0015555""","narcolepsy 4, susceptibility to",[] +"""GARD:0015556""","epilepsy, progressive myoclonic, 1b",[] +"""GARD:0015557""","leukodystrophy, hypomyelinating, 6",['leukodystrophy; hypomyelinating; with atrophy of the basal ganglia and cerebellum'] +"""GARD:0015558""","ciliary dyskinesia, primary, 9",['ciliary dyskinesia; primary; 9; with or without situs inversus'] +"""GARD:0015559""","wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome",[] +"""GARD:0015560""","ciliary dyskinesia, primary, 10",['ciliary dyskinesia; primary; 10; with or without situs inversus'] +"""GARD:0015561""",diamond-blackfan anemia 4,[] +"""GARD:0015562""",diamond-blackfan anemia 5,[] +"""GARD:0015563""","amelogenesis imperfecta, hypomaturation type, iia2",['amelogenesis imperfecta; pigmented hypomaturation type; 2'] +"""GARD:0015564""","focal segmental glomerulosclerosis 4, susceptibility to",['end-stage renal disease; nondiabetic; susceptibility to; included'] +"""GARD:0015565""","leukemia, chronic lymphocytic, susceptibility to, 3",[] +"""GARD:0015566""","leukemia, chronic lymphocytic, susceptibility to, 4",[] +"""GARD:0015567""","leukemia, chronic lymphocytic, susceptibility to, 5",[] +"""GARD:0015568""",diamond-blackfan anemia 6,['aase-smith syndrome ii'] +"""GARD:0015569""",diamond-blackfan anemia 7,[] +"""GARD:0015570""",diamond-blackfan anemia 8,[] +"""GARD:0015571""",retinitis pigmentosa 46,['retinitis pigmentosa; autosomal recessive; idh3b-related'] +"""GARD:0015572""","chromosome 17p13.3, telomeric, duplication syndrome",[] +"""GARD:0015573""","usher syndrome, type ih",[] +"""GARD:0015574""","ciliary dyskinesia, primary, 11",['ciliary dyskinesia; primary; 11; without situs inversus'] +"""GARD:0015575""","ciliary dyskinesia, primary, 12",['ciliary dyskinesia; primary; 12; without situs inversus'] +"""GARD:0015576""","spherocytosis, type 4",['spherocytosis; hereditary; 4'] +"""GARD:0015577""",cone-rod dystrophy 12,[] +"""GARD:0015578""","spherocytosis, type 5",['spherocytosis; hereditary; 5'] +"""GARD:0015579""","agammaglobulinemia 6, autosomal recessive",['agammaglobulinemia; autosomal recessive; due to cd79b defect'] +"""GARD:0015580""","microcephaly 7, primary, autosomal recessive",[] +"""GARD:0015581""",dyschromatosis universalis hereditaria 2,[] +"""GARD:0015582""",cone-rod dystrophy 9,[] +"""GARD:0015583""","question mark ears, isolated","['auricular cleft; congenital', 'ears; prominent and constricted', 'cosman deformity of the auricle']" +"""GARD:0015584""",brugada syndrome 5,[] +"""GARD:0015585""",hypotrichosis 5,['marie unna hereditary hypotrichosis 2'] +"""GARD:0015586""","keratosis follicularis spinulosa decalvans, autosomal dominant",[] +"""GARD:0015587""","narcolepsy 5, susceptibility to",[] +"""GARD:0015588""","cardiomyopathy, dilated, 1bb",[] +"""GARD:0015589""","chromosome 5q14.3 deletion syndrome, distal",[] +"""GARD:0015590""",keratosis palmoplantaris striata ii,"['striate palmoplantar keratoderma ii', 'keratoderma; palmoplantar; striate form ii']" +"""GARD:0015591""",three m syndrome 2,['3m syndrome 2'] +"""GARD:0015592""","spastic paraplegia 50, autosomal recessive",['cerebral palsy; spastic quadriplegic; 3; formerly'] +"""GARD:0015593""",retinitis pigmentosa 42,[] +"""GARD:0015595""",long qt syndrome 12,[] +"""GARD:0015596""","ventricular fibrillation, paroxysmal familial, 2",[] +"""GARD:0015597""",multiple synostoses syndrome 3,[] +"""GARD:0015598""","46,xy sex reversal 3","['disorder of sex development; 46;xy; nr5a1-related', '46;xy gonadal dysgenesis; partial or complete; with or without adrenal failure', 'sex reversal; xy; with or without adrenal failure', '46;xy sex reversal; partial or complete; nr5a1-related']" +"""GARD:0015599""","cataract 34, multiple types","['cataract 34; multiple types; with or without microcornea', 'cataract; autosomal recessive congenital 3']" +"""GARD:0015600""","immunodeficiency 83, susceptibility to viral infections",[] +"""GARD:0015601""","biliary cirrhosis, primary, 2",[] +"""GARD:0015602""","biliary cirrhosis, primary, 3",[] +"""GARD:0015603""","neuroblastoma, susceptibility to, 2",[] +"""GARD:0015604""","neuroblastoma, susceptibility to, 3",[] +"""GARD:0015605""","neuroblastoma, susceptibility to, 4",[] +"""GARD:0015606""","neuroblastoma, susceptibility to, 5",[] +"""GARD:0015607""","neuroblastoma, susceptibility to, 6",[] +"""GARD:0015608""","follicular lymphoma, susceptibility to, 1",[] +"""GARD:0015609""","atrial fibrillation, familial, 8",[] +"""GARD:0015610""",metaphyseal anadysplasia 2,[] +"""GARD:0015611""","46,xy sex reversal 5","['46;xy gonadal dysgenesis; complete; cbx2-related', '46;xy sex reversal; cbx2-related', 'disorder of sex development; 46;xy; cbx2-related', 'sex reversal; xy; cbx2-related']" +"""GARD:0015612""","bartter syndrome, type 4b, neonatal, with sensorineural deafness",[] +"""GARD:0015613""",short-rib thoracic dysplasia 3 with or without polydactyly,"['short rib-polydactyly syndrome; type i', 'saldino-noonan syndrome', 'polydactyly with neonatal chondrodystrophy; type i', 'short rib-polydactyly syndrome; type iii', 'verma-naumoff syndrome', 'polydactyly with neonatal chondrodystrophy; type iii', 'short rib-polydactyly syndrome; type iib', 'asphyxiating thoracic dystrophy 3']" +"""GARD:0015614""","hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease",[] +"""GARD:0015615""","choroidal dystrophy, central areolar 2",['macular dystrophy; progressive'] +"""GARD:0015616""","neutropenia, severe congenital, 2, autosomal dominant",[] +"""GARD:0015617""","candidiasis, familial, 4",['candidiasis; familial chronic mucocutaneous'] +"""GARD:0015618""","neuropathy, hereditary sensory and autonomic, type iib",[] +"""GARD:0015619""",brugada syndrome 6,[] +"""GARD:0015620""",brugada syndrome 7,[] +"""GARD:0015621""","cardiomyopathy, dilated, 1cc",[] +"""GARD:0015622""",brugada syndrome 8,[] +"""GARD:0015623""","choroidal dystrophy, central areolar, 3",['choroidal dystrophy; central areolar; with or without drusen'] +"""GARD:0015624""","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2",['walker-warburg syndrome or muscle-eye-brain disease; pomt2-related'] +"""GARD:0015625""","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5",['walker-warburg syndrome or muscle-eye-brain disease; fkrp-related'] +"""GARD:0015626""","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6",['walker-warburg syndrome or muscle-eye-brain disease; large-related'] +"""GARD:0015627""","cardiomyopathy, dilated, 1dd",[] +"""GARD:0015628""","ciliary dyskinesia, primary, 13",['ciliary dyskinesia; primary; 13; with or without situs inversus'] +"""GARD:0015629""",retinitis pigmentosa 50,[] +"""GARD:0015630""","amelogenesis imperfecta, hypomaturation type, iia3",[] +"""GARD:0015631""","night blindness, congenital stationary, type 1c",['csnb; complete; autosomal recessive'] +"""GARD:0015632""","leprosy, susceptibility to, 5",[] +"""GARD:0015633""","factor xiii, a subunit, deficiency of",[] +"""GARD:0015634""","cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3",['cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3'] +"""GARD:0015635""","factor xiii, b subunit, deficiency of",[] +"""GARD:0015636""",focal segmental glomerulosclerosis 5,['glomerulosclerosis; focal segmental; 5'] +"""GARD:0015637""","thyrotoxic periodic paralysis, susceptibility to, 2",[] +"""GARD:0015638""","colorectal cancer, hereditary nonpolyposis, type 8",[] +"""GARD:0015639""","cardiomyopathy, dilated, 1ee",[] +"""GARD:0015640""",tuberous sclerosis 2,[] +"""GARD:0015641""","waardenburg syndrome, type 4b","['waardenburg syndrome; type 4b; with hirschsprung disease', 'waardenburg syndrome; type ivb']" +"""GARD:0015642""","waardenburg syndrome, type 4c","['waardenburg syndrome with hirschsprung disease; type 4c', 'waardenburg syndrome; type ivc']" +"""GARD:0015643""","cardiomyopathy, dilated, 1ff",[] +"""GARD:0015644""",diamond-blackfan anemia 9,[] +"""GARD:0015645""",diamond-blackfan anemia 10,[] +"""GARD:0015646""",exudative vitreoretinopathy 5,[] +"""GARD:0015647""","hemochromatosis, type 2b",[] +"""GARD:0015648""",miyoshi muscular dystrophy 2,[] +"""GARD:0015649""","hypokalemic periodic paralysis, type 2",[] +"""GARD:0015650""","pancreatic cancer, susceptibility to, 2",['pnca2'] +"""GARD:0015651""","pancreatic cancer, susceptibility to, 3",['pnca3'] +"""GARD:0015652""","maturity-onset diabetes of the young, type 10",[] +"""GARD:0015653""","maturity-onset diabetes of the young, type 11",[] +"""GARD:0015654""","brachydactyly, type e2",[] +"""GARD:0015655""",fanconi renotubular syndrome 2,[] +"""GARD:0015656""","fanconi anemia, complementation group o",[] +"""GARD:0015657""","breast-ovarian cancer, familial, susceptibility to, 3",[] +"""GARD:0015658""","arthrogryposis, renal dysfunction, and cholestasis 2",[] +"""GARD:0015659""","leprosy, susceptibility to, 6",[] +"""GARD:0015660""",oguchi disease 2,['night blindness; congenital stationary; oguchi type 2'] +"""GARD:0015661""","cardiomyopathy, dilated, 1r",[] +"""GARD:0015662""",retinitis pigmentosa 54,[] +"""GARD:0015663""",amyotrophic lateral sclerosis 12 with or without frontotemporal dementia,[] +"""GARD:0015664""","rett syndrome, congenital variant",[] +"""GARD:0015665""",retinitis pigmentosa 51,[] +"""GARD:0015666""",long qt syndrome 13,[] +"""GARD:0015667""",myxoid liposarcoma,[] +"""GARD:0015668""","immunodeficiency, common variable, 3",['antibody deficiency due to cd19 defect'] +"""GARD:0015669""","immunodeficiency, common variable, 4",['antibody deficiency due to baffr defect'] +"""GARD:0015670""","immunodeficiency, common variable, 5",['antibody deficiency due to cd20 defect'] +"""GARD:0015671""","immunodeficiency, common variable, 6",['antibody deficiency due to cd81 defect'] +"""GARD:0015672""","agammaglobulinemia 2, autosomal recessive",['agammaglobulinemia; autosomal recessive; due to igll1 defect'] +"""GARD:0015673""","agammaglobulinemia 3, autosomal recessive",['agammaglobulinemia; autosomal recessive; due to cd79a defect'] +"""GARD:0015674""","agammaglobulinemia 4, autosomal recessive",['agammaglobulinemia; autosomal recessive; due to blnk defect'] +"""GARD:0015675""","agammaglobulinemia 5, autosomal dominant",['agammaglobulinemia; autosomal dominant; due to lrrc8a defect'] +"""GARD:0015676""","myopathy, lactic acidosis, and sideroblastic anemia 2",[] +"""GARD:0015677""",retinitis pigmentosa 55,[] +"""GARD:0015678""",retinitis pigmentosa 56,[] +"""GARD:0015679""",retinitis pigmentosa 57,[] +"""GARD:0015680""",cranioectodermal dysplasia 2,[] +"""GARD:0015681""",senior-loken syndrome 7,[] +"""GARD:0015682""",retinitis pigmentosa 58,[] +"""GARD:0015683""","neuropathy, hereditary sensory and autonomic, type ic","['hsan ic', 'hsn ic', 'neuropathy; hereditary sensory; type ic']" +"""GARD:0015684""","cardiomyopathy, dilated, 1gg",[] +"""GARD:0015685""",d-2-hydroxyglutaric aciduria 2,[] +"""GARD:0015686""",cone-rod dystrophy 15,[] +"""GARD:0015687""",seckel syndrome 4,[] +"""GARD:0015688""",chromosome 2q31.1 duplication syndrome,[] +"""GARD:0015689""","cardiomyopathy, dilated, 1u",[] +"""GARD:0015690""","cardiomyopathy, dilated, 1v",[] +"""GARD:0015691""","klippel-feil syndrome 3, autosomal dominant",[] +"""GARD:0015692""","microphthalmia, isolated, with coloboma 6",[] +"""GARD:0015693""",noonan syndrome 7,[] +"""GARD:0015694""",leopard syndrome 3,[] +"""GARD:0015695""","neuropathy, hereditary sensory, type id",[] +"""GARD:0015696""","hirschsprung disease, susceptibility to, 3",[] +"""GARD:0015697""","hirschsprung disease, susceptibility to, 4",[] +"""GARD:0015698""",treacher collins syndrome 2,[] +"""GARD:0015699""",developmental and epileptic encephalopathy 11,['epileptic encephalopathy; early infantile; 11'] +"""GARD:0015700""",retinitis pigmentosa 27,[] +"""GARD:0015701""",retinitis pigmentosa 49,[] +"""GARD:0015702""",retinitis pigmentosa 47,[] +"""GARD:0015703""","46,xy sex reversal 6","['46;xy sex reversal; partial or complete; map3k1-related', '46;xy gonadal dysgenesis; partial or complete; map3k1-related']" +"""GARD:0015704""",retinitis pigmentosa 45,[] +"""GARD:0015705""",retinitis pigmentosa 44,[] +"""GARD:0015706""","aortic aneurysm, familial thoracic 7",['aortic dissection; familial; with or without aortic aneurysm'] +"""GARD:0015707""",complement component c1s deficiency,['c1s deficiency'] +"""GARD:0015708""",meier-gorlin syndrome 2,[] +"""GARD:0015709""",retinitis pigmentosa 40,[] +"""GARD:0015710""",meier-gorlin syndrome 3,[] +"""GARD:0015711""",meier-gorlin syndrome 4,[] +"""GARD:0015712""",meier-gorlin syndrome 5,[] +"""GARD:0015713""","ciliary dyskinesia, primary, 14",['ciliary dyskinesia; primary; 14; with or without situs inversus'] +"""GARD:0015714""","ciliary dyskinesia, primary, 15",['ciliary dyskinesia; primary; 15; with or without situs inversus'] +"""GARD:0015715""",retinitis pigmentosa 39,[] +"""GARD:0015716""",retinitis pigmentosa 43,[] +"""GARD:0015717""","pontocerebellar hypoplasia, type 2d",['cerebellocerebral atrophy; progressive'] +"""GARD:0015718""",short-rib thoracic dysplasia 4 with or without polydactyly,['asphyxiating thoracic dystrophy 4'] +"""GARD:0015719""",seckel syndrome 5,[] +"""GARD:0015720""",retinitis pigmentosa 48,[] +"""GARD:0015721""","night blindness, congenital stationary, type 1d",['csnb; complete; autosomal recessive'] +"""GARD:0015722""","osteogenesis imperfecta, type xii",['oi; type xii'] +"""GARD:0015723""",achromatopsia 4,[] +"""GARD:0015724""",retinitis pigmentosa 59,[] +"""GARD:0015725""",retinitis pigmentosa 38,['rod-cone dystrophy; childhood-onset'] +"""GARD:0015726""","cardiomyopathy, dilated, 1hh",[] +"""GARD:0015727""","meckel syndrome, type 8",[] +"""GARD:0015728""",megalencephalic leukoencephalopathy with subcortical cysts 2a,[] +"""GARD:0015729""","megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation",[] +"""GARD:0015730""",alopecia-intellectual disability syndrome 3,[] +"""GARD:0015731""","fanconi anemia, complementation group p",[] +"""GARD:0015732""",immunodeficiency 51,['candidiasis; familial; 5; formerly'] +"""GARD:0015733""",frontotemporal dementia and/or amyotrophic lateral sclerosis 6,['amyotrophic lateral sclerosis 14 with or without frontotemporal dementia; formerly'] +"""GARD:0015734""",spermatogenic failure 8,[] +"""GARD:0015735""",spermatogenic failure 9,"['globozoospermia; total', 'globozoospermia; complete']" +"""GARD:0015736""","granulomatous disease, chronic, autosomal recessive, 3","['cgd; autosomal recessive cytochrome b-positive; type iii', 'granulomatous disease; chronic; due to ncf4 deficiency', 'granulomatous disease; chronic; autosomal recessive; cytochrome b-positive; type iii']" +"""GARD:0015737""","atrial fibrillation, familial, 9",[] +"""GARD:0015738""",retinitis pigmentosa 60,[] +"""GARD:0015739""","dyskeratosis congenita, autosomal recessive 2",[] +"""GARD:0015740""","dyskeratosis congenita, autosomal recessive 3",[] +"""GARD:0015741""","dyskeratosis congenita, autosomal dominant 2",[] +"""GARD:0015742""","dyskeratosis congenita, autosomal dominant 3",[] +"""GARD:0015743""","ciliary dyskinesia, primary, 16",['ciliary dyskinesia; primary; 16; with or without situs inversus'] +"""GARD:0015744""","ventricular tachycardia, catecholaminergic polymorphic, 3",[] +"""GARD:0015745""","atrial fibrillation, familial, 10",[] +"""GARD:0015746""",moyamoya disease 5,[] +"""GARD:0015747""","atrial fibrillation, familial, 11",[] +"""GARD:0015748""","atrial fibrillation, familial, 12",[] +"""GARD:0015749""","spastic paraplegia 47, autosomal recessive",['cerebral palsy; spastic quadriplegic; 5; formerly'] +"""GARD:0015750""","spastic paraplegia 52, autosomal recessive",['cerebral palsy; spastic quadriplegic; 6; formerly'] +"""GARD:0015751""",immunodeficiency-centromeric instability-facial anomalies syndrome 2,[] +"""GARD:0015752""","aspergillosis, susceptibility to",[] +"""GARD:0015753""","fanconi anemia, complementation group g",[] +"""GARD:0015754""","fanconi anemia, complementation group l",[] +"""GARD:0015755""",atrial septal defect 3,[] +"""GARD:0015756""",short-rib thoracic dysplasia 7 with or without polydactyly,['short rib-polydactyly syndrome; type v'] +"""GARD:0015757""",cranioectodermal dysplasia 3,[] +"""GARD:0015758""",mosaic variegated aneuploidy syndrome 2,[] +"""GARD:0015759""",hydrolethalus syndrome 2,[] +"""GARD:0015760""",perrault syndrome 3,['deafness; autosomal recessive 81; formerly'] +"""GARD:0015761""",focal segmental glomerulosclerosis 6,['glomerulosclerosis; focal segmental; 6'] +"""GARD:0015762""","nail disorder, nonsyndromic congenital, 9",[] +"""GARD:0015763""",paragangliomas 5,[] +"""GARD:0015764""",brittle cornea syndrome 2,[] +"""GARD:0015765""",joubert syndrome 13,[] +"""GARD:0015766""",retinitis pigmentosa 61,[] +"""GARD:0015767""",retinitis pigmentosa 62,[] +"""GARD:0015768""",geleophysic dysplasia 2,[] +"""GARD:0015769""","pigmented nodular adrenocortical disease, primary, 3",['cushing syndrome; adrenal; due to ppnad3'] +"""GARD:0015770""","nephrotic syndrome, type 6",[] +"""GARD:0015771""","myasthenic syndrome, congenital, 16",['myasthenic syndrome; congenital; acetazolamide-responsive'] +"""GARD:0015772""",three m syndrome 3,['3m syndrome 3'] +"""GARD:0015773""","meckel syndrome, type 9",[] +"""GARD:0015774""","neuropathy, hereditary sensory, type iic",[] +"""GARD:0015775""",adams-oliver syndrome 2,[] +"""GARD:0015776""","biliary cirrhosis, primary, 4",[] +"""GARD:0015777""","biliary cirrhosis, primary, 5",[] +"""GARD:0015778""",warburg micro syndrome 3,['micro syndrome 3'] +"""GARD:0015779""","narcolepsy 6, susceptibility to",[] +"""GARD:0015780""",warburg micro syndrome 2,['micro syndrome 2'] +"""GARD:0015781""",hypotrichosis 9,[] +"""GARD:0015782""",hypotrichosis 10,[] +"""GARD:0015783""",narcolepsy 7,[] +"""GARD:0015784""","epilepsy, juvenile myoclonic, susceptibility to, 9",[] +"""GARD:0015785""","breast-ovarian cancer, familial, susceptibility to, 4",[] +"""GARD:0015786""",sclerosteosis 2,[] +"""GARD:0015787""",alpha-methylacyl-coa racemase deficiency,['amacr deficiency'] +"""GARD:0015788""","pancreatic cancer, susceptibility to, 4",[] +"""GARD:0015789""","colorectal cancer, hereditary nonpolyposis, type 6",['colon cancer; hereditary nonpolyposis; type 6'] +"""GARD:0015790""","arthrogryposis, distal, type 1b",[] +"""GARD:0015791""","colorectal cancer, hereditary nonpolyposis, type 4",[] +"""GARD:0015792""","colorectal cancer, hereditary nonpolyposis, type 5",[] +"""GARD:0015793""","surfactant metabolism dysfunction, pulmonary, 5","['pap due to csf2rb deficiency', 'csf2rb deficiency', 'pulmonary alveolar proteinosis 5']" +"""GARD:0015794""","amyotrophic lateral sclerosis 16, juvenile",[] +"""GARD:0015795""",short-rib thoracic dysplasia 5 with or without polydactyly,['asphyxiating thoracic dystrophy 5'] +"""GARD:0015796""",cranioectodermal dysplasia 4,[] +"""GARD:0015797""",complement component 4b deficiency,['c4b deficiency'] +"""GARD:0015798""",complement component 4a deficiency,['c4a deficiency'] +"""GARD:0015799""","colorectal cancer, hereditary nonpolyposis, type 7",[] +"""GARD:0015800""",cataract 37,[] +"""GARD:0015801""",joubert syndrome 14,[] +"""GARD:0015802""","cutis laxa, autosomal dominant 2",[] +"""GARD:0015803""",hypoplastic left heart syndrome 2,[] +"""GARD:0015804""","cutis laxa, autosomal recessive, type ib",[] +"""GARD:0015805""","hypertrophic osteoarthropathy, primary, autosomal recessive, 2","['pachydermoperiostosis; autosomal recessive', 'pdp; autosomal recessive']" +"""GARD:0015806""",joubert syndrome 15,[] +"""GARD:0015807""",joubert syndrome 16,[] +"""GARD:0015808""",brain small vessel disease 2,['porencephaly 2; formerly'] +"""GARD:0015809""",wiskott-aldrich syndrome 2,"['wipf1 deficiency', 'wip deficiency']" +"""GARD:0015810""",retinitis pigmentosa 63,[] +"""GARD:0015811""","microphthalmia, isolated, with coloboma 7",[] +"""GARD:0015812""",cone-rod dystrophy 16,['retinal dystrophy with early macular involvement'] +"""GARD:0015813""","usher syndrome, type iiib",[] +"""GARD:0015814""",mirror movements 2,[] +"""GARD:0015815""",fibrochondrogenesis 2,[] +"""GARD:0015816""","night blindness, congenital stationary, type 1e",['csnb; complete; autosomal recessive'] +"""GARD:0015817""",baraitser-winter syndrome 2,[] +"""GARD:0015818""",olmsted syndrome 1,['palmoplantar keratoderma; mutilating; with periorificial keratotic plaques 1'] +"""GARD:0015819""",trichohepatoenteric syndrome 2,[] +"""GARD:0015820""",coffin-siris syndrome 2,['mental retardation; autosomal dominant 14'] +"""GARD:0015821""",coffin-siris syndrome 3,['mental retardation; autosomal dominant 15'] +"""GARD:0015822""",coffin-siris syndrome 4,['mental retardation; autosomal dominant 16'] +"""GARD:0015823""",acrodysostosis 2 with or without hormone resistance,[] +"""GARD:0015824""",joubert syndrome 17,[] +"""GARD:0015825""",hyperekplexia 3,[] +"""GARD:0015826""",hyperekplexia 2,[] +"""GARD:0015827""",uv-sensitive syndrome 2,[] +"""GARD:0015828""",uv-sensitive syndrome 3,[] +"""GARD:0015829""","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7",['walker-warburg syndrome or muscle-eye-brain disease; ispd-related'] +"""GARD:0015830""",cortisone reductase deficiency 2,[] +"""GARD:0015831""",auriculocondylar syndrome 2,[] +"""GARD:0015832""","cardiomyopathy, dilated, 2b",[] +"""GARD:0015833""","microcephaly 8, primary, autosomal recessive",[] +"""GARD:0015834""","pontocerebellar hypoplasia, type 1b",[] +"""GARD:0015835""","ciliary dyskinesia, primary, 17",['ciliary dyskinesia; primary; 17; with or without situs inversus'] +"""GARD:0015836""","immunodeficiency, common variable, 7",[] +"""GARD:0015837""",cornelia de lange syndrome 4 with or without midline brain defects,[] +"""GARD:0015838""","porokeratosis 7, multiple types",[] +"""GARD:0015839""","prostate cancer, hereditary, 2",[] +"""GARD:0015840""",glucocorticoid deficiency 4 with or without mineralocorticoid deficiency,[] +"""GARD:0015841""",amyotrophic lateral sclerosis 18,[] +"""GARD:0015842""",adams-oliver syndrome 3,[] +"""GARD:0015843""",joubert syndrome 18,[] +"""GARD:0015844""",weill-marchesani syndrome 3,[] +"""GARD:0015845""",alternating hemiplegia of childhood 2,[] +"""GARD:0015846""","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8",['walker-warburg syndrome or muscle-eye-brain disease; gtdc2-related'] +"""GARD:0015847""","amelogenesis imperfecta, hypomaturation type, iia4",[] +"""GARD:0015848""","thyrotoxic periodic paralysis, susceptibility to, 3",[] +"""GARD:0015849""",hypogonadotropic hypogonadism 8 with or without anosmia,[] +"""GARD:0015850""",hypogonadotropic hypogonadism 9 with or without anosmia,[] +"""GARD:0015851""",hypogonadotropic hypogonadism 11 with or without anosmia,[] +"""GARD:0015852""",nephronophthisis 15,[] +"""GARD:0015853""","encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5",['herpes simplex encephalitis; susceptibility to; 3'] +"""GARD:0015854""","encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6",['herpes simplex encephalitis; susceptibility to; 4'] +"""GARD:0015855""","microcephaly 9, primary, autosomal recessive",[] +"""GARD:0015856""","osteogenesis imperfecta, type xiii",['oi; type xiii'] +"""GARD:0015857""",hypogonadotropic hypogonadism 14 with or without anosmia,[] +"""GARD:0015858""",peroxisome biogenesis disorder 3a (zellweger),[] +"""GARD:0015859""",peroxisome biogenesis disorder 4a (zellweger),[] +"""GARD:0015860""",peroxisome biogenesis disorder 4b,[] +"""GARD:0015861""",peroxisome biogenesis disorder 5a (zellweger),[] +"""GARD:0015862""",peroxisome biogenesis disorder 5b,[] +"""GARD:0015863""","usher syndrome, type ij",[] +"""GARD:0015864""",peroxisome biogenesis disorder 6a (zellweger),[] +"""GARD:0015865""",peroxisome biogenesis disorder 6b,[] +"""GARD:0015866""",peroxisome biogenesis disorder 7a (zellweger),[] +"""GARD:0015867""",peroxisome biogenesis disorder 7b,[] +"""GARD:0015868""","ciliary dyskinesia, primary, 18",['ciliary dyskinesia; primary; 18; with or without situs inversus'] +"""GARD:0015869""",peroxisome biogenesis disorder 8a (zellweger),[] +"""GARD:0015870""",peroxisome biogenesis disorder 8b,[] +"""GARD:0015871""",peroxisome biogenesis disorder 9b,"['refsum disease; adult; 2', 'peroxisome biogenesis disorder; pex7-related; atypical']" +"""GARD:0015872""",hypogonadotropic hypogonadism 15 with or without anosmia,[] +"""GARD:0015873""",peroxisome biogenesis disorder 10a (zellweger),[] +"""GARD:0015874""",peroxisome biogenesis disorder 11a (zellweger),[] +"""GARD:0015875""",peroxisome biogenesis disorder 11b,[] +"""GARD:0015876""",peroxisome biogenesis disorder 12a (zellweger),[] +"""GARD:0015877""",peroxisome biogenesis disorder 13a (zellweger),[] +"""GARD:0015878""",hypogonadotropic hypogonadism 16 with or without anosmia,[] +"""GARD:0015879""",diamond-blackfan anemia 11,[] +"""GARD:0015880""","ventricular tachycardia, catecholaminergic polymorphic, 4",[] +"""GARD:0015881""",peroxisome biogenesis disorder 14b,[] +"""GARD:0015882""",perrault syndrome 2,[] +"""GARD:0015883""","ciliary dyskinesia, primary, 19",['ciliary dyskinesia; primary; 19; with or without situs inversus'] +"""GARD:0015884""","palmoplantar keratoderma, punctate type ib",[] +"""GARD:0015885""","ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive","['ectodermal dysplasia; hypohidrotic', 'ectodermal dysplasia; anhidrotic']" +"""GARD:0015886""",developmental and epileptic encephalopathy 14,['epileptic encephalopathy; early infantile; 14'] +"""GARD:0015887""",joubert syndrome 20,[] +"""GARD:0015888""","cholestasis, intrahepatic, of pregnancy 3",[] +"""GARD:0015889""",carpenter syndrome 2,[] +"""GARD:0015890""","usher syndrome, type ik",[] +"""GARD:0015891""","epilepsy, nocturnal frontal lobe, 5",[] +"""GARD:0015892""",developmental and epileptic encephalopathy 15,['epileptic encephalopathy; early infantile; 15'] +"""GARD:0015893""","basal ganglia calcification, idiopathic, 4",[] +"""GARD:0015894""",aicardi-goutieres syndrome 6,[] +"""GARD:0015895""","ichthyosis, congenital, autosomal recessive 7",[] +"""GARD:0015896""","ichthyosis, congenital, autosomal recessive 9",[] +"""GARD:0015897""","ichthyosis, congenital, autosomal recessive 10",[] +"""GARD:0015898""","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10",['walker-warburg syndrome or muscle-eye-brain disease; tmem5-related'] +"""GARD:0015899""","night blindness, congenital stationary, type 1f",[] +"""GARD:0015900""",hypotrichosis 11,[] +"""GARD:0015901""","osteogenesis imperfecta, type xiv",['oi; type xiv'] +"""GARD:0015902""","ciliary dyskinesia, primary, 20",['ciliary dyskinesia; primary; 20; with or without situs inversus'] +"""GARD:0015903""","brachydactyly, type a1, c",[] +"""GARD:0015904""",spermatogenic failure 11,[] +"""GARD:0015905""","osteopetrosis, autosomal recessive 8",[] +"""GARD:0015906""",left ventricular noncompaction 7,[] +"""GARD:0015907""",urofacial syndrome 2,[] +"""GARD:0015908""","myasthenic syndrome, congenital, 8","['myasthenic syndrome; congenital; with pre- and postsynaptic defects', 'myasthenic syndrome; congenital; due to agrin deficiency']" +"""GARD:0015909""","microphthalmia, isolated, with coloboma 9",[] +"""GARD:0015910""","mitochondrial complex iii deficiency, nuclear type 2",[] +"""GARD:0015911""","mitochondrial complex iii deficiency, nuclear type 3",[] +"""GARD:0015912""","mitochondrial complex iii deficiency, nuclear type 4",[] +"""GARD:0015913""","mitochondrial complex iii deficiency, nuclear type 5",[] +"""GARD:0015914""",cone-rod dystrophy 17,[] +"""GARD:0015915""","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11",['walker-warburg syndrome or muscle-eye-brain disease; b3galnt2-related'] +"""GARD:0015916""","cardiomyopathy, dilated, 1ii",[] +"""GARD:0015917""","dyskeratosis congenita, autosomal recessive 5",[] +"""GARD:0015918""","agammaglobulinemia 7, autosomal recessive",['agammaglobulinemia; autosomal recessive; due to pik3r1 defect'] +"""GARD:0015919""","osteogenesis imperfecta, type xv",['oi; type xv'] +"""GARD:0015920""",bone mineral density quantitative trait locus 16,['osteoporosis; early-onset; susceptibility to'] +"""GARD:0015921""",smith-mccort dysplasia 2,[] +"""GARD:0015922""","advanced sleep phase syndrome, familial, 2",[] +"""GARD:0015923""",retinitis pigmentosa 66,[] +"""GARD:0015924""","cardiomyopathy, dilated, 1jj",[] +"""GARD:0015925""","nephrotic syndrome, type 8",[] +"""GARD:0015926""","cardiomyopathy, dilated, 1kk",[] +"""GARD:0015927""","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12",['walker-warburg syndrome or muscle-eye-brain disease; pomk-related'] +"""GARD:0015928""",hypogonadotropic hypogonadism 17 with or without anosmia,[] +"""GARD:0015929""",hypogonadotropic hypogonadism 18 with or without anosmia,[] +"""GARD:0015930""","cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4",['cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4'] +"""GARD:0015931""",hypogonadotropic hypogonadism 19 with or without anosmia,[] +"""GARD:0015932""",hypogonadotropic hypogonadism 20 with or without anosmia,[] +"""GARD:0015933""",hypogonadotropic hypogonadism 21 with or without anosmia,[] +"""GARD:0015934""","fanconi anemia, complementation group q",[] +"""GARD:0015935""",cardiofaciocutaneous syndrome 2,[] +"""GARD:0015936""",cardiofaciocutaneous syndrome 3,[] +"""GARD:0015937""",cardiofaciocutaneous syndrome 4,[] +"""GARD:0015938""","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13",['walker-warburg syndrome or muscle-eye-brain disease; b3gnt1-related'] +"""GARD:0015939""","myofibromatosis, infantile, 2",[] +"""GARD:0015940""","ciliary dyskinesia, primary, 21",['ciliary dyskinesia; primary; 21; without situs inversus'] +"""GARD:0015941""",adams-oliver syndrome 4,[] +"""GARD:0015942""","symphalangism, proximal, 1b",[] +"""GARD:0015943""",perrault syndrome 4,[] +"""GARD:0015944""",dowling-degos disease 2,[] +"""GARD:0015945""",developmental and epileptic encephalopathy 16,['epileptic encephalopathy; early infantile; 16'] +"""GARD:0015946""",nemaline myopathy 8,[] +"""GARD:0015947""","ehlers-danlos syndrome, spondylodysplastic type, 2",['ehlers-danlos syndrome; progeroid type; 2; formerly'] +"""GARD:0015948""","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14",['walker-warburg syndrome or muscle-eye-brain disease; gmppb-related'] +"""GARD:0015949""",noonan syndrome 8,[] +"""GARD:0015950""",leber congenital amaurosis 17,[] +"""GARD:0015951""","hypocalcemia, autosomal dominant 2",[] +"""GARD:0015952""",left ventricular noncompaction 8,[] +"""GARD:0015953""",cone-rod dystrophy 18,[] +"""GARD:0015954""","atrial fibrillation, familial, 13",[] +"""GARD:0015955""","atrial fibrillation, familial, 14",[] +"""GARD:0015956""",left ventricular noncompaction 10,[] +"""GARD:0015957""","meckel syndrome, type 11",[] +"""GARD:0015958""",paroxysmal nocturnal hemoglobinuria 2,[] +"""GARD:0015959""",dyschromatosis universalis hereditaria 3,[] +"""GARD:0015960""",spermatogenic failure 12,[] +"""GARD:0015961""","mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive",[] +"""GARD:0015962""",inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2,['multisystem proteinopathy 2'] +"""GARD:0015963""",inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3,['multisystem proteinopathy 3'] +"""GARD:0015964""",amyotrophic lateral sclerosis 20,[] +"""GARD:0015965""",retinitis pigmentosa 82 with or without situs inversus,[] +"""GARD:0015966""","aortic aneurysm, familial thoracic 8",[] +"""GARD:0015967""","cardiac arrhythmia syndrome, with or without skeletal muscle weakness","['triaden knockout syndrome', 'ventricular tachycardia; catecholaminergic polymorphic; 5; with or without muscle weakness']" +"""GARD:0015968""","ciliary dyskinesia, primary, 22",['ciliary dyskinesia; primary; 22; with or without situs inversus'] +"""GARD:0015969""","ciliary dyskinesia, primary, 23",['ciliary dyskinesia; primary; 23; with or without situs inversus'] +"""GARD:0015970""","mitochondrial complex iii deficiency, nuclear type 6",[] +"""GARD:0015971""","ciliary dyskinesia, primary, 24",['ciliary dyskinesia; primary; 24; without situs inversus'] +"""GARD:0015972""","ciliary dyskinesia, primary, 25",['ciliary dyskinesia; primary; 25; with or without situs inversus'] +"""GARD:0015973""","basal ganglia calcification, idiopathic, 5",[] +"""GARD:0015974""","ciliary dyskinesia, primary, 26",['ciliary dyskinesia; primary; 26; with or without situs inversus'] +"""GARD:0015975""",short-rib thoracic dysplasia 8 with or without polydactyly,['short rib-polydactyly syndrome; type vi'] +"""GARD:0015976""","ciliary dyskinesia, primary, 27",['ciliary dyskinesia; primary; 27; without situs inversus'] +"""GARD:0015977""","ciliary dyskinesia, primary, 28",['ciliary dyskinesia; primary; 28; with or without situs inversus'] +"""GARD:0015978""","telangiectasia, hereditary hemorrhagic, type 5",[] +"""GARD:0015979""","immunodeficiency 14a, autosomal dominant",['p110-delta-activating mutation causing senescent t cells; lymphadenopathy; and immunodeficiency'] +"""GARD:0015980""",amyotrophic lateral sclerosis 19,[] +"""GARD:0015981""","candidiasis, familial, 8",['candidiasis; familial chronic mucocutaneous; autosomal recessive'] +"""GARD:0015982""","ehlers-danlos syndrome, musculocontractural type, 2",[] +"""GARD:0015983""",periventricular nodular heterotopia 6,[] +"""GARD:0015984""",van maldergem syndrome 2,[] +"""GARD:0015985""",diamond-blackfan anemia 12,[] +"""GARD:0015986""","melioidosis, susceptibility to",[] +"""GARD:0015987""","autoimmune lymphoproliferative syndrome, type iii",['immunodeficiency; common variable; 9; formerly'] +"""GARD:0015988""",retinitis pigmentosa 67,[] +"""GARD:0015989""","nephrotic syndrome, type 9",[] +"""GARD:0015990""","immunodeficiency, common variable, 10","['deficit in anterior pituitary function and variable immunodeficiency', 'immunodeficiency; common variable; with central adrenal insufficiency']" +"""GARD:0015991""",fanconi renotubular syndrome 3,[] +"""GARD:0015992""","cholangiocarcinoma, susceptibility to",['chlc; susceptibility to'] +"""GARD:0015993""",short-rib thoracic dysplasia 10 with or without polydactyly,[] +"""GARD:0015994""","anemia, congenital dyserythropoietic, type ib",['cda; type ib'] +"""GARD:0015995""","neuropathy, hereditary sensory, type if",['hsn if'] +"""GARD:0015996""",short-rib thoracic dysplasia 11 with or without polydactyly,[] +"""GARD:0015997""",joubert syndrome 21,[] +"""GARD:0015998""",warburg micro syndrome 4,[] +"""GARD:0015999""",joubert syndrome 22,[] +"""GARD:0016000""",schwannomatosis 2,[] +"""GARD:0016001""",dowling-degos disease 3,[] +"""GARD:0016002""",dowling-degos disease 4,[] +"""GARD:0016003""",auriculocondylar syndrome 3,[] +"""GARD:0016004""",retinitis pigmentosa 68,[] +"""GARD:0016005""",pachyonychia congenita 3,[] +"""GARD:0016006""",pachyonychia congenita 4,[] +"""GARD:0016007""",nemaline myopathy 9,[] +"""GARD:0016008""",developmental and epileptic encephalopathy 19,['epileptic encephalopathy; early infantile; 19'] +"""GARD:0016009""","polymicrogyria, bilateral perisylvian, autosomal recessive",['pmgr'] +"""GARD:0016010""","atrial fibrillation, familial, 15",[] +"""GARD:0016011""",retinitis pigmentosa 69,[] +"""GARD:0016012""",white sponge nevus 2,[] +"""GARD:0016013""",seckel syndrome 8,[] +"""GARD:0016014""","cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis",[] +"""GARD:0016015""","mitochondrial complex iii deficiency, nuclear type 7",[] +"""GARD:0016016""","pigmented nodular adrenocortical disease, primary, 4","['chromosome 19p13 duplication syndrome', 'cushing syndrome; adrenal; due to ppnad4']" +"""GARD:0016017""",developmental and epileptic encephalopathy 21,['epileptic encephalopathy; early infantile; 21'] +"""GARD:0016018""","mitochondrial complex iii deficiency, nuclear type 8",[] +"""GARD:0016019""",spermatogenic failure 13,[] +"""GARD:0016020""",spermatogenic failure 14,[] +"""GARD:0016021""",aicardi-goutieres syndrome 7,[] +"""GARD:0016022""",cone-rod dystrophy 19,[] +"""GARD:0016023""",coffin-siris syndrome 9,['mental retardation; autosomal dominant 27'] +"""GARD:0016024""",developmental and epileptic encephalopathy 24,['epileptic encephalopathy; early infantile; 24'] +"""GARD:0016025""","ciliary dyskinesia, primary, 29",['ciliary dyskinesia; primary; 29; without situs inversus'] +"""GARD:0016026""","myopathy, tubular aggregate, 2",[] +"""GARD:0016027""",hypotrichosis 12,[] +"""GARD:0016028""","amelogenesis imperfecta, hypomaturation type, iia5",[] +"""GARD:0016029""",hypotrichosis 13,['hypotrichosis with woolly hair'] +"""GARD:0016030""",diamond-blackfan anemia 13,[] +"""GARD:0016031""","cardiomyopathy, dilated, 1nn",[] +"""GARD:0016032""",retinitis pigmentosa 70,[] +"""GARD:0016033""",pancreatic agenesis 2,['pancreatic hypoplasia; congenital 2'] +"""GARD:0016034""",acth-independent macronodular adrenal hyperplasia 2,['primary macronodular adrenal hyperplasia'] +"""GARD:0016035""","myopathy, centronuclear, 5",[] +"""GARD:0016036""",cone-rod dystrophy 20,[] +"""GARD:0016037""",bardet-biedl syndrome 13,[] +"""GARD:0016038""",bardet-biedl syndrome 14,[] +"""GARD:0016039""",bardet-biedl syndrome 15,[] +"""GARD:0016040""",bardet-biedl syndrome 16,[] +"""GARD:0016041""",bardet-biedl syndrome 17,[] +"""GARD:0016042""",bardet-biedl syndrome 18,[] +"""GARD:0016043""",bardet-biedl syndrome 19,[] +"""GARD:0016044""","breasts and/or nipples, aplasia or hypoplasia of, 2",[] +"""GARD:0016045""",focal segmental glomerulosclerosis 7,['glomerulosclerosis; focal segmental; 7'] +"""GARD:0016046""",immunodeficiency 36,[] +"""GARD:0016047""",hennekam lymphangiectasia-lymphedema syndrome 2,[] +"""GARD:0016048""",fanconi renotubular syndrome 4 with maturity-onset diabetes of the young,['frts4 with mody'] +"""GARD:0016049""",adams-oliver syndrome 5,[] +"""GARD:0016050""",hypogonadotropic hypogonadism 22 with or without anosmia,[] +"""GARD:0016051""",focal segmental glomerulosclerosis 8,['glomerulosclerosis; focal segmental; 8'] +"""GARD:0016052""","ciliary dyskinesia, primary, 30",['ciliary dyskinesia; primary; 30; with or without situs inversus'] +"""GARD:0016053""","myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant",[] +"""GARD:0016054""","microcephaly 13, primary, autosomal recessive",[] +"""GARD:0016055""",mirror movements 3,[] +"""GARD:0016056""","porokeratosis 8, disseminated superficial actinic type",[] +"""GARD:0016057""","microcephaly 12, primary, autosomal recessive",[] +"""GARD:0016058""","pontocerebellar hypoplasia, type 1c",['hypomyelination with spinal muscular atrophy and cerebellar hypoplasia'] +"""GARD:0016059""","psoriasis 15, pustular, susceptibility to",[] +"""GARD:0016060""","mitochondrial complex iii deficiency, nuclear type 9",[] +"""GARD:0016061""",familial cold autoinflammatory syndrome 4,[] +"""GARD:0016062""",perrault syndrome 5,[] +"""GARD:0016063""",developmental and epileptic encephalopathy 27,['epileptic encephalopathy; early infantile; 27'] +"""GARD:0016064""","macular dystrophy, vitelliform, 4",[] +"""GARD:0016065""","macular dystrophy, vitelliform, 5",[] +"""GARD:0016066""",nemaline myopathy 10,[] +"""GARD:0016067""","aortic aneurysm, familial thoracic 9",['aortic aneurysm; thoracic; with or without aortic dissection'] +"""GARD:0016068""",amyotrophic lateral sclerosis 22 with or without frontotemporal dementia,[] +"""GARD:0016069""",developmental and epileptic encephalopathy 28,['epileptic encephalopathy; early infantile; 28'] +"""GARD:0016070""",focal segmental glomerulosclerosis 9,['glomerulosclerosis; focal segmental; 9'] +"""GARD:0016071""","amelogenesis imperfecta, type ih",[] +"""GARD:0016072""","osteogenesis imperfecta, type xvi",['oi; type xvi'] +"""GARD:0016073""",long qt syndrome 14,[] +"""GARD:0016074""",long qt syndrome 15,[] +"""GARD:0016075""",congenital limbs-face contractures-hypotonia-developmental delay syndrome,['clifahdd syndrome'] +"""GARD:0016076""","amelogenesis imperfecta, type if",['amelogenesis imperfecta; hypoplastic type if'] +"""GARD:0016077""",cole-carpenter syndrome 2,[] +"""GARD:0016078""",singleton-merten syndrome 2,[] +"""GARD:0016079""",short-rib thoracic dysplasia 13 with or without polydactyly,[] +"""GARD:0016080""","myasthenic syndrome, congenital, 17",[] +"""GARD:0016081""",senior-loken syndrome 8,[] +"""GARD:0016082""","intellectual developmental disorder, autosomal dominant 33",['mental retardation; autosomal dominant 33'] +"""GARD:0016083""","myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency",[] +"""GARD:0016084""","myasthenic syndrome, congenital, 3a, slow-channel",[] +"""GARD:0016085""","myasthenic syndrome, congenital, 3b, fast-channel",[] +"""GARD:0016086""","myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency",[] +"""GARD:0016087""","myasthenic syndrome, congenital, 4b, fast-channel",[] +"""GARD:0016088""","myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency",[] +"""GARD:0016089""","myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency","['myasthenic syndrome; congenital; ie; formerly', 'cms ie; formerly']" +"""GARD:0016090""","maturity-onset diabetes of the young, type 13",['mody; type 13'] +"""GARD:0016091""","myasthenic syndrome, congenital, 18",['myasthenic syndrome; congenital; 18; with intellectual disability and ataxia'] +"""GARD:0016092""",developmental and epileptic encephalopathy 29,['epileptic encephalopathy; early infantile; 29'] +"""GARD:0016093""",developmental and epileptic encephalopathy 30,['epileptic encephalopathy; early infantile; 30'] +"""GARD:0016094""",developmental and epileptic encephalopathy 31,['epileptic encephalopathy; early infantile; 31'] +"""GARD:0016095""","dyskeratosis congenita, autosomal recessive 6",[] +"""GARD:0016096""",developmental and epileptic encephalopathy 32,['epileptic encephalopathy; early infantile; 32'] +"""GARD:0016097""","pulmonary fibrosis and/or bone marrow failure, telomere-related, 4",[] +"""GARD:0016098""","pulmonary fibrosis and/or bone marrow failure, telomere-related, 3",[] +"""GARD:0016099""","night blindness, congenital stationary, type 1g",[] +"""GARD:0016100""","trichothiodystrophy 2, photosensitive",[] +"""GARD:0016101""",retinitis pigmentosa 71,[] +"""GARD:0016102""","trichothiodystrophy 3, photosensitive",['trichothiodystrophy; complementation group a'] +"""GARD:0016103""","dystonia 26, myoclonic",[] +"""GARD:0016104""",brugada syndrome 9,[] +"""GARD:0016105""","microcephaly 14, primary, autosomal recessive",[] +"""GARD:0016106""",developmental and epileptic encephalopathy 33,['epileptic encephalopathy; early infantile; 33'] +"""GARD:0016107""","basal ganglia calcification, idiopathic, 6",[] +"""GARD:0016108""",myoclonic-atonic epilepsy,[] +"""GARD:0016109""","46,xy sex reversal 10",[] +"""GARD:0016110""","microphthalmia, isolated, with coloboma 10",[] +"""GARD:0016111""","fanconi anemia, complementation group t",[] +"""GARD:0016112""","epilepsy, familial temporal lobe, 7",[] +"""GARD:0016113""",frontotemporal dementia and/or amyotrophic lateral sclerosis 3,[] +"""GARD:0016114""","candidiasis, familial, 9",[] +"""GARD:0016115""",zimmermann-laband syndrome 2,[] +"""GARD:0016116""","epilepsy, familial temporal lobe, 8",[] +"""GARD:0016117""","acrofacial dysostosis, cincinnati type",[] +"""GARD:0016118""",exudative vitreoretinopathy 6,[] +"""GARD:0016119""",retinitis pigmentosa 72,[] +"""GARD:0016120""",ullrich congenital muscular dystrophy 2,[] +"""GARD:0016121""",bethlem myopathy 2,"['ehlers-danlos syndrome; myopathic type', 'eds; myopathic type']" +"""GARD:0016122""","ciliary dyskinesia, primary, 32",['ciliary dyskinesia; primary; 32; without situs inversus'] +"""GARD:0016123""","neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities",['microcephaly 15; primary; autosomal recessive'] +"""GARD:0016124""",joubert syndrome 23,[] +"""GARD:0016125""",cone-rod dystrophy 21,['retinal dystrophy with early macular involvement'] +"""GARD:0016126""","osteogenesis imperfecta, type xvii",[] +"""GARD:0016127""",cataract 44,['cataract 44 and hypotrichosis'] +"""GARD:0016128""","maturity-onset diabetes of the young, type 14",[] +"""GARD:0016129""",achromatopsia 7,[] +"""GARD:0016130""","neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities",['polymicrogyria; perisylvian; with cerebellar hypoplasia and arthrogryposis'] +"""GARD:0016131""","encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7",['herpes simplex encephalitis; susceptibility to; 5'] +"""GARD:0016132""","thyroid cancer, nonmedullary, 4",[] +"""GARD:0016133""","thyroid cancer, nonmedullary, 5",[] +"""GARD:0016134""","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9",['walker-warburg syndrome or muscle-eye brain disease; dag1-related'] +"""GARD:0016135""",retinitis pigmentosa 73,[] +"""GARD:0016136""","dyskeratosis congenita, autosomal dominant 6",[] +"""GARD:0016137""",noonan syndrome 9,[] +"""GARD:0016138""",retinitis pigmentosa 74,[] +"""GARD:0016139""",noonan syndrome 10,[] +"""GARD:0016140""",cerebrooculofacioskeletal syndrome 3,[] +"""GARD:0016141""","immunodeficiency, common variable, 12, with autoimmunity",['nfkb1 deficiency'] +"""GARD:0016142""",adams-oliver syndrome 6,[] +"""GARD:0016143""","cutis laxa, autosomal dominant 3",[] +"""GARD:0016144""",heimler syndrome 2,['peroxisome biogenesis disorder 4c'] +"""GARD:0016145""",senior-loken syndrome 9,[] +"""GARD:0016146""","porokeratosis 9, multiple types",[] +"""GARD:0016147""",developmental and epileptic encephalopathy 34,['epileptic encephalopathy; early infantile; 34'] +"""GARD:0016148""",optic atrophy 8,[] +"""GARD:0016149""","spherocytosis, type 2",['spherocytosis; hereditary; 2'] +"""GARD:0016150""",joubert syndrome 24,[] +"""GARD:0016151""","microcephaly 16, primary, autosomal recessive",[] +"""GARD:0016152""",dehydrated hereditary stomatocytosis 2,"['xerocytosis gardos', 'desiccytosis gardos']" +"""GARD:0016153""","myasthenic syndrome, congenital, 19",[] +"""GARD:0016154""","ciliary dyskinesia, primary, 33",['ciliary dyskinesia; primary; 33; without situs inversus'] +"""GARD:0016155""","nephrotic syndrome, type 11",[] +"""GARD:0016156""","skin creases, congenital symmetric circumferential, 2",[] +"""GARD:0016157""","woolly hair, autosomal recessive 3",['woolly hair; autosomal recessive 3; with hypotrichosis'] +"""GARD:0016158""",seckel syndrome 9,[] +"""GARD:0016159""",joubert syndrome 25,[] +"""GARD:0016160""",joubert syndrome 26,[] +"""GARD:0016161""","neuroblastoma, susceptibility to, 7",[] +"""GARD:0016162""",wilms tumor 6,[] +"""GARD:0016163""",meier-gorlin syndrome 6,[] +"""GARD:0016164""","brachydactyly, type a1, d",[] +"""GARD:0016165""","advanced sleep phase syndrome, familial, 3",[] +"""GARD:0016166""","nephrotic syndrome, type 12",[] +"""GARD:0016167""","nephrotic syndrome, type 13",[] +"""GARD:0016168""",immunodeficiency-centromeric instability-facial anomalies syndrome 3,[] +"""GARD:0016169""",immunodeficiency-centromeric instability-facial anomalies syndrome 4,[] +"""GARD:0016170""",coffin-siris syndrome 5,[] +"""GARD:0016171""","agammaglobulinemia 8a, autosomal dominant","['agammaglobulinemia; autosomal dominant; due to tcf3 defect', 'agm8']" +"""GARD:0016172""","trichothiodystrophy 6, nonphotosensitive",[] +"""GARD:0016173""",spermatogenic failure 15,[] +"""GARD:0016174""",polycystic liver disease 2 with or without kidney cysts,[] +"""GARD:0016175""",developmental and epileptic encephalopathy 38,"['epileptic encephalopathy; early infantile; 38', 'glycosylphosphatidylinositol biosynthesis defect 23']" +"""GARD:0016176""",retinitis pigmentosa 75,[] +"""GARD:0016177""","night blindness, congenital stationary, type 1h",[] +"""GARD:0016178""","pontocerebellar hypoplasia, type 2f",[] +"""GARD:0016180""",hermansky-pudlak syndrome 10,[] +"""GARD:0016181""",meier-gorlin syndrome 7,[] +"""GARD:0016182""",developmental and epileptic encephalopathy 40,['epileptic encephalopathy; early infantile; 40'] +"""GARD:0016183""","progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3",['progressive external ophthalmoplegia; autosomal recessive 3'] +"""GARD:0016184""","nasopharyngeal carcinoma, susceptibility to, 3",[] +"""GARD:0016185""",short-rib thoracic dysplasia 15 with polydactyly,[] +"""GARD:0016186""","microcephaly 17, primary, autosomal recessive",[] +"""GARD:0016187""","ciliary dyskinesia, primary, 34",['ciliary dyskinesia; primary; 34; without situs inversus'] +"""GARD:0016188""","ciliary dyskinesia, primary, 35",['ciliary dyskinesia; primary; 35; with or without situs inversus'] +"""GARD:0016189""",short-rib thoracic dysplasia 16 with or without polydactyly,[] +"""GARD:0016190""",developmental and epileptic encephalopathy 41,['epileptic encephalopathy; early infantile; 41'] +"""GARD:0016191""",developmental and epileptic encephalopathy 42,['epileptic encephalopathy; early infantile; 42'] +"""GARD:0016192""",developmental and epileptic encephalopathy 43,['epileptic encephalopathy; early infantile; 43'] +"""GARD:0016193""",bardet-biedl syndrome 22,['bardet-biedl syndrome 20; formerly'] +"""GARD:0016194""",joubert syndrome 27,[] +"""GARD:0016195""",joubert syndrome 28,[] +"""GARD:0016196""",retinitis pigmentosa 76,[] +"""GARD:0016197""",orofaciodigital syndrome xv,"['oral-facial-digital syndrome; type xv', 'ofds xv']" +"""GARD:0016198""",developmental and epileptic encephalopathy 44,['epileptic encephalopathy; early infantile; 44'] +"""GARD:0016199""",frontometaphyseal dysplasia 2,[] +"""GARD:0016200""",aniridia 2,[] +"""GARD:0016201""",aniridia 3,[] +"""GARD:0016202""","myasthenic syndrome, congenital, 20, presynaptic",[] +"""GARD:0016203""",developmental and epileptic encephalopathy 45,['epileptic encephalopathy; early infantile; 45'] +"""GARD:0016204""","myopathy, distal, with rimmed vacuoles",['multisystem proteinopathy 4'] +"""GARD:0016205""",developmental and epileptic encephalopathy 46,['epileptic encephalopathy; early infantile; 46'] +"""GARD:0016206""",developmental and epileptic encephalopathy 47,['epileptic encephalopathy; early infantile; 47'] +"""GARD:0016207""","aortic aneurysm, familial thoracic 10",['aortic aneurysm; thoracic; with or without aortic dissection'] +"""GARD:0016208""","intellectual developmental disorder, autosomal recessive 74",['sotos syndrome 3; formerly'] +"""GARD:0016209""","ehlers-danlos syndrome, periodontal type, 2",[] +"""GARD:0016210""",periventricular nodular heterotopia 7,[] +"""GARD:0016211""","amelogenesis imperfecta, hypomaturation type, iia6",[] +"""GARD:0016212""","myasthenic syndrome, congenital, 21, presynaptic",[] +"""GARD:0016213""","fanconi anemia, complementation group v",[] +"""GARD:0016214""","fanconi anemia, complementation group r",[] +"""GARD:0016215""","fanconi anemia, complementation group u",[] +"""GARD:0016216""",uncombable hair syndrome 2,[] +"""GARD:0016217""",uncombable hair syndrome 3,[] +"""GARD:0016218""",developmental and epileptic encephalopathy 48,['epileptic encephalopathy; early infantile; 48'] +"""GARD:0016219""","atrial fibrillation, familial, 18",[] +"""GARD:0016220""","amelogenesis imperfecta, type ij",[] +"""GARD:0016221""",retinitis pigmentosa 77,[] +"""GARD:0016222""","nemaline myopathy 11, autosomal recessive",[] +"""GARD:0016223""",developmental and epileptic encephalopathy 52,['epileptic encephalopathy; early infantile; 52'] +"""GARD:0016224""",developmental and epileptic encephalopathy 53,['epileptic encephalopathy; early infantile; 53'] +"""GARD:0016225""",developmental and epileptic encephalopathy 54,['epileptic encephalopathy; early infantile; 54'] +"""GARD:0016226""",bardet-biedl syndrome 21,[] +"""GARD:0016227""",diamond-blackfan anemia 16,[] +"""GARD:0016228""",diamond-blackfan anemia 17,[] +"""GARD:0016229""",retinitis pigmentosa 78,[] +"""GARD:0016230""","bleeding disorder, platelet-type, 21",[] +"""GARD:0016231""",retinitis pigmentosa 79,[] +"""GARD:0016232""",neurodevelopmental disorder with involuntary movements,[] +"""GARD:0016233""","microcephaly 18, primary, autosomal dominant",[] +"""GARD:0016234""","gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development",['developmental split-brain syndrome'] +"""GARD:0016235""",cohen-gibson syndrome,[] +"""GARD:0016236""",meckel syndrome 13,[] +"""GARD:0016237""",perrault syndrome 6,[] +"""GARD:0016238""",exudative vitreoretinopathy 7,[] +"""GARD:0016239""","ciliary dyskinesia, primary, 37",['ciliary dyskinesia; primary; 37; with or without situs inversus'] +"""GARD:0016240""",mosaic variegated aneuploidy syndrome 3,[] +"""GARD:0016241""",developmental and epileptic encephalopathy 55,"['glycosylphosphatidylinositol biosynthesis defect 14', 'epileptic encephalopathy; early infantile; 55']" +"""GARD:0016242""",polycystic kidney disease 5,[] +"""GARD:0016243""",joubert syndrome 30,[] +"""GARD:0016244""",blepharocheilodontic syndrome 2,[] +"""GARD:0016245""",spermatogenic failure 22,[] +"""GARD:0016246""",spermatogenic failure 23,[] +"""GARD:0016247""",galloway-mowat syndrome 3,[] +"""GARD:0016248""",galloway-mowat syndrome 4,[] +"""GARD:0016249""",galloway-mowat syndrome 5,[] +"""GARD:0016250""","myopathy, centronuclear, 6, with fiber-type disproportion",[] +"""GARD:0016251""",joubert syndrome 31,[] +"""GARD:0016252""",retinitis pigmentosa 80,[] +"""GARD:0016253""","microcephaly 19, primary, autosomal recessive",[] +"""GARD:0016254""",coffin-siris syndrome 6,[] +"""GARD:0016255""",geleophysic dysplasia 3,[] +"""GARD:0016256""","ehlers-danlos syndrome, arthrochalasia type, 2","['eds viib', 'ehlers-danlos syndrome; type viib; autosomal dominant']" +"""GARD:0016257""",glucocorticoid deficiency 5,[] +"""GARD:0016258""",developmental and epileptic encephalopathy 92,['epileptic encephalopathy; infantile or early childhood; 2'] +"""GARD:0016259""",developmental and epileptic encephalopathy 58,['epileptic encephalopathy; early infantile; 58'] +"""GARD:0016260""","intellectual developmental disorder, autosomal dominant 55, with seizures",['mental retardation; autosomal dominant 55; with seizures'] +"""GARD:0016261""",developmental delay and seizures with or without movement abnormalities,[] +"""GARD:0016262""",amyotrophic lateral sclerosis 23,[] +"""GARD:0016263""",li-fraumeni syndrome 2,[] +"""GARD:0016264""","fanconi anemia, complementation group s",[] +"""GARD:0016265""","amyotrophic lateral sclerosis, susceptibility to, 24",[] +"""GARD:0016266""","leukodystrophy, hypomyelinating, 14",[] +"""GARD:0016267""","encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8",['herpes simplex encephalitis; susceptibility to; 6'] +"""GARD:0016268""","microcephaly 20, primary, autosomal recessive",[] +"""GARD:0016269""","epilepsy, juvenile myoclonic, susceptibility to, 10",[] +"""GARD:0016270""",developmental and epileptic encephalopathy 60,['epileptic encephalopathy; early infantile; 60'] +"""GARD:0016271""",developmental and epileptic encephalopathy 62,['epileptic encephalopathy; early infantile; 62'] +"""GARD:0016272""",shwachman-diamond syndrome 2,[] +"""GARD:0016273""",elliptocytosis 3,[] +"""GARD:0016274""",spermatogenic failure 25,[] +"""GARD:0016275""","rh-null, amorph type",[] +"""GARD:0016276""","methemoglobinemia, beta type",[] +"""GARD:0016277""","methemoglobinemia, alpha type",[] +"""GARD:0016278""","microcephaly 21, primary, autosomal recessive",[] +"""GARD:0016279""","microcephaly 22, primary, autosomal recessive",[] +"""GARD:0016280""","microcephaly 23, primary, autosomal recessive",[] +"""GARD:0016281""","tumoral calcinosis, hyperphosphatemic, familial, 2",[] +"""GARD:0016282""","tumoral calcinosis, hyperphosphatemic, familial, 3",[] +"""GARD:0016283""",developmental and epileptic encephalopathy 65,['epileptic encephalopathy; early infantile; 65'] +"""GARD:0016284""",hyperekplexia 4,[] +"""GARD:0016285""",developmental and epileptic encephalopathy 93,[] +"""GARD:0016286""",tetraamelia syndrome 2,['tetraamelia syndrome 2 with pulmonary agenesis'] +"""GARD:0016287""",coffin-siris syndrome 7,[] +"""GARD:0016288""","ciliary dyskinesia, primary, 38",['ciliary dyskinesia; primary; 38; with or without situs inversus'] +"""GARD:0016289""","pontocerebellar hypoplasia, type 1d",[] +"""GARD:0016290""",spermatogenic failure 28,[] +"""GARD:0016291""",spermatogenic failure 30,[] +"""GARD:0016292""",spermatogenic failure 32,[] +"""GARD:0016293""","polydactyly, postaxial, type a8",[] +"""GARD:0016294""","muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8","['muscular dystrophy-dystroglycanopathy; limb-girdle; pomgnt2-related', 'muscular dystrophy; limb-girdle; autosomal recessive 24']" +"""GARD:0016295""",developmental and epileptic encephalopathy 67,['epileptic encephalopathy; early infantile; 67'] +"""GARD:0016296""",hennekam lymphangiectasia-lymphedema syndrome 3,[] +"""GARD:0016297""",joubert syndrome 35,[] +"""GARD:0016298""",retinitis pigmentosa 83,[] +"""GARD:0016299""","nephrotic syndrome, type 17",[] +"""GARD:0016300""","nephrotic syndrome, type 18",[] +"""GARD:0016301""","nephrotic syndrome, type 19",[] +"""GARD:0016302""","microcephaly 24, primary, autosomal recessive",[] +"""GARD:0016303""",periventricular nodular heterotopia 8,[] +"""GARD:0016304""","hyperparathyroidism, transient neonatal",[] +"""GARD:0016305""","cardiomyopathy, dilated, 2c",[] +"""GARD:0016306""",intellectual developmental disorder and retinitis pigmentosa,[] +"""GARD:0016307""",capillary malformation-arteriovenous malformation 2,[] +"""GARD:0016308""","myasthenic syndrome, congenital, 23, presynaptic",[] +"""GARD:0016309""","myasthenic syndrome, congenital, 24, presynaptic",[] +"""GARD:0016310""",developmental and epileptic encephalopathy 68,['epileptic encephalopathy; early infantile; 68'] +"""GARD:0016311""",retinitis pigmentosa 84,[] +"""GARD:0016312""","mitochondrial complex i deficiency, nuclear type 2",[] +"""GARD:0016313""","mitochondrial complex i deficiency, nuclear type 3",[] +"""GARD:0016314""","mitochondrial complex i deficiency, nuclear type 4",[] +"""GARD:0016315""","mitochondrial complex i deficiency, nuclear type 5",[] +"""GARD:0016316""","mitochondrial complex i deficiency, nuclear type 6",[] +"""GARD:0016317""","mitochondrial complex i deficiency, nuclear type 7",[] +"""GARD:0016318""","mitochondrial complex i deficiency, nuclear type 8",[] +"""GARD:0016319""","mitochondrial complex i deficiency, nuclear type 9",[] +"""GARD:0016320""","mitochondrial complex i deficiency, nuclear type 10",[] +"""GARD:0016321""","mitochondrial complex i deficiency, nuclear type 11",[] +"""GARD:0016322""","mitochondrial complex i deficiency, nuclear type 14",[] +"""GARD:0016323""","mitochondrial complex i deficiency, nuclear type 15",[] +"""GARD:0016324""","mitochondrial complex i deficiency, nuclear type 16",[] +"""GARD:0016325""","mitochondrial complex i deficiency, nuclear type 18",[] +"""GARD:0016326""","mitochondrial complex i deficiency, nuclear type 19",[] +"""GARD:0016327""","mitochondrial complex i deficiency, nuclear type 21",[] +"""GARD:0016328""","mitochondrial complex i deficiency, nuclear type 24",[] +"""GARD:0016329""","mitochondrial complex i deficiency, nuclear type 25",[] +"""GARD:0016330""","mitochondrial complex i deficiency, nuclear type 29",[] +"""GARD:0016331""","mitochondrial complex i deficiency, nuclear type 31",[] +"""GARD:0016332""","mitochondrial complex i deficiency, nuclear type 33",[] +"""GARD:0016333""",mirror movements 4,[] +"""GARD:0016334""","epidermodysplasia verruciformis, susceptibility to, 3",[] +"""GARD:0016335""",hypotrichosis 14,[] +"""GARD:0016336""",developmental and epileptic encephalopathy 70,['epileptic encephalopathy; early infantile; 70'] +"""GARD:0016337""","epidermodysplasia verruciformis, susceptibility to, 5",[] +"""GARD:0016338""",diamond-blackfan anemia 18,[] +"""GARD:0016339""",diamond-blackfan anemia 19,[] +"""GARD:0016340""",diamond-blackfan anemia 20,[] +"""GARD:0016341""","myasthenic syndrome, congenital, 25, presynaptic",[] +"""GARD:0016342""",retinitis pigmentosa 85,[] +"""GARD:0016343""",galloway-mowat syndrome 6,[] +"""GARD:0016344""",galloway-mowat syndrome 7,[] +"""GARD:0016345""",galloway-mowat syndrome 8,[] +"""GARD:0016346""","microcephaly 25, primary, autosomal recessive",[] +"""GARD:0016347""",coffin-siris syndrome 8,[] +"""GARD:0016348""","spondyloepimetaphyseal dysplasia with joint laxity, type 3",[] +"""GARD:0016349""",developmental and epileptic encephalopathy 74,['epileptic encephalopathy; early infantile; 74'] +"""GARD:0016350""",cataract 48,[] +"""GARD:0016351""","arthrogryposis, distal, type 2b2",[] +"""GARD:0016352""",developmental and epileptic encephalopathy 75,['epileptic encephalopathy; early infantile; 75'] +"""GARD:0016353""","ciliary dyskinesia, primary, 41",[] +"""GARD:0016354""",paragangliomas 6,[] +"""GARD:0016355""",developmental and epileptic encephalopathy 76,"['developmental delay; epileptic encephalopathy; cerebral atrophy; and abnormal myelination', 'epileptic encephalopathy; early infantile; 76']" +"""GARD:0016356""",paragangliomas 7,[] +"""GARD:0016357""",noonan syndrome 11,[] +"""GARD:0016358""",coffin-siris syndrome 10,[] +"""GARD:0016359""",leber congenital amaurosis 19,[] +"""GARD:0016360""",immunodeficiency 64,[] +"""GARD:0016361""","ectodermal dysplasia 15, hypohidrotic/hair type",[] +"""GARD:0016362""","trichothiodystrophy 7, nonphotosensitive",[] +"""GARD:0016363""",multiple congenital anomalies-hypotonia-seizures syndrome 4,"['developmental and epileptic encephalopathy 77', 'glycosylphosphatidylinositol biosynthesis defect 19', 'epileptic encephalopathy; early infantile; 77']" +"""GARD:0016364""","night blindness, congenital stationary, type1i",[] +"""GARD:0016365""",developmental and epileptic encephalopathy 78,['epileptic encephalopathy; early infantile; 78'] +"""GARD:0016366""",developmental and epileptic encephalopathy 79,['epileptic encephalopathy; early infantile; 79'] +"""GARD:0016367""","intellectual developmental disorder, autosomal dominant 60, with seizures",['mental retardation; autosomal dominant 60; with seizures'] +"""GARD:0016368""",retinitis pigmentosa 86,[] +"""GARD:0016369""",noonan syndrome 12,[] +"""GARD:0016370""","usher syndrome, type 1m",[] +"""GARD:0016371""",zimmermann-laband syndrome 3,[] +"""GARD:0016372""",sitosterolemia 2,[] +"""GARD:0016373""","ciliary dyskinesia, primary, 42",['ciliary dyskinesia; primary; 42; without situs inversus'] +"""GARD:0016374""",retinitis pigmentosa 87 with choroidal involvement,[] +"""GARD:0016375""","neutropenia, severe congenital, 8, autosomal dominant","['neutropenia; severe congenital; 8; autosomal dominant; with or without pancreatic dysfunction and/or neurologic abnormalities', 'shwachman-diamond syndrome-like']" +"""GARD:0016376""",joubert syndrome 36,[] +"""GARD:0016377""","mitochondrial complex iii deficiency, nuclear type 10",[] +"""GARD:0016378""","mitochondrial complex i deficiency, nuclear type 34",[] +"""GARD:0016379""",coffin-siris syndrome 11,[] +"""GARD:0016380""","ciliary dyskinesia, primary, 44",['ciliary dyskinesia; primary; 44; without situs inversus'] +"""GARD:0016381""",imagawa-matsumoto syndrome,[] +"""GARD:0016382""",juvenile arthritis,[] +"""GARD:0016383""","ciliary dyskinesia, primary, 45",['ciliary dyskinesia; primary; 45; without situs inversus'] +"""GARD:0016384""","basal ganglia calcification, idiopathic, 8, autosomal recessive",[] +"""GARD:0016385""",retinitis pigmentosa 88,[] +"""GARD:0016386""",alopecia-intellectual disability syndrome 4,['alopecia-mental retardation syndrome 4'] +"""GARD:0016387""",hypogonadotropic hypogonadism 25 with anosmia,[] +"""GARD:0016388""","diabetes mellitus, permanent neonatal, 2",[] +"""GARD:0016389""","diabetes mellitus, permanent neonatal, 3",[] +"""GARD:0016390""","diabetes mellitus, permanent neonatal, 4",[] +"""GARD:0016391""",developmental and epileptic encephalopathy 86,['epileptic encephalopathy; early infantile; 86'] +"""GARD:0016392""",fanconi renotubular syndrome 5,['fanconi renotubular syndrome; acadian variant'] +"""GARD:0016393""",developmental and epileptic encephalopathy 87,['epileptic encephalopathy; early infantile; 87'] +"""GARD:0016394""",periventricular nodular heterotopia 9,[] +"""GARD:0016395""","granulomatous disease, chronic, autosomal recessive, 5",['granulomatous disease; chronic; due to cybc1 deficiency'] +"""GARD:0016396""",treacher collins syndrome 4,[] +"""GARD:0016397""",oculopharyngodistal myopathy 2,[] +"""GARD:0016398""",developmental and epileptic encephalopathy 88,['epileptic encephalopathy; early infantile; 88'] +"""GARD:0016399""",optic atrophy 12,[] +"""GARD:0016400""",immune dysregulation and systemic hyperinflammation syndrome,['hemophagocytic lymphohistiocytosis; familial; 6; formerly'] +"""GARD:0016401""","mitochondrial complex i deficiency, nuclear type 35",[] +"""GARD:0016402""",ifap syndrome 2,['ichthyosis follicularis; atrichia; and photophobia syndrome 2'] +"""GARD:0016403""","coenzyme q10 deficiency, primary, 9",[] +"""GARD:0016404""","mitochondrial complex iv deficiency, nuclear type 3",[] +"""GARD:0016405""","mitochondrial complex iv deficiency, nuclear type 4",[] +"""GARD:0016406""","mitochondrial complex iv deficiency, nuclear type 7",[] +"""GARD:0016407""","mitochondrial complex iv deficiency, nuclear type 8",[] +"""GARD:0016408""","mitochondrial complex iv deficiency, nuclear type 10",[] +"""GARD:0016409""","mitochondrial complex iv deficiency, nuclear type 11",[] +"""GARD:0016410""","mitochondrial complex iv deficiency, nuclear type 12",[] +"""GARD:0016411""","mitochondrial complex iv deficiency, nuclear type 14",[] +"""GARD:0016412""","mitochondrial complex iv deficiency, nuclear type 15",[] +"""GARD:0016413""","mitochondrial complex iv deficiency, nuclear type 16",[] +"""GARD:0016414""","mitochondrial complex iv deficiency, nuclear type 17",[] +"""GARD:0016415""","mitochondrial complex iv deficiency, nuclear type 18",[] +"""GARD:0016416""","mitochondrial complex iv deficiency, nuclear type 19",[] +"""GARD:0016417""","mitochondrial complex iv deficiency, nuclear type 20",[] +"""GARD:0016418""","mitochondrial complex iv deficiency, nuclear type 21",[] +"""GARD:0016419""",noonan syndrome 13,[] +"""GARD:0016420""",spermatogenic failure 48,[] +"""GARD:0016421""","arthrogryposis, distal, type 1c",[] +"""GARD:0016422""",coach syndrome 2,[] +"""GARD:0016423""",coach syndrome 3,[] +"""GARD:0016424""",developmental and epileptic encephalopathy 89,[] +"""GARD:0016425""",amyotrophic lateral sclerosis 26 with or without frontotemporal dementia,[] +"""GARD:0016426""",ritscher-schinzel syndrome 3,[] +"""GARD:0016427""",frontotemporal dementia and/or amyotrophic lateral sclerosis 5,[] +"""GARD:0016428""","nephrotic syndrome, type 22",[] +"""GARD:0016429""","mitochondrial complex ii deficiency, nuclear type 2",[] +"""GARD:0016430""","mitochondrial complex ii deficiency, nuclear type 3",[] +"""GARD:0016431""","mitochondrial complex i deficiency, nuclear type 36",[] +"""GARD:0016432""","microcephaly 26, primary, autosomal dominant",[] +"""GARD:0016433""","microcephaly 27, primary, autosomal dominant",[] +"""GARD:0016434""",joubert syndrome 37,[] +"""GARD:0016435""","nephrotic syndrome, type 23",[] +"""GARD:0016436""",spermatogenic failure 52,[] +"""GARD:0016437""",olmsted syndrome 2,['palmoplantar keratoderma; mutilating; with periorificial keratotic plaques 2'] +"""GARD:0016438""","mitochondrial complex ii deficiency, nuclear type 4",[] +"""GARD:0016439""",glanzmann thrombasthenia 2,['bleeding disorder; platelet-type; 23'] +"""GARD:0016440""","mitochondrial complex i deficiency, nuclear type 37",[] +"""GARD:0016441""","pontocerebellar hypoplasia, type 1e",[] +"""GARD:0016442""","pontocerebellar hypoplasia, type 1f",[] +"""GARD:0016443""",coffin-siris syndrome 12,[] +"""GARD:0016444""",bartsocas-papas syndrome 2,['popliteal pterygium syndrome; bartsocas-papas type 2'] +"""GARD:0016445""",developmental and epileptic encephalopathy 96,[] +"""GARD:0016446""",visceral myopathy 2,[] +"""GARD:0016447""",megacystis-microcolon-intestinal hypoperistalsis syndrome 2,[] +"""GARD:0016448""","mitochondrial complex iv deficiency, nuclear type 22",[] +"""GARD:0016449""",cone dystrophy 4,[] +"""GARD:0016450""",cowden syndrome 1,"['ruvalcaba-myhre-smith syndrome', 'macrocephaly; multiple lipomas; and hemangiomata', 'multiple hamartoma syndrome', 'riley-smith syndrome', 'pten hamartoma tumor syndrome with granular cell tumor', 'macrocephaly; pseudopapilledema; and multiple hemangiomata', 'cs', 'bannayan-zonana syndrome']" +"""GARD:0016451""",desbuquois dysplasia 1,['micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification'] +"""GARD:0016452""","xeroderma pigmentosum, complementation group d","['xp; group d', 'xp; group h; formerly', 'xeroderma pigmentosum iv', 'xp4 xeroderma pigmentosum viii; formerly']" +"""GARD:0016453""",lymphatic malformation 2,[] +"""GARD:0016454""","intellectual developmental disorder, autosomal dominant 3",['mental retardation; autosomal dominant 3'] +"""GARD:0016455""","intellectual developmental disorder, autosomal dominant 4",[] +"""GARD:0016456""",lymphatic malformation 3,['lymphedema; hereditary; ic; formerly'] +"""GARD:0016457""","ichthyosis, congenital, autosomal recessive 8","['lamellar ichthyosis; late-onset', 'ichthyosis; lamellar; 4; formerly']" +"""GARD:0016458""","intellectual developmental disorder, autosomal dominant 2",[] +"""GARD:0016459""",nescav syndrome,"['neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment', 'mental retardation; autosomal dominant 9; formerly']" +"""GARD:0016460""","intellectual developmental disorder, autosomal dominant 10",['mental retardation; autosomal dominant 10'] +"""GARD:0016461""",chromosome 20q11-q12 deletion syndrome,"['mental retardation; autosomal dominant 11; included', 'intellectual developmental disorder; autosomal dominant 11; included']" +"""GARD:0016462""","intellectual developmental disorder, autosomal dominant 13","['mental retardation; autosomal dominant 13; with neuronal migration defects', 'mental retardation; autosomal dominant 13']" +"""GARD:0016463""",cowden syndrome 4,[] +"""GARD:0016464""",cowden syndrome 5,[] +"""GARD:0016465""",cowden syndrome 6,[] +"""GARD:0016466""",desbuquois dysplasia 2,['baratela-scott syndrome'] +"""GARD:0016467""",vulto-van silfhout-de vries syndrome,"['intellectual developmental disorder with impaired expressive speech and behavioral abnormalities; with or without seizures', 'mental retardation; autosomal dominant 24']" +"""GARD:0016468""",lymphatic malformation 4,['lymphedema; hereditary; id; formerly'] +"""GARD:0016469""","intellectual developmental disorder, autosomal dominant 38","['mental retardation; autosomal dominant 38', 'psychomotor retardation; epilepsy; and language disability syndrome']" +"""GARD:0016470""",cowden syndrome 7,[] +"""GARD:0016471""","ichthyosis, congenital, autosomal recessive 14",[] +"""GARD:0016472""","intellectual developmental disorder, autosomal dominant 52",['mental retardation; autosomal dominant 52'] +"""GARD:0016473""","intellectual developmental disorder, autosomal dominant 53",['mental retardation; autosomal dominant 53'] +"""GARD:0016474""","intellectual developmental disorder, autosomal dominant 54",['mental retardation; autosomal dominant 54'] +"""GARD:0016475""","intellectual developmental disorder, autosomal recessive 63",['mental retardation; autosomal recessive 63'] +"""GARD:0016476""","intellectual developmental disorder, autosomal dominant 58",['mental retardation; autosomal dominant 58'] +"""GARD:0016477""",global developmental delay with or without impaired intellectual development,[] +"""GARD:0016478""","intellectual developmental disorder, autosomal dominant 64",['mental retardation; autosomal dominant 64'] +"""GARD:0016479""",mitochondrial dna-related progressive external ophthalmoplegia,"['maternally-inherited cpeo', 'maternally-inherited chronic progressive external ophthalmoplegia', 'mtdna-related progressive external ophthalmoplegia']" +"""GARD:0016480""",sorsby pseudoinflammatory fundus dystrophy,[] +"""GARD:0016481""",methylmalonic aciduria due to transcobalamin receptor defect,"['methylmalonic acidemia; tcb1r type', 'methylmalonic acidemia; tcbir type']" +"""GARD:0016482""",rieger anomaly,[] +"""GARD:0016483""",infantile liver failure syndrome 3,[] +"""GARD:0016484""",anterior segment developmental anomaly without extraocular manifestations,[] +"""GARD:0016485""",axenfeld anomaly,[] +"""GARD:0016486""",autosomal dominant progressive external ophthalmoplegia,['adpeo'] +"""GARD:0016487""",c3 glomerulonephritis,[] +"""GARD:0016489""",complement component 3 deficiency,['c3 deficiency'] +"""GARD:0016490""",primary early-onset glaucoma,[] +"""GARD:0016491""","aortic aneurysm, familial abdominal, 1",[] +"""GARD:0016492""","aortic aneurysm, familial abdominal, 2",[] +"""GARD:0016493""","aortic aneurysm, familial abdominal, 3",[] +"""GARD:0016494""","aortic aneurysm, familial abdominal, 4",[] +"""GARD:0016495""",fetal akinesia deformation sequence 2,[] +"""GARD:0016496""",fetal akinesia deformation sequence 3,[] +"""GARD:0016497""",fetal akinesia deformation sequence 4,[] +"""GARD:0016498""","progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2",['progressive external ophthalmoplegia; autosomal dominant 2'] +"""GARD:0016499""","progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3",['progressive external ophthalmoplegia; autosomal dominant 3'] +"""GARD:0016500""","progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4",['progressive external ophthalmoplegia; autosomal dominant 4'] +"""GARD:0016501""","progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5",['progressive external ophthalmoplegia; autosomal dominant 5'] +"""GARD:0016502""",otofaciocervical syndrome 1,['ofc'] +"""GARD:0016503""","otofaciocervical syndrome 2, with t-cell deficiency",['ofc2'] +"""GARD:0016504""","seizures, benign familial infantile, 2",['convulsions; benign familial infantile; 2'] +"""GARD:0016505""","seizures, benign familial infantile, 4",[] +"""GARD:0016506""","seizures, benign familial infantile, 5",['convulsions; benign familial infantile; 5'] +"""GARD:0016507""",alzheimer disease 5,[] +"""GARD:0016508""","alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology",[] +"""GARD:0016509""",alzheimer disease 6,[] +"""GARD:0016510""",alzheimer disease 7,[] +"""GARD:0016511""",alzheimer disease 4,"['ad4', 'alzheimer disease; familial; 4']" +"""GARD:0016512""",alzheimer disease 8,[] +"""GARD:0016513""",alzheimer disease 3,"['alzheimer disease; familial; 3', 'alzheimer disease 3; early-onset']" +"""GARD:0016514""",alzheimer disease 10,[] +"""GARD:0016515""",alzheimer disease 11,[] +"""GARD:0016516""",alzheimer disease 12,[] +"""GARD:0016517""",alzheimer disease 13,[] +"""GARD:0016518""",alzheimer disease 14,[] +"""GARD:0016519""",septooptic dysplasia,['de morsier syndrome'] +"""GARD:0016520""","pituitary hormone deficiency, combined, 6",[] +"""GARD:0016521""","seizures, benign familial infantile, 3","['seizures; benign familial neonatal-infantile', 'convulsions; benign familial infantile; 3']" +"""GARD:0016522""",citrullinemia,[] +"""GARD:0016523""",glycogen storage disease due to glucose-6-phosphatase deficiency,"['g6p deficiency', 'gsd due to g6p deficiency', 'gsd type 1', 'gsd type i', 'glycogen storage disease due to g6p deficiency', 'glycogen storage disease type 1', 'glycogen storage disease type i', 'glycogenosis type 1', 'glycogenosis type i', 'hepatorenal glycogenosis', 'von gierke disease']" +"""GARD:0016524""",focal facial dermal dysplasia type i,"['bitemporal aplasia cutis congenita', 'brauer syndrome', 'ffdd type i', 'ffdd1', 'focal facial dermal dysplasia 1; brauer type', 'focal facial dermal dysplasia type 1']" +"""GARD:0016526""",crigler-najjar syndrome,"['bilirubin uridinediphosphate glucuronosyltransferase deficiency', 'bilirubin-ugt deficiency']" +"""GARD:0016527""",ependymal tumor,[] +"""GARD:0016528""",erythrokeratodermia variabilis,"['ekv', 'erythrokeratodermia variabilis; mendes da costa type']" +"""GARD:0016529""",classic hodgkin lymphoma,['classic hodgkin disease'] +"""GARD:0016530""",primary hyperoxaluria,[] +"""GARD:0016531""",idiopathic/heritable pulmonary arterial hypertension,['idiopathic and/or familial pulmonary arterial hypertension'] +"""GARD:0016532""",familial hypoaldosteronism,[] +"""GARD:0016533""",normosmic congenital hypogonadotropic hypogonadism,"['normosmic idiopathic hypogonadotropic hypogonadism', 'nihh']" +"""GARD:0016534""",non-syndromic anorectal malformation,['non-syndromic arm'] +"""GARD:0016535""",marfan syndrome,['mfs'] +"""GARD:0016536""",multiminicore myopathy,"['mmd', 'multiminicore disease']" +"""GARD:0016537""",homocystinuria without methylmalonic aciduria,"['functional methionine synthase deficiency', 'methylcobalamin deficiency']" +"""GARD:0016538""",short stature due to isolated growth hormone deficiency with x-linked hypogammaglobulinemia,[] +"""GARD:0016539""",lcat deficiency,['lecithin-cholesterol acyltransferase deficiency'] +"""GARD:0016540""",omphalocele,[] +"""GARD:0016541""",hemolytic anemia due to glucophosphate isomerase deficiency,[] +"""GARD:0016542""",porokeratosis plantaris palmaris et disseminata,['palmar; plantar and disseminated porokeratosis'] +"""GARD:0016543""",severe hereditary thrombophilia due to congenital protein s deficiency,['autosomal recessive thrombophilia due to congenital protein s deficiency'] +"""GARD:0016544""",severe hereditary thrombophilia due to congenital protein c deficiency,"['autosomal recessive thrombophilia due to pc deficiency', 'autosomal recessive thrombophilia due to congenital protein c deficiency']" +"""GARD:0016545""",pseudohypoaldosteronism type 1,"['pha type 1', 'pha1']" +"""GARD:0016546""",central precocious puberty,"['cpp', 'gonadotropin-dependant precocious puberty']" +"""GARD:0016547""",familial long qt syndrome,"['congenital long qt syndrome', 'lqts']" +"""GARD:0016548""",estrogen resistance syndrome,[] +"""GARD:0016549""",encephalopathy due to sulfite oxidase deficiency,[] +"""GARD:0016550""",lown-ganong-levine syndrome,"['atrial tachyarrhythmia with short pr interval', 'lgl syndrome']" +"""GARD:0016551""",acro-renal-ocular syndrome,[] +"""GARD:0016552""",testicular regression syndrome,"['etrs', 'embryonic testicular regression syndrome', 'trs', 'vanishing testes syndrome', 'vanishing testis syndrome', 'xy gonadal agenesis syndrome']" +"""GARD:0016553""",alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,['devriendt-vandenberghe-fryns syndrome'] +"""GARD:0016554""",autosomal recessive amelia,[] +"""GARD:0016555""",microlissencephaly,[] +"""GARD:0016556""",sheldon-hall syndrome,"['distal arthrogryposis type 2b', 'freeman-sheldon syndrome variant']" +"""GARD:0016557""",congenital unilateral hypoplasia of depressor anguli oris,['isolated asymmetric crying facies'] +"""GARD:0016558""",x-linked progressive cerebellar ataxia,[] +"""GARD:0016559""",ataxia-tapetoretinal degeneration syndrome,[] +"""GARD:0016560""",spastic ataxia with congenital miosis,"['autosomal dominant spastic ataxia type 7', 'spax7']" +"""GARD:0016561""",tmem70-related mitochondrial encephalo-cardio-myopathy,"['mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency', 'mitochondrial encephalo-cardio-myopathy due to isolated atp synthase deficiency', 'mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v deficiency']" +"""GARD:0016562""",brachytelephalangy-dysmorphism-kallmann syndrome,[] +"""GARD:0016563""",hyperkeratosis-hyperpigmentation syndrome,[] +"""GARD:0016564""",atrial standstill,['atrial cardiomyopathy with heart block'] +"""GARD:0016565""",chondrodysplasia-disorder of sex development syndrome,['nivelon-nivelon-mabille syndrome'] +"""GARD:0016566""",atrial septal defect-atrioventricular conduction defects syndrome,[] +"""GARD:0016567""",cooper-jabs syndrome,['aural atresia-multiple congenital anomalies-intellectual disability syndrome'] +"""GARD:0016568""",autosomal recessive robinow syndrome,"['covesdem syndrome', 'costovertebral segmentation defect-mesomelia syndrome', 'rrs']" +"""GARD:0016569""",fatal infantile cytochrome c oxidase deficiency,"['fatal infantile cox deficiency', 'fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency']" +"""GARD:0016570""",monosomy 13q14,"['del(13)(q14)', 'deletion 13q14']" +"""GARD:0016571""",distal monosomy 13q,"['13q32 deletion', 'deletion 13q32', 'distal 13q deletion', 'monosomy 13q32', 'telomeric deletion13q']" +"""GARD:0016572""",distal monosomy 15q,"['15q26 deletion syndrome', 'distal 15q deletion syndrome', 'monosomy 15q26', 'telomeric 15q deletion syndrome']" +"""GARD:0016573""",3q13 microdeletion syndrome,"['del(3)(q13)', 'monosomy 3q13']" +"""GARD:0016574""",partial chromosome y deletion,['male sterility due to chromosome y deletion'] +"""GARD:0016575""",dentin dysplasia,['dd'] +"""GARD:0016576""",chronic diarrhea with villous atrophy,[] +"""GARD:0016577""",arterial dissection-lentiginosis syndrome,[] +"""GARD:0016578""",ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome,[] +"""GARD:0016579""","renal agenesis, bilateral",[] +"""GARD:0016580""",diabetic embryopathy,[] +"""GARD:0016581""",early myoclonic encephalopathy,['early myoclonic encephalopathy with suppression-bursts'] +"""GARD:0016582""",hereditary gingival fibromatosis,"['autosomal dominant gingival fibromatosis', 'autosomal dominant gingival hyperplasia', 'hereditary gingival hyperplasia']" +"""GARD:0016583""",juvenile hyaline fibromatosis,"['murray-puretic-drescher syndrome', 'puretic syndrome']" +"""GARD:0016584""",x-linked intellectual disability-epilepsy syndrome,[] +"""GARD:0016585""","46,xx ovotesticular disorder of sex development",['46;xx ovotesticular dsd'] +"""GARD:0016586""",nodular neuronal heterotopia,[] +"""GARD:0016587""",idiopathic hypercalciuria,[] +"""GARD:0016588""",primary hypergonadotropic hypogonadism-partial alopecia syndrome,['al awadi-farag-teebi syndrome'] +"""GARD:0016589""",familial isolated hypoparathyroidism due to agenesis of parathyroid gland,[] +"""GARD:0016590""",hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,"['bosma arhinia-microphthalmia syndrome', 'bosma-henkin-christiansen syndrome']" +"""GARD:0016591""",primary pulmonary hypoplasia,[] +"""GARD:0016592""",congenital short bowel syndrome,[] +"""GARD:0016593""",absence deformity of leg-cataract syndrome,[] +"""GARD:0016594""",kenny-caffey syndrome,['kenny syndrome'] +"""GARD:0016595""",larsen-like osseous dysplasia-short stature syndrome,[] +"""GARD:0016596""",congenital laryngeal web,[] +"""GARD:0016597""",laryngeal abductor paralysis-intellectual disability syndrome,['plott syndrome'] +"""GARD:0016598""",macrocephaly-spastic paraplegia-dysmorphism syndrome,['fryns macrocephaly'] +"""GARD:0016599""",congenital macroglossia,[] +"""GARD:0016600""",mucocutaneous venous malformations,"['cutaneous and mucosal venous malformation', 'vmcm']" +"""GARD:0016601""",megalencephaly,['macroencephaly'] +"""GARD:0016602""",upper limb defect-eye and ear abnormalities syndrome,[] +"""GARD:0016603""",autosomal recessive chorioretinopathy-microcephaly syndrome,['autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome'] +"""GARD:0016604""",hypomyelination neuropathy-arthrogryposis syndrome,[] +"""GARD:0016605""",adult idiopathic neutropenia,['adult chronic idiopathic neutropenia'] +"""GARD:0016606""",oculo-palato-cerebral syndrome,['oculo-palato-cerebral dwarfism'] +"""GARD:0016607""",oculotrichodysplasia,['cecato de lima-pinheiro syndrome'] +"""GARD:0016608""",omodysplasia,[] +"""GARD:0016609""",familial recurrent peripheral facial palsy,['familial recurrent bell palsy'] +"""GARD:0016610""",young-onset parkinson disease,"['early-onset parkinson disease', 'yopd']" +"""GARD:0016611""",pelvis-shoulder dysplasia,"['kosenow syndrome', 'scapuloiliac dysostosis']" +"""GARD:0016612""",short stature-valvular heart disease-characteristic facies syndrome,[] +"""GARD:0016613""",phosphoenolpyruvate carboxykinase deficiency,['pepck deficiency'] +"""GARD:0016614""",postaxial polydactyly-dental and vertebral anomalies syndrome,[] +"""GARD:0016615""",absent thumb-short stature-immunodeficiency syndrome,[] +"""GARD:0016616""",leukocyte adhesion deficiency,['lad'] +"""GARD:0016617""","46,xx disorder of sex development-skeletal anomalies syndrome",[] +"""GARD:0016618""","blepharophimosis-intellectual disability syndrome, sbbys type","['hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome', 'sbbys variant of ohdo syndrome', 'sbbyss', 'say-barber-biesecker-young-simpson syndrome']" +"""GARD:0016619""",fixed subaortic stenosis,[] +"""GARD:0016620""",autosomal dominant robinow syndrome,[] +"""GARD:0016621""",alpha-n-acetylgalactosaminidase deficiency,"['naga deficiency', 'schindler disease']" +"""GARD:0016622""",x-linked spasticity-intellectual disability-epilepsy syndrome,[] +"""GARD:0016623""",congenital pulmonary valvar stenosis,['congenital stenosis of pulmonary valve'] +"""GARD:0016624""",deafness-onychodystrophy syndrome,['hearing loss-onychodystrophy syndrome'] +"""GARD:0016625""",idiopathic hypereosinophilic syndrome,[] +"""GARD:0016626""",non-syndromic metopic craniosynostosis,"['isolated metopic craniosynostosis', 'isolated trigonocephaly', 'non-syndromic metopic suture synostosis']" +"""GARD:0016627""",truncus arteriosus,"['common aorticopulmonary trunk', 'common arterial trunk', 'tac']" +"""GARD:0016628""",hereditary xanthinuria,"['classic xanthinuria', 'xanthic urolithiasis', 'xanthine stone disease']" +"""GARD:0016629""",hereditary central diabetes insipidus,"['hereditary cdi', 'hereditary neurogenic diabetes insipidus']" +"""GARD:0016630""",neuroectodermal melanolysosomal disease,['elejalde disease'] +"""GARD:0016631""",glutamate-cysteine ligase deficiency,['gamma-glutamylcysteine synthetase deficiency'] +"""GARD:0016632""",t-b+ severe combined immunodeficiency due to jak3 deficiency,['t-b+ scid due to jak3 deficiency'] +"""GARD:0016633""",non-syndromic sagittal craniosynostosis,"['isolated sagittal craniosynostosis', 'isolated scaphocephaly', 'non-syndromic sagittal suture synostosis']" +"""GARD:0016634""",non-syndromic bicoronal craniosynostosis,"['isolated bicoronal craniosynostosis', 'isolated brachycephaly', 'non-syndromic bilateral coronal suture synostosis']" +"""GARD:0016635""",hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,"['p5n deficiency', 'umph1 deficiency', ""uridine 5'-monophosphate hydrolase deficiency""]" +"""GARD:0016636""",lysosomal acid phosphatase deficiency,[] +"""GARD:0016637""",nanophthalmos,['nanophthalmia'] +"""GARD:0016638""",aldh18a1-related de barsy syndrome,"['delta-1-pyrroline 5-carboxylate synthetase deficiency', 'neurocutaneous syndrome; bicknell type', 'p5cs deficiency']" +"""GARD:0016639""",combined deficiency of factor v and factor viii,"['f5f8d', 'fv and fviii combined deficiency']" +"""GARD:0016640""",distal monosomy 1q,"['distal deletion 1q', 'monosomy 1qter', 'telomeric deletion 1q']" +"""GARD:0016641""",episodic ataxia type 1,['episodic ataxia with myokymia'] +"""GARD:0016642""",graft versus host disease,['gvh'] +"""GARD:0016643""",hereditary myopathy with lactic acidosis due to iscu deficiency,"['aconitase deficiency', 'iscu myopathy', 'iron-sulfur cluster deficiency myopathy', 'myopathy with exercise intolerance; swedish type']" +"""GARD:0016644""",proximal renal tubular acidosis,"['renal tubular acidosis type 2', 'prta']" +"""GARD:0016645""",congenital cataracts-facial dysmorphism-neuropathy syndrome,['ccfdn'] +"""GARD:0016646""",lipodystrophy-intellectual disability-deafness syndrome,"['lipodystrophy-intellectual disability-hearing loss syndrome', 'rajab-spranger syndrome']" +"""GARD:0016647""",craniolenticulosutural dysplasia,['boyadjiev-jabs syndrome'] +"""GARD:0016648""",branchiogenic deafness syndrome,"['branchiogenic hearing loss syndrome', 'mégarbané-loiselet syndrome']" +"""GARD:0016649""",schöpf-schulz-passarge syndrome,"['eccrine tumors-ectodermal dysplasia', 'keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome', 'palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome', 'palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome', 'ssps']" +"""GARD:0016650""",familial short qt syndrome,['sqts'] +"""GARD:0016651""",torsade-de-pointes syndrome with short coupling interval,[] +"""GARD:0016652""",braddock syndrome,['vater-like syndrome with pulmonary hypertension; abnormal ears and growth deficiency'] +"""GARD:0016653""",craniosynostosis-intracranial calcifications syndrome,['longman-tolmie syndrome'] +"""GARD:0016654""",ulnar/fibula ray defect-brachydactyly syndrome,['morava-mehes syndrome'] +"""GARD:0016655""",retinitis punctata albescens,['rpa'] +"""GARD:0016656""",paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,"['dyt9', 'episodic choreoathetosis/spasticity']" +"""GARD:0016657""",congenital cornea plana,[] +"""GARD:0016658""",arthrogryposis-anterior horn cell disease syndrome,"['aahd', 'vuopala disease']" +"""GARD:0016659""",thrombotic thrombocytopenic purpura,"['moschcowitz disease', 'ttp']" +"""GARD:0016660""",adamantinoma,['adamantinoma of long bones'] +"""GARD:0016661""",schilder disease,['myelinoclastic diffuse sclerosis'] +"""GARD:0016662""",enlarged parietal foramina,"['catlin marks', 'fenestrae parietales symmetricae', 'foramina parietalia permagna', 'hereditary cranium bifidum', 'symmetric parietal foramina']" +"""GARD:0016663""",pulmonary nodular lymphoid hyperplasia,['pulmonary pseudolymphoma'] +"""GARD:0016664""",idiopathic bronchiectasis,[] +"""GARD:0016665""",antley-bixler syndrome with genital anomaly and disorder of steroidogenesis,['ambiguous genitalia-disordered steroidogenesis antley-bixler syndrome'] +"""GARD:0016666""",distal myopathy with posterior leg and anterior hand involvement,['distal abd-filaminopathy'] +"""GARD:0016667""",childhood absence epilepsy,['pyknolepsy'] +"""GARD:0016668""",ovarian hyperstimulation syndrome,['ohss'] +"""GARD:0016669""",beta-ureidopropionase deficiency,['beta-alanine synthase deficiency'] +"""GARD:0016670""",permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,['pancreatic and cerebellar agenesis'] +"""GARD:0016671""",isolated focal cortical dysplasia,['epilepsy due to fcd'] +"""GARD:0016672""",arthrogryposis-severe scoliosis syndrome,"['distal arthrogryposis type 4', 'distal arthrogryposis type iid']" +"""GARD:0016673""",congenital pseudoarthrosis of the clavicle,['congenital pseudarthrosis of the clavicle'] +"""GARD:0016674""",diaphanospondylodysostosis,[] +"""GARD:0016675""",hyaluronidase deficiency,"['mps9', 'mpsix', 'mucopolysaccharidosis type 9', 'mucopolysaccharidosis type ix']" +"""GARD:0016676""",thrombocytopenia with congenital dyserythropoietic anemia,"['congenital dyserythropoietic anemia with thombocytopenia', 'x-linked congenital dyserythropoietic anemia with thrombocytopenia', 'xdat']" +"""GARD:0016677""",x-linked intellectual disability with isolated growth hormone deficiency,['mrgh'] +"""GARD:0016678""",idiopathic steroid-sensitive nephrotic syndrome,[] +"""GARD:0016679""",odonto-tricho-ungual-digito-palmar syndrome,"['otudp syndrome', 'odonto-tricho-ungual-digito-palmar syndrome; mendoza-valiente type']" +"""GARD:0016680""",pure hair and nail ectodermal dysplasia,"['hned', 'hair-nail ectodermal dysplasia', 'phned']" +"""GARD:0016681""",anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,['ol-eda-id'] +"""GARD:0016682""",anonychia with flexural pigmentation,[] +"""GARD:0016683""",low phospholipid-associated cholelithiasis,"['abcb4-related cholelithiasis', 'lpac']" +"""GARD:0016684""",bosley-salih-alorainy syndrome,[] +"""GARD:0016685""",leigh syndrome with cardiomyopathy,"['cardiomyopathy with hypotonia due to cytochrome c oxidase deficiency', 'cardiomyopathy with myopathy due to cox deficiency', 'leigh disease with myopathy']" +"""GARD:0016686""",split hand-split foot-deafness syndrome,['split hand-split foot-hearing loss syndrome'] +"""GARD:0016687""",radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,['atrus syndrome'] +"""GARD:0016688""",familial thrombocytosis,"['familial thrombocythemia', 'hereditary thrombocythemia']" +"""GARD:0016689""",obesity due to prohormone convertase i deficiency,['pci deficiency'] +"""GARD:0016690""",obesity due to melanocortin 4 receptor deficiency,['mc4r deficiency'] +"""GARD:0016691""",bleeding diathesis due to a collagen receptor defect,[] +"""GARD:0016692""",familial isolated restrictive cardiomyopathy,['familial or idiopathic restrictive cardiomyopathy'] +"""GARD:0016693""",retinal arterial tortuosity,"['familial isolated retinal arterial tortuosity', 'retinal arteriolar tortuosity', 'retinal hemorrhage with vascular tortuosity', 'tortuosity of retinal arteries']" +"""GARD:0016694""",cystoid macular dystrophy,"['autosomal dominant cystoid macular edema', 'dcmd', 'familial macular edema']" +"""GARD:0016695""",primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,['primary immunodeficiency due to mcm4 deficiency'] +"""GARD:0016696""",juvenile polyposis of infancy,['infantile juvenile polyposis syndrome'] +"""GARD:0016697""",grange syndrome,"['grange occlusive arterial syndrome', 'progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome']" +"""GARD:0016698""",eiken syndrome,[] +"""GARD:0016699""",neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,[] +"""GARD:0016700""",lymphoid interstitial pneumonia,['lymphocytic interstitial pneumonia'] +"""GARD:0016701""",dend syndrome,['developmental delay-epilepsy-neonatal diabetes syndrome'] +"""GARD:0016702""",episodic ataxia type 3,['episodic ataxia-vertigo-tinnitus-myokymia syndrome'] +"""GARD:0016703""",episodic ataxia type 4,"['patx', 'periodic vestibulocerebellar ataxia']" +"""GARD:0016704""",generalized epilepsy-paroxysmal dyskinesia syndrome,['gepd'] +"""GARD:0016705""",hereditary painful callosities,"['keratosis palmoplantaris nummularis', 'ppk nummularis', 'plamoplantar hyperkeratosis nummularis', 'plamoplantar keratoderma nummularis']" +"""GARD:0016706""",familial progressive hyperpigmentation,"['melanosis diffusa congenita', 'melanosis universalis hereditaria', 'universal melanosis']" +"""GARD:0016707""",acrokeratosis verruciformis of hopf,['akv of hopf'] +"""GARD:0016708""",2-aminoadipic 2-oxoadipic aciduria,['alpha-aminoadipic aciduria'] +"""GARD:0016709""",seizures-intellectual disability due to hydroxylysinuria syndrome,[] +"""GARD:0016710""",hypoxanthine guanine phosphoribosyltransferase partial deficiency,"['hprt deficiency; grade i', 'hprt partial deficiency', 'hprt-related gout', 'hprt-related hyperuricemia', 'hprt1 partial deficiency', 'hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency', 'hypoxanthine guanine phosphoribosyltransferase deficiency; grade i', 'kelley-seegmiller syndrome']" +"""GARD:0016711""",glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,"['gsd due to liver and muscle phosphorylase kinase deficiency', 'gsd type 9b', 'gsd type ixb', 'glycogen storage disease type 9b', 'glycogen storage disease type ixb', 'glycogenosis due to liver and muscle phosphorylase kinase deficiency', 'glycogenosis type 9b', 'glycogenosis type ixb']" +"""GARD:0016712""",pyruvate dehydrogenase e2 deficiency,"['dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency', 'dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency', 'pyruvate dehydrogenase complex component e2 deficiency']" +"""GARD:0016713""",congenital bile acid synthesis defect type 3,"['basd3', 'oxysterol 7-alpha-hydroxylase deficiency']" +"""GARD:0016714""",vitamin b12-unresponsive methylmalonic acidemia type mut-,"['partial deficiency of methylmalonyl-coa mutase', 'vitamin b12-unresponsive methylmalonic aciduria type mut-']" +"""GARD:0016715""","chondrodysplasia punctata, tibial-metacarpal type",[] +"""GARD:0016716""","chondrodysplasia punctata, toriello type",['toriello-higgins-miller syndrome'] +"""GARD:0016717""","3-phosphoserine phosphatase deficiency, infantile/juvenile form",['psph deficiency; infantile/juvenile form'] +"""GARD:0016718""","3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form",['phgdh deficiency; infantile/juvenile form'] +"""GARD:0016719""",keratoderma hereditarium mutilans with ichthyosis,"['camisa disease', 'keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome', 'loricrin keratoderma', 'vohwinkel syndrome with ichthyosis']" +"""GARD:0016720""",recessive dystrophic epidermolysis bullosa inversa,"['rdeb inversa', 'rdeb-i']" +"""GARD:0016721""",oculocutaneous albinism type 1a,"['oca1a', 'tyrosinase-negative oculocutaneous albinism']" +"""GARD:0016722""",oculocutaneous albinism type 4,['oca4'] +"""GARD:0016723""",maculopapular cutaneous mastocytosis,['urticaria pigmentosa'] +"""GARD:0016724""",cholesterol-ester transfer protein deficiency,"['cept deficiency', 'familial hyperalphalipoproteinemia']" +"""GARD:0016725""",hypotonia-failure to thrive-microcephaly syndrome,"['ltc4 synthase deficiency', 'leukotriene c4 synthase deficiency']" +"""GARD:0016726""",autosomal recessive hyperinsulinism due to sur1 deficiency,['autosomal recessive hyperinsulinemic hypoglycemia due to sur1 deficiency'] +"""GARD:0016727""",autosomal recessive hyperinsulinism due to kir6.2 deficiency,['autosomal recessive hyperinsulinemic hypoglycemia due to kir6.2 deficiency'] +"""GARD:0016728""",glomuvenous malformation,"['glomangiomatosis', 'hereditary multiple glomangiomas', 'multiple glomus tumors', 'vmglom', 'venous malformations with glomus cells']" +"""GARD:0016729""",enteric anendocrinosis,['congenital malabsorptive diarrhea due to paucity of enteroendocrine cells'] +"""GARD:0016730""",senior-boichis syndrome,"['boichis disease', 'nephronophthisis-hepatic fibrosis syndrome']" +"""GARD:0016731""",hereditary thermosensitive neuropathy,[] +"""GARD:0016732""",desmin-related myopathy with mallory body-like inclusions,['early-onset desmin-related myopathy'] +"""GARD:0016733""",palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome,['palmoplantar hyperkeratosis-xx sex reversal-predisposition to squamous cell carcinoma syndrome'] +"""GARD:0016734""",bothnia retinal dystrophy,['västerbotten dystrophy'] +"""GARD:0016735""",familial digital arthropathy-brachydactyly,[] +"""GARD:0016736""","microcephalic osteodysplastic dysplasia, saul-wilson type",[] +"""GARD:0016737""","craniometadiaphyseal dysplasia, wormian bone type",[] +"""GARD:0016738""","metaphyseal dysplasia, braun-tinschert type",[] +"""GARD:0016739""",calvarial doughnut lesions-bone fragility syndrome,['familial doughnut lesions of skull'] +"""GARD:0016740""",spondylo-ocular syndrome,[] +"""GARD:0016741""",genochondromatosis type 1,[] +"""GARD:0016742""","x-linked intellectual disability, armfield type",['armfield syndrome'] +"""GARD:0016743""","x-linked intellectual disability, cantagrel type",[] +"""GARD:0016744""",kdm5c-related syndromic x-linked intellectual disability,[] +"""GARD:0016745""",x-linked intellectual disability-cubitus valgus-dysmorphism syndrome,[] +"""GARD:0016746""",bresek syndrome,['bresheck syndrome'] +"""GARD:0016747""","x-linked intellectual disability, wilson type",[] +"""GARD:0016748""",x-linked epilepsy-learning disabilities-behavior disorders syndrome,[] +"""GARD:0016749""","hsd10 disease, atypical type","['hsd10 deficiency; atypical type', 'syndromic x-linked intellectual disability type 10', 'x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome']" +"""GARD:0016750""","deafness-intellectual disability syndrome, martin-probst type","['hearing loss-intellectual disability syndrome; martin-probst type', 'martin-probst syndrome', 'x-linked deafness-intellectual disability syndrome syndrome', 'x-linked hearing loss-intellectual disability syndrome syndrome']" +"""GARD:0016751""","x-linked intellectual disability, shrimpton type",['mrxs9'] +"""GARD:0016752""",x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,[] +"""GARD:0016753""",fried syndrome,[] +"""GARD:0016754""",attrv30m amyloidosis,"['attrv30m-related amyloidosis', 'familial amyloid polyneuropathy type i', 'familial amyloid polyneuropathy; portuguese-swedish-japanese type', 'ttr amyloid neuropathy', 'transthyretin amyloid neuropathy', 'transthyretin amyloid polyneuropathy']" +"""GARD:0016755""",attrv122i amyloidosis,"['attr cardiomyopathy', 'attrv122i-related amyloidosis', 'ttr-related amyloid cardiomyopathy', 'ttr-related cardiac amyloidosis', 'transthyretin amyloid cardiopathy', 'transthyretin-related familial amyloid cardiomyopathy']" +"""GARD:0016756""",x-linked reticulate pigmentary disorder,"['familial cutaneous amyloidosis', 'pdr', 'partington disease', 'x-linked cutaneous amyloidosis', 'xlpdr']" +"""GARD:0016757""",helicoid peripapillary chorioretinal degeneration,"['atrophia areata', 'scra', 'sveinsson chorioretinal atrophy']" +"""GARD:0016758""",benign adult familial myoclonic epilepsy,"['adcme', 'autosomal dominant cortical myoclonus and epilepsy', 'bafme', 'benign adult familial myoclonus epilepsy', 'fame', 'fcmte', 'familial adult myoclonic epilepsy', 'familial cortical myoclonic tremor and epilepsy']" +"""GARD:0016759""",aplasia of lacrimal and salivary glands,"['alsg', 'congenital absence of lacrimal puncta and salivary glands']" +"""GARD:0016760""",hemolytic anemia due to adenylate kinase deficiency,[] +"""GARD:0016761""",alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,"['amme complex', 'amme syndrome', 'ats-mr']" +"""GARD:0016762""",atrichia with papular lesions,['papular atrichia'] +"""GARD:0016763""",lissencephaly type 3-metacarpal bone dysplasia syndrome,[] +"""GARD:0016764""","chronic myeloproliferative disease, unclassifiable","['cmpd-u', 'undifferentiated myeloproliferative disease']" +"""GARD:0016765""",interdigitating dendritic cell sarcoma,"['interdigitating cell sarcoma', 'reticulum cell sarcoma']" +"""GARD:0016766""",keratosis palmaris et plantaris-clinodactyly syndrome,['palmoplantar keratoderma-clinodactyly syndrome'] +"""GARD:0016767""","hereditary palmoplantar keratoderma, gamborg-nielsen type","['hereditary palmoplantar hyperkeratosis; gamborg-nielsen type', 'ppk; gamborg-nielsen type']" +"""GARD:0016768""",tritanopia,"['blue colour blindness', 'congenital tritanopia', 'tritan colour blindness']" +"""GARD:0016769""",terminal osseous dysplasia-pigmentary defects syndrome,[] +"""GARD:0016770""",vacuolar myopathy with sarcoplasmic reticulum protein aggregates,"['myopathy due to calsequestrin and serca1 protein overload', 'vacuolar aggregate myopathy']" +"""GARD:0016771""",hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,['4h syndrome'] +"""GARD:0016772""",autosomal dominant progressive nephropathy with hypertension,[] +"""GARD:0016773""",hepatocellular carcinoma,['hcc'] +"""GARD:0016774""",x-linked alport syndrome,[] +"""GARD:0016775""",pseudohypoaldosteronism type 2a,['pha2a'] +"""GARD:0016776""",pseudohypoaldosteronism type 2b,['pha2b'] +"""GARD:0016777""",pseudohypoaldosteronism type 2c,['pha2c'] +"""GARD:0016778""",autosomal recessive generalized epidermolysis bullosa simplex,['autosomal recessive generalized ebs'] +"""GARD:0016779""",dystrophic epidermolysis bullosa pruriginosa,"['deb pruriginosa', 'deb-pr', 'pruriginous dystrophic epidermolysis bullosa']" +"""GARD:0016780""","lissencephaly syndrome, norman-roberts type",['microlissencephaly type a'] +"""GARD:0016781""",autosomal dominant hypophosphatemic rickets,"['adhr', 'autosomal dominant hypophosphatemia']" +"""GARD:0016782""",x-linked cone dysfunction syndrome with myopia,['bornholm eye disease'] +"""GARD:0016783""",primary immunodeficiency syndrome due to lamtor2 deficiency,"['primary immunodeficiency syndrome due to p14 deficiency', 'primary immunodeficiency syndrome with short stature']" +"""GARD:0016784""",hemolytic anemia due to glutathione reductase deficiency,[] +"""GARD:0016785""",familial pseudohyperkalemia,[] +"""GARD:0016786""",charcot-marie-tooth disease-deafness-intellectual disability syndrome,"['cmt-deafness-intellectual disability syndrome', 'charcot-marie-tooth disease-hearing loss-intellectual disability syndrome', 'hereditary motor and sensory neuropathy with deafness; intellectual disability and absent sensory large myelinated fibers', 'hereditary motor and sensory neuropathy with hearing loss; intellectual disability and absent sensory large myelinated fibers']" +"""GARD:0016787""",hereditary motor and sensory neuropathy type 6,"['cmt6', 'charcot-marie-tooth disease type 6', 'hmsn 6', 'hmsn vi', 'hereditary motor and sensory neuropathy type vi', 'peripheral neuropathy and optic atrophy']" +"""GARD:0016788""",klippel-trénaunay syndrome,[] +"""GARD:0016789""",hypotrichosis simplex of the scalp,['hereditary hypotrichosis simplex of the scalp'] +"""GARD:0016790""",x-linked non-syndromic sensorineural deafness type dfn,"['x-linked isolated neurosensory deafness type dfn', 'x-linked isolated neurosensory hearing loss type dfn', 'x-linked isolated sensorineural deafness type dfn', 'x-linked isolated sensorineural hearing loss type dfn', 'x-linked non-syndromic neurosensory deafness type dfn', 'x-linked non-syndromic neurosensory hearing loss type dfn', 'x-linked non-syndromic sensorineural hearing loss type dfn']" +"""GARD:0016791""",autosomal dominant non-syndromic sensorineural deafness type dfna,"['autosomal dominant isolated neurosensory deafness type dfna', 'autosomal dominant isolated neurosensory hearing loss type dfna', 'autosomal dominant isolated sensorineural deafness type dfna', 'autosomal dominant isolated sensorineural hearing loss type dfna', 'autosomal dominant non-syndromic neurosensory deafness type dfna', 'autosomal dominant non-syndromic neurosensory hearing loss type dfna', 'autosomal dominant non-syndromic sensorineural hearing loss type dfna']" +"""GARD:0016792""",mitochondrial non-syndromic sensorineural deafness,"['isolated mitochondrial neurosensory deafness', 'isolated mitochondrial neurosensory hearing loss', 'isolated mitochondrial sensorineural deafness', 'isolated mitochondrial sensorineural hearing loss', 'mitochondrial non-syndromic neurosensory deafness', 'mitochondrial non-syndromic neurosensory hearing loss', 'mitochondrial non-syndromic sensorineural hearing loss']" +"""GARD:0016793""",hypothyroidism due to tsh receptor mutations,[] +"""GARD:0016794""","46,xy disorder of sex development due to isolated 17,20-lyase deficiency",[] +"""GARD:0016795""",cardiomyopathy-hypotonia-lactic acidosis syndrome,[] +"""GARD:0016796""",body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiency,"['pxe-like syndrome', 'pseudoxanthoma elasticum-like syndrome']" +"""GARD:0016797""",isolated cryptophthalmia,[] +"""GARD:0016798""",congenital ptosis,[] +"""GARD:0016799""",isolated congenital alacrima,[] +"""GARD:0016800""",isolated congenital sclerocornea,[] +"""GARD:0016801""",early-onset non-syndromic cataract,[] +"""GARD:0016802""",macular coloboma-cleft palate-hallux valgus syndrome,[] +"""GARD:0016803""",persistent hyperplastic primary vitreous,"['congenital retinal detachment', 'ncrna disease', 'non-syndromic congenital retinal non-attachment', 'pfvs', 'phpv', 'persistent fetal vasculature syndrome']" +"""GARD:0016804""","renal agenesis, unilateral",[] +"""GARD:0016805""",hypocalcemic vitamin d-resistant rickets,"['hvdrr', 'hereditary vitamin d-resistant rickets', 'vddr ii', 'vdrr ii', 'vitamin d-dependent rickets type ii', 'vitamin d-resistant rickets type ii']" +"""GARD:0016806""",fragile x-associated tremor/ataxia syndrome,['fxtas syndrome'] +"""GARD:0016807""",pfeiffer syndrome type 1,['classic pfeiffer syndrome'] +"""GARD:0016808""",pfeiffer syndrome type 2,[] +"""GARD:0016809""",pfeiffer syndrome type 3,[] +"""GARD:0016810""",crouzon syndrome-acanthosis nigricans syndrome,['crouzon-dermoskeletal syndrome'] +"""GARD:0016811""",cloverleaf skull-multiple congenital anomalies syndrome,[] +"""GARD:0016812""",mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis,[] +"""GARD:0016813""","spondyloepimetaphyseal dysplasia, papss2 type",['spondyloepimetaphyseal dysplasia; pakistani type'] +"""GARD:0016814""","spondyloepiphyseal dysplasia, kimberley type",[] +"""GARD:0016815""",hypochondrogenesis,[] +"""GARD:0016816""","brachyolmia, maroteaux type",['brachyolmia type 2'] +"""GARD:0016817""",postaxial polydactyly type a,[] +"""GARD:0016818""",postaxial polydactyly type b,[] +"""GARD:0016819""","spondyloepimetaphyseal dysplasia, irapa type",['semd; irapa type'] +"""GARD:0016820""",genochondromatosis type 2,[] +"""GARD:0016821""","brachydactyly-syndactyly, zhao type",[] +"""GARD:0016822""",ciliopathies with major skeletal involvement,"['srp', 'short rib dysplasia']" +"""GARD:0016823""",atypical hemolytic uremic syndrome with anti-factor h antibodies,"['atypical hus with anti-factor h antibodies', 'ahus with anti-factor h antibodies', 'ahus with neutralizing autoantibodies against factor h']" +"""GARD:0016824""",late-onset nephronophthisis,[] +"""GARD:0016825""",infantile nephronophthisis,"['autosomal recessive infantile nphp', 'autosomal recessive infantile nephronophthisis']" +"""GARD:0016826""",autosomal recessive proximal renal tubular acidosis,"['ar prta', 'proximal renal tubular acidosis with ocular abnormalities and intellectual disability']" +"""GARD:0016827""",cystinuria type a,[] +"""GARD:0016828""",cystinuria type b,[] +"""GARD:0016829""",hemoglobin h disease,"['alpha-thalassemia intermedia', 'hbh disease']" +"""GARD:0016830""",lobar holoprosencephaly,[] +"""GARD:0016831""",alobar holoprosencephaly,[] +"""GARD:0016832""",midline interhemispheric variant of holoprosencephaly,"['mih', 'mih type hpe', 'mihf', 'mihv', 'middle interhemispheric fusion variant', 'middle interhemispheric variant of holoprosencephaly', 'syntelencephaly']" +"""GARD:0016833""",laryngotracheoesophageal cleft type 3,"['ltec iii', 'ltec3', 'laryngo-tracheo-esophageal cleft type 3']" +"""GARD:0016834""","x-linked intellectual disability, hedera type",['mrxsh'] +"""GARD:0016835""",anotia,[] +"""GARD:0016836""","cerebellar ataxia, cayman type",['cayman ataxia'] +"""GARD:0016837""",anonychia congenita totalis,[] +"""GARD:0016838""",lissencephaly due to lis1 mutation,['pafah1b1-related lissencephaly'] +"""GARD:0016839""",familial adrenal hypoplasia with absent pituitary luteinizing hormone,"['familial adrenal hypoplasia with absent pituitary lh', 'familial adrenal hypoplasia; miniature type']" +"""GARD:0016840""",non-syndromic posterior hypospadias,"['hypospadias; severe form', 'perineal; scrotal or penoscrotal hypospadias']" +"""GARD:0016841""",thyroid ectopia,[] +"""GARD:0016842""",athyreosis,[] +"""GARD:0016843""",familial thyroid dyshormonogenesis,['thyroid dyshormonogenesis'] +"""GARD:0016844""",thyroid hemiagenesis,[] +"""GARD:0016845""",distal monosomy 6p,"['6p subtelomeric deletion syndrome', '6p25 microdeletion syndrome', 'distal deletion 6p', 'monosomy 6p25']" +"""GARD:0016846""",kleefstra syndrome due to 9q34 microdeletion,"['9q subtelomeric deletion syndrome', '9qstds', 'kleefstra syndrome due to 9q subtelomeric deletion', 'kleefstra syndrome due to del(9)(q34)', 'kleefstra syndrome due to monosomy 9q34']" +"""GARD:0016847""",monosomy 13q34,"['del(13)(q34)', 'distal deletion 13q34', 'subtelomeric deletion 13q34']" +"""GARD:0016848""",temple syndrome due to maternal uniparental disomy of chromosome 14,['upd(14)mat'] +"""GARD:0016849""",maternal uniparental disomy of chromosome 20,"['maternal upd(20)', 'upd(20)mat']" +"""GARD:0016850""",somatotropic adenoma,['somatotropinoma'] +"""GARD:0016851""",leydig cell hypoplasia due to complete lh resistance,"['46;xy dsd due to complete lh receptor inactivation', '46;xy dsd due to complete lh resistance', '46;xy dsd due to complete luteinizing hormone receptor inactivation', '46;xy dsd due to complete luteinizing hormone resistance', '46;xy disorder of sex development due to complete lh receptor inactivation', '46;xy disorder of sex development due to complete lh resistance', '46;xy disorder of sex development due to complete luteinizing hormone receptor inactivation', '46;xy disorder of sex development due to complete luteinizing hormone resistance', 'leydig cell hypoplasia due to complete lh receptor inactivation', 'leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation', 'leydig cell hypoplasia due to complete luteinizing hormone resistance']" +"""GARD:0016852""",leydig cell hypoplasia due to partial lh resistance,"['46;xy dsd due to partial lh receptor inactivation', '46;xy dsd due to partial lh resistance', '46;xy dsd due to partial luteinizing hormone resistance', '46;xy disorder of sex developement due to partial lh receptor inactivation', '46;xy disorder of sex developement due to partial lh resistance', '46;xy disorder of sex developement due to partial luteinizing hormone resistance', 'leydig cell hypoplasia due to partial lh receptor inactivation', 'leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation', 'leydig cell hypoplasia due to partial luteinizing hormone resistance']" +"""GARD:0016853""",familial papillary thyroid carcinoma with renal papillary neoplasia,['ptc-rcc'] +"""GARD:0016854""",renal tubular dysgenesis of genetic origin,[] +"""GARD:0016855""",lymphoproliferative disease associated with primary immune disease,[] +"""GARD:0016856""",hereditary combined deficiency of vitamin k-dependent clotting factors,['hereditary combined deficiency of factors ii; vii; ix and x'] +"""GARD:0016857""",developmental defect of the eye,[] +"""GARD:0016858""",syndromic orbital border hypoplasia,['urrets-zavalia syndrome'] +"""GARD:0016859""",rare isolated myopia,[] +"""GARD:0016860""",autosomal recessive isolated optic atrophy,['autosomal recessive non-syndromic optic atrophy'] +"""GARD:0016861""",prader-willi syndrome due to maternal uniparental disomy of chromosome 15,['upd(15)mat'] +"""GARD:0016862""",alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,"['atr syndrome linked to chromosome 16', 'atr syndrome; deletion type', 'atr-16 syndrome', 'alpha thalassemia-intellectual disability syndrome; deletion type']" +"""GARD:0016863""",acute undifferentiated leukemia,['acute myeloid leukemia; minimal differentiation; fab m0'] +"""GARD:0016864""",desquamative interstitial pneumonia,[] +"""GARD:0016865""",autosomal dominant emery-dreifuss muscular dystrophy,['edmd2'] +"""GARD:0016866""",autosomal recessive emery-dreifuss muscular dystrophy,['edmd3'] +"""GARD:0016867""",southeast asian ovalocytosis,"['hereditary ovalocytosis', 'melanesian elliptocytosis', 'melanesian ovalocytosis', 'sao', 'stomatocytic elliptocytosis']" +"""GARD:0016868""",bleeding diathesis due to integrin alpha2-beta1 deficiency,[] +"""GARD:0016869""",congenital myopathy with excess of thin filaments,['actin myopathy'] +"""GARD:0016870""",desminopathy,['desmin-related myofibrillar myopathy'] +"""GARD:0016871""",distal myotilinopathy,[] +"""GARD:0016872""",synaptic congenital myasthenic syndromes,[] +"""GARD:0016873""",acute inflammatory demyelinating polyradiculoneuropathy,"['aidp', 'acute idiopathic demyelinating polyneuropathy', 'acute inflammatory polyneuropathy', 'gbs; acute inflammatory demyelinating polyradiculoneuropathic form', 'guillain-barré syndrome; acute inflammatory demyelinating polyradiculoneuropathic form']" +"""GARD:0016874""",huntington disease-like 2,['hdl2'] +"""GARD:0016875""",coloboma of choroid and retina,[] +"""GARD:0016876""",complete cryptophthalmia,[] +"""GARD:0016877""",lisch epithelial corneal dystrophy,"['band-shaped and whorled microcystic dystrophy of the corneal epithelium', 'lecd']" +"""GARD:0016878""",subepithelial mucinous corneal dystrophy,['smcd'] +"""GARD:0016879""",fleck corneal dystrophy,"['fcd', 'françois-neetens speckled corneal dystrophy']" +"""GARD:0016880""",posterior amorphous corneal dystrophy,"['pacd', 'posterior amorphous stromal dystrophy']" +"""GARD:0016881""",central cloudy dystrophy of françois,"['ccdf', 'central cloudy corneal dystrophy of françois']" +"""GARD:0016882""",posterior polymorphous corneal dystrophy,"['ppcd', 'posterior polymorphous dystrophy', 'schlichting dystrophy']" +"""GARD:0016883""",juvenile glaucoma,[] +"""GARD:0016884""",pulverulent cataract,"['coppock-like cataract', 'dusty cataract']" +"""GARD:0016885""",early-onset sutural cataract,['early-onset cataract with y-shaped suture opacities'] +"""GARD:0016886""",coralliform cataract,[] +"""GARD:0016887""",early-onset nuclear cataract,[] +"""GARD:0016888""",early-onset partial cataract,[] +"""GARD:0016889""",early-onset posterior polar cataract,[] +"""GARD:0016890""",butterfly-shaped pigment dystrophy,"['butterfly-shaped pattern dystrophy', 'butterfly-shaped pigmentary macular dystrophy']" +"""GARD:0016891""",reticular dystrophy of the retinal pigment epithelium,[] +"""GARD:0016892""",discrete fixed membranous subaortic stenosis,[] +"""GARD:0016893""",complete atrioventricular septal defect with ventricular hypoplasia,"['cavc with ventricular hypoplasia', 'complete avsd with ventricular hypoplasia', 'complete atrioventricular canal defect with ventricular hypoplasia', 'complete atrioventricular septal defect with ventricular imbalance', 'unbalanced complete atrioventricular canal']" +"""GARD:0016894""",complete atrioventricular septal defect-tetralogy of fallot,"['cavc-tetralogy of fallot', 'complete avsd-tetralogy of fallot', 'complete atrioventricular canal defect-tetralogy of fallot']" +"""GARD:0016895""",interventricular septum aneurysm,[] +"""GARD:0016896""",congenital total pulmonary venous return anomaly,[] +"""GARD:0016897""",6-phosphogluconate dehydrogenase deficiency,[] +"""GARD:0016898""",lymphedema-posterior choanal atresia syndrome,[] +"""GARD:0016899""",isolated distichiasis,[] +"""GARD:0016900""",kandori fleck retina,[] +"""GARD:0016901""",familial medullary thyroid carcinoma,['familial mtc'] +"""GARD:0016902""",metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria,[] +"""GARD:0016903""",fried's tooth and nail syndrome,[] +"""GARD:0016904""",myotonia fluctuans,"['exercise-induced delayed-onset myotonia', 'fluctuating myotonia']" +"""GARD:0016905""",myotonia permanens,[] +"""GARD:0016906""",acetazolamide-responsive myotonia,"['acz-responsive congenital myotonia', 'acz-responsive myotonia', 'acetazolamide-responsive congenital myotonia', 'myotonia-painful contractions syndrome', 'painful congenital myotonia', 'painful myotonia']" +"""GARD:0016907""",cleft velum,['cleft velum palatinum'] +"""GARD:0016908""",oligodontia,['selective tooth agenesis'] +"""GARD:0016909""",haddad syndrome,"['congenital central alveolar hypoventilation-hirschsprung disease syndrome', 'ondine-hirschsprung disease', 'ondine-hirschsprung syndrome']" +"""GARD:0016910""",oculootodental syndrome,['ood'] +"""GARD:0016911""",peho-like syndrome,[] +"""GARD:0016912""",turcot syndrome with polyposis,[] +"""GARD:0016913""",familial gestational hyperthyroidism,[] +"""GARD:0016914""",resistance to thyrotropin-releasing hormone syndrome,"['central hypothyroidism due to trh receptor deficiency', 'trh resistance syndrome']" +"""GARD:0016915""",leukocyte adhesion deficiency type iii,"['lad-1 variant', 'lad-iii', 'leukocyte adhesion deficiency-1 variant']" +"""GARD:0016916""",genetic recurrent myoglobinuria,[] +"""GARD:0016917""",autosomal dominant myoglobinuria,[] +"""GARD:0016918""",ovarioleukodystrophy,[] +"""GARD:0016919""",cree leukoencephalopathy,[] +"""GARD:0016920""",precursor b-cell acute lymphoblastic leukemia,"['b-all', 'precursor b-cell acute lymphoblastic leukemia/lymphoma', 'precursor b-cell acute lymphocytic leukemia', 'precursor b-cell acute lymphocytic leukemia/lymphoma']" +"""GARD:0016921""",spermatocytic seminoma,[] +"""GARD:0016922""",thymoma,"['primary thymic epithelial neoplasm', 'primary thymic epithelial tumor']" +"""GARD:0016923""",familial isolated hyperparathyroidism,['fihpt'] +"""GARD:0016924""",pigeon-breeder lung disease,['bird fancier lung'] +"""GARD:0016925""",autosomal dominant charcot-marie-tooth disease type 2a2,['cmt2a2'] +"""GARD:0016926""",atypical teratoid rhabdoid tumor,['atrt'] +"""GARD:0016927""",adenocarcinoma of the esophagus,['esophageal adenocarcinoma'] +"""GARD:0016928""",complex regional pain syndrome type 1,"['algodystrophy', 'reflex sympathetic dystrophy']" +"""GARD:0016929""","abeta amyloidosis, dutch type","['abetae22q amyloidosis', 'hchwa; dutch type', 'hchwa-d', 'hereditary cerebral hemorrhage with amyloidosis; dutch type']" +"""GARD:0016930""",acys amyloidosis,"['cst3-related amyloidosis', 'cystatin amyloidosis', 'hchwa; icelandic type', 'hereditary cerebral hemorrhage with amyloidosis; icelandic type', 'hereditary cystatin c amyloid angiopathy']" +"""GARD:0016931""",hypocalcified amelogenesis imperfecta,['amelogenesis imperfecta type 3'] +"""GARD:0016932""",hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,['amelogenesis imperfecta type 4'] +"""GARD:0016933""",hereditary angioedema type 1,"['hae 1', 'hae-i', 'hereditary angioneurotic edema type 1']" +"""GARD:0016934""",hereditary angioedema type 2,"['hae 2', 'hae-ii', 'hereditary angioneurotic edema type 2']" +"""GARD:0016935""",f12-related hereditary angioedema with normal c1inh,"['f12-related hae with normal c1 inhibitor', 'hae 3', 'hae-iii', 'hereditary angioedema type 3', 'hereditary angioneurotic edema type 3', 'inherited estrogen-associated angioedema', 'inherited estrogen-associated angioneurotic edema', 'inherited estrogen-dependent angioedema', 'inherited estrogen-dependent angioneurotic edema']" +"""GARD:0016936""",renin-angiotensin-aldosterone system-blocker-induced angioedema,"['ace inhibitor-related acquired angioedema', 'acei-related acquired angioedema', 'acquired angioedema with normal c1 inhibitor', 'acquired angioedema with normal c1inh', 'raas-blocker-induced angioedema', 'raas-blocker-induced angioneurotic edema', 'rae', 'renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema']" +"""GARD:0016937""",porphyria due to ala dehydratase deficiency,"['alad porphyria', 'porphyria due to alad deficiency', 'porphyria due to delta-aminolevulinate dehydratase deficiency', 'porphyria of doss']" +"""GARD:0016938""",bathing suit ichthyosis,['bsi'] +"""GARD:0016939""",autosomal recessive spastic paraplegia type 21,"['mast syndrome', 'spg21']" +"""GARD:0016940""",autosomal recessive spastic paraplegia type 27,['spg27'] +"""GARD:0016941""",autosomal recessive spastic paraplegia type 28,['spg28'] +"""GARD:0016942""",autosomal spastic paraplegia type 30,['spg30'] +"""GARD:0016943""",congenital stromal corneal dystrophy,"['cscd', 'congenital hereditary stromal dystrophy', 'witschel dystrophy']" +"""GARD:0016944""",familial isolated congenital asplenia,[] +"""GARD:0016945""",congenital sodium diarrhea,"['na-h exchange deficiency', 'non-syndromic congenital sodium diarrhea']" +"""GARD:0016946""",tropical pancreatitis,"['tcp', 'tropical calcific chronic pancreatitis']" +"""GARD:0016947""","lung fibrosis-immunodeficiency-46,xx gonadal dysgenesis syndrome",[] +"""GARD:0016948""",hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,['ataxia-delayed dentition-hypomyelination syndrome'] +"""GARD:0016949""",hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,['hepatoencephalopathy due to coxpd1'] +"""GARD:0016950""",hypotonia with lactic acidemia and hyperammonemia,"['coxpd5', 'combined oxidative phosphorylation defect type 5']" +"""GARD:0016951""",choanal atresia,[] +"""GARD:0016952""",17q11.2 microduplication syndrome,"['dup(17)(q11.2)', 'grisart-destrée syndrome', 'trisomy 17q11.2']" +"""GARD:0016953""",distal hereditary motor neuropathy type 1,"['autosomal dominant distal juvenile spinal muscular atrophy type 1', 'dhmn1']" +"""GARD:0016954""",distal hereditary motor neuropathy type 2,"['distal spinal muscular atrophy type 2', 'dhmn2', 'dsma2']" +"""GARD:0016955""",distal hereditary motor neuropathy type 5,"['distal hmn v', 'distal hereditary motor neuropathy type v', 'distal spinal muscular atrophy type 5', 'dhmn5']" +"""GARD:0016956""",distal spinal muscular atrophy type 3,"['autosomal recessive distal spinal muscular atrophy type 3', 'distal hereditary motor neuropathy type 3 and type 4', 'dhmn3 and dhmn4', 'dsma3']" +"""GARD:0016957""",x-linked distal spinal muscular atrophy type 3,"['atp7a-related distal motor neuropathy', 'dsmax', 'smax3', 'x-linked dhmn3', 'x-linked dsma3', 'x-linked distal hereditary motor neuropathy type 3']" +"""GARD:0016958""",hereditary sensory and autonomic neuropathy type 1b,"['hsan with cough and gastroesophageal reflux', 'hsan1b', 'hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux', 'hereditary sensory and autonomic neuropathy type ib']" +"""GARD:0016959""",mutilating hereditary sensory neuropathy with spastic paraplegia,['mutilating hsan with spastic paraplegia'] +"""GARD:0016960""",distal hereditary motor neuropathy type 7,"['distal spinal muscular atrophy with vocal cord paralysis', 'dhmn7']" +"""GARD:0016961""",primary intraosseous venous malformation,"['intraosseous hemangioma', 'osseous venous malformation']" +"""GARD:0016962""",autosomal dominant slowed nerve conduction velocity,[] +"""GARD:0016963""",brachydactyly type b2,[] +"""GARD:0016964""",short stature due to primary acid-labile subunit deficiency,[] +"""GARD:0016965""",autosomal dominant macrothrombocytopenia,[] +"""GARD:0016966""",bilateral microtia-deafness-cleft palate syndrome,['bilateral microtia-hearing loss-cleft palate syndrome'] +"""GARD:0016967""","palmoplantar keratoderma, nagashima type","['ppk; nagashima type', 'palmoplantar hyperkeratosis; nagashima type']" +"""GARD:0016968""",second branchial cleft anomaly,"['second branchial cleft cyst', 'second branchial cleft fistula']" +"""GARD:0016969""",external auditory canal aplasia/hypoplasia,['external auditory canal stenosis/atresia'] +"""GARD:0016970""",nasal dermoid cyst,['nasal dermoid sinus cyst'] +"""GARD:0016971""",hemifacial hyperplasia,['hemifacial hypertrophy'] +"""GARD:0016972""",isolated congenital hypoglossia/aglossia,[] +"""GARD:0016973""",paramedian nasal cleft,"['alar cleft', 'alar rim cleft', 'cleft nose', 'isolated cleft of the ala nasi', 'isolated coloboma of the nose', 'tessier number 1 cleft']" +"""GARD:0016974""",tessier number 4 facial cleft,[] +"""GARD:0016975""",tessier number 7 facial cleft,"['commissural facial cleft', 'transverse facial cleft']" +"""GARD:0016976""",cleft lip and alveolus,[] +"""GARD:0016977""",hereditary hypophosphatemic rickets with hypercalciuria,['hhrh'] +"""GARD:0016978""",congenital or early infantile cach syndrome,[] +"""GARD:0016979""",late infantile cach syndrome,[] +"""GARD:0016980""",juvenile or adult cach syndrome,[] +"""GARD:0016981""",hereditary mixed polyposis syndrome,['hmps'] +"""GARD:0016982""",serrated polyposis syndrome,['hyperplastic polyposis syndrome'] +"""GARD:0016983""",cold-induced sweating syndrome,['ciss'] +"""GARD:0016984""",craniorhiny,[] +"""GARD:0016985""",huntington disease-like 1,"['early-onset prion disease with prominent psychiatric features', 'hdl1']" +"""GARD:0016986""",huntington disease-like 3,['hdl3'] +"""GARD:0016987""",ane syndrome,['alopecia-progressive neurological defect-endocrinopathy syndrome'] +"""GARD:0016988""","oculoauricular syndrome, schorderet type",[] +"""GARD:0016989""",hereditary progressive mucinous histiocytosis,[] +"""GARD:0016990""",epidermolysis bullosa simplex with circinate migratory erythema,"['ebs with circinate migratory erythema', 'ebs-migr']" +"""GARD:0016991""",epidermolysis bullosa simplex with pyloric atresia,"['ebs with pyloric atresia', 'ebs-pa']" +"""GARD:0016992""",hb bart's hydrops fetalis,"['alpha-thalassemia hydrops fetalis', 'alpha-thalassemia major', ""hemoglobin bart's hydrops fetalis"", 'homozygous alpha0-thalassemia']" +"""GARD:0016993""",spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome,[] +"""GARD:0016994""","spondyloepiphyseal dysplasia, reardon type",[] +"""GARD:0016995""","spondyloepiphyseal dysplasia tarda, kohn type",[] +"""GARD:0016996""","spondyloepiphyseal dysplasia, macdermot type","['spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome', 'spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome']" +"""GARD:0016997""",cntnap2-related developmental and epileptic encephalopathy,"['cdfe syndrome', 'cdfes', 'cntnap2-related dee', 'cortical dysplasia-focal epilepsy syndrome']" +"""GARD:0016998""",hypotonia-cystinuria syndrome,['hcs'] +"""GARD:0016999""",2p21 microdeletion syndrome,"['2p21 deletion syndrome', 'del(2)(p21)', 'monosomy 2p21']" +"""GARD:0017000""",action myoclonus-renal failure syndrome,"['amrf', 'epm4', 'myoclonus-nephropathy syndrome', 'progressive myoclonic epilepsy type 4', 'progressive myoclonus epilepsy type 4']" +"""GARD:0017001""",benign familial mesial temporal lobe epilepsy,['benign fmtle'] +"""GARD:0017002""",rolandic epilepsy-speech dyspraxia syndrome,[] +"""GARD:0017003""",rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,['rolandic epilepsy exercise-induced dystonia'] +"""GARD:0017004""",peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-waardenburg syndrome-hirschsprung disease,"['neurologic waardenburg-shah syndrome', 'pcwh', 'ws4 plus']" +"""GARD:0017005""","x-linked intellectual disability, nascimento type",['x-linked intellectual disability-nail dystrophy-seizures syndrome'] +"""GARD:0017006""",x-linked cerebral-cerebellar-coloboma syndrome,['x-linked intellectual disability; kroes type'] +"""GARD:0017007""","x-linked dominant chondrodysplasia, chassaing-lacombe type",['x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome'] +"""GARD:0017008""","x-linked intellectual disability, van esch type",[] +"""GARD:0017009""",x-linked intellectual disability-craniofacioskeletal syndrome,[] +"""GARD:0017010""",hyperekplexia-epilepsy syndrome,[] +"""GARD:0017011""",familial mesial temporal lobe epilepsy with febrile seizures,[] +"""GARD:0017012""","multiple epiphyseal dysplasia, beighton type","['multiple epiphyseal dysplasia-myopia-deafness syndrome', 'multiple epiphyseal dysplasia-myopia-hearing loss syndrome']" +"""GARD:0017013""","multiple epiphyseal dysplasia, lowry type",['multiple epiphyseal dysplasia with robin phenotype'] +"""GARD:0017014""","multiple epiphyseal dysplasia, al-gazali type",['multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome'] +"""GARD:0017015""","multiple epiphyseal dysplasia, with severe proximal femoral dysplasia",[] +"""GARD:0017016""","multiple epiphyseal dysplasia, with miniepiphyses",[] +"""GARD:0017017""",brachydactyly-short stature-retinitis pigmentosa syndrome,[] +"""GARD:0017018""","metaphyseal chondrodysplasia, kaitila type",[] +"""GARD:0017019""",von willebrand disease type 1,[] +"""GARD:0017020""",von willebrand disease type 2,[] +"""GARD:0017021""",von willebrand disease type 2a,[] +"""GARD:0017022""",von willebrand disease type 2b,[] +"""GARD:0017023""",von willebrand disease type 2m,[] +"""GARD:0017024""",von willebrand disease type 2n,[] +"""GARD:0017025""",von willebrand disease type 3,[] +"""GARD:0017026""",fastkd2-related infantile mitochondrial encephalomyopathy,[] +"""GARD:0017027""",isolated osteopoikilosis,[] +"""GARD:0017028""",hot water reflex epilepsy,[] +"""GARD:0017029""",reading seizures,[] +"""GARD:0017030""",spondyloepimetaphyseal dysplasia-abnormal dentition syndrome,[] +"""GARD:0017031""",congenital neuronal ceroid lipofuscinosis,['congenital ncl'] +"""GARD:0017032""",late infantile neuronal ceroid lipofuscinosis,"['jansky-bielschowsky disease', 'lincl', 'late infantile ncl']" +"""GARD:0017033""","46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency",['xy sex reversal-adrenal failure'] +"""GARD:0017034""","46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome",[] +"""GARD:0017035""",fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,['fatal mitochondrial disease due to coxpd3'] +"""GARD:0017036""",hereditary cryohydrocytosis with reduced stomatin,"['chc type 2', 'hereditary cryohydrocytosis type 2', 'stomatin-deficient cryohydrocytosis', 'sdchc']" +"""GARD:0017037""",hereditary north american indian childhood cirrhosis,[] +"""GARD:0017038""",congenital enteropathy due to enteropeptidase deficiency,['congenital enterokinase deficiency'] +"""GARD:0017039""",seborrhea-like dermatitis with psoriasiform elements,[] +"""GARD:0017040""",congenital deficiency in alpha-fetoprotein,[] +"""GARD:0017041""",autosomal thrombocytopenia with normal platelets,[] +"""GARD:0017042""",generalized basaloid follicular hamartoma syndrome,[] +"""GARD:0017043""",myeloid/lymphoid neoplasm associated with fgfr1 rearrangement,"['8p11 myeloproliferative syndrome', 'stem cell leukemia/lymphoma']" +"""GARD:0017044""",clapo syndrome,[] +"""GARD:0017045""",cernunnos-xlf deficiency,"['cernunnos xlfd', 'cernunnos deficiency', 'combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome', 'nhej1 deficiency']" +"""GARD:0017046""",combined immunodeficiency due to cd3gamma deficiency,[] +"""GARD:0017047""",susceptibility to respiratory infections associated with cd8alpha chain mutation,['familial cd8 deficiency'] +"""GARD:0017048""",combined immunodeficiency due to crac channel dysfunction,['immune dysfunction due to t-cell inactivation due to calcium entry defect'] +"""GARD:0017049""",immunodeficiency due to cd25 deficiency,['interleukin-2 receptor alpha chain deficiency'] +"""GARD:0017050""",immunodeficiency due to a late component of complement deficiency,"['immunodeficiency due to c5 to c9 component complement deficiency', 'terminal complement pathway deficiency']" +"""GARD:0017051""",t-b+ severe combined immunodeficiency due to il-7ralpha deficiency,['t-b+ scid due to il-7ralpha deficiency'] +"""GARD:0017052""",t-b+ severe combined immunodeficiency due to cd45 deficiency,['t-b+ scid due to cd45 deficiency'] +"""GARD:0017053""",t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta,['t-b+ scid due to cd3delta/cd3epsilon/cd3zeta'] +"""GARD:0017054""",primary cd59 deficiency,[] +"""GARD:0017055""",recurrent neisseria infections due to factor d deficiency,[] +"""GARD:0017056""",severe hemophilia b,"['severe congenital f9 deficiency', 'severe congenital factor ix deficiency']" +"""GARD:0017057""",moderate hemophilia b,"['moderate congenital f9 deficiency', 'moderate congenital factor ix deficiency']" +"""GARD:0017058""",mild hemophilia b,"['mild congenital f9 deficiency', 'mild congenital factor ix deficiency']" +"""GARD:0017059""",severe hemophilia a,"['severe congenital f8 deficiency', 'severe congenital factor viii deficiency']" +"""GARD:0017060""",moderate hemophilia a,"['moderate congenital f8 deficiency', 'moderate congenital factor viii deficiency']" +"""GARD:0017061""",mild hemophilia a,"['mild congenital f8 deficiency', 'mild congenital factor viii deficiency']" +"""GARD:0017062""",muscle filaminopathy,[] +"""GARD:0017063""",x-linked spastic paraplegia type 34,['spg34'] +"""GARD:0017064""",autosomal dominant spastic paraplegia type 37,['spg37'] +"""GARD:0017065""",autosomal dominant spastic paraplegia type 38,['spg38'] +"""GARD:0017066""",lissencephaly due to tuba1a mutation,[] +"""GARD:0017067""",metabolic myopathy due to lactate transporter defect,['erythrocyte lactate transporter defect'] +"""GARD:0017068""",short stature-delayed bone age due to thyroid hormone metabolism deficiency,[] +"""GARD:0017069""",cutis laxa-marfanoid syndrome,[] +"""GARD:0017070""",blindness-scoliosis-arachnodactyly syndrome,[] +"""GARD:0017071""",polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,"['pharc syndrome', 'peripheral neuropathy; fiskerstrand type', 'polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome']" +"""GARD:0017072""",mednik syndrome,"['intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome', 'intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome']" +"""GARD:0017073""",autosomal dominant spastic paraplegia type 42,['spg42'] +"""GARD:0017074""",prader-willi syndrome due to translocation,[] +"""GARD:0017075""",prader-willi syndrome due to imprinting mutation,[] +"""GARD:0017076""",bleeding disorder in hemophilia a carriers,[] +"""GARD:0017077""",bleeding disorder in hemophilia b carriers,[] +"""GARD:0017078""",moderate multiminicore disease with hand involvement,[] +"""GARD:0017079""",reticulate acropigmentation of kitamura,['rak'] +"""GARD:0017080""",distal myopathy with anterior tibial onset,['distal anterior compartment myopathy'] +"""GARD:0017081""",x-linked myopathy with postural muscle atrophy,['xmpma'] +"""GARD:0017082""","brain calcification, rajab type",[] +"""GARD:0017083""",obesity due to leptin receptor gene deficiency,[] +"""GARD:0017084""",hyper-igm syndrome with susceptibility to opportunistic infections,['higm with susceptibility to opportunistic infections'] +"""GARD:0017085""",hyper-igm syndrome without susceptibility to opportunistic infections,['higm without susceptibility to opportunistic infections'] +"""GARD:0017086""",recurrent infections associated with rare immunoglobulin isotypes deficiency,"['igg subclass deficiency with iga subclass deficiency', 'isolated igg subclass deficiency', 'kappa-chain deficiency', 'selective igg subclass deficiency']" +"""GARD:0017087""",neutrophil immunodeficiency syndrome,[] +"""GARD:0017088""",familial isolated hypoparathyroidism due to impaired pth secretion,[] +"""GARD:0017089""",familial angiolipomatosis,[] +"""GARD:0017090""",hereditary hypercarotenemia and vitamin a deficiency,[] +"""GARD:0017091""",isolated cleft lip,[] +"""GARD:0017092""",cleft lip/palate,"['alveolar cleft lip and palate', 'cleft lip and palate', 'cleft lip-alveolus-palate syndrome', 'flp']" +"""GARD:0017093""",familial clubfoot with or without associated lower limb anomalies,[] +"""GARD:0017094""",endocrine-cerebro-osteodysplasia syndrome,['eco syndrome'] +"""GARD:0017095""",pancreatic insufficiency-anemia-hyperostosis syndrome,[] +"""GARD:0017096""","muscular dystrophy, selcen type",[] +"""GARD:0017097""",thiamine-responsive encephalopathy,[] +"""GARD:0017098""",immunodeficiency with factor i anomaly,['complete factor i deficiency'] +"""GARD:0017099""",immunodeficiency with factor h anomaly,[] +"""GARD:0017100""",gonadoblastoma,[] +"""GARD:0017101""",autosomal recessive lower motor neuron disease with childhood onset,"['autosomal recessive distal spinal muscular atrophy type 4', 'distal spinal muscular atrophy type 4', 'dsma4']" +"""GARD:0017102""",autosomal dominant adult-onset proximal spinal muscular atrophy,"['autosomal dominant adult-onset proximal sma', 'autosomal dominant late-onset spinal muscular atrophy; finkel type', 'finkel disease', 'smafk']" +"""GARD:0017103""",severe neonatal-onset encephalopathy with microcephaly,['severe congenital encephalopathy due to mecp2 mutation'] +"""GARD:0017104""",autosomal dominant rhegmatogenous retinal detachment,[] +"""GARD:0017105""",extraskeletal myxoid chondrosarcoma,[] +"""GARD:0017106""",idiopathic copper-associated cirrhosis,['non-wilsonian hepatic copper toxicosis of infancy and childhood'] +"""GARD:0017107""",episodic ataxia type 6,[] +"""GARD:0017108""",episodic ataxia type 7,[] +"""GARD:0017109""",inherited congenital spastic tetraplegia,['inherited congenital spastic quadriplegia'] +"""GARD:0017110""","lethal polymalformative syndrome, boissel type",[] +"""GARD:0017111""","congenital lethal myopathy, compton-north type",[] +"""GARD:0017112""",macrocephaly-intellectual disability-autism syndrome,[] +"""GARD:0017113""",episodic ataxia type 5,[] +"""GARD:0017114""",classic pantothenate kinase-associated neurodegeneration,"['nbia1; classic form', 'neurodegeneration with brain iron accumulation type 1; classic form', 'pkan; classic form']" +"""GARD:0017115""",atypical pantothenate kinase-associated neurodegeneration,"['nbia1; atypical form', 'neurodegeneration with brain iron accumulation type 1; atypical form', 'pkan; atypical form']" +"""GARD:0017116""","microcephaly-facio-cardio-skeletal syndrome, hadziselimovic type","['hadziselimovic syndrome', 'microcephaly-faciocardioskeletal syndrome']" +"""GARD:0017117""",isolated congenital digital clubbing,"['isolated congenital acropachy', 'isolated congenital nail clubbing']" +"""GARD:0017118""","mucopolysaccharidosis type 2, severe form","['hunter syndrome type a', 'iduronate 2-sulfatase deficiency type a', 'mps2a', 'mpsiia', 'mucopolysaccharidosis type 2a', 'mucopolysaccharidosis type ii; severe form', 'mucopolysaccharidosis type iia']" +"""GARD:0017119""","mucopolysaccharidosis type 2, attenuated form","['hunter syndrome type b', 'iduronate 2-sulfatase deficiency type b', 'mps2b', 'mpsiib', 'mucopolysaccharidosis type 2b', 'mucopolysaccharidosis type ii; attenuated form', 'mucopolysaccharidosis type iib']" +"""GARD:0017120""",rin2 syndrome,"['macs syndrome', 'macrocephaly-alopecia-cutis laxa-scoliosis syndrome', 'rin2 deficiency', 'tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome']" +"""GARD:0017121""",17q21.31 microduplication syndrome,"['dup(17)(q21.31)', 'trisomy 17q21.31']" +"""GARD:0017122""",17p13.3 microduplication syndrome,"['17p13.3 duplication syndrome', 'dup(17)(p13.3)', 'trisomy 17p13.3']" +"""GARD:0017123""",progressive polyneuropathy with bilateral striatal necrosis,[] +"""GARD:0017124""",hereditary hypotrichosis with recurrent skin vesicles,[] +"""GARD:0017125""",hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency,['hereditary thrombophilia due to congenital hrg deficiency'] +"""GARD:0017126""",neonatal acute respiratory distress due to sp-b deficiency,['neonatal acute respiratory distress due to surfactant protein b deficiency'] +"""GARD:0017127""",chronic respiratory distress with surfactant metabolism deficiency,[] +"""GARD:0017128""",sensorineural deafness with dilated cardiomyopathy,"['neurosensory deafness with dilated cardiomyopathy', 'neurosensory hearing loss with dilated cardiomyopathy', 'sensorineural hearing loss with dilated cardiomyopathy']" +"""GARD:0017129""",familial isolated arrhythmogenic right ventricular dysplasia,"['familial isolated arvc', 'familial isolated arvd', 'familial isolated arrhythmogenic right ventricular cardiomyopathy', 'familial isolated arrhythmogenic ventricular cardiomyopathy', 'familial isolated arrhythmogenic ventricular dysplasia']" +"""GARD:0017130""",xeroderma pigmentosum-cockayne syndrome complex,['xp/cs complex'] +"""GARD:0017131""",semilobar holoprosencephaly,[] +"""GARD:0017132""",bleeding diathesis due to thromboxane synthesis deficiency,[] +"""GARD:0017133""",laron syndrome with immunodeficiency,"['laron-like syndrome', 'short stature due to stat5b deficiency']" +"""GARD:0017134""",rothmund-thomson syndrome type 1,"['poikiloderma of rothmund-thomson type 1', 'rts1']" +"""GARD:0017135""",rothmund-thomson syndrome type 2,"['poikiloderma of rothmund-thomson type 2', 'rts2']" +"""GARD:0017136""","hereditary sclerosing poikiloderma, weary type",[] +"""GARD:0017137""",hemifacial spasm,"['facial hemispasm', 'focal myoclonus of face']" +"""GARD:0017138""",fowler vasculopaty,"['cerebral proliferative glomeruloid vasculopathy', 'encephaloclastic proliferative vasculopathy', 'hydrocephaly/hydranencephaly due to cerebral vasculopathy', 'proliferative vasculopathy and hydranencephaly/hydrocephaly']" +"""GARD:0017139""",combined immunodeficiency with faciooculoskeletal anomalies,['roifman-chitayat syndrome'] +"""GARD:0017140""","cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies","['arcl1c', 'autosomal recessive cutis laxa type 1c', 'urban-rifkin-davis syndrome']" +"""GARD:0017141""",familial infantile bilateral striatal necrosis,"['familial ibsn', 'familial infantile striatonigral degeneration', 'familial infantile striatonigral necrosis']" +"""GARD:0017142""",hereditary breast cancer,"['familial breast cancer', 'familial breast carcinoma', 'hereditary breast carcinoma']" +"""GARD:0017143""","autosomal recessive optic atrophy, opa7 type",[] +"""GARD:0017144""",severe combined immunodeficiency due to coro1a deficiency,"['scid due to coro1a deficiency', 'scid due to coronin-1a deficiency', 'severe combined immunodeficiency due to coronin-1a deficiency']" +"""GARD:0017145""",progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,"['progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome', 'progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome', 'progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome']" +"""GARD:0017146""",autosomal dominant striatal neurodegeneration,['adsd'] +"""GARD:0017147""",autosomal dominant charcot-marie-tooth disease type 2m,['cmt2m'] +"""GARD:0017148""",patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,['patent arterial duct-bicuspid aortic valve-hand anomalies syndrome'] +"""GARD:0017149""","carnitine palmitoyl transferase ii deficiency, myopathic form","['cpt2; adult-onset form', 'cpt2; myopathic form', 'cptii; adult-onset form', 'cptii; myopathic form', 'carnitine palmitoyl transferase ii deficiency; adult-onset form', 'carnitine palmitoyl transferase deficiency type 2; adult-onset form', 'carnitine palmitoyl transferase deficiency type 2; myopathic form']" +"""GARD:0017150""","carnitine palmitoyl transferase ii deficiency, severe infantile form","['cpt2; hepatocardiomuscular form', 'cpt2; severe infantile form', 'cptii; hepatocardiomuscular form', 'cptii; severe infantile form', 'carnitine palmitoyl transferase ii deficiency; hepatocardiomuscular form', 'carnitine palmitoyl transferase deficiency type 2; hepatocardiomuscular form', 'carnitine palmitoyl transferase deficiency type 2; severe infantile form']" +"""GARD:0017151""","carnitine palmitoyl transferase ii deficiency, neonatal form","['cpt2; lethal systemic form', 'cpt2; neonatal form', 'cptii; lethal systemic form', 'cptii; neonatal form', 'carnitine palmitoyl transferase ii deficiency; lethal systemic form', 'carnitine palmitoyl transferase deficiency type 2; lethal systemic form', 'carnitine palmitoyl transferase deficiency type 2; neonatal form']" +"""GARD:0017152""",cln8 disease,[] +"""GARD:0017153""",charcot-marie-tooth disease type 2b5,"['ar-cmt2b5', 'autosomal recessive charcot-marie-tooth disease type 2b5', 'seoan due to nefl deficiency', 'severe early-onset axonal neuropathy due to nefl deficiency', 'severe early-onset axonal neuropathy due to light neurofilament subunit deficiency']" +"""GARD:0017154""",spondylo-megaepiphyseal-metaphyseal dysplasia,[] +"""GARD:0017155""",isolated agammaglobulinemia,['isolated hypogammaglobulinemia'] +"""GARD:0017156""",ehlers-danlos/osteogenesis imperfecta syndrome,['eds/oi syndrome'] +"""GARD:0017157""",erythema palmare hereditarium,"['lane disease', 'red palms disease']" +"""GARD:0017158""",familial generalized lentiginosis,"['familial lentigines profusa', 'familial multiple lentigines syndrome without systemic involvement']" +"""GARD:0017159""",familial rhabdoid tumor,"['rtps', 'rhabdoid tumor predisposition syndrome']" +"""GARD:0017160""",beckwith-wiedemann syndrome due to cdkn1c mutation,[] +"""GARD:0017161""",familial cerebral saccular aneurysm,"['familial berry aneurysm', 'familial intracranial saccular aneurysm']" +"""GARD:0017162""",beta-thalassemia major,"['cooley anemia', 'mediterranean anemia']" +"""GARD:0017163""",beta-thalassemia intermedia,[] +"""GARD:0017164""",dominant beta-thalassemia,['inclusion body beta-thalassemia'] +"""GARD:0017165""",delta-beta-thalassemia,[] +"""GARD:0017166""",beta-thalassemia-x-linked thrombocytopenia syndrome,['xltt'] +"""GARD:0017167""",alpha-thalassemia-myelodysplastic syndrome,"['atmds', 'acquired hbh disease', 'acquired hemoglobin h disease']" +"""GARD:0017168""",hermansky-pudlak syndrome due to bloc-3 deficiency,"['hps with pulmonary fibrosis', 'hermansky-pudlak syndrome with pulmonary fibrosis']" +"""GARD:0017169""",hermansky-pudlak syndrome due to bloc-2 deficiency,"['hps without pulmonary fibrosis', 'hermansky-pudlak syndrome without pulmonary fibrosis']" +"""GARD:0017170""",hermansky-pudlak syndrome due to bloc-1 deficiency,[] +"""GARD:0017171""",severe x-linked mitochondrial encephalomyopathy,"['mitochondrial encephalomyopathy due to coxpd6', 'mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6']" +"""GARD:0017172""",15q11q13 microduplication syndrome,"['15q11q13 duplication syndrome', 'dup(15)(q11q13)', 'trisomy 15q11q13']" +"""GARD:0017173""",familial hypercholanemia,['hereditary hypercholanemia'] +"""GARD:0017174""",combined immunodeficiency due to cd27 deficiency,"['autosomal recessive lymphoproliferative disease due to cd27 deficiency', 'cd27 deficiency']" +"""GARD:0017175""",atypical hypotonia-cystinuria syndrome,['atypical hcs'] +"""GARD:0017176""",chuvash erythrocytosis,"['chuvash polycythemia', 'von hippel-lindau-dependent polycythemia']" +"""GARD:0017177""",familial clubfoot due to 17q23.1q23.2 microduplication,['hereditary clubfoot due to 17q23.1-q23.2 microduplication'] +"""GARD:0017178""",beckwith-wiedemann syndrome due to nsd1 mutation,[] +"""GARD:0017179""",isolated thyrotropin-releasing hormone deficiency,"['isolated trf deficiency', 'isolated trh deficiency', 'isolated tsh-releasing factor deficiency', 'isolated prothyroliberin deficiency', 'isolated protirelin deficiency', 'isolated thyroliberin deficiency', 'isolated thyrotropin-releasing factor deficiency']" +"""GARD:0017180""",mammary-digital-nail syndrome,"['mdn syndrome', 'onycho-digito-mammary syndrome']" +"""GARD:0017181""",4q21 microdeletion syndrome,"['del(4)(q21)', 'monosomy 4q21']" +"""GARD:0017182""",classic progressive supranuclear palsy syndrome,"['classic psp syndrome', 'richardson syndrome', 'steele-richardson-olszewski disease']" +"""GARD:0017183""",progressive supranuclear palsy-parkinsonism syndrome,"['psp-p', 'psp-parkinsonism']" +"""GARD:0017184""",nijmegen breakage syndrome-like disorder,"['microcephaly and chromosomal instability without immunodeficiency', 'nbs-like disorder', 'nbsld', 'rad50 deficiency']" +"""GARD:0017185""",dimethylglycine dehydrogenase deficiency,"['dmg dehydrogenase deficiency', 'dmgdh deficiency']" +"""GARD:0017186""",dominant hypophosphatemia with nephrolithiasis or osteoporosis,[] +"""GARD:0017187""",progressive cerebello-cerebral atrophy,['pcca'] +"""GARD:0017188""",hyperphosphatasia-intellectual disability syndrome,['mabry syndrome'] +"""GARD:0017189""",autosomal dominant secondary polycythemia,['autosomal dominant secondary erythrocytosis'] +"""GARD:0017190""",primary ciliary dyskinesia-retinitis pigmentosa syndrome,[] +"""GARD:0017191""",perinatal lethal hypophosphatasia,"['perinatal lethal rathbun disease', 'perinatal lethal phosphoethanolaminuria']" +"""GARD:0017192""",infantile hypophosphatasia,"['infantile rathbun disease', 'infantile phosphoethanolaminuria']" +"""GARD:0017193""",adult hypophosphatasia,"['adult rathbun disease', 'adult phosphoethanolaminuria']" +"""GARD:0017194""",odontohypophosphatasia,[] +"""GARD:0017195""",müllerian aplasia and hyperandrogenism,"['müllerian duct failure and hyperandrogenism', 'wnt4 deficiency']" +"""GARD:0017196""",juvenile cataract-microcornea-renal glucosuria syndrome,['juvenile cataract-microcornea-renal glycosuria syndrome'] +"""GARD:0017197""",apc-related attenuated familial adenomatous polyposis,"['apc-related afap', 'apc-related attenuated fap', 'apc-related attenuated familial polyposis coli']" +"""GARD:0017198""",ectodermal dysplasia-syndactyly syndrome,"['edss', 'edss1']" +"""GARD:0017199""",ectodermal dysplasia-cutaneous syndactyly syndrome,"['edcs', 'edss2']" +"""GARD:0017200""",occult macular dystrophy,"['ocmd', 'omd']" +"""GARD:0017201""",nlrp12-associated hereditary periodic fever syndrome,"['fcas2', 'familial cold autoinflammatory syndrome type 2', 'naps12']" +"""GARD:0017202""",familial hypodysfibrinogenemia,[] +"""GARD:0017203""",autosomal recessive stickler syndrome,[] +"""GARD:0017204""",satb2-associated syndrome due to a chromosomal rearrangement,"['2q33.1 microdeletion syndrome', 'del(2)(q33.1)', 'monosomy 2q33.1']" +"""GARD:0017205""",microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,['nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome'] +"""GARD:0017206""",autosomal dominant spastic ataxia type 1,['spax1'] +"""GARD:0017207""",parietal foramina with clavicular hypoplasia,['parietal foramina with cleidocranial dysplasia'] +"""GARD:0017208""",pigmented paravenous retinochoroidal atrophy,['pprca'] +"""GARD:0017209""",ataxia-telangiectasia-like disorder,['atld'] +"""GARD:0017210""",ck syndrome,['x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome'] +"""GARD:0017211""","46,xy partial gonadal dysgenesis","['46;xy pgd', '46;xy partial testicular dysgenesis']" +"""GARD:0017212""",distal arthrogryposis type 10,"['da10', 'plantar flexion contracture', 'short achilles tendon', 'short tendo calcaneus']" +"""GARD:0017213""",hyperzincemia and hypercalprotectinemia,"['hz/hc', 'pami syndrome', 'pstpip1-associated myeloid-related proteinemia inflammatory syndrome']" +"""GARD:0017214""",medulloblastoma with extensive nodularity,['mben'] +"""GARD:0017215""",desmoplastic/nodular medulloblastoma,[] +"""GARD:0017216""",classic medulloblastoma,[] +"""GARD:0017217""",constitutional mismatch repair deficiency syndrome,['cmmr-d syndrome'] +"""GARD:0017218""",distal 7q11.23 microdeletion syndrome,"['distal del(7)(q11.23)', 'distal monosomy 7q11.23']" +"""GARD:0017219""",kagami-ogata syndrome,['kos'] +"""GARD:0017220""",temple syndrome due to paternal 14q32.2 microdeletion,['paternal del(14)(q32.2)'] +"""GARD:0017221""",kagami-ogata syndrome due to maternal 14q32.2 microdeletion,"['maternal del(14)(q32.2)', 'maternal monosomy 14q32.2']" +"""GARD:0017222""",temple syndrome due to paternal 14q32.2 hypomethylation,[] +"""GARD:0017223""",kagami-ogata syndrome due to maternal 14q32.2 hypermethylation,[] +"""GARD:0017224""",complete hydatidiform mole,['complete molar pregnancy'] +"""GARD:0017225""","mitochondrial dna depletion syndrome, encephalomyopathic form",['mtdna depletion syndrome; encephalomyopathic form'] +"""GARD:0017226""",lethal infantile mitochondrial myopathy,"['limd', 'limm', 'lethal infantile mitochondrial disease']" +"""GARD:0017227""",mitochondrial myopathy with reversible cytochrome c oxidase deficiency,"['benign cox deficiency', 'infantile reversible cytochrome c oxidase deficiency myopathy', 'mitochondrial myopathy with reversible cox deficiency', 'mitochondrial myopathy with reversible complex iv deficiency', 'reversible infantile cytochrome c oxidase deficiency', 'reversible infantile respiratory chain deficiency']" +"""GARD:0017228""","mitochondrial dna depletion syndrome, myopathic form",['mtdna depletion syndrome; myopathic form'] +"""GARD:0017229""",spinocerebellar ataxia with epilepsy,"['mscae', 'mitochondrial spinocerebellar ataxia with epilepsy', 'scae']" +"""GARD:0017230""",deafness-encephaloneuropathy-obesity-valvulopathy syndrome,['hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome'] +"""GARD:0017231""",renal tubulopathy-encephalopathy-liver failure syndrome,[] +"""GARD:0017232""",combined oxidative phosphorylation defect type 2,['coxpd2'] +"""GARD:0017233""",combined oxidative phosphorylation defect type 4,['coxpd4'] +"""GARD:0017234""",combined oxidative phosphorylation defect type 7,"['coxpd7', 'severe c12orf65-related coxpd', 'severe c12orf65-related combined oxidative phosphorylation defect']" +"""GARD:0017235""",adult-onset autosomal recessive sideroblastic anemia,['glrx5-related sideroblastic anemia'] +"""GARD:0017236""",pyruvate dehydrogenase e1-beta deficiency,"['pdhbd', 'pyruvate dehydrogenase complex e1 component subunit beta deficiency']" +"""GARD:0017237""",pyruvate dehydrogenase e3-binding protein deficiency,"['2-oxoglutarate complex deficiency', 'branched chain alpha-ketoacid dehydrogenase complex deficiency', 'diaphorase deficiency', 'dihydrolipoyl dehydrogenase deficiency', 'glycine cleavage system l protein deficiency', 'lipoamide dehydrogenase deficiency', 'pyruvate dehydrogenase complex component e3 deficiency', 'pyruvate dehydrogenase protein x component deficiency']" +"""GARD:0017238""",leigh syndrome with leukodystrophy,"['infantile subacute necrotizing encephalopathy with leukodystrophy', 'leigh disease with leukodystrophy']" +"""GARD:0017239""",leigh syndrome with nephrotic syndrome,"['infantile subacute necrotizing encephalopathy with nephrotic syndrome', 'leigh disease with nephrotic syndrome']" +"""GARD:0017240""",autosomal recessive sideroblastic anemia,"['arsa', 'congenital sideroblastic anemia']" +"""GARD:0017241""",14q11.2 microdeletion syndrome,"['del(14)(q11.2)', 'monosomy 14q11.2']" +"""GARD:0017242""",15q14 microdeletion syndrome,"['del(15)(q14)', 'monosomy 15q14']" +"""GARD:0017243""",16p11.2p12.2 microdeletion syndrome,"['del(16)(p11.2p12.2)', 'monosomy 16p11.2p12.2']" +"""GARD:0017244""",distal 16p11.2 microdeletion syndrome,"['distal del(16)(p11.2)', 'distal monosomy 16p11.2']" +"""GARD:0017245""",distal 22q11.2 microdeletion syndrome,"['distal del(22)(q11.2)', 'distal monosomy 22q11.2']" +"""GARD:0017246""",xp21 deletion syndrome,"['complex gkd', 'complex glycerol kinase deficiency', 'del(x)(p21)', 'xp21 contiguous gene deletion syndrome', 'xp21 microdeletion syndrome']" +"""GARD:0017247""",xq27.3q28 duplication syndrome,"['dup(x)(q27.3q28)', 'trisomy xq27.3-q28', 'trisomy xq27.3q28', 'xq27.3-q28 microduplication syndrome']" +"""GARD:0017248""",mowat-wilson syndrome due to monosomy 2q22,"['hirschsprung disease and intellectual disability due to 2q22 microdeletion', 'hirschsprung disease and intellectual disability due to del(2)(q22)', 'hirschsprung disease and intellectual disability due to monosomy 2q22', 'mowat-wilson syndrome due to 2q22 microdeletion', 'mowat-wilson syndrome due to del(2)q(22)']" +"""GARD:0017249""",mowat-wilson syndrome due to a zeb2 point mutation,['hirschsprung disease and intellectual disability due to a zeb2 point mutation'] +"""GARD:0017250""",alagille syndrome due to 20p12 microdeletion,"['alagille syndrome due to del(20)(p12)', 'alagille syndrome due to monosomy 20p12', 'alagille-watson syndrome due to monosomy 20p12', 'arteriohepatic dysplasia due to monosomy 20p12', 'syndromic bile duct paucity due to monosomy 20p12']" +"""GARD:0017251""",alagille syndrome due to a jag1 point mutation,"['alagille-watson syndrome due to a jag1 point mutation', 'arteriohepatic dysplasia due to a jag1 point mutation', 'syndromic bile duct paucity due to a jag1 point mutation']" +"""GARD:0017252""",alagille syndrome due to a notch2 point mutation,"['alagille-watson syndrome due to a notch2 point mutation', 'arteriohepatic dysplasia due to a notch2 point mutation', 'syndromic bile duct paucity due to a notch2 point mutation']" +"""GARD:0017253""",kleefstra syndrome due to a point mutation,[] +"""GARD:0017254""",glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,"['gsd type 15', 'gsd type xv', 'gsd with severe cardiomyopathy due to glycogenin deficiency', 'glycogen storage disease type 15', 'glycogen storage disease type xv', 'glycogenosis type 15', 'glycogenosis type xv', 'glycogenosis with severe cardiomyopathy due to glycogenin deficiency']" +"""GARD:0017255""",mrcs syndrome,['microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome'] +"""GARD:0017256""",hyperinsulinism due to insr deficiency,"['hyperinsulinemic hypoglycemia due to insr deficiency', 'hyperinsulinemic hypoglycemia due to insulin receptor deficiency']" +"""GARD:0017257""",acute necrotizing encephalopathy of childhood,"['anec', 'isolated ane', 'isolated acute necrotizing encephalopathy']" +"""GARD:0017258""",peeling skin syndrome type a,"['generalized deciduous skin type a', 'generalized peeling skin syndrome type a', 'non-inflammatory generalized peeling skin syndrome type a.', 'non-inflammatory peeling skin syndrome type a', 'pss type a']" +"""GARD:0017259""",peeling skin syndrome type b,"['generalized deciduous skin type b', 'generalized peeling skin syndrome type b', 'inflammatory peeling skin syndrome', 'pss type b']" +"""GARD:0017260""",familial multiple meningioma,[] +"""GARD:0017261""",glycogen storage disease due to liver phosphorylase kinase deficiency,"['gsd due to liver phosphorylase kinase deficiency', 'gsd type 9a', 'gsd type 9c', 'gsd type ixa', 'gsd type ixc', 'glycogen storage disease type 9a', 'glycogen storage disease type 9c', 'glycogen storage disease type ixa', 'glycogen storage disease type ixc', 'glycogenosis due to liver phosphorylase kinase deficiency', 'glycogenosis type 9a', 'glycogenosis type 9c', 'glycogenosis type ixa', 'glycogenosis type ixc', 'xlg']" +"""GARD:0017262""",ras-associated autoimmune leukoproliferative disease,['rald'] +"""GARD:0017263""",classic maple syrup urine disease,"['classic bckd deficiency', 'classic msud', 'classic branched-chain alpha-ketoacid dehydrogenase deficiency', 'classic branched-chain ketoaciduria']" +"""GARD:0017264""",intermediate maple syrup urine disease,"['intermediate bckd deficiency', 'intermediate msud', 'intermediate branched-chain alpha-ketoacid dehydrogenase deficiency']" +"""GARD:0017265""",intermittent maple syrup urine disease,"['intermittent bckd deficiency', 'intermittent msud', 'intermittent branched-chain alpha-ketoacid dehydrogenase deficiency']" +"""GARD:0017266""",thiamine-responsive maple syrup urine disease,"['thiamine-responsive bckd deficiency', 'thiamine-responsive msud', 'thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency']" +"""GARD:0017267""",hereditary thrombocytopenia with normal platelets,[] +"""GARD:0017268""",neural tube closure defect,[] +"""GARD:0017269""",bilateral polymicrogyria,[] +"""GARD:0017270""",isolated focal cortical dysplasia type iia,['fcd type iia'] +"""GARD:0017271""",isolated focal cortical dysplasia type iib,['fcd type iib'] +"""GARD:0017272""",congenital non-communicating hydrocephalus,['congenital obstructive hydrocephalus'] +"""GARD:0017273""",frontotemporal dementia with motor neuron disease,"['ftd-als', 'ftd-mnd', 'frontotemporal dementia with amyotrophic lateral sclerosis']" +"""GARD:0017274""",benign epithelial tumor of salivary glands,[] +"""GARD:0017275""",multiple endocrine neoplasia type 4,['men4'] +"""GARD:0017276""",spinocerebellar ataxia type 32,"['cerebellar ataxia with azoospermia and intellectual disability', 'sca32']" +"""GARD:0017277""",non-syndromic male infertility due to sperm motility disorder,['non-syndromic male infertility due asthenozoospermia'] +"""GARD:0017278""",familial multinodular goiter,"['fmng', 'familial mng', 'familial multinodular goiter syndrome']" +"""GARD:0017279""",hyperbiliverdinemia,['green jaundice'] +"""GARD:0017280""",10q22.3q23.3 microdeletion syndrome,"['del(10)(q22.3q23.3)', 'deletion 10q22.3q23.3', 'monosomy 10q22.3q23.3']" +"""GARD:0017281""",ogden syndrome,['premature aging appearance-developmental delay-cardiac arrhythmia syndrome'] +"""GARD:0017282""",lower motor neuron syndrome with late-adult onset,"['losmon', 'late-onset spinal motor neuronopathy', 'smaj', 'spinal muscular atrophy; jokela type']" +"""GARD:0017283""",autosomal dominant hyperinsulinism due to sur1 deficiency,['autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency'] +"""GARD:0017284""",autosomal dominant hyperinsulinism due to kir6.2 deficiency,"['autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency', 'dominant katp hyperinsulinism due to kir6.2 deficiency']" +"""GARD:0017285""",diazoxide-resistant focal hyperinsulinism due to sur1 deficiency,['hyperinsulinemic hypoglycemia due to sur1 deficiency; diazoxide-resistant focal form'] +"""GARD:0017286""",diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency,['hyperinsulinemic hypoglycemia due to kir6.2 deficiency; diazoxide-resistant focal form'] +"""GARD:0017287""",hereditary neutrophilia,[] +"""GARD:0017288""",severe combined immunodeficiency due to lck deficiency,"['scid due to lck deficiency', 'scid due to lymphocyte-specific protein tyrosine kinase deficiency', 'severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency']" +"""GARD:0017289""",septopreoptic holoprosencephaly,['septopreoptic hpe'] +"""GARD:0017290""",microform holoprosencephaly,"['hpe; minor form', 'hpe-l', 'holoprosencephaly; minor form', 'holoprosencephaly-like', 'microform hpe']" +"""GARD:0017291""","pelizaeus-merzbacher disease, connatal form","['connatal pmd', 'pelizaeus-merzbacher disease type ii', 'severe pmd']" +"""GARD:0017292""",null syndrome,"['plp1 null syndrome', 'pelizaeus-merzbacher disease; null syndrome']" +"""GARD:0017293""",pelizaeus-merzbacher-like disease due to gjc2 mutation,['pmld1'] +"""GARD:0017294""",pelizaeus-merzbacher-like disease due to hspd1 mutation,['mitochondrial hsp60 chaperonopathy'] +"""GARD:0017295""",familial steroid-resistant nephrotic syndrome with sensorineural deafness,['familial steroid-resistant nephrotic syndrome with sensorineural hearing loss'] +"""GARD:0017296""",fatal infantile hypertonic myofibrillar myopathy,[] +"""GARD:0017297""",hemoglobinopathy toms river,['transient neonatal cyanosis and anemia due to toms river hemoglobin'] +"""GARD:0017298""",familial progressive hyper- and hypopigmentation,['fphh'] +"""GARD:0017299""",occipital pachygyria and polymicrogyria,"['occipital mcd', 'occipital malformations of cortical development']" +"""GARD:0017300""",acrodysostosis with multiple hormone resistance,[] +"""GARD:0017301""",moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,['moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism'] +"""GARD:0017302""",syndromic recessive x-linked ichthyosis,"['recessive x-linked ichthyosis with extracutaneous manifestations', 'syndromic rxli']" +"""GARD:0017303""",self-improving collodion baby,"['shcb', 'sici', 'self-healing collodion baby', 'self-improving congenital ichthyosis']" +"""GARD:0017304""",annular epidermolytic ichthyosis,['aei'] +"""GARD:0017305""",congenital reticular ichthyosiform erythroderma,"['crie', 'iwc', 'ichthyosis variegata', 'ichthyosis with confetti']" +"""GARD:0017306""",keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,['klick syndrome'] +"""GARD:0017307""",inherited creutzfeldt-jakob disease,['inherited cjd'] +"""GARD:0017308""","larsen-like syndrome, b3gat3 type",['multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome'] +"""GARD:0017309""",craniosynostosis-dental anomalies,['kreiborg-pakistani syndrome'] +"""GARD:0017310""",8q21.11 microdeletion syndrome,"['del(8)(q21.11)', 'deletion 8q21.11', 'monosomy 8q21.11']" +"""GARD:0017311""",facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,"['10p12p11 microdeletion syndrome', 'del(10)(p11.21p12.31)', 'deletion 10p11.21p12.31', 'monosomy 10p11.21p12.31']" +"""GARD:0017312""",autosomal recessive cerebellar ataxia-psychomotor delay syndrome,"['autosomal recessive spinocerebellar ataxia type 11', 'scar11']" +"""GARD:0017313""",autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to wwox deficiency,"['autosomal recessive spinocerebellar ataxia type 12', 'scar12']" +"""GARD:0017314""",adult-onset autosomal recessive cerebellar ataxia,"['autosomal recessive spinocerebellar ataxia type 10', 'scar10']" +"""GARD:0017315""",pontocerebellar hypoplasia type 7,"['pch7', 'pontocerebellar hypoplasia-46;xy disorder of sex development syndrome']" +"""GARD:0017316""","glycerol kinase deficiency, juvenile form",[] +"""GARD:0017317""","glycerol kinase deficiency, adult form",[] +"""GARD:0017318""",marfan syndrome type 2,['mfs2'] +"""GARD:0017319""",hypocalcemic vitamin d-dependent rickets,"['1-alpha-hydroxylase deficiency', 'pddri', 'pseudovitamin d-deficient rickets', 'vddi', 'vddr-i', 'vitamin d dependent rickets type i', 'vitamin d-dependency type i']" +"""GARD:0017320""",autosomal recessive hypophosphatemic rickets,['arhr'] +"""GARD:0017321""",hypermethioninemia encephalopathy due to adenosine kinase deficiency,"['adk hypermethioninemia', 'hypermethioninemia encephalopathy due to adk deficiency']" +"""GARD:0017322""",developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,"['developmental delay due to aldh6a1 deficiency', 'developmental delay due to mmsdh deficiency']" +"""GARD:0017323""",familial vesicoureteral reflux,['familial vur'] +"""GARD:0017324""",early-onset myopathy with fatal cardiomyopathy,"['eomfc', 'salih myopathy']" +"""GARD:0017325""",myosclerosis,['congenital myosclerosis; löwenthal type'] +"""GARD:0017326""",intellectual disability-alacrima-achalasia syndrome,[] +"""GARD:0017327""",congenital cataract microcornea with corneal opacity,['ccmco'] +"""GARD:0017328""",dysmorphism-conductive hearing loss-heart defect syndrome,[] +"""GARD:0017329""",exfoliative ichthyosis,"['autosomal recessive exfoliative ichthyosis', 'ichthyosis exfoliativa']" +"""GARD:0017330""",glutathione synthetase deficiency with 5-oxoprolinuria,[] +"""GARD:0017331""",glutathione synthetase deficiency without 5-oxoprolinuria,[] +"""GARD:0017332""",neonatal glycine encephalopathy,"['classic glycine encephalopathy', 'neonatal nkh', 'neonatal non-ketotic hyperglycinemia']" +"""GARD:0017333""",infantile glycine encephalopathy,"['infantile nkh', 'infantile non-ketotic hyperglycinemia']" +"""GARD:0017334""",atypical glycine encephalopathy,"['atypical nka', 'atypical non-ketotic hyperglycinemia']" +"""GARD:0017335""",vitamin b12-unresponsive methylmalonic acidemia type mut0,"['complete deficiency of methylmalonyl-coa mutase', 'vitamin b12-unresponsive methylmalonic aciduria type mut0']" +"""GARD:0017336""",familial clubfoot due to 5q31 microdeletion,['hereditary clubfoot due to 5q31 microdeletion'] +"""GARD:0017337""",familial clubfoot due to pitx1 point mutation,['hereditary clubfoot due to pitx1 point mutation'] +"""GARD:0017338""",epithelial recurrent erosion dystrophy,"['dystrophia helsinglandica', 'dystrophia smolandiensis', 'ered', 'recurrent hereditary corneal erosions']" +"""GARD:0017339""",x-linked endothelial corneal dystrophy,['xecd'] +"""GARD:0017340""",pycr1-related de barsy syndrome,"['pycr1 deficiency', 'pyrroline-5-carboxylate reductase 1 deficiency']" +"""GARD:0017341""","blepharophimosis-intellectual disability syndrome, mkb type","['bmrs; mkb type', 'bmrs; maat-kievit-brunner type', 'blepharophimosis-intellectual disability syndrome; maat-kievit-brunner type', 'x-linked ohdo syndrome']" +"""GARD:0017342""","blepharophimosis-intellectual disability syndrome, verloes type","['bmrs type v', 'bmrs; verloes type', 'blepharophimosis-intellectual disability syndrome type v']" +"""GARD:0017343""",mitf-related melanoma and renal cell carcinoma predisposition syndrome,[] +"""GARD:0017344""",congenital dyserythropoietic anemia type iv,"['cda iv', 'cda due to klf1 mutation', 'cda type 4', 'cda type iv', 'cdan4', 'congenital dyserythropoietic anemia due to klf1 mutation', 'congenital dyserythropoietic anemia type 4']" +"""GARD:0017345""","familial isolated arrhythmogenic ventricular dysplasia, left dominant form",['familial isolated arrhythmogenic ventricular cardiomyopathy; left dominant form'] +"""GARD:0017346""","familial isolated arrhythmogenic ventricular dysplasia, biventricular form",['familial isolated arrhythmogenic ventricular cardiomyopathy; biventricular form'] +"""GARD:0017347""","familial isolated arrhythmogenic ventricular dysplasia, right dominant form","['familial isolated arrhythmogenic ventricular cardiomyopathy; classic form', 'familial isolated arrhythmogenic ventricular cardiomyopathy; right dominant form', 'familial isolated arrhythmogenic ventricular dysplasia; classic form']" +"""GARD:0017348""",lethal occipital encephalocele-skeletal dysplasia syndrome,[] +"""GARD:0017349""",edict syndrome,"['autosomal dominant keratoconus with early-onset anterior polar cataracts', 'endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome', 'familial keratoconus with cataract', 'ktcnct']" +"""GARD:0017350""",distal xq28 microduplication syndrome,"['distal dup(x)q(28)', 'distal trisomy xq28', 'int22h1/int22h2 mediated-xq28 microduplication syndrome']" +"""GARD:0017351""",hypertelorism-preauricular sinus-punctual pits-deafness syndrome,"['hppd', 'hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome']" +"""GARD:0017352""",hypoinsulinemic hypoglycemia and body hemihypertrophy,[] +"""GARD:0017353""",deficiency in anterior pituitary function-variable immunodeficiency syndrome,['david syndrome'] +"""GARD:0017354""",microcephaly-capillary malformation syndrome,"['mic-cap syndrome', 'mic-cm syndrome', 'microcephaly-cutaneous capillary malformation syndrome']" +"""GARD:0017355""",neonatal inflammatory skin and bowel disease,[] +"""GARD:0017356""",renal-hepatic-pancreatic dysplasia,"['ivemark ii syndrome', 'renohepaticopancreatic dysplasia']" +"""GARD:0017357""",zygodactyly type 1,"['sd1; weidenreich type', 'sd1a', 'syndactyly type 1; weidenreich type', 'syndactyly type 1a', 'zygodactyly; weidenreich type']" +"""GARD:0017358""",synpolydactyly type 1,"['sd2; vordingborg type', 'sd2a', 'spd; vordingborg type', 'spd1', 'synpolydactyly; vordingborg type']" +"""GARD:0017359""",synpolydactyly type 2,"['sd2; debeer type', 'sd2b', 'spd; debeer type', 'spd2', 'synpolydactyly; debeer type']" +"""GARD:0017360""",synpolydactyly type 3,"['sd2; malik type', 'sd2c', 'spd; malik type', 'spd3', 'synpolydactyly; malik type']" +"""GARD:0017361""",kyphoscoliotic ehlers-danlos syndrome due to fkbp22 deficiency,"['ehlers-danlos syndrome with kyphoscoliosis; myopathy; and deafness', 'ehlers-danlos syndrome with kyphoscoliosis; myopathy; and hearing loss', 'fkbp14-related eds', 'fkbp22-deficient eds', 'kyphoscoliotic eds due to fkbp22 deficiency', 'keds-fkbp14']" +"""GARD:0017362""",connective tissue disorder due to lysyl hydroxylase-3 deficiency,"['bone fragility-contractures-arterial rupture-deafness syndrome', 'bone fragility-contractures-arterial rupture-hearing loss syndrome', 'connective tissue disorder due to lh3 deficiency']" +"""GARD:0017363""",transient infantile hypertriglyceridemia and hepatosteatosis,['transient infantile hypertriglyceridemia and fatty liver'] +"""GARD:0017364""",severe congenital hypochromic anemia with ringed sideroblasts,['severe congenital hypochromic sideroblastic anemia'] +"""GARD:0017365""",congenital cataract-hearing loss-severe developmental delay syndrome,"['congenital cataract-deafness-severe developmental delay syndrome', 'huppke-brendel syndrome', 'lethal neurodegenerative disorder due to copper transport defect']" +"""GARD:0017366""",persistent polyclonal b-cell lymphocytosis,"['ppbl', 'persistent polyclonal b-cell lymphocytosis with binucleated lymphocytes']" +"""GARD:0017367""",nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,"['ebs with nephropathy', 'epidermolysis bullosa simplex with nephropathy', 'nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome']" +"""GARD:0017368""",autosomal systemic lupus erythematosus,"['autosomal sle', 'familial sle', 'familial systemic lupus erythematosus']" +"""GARD:0017369""",plcg2-associated antibody deficiency and immune dysregulation,"['facu', 'familial atypical cold urticaria', 'familial cold urticaria with common variable immunodeficiency', 'plaid']" +"""GARD:0017370""",x-linked acrogigantism,"['familial infantile gigantism', 'hereditary infantile gigantism', 'hereditary pituitary hyperplasia', 'infantile gigantism due to pituitary hyperplasia', 'x-lag']" +"""GARD:0017371""",progeroid and marfanoid aspect-lipodystrophy syndrome,[] +"""GARD:0017372""",pseudohypoaldosteronism type 2d,['pha2d'] +"""GARD:0017373""",pseudohypoaldosteronism type 2e,['pha2e'] +"""GARD:0017374""",autosomal recessive infantile hypercalcemia,['familial infantile hypercalcemia with suppressed intact parathyroid hormone'] +"""GARD:0017375""",polymicrogyria due to tubb2b mutation,[] +"""GARD:0017376""",oligodontia-cancer predisposition syndrome,['autosomal dominant ectodermal dysplasia-cancer predisposition syndrome'] +"""GARD:0017377""",interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,"['ilneb syndrome', 'jeb with interstitial lung disease and nephrotic syndrome', 'junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome']" +"""GARD:0017378""",autosomal recessive spastic paraplegia type 48,['spg48'] +"""GARD:0017379""",congenital hereditary facial paralysis-variable hearing loss syndrome,"['congenital hereditary facial palsy with variable deafness', 'congenital hereditary facial palsy with variable hearing loss', 'congenital hereditary facial paralysis with variable deafness', 'congenital hereditary facial paralysis-variable deafness syndrome']" +"""GARD:0017380""",porencephaly-microcephaly-bilateral congenital cataract syndrome,[] +"""GARD:0017381""",primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,[] +"""GARD:0017382""",sodium channelopathy-related small fiber neuropathy,[] +"""GARD:0017383""","primary dystonia, dyt21 type",['dyt21'] +"""GARD:0017384""",hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,"['hopp syndrome', 'hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome', 'hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome', 'hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome']" +"""GARD:0017385""",methylcobalamin deficiency type cbldv1,['functional methionine synthase deficiency type cbldv1'] +"""GARD:0017386""",sulfite oxidase deficiency due to molybdenum cofactor deficiency type a,"['combined deficiency of sulfite oxidase; xanthine dehydrogenase and aldehyde oxidase type a', 'mocod type a']" +"""GARD:0017387""",sulfite oxidase deficiency due to molybdenum cofactor deficiency type b,"['combined deficiency of sulfite oxidase; xanthine dehydrogenase and aldehyde oxidase type b', 'mocod type b']" +"""GARD:0017388""",sulfite oxidase deficiency due to molybdenum cofactor deficiency type c,"['combined deficiency of sulfite oxidase; xanthine dehydrogenase and aldehyde oxidase type c', 'mocod type c']" +"""GARD:0017389""",autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,[] +"""GARD:0017390""",methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency,"['mcee deficiency', 'methylmalonic acidemia due to methylmalonyl-coa racemase deficiency', 'methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency', 'methylmalonic aciduria due to methylmalonyl-coa racemase deficiency']" +"""GARD:0017391""","vitamin b12-responsive methylmalonic acidemia, type cbldv2",['vitamin b12-responsive methylmalonic aciduria; type cbldv2'] +"""GARD:0017392""",erythrocyte galactose epimerase deficiency,"['erythrocyte gale deficiency', 'erythrocyte gale-d', 'erythrocyte udp-galactose-4-epimerase deficiency', 'erythrocyte epimerase deficiency galactosemia', 'erythrocyte uridine diphosphate galactose-4-epimerase deficiency']" +"""GARD:0017393""",generalized galactose epimerase deficiency,"['generalized gale deficiency', 'generalized gale-d', 'generalized udp-galactose-4-epimerase deficiency', 'generalized epimerase deficiency galactosemia', 'generalized uridine diphosphate galactose-4-epimerase deficiency']" +"""GARD:0017394""","glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form","['gbe deficiency; progressive hepatic form', 'gsd due to glycogen branching enzyme deficiency; progressive hepatic form', 'gsd type 4; progressive hepatic form', 'gsdiv; progressive hepatic form', 'glycogen storage disease type 4; progressive hepatic form', 'glycogen storage disease type iv; progressive hepatic form', 'glycogenosis due to glycogen branching enzyme deficiency; progressive hepatic form', 'glycogenosis type 4; progressive hepatic form', 'glycogenosis type iv; progressive hepatic form']" +"""GARD:0017395""","glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form","['gbe deficiency; non progressive hepatic form', 'gsd due to glycogen branching enzyme deficiency; non progressive hepatic form', 'gsd type 4; non progressive hepatic form', 'gsdiv; non progressive hepatic form', 'glycogen storage disease type 4; non progressive hepatic form', 'glycogen storage disease type iv; non progressive hepatic form', 'glycogenosis due to glycogen branching enzyme deficiency; non progressive hepatic form', 'glycogenosis type 4; non progressive hepatic form', 'glycogenosis type iv; non progressive hepatic form']" +"""GARD:0017396""","glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","['gbe deficiency; fatal perinatal neuromuscular form', 'gsd due to glycogen branching enzyme deficiency; fatal perinatal neuromuscular form', 'gsd type 4; fatal perinatal neuromuscular form', 'gsdiv; fatal perinatal neuromuscular form', 'glycogen storage disease type 4; fatal perinatal neuromuscular form', 'glycogen storage disease type iv; fatal perinatal neuromuscular form', 'glycogenosis due to glycogen branching enzyme deficiency; fatal perinatal neuromuscular form', 'glycogenosis type 4; fatal perinatal neuromuscular form', 'glycogenosis type iv; fatal perinatal neuromuscular form']" +"""GARD:0017397""","glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form","['gbe deficiency; congenital neuromuscular form', 'gsd due to glycogen branching enzyme deficiency; congenital neuromuscular form', 'gsd type 4; congenital neuromuscular form', 'gsdiv; congenital neuromuscular form', 'glycogen storage disease type 4; congenital neuromuscular form', 'glycogen storage disease type iv; congenital neuromuscular form', 'glycogenosis due to glycogen branching enzyme deficiency; congenital neuromuscular form', 'glycogenosis type 4; congenital neuromuscular form', 'glycogenosis type iv; congenital neuromuscular form']" +"""GARD:0017398""","glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form","['gbe deficiency; childhood combined hepatic and myopathic form', 'gsd due to glycogen branching enzyme deficiency; childhood combined hepatic and myopathic form', 'gsd type 4; childhood combined hepatic and myopathic form', 'gsdiv; childhood combined hepatic and myopathic form', 'glycogen storage disease type 4; childhood combined hepatic and myopathic form', 'glycogen storage disease type iv; childhood combined hepatic and myopathic form', 'glycogenosis due to glycogen branching enzyme deficiency; childhood combined hepatic and myopathic form', 'glycogenosis type 4; childhood combined hepatic and myopathic form', 'glycogenosis type iv; childhood combined hepatic and myopathic form']" +"""GARD:0017399""","glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form","['gbe deficiency; childhood neuromuscular form', 'gsd due to glycogen branching enzyme deficiency; childhood neuromuscular form', 'gsd type 4; childhood neuromuscular form', 'gsdiv; childhood neuromuscular form', 'glycogen storage disease type 4; childhood neuromuscular form', 'glycogen storage disease type iv; childhood neuromuscular form', 'glycogenosis due to glycogen branching enzyme deficiency; childhood neuromuscular form', 'glycogenosis type 4; childhood neuromuscular form', 'glycogenosis type iv; childhood neuromuscular form']" +"""GARD:0017400""","glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form","['gbe deficiency; adult neuromuscular form', 'gsd due to glycogen branching enzyme deficiency; adult neuromuscular form', 'gsd type 4; adult neuromuscular form', 'gsdiv; adult neuromuscular form', 'glycogen storage disease type 4; adult neuromuscular form', 'glycogen storage disease type iv; adult neuromuscular form', 'glycogenosis due to glycogen branching enzyme deficiency; adult neuromuscular form', 'glycogenosis type 4; adult neuromuscular form', 'glycogenosis type iv; adult neuromuscular form']" +"""GARD:0017401""",pancreatic triacylglycerol lipase deficiency,['pancreatic triglyceride lipase deficiency'] +"""GARD:0017402""",pancreatic colipase deficiency,[] +"""GARD:0017403""",combined pancreatic lipase-colipase deficiency,[] +"""GARD:0017404""","sandhoff disease, juvenile form","['hexosaminidases a and b deficiency; juvenile form', 'juvenile gm2 gangliosidosis 0 variant']" +"""GARD:0017405""","sandhoff disease, adult form","['adult gm2 gangliosidosis 0 variant', 'hexosaminidases a and b deficiency; adult form']" +"""GARD:0017406""","gm2 gangliosidosis, ab variant",['hexosaminidase activator deficiency'] +"""GARD:0017407""","alpha-mannosidosis, infantile form",['lysosomal alpha-d-mannosidase deficiency; infantile form'] +"""GARD:0017408""","alpha-mannosidosis, adult form",['lysosomal alpha-d-mannosidase deficiency; adult form'] +"""GARD:0017409""",early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,"['afg3l2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome', 'autosomal recessive spastic ataxia type 5', 'spax5']" +"""GARD:0017410""",jawad syndrome,[] +"""GARD:0017411""",retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,"['optic nerve edema-splenomegaly syndrome', 'rosah syndrome']" +"""GARD:0017412""",coats plus syndrome,"['crmcc', 'cerebroretinal microangiopathy with calcifications and cysts']" +"""GARD:0017413""",familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,[] +"""GARD:0017414""",12p12.1 microdeletion syndrome,"['del(12)(p12.1)', 'monosomy 12p12.1']" +"""GARD:0017415""",developmental and speech delay due to sox5 deficiency,[] +"""GARD:0017416""",gastric adenocarcinoma and proximal polyposis of the stomach,"['familial fundic gland polyposis with gastric cancer', 'gapps']" +"""GARD:0017417""",chronic infantile diarrhea due to guanylate cyclase 2c overactivity,[] +"""GARD:0017418""",intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency,['meconium ileus due to guanylate cyclase 2c deficiency'] +"""GARD:0017419""",short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,['soft syndrome'] +"""GARD:0017420""",autosomal dominant aplasia and myelodysplasia,['autosomal dominant aplastic anemia and myelodysplasia'] +"""GARD:0017421""",young adult-onset distal hereditary motor neuropathy,"['autosomal recessive distal spinal muscular atrophy type 5', 'young adult-onset dhmn', 'dsma5']" +"""GARD:0017422""",facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,['hamamy syndrome'] +"""GARD:0017423""",15q overgrowth syndrome,[] +"""GARD:0017424""",distal tetrasomy 15q,"['tetrasomy 15(q25-qter)', 'tetrasomy 15q26']" +"""GARD:0017425""",autosomal recessive spastic ataxia with leukoencephalopathy,"['arsal', 'autosomal recessive spastic ataxia type 3', 'spax3']" +"""GARD:0017426""",cln11 disease,[] +"""GARD:0017427""",atp13a2-related juvenile neuronal ceroid lipofuscinosis,"['cln12 disease', 'juvenile parkinsonism-neuronal ceroid lipofuscinosis']" +"""GARD:0017428""",mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency,"['coxpd10', 'combined oxidative phosphorylation defect type 10']" +"""GARD:0017429""",non-progressive cerebellar ataxia with intellectual disability,[] +"""GARD:0017430""",combined immunodeficiency due to stk4 deficiency,['cid due to stk4 deficiency'] +"""GARD:0017431""",primary systemic amyloidosis,['systemic al amyloidosis'] +"""GARD:0017432""",lethal arteriopathy syndrome due to fibulin-4 deficiency,[] +"""GARD:0017433""",atypical dentin dysplasia due to smoc2 deficiency,['dentin dysplasia type 1 with microdontia and shape anomalies'] +"""GARD:0017434""",shox-related short stature,[] +"""GARD:0017435""",short stature due to partial ghr deficiency,['short stature due to partial growth hormone receptor deficiency'] +"""GARD:0017436""",short stature due to ghsr deficiency,"['ghrelin receptor deficiency', 'short stature due to growth hormone secretagogue receptor deficiency']" +"""GARD:0017437""",severe canavan disease,"['infantile canavan disease', 'neonatal canavan disease']" +"""GARD:0017438""",mild canavan disease,['juvenile canavan disease'] +"""GARD:0017439""",x-linked non progressive cerebellar ataxia,[] +"""GARD:0017440""",cataract-congenital heart disease-neural tube defect syndrome,[] +"""GARD:0017441""",severe combined immunodeficiency due to dna-pkcs deficiency,['scid due to dna-pkcs deficiency'] +"""GARD:0017442""",pancytopenia due to ikzf1 mutations,"['cid due to ikaros deficiency', 'combined immunodeficiency due to ikaros deficiency']" +"""GARD:0017443""",congenital myopathy with internal nuclei and atypical cores,"['cnm4', 'centronuclear myopathy type 4']" +"""GARD:0017444""",familial cortical myoclonus,[] +"""GARD:0017445""",autosomal recessive spastic paraplegia type 53,['spg53'] +"""GARD:0017446""",mit family translocation renal cell carcinoma,"['carcinoma associated with mitf/tfe translocation', 'translocation renal cell carcinoma']" +"""GARD:0017447""",autosomal recessive myogenic arthrogryposis multiplex congenita,"['autosomal recessive myogenic amc', 'syne1-related amc', 'syne1-related arthrogryposis multiplex congenita']" +"""GARD:0017448""",carney complex-trismus-pseudocamptodactyly syndrome,['carney complex variant'] +"""GARD:0017449""",inherited cancer-predisposing syndrome due to biallelic brca2 mutations,[] +"""GARD:0017450""",inherited acute myeloid leukemia,"['familial aml', 'inherited aml', 'pure familial aml', 'pure familial acute myeloid leukemia']" +"""GARD:0017451""",acute myeloid leukemia with cebpa somatic mutations,['aml with cebpa somatic mutations'] +"""GARD:0017452""",combined oxidative phosphorylation defect type 8,['coxpd8'] +"""GARD:0017453""",combined oxidative phosphorylation defect type 9,['coxpd9'] +"""GARD:0017454""",combined oxidative phosphorylation defect type 13,['coxpd13'] +"""GARD:0017455""",combined oxidative phosphorylation defect type 14,['coxpd14'] +"""GARD:0017456""",combined oxidative phosphorylation defect type 15,['coxpd15'] +"""GARD:0017457""",mendelian susceptibility to mycobacterial diseases due to complete ifngammar2 deficiency,"['msmd due to complete ifngammar2 deficiency', 'msmd due to complete interferon gamma receptor 2 deficiency', 'mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency']" +"""GARD:0017458""",mendelian susceptibility to mycobacterial diseases due to complete isg15 deficiency,['msmd due to complete isg15 deficiency'] +"""GARD:0017459""",autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency,"['autosomal recessive msmd due to partial ifngammar1 deficiency', 'autosomal recessive msmd due to partial interferon gamma receptor 1 deficiency', 'autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency']" +"""GARD:0017460""",autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency,"['autosomal recessive msmd due to partial ifngammar2 deficiency', 'autosomal recessive msmd due to partial interferon gamma receptor 2 deficiency', 'autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency']" +"""GARD:0017461""",autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency,"['autosomal dominant msmd due to partial ifngammar1 deficiency', 'autosomal dominant msmd due to partial interferon gamma receptor 1 deficiency', 'autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency']" +"""GARD:0017462""",mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency,"['msmd due to partial stat1 deficiency', 'msmd due to partial signal transducer and activator of transcription 1 deficiency', 'mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency']" +"""GARD:0017463""",mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency,"['msmd due to partial irf8 deficiency', 'msmd due to partial interferon regulatory factor 8 deficiency', 'mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency']" +"""GARD:0017464""",x-linked mendelian susceptibility to mycobacterial diseases,['x-linked msmd'] +"""GARD:0017465""",x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency,['x-linked msmd due to cybb deficiency'] +"""GARD:0017466""",amyloidosis cutis dyschromia,['amyloidosis cutis dyschromica'] +"""GARD:0017467""",retinal macular dystrophy type 2,['mcdr2'] +"""GARD:0017468""",alazami syndrome,['microcephalic primordial dwarfism; alazami type'] +"""GARD:0017469""","microcephalic primordial dwarfism, dauber type",[] +"""GARD:0017470""",encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,[] +"""GARD:0017471""",autosomal dominant spastic paraplegia type 41,['spg41'] +"""GARD:0017472""",autosomal dominant spastic paraplegia type 36,['spg36'] +"""GARD:0017473""",autosomal recessive spastic paraplegia type 43,['spg43'] +"""GARD:0017474""",autosomal recessive spastic paraplegia type 55,['spg55'] +"""GARD:0017475""",autosomal recessive spastic paraplegia type 54,['spg54'] +"""GARD:0017476""",autosomal recessive spastic paraplegia type 46,['spg46'] +"""GARD:0017477""",autosomal recessive spastic paraplegia type 45,"['autosomal recessive spastic paraplegia type 65', 'spg45', 'spg65']" +"""GARD:0017478""",autosomal recessive spastic paraplegia type 44,['spg44'] +"""GARD:0017479""",spastic paraplegia-optic atrophy-neuropathy syndrome,['spoan'] +"""GARD:0017480""",autosomal recessive spastic paraplegia type 56,['spg56'] +"""GARD:0017481""",autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency,"['autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency', 'autosomal recessive spinocerebellar ataxia type 13', 'scar13']" +"""GARD:0017482""",early-onset lafora body disease,[] +"""GARD:0017483""",t-cell immunodeficiency with epidermodysplasia verruciformis,['t-cell immunodeficiency due to rhoh deficiency'] +"""GARD:0017484""",sinoatrial node dysfunction and deafness,['sinoatrial node dysfunction and hearing loss'] +"""GARD:0017485""",x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,[] +"""GARD:0017486""",autoinflammation-plcg2-associated antibody deficiency-immune dysregulation,['aplaid'] +"""GARD:0017487""",combined oxidative phosphorylation defect type 11,['coxpd11'] +"""GARD:0017488""",pontocerebellar hypoplasia type 8,"['pch8', 'pontocerebellar hypoplasia due to chmp1a mutation']" +"""GARD:0017489""",abetal34v amyloidosis,"['abeta amyloidosis; piedmont type', 'abetal34v-related amyloidosis', 'hchwa; piedmont type', 'hereditary cerebral hemorrhage with amyloidosis; piedmont type']" +"""GARD:0017490""","abeta amyloidosis, iowa type","['abetad23n amyloidosis', 'hchwa; iowa type', 'hereditary cerebral hemorrhage with amyloidosis; iowa type']" +"""GARD:0017491""","abeta amyloidosis, italian type","['abetae22k amyloidosis', 'hchwa; italian type', 'hereditary cerebral hemorrhage with amyloidosis; italian type']" +"""GARD:0017492""",abetaa21g amyloidosis,"['abeta amyloidosis; flemish type', 'abetaa21g-related amyloidosis', 'hchwa; flemish type', 'hereditary cerebral hemorrhage with amyloidosis; flemish type']" +"""GARD:0017493""","abeta amyloidosis, arctic type","['abetae22g amyloidosis', 'hchwa; arctic type', 'hereditary cerebral hemorrhage with amyloidosis; arctic type']" +"""GARD:0017494""",autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,[] +"""GARD:0017495""",tall stature-long halluces-multiple extra-epiphyses syndrome,['tall stature-scoliosis-macrodactyly of the halluces syndrome'] +"""GARD:0017496""",developmental delay with autism spectrum disorder and gait instability,['developmental delay with asd and gait instability'] +"""GARD:0017497""",autosomal dominant neovascular inflammatory vitreoretinopathy,['adniv'] +"""GARD:0017498""",microcephalic primordial dwarfism due to znf335 deficiency,['microcephalic primordial dwarfism; walsh type'] +"""GARD:0017499""",x-linked central congenital hypothyroidism with late-onset testicular enlargement,"['igsf1 deficiency syndrome', 'x-linked central congenital hypothyroidism with late-onset macroorchidism']" +"""GARD:0017500""",congenital chronic diarrhea with protein-losing enteropathy,['congenital chronic diarrhea with exudative enteropathy'] +"""GARD:0017501""",adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency,['adult-onset multiple mtdna deletion syndrome due to dguok deficiency'] +"""GARD:0017502""",microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,['microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome'] +"""GARD:0017503""",adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,['adult-onset cpeo with mitochondrial myopathy'] +"""GARD:0017504""",lipoprotein glomerulopathy,['lpg'] +"""GARD:0017505""",5p13 microduplication syndrome,"['dup(5)(p13)', 'trisomy 5p13']" +"""GARD:0017506""",immunoglobulin-mediated membranoproliferative glomerulonephritis,"['ig-mediated mpgn', 'ig-mediated membranoproliferative glomerulonephritis', 'immunoglobulin-mediated mpgn']" +"""GARD:0017507""",c3 glomerulopathy,"['non-ig-mediated mpgn', 'non-ig-mediated membranoproliferative glomerulonephritis', 'non-immunoglobulin-mediated mpgn', 'non-immunoglobulin-mediated membranoproliferative glomerulonephritis']" +"""GARD:0017508""",generalized juvenile polyposis/juvenile polyposis coli,[] +"""GARD:0017509""",dnm1l-related encephalopathy due to mitochondrial and peroxisomal fission defect,[] +"""GARD:0017510""",actinic prurigo,"['familial polymorphous light eruption of american indians', 'hereditary polymorphous light eruption of american indians', 'hutchinson summer prurigo', 'hydroa aestivale']" +"""GARD:0017511""",autosomal recessive severe congenital neutropenia due to g6pc3 deficiency,"['scn4', 'severe congenital neutropenia type 4', 'severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome']" +"""GARD:0017512""",immunodeficiency due to masp-2 deficiency,[] +"""GARD:0017513""",immunodeficiency due to ficolin3 deficiency,[] +"""GARD:0017514""",susceptibility to infection due to tyk2 deficiency,['autosomal recessive hyper-ige syndrome due to tyk2 deficiency'] +"""GARD:0017515""",congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,"['congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome', 'elovl4-related neuro ichthyosis']" +"""GARD:0017516""",spectrin-associated autosomal recessive cerebellar ataxia,"['ataxie spinocérébelleuse à début infantile avec retard psychomoteur', 'autosomal recessive spinocerebellar ataxia type 14', 'infantile-onset spinocerebellar ataxia-psychomotor delay syndrome', 'scar14', 'sparca', 'sparca1', 'spectrin-associated autosomal recessive cerebellar ataxia type 1']" +"""GARD:0017517""",progressive external ophthalmoplegia-myopathy-emaciation syndrome,"['mitochondrial dna maintenance syndrome due to mgme1 deficiency', 'peo-myopathy-emaciation syndrome', 'mtdna maintenance syndrome due to mgme1 deficiency']" +"""GARD:0017518""",dna2-related mitochondrial dna deletion syndrome,"['mitochondrial dna deletion syndrome with limb-girdle weakness', 'mitochondrial dna deletion syndrome with progressive myopathy', 'mtdna deletion syndrome with limb-girdle weakness', 'mtdna deletion syndrome with progressive myopathy']" +"""GARD:0017519""",ispd-related limb-girdle muscular dystrophy r20,"['autosomal recessive limb-girdle muscular dystrophy type 2u', 'ispd-related lgmd r20', 'lgmd type 2u', 'lgmd2u', 'limb-girdle muscular dystrophy type 2u']" +"""GARD:0017520""",autism spectrum disorder due to auts2 deficiency,"['asd due to auts2 deficiency', 'auts2 syndrome']" +"""GARD:0017521""",familial infantile myoclonic epilepsy,"['fime', 'familial infantile myoclonus epilepsy']" +"""GARD:0017522""",progressive myoclonic epilepsy with dystonia,"['pmed', 'progressive myoclonus epilepsy with dystonia']" +"""GARD:0017523""",early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,[] +"""GARD:0017524""",hereditary benign intraepithelial dyskeratosis,"['hbid', 'hereditary benign corneal intraepithelial dyskeratosis']" +"""GARD:0017525""",corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,[] +"""GARD:0017526""",cobblestone lissencephaly without muscular or ocular involvement,"['cobblestone lissencephaly without muscular or eye involvement', 'lissencephaly type 2 without muscular or eye involvement', 'lissencephaly type 2 without muscular or ocular involvement']" +"""GARD:0017527""",cln13 disease,[] +"""GARD:0017528""",facial dysmorphism-immunodeficiency-livedo-short stature syndrome,['fils syndrome'] +"""GARD:0017529""",progressive retinal dystrophy due to retinol transport defect,['retinol dystrophy-iris coloboma-comedogenic acne syndrome'] +"""GARD:0017530""",temperature-sensitive oculocutaneous albinism type 1,"['oca1-ts', 'ts oca type 1']" +"""GARD:0017531""",oculocutaneous albinism type 7,['oca7'] +"""GARD:0017532""",epileptic encephalopathy with global cerebral demyelination,"['agc1 deficiency', 'mitochondrial aspartate-glutamate carrier 1 deficiency']" +"""GARD:0017533""",familial primary localized cutaneous amyloidosis,['fplca'] +"""GARD:0017534""",rubinstein-taybi syndrome due to crebbp mutations,[] +"""GARD:0017535""",rubinstein-taybi syndrome due to ep300 haploinsufficiency,[] +"""GARD:0017536""","pyruvate carboxylase deficiency, infantile type",['pyruvate carboxylase deficiency type a'] +"""GARD:0017537""","pyruvate carboxylase deficiency, severe neonatal type",['pyruvate carboxylase deficiency type b'] +"""GARD:0017538""","pyruvate carboxylase deficiency, benign type",['pyruvate carboxylase deficiency type c'] +"""GARD:0017539""",congenital myasthenic syndromes with glycosylation defect,[] +"""GARD:0017540""","d,l-2-hydroxyglutaric aciduria","['combined d-2-hydroxyglutaric acidemia and l-2-hydroxyglutaric acidemia', 'combined d-2-hydroxyglutaric aciduria and l-2-hydroxyglutaric aciduria', 'd;l-2-hga', 'd;l-2-hydroxyglutaric acidemia']" +"""GARD:0017541""",ank3-related intellectual disability-sleep disturbance syndrome,[] +"""GARD:0017542""",19p13.13 microdeletion syndrome,"['del(19)(p13.13)', 'monosomy 19p13.13']" +"""GARD:0017543""",hemolytic uremic syndrome with dgke deficiency,['hus with dgke deficiency'] +"""GARD:0017544""",hereditary retinoblastoma,[] +"""GARD:0017545""",non-hereditary retinoblastoma,[] +"""GARD:0017546""","autosomal recessive cutis laxa type 2, classic type","['arcl2; debré type', 'arcl2; classic type', 'autosomal recessive cutis laxa type 2; debré type']" +"""GARD:0017547""",mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,['macroblepharon-ectropion-hypertelorism-macrostomia syndrome'] +"""GARD:0017548""",short ulna-dysmorphism-hypotonia-intellectual disability syndrome,[] +"""GARD:0017549""",severe combined immunodeficiency due to card11 deficiency,['scid due to card11 deficiency'] +"""GARD:0017550""",combined immunodeficiency due to il21r deficiency,[] +"""GARD:0017551""",syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,"['synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome', 'wahab syndrome']" +"""GARD:0017552""",severe neurodegenerative syndrome with lipodystrophy,['severe neurodegenerative syndrome due to bscl2 deficiency'] +"""GARD:0017553""",fetal akinesia-cerebral and retinal hemorrhage syndrome,"['lccs5', 'lethal congenital contracture syndrome type 5']" +"""GARD:0017554""",hypomyelination with brain stem and spinal cord involvement and leg spasticity,['hbsl'] +"""GARD:0017555""",multiple mitochondrial dysfunctions syndrome type 3,"['iba57 deficiency', 'mmds3']" +"""GARD:0017556""",autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome,[] +"""GARD:0017557""",autosomal recessive congenital cerebellar ataxia due to grid2 deficiency,"['autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency', 'scar18']" +"""GARD:0017558""",thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome,"['bbis', 'beaulieu-boycott-innes syndrome']" +"""GARD:0017559""",autosomal dominant childhood-onset proximal spinal muscular atrophy,"['lower extremity-predominant autosomal dominant proximal spinal muscular atrophy', 'smaled']" +"""GARD:0017560""",testicular teratoma,['teratoma of the testis'] +"""GARD:0017561""",non-seminomatous germ cell tumor of testis,"['non-dysgerminomatous germ cell tumor of testis', 'testicular non seminomatous germ cell tumor', 'testicular non-dysgerminomatous germ cell tumor']" +"""GARD:0017562""",hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,['shaheen syndrome'] +"""GARD:0017563""",intellectual disability-strabismus syndrome,[] +"""GARD:0017564""","mitochondrial dna depletion syndrome, hepatocerebrorenal form",['mtdna depletion syndrome; hepatocerebrorenal form'] +"""GARD:0017565""",leukoencephalopathy with mild cerebellar ataxia and white matter edema,[] +"""GARD:0017566""",ctcf-related neurodevelopmental disorder,[] +"""GARD:0017567""",x-linked parkinsonism-spasticity syndrome,['xpds'] +"""GARD:0017568""",childhood-onset autosomal recessive myopathy with external ophthalmoplegia,[] +"""GARD:0017569""",hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,['hupra syndrome'] +"""GARD:0017570""",neurofibromatosis type 1 due to nf1 mutation or intragenic deletion,['von recklinghausen disease due to nf1 mutation or intragenic deletion'] +"""GARD:0017571""",craniofaciofrontodigital syndrome,['cantu craniofaciofrontodigital syndrome'] +"""GARD:0017572""",alexander disease type i,['axd type i'] +"""GARD:0017573""",alexander disease type ii,['axd type ii'] +"""GARD:0017574""",x-linked dyserythropoietic anemia with abnormal platelets and neutropenia,[] +"""GARD:0017575""",colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome,[] +"""GARD:0017576""",17q21.31 microdeletion syndrome,"['del(17)(q21.31)', 'monosomy 17q21.31']" +"""GARD:0017577""",noonan syndrome-like disorder with juvenile myelomonocytic leukemia,"['cbl syndrome', 'noonan syndrome-like disorder with jmml']" +"""GARD:0017578""",charcot-marie-tooth disease type 4b3,"['cmt4b3', 'charcot-marie-tooth disease with focally folded myelin']" +"""GARD:0017579""",ichthyosis-short stature-brachydactyly-microspherophakia syndrome,['15q26.3 microdeletion syndrome'] +"""GARD:0017580""",non-immune hydrops fetalis,"['nihf', 'non-immune hf', 'non-immune fetal edema', 'non-immune fetal hydrops']" +"""GARD:0017581""",x-linked intellectual disability due to gria3 mutations,[] +"""GARD:0017582""",infantile epileptic-dyskinetic encephalopathy,[] +"""GARD:0017583""",intellectual disability-brachydactyly-pierre robin syndrome,[] +"""GARD:0017584""",intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,"['congenital disorder of glycosylation due to pigt deficiency', 'mcahs type 3', 'multiple congenital anomalies-hypotonia-seizures syndrome type 3', 'pigt-cdg']" +"""GARD:0017585""",congenital neutropenia-myelofibrosis-nephromegaly syndrome,"['congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome', 'vps45 deficiency']" +"""GARD:0017586""",congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome,['sifd syndrome'] +"""GARD:0017587""",autosomal recessive intermediate charcot-marie-tooth disease type c,['ri-cmt type c'] +"""GARD:0017588""",developmental delay-facial dysmorphism syndrome due to med13l deficiency,['med13l-related intellectual disability syndrome'] +"""GARD:0017589""",combined oxidative phosphorylation defect type 17,['coxpd17'] +"""GARD:0017590""",pontocerebellar hypoplasia type 9,['pch9'] +"""GARD:0017591""",primary hyperaldosteronism-seizures-neurological abnormalities syndrome,[] +"""GARD:0017592""",severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,['severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome'] +"""GARD:0017593""",microcornea-myopic chorioretinal atrophy-telecanthus syndrome,['mmcat syndrome'] +"""GARD:0017594""",severe dermatitis-multiple allergies-metabolic wasting syndrome,"['congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome', 'sam syndrome']" +"""GARD:0017595""",diffuse palmoplantar keratoderma with painful fissures,[] +"""GARD:0017596""",focal palmoplantar keratoderma with joint keratoses,[] +"""GARD:0017597""",ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,['poretti-boltshauser syndrome'] +"""GARD:0017598""",oculocutaneous albinism type 5,['oca5'] +"""GARD:0017599""",oculocutaneous albinism type 6,['oca6'] +"""GARD:0017600""",extraskeletal ewing sarcoma,"['eoe', 'extraosseous ewing sarcoma', 'extraosseous ewing tumor', 'extraskeletal ewing tumor']" +"""GARD:0017601""",peripheral primitive neuroectodermal tumor,"['ppnet', 'peripheral pnet', 'peripheral neuroepithelioma']" +"""GARD:0017602""",stt3a-cdg,"['cdg syndrome type iw', 'cdg-iw', 'cdg1w', 'congenital disorder of glycosylation type 1w', 'congenital disorder of glycosylation type iw']" +"""GARD:0017603""",stt3b-cdg,"['cdg syndrome type ix', 'cdg-ix', 'cdg1x', 'carbohydrate deficient glycoprotein syndrome type ix', 'congenital disorder of glycosylation type 1x', 'congenital disorder of glycosylation type ix']" +"""GARD:0017604""",autism spectrum disorder-epilepsy-arthrogryposis syndrome,['slc35a3-cdg'] +"""GARD:0017605""",congenital muscular dystrophy with cerebellar involvement,"['cmd with cerebellar involvement', 'cmd-crb']" +"""GARD:0017606""",congenital muscular dystrophy with intellectual disability,"['cmd with intellectual disability', 'cmd-mr']" +"""GARD:0017607""",congenital muscular dystrophy without intellectual disability,"['cmd without intellectual disability', 'cmd-no mr', 'congenital muscular dystrophy-dystroglycanopathy without intellectual disability']" +"""GARD:0017608""",muscle-eye-brain disease with bilateral multicystic leucodystrophy,['meb disease with bilateral multicystic leucodystrophy'] +"""GARD:0017609""",hypotonia-speech impairment-severe cognitive delay syndrome,"['ihprf syndrome', 'infantile hypotonia-psychomotor retardation-characteristic facies syndrome']" +"""GARD:0017610""",multicentric osteolysis-nodulosis-arthropathy spectrum,"['mona spectrum', 'nao syndrome', 'nodulosis-arthropathy-osteolysis syndrome', 'torg-winchester syndrome']" +"""GARD:0017611""",severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,[] +"""GARD:0017612""",susceptibility to viral and mycobacterial infections due to stat1 deficiency,"['predisposition to severe viral infection due to stat1 deficiency', 'stat1 deficiency']" +"""GARD:0017613""",east texas bleeding disorder,[] +"""GARD:0017614""",x-linked osteoporosis with fractures,[] +"""GARD:0017615""",growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,[] +"""GARD:0017616""",surf1-related charcot-marie-tooth disease type 4,"['cmt4k', 'charcot-marie-tooth disease type 4k', 'surf1-related cmt4', 'surf1-related severe demyelinating charcot-marie-tooth disease']" +"""GARD:0017617""",congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,['asparagine synthetase deficiency'] +"""GARD:0017618""",familial episodic pain syndrome with predominantly upper body involvement,[] +"""GARD:0017619""",familial episodic pain syndrome with predominantly lower limb involvement,[] +"""GARD:0017620""",primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,[] +"""GARD:0017621""",atypical juvenile parkinsonism,[] +"""GARD:0017622""","hsd10 disease, infantile type","['2-methyl-3-hydroxybutyric aciduria; classic type', '2-methyl-3-hydroxybutyric aciduria; infantile type', '2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency; classic type', '2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency; infantile type', 'hsd10 deficiency; classic type', 'hsd10 deficiency; infantile type', 'hsd10 disease; classic type', 'mhbd deficiency; classic type', 'mhbd deficiency; infantile type']" +"""GARD:0017623""","hsd10 disease, neonatal type","['2-methyl-3-hydroxybutyric aciduria; neonatal type', '2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency; neonatal type', 'hsd10 deficiency; neonatal type', 'mhbd deficiency; neonatal type']" +"""GARD:0017624""",feingold syndrome type 1,"['brunner-winter syndrome type 1', 'digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1', 'fglds1', 'fs1', 'mmt type 1', 'moded syndrome type 1', 'microcephaly-digital anomalies-normal intelligence syndrome type 1', 'microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1', 'microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1', 'oded syndrome type 1', 'oculo-digito-esophageal-duodenal syndrome type 1']" +"""GARD:0017625""",feingold syndrome type 2,"['brachydactyly-short stature-microcephaly syndrome', 'brunner-winter syndrome type 2', 'fglds2', 'fs2', 'mmt type 2', 'microcephaly-digital anomalies-normal intelligence syndrome type 2', 'microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2']" +"""GARD:0017626""","multiple acyl-coa dehydrogenase deficiency, severe neonatal type","['glutaric aciduria type 2; severe neonatal type', 'mad deficiency; severe neonatal type', 'madd; severe neonatal type']" +"""GARD:0017627""","multiple acyl-coa dehydrogenase deficiency, mild type","['glutaric aciduria type 2; mild type', 'mad deficiency; mild type', 'madd; mild type']" +"""GARD:0017628""",silver-russell syndrome due to a point mutation,[] +"""GARD:0017629""",severe neonatal lactic acidosis due to nfs1-isd11 complex deficiency,[] +"""GARD:0017630""",macrocephaly-developmental delay syndrome,[] +"""GARD:0017631""",obesity due to cep19 deficiency,[] +"""GARD:0017632""",foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,['fhonda syndrome'] +"""GARD:0017633""",short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,['sams syndrome'] +"""GARD:0017634""",familial hyperprolactinemia,['familial isolated prolactin receptor deficiency'] +"""GARD:0017635""",hereditary isolated aplastic anemia,[] +"""GARD:0017636""",intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,"['autosomal recessive spinocerebellar ataxia type 20', 'intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome', 'scar20']" +"""GARD:0017637""",joubert syndrome with jeune asphyxiating thoracic dystrophy,"['jbts with jatd', 'joubert syndrome with jatd']" +"""GARD:0017638""",autosomal dominant charcot-marie-tooth disease type 2u,"['autosomal dominant charcot-marie-tooth disease type 2 due to mars mutation', 'cmt2u']" +"""GARD:0017639""",peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,['peripheral neuropathy-myopathy-hoarseness-deafness syndrome'] +"""GARD:0017640""",retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,['retinal dystrophy with inner nuclear layer and ganglion cell anomalies'] +"""GARD:0017641""",severe combined immunodeficiency due to ikk2 deficiency,['scid due to ikk2 deficiency'] +"""GARD:0017642""",sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,[] +"""GARD:0017643""",polyglucosan body myopathy type 1,['pgbm1'] +"""GARD:0017644""",autosomal spastic paraplegia type 58,"['autosomal spastic ataxia type 2', 'spax2', 'spg58']" +"""GARD:0017645""",microcephaly-thin corpus callosum-intellectual disability syndrome,[] +"""GARD:0017646""",tcr-alpha-beta-positive t-cell deficiency,['tcr-alpha-beta+ t-cell deficiency'] +"""GARD:0017647""",combined immunodeficiency due to malt1 deficiency,[] +"""GARD:0017648""",intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,['momes syndrome'] +"""GARD:0017649""",focal facial dermal dysplasia type ii,"['ffdd type ii', 'ffdd2', 'focal facial dermal dysplasia 2; brauer-setleis type']" +"""GARD:0017650""",focal facial dermal dysplasia type iv,"['ffdd type iv', 'ffdd4', 'focal facial dermal dysplasia 4', 'focal facial preauricular dysplasia']" +"""GARD:0017651""",alpha-b crystallin-related late-onset myopathy,"['alpha-b crystallin-related late-onset distal myopathy', 'late-onset distal crystallinopathy']" +"""GARD:0017652""",finnish upper limb-onset distal myopathy,"['distal myopathy type 3', 'mpd3']" +"""GARD:0017653""",distal anoctaminopathy,"['mmd3', 'miyoshi muscular dystrophy type 3']" +"""GARD:0017654""",male infertility with teratozoospermia due to single gene mutation,[] +"""GARD:0017655""",pancytopenia-developmental delay syndrome,['trilineage bone marrow failure-developmental delay syndrome'] +"""GARD:0017656""",autosomal recessive spastic paraplegia type 61,['spg61'] +"""GARD:0017657""",autosomal recessive spastic paraplegia type 62,['spg62'] +"""GARD:0017658""",autosomal recessive spastic paraplegia type 63,['spg63'] +"""GARD:0017659""",autosomal recessive spastic paraplegia type 64,['spg64'] +"""GARD:0017660""",autosomal spastic paraplegia type 72,['spg72'] +"""GARD:0017661""",multiple mitochondrial dysfunctions syndrome type 1,"['mmds1', 'nfu1 deficiency']" +"""GARD:0017662""",multiple mitochondrial dysfunctions syndrome type 2,"['bola3 deficiency', 'mmds2']" +"""GARD:0017663""",familial median cleft of the upper and lower lips,[] +"""GARD:0017664""",moyamoya disease with early-onset achalasia,[] +"""GARD:0017665""",episodic ataxia with slurred speech,['episodic ataxia type 8'] +"""GARD:0017666""",mend syndrome,['male ebp disorder with neurological defects'] +"""GARD:0017667""","autosomal recessive spondylometaphyseal dysplasia, mégarbané type",[] +"""GARD:0017668""",1p31p32 microdeletion syndrome,"['del(1)(p31p32)', 'monosomy 1p31p32']" +"""GARD:0017669""",autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,[] +"""GARD:0017670""",familial bicuspid aortic valve,['familial bav'] +"""GARD:0017671""",progressive myoclonic epilepsy type 5,"['epm5', 'pme type 5', 'progressive myoclonus epilepsy type 5']" +"""GARD:0017672""",diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,[] +"""GARD:0017673""",intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency,[] +"""GARD:0017674""",tatton-brown-rahman syndrome,"['dnmt3a-related overgrowth syndrome', 'tatton-brown-rahman overgrowth syndrome']" +"""GARD:0017675""",female infertility due to zona pellucida defect,[] +"""GARD:0017676""",global developmental delay-lung cysts-overgrowth-wilms tumor syndrome,['glow syndrome'] +"""GARD:0017677""",autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency,"['scar23', 'spinocerebellar ataxia autosomal recessive type 23']" +"""GARD:0017678""",autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn deficiency,"['autosomal recessive spinocerebellar ataxia type 15', 'scar15', 'salih ataxia']" +"""GARD:0017679""",ditra,"['deficiency of il-36r antagonist', 'deficiency of il-36ra']" +"""GARD:0017680""",pontocerebellar hypoplasia type 10,"['clp1-related pontocerebellar hypoplasia', 'pch10']" +"""GARD:0017681""",mild phosphoribosylpyrophosphate synthetase superactivity,"['mild prpp synthetase superactivity', 'mild prps1 superactivity']" +"""GARD:0017682""",severe phosphoribosylpyrophosphate synthetase superactivity,"['severe prpp synthetase superactivity', 'severe prps1 superactivity']" +"""GARD:0017683""",wolfram-like syndrome,[] +"""GARD:0017684""",hereditary late-onset parkinson disease,"['autosomal dominant late-onset parkinson disease', 'lopd']" +"""GARD:0017685""",juvenile nephropathic cystinosis,"['intermediate cystinosis', 'juvenile cystinosis']" +"""GARD:0017686""",maternal riboflavin deficiency,[] +"""GARD:0017687""",early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,['epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome'] +"""GARD:0017688""",facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,"['fdlab syndrome', 'facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome', 'traboulsi syndrome']" +"""GARD:0017689""",autosomal recessive cerebellar ataxia due to stub1 deficiency,"['scar16', 'spinocerebellar ataxia autosomal recessive type 16']" +"""GARD:0017690""",epidermolysis bullosa simplex due to bp230 deficiency,"['dst-related epidermolysis bullosa simplex', 'ebs due to bp230 deficiency']" +"""GARD:0017691""",epidermolysis bullosa simplex due to exophilin 5 deficiency,['ebs due to exophilin 5 deficiency'] +"""GARD:0017692""",primary failure of tooth eruption,"['pfe', 'primary retention of teeth']" +"""GARD:0017693""",cranio-cervical dystonia with laryngeal and upper-limb involvement,"['dyt24', 'dystonia 24']" +"""GARD:0017694""","adult-onset cervical dystonia, dyt23 type","['dyt23', 'dystonia 23']" +"""GARD:0017695""",bleeding disorder due to caldag-gefi deficiency,['bleeding disorder due to calcium- and dag-regulated guanine exchange factor-1 deficiency'] +"""GARD:0017696""",severe combined immunodeficiency due to ctps1 deficiency,['scid due to ctps1 deficiency'] +"""GARD:0017697""",woolly hair-palmoplantar keratoderma syndrome,"['kwwh type iv', 'keratoderma with woolly hair type iv', 'woolly hair-palmoplantar hyperkeratosis syndrome']" +"""GARD:0017698""",autosomal recessive severe congenital neutropenia due to csf3r deficiency,[] +"""GARD:0017699""",combined oxidative phosphorylation defect type 20,['coxpd20'] +"""GARD:0017700""",combined oxidative phosphorylation defect type 21,['coxpd21'] +"""GARD:0017701""",riddle syndrome,"['rnf168 deficiency', 'radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome']" +"""GARD:0017702""",autosomal recessive severe congenital neutropenia due to jagn1 deficiency,[] +"""GARD:0017703""",nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,"['ectodermal dysplasia-short stature syndrome', 'short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome']" +"""GARD:0017704""",mucolipidosis type iii alpha/beta,"['ml 3 alpha/beta', 'ml iii alpha/beta', 'mucolipidosis type 3 alpha/beta']" +"""GARD:0017705""",mucolipidosis type iii gamma,"['ml 3 gamma', 'ml iii gamma', 'mucolipidosis type 3 gamma']" +"""GARD:0017706""",progressive myoclonic epilepsy type 8,"['epm8', 'pme type 8', 'progressive myoclonic epilepsy due to cers1 deficiency', 'progressive myoclonus epilepsy type 8']" +"""GARD:0017707""",colobomatous microphthalmia-rhizomelic dysplasia syndrome,['microphthalmia-coloboma-rhizomelic skeletal dysplasia'] +"""GARD:0017708""",tor1aip1-related limb-girdle muscular dystrophy,"['autosomal recessive limb-girdle muscular dystrophy type 2y', 'autosomal recessive muscular dystrophy due to lap1b deficiency', 'autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency', 'lgmd type 2y', 'lgmd2y', 'muscular dystrophy with progressive weakness; distal contractures and rigid spine', 'tor1aip1-related lgmd']" +"""GARD:0017709""",x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,['x-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome'] +"""GARD:0017710""",combined immunodeficiency due to ox40 deficiency,"['combined immunodeficiency with childhood-onset kaposi sarcoma', 'combined immunodeficiency with impaired immunity to hhv-8', 'combined immunodeficiency with impaired immunity to human herpes virus 8']" +"""GARD:0017711""",primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,['primary immunodeficiency with post-mmr vaccine viral infection'] +"""GARD:0017712""",autosomal recessive spastic paraplegia type 57,"['spg57', 'spastic paraplegia due to partial tfg deficiency']" +"""GARD:0017713""",familial ossifying fibroma,['multiple ossifying fibroma'] +"""GARD:0017714""",autosomal dominant charcot-marie-tooth disease type 2y,"['autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation', 'cmt2 due to vcp mutation', 'cmt2y']" +"""GARD:0017715""",progressive myoclonic epilepsy type 7,"['epm7', 'meak', 'myoclonus epilepsy and ataxia due to potassium channel mutation', 'pme type 7', 'progressive myoclonic epilepsy due to kv3.1 deficiency', 'progressive myoclonus epilepsy type 7']" +"""GARD:0017716""",keppen-lubinsky syndrome,['generalized lipodystrophy-progeroid features-severe intellectual disability syndrome'] +"""GARD:0017717""",short stature-advanced bone age-early-onset osteoarthritis syndrome,[] +"""GARD:0017718""",lethal neonatal spasticity-epileptic encephalopathy syndrome,['lethal neonatal rigidity-multifocal seizure syndrome'] +"""GARD:0017719""",colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,[] +"""GARD:0017720""",cog2-cdg,['cog2-related congenital disorder of glycosylation'] +"""GARD:0017721""",x-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,[] +"""GARD:0017722""",progeroid features-hepatocellular carcinoma predisposition syndrome,['ruijs-aalfs syndrome'] +"""GARD:0017723""",autosomal recessive intermediate charcot-marie-tooth disease type d,['ri-cmt type d'] +"""GARD:0017724""",intellectual disability-expressive aphasia-facial dysmorphism syndrome,['intellectual disability-loss of expressive language-facial dysmorphism syndrome'] +"""GARD:0017725""",periodic fever-infantile enterocolitis-autoinflammatory syndrome,"['nlrc4-related mas', 'nlrc4-related autoinflammatory syndrome with mas', 'nlrc4-related autoinflammatory syndrome with macrophage activation syndrome', 'nlrc4-related infantile enterocolitis-autoinflammatory syndrome', 'nlrc4-related macrophage activation syndrome']" +"""GARD:0017726""",thrombomodulin-related bleeding disorder,"['thbd-related bleeding disorder', 'thbd-related coagulopathy', 'thrombomodulin-related coagulopathy']" +"""GARD:0017727""",cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,['cagsss'] +"""GARD:0017728""",microcephalic primordial dwarfism-insulin resistance syndrome,[] +"""GARD:0017729""",familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease,[] +"""GARD:0017730""",retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,['retinal dystrophy-juvenile cataract-short stature syndrome'] +"""GARD:0017731""",combined immunodeficiency-enteropathy spectrum,['cid-mia/early-onset ibd'] +"""GARD:0017732""",autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,"['autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity', 'cd16 deficiency']" +"""GARD:0017733""",ketoacidosis due to monocarboxylate transporter-1 deficiency,[] +"""GARD:0017734""",rars-related autosomal recessive hypomyelinating leukodystrophy,[] +"""GARD:0017735""",steel syndrome,['bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome'] +"""GARD:0017736""",pcna-related progressive neurodegenerative photosensitivity syndrome,[] +"""GARD:0017737""",stat3-related early-onset multisystem autoimmune disease,[] +"""GARD:0017738""",severe autosomal recessive macrothrombocytopenia,[] +"""GARD:0017739""",pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome,[] +"""GARD:0017740""",pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,[] +"""GARD:0017741""",itm2b amyloidosis,"['familial cerebral amyloid angiopathy', 'itm2b-related amyloidosis', 'itm2b-related cerebral amyloid angiopathy']" +"""GARD:0017742""",pde4d haploinsufficiency syndrome,[] +"""GARD:0017743""",lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,[] +"""GARD:0017744""",interstitial lung disease due to sp-c deficiency,['interstitial lung disease due to surfactant protein c deficiency'] +"""GARD:0017745""",interstitial lung disease due to abca3 deficiency,['interstitial lung disease due to atp-binding cassette subfamily a member 3 deficiency'] +"""GARD:0017746""",severe early-onset pulmonary alveolar proteinosis due to mars deficiency,"['hereditary pulmonary alveolar proteinosis with hepatic involvement', 'interstitial lung and liver disease', 'pap; reunion island type', 'pulmonary alveolar proteinosis; reunion island type']" +"""GARD:0017747""",ribose-5-p isomerase deficiency,[] +"""GARD:0017748""",l-ferritin deficiency,[] +"""GARD:0017749""",sporadic porphyria cutanea tarda,['porphyria cutanea tarda type i'] +"""GARD:0017750""",familial porphyria cutanea tarda,['porphyria cutanea tarda type ii'] +"""GARD:0017751""",charcot-marie-tooth disease type 2s,['cmt2s'] +"""GARD:0017752""","46,xy disorder of sex development due to testicular 17,20-desmolase deficiency",[] +"""GARD:0017753""",hyperostosis cranialis interna,[] +"""GARD:0017754""",classic stiff person syndrome,['classic sps'] +"""GARD:0017755""",x-linked erythropoietic protoporphyria,"['x-linked dominant erythropoietic protoporphyria', 'x-linked dominant protoporphyria', 'xldpp', 'xlpp']" +"""GARD:0017756""",focal stiff limb syndrome,"['focal stiff-person syndrome', 'stiff leg syndrome']" +"""GARD:0017757""",ventriculomegaly-cystic kidney disease,"['congenital nephrosis-cerebral ventriculomegaly syndrome', 'vmckd']" +"""GARD:0017758""",mandibulofacial dysostosis with alopecia,['mfda'] +"""GARD:0017759""",combined oxidative phosphorylation defect type 23,['coxpd23'] +"""GARD:0017760""","46,xx ovarian dysgenesis-short stature syndrome",[] +"""GARD:0017761""",cerebellar-facial-dental syndrome,['cerebellofaciodental syndrome'] +"""GARD:0017762""",autoimmune interstitial lung disease-arthritis syndrome,['copa syndrome'] +"""GARD:0017763""",autosomal dominant spastic paraplegia type 73,['spg73'] +"""GARD:0017764""",peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,['plack syndrome'] +"""GARD:0017765""",combined oxidative phosphorylation defect type 24,['coxpd24'] +"""GARD:0017766""",autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome,"['evans syndrome associated with primary immunodeficiency', 'tppii deficiency', 'tppii-related immunodeficiency; autoimmunity; and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease', 'triangle disease', 'tripeptidyl-peptidase ii deficiency']" +"""GARD:0017767""",3-methylglutaconic aciduria type 7,"['3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome', 'mga7']" +"""GARD:0017768""",juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,"['combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome', 'combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome']" +"""GARD:0017769""",limb-girdle muscular dystrophy due to pomk deficiency,['lgmd due to pomk deficiency'] +"""GARD:0017770""",autosomal recessive spastic paraplegia type 9b,['ar-spg9b'] +"""GARD:0017771""",mitochondrial pyruvate carrier deficiency,[] +"""GARD:0017772""",polymerase proofreading-related adenomatous polyposis,['ppap'] +"""GARD:0017773""",hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,[] +"""GARD:0017774""",tremor-ataxia-central hypomyelination syndrome,['tach syndrome'] +"""GARD:0017775""",combined oxidative phosphorylation defect type 25,['coxpd25'] +"""GARD:0017776""",pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,[] +"""GARD:0017777""",autosomal dominant charcot-marie-tooth disease type 2v,"['autosomal dominant charcot-marie-tooth disease type 2 due to naglu mutation', 'cmt2v', 'hereditary adult-onset painful axonal polyneuropathy']" +"""GARD:0017778""",klippel-feil anomaly-myopathy-facial dysmorphism syndrome,[] +"""GARD:0017779""",progressive scapulohumeroperoneal distal myopathy,[] +"""GARD:0017780""",progressive autosomal recessive ataxia-deafness syndrome,"['lichtenstein-knorr syndrome', 'progressive autosomal recessive ataxia-sensorineural hearing loss syndrome', 'scar19']" +"""GARD:0017781""",isolated focal non-epidermolytic palmoplantar keratoderma,[] +"""GARD:0017782""",regressive spondylometaphyseal dysplasia,[] +"""GARD:0017783""",symptomatic form of fragile x syndrome in female carriers,[] +"""GARD:0017784""",familial congenital nasolacrimal duct obstruction,[] +"""GARD:0017785""",neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome,['au-kline syndrome'] +"""GARD:0017786""",autosomal recessive cerebellar ataxia due to cwf19l1 deficiency,"['scar17', 'spinocerebellar ataxia autosomal recessive type 17']" +"""GARD:0017787""",polyendocrine-polyneuropathy syndrome,[] +"""GARD:0017788""",acquired creutzfeldt-jakob disease,[] +"""GARD:0017789""",pleomorphic salivary gland adenoma,[] +"""GARD:0017790""",nthl1-related attenuated familial adenomatous polyposis,"['nthl1-related afap', 'nthl1-related attenuated fap']" +"""GARD:0017791""",infantile multisystem neurologic-endocrine-pancreatic disease,['imnepd'] +"""GARD:0017792""",x-linked myotubular myopathy-abnormal genitalia syndrome,['xq28 contiguous gene deletion syndrome'] +"""GARD:0017793""",polyglucosan body myopathy type 2,[] +"""GARD:0017794""",autosomal dominant mitochondrial myopathy with exercise intolerance,[] +"""GARD:0017795""",predisposition to invasive fungal disease due to card9 deficiency,['invasive candidiasis-deep dermatophytosis syndrome'] +"""GARD:0017796""",neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,['coq4-related neonatal encephalomyopathy'] +"""GARD:0017797""",autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome,[] +"""GARD:0017798""",progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,[] +"""GARD:0017799""",syndromic sensorineural deafness due to combined oxidative phosphorylation defect,"['syndromic sensorineural deafness due to coxpd', 'syndromic sensorineural hearing loss due to coxpd']" +"""GARD:0017800""",x-linked intellectual disability-short stature-overweight syndrome,[] +"""GARD:0017801""",progressive myoclonic epilepsy type 9,"['epm9', 'pme type 9', 'progressive myoclonic epilepsy due to lmnb2 deficiency', 'progressive myoclonus epilepsy type 9']" +"""GARD:0017802""",intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,[] +"""GARD:0017803""",microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,[] +"""GARD:0017804""",microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,['microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome'] +"""GARD:0017805""",megalencephaly-severe kyphoscoliosis-overgrowth syndrome,[] +"""GARD:0017806""",itpa-related lethal infantile neurological disorder with cataract and cardiac involvement,['martsolf-like syndrome'] +"""GARD:0017807""",complex lethal osteochondrodysplasia,['complex lethal osteochondrodysplasia; symoens-barnes-gistelinck type'] +"""GARD:0017808""",progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,[] +"""GARD:0017809""",multiple mitochondrial dysfunctions syndrome type 4,['mmds4'] +"""GARD:0017810""",spinocerebellar ataxia type 41,['sca41'] +"""GARD:0017811""",spinocerebellar ataxia type 42,['sca42'] +"""GARD:0017812""","spondyloepiphyseal dysplasia, stanescu type",['sed; stanescu type'] +"""GARD:0017813""",autosomal recessive spastic paraplegia type 75,['spg75'] +"""GARD:0017814""",craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,"['developmental delay-short stature-dysmorphic features-sparse hair syndrome', 'loucks-innes syndrome']" +"""GARD:0017815""",x-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,[] +"""GARD:0017816""",spastic paraplegia-severe developmental delay-epilepsy syndrome,"['spprs syndrome', 'spastic paraplegia-psychomotor retardation-seizures syndrome']" +"""GARD:0017817""",short stature-brachydactyly-obesity-global developmental delay syndrome,['sbidds'] +"""GARD:0017818""",nek9-related lethal skeletal dysplasia,['lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome'] +"""GARD:0017819""","primary dystonia, dyt27 type",[] +"""GARD:0017820""",fever-associated acute infantile liver failure syndrome,[] +"""GARD:0017821""",basel-vanagaite-smirin-yosef syndrome,[] +"""GARD:0017822""",familial cavitary optic disc anomaly,['familial coda'] +"""GARD:0017823""",fetal encasement syndrome,[] +"""GARD:0017824""",severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,[] +"""GARD:0017825""",tmem199-cdg,"['cdg syndrome type iip', 'cdg-iip', 'cdg2p', 'carbohydrate deficient glycoprotein syndrome type iip', 'congenital disorder of glycosylation type 2p', 'congenital disorder of glycosylation type iip']" +"""GARD:0017826""",martinique crinkled retinal pigment epitheliopathy,['mcrpe'] +"""GARD:0017827""",autosomal recessive spastic paraplegia type 77,['spg77'] +"""GARD:0017828""",familial patent arterial duct,[] +"""GARD:0017829""",autosomal dominant charcot-marie-tooth disease type 2z,"['autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation', 'cmt2z']" +"""GARD:0017830""",autosomal recessive charcot-marie-tooth disease type 2x,"['arcmt2x', 'autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation', 'cmt2x']" +"""GARD:0017831""",neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,"['coxpd28', 'combined oxidative phosphorylation defect type 28']" +"""GARD:0017832""",macrocephaly-intellectual disability-left ventricular non compaction syndrome,[] +"""GARD:0017833""",acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,"['autosomal recessive spinocerebellar ataxia type 21', 'scar21']" +"""GARD:0017834""",lims2-related limb-girdle muscular dystrophy,"['autosomal recessive limb-girdle muscular dystrophy type 2w', 'lgmd type 2w', 'lgmd2w', 'lims2-related lgm', 'limb-girdle muscular dystrophy type 2w']" +"""GARD:0017835""",autosomal dominant thrombocytopenia with platelet secretion defect,[] +"""GARD:0017836""",seizures-scoliosis-macrocephaly syndrome,['ssm syndrome'] +"""GARD:0017837""",vps11-related autosomal recessive hypomyelinating leukodystrophy,['vps11-related autosomal recessive hypomyelinating leukoencephalopathy'] +"""GARD:0017838""",wac-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,[] +"""GARD:0017839""",facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to wac point mutation,[] +"""GARD:0017840""",severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,[] +"""GARD:0017841""",microcephalic cortical malformations-short stature due to rttn deficiency,[] +"""GARD:0017842""",autosomal recessive spastic paraplegia type 74,['spg74'] +"""GARD:0017843""",isolated generalized anhidrosis with normal sweat glands,[] +"""GARD:0017844""",colobomatous macrophthalmia-microcornea syndrome,['macom syndrome'] +"""GARD:0017845""",ccdc115-cdg,"['cdg syndrome type iio', 'cdg-iio', 'cdg2o', 'carbohydrate deficient glycoprotein syndrome type iio', 'congenital disorder of glycosylation type 2o', 'congenital disorder of glycosylation type iio']" +"""GARD:0017846""",slc39a8-cdg,"['cdg syndrome type iin', 'cdg-iin', 'cdg2n', 'carbohydrate deficient glycoprotein syndrome type iin', 'congenital disorder of glycosylation type 2n', 'congenital disorder of glycosylation type iin', 'slc39a8 deficiency']" +"""GARD:0017847""",bves-related limb-girdle muscular dystrophy,"['autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome', 'bves-related lgmd', 'lgmd type 2x', 'lgmd2x', 'limb-girdle muscular dystrophy 2x']" +"""GARD:0017848""",hereditary pediatric behçet-like disease,"['behçet-like disease due to ha20', 'behçet-like disease due to haploinsufficiency of a20']" +"""GARD:0017849""",combined immunodeficiency due to tfrc deficiency,"['cid due to tfrc deficiency', 'tfrc-related combined immunodeficiency']" +"""GARD:0017850""",micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,[] +"""GARD:0017851""",pmp2-related charcot-marie-tooth disease type 1,"['pmp2-related cmt1', 'pmp2-related charcot-marie-tooth neuropathy type 1', 'pmp2-related hereditary motor and sensory neuropathy type 1']" +"""GARD:0017852""",il21-related infantile inflammatory bowel disease,['il21-related infantile ibd'] +"""GARD:0017853""",postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,[] +"""GARD:0017854""",combined oxidative phosphorylation defect type 26,['coxpd26'] +"""GARD:0017855""",pontine autosomal dominant microangiopathy with leukoencephalopathy,['padmal'] +"""GARD:0017856""",combined oxidative phosphorylation defect type 27,['coxpd27'] +"""GARD:0017857""",cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder,"['pla2g4a-related platelet dysfunction', 'platelet dysfunction due to cytosolic phospholipase-a2 alpha deficiency']" +"""GARD:0017858""",progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,[] +"""GARD:0017859""",pmp22-rai1 contiguous gene duplication syndrome,"['17p11.2p12 microduplication syndrome', 'dup(17)(p11.2p12)', 'trisomy 17p11.2-p12', 'trisomy 17p11.2p12', 'yuan-harel-lupski syndrome']" +"""GARD:0017860""",kosaki overgrowth syndrome,['skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome'] +"""GARD:0017861""",autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete rorgamma receptor deficiency,"['autosomal recessive msmd due to complete rorgamma receptor defiency', 'autosomal recessive primary immunodeficiency due to rorc mutation']" +"""GARD:0017862""",palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,['palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome'] +"""GARD:0017863""",combined oxidative phosphorylation defect type 29,['coxpd29'] +"""GARD:0017864""",combined oxidative phosphorylation defect type 30,['coxpd30'] +"""GARD:0017865""",lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,[] +"""GARD:0017866""",hereditary sensory and autonomic neuropathy type 8,"['hsan8', 'hereditary sensory and autonomic neuropathy type viii']" +"""GARD:0017867""",progressive familial intrahepatic cholestasis type 5,"['nr1h4 deficiency', 'pfic5']" +"""GARD:0017868""",msh3-related attenuated familial adenomatous polyposis,"['msh3-related afap', 'msh3-related attenuated fap', 'msh3-related attenuated familial polyposis coli']" +"""GARD:0017869""",poglut1-related limb-girdle muscular dystrophy r21,"['autosomal recessive limb-girdle muscular dystrophy type 2z', 'lgmd type 2z', 'lgmd2z', 'limb-girdle muscular dystrophy type 2z', 'poglut1-related lgmd r21']" +"""GARD:0017870""",hereditary thrombocytopenia with early-onset myelofibrosis,[] +"""GARD:0017871""",global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,[] +"""GARD:0017872""",x-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,[] +"""GARD:0017873""",pycr2-related microcephaly-progressive leukoencephalopathy,[] +"""GARD:0017874""",familial chilblain lupus,[] +"""GARD:0017875""",usp18 deficiency,[] +"""GARD:0017876""",familial schizencephaly,[] +"""GARD:0017877""",htra1-related autosomal dominant cerebral small vessel disease,['htra1-related autosomal dominant cerebral angiopathy'] +"""GARD:0017878""",adenylosuccinate synthetase-like 1-related distal myopathy,['adssl1-related distal myopathy'] +"""GARD:0017879""",acquired schizencephaly,[] +"""GARD:0017880""",clcn4-related x-linked intellectual disability syndrome,['raynaud-claes syndrome'] +"""GARD:0017881""",mff-related encephalopathy due to mitochondrial and peroxisomal fission defect,"['leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome', 'leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome']" +"""GARD:0017882""",prenatal-onset spinal muscular atrophy with congenital bone fractures,['smabf'] +"""GARD:0017883""",congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,['congenital muscular dystrophy; davignon-chauveau type'] +"""GARD:0017884""",macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome,['takenouchi-kosaki syndrome'] +"""GARD:0017885""",pierpont syndrome,"['plantar lipomatosis-facial dysmorphism-developmental delay syndrome', 'plantar lipomatosis-unusual facies-developmental delay syndrome']" +"""GARD:0017886""",microcephaly-congenital cataract-psoriasiform dermatitis syndrome,"['smo deficiency', 'sterol-c4-methyl oxidase deficiency']" +"""GARD:0017887""",female infertility due to oocyte meiotic arrest,[] +"""GARD:0017888""",familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,[] +"""GARD:0017889""",split-foot malformation-mesoaxial polydactyly syndrome,"['sfmmp', 'split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome']" +"""GARD:0017890""",14q32 duplication syndrome,"['dup(14)q(32)', 'predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication', 'trisomy 14q32']" +"""GARD:0017891""",autosomal dominant charcot-marie-tooth disease type 2w,"['autosomal dominant charcot-marie-tooth disease type 2 due to hars mutation', 'cmt2w']" +"""GARD:0017892""",autosomal recessive spastic paraplegia type 76,['spg76'] +"""GARD:0017893""",global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,[] +"""GARD:0017894""",transketolase deficiency,"['short stature-developmental delay-congenital heart defect syndrome', 'tkt deficiency']" +"""GARD:0017895""",severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,[] +"""GARD:0017896""",tbck-related intellectual disability syndrome,[] +"""GARD:0017897""",early-onset epilepsy-intellectual disability-brain anomalies syndrome,"['congenital disorder of glycosylation due to pigg deficiency', 'pigg-cdg']" +"""GARD:0017898""",telo2-related intellectual disability-neurodevelopmental disorder,['you-hoover-fong syndrome'] +"""GARD:0017899""",ddx41-related hematologic malignancy predisposition syndrome,[] +"""GARD:0017900""","distal myopathy, tateyama type",[] +"""GARD:0017901""",vibratory angioedema,[] +"""GARD:0017902""",rere-related neurodevelopmental syndrome,[] +"""GARD:0017903""",retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,['retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome'] +"""GARD:0017904""",diaph1-related sensorineural hearing loss-thrombocytopenia syndrome,['diaph1-related sensorineural deafness-thrombocytopenia syndrome'] +"""GARD:0017905""",infantile-onset generalized dyskinesia with orofacial involvement,['infantile-onset orofacial-trunk-limbs dyskinesia'] +"""GARD:0017906""",childhood-onset benign chorea with striatal involvement,[] +"""GARD:0017907""",squamous cell carcinoma of the hypopharynx,[] +"""GARD:0017908""",squamous cell carcinoma of the larynx,[] +"""GARD:0017909""",charcot-marie-tooth disease type 2t,"['ar-cmt2t', 'autosomal recessive axonal charcot-marie-tooth disease type 2t', 'cmt2t']" +"""GARD:0017910""",c11orf73-related autosomal recessive hypomyelinating leukodystrophy,"['c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy', 'hypomyelinating leukodystrophy due to hikeshi deficiency']" +"""GARD:0017911""",early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,[] +"""GARD:0017912""",kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,[] +"""GARD:0017913""",even-plus syndrome,['epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome'] +"""GARD:0017914""",early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,[] +"""GARD:0017915""",ocular anomalies-axonal neuropathy-developmental delay syndrome,['harel-yoon syndrome'] +"""GARD:0017916""",mme-related autosomal dominant charcot marie tooth disease type 2,"['mme-related autosomal dominant cmt2', 'mme-related autosomal dominant hereditary motor and sensory neuropathy type 2']" +"""GARD:0017917""",spinocerebellar ataxia type 43,['sca43'] +"""GARD:0017918""",childhood-onset basal ganglia degeneration syndrome,['lenk-ploski syndrome'] +"""GARD:0017919""",short rib-polydactyly syndrome type 5,[] +"""GARD:0017920""",16p13.2 microdeletion syndrome,"['del(16)(p13.2)', 'monosomy 16p13.2']" +"""GARD:0017921""",tall stature-intellectual disability-renal anomalies syndrome,['thauvin-robinet-faivre syndrome'] +"""GARD:0017922""",multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,['march syndrome'] +"""GARD:0017923""",early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,[] +"""GARD:0017924""",microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,[] +"""GARD:0017925""",sin3a-related intellectual disability syndrome due to a point mutation,[] +"""GARD:0017926""",x-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,[] +"""GARD:0017927""",squamous cell carcinoma of the nasal cavity and paranasal sinuses,['squamous cell carcinoma of the nasal cavity and sinuses'] +"""GARD:0017928""",squamous cell carcinoma of the oropharynx,[] +"""GARD:0017929""",squamous cell carcinoma of salivary glands,[] +"""GARD:0017930""",severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,[] +"""GARD:0017931""",osteosclerotic metaphyseal dysplasia,[] +"""GARD:0017932""",squamous cell carcinoma of the oral cavity,[] +"""GARD:0017933""",squamous cell carcinoma of the lip,[] +"""GARD:0017934""",mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,['mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome'] +"""GARD:0017935""",stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,[] +"""GARD:0017936""",alkaline ceramidase 3 deficiency,"['acer3-related early childhood-onset progressive leukodystrophy', 'leukodystrophy due to alkaline ceramidase 3 deficiency']" +"""GARD:0017937""",cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,"['cabv syndrome', 'canvas', 'cerebellar ataxia with bilateral vestibulopathy syndrome']" +"""GARD:0017938""",severe combined immunodeficiency due to lat deficiency,['scid due to lat deficiency'] +"""GARD:0017939""",combined immunodeficiency due to moesin deficiency,"['cid due to moesin deficiency', 'msn-related combined immunodeficiency', 'x-linked moesin-associated immunodeficiency']" +"""GARD:0017940""",3-methylglutaconic aciduria type 9,"['3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome', 'mga9']" +"""GARD:0017941""",combined immunodeficiency due to gins1 deficiency,"['cid due to gins1 deficiency', 'combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia', 'combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia']" +"""GARD:0017942""",early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,[] +"""GARD:0017943""",psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,['cerebrorenal syndrome; perez type'] +"""GARD:0017944""",mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,['mucopolysaccharidosis-like plus disease'] +"""GARD:0017945""",stromme syndrome,"['apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome', 'jejunal atresia-microcephaly-ocular anomalies syndrome']" +"""GARD:0017946""",autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction,['autosomal recessive complex spg due to kennedy pathway dysfunction'] +"""GARD:0017947""",gabriele-de vries syndrome,['yy1 haploinsufficiency syndrome'] +"""GARD:0017948""",intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,[] +"""GARD:0017949""",intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,[] +"""GARD:0017950""",hyperphenylalaninemia due to dnajc12 deficiency,['non-phenylketonuric non-bh4-deficiency hyperphenylalaninemia'] +"""GARD:0017951""",intermediate epidermolysis bullosa simplex with cardiomyopathy,['intermediate ebs with cardiomyopathy'] +"""GARD:0017952""",autosomal recessive spastic paraplegia type 78,['spg78'] +"""GARD:0017953""",intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,['skraban-deardorff syndrome'] +"""GARD:0017954""",autosomal recessive anterior segment dysgenesis,[] +"""GARD:0017955""",xq25 microduplication syndrome,"['dup(x)(q25)', 'xq25 microtriplication']" +"""GARD:0017956""",proximal myopathy with focal depletion of mitochondria,[] +"""GARD:0017957""",spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,['sino syndrome'] +"""GARD:0017958""",dystonia-parkinsonism-hypermanganesemia syndrome,[] +"""GARD:0017959""",autosomal dominant charcot-marie-tooth disease type 2dd,"['atp1a1-related cmt2', 'atp1a1-related autosomal dominant charcot-marie-tooth disease type 2', 'cmt2dd']" +"""GARD:0017960""",plaa-associated neurodevelopmental disorder,['plaand'] +"""GARD:0017961""",congenital vertebral-cardiac-renal anomalies syndrome,['congenital nad deficiency disorder'] +"""GARD:0017962""",infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,['syt1-related neurodevelopmental disorder'] +"""GARD:0017963""",severe myopia-generalized joint laxity-short stature syndrome,[] +"""GARD:0017964""",nkx6-2-related autosomal recessive hypomyelinating leukodystrophy,"['autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia', 'spax8']" +"""GARD:0017965""",non-specific syndromic intellectual disability,['complex neurodevelopmental disorder'] +"""GARD:0017966""",hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,[] +"""GARD:0017967""",hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,['helix syndrome'] +"""GARD:0017968""",duane retraction syndrome with congenital deafness,"['drs with deafness', 'drs with hearing loss', 'durs with deafness', 'durs with hearing loss', 'duane retraction syndrome with congenital hearing loss']" +"""GARD:0017969""",neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,['gpaa1-related biosynthesis defect'] +"""GARD:0017970""",intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,['pilarowski-bjornsson syndrome'] +"""GARD:0017971""",male infertility due to acephalic spermatozoa,['acephalic spermatozoa syndrome'] +"""GARD:0017972""",mixed phenotype acute leukemia,['mpal'] +"""GARD:0017973""",familial gpihbp1 deficiency,['familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency'] +"""GARD:0017974""",b3galt6-related spondylodysplastic ehlers-danlos syndrome,"['b3galt6-related speds', 'b3galt6-related spondylodysplastic eds', 'beta3galt6-deficient eds', 'ehlers-danlos syndrome progeroid type 2', 'speds-b3galt6']" +"""GARD:0017975""",classical-like ehlers-danlos syndrome type 2,"['aebp1-related eds', 'aebp1-related ehlers-danlos syndrome', 'classical-like eds type 2', 'cleds type 2']" +"""GARD:0017976""",autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy,[] +"""GARD:0017977""",palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,['palmoplantar keratoderma-charcot-marie-tooth syndrome'] +"""GARD:0017978""",combined immunodeficiency due to cd70 deficiency,['cid due to cd70 deficiency'] +"""GARD:0017979""",combined immunodeficiency due to itk deficiency,"['autosomal recessive lymphoproliferative disease due to itk deficiency', 'itk deficiency']" +"""GARD:0017980""",growth delay-intellectual disability-hepatopathy syndrome,[] +"""GARD:0017981""",combined immunodeficiency due to carmil2 deficiency,['combined immunodeficiency due to rltpr deficiency'] +"""GARD:0017982""",gnb5-related intellectual disability-cardiac arrhythmia syndrome,[] +"""GARD:0017983""",auditory neuropathy-optic atrophy syndrome,[] +"""GARD:0017984""",isolated hyperchlorhidrosis,['carbonic anhydrase xii deficiency'] +"""GARD:0017985""",prune1-related neurological syndrome,[] +"""GARD:0017986""",atypical hemolytic uremic syndrome with complement gene abnormality,"['atypical hus with complement gene abnormality', 'ahus with complement gene abnormality']" +"""GARD:0017987""",global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,"['bachmann-bupp syndrome', 'ornithine decarboxylase deficiency']" +"""GARD:0017988""",rnf13-related severe early-onset epileptic encephalopathy,['rnf13-related severe eoee'] +"""GARD:0017989""",congenital myopathy with reduced type 2 muscle fibers,"['congenital myopathy with fast-twitch fiber atrophy', 'congenital myopathy with reduced type ii muscle fibers', 'congenital myopathy with type 2 muscle fiber atrophy', 'congenital myopathy with type ii fiber atrophy']" +"""GARD:0017990""",nad(p)hx dehydratase deficiency,['carkd deficiency'] +"""GARD:0017991""",nad(p)hx epimerase deficiency,['apolipoprotein a-i binding protein deficiency'] +"""GARD:0017992""",pancreatic agenesis-holoprosencephaly syndrome,[] +"""GARD:0017993""",oculocerebrodental syndrome,['oculo-cerebro-dental syndrome'] +"""GARD:0017994""",neonatal epileptic encephalopathy due to glutaminase deficiency,[] +"""GARD:0017995""",heme oxygenase-1 deficiency,['ho-1 deficiency'] +"""GARD:0017996""",autosomal recessive extra-oral halitosis,"['mto-deficiency', 'methanethiol oxidase deficiency']" +"""GARD:0017997""",anterior maxillary protrusion-strabismus-intellectual disability syndrome,['mrams syndrome'] +"""GARD:0017998""",tmem94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome,[] +"""GARD:0017999""",combined oxidative phosphorylation defect type 39,"['coxpd39', 'gfm2-related combined oxidative phosphorylation defect']" +"""GARD:0018000""",infantile inflammatory bowel disease with neurological involvement,[] +"""GARD:0018001""",craniosynostosis-microretrognathia-severe intellectual disability syndrome,[] +"""GARD:0018002""",resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,"['rthb', 'resistance to thyroid hormone beta', 'resistance to thyroid hormone due to a mutation in trb']" +"""GARD:0018003""",idiopathic steroid-resistant nephrotic syndrome,['idiopathic srns'] +"""GARD:0018004""",multiple mitochondrial dysfunctions syndrome type 6,['pmpcb deficiency'] +"""GARD:0018005""",galactose mutarotase deficiency,"['galm deficiency', 'galactosemia type 4']" +"""GARD:0018006""",qrsl1-related combined oxidative phosphorylation defect,['qrsl1-related coxpd'] +"""GARD:0018007""",posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,[] +"""GARD:0018008""",blepharophimosis-ptosis-epicanthus inversus syndrome type 1,"['bpes type 1', 'blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure']" +"""GARD:0018009""",brachydactyly type b1,[] +"""GARD:0018010""",rfvt2-related riboflavin transporter deficiency,"['rtd2', 'riboflavin transporter deficiency 2']" +"""GARD:0018011""",microcephaly-micromelia syndrome,['mimis'] +"""GARD:0018012""",wars2-related combined oxidative phosphorylation defect,['mitochondrial tryptophanyl-trna synthetase deficiency'] +"""GARD:0018013""",satb2-associated syndrome due to a pathogenic variant,['satb2-associated syndrome due to a point mutation'] +"""GARD:0018014""",nlrc4-related familial cold autoinflammatory syndrome,"['fcas4', 'nlrc4-related familial cold urticaria']" +"""GARD:0018015""",qrich1-related intellectual disability-chondrodysplasia syndrome,[] +"""GARD:0018016""",spondylometaphyseal dysplasia-corneal dystrophy syndrome,['smd-corneal dystrophy syndrome'] +"""GARD:0018017""",oculocutaneous albinism type 8,['oca8'] +"""GARD:0018018""",mthfs-related developmental delay-microcephaly-short stature-epilepsy syndrome,[] +"""GARD:0018019""",facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome,['fheig syndrome'] +"""GARD:0018020""",cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,['cimdag syndrome'] +"""GARD:0018021""",coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome,['commad syndrome'] +"""GARD:0018022""",kiaa1109-related early lethal congenital brain malformations-arthrogryposis syndrome,['alkuraya-kucinskas syndrome'] +"""GARD:0018023""",clcn6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome,[] +"""GARD:0018024""",oculogastrointestinal-neurodevelopmental syndrome,['ogin syndrome'] +"""GARD:0018025""",spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-leber congenital amaurosis syndrome,['shilca syndrome'] +"""GARD:0018026""",aplastic anemia-intellectual disability-dwarfism syndrome,['amed syndrome'] +"""GARD:0018027""",en1-related dorsoventral syndrome,"['endove syndrome', 'endoves']" +"""GARD:0018028""",parkinsonism with polyneuropathy,[] +"""GARD:0018029""",pontocerebellar hypoplasia type 11,"['pch11', 'pontocerebellar hypoplasia due to tbc1d23']" +"""GARD:0018030""",pontocerebellar hypoplasia type 12,"['coasy-related pontocerebellar hypoplasia', 'pch12']" +"""GARD:0018031""",pontocerebellar hypoplasia type 13,['pch13'] +"""GARD:0018032""",pontocerebellar hypoplasia type 14,['pch14'] +"""GARD:0018033""",spastic paraparesis-cataracts-speech delay syndrome,['fatty acyl-coa reductase 1 superactivity'] +"""GARD:0018034""",lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome,"['fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome', 'fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome']" +"""GARD:0018035""",acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate,"['acute reversible leukoencephalopathy due to slc13a3 deficiency', 'acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency']" +"""GARD:0018036""",lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation,[] +"""GARD:0018037""",lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the atad3 gene cluster,['lethal 1p36.33 deletion syndrome'] +"""GARD:0018038""","lipodystrophy, familial partial, type 7",['partial lipodystrophy; congenital cataracts; with or without neurodegeneration syndrome'] +"""GARD:0018039""",ovarian dysgenesis 1,"['gonadal dysgenesis; xx type', 'xx gonadal dysgenesis', 'ovarian failure; hypergonadotropic', 'ovarian dysgenesis; hypergonadotropic; autosomal recessive', 'ovarian dysgenesis; hypergonadotropic; with normal karyotype']" +"""GARD:0018040""",ovarian dysgenesis 2,"['ovarian dysgenesis; hypergonadotropic; x-linked', 'ovarian failure; hypergonadotropic; due to ovarian dysgenesis']" +"""GARD:0018041""",ovarian dysgenesis 3,[] +"""GARD:0018042""",ovarian dysgenesis 6,[] +"""GARD:0018043""",ovarian dysgenesis 7,[] +"""GARD:0018044""",premature ovarian failure 16,[] +"""GARD:0018045""",craniosynostosis 1,"['craniostenosis', 'crs']" +"""GARD:0018046""","craniosynostosis 5, susceptibility to",[] +"""GARD:0018047""",craniosynostosis 3,[] +"""GARD:0018048""",craniosynostosis 6,[] +"""GARD:0018049""","cornea plana 1, autosomal dominant",[] +"""GARD:0018050""","cornea plana 2, autosomal recessive",[] +"""GARD:0018051""",parietal foramina 1,"['parietal foramina; symmetric', 'pfm', 'cranium bifidum; hereditary', 'catlin marks', 'cranium bifidum occultum', 'foramina parietalia permagna']" +"""GARD:0018052""",parietal foramina 3,[] +"""GARD:0018053""",parietal foramina 2,[] +"""GARD:0018054""",bronchiectasis with or without elevated sweat chloride 1,['cystic fibrosis-like syndrome'] +"""GARD:0018055""",bronchiectasis with or without elevated sweat chloride 2,['cystic fibrosis-like syndrome'] +"""GARD:0018056""",bronchiectasis with or without elevated sweat chloride 3,['cystic fibrosis-like syndrome'] +"""GARD:0018057""","epilepsy, childhood absence, susceptibility to, 1",[] +"""GARD:0018058""","febrile seizures, familial, 8",[] +"""GARD:0018059""","epilepsy, idiopathic generalized, susceptibility to, 13",[] +"""GARD:0018060""","epilepsy, childhood absence, susceptibility to, 6",[] +"""GARD:0018061""","epilepsy, childhood absence, susceptibility to, 5",[] +"""GARD:0018062""","ectodermal dysplasia 4, hair/nail type","[""ectodermal dysplasia; 'pure' hair/nail type""]" +"""GARD:0018063""","ectodermal dysplasia 5, hair/nail type",[] +"""GARD:0018064""","ectodermal dysplasia 6, hair/nail type",[] +"""GARD:0018065""","ectodermal dysplasia 7, hair/nail type",[] +"""GARD:0018066""","ectodermal dysplasia 9, hair/nail type",[] +"""GARD:0018067""","mitochondrial complex i deficiency, nuclear type 32",[] +"""GARD:0018068""",radioulnar synostosis with amegakaryocytic thrombocytopenia 1,"['thrombocytopenia; congenital; with radioulnar synostosis', 'rusat']" +"""GARD:0018069""",radioulnar synostosis with amegakaryocytic thrombocytopenia 2,[] +"""GARD:0018070""","cardiomyopathy, familial restrictive, 1",['rcm'] +"""GARD:0018071""","cardiomyopathy, familial restrictive, 2",[] +"""GARD:0018072""","cardiomyopathy, familial restrictive, 3",[] +"""GARD:0018073""","hyperpigmentation with or without hypopigmentation, familial progressive","['hyperpigmentation; familial progressive; 2; formerly', 'melanosis universalis hereditaria']" +"""GARD:0018074""","hyperpigmentation, familial progressive, 1",[] +"""GARD:0018075""",hyperalphalipoproteinemia 1,"['cholesterol ester transfer protein deficiency', 'cetp deficiency']" +"""GARD:0018076""",apolipoprotein c-iii deficiency,['hyperalphalipoproteinemia 2'] +"""GARD:0018077""",megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1,"['meg-pmg-megacc syndrome', 'megalencephaly; polymicrogyria; mega corpus callosum syndrome', 'megalencephaly; mega corpus callosum; and complete lack of motor development']" +"""GARD:0018078""",megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2,[] +"""GARD:0018079""",megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3,[] +"""GARD:0018080""",nephronophthisis 11,[] +"""GARD:0018081""",nephronophthisis 19,[] +"""GARD:0018082""","epilepsy, familial adult myoclonic, 1","['benign adult familial myoclonic epilepsy 1', 'cortical myoclonic tremor with epilepsy; familial; 1']" +"""GARD:0018083""","epilepsy, familial adult myoclonic, 2","['cortical myoclonus and epilepsy; autosomal dominant', 'benign adult familial myoclonic epilepsy 2', 'cortical myoclonic tremor with epilepsy; familial; 2']" +"""GARD:0018084""","epilepsy, familial adult myoclonic, 3",['cortical myoclonic tremor with epilepsy; familial; 3'] +"""GARD:0018085""","epilepsy, familial adult myoclonic, 4",['cortical myoclonic tremor with epilepsy; familial; 4'] +"""GARD:0018086""","epilepsy, familial adult myoclonic, 5",['cortical myoclonic tremor with epilepsy; familial; 5'] +"""GARD:0018087""","leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism","['leukoencephalopathy; hypomyelinating; with ataxia and delayed dentition', 'ataxia; delayed dentition; and hypomyelination', '4h leukodystrophy 1', 'leukodystrophy; hypomyelinating; with hypodontia and hypogonadotropic hypogonadism', '4h syndrome']" +"""GARD:0018088""","leukodystrophy, hypomyelinating, 11",['4h leukodystrophy 3'] +"""GARD:0018089""",hemolytic anemia due to glutathione reductase deficiency,[] +"""GARD:0018090""","hydrocephalus, congenital communicating, 1",[] +"""GARD:0018091""","neuropathy, hereditary motor and sensory, type via, with optic atrophy","['neuropathy; hereditary motor and sensory; type vi', 'charcot-marie-tooth disease; type 6a', 'charcot-marie-tooth disease; type 6', 'hmsn via', 'peripheral neuropathy and optic atrophy']" +"""GARD:0018092""","neuropathy, hereditary motor and sensory, type vib, with optic atrophy","['charcot-marie-tooth disease; type 6b', 'hmsn vib']" +"""GARD:0018093""",hypotrichosis 2,"['hypotrichosis; spanish type', 'hypotrichosis simplex of the scalp 1', 'htss']" +"""GARD:0018094""",hypotrichosis 3,['hypotrichosis simplex of the scalp 2'] +"""GARD:0018095""","deafness, x-linked 3",[] +"""GARD:0018096""","deafness, x-linked 4","['deafness; x-linked 6; progressive', 'deafness; nonsyndromic sensorineural progressive 6']" +"""GARD:0018097""","deafness, x-linked 6",[] +"""GARD:0018098""","deafness, x-linked 1",['deafness; x-linked 2; sensorineural congenital'] +"""GARD:0018099""","deafness, autosomal dominant 2a",[] +"""GARD:0018100""","deafness, autosomal dominant 4a",['deafness; autosomal dominant 4'] +"""GARD:0018101""","deafness, autosomal dominant 6","['deafness; autosomal dominant 14', 'deafness; autosomal dominant 38']" +"""GARD:0018102""","deafness, autosomal dominant 5",[] +"""GARD:0018103""","deafness, autosomal dominant 10",[] +"""GARD:0018104""","deafness, autosomal dominant 11",[] +"""GARD:0018105""","deafness, autosomal dominant 9",[] +"""GARD:0018106""","deafness, autosomal dominant 7",[] +"""GARD:0018107""","deafness, autosomal dominant 12",['deafness; autosomal dominant 8'] +"""GARD:0018108""","deafness, autosomal dominant 13",[] +"""GARD:0018109""","deafness, autosomal dominant 15",[] +"""GARD:0018110""","deafness, autosomal dominant 16",[] +"""GARD:0018111""","deafness, autosomal dominant 20",['dfna26'] +"""GARD:0018112""","deafness, autosomal dominant 25",[] +"""GARD:0018113""","deafness, autosomal dominant 18",[] +"""GARD:0018114""","deafness, autosomal dominant 30",[] +"""GARD:0018115""","deafness, autosomal dominant 36",[] +"""GARD:0018116""","deafness, autosomal dominant 21",[] +"""GARD:0018117""","deafness, autosomal recessive",[] +"""GARD:0018118""","deafness, autosomal dominant 44",[] +"""GARD:0018119""","deafness, autosomal dominant 52",[] +"""GARD:0018120""","deafness, autosomal dominant 48",[] +"""GARD:0018121""","deafness, autosomal dominant 41",[] +"""GARD:0018122""","deafness, autosomal dominant 49",[] +"""GARD:0018123""","deafness, autosomal dominant 43",[] +"""GARD:0018124""","deafness, autosomal dominant 28",[] +"""GARD:0018125""","deafness, autosomal dominant 31",[] +"""GARD:0018126""","deafness, autosomal dominant 47",[] +"""GARD:0018127""","auditory neuropathy, autosomal dominant 1",['auditory neuropathy; nonsyndromic dominant'] +"""GARD:0018128""","deafness, autosomal dominant 27",[] +"""GARD:0018129""","deafness, autosomal dominant 59",[] +"""GARD:0018130""","deafness, autosomal dominant 3b",[] +"""GARD:0018131""","deafness, autosomal dominant 2b",[] +"""GARD:0018132""","deafness, autosomal dominant 50",[] +"""GARD:0018133""","deafness, autosomal dominant 51",[] +"""GARD:0018134""","deafness, autosomal dominant 64",[] +"""GARD:0018135""","deafness, autosomal dominant 33",[] +"""GARD:0018136""","deafness, autosomal dominant 4b",[] +"""GARD:0018137""","deafness, autosomal dominant 56",[] +"""GARD:0018138""","deafness, autosomal dominant 54",[] +"""GARD:0018139""","deafness, autosomal dominant 58",[] +"""GARD:0018140""","deafness, autosomal dominant 65",[] +"""GARD:0018141""","deafness, autosomal dominant 67",[] +"""GARD:0018142""","deafness, autosomal dominant 40",[] +"""GARD:0018143""","deafness, autosomal dominant 69",['deafness; congenital; unilateral or asymmetric'] +"""GARD:0018144""","deafness, autosomal dominant 68",[] +"""GARD:0018145""","deafness, autosomal dominant 70",[] +"""GARD:0018146""","deafness, autosomal dominant 66",[] +"""GARD:0018147""","deafness, autosomal dominant 71",[] +"""GARD:0018148""","deafness, autosomal dominant 72",[] +"""GARD:0018149""","deafness, autosomal dominant 73",[] +"""GARD:0018150""","deafness, autosomal recessive 110",[] +"""GARD:0018151""","deafness, autosomal dominant 74",[] +"""GARD:0018152""","deafness, autosomal recessive 113",[] +"""GARD:0018153""","deafness, autosomal dominant 75",[] +"""GARD:0018154""","deafness, autosomal dominant 76",[] +"""GARD:0018155""","deafness, autosomal dominant 77",[] +"""GARD:0018156""","deafness, autosomal dominant 78",[] +"""GARD:0018157""","deafness, autosomal dominant 79",[] +"""GARD:0018158""","deafness, autosomal dominant 80",[] +"""GARD:0018159""","deafness, sensorineural, autosomal-mitochondrial type",[] +"""GARD:0018160""","deafness, nonsyndromic sensorineural, mitochondrial",[] +"""GARD:0018161""","deafness, aminoglycoside-induced","['streptomycin ototoxicity', 'deafness; streptomycin-induced']" +"""GARD:0018162""","ptosis, hereditary congenital 1",[] +"""GARD:0018163""","ptosis, hereditary congenital 2",[] +"""GARD:0018164""","fibrosis of extraocular muscles, congenital, 5",[] +"""GARD:0018165""","alacrima, congenital, autosomal dominant",['alacrimia congenita; autosomal dominant'] +"""GARD:0018166""","alacrima, congenital, autosomal recessive",[] +"""GARD:0018167""","persistent hyperplastic primary vitreous, autosomal recessive","['retinal nonattachment; nonsyndromic congenital', 'retinal nonattachment and falciform detachment', 'persistent fetal vasculature']" +"""GARD:0018168""","persistent hyperplastic primary vitreous, autosomal dominant",[] +"""GARD:0018169""","vitamin d-dependent rickets, type 2a","['vitamin d-dependent rickets; type 2a; with or without alopecia', 'rickets-alopecia syndrome', 'pddr iia', 'generalized resistance to 1;25-dihydroxyvitamin d', 'pseudovitamin d-deficiency; type iia', 'vitamin d-resistant rickets with end-organ unresponsiveness to 1;25-dihydroxycholecalciferol', 'rickets; hereditary vitamin d-resistant']" +"""GARD:0018170""","vitamin d-dependent rickets, type 2b, with normal vitamin d receptor",[] +"""GARD:0018171""","vitamin d-dependent rickets, type 3",[] +"""GARD:0018172""","polydactyly, postaxial, type a5",[] +"""GARD:0018173""","polydactyly, postaxial, type a2",[] +"""GARD:0018174""","polydactyly, postaxial, type a3",[] +"""GARD:0018175""","polydactyly, postaxial, type a4",[] +"""GARD:0018176""","polydactyly, postaxial, type a6",[] +"""GARD:0018177""","polydactyly, postaxial, type a9",[] +"""GARD:0018178""","polydactyly, postaxial, type a10",[] +"""GARD:0018179""",nephronophthisis 3,['nph3'] +"""GARD:0018180""",nephronophthisis-like nephropathy 1,[] +"""GARD:0018181""",nephronophthisis 20,[] +"""GARD:0018182""",nephronophthisis 2,['nph2'] +"""GARD:0018183""",nephronophthisis 16,[] +"""GARD:0018184""","hypospadias 3, autosomal",[] +"""GARD:0018185""","hypospadias 1, x-linked",[] +"""GARD:0018186""","hypospadias 2, x-linked",[] +"""GARD:0018187""","hypospadias 4, x-linked, susceptibility to",[] +"""GARD:0018188""",thyroid dyshormonogenesis 1,"['hypothyroidism; congenital; due to dyshormonogenesis; 1', 'iodine accumulation; transport; or trapping defect', 'thyroid hormonogenesis; genetic defect in; 1']" +"""GARD:0018189""",thyroid dyshormonogenesis 2a,"['thyroid hormonogenesis; genetic defect in; 2a', 'hypothyroidism; congenital; due to dyshormonogenesis; 2a', 'iodide peroxidase deficiency', 'thyroid peroxidase deficiency']" +"""GARD:0018190""",thyroid dyshormonogenesis 3,"['hypothyroidism; congenital; due to dyshormonogenesis; 3', 'thyroid hormonogenesis; genetic defect in; 3']" +"""GARD:0018191""",thyroid dyshormonogenesis 4,"['iodotyrosine dehalogenase deficiency', 'deiodinase deficiency', 'thyroid hormonogenesis; genetic defect in; 4', 'hypothyroidism; congenital; due to dyshormonogenesis; 4']" +"""GARD:0018192""",thyroid dyshormonogenesis 5,"['thyroid hormonogenesis; genetic defect in; 5', 'hypothyroidism; congenital; due to dyshormonogenesis; 5']" +"""GARD:0018193""",thyroid dyshormonogenesis 6,"['thyroid hormonogenesis; genetic defect in; 6', 'hypothyroidism; congenital; due to dyshormonogenesis; 6']" +"""GARD:0018194""",immunodeficiency 75,[] +"""GARD:0018195""","vitamin k-dependent clotting factors, combined deficiency of, 1","['multiple coagulation factor deficiency iii', 'fmfd iii', 'factors ii; vii; ix; and x; combined deficiency of', 'familial multiple coagulation factor deficiency iii', 'glutamic acid; deficient gamma-carboxylation of', 'vkcfd', 'vitamin k-dependent coagulation defect']" +"""GARD:0018196""","vitamin k-dependent clotting factors, combined deficiency of, 2",[] +"""GARD:0018197""","myopia, high, with cataract and vitreoretinal degeneration",[] +"""GARD:0018198""","myopia 23, autosomal recessive",[] +"""GARD:0018199""",optic atrophy 9,[] +"""GARD:0018200""","optic atrophy 10 with or without ataxia, mental retardation, and seizures",[] +"""GARD:0018201""",optic atrophy 11,[] +"""GARD:0018202""","epilepsy, familial focal, with variable foci 1","['epilepsy; familial focal; with variable foci', 'epilepsy; partial; with variable foci']" +"""GARD:0018203""","epilepsy, familial focal, with variable foci 2",[] +"""GARD:0018204""","epilepsy, familial focal, with variable foci 3",[] +"""GARD:0018205""","interstitial pneumonitis, desquamative, familial","['pneumonitis; desquamative interstitial; familial', 'interstitial lung disease; desquamative', 'ild; desquamative', 'pneumonia; desquamative interstitial; familial']" +"""GARD:0018206""","emery-dreifuss muscular dystrophy 4, autosomal dominant",['emery-dreifuss muscular dystrophy 4 with variable features'] +"""GARD:0018207""","emery-dreifuss muscular dystrophy 5, autosomal dominant",[] +"""GARD:0018208""","emery-dreifuss muscular dystrophy 7, autosomal dominant",[] +"""GARD:0018209""","emery-dreifuss muscular dystrophy 3, autosomal recessive",[] +"""GARD:0018210""","myasthenic syndrome, congenital, 5","['engel congenital myasthenic syndrome', 'cms ic; formerly', 'endplate acetylcholinesterase deficiency', 'myasthenic syndrome; congenital; engel type', 'congenital myasthenic syndrome type ic; formerly']" +"""GARD:0018211""","guillain-barre syndrome, familial",['polyneuropathy; inflammatory demyelinating; acute'] +"""GARD:0018212""","corneal dystrophy, posterior polymorphous, 1","['maumenee corneal dystrophy', 'corneal dystrophy; hereditary polymorphous posterior', 'corneal endothelial dystrophy 1; autosomal dominant; formerly']" +"""GARD:0018213""","corneal dystrophy, posterior polymorphous, 2",[] +"""GARD:0018214""","corneal dystrophy, posterior polymorphous, 3",[] +"""GARD:0018215""","corneal dystrophy, posterior polymorphous, 4",[] +"""GARD:0018216""","corneal dystrophy, fuchs endothelial, 1",['corneal dystrophy; fuchs endothelial; early-onset'] +"""GARD:0018217""","corneal dystrophy, fuchs endothelial, 2",[] +"""GARD:0018218""","corneal dystrophy, fuchs endothelial, 3","['corneal dystrophy; fuchs endothelial; late-onset', 'fcd2 locus']" +"""GARD:0018219""","corneal dystrophy, fuchs endothelial, 4",['corneal dystrophy; fuchs endothelial; late-onset'] +"""GARD:0018220""","corneal dystrophy, fuchs endothelial, 5",[] +"""GARD:0018221""","corneal dystrophy, fuchs endothelial, 6",['corneal dystrophy; fuchs endothelial; late-onset'] +"""GARD:0018222""","corneal dystrophy, fuchs endothelial, 7",[] +"""GARD:0018223""","corneal dystrophy, fuchs endothelial, 8",[] +"""GARD:0018224""","glaucoma 3, primary congenital, a","['buphthalmos', 'glaucoma; congenital']" +"""GARD:0018225""","glaucoma 3, primary congenital, c",[] +"""GARD:0018226""","glaucoma 3, primary congenital, d",[] +"""GARD:0018227""","glaucoma 3, primary congenital, e",[] +"""GARD:0018228""","glaucoma 1, open angle, j",[] +"""GARD:0018229""","glaucoma 1, open angle, k",[] +"""GARD:0018230""","glaucoma 1, open angle, m",[] +"""GARD:0018231""","glaucoma 1, open angle, n",[] +"""GARD:0018232""",cataract 25,[] +"""GARD:0018233""",cataract 29,[] +"""GARD:0018234""",cataract 41,['cataract 41; congenital nuclear type'] +"""GARD:0018235""",cataract 27,[] +"""GARD:0018236""","cataract 33, multiple types",[] +"""GARD:0018237""","macular dystrophy, patterned, 1","['butterfly dystrophy of retinal pigment epithelium', 'patterned dystrophy of retinal pigment epithelium', 'macular dystrophy; butterfly-shaped pigmentary']" +"""GARD:0018238""","macular dystrophy, patterned, 2",['macular dystrophy; butterfly-shaped pigmentary; 2'] +"""GARD:0018239""",reticular dystrophy of retinal pigment epithelium,[] +"""GARD:0018240""","retinal dystrophy, reticular pigmentary, of posterior pole",[] +"""GARD:0018241""",retinal dystrophy with or without extraocular anomalies,[] +"""GARD:0018242""","subaortic stenosis, membranous",[] +"""GARD:0018243""",cleft soft palate,[] +"""GARD:0018244""","tooth agenesis, selective, 1","['hypodontia/oligodontia 1', 'tooth agenesis; familial', 'second premolars and third molars; absence of']" +"""GARD:0018245""","tooth agenesis, selective, 4","['lateral incisors; absence of', 'tooth agenesis; selective; 4; with or without ectodermal dysplasia', 'lateral incisors; pegged or missing', 'succedaneous teeth; agenesis of']" +"""GARD:0018246""","tooth agenesis, selective, x-linked, 1",['hypodontia/oligodontia; x-linked; 1'] +"""GARD:0018247""","tooth agenesis, selective, 3",['hypodontia/oligodontia 3'] +"""GARD:0018248""","tooth agenesis, selective, 5",[] +"""GARD:0018249""","tooth agenesis, selective, 7",[] +"""GARD:0018250""","tooth agenesis, selective, 8",[] +"""GARD:0018251""","myoglobinuria, acute recurrent, autosomal recessive","['rhabdomyolysis; acute recurrent', 'myoglobinuria; familial paroxysmal paralytic']" +"""GARD:0018252""","leukoencephalopathy, progressive, with ovarian failure",[] +"""GARD:0018253""",hyperparathyroidism 1,['hyperparathyroidism; familial isolated primary'] +"""GARD:0018254""","hyperparathyroidism, primary, caused by water clear cell hyperplasia",[] +"""GARD:0018255""",hyperparathyroidism 3,[] +"""GARD:0018256""",hyperparathyroidism 4,[] +"""GARD:0018257""","hypoparathyroidism, familial isolated, 2",[] +"""GARD:0018258""","amelogenesis imperfecta, type iiib",[] +"""GARD:0018259""","angioedema induced by ace inhibitors, susceptibility to",[] +"""GARD:0018260""","diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies","['sodium diarrhea; congenital', 'diarrhea 3; secretory sodium; congenital; syndromic']" +"""GARD:0018261""","diarrhea 8, secretory sodium, congenital",['diarrhea; congenital sodium'] +"""GARD:0018262""","neuronopathy, distal hereditary motor, type iia","['charcot-marie-tooth disease; spinal; iia', 'neuropathy; distal hereditary motor; type iia', 'spinal muscular atrophy; distal; adult; autosomal dominant; iia', 'hmn iia']" +"""GARD:0018263""","neuronopathy, distal hereditary motor, type iib","['neuropathy; distal hereditary motor; type iib', 'hmn iib']" +"""GARD:0018264""","neuronopathy, distal hereditary motor, type iic","['neuropathy; distal hereditary motor; type iic', 'hmn iic']" +"""GARD:0018265""","neuronopathy, distal hereditary motor, type iid","['neuropathy; distal hereditary motor; type iid', 'spinal muscular atrophy; distal; autosomal dominant; calf-predominant', 'hmn iid']" +"""GARD:0018266""","neuronopathy, distal hereditary motor, type va","['hmn 5a', 'neuronopathy; distal hereditary motor; type v', 'neuropathy; distal hereditary motor; type va', 'spinal muscular atrophy; distal; with upper limb predominance', 'dhmn va', 'spinal muscular atrophy; distal; type va', 'spinal muscular atrophy; distal; type v']" +"""GARD:0018267""","neuronopathy, distal hereditary motor, type vb","['neuropathy; distal hereditary motor; type vb', 'spinal muscular atrophy; distal; type vb', 'hmn vb', 'dhmn vb']" +"""GARD:0018268""","neuronopathy, distal hereditary motor, type vc","['spinal muscular atrophy; distal; type 5c', 'dhmn5c']" +"""GARD:0018269""","neuronopathy, distal hereditary motor, type viia","['spinal muscular atrophy; distal; with vocal cord paralysis', 'hmn viia', 'neuropathy; distal hereditary motor; type viia', 'dhmnvp', 'harper-young myopathy', 'dhmn7a']" +"""GARD:0018270""","neuronopathy, distal hereditary motor, type viib","['neuropathy; distal hereditary motor; with vocal cord paralysis; type viib', 'lower motor neuron disease; dynactin type', 'dhmn7b', 'hmn viib', 'neuropathy; distal hereditary motor; type viib']" +"""GARD:0018271""","macrothrombocytopenia, isolated, 1, autosomal dominant",[] +"""GARD:0018272""","bleeding disorder, platelet-type, 15",['macrothrombocytopenia; autosomal dominant; actn1-related'] +"""GARD:0018273""","bleeding disorder, platelet-type, 24",['glanzmann thrombasthenia-like with macrothrombocytopenia 2'] +"""GARD:0018274""",atresia of external auditory canal and conductive deafness,[] +"""GARD:0018275""","aural atresia, congenital",['aural atresia; congenital; with hyposmia'] +"""GARD:0018276""","polyposis syndrome, hereditary mixed, 2",[] +"""GARD:0018277""",crisponi/cold-induced sweating syndrome 2,[] +"""GARD:0018278""",perching syndrome,['crisponi/cold-induced sweating syndrome 3; formerly'] +"""GARD:0018279""","epilepsy, familial temporal lobe, 3",[] +"""GARD:0018280""","epilepsy, familial temporal lobe, 5",[] +"""GARD:0018281""","epilepsy, familial temporal lobe, 6",[] +"""GARD:0018282""","rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked",['rolandic epilepsy; mental retardation; and speech dyspraxia; x-linked'] +"""GARD:0018283""","febrile seizures, familial, 11",['convulsions; familial febrile; 11'] +"""GARD:0018284""",sick sinus syndrome 2,"['sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation', 'sinus node disease; familial; autosomal dominant', 'atrial fibrillation with bradyarrhythmia', 'sinus bradycardia syndrome; familial; autosomal dominant']" +"""GARD:0018285""","sick sinus syndrome 3, susceptibility to",[] +"""GARD:0018286""","epilepsy, hot water, 1",[] +"""GARD:0018287""","epilepsy, hot water, 2",[] +"""GARD:0018288""",thrombocytopenia 3,['thrombocytopenia; autosomal recessive; 3'] +"""GARD:0018289""",thrombocytopenia 4,['thrombocytopenia; autosomal dominant; 4'] +"""GARD:0018290""",complement component 7 deficiency,['c7 deficiency'] +"""GARD:0018291""",complement component 6 deficiency,['c6 deficiency'] +"""GARD:0018292""",complement component 9 deficiency,['c9 deficiency'] +"""GARD:0018293""",immunodeficiency 104,"['scid; autosomal recessive; t cell-negative; b cell-positive; nk cell-positive', 'severe combined immunodeficiency; autosomal recessive; t cell-negative; b cell-positive; nk cell-positive']" +"""GARD:0018294""",immunodeficiency 25,['immunodeficiency due to defect in cd3-zeta'] +"""GARD:0018295""",immunodeficiency 18,['cd3-epsilon deficiency'] +"""GARD:0018296""",immunodeficiency 19,"['scid; t cell-negative; b cell-positive; nk cell-positive', 'severe combined immunodeficiency; t cell-negative; b cell-positive; nk cell-positive', 'cd3-delta deficiency']" +"""GARD:0018297""",rajab interstitial lung disease with brain calcifications 1,"['neurodevelopmental disorder with brain; liver; and lung abnormalities; formerly', 'developmental delay; small stature; microcephaly; and brain calcifications; formerly', 'rajab interstitial lung disease with brain calcifications', 'rajab syndrome']" +"""GARD:0018298""",rajab interstitial lung disease with brain calcifications 2,[] +"""GARD:0018299""",immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis,[] +"""GARD:0018300""",immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia,[] +"""GARD:0018301""","hypercarotenemia and vitamin a deficiency, autosomal dominant",[] +"""GARD:0018302""","hypercarotenemia and vitamin a deficiency, autosomal recessive",[] +"""GARD:0018303""",orofacial cleft 11,['cleft lip with or without cleft palate; nonsyndromic; 11'] +"""GARD:0018304""","orofacial cleft 6, susceptibility to",['cleft lip with or without cleft palate; nonsyndromic; 6'] +"""GARD:0018305""",orofacial cleft 5,['cleft lip with or without cleft palate; nonsyndromic; 5'] +"""GARD:0018306""",orofacial cleft 10,['cleft lip with or without cleft palate; nonsyndromic; 10'] +"""GARD:0018307""",orofacial cleft 15,[] +"""GARD:0018308""",orofacial cleft 8,['cleft lip with or without cleft palate; nonsyndromic; 8'] +"""GARD:0018309""","cerebral palsy, spastic quadriplegic, 2",[] +"""GARD:0018310""","cerebral palsy, spastic quadriplegic, 3",[] +"""GARD:0018311""","growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive","['laron syndrome due to postreceptor defect', 'growth hormone insensitivity due to postreceptor defect']" +"""GARD:0018312""","growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant",[] +"""GARD:0018313""",cerebral cavernous malformations 2,[] +"""GARD:0018314""",cerebral cavernous malformations 3,[] +"""GARD:0018315""","striatonigral degeneration, infantile, mitochondrial","['bilateral striatal necrosis; infantile; mitochondrial', 'infantile bilateral striatal necrosis; mitochondrial']" +"""GARD:0018316""",combined osteogenesis imperfecta and ehlers-danlos syndrome 1,['oieds syndrome 1'] +"""GARD:0018317""",combined osteogenesis imperfecta and ehlers-danlos syndrome 2,['oieds syndrome 2'] +"""GARD:0018318""",rhabdoid tumor predisposition syndrome 1,['brain tumor; posterior fossa; of infancy; familial'] +"""GARD:0018319""",rhabdoid tumor predisposition syndrome 2,[] +"""GARD:0018320""","aneurysm, intracranial berry, 1",[] +"""GARD:0018321""","aneurysm, intracranial berry, 5",[] +"""GARD:0018322""","aneurysm, intracranial berry, 3",[] +"""GARD:0018323""","aneurysm, intracranial berry, 4",[] +"""GARD:0018324""","aneurysm, intracranial berry, 6",[] +"""GARD:0018325""","aneurysm, intracranial berry, 7",[] +"""GARD:0018326""","aneurysm, intracranial berry, 8",[] +"""GARD:0018327""","aneurysm, intracranial berry, 9",[] +"""GARD:0018328""","aneurysm, intracranial berry, 10",[] +"""GARD:0018329""","aneurysm, intracranial berry, 11",[] +"""GARD:0018330""","aneurysm, intracranial berry, 12",[] +"""GARD:0018331""",hermansky-pudlak syndrome 1,"['delta storage pool disease', 'albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells']" +"""GARD:0018332""",hermansky-pudlak syndrome 4,[] +"""GARD:0018333""",hermansky-pudlak syndrome 3,[] +"""GARD:0018334""",hermansky-pudlak syndrome 5,[] +"""GARD:0018335""",hermansky-pudlak syndrome 6,[] +"""GARD:0018336""",hermansky-pudlak syndrome 7,[] +"""GARD:0018337""",hermansky-pudlak syndrome 8,[] +"""GARD:0018338""",hermansky-pudlak syndrome 9,[] +"""GARD:0018339""",hermansky-pudlak syndrome 11,[] +"""GARD:0018340""","hypercholanemia, familial 1",['bile acid; elevated serum'] +"""GARD:0018341""","hypercholanemia, familial, 2",['ntcp deficiency'] +"""GARD:0018342""","inflammatory bowel disease 25, autosomal recessive",['inflammatory bowel disease; early-onset; autosomal recessive'] +"""GARD:0018343""","inflammatory bowel disease 28, autosomal recessive",['inflammatory bowel disease; early-onset; autosomal recessive'] +"""GARD:0018344""","supranuclear palsy, progressive, 2",[] +"""GARD:0018345""","supranuclear palsy, progressive, 3",[] +"""GARD:0018346""","nephrolithiasis/osteoporosis, hypophosphatemic, 1",[] +"""GARD:0018347""","nephrolithiasis/osteoporosis, hypophosphatemic, 2",[] +"""GARD:0018348""","pontocerebellar hypoplasia, type 2e",[] +"""GARD:0018349""",hyperphosphatasia with mental retardation syndrome 1,"['mabry syndrome', 'glycosylphosphatidylinositol biosynthesis defect 2']" +"""GARD:0018350""",hyperphosphatasia with mental retardation syndrome 3,"['mental retardation; autosomal recessive 17', 'glycosylphosphatidylinositol biosynthesis defect 8', 'mental retardation; autosomal recessive 21']" +"""GARD:0018351""",hyperphosphatasia with mental retardation syndrome 2,['glycosylphosphatidylinositol biosynthesis defect 6'] +"""GARD:0018352""",hyperphosphatasia with mental retardation syndrome 4,['glycosylphosphatidylinositol biosynthesis defect 10'] +"""GARD:0018353""",glycosylphosphatidylinositol biosynthesis defect 11,['hyperphosphatasia with mental retardation syndrome 5'] +"""GARD:0018354""",hyperphosphatasia with mental retardation syndrome 6,['glycosylphosphatidylinositol biosynthesis defect 12'] +"""GARD:0018355""","erythrocytosis, familial, 3",[] +"""GARD:0018356""","erythrocytosis, familial, 4",[] +"""GARD:0018357""","fibromatosis, gingival, 5","['fibromatosis; gingival; hereditary; 5', 'ggf5']" +"""GARD:0018358""","stickler syndrome, type iv",[] +"""GARD:0018359""","stickler syndrome, type v",[] +"""GARD:0018360""",testicular anomalies with or without congenital heart disease,[] +"""GARD:0018361""","46,xy sex reversal 9",['46;xy sex reversal; zfpm2-related'] +"""GARD:0018362""",mismatch repair cancer syndrome 2,[] +"""GARD:0018363""",mismatch repair cancer syndrome 3,[] +"""GARD:0018364""",mismatch repair cancer syndrome 4,[] +"""GARD:0018365""","hydatidiform mole, recurrent, 1",['hydatidiform mole; complete'] +"""GARD:0018366""","hydatidiform mole, recurrent, 2",['hydatidiform mole; complete'] +"""GARD:0018367""","hydatidiform mole, recurrent, 3",[] +"""GARD:0018368""","hydatidiform mole, recurrent, 4",[] +"""GARD:0018369""",mitochondrial dna depletion syndrome 2 (myopathic type),['mitochondrial dna depletion myopathy; tk2-related'] +"""GARD:0018370""",mitochondrial dna depletion syndrome 19,[] +"""GARD:0018371""","mitochondrial complex i deficiency, nuclear type 13",[] +"""GARD:0018372""","mitochondrial complex i deficiency, nuclear type 17",[] +"""GARD:0018373""","mitochondrial complex i deficiency, nuclear type 22",[] +"""GARD:0018374""","mitochondrial complex i deficiency, nuclear type 23",[] +"""GARD:0018375""","mitochondrial complex i deficiency, nuclear type 27",[] +"""GARD:0018376""","mitochondrial complex i deficiency, nuclear type 28",[] +"""GARD:0018377""","deafness, autosomal recessive 112",[] +"""GARD:0018378""","coenzyme q10 deficiency, primary, 1","['coenzyme q deficiency 1', 'ubiquinone deficiency 1', 'coq deficiency 1', 'coq10 deficiency; primary; 1']" +"""GARD:0018379""","coenzyme q10 deficiency, primary, 3",[] +"""GARD:0018380""","anemia, sideroblastic, 4",[] +"""GARD:0018381""","anemia, sideroblastic, 2, pyridoxine-refractory",[] +"""GARD:0018382""",kleefstra syndrome 2,[] +"""GARD:0018383""","microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1",[] +"""GARD:0018384""","encephalopathy, acute, infection-induced, susceptibility to, 4",[] +"""GARD:0018385""","meningioma, familial, susceptibility to",[] +"""GARD:0018386""",glycogen storage disease ixa1,"['gsd viii; formerly', 'glycogen storage disease viii; formerly', 'liver glycogenosis; x-linked; type i']" +"""GARD:0018387""",glycogen storage disease ixc,['gsd ixc'] +"""GARD:0018388""","maple syrup urine disease, mild variant",[] +"""GARD:0018389""",preeclampsia/eclampsia 1,"['preg1', 'pee', 'toxemia of pregnancy']" +"""GARD:0018390""",preeclampsia/eclampsia 2,[] +"""GARD:0018391""",preeclampsia/eclampsia 3,[] +"""GARD:0018392""",preeclampsia/eclampsia 4,[] +"""GARD:0018393""",preeclampsia/eclampsia 5,[] +"""GARD:0018394""","pulmonary hypertension, primary, 2",[] +"""GARD:0018395""",frontotemporal dementia and/or amyotrophic lateral sclerosis 8,[] +"""GARD:0018396""",frontotemporal dementia and/or amyotrophic lateral sclerosis 1,"['amyotrophic lateral sclerosis and/or frontotemporal dementia', 'frontotemporal dementia and/or motor neuron disease', 'frontotemporal dementia and/or amyotrophic lateral sclerosis']" +"""GARD:0018397""",frontotemporal dementia and/or amyotrophic lateral sclerosis 2,[] +"""GARD:0018398""",frontotemporal dementia and/or amyotrophic lateral sclerosis 4,[] +"""GARD:0018399""",spermatogenic failure 3,[] +"""GARD:0018400""",spermatogenic failure 7,['male infertility; nonsyndromic; autosomal recessive'] +"""GARD:0018401""",spermatogenic failure 10,['spermatogenic failure with defective sperm annulus'] +"""GARD:0018402""",spermatogenic failure 18,[] +"""GARD:0018403""",spermatogenic failure 19,[] +"""GARD:0018404""",spermatogenic failure 20,[] +"""GARD:0018405""",spermatogenic failure 27,[] +"""GARD:0018406""",spermatogenic failure 33,[] +"""GARD:0018407""",spermatogenic failure 34,[] +"""GARD:0018408""",spermatogenic failure 37,[] +"""GARD:0018409""",spermatogenic failure 38,[] +"""GARD:0018410""",spermatogenic failure 39,[] +"""GARD:0018411""",spermatogenic failure 40,[] +"""GARD:0018412""",spermatogenic failure 41,[] +"""GARD:0018413""",spermatogenic failure 42,[] +"""GARD:0018414""",spermatogenic failure 43,[] +"""GARD:0018415""","vitamin d hydroxylation-deficient rickets, type 1b","['vitamin d-dependent rickets; type 1b', '25-hydroxyvitamin d3 deficiency; selective', 'pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency']" +"""GARD:0018416""","hypophosphatemic rickets, autosomal recessive, 1","['hypophosphatemia; autosomal recessive', 'arhr']" +"""GARD:0018417""","hypophosphatemic rickets, autosomal recessive, 2",[] +"""GARD:0018418""",vesicoureteral reflux 1,[] +"""GARD:0018419""",vesicoureteral reflux 2,[] +"""GARD:0018420""",vesicoureteral reflux 3,[] +"""GARD:0018421""",vesicoureteral reflux 4,[] +"""GARD:0018422""",vesicoureteral reflux 5,[] +"""GARD:0018423""",vesicoureteral reflux 6,[] +"""GARD:0018424""",vesicoureteral reflux 7,[] +"""GARD:0018425""",vesicoureteral reflux 8,[] +"""GARD:0018426""",peeling skin syndrome 4,"['ichthyosis; exfoliative; autosomal recessive', 'ichthyosis bullosa of siemens-like']" +"""GARD:0018427""",peeling skin syndrome 5,[] +"""GARD:0018428""",3mc syndrome 2,"['ptosis of eyelids with diastasis recti and hip dysplasia', 'oculo-skeletal-abdominal syndrome', 'osa syndrome', 'carnevale syndrome; formerly']" +"""GARD:0018429""","inflammatory skin and bowel disease, neonatal, 1",[] +"""GARD:0018430""","inflammatory skin and bowel disease, neonatal, 2",[] +"""GARD:0018431""",renal-hepatic-pancreatic dysplasia 1,['rhpd'] +"""GARD:0018432""",renal-hepatic-pancreatic dysplasia 2,[] +"""GARD:0018433""",chromosome xq26.3 duplication syndrome,[] +"""GARD:0018434""","hypercalcemia, infantile, 1",['hypercalcemia; idiopathic; of infancy'] +"""GARD:0018435""","hypercalcemia, infantile, 2",[] +"""GARD:0018436""","facial paresis, hereditary congenital, 2",[] +"""GARD:0018437""","facial paresis, hereditary congenital, 3",[] +"""GARD:0018438""","microcephaly, epilepsy, and diabetes syndrome 1",['meds'] +"""GARD:0018439""","microcephaly, epilepsy, and diabetes syndrome 2",[] +"""GARD:0018440""","episodic pain syndrome, familial, 2",[] +"""GARD:0018441""",cerebroretinal microangiopathy with calcifications and cysts 1,['crmcc'] +"""GARD:0018442""",cerebroretinal microangiopathy with calcifications and cysts 2,[] +"""GARD:0018443""","spinal muscular atrophy, distal, autosomal recessive, 5",[] +"""GARD:0018444""","neuropathy, hereditary motor, with myopathic features",[] +"""GARD:0018445""","renal cell carcinoma, xp11-associated",[] +"""GARD:0018446""",proteasome-associated autoinflammatory syndrome 3,[] +"""GARD:0018447""",proteasome-associated autoinflammatory syndrome 2,[] +"""GARD:0018448""",proteasome-associated autoinflammatory syndrome 5,[] +"""GARD:0018449""",proteasome-associated autoinflammatory syndrome 4,[] +"""GARD:0018450""","progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2",['progressive external ophthalmoplegia; autosomal recessive 2'] +"""GARD:0018451""","myasthenic syndrome, congenital, 12",['myasthenic syndrome; congenital; with tubular aggregates 1'] +"""GARD:0018452""","myasthenic syndrome, congenital, 13",['myasthenic syndrome; congenital; with tubular aggregates 2'] +"""GARD:0018453""","myasthenic syndrome, congenital, 15",['myasthenic syndrome; congenital; without tubular aggregates'] +"""GARD:0018454""","myasthenic syndrome, congenital, 14",['myasthenic syndrome; congenital; with tubular aggregates 3'] +"""GARD:0018455""","muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3",['muscular dystrophy; congenital; pomgnt1-related'] +"""GARD:0018456""","muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4",['muscular dystrophy; congenital; fktn-related'] +"""GARD:0018457""","hypotonia, infantile, with psychomotor retardation and characteristic facies 1",['ihprf'] +"""GARD:0018458""","hypotonia, infantile, with psychomotor retardation and characteristic facies 2",[] +"""GARD:0018459""","microcephaly, short stature, and impaired glucose metabolism 1",['mssgm'] +"""GARD:0018460""","microcephaly, short stature, and impaired glucose metabolism 2",[] +"""GARD:0018461""","parkinson disease 19a, juvenile-onset",['park19; formerly'] +"""GARD:0018462""","parkinson disease 20, early-onset",[] +"""GARD:0018463""",silver-russell syndrome 3,['growth restriction; severe; with distinctive facies'] +"""GARD:0018464""",silver-russell syndrome 4,[] +"""GARD:0018465""",silver-russell syndrome 5,[] +"""GARD:0018466""",combined oxidative phosphorylation deficiency 19,[] +"""GARD:0018467""",short-rib thoracic dysplasia 14 with polydactyly,[] +"""GARD:0018468""",immunodeficiency 15b,[] +"""GARD:0018469""",immunodeficiency 15a,[] +"""GARD:0018470""",aortic valve disease 1,"['aortic valve; bicuspid', 'aortic stenosis; calcific', 'aortic valve disease', 'bicuspid aortic valve', 'aortic valve; calcification of']" +"""GARD:0018471""",aortic valve disease 2,"['aortic valve stenosis', 'bicuspid aortic valve']" +"""GARD:0018472""","melanoma, cutaneous malignant, susceptibility to, 1","['melanoma; malignant', 'melanoma; familial', 'melanoma; cutaneous malignant', 'b-k mole syndrome', 'dysplastic nevus syndrome; hereditary', 'familial atypical mole-malignant melanoma syndrome']" +"""GARD:0018473""",melanoma-pancreatic cancer syndrome,['familial atypical multiple mole melanoma-pancreatic carcinoma syndrome'] +"""GARD:0018474""","parkinson disease 1, autosomal dominant",['parkinson disease 1; autosomal dominant lewy body'] +"""GARD:0018475""","parkinson disease 4, autosomal dominant",['parkinson disease 4; autosomal dominant lewy body'] +"""GARD:0018476""","parkinson disease 8, autosomal dominant",[] +"""GARD:0018477""","parkinson disease 11, autosomal dominant, susceptibility to",[] +"""GARD:0018478""",parkinson disease 17,[] +"""GARD:0018479""","parkinson disease 18, autosomal dominant, susceptibility to",[] +"""GARD:0018480""",parkinson disease 21,[] +"""GARD:0018481""","microcephaly and chorioretinopathy, autosomal recessive, 1",[] +"""GARD:0018482""","microcephaly and chorioretinopathy, autosomal recessive, 3",[] +"""GARD:0018483""","short stature, microcephaly, and endocrine dysfunction",[] +"""GARD:0018484""",seckel syndrome 10,[] +"""GARD:0018485""","colorectal cancer, susceptibility to, 10",['colorectal cancer; susceptibility to; on chromosome 19q'] +"""GARD:0018486""","colorectal cancer, susceptibility to, 12",['colorectal cancer; susceptibility to; on chromosome 12q24'] +"""GARD:0018487""","palmoplantar keratoderma, nonepidermolytic, focal 1","['keratoderma; focal nonepidermolytic palmoplantar', 'ppkfne', 'focal nonepidermolytic palmoplantar keratoderma']" +"""GARD:0018488""","palmoplantar keratoderma, nonepidermolytic, focal 2",[] +"""GARD:0018489""",patent ductus arteriosus 2,[] +"""GARD:0018490""",patent ductus arteriosus 3,[] +"""GARD:0018491""","bleeding disorder, platelet-type, 20",[] +"""GARD:0018492""",thrombocytopenia 7,['thrombocytopenia; autosomal dominant; 7'] +"""GARD:0018493""",chilblain lupus 1,[] +"""GARD:0018494""",chilblain lupus 2,[] +"""GARD:0018495""",spinal muscular atrophy with congenital bone fractures 2,[] +"""GARD:0018496""",oocyte maturation defect 2,[] +"""GARD:0018497""",oocyte maturation defect 4,[] +"""GARD:0018498""",oocyte maturation defect 8,[] +"""GARD:0018499""",oocyte maturation defect 9,[] +"""GARD:0018500""",oocyte maturation defect 10,[] +"""GARD:0018501""","intellectual developmental disorder, autosomal dominant 42",['mental retardation; autosomal dominant 42'] +"""GARD:0018502""","neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy","['intellectual developmental disorder; autosomal recessive 53; formerly', 'glycosylphosphatidylinositol biosynthesis defect 13', 'mental retardation; autosomal recessive 53; formerly']" +"""GARD:0018503""","spermatogenic failure, y-linked, 1",[] +"""GARD:0018504""","spermatogenic failure, y-linked, 2","['spermatogenic failure; nonobstructive; y-linked', 'spermatogenic arrest; y-linked', 'azoospermia; nonobstructive; y-linked', 'oligozoospermia; nonobstructive; y-linked', 'oligospermia; nonobstructive; y-linked']" +"""GARD:0018505""",monosomy 7 myelodysplasia and leukemia syndrome 1,"['monosomy 7 of bone marrow', 'mlsm7', 'chromosome 7q deletion']" +"""GARD:0018506""",monosomy 7 myelodysplasia and leukemia syndrome 2,[] +"""GARD:0018507""","microcephaly, growth restriction, and increased sister chromatid exchange 2",[] +"""GARD:0018508""","vertebral, cardiac, renal, and limb defects syndrome 1","['3-hydroxyanthranilic acidemia', 'congenital nad deficiency disorder 1']" +"""GARD:0018509""","vertebral, cardiac, renal, and limb defects syndrome 2","['congenital nad deficiency disorder 2', 'kynureninase deficiency; complete']" +"""GARD:0018510""","vertebral, cardiac, renal, and limb defects syndrome 3",['congenital nad deficiency disorder 3'] +"""GARD:0018511""",shukla-vernon syndrome,[] +"""GARD:0018512""",intellectual developmental disorder with autism and speech delay,"['autism-related speech delay', 'phrase speech delay; autism-related', 'autism; susceptibility to; 5; formerly']" +"""GARD:0018513""",neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,[] +"""GARD:0018514""","intellectual developmental disorder, autosomal dominant 61",['mental retardation; autosomal dominant 61'] +"""GARD:0018515""","neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia",[] +"""GARD:0018516""","intellectual developmental disorder with abnormal behavior, microcephaly, and short stature",[] +"""GARD:0018517""",developmental delay with variable intellectual impairment and behavioral abnormalities,[] +"""GARD:0018518""",intellectual developmental disorder with severe speech and ambulation defects,[] +"""GARD:0018519""","neurodevelopmental disorder with ataxia, hypotonia, and microcephaly",[] +"""GARD:0018520""",intellectual developmental disorder with impaired language and dysmorphic facies,[] +"""GARD:0018521""",neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies,[] +"""GARD:0018522""","intellectual developmental disorder with autistic features and language delay, with or without seizures",[] +"""GARD:0018523""","neurodevelopmental, jaw, eye, and digital syndrome",[] +"""GARD:0018524""","neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities",[] +"""GARD:0018525""",tolchin-le caignec syndrome,['intellectual developmental disorder with behavioral abnormalities and variable bone defects'] +"""GARD:0018526""",li-ghorbani-weisz-hubshman syndrome,[] +"""GARD:0018527""",intellectual developmental disorder with seizures and language delay,[] +"""GARD:0018528""","neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia",[] +"""GARD:0018529""","intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies",[] +"""GARD:0018530""",neurodevelopmental disorder with speech impairment and dysmorphic facies,[] +"""GARD:0018531""",neurodevelopmental disorder with seizures and brain atrophy,[] +"""GARD:0018532""","neurodevelopmental disorder with microcephaly, seizures, and brain atrophy",[] +"""GARD:0018533""",delpire-mcneill syndrome,[] +"""GARD:0018534""","neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities",[] +"""GARD:0018535""","neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities",[] +"""GARD:0018536""",intellectual developmental disorder with speech delay and axonal peripheral neuropathy,[] +"""GARD:0018537""",kaya-barakat-masson syndrome,[] +"""GARD:0018538""",lessel-kreienkamp syndrome,[] +"""GARD:0018539""",neurodevelopmental disorder with or without early-onset generalized epilepsy,[] +"""GARD:0018540""",neurodevelopmental disorder with or without autism or seizures,[] +"""GARD:0018541""",global developmental delay with speech and behavioral abnormalities,[] +"""GARD:0018542""",neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism,[] +"""GARD:0018543""",neurodevelopmental disorder with dysmorphic facies and variable seizures,[] +"""GARD:0018544""",alzahrani-kuwahara syndrome,['neurodevelopmental disorder with dysmorphic facies and cataracts'] +"""GARD:0018545""",neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia,[] +"""GARD:0018546""",buratti-harel syndrome,[] +"""GARD:0018547""","intellectual developmental disorder, autosomal dominant 65",['mental retardation; autosomal dominant 65'] +"""GARD:0018548""","robinow syndrome, autosomal dominant 2",[] +"""GARD:0018549""","robinow syndrome, autosomal dominant 3",[] +"""GARD:0018550""","hemolytic uremic syndrome, atypical, susceptibility to, 1",['ahus; susceptibility to; 1'] +"""GARD:0018551""",complement factor h deficiency,"['cfh deficiency', 'factor h deficiency', 'c3 glomerulopathy 1']" +"""GARD:0018552""","hemolytic uremic syndrome, atypical, susceptibility to, 2",['ahus; susceptibility to; 2'] +"""GARD:0018553""","hemolytic uremic syndrome, atypical, susceptibility to, 3",['ahus; susceptibility to; 3'] +"""GARD:0018554""","hemolytic uremic syndrome, atypical, susceptibility to, 4",['ahus; susceptibility to; 4'] +"""GARD:0018555""","hemolytic uremic syndrome, atypical, susceptibility to, 5",['ahus; susceptibility to; 5'] +"""GARD:0018556""","hemolytic uremic syndrome, atypical, susceptibility to, 6",['ahus; susceptibility to; 6'] +"""GARD:0018557""","nephrotic syndrome, type 7",['nephrotic syndrome; type 7; with membranoproliferative glomerulonephritis'] +"""GARD:0018558""",trigonocephaly 1,['craniosynostosis; metopic'] +"""GARD:0018559""",trigonocephaly 2,['craniosynostosis; metopic'] +"""GARD:0018560""","endove syndrome, limb-only type",[] +"""GARD:0018561""","endove syndrome, limb-brain type",['mesomelia of lower extremities with hand; foot; and brain anomalies'] +"""GARD:0018562""","pontocerebellar hypoplasia, type 14",[] +"""GARD:0018563""","pontocerebellar hypoplasia, type 15",[] +"""GARD:0018564""",lethal congenital contracture syndrome 7,[] +"""GARD:0018565""",lethal congenital contracture syndrome 8,[] +"""GARD:0018566""","arthrogryposis multiplex congenita 1, neurogenic, with myelin defect",['arthrogryposis multiplex congenita; neurogenic; with myelin defect'] +"""GARD:0018567""","neuropathy, congenital hypomyelinating, 3",[] +"""GARD:0018568""","thrombophilia due to protein s deficiency, autosomal dominant",[] +"""GARD:0018569""","thrombophilia due to protein s deficiency, autosomal recessive",[] +"""GARD:0018570""","mitochondrial complex iv deficiency, nuclear type 2","['cytochrome c oxidase deficiency; fatal infantile; with cardioencephalomyopathy', 'cardioencephalomyopathy; fatal infantile; due to cytochrome c oxidase deficiency 1']" +"""GARD:0018571""","mitochondrial complex iv deficiency, nuclear type 6",['cardioencephalomyopathy; fatal infantile; due to cytochrome c oxidase deficiency 2'] +"""GARD:0018572""","mitochondrial complex iv deficiency, nuclear type 9",['cardioencephalomyopathy; fatal infantile; due to cytochrome c oxidase deficiency 3'] +"""GARD:0018573""","mitochondrial complex iv deficiency, nuclear type 13",['cardioencephalomyopathy; fatal infantile; due to cytochrome c oxidase deficiency 4'] +"""GARD:0018574""","thrombophilia due to protein c deficiency, autosomal dominant","['proc deficiency; autosomal dominant', 'protein c deficiency; autosomal dominant']" +"""GARD:0018575""","melanoma, cutaneous malignant, susceptibility to, 2",[] +"""GARD:0018576""","melanoma, malignant familial intraocular",[] +"""GARD:0018577""","melanoma, cutaneous malignant, susceptibility to, 4",[] +"""GARD:0018578""","melanoma, cutaneous malignant, susceptibility to, 3",[] +"""GARD:0018579""","melanoma, cutaneous malignant, susceptibility to, 5",[] +"""GARD:0018580""","melanoma, cutaneous malignant, susceptibility to, 6",[] +"""GARD:0018581""","melanoma, cutaneous malignant, susceptibility to, 9",[] +"""GARD:0018582""","melanoma, cutaneous malignant, susceptibility to, 10",[] +"""GARD:0018583""","hypercalciuria, absorptive, 2",['hypercalciuria; familial idiopathic'] +"""GARD:0018584""","hypercalciuria, absorptive, 1",[] +"""GARD:0018585""",congenital short bowel syndrome,[] +"""GARD:0018586""","omphalocele, autosomal",[] +"""GARD:0018587""","omphalocele, x-linked",[] +"""GARD:0018588""",erythrokeratodermia variabilis et progressiva 2,[] +"""GARD:0018589""",erythrokeratodermia variabilis et progressiva 3,[] +"""GARD:0018590""",erythrokeratodermia variabilis et progressiva 4,[] +"""GARD:0018591""","ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant",['ectodermal dysplasia; hypohidrotic; autosomal dominant'] +"""GARD:0018592""","ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant",['ectodermal dysplasia; hypohidrotic; autosomal dominant'] +"""GARD:0018593""","ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type",[] +"""GARD:0018594""","sarcoidosis, susceptibility to, 1",['boeck sarcoid'] +"""GARD:0018595""","sarcoidosis, susceptibility to, 2",[] +"""GARD:0018596""","sarcoidosis, susceptibility to, 3",[] +"""GARD:0018597""",polycystic kidney disease 1 with or without polycystic liver disease,"['potter type iii polycystic kidney disease; formerly', 'polycystic kidney disease; adult; type i', 'polycystic kidney disease; adult']" +"""GARD:0018598""",polycystic kidney disease 3 with or without polycystic liver disease,['polycystic kidney disease; adult; type iii'] +"""GARD:0018599""",polycystic kidney disease 2 with or without polycystic liver disease,['polycystic kidney disease; adult; type ii'] +"""GARD:0018600""",hypogonadotropic hypogonadism 10 with or without anosmia,[] +"""GARD:0018601""",hypogonadotropic hypogonadism 13 with or without anosmia,[] +"""GARD:0018602""","diabetes insipidus, neurohypophyseal","['diabetes insipidus; cranial type', 'diabetes insipidus; primary central']" +"""GARD:0018603""","diabetes insipidus, neurohypophyseal, x-linked",[] +"""GARD:0018604""",parkinson disease 12,[] +"""GARD:0018605""","parkinson disease 6, autosomal recessive early-onset",['parkinson disease 6; early-onset'] +"""GARD:0018606""","parkinson disease 7, autosomal recessive early-onset",[] +"""GARD:0018607""",parkinson disease 10,[] +"""GARD:0018608""","parkinson disease 13, autosomal dominant, susceptibility to",[] +"""GARD:0018609""","parkinson disease 5, autosomal dominant, susceptibility to",[] +"""GARD:0018610""","parkinson disease 23, autosomal recessive early-onset",[] +"""GARD:0018611""",atrial standstill 1,"['atrial cardiomyopathy with heart block', 'cardiomyopathy; familial; with conduction disturbance']" +"""GARD:0018612""",atrial standstill 2,"['atrial dilation and standstill', 'cardiomyopathy; atrial dilated; with atrial standstill']" +"""GARD:0018613""","xanthomatosis, susceptibility to",[] +"""GARD:0018614""","hypercholesterolemia, familial, 4","['fhcb1; formerly', 'hypercholesterolemia; autosomal recessive; 2; formerly', 'hypercholesterolemia; autosomal recessive; 1; formerly', 'fhcb2; formerly', 'hypercholesterolemia; autosomal recessive']" +"""GARD:0018615""",familial dilated cardiomyopathy with conduction defect due to lmna mutation,[] +"""GARD:0018616""","dystonia 11, myoclonic","['myoclonus; hereditary essential', 'myoclonic dystonia', 'dystonia; alcohol-responsive']" +"""GARD:0018617""",developmental and epileptic encephalopathy 2,"['infantile spasm syndrome; x-linked 2', 'epileptic encephalopathy; early infantile; 2']" +"""GARD:0018619""",amyotrophic lateral sclerosis 21,"['multisystem proteinopathy 5', 'vocal cord and pharyngeal dysfunction with distal myopathy; formerly', 'myopathy; distal; 2; formerly']" +"""GARD:0018620""","pigmented nodular adrenocortical disease, primary, 1","['cushing syndrome; adrenal; due to ppnad1', 'adrenocortical nodular dysplasia; primary', 'pigmented micronodular adrenocortical disease; primary; 1']" +"""GARD:0018621""","cholestasis, progressive familial intrahepatic, 4",[] +"""GARD:0018622""","congenital contractures of the limbs and face, hypotonia, and developmental delay",[] +"""GARD:0018623""","intellectual developmental disorder, autosomal dominant 1",['mental retardation; autosomal dominant 1'] +"""GARD:0018624""","leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism","['cerebellar hypoplasia with endosteal sclerosis', '4h leukodystrophy 2']" +"""GARD:0018625""",nanophthalmos 1,[] +"""GARD:0018626""",nanophthalmos 2,"['nanophthalmia 2', 'nanophthalmos; autosomal recessive']" +"""GARD:0018627""",nanophthalmos 3,[] +"""GARD:0018628""","microphthalmia, isolated 6",['microphthalmia; posterior nonsyndromic'] +"""GARD:0018629""",nanophthalmos 4,['nanophthalmia 4'] +"""GARD:0018630""","factor v and factor viii, combined deficiency of, 1","['fmfd i', 'familial multiple coagulation factor deficiency i', 'multiple coagulation factor deficiency i']" +"""GARD:0018631""","factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor",[] +"""GARD:0018632""","factor v and factor viii, combined deficiency of, 2",[] +"""GARD:0018633""",short qt syndrome 1,[] +"""GARD:0018634""",short qt syndrome 2,[] +"""GARD:0018635""",short qt syndrome 3,[] +"""GARD:0018636""","vitamin d hydroxylation-deficient rickets, type 1a","['1-alpha; 25-hydroxyvitamin d3 deficiency; selective', 'pseudovitamin d-deficiency rickets; type ia', '25-hydroxycholecalciferol-1-hydroxylase deficiency', '1-alpha-hydroxylase deficiency', 'vitamin d dependency; type 1', 'vitamin d-dependent rickets; type 1a', 'pddr ia']" +"""GARD:0018637""","amyloidosis, primary localized cutaneous, 1","['amyloidosis; primary cutaneous; 1', 'amyloidosis; familial cutaneous lichen', 'pca', 'lichen amyloidosis; familial', 'amyloidosis ix']" +"""GARD:0018638""","amyloidosis, primary localized cutaneous, 2",[] +"""GARD:0018639""",progressive symmetric erythrokeratodermia,"['darier-gottron disease', 'erythrokeratodermia progressiva symmetrica', 'progressive symmetric erythrokeratodermia; gottron type']" +"""GARD:0018640""",x-linked non-syndromic intellectual disability,[] +"""GARD:0018641""",generalized epilepsy with febrile seizures-plus,"['gefs+', 'genetic epilepsy with febrile seizures-plus']" +"""GARD:0018642""",hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,['hpfh-beta-thalassemia syndrome'] +"""GARD:0018643""",autosomal recessive non-syndromic intellectual disability,"['ar-nsid', 'ns-arid']" +"""GARD:0018644""",autosomal recessive non-syndromic sensorineural deafness type dfnb,"['autosomal recessive isolated neurosensory deafness type dfnb', 'autosomal recessive isolated neurosensory hearing loss type dfnb', 'autosomal recessive isolated sensorineural deafness type dfnb', 'autosomal recessive isolated sensorineural hearing loss type dfnb', 'autosomal recessive non-syndromic neurosensory deafness type dfnb', 'autosomal recessive non-syndromic neurosensory hearing loss type dfnb', 'autosomal recessive non-syndromic sensorineural hearing loss type dfnb']" +"""GARD:0018645""",juvenile nephronophthisis,[] +"""GARD:0018646""",overgrowth-macrocephaly-facial dysmorphism syndrome,[] +"""GARD:0018647""",hereditary persistence of alpha-fetoprotein,[] +"""GARD:0018648""",hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,['hpfh-sickle cell disease syndrome'] +"""GARD:0018649""",isolated atp synthase deficiency,['isolated mitochondrial respiratory chain complex v deficiency'] +"""GARD:0018650""",autosomal recessive nail dysplasia,[] +"""GARD:0018651""",familial benign flecked retina,[] +"""GARD:0018652""",isolated sedoheptulokinase deficiency,['isolated shpk deficiency'] +"""GARD:0018653""",dnajb2-related charcot-marie-tooth disease type 2,['dnajb2-related cmt2'] +"""GARD:0018654""",lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,[] +"""GARD:0018655""",microcephaly-short stature-limb abnormalities syndrome,['missla'] +"""GARD:0018656""",fetal hemoglobin quantitative trait locus 1,"['hereditary persistence of fetal hemoglobin; hb gene cluster-related', 'hemoglobin f; hereditary persistence of']" +"""GARD:0018657""",fetal hemoglobin quantitative trait locus 2,[] +"""GARD:0018658""",fetal hemoglobin quantitative trait locus 3,[] +"""GARD:0018659""","generalized epilepsy with febrile seizures plus, type 1",['gefs+; type 1'] +"""GARD:0018660""","mitochondrial complex v (atp synthase) deficiency, nuclear type 1",['mitochondrial complex v (atp synthase) deficiency; atpaf2 type'] +"""GARD:0018661""","generalized epilepsy with febrile seizures plus, type 2",['gefs+; type 2'] +"""GARD:0018662""","generalized epilepsy with febrile seizures plus, type 4",[] +"""GARD:0018663""","generalized epilepsy with febrile seizures plus, type 6",[] +"""GARD:0018664""","generalized epilepsy with febrile seizures plus, type 8",[] +"""GARD:0018665""","generalized epilepsy with febrile seizures plus, type 7",[] +"""GARD:0018666""","mitochondrial complex v (atp synthase) deficiency, nuclear type 3",['mitochondrial complex v (atp synthase) deficiency; atp5e type'] +"""GARD:0018667""","mitochondrial complex v (atp synthase) deficiency, nuclear type 4",['mitochondrial complex v (atp synthase) deficiency; atp5a1 type'] +"""GARD:0018668""","generalized epilepsy with febrile seizures plus, type 9",['gefs+; type 9'] +"""GARD:0018669""",erythrokeratodermia variabilis et progressiva 5,[] +"""GARD:0018670""","mitochondrial complex v (atp synthase) deficiency, nuclear type 5",['mitochondrial complex v (atp synthase) deficiency; atp5f1d type'] +"""GARD:0018671""","generalized epilepsy with febrile seizures plus, type 10",['gefs+; type 10'] +"""GARD:0018672""",erythrokeratodermia variabilis et progressiva 6,[] +"""GARD:0018673""","mitochondrial complex v (atp synthase) deficiency, nuclear type 6",[] +"""GARD:0018674""",erythrokeratodermia variabilis et progressiva 7,[] +"""GARD:0018675""",amoebiasis due to entamoeba histolytica,[] +"""GARD:0018676""",amyloidosis,[] +"""GARD:0018677""",juvenile idiopathic arthritis,"['juvenile chronic arthritis', 'juvenile rheumatoid arthritis']" +"""GARD:0018678""",atresia of urethra,['urethral atresia'] +"""GARD:0018679""",non-rhizomelic chondrodysplasia punctata,[] +"""GARD:0018680""",scimitar syndrome,"['congenital pulmonary venolobar syndrome', 'epibronchial right pulmonary vein syndrome', 'halasz syndrome', 'hypogenetic lung syndrome']" +"""GARD:0018681""",isolated corpus callosum agenesis,[] +"""GARD:0018682""",neonatal diabetes mellitus,['ndm'] +"""GARD:0018683""",trisomy 9p,"['duplication 9p', 'duplication of the short arm of chromosome 9', 'trisomy of the short arm of chromosome 9']" +"""GARD:0018684""",digestive duplication,[] +"""GARD:0018685""",spondylometaphyseal dysplasia,[] +"""GARD:0018686""",duchenne and becker muscular dystrophy,['severe dystrophinopathy; duchenne and becker type'] +"""GARD:0018687""",congenital herpes simplex virus infection,"['antenatal herpes simplex virus infection', 'mother-to-child transmission of herpes simplex virus infection']" +"""GARD:0018688""",reflex epilepsy,[] +"""GARD:0018689""",hemorrhagic fever-renal syndrome,"['hantavirosis', 'hantavirus fever']" +"""GARD:0018690""",arbovirus fever,[] +"""GARD:0018691""",glycogen storage disease due to phosphorylase kinase deficiency,"['gsd due to phosphorylase kinase deficiency', 'gsd type 9', 'gsd type ix', 'glycogen storage disease due to phk deficiency', 'glycogen storage disease type 9', 'glycogen storage disease type ix', 'glycogenosis due to phosphorylase kinase deficiency', 'glycogenosis type 9', 'glycogenosis type ix', 'gycogenosis due to phk deficiency']" +"""GARD:0018692""",histoplasmosis,['darling disease'] +"""GARD:0018693""",familial keratoacanthoma,"['hereditary keratoacanthoma', 'multiple keratoacanthoma']" +"""GARD:0018694""",keratosis pilaris atrophicans,[] +"""GARD:0018695""",systemic lupus erythematosus,"['disseminated lupus erythematosus', 'sle']" +"""GARD:0018696""",toxic epidermal necrolysis,['lyell syndrome'] +"""GARD:0018697""",primary cutaneous cd30+ t-cell lymphoproliferative disease,['primary cutaneous ki-1+ t-cell lymphoproliferative disease'] +"""GARD:0018698""",primary cutaneous lymphoma,[] +"""GARD:0018699""",distal myopathy,['distal muscular dystrophy'] +"""GARD:0018700""",congenital primary megaureter,['congenital primary megalo-ureter'] +"""GARD:0018701""",non-histaminic angioedema,"['angioneurotic edema', 'bradykinine-induced angioedema', 'non histamine-induced angioedema']" +"""GARD:0018702""",plague,['yersiniosis'] +"""GARD:0018703""",pili bifurcati,[] +"""GARD:0018704""",rare form of salmonellosis,[] +"""GARD:0018705""",scleroderma,[] +"""GARD:0018706""",congenital cervical spinal stenosis,"['congenital narrowing of cervical spinal canal', 'congenital stenosis of the cervical spine']" +"""GARD:0018707""",primitive portal vein thrombosis,['non-cirrhotic portal vein thrombosis'] +"""GARD:0018708""",congenital toxoplasmosis,"['mother-to-child transmission of toxoplasmosis', 'toxoplasma embryofetopathy', 'toxoplasma embryopathy']" +"""GARD:0018709""",primary adult heart tumor,"['adult cardiac tumor', 'adult heart tumor']" +"""GARD:0018710""",primary pediatric heart tumor,"['cardiac tumor of child', 'heart tumor of child']" +"""GARD:0018711""",extragonadal teratoma,[] +"""GARD:0018712""",absence of the pulmonary artery,"['aplasia of pulmonary artery', 'uapa', 'unilateral pulmonary artery absence', 'unilateral pulmonary artery agenesis']" +"""GARD:0018713""",alopecia antibody deficiency,['ipp-gelfand syndrome'] +"""GARD:0018714""",sideroblastic anemia,[] +"""GARD:0018715""",isolated lissencephaly type 1 without known genetic defects,[] +"""GARD:0018716""",radial deficiency-tibial hypoplasia syndrome,[] +"""GARD:0018717""",abnormal origin of the pulmonary artery,[] +"""GARD:0018718""",autosomal recessive cerebellar ataxia,['arca'] +"""GARD:0018719""",mitochondrial dna-related cardiomyopathy and hearing loss,"['maternally-inherited cardiomyopathy and deafness', 'mtdna-related cardiomyopathy and deafness', 'mtdna-related cardiomyopathy and hearing loss', 'trna-lys-related cardiomyopathy-hearing loss syndrome']" +"""GARD:0018720""",isolated cerebellar agenesis,"['near total absence of cerebellum', 'subtotal absence of cerebellum']" +"""GARD:0018721""",paroxysmal dyskinesia,"['paroxysmal choreoathetosis', 'paroxysmal dystonic choreoathetosis']" +"""GARD:0018722""",autosomal dominant coarctation of aorta,[] +"""GARD:0018723""",atypical coarctation of aorta,"['coarctation of the abdominal aorta', 'mid-aortic dysplastic syndrome', 'mid-aortic syndrome', 'midaortic syndrome', 'middle aortic syndrome']" +"""GARD:0018724""",criss-cross heart,"['criss-cross atrioventricular relationships', 'superoinferior ventricles', 'twisted atrioventricular connections']" +"""GARD:0018725""",univentricular heart,['double inlet atrioventricular connection'] +"""GARD:0018726""",short rib-polydactyly syndrome,[] +"""GARD:0018727""",thin ribs-tubular bones-dysmorphism syndrome,['sharma-kapoor-ramji syndrome'] +"""GARD:0018728""",benign focal seizures of adolescence,['adolescent benign focal crisis'] +"""GARD:0018729""",non-distal monosomy 10q,"['non-distal deletion 10q', 'non-telomeric monosomy 10q']" +"""GARD:0018730""",deletion 5q35,"['del (5)(q35)', 'del (5)(qter)', 'distal 5q deletion', 'monosomy 5q35', 'telomeric deletion 5q']" +"""GARD:0018731""",distal monosomy 7q36,"['distal deletion 7q36', 'monosomy 7qter', 'telomeric deletion 7q36']" +"""GARD:0018732""",distal monosomy 9p,"['distal deletion 9p', 'monosomy 9pter', 'telomeric deletion 9p']" +"""GARD:0018733""",xp22.3 microdeletion syndrome,['del(x)(p23)'] +"""GARD:0018734""",sporadic fetal brain disruption sequence,[] +"""GARD:0018735""",familial idiopathic dilatation of the right atrium,[] +"""GARD:0018736""",mosaic trisomy 1,"['mosaic trisomy chromosome 1', 'trisomy 1 mosaicism']" +"""GARD:0018737""",non-distal trisomy 10q,"['non-distal duplication 10q', 'non-telomeric trisomy 10q']" +"""GARD:0018738""",non-distal trisomy 13q,"['non-distal duplication 13q', 'non-telomeric trisomy 13q']" +"""GARD:0018739""",distal trisomy 14q,"['distal duplication 14q', 'telomeric duplication 14q', 'trisomy 14qter']" +"""GARD:0018740""",distal trisomy 15q,"['distal duplication 15q', 'telomeric duplication 15q', 'trisomy 15qter']" +"""GARD:0018741""",mosaic trisomy 16,"['mosaic trisomy chromosome 16', 'trisomy 16 mosaicism']" +"""GARD:0018742""",distal trisomy 18q,"['distal duplication 18q', 'telomeric duplication 18q', 'trisomy 18qter']" +"""GARD:0018743""",distal trisomy 19q,"['distal duplication 19q', 'telomeric duplication 19q', 'trisomy 19qter']" +"""GARD:0018744""",mosaic trisomy 20,"['mosaic trisomy chromosome 20', 'trisomy 20 mosaicism']" +"""GARD:0018745""",distal trisomy 6p,"['distal duplication 6p', 'telomeric duplication 6p', 'trisomy 6pter']" +"""GARD:0018746""",fibular dimelia-diplopodia syndrome,['leg duplication-mirror foot syndrome'] +"""GARD:0018747""","45,x/46,xy mixed gonadal dysgenesis","['45;x/46;xy mgd', '45;x0/46;xy mgd', '45;x0/46;xy mixed gonadal dysgenesis']" +"""GARD:0018748""",multicystic dysplastic kidney,"['mcdk', 'multicystic renal dysplasia']" +"""GARD:0018749""","focal, segmental or multifocal dystonia",[] +"""GARD:0018750""",fetal trimethadione syndrome,[] +"""GARD:0018751""",toluene embryopathy,[] +"""GARD:0018752""",rasmussen subacute encephalitis,['rasmussen syndrome'] +"""GARD:0018753""",frontal encephalocele,['anterior encephalocele'] +"""GARD:0018754""",cleft lip with or without cleft palate,['tessier cleft number 1;2'] +"""GARD:0018755""",cleft lip/palate-deafness-sacral lipoma syndrome,"['cleft lip/palate-hearing loss-sacral lipoma syndrome', 'lowry-yong syndrome']" +"""GARD:0018756""",median cleft lip/mandibule,['median cleft lower facial stage'] +"""GARD:0018757""",filariasis,[] +"""GARD:0018758""",congenital systemic arteriovenous fistula,[] +"""GARD:0018759""",progressive non-infectious anterior vertebral fusion,['copenhagen syndrome'] +"""GARD:0018760""",dysmorphism-pectus carinatum-joint laxity syndrome,['guízar vázquez-sánchez-manzano syndrome'] +"""GARD:0018761""",hemimelia,['longitudinal meromelia'] +"""GARD:0018762""","craniosynostosis, herrmann-opitz type",[] +"""GARD:0018763""","hypotrichosis-intellectual disability, lopes type",['lopes-marques de faria syndrome'] +"""GARD:0018764""",dysmorphism-short stature-deafness-disorder of sex development syndrome,"['dysmorphism-short stature-hearing loss-disorder of sex development syndrome', 'ieshima-koeda-inagaki syndrome']" +"""GARD:0018765""",isotretinoin syndrome,"['isotretinoin embryopathy', 'retinoic acid embryopathy', 'retinoids embryopathy']" +"""GARD:0018766""",epidermolysis bullosa simplex with anodontia/hypodontia,"['ebs with anodontia/hypodontia', 'kallin syndrome']" +"""GARD:0018767""",kallmann syndrome-heart disease syndrome,[] +"""GARD:0018768""",isolated punctate palmoplantar keratoderma,"['isolated punctate ppk', 'isolated punctate palmoplantar hyperkeratosis']" +"""GARD:0018769""",congenital primary lymphedema without systemic or visceral involvement,[] +"""GARD:0018770""",primary pulmonary lymphoma,[] +"""GARD:0018771""",mitochondrial oxidative phosphorylation disorder due to nuclear dna anomalies,"['mitochondrial oxidative phosphorylation disorder due to ndna anomalies', 'oxphos disease due to ndna anomalies', 'oxphos disease due to nuclear dna anomalies']" +"""GARD:0018772""",congenital pulmonary airway malformation,"['ccam', 'cpam', 'congenital cystic adenomatoid malformation of the lung', 'congenital cystic adenomatous malformation of the lung', 'congenital cystic disease of the lung']" +"""GARD:0018773""",lower limb malformation-hypospadias syndrome,['fried-goldberg-mundel syndrome'] +"""GARD:0018774""",microcephaly-seizures-intellectual disability-heart disease syndrome,[] +"""GARD:0018775""",myalgia-eosinophilia syndrome associated with tryptophan,[] +"""GARD:0018776""",osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome,"['osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome', 'osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome', 'osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome']" +"""GARD:0018777""",adult familial nephronophthisis-spastic quadriparesia syndrome,[] +"""GARD:0018778""",osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome,['heide syndrome'] +"""GARD:0018779""",congenital pericardium anomaly,[] +"""GARD:0018780""",pericardial and diaphragmatic defect,[] +"""GARD:0018781""",hereditary acrokeratotic poikiloderma,['weary syndrome'] +"""GARD:0018782""","46,xx disorder of sex development-anorectal anomalies syndrome",[] +"""GARD:0018783""","46,xx disorder of sex development",['46;xx dsd'] +"""GARD:0018784""",mirror polydactyly-vertebral segmentation-limbs defects syndrome,[] +"""GARD:0018785""",congenital systemic veins anomaly,[] +"""GARD:0018786""",congenital aortic valve stenosis,[] +"""GARD:0018787""",multiple sclerosis-ichthyosis-factor viii deficiency syndrome,[] +"""GARD:0018788""",hearing loss-familial salivary gland insensitivity to aldosterone syndrome,['tungland-bellman syndrome'] +"""GARD:0018789""",central nervous system calcification-deafness-tubular acidosis-anemia syndrome,"['central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome', 'yoshimura-takeshita syndrome']" +"""GARD:0018790""",disorder of plasmalogens biosynthesis,[] +"""GARD:0018791""",telecanthus-hypertelorism-strabismus-pes cavus syndrome,[] +"""GARD:0018792""",tetrasomy 5p,['isochromosome 5p'] +"""GARD:0018793""",toxocariasis,[] +"""GARD:0018794""",distal trisomy 17q,"['distal duplication 17q', 'telomeric duplication 17q', 'trisomy 17qter']" +"""GARD:0018795""",american trypanosomiasis,['chagas disease'] +"""GARD:0018796""",neural tube defect,[] +"""GARD:0018797""",germ cell tumor,[] +"""GARD:0018798""",aorto-ventricular tunnel,[] +"""GARD:0018799""",protein s acquired deficiency,[] +"""GARD:0018800""",oral erosive lichen,[] +"""GARD:0018801""",hypoalphalipoproteinemia,[] +"""GARD:0018802""",hypobetalipoproteinemia,[] +"""GARD:0018803""",colchicine poisoning,[] +"""GARD:0018804""",methanol poisoning,[] +"""GARD:0018805""",ethylene glycol poisoning,[] +"""GARD:0018806""",paraquat poisoning,[] +"""GARD:0018807""",digitalis poisoning,[] +"""GARD:0018808""",bullous lichen planus,[] +"""GARD:0018809""",meningococcal meningitis,[] +"""GARD:0018810""",corneal dystrophy,[] +"""GARD:0018811""",severe disseminated cytomegalovirus infection in immunocompetent patients,['severe disseminated cmv infection in immunocompetent patients'] +"""GARD:0018812""",fulminant viral hepatitis,[] +"""GARD:0018813""",epidermal nevus syndrome,['epidermal hamartoma syndrome'] +"""GARD:0018814""",mitochondrial disorder due to a defect in mitochondrial protein synthesis,"['coxpd', 'combined oxphos defect', 'combined oxphos deficiency', 'combined oxidative phosphorylation defect']" +"""GARD:0018815""",neurometabolic disorder due to serine deficiency,['serine deficiency'] +"""GARD:0018816""",malignant sex cord stromal tumor of ovary,"['malignant ovarian scst', 'malignant ovarian sex cord-stromal tumor']" +"""GARD:0018817""",acute opioid poisoning,[] +"""GARD:0018818""",polymicrogyria,[] +"""GARD:0018819""",staphylococcal scarlet fever,[] +"""GARD:0018820""",bullous impetigo,[] +"""GARD:0018821""",staphylococcal necrotizing pneumonia,[] +"""GARD:0018822""",gastric linitis plastica,"['borrmann gastric cancer type 4', 'linitis plastica of the stomach']" +"""GARD:0018823""",familial cervical artery dissection,"['familial cad', 'hereditary cad', 'hereditary cervical artery dissection']" +"""GARD:0018824""",autoimmune hypoparathyroidism,[] +"""GARD:0018825""",interstitial cystitis,"['bladder pain syndrome', 'ic/bps', 'ic/pbs', 'interstitial cystitis/bladder pain syndrome', 'interstitial cystitis/painful bladder syndrome', 'painful bladder syndrome']" +"""GARD:0018826""",acquired kinky hair syndrome,[] +"""GARD:0018827""",acitretin/etretinate embryopathy,"['fetal acitretin/etretinate syndrome', 'retinoid embryopathy']" +"""GARD:0018828""",serotonin syndrome,"['serotonergic syndrome', 'serotonin storm', 'serotonin toxicity', 'serotonin toxidrome']" +"""GARD:0018829""",acute tricyclic antidepressant poisoning,[] +"""GARD:0018830""",acute poisoning by drugs with membrane-stabilizing effect,[] +"""GARD:0018831""",idiopathic neonatal atrial flutter,[] +"""GARD:0018832""",incessant infant ventricular tachycardia,[] +"""GARD:0018833""",superficial pemphigus,[] +"""GARD:0018834""",linear iga dermatosis,[] +"""GARD:0018835""",postinfectious vasculitis,[] +"""GARD:0018836""",embryonal carcinoma of the central nervous system,['embryonal carcinoma of the cns'] +"""GARD:0018837""",focal myositis,"['focal nodular myositis', 'inflammatory pseudotumor of skeletal muscle']" +"""GARD:0018838""",acquired purpura fulminans,[] +"""GARD:0018839""",lichen amyloidosis,"['amyloid lichen', 'lichen amyloidosus']" +"""GARD:0018840""",microlissencephaly-micromelia syndrome,['basel-vanagaite-sirota syndrome'] +"""GARD:0018841""",zellweger-like syndrome without peroxisomal anomalies,['ahn-lerman-sagie syndrome'] +"""GARD:0018842""",duane anomaly-myopathy-scoliosis syndrome,['verloes-deprez syndrome'] +"""GARD:0018843""",anterior cutaneous nerve entrapment syndrome,"['acnes', 'intercostal nerve syndrome', 'rectus abdominis syndrome']" +"""GARD:0018844""",vasculitis,['systemic vasculitis'] +"""GARD:0018845""",orbital leiomyoma,[] +"""GARD:0018846""",posterior cortical atrophy,"['benson syndrome', 'biparietal alzheimer disease', 'pca']" +"""GARD:0018847""",hepatocellular adenoma,[] +"""GARD:0018848""",sarcocystosis,['sarcosporidiosis'] +"""GARD:0018849""",pneumococcal meningitis,[] +"""GARD:0018850""",carcinoma of gallbladder and extrahepatic biliary tract,['carcinoma of gallbladder and ebt'] +"""GARD:0018851""",human prion disease,"['tse', 'transmissible spongiform encephalopathy']" +"""GARD:0018852""",cirrhotic cardiomyopathy,[] +"""GARD:0018853""",mazabraud syndrome,['myxoma with fibrous dysplasia'] +"""GARD:0018854""",osteoblastoma,[] +"""GARD:0018855""",rhombencephalosynapsis,[] +"""GARD:0018856""",argyria,['silver staining'] +"""GARD:0018857""",rare epithelial tumor of stomach,['rare gastric epithelial tumor'] +"""GARD:0018858""",paraneoplastic pemphigus,[] +"""GARD:0018859""","acrofacial dysostosis, kennedy-teebi type",['kennedy-teebi syndrome'] +"""GARD:0018860""",benign idiopathic neonatal seizures,"['bins', 'benign nonfamilial neonatal seizures']" +"""GARD:0018861""",oroya fever,"['bartonellosis due to bartonella bacilliformis infection', 'carrion disease']" +"""GARD:0018862""",trench fever,['bartonellosis due to bartonella quintana infection'] +"""GARD:0018863""",granulomatous mastitis,['idiopathic granulomatous mastitis'] +"""GARD:0018864""",pulmonary blastoma,['pneumoblastoma'] +"""GARD:0018865""",hepatoportal sclerosis,['obliterative portal venopathy'] +"""GARD:0018866""",igg4-related thyroid disease,"['riedel disease', 'riedel thyroiditis']" +"""GARD:0018867""",vaginal atresia,[] +"""GARD:0018868""",short fifth metacarpals-insulin resistance syndrome,[] +"""GARD:0018869""",sensorineural hearing loss-early graying-essential tremor syndrome,['sensorineural deafness-early graying-essential tremor syndrome'] +"""GARD:0018870""",mast cell sarcoma,[] +"""GARD:0018871""",extracutaneous mastocytoma,[] +"""GARD:0018872""",segmental odontomaxillary dysplasia,[] +"""GARD:0018873""",rare hemorrhagic disorder due to a constitutional coagulation factors defect,"['rare bleeding disorder due to a constitutional coagulation factors defect', 'rare coagulopathy due to a constitutional coagulation factors defect']" +"""GARD:0018874""",rare chromosomal anomaly,[] +"""GARD:0018875""",rare genetic tumor,[] +"""GARD:0018876""",multiple congenital anomalies/dysmorphic syndrome,[] +"""GARD:0018877""",rare genetic skin disease,['rare genodermatosis'] +"""GARD:0018878""",tumor of hematopoietic and lymphoid tissues,[] +"""GARD:0018879""",rare sleep disorder,[] +"""GARD:0018880""",rare deafness,['rare hearing loss'] +"""GARD:0018881""",rare vascular disease,[] +"""GARD:0018882""",rare dystonia,['rare dystonic disorder'] +"""GARD:0018883""",hemoglobinopathy,[] +"""GARD:0018884""",lysosomal disease,[] +"""GARD:0018885""",peroxisomal disease,[] +"""GARD:0018886""",congenital limb malformation,[] +"""GARD:0018887""",mitochondrial disease,[] +"""GARD:0018888""",neuromuscular disease,[] +"""GARD:0018889""",rare constitutional aplastic anemia,[] +"""GARD:0018890""",neurometabolic disease,[] +"""GARD:0018891""",rare parkinsonian disorder,['rare hypokinetic movement disorder'] +"""GARD:0018892""",rare bone tumor,[] +"""GARD:0018893""",rare parathyroid disease and phosphocalcic metabolism anomaly,[] +"""GARD:0018894""",vascular anomaly or angioma,[] +"""GARD:0018895""",dysostosis with brachydactyly,[] +"""GARD:0018896""",congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,"['alloimmune neonatal renal disease', 'fmaig', 'fetomaternal alloimmunization with antenatal glomerulopathies', 'neonatal glomerulopathy due to neprilysin alloimmunization', 'neonatal membranous glomerulopathy with maternal nep deficiency', 'neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency']" +"""GARD:0018897""",bilateral acute depigmentation of the iris,['badi'] +"""GARD:0018898""",circumscribed palmoplantar hypokeratosis,[] +"""GARD:0018899""",warty dyskeratoma,['follicular dyskeratoma'] +"""GARD:0018900""",radiation proctitis,[] +"""GARD:0018901""",squamous cell carcinoma of the esophagus,"['escc', 'esophageal epidermoid carcinoma', 'esophageal squamous cell carcinoma']" +"""GARD:0018902""",adult acute respiratory distress syndrome,['adult ards'] +"""GARD:0018903""",congenital epstein-barr virus infection,"['antenatal ebv infection', 'antenatal epstein-barr virus infection', 'congenital ebv infection', 'mother-to-child transmission of epstein-barr virus infection']" +"""GARD:0018904""",rare pulmonary hypertension,[] +"""GARD:0018905""",rare hemorrhagic disorder due to a constitutional platelet anomaly,"['rare bleeding disorder due to a constitutional platelet anomaly', 'rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia', 'rare coagulopathy due to a constitutional platelet anomaly', 'rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia', 'rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia']" +"""GARD:0018906""",autoimmune thrombocytopenia,[] +"""GARD:0018907""",rare soft tissue tumor,['rare mesenchymal tumor'] +"""GARD:0018908""",retinal capillary malformation,[] +"""GARD:0018909""",dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,['dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome'] +"""GARD:0018910""",silent sinus syndrome,['imploding antrum syndrome'] +"""GARD:0018911""",rare central nervous system and retinal vascular disease,[] +"""GARD:0018912""",cancer-associated retinopathy,"['car syndrome', 'paraneoplastic retinopathy']" +"""GARD:0018913""",benign paroxysmal torticollis of infancy,[] +"""GARD:0018914""",psychogenic movement disorders,['psychogenic dystonia'] +"""GARD:0018915""",rare genetic neurological disorder,[] +"""GARD:0018916""",inherited retinal disorder,['retinal dystrophy'] +"""GARD:0018917""",muscular channelopathy,[] +"""GARD:0018918""",intractable diarrhea of infancy,['idi'] +"""GARD:0018919""",global developmental delay-osteopenia-ectodermal defect syndrome,[] +"""GARD:0018920""",kidney tubulopathy-dilated cardiomyopathy syndrome,[] +"""GARD:0018921""",ossification anomalies-psychomotor developmental delay syndrome,[] +"""GARD:0018922""",spinal muscular atrophy-dandy-walker malformation-cataracts syndrome,[] +"""GARD:0018923""",visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome,[] +"""GARD:0018924""",myiasis,[] +"""GARD:0018925""",oligocone trichromacy,['oligocone syndrome'] +"""GARD:0018926""",brain malformation-congenital heart disease-postaxial polydactyly syndrome,['goossens-devriendt syndrome'] +"""GARD:0018927""",angioosteohypotrophic syndrome,"['phlebectatic osteohypoplastic angiodysplasia', 'servelle-martorell syndrome']" +"""GARD:0018928""",tropical endomyocardial fibrosis,"['davies disease', 'temf']" +"""GARD:0018929""",loeffler endocarditis,['eosinophilic endocarditis'] +"""GARD:0018930""",primary progressive freezing gait,['ppfg'] +"""GARD:0018931""",6q terminal deletion syndrome,[] +"""GARD:0018932""",primary lymphedema,[] +"""GARD:0018933""",auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome,[] +"""GARD:0018934""",monosomy 9q22.3,['microdeletion 9q22.3'] +"""GARD:0018935""",genetic obesity,[] +"""GARD:0018936""",rare genetic odontologic disease,[] +"""GARD:0018937""",disorder of amino acid and other organic acid metabolism,[] +"""GARD:0018938""",folinic acid-responsive seizures,[] +"""GARD:0018939""",sympathetic ophthalmia,['sympathetic uveitis'] +"""GARD:0018940""",interstitial granulomatous dermatitis with arthritis,"['ackerman dermatitis syndrome', 'ackerman syndrome', 'igda']" +"""GARD:0018941""",myxofibrosarcoma,"['fibromyxosarcoma', 'myxoid malignant fibrous histiocytoma']" +"""GARD:0018942""",respiratory bronchiolitis-interstitial lung disease syndrome,['rb-ild'] +"""GARD:0018943""",trichodysplasia-amelogenesis imperfecta syndrome,[] +"""GARD:0018944""",bickerstaff brainstem encephalitis,[] +"""GARD:0018945""",cerebral organic aciduria,[] +"""GARD:0018946""",disorder of carbohydrate metabolism,[] +"""GARD:0018947""",classic organic aciduria,[] +"""GARD:0018948""",disorder of amino acid absorption and transport,[] +"""GARD:0018949""",disorder of bile acid synthesis,[] +"""GARD:0018950""",disorder of neurotransmitter metabolism and transport,[] +"""GARD:0018951""",disorder of cobalamin metabolism and transport,[] +"""GARD:0018952""",creatine deficiency syndrome,"['ccds', 'cds', 'cerebral creatine deficiency syndrome']" +"""GARD:0018953""",disorder of methionine cycle and sulfur amino acid metabolism,['cytosolic methyl group transfer or sulfur amino acid metabolism disorder'] +"""GARD:0018954""",disorder of fatty acid oxidation and ketone body metabolism,[] +"""GARD:0018955""",disorder of gamma-aminobutyric acid metabolism,['disorder of gaba metabolism'] +"""GARD:0018956""",gluconeogenesis disorder,[] +"""GARD:0018957""",glucose transport disorder,[] +"""GARD:0018958""",disorder of glycerol metabolism,[] +"""GARD:0018959""",disorder of histidine metabolism,[] +"""GARD:0018960""",disorder of ketolysis,[] +"""GARD:0018961""",disorder of ornithine or proline metabolism,[] +"""GARD:0018962""",disorder of pentose phosphate metabolism,[] +"""GARD:0018963""",disorder of peptide metabolism,[] +"""GARD:0018964""",disorder of phenylalanin or tyrosine metabolism,[] +"""GARD:0018965""",disorder of purine metabolism,[] +"""GARD:0018966""",disorder of pyridoxine metabolism,[] +"""GARD:0018967""",disorder of pyrimidine metabolism,[] +"""GARD:0018968""",disorder of serine or glycine metabolism,[] +"""GARD:0018969""",sterol biosynthesis disorder,[] +"""GARD:0018970""",disorder of the gamma-glutamyl cycle,[] +"""GARD:0018971""",disorder of branched-chain amino acid metabolism,[] +"""GARD:0018972""",disorder of energy metabolism,[] +"""GARD:0018973""",glycogen storage disease,"['gsd', 'glycogenosis']" +"""GARD:0018974""",disorder of lysosomal amino acid transport,[] +"""GARD:0018975""",mucolipidosis,[] +"""GARD:0018976""",disorder of biogenic amine metabolism and transport,[] +"""GARD:0018977""",oligosaccharidosis,[] +"""GARD:0018978""",other metabolic disease with skin involvement,[] +"""GARD:0018979""",metabolic disease involving other neurotransmitter deficiency,[] +"""GARD:0018980""",disorder of purine or pyrimidine metabolism,[] +"""GARD:0018981""",sterol metabolism disorder,[] +"""GARD:0018982""",classic phenylketonuria,['classic pku'] +"""GARD:0018983""",diazoxide-resistant focal hyperinsulinism,['hyperinsulinemic hypoglycemia; diazoxide-resistant focal form'] +"""GARD:0018984""",epidermal disease,[] +"""GARD:0018985""",ichthyosis,[] +"""GARD:0018986""",erythrokeratoderma,[] +"""GARD:0018987""",acrokeratoderma,[] +"""GARD:0018988""",hereditary palmoplantar keratoderma,"['hereditary ppk', 'hereditary keratosis palmoplantaris', 'hereditary palmoplantar hyperkeratosis']" +"""GARD:0018989""",porokeratosis,[] +"""GARD:0018990""",other epidermal disorder,[] +"""GARD:0018991""",other genetic epidermal disease,[] +"""GARD:0018992""",inherited epidermolysis bullosa,"['epidermolysis bullosa hereditaria', 'hereditary epidermolysis bullosa']" +"""GARD:0018993""",epidermal appendage anomaly,[] +"""GARD:0018994""",hair anomaly,[] +"""GARD:0018995""",alopecia,[] +"""GARD:0018996""",rare disorder with hypertrichosis,[] +"""GARD:0018997""",isolated hair shaft abnormality,[] +"""GARD:0018998""",syndromic hair shaft abnormality,[] +"""GARD:0018999""",nail anomaly,[] +"""GARD:0019000""",isolated nail anomaly,[] +"""GARD:0019001""",syndromic nail anomaly,[] +"""GARD:0019002""",sebaceous gland anomaly,[] +"""GARD:0019003""",pigmentation anomaly of the skin,[] +"""GARD:0019004""",hyperpigmentation of the skin,[] +"""GARD:0019005""",hypopigmentation of the skin,[] +"""GARD:0019006""",dermis disorder,[] +"""GARD:0019007""",dermis elastic tissue disorder,[] +"""GARD:0019008""",skin vascular disease,[] +"""GARD:0019009""",mixed dermis disorder,[] +"""GARD:0019010""",other dermis disorder,[] +"""GARD:0019011""",subcutaneous tissue disease,[] +"""GARD:0019012""",rare urticaria,[] +"""GARD:0019013""",unclassified genetic skin disorder,[] +"""GARD:0019014""",rare skin tumor or hamartoma,[] +"""GARD:0019015""",metabolic disease with skin involvement,[] +"""GARD:0019016""",mucopolysaccharidosis with skin involvement,['mps with skin involvement'] +"""GARD:0019017""",premature aging,[] +"""GARD:0019018""",rare photodermatosis,['rare skin photosensitivity'] +"""GARD:0019019""",immune deficiency with skin involvement,[] +"""GARD:0019020""",verrucous nevus,[] +"""GARD:0019021""",pemphigus vegetans,[] +"""GARD:0019022""",pemphigus erythematosus,"['seborrheic pemphigus', 'senear-usher syndrome']" +"""GARD:0019023""",phakomatosis cesioflammea,['phakomatosis pigmentovascularis type 2'] +"""GARD:0019024""",phakomatosis cesiomarmorata,['phakomatosis pigmentovascularis type 5'] +"""GARD:0019025""",phakomatosis spilorosea,['phakomatosis pigmentovascularis type 3'] +"""GARD:0019026""",pili gemini,['pili multigemini'] +"""GARD:0019027""",mild hyperphenylalaninemia,"['mild hpa', 'non-pku hpa', 'mhpa']" +"""GARD:0019028""",autoimmune bullous skin disease,[] +"""GARD:0019029""",urogenital tract malformation,[] +"""GARD:0019030""",rickettsialpox,[] +"""GARD:0019031""",boutonneuse fever,['mediterranean spotted fever'] +"""GARD:0019032""",epidemic typhus,[] +"""GARD:0019033""",murine typhus,"['endemic typhus', 'flea-borne typhus']" +"""GARD:0019034""",pseudotyphus of california,[] +"""GARD:0019035""",scrub typhus,"['tsutsugamushi disease', 'tsutsugamushi fever']" +"""GARD:0019036""",regional odontodysplasia,['ghost teeth'] +"""GARD:0019037""",vulvovaginal gingival syndrome,[] +"""GARD:0019038""",narcolepsy type 2,['narcolepsy without cataplexy'] +"""GARD:0019039""",solitary bone cyst,['unicameral bone cyst'] +"""GARD:0019040""",mycoplasma encephalitis,[] +"""GARD:0019041""",st. louis encephalitis,['saint louis encephalitis'] +"""GARD:0019042""",colorado tick fever,"['american mountain fever', 'colorado tick encephalitis', 'colorado tick-borne disease', 'mountain fever', 'mountain tick fever']" +"""GARD:0019043""",rubella panencephalitis,[] +"""GARD:0019044""",macrostomia-preauricular tags-external ophthalmoplegia syndrome,[] +"""GARD:0019045""",lumbar syndrome,"['lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome', 'pelvis syndrome', 'perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome', 'sacral syndrome']" +"""GARD:0019046""",idiopathic malabsorption due to bile acid synthesis defects,['idiopathic bile acid malabsorption'] +"""GARD:0019047""",hinman syndrome,"['has', 'hs', 'hinman-allen syndrome', 'non-neurogenic neurogenic bladder', 'occult neuropathic bladder']" +"""GARD:0019048""",collagen type iii glomerulopathy,['collagenofibrotic glomerulopathy'] +"""GARD:0019049""",craniofacial conodysplasia,[] +"""GARD:0019050""",astley-kendall dysplasia,[] +"""GARD:0019051""",dysspondyloenchondromatosis,[] +"""GARD:0019052""",ischiovertebral syndrome,"['ischiospinal dysostosis', 'ischiovertebral dysplasia']" +"""GARD:0019053""",x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome,[] +"""GARD:0019054""",x-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome,[] +"""GARD:0019055""",x-linked intellectual disability-macrocephaly-macroorchidism syndrome,['johnson syndrome'] +"""GARD:0019056""","x-linked intellectual disability, pai type",[] +"""GARD:0019057""","x-linked intellectual disability, seemanova type",[] +"""GARD:0019058""","x-linked intellectual disability, stevenson type",[] +"""GARD:0019059""","x-linked intellectual disability, stoll type",[] +"""GARD:0019060""",x-linked intellectual disability-acromegaly-hyperactivity syndrome,[] +"""GARD:0019061""","x-linked neurodegenerative syndrome, bertini type",[] +"""GARD:0019062""","x-linked neurodegenerative syndrome, hamel type",[] +"""GARD:0019063""",x-linked intellectual disability-ataxia-apraxia syndrome,[] +"""GARD:0019064""",rheumatoid factor-positive polyarticular juvenile idiopathic arthritis,"['juvenile idiopathic rheumatoid factor-positive polyarthritis', 'juvenile polyarthritis with rheumatoid factor', 'rheumatoid factor-positive polyarticular jia']" +"""GARD:0019065""",wild type abeta2m amyloidosis,"['abeta2mwt amyloidosis', 'dialysis-related amyloidosis', 'dialysis-related arthropathy', 'wild type abeta2-microglobulinic amyloidosis']" +"""GARD:0019066""",atypical lichen myxedematosus,['intermediate lichen myxedematosus'] +"""GARD:0019067""",lissencephaly type 3-familial fetal akinesia sequence syndrome,[] +"""GARD:0019068""",lissencephaly with cerebellar hypoplasia,['lch'] +"""GARD:0019069""",refractory cytopenia with multilineage dysplasia,[] +"""GARD:0019070""",refractory anemia with excess blasts,['raeb'] +"""GARD:0019071""",acute basophilic leukemia,[] +"""GARD:0019072""",splenic marginal zone lymphoma,['smzl'] +"""GARD:0019073""",non-amyloid monoclonal immunoglobulin deposition disease,"['non-amyloid midd', 'randall disease']" +"""GARD:0019074""",heavy chain disease,['hcd'] +"""GARD:0019075""",nodal marginal zone b-cell lymphoma,['nmzl'] +"""GARD:0019076""",adult t-cell leukemia/lymphoma,['atll'] +"""GARD:0019077""",hepatosplenic t-cell lymphoma,[] +"""GARD:0019078""",primary cutaneous peripheral t-cell lymphoma not otherwise specified,"['primary cutaneous peripheral t-cell lymphoma nos', 'primary cutaneous unspecified peripheral t-cell lymphoma']" +"""GARD:0019079""",nodular lymphocyte predominant hodgkin lymphoma,['nlphl'] +"""GARD:0019080""",histiocytic sarcoma,[] +"""GARD:0019081""",follicular dendritic cell sarcoma,[] +"""GARD:0019082""",dendritic cell sarcoma not otherwise specified,[] +"""GARD:0019083""",methotrexate-associated lymphoproliferative disorders,"['mtx-lpd', 'mtx-associated lymphoproliferative disorders']" +"""GARD:0019084""",hypothalamic hamartomas with gelastic seizures,[] +"""GARD:0019085""",idiopathic hemiconvulsion-hemiplegia syndrome,"['hhe syndrome', 'hemiconvulsion-hemiplegia-epilepsy syndrome', 'ihhs']" +"""GARD:0019086""",myoclonic epilepsy of infancy,"['benign myoclonic epilepsy of infancy', 'benign myoclonus epilepsy of infancy']" +"""GARD:0019087""",epilepsy with myoclonic absences,[] +"""GARD:0019088""",myoclonic epilepsy in non-progressive encephalopathies,"['myoclonic status in non-progressive encephalopathies', 'myoclonus epilepsy in non-progressive encephalopathies']" +"""GARD:0019089""",diffuse palmoplantar keratoderma-acrocyanosis syndrome,['diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome'] +"""GARD:0019090""",rare intellectual disability,[] +"""GARD:0019091""",non-syndromic genetic deafness,"['isolated genetic deafness', 'isolated genetic hearing loss', 'non-syndromic genetic hearing loss']" +"""GARD:0019092""",obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome,[] +"""GARD:0019093""",hypertension due to gain-of-function mutations in the mineralocorticoid receptor,"['early-onset hypertension with exacerbation in pregnancy', 'pseudohyperaldosteronism type 2']" +"""GARD:0019094""",rare congenital non-syndromic heart malformation,[] +"""GARD:0019095""",esophageal malformation,[] +"""GARD:0019096""",rare dementia,[] +"""GARD:0019097""",undifferentiated connective tissue syndrome,['uctd'] +"""GARD:0019098""",inflammatory pseudotumor of the liver,[] +"""GARD:0019099""",radiation myelitis,[] +"""GARD:0019100""",non-syndromic syndactyly,[] +"""GARD:0019101""",mixed-type autoimmune hemolytic anemia,['mixed aiha'] +"""GARD:0019102""",drug-induced autoimmune hemolytic anemia,['drug-induced aiha'] +"""GARD:0019103""",hemoglobin d disease,[] +"""GARD:0019104""",gaisböck syndrome,"['stress erythrocytosis', 'stress polycythemia']" +"""GARD:0019105""",sepsis in premature infants,[] +"""GARD:0019106""",recurrent hepatitis c virus induced liver disease in liver transplant recipients,[] +"""GARD:0019107""",complications after hematopoietic stem cell transplantation,['complications after hsct'] +"""GARD:0019108""",moderate and severe traumatic brain injury,[] +"""GARD:0019109""",spinal cord injury,[] +"""GARD:0019110""",diffuse alveolar hemorrhage,[] +"""GARD:0019111""",non-infectious posterior uveitis,['non-infectious choroiditis'] +"""GARD:0019112""",acute liver failure,"['acute hepatic failure', 'fulminant hepatic failure']" +"""GARD:0019113""",acute peripheral arterial occlusion,[] +"""GARD:0019114""",acquired aneurysmal subarachnoid hemorrhage,[] +"""GARD:0019115""",cocaine intoxication,[] +"""GARD:0019116""",systemic monochloroacetate poisoning,[] +"""GARD:0019117""",hepatitis b reinfection following liver transplantation,[] +"""GARD:0019118""",partial deep dermal and full thickness burns,[] +"""GARD:0019119""",other acquired skin disease,[] +"""GARD:0019120""",invasive infections due to vancomycin-resistant enterococci,['invasive infections due to vre'] +"""GARD:0019121""",scarring in glaucoma filtration surgical procedures,[] +"""GARD:0019122""",aids wasting syndrome,[] +"""GARD:0019123""",severe early-onset axonal neuropathy due to mfn2 deficiency,"['ar-cmt2; ouvrier type', 'autosomal recessive charcot-marie-tooth disease; ouvrier type', 'seoan due to mfn2 deficiency']" +"""GARD:0019124""",hereditary motor and sensory neuropathy with acrodystrophy,"['ar-cmt2 with acrodystrophy', 'autosomal recessive charcot-marie-tooth type 2 with acrodystrophy', 'autosomal recessive axonal charcot-marie-tooth disease with acrodystrophy', 'hmsn with acrodystrophy']" +"""GARD:0019125""",centrifugal lipodystrophy,['lipodystrophia centrifugalis abdominalis infantilis'] +"""GARD:0019126""",drug-induced localized lipodystrophy,['lipoatrophy caused by injected drug'] +"""GARD:0019127""",idiopathic localized lipodystrophy,[] +"""GARD:0019128""",panniculitis-induced localized lipodystrophy,[] +"""GARD:0019129""",pressure-induced localized lipoatrophy,"['lipoatrophia semicircularis', 'semicircular lipoatrophy']" +"""GARD:0019130""",chilblain lupus,[] +"""GARD:0019131""",discoid lupus erythematosus,[] +"""GARD:0019132""",hypertrophic or verrucous lupus erythematosus,[] +"""GARD:0019133""",lupus erythematosus panniculitis,['lupus erythematosus profundus'] +"""GARD:0019134""",autosomal recessive cutis laxa type 2,"['arcl2', 'cutis laxa with joint laxity and developmental delay']" +"""GARD:0019135""",secondary intestinal lymphangiectasia,[] +"""GARD:0019136""",telangiectasia macularis eruptiva perstans,[] +"""GARD:0019137""",nodular lichen myxedematosus,['atypical tuberous myxedema of jadassohn-dosseker'] +"""GARD:0019138""",discrete papular lichen myxedematosus,[] +"""GARD:0019139""",papular mucinosis of infancy,['cutaneous mucinosis of infancy'] +"""GARD:0019140""",acral persistent papular mucinosis,[] +"""GARD:0019141""",self-healing papular mucinosis,[] +"""GARD:0019142""",localized lichen myxedematosus with mixed features of different subtypes,[] +"""GARD:0019143""",localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms,[] +"""GARD:0019144""",scleromyxedema without monoclonal gammopathy,[] +"""GARD:0019145""",syndromic genetic deafness,['syndromic genetic hearing loss'] +"""GARD:0019146""",rare endocrine growth disease,[] +"""GARD:0019147""",disorder of sex development,['dsd'] +"""GARD:0019148""","46,xx disorder of sex development induced by fetal androgens excess",['46;xx dsd induced by fetal androgens excess'] +"""GARD:0019149""","46,xy disorder of sex development due to a testosterone synthesis defect",['46;xy dsd due to a testosterone synthesis defect'] +"""GARD:0019150""","46,xy disorder of sex development due to adrenal and testicular steroidogenesis defect",['46;xy dsd due to adrenal and testicular steroidogenesis defect'] +"""GARD:0019151""","46,xy disorder of sex development due to testicular steroidogenesis defect",['46;xy dsd due to testicular steroidogenesis defect'] +"""GARD:0019152""",other metabolic disease,[] +"""GARD:0019153""",adenovirus infection in immunocompromised patients,[] +"""GARD:0019154""",acquired monoclonal ig light chain-associated fanconi syndrome,"['acquired fanconi syndrome secondary to monoclonal gammopathy', 'acquired monoclonal immunoglobulin light chain-associated fanconi syndrome']" +"""GARD:0019155""",unspecified juvenile idiopathic arthritis,['unspecified jia'] +"""GARD:0019156""","46,xx disorder of sex development induced by maternal-derived androgen",['46;xx dsd induced by maternal-derived androgen'] +"""GARD:0019157""",tsh-secreting pituitary adenoma,"['pituitary thyrotrophic adenoma', 'tsh-oma', 'thyroid stimulating hormone-secreting pituitary adenoma', 'thyrotroph adenoma']" +"""GARD:0019158""",functioning gonadotropic adenoma,"['functioning pituitary gonadotropic adenoma', 'gonadotroph adenoma']" +"""GARD:0019159""",non-functioning pituitary adenoma,['nfpa'] +"""GARD:0019160""",pituitary deficiency due to rathke cleft cysts,[] +"""GARD:0019161""",pituitary dermoid and epidermoid cysts,[] +"""GARD:0019162""",germinoma of the central nervous system,[] +"""GARD:0019163""",pituitary deficiency due to empty sella turcica syndrome,['hypopituitarism due to empty sella turcica syndrome'] +"""GARD:0019164""",duplication of the esophagus,[] +"""GARD:0019165""",congenital esophageal diverticulum,['congenital esophageal pouch'] +"""GARD:0019166""",chronic pneumonitis of infancy,['cpi'] +"""GARD:0019167""",non-specific interstitial pneumonia,"['nsip', 'non-specific idiopathic interstitial pneumonia']" +"""GARD:0019168""",isolated ankyloblepharon filiforme adnatum,[] +"""GARD:0019169""",congenital ectropion uveae,[] +"""GARD:0019170""",lyme disease,['lyme borreliosis'] +"""GARD:0019171""",relapsing fever,[] +"""GARD:0019172""",renal hypoplasia,[] +"""GARD:0019173""",renal dysplasia,['kidney dysplasia'] +"""GARD:0019174""",congenital megacalycosis,[] +"""GARD:0019175""",pauci-immune glomerulonephritis,[] +"""GARD:0019176""",transient pseudohypoaldosteronism,"['secondary pseudohypoaldosteronism', 'tpha']" +"""GARD:0019177""","renal dysplasia, unilateral",['kidney dysplasia; unilateral'] +"""GARD:0019178""","renal dysplasia, bilateral",['kidney dysplasia; bilateral'] +"""GARD:0019179""",unilateral congenital megacalycosis,[] +"""GARD:0019180""",congenital bilateral megacalycosis,[] +"""GARD:0019181""",monostotic fibrous dysplasia,['jaffe-lichtenstein disease'] +"""GARD:0019182""",ulnar hemimelia,"['congenital longitudinal deficiency of the ulna', 'ulnar clubhand', 'ulnar longitudinal meromelia']" +"""GARD:0019183""",juvenile sialidosis type 2,[] +"""GARD:0019184""",congenital sialidosis type 2,[] +"""GARD:0019185""",fgfr3-related chondrodysplasia,[] +"""GARD:0019186""",type 2 collagen-related bone disorder,[] +"""GARD:0019187""",type 11 collagen-related bone disorder,[] +"""GARD:0019188""",sulfation-related bone disorder,[] +"""GARD:0019189""",perlecan-related bone disorder,[] +"""GARD:0019190""",filamin-related bone disorder,['bone filaminopathy'] +"""GARD:0019191""",multiple epiphyseal dysplasia and pseudoachondroplasia,[] +"""GARD:0019192""",multiple metaphyseal dysplasia,[] +"""GARD:0019193""",spondylodysplastic dysplasia,[] +"""GARD:0019194""",acromelic dysplasia,[] +"""GARD:0019195""",mesomelic and rhizo-mesomelic dysplasia,[] +"""GARD:0019196""",campomelic dysplasia and related disorders,['bent bone dysplasia'] +"""GARD:0019197""",slender bone dysplasia,[] +"""GARD:0019198""",primary bone dysplasia with multiple joint dislocations,"['primary osteodysplasia with multiple joint dislocations', 'primary skeletal dysplasia with multiple joint dislocations']" +"""GARD:0019199""",neonatal osteosclerotic dysplasia,[] +"""GARD:0019200""",primary bone dysplasia with increased bone density,"['primary osteodysplasia with increased bone density', 'primary skeletal dysplasia with increased bone density', 'sclerosing bone dysplasia']" +"""GARD:0019201""",primary bone dysplasia with decreased bone density,"['primary osteodysplasia with decreased bone density', 'primary skeletal dysplasia with decreased bone density']" +"""GARD:0019202""",primary bone dysplasia with defective bone mineralization,"['primary osteodysplasia with defective bone mineralization', 'primary skeletal dysplasia with defective bone mineralization']" +"""GARD:0019203""",lysosomal storage disease with skeletal involvement,['dysostosis multiplex'] +"""GARD:0019204""",primary osteolysis,[] +"""GARD:0019205""",primary bone dysplasia with disorganized development of skeletal components,"['primary osteodysplasia with disorganized development of skeletal components', 'primary skeletal dysplasia with disorganized development of skeletal components']" +"""GARD:0019206""",cleidocranial dysplasia and isolated cranial ossification defect,[] +"""GARD:0019207""",dysostosis with predominant craniofacial involvement,[] +"""GARD:0019208""",dysostosis with predominant vertebral and costal involvement,[] +"""GARD:0019209""",patellar dysostosis,[] +"""GARD:0019210""",non-syndromic limb reduction defect,['non-syndromic limb hypoplasia'] +"""GARD:0019211""","non-syndromic polydactyly, syndactyly and/or hyperphalangy",[] +"""GARD:0019212""",syndrome with synostosis or other joint formation defect,[] +"""GARD:0019213""",overgrowth syndrome,[] +"""GARD:0019214""",chromosomal disease with overgrowth,[] +"""GARD:0019215""",lethal chondrodysplasia,[] +"""GARD:0019216""",renal or urinary tract malformation,"['cakut', 'congenital anomalies of kidney and urinary tract']" +"""GARD:0019217""",non-syndromic renal or urinary tract malformation,[] +"""GARD:0019218""",syndromic renal or urinary tract malformation,[] +"""GARD:0019219""",pediatric systemic lupus erythematosus,['sle; pediatric onset'] +"""GARD:0019220""",mixed cryoglobulinemia type ii,['mc type ii'] +"""GARD:0019221""",mixed cryoglobulinemia type iii,['mc type iii'] +"""GARD:0019222""",heavy chain deposition disease,['hcdd'] +"""GARD:0019223""",light and heavy chain deposition disease,['lhcdd'] +"""GARD:0019224""",aapoai amyloidosis,"['apolipoprotein a-i amyloidosis', 'familial amyloid nephropathy due to apolipoprotein a-i variant', 'familial renal amyloidosis due to apolipoprotein a-i variant', 'hereditary amyloid nephropathy due to apolipoprotein a-i variant', 'hereditary renal amyloidosis due to apolipoprotein a-i variant']" +"""GARD:0019225""",alys amyloidosis,"['familial amyloid nephropathy due to lysozyme variant', 'familial renal amyloidosis due to lysozyme variant', 'hereditary amyloid nephropathy due to lysozyme variant', 'hereditary renal amyloidosis due to lysozyme variant', 'lysozyme amyloidosis']" +"""GARD:0019226""",afib amyloidosis,"['familial amyloid nephropathy due to fibrinogen a alpha-chain variant', 'fibrinogen a alpha-chain amyloidosis', 'hereditary amyloid nephropathy due to fibrinogen a alpha-chain variant', 'hereditary renal amyloidosis due to fibrinogen a alpha-chain variant']" +"""GARD:0019227""",thrombotic microangiopathy,['tma'] +"""GARD:0019228""",genetic cystic renal disease,['hereditary cystic renal disease'] +"""GARD:0019229""",nephropathy secondary to a storage or other metabolic disease,[] +"""GARD:0019230""",rare renal tubular disease,[] +"""GARD:0019231""",hematological disorder with renal involvement,[] +"""GARD:0019232""",rare cause of hypertension,[] +"""GARD:0019233""",rare renal tumor,[] +"""GARD:0019234""",autoinflammatory syndrome,[] +"""GARD:0019235""",isolated epispadias,[] +"""GARD:0019236""",laryngotracheoesophageal cleft type 1,"['ltec i', 'ltec1', 'laryngo-tracheo-esophageal cleft type 1']" +"""GARD:0019237""",laryngotracheoesophageal cleft type 2,"['ltec ii', 'ltec2', 'laryngo-tracheo-esophageal cleft type 2']" +"""GARD:0019238""",laryngotracheoesophageal cleft type 4,"['ltec iv', 'ltec4', 'laryngo-tracheo-esophageal cleft type 4']" +"""GARD:0019239""","x-linked intellectual disability, porteous type",[] +"""GARD:0019240""",hamel cerebro-palato-cardiac syndrome,[] +"""GARD:0019241""","x-linked intellectual disability, golabi-ito-hall type",[] +"""GARD:0019242""","x-linked intellectual disability, sutherland-haan type",[] +"""GARD:0019243""",oromandibular dystonia,[] +"""GARD:0019244""",humero-ulnar synostosis,['humero-ulnar fusion'] +"""GARD:0019245""",neovascular glaucoma,[] +"""GARD:0019246""",uremic pruritus,[] +"""GARD:0019247""",severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia,[] +"""GARD:0019248""",non-functioning paraganglioma,['non-secreting paraganglioma'] +"""GARD:0019249""",cytophagic histiocytic panniculitis,"['chp', 'winkelmann cytophagic panniculitis']" +"""GARD:0019250""",mills syndrome,[] +"""GARD:0019251""",recessive mitochondrial ataxia syndrome,['miras'] +"""GARD:0019252""",autosomal dominant cerebellar ataxia type i,"['adca1', 'adcai', 'autosomal dominant cerebellar ataxia type 1', 'cerebellar plus syndrome']" +"""GARD:0019253""",autosomal dominant cerebellar ataxia type iii,"['adca3', 'adcaiii', 'autosomal dominant cerebellar ataxia type 3', 'pure cerebellar syndrome-mild pyramidal signs syndrome']" +"""GARD:0019254""",autosomal dominant cerebellar ataxia type iv,"['adca4', 'adcaiv', 'autosomal dominant cerebellar ataxia type 4']" +"""GARD:0019255""",acute hepatic porphyria,[] +"""GARD:0019256""",chronic hepatic porphyria,[] +"""GARD:0019257""",acute adrenal insufficiency,"['acute adrenal failure', 'acute adrenocortical insufficiency', 'addisonian crisis', 'adrenal crisis', 'adrenocortical crisis']" +"""GARD:0019258""",secondary short bowel syndrome,[] +"""GARD:0019259""",mesocardia,['midline heart'] +"""GARD:0019260""",congenital aortic valve atresia,[] +"""GARD:0019261""",tricuspid valve agenesis,['congenital unguarded tricuspid orifice'] +"""GARD:0019262""",congenital tricuspid stenosis,[] +"""GARD:0019263""",straddling or overriding tricuspid valve,[] +"""GARD:0019264""",accessory tricuspid valve tissue,[] +"""GARD:0019265""",anomaly of the tricuspid subvalvular apparatus,[] +"""GARD:0019266""",congenital mitral valve insufficiency and/or stenosis,[] +"""GARD:0019267""",cleft mitral valve,[] +"""GARD:0019268""",double-orifice mitral valve,[] +"""GARD:0019269""",univentricular cardiopathy,[] +"""GARD:0019270""",arterial duct anomaly,['patent ductus arteriosus anomalies'] +"""GARD:0019271""",premature closure of the arterial duct,['premature closure of the patent ductus arteriosus'] +"""GARD:0019272""",non-acquired pituitary hormone deficiency,[] +"""GARD:0019273""",congenital coronary artery aneurysm,['congenital coronary aneurysm'] +"""GARD:0019274""",disease associated with non-acquired combined pituitary hormone deficiency,[] +"""GARD:0019275""",congenital anomaly of superior vena cava,"['congenital anomaly of superior caval vein', 'congenital anomaly of the svc']" +"""GARD:0019276""",congenital anomaly of the inferior vena cava,"['congenital anomaly of the ivc', 'congenital anomaly of the inferior caval vein']" +"""GARD:0019277""",congenital anomaly of the coronary sinus,[] +"""GARD:0019278""",acquired pituitary hormone deficiency,[] +"""GARD:0019279""",pituitary hormone deficiency of tumoral origin,[] +"""GARD:0019280""",pituitary hormone deficiency of meningeal origin,[] +"""GARD:0019281""",primary hypophysitis,['autoimmune hypophysitis'] +"""GARD:0019282""",congenital anomaly of hepatic vein,[] +"""GARD:0019283""",atrial appendage anomaly,['atrial auricle anomaly'] +"""GARD:0019284""",adenohypophysitis,['anterior pituitary hypophysitis'] +"""GARD:0019285""",panhypophysitis,['infundibulo-panhypophysitis'] +"""GARD:0019286""",pituitary hormone deficiency of vascular origin,[] +"""GARD:0019287""",pituitary apoplexy,['pituitary tumor apoplexy'] +"""GARD:0019288""",pituitary hormone deficiency secondary to a granulomatous disease,[] +"""GARD:0019289""",pituitary hormone deficiency secondary to storage disease,[] +"""GARD:0019290""",post-traumatic pituitary deficiency,[] +"""GARD:0019291""",acquired central diabetes insipidus,"['acquired cdi', 'acquired neurogenic diabetes insipidus']" +"""GARD:0019292""",idiopathic isolated micropenis,[] +"""GARD:0019293""",acquired premature ovarian failure,[] +"""GARD:0019294""",non-acquired premature ovarian failure,[] +"""GARD:0019295""",congenital hypothyroidism due to developmental anomaly,['primary congenital hypothyroidism due to developmental anomaly'] +"""GARD:0019296""",primary congenital hypothyroidism without thyroid developmental anomaly,[] +"""GARD:0019297""",congenital hypothyroidism due to transplacental passage of tsh-binding inhibitory antibodies,[] +"""GARD:0019298""",idiopathic congenital hypothyroidism,[] +"""GARD:0019299""",congenital thyroid malformation without hypothyroidism,[] +"""GARD:0019300""",mosaic trisomy 4,"['mosaic trisomy chromosome 4', 'trisomy 4 mosaicism']" +"""GARD:0019301""",mosaic trisomy 5,"['mosaic trisomy chromosome 5', 'trisomy 5 mosaicism']" +"""GARD:0019302""",mosaic trisomy 10,"['mosaic trisomy chromosome 10', 'trisomy 10 mosaicism']" +"""GARD:0019303""",distal trisomy 1p36,"['distal duplication 1p36', 'telomeric duplication 1p36', 'trisomy 1pter']" +"""GARD:0019304""",distal trisomy 2p,"['distal duplication 2p', 'telomeric duplication 2p', 'trisomy 2pter']" +"""GARD:0019305""",distal trisomy 3p,"['distal duplication 3p', 'telomeric duplication 3p', 'trisomy 3pter']" +"""GARD:0019306""",4p16.3 microduplication syndrome,"['distal duplication 4p', 'distal trisomy 4p', 'telomeric duplication 4p', 'trisomy 4pter']" +"""GARD:0019307""",distal trisomy 7p,"['distal duplication 7p', 'telomeric duplication 7p', 'trisomy 7pter']" +"""GARD:0019308""",beckwith-wiedemann syndrome due to 11p15 microduplication,[] +"""GARD:0019309""",8p inverted duplication/deletion syndrome,"['invdupdel(8p)', 'inverted 8p duplication/deletion syndrome']" +"""GARD:0019310""",distal trisomy 2q,"['distal duplication 2q', 'telomeric duplication 2q', 'trisomy 2qter']" +"""GARD:0019311""",3q26 microduplication syndrome,"['dup(3)(q26)', 'dup(3q) syndrome', 'trisomy 3q26']" +"""GARD:0019312""",distal trisomy 4q,"['distal duplication 4q', 'telomeric duplication 4q', 'trisomy 4qter']" +"""GARD:0019313""",distal trisomy 5q,"['distal duplication 5q', 'telomeric duplication 5q', 'trisomy 5qter']" +"""GARD:0019314""",distal trisomy 6q,"['distal duplication 6q', 'telomeric duplication 6q', 'trisomy 6qter']" +"""GARD:0019315""",distal trisomy 8q,"['distal duplication 8q', 'telomeric duplication 8q', 'trisomy 8qter']" +"""GARD:0019316""",distal trisomy 9q,"['distal duplication 9q', 'telomeric duplication 9q', 'trisomy 9qter']" +"""GARD:0019317""",distal trisomy 10q,"['distal duplication 10q', 'telomeric duplication 10q', 'trisomy 10qter']" +"""GARD:0019318""",distal trisomy 11q,"['distal duplication 11q', 'telomeric duplication 11q', 'trisomy 11qter']" +"""GARD:0019319""",distal trisomy 13q,"['distal duplication 13q', 'telomeric duplication 13q', 'trisomy 13qter']" +"""GARD:0019320""",distal trisomy 16q,"['distal duplication 16q', 'telomeric duplication 16q', 'trisomy 16qter']" +"""GARD:0019321""",distal trisomy 20q,"['distal duplication 20q', 'telomeric duplication 20q', 'trisomy 20qter']" +"""GARD:0019322""",distal trisomy 22q,"['distal duplication 22q', 'telomeric duplication 22q', 'trisomy 22qter']" +"""GARD:0019323""",non-distal trisomy 9q,"['non-distal duplication 9q', 'non-telomeric trisomy 9q']" +"""GARD:0019324""",monosomy 22,"['del(22)', 'deletion 22']" +"""GARD:0019325""",distal monosomy 7p,"['distal deletion 7p', 'monosomy 7pter', 'telomeric deletion 7p']" +"""GARD:0019326""",distal monosomy 19p13.3,"['distal deletion 19p', 'telomeric deletion 19p']" +"""GARD:0019327""",distal monosomy 4q,"['distal deletion 4q', 'monosomy 4qter', 'telomeric deletion 4q']" +"""GARD:0019328""",distal monosomy 12q,"['distal deletion 12q', 'monosomy 12qter', 'telomeric deletion 12q']" +"""GARD:0019329""",distal monosomy 14q,"['distal deletion 14q', 'telomeric deletion 14q']" +"""GARD:0019330""",non-distal monosomy 12q,"['non-distal deletion 12q', 'non-telomeric monosomy 12q']" +"""GARD:0019331""",maternal uniparental disomy of chromosome 2,['upd(2)mat'] +"""GARD:0019332""",maternal uniparental disomy of chromosome 4,['upd(4)mat'] +"""GARD:0019333""",maternal uniparental disomy of chromosome 6,['upd(6)mat'] +"""GARD:0019334""",silver-russell syndrome due to maternal uniparental disomy of chromosome 7,['upd(7)mat'] +"""GARD:0019335""",maternal uniparental disomy of chromosome 9,['upd(9)mat'] +"""GARD:0019336""",maternal uniparental disomy of chromosome 16,['upd(16)mat'] +"""GARD:0019337""",maternal uniparental disomy of chromosome 21,['upd(21)mat'] +"""GARD:0019338""",maternal uniparental disomy of chromosome 22,['upd(22)mat'] +"""GARD:0019339""",paternal uniparental disomy of chromosome 5,['upd(5)pat'] +"""GARD:0019340""",paternal uniparental disomy of chromosome 6,['upd(6)pat'] +"""GARD:0019341""",paternal uniparental disomy of chromosome 7,['upd(7)pat'] +"""GARD:0019342""",beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11,"['mosaic paternal uniparental disomy of chromosome 11', 'upd(11)pat']" +"""GARD:0019343""",paternal uniparental disomy of chromosome 20,"['paternal upd(20)', 'upd(20)pat']" +"""GARD:0019344""",paternal uniparental disomy of chromosome 21,['upd(21)pat'] +"""GARD:0019345""",x small rings,[] +"""GARD:0019346""",rare genetic deafness,['rare genetic hearing loss'] +"""GARD:0019347""",isolated partial vaginal agenesis,['congenital absence of vagina'] +"""GARD:0019348""",polyploidy,[] +"""GARD:0019349""",isochromosome y,[] +"""GARD:0019350""",rare otorhinolaryngological malformation,[] +"""GARD:0019351""",anorectal malformation,['arm'] +"""GARD:0019352""",early-onset schizophrenia,[] +"""GARD:0019353""",solar urticaria,[] +"""GARD:0019354""",zebra body myopathy,[] +"""GARD:0019355""",mega-cisterna magna,[] +"""GARD:0019356""",grfoma,"['grf tumor', 'growth hormone releasing factor tumor']" +"""GARD:0019357""",encephalitis,[] +"""GARD:0019358""",ppoma,['pancreatic polypeptidoma'] +"""GARD:0019359""",thyroid lymphoma,[] +"""GARD:0019360""",bronchial neuroendocrine tumor,['bronchial net'] +"""GARD:0019361""",thymic neuroendocrine tumor,[] +"""GARD:0019362""",cardiogenic shock,[] +"""GARD:0019363""",rare benign ovarian tumor,[] +"""GARD:0019364""",osgood-schlatter disease,"['aseptic necrosis of the tibial tubercle', 'osteochondrosis of the tibial tubercle']" +"""GARD:0019365""",panner disease,"['aseptic necrosis of the capital humerus', 'osteochondrosis of the capital humerus']" +"""GARD:0019366""",sinding-larsen-johansson disease,"['aseptic necrosis of patella', 'osteochondrosis of patella']" +"""GARD:0019367""",melanoma of soft tissue,['clear cell sarcoma of the tendons and aponeuroses'] +"""GARD:0019368""",dural sinus malformation,"['cranial dural arteriovenous fistula', 'cranial dural arteriovenous malformations']" +"""GARD:0019369""",persistent placoid maculopathy,[] +"""GARD:0019370""",postencephalitic parkinsonism,[] +"""GARD:0019371""",dementia pugilistica,"[""boxer's dementia"", 'chronic traumatic encephalopathy', 'punch-drunk syndrome']" +"""GARD:0019372""",caribbean parkinsonism,['atypical parkinsonism in the caribbean'] +"""GARD:0019373""","renal hypoplasia, unilateral",[] +"""GARD:0019374""","renal hypoplasia, bilateral",[] +"""GARD:0019375""",unilateral multicystic dysplastic kidney,"['unilateral mcdk', 'unilateral multicystic renal dysplasia']" +"""GARD:0019376""",multiloculated renal cyst,"['multilocular cyst of the kidney', 'multilocular renal cyst']" +"""GARD:0019377""",renal tubular dysgenesis due to twin-twin transfusion,[] +"""GARD:0019378""",drug-related renal tubular dysgenesis,[] +"""GARD:0019379""",pauci-immune glomerulonephritis with anca,['pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody'] +"""GARD:0019380""",pauci-immune glomerulonephritis without anca,"['antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis', 'pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody']" +"""GARD:0019381""",congenital renal artery stenosis,['congenital renovascular hypoplasia'] +"""GARD:0019382""",maternal uniparental disomy of chromosome 13,['upd(13)mat'] +"""GARD:0019383""",gastroduodenal malformation,[] +"""GARD:0019384""",intestinal malformation,[] +"""GARD:0019385""",respiratory or thoracic malformation,[] +"""GARD:0019386""",infectious disease of the nervous system,[] +"""GARD:0019387""",rare headache,[] +"""GARD:0019388""",rare disease with odontological manifestation,[] +"""GARD:0019389""",rare neurologic disease with psychiatric involvement,[] +"""GARD:0019390""",cranial malformation,[] +"""GARD:0019391""",digestive tract malformation,[] +"""GARD:0019392""","visceral malformation of the liver, biliary tract, pancreas or spleen",[] +"""GARD:0019393""",diaphragmatic or abdominal wall malformation,[] +"""GARD:0019394""",central nervous system malformation,[] +"""GARD:0019395""",respiratory or mediastinal malformation,[] +"""GARD:0019396""",rare male infertility,[] +"""GARD:0019397""",rare female infertility,[] +"""GARD:0019398""",rare allergic respiratory disease,['rare respiratory allergy'] +"""GARD:0019399""",rare genetic cardiac disease,[] +"""GARD:0019400""",rare genetic renal disease,[] +"""GARD:0019401""",rare tumor,['rare neoplasm'] +"""GARD:0019402""",rare urinary tract tumor,"['rare urinary tract cancer', 'rare urinary tract neoplasm']" +"""GARD:0019403""",rare digestive tumor,"['rare digestive cancer', 'rare digestive neoplasm']" +"""GARD:0019404""",rare respiratory tumor,"['rare respiratory cancer', 'rare respiratory neoplasm']" +"""GARD:0019405""",rare otorhinolaryngologic tumor,"['rare orl cancer', 'rare orl neoplasm', 'rare orl tumor']" +"""GARD:0019406""",rare nervous system tumor,['rare nervous system neoplasm'] +"""GARD:0019407""",rare gynecological tumor,"['rare gynaecological cancer', 'rare gynaecological neoplasm']" +"""GARD:0019408""",gonadal dysgenesis of gynecological interest,[] +"""GARD:0019409""","46,xx disorder of sex development induced by androgens excess",['46;xx dsd induced by androgens excess'] +"""GARD:0019410""","46,xy disorder of sex development due to a defect in testosterone metabolism by peripheral tissue",[] +"""GARD:0019411""","syndrome with 46,xy disorder of sex development",['syndrome with 46;xy dsd'] +"""GARD:0019412""",autosomal recessive congenital cerebellar ataxia,[] +"""GARD:0019413""",autosomal recessive metabolic cerebellar ataxia,[] +"""GARD:0019414""",autosomal recessive cerebellar ataxia due to a dna repair defect,[] +"""GARD:0019415""",autosomal recessive degenerative and progressive cerebellar ataxia,[] +"""GARD:0019416""",autosomal recessive syndromic cerebellar ataxia,[] +"""GARD:0019417""",autosomal anomaly,[] +"""GARD:0019418""",autosomal trisomy,['autosomal duplication'] +"""GARD:0019419""",total autosomal trisomy,[] +"""GARD:0019420""",partial autosomal trisomy/tetrasomy,[] +"""GARD:0019421""",total autosomal monosomy,[] +"""GARD:0019422""",partial autosomal monosomy,['partial autosomal deletion'] +"""GARD:0019423""",autosomal uniparental disomy,[] +"""GARD:0019424""",maternal uniparental disomy,[] +"""GARD:0019425""",paternal uniparental disomy,[] +"""GARD:0019426""",sex-chromosome anomaly,['allosome anomaly'] +"""GARD:0019427""",sex-chromosome number anomaly,['allosome number anomaly'] +"""GARD:0019428""",sex-chromosome structural anomaly,['allosome structural anomaly'] +"""GARD:0019429""",chromosome y structural anomaly,[] +"""GARD:0019430""",chromosome x structural anomaly,[] +"""GARD:0019431""",malformation syndrome with hamartosis,['dysmorphologic diseases with phakomatosis'] +"""GARD:0019432""",combined dystonia,['dystonia-plus syndrome'] +"""GARD:0019433""",infectious encephalitis,[] +"""GARD:0019434""",chronic encephalitis,[] +"""GARD:0019435""",neonatal epilepsy syndrome,[] +"""GARD:0019436""",infantile epilepsy syndrome,[] +"""GARD:0019437""",childhood-onset epilepsy syndrome,[] +"""GARD:0019438""",adolescent-onset epilepsy syndrome,[] +"""GARD:0019439""",genetic non-syndromic obesity,['monogenic obesity due to a leptin-melanocortin pathway anomaly'] +"""GARD:0019440""",plasma cell tumor,[] +"""GARD:0019441""",histiocytic and dendritic cell tumor,[] +"""GARD:0019442""",macrophage or histiocytic tumor,[] +"""GARD:0019443""",immunodeficiency-associated lymphoproliferative disease,[] +"""GARD:0019444""",laminopathy,[] +"""GARD:0019445""",male infertility due to gonadal dysgenesis,['male infertility due to testicular dysgenesis'] +"""GARD:0019446""",male infertility due to obstructive azoospermia,['male infertility due to impaired sperm transport'] +"""GARD:0019447""",autosomal dominant isolated diffuse palmoplantar keratoderma,['autosomal dominant isolated diffuse palmoplantar hyperkeratosis'] +"""GARD:0019448""",autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature,['autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature'] +"""GARD:0019449""",autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature,['autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature'] +"""GARD:0019450""",autosomal recessive isolated diffuse palmoplantar keratoderma,['autosomal recessive isolated diffuse palmoplantar hyperkeratosis'] +"""GARD:0019451""",autosomal recessive disease with focal palmoplantar keratoderma as a major feature,['autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature'] +"""GARD:0019452""",constitutional anemia due to iron metabolism disorder,[] +"""GARD:0019453""",constitutional sideroblastic anemia,[] +"""GARD:0019454""",rare hemolytic anemia,[] +"""GARD:0019455""",rare constitutional hemolytic anemia due to a red cell membrane anomaly,[] +"""GARD:0019456""",hereditary stomatocytosis,['hereditary stomatocytic disease'] +"""GARD:0019457""",constitutional hemolytic anemia due to acanthocytosis,['constitutional hemolytic anemia due to acanthocytic disorder'] +"""GARD:0019458""",rare constitutional hemolytic anemia due to an enzyme disorder,[] +"""GARD:0019459""",hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies,[] +"""GARD:0019460""",hemolytic anemia due to a disorder of glycolytic enzymes,[] +"""GARD:0019461""",hemolytic anemia due to an erythrocyte nucleotide metabolism disorder,['hemolytic anemia due to an erythroenzymopathy'] +"""GARD:0019462""",constitutional megaloblastic anemia due to vitamin b12 metabolism disorder,[] +"""GARD:0019463""",constitutional megaloblastic anemia due to folate metabolism disorder,[] +"""GARD:0019464""",vitamin b12- and folate-independent constitutional megaloblastic anemia,[] +"""GARD:0019465""",primary acquired red cell aplasia,['primary autoimmune red cell aplasia'] +"""GARD:0019466""",polycythemia,[] +"""GARD:0019467""",secondary polycythemia,['secondary erythrocytosis'] +"""GARD:0019468""",rare coagulation disorder,[] +"""GARD:0019469""",alpha granule disease,[] +"""GARD:0019470""",dense granule disease,['delta granule disease'] +"""GARD:0019471""",skeletal muscle disease,[] +"""GARD:0019472""",metabolic myopathy,[] +"""GARD:0019473""",neuromuscular junction disease,[] +"""GARD:0019474""",acquired neuromuscular junction disease,[] +"""GARD:0019475""",genetic neuromuscular junction disease,[] +"""GARD:0019476""",rare peripheral neuropathy,[] +"""GARD:0019477""",motor neuron disease,['anterior horn cell disease'] +"""GARD:0019478""",genetic motor neuron disease,['genetic anterior horn cell disease'] +"""GARD:0019479""",acquired motor neuron disease,['acquired anterior horn cell disease'] +"""GARD:0019480""",malformation of the cerebellar vermis,[] +"""GARD:0019481""",malformation of the cerebellar hemispheres,[] +"""GARD:0019482""",cranial nerve and nuclear aplasia,[] +"""GARD:0019483""",posterior fossa malformation,[] +"""GARD:0019484""",neurodegenerative disease with dementia,[] +"""GARD:0019485""",frontotemporal degeneration with dementia,[] +"""GARD:0019486""",ataxia with dementia,[] +"""GARD:0019487""",early-onset ataxia with dementia,[] +"""GARD:0019488""",late-onset ataxia with dementia,[] +"""GARD:0019489""",infectious disease with dementia,[] +"""GARD:0019490""",metabolic disease with dementia,[] +"""GARD:0019491""",cerebral lipidosis with dementia,[] +"""GARD:0019492""",rare cerebrovascular dementia,[] +"""GARD:0019493""",microphthalmia-anophthalmia-coloboma,['anophthalmia-microphthalmia syndrome'] +"""GARD:0019494""",syndromic aniridia,[] +"""GARD:0019495""",rare palpebral disorder,[] +"""GARD:0019496""",congenital malformation of the eyelid,[] +"""GARD:0019497""",microblepharon-ablephara syndrome,[] +"""GARD:0019498""",eyelid border anomaly,[] +"""GARD:0019499""",syndromic ankyloblepharon filiforme adnatum,['syndromic ankyloblepharon'] +"""GARD:0019500""",syndromic eyelid coloboma,['syndromic palpebral coloboma'] +"""GARD:0019501""",rare eyelid malposition disorder,['eyelids malposition disorder'] +"""GARD:0019502""",congenital ectropion,[] +"""GARD:0019503""",secondary ectropion,[] +"""GARD:0019504""",syndromic epicanthus,[] +"""GARD:0019505""",syndromic telecanthus,[] +"""GARD:0019506""",syndromic outer canthal malposition,['malposition of external canthus'] +"""GARD:0019507""",rare disorder with ptosis,[] +"""GARD:0019508""",rare eyebrow/eyelash disorder,['rare eyebrow/eyelashes anomaly'] +"""GARD:0019509""",rare disorder of the lacrimal apparatus,['rare lacrimal system disease'] +"""GARD:0019510""",congenital alacrima,[] +"""GARD:0019511""",lacrimal drainage system anomaly,['excretory apparatus of the lacrimal system anomaly'] +"""GARD:0019512""",eec syndrome and related disorders,"['eec syndrome and related syndrome', 'ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders']" +"""GARD:0019513""",rare disorder with conjunctival involvement as a major feature,[] +"""GARD:0019514""",rare refraction anomaly,[] +"""GARD:0019515""",rare hyperopia and astigmatism,[] +"""GARD:0019516""",syndromic hyperopia,[] +"""GARD:0019517""",syndromic keratoconus,[] +"""GARD:0019518""",superficial corneal dystrophy,['anterior corneal dystrophy'] +"""GARD:0019519""",stromal corneal dystrophy,[] +"""GARD:0019520""",posterior corneal dystrophy,[] +"""GARD:0019521""",syndromic corneal dystrophy,[] +"""GARD:0019522""",congenital malformation of the eye with glaucoma as a major feature,[] +"""GARD:0019523""",corneodysgenesis,['corneogoniodysgenesis'] +"""GARD:0019524""",rare disease with glaucoma as a major feature,[] +"""GARD:0019525""",rare lens disease,[] +"""GARD:0019526""",rare disorder with lens opacification,['rare cataract'] +"""GARD:0019527""",syndromic cataract,[] +"""GARD:0019528""",chromosomal anomaly with cataract,[] +"""GARD:0019529""",metabolic disease with cataract,[] +"""GARD:0019530""",renal disease with cataract,[] +"""GARD:0019531""",musculoskeletal disease with cataract,[] +"""GARD:0019532""",dentocutaneous disease with cataract,[] +"""GARD:0019533""",craniofacial anomaly with cataract,[] +"""GARD:0019534""",lens size anomaly,[] +"""GARD:0019535""",lens position anomaly,[] +"""GARD:0019536""",lens shape anomaly,[] +"""GARD:0019537""",color-vision disease,[] +"""GARD:0019538""",syndromic rod-cone dystrophy,['syndromic retinitis pigmentosa'] +"""GARD:0019539""",vitreoretinopathy,[] +"""GARD:0019540""",hereditary optic neuropathy,[] +"""GARD:0019541""",rare disorder with strabismus,[] +"""GARD:0019542""",syndromic disorder with strabismus,['syndrome with a symptomatic strabismus'] +"""GARD:0019543""",craniostenosis with strabismus,[] +"""GARD:0019544""",rare oculomotor nerve disorder,[] +"""GARD:0019545""",congenital trochlear nerve palsy,"['congenital cniv palsy', 'congenital fourth cranial nerve palsy', 'congenital superior oblique palsy']" +"""GARD:0019546""",supranuclear eye movement disorder,[] +"""GARD:0019547""",oculomotor apraxia,[] +"""GARD:0019548""",oculocutaneous or ocular albinism,[] +"""GARD:0019549""",uveitis,[] +"""GARD:0019550""",heart position anomaly,[] +"""GARD:0019551""",transposition of the great arteries and conotruncal cardiac anomaly,[] +"""GARD:0019552""",aortic malformation,[] +"""GARD:0019553""",pulmonary artery or pulmonary branch anomaly,[] +"""GARD:0019554""",atrioventricular valve anomaly,[] +"""GARD:0019555""",congenital tricuspid malformation,[] +"""GARD:0019556""",congenital anomaly of the great arteries,['congenital aorta; aortic arch or pulmonary arteries anomaly'] +"""GARD:0019557""",ascending aorta anomaly,[] +"""GARD:0019558""",rare atrial defect and interatrial communication,['atrial defect and interauricular communication'] +"""GARD:0019559""",congenital pulmonary veins anomaly,[] +"""GARD:0019560""",congenital arteriovenous fistula,[] +"""GARD:0019561""",noonan syndrome and noonan-related syndrome,[] +"""GARD:0019562""",genetic neurological muscular channelopathy,[] +"""GARD:0019563""",neurological muscular channelopathy due to a genetic sodium channel defect,[] +"""GARD:0019564""",neurological muscular channelopathy due to a genetic chloride channel defect,[] +"""GARD:0019565""",neurological muscular channelopathy due to a genetic calcium channel defect,[] +"""GARD:0019566""",neurological muscular channelopathy due to a genetic potassium channel defect,[] +"""GARD:0019567""",neurological muscular channelopathy due to a genetic ryanodine receptor defect,[] +"""GARD:0019568""",genetic neurological channelopathy of the central nervous system,[] +"""GARD:0019569""",neurological channelopathy of the central nervous system due to a genetic sodium channel defect,[] +"""GARD:0019570""",neurological channelopathy of the central nervous system due to a genetic calcium channel defect,[] +"""GARD:0019571""",neurological channelopathy of the central nervous system due to a genetic potassium channel defect,[] +"""GARD:0019572""",neurological channelopathy of the central nervous system due to a genetic glycine receptor defect,[] +"""GARD:0019573""",neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect,[] +"""GARD:0019574""",neurological channelopathy of the central nervous system due to a genetic gaba receptor defect,[] +"""GARD:0019575""",autoimmune neurological channelopathy,[] +"""GARD:0019576""",prader-willi syndrome due to paternal 15q11q13 deletion,[] +"""GARD:0019577""",angelman syndrome due to maternal 15q11q13 deletion,['angelman syndrome due to maternal monosomy 15q11q13'] +"""GARD:0019578""",angelman syndrome due to paternal uniparental disomy of chromosome 15,['upd(15)pat'] +"""GARD:0019579""",isochromosomy yp,[] +"""GARD:0019580""",isochromosomy yq,[] +"""GARD:0019581""","benign childhood occipital epilepsy, panayiotopoulos type","['early-onset benign childhood occipital epilepsy', 'panayiotopoulos syndrome']" +"""GARD:0019582""","benign childhood occipital epilepsy, gastaut type",['late-onset benign childhood occipital epilepsy'] +"""GARD:0019583""",atypical chronic myeloid leukemia,['subacute myeloid leukemia'] +"""GARD:0019584""",unclassified myelodysplastic/myeloproliferative disease,['unclassified mixed myelodysplastic/myeloproliferatic syndrome'] +"""GARD:0019585""",refractory anemia,[] +"""GARD:0019586""",unclassified myelodysplastic syndrome,[] +"""GARD:0019587""",acute myeloid leukemia with 11q23 abnormalities,['aml with 11q23 abnormalities'] +"""GARD:0019588""",acute myeloid leukemia with minimal differentiation,"['aml m0', 'minimally differentiated acute myeloblastic leukemia']" +"""GARD:0019589""",primary mediastinal large b-cell lymphoma,"['large cell lymphoma of the mediastinum', 'med-dlbcl', 'mediastinal diffuse large-cell lymphoma with sclerosis', 'primary mediastinal clear cell lymphoma of b-cell type']" +"""GARD:0019590""",intravascular large b-cell lymphoma,"['angioendotheliomatosis proliferans systemisata', 'angiotropic large cell lymphoma', 'intravascular lymphomatosis', 'malignant angioendotheliomatosis', 'tappeiner-pfleger disease']" +"""GARD:0019591""","classic hodgkin lymphoma, nodular sclerosis type",[] +"""GARD:0019592""","classic hodgkin lymphoma, mixed cellularity type",[] +"""GARD:0019593""","classic hodgkin lymphoma, lymphocyte-rich type",[] +"""GARD:0019594""","classic hodgkin lymphoma, lymphocyte-depleted type",[] +"""GARD:0019595""",indolent systemic mastocytosis,[] +"""GARD:0019596""",systemic mastocytosis with associated hematologic neoplasm,"['sm-ahn', 'sm-ahnmd', 'systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease']" +"""GARD:0019597""",aggressive systemic mastocytosis,[] +"""GARD:0019598""",mast cell leukemia,[] +"""GARD:0019599""",x-linked complex spastic paraplegia,"['complex x-linked hsp', 'complex x-linked spg', 'complicated x-linked hsp', 'complicated x-linked spg', 'x-linked complicated spastic paraplegia']" +"""GARD:0019600""",alpha-crystallinopathy,['cryab-related myofobrillar myopathy'] +"""GARD:0019601""",acute motor and sensory axonal neuropathy,"['amsan', 'acute motor-sensory axonal gbs', 'acute motor-sensory axonal guillain-barré syndrome']" +"""GARD:0019602""",acute motor axonal neuropathy,"['aman', 'acute pure motor gbs', 'acute pure motor guillain-barré syndrome']" +"""GARD:0019603""",blake pouch cyst,[] +"""GARD:0019604""","multiple system atrophy, parkinsonian type","['msa; parkinsonian type', 'msa-p']" +"""GARD:0019605""",coloboma of eyelid,[] +"""GARD:0019606""",congenital symblepharon,[] +"""GARD:0019607""",partial cryptophthalmia,[] +"""GARD:0019608""",inverse marcus-gunn phenomenon,[] +"""GARD:0019609""",climatic droplet keratopathy,['honey-droplet corneal dystrophy'] +"""GARD:0019610""",congenital hereditary endothelial dystrophy type i,"['autosomal dominant ched', 'autosomal dominant congenital hereditary endothelial dystrophy', 'ched1', 'chedi', 'congenital hereditary endothelial dystrophy type 1']" +"""GARD:0019611""",essential iris atrophy,[] +"""GARD:0019612""",multifocal pattern dystrophy simulating fundus flavimaculatus,['multifocal pattern dystrophy simulating stargardt disease'] +"""GARD:0019613""",fundus pulverulentus,[] +"""GARD:0019614""",congenitally uncorrected transposition of the great arteries with coarctation,"['congenitally uncorrected transposition of the great vessels with coarctation', 'tga with coarctation']" +"""GARD:0019615""",double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis,"['dorv with subaortic or doubly committed vsd with pulmonary stenosis', 'dorv; fallot type', 'double outlet right ventricle; fallot type']" +"""GARD:0019616""",double outlet right ventricle with subpulmonary ventricular septal defect,"['dorv with subpulmonary vsd', 'dorv-tga', 'double outlet right ventricle with transposition of the great arteries', 'taussig-bing syndrome']" +"""GARD:0019617""",double outlet right ventricle with non-committed subpulmonary ventricular septal defect,['dorv with non-committed subpulmonary vsd'] +"""GARD:0019618""",pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome,['apv/pda; non-fallot type'] +"""GARD:0019619""",pulmonary artery coming from patent ductus arteriosus,[] +"""GARD:0019620""",discrete fibromuscular subaortic stenosis,[] +"""GARD:0019621""",tunnel subaortic stenosis,[] +"""GARD:0019622""",valvular pulmonary stenosis,[] +"""GARD:0019623""",congenital anomaly of the tricuspid valve chordae,"['congenital anomaly of tricuspid chordae tendineae', 'congenital anomaly of tricuspid tendinous chords']" +"""GARD:0019624""",parachute tricuspid valve,[] +"""GARD:0019625""",hypoplasia of the mitral valve annulus,[] +"""GARD:0019626""",congenital supravalvular mitral ring,[] +"""GARD:0019627""",congenital unguarded mitral orifice,[] +"""GARD:0019628""",accessory mitral valve tissue,[] +"""GARD:0019629""",mitral valve agenesis,[] +"""GARD:0019630""",shone complex,[] +"""GARD:0019631""",straddling and/or overriding mitral valve,[] +"""GARD:0019632""",aorto-right ventricular tunnel,[] +"""GARD:0019633""",aorto-left ventricular tunnel,[] +"""GARD:0019634""",congenital patent ductus arteriosus aneurysm,[] +"""GARD:0019635""",encircling double aortic arch,[] +"""GARD:0019636""",persistent fifth aortic arch,[] +"""GARD:0019637""",kommerell diverticulum,[] +"""GARD:0019638""",neuhauser anomaly,[] +"""GARD:0019639""",cervical aortic arch,[] +"""GARD:0019640""",right aortic arch,[] +"""GARD:0019641""",dysphagia lusoria,[] +"""GARD:0019642""",pulmonary artery hypoplasia,"['pah', 'unilateral pulmonary artery hypoplasia']" +"""GARD:0019643""",coronary ostial stenosis or atresia,"['cosa', 'congenital coronary arterial orifice stenosis or atresia', 'congenital stenosis or atresia of a coronary ostium']" +"""GARD:0019644""",abnormal number of coronary ostia,[] +"""GARD:0019645""",malposition of a coronary ostium,[] +"""GARD:0019646""",laubry-pezzi syndrome,"['vsd with aortic insufficiency', 'ventricular septal defect with aortic insufficiency']" +"""GARD:0019647""",congenital gerbode defect,['left ventricular-to-right atrial communication'] +"""GARD:0019648""",juxtaposition of the atrial appendages,['juxtaposition of the atrial auricles'] +"""GARD:0019649""",ectasia of the right atrial appendage,"['dilatation of the right atrial appendage', 'dilatation of the right atrial auricle', 'ectasia of the right atrial auricle']" +"""GARD:0019650""",ectasia of the left atrial appendage,"['dilatation of the left atrial appendage', 'dilatation of the left auricle', 'ectasia of the left auricle']" +"""GARD:0019651""",atrial septal aneurysm,[] +"""GARD:0019652""",persistent left superior vena cava connecting through coronary sinus to left-sided atrium,['persistent left svc connecting through coronary sinus to left-sided atrium'] +"""GARD:0019653""",right superior vena cava connecting to left-sided atrium,"['right svc connecting to left-sided atrium', 'right superior caval vein connecting to left-sided atrium']" +"""GARD:0019654""",persistent left superior vena cava connecting to the roof of left-sided atrium,"['persistent left svc connecting to left-sided atrium', 'persistent left svc connecting to the roof of left-sided atrium', 'persistent left superior vena cava connecting to left-sided atrium']" +"""GARD:0019655""",absence of innominate vein,['absence of brachiocephalic vein'] +"""GARD:0019656""",subaortic course of innominate vein,['subaortic course of brachiocephalic vein'] +"""GARD:0019657""",agenesis of the superior vena cava,"['absence of the svc', 'absence of the superior caval vein', 'absence of the superior vena cava', 'agenesis of the svc', 'agenesis of the superior caval vein']" +"""GARD:0019658""",coronary sinus stenosis,[] +"""GARD:0019659""",coronary sinus atresia,[] +"""GARD:0019660""",right inferior vena cava connecting to left-sided atrium,"['right ivc connecting to left-sided atrium', 'right inferior caval vein connecting to left-sided atrium']" +"""GARD:0019661""",persistent eustachian valve,[] +"""GARD:0019662""",azygos continuation of the inferior vena cava,"['azygos continuation of the ivc', 'azygos continuation of the inferior caval vein', 'inferior vena cava interruption with azygos continuation']" +"""GARD:0019663""",congenital stenosis of the inferior vena cava,"['congenital stenosis of the ivc', 'congenital stenosis of the inferior caval vein']" +"""GARD:0019664""",inferior vena cava interruption without azygos continuation,"['ivc interruption', 'inferior caval vein interruption']" +"""GARD:0019665""",congenital partial pulmonary venous return anomaly,[] +"""GARD:0019666""",congenital complete agenesis of pericardium,[] +"""GARD:0019667""",congenital partial agenesis of pericardium,[] +"""GARD:0019668""",pleuro-pericardial cyst,[] +"""GARD:0019669""",hemolytic anemia due to erythrocyte adenosine deaminase overproduction,[] +"""GARD:0019670""",unstable hemoglobin disease,[] +"""GARD:0019671""",epiblepharon,[] +"""GARD:0019672""",tarsal kink syndrome,[] +"""GARD:0019673""",isolated congenital ectropion,[] +"""GARD:0019674""",euryblepharon,[] +"""GARD:0019675""",congenital eyelid retraction,[] +"""GARD:0019676""",monosomy x,[] +"""GARD:0019677""",mosaic monosomy x,[] +"""GARD:0019678""",paternal uniparental disomy of chromosome 13,['upd(13)pat'] +"""GARD:0019679""","49,xyyyy syndrome",[] +"""GARD:0019680""",pituitary adenoma,[] +"""GARD:0019681""",turner syndrome due to structural x chromosome anomalies,[] +"""GARD:0019682""",cheirospondyloenchondromatosis,['generalized enchondromatosis with platyspondyly'] +"""GARD:0019683""",dermotrichic syndrome,[] +"""GARD:0019684""",mesial temporal lobe epilepsy with hippocampal sclerosis,"['hs-mtle', 'hippocampal sclerosis-related mesial temporal lobe epilepsy', 'mtle-hs']" +"""GARD:0019685""",early-onset obesity-hyperphagia-severe developmental delay syndrome,['obhd'] +"""GARD:0019686""",rare familial disorder with hypertrophic cardiomyopathy,"['rare familial disorder with hypertrophic obstructive cardiomyopathy', 'rare familial disorder with hypertrophic subaortic stenosis']" +"""GARD:0019687""",bifid uvula,"['bifidity of the uvula', 'uvular cleft']" +"""GARD:0019688""",lassa fever,"['lf', 'lassa hemorrhagic fever']" +"""GARD:0019689""",nipah virus disease,"['nipah encephalitis', 'nipah fever']" +"""GARD:0019690""",crimean-congo hemorrhagic fever,"['cchf', 'congo fever', 'congo hemorrhagic fever', 'crimean hemorrhagic fever']" +"""GARD:0019691""",primary syringomyelia,['congenital syringomyelia'] +"""GARD:0019692""",secondary syringomyelia,[] +"""GARD:0019693""",idiopathic syringomyelia,[] +"""GARD:0019694""",precursor t-cell acute lymphoblastic leukemia,"['precursor t-cell acute lymphoblastic leukemia/lymphoma', 'precursor t-cell acute lymphocytic leukemia', 'precursor t-cell acute lymphocytic leukemia/lymphoma', 't-all']" +"""GARD:0019695""",thymic carcinoma,['malignant thymoma'] +"""GARD:0019696""",thymic neuroendocrine carcinoma,[] +"""GARD:0019697""",acute megakaryoblastic leukemia in down syndrome,['ds-amkl'] +"""GARD:0019698""",cushing syndrome due to ectopic acth secretion,"['adrenocorticotropic hormone secretion syndrome', 'ectopic acth secreting tumor', 'ectopic cushing syndrome', 'occult ectopic acth secretion', 'paraneoplastic cushing syndrome']" +"""GARD:0019699""",acth-dependent cushing syndrome,"['acth-dependent cs', 'adrenocorticotropic hormone-dependent cushing syndrome', 'corticotropin-dependent cushing syndrome']" +"""GARD:0019700""",acth-independent cushing syndrome,"['adrenal cushing syndrome', 'adrenocorticotropic hormone-independent cushing syndrome', 'corticotropin-independent cushing syndrome']" +"""GARD:0019701""",spirillary rat-bite fever,['sodoku'] +"""GARD:0019702""",streptobacillary rat-bite fever,[] +"""GARD:0019703""",house allergic alveolitis,[] +"""GARD:0019704""",occupational allergic alveolitis,[] +"""GARD:0019705""",malignant dysgerminomatous germ cell tumor of the ovary,"['dysgerminomatous germ cell cancer of the ovary', 'malignant ovarian dysgerminoma']" +"""GARD:0019706""",extragonadal non-dysgerminomatous germ cell tumor,[] +"""GARD:0019707""",maligant granulosa cell tumor of the ovary,"['granulosa cell cancer', 'granulosa cell malignant tumor']" +"""GARD:0019708""","theca steroid-producing cell malignant tumor of ovary, not further specified",['theca (steroid-producing) cell cancer; not further specified'] +"""GARD:0019709""",streptococcal toxic-shock syndrome,['streptococcal tss'] +"""GARD:0019710""",staphylococcal toxic-shock syndrome,['staphylococcal tss'] +"""GARD:0019711""",invasive mole,[] +"""GARD:0019712""",gestational choriocarcinoma,[] +"""GARD:0019713""",secondary pulmonary hemosiderosis,[] +"""GARD:0019714""",heiner syndrome,"[""cow's milk hypersensitivity""]" +"""GARD:0019715""",pleuropulmonary blastoma type 1,[] +"""GARD:0019716""",pleuropulmonary blastoma type 2,[] +"""GARD:0019717""",pleuropulmonary blastoma type 3,[] +"""GARD:0019718""",o'sullivan-mcleod syndrome,[] +"""GARD:0019719""",pleomorphic liposarcoma,['pls'] +"""GARD:0019720""",dedifferentiated liposarcoma,['ddls'] +"""GARD:0019721""",well-differentiated liposarcoma,"['alt', 'atypical lipoma', 'atypical lipomatous tumor', 'wdls']" +"""GARD:0019722""",apnea of prematurity,[] +"""GARD:0019723""",cutaneous myiasis,[] +"""GARD:0019724""",intermediate dend syndrome,['developmental delay-epilepsy-neonatal diabetes syndrome; intermediate form'] +"""GARD:0019725""",brill-zinsser disease,"['brill disease', 'recrudescent typhus']" +"""GARD:0019726""",relapsing epidemic typhus,[] +"""GARD:0019727""",complex regional pain syndrome type 2,['causalgia'] +"""GARD:0019728""",reticular perineurioma,[] +"""GARD:0019729""",sclerosing perineurioma,[] +"""GARD:0019730""",extraneural perineurioma,['soft tissue perineurioma'] +"""GARD:0019731""",lissencephaly with cerebellar hypoplasia type a,[] +"""GARD:0019732""",lissencephaly with cerebellar hypoplasia type b,[] +"""GARD:0019733""",lissencephaly with cerebellar hypoplasia type c,[] +"""GARD:0019734""",lissencephaly with cerebellar hypoplasia type d,[] +"""GARD:0019735""",lissencephaly with cerebellar hypoplasia type e,[] +"""GARD:0019736""",lissencephaly with cerebellar hypoplasia type f,[] +"""GARD:0019737""",refractory anemia with excess blasts type 1,['raeb-1'] +"""GARD:0019738""",refractory anemia with excess blasts type 2,['raeb-2'] +"""GARD:0019739""",primary plasmacytoma of the bone,[] +"""GARD:0019740""",extramedullary soft tissue plasmacytoma,[] +"""GARD:0019741""",mu-heavy chain disease,['mu-hcd'] +"""GARD:0019742""",alpha-heavy chain disease,"['alpha-hcd', 'ipsid', 'immunoproliferative small intestinal disease', 'mediterranean lymphoma']" +"""GARD:0019743""",solitary necrotic nodule of the liver,['hepatic solitary necrotic nodule'] +"""GARD:0019744""",esophageal duplication cyst,[] +"""GARD:0019745""",tubular duplication of the esophagus,[] +"""GARD:0019746""",primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies,['primary ild specific to childhood due to pulmonary surfactant protein anomalies'] +"""GARD:0019747""",acquired angioedema type 2,"['aae 2', 'aae ii', 'acquired angioneurotic edema type 2']" +"""GARD:0019748""",acquired angioedema type 1,['acquired angioneurotic edema type 1'] +"""GARD:0019749""",neurogenic thoracic outlet syndrome,"['ntos', 'neurogenic tos', 'neurogenic cervical rib syndrome', 'neurogenic costoclavicular syndrome', 'neurogenic thoracic outlet compression syndrome']" +"""GARD:0019750""",neuroendocrine tumor of stomach,"['gnet', 'gastric net', 'gastric neuroendocrine tumor', 'net of stomach']" +"""GARD:0019751""",duodenal neuroendocrine tumor,[] +"""GARD:0019752""",jejunal neuroendocrine tumor,['jejunal neuroendocrine neoplasm'] +"""GARD:0019753""",ileal neuroendocrine tumor,['ileal neuroendocrine neoplasm'] +"""GARD:0019754""",neuroendocrine neoplasm of appendix,"['appendiceal nen', 'appendiceal neuroendocrine neoplasm', 'nen of appendix']" +"""GARD:0019755""",neuroendocrine tumor of the colon,"['colonic net', 'net of the colon', 'neuroendocrine neoplasm of the colon']" +"""GARD:0019756""",neuroendocrine tumor of the rectum,"['net of the rectum', 'rectal net', 'rectal neuroendocrine tumor']" +"""GARD:0019757""",neuroendocrine tumor of anal canal,['net of anal canal'] +"""GARD:0019758""",laryngeal neuroendocrine tumor,[] +"""GARD:0019759""",middle ear neuroendocrine tumor,[] +"""GARD:0019760""",primary hepatic neuroendocrine carcinoma,[] +"""GARD:0019761""",gallbladder neuroendocrine tumor,[] +"""GARD:0019762""",thyroid tumor,[] +"""GARD:0019763""",thyroid carcinoma,[] +"""GARD:0019764""",rare parathyroid tumor,[] +"""GARD:0019765""",adrenal/paraganglial tumor,[] +"""GARD:0019766""",multiple polyglandular tumor,[] +"""GARD:0019767""",thymic tumor,[] +"""GARD:0019768""",neuroendocrine tumor with other location,[] +"""GARD:0019769""",fraxf syndrome,[] +"""GARD:0019770""",autosomal dominant complex spastic paraplegia,"['autosomal dominant complex hsp', 'autosomal dominant complex spg', 'autosomal dominant complicated hsp', 'autosomal dominant complicated spg', 'autosomal dominant complicated spastic paraplegia']" +"""GARD:0019771""",autosomal dominant pure spastic paraplegia,"['autosomal dominant pure hsp', 'autosomal dominant pure spg', 'autosomal dominant uncomplicated hsp', 'autosomal dominant uncomplicated spg', 'autosomal dominant uncomplicated spastic paraplegia']" +"""GARD:0019772""",autosomal recessive complex spastic paraplegia,"['autosomal recessive complex hsp', 'autosomal recessive complex spg', 'autosomal recessive complicated hsp', 'autosomal recessive complicated spg', 'autosomal recessive complicated spastic paraplegia']" +"""GARD:0019773""",autosomal recessive pure spastic paraplegia,"['autosomal recessive pure hsp', 'autosomal recessive pure spg', 'autosomal recessive uncomplicated hsp', 'autosomal recessive uncomplicated spg', 'autosomal recessive uncomplicated spastic paraplegia']" +"""GARD:0019774""",cleft hard palate,[] +"""GARD:0019775""",sub-cortical nodular heterotopia,[] +"""GARD:0019776""",congenital aortic valve dysplasia,[] +"""GARD:0019777""",unilateral hemispheric polymicrogyria,[] +"""GARD:0019778""",aregenerative anemia,[] +"""GARD:0019779""",marin-amat syndrome,[] +"""GARD:0019780""",pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome,"['apv/ada; fallot type', 'absence of pulmonary valve-fallot tetralogy-absence of ductus arteriosus syndrome', 'pva/ada; fallot type']" +"""GARD:0019781""",african tick typhus,[] +"""GARD:0019782""",rare genetic eye disease,['rare genetic ophthalmologic disease'] +"""GARD:0019783""",rare non-syndromic intellectual disability,['rare nsid'] +"""GARD:0019784""",anomaly of the mitral subvalvular apparatus,[] +"""GARD:0019785""",genetic cardiac rhythm disease,[] +"""GARD:0019786""",rare gastroesophageal disease,[] +"""GARD:0019787""",rare pancreatic disease,[] +"""GARD:0019788""",rare vascular liver disease,[] +"""GARD:0019789""",rare parenchymal liver disease,[] +"""GARD:0019790""",rare metabolic liver disease,[] +"""GARD:0019791""",rare biliary tract disease,[] +"""GARD:0019792""",rare hepatic and biliary tract tumor,[] +"""GARD:0019793""",rare pulmonary disease,[] +"""GARD:0019794""",rare bronchopulmonary tumor,[] +"""GARD:0019795""",rare eye tumor,[] +"""GARD:0019796""",rare diabetes mellitus,[] +"""GARD:0019797""",rare dyslipidemia,[] +"""GARD:0019798""",rare adrenal disease,[] +"""GARD:0019799""",rare thyroid disease,[] +"""GARD:0019800""",polyendocrinopathy,[] +"""GARD:0019801""",pituitary deficiency,[] +"""GARD:0019802""",primary adrenal insufficiency,[] +"""GARD:0019803""",chronic primary adrenal insufficiency,"['cpai', 'chronic adrenocorticoid insufficiency']" +"""GARD:0019804""",genetic chronic primary adrenal insufficiency,[] +"""GARD:0019805""",acquired chronic primary adrenal insufficiency,[] +"""GARD:0019806""",combined t and b cell immunodeficiency,[] +"""GARD:0019807""",immunodeficiency predominantly affecting antibody production,[] +"""GARD:0019808""",quantitative and/or qualitative congenital phagocyte defect,[] +"""GARD:0019809""",constitutional neutropenia,[] +"""GARD:0019810""",primary immunodeficiency due to a defect in innate immunity,[] +"""GARD:0019811""",immunodeficiency due to a complement cascade protein anomaly,[] +"""GARD:0019812""",periodic fever syndrome,[] +"""GARD:0019813""",primary immunodeficiency,[] +"""GARD:0019814""",rare epilepsy,[] +"""GARD:0019815""",medullar disease,[] +"""GARD:0019816""",rare ataxia,[] +"""GARD:0019817""",rare movement disorder,[] +"""GARD:0019818""",brain inflammatory disease,[] +"""GARD:0019819""",neurovascular malformation,[] +"""GARD:0019820""",other syndrome with lissencephaly as a major feature,[] +"""GARD:0019821""",lissencephaly type 3,[] +"""GARD:0019822""",pure hereditary spastic paraplegia,"['pure hsp', 'pure spg', 'pure familial spastic paraplegia', 'uncomplicated hsp', 'uncomplicated spg', 'uncomplicated familial spastic paraplegia', 'uncomplicated hereditary spastic paraplegia']" +"""GARD:0019823""",complex hereditary spastic paraplegia,"['complex hsp', 'complex spg', 'complex familial spastic paraplegia', 'complicated hsp', 'complicated spg', 'complicated familial spastic paraplegia', 'complicated hereditary spastic paraplegia']" +"""GARD:0019824""",autosomal dominant limb-girdle muscular dystrophy,[] +"""GARD:0019825""",autosomal recessive limb-girdle muscular dystrophy,[] +"""GARD:0019826""",autosomal monosomy,['autosomal deletion'] +"""GARD:0019827""",rickettsial disease,['rickettsiae disease'] +"""GARD:0019828""",spotted fever rickettsiosis,['spotted fever rickettsiae disease'] +"""GARD:0019829""",typhus-group rickettsiosis,['typhus-group rickettsiae disease'] +"""GARD:0019830""",human herpesvirus 8-related disorder,['hhv-8-related disorder'] +"""GARD:0019831""",unexplained periodic fever syndrome,[] +"""GARD:0019832""",multiple congenital anomalies/dysmorphic syndrome-intellectual disability,"['mca/mr', 'multiple congenital anomalies-intellectual disability with or without dysmorphism']" +"""GARD:0019833""",multiple congenital anomalies/dysmorphic syndrome without intellectual disability,"['mca without intellectual disability', 'multiple congenital anomalies without intellectual disability with or without dysmorphism']" +"""GARD:0019834""",rare syndromic intellectual disability,[] +"""GARD:0019835""",acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent,['aml and myelodysplastic syndromes related to alkylating agent'] +"""GARD:0019836""",acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor,['aml and myelodysplastic syndromes related to topoisomerase type 2 inhibitor'] +"""GARD:0019837""",acute myeloid leukemia with t(8;21)(q22;q22) translocation,['aml with t(8;21)(q22;q22) translocation'] +"""GARD:0019838""",chronic diarrhea due to glucoamylase deficiency,['maltase-glucoamylase deficiency'] +"""GARD:0019839""",congenital enterocyte heparan sulfate deficiency,[] +"""GARD:0019840""",undetermined colitis,[] +"""GARD:0019841""",congenital intestinal transport defect,[] +"""GARD:0019842""",intestinal disease due to vitamin absorption anomaly,[] +"""GARD:0019843""",intestinal disease due to fat malabsorption,[] +"""GARD:0019844""",congenital intestinal disease due to an enzymatic defect,[] +"""GARD:0019845""",congenital enteropathy involving intestinal mucosa development,[] +"""GARD:0019846""",rare disease involving intestinal motility,[] +"""GARD:0019847""",intestinal polyposis syndrome,[] +"""GARD:0019848""",rare tumor of intestine,"['rare intestinal tumor', 'rare tumor of bowel']" +"""GARD:0019849""",rare inflammatory bowel disease,[] +"""GARD:0019850""",metabolic disease with intestinal involvement,[] +"""GARD:0019851""",adenocarcinoma of the small intestine,['adenocarcinoma of the small bowel'] +"""GARD:0019852""",leiomyosarcoma of small intestine,[] +"""GARD:0019853""",myopathic intestinal pseudoobstruction,[] +"""GARD:0019854""",unclassified intestinal pseudoobstruction,[] +"""GARD:0019855""",non-syndromic esophageal malformation,[] +"""GARD:0019856""",syndromic esophageal malformation,[] +"""GARD:0019857""",non-syndromic gastroduodenal malformation,[] +"""GARD:0019858""",syndromic gastroduodenal malformation,[] +"""GARD:0019859""",non-syndromic intestinal malformation,[] +"""GARD:0019860""",syndromic intestinal malformation,[] +"""GARD:0019861""",non-syndromic visceral malformation,[] +"""GARD:0019862""",syndromic visceral malformation,[] +"""GARD:0019863""",non-syndromic diaphragmatic or abdominal wall malformation,[] +"""GARD:0019864""",syndromic diaphragmatic or abdominal wall malformation,[] +"""GARD:0019865""",non-syndromic central nervous system malformation,[] +"""GARD:0019866""",syndrome with a central nervous system malformation as a major feature,[] +"""GARD:0019867""",non-syndromic respiratory or mediastinal malformation,[] +"""GARD:0019868""",syndromic respiratory or mediastinal malformation,[] +"""GARD:0019869""",rare anemia,[] +"""GARD:0019870""",arthrogryposis syndrome,[] +"""GARD:0019871""",syndrome with limb malformations as a major feature,[] +"""GARD:0019872""",non-syndromic limb malformation,[] +"""GARD:0019873""",rare intestinal disease,[] +"""GARD:0019874""",syndromic anorectal malformation,[] +"""GARD:0019875""",neonatal hypoxic and ischemic brain injury,"['hie', 'hypoxic and ischemic brain injury in the newborn', 'hypoxic-ischemic encephalopathy', 'perinatal asphyxia', 'perinatal hypoxia']" +"""GARD:0019876""",vulvar intraepithelial neoplasia,"['vin', 'vulvar intraepithelial tumor']" +"""GARD:0019877""",infectious epithelial keratitis,[] +"""GARD:0019878""",neurotrophic keratopathy,['neurotrophic keratitis'] +"""GARD:0019879""",herpes simplex virus stromal keratitis,[] +"""GARD:0019880""",corneal endotheliitis,[] +"""GARD:0019881""",segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,['solamen syndrome'] +"""GARD:0019882""",intractable diarrhea-choanal atresia-eye anomalies syndrome,[] +"""GARD:0019883""",cardiac anomalies-heterotaxy syndrome,[] +"""GARD:0019884""",cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk,['cmv disease in patients with impaired cell mediated immunity deemed at risk'] +"""GARD:0019885""",macular amyloidosis,[] +"""GARD:0019886""",extrapelvic endometriosis,['endometriosis outside pelvis'] +"""GARD:0019887""",madras motor neuron disease,['mmnd'] +"""GARD:0019888""",syndromic optic nerve hypoplasia,[] +"""GARD:0019889""","choanal atresia, unilateral",[] +"""GARD:0019890""","choanal atresia, bilateral",[] +"""GARD:0019891""",primary laryngeal lymphangioma,[] +"""GARD:0019892""",neonatal brainstem dysfunction,[] +"""GARD:0019893""",laryngotracheal angioma,[] +"""GARD:0019894""",pierre robin syndrome associated with collagen disease,['pierre robin sequence associated with collagen disease'] +"""GARD:0019895""",rare disease with pierre robin syndrome,[] +"""GARD:0019896""",pierre robin syndrome associated with a chromosomal anomaly,['pierre robin sequence associated with a chromosomal anomaly'] +"""GARD:0019897""",pierre robin syndrome associated with branchial archs anomalies,['pierre robin sequence associated with branchial archs anomalies'] +"""GARD:0019898""",pierre robin syndrome associated with bone disease,['pierre robin sequence associated with bone disease'] +"""GARD:0019899""",teratogenic pierre robin syndrome,['teratogenic pierre robin sequence'] +"""GARD:0019900""",developmental anomaly of metabolic origin,[] +"""GARD:0019901""",rare bone development disorder,['rare skeletal development disorder'] +"""GARD:0019902""",malformation syndrome with short stature,[] +"""GARD:0019903""",overgrowth/obesity syndrome,[] +"""GARD:0019904""",rare developmental defect with skin/mucosae involvement,[] +"""GARD:0019905""",rare developmental defect with connective tissue involvement,[] +"""GARD:0019906""",progeroid syndrome,[] +"""GARD:0019907""",branchial arch or oral-acral syndrome,[] +"""GARD:0019908""",orofacial clefting syndrome,[] +"""GARD:0019909""",malformation syndrome with odontal and/or periodontal component,[] +"""GARD:0019910""",non-syndromic craniosynostosis,['isolated craniosynostosis'] +"""GARD:0019911""",syndromic craniosynostosis,[] +"""GARD:0019912""",congenital panfollicular nevus,[] +"""GARD:0019913""",acute transverse myelitis,[] +"""GARD:0019914""",idiopathic acute transverse myelitis,[] +"""GARD:0019915""",perioral myoclonia with absences,['poma'] +"""GARD:0019916""",jeavons syndrome,"['emea', 'eyelid myoclonia with and without absences']" +"""GARD:0019917""",leukoencephalopathy with bilateral anterior temporal lobe cysts,[] +"""GARD:0019918""",progressive cavitating leukoencephalopathy,[] +"""GARD:0019919""",neuropathy with hearing impairment,[] +"""GARD:0019920""",hereditary sensory and autonomic neuropathy with deafness and global delay,"['hsan with deafness and global delay', 'hsan with hearing loss and global delay', 'hereditary sensory and autonomic neuropathy with hearing loss and global delay']" +"""GARD:0019921""",inherited cancer-predisposing syndrome,[] +"""GARD:0019922""",secondary hypoparathyroidism due to impaired parathormon secretion,[] +"""GARD:0019923""",autosomal dominant hereditary demyelinating motor and sensory neuropathy,[] +"""GARD:0019924""",autosomal dominant hereditary axonal motor and sensory neuropathy,[] +"""GARD:0019925""",autosomal recessive hereditary demyelinating motor and sensory neuropathy,[] +"""GARD:0019926""",autosomal dominant distal hereditary motor neuropathy,"['autosomal dominant dhmn', 'autosomal dominant distal spinal muscular atrophy']" +"""GARD:0019927""",autosomal recessive distal hereditary motor neuropathy,"['autosomal recessive dhmn', 'autosomal recessive dsma', 'autosomal recessive distal spinal muscular atrophy']" +"""GARD:0019928""",autosomal dominant hereditary sensory and autonomic neuropathy,[] +"""GARD:0019929""",autosomal recessive hereditary sensory and autonomic neuropathy,[] +"""GARD:0019930""",neuro-ophthalmological disease,[] +"""GARD:0019931""",joubert syndrome and related disorders,['jsrd'] +"""GARD:0019932""",linear atrophoderma of moulin,[] +"""GARD:0019933""",low-flow priapism,[] +"""GARD:0019934""",first branchial cleft anomaly,"['first branchial cleft cyst', 'first branchial cleft fistula']" +"""GARD:0019935""",third branchial cleft anomaly,"['third branchial cleft cyst', 'third branchial cleft fistula']" +"""GARD:0019936""",fourth branchial cleft anomaly,"['fourth branchial cleft cyst', 'fourth branchial cleft fistula']" +"""GARD:0019937""",cervical dermoid cyst,['dermoid cyst of the neck'] +"""GARD:0019938""",facial dermoid cyst,['dermoid cyst of the face'] +"""GARD:0019939""",commissural lip fistula,[] +"""GARD:0019940""",lower lip fistula,[] +"""GARD:0019941""",cervicofacial fibrochondroma,[] +"""GARD:0019942""",digestive duplication cyst of the tongue,"['enteric duplication cyst of the tongue', 'foregut duplication cyst of the tongue', 'gastric duplication cyst of the tongue']" +"""GARD:0019943""",epignathus,['oropharyngeal teratoma'] +"""GARD:0019944""",nasolacrimal duct cyst,"['dacryocele', 'dacryocystocele', 'nasolacrimal mucocele']" +"""GARD:0019945""",polyrrhinia,"['double nose', 'polyrhinia']" +"""GARD:0019946""",supernumerary nostril,['accessory nostril'] +"""GARD:0019947""",proboscis lateralis,['congenital tubular nose'] +"""GARD:0019948""",nasopharyngeal teratoma,['teratoma of the nasopharynx'] +"""GARD:0019949""",nasal glial heterotopia,['nasal glioma'] +"""GARD:0019950""",nasal ganglioglioma,[] +"""GARD:0019951""",nasal encephalocele,[] +"""GARD:0019952""",congenital subglottic stenosis,[] +"""GARD:0019953""",congenital laryngeal cyst,[] +"""GARD:0019954""",glossopalatine ankylosis,['cosack syndrome'] +"""GARD:0019955""",frontonasal arteriovenous malformation,[] +"""GARD:0019956""",maxillary arteriovenous malformation,['arteriovenous malformation of maxilla'] +"""GARD:0019957""",mandibular arteriovenous malformation,['arteriovenous malformation of mandible'] +"""GARD:0019958""",rapidly involuting congenital hemangioma,['rich'] +"""GARD:0019959""",cerebrofacial arteriovenous metameric syndrome type 1,['cams1'] +"""GARD:0019960""",cerebrofacial arteriovenous metameric syndrome type 3,['cams3'] +"""GARD:0019961""",diffuse lymphatic malformation,"['diffuse lymphangioma', 'diffuse lymphangiomatosis', 'disseminated lymphangioma', 'disseminated lymphangiomatosis', 'disseminated lymphatic malformation', 'gla', 'generalized lymphatic anomaly']" +"""GARD:0019962""",isolated congenital syngnathia,['isolated congenital maxillomandibular fusion'] +"""GARD:0019963""",nasal dorsum fistula,[] +"""GARD:0019964""",facial cleft,['craniofacial cleft'] +"""GARD:0019965""",median facial cleft,"['midline facial cleft', 'tessier number 0-14 and 30 facial cleft']" +"""GARD:0019966""",median cleft of the upper lip and maxilla,[] +"""GARD:0019967""",oblique facial cleft,['orbitofacial cleft'] +"""GARD:0019968""",tessier number 5 facial cleft,[] +"""GARD:0019969""",tessier number 6 facial cleft,[] +"""GARD:0019970""",lateral facial cleft,[] +"""GARD:0019971""",midline cervical cleft,[] +"""GARD:0019972""",rare head and neck malformation,[] +"""GARD:0019973""",cysts and fistulae of the face and oral cavity,[] +"""GARD:0019974""",pinnae fistula or cyst,[] +"""GARD:0019975""",paramedian facial cleft,['tessier number 1-1 and 2-12 facial cleft'] +"""GARD:0019976""",submucosal cleft palate,[] +"""GARD:0019977""",coloboma of superior eyelid,['superior palpebral coloboma'] +"""GARD:0019978""",coloboma of inferior eyelid,['inferior palpebral coloboma'] +"""GARD:0019979""",otomandibular dysplasia,[] +"""GARD:0019980""",mandibulofacial dysostosis,['bilateral and symmetric oto-mandibular dysplasia'] +"""GARD:0019981""",predominantly large-vessel vasculitis,[] +"""GARD:0019982""",predominantly medium-vessel vasculitis,[] +"""GARD:0019983""",predominantly small-vessel vasculitis,[] +"""GARD:0019984""",immune complex mediated vasculitis,[] +"""GARD:0019985""",isolated dystonia,['pure dystonia'] +"""GARD:0019986""",renal ciliopathy,[] +"""GARD:0019987""",retinal ciliopathy,[] +"""GARD:0019988""",retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene,['retinal ciliopathy due to mutation in rp1 gene'] +"""GARD:0019989""",retinal ciliopathy due to mutation in the rpgr gene,[] +"""GARD:0019990""",retinal ciliopathy due to mutation in the rpgrip gene,[] +"""GARD:0019991""",retinal ciliopathy due to mutation in usher gene,[] +"""GARD:0019992""",retinal ciliopathy due to mutation in nephronophthisis gene,[] +"""GARD:0019993""",retinal ciliopathy due to mutation in bardet-biedl gene,[] +"""GARD:0019994""",otomandibular dysplasia associated with monogenic syndromes,[] +"""GARD:0019995""",hypoglossia/aglossia,[] +"""GARD:0019996""",oromandibular-limb anomalies syndrome,[] +"""GARD:0019997""",paralytic facial malformation,[] +"""GARD:0019998""",syndrome or malformation associated with head and neck malformations,[] +"""GARD:0019999""",pinnae and external auditory canal anomaly,[] +"""GARD:0020000""",nose and cavum anomaly,[] +"""GARD:0020001""",larynx anomaly,[] +"""GARD:0020002""",tracheal anomaly,[] +"""GARD:0020003""",rare syndrome with cardiac malformations,[] +"""GARD:0020004""",rare genetic hepatic disease,[] +"""GARD:0020005""",genetic parenchymatous liver disease,[] +"""GARD:0020006""",genetic biliary tract disease,[] +"""GARD:0020007""",rare genetic respiratory disease,[] +"""GARD:0020008""",rare genetic urogenital disease,[] +"""GARD:0020009""",genetic urogenital tract malformation,[] +"""GARD:0020010""",rare genetic cause of hypertension,[] +"""GARD:0020011""",rare genetic endocrine disease,[] +"""GARD:0020012""",genetic endocrine growth disease,[] +"""GARD:0020013""",situs ambiguus,"['incomplete situs inversus', 'partial situs inversus', 'situs ambiguous']" +"""GARD:0020014""",epithelioid hemangioendothelioma,[] +"""GARD:0020015""",congenital pseudoarthrosis of the limbs,['congenital pseudarthrosis of the limbs'] +"""GARD:0020016""",congenital epulis,"['congenital gingival cell tumor', 'congenital granular cell tumor', 'neumann tumor']" +"""GARD:0020017""",trigeminal autonomic cephalalgia,[] +"""GARD:0020018""",generalized eruptive histiocytosis,['generalized eruptive histiocytoma'] +"""GARD:0020019""",benign cephalic histiocytosis,[] +"""GARD:0020020""",juvenile xanthogranuloma,[] +"""GARD:0020021""",papular xanthoma,[] +"""GARD:0020022""",indeterminate cell histiocytosis,"['indeterminate dendritic cell neoplasm', 'indeterminate dendritic cell tumor']" +"""GARD:0020023""",progressive nodular histiocytosis,[] +"""GARD:0020024""",hemophagocytic syndrome,"['hlh', 'hemophagocytic lymphohistiocytosis']" +"""GARD:0020025""",primary hemophagocytic lymphohistiocytosis,['genetic hemophagocytic lymphohistiocytosis'] +"""GARD:0020026""",secondary hemophagocytic lymphohistiocytosis,"['acquired hemophagocytic lymphohistiocytosis', 'reactive hemophagocytic syndrome']" +"""GARD:0020027""",acquired hemophagocytic lymphohistiocytosis associated with malignant disease,[] +"""GARD:0020028""",genetic dementia,[] +"""GARD:0020029""",huntington disease-like syndrome,['huntington disease phenocopy syndrome'] +"""GARD:0020030""",rare genetic hematologic disease,[] +"""GARD:0020031""","localized dystrophic epidermolysis bullosa, acral form",['localized deb; acral form'] +"""GARD:0020032""","localized dystrophic epidermolysis bullosa, nails only",['localized deb; nails only'] +"""GARD:0020033""",typical urticaria pigmentosa,[] +"""GARD:0020034""",plaque-form urticaria pigmentosa,[] +"""GARD:0020035""",nodular urticaria pigmentosa,[] +"""GARD:0020036""",smoldering systemic mastocytosis,[] +"""GARD:0020037""",isolated bone marrow mastocytosis,[] +"""GARD:0020038""",cap polyposis,"['cap inflammatory polyposis', 'eroded polypoid hyperplasia', 'inflammatory myoglandular polyps', 'polypoid prolapsing folds']" +"""GARD:0020039""",isolated congenital nasal pyriform aperture stenosis,"['isolated apertura pyriformis stenosis', 'isolated nasal pyriform aperture hypoplasia']" +"""GARD:0020040""",isolated congenital auditory ossicle malformation,['congenital auditory ossicle malformation without external ear abnormality'] +"""GARD:0020041""",non-syndromic cerebral malformation due to abnormal neuronal migration,['brain malformation due to abnormal neuronal migration'] +"""GARD:0020042""",subacute cutaneous lupus erythematosus,[] +"""GARD:0020043""",chronic cutaneous lupus erythematosus,[] +"""GARD:0020044""",rare bacterial infectious disease,[] +"""GARD:0020045""",rare viral disease,[] +"""GARD:0020046""",rare parasitic disease,[] +"""GARD:0020047""",rare mycosis,[] +"""GARD:0020048""",bile acid synthesis defect with cholestasis and malabsorption,[] +"""GARD:0020049""","rare disorder related with pregnancy, childbirth and puerperium",[] +"""GARD:0020050""",cryptogenic late-onset epileptic spasms,['late-onset infantile spasms'] +"""GARD:0020051""",posttransplant acute limbic encephalitis,['pale'] +"""GARD:0020052""",acrodermatitis continua of hallopeau,[] +"""GARD:0020053""",atopic keratoconjunctivitis,[] +"""GARD:0020054""","x-linked intellectual disability, cilliers type",['x-linked intellectual disability-microcephaly-testicular failure syndrome'] +"""GARD:0020055""",rare odontal or periodontal disorder,[] +"""GARD:0020056""",middle ear anomaly,[] +"""GARD:0020057""",acute myeloid leukemia and myelodysplastic syndromes related to radiation,['aml and myelodysplastic syndromes related to radiation'] +"""GARD:0020058""",rare acquired aplastic anemia,[] +"""GARD:0020059""",rare genetic gastroenterological disease,[] +"""GARD:0020060""",genetic intestinal disease,[] +"""GARD:0020061""",genetic gastro-esophageal disease,[] +"""GARD:0020062""",genetic pancreatic disease,[] +"""GARD:0020063""",non-syndromic urogenital tract malformation,[] +"""GARD:0020064""",syndromic urogenital tract malformation,[] +"""GARD:0020065""",wound myiasis,['traumatic myiasis'] +"""GARD:0020066""",cavitary myiasis,[] +"""GARD:0020067""",diazoxide-sensitive diffuse hyperinsulinism,['hyperinsulinemic hypoglycemia; diazoxide-sensitive diffuse form'] +"""GARD:0020068""",diazoxide-resistant diffuse hyperinsulinism,['hyperinsulinemic hypoglycemia; diazoxide-resistant diffuse form'] +"""GARD:0020069""",bazex syndrome,"['acrokeratosis of bazex', 'acrokeratosis paraneoplastica', 'acrokeratosis paraneoplastica of bazex']" +"""GARD:0020070""",porokeratotic eccrine ostial and dermal duct nevus,"['comedo nevus of the palm', 'porokeratotic eccrine nevus']" +"""GARD:0020071""",benign non-familial infantile seizures,[] +"""GARD:0020072""",benign partial epilepsy of infancy with complex partial seizures,[] +"""GARD:0020073""",benign partial epilepsy with secondarily generalized seizures in infancy,[] +"""GARD:0020074""",benign infantile seizures associated with mild gastroenteritis,[] +"""GARD:0020075""",benign infantile focal epilepsy with midline spikes and waves during sleep,['bimse'] +"""GARD:0020076""",benign partial infantile seizures,[] +"""GARD:0020077""",audiogenic seizures,[] +"""GARD:0020078""",eating reflex epilepsy,"['eating epilepsy', 'eating seizures']" +"""GARD:0020079""",orgasm-induced seizures,[] +"""GARD:0020080""",thinking seizures,[] +"""GARD:0020081""",startle epilepsy,[] +"""GARD:0020082""",micturation-induced seizures,[] +"""GARD:0020083""",epilepsy syndrome,[] +"""GARD:0020084""",neurocutaneous syndrome with epilepsy,[] +"""GARD:0020085""",chromosomal anomaly with epilepsy as a major feature,[] +"""GARD:0020086""",monogenic disease with epilepsy,[] +"""GARD:0020087""",idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes,[] +"""GARD:0020088""",cerebral malformation with epilepsy,[] +"""GARD:0020089""",metabolic diseases with epilepsy,[] +"""GARD:0020090""",inflammatory and autoimmune disease with epilepsy,[] +"""GARD:0020091""",cerebral diseases of vascular origin with epilepsy,[] +"""GARD:0020092""",infectious disease with epilepsy,[] +"""GARD:0020093""",rare hemorrhagic disorder due to an acquired coagulation factor defect,"['rare bleeding disorder due to an acquired coagulation factor defect', 'rare coagulopathy due to an acquired coagulation factor defect']" +"""GARD:0020094""",hereditary dentin defect,[] +"""GARD:0020095""",rare disease with dentinogenesis imperfecta,[] +"""GARD:0020096""",rare cardiomyopathy,[] +"""GARD:0020097""",rare cardiac tumor,[] +"""GARD:0020098""","dysplasia of head of femur, meyer type","['dysplasia epiphysealis capitis femoris', 'meyer dysplasia']" +"""GARD:0020099""",rare pervasive developmental disorder,"['rare asd', 'rare pdd', 'rare autism spectrum disorder']" +"""GARD:0020100""",primary peritoneal tumor,[] +"""GARD:0020101""",primary malignant peritoneal tumor,[] +"""GARD:0020102""",malignant peritoneal mesothelioma,"['diffuse malignant peritoneal mesothelioma', 'primary malignant peritoneal mesothelioma']" +"""GARD:0020103""",primary peritoneal carcinoma,"['eoppc', 'extra-ovarian primary peritoneal carcinoma', 'ppc', 'primary peritoneal serous carcinoma', 'serous surface papillary carcinoma']" +"""GARD:0020104""",chronic eosinophilic leukemia,[] +"""GARD:0020105""","myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of pdgfra, pdgfrb, fgfr1 or jak2",[] +"""GARD:0020106""",myeloid/lymphoid neoplasm associated with pdgfra rearrangement,[] +"""GARD:0020107""",myeloid/lymphoid neoplasm associated with pdgfrb rearrangement,[] +"""GARD:0020108""",refractory anemia with excess blasts in transformation,['raeb-t'] +"""GARD:0020109""",composite lymphoma,['composite hodgkin and non-hodgkin lymphoma'] +"""GARD:0020110""",malignant melanoma of the mucosa,[] +"""GARD:0020111""",immunoglobulin heavy chain deficiency,[] +"""GARD:0020112""",transient hypogammaglobulinemia of infancy,[] +"""GARD:0020113""",familial scaphocephaly syndrome,[] +"""GARD:0020114""",dna repair defect other than combined t-cell and b-cell immunodeficiencies,[] +"""GARD:0020115""",immuno-osseous dysplasia,[] +"""GARD:0020116""",immunodeficiency syndrome with autoimmunity,[] +"""GARD:0020117""",immune dysregulation disease with immunodeficiency,[] +"""GARD:0020118""",specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of b cells,[] +"""GARD:0020119""",idiopathic central precocious puberty,[] +"""GARD:0020120""",secondary central precocious puberty,[] +"""GARD:0020121""",congenital vitamin k-dependent coagulation factors deficiency,[] +"""GARD:0020122""",rectal duplication,[] +"""GARD:0020123""",limbal stem cell deficiency,[] +"""GARD:0020124""",idiopathic bilateral vestibulopathy,[] +"""GARD:0020125""",microcephaly-polymicrogyria-corpus callosum agenesis syndrome,[] +"""GARD:0020126""",6q16 microdeletion syndrome,"['del(6)(q16)', 'monosomy 6q16', 'prader-willi-like syndrome due to microdeletion 6q16']" +"""GARD:0020127""",craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome,"['berant syndrome', 'capra-demarco syndrome', 'familial scaphocephaly-radioulnar synostosis syndrome']" +"""GARD:0020128""",intellectual disability-cataracts-kyphosis syndrome,[] +"""GARD:0020129""",myopathy with hexagonally cross-linked tubular arrays,[] +"""GARD:0020130""",myeloid hemopathy,[] +"""GARD:0020131""",lymphoid hemopathy,[] +"""GARD:0020132""",b-cell non-hodgkin lymphoma,['b-cell nhl'] +"""GARD:0020133""",t-cell non-hodgkin lymphoma,['t-cell nhl'] +"""GARD:0020134""",congenital myopathy with cores,[] +"""GARD:0020135""",congenital hypogonadotropic hypogonadism,[] +"""GARD:0020136""",rare adult hypothyroidism,[] +"""GARD:0020137""",syndromic hypothyroidism,[] +"""GARD:0020138""",prader-willi syndrome due to paternal deletion of 15q11q13 type 1,[] +"""GARD:0020139""",prader-willi syndrome due to paternal deletion of 15q11q13 type 2,[] +"""GARD:0020140""",non-acquired combined pituitary hormone deficiencies without extrapituitary malformations,[] +"""GARD:0020141""",rare peripheral precocious puberty,[] +"""GARD:0020142""",transient congenital hypothyroidism,[] +"""GARD:0020143""",antenatal multiminicore disease with arthrogryposis multiplex congenita,[] +"""GARD:0020144""",isolated sternocostoclavicular hyperostosis,['isolated scch'] +"""GARD:0020145""",undifferentiated embryonal sarcoma of the liver,"['embryonal sarcoma of the liver', 'ues', 'undifferentiated sarcoma of the liver']" +"""GARD:0020146""",acute lung injury,[] +"""GARD:0020147""",osteosclerosis-developmental delay-craniosynostosis syndrome,[] +"""GARD:0020148""",hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation,[] +"""GARD:0020149""",wound botulism,"['cutaneous infectious botulism', 'cutaneous toxin-mediated botulism', 'inoculation botulism', 'skin infectious botulism', 'skin toxin-mediated botulism']" +"""GARD:0020150""",infant botulism,"['infant intestinal botulism', 'infant intestinal toxemia botulism', 'infant intestinal toxin-mediated botulism', 'infantile botulism']" +"""GARD:0020151""",intestinal botulism,"['intestinal colonization botulism', 'intestinal toxemia botulism', 'intestinal toxin-mediated botulism']" +"""GARD:0020152""",adult intestinal botulism,"['adult intestinal colonization botulism', 'adult intestinal toxemia botulism', 'adult intestinal toxin-mediated botulism', 'infant-like botulism']" +"""GARD:0020153""",myopic macular degeneration,['myopic maculopathy'] +"""GARD:0020154""",folliculotropic mycosis fungoides,['mycosis fungoides-associated follicular mucinosis'] +"""GARD:0020155""",localized pagetoid reticulosis,['pagetoid reticulosis; woringer-kolopp type'] +"""GARD:0020156""",primary cutaneous cd4+ small/medium-sized pleomorphic t-cell lymphoma,[] +"""GARD:0020157""",primary cutaneous aggressive epidermotropic cd8+ t-cell lymphoma,"['berti lymphoma', 'primary cutaneous epidermotropic cytotoxic cd8+ t-cell lymphoma']" +"""GARD:0020158""",primary cutaneous gamma/delta-positive t-cell lymphoma,[] +"""GARD:0020159""",primary cutaneous marginal zone b-cell lymphoma,['pcmzl'] +"""GARD:0020160""","primary cutaneous diffuse large b-cell lymphoma, leg type",['pcdlbcl;lt'] +"""GARD:0020161""",indolent primary cutaneous t-cell lymphoma,[] +"""GARD:0020162""",aggressive primary cutaneous t-cell lymphoma,[] +"""GARD:0020163""",aggressive primary cutaneous b-cell lymphoma,[] +"""GARD:0020164""",indolent primary cutaneous b-cell lymphoma,[] +"""GARD:0020165""",primary cutaneous b-cell lymphoma,[] +"""GARD:0020166""",mycosis fungoides and variants,[] +"""GARD:0020167""",acquired neutropenia,['immunologic neutropenia'] +"""GARD:0020168""",primary immunodeficiency due to a defect in adaptive immunity,[] +"""GARD:0020169""",obesity due to congenital leptin resistance,[] +"""GARD:0020170""",uterovaginal malformation,[] +"""GARD:0020171""",non-syndromic uterovaginal malformation,[] +"""GARD:0020172""",partial bilateral aplasia of the müllerian ducts,['incomplete bilateral aplasia of the müllerian ducts'] +"""GARD:0020173""",unilateral aplasia of the müllerian ducts,['unicornuate uterus'] +"""GARD:0020174""",true unicornuate uterus,"['complete unilateral müllerian aplasia', 'complete unilateral aplasia of the müllerian ducts', 'unicornuate uterus without rudimentary horn']" +"""GARD:0020175""",pseudounicornuate uterus,"['incomplete unilateral müllerian aplasia', 'incomplete unilateral aplasia of the müllerian ducts', 'unicornuate uterus with rudimentary horn']" +"""GARD:0020176""",didelphys uterus,['bicervical bicornuate uterus'] +"""GARD:0020177""",bicervical bicornuate uterus and blind hemivagina,[] +"""GARD:0020178""",bicervical bicornuate uterus with patent cervix and vagina,[] +"""GARD:0020179""",unicervical bicornuate uterus,[] +"""GARD:0020180""",septate uterus,[] +"""GARD:0020181""",complete septate uterus,['total septate uterus'] +"""GARD:0020182""",partial septate uterus,"['subtotal septate uterus', 'uterus subseptus']" +"""GARD:0020183""",bicornuate uterus,[] +"""GARD:0020184""",uterine hypoplasia,[] +"""GARD:0020185""",absence of uterine body,[] +"""GARD:0020186""",uterine cervical aplasia and agenesis,[] +"""GARD:0020187""",syndromic uterovaginal malformation,[] +"""GARD:0020188""",rare vaginal malformation,[] +"""GARD:0020189""",septate vagina,[] +"""GARD:0020190""",longitudinal vaginal septum,[] +"""GARD:0020191""",transverse vaginal septum,[] +"""GARD:0020192""",rare breast malformation,[] +"""GARD:0020193""",excess breast volume or number,[] +"""GARD:0020194""",deficient breast volume or number,[] +"""GARD:0020195""",supernumerary breasts,"['accessory breasts', 'polymastia']" +"""GARD:0020196""",syndromic breast hypoplasia/aplasia,[] +"""GARD:0020197""",rare non-malformative gynecologic or obstetric disease,[] +"""GARD:0020198""",rare non-malformative breast disease,[] +"""GARD:0020199""",rare non-malformative uterovaginal or vulvovaginal disease,[] +"""GARD:0020200""",anomaly of puberty or/and menstrual cycle,[] +"""GARD:0020201""",rare uterine adnexal tumor,[] +"""GARD:0020202""",mixed germ cell tumor,[] +"""GARD:0020203""",benign tumor of fallopian tubes,[] +"""GARD:0020204""",malignant tumor of fallopian tubes,"['cancer of fallopian tubes', 'malignant tubal tumor', 'tubal cancer']" +"""GARD:0020205""",rare breast tumor,[] +"""GARD:0020206""",giant adenofibroma of the breast,[] +"""GARD:0020207""",rare non-malformative uterine adnexal disease,[] +"""GARD:0020208""",rare vulvovaginal tumor,[] +"""GARD:0020209""",malformative syndrome with dentinogenesis imperfecta,[] +"""GARD:0020211""",non-syndromic diaphragmatic or thoracic malformation,[] +"""GARD:0020212""",syndromic diaphragmatic or thoracic malformation,[] +"""GARD:0020213""",rare gastroesophageal tumor,[] +"""GARD:0020214""",rare insulin-resistance syndrome,[] +"""GARD:0020215""",rare diabetes mellitus type 1,['rare insulin-dependent diabetes mellitus'] +"""GARD:0020216""",rare diabetes mellitus type 2,['rare insulin-independent diabetes mellitus'] +"""GARD:0020217""",other rare diabetes mellitus,[] +"""GARD:0020218""",rare hypothalamic or pituitary disease,[] +"""GARD:0020219""",rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism,[] +"""GARD:0020220""",endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature,[] +"""GARD:0020221""",rare hypothyroidism,[] +"""GARD:0020222""",rare hyperthyroidism,[] +"""GARD:0020223""",syndrome with hypoparathyroidism,[] +"""GARD:0020224""",rare hypoparathyroidism,[] +"""GARD:0020225""",rare hyperparathyroidism,[] +"""GARD:0020226""",adrenogenital syndrome,[] +"""GARD:0020227""",rare primary hyperaldosteronism,['rare primary aldosteronism'] +"""GARD:0020228""",rare hypoaldosteronism,[] +"""GARD:0020229""",rare hyperlipidemia,[] +"""GARD:0020230""",hyperalphalipoproteinemia,[] +"""GARD:0020231""",rare hypolipidemia,[] +"""GARD:0020232""",rare syndromic dyslipidemia,[] +"""GARD:0020233""",rare disorder with hypergonadotropic hypogonadism,['rare disorder with primary hypogonadism'] +"""GARD:0020234""",aplastic anemia,[] +"""GARD:0020235""",rare constitutional hemolytic anemia,[] +"""GARD:0020236""",rare acquired hemolytic anemia,[] +"""GARD:0020237""",rare thrombotic disease of hematologic origin,[] +"""GARD:0020238""",cerebellar malformation,[] +"""GARD:0020239""",rare neuroinflammatory or neuroimmunological disease,[] +"""GARD:0020240""",rare neurodegenerative disease,[] +"""GARD:0020241""",arx-related epileptic encephalopathy,[] +"""GARD:0020242""",channelopathy with epilepsy,[] +"""GARD:0020243""",acquired peripheral neuropathy,[] +"""GARD:0020244""",interstitial lung disease,['ild'] +"""GARD:0020245""",pneumoconiosis,[] +"""GARD:0020246""",idiopathic eosinophilic pneumonia,[] +"""GARD:0020247""",secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease,"['ctd-ild', 'secondary ild in childhood and adulthood associated with a connective tissue disease']" +"""GARD:0020248""",thoracic malformation,[] +"""GARD:0020249""",respiratory malformation,[] +"""GARD:0020250""",rare urogenital tumor,[] +"""GARD:0020251""",non-syndromic urogenital tract malformation of female,[] +"""GARD:0020252""",non-syndromic urogenital tract malformation of male,[] +"""GARD:0020253""",non-syndromic urogenital tract malformation of male and female,[] +"""GARD:0020254""",tumor of endocrine glands,[] +"""GARD:0020255""",rare systemic disease,[] +"""GARD:0020256""",systemic autoimmune disease,[] +"""GARD:0020257""",rare rheumatologic disease,[] +"""GARD:0020258""",genetic urticaria,[] +"""GARD:0020259""",polymalformative genetic syndrome with increased risk of developing cancer,[] +"""GARD:0020260""",genetic epidermal disorder,[] +"""GARD:0020261""",inherited ichthyosis,['genetic ichthyosis'] +"""GARD:0020262""",genetic erythrokeratoderma,[] +"""GARD:0020263""",genetic acrokeratoderma,[] +"""GARD:0020264""",genetic porokeratosis,[] +"""GARD:0020265""",genetic epidermal appendage anomaly,[] +"""GARD:0020266""",genetic hair anomaly,[] +"""GARD:0020267""",genetic nail anomaly,[] +"""GARD:0020268""",genetic sebaceous gland anomaly,[] +"""GARD:0020269""",genetic pigmentation anomaly of the skin,[] +"""GARD:0020270""",genetic hyperpigmentation of the skin,[] +"""GARD:0020271""",genetic hypopigmentation of the skin,[] +"""GARD:0020272""",genetic dermis disorder,[] +"""GARD:0020273""",genetic skin vascular disorder,[] +"""GARD:0020274""",genetic mixed dermis disorder,[] +"""GARD:0020275""",genetic subcutaneous tissue disorder,[] +"""GARD:0020276""",genetic skin tumor or hamartoma,[] +"""GARD:0020277""",genetic photodermatosis,"['genetic skin photosensitivity', 'photogenodermatosis', 'photogénodermatose']" +"""GARD:0020278""",genetic immune deficiency with skin involvement,[] +"""GARD:0020279""",genetic neuromuscular disease,[] +"""GARD:0020280""",genetic neurodegenerative disease,[] +"""GARD:0020281""",genetic central nervous system and retinal vascular disease,[] +"""GARD:0020282""",genetic central nervous system malformation,[] +"""GARD:0020283""",rare genetic headache,[] +"""GARD:0020284""",rare genetic epilepsy,[] +"""GARD:0020285""",rare genetic medullar disease,[] +"""GARD:0020286""",rare hereditary ataxia,[] +"""GARD:0020287""",rare genetic movement disorder,[] +"""GARD:0020288""",rare genetic bone disease,[] +"""GARD:0020289""",genetic bone tumor,[] +"""GARD:0020290""",rare genetic developmental defect during embryogenesis,[] +"""GARD:0020291""",genetic multiple congenital anomalies/dysmorphic syndrome,[] +"""GARD:0020292""",genetic congenital limb malformation,[] +"""GARD:0020293""",genetic renal or urinary tract malformation,[] +"""GARD:0020294""",genetic cranial malformation,[] +"""GARD:0020295""",genetic digestive tract malformation,[] +"""GARD:0020296""","genetic visceral malformation of the liver, biliary tract, pancreas or spleen",[] +"""GARD:0020297""",genetic respiratory or mediastinal malformation,[] +"""GARD:0020298""",genetic developmental defect of the eye,[] +"""GARD:0020299""",genetic malformation syndrome with short stature,[] +"""GARD:0020300""",genetic overgrowth/obesity syndrome,[] +"""GARD:0020301""",genetic branchial arch or oral-acral syndrome,[] +"""GARD:0020302""",genetic malformation syndrome with odontal and/or periodontal component,[] +"""GARD:0020303""",genetic head and neck malformation,[] +"""GARD:0020304""",genetic glomerular disease,[] +"""GARD:0020305""",genetic thrombotic microangiopathy,[] +"""GARD:0020306""",genetic renal tubular disease,[] +"""GARD:0020307""",genetic renal tumor,[] +"""GARD:0020308""",genetic lens and zonula anomaly,[] +"""GARD:0020309""",genetic neuro-ophthalmological disease,[] +"""GARD:0020310""",genetic eye tumor,[] +"""GARD:0020311""",genetic respiratory malformation,[] +"""GARD:0020312""",rare genetic diabetes mellitus,[] +"""GARD:0020313""",rare genetic hypothalamic or pituitary disease,[] +"""GARD:0020314""",rare genetic thyroid disease,[] +"""GARD:0020315""",rare genetic parathyroid disease and phosphocalcic metabolism disorder,[] +"""GARD:0020316""",rare genetic adrenal disease,[] +"""GARD:0020317""",genetic polyendocrinopathy,[] +"""GARD:0020318""",rare constitutional anemia,[] +"""GARD:0020319""",rare genetic coagulation disorder,[] +"""GARD:0020320""",agammaglobulinemia,[] +"""GARD:0020321""",functional neutrophil defect,[] +"""GARD:0020322""",genetic susceptibility to infections due to particular pathogens,[] +"""GARD:0020323""",rare genetic gynecological and obstetrical diseases,[] +"""GARD:0020324""",genetic gynecological tumor,[] +"""GARD:0020325""",rare genetic intellectual disability,[] +"""GARD:0020326""",rare genetic syndromic intellectual disability,[] +"""GARD:0020327""",rare genetic immune disease,[] +"""GARD:0020328""",superficial fibromatosis,[] +"""GARD:0020329""",calcifying aponeurotic fibroma,"['juvenile aponeurotic fibromatosis', 'keasby tumor']" +"""GARD:0020330""",congenital microgastria,[] +"""GARD:0020331""",late-onset isolated acth deficiency,[] +"""GARD:0020332""",tetragametic chimerism,['46;xx/46;xy chimerism'] +"""GARD:0020333""",endophthalmitis,[] +"""GARD:0020334""","isolated autosomal dominant hypomagnesemia, glaudemans type",[] +"""GARD:0020335""","congenital myopathy, paradas type",[] +"""GARD:0020336""",atypical autism,[] +"""GARD:0020337""",isolated cerebellar vermis hypoplasia,[] +"""GARD:0020338""",non-syndromic cerebral malformation,['non-syndromic brain malformation'] +"""GARD:0020339""",syndrome with corpus callosum agenesis/dysgenesis as a major feature,[] +"""GARD:0020340""",paroxysmal dystonia,[] +"""GARD:0020341""",anomaly of puberty or/and menstrual cycle of genetic origin,[] +"""GARD:0020342""",syndromic microphthalmia-anophthalmia-coloboma,['syndromic microphthalmia'] +"""GARD:0020343""",infantile krabbe disease,"['krabbe disease; classic form', 'krabbe disease; early-onset']" +"""GARD:0020344""",late-infantile/juvenile krabbe disease,['krabbe disease; late-onset'] +"""GARD:0020345""",adult krabbe disease,[] +"""GARD:0020346""",cystadenoma of childhood,['cystadenoma of ovary in childhood'] +"""GARD:0020347""",malignant germ cell tumor of the vagina,"['vaginal germ cell cancer', 'vaginal germ cell malignant tumor']" +"""GARD:0020348""",vulvovaginal rhabdomyosarcoma,[] +"""GARD:0020349""",malignant non-dysgerminomatous germ cell tumor of ovary,['non-dysgerminomatous germ cell cancer of ovary'] +"""GARD:0020350""",symptomatic form of muscular dystrophy of duchenne and becker in female carriers,[] +"""GARD:0020351""",immune-mediated necrotizing myopathy,"['anti-hmg-coa myopathy', 'anti-srp myopathy', 'autoimmune necrotizing myositis', 'imnm', 'immune myopathy with myocyte necrosis', 'nam']" +"""GARD:0020352""",overlap myositis,"['adult-onset overlap myositis', 'non-specific myositis']" +"""GARD:0020353""",rippling muscle disease with myasthenia gravis,"['acquired rippling muscle disease', 'immune-mediated rippling muscle disease']" +"""GARD:0020354""",neurolymphomatosis,[] +"""GARD:0020355""",subacute inflammatory demyelinating polyneuropathy,['subacute inflammatory demyelinating polyradiculoneuropathy'] +"""GARD:0020356""",isolated asymptomatic elevation of creatine phosphokinase,"['idiopathic asymptomatic hyperckemia', 'isolated asymptomatic hyperckemia']" +"""GARD:0020357""",infectious disease with peripheral neuropathy,[] +"""GARD:0020358""",genetic skeletal muscle disease,[] +"""GARD:0020359""",acquired skeletal muscle disease,[] +"""GARD:0020360""",progressive muscular dystrophy,[] +"""GARD:0020361""",autosomal dominant distal myopathy,[] +"""GARD:0020362""",autosomal recessive distal myopathy,[] +"""GARD:0020363""",non-dystrophic myopathy,[] +"""GARD:0020364""",inclusion myopathy,[] +"""GARD:0020365""",bulbospinal muscular atrophy,[] +"""GARD:0020366""",bulbospinal muscular atrophy of childhood,[] +"""GARD:0020367""",bulbospinal muscular atrophy of adult,[] +"""GARD:0020368""",generalized bulbospinal muscular atrophy,[] +"""GARD:0020369""",muscular lipidosis,['lipid storage myopathy'] +"""GARD:0020370""",muscular glycogenosis,['glycogen storage myopathy'] +"""GARD:0020371""",mitochondrial myopathy,[] +"""GARD:0020372""",myotonic syndrome,[] +"""GARD:0020373""",congenital myotonia,[] +"""GARD:0020374""",periodic paralysis,[] +"""GARD:0020375""",muscular tumor,[] +"""GARD:0020376""","infectious, fungal or parasitic myopathy",[] +"""GARD:0020377""",viral myositis,[] +"""GARD:0020378""",bacterial myositis,[] +"""GARD:0020379""",parasitic myositis,[] +"""GARD:0020380""",fungal myositis,[] +"""GARD:0020381""",spinal muscular atrophy associated with central nervous system anomaly,[] +"""GARD:0020382""",rare hereditary metabolic disease with peripheral neuropathy,[] +"""GARD:0020383""",rare hereditary systemic disease with peripheral neuropathy,[] +"""GARD:0020384""",rare hereditary neurologic disease with peripheral neuropathy,[] +"""GARD:0020385""",cerebellar ataxia with peripheral neuropathy,[] +"""GARD:0020386""",acute and subacute inflammatory demyelinating polyneuropathy,['acute and subacute inflammatory demyelinating polyradiculoneuropathy'] +"""GARD:0020387""",malignant lymphoma with peripheral neuropathy,[] +"""GARD:0020388""",qualitative or quantitative protein defects in neuromuscular diseases,[] +"""GARD:0020389""",qualitative or quantitative defects of sarcoglycan,['sarcoglycanopathy'] +"""GARD:0020390""",qualitative or quantitative defects of alpha-sarcoglycan,[] +"""GARD:0020391""",qualitative or quantitative defects of beta-sarcoglycan,[] +"""GARD:0020392""",qualitative or quantitative defects of gamma-sarcoglycan,[] +"""GARD:0020393""",qualitative or quantitative defects of delta-sarcoglycan,[] +"""GARD:0020394""",qualitative or quantitative defects of caveolin-3,['caveolinopathy'] +"""GARD:0020395""",qualitative or quantitative defects of collagen 6,[] +"""GARD:0020396""",laminin subunit alpha 2-related muscular dystrophy,"['lama2-related muscular dystrophy', 'qualitative or quantitative defects of merosin']" +"""GARD:0020397""",qualitative or quantitative defects of integrin alpha-7,['integrinopathy'] +"""GARD:0020398""",qualitative or quantitative defects of perlecan,[] +"""GARD:0020399""",qualitative or quantitative defects of calpain,[] +"""GARD:0020400""",qualitative or quantitative defects of trim32,[] +"""GARD:0020401""",qualitative or quantitative defects of myotubularin,[] +"""GARD:0020402""",qualitative or quantitative defects of protein involved in o-glycosylation of alpha-dystroglycan,"['secondary alpha-dystroglycanopathy', 'secondary dystroglycanopathy']" +"""GARD:0020403""",qualitative or quantitative defects of fkrp,[] +"""GARD:0020404""",qualitative or quantitative defects of fukutin,[] +"""GARD:0020405""",autosomal dominant cerebellar ataxia type ii,"['adca2', 'adcaii', 'autosomal dominant cerebellar ataxia type 2']" +"""GARD:0020406""",herpetiform pemphigus,[] +"""GARD:0020407""",genetic hypoparathyroidism,[] +"""GARD:0020408""",genetic hyperparathyroidism,[] +"""GARD:0020409""",chronic acquired demyelinating polyneuropathy,['cadp'] +"""GARD:0020410""",chronic polyradiculoneuropathy,[] +"""GARD:0020411""",polyradiculoneuropathy associated with igg/iga/igm monoclonal gammopathy without known antibodies,[] +"""GARD:0020412""",acquired sensory ganglionopathy,['acquired sensory neuronopathy'] +"""GARD:0020413""",non-paraneoplastic sensory ganglionopathy,['non-paraneoplastic sensory neuronopathy'] +"""GARD:0020414""",paraneoplastic sensory ganglionopathy,['paraneoplastic sensory neuronopathy'] +"""GARD:0020415""",axonal polyneuropathy associated with igg/igm/iga monoclonal gammopathy,[] +"""GARD:0020416""",systemic inflammatory disease associated with an acquired peripheral neuropathy,[] +"""GARD:0020417""",peripheral neuropathy associated with monoclonal gammopathy,[] +"""GARD:0020418""",acquired amyloid peripheral neuropathy,[] +"""GARD:0020419""",hematological disease associated with an acquired peripheral neuropathy,[] +"""GARD:0020420""",solid tumor associated with an acquired peripheral neuropathy,[] +"""GARD:0020421""","qualitative or quantitative defects of protein o-mannose beta1,2n-acetylglucosaminyltransferase",['qualitative or quantitative defects of protein pomgnt1'] +"""GARD:0020422""",qualitative or quantitative defects of protein glycosyltransferase-like,[] +"""GARD:0020423""",qualitative or quantitative defects of protein o-mannosyltransferase 1,[] +"""GARD:0020424""",qualitative or quantitative defects of protein o-mannosyltransferase 2,[] +"""GARD:0020425""",qualitative or quantitative defects of myofibrillar proteins,[] +"""GARD:0020426""",qualitative or quantitative defects of desmin,[] +"""GARD:0020427""",qualitative or quantitative defects of alphab-cristallin,[] +"""GARD:0020428""",qualitative or quantitative defects of filamin c,[] +"""GARD:0020429""",qualitative or quantitative defects of protein zasp,[] +"""GARD:0020430""",qualitative or quantitative defects of titin,[] +"""GARD:0020431""",qualitative or quantitative defects of telethonin,[] +"""GARD:0020432""",qualitative or quantitative defects of alpha-actin,[] +"""GARD:0020433""",qualitative or quantitative defects of nebulin,[] +"""GARD:0020434""",qualitative or quantitative defects of beta-myosin heavy chain (myh7),[] +"""GARD:0020435""",qualitative or quantitative defects of emerin,[] +"""GARD:0020436""",qualitative or quantitative defects of selenoprotein n1,[] +"""GARD:0020437""",qualitative or quantitative defects of plectin,[] +"""GARD:0020438""",qualitative or quantitative defects of protein serca1,[] +"""GARD:0020439""",qualitative or quantitative defects of glucosamine (udp-n-acetyl)-2-epimerase/n-acetylmannosamine kinase -,[] +"""GARD:0020440""",myotilinopathy,['qualitative or quantitative defects of myotilin'] +"""GARD:0020441""",hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,[] +"""GARD:0020442""",idiopathic uveal effusion syndrome,[] +"""GARD:0020443""",phacoanaphylactic uveitis,"['endophthalmitis phacoanaphylactica', 'lens-induced endophthalmitis', 'lens-induced iridocyclitis', 'lens-induced uveitis', 'phacoallergic endophthalmitis', 'phacoantigenic endophthalmitis', 'phako-anaphylactic endophthalmitis']" +"""GARD:0020444""",solitary rectal ulcer syndrome,[] +"""GARD:0020445""",benign nocturnal alternating hemiplegia of childhood,[] +"""GARD:0020446""",alternating hemiplegia,[] +"""GARD:0020447""",non-papillary transitional cell carcinoma of the bladder,['non-papillary urothelial carcinoma'] +"""GARD:0020448""",leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome,[] +"""GARD:0020449""",pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome,[] +"""GARD:0020450""",congenital temporomandibular joint ankylosis,['congenital trismus'] +"""GARD:0020451""",temporomandibular joint anomaly,[] +"""GARD:0020452""",spindle cell hemangioma,['spindle cell hemangioendothelioma'] +"""GARD:0020453""",infantile hemangioma of rare localization,[] +"""GARD:0020454""",autosomal dominant proximal spinal muscular atrophy,[] +"""GARD:0020455""",specific learning disability,"['specific learning difficulty', 'specific learning disorder']" +"""GARD:0020456""",specific language disorder,['dysphasia'] +"""GARD:0020457""",hereditary episodic ataxia,[] +"""GARD:0020458""",rare vascular tumor,[] +"""GARD:0020459""",genetic vascular anomaly,[] +"""GARD:0020460""",simple vascular malformation,[] +"""GARD:0020461""",rare capillary malformation,[] +"""GARD:0020462""",rare venous malformation,[] +"""GARD:0020463""",rare lymphatic system anomaly,[] +"""GARD:0020464""",rare arteriovenous malformation,[] +"""GARD:0020465""",complex vascular malformation with associated anomalies,['hemangiolymphangioma'] +"""GARD:0020466""",adenocarcinoma of ovary,['ovarian adenocarcinoma'] +"""GARD:0020467""",familial ovarian cancer,['familial ovarian malignant tumor'] +"""GARD:0020468""",hereditary site-specific ovarian cancer syndrome,[] +"""GARD:0020469""",rare uterine cancer,"['rare cancer of uterus', 'rare malignant tumor of uterus', 'rare uterine malignant tumor']" +"""GARD:0020470""",rare cancer of corpus uteri,['rare malignant tumor of corpus uteri'] +"""GARD:0020471""",rare variants of adenocarcinoma of the corpus uteri,[] +"""GARD:0020472""",malignant mixed epithelial and mesenchymal tumor of corpus uteri,['mixed epithelial and mesenchymal cancer of corpus uteri'] +"""GARD:0020473""",adenosarcoma of the corpus uteri,[] +"""GARD:0020474""",carcinofibroma of the corpus uteri,[] +"""GARD:0020475""",rhabdomyosarcoma of the corpus uteri,[] +"""GARD:0020476""",sarcoma of the corpus uteri,[] +"""GARD:0020477""",leiomyosarcoma of the corpus uteri,[] +"""GARD:0020478""",primitive neuroectodermal tumor of the corpus uteri,"['malignant peripheral neuroectodermal tumor of the corpus uteri', 'peripheral neuroectodermal cancer of the corpus uteri']" +"""GARD:0020479""",squamous cell carcinoma of the corpus uteri,['endometrial squamous cell carcinoma'] +"""GARD:0020480""",undifferentiated carcinoma of the corpus uteri,['endometrial undifferentiated carcinoma'] +"""GARD:0020481""",serous carcinoma of the corpus uteri,['endometrial serous carcinoma'] +"""GARD:0020482""",high-grade neuroendocrine carcinoma of the corpus uteri,"['high-grade neuroendocrine carcinoma of the uterine corpus', 'poorly differentiated neuroendocrine carcinoma of the corpus uteri', 'poorly differentiated neuroendocrine carcinoma of the endometrium']" +"""GARD:0020483""",low-grade neuroendocrine tumor of the corpus uteri,"['low-grade neuroendocrine tumor of the uterine corpus', 'well-differentiated neuroendocrine neoplasm of the endometrium', 'well-differentiated neuroendocrine tumor of the corpus uteri', 'well-differentiated neuroendocrine tumor of the endometrium']" +"""GARD:0020484""",transitional cell carcinoma of the corpus uteri,['endometrial transitional cell carcinoma'] +"""GARD:0020485""",malignant germ cell tumor of the corpus uteri,['germ cell cancer of the corpus uteri'] +"""GARD:0020486""",rare cancer of cervix uteri,"['rare cervical cancer', 'rare cervical malignant tumor', 'rare malignant tumor of cervix uteri']" +"""GARD:0020487""",squamous cell carcinoma of the cervix uteri,['cervical squamous cell carcinoma'] +"""GARD:0020488""",adenocarcinoma of the cervix uteri,['cervical adenocarcinoma'] +"""GARD:0020489""",high-grade neuroendocrine carcinoma of the cervix uteri,"['high-grade neuroendocrine carcinoma of the uterine cervix', 'poorly differentiated neuroendocrine carcinoma of the cervix uteri', 'poorly differentiated neuroendocrine cervical carcinoma']" +"""GARD:0020490""",malignant mixed epithelial and mesenchymal tumor of cervix uteri,"['cervical malignant mixed epithelial and mesenchymal tumor', 'mixed epithelial and mesenchymal cancer of cervix uteri']" +"""GARD:0020491""",carcinosarcoma of the cervix uteri,"['cervical carcinosarcoma', 'cervical malignant müllerian mixed tumor', 'malignant müllerian mixed tumor of the cervix uteri']" +"""GARD:0020492""",adenosarcoma of the cervix uteri,['cervical adenosarcoma'] +"""GARD:0020493""",sarcoma of cervix uteri,"['cervical malignant mesenchymal tumor', 'cervical sarcoma', 'malignant mesenchymal tumor of cervix uteri']" +"""GARD:0020494""",rhabdomyosarcoma of the cervix uteri,['cervical rhabdomyosarcoma'] +"""GARD:0020495""",leiomyosarcoma of the cervix uteri,['cervical leiomyosarcoma'] +"""GARD:0020496""",primitive neuroectodermal tumor of the cervix uteri,"['cervical malignant peripheral neuroectodermal tumor', 'cervical peripheral neuroectodermal cancer', 'malignant peripheral neuroectodermal tumor of the cervix uteri', 'peripheral neuroectodermal cancer of cervix uteri']" +"""GARD:0020497""",papillary carcinoma of the cervix uteri,['cervical papillary carcinoma'] +"""GARD:0020498""",adenoid cystic carcinoma of the cervix uteri,['cervical adenoid cystic carcinoma'] +"""GARD:0020499""",adenoid basal carcinoma of the cervix uteri,['cervical adenoid basal carcinoma'] +"""GARD:0020500""",glassy cell carcinoma of the cervix uteri,[] +"""GARD:0020501""",malignant germ cell tumor of the cervix uteri,"['cervical germ cell cancer', 'cervical malignant germ cell tumor', 'germ cell cancer of the cervix uteri']" +"""GARD:0020502""",isolated congenitally uncorrected transposition of the great arteries,['isolated congenitally uncorrected transposition of the great vessels'] +"""GARD:0020503""",congenitally uncorrected transposition of the great arteries with cardiac malformation,"['congenitally uncorrected transposition of the great vessels with cardiac malformation', 'tga with cardiac malformation']" +"""GARD:0020504""","niemann-pick disease type c, severe perinatal form",[] +"""GARD:0020505""","niemann-pick disease type c, severe early infantile neurologic onset",[] +"""GARD:0020506""","niemann-pick disease type c, late infantile neurologic onset",[] +"""GARD:0020507""","niemann-pick disease type c, juvenile neurologic onset",['niemann-pick disease type c; classic form'] +"""GARD:0020508""","niemann-pick disease type c, adult neurologic onset",[] +"""GARD:0020509""",5-fluorouracil poisoning,['5-fluorouracil intoxication'] +"""GARD:0020510""",pouchitis,[] +"""GARD:0020511""",rare carcinoma of pancreas,['rare pancreatic carcinoma'] +"""GARD:0020512""",pulmonary fungal infections in patients deemed at risk,[] +"""GARD:0020513""",nmda receptor encephalitis,"['limbic encephalitis with n-methyl-d-aspartate receptor antibodies', 'limbic encephalitis with nmda receptor antibodies', 'n-methyl-d-aspartate receptor encephalitis', 'nmdare', 'anti-nmda receptor encephalitis']" +"""GARD:0020514""",congenital insensitivity to pain-hyperhidrosis-absence of c-fiber innervation,"['congenital absence of pain with hyperhidrosis', 'congenital analgesia with hyperhidrosis', 'congenital indifference to pain with hyperhidrosis', 'congenital insensitivity to pain with hyperhidrosis']" +"""GARD:0020515""",rare hereditary thrombophilia,[] +"""GARD:0020516""",pulmonary interstitial glycogenosis,"['infantile cellular interstitial pneumonitis', 'pig']" +"""GARD:0020517""",neuroendocrine cell hyperplasia of infancy,"['nchi', 'nehi']" +"""GARD:0020518""",rare hypertrophic cardiomyopathy,[] +"""GARD:0020519""",glycogen storage disease with hypertrophic cardiomyopathy,"['gsd with hypertrophic cardiomyopathy', 'glycogenosis with hypertrophic cardiomyopathy']" +"""GARD:0020520""",lysosomal disease with hypertrophic cardiomyopathy,[] +"""GARD:0020521""",mitochondrial disease with hypertrophic cardiomyopathy,[] +"""GARD:0020522""",fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy,[] +"""GARD:0020523""",syndrome associated with hypertrophic cardiomyopathy,[] +"""GARD:0020524""",non-familial hypertrophic cardiomyopathy,[] +"""GARD:0020525""",familial dilated cardiomyopathy,[] +"""GARD:0020526""",neuromuscular disease with dilated cardiomyopathy,[] +"""GARD:0020527""",mitochondrial disease with dilated cardiomyopathy,[] +"""GARD:0020528""",fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy,[] +"""GARD:0020529""",syndrome associated with dilated cardiomyopathy,[] +"""GARD:0020530""",non-familial dilated cardiomyopathy,[] +"""GARD:0020531""",restrictive cardiomyopathy,[] +"""GARD:0020532""",familial restrictive cardiomyopathy,[] +"""GARD:0020533""",lysosomal disease with restrictive cardiomyopathy,[] +"""GARD:0020534""",unclassified cardiomyopathy,[] +"""GARD:0020535""",non-familial restrictive cardiomyopathy,[] +"""GARD:0020536""",rare cardiac rhythm disease,[] +"""GARD:0020537""",non-genetic cardiac rhythm disease,[] +"""GARD:0020538""",macrothrombocytopenia with mitral valve insufficiency,[] +"""GARD:0020539""",isolated hereditary giant platelet disorder,"['isolated hereditary macrothrombocytopenia', 'isolated inherited giant platelet disorder', 'isolated inherited macrothrombocytopenia']" +"""GARD:0020540""",rare hereditary hemochromatosis,['iron overload disease'] +"""GARD:0020541""",combined hyperactive dysfunction syndrome of the cranial nerves,[] +"""GARD:0020542""",cranial neuralgia,['facial neuralgia'] +"""GARD:0020543""",acquired peripheral movement disorder,[] +"""GARD:0020544""",confetti-like macular atrophy,[] +"""GARD:0020545""",hereditary poikiloderma,[] +"""GARD:0020546""",mitochondrial oxidative phosphorylation disorder,['oxphos disease'] +"""GARD:0020547""",bone sarcoma,[] +"""GARD:0020548""",lymphoma,[] +"""GARD:0020549""",sporadic infantile bilateral striatal necrosis,"['absn', 'acute bilateral striatal necrosis', 'sporadic ibsn', 'sporadic infantile striatonigral degeneration', 'sporadic infantile striatonigral necrosis']" +"""GARD:0020550""",lysosomal disease with epilepsy,[] +"""GARD:0020551""",peroxisomal disease with epilepsy,[] +"""GARD:0020552""",amino acid or protein metabolism disease with epilepsy,[] +"""GARD:0020553""",metal transport or utilization disorder with epilepsy,[] +"""GARD:0020554""",energy metabolism disorder with epilepsy,[] +"""GARD:0020555""",mitochondrial disease with epilepsy,[] +"""GARD:0020556""",mitochondrial disease with peripheral neuropathy,[] +"""GARD:0020557""",metabolic neurotransmission anomaly with epilepsy,[] +"""GARD:0020558""",sterol metabolism disorder with epilepsy,[] +"""GARD:0020559""",other metabolic disease with epilepsy,[] +"""GARD:0020560""",permanent congenital hypothyroidism,[] +"""GARD:0020561""",primary congenital hypothyroidism,[] +"""GARD:0020562""",hypothyroidism due to deficient transcription factors involved in pituitary development or function,[] +"""GARD:0020563""",congenital hypothyroidism due to maternal intake of antithyroid drugs,[] +"""GARD:0020564""",genetic transient congenital hypothyroidism,[] +"""GARD:0020565""","multiple system atrophy, cerebellar type","['msa; cerebellar type', 'msa-c', 'sporadic opca type 1', 'sporadic olivopontocerebellar atrophy type 1']" +"""GARD:0020566""",toxic oil syndrome,[] +"""GARD:0020567""",autoimmune polyendocrinopathy type 4,"['aps type 4', 'aps4', 'autoimmune polyendocrine syndrome type 4', 'autoimmune polyglandular syndrome type 4']" +"""GARD:0020568""",anal fistula,[] +"""GARD:0020569""",hughes-stovin syndrome,[] +"""GARD:0020570""",fusariosis,['fusarium infection'] +"""GARD:0020571""",multiple sclerosis variant,[] +"""GARD:0020572""",marburg acute multiple sclerosis,"['acute multiple sclerosis; marburg type', 'acute multiple sclerosis; marburg variant']" +"""GARD:0020573""",heart-hand syndrome,['atriodigital dysplasia'] +"""GARD:0020574""",genetic dermis elastic tissue disorder,[] +"""GARD:0020575""",acquired dermis elastic tissue disorder,[] +"""GARD:0020576""",acquired dermis elastic tissue disorder with decreased elastic tissue,[] +"""GARD:0020577""",acquired dermis elastic tissue disorder with increased elastic tissue,[] +"""GARD:0020578""",late-onset focal dermal elastosis,"['pxe-like late-onset focal dermal elastosis', 'pseudoxanthoma-like late-onset focal dermal elastosis']" +"""GARD:0020579""",linear focal elastosis,"['elastotic striae', 'linear focal dermal elastosis']" +"""GARD:0020580""",elastofibroma dorsi,[] +"""GARD:0020581""",acquired pseudoxanthoma elasticum,"['acquired gronblad-strandberg-touraine syndrome', 'acquired pxe']" +"""GARD:0020582""",elastoma,"['juvenile elastoma without osteopoikilosis', 'nevus elasticus', 'weidman juvenile elastoma']" +"""GARD:0020583""",papular elastorrhexis,[] +"""GARD:0020584""",primary anetoderma,['primary macular atrophy'] +"""GARD:0020585""",familial anetoderma,"['hereditary anetoderma', 'hereditary macular atrophy']" +"""GARD:0020586""",acquired cutis laxa,['cutis laxa acquisita'] +"""GARD:0020587""",white fibrous papulosis of the neck,[] +"""GARD:0020588""",pseudoxanthoma elasticum-like papillary dermal elastolysis,['pxe-like papillary dermal elastolysis'] +"""GARD:0020589""",mid-dermal elastolysis,[] +"""GARD:0020590""","autoimmune hemolytic anemia, cold type","['cold aiha', 'caha', 'caiha']" +"""GARD:0020591""",foodborne botulism,['intoxication botulism'] +"""GARD:0020592""",virus-associated trichodysplasia spinulosa,"['cyclosporine-induced folliculodystrophy', 'pilomatrix dysplasia', 'ts', 'trichodysplasia spinulosa', 'vats']" +"""GARD:0020593""",ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome,[] +"""GARD:0020594""",polyvalvular heart disease syndrome,['phd syndrome'] +"""GARD:0020595""",5q35 microduplication syndrome,"['dup(5)(q35)', 'trisomy 5q35']" +"""GARD:0020596""",syndromic agammaglobulinemia,[] +"""GARD:0020597""",toxin-mediated infectious botulism,['toxin-mediated infective botulism'] +"""GARD:0020598""",high-grade dysplasia in patients with barrett esophagus,[] +"""GARD:0020599""",drug-induced lupus erythematosus,['dile'] +"""GARD:0020600""",beckwith-wiedemann syndrome due to imprinting defect of 11p15,[] +"""GARD:0020601""",beckwith-wiedemann syndrome due to 11p15 microdeletion,[] +"""GARD:0020602""",beckwith-wiedemann syndrome due to 11p15 translocation/inversion,[] +"""GARD:0020603""",silver-russell syndrome due to 7p11.2p13 microduplication,"['silver-russell syndrome due to 7p11.2-p13 microduplication', 'silver-russell syndrome due to dup(7)(p11.2p13)', 'silver-russell syndrome due to trisomy 7p11.2-p13', 'silver-russell syndrome due to trisomy 7p11.2p13']" +"""GARD:0020604""",silver-russell syndrome due to an imprinting defect of 11p15,[] +"""GARD:0020605""",silver-russell syndrome due to 11p15 microduplication,[] +"""GARD:0020606""",silver-russell syndrome due to maternal uniparental disomy of chromosome 11,['upd(11)mat'] +"""GARD:0020607""",beta-thalassemia associated with another hemoglobin anomaly,['beta-thalassemia associated with another hb anomaly'] +"""GARD:0020608""",hemoglobin c-beta-thalassemia syndrome,"['c-beta-thalassemia', 'hbc-beta-thalassemia syndrome']" +"""GARD:0020609""",hemoglobin e-beta-thalassemia syndrome,"['e-beta-thalassemia', 'hbe-beta-thalassemia syndrome']" +"""GARD:0020610""",beta-thalassemia with other manifestations,[] +"""GARD:0020611""",variant of guillain-barré syndrome,['variant of gbs'] +"""GARD:0020612""",regional variant of guillain-barré syndrome,['regional variant of gbs'] +"""GARD:0020613""",functional variant of guillain-barré syndrome,['functional variant of gbs'] +"""GARD:0020614""",pharyngeal-cervical-brachial variant of guillain-barré syndrome,"['pcb variant of gbs', 'pcb variant of guillain-barré syndrome', 'pharyngeal-cervical-brachial weakness', 'pharyngo-cervico-brachial variant of gbs', 'pharyngo-cervico-brachial variant of guillain-barré syndrome']" +"""GARD:0020615""",paraparetic variant of guillain-barré syndrome,['paraparetic variant of gbs'] +"""GARD:0020616""",acute pure sensory neuropathy,"['acute pure sensory gbs', 'acute pure sensory guillain-barré syndrome']" +"""GARD:0020617""",acute pandysautonomia,"['acute panautonomic gbs', 'acute panautonomic guillain-barré syndrome', 'acute panautonomic neuropathy']" +"""GARD:0020618""",acute sensory ataxic neuropathy,"['asan', 'acute sensory ataxic gbs', 'acute sensory ataxic guillain-barré syndrome']" +"""GARD:0020619""",congenital erosive and vesicular dermatosis,"['cevd', 'congenital erosive and vesicular dermatosis with reticulated supple scarring']" +"""GARD:0020620""",primary unilateral adrenal hyperplasia,['puah'] +"""GARD:0020621""",adrenocortical carcinoma with pure aldosterone hypersecretion,"['pure apac', 'pure aldosterone-producing adrenocortical carcinoma', 'pure aldosterone-secreting adrenocortical carcinoma']" +"""GARD:0020622""",ectopic aldosterone-producing tumor,['extra-adrenal aldosterone-producing tumor'] +"""GARD:0020623""",rare surgically correctable form of primary aldosteronism,[] +"""GARD:0020624""",rare non surgically correctable form of primary aldosteronism,[] +"""GARD:0020625""",epibulbar lipodermoid-preauricular appendage-polythelia syndrome,[] +"""GARD:0020626""",infectious embryofetopathy,[] +"""GARD:0020627""",syndrome with alpha-thalassemia as a major feature,[] +"""GARD:0020628""",rare genetic vascular disease,[] +"""GARD:0020629""",congenital vascular bone syndrome,[] +"""GARD:0020630""",familial hyperaldosteronism,['fh'] +"""GARD:0020631""",aapoaii amyloidosis,"['apolipoprotein a-ii amyloidosis', 'familial amyloid nephropathy due to apolipoprotein a-ii variant', 'familial renal amyloidosis due to apolipoprotein a-ii variant', 'hereditary amyloid nephropathy due to apolipoprotein a-ii variant', 'hereditary renal amyloidosis due to apolipoprotein a-ii variant']" +"""GARD:0020632""",infundibulo-neurohypophysitis,[] +"""GARD:0020633""",lymphoproliferative syndrome,[] +"""GARD:0020634""",hypotonia-cystinuria type 1 syndrome,[] +"""GARD:0020635""",congenital secondary polycythemia,['congenital secondary erythrocytosis'] +"""GARD:0020636""",acquired secondary polycythemia,['acquired secondary erythrocytosis'] +"""GARD:0020637""",ileal pouch anal anastomosis related faecal incontinence,[] +"""GARD:0020638""",megacystis-megaureter syndrome,['megaureter-megacystis syndrome'] +"""GARD:0020639""","primary megaureter, adult-onset form",[] +"""GARD:0020640""","congenital primary megaureter, obstructed form",[] +"""GARD:0020641""","congenital primary megaureter, refluxing form",[] +"""GARD:0020642""","congenital primary megaureter, nonrefluxing and unobstructed form",[] +"""GARD:0020643""",isolated congenital hypogonadotropic hypogonadism,"['gonadotropic deficiency', 'isolated congenital gonadotropin deficiency', 'isolated gonadotropin-releasing hormone deficiency']" +"""GARD:0020644""",neonatal iodine exposure,[] +"""GARD:0020645""",transient congenital hypothyroidism due to maternal factor,[] +"""GARD:0020646""",transient congenital hypothyroidism due to neonatal factor,[] +"""GARD:0020647""",progressive supranuclear palsy-pure akinesia with gait freezing syndrome,"['psp-pagf', 'psp-pure akinesia with gait freezing']" +"""GARD:0020648""",progressive supranuclear palsy-corticobasal syndrome,"['psp-cbs', 'psp-corticobasal syndrome']" +"""GARD:0020649""",progressive supranuclear palsy-progressive non-fluent aphasia syndrome,"['psp-aos', 'psp-pnfa', 'progressive supranuclear palsy-apraxia of speech syndrome']" +"""GARD:0020650""",syndromic obesity,[] +"""GARD:0020651""",de novo thrombotic microangiopathy after kidney transplantation,[] +"""GARD:0020652""",biliary atresia with splenic malformation syndrome,['basm syndrome'] +"""GARD:0020653""",infantile mercury poisoning,"['erythroedema polyneuritis', 'feer disease', 'infantile acrodynia', 'infantile mercury intoxication', 'pink disease', 'swift disease', 'swift-feer disease']" +"""GARD:0020654""",sporadic adult-onset ataxia of unknown etiology,"['idiopathic late-onset cerebellar ataxia', 'saoa']" +"""GARD:0020655""",non-hereditary degenerative ataxia,[] +"""GARD:0020656""",acquired ataxia,[] +"""GARD:0020657""",inhalational anthrax,"['inhalation anthrax disease', 'pulmonary anthrax', 'respiratory anthrax', 'respiratory anthrax disease']" +"""GARD:0020658""",autosomal recessive secondary polycythemia not associated with vhl gene,"['autosomal recessive secondary erythrocytosis not associated with vhl gene', 'autosomal recessive secondary erythrocytosis; non-chuvash type', 'autosomal recessive secondary polycythemia; non-chuvash type']" +"""GARD:0020659""",acute neonatal citrullinemia type i,"['acute neonatal citrullinemia type 1', 'classic citrullinemia type 1', 'classic citrullinemia type i']" +"""GARD:0020660""",adult-onset citrullinemia type i,"['adult-onset citrullinemia type 1', 'late-onset citrullinemia type 1', 'late-onset citrullinemia type i']" +"""GARD:0020661""",citrin deficiency,[] +"""GARD:0020662""",prenatal benign hypophosphatasia,"['prenatal benign rathbun disease', 'prenatal benign phosphoethanolaminuria']" +"""GARD:0020663""",inflammatory myopathy with abundant macrophages,['imam'] +"""GARD:0020664""",idiopathic eosinophilic myositis,['idiopathic eosinophilia-associated myopathy'] +"""GARD:0020665""",x-linked cerebellar ataxia,[] +"""GARD:0020666""",autosomal recessive ataxia due to pex10 deficiency,['mild peroxisomal disorder due to pex10 deficiency'] +"""GARD:0020667""",primary hypertrophic osteoarthropathy,"['idiopathic hypertrophic osteoarthropathy', 'pho']" +"""GARD:0020668""",rare deficiency anemia,[] +"""GARD:0020669""",constitutional deficiency anemia,[] +"""GARD:0020670""",rare acquired deficiency anemia,[] +"""GARD:0020671""",rare hemorrhagic disorder,['rare bleeding disorder'] +"""GARD:0020672""",rare hemorrhagic disorder due to a coagulation factors defect,"['rare bleeding disorder due to a coagulation factors defect', 'rare coagulopathy due to a coagulation factor defect']" +"""GARD:0020673""",rare hemorrhagic disorder due to a platelet anomaly,"['rare bleeding disorder due to a platelet anomaly', 'rare bleeding disorder due to a thrombopathy and/or thrombocytopenia', 'rare coagulopathy due to a platelet anomaly', 'rare coagulopathy due to a thrombopathy and/or thrombocytopenia', 'rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia']" +"""GARD:0020674""",isolated delta-storage pool disease,"['isolated delta-spd', 'isolated dense-spd', 'isolated dense-storage pool disease']" +"""GARD:0020675""",rare hemorrhagic disorder due to an acquired platelet anomaly,"['rare bleeding disorder due to an acquired platelet anomaly', 'rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia', 'rare coagulopathy due to an acquired platelet anomaly', 'rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia', 'rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia']" +"""GARD:0020676""",rare thrombotic disorder due to a coagulation factors defect,[] +"""GARD:0020677""",rare thrombotic disorder due to a constitutional coagulation factors defect,[] +"""GARD:0020678""",rare thrombotic disorder due to an acquired coagulation factors defect,[] +"""GARD:0020679""",rare thrombotic disorder due to a platelet anomaly,[] +"""GARD:0020680""",rare thrombotic disorder due to a constitutional platelet anomaly,[] +"""GARD:0020681""",rare thrombotic disorder due to an acquired platelet anomaly,[] +"""GARD:0020682""",genetic polycythemia,[] +"""GARD:0020683""",serpinopathy,[] +"""GARD:0020684""",serpinopathy with toxic serpin polymerization,[] +"""GARD:0020685""",serpinopathy with loss of serpin function,[] +"""GARD:0020686""",autosomal dominant optic atrophy and peripheral neuropathy,[] +"""GARD:0020687""",polymicrogyria with optic nerve hypoplasia,[] +"""GARD:0020688""",paternal uniparental disomy of chromosome 1,['upd(1)pat'] +"""GARD:0020689""",maternal uniparental disomy of chromosome 1,['upd(1)mat'] +"""GARD:0020690""",2q31.1 microdeletion syndrome,"['del(2)(q31.1)', 'monosomy 2q31.1']" +"""GARD:0020691""",6p22 microdeletion syndrome,"['del(6)(p22)', 'monosomy 6p22']" +"""GARD:0020692""",7q31 microdeletion syndrome,"['del(7)(q31)', 'monosomy 7q31']" +"""GARD:0020693""",8p11.2 deletion syndrome,"['del(8)(p11.2)', 'monosomy 8p11.2']" +"""GARD:0020694""",infantile onset panniculitis with uveitis and systemic granulomatosis,[] +"""GARD:0020695""",idiopathic recurrent pericarditis,['idiopathic relapsing pericarditis'] +"""GARD:0020696""",overlapping connective tissue disease,[] +"""GARD:0020697""",drug-induced vasculitis,[] +"""GARD:0020698""",unclassified vasculitis,[] +"""GARD:0020699""",unexplained long-lasting fever/inflammatory syndrome,['persistent fever/inflammation of unknown origin'] +"""GARD:0020700""",sickle cell-hemoglobin e disease syndrome,['hbse disease'] +"""GARD:0020701""",toxic or drug-related embryofetopathy,[] +"""GARD:0020702""",maternal disease-related embryofetopathy,[] +"""GARD:0020703""",rare tumor of neuroepithelial tissue,[] +"""GARD:0020704""",high-grade astrocytoma,[] +"""GARD:0020705""",giant cell glioblastoma,[] +"""GARD:0020706""",low-grade astrocytoma,[] +"""GARD:0020707""",protoplasmic astrocytoma,[] +"""GARD:0020708""",fibrillary astrocytoma,[] +"""GARD:0020709""",gemistocytic astrocytoma,[] +"""GARD:0020710""",pilomyxoid astrocytoma,[] +"""GARD:0020711""",pituicytoma,[] +"""GARD:0020712""",oligoastrocytic tumor,['mixed oligodendroglial and astrocytic tumor'] +"""GARD:0020713""",glial tumor of neuroepithelial tissue with unknown origin,[] +"""GARD:0020714""",angiocentric glioma,[] +"""GARD:0020715""",chordoid glioma,[] +"""GARD:0020716""",embryonal tumor of neuroepithelial tissue,[] +"""GARD:0020717""",anaplastic/large cell medulloblastoma,[] +"""GARD:0020718""",central nervous system embryonal tumor,"['cns pnet', 'central nervous system primitive neuroectodermal tumor']" +"""GARD:0020719""",ganglioneuroblastoma,[] +"""GARD:0020720""",ependymoblastoma,[] +"""GARD:0020721""",medulloepithelioma of the central nervous system,[] +"""GARD:0020722""",choroid plexus tumor,[] +"""GARD:0020723""",atypical papilloma of choroid plexus,"['atypical cpp', 'atypical choroid plexus papilloma']" +"""GARD:0020724""",pineal tumor of neuroepithelial tissue,[] +"""GARD:0020725""",papillary tumor of the pineal region,['ptpr'] +"""GARD:0020726""",neuronal tumor,[] +"""GARD:0020727""",extraventricular neurocytoma,['evn'] +"""GARD:0020728""",mixed neuronal-glial tumor,[] +"""GARD:0020729""",desmoplastic infantile astrocytoma/ganglioglioma,['dia/dig'] +"""GARD:0020730""",papillary glioneuronal tumor,"['pgnt', 'pseudopapillary ganglioglioneurocytoma', 'pseudopapillary neurocytoma with glial differentiation']" +"""GARD:0020731""",ganglioneuroma,[] +"""GARD:0020732""",primary germ cell tumor of central nervous system,['primary germ cell tumor of cns'] +"""GARD:0020733""",yolk sac tumor of central nervous system,"['endodermal sinus tumor of cns', 'endodermal sinus tumor of central nervous system', 'intracranial endodermal sinus tumor', 'intracranial yolk sac tumor', 'yolk sac tumor of cns']" +"""GARD:0020734""",choriocarcinoma of the central nervous system,[] +"""GARD:0020735""",teratoma of the central nervous system,[] +"""GARD:0020736""",mixed germ cell tumor of central nervous system,['mixed germ cell tumor of cns'] +"""GARD:0020737""",tumor of meninges,[] +"""GARD:0020738""",primary melanocytic tumor of central nervous system,"['primary melanocytic lesion of cns', 'primary melanocytic lesion of central nervous system', 'primary melanocytic tumor of cns']" +"""GARD:0020739""",diffuse leptomeningeal melanocytosis,"['dlm', 'leptomeningeal melanomatosis']" +"""GARD:0020740""",meningeal melanocytoma,[] +"""GARD:0020741""",malignant peripheral nerve sheath tumor with perineurial differentiation,['malignant perineurioma'] +"""GARD:0020742""",inherited nervous system cancer-predisposing syndrome,[] +"""GARD:0020743""",malignant triton tumor,"['mpnst with rhabdomyosarcomatous differentiation', 'mtt', 'malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation']" +"""GARD:0020744""",rare cutaneous lichen planus,['rare cutaneous lp'] +"""GARD:0020745""",rare mucosal lichen planus,['rare mucosal lp'] +"""GARD:0020746""",inhalational botulism,['inhalation botulism'] +"""GARD:0020747""",iatrogenic botulism,['inadvertent botulism'] +"""GARD:0020748""",gestational trophoblastic disease,[] +"""GARD:0020749""",partial hydatidiform mole,"['incomplete hydatidiform mole', 'incomplete molar pregnancy', 'partial molar pregnancy']" +"""GARD:0020750""",epithelioid trophoblastic tumor,[] +"""GARD:0020751""",genetic hyperferritinemia without iron overload,['benign hyperferritinemia'] +"""GARD:0020752""",pyruvate metabolism disorder,[] +"""GARD:0020753""",tricarboxylic acid cycle disorder,"['citric acid cycle disorder', 'krebs cycle disorder', 'tca cycle disorder']" +"""GARD:0020754""",mitochondrial oxidative phosphorylation disorder due to mitochondrial dna anomalies,"['mitochondrial oxidative phosphorylation disorder due to mtdna anomalies', 'oxphos disease due to mitochondrial dna anomalies', 'oxphos disease due to mtdna anomalies']" +"""GARD:0020755""",mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial dna,"['mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtdna', 'oxphos disease due to a large-scale single deletion of mitochondrial dna', 'oxphos disease due to a large-scale single deletion of mtdna']" +"""GARD:0020756""",mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial dna,"['mitochondrial oxidative phosphorylation disorder due to a point mutation of mtdna', 'oxphos disease due to a point mutation of mitochondrial dna', 'oxphos disease due to a point mutation of mtdna']" +"""GARD:0020757""",mitochondrial dna-related mitochondrial myopathy,"['maternally-inherited mitochondrial myopathy', 'mtdna-related mitochondrial myopathy']" +"""GARD:0020758""",multiple mitochondrial dna deletion syndrome,['multiple mtdna deletion syndrome'] +"""GARD:0020759""",ataxia neuropathy spectrum,[] +"""GARD:0020760""",mitochondrial oxidative phosphorylation disorder with no known mechanism,['oxphos disease with no known mechanism'] +"""GARD:0020761""",mitochondrial membrane transport disorder,[] +"""GARD:0020762""",mitochondrial substrate carrier disorder,[] +"""GARD:0020763""",mitochondrial protein import disorder,[] +"""GARD:0020764""",unspecified mitochondrial disorder,[] +"""GARD:0020765""",exercise intolerance with lactic acidosis,[] +"""GARD:0020766""",isolated oxidative phosphorylation complex disorder,['isolated respiratory chain complex disorder'] +"""GARD:0020767""",mitochondrial dna-related dystonia,"['maternally-inherited mitochondrial dystonia', 'mtdna-related dystonia']" +"""GARD:0020768""",pure mitochondrial myopathy,[] +"""GARD:0020769""","mitochondrial dna depletion syndrome, hepatocerebral form","['deoxyguanosine kinase deficiency', 'mtdna depletion syndrome; hepatocerebral form']" +"""GARD:0020770""",distal 7q11.23 microduplication syndrome,"['distal dup(7)(q11.23)', 'distal trisomy 7q11.23', 'dup7q11.23d']" +"""GARD:0020771""",foxg1 syndrome due to 14q12 microdeletion,"['del(14)(q12)', 'monosomy 14q12']" +"""GARD:0020772""",16p11.2p12.2 microduplication syndrome,"['dup(16)(p11.2p12.2)', 'trisomy 16p11.2p12.2']" +"""GARD:0020773""",14q11.2 microduplication syndrome,"['dup(14)(q11.2)', 'trisomy 14q11.2']" +"""GARD:0020774""",16p13.11 microdeletion syndrome,"['del(16)(p13.11)', 'monosomy 16p13.11']" +"""GARD:0020775""",16p13.11 microduplication syndrome,"['dup(16)(p13.11)', 'trisomy 16p13.11']" +"""GARD:0020776""",distal 17p13.3 microdeletion syndrome,"['distal del(17)(p13.3 )', 'distal monosomy 17p13.3']" +"""GARD:0020777""",paternal 20q13.2q13.3 microdeletion syndrome,"['paternal del(20)(q13.2q13.3)', 'paternal monosomy 20q13.2q13.3']" +"""GARD:0020778""",20q13.33 microdeletion syndrome,"['del(20)(q13.33)', 'monosomy 20q13.33']" +"""GARD:0020779""",21q22.11q22.12 microdeletion syndrome,"['del(21)(q22.11q22.12)', 'monosomy 21q22.11q22.12']" +"""GARD:0020780""",distal 22q11.2 microduplication syndrome,"['distal dup(22)(q11.2)', 'distal trisomy 22q11.2']" +"""GARD:0020781""",trisomy 1q,['duplication 1q'] +"""GARD:0020782""",atypical norrie disease due to xp11.3 microdeletion,"['atypical norrie disease due to del(x)(p11.3)', 'atypical norrie disease due to nullisomy xp11.3']" +"""GARD:0020783""",maternal uniparental disomy of chromosome x,['upd(x)mat'] +"""GARD:0020784""",paternal uniparental disomy of chromosome x,['upd(x)pat'] +"""GARD:0020785""",ring chromosome y syndrome,"['ring chromosome y', 'r(y)']" +"""GARD:0020786""",familial adenomatous polyposis due to 5q22.2 microdeletion,"['colorectal adenomatous polyposis due to monosomy 5q22.2', 'fap due to monosomy 5q22.2', 'familial adenomatous polyposis due to del(5)(q22.2)', 'familial adenomatous polyposis due to monosomy 5q22.2', 'familial polyposis coli due to monosomy 5q22.2']" +"""GARD:0020787""",okihiro syndrome due to 20q13 microdeletion,"['duane-radial ray syndrome due to monosomy 20q13', 'okihiro syndrome due to del(20)(q13)', 'okihiro syndrome due to monosomy 20q13']" +"""GARD:0020788""",okihiro syndrome due to a point mutation,['duane-radial ray syndrome due to a point mutation'] +"""GARD:0020789""",partial deletion of chromosome 1,['partial monosomy of chromosome 1'] +"""GARD:0020790""",partial deletion of chromosome 2,['partial monosomy of chromosome 2'] +"""GARD:0020791""",partial deletion of chromosome 3,['partial monosomy of chromosome 3'] +"""GARD:0020792""",partial deletion of chromosome 4,['partial monosomy of chromosome 4'] +"""GARD:0020793""",partial deletion of chromosome 5,['partial monosomy of chromosome 5'] +"""GARD:0020794""",partial deletion of chromosome 6,['partial monosomy of chromosome 6'] +"""GARD:0020795""",partial deletion of chromosome 7,['partial monosomy of chromosome 7'] +"""GARD:0020796""",partial deletion of chromosome 8,['partial monosomy of chromosome 8'] +"""GARD:0020797""",partial deletion of chromosome 9,['partial monosomy of chromosome 9'] +"""GARD:0020798""",partial deletion of chromosome 10,['partial monosomy of chromosome 10'] +"""GARD:0020799""",partial deletion of chromosome 11,['partial monosomy of chromosome 11'] +"""GARD:0020800""",partial deletion of the long arm of chromosome 12,"['partial deletion of chromosome 12q', 'partial monosomy of chromosome 12q', 'partial monosomy of the long arm of chromosome 12']" +"""GARD:0020801""",partial deletion of chromosome 16,['partial monosomy of chromosome 16'] +"""GARD:0020802""",partial deletion of chromosome 17,['partial monosomy of chromosome 17'] +"""GARD:0020803""",partial deletion of chromosome 18,['partial monosomy of chromosome 18'] +"""GARD:0020804""",partial deletion of chromosome 19,['partial monosomy of chromosome 19'] +"""GARD:0020805""",partial deletion of chromosome 20,['partial monosomy of chromosome 20'] +"""GARD:0020806""",partial deletion of the short arm of chromosome 1,"['partial deletion of chromosome 1p', 'partial monosomy of chromosome 1p', 'partial monosomy of the short arm of chromosome 1']" +"""GARD:0020807""",partial deletion of the short arm of chromosome 2,"['partial deletion of chromosome 2p', 'partial monosomy of chromosome 2p', 'partial monosomy of the short arm of chromosome 2']" +"""GARD:0020808""",partial deletion of the short arm of chromosome 4,"['partial deletion of chromosome 4p', 'partial monosomy of chromosome 4p', 'partial monosomy of the short arm of chromosome 4']" +"""GARD:0020809""",partial deletion of the short arm of chromosome 5,"['partial deletion of chromosome 5p', 'partial monosomy of chromosome 5p', 'partial monosomy of the short arm of chromosome 5']" +"""GARD:0020810""",partial deletion of the short arm of chromosome 6,"['partial deletion of chromosome 6p', 'partial monosomy of chromosome 6p', 'partial monosomy of the short arm of chromosome 6']" +"""GARD:0020811""",partial deletion of the short arm of chromosome 7,"['partial deletion of chromosome 7p', 'partial monosomy of chromosome 7p', 'partial monosomy of the short arm of chromosome 7']" +"""GARD:0020812""",partial deletion of the short arm of chromosome 8,"['partial deletion of chromosome 8p', 'partial monosomy of chromosome 8p', 'partial monosomy of the short arm of chromosome 8']" +"""GARD:0020813""",partial deletion of the short arm of chromosome 9,"['partial deletion of chromosome 9p', 'partial monosomy of chromosome 9p', 'partial monosomy of the short arm of chromosome 9']" +"""GARD:0020814""",partial deletion of the short arm of chromosome 10,"['partial deletion of chromosome 10p', 'partial monosomy of chromosome 10p', 'partial monosomy of the short arm of chromosome 10']" +"""GARD:0020815""",partial deletion of the short arm of chromosome 11,"['partial deletion of chromosome 11p', 'partial monosomy of chromosome 11p', 'partial monosomy of the short arm of chromosome 11']" +"""GARD:0020816""",partial deletion of the short arm of chromosome 16,"['partial deletion of chromosome 16p', 'partial monosomy of chromosome 16p', 'partial monosomy of the short arm of chromosome 16']" +"""GARD:0020817""",partial monosomy of the short arm of chromosome 17,"['partial deletion of chromosome 17p', 'partial deletion of the short arm of chromosome 17', 'partial monosomy of chromosome 17p']" +"""GARD:0020818""",partial deletion of the short arm of chromosome 18,"['partial deletion of chromosome 18p', 'partial monosomy of chromosome 18p', 'partial monosomy of the short arm of chromosome 18']" +"""GARD:0020819""",partial deletion of the short arm of chromosome 19,"['partial deletion of chromosome 19p', 'partial monosomy of chromosome 19p', 'partial monosomy of the short arm of chromosome 19']" +"""GARD:0020820""",partial monosomy of the short arm of chromosome 20,"['partial deletion of chromosome 20p', 'partial deletion of the short arm of chromosome 20', 'partial monosomy of chromosome 20p', 'pure partial 20p deletion']" +"""GARD:0020821""",partial deletion of the long arm of chromosome 1,"['partial deletion of chromosome 1q', 'partial monosomy of chromosome 1q', 'partial monosomy of the long arm of chromosome 1']" +"""GARD:0020822""",partial deletion of the long arm of chromosome 2,"['partial deletion of chromosome 2q', 'partial monosomy of chromosome 2q', 'partial monosomy of the long arm of chromosome 2']" +"""GARD:0020823""",partial deletion of the long arm of chromosome 3,"['partial deletion of chromosome 3q', 'partial monosomy of chromosome 3q', 'partial monosomy of the long arm of chromosome 3']" +"""GARD:0020824""",partial deletion of the long arm of chromosome 4,"['partial deletion of chromosome 4q', 'partial monosomy of chromosome 4q', 'partial monosomy of the long arm of chromosome 4']" +"""GARD:0020825""",partial deletion of the long arm of chromosome 5,"['partial deletion of chromosome 5q', 'partial monosomy of chromosome 5q', 'partial monosomy of the long arm of chromosome 5']" +"""GARD:0020826""",partial deletion of the long arm of chromosome 6,"['partial deletion of chromosome 6q', 'partial monosomy of chromosome 6q', 'partial monosomy of the long arm of chromosome 6']" +"""GARD:0020827""",partial deletion of the long arm of chromosome 7,"['partial deletion of chromosome 7q', 'partial monosomy of chromosome 7q', 'partial monosomy of the long arm of chromosome 7']" +"""GARD:0020828""",partial deletion of the long arm of chromosome 8,"['partial deletion of chromosome 8q', 'partial monosomy of chromosome 8q', 'partial monosomy of the long arm of chromosome 8']" +"""GARD:0020829""",partial monosomy of the long arm of chromosome 9,"['partial deletion of chromosome 9q', 'partial deletion of the long arm of chromosome 9', 'partial monosomy of chromosome 9q']" +"""GARD:0020830""",partial monosomy of the long arm of chromosome 10,"['partial deletion of chromosome 10q', 'partial deletion of the long arm of chromosome 10', 'partial monosomy of chromosome 10q']" +"""GARD:0020831""",partial deletion of the long arm of chromosome 11,"['partial deletion of chromosome 11q', 'partial monosomy of chromosome 11q', 'partial monosomy of the long arm of chromosome 11']" +"""GARD:0020832""",partial deletion of the long arm of chromosome 13,"['partial deletion of chromosome 13q', 'partial monosomy of chromosome 13q', 'partial monosomy of the long arm of chromosome 13']" +"""GARD:0020833""",partial deletion of the long arm of chromosome 14,"['partial deletion of chromosome 14q', 'partial monosomy of chromosome 14q', 'partial monosomy of the long arm of chromosome 14']" +"""GARD:0020834""",partial deletion of the long arm of chromosome 15,"['partial deletion of chromosome 15q', 'partial monosomy of chromosome 15q', 'partial monosomy of the long arm of chromosome 15']" +"""GARD:0020835""",partial deletion of the long arm of chromosome 16,"['partial deletion of chromosome 16q', 'partial monosomy of chromosome 16q', 'partial monosomy of the long arm of chromosome 16']" +"""GARD:0020836""",partial deletion of the long arm of chromosome 17,"['partial deletion of chromosome 17q', 'partial monosomy of chromosome 17q', 'partial monosomy of the long arm of chromosome 17']" +"""GARD:0020837""",partial deletion of the long arm of chromosome 18,"['partial deletion of chromosome 18q', 'partial monosomy of chromosome 18q', 'partial monosomy of the long arm of chromosome 18']" +"""GARD:0020838""",partial deletion of the long arm of chromosome 19,"['partial deletion of chromosome 19q', 'partial monosomy of chromosome 19q', 'partial monosomy of the long arm of chromosome 19']" +"""GARD:0020839""",partial deletion of the long arm of chromosome 20,"['partial deletion of chromosome 20q', 'partial monosomy of chromosome 20q', 'partial monosomy of the long arm of chromosome 20']" +"""GARD:0020840""",partial deletion of the long arm of chromosome 21,"['partial deletion of chromosome 21q', 'partial monosomy of chromosome 21q', 'partial monosomy of the long arm of chromosome 21']" +"""GARD:0020841""",partial deletion of the long arm of chromosome 22,"['partial deletion of chromosome 22q', 'partial monosomy of chromosome 22q', 'partial monosomy of the long arm of chromosome 22']" +"""GARD:0020842""",partial duplication of chromosome 1,['partial trisomy of chromosome 1'] +"""GARD:0020843""",partial duplication of chromosome 2,['partial trisomy of chromosome 2'] +"""GARD:0020844""",partial duplication of chromosome 3,['partial trisomy of chromosome 3'] +"""GARD:0020845""",partial duplication of chromosome 4,['partial trisomy of chromosome 4'] +"""GARD:0020846""",partial trisomy/tetrasomy of chromosome 5,['partial duplication/triplication of chromosome 5'] +"""GARD:0020847""",partial duplication of chromosome 6,['partial trisomy of chromosome 6'] +"""GARD:0020848""",partial duplication of chromosome 7,['partial trisomy of chromosome 7'] +"""GARD:0020849""",partial duplication of chromosome 8,['partial trisomy of chromosome 8'] +"""GARD:0020850""",partial trisomy/tetrasomy of chromosome 9,['partial duplication/triplication of chromosome 9'] +"""GARD:0020851""",partial duplication of chromosome 10,['partial trisomy of chromosome 10'] +"""GARD:0020852""",partial duplication of chromosome 11,['partial trisomy of chromosome 11'] +"""GARD:0020853""",partial trisomy/tetrasomy of the short arm of chromosome 12,"['partial duplication/triplication of chromosome 12p', 'partial duplication/triplication of the short arm of chromosome 12', 'partial trisomy/tetrasomy of chromosome 12p']" +"""GARD:0020854""",partial duplication of chromosome 16,['partial trisomy of chromosome 16'] +"""GARD:0020855""",partial duplication of chromosome 17,['partial trisomy of chromosome 17'] +"""GARD:0020856""",partial trisomy/tetrasomy of chromosome 18,['partial duplication/triplication of chromosome 18'] +"""GARD:0020857""",partial duplication of chromosome 19,['partial trisomy of chromosome 19'] +"""GARD:0020858""",partial trisomy of chromosome 20,['partial duplication of chromosome 20'] +"""GARD:0020859""",partial duplication of the short arm of chromosome 2,"['partial duplication of chromosome 2p', 'partial trisomy of chromosome 2p']" +"""GARD:0020860""",partial duplication of the short arm of chromosome 3,"['partial duplication of chromosome 3p', 'partial trisomy of chromosome 3p', 'partial trisomy of the short arm of chromosome 3']" +"""GARD:0020861""",partial duplication of the short arm of chromosome 4,"['partial duplication of chromosome 4p', 'partial trisomy of chromosome 4p', 'partial trisomy of the short arm of chromosome 4']" +"""GARD:0020862""",partial trisomy/tetrasomy of the short arm of chromosome 5,"['partial duplication/triplication of chromosome 5p', 'partial duplication/triplication of the short arm of chromosome 5', 'partial trisomy/tetrasomy of chromosome 5p']" +"""GARD:0020863""",partial duplication of the short arm of chromosome 6,"['partial duplication of chromosome 6p', 'partial trisomy of chromosome 6p', 'partial trisomy of the short arm of chromosome 6']" +"""GARD:0020864""",partial duplication of the short arm of chromosome 7,"['partial duplication of chromosome 7p', 'partial trisomy of chromosome 7p', 'partial trisomy of the short arm of chromosome 7']" +"""GARD:0020865""",partial duplication of the short arm of chromosome 8,"['partial duplication of chromosome 8p', 'partial trisomy of chromosome 8p', 'partial trisomy of the short arm of chromosome 8']" +"""GARD:0020866""",partial trisomy/tetrasomy of the short arm of chromosome 9,"['partial duplication of chromosome 9p', 'partial duplication of the short arm of chromosome 9', 'partial trisomy of chromosome 9p']" +"""GARD:0020867""",partial duplication of the short arm of chromosome 10,"['partial duplication of chromosome 10p', 'partial trisomy of chromosome 10p', 'partial trisomy of the short arm of chromosome 10']" +"""GARD:0020868""",partial duplication of the short arm of chromosome 11,"['partial duplication of chromosome 11p', 'partial trisomy of chromosome 11p', 'partial trisomy of the short arm of chromosome 11']" +"""GARD:0020869""",partial duplication of the short arm of chromosome 16,"['partial duplication of chromosome 16p', 'partial trisomy of chromosome 16p', 'partial trisomy of the short arm of chromosome 16']" +"""GARD:0020870""",partial duplication of the short arm of chromosome 17,"['partial duplication of chromosome 17p', 'partial trisomy of chromosome 17p', 'partial trisomy of the short arm of chromosome 17']" +"""GARD:0020871""",partial trisomy/tetrasomy of the short arm of chromosome 18,"['partial duplication/triplication of chromosome 18p', 'partial duplication/triplication of the short arm of chromosome 18', 'partial trisomy/tetrasomy of chromosome 18p']" +"""GARD:0020872""",partial duplication of the long arm of chromosome 1,"['partial duplication of chromosome 1q', 'partial trisomy of chromosome 1q', 'partial trisomy of the long arm of chromosome 1']" +"""GARD:0020873""",partial duplication of the long arm of chromosome 2,"['partial duplication of chromosome 2q', 'partial trisomy of chromosome 2q', 'partial trisomy of the long arm of chromosome 2']" +"""GARD:0020874""",partial duplication of the long arm of chromosome 3,"['partial duplication of chromosome 3q', 'partial trisomy of chromosome 3q']" +"""GARD:0020875""",partial duplication of the long arm of chromosome 4,"['partial duplication of chromosome 4q', 'partial trisomy of chromosome 4q', 'partial trisomy of the long arm of chromosome 4']" +"""GARD:0020876""",partial trisomy of the long arm of chromosome 5,"['partial duplication of chromosome 5q', 'partial duplication of the long arm of chromosome 5', 'partial trisomy of chromosome 5q']" +"""GARD:0020877""",partial duplication of the long arm of chromosome 6,"['partial duplication of chromosome 6q', 'partial trisomy of chromosome 6q', 'partial trisomy of the long arm of chromosome 6']" +"""GARD:0020878""",partial duplication of the long arm of chromosome 7,"['partial duplication of chromosome 7q', 'partial trisomy of chromosome 7q', 'partial trisomy of the long arm of chromosome 7']" +"""GARD:0020879""",partial duplication of the long arm of chromosome 8,"['partial duplication of chromosome 8q', 'partial trisomy of chromosome 8q', 'partial trisomy of the long arm of chromosome 8']" +"""GARD:0020880""",partial trisomy of the long arm of chromosome 9,"['partial duplication of chromosome 9q', 'partial duplication of the long arm of chromosome 9', 'partial trisomy of chromosome 9q']" +"""GARD:0020881""",partial duplication of the long arm of chromosome 10,"['partial duplication of chromosome 10q', 'partial trisomy of chromosome 10q', 'partial trisomy of the long arm of chromosome 10']" +"""GARD:0020882""",partial duplication of the long arm of chromosome 11,"['partial duplication of chromosome 11q', 'partial trisomy of chromosome 11q', 'partial trisomy of the long arm of chromosome 11']" +"""GARD:0020883""",partial duplication of the long arm of chromosome 13,"['partial duplication of chromosome 13q', 'partial trisomy of chromosome 13q', 'partial trisomy of the long arm of chromosome 13']" +"""GARD:0020884""",partial duplication of the long arm of chromosome 14,"['partial duplication of chromosome 14q', 'partial trisomy of chromosome 14q', 'partial trisomy of the long arm of chromosome 14']" +"""GARD:0020885""",partial duplication of the long arm of chromosome 15,"['partial duplication of chromosome 15q', 'partial trisomy of chromosome 15q', 'partial trisomy of the long arm of chromosome 15']" +"""GARD:0020886""",partial trisomy of the long arm of chromosome 16,"['partial duplication of chromosome 16q', 'partial duplication of the long arm of chromosome 16', 'partial trisomy of chromosome 16q']" +"""GARD:0020887""",partial duplication of the long arm of chromosome 17,"['partial duplication of chromosome 17q', 'partial trisomy of chromosome 17q', 'partial trisomy of the long arm of chromosome 17']" +"""GARD:0020888""",partial trisomy of the long arm of chromosome 18,"['partial duplication of chromosome 18q', 'partial duplication of the long arm of chromosome 18', 'partial trisomy of chromosome 18q']" +"""GARD:0020889""",partial duplication of the long arm of chromosome 19,"['partial duplication of chromosome 19q', 'partial trisomy of chromosome 19q', 'partial trisomy of the long arm of chromosome 19']" +"""GARD:0020890""",partial trisomy of the long arm of chromosome 20,"['partial duplication of chromosome 20q', 'partial duplication of the long arm of chromosome 20', 'partial trisomy of chromosome 20q']" +"""GARD:0020891""",partial duplication of the long arm of chromosome 22,"['partial duplication of chromosome 22q', 'partial trisomy of chromosome 22q', 'partial trisomy of the long arm of chromosome 22']" +"""GARD:0020892""",thymoma type a,"['primary thymic epithelial neoplasm type a', 'primary thymic epithelial tumor type a']" +"""GARD:0020893""",thymoma type b,"['primary thymic epithelial neoplasm type b', 'primary thymic epithelial tumor type b']" +"""GARD:0020894""",thymoma type ab,"['primary thymic epithelial neoplasm type ab', 'primary thymic epithelial tumor type ab']" +"""GARD:0020895""",well-differentiated thymic neuroendocrine carcinoma,[] +"""GARD:0020896""",moderately-differentiated thymic neuroendocrine carcinoma,[] +"""GARD:0020897""",poorly differentiated thymic neuroendocrine carcinoma,[] +"""GARD:0020898""",postcardiotomy right ventricular failure,[] +"""GARD:0020899""",infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,[] +"""GARD:0020900""",angiosarcoma,[] +"""GARD:0020901""",nevus of ota,['nevus fusculoceruleus ophthalmomaxillaris'] +"""GARD:0020902""",congenital smooth muscle hamartoma,[] +"""GARD:0020903""",hyperinsulinism due to hnf4a deficiency,['hyperinsulinemic hypoglycemia due to hnf4a deficiency'] +"""GARD:0020904""",peeling skin syndrome type c,"['generalized deciduous skin type c', 'generalized peeling skin syndrome type c']" +"""GARD:0020905""",nk-cell enteropathy,[] +"""GARD:0020906""",complex chromosomal rearrangement,[] +"""GARD:0020907""",x chromosome number anomaly,[] +"""GARD:0020908""",x chromosome number anomaly with female phenotype,[] +"""GARD:0020909""",x chromosome number anomaly with male phenotype,[] +"""GARD:0020910""",polysomy of x chromosome,[] +"""GARD:0020911""",partial deletion of chromosome x,['partial monosomy of chromosome x'] +"""GARD:0020912""",partial monosomy of the short arm of chromosome x,"['partial deletion of chromosome xp', 'partial deletion of the short arm of chromosome x', 'partial monosomy of chromosome xp']" +"""GARD:0020913""",y chromosome number anomaly,[] +"""GARD:0020914""",x and y chromosomal anomaly,[] +"""GARD:0020915""",partial deletion of the long arm of chromosome x,"['partial deletion of chromosome xq', 'partial monosomy of chromosome xq', 'partial monosomy of the long arm of chromosome x']" +"""GARD:0020916""",partial duplication of chromosome x,['partial trisomy of chromosome x'] +"""GARD:0020917""",partial duplication of the long arm of chromosome x,"['partial duplication of chromosome xq', 'partial trisomy of chromosome xq', 'partial trisomy of the long arm of chromosome x']" +"""GARD:0020918""",uniparental disomy of chromosome x,['upd(x)'] +"""GARD:0020919""",partial duplication of the short arm of chromosome 1,"['partial duplication of chromosome 1p', 'partial trisomy of chromosome 1p']" +"""GARD:0020920""",trisomy 8p,['duplication 8p'] +"""GARD:0020921""",interstitial lung disease specific to childhood,['ild specific to childhood'] +"""GARD:0020922""",primary interstitial lung disease specific to childhood due to alveolar structure disorder,['primary ild specific to childhood due to alveolar structure disorder'] +"""GARD:0020923""",primary interstitial lung disease specific to childhood due to alveolar vascular disorder,['primary ild specific to childhood due to alveolar vascular disorder'] +"""GARD:0020924""",isolated pulmonary capillaritis,[] +"""GARD:0020925""",interstitial lung disease specific to infancy,['ild specific to infancy'] +"""GARD:0020926""",secondary interstitial lung disease specific to childhood associated with a systemic disease,['secondary ild specific to childhood associated with a systemic disease'] +"""GARD:0020927""",secondary interstitial lung disease specific to childhood associated with a connective tissue disease,['secondary ild specific to childhood associated with a connective tissue disease'] +"""GARD:0020928""",secondary interstitial lung disease specific to childhood associated with a systemic vasculitis,['secondary ild specific to childhood associated with a systemic vasculitis'] +"""GARD:0020929""",secondary interstitial lung disease specific to childhood associated with a granulomatous disease,['secondary ild specific to childhood associated with a granulomatous disease'] +"""GARD:0020930""",secondary interstitial lung disease specific to childhood associated with a metabolic disease,['secondary ild specific to childhood associated with a metabolic disease'] +"""GARD:0020931""",interstitial lung disease specific to adulthood,['ild specific to adulthood'] +"""GARD:0020932""",primary interstitial lung disease specific to adulthood,['primary ild specific to adulthood'] +"""GARD:0020933""",secondary interstitial lung disease specific to adulthood associated with a systemic disease,['secondary ild specific to adulthood associated with a systemic disease'] +"""GARD:0020934""",interstitial lung disease in childhood and adulthood,['ild in childhood and adulthood'] +"""GARD:0020935""",primary interstitial lung disease in childhood and adulthood,['primary ild in childhood and adulthood'] +"""GARD:0020936""",primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder,['primary ild in childhood and adulthood due to alveolar structure disorder'] +"""GARD:0020937""",primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder,['primary ild in childhood and adulthood due to alveolar vascular disorder'] +"""GARD:0020938""",secondary interstitial lung disease in childhood and adulthood,['secondary ild in childhood and adulthood'] +"""GARD:0020939""",secondary interstitial lung disease in childhood and adulthood associated with a systemic disease,['secondary ild in childhood and adulthood associated with a systemic disease'] +"""GARD:0020940""",secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease,['secondary ild in childhood and adulthood associated with a metabolic disease'] +"""GARD:0020941""",secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis,['secondary ild in childhood and adulthood associated with a systemic vasculitis'] +"""GARD:0020942""",drug or radiation exposure-related interstitial lung disease,[] +"""GARD:0020943""",exposure-related interstitial lung disease,[] +"""GARD:0020944""",genetic interstitial lung disease,['genetic ild'] +"""GARD:0020945""",intraocular medulloepithelioma,['orbital medulloepithelioma'] +"""GARD:0020946""",mycophenolate mofetil embryopathy,['mmf embryopathy'] +"""GARD:0020947""",dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,"['21q22.13q22.2 microdeletion syndrome', 'del(21)(q22.13q22.2)', 'monosomy 21q22.13q22.2']" +"""GARD:0020948""",complication in hemodialysis,[] +"""GARD:0020949""",open iniencephaly,[] +"""GARD:0020950""",closed iniencephaly,[] +"""GARD:0020951""",spina bifida aperta,[] +"""GARD:0020952""",total spina bifida aperta,[] +"""GARD:0020953""",thoracolumbosacral spina bifida aperta,[] +"""GARD:0020954""",lumbosacral spina bifida aperta,[] +"""GARD:0020955""",cervical spina bifida aperta,[] +"""GARD:0020956""",cervicothoracic spina bifida aperta,[] +"""GARD:0020957""",upper thoracic spina bifida aperta,[] +"""GARD:0020958""",spina bifida cystica,[] +"""GARD:0020959""",total spina bifida cystica,[] +"""GARD:0020960""",thoracolumbosacral spina bifida cystica,[] +"""GARD:0020961""",lumbosacral spina bifida cystica,[] +"""GARD:0020962""",cervical spina bifida cystica,[] +"""GARD:0020963""",cervicothoracic spina bifida cystica,[] +"""GARD:0020964""",upper thoracic spina bifida cystica,[] +"""GARD:0020965""",posterior meningocele,[] +"""GARD:0020966""",myelocystocele,[] +"""GARD:0020967""",cephalocele,[] +"""GARD:0020968""",cranial meningocele,[] +"""GARD:0020969""",occipital encephalocele,[] +"""GARD:0020970""",parietal encephalocele,[] +"""GARD:0020971""",basal encephalocele,[] +"""GARD:0020972""",lipoma associated with neurospinal dysraphism,[] +"""GARD:0020973""",leptomyelolipoma,[] +"""GARD:0020974""","malformation of the neurenteric canal, spinal cord and column",[] +"""GARD:0020975""",neurenteric cyst,[] +"""GARD:0020976""",isolated amyelia,[] +"""GARD:0020977""",isolated megalencephaly,['isolated macrencephaly'] +"""GARD:0020978""",midline cerebral malformation,['midline brain malformation'] +"""GARD:0020979""",isolated arhinencephaly,[] +"""GARD:0020980""",unilateral polymicrogyria,[] +"""GARD:0020981""",unilateral focal polymicrogyria,[] +"""GARD:0020982""",cerebral cortical dysplasia,['brain cortical dysplasia'] +"""GARD:0020983""",isolated focal cortical dysplasia type i,['fcd type i'] +"""GARD:0020984""",isolated focal cortical dysplasia type ia,['fcd type ia'] +"""GARD:0020985""",isolated focal cortical dysplasia type ib,['fcd type ib'] +"""GARD:0020986""",isolated focal cortical dysplasia type ic,['fcd type ic'] +"""GARD:0020987""",encephaloclastic disorder,[] +"""GARD:0020988""",central nervous system cystic malformation,[] +"""GARD:0020989""",glioependymal/ependymal cyst,[] +"""GARD:0020990""",isolated cerebellar vermis agenesis,[] +"""GARD:0020991""",isolated total cerebellar vermis agenesis,[] +"""GARD:0020992""",isolated partial cerebellar vermis agenesis,[] +"""GARD:0020993""",isolated dandy-walker malformation with hydrocephalus,[] +"""GARD:0020994""",isolated dandy-walker malformation without hydrocephalus,[] +"""GARD:0020995""",isolated unilateral hemispheric cerebellar hypoplasia,[] +"""GARD:0020996""",isolated bilateral hemispheric cerebellar hypoplasia,[] +"""GARD:0020997""",global cerebellar malformation,['diffuse cerebellar malformation'] +"""GARD:0020998""",congenital communicating hydrocephalus,['congenital non-obstructive hydrocephalus'] +"""GARD:0020999""",syndrome with a cerebellar malformation as a major feature,[] +"""GARD:0021000""",syndrome with microcephaly as a major feature,[] +"""GARD:0021001""",other syndrome with a central nervous system malformation as a major feature,[] +"""GARD:0021002""",syndrome with a dandy-walker malformation as a major feature,[] +"""GARD:0021003""",genetic non-syndromic central nervous system malformation,[] +"""GARD:0021004""",genetic cerebral malformation,['genetic brain malformation'] +"""GARD:0021005""",genetic posterior fossa malformation,[] +"""GARD:0021006""",genetic cerebellar malformation,[] +"""GARD:0021007""",genetic syndrome with a central nervous system malformation as a major feature,['genetic syndrome with a cns malformation as major feature'] +"""GARD:0021008""",genetic syndrome with a cerebellar malformation as a major feature,[] +"""GARD:0021009""",genetic syndrome with a dandy-walker malformation as a major feature,[] +"""GARD:0021010""",genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature,[] +"""GARD:0021011""",genetic soft tissue tumor,['genetic mesenchymal tumor'] +"""GARD:0021012""",genetic digestive tract tumor,[] +"""GARD:0021013""",genetic cardiac tumor,[] +"""GARD:0021014""",genetic urogenital tumor,[] +"""GARD:0021015""",genetic neuroendocrine tumor,[] +"""GARD:0021016""",genetic cardiac anomaly,[] +"""GARD:0021017""",hereditary attr amyloidosis,"['familial ttr-related amyloidosis', 'familial transthyretin-related amyloidosis']" +"""GARD:0021018""",rare genetic systemic or rheumatologic disease,[] +"""GARD:0021019""",rare hemorrhagic disorder due to a constitutional thrombocytopenia,"['rare bleeding disorder due to a constitutional thrombocytopenia', 'rare bleeding disorder due to a quantitative platelet defect', 'rare coagulopathy due to a constitutional thrombocytopenia', 'rare coagulopathy due to a quantitative platelet defect', 'rare hemorrhagic disorder due to a quantitative platelet defect']" +"""GARD:0021020""",rare hemorrhagic disorder due to a qualitative platelet defect,"['rare bleeding disorder due to a constitutional thrombopathy', 'rare bleeding disorder due to a qualitative platelet defect', 'rare coagulopathy due to a constitutional thrombopathy', 'rare coagulopathy due to a qualitative platelet defect', 'rare hemorrhagic disorder due to a constitutional thrombopathy']" +"""GARD:0021021""",genetic infertility,[] +"""GARD:0021022""",alpha-thalassemia and related disorders,[] +"""GARD:0021023""",beta-thalassemia and related diseases,[] +"""GARD:0021024""",sickle cell disease and related diseases,[] +"""GARD:0021025""",idiopathic pulmonary arterial hypertension,"['ipah', 'primary pulmonary arterial hypertension']" +"""GARD:0021026""",drug- or toxin-induced pulmonary arterial hypertension,['drug- or toxin-induced pah'] +"""GARD:0021027""",pulmonary arterial hypertension associated with another disease,"['pah associated with another disease', 'secondary pah']" +"""GARD:0021028""",pulmonary arterial hypertension associated with connective tissue disease,['pah associated with connective tissue disease'] +"""GARD:0021029""",pulmonary arterial hypertension associated with congenital heart disease,['pah associated with congenital heart disease'] +"""GARD:0021030""",pulmonary arterial hypertension associated with hiv infection,['pah associated with hiv infaction'] +"""GARD:0021031""",pulmonary arterial hypertension associated with portal hypertension,"['pah associated with portal hypertension', 'poph', 'portopulmonary hypertension']" +"""GARD:0021032""",pulmonary arterial hypertension associated with schistosomiasis,['pah associated with schistosomiasis'] +"""GARD:0021033""",pulmonary arterial hypertension associated with chronic hemolytic anemia,['pah associated with chronic hemolytic anemia'] +"""GARD:0021034""",pulmonary hypertension owing to lung disease and/or hypoxia,"['ph due to lung disease and/or hypoxia', 'ph owing to lung disease and/or hypoxia', 'pulmonary hypertension due to lung disease and/or hypoxia']" +"""GARD:0021035""",pulmonary hypertension with unclear multifactorial mechanism,['ph with unclear multifactorial mechanism'] +"""GARD:0021036""",syndrome with pulmonary hypertension as a major feature,[] +"""GARD:0021037""",hemolytic disease due to fetomaternal alloimmunization,"['hdfn', 'hemolytic disease of the fetus and newborn']" +"""GARD:0021038""",hemolytic disease of the newborn with kell alloimmunization,"['anti-k hdn', 'maternal anti-kell alloimmunization']" +"""GARD:0021039""",genetic neurodegenerative disease with dementia,[] +"""GARD:0021040""",genetic frontotemporal degeneration with dementia,[] +"""GARD:0021041""",bile acid coa ligase deficiency and defective amidation,[] +"""GARD:0021042""",rare tumor of salivary glands,[] +"""GARD:0021043""",malignant epithelial tumor of salivary glands,[] +"""GARD:0021044""",multiple endocrine neoplasia,['men'] +"""GARD:0021045""",idiopathic recurrent stupor,[] +"""GARD:0021046""","mucopolysaccharidosis type 6, rapidly progressing","['arylsulfatase b deficiency; rapidly progressing', 'mps6; rapidly progressing', 'mpsvi; rapidly progressing', 'mucopolysaccharidosis type vi; rapidly progressing']" +"""GARD:0021047""","mucopolysaccharidosis type 6, slowly progressing","['arylsulfatase b deficiency; slowly progressing', 'mps6; slowly progressing', 'mpsvi; slowly progressing', 'mucopolysaccharidosis type vi; slowly progressing']" +"""GARD:0021048""",machado-joseph disease type 1,"['sca3; joseph type', 'spinocerebellar ataxia type 3; joseph type']" +"""GARD:0021049""",machado-joseph disease type 2,"['sca3; thomas type', 'spinocerebellar ataxia; thomas type']" +"""GARD:0021050""",machado-joseph disease type 3,"['sca3; machado type', 'spinocerebellar ataxia type 3; machado type']" +"""GARD:0021051""",hemihyperplasia-multiple lipomatosis syndrome,['hhml'] +"""GARD:0021052""",10q22.3q23.3 microduplication syndrome,"['dup(10)(q22.3q23.3)', 'trisomy 10q22.3q23.3']" +"""GARD:0021053""",familial hyperinsulinism,"['fhi', 'familial hyperinsulinemic hypoglycemia']" +"""GARD:0021054""",hyperinsulinism due to ucp2 deficiency,['hyperinsulinemic hypoglycemia due to ucp2 deficiency'] +"""GARD:0021055""",diazoxide-resistant hyperinsulinism,['diazoxide-resistant hyperinsulinemic hypoglycemia'] +"""GARD:0021056""",non-insulinoma pancreatogenous hypoglycemia syndrome,['niphs'] +"""GARD:0021057""",symptomatic form of coffin-lowry syndrome in female carriers,[] +"""GARD:0021058""",spasmus nutans,[] +"""GARD:0021059""",acute endophthalmitis,[] +"""GARD:0021060""",chronic endophthalmitis,[] +"""GARD:0021061""",toxic maculopathy due to antimalarial drugs,[] +"""GARD:0021062""",primary oculocerebral lymphoma,['primary oculocerebral non-hodgkin lymphoma'] +"""GARD:0021063""",primary intraocular lymphoma,"['piol', 'primary intraocular non-hodgkin lymphoma']" +"""GARD:0021064""",primary organ-specific lymphoma,[] +"""GARD:0021065""",intermediate uveitis,['iu'] +"""GARD:0021066""",infectious posterior uveitis,[] +"""GARD:0021067""",infectious anterior uveitis,[] +"""GARD:0021068""",infectious panuveitis,[] +"""GARD:0021069""",paraneoplastic uveitis,[] +"""GARD:0021070""",calciphylaxis cutis,[] +"""GARD:0021071""",visceral calciphylaxis,[] +"""GARD:0021072""",laryngotracheoesophageal cleft type 0,"['ltec0', 'laryngo-tracheo-esophageal cleft type 0']" +"""GARD:0021073""","pelizaeus-merzbacher disease, classic form",['classic pmd'] +"""GARD:0021074""","pelizaeus-merzbacher disease, transitional form",['transitional pmd'] +"""GARD:0021075""",pelizaeus-merzbacher disease in female carriers,[] +"""GARD:0021076""",autoimmune pancreatitis type 1,"['aip type 1', 'igg4-related pancreatitis', 'lymphoplasmacytic sclerosing pancreatitis']" +"""GARD:0021077""",autoimmune pancreatitis type 2,"['aip type 2', 'duct-centric pancreatitis']" +"""GARD:0021078""",distal monosomy 12p,"['12p13.33 microdeletion syndrome', 'del(12)(p13.33)', 'distal deletion 12p']" +"""GARD:0021079""",rare systemic or rheumatological disease of childhood,[] +"""GARD:0021080""",autosomal semi-dominant severe lipodystrophic laminopathy,[] +"""GARD:0021081""",rare pediatric vasculitis,[] +"""GARD:0021082""",rare pediatric systemic disease,[] +"""GARD:0021083""",recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,['idmdc'] +"""GARD:0021084""",familial alzheimer-like prion disease,[] +"""GARD:0021085""",inherited human prion disease,"['familial prion disease', 'genetic human prion disease']" +"""GARD:0021086""",familial omphalocele syndrome with facial dysmorphism,[] +"""GARD:0021087""",generalized essential telangiectasia,['get'] +"""GARD:0021088""",bullous diffuse cutaneous mastocytosis,['bullous dcm'] +"""GARD:0021089""",pseudoxanthomatous diffuse cutaneous mastocytosis,"['infiltrative small vesicular dcm', 'infiltrative small vesicular diffuse cutaneous mastocytosis', 'pseudoxanthomatous dcm']" +"""GARD:0021090""",intralobar congenital pulmonary sequestration,"['congenital intrapulmonary sequestration', 'intralobar congenital bronchopulmonary sequestration']" +"""GARD:0021091""",extralobar congenital pulmonary sequestration,"['congenital extrapulmonary sequestration', 'extralobar congenital bronchopulmonary sequestration']" +"""GARD:0021092""",communicating congenital bronchopulmonary-foregut malformation,[] +"""GARD:0021093""",congenital pulmonary airway malformation type 0,"['cpam type 0', 'congenital cystic adenomatoid malformation of the lung type 0', 'congenital cystic adenomatous malformation of the lung type 0']" +"""GARD:0021094""",congenital pulmonary airway malformation type 1,"['ccam type 1', 'cpam type 1', 'congenital cystic adenomatoid malformation of the lung type 1', 'congenital cystic adenomatous malformation of the lung type 1', 'congenital cystic disease of the lung type 1']" +"""GARD:0021095""",congenital pulmonary airway malformation type 2,"['ccam type 2', 'cpam type 2', 'congenital cystic adenomatoid malformation of the lung type 2', 'congenital cystic adenomatous malformation of the lung type 2', 'congenital cystic disease of the lung type 2']" +"""GARD:0021096""",congenital pulmonary airway malformation type 3,"['ccam type 3', 'cpam type 3', 'congenital cystic adenomatoid malformation of the lung type 3', 'congenital cystic adenomatous malformation of the lung type 3', 'congenital cystic disease of the lung type 3']" +"""GARD:0021097""",congenital pulmonary airway malformation type 4,"['cpam type 4', 'congenital cystic adenomatoid malformation of the lung type 4', 'congenital cystic adenomatous malformation of the lung type 4']" +"""GARD:0021098""",idiopathic anterior uveitis,[] +"""GARD:0021099""",idiopathic posterior uveitis,[] +"""GARD:0021100""",idiopathic panuveitis,[] +"""GARD:0021101""",systemic diseases with anterior uveitis,[] +"""GARD:0021102""",systemic diseases with posterior uveitis,[] +"""GARD:0021103""",systemic diseases with panuveitis,[] +"""GARD:0021104""",inherited non-syndromic ichthyosis,[] +"""GARD:0021105""",inherited ichthyosis syndromic form,[] +"""GARD:0021106""",autosomal recessive congenital ichthyosis,['arci'] +"""GARD:0021107""",keratinopathic ichthyosis,['kpi'] +"""GARD:0021108""",acral self-healing collodion baby,['acral shcb'] +"""GARD:0021109""",x-linked ichthyosis syndrome,[] +"""GARD:0021110""",autosomal ichthyosis syndrome,[] +"""GARD:0021111""",autosomal ichthyosis syndrome with prominent hair abnormalities,[] +"""GARD:0021112""",autosomal ichthyosis syndrome with prominent neurologic signs,[] +"""GARD:0021113""",autosomal ichthyosis syndrome with fatal disease course,[] +"""GARD:0021114""",autosomal ichthyosis syndrome with other associated signs,[] +"""GARD:0021115""",partial deletion of chromosome 12,['partial monosomy of chromosome 12'] +"""GARD:0021116""",autoimmune polyendocrinopathy,"['aps', 'autoimmune polyglandular syndrome']" +"""GARD:0021117""",xp22.13p22.2 duplication syndrome,"['dup(x)(p22)', 'dup(x)(p22.13p22.2)', 'duplication xp22']" +"""GARD:0021118""",fetal lung interstitial tumor,"['flit', 'immature interstitial mesenchymal tumor']" +"""GARD:0021119""",familial intrahepatic cholestasis,[] +"""GARD:0021120""",well-differentiated fetal adenocarcinoma of the lung,['wdfa'] +"""GARD:0021121""",acute annular outer retinopathy,['aaor'] +"""GARD:0021122""",qualitative or quantitative defects of troponin,[] +"""GARD:0021123""",qualitative or quantitative defects of tropomyosin,[] +"""GARD:0021124""",ocular albinism,[] +"""GARD:0021125""",syndromic oculocutaneous albinism,[] +"""GARD:0021126""",disorder of phenylalanine metabolism,[] +"""GARD:0021127""",disorder of tyrosine metabolism,[] +"""GARD:0021128""",neonatal marfan syndrome,['neonatal mfs'] +"""GARD:0021129""",marfan syndrome and marfan-related disorders,[] +"""GARD:0021130""",rare disease with thoracic aortic aneurysm and aortic dissection,[] +"""GARD:0021131""",disorder of folate metabolism and transport,[] +"""GARD:0021132""",disorders of vitamin d metabolism,[] +"""GARD:0021133""",hypocalcemic rickets,[] +"""GARD:0021134""",early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation,[] +"""GARD:0021135""",infective dermatitis associated with htlv-1,"['idh', 'infective dermatitis associated with human t-lymphotropic virus type 1', 'infective dermatitis associated with human t-lymphotropic virus type i']" +"""GARD:0021136""",primary non-gestational choriocarcinoma of ovary,"['ngco', 'primary non-gestational ovarian choriocarcinoma']" +"""GARD:0021137""",non-central nervous system-localized embryonal carcinoma,['non-cns-localized embryonal carcinoma'] +"""GARD:0021138""",malignancy diagnosed during pregnancy,['cancer diagnosed during pregnancy'] +"""GARD:0021139""",pyoderma gangrenosum-acne-suppurative hidradenitis syndrome,['pash syndrome'] +"""GARD:0021140""",4h leukodystrophy,['polr-related leukodystrophy'] +"""GARD:0021141""",12q15q21.1 microdeletion syndrome,"['del(12)(q15)(q21.1)', 'deletion 12q15q21.1', 'monosomy 12q15q21.1']" +"""GARD:0021142""",microtriplication 11q24.1,['tetrasomy 11q24.1'] +"""GARD:0021143""",inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency,[] +"""GARD:0021144""",juvenile nasopharyngeal angiofibroma,['jna'] +"""GARD:0021145""",rare virus associated tumor,[] +"""GARD:0021146""",epstein-barr virus-related tumor,['ebv-related tumor'] +"""GARD:0021147""",epstein-barr virus-associated malignant lymphoproliferative disorder,['ebv-associated lymphoproliferative disorder'] +"""GARD:0021148""",epstein-barr virus-associated carcinoma,['ebv-associated carcinoma'] +"""GARD:0021149""",epstein-barr virus-associated mesenchymal tumor,['ebv-associated mesenchymal tumor'] +"""GARD:0021150""",epstein-barr virus-positive diffuse large b-cell lymphoma of the elderly,['ebv-positive dlbcl of the elderly'] +"""GARD:0021151""",lymphoepithelial-like carcinoma,[] +"""GARD:0021152""",myopericytoma,[] +"""GARD:0021153""",late-onset primary lymphedema without systemic or visceral involvement,[] +"""GARD:0021154""",disorder of tryptophan metabolism,[] +"""GARD:0021155""",disorder of lysine and hydroxylysine metabolism,[] +"""GARD:0021156""",disorder of glutamine metabolism,[] +"""GARD:0021157""",disorder of proline metabolism,[] +"""GARD:0021158""",disorder of ornithine metabolism,[] +"""GARD:0021159""",transient hyperammonemia of the newborn,[] +"""GARD:0021160""",systemic disease with skin involvement,[] +"""GARD:0021161""",autoinflammatory syndrome with immune deficiency,[] +"""GARD:0021162""",autoinflammatory syndrome with skin involvement,[] +"""GARD:0021163""",rare head and neck tumor,[] +"""GARD:0021164""",acute generalized exanthematous pustulosis,"['agep', 'pustular drug eruption', 'toxic pustuloderma']" +"""GARD:0021165""",pleomorphic rhabdomyosarcoma,[] +"""GARD:0021166""",tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria,"['bh4-responsive hpa/pku', 'bh4-responsive hyperphenylalaninemia/phenylketonuria', 'tetrahydrobiopterin-responsive hpa/pku']" +"""GARD:0021167""",grayson-wilbrandt corneal dystrophy,['gwcd'] +"""GARD:0021168""",pre-descemet corneal dystrophy,['pdcd'] +"""GARD:0021169""",ketamine-induced biliary dilatation,[] +"""GARD:0021170""",fixed drug eruption,[] +"""GARD:0021171""",toxic dermatosis,[] +"""GARD:0021172""",constitutional dyserythropoietic anemia,[] +"""GARD:0021173""",1p21.3 microdeletion syndrome,"['del(1)(p21.3)', 'monosomy 1p21.3']" +"""GARD:0021174""",hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,['hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome'] +"""GARD:0021175""",syndactyly-nystagmus syndrome due to 2q31.1 microduplication,"['syndactyly-nystagmus syndrome due to dup(2)(q31.1)', 'syndactyly-nystagmus syndrome due to trisomy 2q31.1']" +"""GARD:0021176""",rare nevus,[] +"""GARD:0021177""",multiple pterygium syndrome,[] +"""GARD:0021178""",chronic intestinal failure,['cif'] +"""GARD:0021179""",amelia,[] +"""GARD:0021180""",intercalary limb defects,['intercalary meromelia'] +"""GARD:0021181""",congenital deformities of limbs,[] +"""GARD:0021182""",congenital deformities of fingers,[] +"""GARD:0021183""",joint formation defects,[] +"""GARD:0021184""",congenital joint dislocations,[] +"""GARD:0021185""",non syndromic limb overgrowth,[] +"""GARD:0021186""",syndrome with limb reduction defects,[] +"""GARD:0021187""",dysostosis with combined reduction defects of upper and lower limbs,[] +"""GARD:0021188""","syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy",[] +"""GARD:0021189""",popliteal pterygium syndrome,[] +"""GARD:0021190""",amelia of upper limb,[] +"""GARD:0021191""",amelia of lower limb,[] +"""GARD:0021192""",humeral agenesis/hypoplasia,"['congenital absence of humerus', 'congenital hypoplasia of humerus', 'humeral intercalary meromelia']" +"""GARD:0021193""",congenital absence of thigh and lower leg with foot present,['femorotibiofibular intercalary transverse meromelia'] +"""GARD:0021194""",congenital absence of both forearm and hand,['radio-ulnar terminal transverse meromelia'] +"""GARD:0021195""",congenital absence of both lower leg and foot,['tibiofibular terminal transverse meromelia'] +"""GARD:0021196""",acheiria,['congenital absence of hand'] +"""GARD:0021197""",apodia,['congenital absence of foot'] +"""GARD:0021198""",congenital hypoplasia of thumb,"['congenital absence/hypoplasia of thumb', 'thumb hypodactyly', 'thumb oligodactyly']" +"""GARD:0021199""",hyperphalangy,"['supernumerary phalanges', 'supernumerary phalanx']" +"""GARD:0021200""",central polydactyly,['mesoaxial polydactyly'] +"""GARD:0021201""",syndactyly type 6,"['mitten hand', 'syndactyly; mitten type', 'unilateral syndactyly of digits 2-5']" +"""GARD:0021202""",familial isolated clinodactyly of fingers,[] +"""GARD:0021203""",congenital pseudoarthrosis of the tibia,['congenital pseudarthrosis of the tibia'] +"""GARD:0021204""",congenital pseudoarthrosis of the femur,['congenital pseudarthrosis of the femur'] +"""GARD:0021205""",congenital pseudoarthrosis of the fibula,['congenital pseudarthrosis of the fibula'] +"""GARD:0021206""",congenital pseudoarthrosis of the radius,['congenital pseudarthrosis of the radius'] +"""GARD:0021207""",congenital pseudoarthrosis of the ulna,['congenital pseudarthrosis of the ulna'] +"""GARD:0021208""",tibio-fibular synostosis,['tibio-fibular fusion'] +"""GARD:0021209""",true congenital shoulder dislocation,[] +"""GARD:0021210""",isolated congenital radial head dislocation,['isolated congenital elbow dislocation'] +"""GARD:0021211""",congenital knee dislocation,[] +"""GARD:0021212""",upper limb hypertrophy,[] +"""GARD:0021213""",lower limb hypertrophy,[] +"""GARD:0021214""",zygodactyly type 2,"['sd1; lueken type', 'sd1b', 'syndactyly type 1; lueken type', 'syndactyly type 1b', 'zygodactyly; lueken type']" +"""GARD:0021215""",zygodactyly type 3,"['sd1; montagu type', 'sd1c', 'syndactyly type 1; montagu type', 'syndactyly type 1c', 'zygodactyly; montagu type']" +"""GARD:0021216""",zygodactyly type 4,"['sd1; castilla type', 'sd1d', 'syndactyly type 1; castilla type', 'syndactyly type 1d', 'zygodactyly; castilla type']" +"""GARD:0021217""","congenital vertical talus, unilateral",[] +"""GARD:0021218""","congenital vertical talus, bilateral",[] +"""GARD:0021219""","humero-ulnar synostosis, unilateral",['humero-ulnar fusion; unilateral'] +"""GARD:0021220""","humero-ulnar synostosis, bilateral",['humero-ulnar fusion; bilateral'] +"""GARD:0021221""","radio-ulnar synostosis, unilateral",['radio-ulnar fusion; unilateral'] +"""GARD:0021222""","radio-ulnar synostosis, bilateral",['radio-ulnar fusion; bilateral'] +"""GARD:0021223""","congenital elbow dislocation, unilateral",[] +"""GARD:0021224""","congenital elbow dislocation, bilateral",[] +"""GARD:0021225""",congenital genu recurvatum,[] +"""GARD:0021226""",congenital genu flexum,[] +"""GARD:0021227""","macrodactyly of fingers, unilateral",['macrodactyly of hand; unilateral'] +"""GARD:0021228""","macrodactyly of fingers, bilateral",['macrodactyly of hand; bilateral'] +"""GARD:0021229""","macrodactyly of toes, unilateral",['macrodactyly of foot; unilateral'] +"""GARD:0021230""","macrodactyly of toes, bilateral",['macrodactyly of foot; bilateral'] +"""GARD:0021231""",disorder of thiamine metabolism and transport,[] +"""GARD:0021232""",11p15.4 microduplication syndrome,"['dup(11)p(15.4)', 'trisomy 11p15.4']" +"""GARD:0021233""",sagliker syndrome,[] +"""GARD:0021234""",onychomatricoma,[] +"""GARD:0021235""",rare nail tumor,[] +"""GARD:0021236""",follicular cholangitis and pancreatitis,['follicular pancreatocholangitis'] +"""GARD:0021237""",carcinoma of the ampulla of vater,"['ampullary carcinoma', 'ampulloma']" +"""GARD:0021238""",combined pulmonary fibrosis-emphysema syndrome,['cpfe'] +"""GARD:0021239""",staphylococcal toxemia,[] +"""GARD:0021240""",laminopathy with striated muscle involvement,[] +"""GARD:0021241""",laminopathy with peripheral neuropathy,[] +"""GARD:0021242""",laminopathy with lipodystrophy,[] +"""GARD:0021243""",laminopathy with premature aging,[] +"""GARD:0021244""",indolent b-cell non-hodgkin lymphoma,['indolent b-cell nhl'] +"""GARD:0021245""",aggressive b-cell non-hodgkin lymphoma,['aggressive b-cell nhl'] +"""GARD:0021246""",diffuse large b-cell lymphoma of the central nervous system,['dlbcl of the cns'] +"""GARD:0021247""",primary cutaneous anaplastic large cell lymphoma,"['primary c-alcl', 'regressive atypical histiocytosis']" +"""GARD:0021248""",splenic diffuse red pulp small b-cell lymphoma,"['sdrpl', 'splenic diffuse red pulp lymphoma']" +"""GARD:0021249""",hairy cell leukemia variant,"['hcl-v', 'leukemic reticuloendotheliosis variant', 'prolymphocytic variant of hcl', 'prolymphocytic variant of hairy cell leukemia']" +"""GARD:0021250""",diffuse large b-cell lymphoma with chronic inflammation,['dlbcl with chronic inflammation'] +"""GARD:0021251""",alk-positive anaplastic large cell lymphoma,"['alk+ alcl', 'alk+ anaplastic large cell lymphoma']" +"""GARD:0021252""",alk-negative anaplastic large cell lymphoma,"['alk- alcl', 'alk- anaplastic large cell lymphoma']" +"""GARD:0021253""",pituitary tumor,[] +"""GARD:0021254""",primary hypomagnesemia with hypercalciuria and nephrocalcinosis,"['fhhnc', 'michellis-castrillo syndrome']" +"""GARD:0021255""",myospherulosis,"['spherulocytosis', 'subcutaneous spherulocystic disease']" +"""GARD:0021256""",rare tumor of gallbladder and extrahepatic biliary tract,['rare tumor of gallbladder and ebt'] +"""GARD:0021257""",rare tumor of liver and intrahepatic biliary tract,['rare tumor of liver and ibt'] +"""GARD:0021258""",rare intoxication due to medical products,[] +"""GARD:0021259""",complication after organ transplantation,[] +"""GARD:0021260""",non-infectious anterior uveitis,['non-infectious iridocyclitis'] +"""GARD:0021261""",rare parkinsonian syndrome due to neurodegenerative disease,[] +"""GARD:0021262""",hemiparkinsonism-hemiatrophy syndrome,['hp-ha syndrome'] +"""GARD:0021263""",rare parkinsonian syndrome due to intoxication,[] +"""GARD:0021264""",manganese poisoning,"['manganese intoxication', 'manganism']" +"""GARD:0021265""",delayed encephalopathy due to carbon monoxide poisoning,['delayed encephalopathy due to co poisoning'] +"""GARD:0021266""",cyanide-induced parkinsonism-dystonia,[] +"""GARD:0021267""",miscellaneous movement disorder due to neurodegenerative disease,[] +"""GARD:0021268""",frontotemporal neurodegeneration with movement disorder,[] +"""GARD:0021269""",rare tremor disorder,[] +"""GARD:0021270""",rare choreic movement disorder,[] +"""GARD:0021271""",neurodegenerative disease with chorea,[] +"""GARD:0021272""",postinfectious autoimmune disease with chorea,[] +"""GARD:0021273""",hemidystonia-hemiatrophy syndrome,['hd-ha syndrome'] +"""GARD:0021274""",rare myoclonus,[] +"""GARD:0021275""",primary myoclonus,[] +"""GARD:0021276""",rare disease with myoclonus as a major feature,[] +"""GARD:0021277""",epilepsy and/or ataxia with myoclonus as a major feature,[] +"""GARD:0021278""",non progressive epilepsy and/or ataxia with myoclonus as a major feature,[] +"""GARD:0021279""",motor stereotypies,[] +"""GARD:0021280""",rare paroxysmal movement disorder,[] +"""GARD:0021281""",hyperekplexia,[] +"""GARD:0021282""",sporadic hyperekplexia,[] +"""GARD:0021283""",rare genetic parkinsonian disorder,['rare genetic hypokinetic movement disorder'] +"""GARD:0021284""",rare parkinsonian syndrome due to genetic neurodegenerative disease,[] +"""GARD:0021285""",miscellaneous movement disorder due to genetic neurodegenerative disease,[] +"""GARD:0021286""",rare genetic tremor disorder,[] +"""GARD:0021287""",rare genetic myoclonus,[] +"""GARD:0021288""",rare genetic disease with myoclonus as a major feature,[] +"""GARD:0021289""",diffuse palmoplantar keratoderma,"['diffuse ppk', 'diffuse keratosis palmoplantaris', 'diffuse palmoplantar hyperkeratosis']" +"""GARD:0021290""",isolated diffuse palmoplantar keratoderma,"['isolated diffuse ppk', 'isolated diffuse keratosis palmoplantaris', 'isolated diffuse palmoplantar hyperkeratosis']" +"""GARD:0021291""",disease with diffuse palmoplantar keratoderma as a major feature,['disease with diffuse palmoplantar hyperkeratosis as a major feature'] +"""GARD:0021292""",autosomal dominant diffuse mutilating palmoplantar keratoderma,['autosomal dominant diffuse mutilating palmoplantar hyperkeratosis'] +"""GARD:0021293""",autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature,['autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature'] +"""GARD:0021294""",focal palmoplantar keratoderma,"['focal ppk', 'focal keratosis palmoplantaris', 'focal palmoplantar hyperkeratosis']" +"""GARD:0021295""",isolated focal palmoplantar keratoderma,"['isolated focal ppk', 'isolated focal keratosis palmoplantaris', 'isolated focal palmoplantar hyperkeratosis']" +"""GARD:0021296""",disease with focal palmoplantar keratoderma as a major feature,['disease with focal palmoplantar hyperkeratosis as a major feature'] +"""GARD:0021297""",punctate palmoplantar keratoderma,"['punctate ppk', 'punctate keratosis palmoplantaris', 'punctate palmoplantar hyperkeratosis']" +"""GARD:0021298""",marginal papular palmoplantar keratoderma,['marginal papular palmoplantar hyperkeratosis'] +"""GARD:0021299""",focal acral hyperkeratosis,"['ppkp3 without elastoidosis', 'pppk3 without elastoidosis', 'punctate palmoplantar hyperkeratosis type 3 without elastoidosis', 'punctate palmoplantar keratoderma type 3 without elastoidosis']" +"""GARD:0021300""",disease with punctate palmoplantar keratoderma as a major feature,['disease with punctate palmoplantar hyperkeratosis as a major feature'] +"""GARD:0021301""",autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature,['autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature'] +"""GARD:0021302""",autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature,['autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature'] +"""GARD:0021303""",disorder of beta and omega amino acid metabolism,[] +"""GARD:0021304""",aminoacylase deficiency,[] +"""GARD:0021305""",disorder of neutral amino acid transport,[] +"""GARD:0021306""",disorder of glycolysis,[] +"""GARD:0021307""",disorder of fructose metabolism,[] +"""GARD:0021308""",disorder of galactose metabolism,[] +"""GARD:0021309""",glycogen storage disease due to glycogen synthase deficiency,"['gsd due to glycogen synthase deficiency', 'glycogenosis due to glycogen synthase deficiency']" +"""GARD:0021310""","glycogen storage disease due to acid maltase deficiency, infantile onset","['alpha-1;4-glucosidase acid deficiency; infantile onset', 'gsd due to acid maltase deficiency; infantile onset', 'gsd type 2; infantile onset', 'gsd type ii; infantile onset', 'glycogen storage disease type 2; infantile onset', 'glycogen storage disease type ii; infantile onset', 'glycogenosis due to acid maltase deficiency; infantile onset', 'glycogenosis type 2; infantile onset', 'glycogenosis type ii; infantile onset', 'pompe disease; infantile onset']" +"""GARD:0021311""",glycerol kinase deficiency,[] +"""GARD:0021312""",disorder of glyoxylate metabolism,[] +"""GARD:0021313""",disorder of carbohydrate absorption and transport,[] +"""GARD:0021314""",disorder of lipid metabolism,[] +"""GARD:0021315""",mevalonate kinase deficiency,['mkd'] +"""GARD:0021316""",disorder of lipid absorption and transport,[] +"""GARD:0021317""",disorder of fatty acid oxidation and ketogenesis,[] +"""GARD:0021318""",acyl-coa dehydrogenase deficiency,[] +"""GARD:0021319""",3-hydroxyacyl-coa dehydrogenase deficiency,[] +"""GARD:0021320""",disorder of carnitine cycle and carnitine transport,[] +"""GARD:0021321""",metabolic disease due to other fatty acid oxidation disorder,[] +"""GARD:0021322""",mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes,[] +"""GARD:0021323""",gm2 gangliosidosis,[] +"""GARD:0021324""","tay-sachs disease, b variant, infantile form","['gm2 gangliosidosis; b variant; infantile form', 'hexosaminidase a deficiency; infantile form']" +"""GARD:0021325""","tay-sachs disease, b variant, juvenile form","['gm2 gangliosidosis; b variant; juvenile form', 'hexosaminidase a deficiency; juvenile form']" +"""GARD:0021326""","tay-sachs disease, b variant, adult form","['gm2 gangliosidosis; b variant; adult form', 'hexosaminidase a deficiency; adult form']" +"""GARD:0021327""","tay-sachs disease, b1 variant","['gm2 gangliosidosis; b1 variant', 'hexosaminidase a deficiency; b1 variant']" +"""GARD:0021328""","metachromatic leukodystrophy, late infantile form","['arylsulfatase a deficiency; late infantile form', 'mld; late infantile form']" +"""GARD:0021329""","metachromatic leukodystrophy, juvenile form","['arylsulfatase a deficiency; juvenile form', 'mld; juvenile form']" +"""GARD:0021330""","metachromatic leukodystrophy, adult form","['arylsulfatase a deficiency; adult form', 'mld; adult form']" +"""GARD:0021331""",sialidosis,[] +"""GARD:0021332""",disorder of sialic acid metabolism,[] +"""GARD:0021333""",lysosomal glycogen storage disease,[] +"""GARD:0021334""",disorder of lysosomal-related organelles,[] +"""GARD:0021335""",disorder of protein n-glycosylation,[] +"""GARD:0021336""",disorder of protein o-glycosylation,[] +"""GARD:0021337""",disorder of o-xylosylglycan synthesis,[] +"""GARD:0021338""",disorder of o-n-acetylgalactosaminylglycan synthesis,[] +"""GARD:0021339""",disorder of o-xylosyl/n-acetylgalactosaminylglycan synthesis,[] +"""GARD:0021340""",disorder of o-mannosylglycan synthesis,[] +"""GARD:0021341""",disorder of fucoglycosan synthesis,[] +"""GARD:0021342""",disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation,['disorder of glycosphingolipid and gpi-anchored proteins glycosylation'] +"""GARD:0021343""",disorder of multiple glycosylation,[] +"""GARD:0021344""",defect in conserved oligomeric golgi complex,['defect in cog complex'] +"""GARD:0021345""",defect in v-atpase,[] +"""GARD:0021346""",disorder of porphyrin and heme metabolism,[] +"""GARD:0021347""",disorder of bilirubin metabolism and excretion,[] +"""GARD:0021348""",disorder of pterin metabolism,[] +"""GARD:0021349""",disorder of metabolite absorption and transport,[] +"""GARD:0021350""",disorder of vitamin and non-protein cofactor absorption and transport,[] +"""GARD:0021351""",disorder of catecholamine synthesis,[] +"""GARD:0021352""",disorder of other vitamins and cofactors metabolism and transport,[] +"""GARD:0021353""",disorder of mineral absorption and transport,[] +"""GARD:0021354""",disorder of copper metabolism,[] +"""GARD:0021355""",disorder of iron metabolism and transport,[] +"""GARD:0021356""",disorder of zinc metabolism and transport,[] +"""GARD:0021357""",disorder of magnesium transport,[] +"""GARD:0021358""",disorder of manganese transport,[] +"""GARD:0021359""",acquired immunodeficiency,[] +"""GARD:0021360""",20p13 microdeletion syndrome,"['20p subtelomeric deletion syndrome', 'del(20)(p13)', 'monosomy 20p13']" +"""GARD:0021361""",congenital pancreatic cyst,"['neonatal congenital pancreatic cyst', 'true congenital pancreatic cyst']" +"""GARD:0021362""",epstein-barr virus-associated gastric carcinoma,"['ebv-associated gastric carcinoma', 'ebvagc']" +"""GARD:0021363""",2q23.1 microduplication syndrome,"['dup(2)(q23.1)', 'trisomy 2q23.1']" +"""GARD:0021364""",contractures-webbed neck-micrognathia-hypoplastic nipples syndrome,['dinno syndrome'] +"""GARD:0021365""",idiopathic linear interstitial keratitis,[] +"""GARD:0021366""",high bone mass osteogenesis imperfecta,['high bone mass oi'] +"""GARD:0021367""",7p22.1 microduplication syndrome,"['dup(7)(p22.1)', 'trisomy 7p22.1']" +"""GARD:0021368""",marfanoid habitus-inguinal hernia-advanced bone age syndrome,[] +"""GARD:0021369""",xq12-q13.3 duplication syndrome,['dup(x)(q12-q13.3)'] +"""GARD:0021370""",rare odontogenic tumor,[] +"""GARD:0021371""",spigelian hernia-cryptorchidism syndrome,[] +"""GARD:0021372""",meigs syndrome,['demons-meigs syndrome'] +"""GARD:0021373""",pseudo-meigs syndrome,['pseudo-demons-meigs syndrome'] +"""GARD:0021374""",atypical meigs syndrome,"['atypical demons-meigs syndrome', 'incomplete meigs syndrome']" +"""GARD:0021375""",ovarian fibroma,[] +"""GARD:0021376""",ovarian fibrothecoma,[] +"""GARD:0021377""",primary progressive apraxia of speech,['ppaos'] +"""GARD:0021378""",autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome,[] +"""GARD:0021379""",intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome,[] +"""GARD:0021380""",growing teratoma syndrome,[] +"""GARD:0021381""",duplication of the pituitary gland,"['dpg-plus syndrome', 'duplication of the pituitary gland-plus syndrome', 'hypophyseal duplication']" +"""GARD:0021382""",variant abeta2m amyloidosis,['autosomal dominant beta2-microglobulinic amyloidosis'] +"""GARD:0021383""",severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,"['5q31.3 microdeletion syndrome', 'del(5)(q31.3)', 'monosomy 5q31.3']" +"""GARD:0021384""",segmental progressive overgrowth syndrome with fibroadipose hyperplasia,[] +"""GARD:0021385""",primary bone lymphoma,[] +"""GARD:0021386""",acquired porencephaly,[] +"""GARD:0021387""",primary localized amyloidosis,['localized al amyloidosis'] +"""GARD:0021388""",rare disease with cushing syndrome as a major feature,[] +"""GARD:0021389""",functioning pituitary adenoma,"['endocrine active pituitary adenoma', 'secreting pituitary adenoma']" +"""GARD:0021390""",mixed functioning pituitary adenoma,['mixed secreting pituitary adenoma'] +"""GARD:0021391""",somatomammotropinoma,"['gh and prl cosecreting pituitary adenoma', 'growth hormone and prolactin cosecreting pituitary adenoma', 'somatolactotropinoma', 'somatoprolactinoma']" +"""GARD:0021392""",silent pituitary adenoma,[] +"""GARD:0021393""",null pituitary adenoma,[] +"""GARD:0021394""",autosomal dominant proximal renal tubular acidosis,['ad prta'] +"""GARD:0021395""",primary hypereosinophilic syndrome,"['clonal hypereosinophilic syndrome', 'hes-m', 'hes-n', 'neoplastic hypereosinophilic syndrome', 'primary hes']" +"""GARD:0021396""",secondary hypereosinophilic syndrome,"['hes-r', 'reactive hypereosinophilic syndrome', 'secondary hes']" +"""GARD:0021397""",lymphocytic hypereosinophilic syndrome,"['hes-l', 'lymphocytic variant hes', 'lymphoid hes']" +"""GARD:0021398""","classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",['classic 21-ohd cah; salt wasting form'] +"""GARD:0021399""","classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form",['classic 21-ohd cah; simple virilizing form'] +"""GARD:0021400""",autoimmune disease with skin involvement,[] +"""GARD:0021401""",spastic ataxia,['spax'] +"""GARD:0021402""",autosomal dominant spastic ataxia,['ad-spax'] +"""GARD:0021403""",autosomal recessive spastic ataxia,['ar-spax'] +"""GARD:0021404""",partial deletion of the short arm of chromosome 12,"['partial deletion of chromosome 12p', 'partial monosomy of chromosome 12p', 'partial monosomy of the short arm of chromosome 12']" +"""GARD:0021405""",t-b+ severe combined immunodeficiency,['t-b+ scid'] +"""GARD:0021406""",t-b- severe combined immunodeficiency,['t-b- scid'] +"""GARD:0021407""",diencephalic-mesencephalic junction dysplasia,[] +"""GARD:0021408""",chondroectodermal dysplasia with night blindness,[] +"""GARD:0021409""",bilateral massive adrenal hemorrhage,"['bmah', 'bilateral adrenal hemorrhage']" +"""GARD:0021410""",lujo hemorrhagic fever,['zambian hemorrhagic fever'] +"""GARD:0021411""",argentine hemorrhagic fever,"['argentinian hemorrhagic fever', 'junin hemorrhagic fever']" +"""GARD:0021412""",bolivian hemorrhagic fever,['machupo hemorrhagic fever'] +"""GARD:0021413""",venezuelan hemorrhagic fever,['guanarito hemorrhagic fever'] +"""GARD:0021414""",brazilian hemorrhagic fever,['sabia hemorrhagic fever'] +"""GARD:0021415""",chapare hemorrhagic fever,[] +"""GARD:0021416""",rift valley fever,[] +"""GARD:0021417""",multilocular cystic renal neoplasm of low malignant potential,"['mcrcc', 'multilocular clear cell adenocarcinoma', 'multilocular clear cell carcinoma', 'multilocular clear cell renal cell adenocarcinoma', 'multilocular clear cell renal cell carcinoma', 'multilocular cystic renal cell adenocarcinoma', 'multilocular cystic renal cell carcinoma']" +"""GARD:0021418""",mucinous tubular and spindle cell renal carcinoma,[] +"""GARD:0021419""",tubulocystic renal cell carcinoma,[] +"""GARD:0021420""",inherited renal cancer-predisposing syndrome,[] +"""GARD:0021421""",familial nonmedullary thyroid carcinoma,[] +"""GARD:0021422""",autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency,['autosomal recessive msmd due to a complete deficiency'] +"""GARD:0021423""",autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency,['autosomal recessive msmd due to a partial deficiency'] +"""GARD:0021424""",autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency,['autosomal dominant msmd due to a partial deficiency'] +"""GARD:0021425""",autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency,"['autosomal dominant msmd due to partial ifngammar2 deficiency', 'autosomal dominant msmd due to partial interferon gamma receptor 2 deficiency', 'autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency']" +"""GARD:0021426""",primary lymphoma of the conjunctiva,['primary lymphoid conjunctival tumor'] +"""GARD:0021427""",autoinflammatory syndrome of childhood,[] +"""GARD:0021428""",x-linked pure spastic paraplegia,[] +"""GARD:0021429""",pure or complex hereditary spastic paraplegia,"['pure or complex familial spastic paraplegia', 'pure or complicated familial spastic paraplegia', 'pure or complicated hereditary spastic paraplegia']" +"""GARD:0021430""",pure or complex autosomal dominant spastic paraplegia,['pure or complicated autosomal dominant spastic paraplegia'] +"""GARD:0021431""",pure or complex autosomal recessive spastic paraplegia,['pure or complicated autosomal recessive spastic paraplegia'] +"""GARD:0021432""",pure or complex x-linked spastic paraplegia,['pure or complicated x-linked spastic paraplegia'] +"""GARD:0021433""",mt-atp6-related mitochondrial spastic paraplegia,"['maternally-inherited spg', 'maternally-inherited spastic paraplegia']" +"""GARD:0021434""",genetic tumor of hematopoietic and lymphoid tissues,[] +"""GARD:0021435""",multiple paragangliomas associated with polycythemia,"['multiple paragangliomas associated with erythrocytosis', 'paraganglioma-somatostatinoma-polycythemia syndrome']" +"""GARD:0021436""",severe lateral tibial bowing with short stature,[] +"""GARD:0021437""",9p13 microdeletion syndrome,"['del(9)(p13)', 'monosomy 9p13']" +"""GARD:0021438""",congenital achiasma,[] +"""GARD:0021439""",mixed sclerosing bone dystrophy with extra-skeletal manifestations,[] +"""GARD:0021440""",hereditary inclusion body myopathy type 4,['hibm4'] +"""GARD:0021441""",muscular hypertrophy-hepatomegaly-polyhydramnios syndrome,[] +"""GARD:0021442""",hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial dna mutation,"['hypertrophic cardiomyopathy with kidney anomalies due to mtdna mutation', 'hypertrophic cardiomyopathy with renal anomalies due to mitochondrial dna mutation']" +"""GARD:0021443""",aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,"['aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome', 'aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome']" +"""GARD:0021444""",hyperinsulinism due to hnf1a deficiency,['hyperinsulinemic hypoglycemia due to hnf1a deficiency'] +"""GARD:0021445""",benign samaritan congenital myopathy,[] +"""GARD:0021446""",autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain,['autosomal dominant intermediate cmt disease with neuropathic pain'] +"""GARD:0021447""",autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation,['cmt2 due to kif5a mutation'] +"""GARD:0021448""",hendra virus infection,[] +"""GARD:0021449""",invasive non-typhoidal salmonellosis,"['invasive non-typhoidal salmonella disease', 'ints disease']" +"""GARD:0021450""",microcephalic primordial dwarfism,[] +"""GARD:0021451""",trichorhinophalangeal syndrome,[] +"""GARD:0021452""",non-familial rare disease with dilated cardiomyopathy,[] +"""GARD:0021453""",hereditary periodic fever syndrome,[] +"""GARD:0021454""",pyogenic autoinflammatory syndrome,[] +"""GARD:0021455""",granulomatous autoinflammatory syndrome,[] +"""GARD:0021456""",mixed autoinflammatory and autoimmune syndrome,[] +"""GARD:0021457""",unclassified autoinflammatory syndrome,[] +"""GARD:0021458""",periodic fever syndrome of childhood,[] +"""GARD:0021459""",pyogenic autoinflammatory syndrome of childhood,[] +"""GARD:0021460""",granulomatous autoinflammatory syndrome of childhood,[] +"""GARD:0021461""",unclassified autoinflammatory syndrome of childhood,[] +"""GARD:0021462""",unexplained periodic fever syndrome of childhood,[] +"""GARD:0021463""","46,xx disorder of gonadal development",[] +"""GARD:0021464""","46,xx disorder of sex development induced by fetoplacental androgens excess",['46;xx dsd induced by fetoplacental androgens excess'] +"""GARD:0021465""","46,xx disorder of sex development induced by endogenous maternal-derived androgen",['46;xx dsd induced by endogenous maternal-derived androgen'] +"""GARD:0021466""","46,xx disorder of sex development induced by exogenous maternal-derived androgen",['46;xx dsd induced by exogenous maternal-derived androgen'] +"""GARD:0021467""","syndrome with 46,xx disorder of sex development",['syndrome with 46;xx dsd'] +"""GARD:0021468""","46,xy disorder of gonadal development",[] +"""GARD:0021469""","46,xy ovotesticular disorder of sex development",['46;xy ovotesticular dsd'] +"""GARD:0021470""","46,xy disorder of sex development of endocrine origin",['46;xy dsd of endocrine origin'] +"""GARD:0021471""","46,xy disorder of sex development due to impaired androgen production",['46;xy dsd due to impaired androgen production'] +"""GARD:0021472""","46,xy disorder of sex development due to a cholesterol synthesis defect",['46;xy dsd due to a cholesterol synthesis defect'] +"""GARD:0021473""",classic congenital lipoid adrenal hyperplasia due to star deficency,['classic clah'] +"""GARD:0021474""",non-classic congenital lipoid adrenal hyperplasia due to star deficency,[] +"""GARD:0021475""","46,xy disorder of sex development induced by maternal exposure to endocrine disruptors",['46;xy dsd induced by maternal-exposure to endocrine disruptors'] +"""GARD:0021476""",sex chromosome disorder of sex development,['sex chromosome dsd'] +"""GARD:0021477""",disorder of sex development of gynecological interest,['dsd of gynecological interest'] +"""GARD:0021478""","46,xy disorder of sex development of gynecological interest",['46;xy dsd of gynecological interest'] +"""GARD:0021479""",syndrome with disorder of sex development of gynecological interest,['syndrome with dsd of gynecological interest'] +"""GARD:0021480""",genetic disorder of sex development of gynecological interest,['genetic dsd of gynecological interest'] +"""GARD:0021481""",genetic disorder of sex development,['genetic dsd'] +"""GARD:0021482""","genetic 46,xx disorder of sex development",['genetic 46;xx dsd'] +"""GARD:0021483""","genetic 46,xy disorder of sex development",['genetic 46;xy dsd'] +"""GARD:0021484""","genetic 46,xy disorder of sex development of endocrine origin",['genetic 46;xy dsd of endocrine origin'] +"""GARD:0021485""",cerebral sinovenous thrombosis,['csvt'] +"""GARD:0021486""",severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency,[] +"""GARD:0021487""",thrombocythemia with distal limb defects,"['familial thrombocytosis with transverse limb defect', 'hereditary thrombocytosis with transverse limb defect']" +"""GARD:0021488""",inverse klippel-trénaunay syndrome,['cutaneous hemangioma with muscle or bone atrophy'] +"""GARD:0021489""",autosomal recessive frontotemporal pachygyria,[] +"""GARD:0021490""",acute megakaryoblastic leukemia without down syndrome,['non-ds-amkl'] +"""GARD:0021491""",spastic paraplegia-paget disease of bone syndrome,[] +"""GARD:0021492""",adult-onset distal myopathy due to vcp mutation,[] +"""GARD:0021493""",mosaic genome-wide paternal uniparental disomy,"['androgenetic/biparental mosaicism', 'genome-wide paternal uniparental disomy mosaicism', 'mosaic genome-wide paternal upd']" +"""GARD:0021494""",idiopathic giant cell myocarditis,['igcm'] +"""GARD:0021495""",non-hypoproteinemic hypertrophic gastropathy,['hypertrophic gastropathy without hypoproteinemia'] +"""GARD:0021496""",juvenile idiopathic inflammatory myopathy,['jiim'] +"""GARD:0021497""",juvenile overlap myositis,[] +"""GARD:0021498""",transient neonatal multiple acyl-coa dehydrogenase deficiency,"['transient neonatal mad deficiency', 'transient neonatal madd', 'transient neonatal glutaric acidemia type 2', 'transient neonatal glutaric aciduria type 2']" +"""GARD:0021499""",intermittent hydrarthrosis,[] +"""GARD:0021500""",classic neuroendocrine tumor of appendix,"['classic appendiceal neuroendocrine tumor', 'classic appendix neuroendocrine tumor']" +"""GARD:0021501""",wild type attr amyloidosis,"['attrwt amyloidosis', 'attrwt-related amyloidosis', 'senile systemic amyloidosis', 'wild type attr-related amyloidosis']" +"""GARD:0021502""",high altitude pulmonary edema,[] +"""GARD:0021503""",lead poisoning,"['lead intoxication', 'plumbism', 'saturnism']" +"""GARD:0021504""",hypotrichosis-deafness syndrome,['hypotrichosis-hearing loss syndrome'] +"""GARD:0021505""",hemoglobin lepore-beta-thalassemia syndrome,"['hblepore-beta-thalassemia syndrome', 'lepore-beta-thalassemia syndrome']" +"""GARD:0021506""",chronic actinic dermatitis,"['actinic reticuloid', 'chronic photosensitivity dermatitis']" +"""GARD:0021507""",genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability,"['genetic mca', 'genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)']" +"""GARD:0021508""",constitutional neutropenia with extra-hematopoietic manifestations,[] +"""GARD:0021509""",other immunodeficiency syndromes due to defects in innate immunity,[] +"""GARD:0021510""",syndrome with combined immunodeficiency,[] +"""GARD:0021511""",immunodeficiency due to absence of thymus,[] +"""GARD:0021512""",immunodeficiency with isotype or light chain deficiencies with normal number of b-cells,[] +"""GARD:0021513""",immunodeficiency with severe reduction in serum igg and iga with normal/elevated igm and normal number of b-cells,[] +"""GARD:0021514""",other immunodeficiency syndrome with predominantly antibody defects,[] +"""GARD:0021515""",immunodeficiency syndrome with hypopigmentation,[] +"""GARD:0021516""","disorder of phospholipids, sphingolipids and fatty acids biosynthesis",[] +"""GARD:0021517""","disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement",[] +"""GARD:0021518""","disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement",[] +"""GARD:0021519""","disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement",[] +"""GARD:0021520""",mitochondrial dna maintenance syndrome,['mtdna maintenance syndrome'] +"""GARD:0021521""",intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,['autosomal recessive intellectual disability due to trappc9 deficiency'] +"""GARD:0021522""",focal epilepsy-intellectual disability-cerebro-cerebellar malformation,['focal epilepsy-intellectual disability-dysarthria-ataxia syndrome'] +"""GARD:0021523""",16q24.1 microdeletion syndrome,"['del(16)(q24.1)', 'monosomy 16q24.1']" +"""GARD:0021524""",phalangeal microgeodic syndrome,['phalangeal osteolysis'] +"""GARD:0021525""",autosomal recessive cerebellar ataxia with late-onset spasticity,['autosomal recessive cerebellar ataxia due to gba2 deficiency'] +"""GARD:0021526""",neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,"['9q21.3 microdeletion syndrome', 'del(9)(q21.3)']" +"""GARD:0021527""",attenuated chédiak-higashi syndrome,['atypical chédiak-higashi syndrome'] +"""GARD:0021528""",disorder of melanin metabolism,[] +"""GARD:0021529""",minimal pigment oculocutaneous albinism type 1,"['mp oca type 1', 'oca1-mp']" +"""GARD:0021530""",congenital retinal arteriovenous communication,"['congenital arteriovenous anastomoses of the retina', 'congenital arteriovenous communication of the retina', 'congenital retinal arteriovenous anastomoses']" +"""GARD:0021531""",idiopathic macular telangiectasia type 1,"['aneurysmal telangiectasia', 'visible and exudative idiopathic juxtafoveolar retinal telangiectasis']" +"""GARD:0021532""",idiopathic macular telangiectasia type 3,['occlusive idiopathic juxtafoveolar retinal telangiectasis'] +"""GARD:0021533""",vasoproliferative tumor of the retina,"['retinal vasoproliferative tumor', 'vptr', 'vasoproliferative tumor of the ocular fundus']" +"""GARD:0021534""",3q26q27 microdeletion syndrome,"['del(3)(q26q27)', 'monosomy 3q26q27']" +"""GARD:0021535""",arterial thoracic outlet syndrome,"['atos', 'arterial tos', 'arterial cervical rib syndrome', 'arterial costoclavicular syndrome', 'arterial hyperabduction syndrome', 'arterial scalenus anticus syndrome', 'arterial thoracic outlet compression syndrome']" +"""GARD:0021536""",venous thoracic outlet syndrome,"['effort subclavian vein thrombosis', 'paget-schrotter disease', 'vtos', 'venous tos', 'venous cervical rib syndrome', 'venous costoclavicular syndrome', 'venous hyperabduction syndrome', 'venous scalenus anticus syndrome', 'venous thoracic outlet compression syndrome']" +"""GARD:0021537""",primary essential cutis verticis gyrata,[] +"""GARD:0021538""",primary non-essential cutis verticis gyrata,[] +"""GARD:0021539""",idiopathic nephrotic syndrome,[] +"""GARD:0021540""",genetic non-syndromic renal or urinary tract malformation,[] +"""GARD:0021541""",congenital anomaly of the great veins,[] +"""GARD:0021542""",ring chromosome,[] +"""GARD:0021543""",genetic progeroid syndrome,[] +"""GARD:0021544""",ciliopathy,[] +"""GARD:0021545""",genetic syndromic pierre robin syndrome,[] +"""GARD:0021546""",genetic intractable diarrhea of infancy,[] +"""GARD:0021547""",genetic intestinal disease due to fat malabsorption,[] +"""GARD:0021548""",genetic intestinal polyposis,['familial intestinal polyposis'] +"""GARD:0021549""",tumor of testis and paratestis,['testicular and paratesticular tumor'] +"""GARD:0021550""",paratesticular adenocarcinoma,['adenocarcinoma of the paratestis'] +"""GARD:0021551""",sex cord-stromal tumor of testis,['testicular sex cord-stromal tumor'] +"""GARD:0021552""",acute encephalopathy with biphasic seizures and late reduced diffusion,"['aesd', 'aief', 'acute infantile encephalopathy predominantly affecting the frontal lobes']" +"""GARD:0021553""",acute encephalopathy with inflammation-mediated status epilepticus,[] +"""GARD:0021554""",gonadal germ cell tumor,[] +"""GARD:0021555""",lmna-related cardiocutaneous progeria syndrome,['lcps'] +"""GARD:0021556""",20q11.2 microduplication syndrome,['dup(20)(q11.2)'] +"""GARD:0021557""",2p13.2 microdeletion syndrome,['del(2)(p13.2)'] +"""GARD:0021558""",balint syndrome,"['balint-holmes syndrome', 'optic ataxia-gaze apraxia-simultanagnosia syndrome']" +"""GARD:0021559""",koolen-de vries syndrome due to a point mutation,[] +"""GARD:0021560""",autosomal recessive cerebral atrophy,[] +"""GARD:0021561""",immune hydrops fetalis,"['ihf', 'immune hf', 'immune fetal edema', 'immune fetal hydrops']" +"""GARD:0021562""",systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood,"['systemic ebv+ t-cell lpd of childhood', 'systemic ebv-positive t-cell lymphoproliferative disease of childhood']" +"""GARD:0021563""",hydroa vacciniforme-like lymphoma,"['angiocentric cutaneous t-cell lymphoma of childhood', 'hvll', 'hydroa-like cutaneous t-cell lymphoma']" +"""GARD:0021564""",alk-positive large b-cell lymphoma,"['alk+ lbcl', 'alk+ large b-cell lymphoma']" +"""GARD:0021565""",severe early-childhood-onset retinal dystrophy,"['eosrd', 'early-onset severe retinal dystrophy', 'secord']" +"""GARD:0021566""",bipartite talus,[] +"""GARD:0021567""",primary bone dysplasia,"['primary osteodysplasia', 'primary skeletal dysplasia']" +"""GARD:0021568""","primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments","['primary osteodysplasia with progressive ossification of skin; skeletal muscle; fascia; tendons and ligaments', 'primary skeletal dysplasia with progressive ossification of skin; skeletal muscle; fascia; tendons and ligaments']" +"""GARD:0021569""",primary bone dysplasia with micromelia,"['primary osteodysplasia with micromelia', 'primary skeletal dysplasia with micromelia']" +"""GARD:0021570""",otopalatodigital syndrome spectrum disorder,"['opd spectrum disorder', 'opsd']" +"""GARD:0021571""",dysostosis,[] +"""GARD:0021572""",dysostosis with limb anomaly as a major feature,[] +"""GARD:0021573""",dysostosis with limb and face anomalies as a major feature,[] +"""GARD:0021574""",acrofacial dysostosis,[] +"""GARD:0021575""",rare bone disease related to a common gene or pathway defect,[] +"""GARD:0021576""",aggrecan-related bone disorder,[] +"""GARD:0021577""",trpv4-related bone disorder,[] +"""GARD:0021578""",primary short bowel syndrome,[] +"""GARD:0021579""",intellectual disability-hyperkinetic movement-truncal ataxia syndrome,[] +"""GARD:0021580""",obesity due to sim1 deficiency,[] +"""GARD:0021581""",2p21 microdeletion syndrome without cystinuria,['del(2)(p21) without cystinuria'] +"""GARD:0021582""",homozygous 2p21 microdeletion syndrome,['2p21 contiguous gene deletion syndrome'] +"""GARD:0021583""",intellectual disability-seizures-macrocephaly-obesity syndrome,['der(8)t(8;12)'] +"""GARD:0021584""",finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome,[] +"""GARD:0021585""",intellectual disability-facial dysmorphism-hand anomalies syndrome,[] +"""GARD:0021586""","spondyloepimetaphyseal dysplasia, isidor type",[] +"""GARD:0021587""","spondylometaphyseal dysplasia, czarny-ratajczak type",[] +"""GARD:0021588""",acute myeloid leukemia with t(8;16)(p11;p13) translocation,['aml with t(8;16)(p11;p13) translocation'] +"""GARD:0021589""",familial syringomyelia,[] +"""GARD:0021590""",angora hair nevus,['schauder syndrome'] +"""GARD:0021591""",didymosis aplasticosebacea,['aplasia cutis congenita-nevus sebaceus syndrome'] +"""GARD:0021592""",scalp syndrome,"['sebaceous nevus-cns malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome', 'sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome']" +"""GARD:0021593""",nevada syndrome,['nevus epidermicus verrucosus with angiodysplasia and aneurysms'] +"""GARD:0021594""",fetal anticonvulsant syndrome,"['facs', 'fetal aeds', 'fetal antiepileptic drug syndrome']" +"""GARD:0021595""",fetal carbamazepine syndrome,[] +"""GARD:0021596""",rare disorder with dystonia and other neurologic or systemic manifestation,[] +"""GARD:0021597""",ataxia-telangiectasia variant,['v-at'] +"""GARD:0021598""",medich giant platelet syndrome,['medich macrothrombocytopenia'] +"""GARD:0021599""",xylt1-cdg,[] +"""GARD:0021600""",congenital muscular dystrophy with hyperlaxity,['cmdh'] +"""GARD:0021601""",qualitative or quantitative defects of alpha-dystroglycan,"['alpha-dystroglycanopathy', 'dystroglycanopathy']" +"""GARD:0021602""",primary qualitative or quantitative defects of alpha-dystroglycan,"['primary alpha-dystroglycanopathy', 'primary dystroglycanopathy']" +"""GARD:0021603""",congenital disorder of glycosylation with neurological involvement,['cdg with neurological involvement'] +"""GARD:0021604""",congenital disorder of glycosylation with epilepsy as a major feature,['cdg with epilepsy as a major feature'] +"""GARD:0021605""",congenital disorder of glycosylation with hepatic involvement,['cdg with hepatic involvement'] +"""GARD:0021606""",congenital disorder of glycosylation with dilated cardiomyopathy,['cdg with dilated cardiomyopathy'] +"""GARD:0021607""",congenital disorder of glycosylation with cardiac malformation as a major feature,['cdg with cardiac malformation as a major feature'] +"""GARD:0021608""",congenital disorder of glycosylation with intestinal involvement,['cdg with intestinal involvement'] +"""GARD:0021609""",congenital disorder of glycosylation-related bone disorder,['cdg-related bone disorder'] +"""GARD:0021610""",congenital disorder of glycosylation with skin involvement,['cdg with skin involvement'] +"""GARD:0021611""",congenital disorder of glycosylation with nephropathy as a major feature,['cdg with nephropathy as a major feature'] +"""GARD:0021612""",congenital disorder of glycosylation with deafness as a major feature,"['cdg with deafness as a major feature', 'cdg with hearing loss as a major feature', 'congenital disorder of glycosylation with hearing loss as a major feature']" +"""GARD:0021613""",genetic periodic paralysis,[] +"""GARD:0021614""",genetic neurovascular malformation,[] +"""GARD:0021615""",sphingolipidosis with epilepsy,[] +"""GARD:0021616""",genetic syndromic esophageal malformation,[] +"""GARD:0021617""",genetic hyperaldosteronism,[] +"""GARD:0021618""",generalized isolated dystonia,[] +"""GARD:0021619""",infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,[] +"""GARD:0021620""",fatal post-viral neurodegenerative disorder,[] +"""GARD:0021621""",growth retardation-mild developmental delay-chronic hepatitis syndrome,[] +"""GARD:0021622""",disorder of asparagine metabolism,[] +"""GARD:0021623""",adult-onset myasthenia gravis,"['adult-onset acquired myasthenia', 'adult-onset autoimmune myasthenia gravis']" +"""GARD:0021624""",juvenile myasthenia gravis,"['childhood myasthenia gravis', 'juvenile acquired myasthenia', 'juvenile autoimmune myasthenia gravis']" +"""GARD:0021625""",transient neonatal myasthenia gravis,"['nmg', 'neonatal myasthenia gravis', 'transient neonatal acquired myasthenia', 'transient neonatal autoimmune myasthenia gravis']" +"""GARD:0021626""",glomus tumor,[] +"""GARD:0021627""",off-periods in parkinson disease not responding to oral treatment,[] +"""GARD:0021628""",persistent combined dystonia,[] +"""GARD:0021629""",mucinous adenocarcinoma of the appendix,['appendiceal mucinous adenocarcinoma'] +"""GARD:0021630""",rare genetic dystonia,['rare genetic dystonic disorder'] +"""GARD:0021631""",deep dermatophytosis,['disseminated granulomatous dermatophytosis'] +"""GARD:0021632""",prp systemic amyloidosis,"['chronic diarrhea with hsan', 'chronic diarrhea with hereditary sensory and autonomic neuropathy', 'prion protein systemic amyloidosis']" +"""GARD:0021633""",3q27.3 microdeletion syndrome,['del(3)(q27.3)'] +"""GARD:0021634""",periodic paralysis with later-onset distal motor neuropathy,[] +"""GARD:0021635""",periodic paralysis with transient compartment-like syndrome,[] +"""GARD:0021636""",t+ b+ severe combined immunodeficiency,[] +"""GARD:0021637""",ferro-cerebro-cutaneous syndrome,['cerebro-cutaneous syndrome with iron overload'] +"""GARD:0021638""",adenocarcinoma of the penis,['penile adenocarcinoma'] +"""GARD:0021639""",squamous cell carcinoma of the penis,['penile squamous cell carcinoma'] +"""GARD:0021640""",refractory celiac disease,"['refractory cd', 'refractory sprue']" +"""GARD:0021641""",prader-willi-like syndrome,['pws-like'] +"""GARD:0021642""",sim1-related prader-willi-like syndrome,['sim1-related pwls'] +"""GARD:0021643""",secondary neonatal autoimmune disease,['transplacentally acquired neonatal autoimmune disease'] +"""GARD:0021644""",neonatal antiphospholipid syndrome,"['neonatal hughes syndrome', 'neonatal antiphospholipid antibody syndrome']" +"""GARD:0021645""",neonatal autoimmune hemolytic anemia,"['neonatal aha', 'neonatal aiha']" +"""GARD:0021646""",neonatal dermatomyositis,['neonatal dm'] +"""GARD:0021647""",neonatal lupus erythematosus,[] +"""GARD:0021648""",neonatal scleroderma,[] +"""GARD:0021649""",persistent idiopathic facial pain,"['afp', 'atypical facial pain', 'pifp']" +"""GARD:0021650""",malignant non-epithelial tumor of ovary,"['non-epithelial cancer of ovary', 'ovarian malignant non-epithelial tumor', 'ovarian non-epithelial cancer']" +"""GARD:0021651""",mucinous adenocarcinoma of ovary,['ovarian mucinous adenocarcinoma'] +"""GARD:0021652""",clear cell adenocarcinoma of the ovary,['ovarian clear cell adenocarcinoma'] +"""GARD:0021653""",primary peritoneal serous/papillary carcinoma,['ppspc'] +"""GARD:0021654""",malignant teratoma of ovary,"['immature teratoma of ovary', 'ovarian immature teratoma', 'ovarian malignant teratoma']" +"""GARD:0021655""",klhl9-related early-onset distal myopathy,[] +"""GARD:0021656""",distal nebulin myopathy,['nebulin-related early-onset distal myopathy'] +"""GARD:0021657""",osteonecrosis,['bone necrosis'] +"""GARD:0021658""",avascular necrosis,['avn'] +"""GARD:0021659""",secondary avascular necrosis,['secondary avn'] +"""GARD:0021660""",traumatic avascular necrosis,['traumatic avn'] +"""GARD:0021661""",secondary non-traumatic avascular necrosis,"['secondary non-traumatic avn', 'secondary non-traumatic osteonecrosis']" +"""GARD:0021662""",rare hereditary disease with avascular necrosis,[] +"""GARD:0021663""",osteonecrosis of the jaw,[] +"""GARD:0021664""",primary avascular necrosis,['primary avn'] +"""GARD:0021665""",idiopathic avascular necrosis,['idiopathic avn'] +"""GARD:0021666""",epiphysiolysis of the hip,"['epiphysiolysis of the upper femur', 'femoral head epiphysiolysis', 'scfe', 'sufe', 'slipped capital femoral epiphysis', 'slipped upper femoral epiphysis']" +"""GARD:0021667""",osteonecrosis of genetic origin,['bone necrosis of genetic origin'] +"""GARD:0021668""",avascular necrosis of genetic origin,[] +"""GARD:0021669""",osteochondrosis of genetic origin,[] +"""GARD:0021670""",rare male infertility due to hypothalamic-pituitary-gonadal axis disorder,"['rare male infertility due to gonadotropic axis disorder', 'rare male infertility due to hypothalamic-pituitary-testicular axis disorder']" +"""GARD:0021671""",rare male infertility due to adrenal disorder,[] +"""GARD:0021672""",rare male infertility due to testicular endocrine disorder,[] +"""GARD:0021673""",male infertility due to gonadal dysgenesis or sperm disorder,['male infertility due to testicular dysgenesis or sperm disorder'] +"""GARD:0021674""",male infertility due to sperm disorder,[] +"""GARD:0021675""",male infertility with spermatogenesis disorder,[] +"""GARD:0021676""",male infertility due to sperm motility disorder,['male infertility due to asthenozoospermia'] +"""GARD:0021677""",rare disorder with obstructive azoospermia,['rare disorder due to impaired sperm transport'] +"""GARD:0021678""",rare female infertility due to hypothalamic-pituitary-gonadal axis disorder,"['rare female infertility due to gonadotropic axis disorder', 'rare female infertility due to hypothalamic-pituitary-ovarian axis disorder']" +"""GARD:0021679""",rare female infertility due to a congenital hypogonadotropic hypogonadism,[] +"""GARD:0021680""",rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism,[] +"""GARD:0021681""",rare female infertility due to an adrenal disorder,[] +"""GARD:0021682""",rare female infertility due to an anomaly of ovarian function,[] +"""GARD:0021683""",rare female infertility due to gonadal dysgenesis,['rare female infertility due to ovarian dysgenesis'] +"""GARD:0021684""",rare female infertility due to an implantation defect,[] +"""GARD:0021685""",rare genetic male infertility,[] +"""GARD:0021686""",rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin,"['rare male infertility due to gonadotropic axis disorder of genetic origin', 'rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin']" +"""GARD:0021687""",rare male infertility due to adrenal disorder of genetic origin,[] +"""GARD:0021688""",male infertility due to obstructive azoospermia of genetic origin,['male infertility due to impaired sperm transport of genetic origin'] +"""GARD:0021689""",rare genetic disorder with obstructive azoospermia,['rare genetic disorder due to impaired sperm transport'] +"""GARD:0021690""",rare genetic female infertility,[] +"""GARD:0021691""",rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin,"['rare female infertility due to gonadotropic axis disorder of genetic origin', 'rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin']" +"""GARD:0021692""",rare female infertility due to adrenal disorder of genetic origin,[] +"""GARD:0021693""",rare female infertility due to an anomaly of ovarian function of genetic origin,[] +"""GARD:0021694""",female infertility due to an implantation defect of genetic origin,[] +"""GARD:0021695""",autosomal recessive spastic paraplegia type 59,['spg59'] +"""GARD:0021696""",autosomal recessive spastic paraplegia type 60,['spg60'] +"""GARD:0021697""",autosomal recessive spastic paraplegia type 66,['spg66'] +"""GARD:0021698""",autosomal recessive spastic paraplegia type 67,['spg67'] +"""GARD:0021699""",autosomal recessive spastic paraplegia type 69,['spg69'] +"""GARD:0021700""",autosomal recessive spastic paraplegia type 70,['spg70'] +"""GARD:0021701""",autosomal recessive spastic paraplegia type 71,['spg71'] +"""GARD:0021702""",huntington disease-like syndrome due to c9orf72 expansions,"['c9orf72-related huntington disease phenocopy', 'c9orf72-related huntington disease-like syndrome', 'huntington disease phenocopy due to c9orf72 expansions']" +"""GARD:0021703""",axin2-related attenuated familial adenomatous polyposis,"['axin2-related afap', 'axin2-related attenuated fap', 'axin2-related attenuated familial polyposis coli']" +"""GARD:0021704""",fibrolamellar hepatocellular carcinoma,"['fhcc', 'fibrolamellar hepatocarcinoma']" +"""GARD:0021705""",9q31.1q31.3 microdeletion syndrome,"['del(9)(q31.1q31.3)', 'monosomy 9q31.1q31.3']" +"""GARD:0021706""",14q24.1q24.3 microdeletion syndrome,"['del(14)(q24.1q24.3)', 'monosomy 14q24.1q24.3']" +"""GARD:0021707""",partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,[] +"""GARD:0021708""",cold-induced sweating syndrome-hyperthermia spectrum,[] +"""GARD:0021709""",lichen myxedematosus,[] +"""GARD:0021710""",acute myeloid leukemia with t(6;9)(p23;q34),['aml with t(6;9)(p23;q34)'] +"""GARD:0021711""",acute myeloid leukemia with t(9;11)(p22;q23),['aml with t(9;11)(p22;q23)'] +"""GARD:0021712""",megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13),['megakaryoblastic aml with t(1;22)(p13;q13)'] +"""GARD:0021713""",acute myeloid leukemia with npm1 somatic mutations,['aml with npm1 somatic mutations'] +"""GARD:0021714""",primary eosinophilic gastrointestinal disease,['egid'] +"""GARD:0021715""",eosinophilic colitis,[] +"""GARD:0021716""",hepatitis delta,"['hdv', 'hepatitis d virus']" +"""GARD:0021717""",fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome,[] +"""GARD:0021718""",rare female infertility due to oocyte maturation defect,[] +"""GARD:0021719""",autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome,[] +"""GARD:0021720""",chondromyxoid fibroma,[] +"""GARD:0021721""",clear cell papillary renal cell carcinoma,[] +"""GARD:0021722""",acquired cystic disease-associated renal cell carcinoma,[] +"""GARD:0021723""",spinal muscular atrophy with respiratory distress type 2,"['diaphragmatic spinal muscular atrophy type 2', 'smard2', 'severe infantile axonal neuropathy with respiratory failure type 2', 'x-linked spinal muscular atrophy with respiratory distress']" +"""GARD:0021724""",x-linked distal hereditary motor neuropathy,"['x-linked dhmn', 'x-linked distal spinal muscular atrophy']" +"""GARD:0021725""",dysostosis of genetic origin,[] +"""GARD:0021726""",dysostosis of genetic origin with limb anomaly as a major feature,[] +"""GARD:0021727""",genetic syndrome with limb reduction defects,[] +"""GARD:0021728""",genetic syndrome with limb malformations as a major feature,[] +"""GARD:0021729""",polyarticular juvenile idiopathic arthritis,"['juvenile polyarthritis', 'juvenile polyarticular arthritis', 'polyarticular jia']" +"""GARD:0021730""",rare genetic bone development disorder,['rare genetic skeletal development disorder'] +"""GARD:0021731""",williams-campbell syndrome,[] +"""GARD:0021732""",angelman syndrome due to a point mutation,[] +"""GARD:0021733""",angelman syndrome due to imprinting defect in 15q11-q13,[] +"""GARD:0021734""",central retinal vein occlusion,['crvo'] +"""GARD:0021735""",proton-pump inhibitor-responsive esophageal eosinophilia,"['ppi-ree', 'ppi-responsive esophageal eosinophilia', 'ppiree']" +"""GARD:0021736""",generalized eruptive keratoacanthoma,"['geka', 'generalized eruptive keratoacanthomas of grzybowski', 'grzybowski syndrome']" +"""GARD:0021737""",13q12.3 microdeletion syndrome,"['del(13)(q12.3)', 'monosomy 13q12.3']" +"""GARD:0021738""",prkar1b-related neurodegenerative dementia with intermediate filaments,[] +"""GARD:0021739""",dystonia-aphonia syndrome,[] +"""GARD:0021740""",genetic facial cleft,['genetic craniofacial cleft'] +"""GARD:0021741""","carcinoma of esophagus, salivary gland type",['esophageal carcinoma; salivary gland type'] +"""GARD:0021742""",undifferentiated carcinoma of esophagus,['undifferentiated esophageal carcinoma'] +"""GARD:0021743""",squamous cell carcinoma of the stomach,['gastric squamous cell carcinoma'] +"""GARD:0021744""",secondary pulmonary alveolar proteinosis,['secondary pap'] +"""GARD:0021745""",semicircular canal dehiscence syndrome,['scd syndrome'] +"""GARD:0021746""","glycogen storage disease due to acid maltase deficiency, late-onset","['alpha-1;4-glucosidase acid deficiency; late-onset', 'gsd due to acid maltase deficiency; late-onset', 'gsd type 2; late-onset', 'gsd type ii; late-onset', 'glycogen storage disease type 2; late-onset', 'glycogen storage disease type ii; late-onset', 'glycogenosis type 2; late-onset', 'glycogenosis type ii; late-onset', 'pompe disease; late-onset']" +"""GARD:0021747""",autosomal recessive severe congenital neutropenia due to cxcr2 deficiency,[] +"""GARD:0021748""",rare genetic odontal or periodontal disorder,[] +"""GARD:0021749""",autoimmune encephalopathy with parasomnia and obstructive sleep apnea,"['anti-iglon5 disease', 'anti-iglon5 syndrome']" +"""GARD:0021750""",cono-spondylar dysplasia,['short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome'] +"""GARD:0021751""",microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,[] +"""GARD:0021752""",x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome,[] +"""GARD:0021753""",arx-related encephalopathy-brain malformation spectrum,[] +"""GARD:0021754""",rare autonomic nervous system disorder,[] +"""GARD:0021755""",double outlet right ventricle with subaortic or doubly committed ventricular septal defect,['dorv with subaortic or doubly committed vsd'] +"""GARD:0021756""","double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy",['dorv with atrioventricular septal defect; pulmonary stenosis; heterotaxy'] +"""GARD:0021757""",rare carcinoma of stomach,['rare gastric carcinoma'] +"""GARD:0021758""",hereditary gastric cancer,['hereditary cancer of stomach'] +"""GARD:0021759""",undifferentiated carcinoma of stomach,['undifferentiated gastric carcinoma'] +"""GARD:0021760""",rare tumor of small intestine,['rare tumor of small bowel'] +"""GARD:0021761""",mesenchymal tumor of small intestine,['mesenchymal tumor of small bowel'] +"""GARD:0021762""",microcephaly-complex motor and sensory axonal neuropathy syndrome,[] +"""GARD:0021763""",rare carcinoma of small intestine,['rare carcinoma of small bowel'] +"""GARD:0021764""",squamous cell carcinoma of the small intestine,['squamous cell carcinoma of the small bowel'] +"""GARD:0021765""",neuroendocrine tumor of the small intestine,"['net of the small intestine', 'neuroendocrine neoplasm of the small intestine', 'neuroendocrine tumor of small bowel']" +"""GARD:0021766""",epithelial tumor of the appendix,['appendiceal epithelial tumor'] +"""GARD:0021767""",rare epithelial tumor of colon,[] +"""GARD:0021768""",squamous cell carcinoma of the colon,[] +"""GARD:0021769""",rare epithelial tumor of rectum,['rare rectal epithelial tumor'] +"""GARD:0021770""",squamous cell carcinoma of the rectum,['rectal squamous cell carcinoma'] +"""GARD:0021771""",epithelial tumor of anal canal,[] +"""GARD:0021772""",carcinoma of the anal canal,[] +"""GARD:0021773""",adenocarcinoma of the anal canal,[] +"""GARD:0021774""",squamous cell carcinoma of the anal canal,[] +"""GARD:0021775""",rare epithelial tumor of pancreas,['rare pancreatic epithelial tumor'] +"""GARD:0021776""",squamous cell carcinoma of pancreas,['pancreatic squamous cell carcinoma'] +"""GARD:0021777""",acinar cell carcinoma of pancreas,['pancreatic acinar cell carcinoma'] +"""GARD:0021778""",mucinous cystadenocarcinoma of the pancreas,['pancreatic mucinous cystadenocarcinoma'] +"""GARD:0021779""",intraductal papillary mucinous carcinoma of pancreas,"['ipmn', 'pancreatic intraductal papillary mucinous carcinoma']" +"""GARD:0021780""",solid pseudopapillary carcinoma of pancreas,"['pancreatic solid pseudopapillary carcinoma', 'solid pseudopapillary neoplasm of the pancreas']" +"""GARD:0021781""",serous cystadenocarcinoma of pancreas,['pancreatic serous cystadenocarcinoma'] +"""GARD:0021782""",osteoclastic giant cell tumor of pancreas,"['ogct of pancreas', 'pancreatic osteoclastic giant cell tumor', 'pancreatic undifferentiated carcinoma with osteoclast-like giant cells', 'undifferentiated carcinoma of pancreas with osteoclast-like giant cells']" +"""GARD:0021783""",congenital myopathy with myasthenic-like onset,[] +"""GARD:0021784""",qualitative or quantitative defects of torsin-1a-interacting protein 1,[] +"""GARD:0021785""",rare malignant epithelial tumor of liver and intrahepatic biliary tract,['rare malignant epithelial tumor of liver and ibt'] +"""GARD:0021786""",carcinoma of liver and intrahepatic biliary tract,['carcinoma of liver and ibt'] +"""GARD:0021787""",adenocarcinoma of the liver and intrahepatic biliary tract,['adenocarcinoma of the liver and ibt'] +"""GARD:0021788""",undifferentiated carcinoma of liver and intrahepatic biliary tract,['undifferentiated carcinoma of liver and ibt'] +"""GARD:0021789""",squamous cell carcinoma of liver and intrahepatic biliary tract,['squamous cell carcinoma of liver and ibt'] +"""GARD:0021790""",biliary cystadenocarcinoma,['intrahepatic bile duct cystadenocarcinoma'] +"""GARD:0021791""",adenocarcinoma of the gallbladder and extrahepatic biliary tract,['adenocarcinoma of the gallbladder and ebt'] +"""GARD:0021792""",squamous cell carcinoma of gallbladder and extrahepatic biliary tract,['squamous cell carcinoma of gallblader and ebt'] +"""GARD:0021793""",inherited digestive cancer-predisposing syndrome,[] +"""GARD:0021794""",rare epithelial tumor of small intestine,['rare epithelial tumor of small bowel'] +"""GARD:0021795""",primary immunodeficiency with predisposition to severe viral infection,[] +"""GARD:0021796""",late-onset scapuloperoneal muscular dystrophy with hyaline bodies,"['late-onset spmd with hyaline bodies', 'late-onset scapuloperoneal syndrome; myopathic type']" +"""GARD:0021797""",spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder,['spoan and spoan-related disorder'] +"""GARD:0021798""",patent urachus,[] +"""GARD:0021799""",urachal sinus,[] +"""GARD:0021800""",urachal diverticulum,['vesicourachal diverticulum'] +"""GARD:0021801""",pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,[] +"""GARD:0021802""",rare genetic autonomic nervous system disorder,[] +"""GARD:0021803""",syndrome with woolly hair,[] +"""GARD:0021804""",fetal lower urinary tract obstruction,['luto'] +"""GARD:0021805""",anterior urethral valve,[] +"""GARD:0021806""",genetic precocious puberty,[] +"""GARD:0021807""",precocious puberty in female,[] +"""GARD:0021808""",genetic precocious puberty in female,[] +"""GARD:0021809""",genetic otorhinolaryngological malformation,[] +"""GARD:0021810""",genetic nose and cavum anomaly,[] +"""GARD:0021811""",genetic larynx anomaly,[] +"""GARD:0021812""",genetic tracheal anomaly,[] +"""GARD:0021813""",3p25.3 microdeletion syndrome,"['del(3)p(25.3)', 'intellectual disability-epilepsy-stereotypic hand movement syndrome', 'monosomy 3p25.3']" +"""GARD:0021814""",congenital urachal anomaly,[] +"""GARD:0021815""",autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation,['cmt2 due to tfg mutation'] +"""GARD:0021816""",contractures-developmental delay-pierre robin syndrome,['5q23 microdeletion syndrome'] +"""GARD:0021817""",severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome,[] +"""GARD:0021818""",intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,[] +"""GARD:0021819""",non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy,[] +"""GARD:0021820""",pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,['pxe-like syndrome with retinitis pigmentosa'] +"""GARD:0021821""",disorder of keton body transport,[] +"""GARD:0021822""",human infection by orthopoxvirus,[] +"""GARD:0021823""",placental insufficiency,['uteroplacental vascular insufficiency'] +"""GARD:0021824""",pediatric arterial ischemic stroke,"['childhood ais', 'childhood arterial ischemic stroke', 'pediatric ais']" +"""GARD:0021825""",zinc-responsive necrolytic acral erythema,"['nae', 'necrolytic acral erythema']" +"""GARD:0021826""",non-recovering obstetric brachial plexus lesion,"['chronic obstetric brachial plexus injury', 'chronic obstetric brachial plexus palsy', 'non-recovering obpi', 'non-recovering obpl']" +"""GARD:0021827""",alect2 amyloidosis,['leukocyte chemotactic factor-2 amyloidosis'] +"""GARD:0021828""",aapoaiv amyloidosis,['apolipoprotein a-iv amyloidosis'] +"""GARD:0021829""",abeta2m amyloidosis,['beta2-microglobulinic amyloidosis'] +"""GARD:0021830""",primary polyarteritis nodosa,"['primary pan', 'primary periarteritis nodosa']" +"""GARD:0021831""",secondary polyarteritis nodosa,"['secondary pan', 'secondary periarteritis nodosa']" +"""GARD:0021832""",single-organ polyarteritis nodosa,"['single-organ pan', 'single-organ periarteritis nodosa']" +"""GARD:0021833""",systemic polyarteritis nodosa,"['systemic pan', 'systemic periarteritis nodosa']" +"""GARD:0021834""",autosomal recessive severe congenital neutropenia,[] +"""GARD:0021835""",plastic bronchitis,"['croupous bronchitis', 'fibrinous bronchitis', 'pseudo-membranous bronchitis']" +"""GARD:0021836""",congenital oculomotor nerve palsy,"['congenital cniii lesion', 'congenital third cranial nerve palsy']" +"""GARD:0021837""",congenital abducens nerve palsy,"['benign congenital sixth cranial nerve palsy', 'congenital cnvi palsy']" +"""GARD:0021838""",autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,['autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome'] +"""GARD:0021839""",necrotizing soft tissue infection,['nsti'] +"""GARD:0021840""",familial colorectal cancer type x,['fcctx'] +"""GARD:0021841""",disorders of pentose/polyol metabolism,[] +"""GARD:0021842""",extensive peripapillary myelinated nerve fibers,[] +"""GARD:0021843""",combined hamartoma of the retina and retinal pigment epithelium,"['chr-rpe', 'combined hamartoma of the retina and rpe']" +"""GARD:0021844""",isolated agenesis of gallbladder,[] +"""GARD:0021845""",syndromic hereditary optic neuropathy,[] +"""GARD:0021846""",early-onset posterior subcapsular cataract,[] +"""GARD:0021847""",ah amyloidosis,['heavy chain amyloidosis'] +"""GARD:0021848""","46,xy disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect",[] +"""GARD:0021849""",hyperinsulinemic hypoglycaemia,[] +"""GARD:0021850""",hypothalamic adipsic hypernatraemia syndrome,[] +"""GARD:0021851""",lymphoplasmacytic lymphoma without igm production,['lymphoplasmacytic lymphoma without immunoglobulin m production'] +"""GARD:0021852""",nut midline carcinoma,['nmc'] +"""GARD:0021853""",postpartum psychosis,['puerperal psychosis'] +"""GARD:0021854""",spontaneous intracranial hypotension,['spontaneous cerebrospinal fluid leak'] +"""GARD:0021855""",paratyphoid fever,[] +"""GARD:0021856""",acth-independent cushing syndrome due to rare cortisol-producing adrenal tumor,[] +"""GARD:0021857""",hiv-associated cancer,['hiv-related cancer'] +"""GARD:0021858""",11q22.2q22.3 microdeletion syndrome,"['del(11)(q22.2q22.3)', 'monosomy 11q22.2q22.3']" +"""GARD:0021859""",20q11.2 microdeletion syndrome,"['del(20)(q11.2)', 'monosomy 20q11']" +"""GARD:0021860""",idiopathic phalangeal acro-osteolysis,['idiopathic phalangeal acroosteolysis'] +"""GARD:0021861""",pseudohypoaldosteronism,[] +"""GARD:0021862""",caudal regression-sirenomelia spectrum,[] +"""GARD:0021863""",secondary vasculitis,[] +"""GARD:0021864""",nik deficiency,['primary immunodeficiency with multifaceted aberrant lymphoid immunity'] +"""GARD:0021865""",susceptibility to localized juvenile periodontitis,[] +"""GARD:0021866""",autosomal dominant spastic paraplegia type 9b,['ad-spg9b'] +"""GARD:0021867""",igg4-related sclerosing cholangitis,[] +"""GARD:0021868""",sclerosing cholangitis,[] +"""GARD:0021869""",secondary sclerosing cholangitis,[] +"""GARD:0021870""",keratocystic odontogenic tumor,"['ktoc', 'odontogenic keratocystoma']" +"""GARD:0021871""",cerebral visual impairment,['cortical visual impairment'] +"""GARD:0021872""",lipoyl transferase 2 deficiency,[] +"""GARD:0021873""",biological anomaly without phenotypic characterization,[] +"""GARD:0021874""",idiopathic dropped head syndrome,['isolated neck extensor myopathy'] +"""GARD:0021875""",19p13.3 microduplication syndrome,['dup(19)(p13.13)'] +"""GARD:0021876""",partial duplication of the short arm of chromosome 19,"['partial duplication of chromosome 19p', 'partial trisomy of chromosome 19p', 'partial trisomy of the short arm of chromosome 19']" +"""GARD:0021877""",ectopia cordis,[] +"""GARD:0021878""",genetic primary orthostatic hypotension,[] +"""GARD:0021879""",pleural empyema,[] +"""GARD:0021880""",scedosporiosis,[] +"""GARD:0021881""",snakebite envenomation,[] +"""GARD:0021882""",igg4-related kidney disease,[] +"""GARD:0021883""",igg4-related aortitis,[] +"""GARD:0021884""",igg4-related submandibular gland disease,['küttner tumor'] +"""GARD:0021885""",igg4-related ophthalmic disease,[] +"""GARD:0021886""",eosinophilic angiocentric fibrosis,['igg4-related eosinophilic angiocentric fibrosis'] +"""GARD:0021887""",polyclonal hyperviscosity syndrome,[] +"""GARD:0021888""",primary cutaneous plasmacytosis,[] +"""GARD:0021889""",cutaneous pseudolymphoma,[] +"""GARD:0021890""",congenital insensitivity to pain with severe intellectual disability,"['congenital absence of pain with severe intellectual disability', 'congenital analgesia with severe intellectual disability', 'congenital insensitivity to pain with preserved temperature sensation', 'congenital insensitivity to pain with severe non-progressive cognitive delay']" +"""GARD:0021891""",progressive muscular atrophy,['pma'] +"""GARD:0021892""",anti-p200 pemphigoid,[] +"""GARD:0021893""",endometrioid carcinoma of ovary,[] +"""GARD:0021894""",variably protease-sensitive prionopathy,[] +"""GARD:0021895""",isolated tracheoesophageal fistula,['h-type tracheoesophageal fistula'] +"""GARD:0021896""",acute radiation syndrome,['acute radiation sickness'] +"""GARD:0021897""",avian influenza,[] +"""GARD:0021898""",1p35.2 microdeletion syndrome,"['del(1)(p35.2)', 'deletion 1p35.2', 'monosomy 1p35.2']" +"""GARD:0021899""",hereditary neuroendocrine tumor of small intestine,['hereditary neuroendocrine tumor of small bowel'] +"""GARD:0021900""",pseudohypoparathyroidism without albright hereditary osteodystrophy,[] +"""GARD:0021901""",congenital nemaline myopathy,[] +"""GARD:0021902""",tafro syndrome,['thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome'] +"""GARD:0021903""",isolated splenogonadal fusion,['sgf'] +"""GARD:0021904""",infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,"['anoac', 'axonal neuropathy-optic atrophy-cognitive deficit syndrome']" +"""GARD:0021905""",clear cell sarcoma of kidney,['ccsk'] +"""GARD:0021906""",intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome,[] +"""GARD:0021907""",composite hemangioendothelioma,[] +"""GARD:0021908""",retiform hemangioendothelioma,[] +"""GARD:0021909""",primary intralymphatic angioendothelioma,['dabska tumor'] +"""GARD:0021910""",congenital hemangioma,[] +"""GARD:0021911""",partially involuting congenital hemangioma,[] +"""GARD:0021912""",mixed cystic lymphatic malformation,['mixed cystic lymphangioma'] +"""GARD:0021913""",vascular tumor with associated anomalies,[] +"""GARD:0021914""",rare capillary malformation with associated anomalies,[] +"""GARD:0021915""",common cystic lymphatic malformation,[] +"""GARD:0021916""",rare combined vascular malformation,[] +"""GARD:0021917""",rare vascular malformation of major vessels,[] +"""GARD:0021918""",corpus callosum agenesis-macrocephaly-hypertelorism syndrome,"['7q36.3 microduplication syndrome', 'dup(7)(q36.3)']" +"""GARD:0021919""",immunodeficiency due to a complement cascade component deficiency,[] +"""GARD:0021920""",immunodeficiency due to a complement regulatory deficiency,[] +"""GARD:0021921""",rare genetic capillary malformation,[] +"""GARD:0021922""",genetic complex vascular malformation with associated anomalies,['genetic hemangiolymphangioma'] +"""GARD:0021923""",rare genetic vascular tumor,[] +"""GARD:0021924""",rare genetic venous malformation,[] +"""GARD:0021925""",lethal multiple congenital anomalies/dysmorphic syndrome,[] +"""GARD:0021926""",intellectual disability syndrome due to a dyrk1a point mutation,['dyrk1a-related intellectual disability syndrome due to a point mutation'] +"""GARD:0021927""",verrucous hemangioma,[] +"""GARD:0021928""",benign metanephric tumor,[] +"""GARD:0021929""",neonatal alloimmune neutropenia,[] +"""GARD:0021930""",acquired methemoglobinemia,['drug-induced methemoglobinemia'] +"""GARD:0021931""",paracetamol poisoning,['acetaminophen poisoning'] +"""GARD:0021932""",familial gastric type 1 neuroendocrine tumor,[] +"""GARD:0021933""",immune-mediated acquired neuromuscular junction disease,[] +"""GARD:0021934""",genetic hemoglobinopathy,[] +"""GARD:0021935""",genetic otorhinolaryngologic disease,[] +"""GARD:0021936""",exercise-induced malignant hyperthermia,['exertional heat stroke'] +"""GARD:0021937""",rare disease with malignant hyperthermia,[] +"""GARD:0021938""",cyanide poisoning,[] +"""GARD:0021939""",scorpion envenomation,[] +"""GARD:0021940""",euthyroid graves orbitopathy,['euthyroid graves ophthalmopathy'] +"""GARD:0021941""",supratip dysplasia,[] +"""GARD:0021942""",childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,[] +"""GARD:0021943""",smarca4-deficient sarcoma of thorax,['smarca4-deficient thoracic sarcoma'] +"""GARD:0021944""",tubulinopathy-associated dysgyria,['brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome'] +"""GARD:0021945""",cryptogenic multifocal ulcerous stenosing enteritis,['cmuse'] +"""GARD:0021946""",chronic enteropathy associated with slco2a1 gene,['ceas'] +"""GARD:0021947""",genetic lethal multiple congenital anomalies/dysmorphic syndrome,[] +"""GARD:0021948""",rare congenital anomaly of ventricular septum,"['congenital anomaly of interventricular communication', 'congenital ventricular septal anomaly']" +"""GARD:0021949""",autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,[] +"""GARD:0021950""",erythrokeratodermia-cardiomyopathy syndrome,['ekc syndrome'] +"""GARD:0021951""",axonal hereditary motor and sensory neuropathy,['axonal hmsn'] +"""GARD:0021952""",demyelinating hereditary motor and sensory neuropathy,['demyelinating hmsn'] +"""GARD:0021953""",autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,[] +"""GARD:0021954""",intermediate charcot-marie-tooth disease,"['intermediate cmt', 'intermediate hereditary motor and sensory neuropathy']" +"""GARD:0021955""",hypercontractile muscle stiffness syndrome,[] +"""GARD:0021956""",congenital generalized hypercontractile muscle stiffness syndrome,[] +"""GARD:0021957""",type 1 interferonopathy,[] +"""GARD:0021958""",fibroblastic rheumatism,[] +"""GARD:0021959""",nodular fasciitis,"['pseudosarcomatous fasciitis', 'pseudosarcomatous fibromatosis']" +"""GARD:0021960""",genetic cerebral small vessel disease,[] +"""GARD:0021961""",col4a1 or col4a2-related cerebral small vessel disease,['col4a1 or col4a2-related cerebral angiopathy'] +"""GARD:0021962""",col4a1 or col4a2-related cerebral small vessel disease with ischemic tendancy,['col4a1 or col4a2-related cerebral angiopathy with ischemic tendancy'] +"""GARD:0021963""",col4a1 or col4a2-related cerebral small vessel disease with hemorrhagic tendancy,['col4a1 or col4a2-related cerebral angiopathy with hemorrhagic tendancy'] +"""GARD:0021964""",moyamoya angiopathy,[] +"""GARD:0021965""",rare disorder with a moyamoya angiopathy,[] +"""GARD:0021966""",primary condylar hyperplasia,['type 1 condylar hyperplasia'] +"""GARD:0021967""",syndromic constitutional thrombocytopenia,[] +"""GARD:0021968""",isolated constitutional thrombocytopenia,"['constitutional thrombocytopenia without extra-hematopoietic manifestations', 'non-syndromic constitutional thrombocytopenia']" +"""GARD:0021969""",genetic cardiac malformation,[] +"""GARD:0021970""",other genetic dermis disorder,[] +"""GARD:0021971""",rare hypercholesterolemia,[] +"""GARD:0021972""",myo5b-related progressive familial intrahepatic cholestasis,['myo5b deficiency'] +"""GARD:0021973""",choledochal cyst,['congenital cystic dilatation of the biliary tract'] +"""GARD:0021974""",primary intrahepatic lithiasis,"['pihl', 'primary hepatolithiasis']" +"""GARD:0021975""",idiopathic ductopenia,"['iad', 'idiopathic adult ductopenia']" +"""GARD:0021976""",caroli syndrome,[] +"""GARD:0021977""",idiopathic peliosis hepatis,['idiopathic peliosis hepatitis'] +"""GARD:0021978""",lethal hydranencephaly-diaphragmatic hernia syndrome,[] +"""GARD:0021979""",congenital portosystemic shunt,['congenital portosystemic venous fistula'] +"""GARD:0021980""",high grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement,[] +"""GARD:0021981""",non-severe combined immunodeficiency,['non-scid'] +"""GARD:0021982""",aneurysmal bone cyst,[] +"""GARD:0021983""",isolated neonatal sclerosing cholangitis,[] +"""GARD:0021984""",facial diplegia with paresthesias,"['facial diplegia with paresthesias variant of gbs', 'facial diplegia with paresthesias variant of guillain-barré syndrome']" +"""GARD:0021985""",gastroenteric neuroendocrine neoplasm,[] +"""GARD:0021986""",type 1 interferonopathy of childhood,[] +"""GARD:0021987""",genetic alopecia,[] +"""GARD:0021988""",htra1-related cerebral small vessel disease,['htra1-related cerebral angiopathy'] +"""GARD:0021989""",rare idiopathic macular telangiectasia,[] +"""GARD:0021990""",x-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,[] +"""GARD:0021991""",propylthiouracil embryofetopathy,"['ptu embryofetopathy', 'ptu embryopathy', 'propylthiouracil embryopathy']" +"""GARD:0021992""",genetic non-acquired premature ovarian failure,[] +"""GARD:0021993""",16p12.1p12.3 triplication syndrome,"['tetrasomy 16p12.1p12.3', 'trip(16)(p12.1p12.3)']" +"""GARD:0021994""",emilin-1-related connective tissue disease,[] +"""GARD:0021995""",isolated congenital hepatic fibrosis,['isolated chf'] +"""GARD:0021996""",congenital bile acid synthesis defect,['basd'] +"""GARD:0021997""",rare pediatric rheumatologic disease,[] +"""GARD:0021998""",pediatric collagenous gastritis,['childhood-onset collagenous gastritis'] +"""GARD:0021999""",autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation,['cmt2 due to dgat2 mutation'] +"""GARD:0022000""",acute macular neuroretinopathy,['amnr'] +"""GARD:0022001""",six2-related frontonasal dysplasia,['six2-related fnd'] +"""GARD:0022002""",congenital amyoplasia,['amyoplasia congenita'] +"""GARD:0022003""",extracranial carotid artery aneurysm,"['ecaa', 'ecca']" +"""GARD:0022004""",idiopathic pleuroparenchymal fibroelastosis,"['ippfe', 'idiopathic pleuropulmonary fibroelastosis']" +"""GARD:0022005""",vulvar squamous cell carcinoma,['squamous cell carcinoma of the vulva'] +"""GARD:0022006""",vulvar basal cell carcinoma,['basal cell carcinoma of vulva'] +"""GARD:0022007""",vulvar adenocarcinoma,['adenocarcinoma of the vulva'] +"""GARD:0022008""",rare hyperkinetic movement disorder,[] +"""GARD:0022009""",9q33.3q34.11 microdeletion syndrome,"['del(9)(q33.3q34.11)', 'deletion 9q33.3q34.11', 'monosomy 9q33.3q34.11']" +"""GARD:0022010""",congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,['congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome'] +"""GARD:0022011""",congenital agenesis of the scrotum,"['congenital absence of the scrotum', 'congenital scrotal absence', 'congenital scrotal agenesis']" +"""GARD:0022012""",kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,['kyphoscoliosis-lateral tongue atrophy-hsp syndrome'] +"""GARD:0022013""",rare genetic hyperkinetic movement disorder,[] +"""GARD:0022014""",non-inflammatory vasculopathy,[] +"""GARD:0022015""",c12orf65-related combined oxidative phosphorylation defect,['c12orf65-related coxpd'] +"""GARD:0022016""",epidermolytic nevus,"['epidermal nevus with epidermolytic hyperkeratosis', 'epidermolytic epidermal nevus', 'epidermolytic verrucous epidermal nevus']" +"""GARD:0022017""",menstrual cycle-dependent periodic fever,"['luteal-phase-dependent febrile episode', 'luteal-phase-dependent periodic fever', 'menstrual cycle-dependent febrile episode']" +"""GARD:0022018""",biliary atresia and associated disorders,[] +"""GARD:0022019""",syndromic biliary atresia,[] +"""GARD:0022020""",genetic inflammatory or rheumatoid-like osteoarthropathy,[] +"""GARD:0022021""",overgrowth or tall stature syndrome with skeletal involvement,[] +"""GARD:0022022""",dysostosis with brachydactyly without extraskeletal manifestations,[] +"""GARD:0022023""",dysostosis with brachydactyly with extraskeletal manifestations,[] +"""GARD:0022024""",longitudinal limb defect,[] +"""GARD:0022025""",terminal transverse limb defect,[] +"""GARD:0022026""",non-syndromic preaxial polydactyly,[] +"""GARD:0022027""",non-syndromic postaxial polydactyly,[] +"""GARD:0022028""",non-syndromic complex polydactyly,[] +"""GARD:0022029""",hyaline fibromatosis syndrome,[] +"""GARD:0022030""",ectrodactyly with and without other manifestations,[] +"""GARD:0022031""",lrp5-related primary osteoporosis,[] +"""GARD:0022032""",overgrowth syndrome with 2q37 translocation,[] +"""GARD:0022033""",complete hemimelia,[] +"""GARD:0022034""",mirror-image polydactyly,[] +"""GARD:0022035""",mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,['mybpc1-related autosomal recessive non-lethal amc syndrome'] +"""GARD:0022036""",congenital syphilis,"['mtct of syphilis', 'mother-to-child transmission of syphilis']" +"""GARD:0022037""",autoimmune/inflammatory optic neuropathy,[] +"""GARD:0022038""",chronic relapsing inflammatory optic neuropathy,"['crion', 'chronic recurrent isolated optic neuritis']" +"""GARD:0022039""",isolated optic neuritis,['ion'] +"""GARD:0022040""",recurrent idiopathic neuroretinitis,['rinr'] +"""GARD:0022041""",idiopathic optic perineuritis,['idiopathic opn'] +"""GARD:0022042""",pilomatrix carcinoma,"['calcified epithelial carcinoma of malherbe', 'calcifying epitheliocarcinoma', 'malignant pilomatricoma', 'trichomatrical carcinoma']" +"""GARD:0022043""",witteveen-kolk syndrome,"['sin3a-related intellectual disability syndrome', 'witkos']" +"""GARD:0022044""",cochleovestibular malformation,[] +"""GARD:0022045""",cochlear nerve deficiency,[] +"""GARD:0022046""",squamous cell carcinoma of oral cavity and lip,[] +"""GARD:0022047""",metopic ridging-ptosis-facial dysmorphism syndrome,[] +"""GARD:0022048""",4q25 proximal deletion syndrome,"['proximal del(4)(q25)', 'proximal monosomy 4q25']" +"""GARD:0022049""",erythema multiforme major,"['erythema exsudativum multiforme majus', 'erythema multiforme majus']" +"""GARD:0022050""",3-methylglutaconic aciduria type 8,['mga8'] +"""GARD:0022051""",ventilator-induced diaphragmatic dysfunction,['vidd'] +"""GARD:0022052""",neuroendocrine neoplasm of pancreas,"['pnen', 'pancreatic nen', 'pancreatic neuroendocrine neoplasm']" +"""GARD:0022053""",functioning neuroendocrine tumor of pancreas,"['functioning pnet', 'functioning pancreatic net', 'functioning pancreatic neuroendocrine tumor', 'functioning well-differentiated nen of pancreas', 'functioning well-differentiated neuroendocrine neoplasm of pancreas', 'functioning well-differentiated pancreatic nen', 'functioning well-differentiated pancreatic neuroendocrine neoplasm']" +"""GARD:0022054""",non-functioning neuroendocrine tumor of pancreas,"['non-functioning pnet', 'non-functioning pancreatic net', 'non-functioning pancreatic neuroendocrine tumor', 'non-functioning well-differentiated nen of pancreas', 'non-functioning well-differentiated neuroendocrine neoplasm of pancreas', 'non-functioning well-differentiated pancreatic nen', 'non-functioning well-differentiated pancreatic neuroendocrine neoplasm']" +"""GARD:0022055""",serotonin-producing neuroendocrine tumor of pancreas,"['serotonin-producing pnet', 'serotonin-producing pancreatic net', 'serotonin-producing pancreatic neuroendocrine tumor']" +"""GARD:0022056""",neuroendocrine carcinoma of pancreas,"['pancreatic nec', 'pancreatic neuroendocrine carcinoma', 'poorly-differentiated nen of pancreas', 'poorly-differentiated neuroendocrine neoplasm of pancreas', 'poorly-differentiated pancreatic nen', 'poorly-differentiated pancreatic neuroendocrine neoplasm']" +"""GARD:0022057""",mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas,"['minen of pancreas', 'pancreatic minen', 'pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm']" +"""GARD:0022058""",neuroendocrine neoplasm of esophagus,"['esophageal nen', 'esophageal neuroendocrine neoplasm', 'nen of esophagus']" +"""GARD:0022059""",rare disorder potentially indicated for transplant,[] +"""GARD:0022060""",rare disorder potentially indicated for liver transplant,[] +"""GARD:0022061""",rare disorder potentially indicated for kidney transplant,[] +"""GARD:0022062""",rare disorder potentially indicated for bowel transplant,[] +"""GARD:0022063""",rare disorder potentially indicated for hematopoietic stem cell transplant,[] +"""GARD:0022064""",rare disorder potentially indicated for lung transplant,[] +"""GARD:0022065""",rare disorder potentially indicated for heart transplant,[] +"""GARD:0022066""",stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome,"['sjs/ten overlap syndrome', 'stevens-johnson/ten overlap syndrome', 'stevens-johnson/toxic epidermal necrolysis overlap syndrome']" +"""GARD:0022067""",familial intestinal malrotation,[] +"""GARD:0022068""",cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,"['cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome', 'hyaluronidase 2 deficiency']" +"""GARD:0022069""",oral-facial-digital syndrome with short stature and brachymesophalangy,"['ofd18', 'oral-facial-digital syndrome type 18', 'orofaciodigital syndrome type 18']" +"""GARD:0022070""",skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome,"['extl3-related neuro-immuno-skeletal dysplasia syndrome', 'neuro-immuno-skeletal dysplasia syndrome due to extl3 deficiency']" +"""GARD:0022071""",congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome,['mysm1 deficiency'] +"""GARD:0022072""",chronic lymphoproliferative disorder of natural killer cells,"['clpd-nk', 'cnkl', 'chronic nk lymphocytosis', 'chronic nk-cell lymphocytosis', 'chronic lymphoproliferative disorder of nk-cells', 'nk-cell lineage granular lymphocyte proliferative disorder']" +"""GARD:0022073""",large granular lymphocyte leukemia,[] +"""GARD:0022074""",autosomal recessive epidermolytic ichthyosis,['arei'] +"""GARD:0022075""",congenital cerebellar ataxia due to rnu12 mutation,[] +"""GARD:0022076""",congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome,['serpentine-like syndrome'] +"""GARD:0022077""",atp13a2-related parkinsonism,[] +"""GARD:0022078""",inflammatory/autoimmune disorder involving the lacrimal system,[] +"""GARD:0022079""",rare disorder of the ocular adnexa,[] +"""GARD:0022080""",rare disorder with ectropion,[] +"""GARD:0022081""",rare disorder with entropion,[] +"""GARD:0022082""",structural developmental eye defect,[] +"""GARD:0022083""",syndromic lacrimal system disorder,[] +"""GARD:0022084""",anterior segment developmental abnormality with extraocular manifestations,[] +"""GARD:0022085""",infective keratitis,[] +"""GARD:0022086""",rare conjunctivitis,[] +"""GARD:0022087""",rare corneal disorder,[] +"""GARD:0022088""",rare disorder of the anterior segment of the eye,[] +"""GARD:0022089""",rare disorder of the pupil,[] +"""GARD:0022090""",rare disorder with corneal involvement as a major feature,[] +"""GARD:0022091""",rare inflammatory/autoimmune corneal disorder,[] +"""GARD:0022092""",syndromic ectopia lentis,[] +"""GARD:0022093""",syndromic microspherophakia,[] +"""GARD:0022094""",rare disorder with pigmented sclera,[] +"""GARD:0022095""",rare scleral disorder,[] +"""GARD:0022096""",isolated chorioretinal dystrophy,[] +"""GARD:0022097""",isolated macular dystrophy,[] +"""GARD:0022098""",isolated vitreoretinopathy,[] +"""GARD:0022099""",isolated progressive inherited retinal disorder,[] +"""GARD:0022100""",rare choroidal disorder,[] +"""GARD:0022101""",rare disorder of the posterior segment of the eye,[] +"""GARD:0022102""",rare macular disorder,[] +"""GARD:0022103""",rare retinal disorder,[] +"""GARD:0022104""",rare retinal vasculopathy,[] +"""GARD:0022105""",isolated stationary inherited retinal disorder,[] +"""GARD:0022106""",syndromic chorioretinal dystrophy,[] +"""GARD:0022107""",syndromic macular dystrophy,[] +"""GARD:0022108""",syndromic inherited retinal disorder,['syndromic retinal dystrophy'] +"""GARD:0022109""",syndromic vitreoretinopathy,[] +"""GARD:0022110""",rare disorder involving multiple structures of the eye,[] +"""GARD:0022111""",secondary early-onset glaucoma,[] +"""GARD:0022112""",congenital optic disc excavation,[] +"""GARD:0022113""",disorder with optic nerve compression,[] +"""GARD:0022114""",pseudopapilledema,[] +"""GARD:0022115""",rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature,[] +"""GARD:0022116""",rare ophthalmic disorder with cortical involvement,[] +"""GARD:0022117""",rare disorder with optic disc malformation,[] +"""GARD:0022118""",rare neuromuscular disorder with ocular motility/alignment anomaly,[] +"""GARD:0022119""",rare ophthalmic disorder with cranial nerve involvement,[] +"""GARD:0022120""",rare optic nerve disorder,[] +"""GARD:0022121""",rare trochlear nerve disorder,[] +"""GARD:0022122""",rare ocular motility/alignment disorder,[] +"""GARD:0022123""",isolated congenital entropion,[] +"""GARD:0022124""",isolated blepharochalasis,[] +"""GARD:0022125""",isolated iridoschisis,[] +"""GARD:0022126""",isolated microspherophakia,[] +"""GARD:0022127""",isolated foveal hypoplasia,[] +"""GARD:0022128""",peripapillary staphyloma,[] +"""GARD:0022129""",isolated megalopapilla,[] +"""GARD:0022130""",optic disc pit,[] +"""GARD:0022131""",thygeson superficial punctate keratitis,['thygeson superficial punctate keratopathy'] +"""GARD:0022132""",mooren ulcer,[] +"""GARD:0022133""",terrien marginal degeneration,[] +"""GARD:0022134""",fungal keratitis,"['keratomycosis', 'mycotic keratitis']" +"""GARD:0022135""",rare disorder of the visual organs,[] +"""GARD:0022136""",isolated inherited retinal disorder,[] +"""GARD:0022137""",radiation-induced plexopathy,[] +"""GARD:0022138""",osteoradionecrosis of the mandible,[] +"""GARD:0022139""",radiation-induced disorder,[] +"""GARD:0022140""",genetic primary orthostatic disorder,[] +"""GARD:0022141""",primary orthostatic disorder,[] +"""GARD:0022142""",frontonasal dysplasia-bifid nose-upper limb anomalies syndrome,[] +"""GARD:0022143""",autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect,['autosomal recessive axonal cmt due to copper metabolism defect'] +"""GARD:0022144""",congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,[] +"""GARD:0022145""",microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,[] +"""GARD:0022146""",lama5-related multisystemic syndrome,[] +"""GARD:0022147""",primary autoimmune enteropathy,[] +"""GARD:0022148""",syndromic autoimmune enteropathy,[] +"""GARD:0022149""",rare genetic disorder of the visual organs,[] +"""GARD:0022150""",rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature,[] +"""GARD:0022151""",rare genetic ophthalmic disorder with cortical involvement,[] +"""GARD:0022152""",rare genetic ophthalmic disorder with cranial nerve involvement,[] +"""GARD:0022153""",rare genetic optic nerve disorder,[] +"""GARD:0022154""",congenital optic disc excavation of genetic origin,[] +"""GARD:0022155""",rare genetic ocular motility/alignment disorder,[] +"""GARD:0022156""",rare genetic disorder with strabismus,[] +"""GARD:0022157""",syndromic genetic disorder with strabismus,[] +"""GARD:0022158""",rare genetic neuromuscular disorder with ocular motility/alignment anomaly,[] +"""GARD:0022159""",rare genetic disorder of the ocular adnexa,[] +"""GARD:0022160""",rare genetic palpebral disorder,[] +"""GARD:0022161""",rare genetic eyelid malposition disorder,[] +"""GARD:0022162""",rare genetic disorder with entropion,[] +"""GARD:0022163""",rare genetic disorder of the lacrimal apparatus,[] +"""GARD:0022164""",lacrimal drainage system anomaly of genetic origin,[] +"""GARD:0022165""",structural developmental eye defect of genetic origin,[] +"""GARD:0022166""",rare genetic disorder of the anterior segment of the eye,[] +"""GARD:0022167""",anterior segment developmental anomaly of genetic origin,[] +"""GARD:0022168""",rare genetic disorder with conjunctival involvement as a major feature,[] +"""GARD:0022169""",rare genetic disorder with lens opacification,[] +"""GARD:0022170""",syndromic genetic cataract,[] +"""GARD:0022171""",lens size anomaly of genetic origin,[] +"""GARD:0022172""",lens position anomaly of genetic origin,[] +"""GARD:0022173""",syndromic genetic ectopia lentis,[] +"""GARD:0022174""",rare genetic corneal disorder,[] +"""GARD:0022175""",rare genetic disorder with corneal involvement as a major feature,[] +"""GARD:0022176""",genetic corneal dystrophy,[] +"""GARD:0022177""",genetic superficial corneal dystrophy,[] +"""GARD:0022178""",syndromic genetic keratoconus,[] +"""GARD:0022179""",rare genetic inflammatory/autoimmune corneal disorder,[] +"""GARD:0022180""",rare genetic disorder of the pupil,[] +"""GARD:0022181""",rare genetic disorder of the posterior segment of the eye,[] +"""GARD:0022182""",rare genetic retinal disorder,[] +"""GARD:0022183""",rare genetic macular disorder,[] +"""GARD:0022184""",rare genetic retinal vasculopathy,[] +"""GARD:0022185""",rare genetic disorder involving multiple structures of the eye,[] +"""GARD:0022186""",secondary early-onset glaucoma of genetic origin,[] +"""GARD:0022187""",rare genetic choroidal disorder,[] +"""GARD:0022188""",pediatric-onset glaucoma,[] +"""GARD:0022189""",genetic congenital malformation of the eye with glaucoma as a major feature,[] +"""GARD:0022190""",pediatric-onset graves disease,['pediatric-onset basedow disease'] +"""GARD:0022191""",prepubertal anorexia nervosa,[] +"""GARD:0022192""",encephalopathy due to mitochondrial and peroxisomal fission defect,[] +"""GARD:0022193""",diaphragmatic hernia-short bowel-asplenia syndrome,[] +"""GARD:0022194""",hereditary angioedema with c1inh deficiency,"['hae with c1 inhibitor deficiency', 'hae with c1inh deficiency', 'hereditary angioneurotic edema with c1 inhibitor deficiency', 'hereditary angioneurotic edema with c1inh deficiency']" +"""GARD:0022195""",hereditary angioedema with normal c1inh,"['hae with normal c1 inhibitor', 'hae with normal c1inh', 'hereditary angioedema with normal c1 inhibitor', 'hereditary angioneurotic edema with normal c1 inhibitor', 'hereditary angioneurotic edema with normal c1inh']" +"""GARD:0022196""",acquired angioedema with c1inh deficiency,"['acquired angioneurotic edema with c1 inhibitor deficiency', 'acquired angioneurotic edema with c1inh deficiency']" +"""GARD:0022197""",acute bilirubin encephalopathy,"['abe', 'acute kernicterus']" +"""GARD:0022198""",chronic bilirubin encephalopathy,"['bind', 'bilirubin-induced neurological dysfunction', 'cbe', 'ksd', 'kernicterus spectrum disorder']" +"""GARD:0022199""",letrozole toxicity,[] +"""GARD:0022200""",combined hepatocellular carcinoma and cholangiocarcinoma,"['combined hcc-cc', 'combined hepatocellular-cholangiocarcinoma', 'hepatocholangiocarcinoma', 'chcc-cc']" +"""GARD:0022201""",secondary erythromelalgia,['secondary erythermalgia'] +"""GARD:0022202""",17q24.2 microdeletion syndrome,['del(17)(q24)'] +"""GARD:0022203""",immune dysregulation with inflammatory bowel disease,[] +"""GARD:0022204""",immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,[] +"""GARD:0022205""",inflammatory bowel disease-recurrent sinopulmonary infections syndrome,['nfat5 haploinsufficiency'] +"""GARD:0022206""",dermoid or epidermoid cyst of the central nervous system,['dermoid or epidermoid cyst of the cns'] +"""GARD:0022207""",progressive myoclonic epilepsy with neuroserpin inclusion bodies,['early onset familial encephalopathy with neuroserpin inclusion bodies'] +"""GARD:0022208""",progressive dementia with neuroserpin inclusion bodies,['late-onset familial encephalopathy with neuroserpin inclusion bodies'] +"""GARD:0022209""",pik3ca-related overgrowth syndrome,['pros'] +"""GARD:0022210""",rela fusion-positive ependymoma,['supratentorial c11orf95-rela fused ependymoma'] +"""GARD:0022211""",lamb-shaffer syndrome,['sox5 haploinsufficiency syndrome'] +"""GARD:0022212""",9q21.13 microdeletion syndrome,[] +"""GARD:0022213""",rasopathy,[] +"""GARD:0022214""",spondylodysplastic ehlers-danlos syndrome,"['spondylodysplastic eds', 'speds']" +"""GARD:0022215""",myopathic ehlers-danlos syndrome,"['eds/myopathy overlap syndrome', 'myopathic eds']" +"""GARD:0022216""",kyphoscoliotic ehlers-danlos syndrome due to lysyl hydroxylase 1 deficiency,"['cutis hyperelastica', 'eds via', 'ehlers-danlos syndrome type 6a', 'kyphoscoliotic eds due to lysyl hydroxylase 1 deficiency', 'lysyl hydroxylase-deficient eds', 'ocular-scoliotic eds', 'keds-plod1']" +"""GARD:0022217""",plg-related hereditary angioedema with normal c1inh,['plg-related hae with normal c1 inhibitor'] +"""GARD:0022218""",congenital axonal neuropathy with encephalopathy,[] +"""GARD:0022219""",neurological channelopathy of the central nervous system due to a genetic chloride channel defect,[] +"""GARD:0022220""",classic pyoderma gangrenosum,['ulcerative pyoderma gangrenosum'] +"""GARD:0022221""",pustular pyoderma gangrenosum,[] +"""GARD:0022222""",bullous pyoderma gangrenosum,['phemphigoid pyoderma gangrenosum'] +"""GARD:0022223""",vegetative pyoderma gangrenosum,['granulomatous pyoderma gangrenosum'] +"""GARD:0022224""",anomalous aortic origin of the left coronary artery,"['aolca', 'l-acaos', 'left coronary artery from right aortic sinus']" +"""GARD:0022225""",anomalous aortic origin of the right coronary artery,"['aorca', 'r-acaos', 'right coronary artery from left aortic sinus']" +"""GARD:0022226""",anomalous aortic origin of coronary artery,['aaoca'] +"""GARD:0022227""",anomalous origin of coronary artery from the pulmonary artery,['acapa'] +"""GARD:0022228""",car t cell therapy-associated cytokine release syndrome,"['car t cell therapy-associated crs', 'chimeric antigen receptor-t cell therapy-associated cytokine release syndrome']" +"""GARD:0022229""",quadricuspid aortic valve,[] +"""GARD:0022230""",anomaly of the coronary ostia,[] +"""GARD:0022231""",optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,[] +"""GARD:0022232""",syngap1-related developmental and epileptic encephalopathy,['syngap1-related dee'] +"""GARD:0022233""",hemolytic uremic syndrome,['hus'] +"""GARD:0022234""",infection-related hemolytic uremic syndrome,['infection-related hus'] +"""GARD:0022235""",streptococcus pneumoniae-associated hemolytic uremic syndrome,"['s. pneumoniae-associated hus', 'sp-hus']" +"""GARD:0022236""","congenital primary megaureter, refluxing and obstructed form",[] +"""GARD:0022237""",collagen-related glomerular basement membrane disease,[] +"""GARD:0022238""",atypical fanconi syndrome-neonatal hyperinsulinism syndrome,[] +"""GARD:0022239""",fibrohistiocytic inflammatory pseudotumor of the liver,[] +"""GARD:0022240""",lymphoplasmacytic inflammatory pseudotumor of the liver,['igg4-related inflammatory pseudotumor of the liver'] +"""GARD:0022241""",congenital tricuspid valve dysplasia,[] +"""GARD:0022242""",iga pemphigus,[] +"""GARD:0022243""",early-onset familial hypoaldosteronism,"['early-onset familial hyperreninemic hypoaldosteronism', 'severe aldosterone synthase deficiency']" +"""GARD:0022244""",late-onset familial hypoaldosteronism,"['late-onset familial hyperreninemic hypoaldosteronism', 'mild aldosterone synthase deficiency']" +"""GARD:0022245""",rare disorder due to poisoning,[] +"""GARD:0022246""",early-onset calcifying leukoencephalopathy-skeletal dysplasia,[] +"""GARD:0022247""",spastic ataxia-dysarthria due to glutaminase deficiency,[] +"""GARD:0022248""",rare disorder with hirschsprung disease as a major feature,[] +"""GARD:0022249""",idiopathic gastroparesis,[] +"""GARD:0022250""",primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,"['overlap syndromes of autoimmune liver diseases', 'pbc/psc and aih overlap syndrome']" +"""GARD:0022251""",autoimmune hepatitis type 1,['aih type 1'] +"""GARD:0022252""",autoimmune hepatitis type 2,['aih type 2'] +"""GARD:0022253""",seronegative autoimmune hepatitis,"['autoantibody-negative autoimmune hepatitis', 'seronegative aih']" +"""GARD:0022254""",isolated anencephaly,[] +"""GARD:0022255""",isolated exencephaly,[] +"""GARD:0022256""",serous cystadenoma of childhood,['serous cystadenoma of ovary in childhood'] +"""GARD:0022257""",mucinous cystadenoma of childhood,['mucinous cystadenoma of ovary in childhood'] +"""GARD:0022258""",seromucinous cystadenoma of childhood,['seromucinous cystadenoma of ovary in childhood'] +"""GARD:0022259""",furuncular myiasis due to dermatobia hominis,"['furunculoid myiasis due to dermatobia hominis', 'furunculous myiasis due to dermatobia hominis']" +"""GARD:0022260""",furuncular myiasis due to cordylobia anthropophaga,"['furunculoid myiasis due to cordylobia anthropophaga', 'furunculous myiasis due to cordylobia anthropophaga']" +"""GARD:0022261""",furuncular myiasis due to cordylobia rodhaini,"['furunculoid myiasis due to cordylobia rodhaini', 'furunculous myiasis due to cordylobia rodhaini']" +"""GARD:0022262""",syndromic congenital sodium diarrhea,['syndromic congenital tufting enteropathy'] +"""GARD:0022263""",isolated congenital aglossia,[] +"""GARD:0022264""",isolated congenital hypoglossia,[] +"""GARD:0022265""",genetic nephrotic syndrome,['hereditary nephrotic syndrome'] +"""GARD:0022266""",primary hypomagnesemia-refractory seizures-intellectual disability syndrome,[] +"""GARD:0022267""",triglyceride deposit cardiomyovasculopathy,"['neutral lipid storage disease with severe cardiovascular involvement', 'tgcv']" +"""GARD:0022268""",primary desmosis coli,['aplastic desmosis coli'] +"""GARD:0022269""",methotrexate toxicity,[] +"""GARD:0022270""",laminin subunit alpha 2-related limb-girdle muscular dystrophy r23,"['lgmd type r23', 'laminin subunit alpha 2-related lgmd r23', 'laminin subunit alpha 2-related late-onset muscular dystrophy']" +"""GARD:0022271""",pomgnt2-related limb-girdle muscular dystrophy r24,"['lgmd type r24', 'limb-girdle muscular dystrophy type r24', 'pomgnt2-related lgmd r24', 'pomgnt2-related muscular dystrophy']" +"""GARD:0022272""",calpain-3-related limb-girdle muscular dystrophy d4,"['lgmd type d4', 'lgmd1i', 'limb-girdle muscular dystrophy type d4']" +"""GARD:0022273""",cebpe-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,['cain'] +"""GARD:0022274""",congenital autosomal recessive small-platelet thrombocytopenia,['carst'] +"""GARD:0022275""",resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,"['rtha', 'resistance to thyroid hormone alpha', 'resistance to thyroid hormone due to a mutation in tra']" +"""GARD:0022276""",acute mast cell leukemia,['acute mcl'] +"""GARD:0022277""",chronic mast cell leukemia,['chronic mcl'] +"""GARD:0022278""",liver adenomatosis,['hepatic adenomatosis'] +"""GARD:0022279""",aprosencephaly/atelencephaly spectrum,['ap/at spectum'] +"""GARD:0022280""",atelencephaly,['atelencephalic microcephaly'] +"""GARD:0022281""",aprosencephaly,[] +"""GARD:0022282""",left sided atrial isomerism,"['isomerism of left atrial appendage', 'lai']" +"""GARD:0022283""",mueller-weiss syndrome,"['brailsford disease', 'mueller-weiss osteonecrosis of the tarsal bone']" +"""GARD:0022284""",b-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,"['bilu syndrome', 'hoffman syndrome']" +"""GARD:0022285""",idiopathic non-lupus full-house nephropathy,['idiopathic non-lupus fhn'] +"""GARD:0022286""",idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance,"['idiopathic ssns with secondary steroid resistance', 'secondary srns', 'secondary steroid-resistant nephrotic syndrome']" +"""GARD:0022287""",idiopathic multidrug-resistant nephrotic syndrome,[] +"""GARD:0022288""",idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy,['idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression'] +"""GARD:0022289""",systemic disease with glomerulopathy as a major feature,[] +"""GARD:0022290""",genetic systemic disease with glomerulopathy as a major feature,[] +"""GARD:0022291""",non-genetic systemic disease with glomerulopathy as a major feature,[] +"""GARD:0022292""",systemic vasculitis associated with glomerulopathy,[] +"""GARD:0022293""",disorder with multisystemic involvement and glomerulopathy,[] +"""GARD:0022294""",nephrotic syndrome without extrarenal manifestations,[] +"""GARD:0022295""",parenteral nutrition-associated cholestasis,['pnac'] +"""GARD:0022296""",primary lymphedema without systemic or visceral involvement,[] +"""GARD:0022297""",primary lymphedema with systemic or visceral involvement,[] +"""GARD:0022298""",disorder with multisystemic involvement and primary lymphedema,[] +"""GARD:0022299""",gjc2-related late-onset primary lymphedema,[] +"""GARD:0022300""",warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome,"['disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome', 'wild syndrome']" +"""GARD:0022301""",piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,"['generalized lymphatic dysplasia of fotiou', 'piezo1-related lrhf/gld', 'piezo1-related generalized lymphatic dysplasia with systemic involvement', 'piezo1-related lymphatic-related hydrops fetalis']" +"""GARD:0022302""",ephb4-related lymphatic-related hydrops fetalis,"['ephb4-related lrhf/gld', 'ephb4-related generalized lymphatic dysplasia with atrial septal defect', 'ephb4-related generalized lymphatic dysplasia with non-immune hydrops fetalis']" +"""GARD:0022303""",angiomatoid fibrous histiocytoma,['afh'] +"""GARD:0022304""",microcystic stromal tumor,['mcst'] +"""GARD:0022305""",multiple mitochondrial dysfunctions syndrome type 5,"['isca1 deficiency', 'mmds5']" +"""GARD:0022306""",celsr1-related late-onset primary lymphedema,[] +"""GARD:0022307""",congenital primary lymphedema of gordon,['vegfc-related congenital primary lymphedema'] +"""GARD:0022308""",bartter syndrome type 5,"['bartter syndrome type v', 'transient antenatal bartter syndrome']" +"""GARD:0022309""",idiopathic multicentric castleman disease,"['hhv-8-negative multicentric castleman disease', 'human herpesvirus-8-negative multicentric castleman disease']" +"""GARD:0022310""",hhv-8-associated multicentric castleman disease,['human herpesvirus-8-associated multicentric castleman disease'] +"""GARD:0022311""",ricin poisoning,[] +"""GARD:0022312""",blepharophimosis-ptosis-epicanthus inversus syndrome plus,"['3q23 microdeletion syndrome', 'bpes plus']" +"""GARD:0022313""",infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,"['oas1 deficiency', 'oas1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia']" +"""GARD:0022314""",donson-related microcephaly-short stature-limb abnormalities spectrum,[] +"""GARD:0022315""",pheochromocytoma-paraganglioma,[] +"""GARD:0022316""",split cord malformation type ii,"['scm type 2', 'scm type ii', 'split cord malformation type 2']" +"""GARD:0022317""",split cord malformation,['scm'] +"""GARD:0022318""",predisposition to severe viral infection due to irf7 deficiency,[] +"""GARD:0022319""",autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency,['autosomal recessive msmd due to partial jak1 deficiency'] +"""GARD:0022320""",cathepsin a-related arteriopathy-strokes-leukoencephalopathy,['carasal'] +"""GARD:0022321""",middle east respiratory syndrome,['mers'] +"""GARD:0022322""",complete atrioventricular septal defect without ventricular hypoplasia,"['balanced complete atrioventricular canal', 'cavc without ventricular hypoplasia', 'complete avsd without ventricular hypoplasia', 'complete atrioventricular canal defect without ventricular hypoplasia', 'complete atrioventricular septal defect with balanced ventricles']" +"""GARD:0022323""",partial atrioventricular septal defect with ventricular hypoplasia,"['pavc with ventricular hypoplasia', 'partial avsd with ventricular hypoplasia', 'partial atrioventricular canal defect with ventricular hypoplasia', 'partial atrioventricular septal defect with ventricular imbalance', 'unbalanced partial atrioventricular canal']" +"""GARD:0022324""",partial atrioventricular septal defect without ventricular hypoplasia,"['balanced partial atrioventricular canal', 'pavc without ventricular hypoplasia', 'partial avsd without ventricular hypoplasia', 'partial atrioventricular canal defect without ventricular hypoplasia', 'partial atrioventricular septal defect with balanced ventricles']" +"""GARD:0022325""",intermediate atrioventricular septal defect,"['intermediate avsd', 'intermediate atrioventricular canal defect', 'transitional atrioventricular canal defect']" +"""GARD:0022326""",satb2-associated syndrome,['sas'] +"""GARD:0022327""",sporadic human prion disease,['idiopathic human prion disease'] +"""GARD:0022328""",acquired human prion disease,['infectious human prion disease'] +"""GARD:0022329""",iatrogenic creutzfeldt-jakob disease,"['iatrogenic mcj', 'icjd']" +"""GARD:0022330""",genetic hemolytic uremic syndrome,['genetic hus'] +"""GARD:0022331""",intraductal tubulopapillary neoplasm of pancreas,['itpn'] +"""GARD:0022332""",lethal brain and heart developmental defects,[] +"""GARD:0022333""",congenital infiltrating lipomatosis of the face,"['cil-f', 'facial infused lipomatosis', 'fibroadipose infiltrating lipomatosis']" +"""GARD:0022334""","serine biosynthesis pathway deficiency, infantile/juvenile form",[] +"""GARD:0022335""",neu-laxova syndrome due to phosphoserine aminotransferase deficiency,['phosphoserine aminotransferase deficiency; prenatal form'] +"""GARD:0022336""",neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency,['3-phosphoglycerate dehydrogenase deficiency; prenatal form'] +"""GARD:0022337""",neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency,['3-phosphoserine phosphatase deficiency; prenatal form'] +"""GARD:0022338""",isolated splenic vein thrombosis,[] +"""GARD:0022339""",isolated mesenteric vein thrombosis,[] +"""GARD:0022340""",acute myeloid leukemia with t(9;22)(q34.1;q11.2),"['aml with bcr-abl1', 'aml with t(9;22)(q34.1;q11.2)']" +"""GARD:0022341""",b-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,[] +"""GARD:0022342""",b-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),"['b-all with t(9;22)(q34.1;q11.2)', 'bcr-abl1-like b-all', 'philadelphia chromosome-like b-all']" +"""GARD:0022343""",b-lymphoblastic leukemia/lymphoma with t(v;11q23.3),"['b lymphoblastic leukemia/lymphoma with t(v;11q23.3); kmt2a rearranged', 'b lymphoblastic leukemia lymphoma with t(v;11q23); mll rearranged']" +"""GARD:0022344""",b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),"['b lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); tel-aml1', 'b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); etv6-runx1']" +"""GARD:0022345""",b-lymphoblastic leukemia/lymphoma with hyperdiploidy,[] +"""GARD:0022346""",b-lymphoblastic leukemia/lymphoma with hypodiploidy,['hypodiploid all'] +"""GARD:0022347""",b-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3),['b lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); il3-igh'] +"""GARD:0022348""",b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),['b lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); tcf3-pbx1'] +"""GARD:0022349""",sporadic fatal insomnia,[] +"""GARD:0022350""",short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome,['liberfarb syndrome'] +"""GARD:0022351""",pum1-associated developmental disability-ataxia-seizure syndrome,"['paddas syndrome', 'sca47']" +"""GARD:0022352""",spinocerebellar ataxia type 46,['sca46'] +"""GARD:0022353""",spinocerebellar ataxia type 45,['sca45'] +"""GARD:0022354""",mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),['mpal with t(9;22)(q34.1;q11.2); bcr-abl1'] +"""GARD:0022355""",myeloid/lymphoid neoplasm associated with jak2 rearrangement,['myeloid/lymphoid neoplasms with pcm1-jak2'] +"""GARD:0022356""","grin2b-related developmental delay, intellectual disability and autism spectrum disorder",[] +"""GARD:0022357""",mixed phenotype acute leukemia with t(v;11q23.3),"['mpal with t(v;11q23.3); kmt2a rearranged', 'mpal with t(v;11q23.3); mll rearranged']" +"""GARD:0022358""","linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",['rhoa-related mosaic ectodermal dysplasia'] +"""GARD:0022359""",dystonia 28,"['dyt28', 'kmt2b-related dystonia']" +"""GARD:0022360""",inherited gynecological cancer-predisposing syndrome,[] +"""GARD:0022361""",congenital-onset steinert myotonic dystrophy,"['congenital-onset steinert disease', 'congenital-onset myotonic dystrophy type 1']" +"""GARD:0022362""",childhood-onset steinert myotonic dystrophy,"['childhood-onset steinert disease', 'childhood-onset myotonic dystrophy type 1']" +"""GARD:0022363""",juvenile-onset steinert myotonic dystrophy,"['juvenile-onset steinert disease', 'juvenile-onset myotonic dystrophy type 1']" +"""GARD:0022364""",adult-onset steinert myotonic dystrophy,"['adult-onset steinert disease', 'adult-onset myotonic dystrophy type 1']" +"""GARD:0022365""",late-onset steinert myotonic dystrophy,"['late-onset steinert disease', 'late-onset myotonic dystrophy type 1']" +"""GARD:0022366""",choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,['kmt2d-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome'] +"""GARD:0022367""",phip-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,['chung-jansen syndrome'] +"""GARD:0022368""",isolated melanotic schwannoma,['isolated melanocytic schwannoma'] +"""GARD:0022369""",gnao1-related developmental delay-seizures-movement disorder spectrum,['gnao1-related spectrum'] +"""GARD:0022370""",traf7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,[] +"""GARD:0022371""",menke-hennekam syndrome,[] +"""GARD:0022372""",neuromyelitis optica spectrum disorder with anti-aqp4 antibodies,"['nmosd with anti-aqp4 antibodies', 'neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies']" +"""GARD:0022373""",neuromyelitis optica spectrum disorder with anti-mog antibodies,"['nmosd with anti-mog antibodies', 'neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies']" +"""GARD:0022374""",neuromyelitis optica spectrum disorder without anti-mog and without anti-aqp4 antibodies,"['nmosd without anti-mog antibodies and without anti-aqp4 antibodies', 'neuromyelitis optica spectrum disorder without anti-myelin oligodendrocyte glycoprotein and without anti-aquaporin-4 antibodies']" +"""GARD:0022375""",acute transverse myelitis with anti-mog antibodies,['acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies'] +"""GARD:0022376""",isolated optic neuritis without anti-mog antibodies,['isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies'] +"""GARD:0022377""",isolated optic neuritis with anti-mog antibodies,['isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies'] +"""GARD:0022378""",acute disseminated encephalomyelitis with anti-mog antibodies,"['adem with anti-mog antibodies', 'acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies']" +"""GARD:0022379""",acute disseminated encephalomyelitis without anti-mog antibodies,['acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies'] +"""GARD:0022380""",timothy syndrome type 1,"['lqt8 type 1', 'ts1']" +"""GARD:0022381""",timothy syndrome type 2,"['lqt8 type 2', 'ts2']" +"""GARD:0022382""",atypical timothy syndrome,"['ats', 'atypical lqt8']" +"""GARD:0022383""",perivascular epithelioid cell neoplasm,"['pecoma', 'perivascular epithelioid tumour']" +"""GARD:0022384""",fibrous dysplasia/mccune-albright syndrome,"['fd/mas spectrum', 'fd/mas syndrome', 'fibrous dysplasia/mccune-albright spectrum']" +"""GARD:0022385""",adrenal hypoplasia congenita,"['ahc', 'congenital adrenal hypoplasia', 'primary adrenal hypoplasia']" +"""GARD:0022386""",epidermolysis bullosa simplex without extracutaneous involvement,['ebs without extracutaneous involvement'] +"""GARD:0022387""",epidermolysis bullosa simplex with extracutaneous involvement,['ebs with extracutaneous involvement'] +"""GARD:0022388""",localized dystrophic epidermolysis bullosa,['localized deb'] +"""GARD:0022389""",antley-bixler syndrome without genital anomaly or disorder of steroidogenesis,[] +"""GARD:0022390""",syndrome of reduced sensitivity to thyroid hormone,[] +"""GARD:0022391""",igg4-related systemic disease,['igg4-rd'] +"""GARD:0022392""",combined immunodeficiency due to rela haploinsufficiency,['cid due to rela haploinsufficiency'] +"""GARD:0022393""",portosinusoidal vascular disease,['psvd'] +"""GARD:0022394""",incomplete septal cirrhosis,['incomplete septal fibrosis'] +"""GARD:0022395""",trim22-related inflammatory bowel disease,['trim22-related ibd'] +"""GARD:0022396""",irf2bpl-related regressive neurodevelopmental disorder-dystonia-seizures syndrome,[] +"""GARD:0022397""",setd2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome,[] +"""GARD:0022398""",blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome,[] +"""GARD:0022399""",kat6b-related multiple congenital anomalies syndrome,['kat6b-related disorder'] +"""GARD:0022400""",alpi-related inflammatory bowel disease,[] +"""GARD:0022401""",euthyroid dysprealbuminemic hyperthyroxinemia,['euthyroid dystransthyretinemic hyperthyroxinemia'] +"""GARD:0022402""",foxg1 syndrome due to intragenic alteration,[] +"""GARD:0022403""",multisystem inflammatory syndrome in children and adults,['mis-c/a'] +"""GARD:0022404""",stxbp1-related encephalopathy,[] +"""GARD:0022405""",hypomyelination of early myelinating structures,['hems'] +"""GARD:0022406""",hereditary angioedema with normal c1inh not related to f12 or plg variant,[] +"""GARD:0022407""",acquired hemophilia b,"['ahb', 'acquired f9 deficiency', 'acquired factor ix deficiency']" +"""GARD:0022408""",acquired factor v deficiency,[] +"""GARD:0022409""",acquired factor vii deficiency,[] +"""GARD:0022410""",acquired factor x deficiency,['afx'] +"""GARD:0022411""",acquired factor xi deficiency,['afxi'] +"""GARD:0022412""",acquired factor xiii deficiency,['afxiii'] +"""GARD:0022413""",factor v short isoforms-related bleeding disorder,['fv short isoforms-related bleeding disorder'] +"""GARD:0022414""",factor v amsterdam bleeding disorder,[] +"""GARD:0022415""",factor v atlanta bleeding disorder,[] +"""GARD:0022416""",nrxn1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,[] +"""GARD:0022417""",ccnk-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome,[] +"""GARD:0022418""",combined deficiency of factor vii and factor x,[] +"""GARD:0022419""",legionellosis,['legionella infection'] +"""GARD:0022420""",non-syndromic anorectal malformation with perineal fistula,"['non-syndromic arm with cutaneous fistula', 'non-syndromic arm with perineal fistula', 'non-syndromic anorectal malformation with cutaneous fistula']" +"""GARD:0022421""",non-syndromic anorectal malformation with rectourethral fistula,['non-syndromic arm with rectourethral fistula'] +"""GARD:0022422""","non-syndromic anorectal malformation with rectourethral fistula, bulbar type","['non-syndromic arm with rectobulbar fistula', 'non-syndromic arm with rectourethral fistula; bulbar type', 'non-syndromic anorectal malformation with rectobulbar fistula']" +"""GARD:0022423""","non-syndromic anorectal malformation with rectourethral fistula, prostatic type","['non-syndromic arm with rectoprostatic fistula', 'non-syndromic arm with rectourethral fistula; prostatic type', 'non-syndromic anorectal malformation with rectoprostatic fistula']" +"""GARD:0022424""",non-syndromic anorectal malformation with rectovesical fistula,"['non-syndromic arm with bladder neck fistula', 'non-syndromic arm with rectovesical fistula', 'non-syndromic anorectal malformation with bladder neck fistula']" +"""GARD:0022425""",non-syndromic anorectal malformation with vestibular fistula,['non-syndromic arm with vestibular fistula'] +"""GARD:0022426""",non-syndromic cloacal malformation,[] +"""GARD:0022427""",non-syndromic anorectal malformation without fistula,"['non-syndromic arm without fistula', 'non-syndromic anorectal malformation with no fistula']" +"""GARD:0022428""",non-syndromic anorectal malformation with anal stenosis,['non-syndromic arm with anal stenosis'] +"""GARD:0022429""",non-syndromic anorectal malformation with pouch colon,['non-syndromic arm with pouch colon'] +"""GARD:0022430""",non-syndromic anorectal malformation with rectal atresia,['non-syndromic arm with rectal atresia'] +"""GARD:0022431""",non-syndromic anorectal malformation with rectal stenosis,['non-syndromic arm with rectal stenosis'] +"""GARD:0022432""",non-syndromic anorectal malformation with rectovaginal fistula,['non-syndromic arm with rectovaginal fistula'] +"""GARD:0022433""",non-syndromic anorectal malformation with h-type fistula,['non-syndromic arm with h-type fistula'] +"""GARD:0022434""",isolated female hypospadias,[] +"""GARD:0022435""",klhl7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome,[] +"""GARD:0022436""",klhl7-related bohring-opitz-like syndrome,['klhl7-related bos-like syndrome'] +"""GARD:0022437""",klhl7-related cold-induced sweating-like syndrome,['klhl7-related crisponi-like syndrome'] +"""GARD:0022438""",klhl7-related disorder,[] +"""GARD:0022439""",symptomatic form of x-linked centronuclear myopathy in female carriers,"['symptomatic form of x-linked myotubular myopathy in female carriers', 'symptomatic form of xlcnm in female carriers', 'symptomatic form of xlmtm in female carriers']" +"""GARD:0022440""",rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome,[] +"""GARD:0022441""",genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability,['genetic multiple congenital anomalies-intellectual disability with or without dysmorphism'] +"""GARD:0022442""",granuloma faciale,"['facial granuloma of lever', 'granuloma of lever']" +"""GARD:0022443""",chronic intervillositis of unknown etiology,['ciue'] +"""GARD:0022444""",rare disorder without a determined diagnosis after full investigation,['fully investigated rare disorder without a determined diagnosis'] +"""GARD:0022445""",twin anemia-polycythemia sequence,['taps'] +"""GARD:0022446""",twin-reversed arterial perfusion sequence,['trap'] +"""GARD:0022447""",selective intrauterine growth restriction,[] +"""GARD:0022448""",amniotic fluid embolism,[] +"""GARD:0022449""",rare disorder related to monochorionic twin pregnancy,[] +"""GARD:0022450""",rare disorder due to unbalanced inter-twin blood transfusion,[] +"""GARD:0022451""",rare disorder due to inadequate sharing of the placenta,[] +"""GARD:0022452""",classic eosinophilic pustular folliculitis,"['classic epf', 'ofuji disease']" +"""GARD:0022453""",congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome,[] +"""GARD:0022454""",f12-associated cold autoinflammatory syndrome,[] +"""GARD:0022455""",hemophilia b leyden,"['f9 deficiency; leyden type', 'factor ix deficiency; leyden type']" +"""GARD:0022456""",chronic neurovisceral acid sphingomyelinase deficiency,"['chronic neurovisceral asmd', 'npd-a/b', 'niemann-pick disease type a/b']" +"""GARD:0022457""",acid sphingomyelinase deficiency,['asmd'] +"""GARD:0022458""",hereditary persistence of fetal hemoglobin-intellectual disability syndrome,['dias-logan syndrome'] +"""GARD:0022459""",rare hereditary connective tissue disease,[] +"""GARD:0022460""",narcolepsy,['narcolepsy with or without cataplexy'] +"""GARD:0022461""",inherited hematologic cancer-predisposing syndrome,[] +"""GARD:0022462""",neonatal-onset severe multisystemic autoinflammatory disease with increased il18,"['neonatal-onset autoinflammation-cytopenia-facial dysmorphism syndrome', 'neonatal-onset severe multisystemic autoinflammatory disease with increased interleukin 18']" +"""GARD:0022463""",samd9l-associated autoinflammatory syndrome,['samd9l-saad'] +"""GARD:0022464""",immune deficiency due to impaired neutrophil phagocytosis and migration,"['immunodeficiency due to impaired neutrophil phagocytosis and migration', 'mkl1-related neutrophil motility defect']" +"""GARD:0022465""",early-onset autoimmunity-autoinflammation-immunodeficiency syndrome,['socs1-related autoinflammatory syndrome'] +"""GARD:0022466""",familial hyperinflammatory lymphoproliferative immunodeficiency,"['hem1 deficiency syndrome', 'nckap1l-associated hyperinflammatory disorder']" +"""GARD:0022467""",cadins disease,['card11-associated atopy with dominant interference of nf-kb signaling syndrome'] +"""GARD:0022468""",developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,[] +"""GARD:0022469""",non-syndromic unisutural craniosynostosis,"['isolated unisutural craniosynostosis', 'non-syndromic single suture synostosis']" +"""GARD:0022470""",non-syndromic unicoronal craniosynostosis,"['isolated frontal plagiocephaly', 'isolated unicoronal craniosynostosis', 'non-syndromic anterior synostotic plagiocephaly', 'non-syndromic frontoparietal craniosynostosis', 'non-syndromic hemicoronal craniosynostosis', 'non-syndromic unilateral coronal synostosis']" +"""GARD:0022471""",non-syndromic unilambdoid craniosynostosis,"['isolated occipital plagiocephaly', 'isolated unilamboid craniosynostosis', 'non-syndromic posterior synostotic plagiocephaly', 'non-syndromic unilateral lambdoid synostosis']" +"""GARD:0022472""",non-syndromic unifrontosphenoidal craniosynostosis,"['isolated unifrontosphenoidal craniosynostosis', 'isolated unilateral sphenofrontal suture synostosis', 'non-syndromic unilateral frontosphenoidal suture synostosis']" +"""GARD:0022473""",non-syndromic unisquamosal craniosynostosis,"['isolated unisquamosal craniosynostosis', 'non-syndromic unilateral squamosal suture synostosis']" +"""GARD:0022474""",non-syndromic multisutural craniosynostosis,"['isolated multisutural craniosynostosis', 'non-syndromic multiple suture synostosis']" +"""GARD:0022475""",non-syndromic non-specific multisutural craniosynostosis,"['isolated non-specific multisutural craniosynostosis', 'non-syndromic non-specific multiple suture synostosis']" +"""GARD:0022476""",non-syndromic bilambdoid craniosynostosis,"['isolated bilambdoid craniosynostosis', 'isolated pachycephaly', 'non-syndromic bilateral lambdoid synostosis']" +"""GARD:0022477""",non-syndromic unicoronal and sagittal craniosynostosis,"['isolated unicoronal and sagittal craniosynostosis', 'non-syndromic unilateral coronal and sagittal suture synostosis']" +"""GARD:0022478""",non-syndromic metopic and sagittal craniosynostosis,"['isolated metopic and sagittal craniosynostosis', 'non-syndromic metopic and sagittal suture synostosis']" +"""GARD:0022479""",non-syndromic bicoronal and metopic craniosynostosis,"['isolated bicoronal and metopic craniosynostosis', 'non-syndromic bilateral coronal and metopic suture synostosis']" +"""GARD:0022480""",non-syndromic bicoronal and sagittal craniosynostosis,"['isolated bicoronal and sagittal craniosynostosis', 'non-syndromic sagittal and bilateral coronal synostosis']" +"""GARD:0022481""",non-syndromic pansynostosis,"['isolated pansynostosis', 'non-syndromic synostosis of all cranial vault sutures']" +"""GARD:0022482""",bartter syndrome type 1,['bartter syndrome type i'] +"""GARD:0022483""",bartter syndrome type 2,['bartter syndrome type ii'] +"""GARD:0022484""",primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,[] +"""GARD:0022485""",egf-related primary hypomagnesemia with intellectual disability,[] +"""GARD:0022486""",gitelman-like kidney tubulopathy due to mitochondrial dna mutation,['gitelman-like kidney tubulopathy due to mtdna mutation'] +"""GARD:0022487""",fibrosis-neurodegeneration-cerebral angiomatosis syndrome,"['finca', 'interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome']" +"""GARD:0022488""",genetic autoinflammatory syndrome with skin involvement,[] +"""GARD:0022489""",rare genetic nevus,[] +"""GARD:0022490""",x-linked severe syndromic thoracic aortic aneurysm and dissection,"['meester-loeys syndrome', 'x-linked severe syndromic taad']" +"""GARD:0022491""",sbds-related severe neonatal spondylometaphyseal dysplasia,"['sbds-related severe neonatal smd', 'spondylometaphyseal dysplasia; sedaghatian-like type']" +"""GARD:0022492""",autoimmune limbic encephalitis,['ale'] +"""GARD:0022493""",paraneoplastic cerebellar degeneration,"['pcd', 'paraneoplastic cerebellar ataxia', 'rapidely progressive cerebellar syndrome', 'subacute cerebellar degeneration']" +"""GARD:0022494""",immune-mediated cerebellar ataxia,"['autoimmune cerebellitis', 'imca']" +"""GARD:0022495""",mir140-related spondyloepiphyseal dysplasia,"['mir140-related sed', 'spondyloepiphyseal dysplasia with severe brachydactyly and cone-shaped epiphyses']" +"""GARD:0022496""",body integrity dysphoria,"['bid', 'biid', 'body integrity identity disorder']" +"""GARD:0022497""",non-specific autoimmune supratentorial encephalitis with characteristic antibodies,['non-specific supratentorial ae with characteristic antibodies'] +"""GARD:0022498""",non-specific autoimmune supratentorial encephalitis without characteristic antibodies,['non-specific supratentorial ae without characteristic antibodies'] +"""GARD:0022499""",paraneoplastic isolated brainstem encephalitis,"['paraneoplastic isolated rhombencephalitis', 'paraneoplastic isolated rhomboencephalitis']" +"""GARD:0022500""",non-specific autoimmune brainstem encephalitis with characteristic antibodies,"['non-specific autoimmune rhombencephalitis with characteristic antibodies', 'non-specific autoimmune rhomboencephalitis with characteristic antibodies']" +"""GARD:0022501""",non-specific autoimmune brainstem encephalitis without characteristic antibodies,"['non-specific autoimmune rhombencephalitis without characteristic antibodies', 'non-specific autoimmune rhomboencephalitis without characteristic antibodies']" +"""GARD:0022502""",postinfectious cerebellitis,"['aca', 'apca', 'acute cerebellar ataxia', 'acute postinfectious cerebellar ataxia', 'pic', 'para-infectious cerebellitis']" +"""GARD:0022503""",non-specific autoimmune cerebellar ataxia with characteristic antibodies,['non-specific autoimmune ca with characteristic antibodies'] +"""GARD:0022504""",non-specific autoimmune cerebellar ataxia without characteristic antibodies,"['non-specific autoimmune ca without characteristic antibodies', 'paca', 'primary autoimmune cerebellar ataxia']" +"""GARD:0022505""",rare teratologic disease,['acquired embryofetopathy'] +"""GARD:0022506""",rare hepatic disease,[] +"""GARD:0022507""",rare maxillo-facial surgical disease,['rare maxillofacial anomaly'] +"""GARD:0022508""",rare inborn errors of metabolism,['rare metabolic disease'] +"""GARD:0022509""",rare infectious disease,[] +"""GARD:0022510""",rare skin disease,[] +"""GARD:0022511""",rare bone disease,[] +"""GARD:0022512""",rare renal disease,[] +"""GARD:0022513""",rare developmental defect during embryogenesis,['malformation syndrome'] +"""GARD:0022514""",rare gynecologic or obstetric disease,[] +"""GARD:0022515""",rare cardiac disease,[] +"""GARD:0022516""",rare gastroenterologic disease,[] +"""GARD:0022517""",rare respiratory disease,[] +"""GARD:0022518""",rare surgical thoracic disease,[] +"""GARD:0022519""",rare surgical cardiac disease,[] +"""GARD:0022520""",rare ophthalmic disorder,[] +"""GARD:0022521""",rare endocrine disease,[] +"""GARD:0022522""",rare hematologic disease,[] +"""GARD:0022523""",rare immune disease,[] +"""GARD:0022524""",rare neurologic disease,['rare nervous system disease'] +"""GARD:0022525""",rare systemic or rheumatologic disease,[] +"""GARD:0022526""",rare odontologic disease,[] +"""GARD:0022527""",rare circulatory system disease,[] +"""GARD:0022528""",rare otorhinolaryngologic disease,[] +"""GARD:0022529""",rare infertility,[] +"""GARD:0022530""",rare allergic disease,['rare allergy'] +"""GARD:0022531""",rare genetic disease,[] +"""GARD:0022532""",rare urogenital disease,[] +"""GARD:0022533""",rare disorder due to toxic effects,[] +"""GARD:0022534""",rare abdominal surgical disease,[] +"""GARD:0022535""",rare neoplastic disease,['rare tumoral disease'] +"""GARD:0022536""",rare disorder potentially indicated for transplant or complication after transplantation,[] +"""GARD:0022537""","intellectual developmental disorder, autosomal recessive 1",['mental retardation; autosomal recessive 1'] +"""GARD:0022538""","intellectual developmental disorder, autosomal recessive 2","['mental retardation; autosomal recessive 2a', 'mental retardation; autosomal recessive 2']" +"""GARD:0022539""","intellectual developmental disorder, autosomal recessive 3",['mental retardation; autosomal recessive 3'] +"""GARD:0022540""","intellectual developmental disorder, autosomal recessive 12",[] +"""GARD:0022541""","intellectual developmental disorder, autosomal recessive 5",['mental retardation; autosomal recessive 5'] +"""GARD:0022542""","intellectual developmental disorder, autosomal recessive 6",['mental retardation; autosomal recessive 6'] +"""GARD:0022543""","intellectual developmental disorder, autosomal recessive 7","['mental retardation; autosomal recessive 22', 'intellectual developmental disorder 22', 'mental retardation; autosomal recessive 7']" +"""GARD:0022544""","intellectual developmental disorder, autosomal recessive 9",[] +"""GARD:0022545""","intellectual developmental disorder, autosomal recessive 10",[] +"""GARD:0022546""","intellectual developmental disorder, autosomal recessive 11",[] +"""GARD:0022547""","intellectual developmental disorder, autosomal recessive 4",[] +"""GARD:0022548""","intellectual developmental disorder, autosomal recessive 13",['mental retardation; autosomal recessive 13'] +"""GARD:0022549""","intellectual developmental disorder, autosomal recessive 14",['mental retardation; autosomal recessive 14'] +"""GARD:0022550""",rafiq syndrome,"['cdg2u', 'mental retardation; autosomal recessive 15; formerly']" +"""GARD:0022551""","intellectual developmental disorder, autosomal recessive 16",[] +"""GARD:0022552""","intellectual developmental disorder, autosomal recessive 18, with or without epilepsy","['intellectual developmental disorder; autosomal recessive 18', 'mental retardation; autosomal recessive 18']" +"""GARD:0022553""","intellectual developmental disorder, autosomal recessive 31",[] +"""GARD:0022554""","intellectual developmental disorder, autosomal recessive 29",[] +"""GARD:0022555""","intellectual developmental disorder, autosomal recessive 27",['mental retardation; autosomal recessive 27'] +"""GARD:0022556""","intellectual developmental disorder, autosomal recessive 33",[] +"""GARD:0022557""","intellectual developmental disorder, autosomal recessive 30",[] +"""GARD:0022558""","intellectual developmental disorder, autosomal recessive 19",[] +"""GARD:0022559""","intellectual developmental disorder, autosomal recessive 23",[] +"""GARD:0022560""","intellectual developmental disorder, autosomal recessive 24",[] +"""GARD:0022561""","intellectual developmental disorder, autosomal recessive 25",[] +"""GARD:0022562""","intellectual developmental disorder, autosomal recessive 28",[] +"""GARD:0022563""","intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly",['mental retardation; autosomal recessive 34; with variant lissencephaly'] +"""GARD:0022564""","neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities","['mental retardation; autosomal recessive 42', 'glycosylphosphatidylinositol biosynthesis defect 9']" +"""GARD:0022565""","intellectual developmental disorder, autosomal recessive 43",['mental retardation; autosomal recessive 43'] +"""GARD:0022566""","intellectual developmental disorder, autosomal recessive 44",['mental retardation; autosomal recessive 44'] +"""GARD:0022567""","intellectual developmental disorder, autosomal recessive 45",[] +"""GARD:0022568""","intellectual developmental disorder, autosomal recessive 46",['mental retardation; autosomal recessive 46'] +"""GARD:0022569""","intellectual developmental disorder, autosomal recessive 47",['mental retardation; autosomal recessive 47'] +"""GARD:0022570""","intellectual developmental disorder, autosomal recessive 50",['mental retardation; autosomal recessive 50'] +"""GARD:0022571""","intellectual developmental disorder, autosomal recessive 51",['mental retardation; autosomal recessive 51'] +"""GARD:0022572""","intellectual developmental disorder, autosomal recessive 52",['mental retardation; autosomal recessive 52'] +"""GARD:0022573""","intellectual developmental disorder, autosomal recessive 54",['mental retardation; autosomal recessive 54'] +"""GARD:0022574""","intellectual developmental disorder, autosomal recessive 56",['mental retardation; autosomal recessive 56'] +"""GARD:0022575""","intellectual developmental disorder, autosomal recessive 57",[] +"""GARD:0022576""","neurodevelopmental disorder with microcephaly, ataxia, and seizures",[] +"""GARD:0022577""",glycosylphosphatidylinositol biosynthesis defect 16,['mental retardation; autosomal recessive 62'] +"""GARD:0022578""","intellectual developmental disorder, autosomal recessive 65",['mental retardation; autosomal recessive 65'] +"""GARD:0022579""","intellectual developmental disorder, autosomal recessive 66",['mental retardation; autosomal recessive 66'] +"""GARD:0022580""","intellectual developmental disorder, autosomal recessive 70",['mental retardation; autosomal recessive 70'] +"""GARD:0022581""",intellectual developmental disorder with short stature and behavioral abnormalities,[] +"""GARD:0022582""","deafness, autosomal recessive 2",['neurosensory nonsyndromic recessive deafness 2'] +"""GARD:0022583""","deafness, autosomal recessive 3",['neurosensory nonsyndromic recessive deafness 3'] +"""GARD:0022584""","deafness, autosomal recessive 4, with enlarged vestibular aqueduct","['neurosensory nonsyndromic recessive deafness 4', 'dilated vestibular aqueduct']" +"""GARD:0022585""","deafness, autosomal recessive 5",[] +"""GARD:0022586""","deafness, autosomal recessive 6",['neurosensory nonsyndromic recessive deafness 6'] +"""GARD:0022587""","deafness, autosomal recessive 7",['deafness; autosomal recessive 11'] +"""GARD:0022588""","deafness, autosomal recessive 9",['neurosensory nonsyndromic recessive deafness 9'] +"""GARD:0022589""","deafness, autosomal recessive 8","['deafness; childhood-onset neurosensory; autosomal recessive 8', 'deafness; autosomal recessive 10', 'neurosensory nonsyndromic recessive deafness 8']" +"""GARD:0022590""","deafness, autosomal recessive 12",[] +"""GARD:0022591""","deafness, autosomal recessive 15","['deafness; autosomal recessive 72', 'deafness; autosomal recessive 95']" +"""GARD:0022592""","deafness, autosomal recessive 18a",['deafness; autosomal recessive 18'] +"""GARD:0022593""","deafness, autosomal recessive 17",[] +"""GARD:0022594""","deafness, autosomal recessive 13",[] +"""GARD:0022595""","deafness, autosomal recessive 21",[] +"""GARD:0022596""","deafness, autosomal recessive 14",[] +"""GARD:0022597""","deafness, autosomal recessive 16",[] +"""GARD:0022598""","deafness, autosomal recessive 20",[] +"""GARD:0022599""","deafness, autosomal recessive 26",[] +"""GARD:0022600""","deafness, autosomal recessive 27",[] +"""GARD:0022601""","deafness, autosomal recessive 22",[] +"""GARD:0022602""","deafness, autosomal recessive 31",['whirler; mouse; homolog of'] +"""GARD:0022603""","deafness, autosomal recessive 30",[] +"""GARD:0022604""","deafness, autosomal recessive 33",[] +"""GARD:0022605""","deafness, autosomal recessive 37",[] +"""GARD:0022606""","deafness, autosomal recessive 38",[] +"""GARD:0022607""","deafness, autosomal recessive 40",[] +"""GARD:0022608""","deafness, autosomal recessive 39",[] +"""GARD:0022609""","deafness, autosomal recessive 35",[] +"""GARD:0022610""","deafness, autosomal recessive 32, with or without immotile sperm","['deafness; autosomal recessive 105; formerly', 'hearing impairment infertile male syndrome']" +"""GARD:0022611""","deafness, autosomal recessive 36, with or without vestibular involvement",[] +"""GARD:0022612""","deafness, autosomal recessive 48",[] +"""GARD:0022613""","deafness, autosomal recessive 23",[] +"""GARD:0022614""","deafness, autosomal recessive 42",[] +"""GARD:0022615""","deafness, autosomal recessive 46",[] +"""GARD:0022616""","deafness, autosomal recessive 53",[] +"""GARD:0022617""","deafness, autosomal recessive 28",[] +"""GARD:0022618""","deafness, autosomal recessive 62",[] +"""GARD:0022619""","deafness, autosomal recessive 49",[] +"""GARD:0022620""","deafness, autosomal recessive 44",[] +"""GARD:0022621""","deafness, autosomal recessive 66",[] +"""GARD:0022622""","deafness, autosomal recessive 59",[] +"""GARD:0022623""","deafness, autosomal recessive 65",[] +"""GARD:0022624""","deafness, autosomal recessive 67",[] +"""GARD:0022625""","deafness, autosomal recessive 68",[] +"""GARD:0022626""","deafness, autosomal recessive 24",[] +"""GARD:0022627""","deafness, autosomal recessive 63",[] +"""GARD:0022628""","deafness, autosomal recessive 45",[] +"""GARD:0022629""","deafness, autosomal recessive 1b",[] +"""GARD:0022630""","deafness, autosomal recessive 71",[] +"""GARD:0022631""","deafness, autosomal recessive 77",[] +"""GARD:0022632""","deafness, autosomal recessive 25",[] +"""GARD:0022633""","deafness, autosomal recessive 79",[] +"""GARD:0022634""","deafness, autosomal recessive 84a","['deafness; autosomal recessive 84a; with vestibular dysfunction', 'deafness; autosomal recessive 84']" +"""GARD:0022635""","deafness, autosomal recessive 85",[] +"""GARD:0022636""","deafness, autosomal recessive 91",[] +"""GARD:0022637""","deafness, autosomal recessive 83",[] +"""GARD:0022638""","deafness, autosomal recessive 74",[] +"""GARD:0022639""","deafness, autosomal recessive 61",[] +"""GARD:0022640""","deafness, autosomal recessive 89",[] +"""GARD:0022641""","deafness, autosomal recessive 29",[] +"""GARD:0022642""","deafness, autosomal recessive 96",[] +"""GARD:0022643""","deafness, autosomal recessive 86",[] +"""GARD:0022644""","deafness, autosomal recessive 98",[] +"""GARD:0022645""","deafness, autosomal recessive 93",[] +"""GARD:0022646""","deafness, autosomal recessive 70",[] +"""GARD:0022647""","deafness, autosomal recessive 84b",[] +"""GARD:0022648""","deafness, autosomal recessive 18b",[] +"""GARD:0022649""","deafness, autosomal recessive 88",[] +"""GARD:0022650""","deafness, autosomal recessive 76",[] +"""GARD:0022651""","deafness, autosomal recessive 101",[] +"""GARD:0022652""","deafness, autosomal recessive 102",[] +"""GARD:0022653""","deafness, autosomal recessive 103",[] +"""GARD:0022654""","deafness, autosomal recessive 104",[] +"""GARD:0022655""","deafness, autosomal recessive 97",[] +"""GARD:0022656""","deafness, autosomal recessive 106",[] +"""GARD:0022657""","deafness, autosomal recessive 107",[] +"""GARD:0022658""","deafness, autosomal recessive 108",[] +"""GARD:0022659""","deafness, autosomal recessive 111",[] +"""GARD:0022660""","deafness, autosomal recessive 100",[] +"""GARD:0022661""","deafness, autosomal recessive 94",[] +"""GARD:0022662""","deafness, autosomal recessive 114",[] +"""GARD:0022663""","deafness, autosomal recessive 99",[] +"""GARD:0022664""","deafness, autosomal recessive 116",[] +"""GARD:0022665""","deafness, autosomal recessive 117",[] +"""GARD:0022666""","intellectual developmental disorder, x-linked 23",[] +"""GARD:0022667""","intellectual developmental disorder, x-linked 20",[] +"""GARD:0022668""","intellectual developmental disorder, x-linked 50",['mental retardation; x-linked 50'] +"""GARD:0022669""","intellectual developmental disorder, x-linked 21","['mental retardation; x-linked 34', 'mental retardation; x-linked 21']" +"""GARD:0022670""","intellectual developmental disorder, x-linked 58",['mental retardation; x-linked 58'] +"""GARD:0022671""","intellectual developmental disorder, x-linked 72",['mental retardation; x-linked 72'] +"""GARD:0022672""","intellectual developmental disorder, x-linked 53",[] +"""GARD:0022673""","intellectual developmental disorder, x-linked 73",[] +"""GARD:0022674""","intellectual developmental disorder, x-linked 42",[] +"""GARD:0022675""","intellectual developmental disorder, x-linked 2",[] +"""GARD:0022676""","intellectual developmental disorder, x-linked 81",[] +"""GARD:0022677""","intellectual developmental disorder, x-linked 46",[] +"""GARD:0022678""","intellectual developmental disorder, x-linked 77",[] +"""GARD:0022679""","intellectual developmental disorder, x-linked 45",[] +"""GARD:0022680""","intellectual developmental disorder, x-linked 84",[] +"""GARD:0022681""","mental retardation, x-linked 82",[] +"""GARD:0022682""","intellectual developmental disorder, x-linked 30","['mental retardation; x-linked 30', 'mental retardation; x-linked 47']" +"""GARD:0022683""",chromosome xp11.22 duplication syndrome,[] +"""GARD:0022684""","intellectual developmental disorder, x-linked 95",[] +"""GARD:0022685""","intellectual developmental disorder, x-linked 96",['mental retardation; x-linked 96'] +"""GARD:0022686""","intellectual developmental disorder, x-linked 97","['mental retardation; x-linked 65', 'mental retardation; x-linked 97', 'mrxz']" +"""GARD:0022687""","intellectual developmental disorder, x-linked 19",['mental retardation; x-linked 19'] +"""GARD:0022688""","mental retardation, x-linked 89",[] +"""GARD:0022689""","intellectual developmental disorder, x-linked 41","['mental retardation; x-linked 41', 'mental retardation; x-linked 48']" +"""GARD:0022690""","intellectual developmental disorder, x-linked 90",['mental retardation; x-linked 90'] +"""GARD:0022691""","mental retardation, x-linked 92",[] +"""GARD:0022692""","mental retardation, x-linked 88",[] +"""GARD:0022693""","intellectual developmental disorder, x-linked 99",['mental retardation; x-linked 99'] +"""GARD:0022694""","intellectual developmental disorder, x-linked 101",['mental retardation; x-linked 101'] +"""GARD:0022695""",tonne-kalscheuer syndrome,"['mental retardation; x-linked 61', 'intellectual developmental disorder with or without hand and foot anomalies; genital anomalies; or congenital diaphragmatic hernia']" +"""GARD:0022696""","intellectual developmental disorder, x-linked 104",['mental retardation; x-linked 104'] +"""GARD:0022697""","intellectual developmental disorder, x-linked 105",['mental retardation; x-linked 105'] +"""GARD:0022698""","intellectual developmental disorder, x-linked 107",['mental retardation; x-linked 107'] +"""GARD:0022699""","intellectual developmental disorder, x-linked 1","['mrx', 'mental retardation; x-linked 18', 'mental retardation; x-linked 1', 'mental retardation; x-linked 78']" +"""GARD:0022700""","intellectual developmental disorder, x-linked 9","['mental retardation; x-linked 44', 'mental retardation; x-linked 9']" +"""GARD:0030000""",rare to-be-classified gard diseases,[] diff --git a/RDAS_GFKG/OrphanMap/J_GARD_master.csv b/RDAS_GFKG/OrphanMap/J_GARD_master.csv new file mode 100644 index 0000000..e8f5f29 --- /dev/null +++ b/RDAS_GFKG/OrphanMap/J_GARD_master.csv @@ -0,0 +1,16040 @@ +GardID,GardIDStatus,DataSource,SourceID,ClassificationLevel,DisorderType,SourceName,SourceSynonym,SourceDescription,OmimMember,ParentOrphaCode,ParentOrphaName,ParentGardID,RdRequestID,GardLegacy_DiseaseName,GardLegacy_GARDisRare,GardLegacy_isSpanish,GardLegacy_StatusName +GARD:1,Active,Orphanet,ORPHA:53693,Disorder,[Disease],GRACILE syndrome,"[Fellman disease, Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome]","An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).",[603358],,,,,GRACILE syndrome,TRUE,FALSE,Active +GARD:10000,Active,Orphanet,ORPHA:94124,Disorder,[Disease],Spinocerebellar ataxia with axonal neuropathy type 1,[SCAN1],"Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.",[607250],,,,,Spinocerebellar ataxia with axonal neuropathy type 1,TRUE,FALSE,Active +GARD:10001,Active,Orphanet,ORPHA:53689,Disorder,[Disease],Congenital chloride diarrhea,,"A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and metabolic alkalosis, resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops.",[214700],,,,,Congenital chloride diarrhea,TRUE,FALSE,Active +GARD:10002,Legacy,GARD,,,,,,,,,,,,BOR-Duane hydrocephalus contiguous gene syndrome,TRUE,FALSE,Active +GARD:10003,Legacy,GARD,,,,,,,,,,,,"Pachygyria, frontotemporal",TRUE,FALSE,Active +GARD:10004,Legacy,GARD,,,,,,,,,,,,"Frontotemporal dementia, ubiquitin-positive",TRUE,FALSE,Active +GARD:10005,Active,Orphanet,ORPHA:871,Disorder,[Disease],Familial progressive cardiac conduction defect,"[Familial Lenègre disease, Familial Lev disease, Familial Lev-Lenègre disease, Familial PCCD, Familial progressive heart block, Hereditary bundle branch defect]","A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.","[604559, 113900, 140400, 115080, 612838]",,,,,Familial progressive cardiac conduction defect,TRUE,FALSE,Active +GARD:10006,Legacy,GARD,,,,,,,,,,,,Brenner tumor of the vagina,TRUE,FALSE,Active +GARD:10007,Active,Orphanet+OMIM,OMIM:300310,Subtype of disorder,[Clinical subtype],Immunodeficiency 61,"[Agammaglobulinemia, x-linked, type 2, xla2]","Immunodeficiency-61 (IMD61) is an X-linked recessive primary immunodeficiency characterized by onset of recurrent infections in early childhood due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production (summary by {1:Keller et al., 2018}).\n\nFor a general phenotypic description of X-linked agammaglobulinemia, see {300755}.",[300310],[47],[X-linked agammaglobulinemia],[1033],,Agammaglobulinemia X-linked type 2,TRUE,FALSE,Active +GARD:10008,Legacy,GARD,,,,,,,,,,,,Colpocephaly,TRUE,FALSE,Active +GARD:10009,Active,Orphanet,ORPHA:1183,Disorder,[Disease],Opsoclonus-myoclonus syndrome,"[Ataxo-opso-myoclonus syndrome, Dancing eye syndrome, Dancing eye-dancing feet syndrome, Kinsbourne syndrome, OMA syndrome, OMS, Opsoclonus-myoclonus-ataxia syndrome, POMA syndrome, Paraneoplastic opsoclonus-myoclonus, Paraneoplastic opsoclonus-myoclonus-ataxia syndrome]","Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.",,,,,,Opsoclonus-myoclonus syndrome,TRUE,FALSE,Active +GARD:1001,Legacy,GARD,,,,,,,,,,,,Branchial arch defects,TRUE,FALSE,Active +GARD:10010,Active,Orphanet,ORPHA:79411,Disorder,[Disease],Self-improving dystrophic epidermolysis bullosa,"[Self-improving DEB, Transient bullous dermolysis of the newborn]",A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.,[131705],,,,,Transient bullous dermolysis of the newborn,TRUE,FALSE,Active +GARD:10011,Active,Orphanet,ORPHA:83617,Disorder,[Malformation syndrome],Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome,,"A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.",[610483],,,,,"Agammaglobulinemia, microcephaly, and severe dermatitis",TRUE,FALSE,Active +GARD:10012,Active,Orphanet,ORPHA:85164,Disorder,[Disease],Camptodactyly-tall stature-scoliosis-hearing loss syndrome,"[CATSHL syndrome, Camptodactyly-tall stature-scoliosis-deafness syndrome]","Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.",[610474],,,,,"Camptodactyly, tall stature, and hearing loss syndrome",TRUE,FALSE,Active +GARD:10013,Legacy,GARD,,,,,,,,,,,,Red cell phospholipid defect with hemolysis,TRUE,FALSE,Active +GARD:10014,Active,Orphanet,ORPHA:97352,Disorder,[Disease],Pellagra,,"Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.",,,,,,Pellagra,TRUE,FALSE,Active +GARD:10016,Legacy,GARD,,,,,,,,,,,,Priapism,TRUE,FALSE,Active +GARD:10018,Active,Orphanet,ORPHA:98974,Disorder,[Disease],Fuchs endothelial corneal dystrophy,"[Endoepithelial corneal dystrophy, FECD, Late hereditary endothelial dystrophy]","A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.","[613270, 613267, 613271, 136800, 613268, 610158, 615523, 613269]",,,,,Fuchs endothelial corneal dystrophy,FALSE,FALSE,Active +GARD:10019,Legacy,GARD,,,,,,,,,,,,Corneal dystrophy Fuchs endothelial 2,FALSE,FALSE,Retired +GARD:1002,Active,Orphanet,ORPHA:1131,Disorder,[Malformation syndrome],X-linked mandibulofacial dysostosis,"[Mandibulofacial dysostosis, Toriello type, X-linked branchial arch syndrome, X-linked mandibulofacial dysostosis with limb anomalies]","X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.",[301950],,,,,Branchial arch syndrome X-linked,TRUE,FALSE,Active +GARD:10022,Legacy,GARD,,,,,,,,,,,,"Vagina, absence of",TRUE,FALSE,Active +GARD:10023,Active,Orphanet+OMIM,OMIM:609220,Subtype of disorder,[Malformation syndrome subtype],Bruck syndrome 2,[Osteogenesis imperfecta with congenital joint contractures],,[609220],[2771],[Bruck syndrome],[1029],,Bruck syndrome 2,TRUE,FALSE,Active +GARD:10024,Active,Orphanet+OMIM,OMIM:277720,Subtype of disorder,[Malformation syndrome subtype],"Whistling face syndrome, recessive form",,"Whistling face syndrome is characterized by an atypical facial appearance with anomalies of the hands and feet. Most cases show autosomal dominant inheritance: see distal arthrogryposis 2A (DA2A; {193700}). There are rare reports of presumably autosomal recessive inheritance (summary by {1:Altunhan et al., 2010}).",[277720],[2053],[Freeman-Sheldon syndrome],[6466],,"Whistling face syndrome, recessive form",TRUE,FALSE,Active +GARD:10025,Active,Orphanet,ORPHA:88632,Group of disorders,[Category],Anterior segment developmental anomaly,[Anterior segment dysgenesis],,"[107250, 617315, 617319]",,,,,Anterior segment dysgenesis,TRUE,FALSE,Active +GARD:10026,Legacy,GARD,,,,,,,,,,,,Piriformis syndrome,TRUE,FALSE,Active +GARD:10027,Active,Orphanet,ORPHA:140,Disorder,[Malformation syndrome],Campomelic dysplasia,[Campomelic dwarfism],"A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype.","[602196, 211990, 114290]",,,,,Campomelic dysplasia,TRUE,FALSE,Active +GARD:10028,Active,Orphanet,ORPHA:99960,Subtype of disorder,[Clinical subtype],Benign recurrent intrahepatic cholestasis type 1,"[BRIC type 1, BRIC1]",,[243300],,,,,Benign recurrent intrahepatic cholestasis 1,TRUE,FALSE,Active +GARD:10029,Active,Orphanet,ORPHA:99961,Subtype of disorder,[Clinical subtype],Benign recurrent intrahepatic cholestasis type 2,"[BRIC type 2, BRIC2]",,[605479],,,,,Benign recurrent intrahepatic cholestasis 2,TRUE,FALSE,Active +GARD:10030,Legacy,GARD,,,,,,,,,,,,Hemorrhagic shock and encephalopathy syndrome,TRUE,FALSE,Active +GARD:10031,Legacy,GARD,,,,,,,,,,,,"Sebaceous gland hyperplasia, familial presenile",TRUE,FALSE,Active +GARD:10032,Legacy,GARD,,,,,,,,,,,,"Presenile dementia, Kraepelin type",TRUE,FALSE,Active +GARD:10033,Active,Orphanet+OMIM,OMIM:608542,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 2",,"Intracranial berry aneurysms are saccular outpouchings of the intracranial arteries, most commonly at arterial bifurcations, characterized by arterial wall remodeling. Most cases of ruptured intracranial berry aneurysms result in a subarachnoid hemorrhage, associated with high morbidity and mortality (summary by {2:van der Voet et al., 2004}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[608542],[231160],[Familial cerebral saccular aneurysm],[17161],,"Aneurysm, intracranial berry, 2",TRUE,FALSE,Active +GARD:10034,Active,Orphanet,ORPHA:231013,Disorder,[Disease],Congenital trigeminal anesthesia,,"Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).",[122450],,,,,"Corneal hypesthesia, familial",TRUE,FALSE,Active +GARD:10035,Legacy,GARD,,,,,,,,,,,,Developmental prosopagnosia,TRUE,FALSE,Active +GARD:10036,Legacy,GARD,,,,,,,,,,,,Autosomal dominant compelling helio ophthalmic outburst syndrome,TRUE,FALSE,Active +GARD:10037,Active,Orphanet,ORPHA:85110,Disorder,[Disease],Familial encephalopathy with neuroserpin inclusion bodies,[FENIB],"A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies).",[604218],,,,,Familial encephalopathy with neuroserpin inclusion bodies,TRUE,FALSE,Active +GARD:10038,Legacy,GARD,,,,,,,,,,,,Pleomorphic malignant fibrous histiocytoma,TRUE,FALSE,Retired +GARD:10039,Active,Orphanet,ORPHA:79155,Disorder,[Disease],Hydroxykynureninuria,"[Kynureninase deficiency, Xanthurenic aciduria]","A rare, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable, ranging from asymptomatic or mild cases presentating with jaundice and vomiting, with subsequent normal development and growth, to more severe cases with manifestions which include intellectual disability, cerebellar ataxia, pellagra, progressive encephalopathy with muscular hypotonia, global developmental delay, stereotyped gestures and/or congenital deafness.",[236800],,,,,Hydroxykynureninuria,TRUE,FALSE,Active +GARD:1004,Legacy,GARD,,,,,,,,,,,,Oculootofacial dysplasia,TRUE,FALSE,Retired +GARD:10040,Legacy,GARD,,,,,,,,,,,,Potato nose,TRUE,FALSE,Active +GARD:10041,Active,Orphanet,ORPHA:1200,Disorder,[Malformation syndrome],Burn-McKeown syndrome,[Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome],"A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.","[608572, 616462]",,,,,Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome,TRUE,FALSE,Active +GARD:10043,Active,Orphanet+OMIM,OMIM:602083,Subtype of disorder,[Clinical subtype],"Usher syndrome, type if",,Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Phenotypic distinctions are based on auditory and vestibular differences. Persons with forms of Usher syndrome type I ({276900}) have congenital severe to profound hearing loss and vestibular dysfunction.,[602083],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1F",TRUE,FALSE,Active +GARD:10044,Legacy,GARD,,,,,,,,,,,,Posterior column ataxia,TRUE,FALSE,Active +GARD:10045,Active,Orphanet,ORPHA:79303,Disorder,[Disease],Congenital bile acid synthesis defect type 2,"[BASD2, Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency]","Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.",[235555],,,,,"Congenital bile acid synthesis defect, type 2",TRUE,FALSE,Active +GARD:10046,Active,Orphanet,ORPHA:79095,Disorder,[Disease],Congenital bile acid synthesis defect type 4,"[2-methylacyl-CoA racemase deficiency, AMACR deficiency, Alpha-methyl-acyl-CoA racemase deficiency, BASD4, Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome]","Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.","[614307, 214950]",,,,,"Bile acid synthesis defect, congenital, 4",TRUE,FALSE,Active +GARD:10047,Active,Orphanet,ORPHA:32,Disorder,[Disease],Glutathione synthetase deficiency,[Pyroglutamicaciduria],"A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.","[266130, 231900]",,,,,Glutathione synthetase deficiency,TRUE,FALSE,Active +GARD:10048,Active,Orphanet,ORPHA:79143,Disorder,[Disease],Isolated congenital anonychia,[Isolated anonychia],"Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.","[107000, 206800, 614149]",,,,,Anonychia congenita,TRUE,FALSE,Retired +GARD:10049,Active,Orphanet,ORPHA:75377,Disorder,[Disease],Central areolar choroidal dystrophy,"[Areolar atrophy of the macula, CACD, Central areolar choroidal sclerosis]","A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.","[215500, 613144, 613105]",,,,,Choroidal dystrophy central areolar,TRUE,FALSE,Active +GARD:10050,Active,Orphanet,ORPHA:41751,Disorder,[Disease],Bietti crystalline dystrophy,"[BCD, Bietti crystalline corneoretinal dystrophy, Bietti crystalline retinopathy]","Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.",[210370],,,,,Bietti crystalline corneoretinal dystrophy,TRUE,FALSE,Active +GARD:10051,Active,Orphanet,ORPHA:69085,Disorder,[Malformation syndrome],Limb-mammary syndrome,[LMS],"A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present.",[603543],,,,,Limb-mammary syndrome,TRUE,FALSE,Active +GARD:10052,Legacy,GARD,,,,,,,,,,,,Devriendt syndrome,TRUE,FALSE,Active +GARD:10053,Active,Orphanet,ORPHA:268835,Disorder,[Morphological anomaly],Lipomyelomeningocele,,"Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.",,,,,,Lipomyelomeningocele,TRUE,FALSE,Active +GARD:10054,Active,Orphanet,ORPHA:2725,Disorder,[Malformation syndrome],Eye defects-arachnodactyly-cardiopathy syndrome,"[Al Gazali-Al Talabani syndrome, Al Gazali-Lytle syndrome]","A rare genetic bone development disorder characterized by pre- and postnatal growth retardation, skeletal anomalies such as arachnodactyly and bilateral talipes equinovarus, joint contractures with camptodactyly, dysmorphic facial features (including midface hypoplasia or micrognathia), and abnormalities of the anterior segment of the eye. Skeletal imaging may show diffuse osteopenia and multiple fractures. The syndrome is lethal within the first year of life.",[609465],,,,,Al Gazali syndrome,TRUE,FALSE,Active +GARD:10055,Legacy,GARD,,,,,,,,,,,,"Holoprosencephaly, recurrent infections, and monocytosis",TRUE,FALSE,Active +GARD:10056,Active,Orphanet,ORPHA:79113,Disorder,[Malformation syndrome],Mandibulofacial dysostosis-microcephaly syndrome,"[MFDM syndrome, Mandibulofacial dysostosis, Guion-Almeida type]","A rare genetic, multiple congenital malformation syndrome characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism (with significantly overlap to Treacher Collins syndrome), developmental delay, and intellectual disability.",[610536],,,,,Mandibulofacial dysostosis with microcephaly,TRUE,FALSE,Active +GARD:10057,Active,Orphanet,ORPHA:168454,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Geneviève type","[SEMD, Geneviève type, SEMDG]","Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.",[610442],,,,,Spondyloepimetaphyseal dysplasia Genevieve type,TRUE,FALSE,Active +GARD:10058,Legacy,GARD,,,,,,,,,,,,Iridogoniodysgenesis and skeletal anomalies,TRUE,FALSE,Active +GARD:10059,Legacy,GARD,,,,,,,,,,,,Dystelephalangy,TRUE,FALSE,Active +GARD:10061,Active,Orphanet,ORPHA:50809,Disorder,[Malformation syndrome],Talo-patello-scaphoid osteolysis,[Singh-Williams-McAlister syndrome],"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.",[609655],,,,,"Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals",TRUE,FALSE,Active +GARD:10062,Legacy,GARD,,,,,,,,,,,,Talonavicular coalition,TRUE,FALSE,Active +GARD:10063,Legacy,GARD,,,,,,,,,,,,"Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss",TRUE,FALSE,Active +GARD:10064,Legacy,GARD,,,,,,,,,,,,"Mental retardation, keratoconus, febrile seizures, and sinoatrial block",TRUE,FALSE,Retired +GARD:10065,Legacy,GARD,,,,,,,,,,,,"Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema",TRUE,FALSE,Active +GARD:10066,Active,Orphanet,ORPHA:498485,Disorder,[Malformation syndrome],Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome,,"A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.",[608811],,,,,"Metaphyseal undermodeling, spondylar dysplasia, and overgrowth",TRUE,FALSE,Active +GARD:10067,Legacy,GARD,,,,,,,,,,,,"Lateral semicircular canal malformation, familial, with external and middle ear abnormalities",TRUE,FALSE,Active +GARD:10068,Legacy,GARD,,,,,,,,,,,,"Taurodontism, microdontia, and dens invaginatus",TRUE,FALSE,Active +GARD:10069,Legacy,GARD,,,,,,,,,,,,Dens in dente and palatal invaginations,TRUE,FALSE,Active +GARD:10070,Active,Orphanet,ORPHA:251639,Disorder,[Disease],Subependymoma,,"Subependymoma is a rare and slow growing type of ependymoma (see this term), often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.",,,,,,Subependymoma,TRUE,FALSE,Active +GARD:10071,Legacy,GARD,,,,,,,,,,,,Pulmonic stenosis,TRUE,FALSE,Active +GARD:10072,Active,Orphanet,ORPHA:85182,Disorder,[Disease],Diaphyseal medullary stenosis-bone malignancy syndrome,"[Bone dysplasia-medullary fibrosarcoma syndrome, Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome, Hardcastle syndrome]","Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).",[112250],,,,,Diaphyseal medullary stenosis with malignant fibrous histiocytoma,TRUE,FALSE,Active +GARD:10073,Legacy,GARD,,,,,,,,,,,,Cerebral sarcoma,TRUE,FALSE,Active +GARD:10074,Legacy,GARD,,,,,,,,,,,,Abderhalden Kaufmann Lignac syndrome,TRUE,FALSE,Retired +GARD:10075,Active,Orphanet+OMIM,OMIM:601230,Subtype of disorder,[Disease subtype],"Dermatitis herpetiformis, familial",[Dh],"Dermatitis herpetiformis (DH) and celiac disease (CD; {212750}) are gluten-sensitive diseases. In classic CD the small intestine is predominantly affected, whereas in DH the skin is also affected, showing typical rash and IgA deposits.\n\n{3:Reunala (1996)} reported on the familial incidence of DH in a prospective study started in 1969 in Finland. A total of 1,018 patients with DH were diagnosed and questioned for positive family histories. Of the 999 unrelated DH patients, 105 (10.5%) had 1 or several affected first-degree relatives. Disease in the relatives was either DH (4.4%) or CD (6.1%). Analysis of the 105 families showed that 13.6% of parents, 18.7% of sibs, and 14% of children were affected, a segregation pattern that fitted well to a mendelian dominant mode of inheritance. Gender may also be important because the first-degree relatives affected with DH were more often females and those affected with CD twice as often females as males.\n\nDH and CD have a common immunogenetic background; both disorders are associated with HLA alleles DQA1*0501 (see {146880}) and B1*0201 (see {142857}). {1:Karell et al. (2002)} evaluated the role of the HLA-DQ locus in 25 families in which both classic CD and DH occurred in sibs. By using a family-based approach, they assumed that within each family, variation in environmental factors was substantially lower than in the standard case-control setting, and that the problems related to population stratification could be avoided. Results from Finnish family material comprising 25 discordant and 85 concordant sib pairs, and from case-control material comprising 71 unrelated Hungarian DH and 68 classic CD patients, together indicated that the HLA-DQ locus did not differ between the 2 major outcomes of gluten-sensitive enteropathy. The authors concluded that non-HLA-DR;DQ factors are crucial for the different clinical manifestations of gluten sensitivity.\n\nUsing ELISA, {4:Sardy et al. (2002)} found that sera from both CD and DH reacted with tissue transglutaminase (TGM2; {190196}) and epidermal transglutaminase (TGM3; {600238}), but the DH antibodies had a markedly higher avidity for TGM3. Immunofluorescence and confocal microscopy demonstrated that IgA precipitates in the papillary dermis of DH patients contained TGM3, but not keratinocyte transglutaminase (TGM1; {190195}) or TGM2. {4:Sardy et al. (2002)} concluded that TGM3 is the dominant autoantigen in DH, explaining why skin symptoms rather than intestinal symptoms appear in a proportion of patients with gluten-sensitive disease.",[601230],[1656],[Dermatitis herpetiformis],[1917],,Dermatitis herpetiformis familial,TRUE,FALSE,Retired +GARD:10076,Legacy,GARD,,,,,,,,,,,,"Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia",TRUE,FALSE,Active +GARD:10077,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia acromesomelic with genital anomalies,TRUE,FALSE,Active +GARD:10078,Legacy,GARD,,,,,,,,,,,,Crumpled helices and small mouth,TRUE,FALSE,Active +GARD:10079,Legacy,GARD,,,,,,,,,,,,"Hydroa vacciniforme, familial",TRUE,FALSE,Active +GARD:10080,Legacy,GARD,,,,,,,,,,,,Catatrichy,TRUE,FALSE,Active +GARD:10081,Active,Orphanet,ORPHA:2475,Disorder,[Malformation syndrome],White forelock with malformations,,"White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.",[277740],,,,,White forelock with malformations,TRUE,FALSE,Active +GARD:10082,Active,Orphanet,ORPHA:85179,Disorder,[Malformation syndrome],Infantile osteopetrosis with neuroaxonal dysplasia,,"This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.","[259720, 600329]",,,,,Osteopetrosis and infantile neuroaxonal dystrophy,TRUE,FALSE,Active +GARD:10083,Active,Orphanet,ORPHA:79124,Disorder,[Disease],Hepatic veno-occlusive disease-immunodeficiency syndrome,[VODI syndrome],"A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.",[235550],,,,,Hepatic venoocclusive disease with immunodeficiency,TRUE,FALSE,Active +GARD:10084,Active,Orphanet,ORPHA:141148,Disorder,[Malformation syndrome],Hemifacial myohyperplasia,,"Hemifacial myohyperplasia is a rare developmental defect during embryogenesis characterized by unilateral hyperplasia of the facial musculature with no evidence of hyperplasia of bone or other organ systems. It clinically present with dimpling of the skin, ptosis, enophthalmos, narrow palpebral fissure, auricular displacement, smaller nasal vestibule, and nasal and chin deviation on the affected side. Facial paresis of the affected side and mild ipsilateral hypoplasia of the facial skeleton might be present.",[606773],,,,,Hemifacial myohyperplasia,TRUE,FALSE,Active +GARD:10085,Legacy,GARD,,,,,,,,,,,,Klebsiella infection,TRUE,FALSE,Active +GARD:10086,Legacy,GARD,,,,,,,,,,,,"Neuropathy, congenital, with arthrogryposis multiplex",TRUE,FALSE,Active +GARD:10087,Legacy,GARD,,,,,,,,,,,,"Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies",TRUE,FALSE,Active +GARD:10088,Active,Orphanet,ORPHA:77297,Disorder,[Disease],Majeed syndrome,[Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome],"Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.",[609628],,,,,Majeed syndrome,TRUE,FALSE,Active +GARD:10089,Active,Orphanet,ORPHA:2886,Disorder,[Malformation syndrome],TARP syndrome,"[Pierre Robin sequence-congenital heart defect-talipes syndrome, Pierre Robin syndrome-congenital heart defect-talipes syndrome, Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome]","TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.",[311900],,,,,TARP syndrome,TRUE,FALSE,Active +GARD:10090,Active,Orphanet+OMIM,OMIM:602196,Subtype of disorder,[Malformation syndrome subtype],Pierre robin sequence with pectus excavatum and rib and scapular anomalies,"[Skeletal dysplasia related to campomelic dysplasia, campomelic dysplasia, mild]",,[602196],[140],[Campomelic dysplasia],[10027],,Pierre Robin sequence with pectus excavatum and rib and scapular anomalies,TRUE,FALSE,Active +GARD:10091,Active,Orphanet,ORPHA:821,Disorder,[Disease],Sotos syndrome,[Cerebral gigantism],"A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment.","[117550, 617169]",,,,,Sotos syndrome,TRUE,FALSE,Active +GARD:10092,Active,Orphanet,ORPHA:79230,Disorder,[Disease],Hemochromatosis type 2,[Juvenile hemochromatosis],"Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.","[602390, 613313]",,,,,Hemochromatosis type 2,TRUE,FALSE,Active +GARD:10093,Active,Orphanet,ORPHA:225123,Disorder,[Disease],Hemochromatosis type 3,[TFR2-related hemochromatosis],"Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.",[604250],,,,,Hemochromatosis type 3,TRUE,FALSE,Active +GARD:10094,Active,Orphanet,ORPHA:139491,Disorder,[Disease],Hemochromatosis type 4,"[Autosomal dominant hereditary hemochromatosis, Ferroportin disease, Hemochromatosis due to defect in ferroportin]","Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.",[606069],,,,,Hemochromatosis type 4,TRUE,FALSE,Active +GARD:10095,Active,Orphanet+OMIM,OMIM:602481,Subtype of disorder,[Disease subtype],"Migraine, familial hemiplegic, 2",[Mhp2],,[602481],[569],[Familial or sporadic hemiplegic migraine],[10768],,Familial hemiplegic migraine type 2,TRUE,FALSE,Retired +GARD:10096,Active,Orphanet,ORPHA:523,Disorder,[Disease],Hereditary leiomyomatosis and renal cell cancer,"[Familial leiomyomatosis and renal cell cancer, Familial leiomyomatosis cutis et uteri, Familial leiomyomatosis with renal carcinoma, Familial multiple cutaneous leiomyomas, HLRCC, Hereditary leiomyomatosis, Hereditary leiomyomatosis with renal carcinoma, Hereditary multiple cutaneous leiomyomas, MCUL, Multiple cutaneous and uterine leiomyomas, Reed syndrome]","Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.",[150800],,,,,Hereditary leiomyomatosis and renal cell cancer,TRUE,FALSE,Active +GARD:10097,Active,Orphanet+OMIM,OMIM:150700,Subtype of disorder,[Clinical subtype],Leiomyoma of vulva and esophagus,"[Leiomyomatosis, esophagogastric and vulvar]",,[150700],[1018],[X-linked Alport syndrome-diffuse leiomyomatosis],[2432],,Leiomyoma of vulva and esophagus,TRUE,FALSE,Active +GARD:10098,Legacy,GARD,,,,,,,,,,,,Trichorrhexis nodosa syndrome,TRUE,FALSE,Retired +GARD:10099,Active,Orphanet,ORPHA:33573,Disorder,[Disease],Gamma-glutamyl transpeptidase deficiency,"[Gamma-glutamyl transferase deficiency, Glutathionuria]",A disorder that is characterized by increased glutathione concentration in the plasma and urine.,[231950],,,,,Glutathionuria,TRUE,FALSE,Active +GARD:101,Active,Orphanet,ORPHA:595,Group of disorders,[Clinical group],Centronuclear myopathy,[CNM],A rare group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The clinical picture and other histologic features varies according to gene involved and mode of inheritance.,,,,,,Centronuclear myopathy,TRUE,FALSE,Active +GARD:10100,Legacy,GARD,,,,,,,,,,,,Tietze syndrome,TRUE,FALSE,Active +GARD:10101,Active,Orphanet,ORPHA:168443,Disorder,[Disease],Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome,,"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.",[183849],,,,,Spondyloepimetaphyseal dysplasia with hypotrichosis,TRUE,FALSE,Active +GARD:10102,Legacy,GARD,,,,,,,,,,,,"Ehlers-Danlos syndrome, Beasley Cohen type",TRUE,FALSE,Retired +GARD:10103,Active,Orphanet,ORPHA:79148,Disorder,[Disease],Elastosis perforans serpiginosa,,"A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.",[130100],,,,,Elastosis perforans serpiginosa,TRUE,FALSE,Active +GARD:10104,Active,Orphanet+OMIM,OMIM:177850,Subtype of disorder,[Disease subtype],"Pseudoxanthoma elasticum, forme fruste",,,[177850],[758],[Pseudoxanthoma elasticum],[9643],,"Pseudoxanthoma elasticum, forme fruste",TRUE,FALSE,Active +GARD:10106,Active,Orphanet,ORPHA:178389,Disorder,[Disease],Osteopetrosis-hypogammaglobulinemia syndrome,"[Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia, Autosomal recessive osteopetrosis type 7]","Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.",[612301],,,,,Osteopetrosis autosomal recessive 7,TRUE,FALSE,Active +GARD:10107,Legacy,GARD,,,,,,,,,,,,Tetralogy of fallot and glaucoma,TRUE,FALSE,Active +GARD:10108,Active,Orphanet+OMIM,OMIM:608931,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency","[myasthenia, familial infantile, 1, formerly, cms id, formerly, Myasthenic syndrome, congenital, type id]","Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG ({100730}) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by {7:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[608931],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,Congenital myasthenic syndrome associated with acetylcholine receptor deficiency,TRUE,FALSE,Active +GARD:10109,Active,Orphanet,ORPHA:199,Disorder,[Malformation syndrome],Cornelia de Lange syndrome,[Brachmann-de Lange syndrome],"A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present.","[610759, 614701, 300590, 122470, 300882]",,,,,Cornelia de Lange syndrome,TRUE,FALSE,Active +GARD:10111,Active,Orphanet+OMIM,OMIM:161800,Subtype of disorder,[Disease subtype],Nemaline myopathy 3,,"Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles ({17:Ilkovski et al., 2001}). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease ({31:North et al., 1997}; {53:Wallgren-Pettersson et al., 1999}; {37:Ryan et al., 2001}; {38:Sanoudou and Beggs, 2001}). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease ({53:Wallgren-Pettersson et al., 1999}; {38:Sanoudou and Beggs, 2001}).\n\nMyopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors ({32:Nowak et al., 1999}; {23:Kaindl et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Nemaline Myopathy\n\nSee also NEM1 ({609284}), caused by mutation in the tropomyosin-3 gene (TPM3; {191030}) on chromosome 1q22; NEM2 ({256030}), caused by mutation in the nebulin gene (NEB; {161650}) on chromosome 2q23; NEM4 ({609285}), caused by mutation in the beta-tropomyosin gene (TPM2; {190990}) on chromosome 9p13; NEM5 ({605355}), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1; {191041}) on chromosome 19q13; NEM6 ({609273}), caused by mutation in the KBTBD13 gene ({613727}) on chromosome 15q22; NEM7 ({610687}), caused by mutation in the cofilin-2 gene (CFL2; {601443}) on chromosome 14q13; NEM8 ({615348}), caused by mutation in the KLHL40 gene ({615340}), on chromosome 3p22; NEM9 ({615731}), caused by mutation in the KLHL41 gene ({607701}) on chromosome 2q31; NEM10 ({616165}), caused by mutation in the LMOD3 gene ({616112}) on chromosome 3p14; and NEM11 ({617336}), caused by mutation in the MYPN gene ({608517}) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments ({38:Sanoudou and Beggs, 2001}).\n\nMutations in the NEB gene are the most common cause of nemaline myopathy ({25:Lehtokari et al., 2006}).",[161800],"[171436, 171433, 171430, 171439]","[Severe congenital nemaline myopathy, Typical nemaline myopathy, Intermediate nemaline myopathy, Childhood-onset nemaline myopathy]","[12821, 12822, 12823, 7171]",,Nemaline myopathy 3,TRUE,FALSE,Retired +GARD:10112,Legacy,GARD,,,,,,,,,,,,Nemaline myopathy 4,TRUE,FALSE,Retired +GARD:10114,Legacy,GARD,,,,,,,,,,,,Nemaline myopathy 6,TRUE,FALSE,Retired +GARD:10115,Legacy,GARD,,,,,,,,,,,,Hyperostosis-hyperphosphatemia syndrome,TRUE,FALSE,Active +GARD:10116,Active,Orphanet,ORPHA:91132,Disorder,[Disease],Ichthyosis-hypotrichosis syndrome,"[Hypotrichosis-congenital ichthyosis syndrome, IFAH syndrome, IHS, Ichthyosis-follicular atrophoderma-hypotrichosis syndrome, Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome]","Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.",[602400],,,,,"Ichthyosis with hypotrichosis, autosomal recessive",TRUE,FALSE,Active +GARD:10117,Legacy,GARD,,,,,,,,,,,,Retinal cone dystrophy 2,TRUE,FALSE,Active +GARD:10118,Active,Orphanet,ORPHA:75382,Disorder,[Malformation syndrome],Oguchi disease,"[Congenital stationary night blindness, Oguchi type, Oguchi syndrome]",Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.,"[613411, 258100]",,,,,Oguchi disease,TRUE,FALSE,Active +GARD:10119,Active,Orphanet+OMIM,OMIM:304030,Subtype of disorder,[Disease subtype],"Cone dystrophy, x-linked, with tapetal-like sheen",,"{1:Heckenlively and Weleber (1986)} described 2 families with a 'new' form of X-linked cone dystrophy characterized by a peculiar greenish-golden tapetal-like sheen of large areas of the retina; onset of symptoms in the third decade; gradual loss of vision with development of macular lesions in older patients; defective color vision; elevated cone thresholds on dark adaptometry; and abnormalities of the cone-mediated electroretinogram. One patient developed rhegmatogenous retinal detachment in one eye. Although the disorder was different from Oguchi disease ({258100}) in clinical features and mode of inheritance, the patients showed the Mizuo-Nakamura phenomenon as in Oguchi disease: fading of the retinal sheen with clearer revealing of choroidal structures, on dark adaptation.",[304030],[1871],[Progressive cone dystrophy],[11897],,Cone dystrophy X-linked with tapetal-like sheen,TRUE,FALSE,Active +GARD:10120,Active,Orphanet+OMIM,OMIM:153840,Subtype of disorder,[Disease subtype],"Macular dystrophy, vitelliform, 1","[Macular dystrophy, atypical vitelliform]","Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {4:Manes et al., 2013}). In contrast to typical VMD (see {153700}), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals ({2:Hittner et al., 1984}).\n\n<Subhead> Genetic Heterogeneity of Vitelliform Macular Dystrophy\n\nSee also vitelliform macular dystrophy-2 (VMD2; {153700}), caused by mutation in the BEST1 gene ({607854}) on chromosome 11q; VMD3 ({608161}), caused by mutation in the PRPH2 gene ({179605}) on chromosome 6p21; VMD4 ({616151}), caused by mutation in the IMPG1 gene ({602870}) on chromosome 6q14; and VMD5 ({616152}), caused by mutation in the IMPG2 gene ({607056}) on chromosome 3q12.",[153840],[99000],[Adult-onset foveomacular vitelliform dystrophy],[10909],,"Macular dystrophy, atypical vitelliform",TRUE,FALSE,Active +GARD:10121,Active,Orphanet,ORPHA:75858,Disorder,[Disease],MORM syndrome,[Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome],"A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.",[610156],,,,,MORM syndrome,TRUE,FALSE,Active +GARD:10123,Active,Orphanet,ORPHA:75373,Disorder,[Disease],Progressive bifocal chorioretinal atrophy,"[CRAPB, PBCRA]","Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.",[600790],,,,,Progressive bifocal chorioretinal atrophy,TRUE,FALSE,Active +GARD:10125,Legacy,GARD,,,,,,,,,,,,Agnathia-microstomia-synotia,TRUE,FALSE,Active +GARD:10126,Active,Orphanet,ORPHA:79256,Subtype of disorder,[Clinical subtype],GM1 gangliosidosis type 2,"[Juvenile GM1 gangliosidosis, Late-infantile GM1 gangliosidosis]","GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.",[230600],,,,,GM1 gangliosidosis type 2,TRUE,FALSE,Active +GARD:10127,Active,Orphanet,ORPHA:325448,Subtype of disorder,[Clinical subtype],Leydig cell hypoplasia due to LHB deficiency,"[46,XY DSD due to LHB deficiency, 46,XY DSD due to luteinizing hormone subunit beta deficiency, 46,XY disorder of sex development due to LHB deficiency, 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency, Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency]",,[228300],,,,,Fertile eunuch syndrome,TRUE,FALSE,Active +GARD:10128,Active,Orphanet,ORPHA:52901,Disorder,[Disease],Isolated follicle stimulating hormone deficiency,[Isolated FSH deficiency],"A rare congenital hypogonadotropic hypogonadism characterized by hypogonadism due to selective deficiency of follicle stimulating hormone (FSH). Clinical manifestations are primary amenorrhea, absent or incomplete breast development, and infertility in women, and small testes, azoospermia, and infertility in men. Luteinizing hormone is elevated in the gonadotropin-releasing hormone stimulation test, while the FSH response is impaired.",[229070],,,,,"Follicle-stimulating hormone deficiency, isolated",TRUE,FALSE,Active +GARD:10129,Active,Orphanet,ORPHA:90674,Disorder,[Disease],Isolated thyroid-stimulating hormone deficiency,"[Isolated TSH deficiency, Isolated thyrotropin deficiency]","A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.",[275100],,,,,"Thyrotropin deficiency, isolated",TRUE,FALSE,Active +GARD:10130,Active,Orphanet,ORPHA:48652,Disorder,[Malformation syndrome],Monosomy 22q13.3,"[22q13.3 deletion, Phelan-McDermid syndrome]","Monosomy 22q13.3 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.",[606232],,,,,22q13.3 deletion syndrome,TRUE,FALSE,Active +GARD:10131,Active,Orphanet,ORPHA:90117,Disorder,[Disease],"Hereditary motor and sensory neuropathy, Okinawa type","[HMSNP, Hereditary motor and sensory neuropathy, proximal type]","Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.",[604484],,,,,"Neuropathy, hereditary motor and sensory, Okinawa type",TRUE,FALSE,Active +GARD:10132,Active,Orphanet,ORPHA:99953,Disorder,[Disease],Charcot-Marie-Tooth disease type 4G,"[CMT4G, HMSNR, Hereditary motor and sensory neuropathy, Russe Type]","Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.",[605285],,,,,"Neuropathy, hereditary motor and sensory, Russe type",TRUE,FALSE,Active +GARD:10133,Active,Orphanet,ORPHA:139552,Disorder,[Disease],"Distal hereditary motor neuropathy, Jerash type","[Autosomal recessive distal spinal muscular atrophy type 2, dHMNJ]","A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).",[605726],,,,,"Neuropathy, distal hereditary motor, Jerash type",TRUE,FALSE,Active +GARD:10134,Legacy,GARD,,,,,,,,,,,,Camptodactyly-ichthyosis syndrome,TRUE,FALSE,Active +GARD:10135,Legacy,GARD,,,,,,,,,,,,"Arthrogryposis, distal, type 2E",TRUE,FALSE,Retired +GARD:10136,Legacy,GARD,,,,,,,,,,,,"Xeroderma pigmentosum, type 9",TRUE,FALSE,Retired +GARD:10137,Legacy,GARD,,,,,,,,,,,,"Whispering dysphonia, hereditary",TRUE,FALSE,Retired +GARD:10138,Active,Orphanet,ORPHA:98805,Disorder,[Disease],"Primary dystonia, DYT4 type","[DYT4, Hereditary whispering dysphonia]",DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).,[128101],,,,,DYT-TUBB4A,TRUE,FALSE,Active +GARD:10139,Legacy,GARD,,,,,,,,,,,,Chondrocalcinosis due to apatite crystal deposition,TRUE,FALSE,Active +GARD:10140,Active,Orphanet,ORPHA:97297,Disorder,[Malformation syndrome],Bohring-Opitz syndrome,"[BOS syndrome, Bohring syndrome, C-like syndrome, Oberklaid-Danks syndrome, Opitz trigonocephaly-like syndrome]","A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints.",[605039],,,,,Bohring-Opitz syndrome,TRUE,FALSE,Active +GARD:10141,Legacy,GARD,,,,,,,,,,,,"Myelocytic leukemia-like syndrome, familial, chronic",TRUE,FALSE,Active +GARD:10142,Active,Orphanet,ORPHA:216804,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 2,"[Lethal osteogenesis imperfecta, OI type 2]","A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.","[166210, 259440, 610915, 610682]",,,,,Osteogenesis imperfecta type II,TRUE,FALSE,Active +GARD:10143,Legacy,GARD,,,,,,,,,,,,Osteogenesis imperfecta type 2B,TRUE,FALSE,Retired +GARD:10144,Active,Orphanet,ORPHA:166265,Subtype of disorder,[Clinical subtype],Dentinogenesis imperfecta type 3,"[Dentinogenesis imperfecta, Shields type 3]","Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).",[125500],,,,,Dentinogenesis imperfecta type 3,TRUE,FALSE,Active +GARD:10145,Active,Orphanet,ORPHA:1713,Disorder,[Malformation syndrome],17p11.2 microduplication syndrome,"[Potocki-Lupski syndrome, Trisomy 17p11.2]","17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.",[610883],,,,,Potocki-Lupski syndrome,TRUE,FALSE,Active +GARD:10146,Legacy,GARD,,,,,,,,,,,,Anomalous origin of right pulmonary artery familial,TRUE,FALSE,Active +GARD:10147,Active,Orphanet,ORPHA:107,Disorder,[Malformation syndrome],BOR syndrome,[Branchiootorenal syndrome],"A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).","[610896, 113650]",,,,,Branchiootorenal syndrome,TRUE,FALSE,Active +GARD:10148,Active,Orphanet,ORPHA:52429,Disorder,[Malformation syndrome],Branchiootic syndrome,,"Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).","[602588, 120502, 608389]",,,,,Branchiootic syndrome,TRUE,FALSE,Active +GARD:10149,Active,Orphanet,ORPHA:1801,Disorder,[Malformation syndrome],Kyphomelic dysplasia,,"A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide iliac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.",[211350],,,,,Kyphomelic dysplasia,TRUE,FALSE,Active +GARD:10150,Legacy,GARD,,,,,,,,,,,,Idiopathic subglottic tracheal stenosis,TRUE,FALSE,Active +GARD:10151,Active,Orphanet+OMIM,OMIM:612952,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 5,,,[612952],[51],[Aicardi-Goutières syndrome],[575],,Aicardi-Goutieres syndrome type 5,TRUE,FALSE,Retired +GARD:10152,Active,Orphanet+OMIM,OMIM:610915,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type viii","[Oi, type viii]","Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {3:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}). {2:Cabral et al. (2007)} described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.",[610915],"[216804, 216812]","[Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3]","[10142, 8695]",,Osteogenesis imperfecta type VIII,TRUE,FALSE,Active +GARD:10153,Active,Orphanet,ORPHA:31837,Disorder,[Disease],Pulmonary venoocclusive disease,,,[265450],,,,,Pulmonary venoocclusive disease,TRUE,FALSE,Active +GARD:10155,Legacy,GARD,,,,,,,,,,,,Fetal macrosomia,TRUE,FALSE,Active +GARD:10156,Active,Orphanet,ORPHA:264688,Disorder,[Disease],Congenital chylothorax,,"Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.",[603523],,,,,"Chylothorax, congenital",TRUE,FALSE,Active +GARD:10158,Legacy,GARD,,,,,,,,,,,,Torsion dystonia,TRUE,FALSE,Retired +GARD:10160,Legacy,GARD,,,,,,,,,,,,Reed syndrome,TRUE,FALSE,Retired +GARD:10161,Legacy,GARD,,,,,,,,,,,,Onychotrichodysplasia and neutropenia,TRUE,FALSE,Active +GARD:10162,Legacy,GARD,,,,,,,,,,,,Papillary cystadenocarcinoma,TRUE,FALSE,Active +GARD:10163,Active,Orphanet,ORPHA:307766,Disorder,[Disease],Curly hair-acral keratoderma-caries syndrome,"[CHAC syndrome, CHACS]","Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.",[607656],,,,,Curly hair-acral keratoderma-caries syndrome,TRUE,FALSE,Active +GARD:10164,Legacy,GARD,,,,,,,,,,,,Plagiocephaly,TRUE,FALSE,Active +GARD:10165,Legacy,GARD,,,,,,,,,,,,Nonseminomatous germ cell tumor,TRUE,FALSE,Active +GARD:10166,Legacy,GARD,,,,,,,,,,,,Cerebrospinal fluid leak,TRUE,FALSE,Active +GARD:10167,Active,Orphanet+OMIM,OMIM:608091,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 2,[Cerebellooculorenal syndrome 2],"Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices ({4:Maria et al., 1997}). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) ({1:Chance et al., 1999}; {5:Satran et al., 1999}).",[608091],[2318],[Joubert syndrome with oculorenal defect],[9455],,Joubert syndrome 2,TRUE,FALSE,Active +GARD:10168,Active,Orphanet,ORPHA:220493,Disorder,[Malformation syndrome],Joubert syndrome with ocular defect,"[JS-O, Joubert syndrome with retinopathy]","Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.","[614424, 614464, 614970, 608629, 617121]",,,,,Joubert syndrome with ocular anomalies,TRUE,FALSE,Active +GARD:10169,Active,Orphanet,ORPHA:220497,Disorder,[Malformation syndrome],Joubert syndrome with renal defect,[JS-R],"Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.","[614424, 611560, 609583]",,,,,Joubert syndrome with renal anomalies,TRUE,FALSE,Active +GARD:1017,Active,Orphanet,ORPHA:666,Disorder,[Disease],Osteogenesis imperfecta,"[Brittle bone disease, Glass bone disease, Lobstein disease, OI]","A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous.","[166230, 613982, 166210, 259440, 615066, 259420, 610682, 619131, 614856, 613848, 616229, 610915, 166220, 166200, 610967, 615220, 610968, 616507, 613849]",,,,,Osteogenesis imperfecta,TRUE,FALSE,Active +GARD:10173,Active,Orphanet,ORPHA:83451,Disorder,[Disease],Florid cemento-osseous dysplasia,"[Florid osseous dysplasia, Focal cemento-osseous dysplasia]","Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.",,,,,,Florid cemento-osseous dysplasia,TRUE,FALSE,Active +GARD:10174,Legacy,GARD,,,,,,,,,,,,Florid papillomatosis of the nipple,TRUE,FALSE,Active +GARD:10175,Active,Orphanet,ORPHA:99978,Disorder,[Disease],Klatskin tumor,"[Hilar CCA, Hilar cholangiocarcinoma]","Klatskin tumor is an extra-hepatic cholangiocarcinoma (CCA, see this term) arising in the junction of the main right or left hepatic ducts to form the common hepatic duct.",,,,,,Klatskin tumor,TRUE,FALSE,Active +GARD:10176,Legacy,GARD,,,,,,,,,,,,Mastocytic enterocolitis,TRUE,FALSE,Active +GARD:10177,Active,Orphanet,ORPHA:521219,Disorder,[Clinical syndrome],Mirizzi syndrome,[Extrinsic biliary compression syndrome],"A rare biliary tract disease characterized by external compression and subsequent obstruction of an extrahepatic biliary duct by one or more gallstones in the cystic duct or the gallbladder. Patients may present with acute or chronic cholecystitis with right upper abdominal pain, nausea, and vomiting, jaundice, or cholangitis. Cholecystobiliary or -enteric fistulae can arise due to chronic inflammation and ulceration.",,,,,,Mirizzi syndrome,TRUE,FALSE,Active +GARD:10178,Legacy,GARD,,,,,,,,,,,,Weyers ulnar ray/oligodactyly syndrome,TRUE,FALSE,Active +GARD:10179,Active,Orphanet,ORPHA:79493,Disorder,[Disease],Brooke-Spiegler syndrome,[CYLD cutaneous syndrome],"A rare genetic disease characterized as an inherited skin tumour predisposition syndrome presenting with skin appendage tumours, namely cylindromas, spiradenomas and trichoepitheliomas","[132700, 612099, 601606, 605041]",,,,,CYLD cutaneous syndrome,TRUE,FALSE,Active +GARD:1018,Legacy,GARD,,,,,,,,,,,,Brittle bone syndrome lethal type,TRUE,FALSE,Active +GARD:10181,Active,Orphanet,ORPHA:293202,Disorder,[Disease],Epithelioid sarcoma,,"Epithelioid sarcoma is a rare, soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body.",,,,,,Epithelioid sarcoma,TRUE,FALSE,Active +GARD:10182,Legacy,GARD,,,,,,,,,,,,Hereditary antithrombin deficiency type 2,TRUE,FALSE,Active +GARD:10183,Legacy,GARD,,,,,,,,,,,,Hemoglobin Zurich,TRUE,FALSE,Active +GARD:10184,Active,Orphanet,ORPHA:398088,Disorder,[Disease],Hereditary cryohydrocytosis with normal stomatin,,"Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.",[185020],,,,,Pseudohyperkalemia Cardiff,TRUE,FALSE,Active +GARD:10185,Legacy,GARD,,,,,,,,,,,,Chester porphyria,TRUE,FALSE,Active +GARD:10186,Legacy,GARD,,,,,,,,,,,,Urachal adenocarcinoma,TRUE,FALSE,Active +GARD:10188,Active,Orphanet+OMIM,OMIM:300652,Subtype of disorder,[Disease subtype],"Angioma serpiginosum, x-linked",,"Angioma serpiginosum (AS) is a rare benign congenital skin disorder characterized by nonpurpuric red punctate lesions seen histologically as capillary ectasias in the superficial papillary dermis. The lesions often follow Blaschko lines and are most commonly found in females (90%) ({1:Blinkenberg et al., 2007}).\n\nSee {106050} for additional phenotypic information and possible autosomal dominant inheritance or cutaneous somatic mosaicism ({2:Chen et al., 2006}; {1:Blinkenberg et al., 2007}).",[300652],[95429],[Angioma serpiginosum],[15021],,Angioma serpiginosum,TRUE,FALSE,Active +GARD:10189,Active,Orphanet+OMIM,OMIM:106050,Subtype of disorder,[Disease subtype],"Angioma serpiginosum, autosomal dominant",,"Angioma serpiginosum is an uncommon benign skin disorder characterized by asymptomatic clusters of nonpurpuric punctate erythematous lesions. The rash is asymptomatic but may lead to cosmetic problems and can be treated by laser therapy. Women are most commonly affected, and the disorder is most often sporadic, although rare families suggestive of autosomal dominant inheritance have been reported ({8:Sandhu and Gupta, 2005}). No male-to-male transmission has been described, but father-to-daughter transmissions are known. It has been suggested that the pattern of skin involvement may be due to cutaneous somatic mosaicism ({3:Chen et al., 2006}; {2:Blinkenberg et al., 2007}).\n\nAn X-linked dominant form of angioma serpiginosum ({300652}) has been mapped. The few males described may actually represent somatic mosaicism of an X-linked gene.",[106050],[95429],[Angioma serpiginosum],[15021],,"Angioma serpiginosum, autosomal dominant",TRUE,FALSE,Retired +GARD:1019,Active,Orphanet,ORPHA:90354,Disorder,[Disease],Brittle cornea syndrome,,"A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.","[614170, 229200]",,,,,Brittle cornea syndrome,TRUE,FALSE,Active +GARD:10190,Active,Orphanet,ORPHA:268994,Subtype of disorder,[Clinical subtype],Isolated focal cortical dysplasia type II,"[Cortical dysplasia, Taylor type, FCD type II, Isolated focal cortical dysplasia type 2]",,[607341],,,,,Focal cortical dysplasia of Taylor,TRUE,FALSE,Active +GARD:10191,Legacy,GARD,,,,,,,,,,,,Status epilepticus,TRUE,FALSE,Active +GARD:10192,Legacy,GARD,,,,,,,,,,,,True thymic hyperplasia,TRUE,FALSE,Active +GARD:10193,Active,Orphanet,ORPHA:86884,Disorder,[Disease],Subcutaneous panniculitis-like T-cell lymphoma,"[SPTCL, Subcutaneous panniculitic T-cell lymphoma]",Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.,[618398],,,,,Subcutaneous panniculitis-like T-cell lymphoma,TRUE,FALSE,Active +GARD:10194,Legacy,GARD,,,,,,,,,,,,"Acromegaloid features, overgrowth, cleft palate and hernia",TRUE,FALSE,Active +GARD:10195,Legacy,GARD,,,,,,,,,,,,"Faciomandibular myoclonus, nocturnal",TRUE,FALSE,Active +GARD:10196,Legacy,GARD,,,,,,,,,,,,Mesenteric artery ischemia,TRUE,FALSE,Retired +GARD:10197,Legacy,GARD,,,,,,,,,,,,Selective IgA deficiency,FALSE,FALSE,Active +GARD:10198,Legacy,GARD,,,,,,,,,,,,Immunoglobulin A deficiency 2,TRUE,FALSE,Active +GARD:10199,Active,Orphanet,ORPHA:98890,Disorder,[Disease],Early-onset X-linked optic atrophy,"[Non-Leber type optic atrophy with early-onset, OPA2, Optic atrophy type 2]","Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.",[311050],,,,,Optic atrophy 2,TRUE,FALSE,Active +GARD:102,Active,Orphanet,ORPHA:2671,Disorder,[Malformation syndrome],Neu-Laxova syndrome,,"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.","[256520, 616038]",,,,,Neu Laxova syndrome,TRUE,FALSE,Active +GARD:10200,Active,Orphanet+OMIM,OMIM:258500,Subtype of disorder,[Disease subtype],Optic atrophy 6,,"For a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[258500],[98676],[Autosomal recessive isolated optic atrophy],[16860],,Optic atrophy 6,TRUE,FALSE,Active +GARD:10201,Active,Orphanet+OMIM,OMIM:610708,Subtype of disorder,[Disease subtype],Optic atrophy 5,,"OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by {2:Gerber et al., 2017}).\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[610708],[98673],"[Autosomal dominant optic atrophy, classic form]",[9890],,Optic atrophy 5,TRUE,FALSE,Active +GARD:10202,Active,Orphanet,ORPHA:1001,Disorder,[Malformation syndrome],2q37 microdeletion syndrome,"[Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability syndrome, Del(2)(q37), Deletion 2q37, Monosomy 2q37qter]","A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.",[600430],,,,,2q37 deletion syndrome,TRUE,FALSE,Active +GARD:10203,Active,Orphanet,ORPHA:67036,Disorder,[Disease],Autosomal dominant optic atrophy and cataract,"[Autosomal dominant optic atrophy type 3, OPA3, autosomal dominant]","A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).",[165300],,,,,Autosomal dominant optic atrophy and cataract,TRUE,FALSE,Active +GARD:10204,Active,Orphanet+OMIM,OMIM:615983,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 5,,"BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by {5:Scheidecker et al., 2015}). Patients described by {6:Young et al. (1999)} and {4:Moore et al. (2005)} with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% ({3:Li et al., 2004}) and 0.40% ({7:Zaghloul and Katsanis, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615983],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 5,TRUE,FALSE,Active +GARD:10205,Active,Orphanet+OMIM,OMIM:605231,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 6,,"BBS6 is an autosomal recessive disorder with cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation ({5:Slavotinek et al., 2000}). {6:Zaghloul and Katsanis (2009)} estimated that mutations in the MKKS gene account for 5.8% of the total BBS mutational load.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[605231],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 6,TRUE,FALSE,Active +GARD:10206,Active,Orphanet+OMIM,OMIM:615984,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 7,,"Bardet-Biedl syndrome-7 (BBS7) is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism ({2:Harville et al., 2010}). {4:Zaghloul and Katsanis (2009)} estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615984],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 7,TRUE,FALSE,Active +GARD:10207,Active,Orphanet+OMIM,OMIM:615985,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 8,,"BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay ({1:Ansley et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615985],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 8,TRUE,FALSE,Active +GARD:10208,Active,Orphanet+OMIM,OMIM:615986,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 9,,"BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation ({1:Abu-Safieh et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615986],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 9,TRUE,FALSE,Active +GARD:10209,Active,Orphanet+OMIM,OMIM:615987,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 10,,"BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia ({5:Stoetzel et al., 2006}). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients ({5:Stoetzel et al., 2006}; {6:Zaghloul and Katsanis, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615987],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 10,TRUE,FALSE,Active +GARD:10210,Active,Orphanet+OMIM,OMIM:615988,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 11,,"BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities ({1:Chiang et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615988],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 11,TRUE,FALSE,Active +GARD:10211,Active,Orphanet+OMIM,OMIM:615989,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 12,,"BBS12 is a clinically pleiotropic autosomal recessive ciliopathy. The patients with BBS12 studied by {5:Stoetzel et al. (2007)} and {3:Harville et al. (2010)} met the diagnostic criteria of {1:Beales et al. (1999)}, which required the presence of either 4 primary features, including rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism (in males), and/or renal anomalies; or 3 primary plus 2 secondary features (e.g., developmental delay, ataxia, cataracts).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615989],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 12,TRUE,FALSE,Active +GARD:10212,Active,Orphanet+OMIM,OMIM:269700,Subtype of disorder,[Disease subtype],"Lipodystrophy, congenital generalized, type 2","[lipoatrophic diabetes, congenital, brunzell syndrome, bscl2-related, seip syndrome, lipodystrophy, berardinelli-seip congenital, type 2, Berardinelli-seip congenital lipodystrophy, type 2, berardinelli syndrome, lipodystrophy, total, and acromegaloid gigantism]","Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes ({5:Garg, 2004}).\n\nFor a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 ({608594}).",[269700],[528],[Congenital generalized lipodystrophy],[13388],,Congenital generalized lipodystrophy type 2,TRUE,FALSE,Active +GARD:10213,Active,Orphanet,ORPHA:572361,Subtype of disorder,[Clinical subtype],Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,"[BPES type 2, Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure]",,[110100],,,,,"Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2",TRUE,FALSE,Retired +GARD:10214,Active,Orphanet,ORPHA:247598,Disorder,[Disease],Neonatal intrahepatic cholestasis due to citrin deficiency,"[NICCD, Neonatal intrahepatic cholestasis caused by citrin deficiency]","A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.",[605814],,,,,Neonatal intrahepatic cholestasis caused by citrin deficiency,TRUE,FALSE,Active +GARD:10215,Active,Orphanet,ORPHA:247585,Disorder,[Disease],Citrullinemia type II,"[Adult-onset citrin deficiency, Adult-onset citrullinemia type 2, Adult-onset citrullinemia type II, CTLN2, Citrullinemia type 2]","A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.",[603471],,,,,Citrullinemia type II,TRUE,FALSE,Active +GARD:10216,Active,Orphanet,ORPHA:443162,Disorder,[Malformation syndrome],NDE1-related microhydranencephaly,[MHAC],"NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.",[605013],,,,,Microhydranencephaly,TRUE,FALSE,Active +GARD:10217,Legacy,GARD,,,,,,,,,,,,Spondyloepiphyseal dysplasia Omani type,TRUE,FALSE,Retired +GARD:10218,Legacy,GARD,,,,,,,,,,,,"Microphthalmia, isolated, with corectopia",TRUE,FALSE,Retired +GARD:10219,Legacy,GARD,,,,,,,,,,,,Tonoki syndrome,TRUE,FALSE,Active +GARD:10220,Active,Orphanet,ORPHA:137678,Disorder,[Disease],Spondyloepiphyseal dysplasia with metatarsal shortening,"[Czech dysplasia, metatarsal type, SED with metatarsal shortening]","A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.",[609162],,,,,Czech dysplasia metatarsal type,TRUE,FALSE,Active +GARD:10221,Active,Orphanet,ORPHA:93111,Subtype of disorder,[Clinical subtype],HNF1B-related autosomal dominant tubulointerstitial kidney disease,"[ADTKD-HNF1B, HNF1B-MODY, HNF1B-related nephropathy, MODY5, Maturity-onset diabetes of the young type 5, RCAD syndrome, Renal cysts and diabetes syndrome, Renal dysfunction-early-onset diabetes syndrome]","A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in or whole gene deletions of HNF1B, which is characterized by chronic tubulo-interstitial nephritis, that manifests with nonsignificant urinalysis and slowly progressive renal failure. It can be associated with cystic kidney dysplasia, early onset diabetes and extrarenal manifestations.","[137920, 616026]",,,,,"Maturity-onset diabetes of the young, type 5",TRUE,FALSE,Active +GARD:10222,Legacy,GARD,,,,,,,,,,,,"Cataracts, ataxia, short stature, and mental retardation",TRUE,FALSE,Retired +GARD:10223,Active,Orphanet,ORPHA:79159,Disorder,[Disease],Isobutyryl-CoA dehydrogenase deficiency,[Isobutyric aciduria],"Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).",[611283],,,,,Isobutyryl-CoA dehydrogenase deficiency,TRUE,FALSE,Active +GARD:10224,Active,Orphanet,ORPHA:73263,Disorder,[Disease],Zygomycosis,[Mucormycosis],"A rare mycosis caused by ubiquitous, opportunistic fungi of the order Mucorales, characterized by tissue infarction and necrosis due to invasion of the vasculature by hyphae. The spectrum of clinical manifestations depends on the route of infection and includes rhinocerebral, pulmonary, cutaneous, gastrointestinal, renal, and disseminated forms. The disease is usually rapidly progressive and associated with high mortality.",,,,,,Mucormycosis,TRUE,FALSE,Active +GARD:10225,Active,Orphanet,ORPHA:247709,Subtype of disorder,[Clinical subtype],Multiple endocrine neoplasia type 2B,"[MEN2B, Multiple endocrine neoplasia type 3, Wagenmann-Froboese syndrome]","A rare form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by aggressive medullary thyroid carcinoma in association with other endocrine tumors, notably pheochromocytoma (one or both adrenal glands can be affected). Onset is typically in infancy or childhood and patients often have a typical facies (mucosal neuromas of the lips and tongue, and bumpy lips), ophthalmologic abnormalities (alacrima in infancy, thickened and everted eyelids, mild ptosis, and prominent corneal nerves), skeletal anomalies (marfanoid body habitus, narrow long facies, pes cavus, pectus excavatum, high-arched palate, scoliosis, hyperextensible joints and slipped capital femoral epiphyses), and a generalized ganglioneuromatosis throughout the aerodigestive tract. Chronic constipation, abdominal distension, diarrhea, or megacolon at birth are often the initial manifestations.",[162300],,,,,Multiple endocrine neoplasia type 2B,TRUE,FALSE,Active +GARD:10226,Active,Orphanet,ORPHA:263508,Disorder,[Disease],COG1-CDG,"[CDG syndrome type IIg, CDG-IIg, CDG2G, Carbohydrate deficient glycoprotein syndrome type IIg, Congenital disorder of glycosylation type 2g, Congenital disorder of glycosylation type IIg]","COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.",[611209],,,,,COG1-CDG (CDG-IIg),TRUE,FALSE,Active +GARD:10227,Legacy,GARD,,,,,,,,,,,,"Cataract, posterior polar, 3",TRUE,FALSE,Active +GARD:10228,Legacy,GARD,,,,,,,,,,,,"Cataract, posterior polar, 4",TRUE,FALSE,Active +GARD:10229,Active,Orphanet,ORPHA:266,Disorder,[Disease],Autosomal dominant limb-girdle muscular dystrophy type 1A,"[LGMD1A, Limb-girdle muscular dystrophy due to myotilin deficiency]","A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.",[609200],,,,,Limb-girdle muscular dystrophy type 1A,TRUE,FALSE,Active +GARD:1023,Legacy,GARD,,,,,,,,,,,,Bronchiectasis oligospermia,TRUE,FALSE,Active +GARD:10230,Active,Orphanet+OMIM,OMIM:181350,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 2, autosomal dominant","[emery-dreifuss muscular dystrophy, autosomal dominant, muscular dystrophy, limb-girdle, type 1b, formerly, cardiomyopathy, dilated, with quadriceps myopathy, scapuloilioperoneal atrophy with cardiopathy, hauptmann-thannhauser muscular dystrophy, Emd2, muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant, muscular dystrophy, proximal, type 1b, formerly]","EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1; {310300}) is an X-linked disorder caused by mutation in the emerin gene (EMD; {300384}) on Xq28 ({7:Emery, 1989}).\n\nFor a discussion of genetic heterogeneity of EDMD, see {310300}.",[181350],[98853],[Autosomal dominant Emery-Dreifuss muscular dystrophy],[16865],,Limb-girdle muscular dystrophy type 1B,TRUE,FALSE,Active +GARD:10232,Legacy,GARD,,,,,,,,,,,,Crohn's disease,FALSE,FALSE,Active +GARD:10234,Legacy,GARD,,,,,,,,,,,,"Cataract, posterior polar, 1",TRUE,FALSE,Active +GARD:10236,Legacy,GARD,,,,,,,,,,,,"Cataract, posterior polar, 5",TRUE,FALSE,Active +GARD:10237,Active,Orphanet,ORPHA:65284,Disorder,[Disease],Biotin-thiamine-responsive basal ganglia disease,"[BBGD, BTBGD, Biotin-responsive basal ganglia disease]","A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine.",[607483],,,,,Biotin-thiamine-responsive basal ganglia disease,TRUE,FALSE,Active +GARD:10238,Active,Orphanet,ORPHA:275534,Disorder,[Disease],Myostatin-related muscle hypertrophy,,,[614160],,,,,Myostatin-related muscle hypertrophy,TRUE,FALSE,Active +GARD:10239,Active,Orphanet,ORPHA:168569,Disorder,[Malformation syndrome],H syndrome,,"A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.",[602782],,,,,Histiocytosis-lymphadenopathy plus syndrome,TRUE,FALSE,Active +GARD:10240,Legacy,GARD,,,,,,,,,,,,CoQ-responsive OXPHOS deficiency,TRUE,FALSE,Active +GARD:10241,Active,Orphanet+OMIM,OMIM:610629,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 3,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[610629],[124],[Blackfan-Diamond anemia],[6274],,Diamond-Blackfan anemia 3,TRUE,FALSE,Active +GARD:10244,Active,Orphanet,ORPHA:535453,Subtype of disorder,[Etiological subtype],Familial lipase maturation factor 1 deficiency,[Familial LMF1 deficiency],,[246650],,,,,Lipase deficiency combined,TRUE,FALSE,Active +GARD:10246,Legacy,GARD,,,,,,,,,,,,Asthma,FALSE,FALSE,Active +GARD:10247,Active,Orphanet,ORPHA:870,Disorder,[Malformation syndrome],Down syndrome,[Trisomy 21],"A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects.",[190685],,,,,Down syndrome,FALSE,FALSE,Active +GARD:10248,Active,Orphanet,ORPHA:180772,Group of disorders,[Category],Rare disease with autism,,,,,,,,Autism spectrum disorder,FALSE,FALSE,Active +GARD:10249,Legacy,GARD,,,,,,,,,,,,Bipolar disorder,FALSE,FALSE,Active +GARD:1025,Active,Orphanet,ORPHA:2357,Disorder,[Morphological anomaly],Bronchogenic cyst,,Congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.,,,,,,Bronchogenic cyst,TRUE,FALSE,Active +GARD:10251,Legacy,GARD,,,,,,,,,,,,Parkinson disease,FALSE,FALSE,Active +GARD:10252,Active,Orphanet,ORPHA:289390,Disorder,[Disease],Primary Sjögren syndrome,[Primary Sjögren-Gougerot syndrome],"A rare systemic autoimmune disease characterized by exocrine gland dysfunction, resulting predominately in keratoconjunctivitis sicca and xerostomia, but also affecting exocrine glands of the skin, as well as respiratory, urogenital, and digestive tract. Extraglandular manifestations include arthritis, interstitial lung disease, renal disease, and peripheral neuropathy. The disease is accompanied by a substantially increased risk to develop B-cell non-Hodgkin lymphoma, especially MALT (mucosa-associated lymphoid tissue) lymphoma.",[270150],,,,,Sjogren syndrome,FALSE,FALSE,Active +GARD:10253,Legacy,GARD,,,,,,,,,,,,Lupus,FALSE,FALSE,Active +GARD:10254,Legacy,GARD,,,,,,,,,,,,Alzheimer disease,FALSE,FALSE,Active +GARD:10255,Legacy,GARD,,,,,,,,,,,,Multiple sclerosis,FALSE,FALSE,Active +GARD:10256,Legacy,GARD,,,,,,,,,,,,Irritable bowel syndrome,FALSE,FALSE,Draft +GARD:10257,Legacy,GARD,,,,,,,,,,,,Monogenic diabetes,FALSE,FALSE,Active +GARD:1026,Legacy,GARD,,,,,,,,,,,,Amyloidosis bronchopulmonary,TRUE,FALSE,Active +GARD:10260,Legacy,GARD,,,,,,,,,,,,Macular degeneration,FALSE,FALSE,Active +GARD:10261,Legacy,GARD,,,,,,,,,,,,Obesity,FALSE,FALSE,Draft +GARD:10262,Legacy,GARD,,,,,,,,,,,,Psoriasis,FALSE,FALSE,Active +GARD:10263,Active,Orphanet,ORPHA:99927,Disorder,[Disease],Hydatidiform mole,[Molar pregnancy],"A hydatidiform mole is a benign gestational trophoblastic disease developing during pregnancy. Resulting from an abnormal fertilization characterized by trophoblastic proliferation, normal embryo development is rendered impossible. Hydatidiform moles can be either complete or partial.","[614293, 231090]",,,,,Hydatidiform mole,TRUE,FALSE,Active +GARD:10264,Legacy,GARD,,,,,,,,,,,,Spinal meningioma,TRUE,FALSE,Active +GARD:10265,Legacy,GARD,,,,,,,,,,,,Pityriasis lichenoides,TRUE,FALSE,Active +GARD:10266,Active,Orphanet,ORPHA:85458,Disorder,[Disease],Hereditary cerebral hemorrhage with amyloidosis,[HCHWA],"Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.","[605714, 105150]",,,,,Hereditary cerebral hemorrhage with amyloidosis,TRUE,FALSE,Active +GARD:10267,Active,Orphanet,ORPHA:309147,Disorder,[Disease],Hyper-beta-alaninemia,[Hyperalaninemia],"A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise, seizures, respiratory distress, lethargy and encephalopathy. Urinary excretion of beta-alanine, beta-amino-isobutyric acid, taurine, and gamma-amino-butyric acid is also elevated. There have been no further descriptions in the literature since 1994.",[237400],,,,,Hyperbetaalaninemia,TRUE,FALSE,Active +GARD:10268,Legacy,GARD,,,,,,,,,,,,Diabetes mellitus type 1,FALSE,FALSE,Active +GARD:10269,Legacy,GARD,,,,,,,,,,,,"Pancreatitis, pediatric",TRUE,FALSE,Active +GARD:10270,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 3",TRUE,FALSE,Active +GARD:10271,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 4",TRUE,FALSE,Active +GARD:10272,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 5",TRUE,FALSE,Active +GARD:10273,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 6",TRUE,FALSE,Active +GARD:10276,Legacy,GARD,,,,,,,,,,,,Windblown hand,TRUE,FALSE,Active +GARD:10277,Active,Orphanet,ORPHA:2952,Disorder,[Malformation syndrome],"Adducted thumbs-arthrogryposis syndrome, Christian type",,"A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ('myopathic' stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life; see this term) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.",[201550],,,,,"Clasped thumbs, congenital",TRUE,FALSE,Active +GARD:10278,Legacy,GARD,,,,,,,,,,,,Aquagenic pruritus,TRUE,FALSE,Active +GARD:10279,Legacy,GARD,,,,,,,,,,,,Fasting hypoglycemia,FALSE,FALSE,Active +GARD:10280,Active,Orphanet,ORPHA:2345,Disorder,[Malformation syndrome],Isolated Klippel-Feil syndrome,"[Congenital cervical vertebral fusion, Congenital fused cervical segments, Klippel-Feil malformation, Klippel-Feil sequence]",Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.,"[613702, 118100, 214300]",,,,,Klippel Feil syndrome,TRUE,FALSE,Active +GARD:10281,Active,Orphanet+OMIM,OMIM:180500,Subtype of disorder,[Malformation syndrome subtype],"Axenfeld-rieger syndrome, type 1","[rgs, Rieger syndrome, type 1, rieg]","Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals ({12:Fitch and Kaback, 1978}). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia ({1:Alkemade, 1969}).\n\n<Subhead> Genetic Heterogeneity of Axenfeld-Rieger Syndrome\n\nLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2; {601499}). A third form of Axenfeld-Rieger syndrome (RIEG3; {602482}) is caused by mutation in the FOXC1 gene ({601090}) on chromosome 6p25.\n\nSee {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.",[180500],[782],[Axenfeld-Rieger syndrome],[5701],,Axenfeld-Rieger syndrome type 1,TRUE,FALSE,Retired +GARD:10282,Legacy,GARD,,,,,,,,,,,,Lin-Gettig syndrome,TRUE,FALSE,Active +GARD:10283,Active,Orphanet,ORPHA:35107,Disorder,[Disease],Desmosterolosis,,"Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.",[602398],,,,,Desmosterolosis,TRUE,FALSE,Active +GARD:10284,Legacy,GARD,,,,,,,,,,,,Acanthocytosis,TRUE,FALSE,Retired +GARD:10285,Legacy,GARD,,,,,,,,,,,,Periventricular leukomalacia,TRUE,FALSE,Active +GARD:10286,Legacy,GARD,,,,,,,,,,,,Cluster headache,FALSE,FALSE,Active +GARD:10287,Active,Orphanet,ORPHA:1945,Disorder,[Disease],Rolandic epilepsy,"[BECRS, BECTS, BRE, Benign epilepsy of childhood with centrotemporal spikes, Benign familial epilepsy of childhood with rolandic spikes, Benign rolandic epilepsy, Centrotemporal epilepsy]","Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.","[117100, 245570]",,,,,Benign rolandic epilepsy (BRE),TRUE,FALSE,Active +GARD:10288,Active,Orphanet,ORPHA:98908,Disorder,[Disease],Neutral lipid storage myopathy,"[NLSDM, Neutral lipid storage disease with myopathy without ichthyosis]","A form of neutral lipid storage disease characterized by adult onset of slowly progressive, typically proximal, muscular weakness of the upper and lower limbs, associated with elevated serum creatine kinase. Many patients develop cardiomyopathy later in the disease course. Additional, variable manifestations include hepatomegaly, diabetes mellitus, and hypertriglyceridemia, among others. Diagnostic hallmarks are triacylglycerol-containing lipid vacuoles in leukocytes in peripheral blood smears (so-called Jordans' anomaly), as well as massive accumulation of lipid droplets in muscle tissue.",[610717],,,,,Neutral lipid storage disease with myopathy,TRUE,FALSE,Active +GARD:10289,Legacy,GARD,,,,,,,,,,,,Krabbe disease atypical due to Saposin A deficiency,TRUE,FALSE,Active +GARD:1029,Active,Orphanet,ORPHA:2771,Disorder,[Malformation syndrome],Bruck syndrome,[Osteogenesis imperfecta-congenital joint contractures syndrome],Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.,"[609220, 259450]",,,,,Bruck syndrome 1,TRUE,FALSE,Active +GARD:10290,Active,Orphanet,ORPHA:166277,Disorder,[Malformation syndrome],Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,[Suarez-Stickler syndrome],"A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.",[604922],,,,,Cortical defects wormian bones and dentinogenesis imperfecta,TRUE,FALSE,Active +GARD:10291,Active,Orphanet,ORPHA:2612,Disorder,[Disease],Linear nevus sebaceus syndrome,"[Nevus sebaceus of Jadassohn, Nevus sebaceus syndrome, Organoid nevus syndrome, Schimmelpenning syndrome, Solomon syndrome]","A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system.",[163200],,,,,Linear nevus sebaceous syndrome,TRUE,FALSE,Active +GARD:10292,Legacy,GARD,,,,,,,,,,,,"Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities",TRUE,FALSE,Retired +GARD:10293,Legacy,GARD,,,,,,,,,,,,Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation,TRUE,FALSE,Retired +GARD:10294,Active,Orphanet,ORPHA:139485,Disorder,[Disease],Autosomal recessive ataxia due to ubiquinone deficiency,"[ARCA2, Autosomal recessive ataxia due to coenzyme Q10 deficiency, Autosomal recessive cerebellar ataxia type 2, Autosomal recessive spinocerebellar ataxia type 9, SCAR9]",This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.,"[619028, 612016]",,,,,Autosomal recessive spinocerebellar ataxia 9,TRUE,FALSE,Active +GARD:10295,Active,Orphanet,ORPHA:140952,Disorder,[Malformation syndrome],Syndactyly-telecanthus-anogenital and renal malformations syndrome,[STAR syndrome],"A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.",[300707],,,,,STAR syndrome,TRUE,FALSE,Active +GARD:10296,Active,Orphanet,ORPHA:199318,Disorder,[Malformation syndrome],15q13.3 microdeletion syndrome,"[Del(15)(q13.3), Monosomy 15q13.3]",15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.,[612001],,,,,15q13.3 microdeletion syndrome,TRUE,FALSE,Active +GARD:10297,Active,Orphanet,ORPHA:1802,Disorder,[Malformation syndrome],Ghosal hematodiaphyseal dysplasia,"[Diaphyseal dysplasia-anemia syndrome, Ghosal syndrome]",Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.,[231095],,,,,Ghosal hematodiaphyseal dysplasia syndrome,TRUE,FALSE,Active +GARD:10298,Legacy,GARD,,,,,,,,,,,,"Anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies",TRUE,FALSE,Retired +GARD:10299,Active,Orphanet,ORPHA:567,Disorder,[Malformation syndrome],22q11.2 deletion syndrome,"[22q11DS, CATCH 22, Cayler cardiofacial syndrome, Conotruncal anomaly face syndrome, DiGeorge sequence, DiGeorge syndrome, Microdeletion 22q11.2, Monosomy 22q11, Sedlackova syndrome, Shprintzen syndrome, Takao syndrome, Velocardiofacial syndrome]","A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.","[188400, 192430]",,,,,22q11.2 deletion syndrome,TRUE,FALSE,Active +GARD:1030,Active,Orphanet,ORPHA:130,Disorder,[Disease],Brugada syndrome,"[Idiopathic ventricular fibrillation, Brugada type]","A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities.","[611876, 616399, 601144, 613119, 613123, 611875, 612838, 611777, 613120]",,,,,Brugada syndrome,TRUE,FALSE,Active +GARD:10300,Active,Orphanet,ORPHA:139450,Disorder,[Malformation syndrome],Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,[Balikova-Vermeesch syndrome],"This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.",[611863],,,,,Microtia eye coloboma and imperforation of the nasolacrimal duct,TRUE,FALSE,Active +GARD:10301,Active,Orphanet,ORPHA:139455,Disorder,[Disease],Autosomal recessive bestrophinopathy,"[Retinopathy, Burgess-Black type]","A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).",[611809],,,,,Autosomal recessive bestrophinopathy,TRUE,FALSE,Active +GARD:10302,Active,Orphanet,ORPHA:139466,Disorder,[Malformation syndrome],SERKAL syndrome,"[Sex reversion-kidneys, adrenal and lung dysgenesis syndrome]","SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.",[611812],,,,,SERKAL syndrome,TRUE,FALSE,Active +GARD:10303,Active,Orphanet,ORPHA:137911,Disorder,[Malformation syndrome],Autism-facial port-wine stain syndrome,,A rare pervasive developmental disorder characterized by the presence of a unilateral angioma on the face and autistic developmental problems including language delay and atypical social interactions. The disease may initially resemble Sturge-Weber syndrome.,,,,,,Autism with port-wine stain,TRUE,FALSE,Active +GARD:10304,Active,Orphanet,ORPHA:251076,Disorder,[Malformation syndrome],8p23.1 duplication syndrome,"[Dup(8)(p23.1p23.1), Trisomy 8p23.1]","8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).",,,,,,8p23.1 duplication syndrome,TRUE,FALSE,Active +GARD:10305,Legacy,GARD,,,,,,,,,,,,"Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia",TRUE,FALSE,Retired +GARD:10306,Active,Orphanet,ORPHA:93606,Disorder,[Disease],Nephrogenic syndrome of inappropriate antidiuresis,[NSIAD],"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.",[300539],,,,,Syndrome of inappropriate antidiuretic hormone,FALSE,FALSE,Active +GARD:10307,Active,Orphanet,ORPHA:137,Group of disorders,[Category],Congenital disorder of glycosylation,"[CDG, Carbohydrate deficient glycoprotein syndrome]","A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.",,,,,,Congenital disorders of glycosylation,TRUE,FALSE,Active +GARD:10308,Legacy,GARD,,,,,,,,,,,,Scleroderma,FALSE,FALSE,Active +GARD:10309,Legacy,GARD,,,,,,,,,,,,Mannose-binding lectin protein deficiency,FALSE,FALSE,Active +GARD:10310,Legacy,GARD,,,,,,,,,,,,Autoimmune atrophic gastritis,FALSE,FALSE,Active +GARD:10311,Active,Orphanet,ORPHA:70592,Disorder,[Disease],Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency,[IRAK4 deficiency],Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.,[607676],,,,,IRAK-4 deficiency,TRUE,FALSE,Active +GARD:10312,Active,Orphanet,ORPHA:85146,Disorder,[Disease],"Neurogenic scapuloperoneal syndrome, Kaeser type","[Kaeser syndrome, Stark-Kaeser syndrome]","A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.",[181400],,,,,"Scapuloperoneal syndrome, neurogenic, Kaeser type",TRUE,FALSE,Active +GARD:10313,Active,Orphanet,ORPHA:437572,Disorder,[Disease],MYH7-related late-onset scapuloperoneal muscular dystrophy,"[MYH7-related late-onset SPMD, MYH7-related late-onset scapuloperoneal syndrome]",,[181430],,,,,MYH7-related scapuloperoneal myopathy,TRUE,FALSE,Active +GARD:10314,Active,Orphanet,ORPHA:431255,Disorder,[Disease],Scapuloperoneal spinal muscular atrophy,"[Neurogenic scapuloperoneal amyotrophy, New England type, SPSMA, Scapuloperoneal neuronopathy]","A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities.",[181405],,,,,"Amyotrophy, neurogenic scapuloperoneal, New England type",TRUE,FALSE,Active +GARD:10316,Active,Orphanet,ORPHA:98905,Subtype of disorder,[Clinical subtype],Congenital multicore myopathy with external ophthalmoplegia,,,[255320],,,,,Minicore myopathy with external ophthalmoplegia,TRUE,FALSE,Active +GARD:10317,Active,Orphanet,ORPHA:280671,Disorder,[Disease],Megaconial congenital muscular dystrophy,"[Congenital megaconial myopathy, Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect, Congenital muscular dystrophy with mitochondrial structural abnormalities]","A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.",[602541],,,,,"Muscular dystrophy, congenital, megaconial type",TRUE,FALSE,Active +GARD:10318,Legacy,GARD,,,,,,,,,,,,Pleoconial myopathy with salt craving,TRUE,FALSE,Active +GARD:10319,Active,Orphanet,ORPHA:2964,Disorder,[Malformation syndrome],Autosomal dominant prognathism,,"A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.",[176700],,,,,Prognathism mandibular,TRUE,FALSE,Active +GARD:1032,Legacy,GARD,,,,,,,,,,,,Brunoni syndrome,TRUE,FALSE,Retired +GARD:10320,Active,Orphanet+OMIM,OMIM:608471,Subtype of disorder,[Disease subtype],"Corneal dystrophy, lattice type iiia","[Lattice corneal dystrophy, type iiia]","Lattice corneal dystrophy type IIIA (CDL3A) is an autosomal dominant condition characterized by amyloid accumulation in the corneal stroma. It is clinically manifest as the presence of thick ropy lattice lines in the cornea. Recurrent erosions are common. Onset occurs between 70 and 90 years of age ({3:Yamamoto et al., 1998}).",[608471],[98964],[Lattice corneal dystrophy type I],[9678],,Lattice corneal dystrophy type 3A,TRUE,FALSE,Active +GARD:10321,Active,Orphanet,ORPHA:67046,Disorder,[Disease],3-methylglutaconic aciduria type 1,"[3-methylglutaconyl-CoA hydratase deficiency, 3MG-CoA hydratase deficiency, MGA1]","3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.",[250950],,,,,3-methylglutaconyl-CoA hydratase deficiency (AUH defect),TRUE,FALSE,Active +GARD:10322,Active,Orphanet,ORPHA:79157,Disorder,[Disease],2-methylbutyryl-CoA dehydrogenase deficiency,"[2-methylbutyric aciduria, Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency, SBCAD deficiency, Short/branched-chain acyl-coA dehydrogenase deficiency]","A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.",[610006],,,,,2-methylbutyryl-CoA dehydrogenase deficiency,TRUE,FALSE,Active +GARD:10323,Active,Orphanet,ORPHA:35704,Disorder,[Disease],L-Arginine:glycine amidinotransferase deficiency,[AGAT deficiency],"L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.",[612718],,,,,L-arginine:glycine amidinotransferase deficiency,TRUE,FALSE,Active +GARD:10324,Active,Orphanet,ORPHA:79253,Subtype of disorder,[Clinical subtype],Mild phenylketonuria,"[Mild PKU, Variant PKU, Variant phenylketonuria, mPKU]","A mild to moderate form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by blood phenylalanine concentrations of 600-1,200 micromol/L and manifests with reduced cognitive function and behavioral and developmental disorders. Dietary phenylalanine tolerance is 400-600 mg/day.",,,,,,Mild phenylketonuria,TRUE,FALSE,Active +GARD:10325,Legacy,GARD,,,,,,,,,,,,"Carnitine palmitoyltransferase I deficiency , muscle",TRUE,FALSE,Retired +GARD:10326,Legacy,GARD,,,,,,,,,,,,Congenital toxoplasmosis,FALSE,FALSE,Active +GARD:10327,Active,Orphanet,ORPHA:431361,Disorder,[Disease],Progressive encephalopathy with leukodystrophy due to DECR deficiency,"[2,4-dienoyl-CoA reductase deficiency, DECR deficiency with hyperlysinemia]","Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.",[616034],,,,,"2,4-Dienoyl-CoA reductase deficiency",TRUE,FALSE,Active +GARD:10328,Legacy,GARD,,,,,,,,,,,,Congenital human immunodeficiency virus,TRUE,FALSE,Active +GARD:10329,Legacy,GARD,,,,,,,,,,,,Medium-chain 3-ketoacyl-coa thiolase deficiency,TRUE,FALSE,Active +GARD:1033,Active,Orphanet,ORPHA:47,Subtype of disorder,[Clinical subtype],X-linked agammaglobulinemia,"[BTK-deficiency, Bruton type agammaglobulinemia]","A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy.","[300310, 300755]",,,,,X-linked agammaglobulinemia,TRUE,FALSE,Active +GARD:10330,Legacy,GARD,,,,,,,,,,,,Pontine hemorrhage,FALSE,FALSE,Active +GARD:10332,Active,Orphanet,ORPHA:69723,Disorder,[Disease],Tyrosinemia type 3,"[Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency, Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency, Tyrosinemia due to HPD deficiency, Tyrosinemia type III]","Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.",[276710],,,,,Tyrosinemia type 3,TRUE,FALSE,Active +GARD:10333,Active,Orphanet,ORPHA:251359,Disorder,[Disease],Sickle cell-beta-thalassemia disease syndrome,[HbS-beta-thalassemia syndrome],"A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly.",,,,,,Sickle beta thalassemia,TRUE,FALSE,Active +GARD:10334,Legacy,GARD,,,,,,,,,,,,Diffuse gastric cancer,TRUE,FALSE,Active +GARD:10335,Active,Orphanet,ORPHA:579,Disorder,[Disease],Mucopolysaccharidosis type 1,"[Alpha-L-iduronidase deficiency, MPS1, MPSI, Mucopolysaccharidosis type I]","Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.","[607016, 607014, 607015]",,,,,Mucopolysaccharidosis type I,TRUE,FALSE,Active +GARD:10336,Legacy,GARD,,,,,,,,,,,,Cytochrome p450 2D6 variant,FALSE,FALSE,Active +GARD:10339,Active,Orphanet,ORPHA:331206,Disorder,[Disease],Severe combined immunodeficiency due to complete RAG1/2 deficiency,[SCID due to complete RAG1/2 deficiency],"Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.",[601457],,,,,Severe combined immunodeficiency due to complete RAG1/2 deficiency,TRUE,FALSE,Active +GARD:1034,Legacy,GARD,,,,,,,,,,,,Bruyn Scheltens syndrome,TRUE,FALSE,Active +GARD:10340,Legacy,GARD,,,,,,,,,,,,Ménière's disease,FALSE,FALSE,Active +GARD:10341,Active,Orphanet,ORPHA:83473,Disorder,[Malformation syndrome],Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,[MPPH syndrome],"A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.","[615938, 603387, 615937]",,,,,Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome,TRUE,FALSE,Active +GARD:10342,Active,Orphanet,ORPHA:67048,Disorder,[Disease],3-methylglutaconic aciduria type 4,[MGA4],"3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).",[250951],,,,,Not otherwise specified 3-MGA-uria type,TRUE,FALSE,Active +GARD:10343,Legacy,GARD,,,,,,,,,,,,Charles Bonnet syndrome,TRUE,FALSE,Active +GARD:10344,Legacy,GARD,,,,,,,,,,,,3 methylglutaconic aciduria type V,TRUE,FALSE,Retired +GARD:10345,Legacy,GARD,,,,,,,,,,,,Dermal eccrine cylindroma,TRUE,FALSE,Active +GARD:10346,Active,Orphanet,ORPHA:100026,Subtype of disorder,[Clinical subtype],Gamma-heavy chain disease,"[Franklin disease, Gamma-HCD]",A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.,,,,,,Gamma heavy chain disease,TRUE,FALSE,Active +GARD:10347,Legacy,GARD,,,,,,,,,,,,Bizarre parosteal osteochondromatous proliferation,TRUE,FALSE,Active +GARD:10349,Legacy,GARD,,,,,,,,,,,,Lymphocytic hypophysitis,TRUE,FALSE,Active +GARD:10350,Legacy,GARD,,,,,,,,,,,,Acquired hemophilia,TRUE,FALSE,Active +GARD:10351,Active,Orphanet,ORPHA:98758,Disorder,[Disease],Spinocerebellar ataxia type 6,[SCA6],An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.,[183086],,,,,Spinocerebellar ataxia type 6,TRUE,FALSE,Active +GARD:10352,Active,Orphanet,ORPHA:71290,Disorder,[Disease],Familial platelet disorder with associated myeloid malignancy,"[FPD/AML, FPDMM, FPS/AML, Familial platelet disorder with predisposition to acute myelogenous leukemia, Familial platelet disorder with predisposition to myeloid malignancy, Familial platelet disorder with propensity to acute myeloid leukemia, Familial thrombocytopenia with propensity to acute myelogenous leukemia]","A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.","[601399, 616216]",,,,,Familial platelet disorder with associated myeloid malignancy,TRUE,FALSE,Active +GARD:10353,Active,Orphanet,ORPHA:738,Group of disorders,[Clinical group],Porphyria,,"Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.",,,,,,Porphyria,TRUE,FALSE,Active +GARD:10354,Active,Orphanet,ORPHA:496693,Disorder,[Malformation syndrome],Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,[Gershoni-Baruch syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period.",[609545],,,,,Gershoni-Baruch syndrome,TRUE,FALSE,Active +GARD:10355,Active,Orphanet,ORPHA:91498,Disorder,[Disease],Familial congenital palsy of trochlear nerve,,"Familial congenital palsy of trochlear nerve is a rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.",[136480],,,,,Familial congenital palsy of trochlear nerve,TRUE,FALSE,Active +GARD:10356,Legacy,GARD,,,,,,,,,,,,"Platelet disorder, familial, with associated myeloid malignancy",TRUE,FALSE,Retired +GARD:10357,Legacy,GARD,,,,,,,,,,,,Primary release disorder of platelets,TRUE,FALSE,Active +GARD:10358,Active,Orphanet,ORPHA:166108,Disorder,[Disease],"Intellectual disability, Birk-Barel type",[Intellectual disability-hypotonia-facial dysmorphism syndrome],"Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.",[612292],,,,,Birk-Barel syndrome,TRUE,FALSE,Active +GARD:10359,Active,Orphanet+OMIM,OMIM:168100,Subtype of disorder,[Disease subtype],"Paralysis agitans, juvenile, of hunt","[Parkinson disease, juvenile, of hunt]",,[168100],[171695],[Parkinsonian-pyramidal syndrome],[9175],,"Paralysis agitans, juvenile, of Hunt",TRUE,FALSE,Active +GARD:10360,Active,Orphanet,ORPHA:251038,Disorder,[Malformation syndrome],3q29 microduplication syndrome,[Trisomy 3q29],3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.,[611936],,,,,Chromosome 3q29 microduplication syndrome,TRUE,FALSE,Active +GARD:10361,Active,Orphanet+OMIM,OMIM:611875,Subtype of disorder,[Disease subtype],Brugada syndrome 3,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of the genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[611875],[130],[Brugada syndrome],[1030],,Brugada syndrome 3,TRUE,FALSE,Active +GARD:10362,Active,Orphanet+OMIM,OMIM:611876,Subtype of disorder,[Disease subtype],Brugada syndrome 4,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of the genetic heterogeneity in Brugada syndrome, see BRGDA1 ({601144}).",[611876],[130],[Brugada syndrome],[1030],,Brugada syndrome 4,TRUE,FALSE,Active +GARD:10363,Active,Orphanet,ORPHA:79153,Disorder,[Disease],Idiopathic trachyonychia,,"A rare isolated nail anomaly characterized by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur.",[161050],,,,,Twenty-nail dystrophy,TRUE,FALSE,Active +GARD:10364,Active,Orphanet+OMIM,OMIM:612347,Subtype of disorder,[Disease subtype],Jervell and lange-nielsen syndrome 2,,"The Jervell and Lange-Nielsen syndrome is an autosomal recessive syndrome of abnormal cardiac ventricular repolarization with prolonged QT interval and bilateral congenital deafness.\n\nFor a general description and a discussion of genetic heterogeneity of Jervell and Lange-Nielsen syndrome, see {220400}.",[612347],[90647],[Jervell and Lange-Nielsen syndrome],[3048],,Jervell and Lange-Nielsen syndrome 2,TRUE,FALSE,Retired +GARD:10365,Active,Orphanet,ORPHA:70594,Disorder,[Disease],Dopa-responsive dystonia due to sepiapterin reductase deficiency,"[Autosomal recessive sepiapterin reductase-deficient DRD, DRD due to SRD, SPR deficiency, Sepiapterin reductase deficiency]","Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.",[612716],,,,,Sepiapterin reductase deficiency,TRUE,FALSE,Active +GARD:10366,Active,Orphanet,ORPHA:3339,Disorder,[Malformation syndrome],Toriello-Lacassie-Droste syndrome,"[Aplasia cutis congenita-epibulbar dermoids syndrome, Oculoectodermal syndrome]",A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital.,[600268],,,,,Oculoectodermal syndrome,TRUE,FALSE,Active +GARD:10367,Active,Orphanet,ORPHA:140936,Disorder,[Malformation syndrome],Lelis syndrome,[Ectodermal dysplasia-acanthosis nigricans syndrome],Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.,[608290],,,,,Lelis syndrome,TRUE,FALSE,Active +GARD:10369,Legacy,GARD,,,,,,,,,,,,Carotidynia,FALSE,FALSE,Active +GARD:1037,Active,Orphanet,ORPHA:2285,Disorder,[Morphological anomaly],Primary basilar invagination,[Bull-Nixon syndrome],A rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. It can be asymptomatic or associated with severe neurological dysfunction.,[109500],,,,,Primary basilar impression,TRUE,FALSE,Active +GARD:10370,Legacy,GARD,,,,,,,,,,,,Rhabdomyomatous mesenchymal hamartoma,TRUE,FALSE,Active +GARD:10371,Legacy,GARD,,,,,,,,,,,,Immunoglobulin G deficiency,FALSE,FALSE,Active +GARD:10372,Active,Orphanet,ORPHA:103909,Disorder,[Disease],Trehalase deficiency,[Isolated trehalose intolerance],"A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere.",[612119],,,,,Trehalase deficiency,TRUE,FALSE,Active +GARD:10373,Active,Orphanet+OMIM,OMIM:612099,Subtype of disorder,[Clinical subtype],"Trichoepithelioma, multiple familial, 2",,"Multiple familial trichoepithelioma (MFT) is an autosomal dominant disorder of skin appendage tumors characterized by the appearance of trichoepitheliomas.\n\nSee also MFT1 ({601606}), which is caused by mutations in the CYLD gene ({605018}) on chromosome 16q12-q13.",[612099],[867],[Familial multiple trichoepithelioma],[10867],,Multiple familial trichoepithelioma 2,TRUE,FALSE,Retired +GARD:10374,Legacy,GARD,,,,,,,,,,,,Trachoma,TRUE,FALSE,Active +GARD:10375,Legacy,GARD,,,,,,,,,,,,Clostridium difficile,FALSE,FALSE,Active +GARD:10376,Active,Orphanet+OMIM,OMIM:600105,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 12,"[Retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium, rp with or without preserved paraarteriole retinal pigment epithelium, rp with or without pprpe]",,[600105],[791],[Retinitis pigmentosa],[5694],,Retinitis pigmentosa 12,TRUE,FALSE,Active +GARD:10377,Active,Orphanet+OMIM,OMIM:312612,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 6,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[312612],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 6,TRUE,FALSE,Active +GARD:10378,Active,Orphanet+OMIM,OMIM:612165,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 29,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[612165],[791],[Retinitis pigmentosa],[5694],,Retinitis pigmentosa 29,TRUE,FALSE,Active +GARD:10379,Active,Orphanet+OMIM,OMIM:612095,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 41,"[Retinal degeneration, autosomal recessive, prominin-related]",,[612095],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 41,TRUE,FALSE,Active +GARD:1038,Active,Orphanet,ORPHA:1867,Disorder,[Disease],"Hereditary bullous dystrophy, macular type",,"A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995.",[302000],,,,,Bullous dystrophy hereditary macular type,TRUE,FALSE,Active +GARD:10380,Active,Orphanet+OMIM,OMIM:312600,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 2,,"Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population ({7:Boughman et al., 1980}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[312600],[791],[Retinitis pigmentosa],[5694],,"Retinitis pigmentosa 2, X-linked",TRUE,FALSE,Retired +GARD:10381,Active,Orphanet+OMIM,OMIM:300029,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 3,"[cone-rod degeneration, x-linked, choroidoretinal degeneration with retinal reflex in heterozygous women, Retinitis pigmentosa 15]","X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors ({15:Demirci et al., 2002}). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to become legally blind by the age of 30 to 40 years. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe RP ({22:Jin et al., 2007}). Mutation in the RPGR gene is believed to account for approximately 70% of XLRP ({38:Vervoort et al., 2000}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[300029],[791],[Retinitis pigmentosa],[5694],,Retinitis pigmentosa 3,TRUE,FALSE,Active +GARD:10382,Active,Orphanet+OMIM,OMIM:180104,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 9,,"Autosomal dominant retinitis pigmentosa (ADRP) is characterized by a typical fundus appearance, narrowed retinal vessels, and changes in the electrophysiological responses of the eye. Early signs are night blindness and constriction of the visual fields with a variable ages of onset (summary by {4:Jay et al., 1992}).",[180104],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 9,TRUE,FALSE,Active +GARD:10383,Active,Orphanet+OMIM,OMIM:600138,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 11,,"Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment.\n\nFor a discussion of genetic heterogeneity of RP, see {268000}.",[600138],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 11,TRUE,FALSE,Active +GARD:10384,Active,Orphanet+OMIM,OMIM:602772,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 25,,,[602772],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 25,TRUE,FALSE,Active +GARD:10385,Active,Orphanet+OMIM,OMIM:600132,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 14,,,[600132],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 14,TRUE,FALSE,Active +GARD:10386,Active,Orphanet+OMIM,OMIM:608133,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 7,,,[608133],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 7,TRUE,FALSE,Active +GARD:10387,Active,Orphanet+OMIM,OMIM:600852,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 17,,"Retinitis pigmentosa-17 (RP17) is characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression. Many affected individuals have preserved central vision and acuity until the sixth or seventh decades of life ({4:de Bruijn et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[600852],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 17,TRUE,FALSE,Active +GARD:10388,Active,Orphanet+OMIM,OMIM:600059,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 13,,,[600059],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 13,TRUE,FALSE,Active +GARD:10389,Active,Orphanet+OMIM,OMIM:300155,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 24,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[300155],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 24,TRUE,FALSE,Active +GARD:1039,Active,Orphanet,ORPHA:312,Disorder,[Disease],Autosomal dominant epidermolytic ichthyosis,"[BCIE, Bullous congenital ichthyosiform erythroderma, Bullous congenital ichthyosiform erythroderma of Brock, Bullous ichthyosis, EHK, EI, Epidermolytic hyperkeratosis, Ichthyosis hystrix Brocq type]","Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.","[607602, 113800]",,,,,Epidermolytic ichthyosis,TRUE,FALSE,Active +GARD:10390,Active,Orphanet+OMIM,OMIM:300605,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 34,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[300605],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 34,TRUE,FALSE,Active +GARD:10391,Active,Orphanet+OMIM,OMIM:300424,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 23,,,[300424],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 23,TRUE,FALSE,Active +GARD:10392,Active,Orphanet+OMIM,OMIM:601414,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 18,,,[601414],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 18,TRUE,FALSE,Active +GARD:10393,Active,Orphanet+OMIM,OMIM:602594,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 22,,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[602594],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 22,TRUE,FALSE,Active +GARD:10394,Active,Orphanet+OMIM,OMIM:606068,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 28,,,[606068],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 28,TRUE,FALSE,Active +GARD:10395,Active,Orphanet+OMIM,OMIM:609913,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 32,,,[609913],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 32,TRUE,FALSE,Active +GARD:10396,Active,Orphanet+OMIM,OMIM:609923,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 31,,,[609923],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 31,TRUE,FALSE,Active +GARD:10397,Active,Orphanet+OMIM,OMIM:608380,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 26,,,[608380],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 26,TRUE,FALSE,Active +GARD:10398,Active,Orphanet+OMIM,OMIM:601718,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 19,,,[601718],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 19,TRUE,FALSE,Active +GARD:10399,Legacy,GARD,,,,,,,,,,,,Retinitis Pigmentosa 15,TRUE,FALSE,Active +GARD:104,Active,Orphanet,ORPHA:2704,Disorder,[Malformation syndrome],Ochoa syndrome,"[Hydronephrosis-inverted smile syndrome, Inverted smile-neurogenic bladder syndrome, Partial facial palsy with urinary abnormalities, Urofacial syndrome]",Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.,"[236730, 615112]",,,,,Ochoa syndrome,TRUE,FALSE,Active +GARD:10400,Active,Orphanet+OMIM,OMIM:610359,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 33,,,[610359],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 33,TRUE,FALSE,Active +GARD:10401,Active,Orphanet+OMIM,OMIM:607921,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 30,,,[607921],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 30,TRUE,FALSE,Active +GARD:10402,Active,Orphanet+OMIM,OMIM:610282,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 35,,,[610282],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 35,TRUE,FALSE,Active +GARD:10403,Active,Orphanet+OMIM,OMIM:610599,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 36,,,[610599],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 36,TRUE,FALSE,Active +GARD:10404,Active,Orphanet+OMIM,OMIM:613794,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 20,,,[613794],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 20,TRUE,FALSE,Active +GARD:10405,Active,Orphanet+OMIM,OMIM:613731,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 4,"[Retinitis pigmentosa, rhodopsin-related]",,[613731],[791],[Retinitis pigmentosa],[5694],,Retinitis Pigmentosa 4,TRUE,FALSE,Active +GARD:10406,Legacy,GARD,,,,,,,,,,,,Scurvy,TRUE,FALSE,Active +GARD:10407,Active,Orphanet,ORPHA:293987,Disorder,[Disease],Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome,"[ROHHAD, ROHHADNET, Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome]","A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated.",,,,,,ROHHAD,TRUE,FALSE,Active +GARD:10409,Legacy,GARD,,,,,,,,,,,,Digestive System Melanoma,TRUE,FALSE,Active +GARD:1041,Legacy,GARD,,,,,,,,,,,,Burn Goodship syndrome,TRUE,FALSE,Active +GARD:10410,Legacy,GARD,,,,,,,,,,,,Primary malignant melanoma of the conjunctiva,TRUE,FALSE,Active +GARD:10411,Active,Orphanet,ORPHA:370396,Disorder,[Disease],Small cell carcinoma of the ovary,"[SCCO, Small cell ovarian carcinoma]","Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.",,,,,,Ovarian small cell carcinoma,TRUE,FALSE,Active +GARD:10412,Legacy,GARD,,,,,,,,,,,,Spitz nevus,TRUE,FALSE,Active +GARD:10413,Active,Orphanet,ORPHA:730,Disorder,[Disease],Autosomal dominant polycystic kidney disease,[ADPKD],"A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD).","[600666, 613095, 173900]",,,,,Autosomal dominant polycystic kidney disease,FALSE,FALSE,Active +GARD:10414,Active,Orphanet,ORPHA:329984,Subtype of disorder,[Clinical subtype],Goblet cell carcinoma,"[GCC, Goblet cell adenocarcinoid, Goblet cell carcinoid, Goblet cell tumor]","Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix (see this term) presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.",,,,,,Goblet cell carcinoid,TRUE,FALSE,Active +GARD:10415,Legacy,GARD,,,,,,,,,,,,Familial breast cancer,FALSE,FALSE,Active +GARD:10416,Active,Orphanet,ORPHA:391665,Disorder,[Disease],Homozygous familial hypercholesterolemia,[HoFH],"A rare disorder of lipid metabolism characterized by severely elevated low-density lipoprotein cholesterol levels and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of cardiovascular disease at an early age. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction.","[143890, 144010, 602247, 603813]",,,,,Familial hypercholesterolemia,FALSE,FALSE,Active +GARD:10417,Active,Orphanet,ORPHA:465508,Disorder,[Disease],Symptomatic form of hemochromatosis type 1,"[Symptomatic form of HFE-related hereditary hemochromatosis, Symptomatic form of classic hemochromatosis]","Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.",[235200],,,,,Hemochromatosis type 1,FALSE,FALSE,Active +GARD:10418,Active,Orphanet,ORPHA:448,Group of disorders,[Clinical group],Hemophilia,,A rare hematological disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.,,,,,,Hemophilia,TRUE,FALSE,Active +GARD:10419,Active,Orphanet,ORPHA:206647,Group of disorders,[Clinical group],Myotonic dystrophy,,,,,,,,Myotonic dystrophy,TRUE,FALSE,Active +GARD:1042,Legacy,GARD,,,,,,,,,,,,Burnett Schwartz Berberian syndrome,TRUE,FALSE,Retired +GARD:10420,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis,TRUE,FALSE,Active +GARD:10421,Legacy,GARD,,,,,,,,,,,,Skin cancer,FALSE,FALSE,Active +GARD:10422,Legacy,GARD,,,,,,,,,,,,Cholesteatoma,TRUE,FALSE,Active +GARD:10423,Active,Orphanet,ORPHA:35656,Group of disorders,[Clinical group],Coenzyme Q10 deficiency,[CoQ10 deficiency],,,,,,,Coenzyme Q10 deficiency,TRUE,FALSE,Active +GARD:10424,Active,Orphanet,ORPHA:199354,Disorder,[Disease],Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,"[CARASIL, Maeda syndrome]","CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.",[600142],,,,,Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy,TRUE,FALSE,Active +GARD:10426,Legacy,GARD,,,,,,,,,,,,"Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension",TRUE,FALSE,Retired +GARD:10427,Active,Orphanet,ORPHA:181,Subtype of disorder,[Etiological subtype],X-linked hypohidrotic ectodermal dysplasia,"[Christ-Siemens-Touraine syndrome, X-linked anhidrotic ectodermal dysplasia, XHED]",,[305100],,,,,X-linked hypohidrotic ectodermal dysplasia,TRUE,FALSE,Active +GARD:10428,Active,Orphanet,ORPHA:441,Disorder,[Disease],Pure autonomic failure,"[Bradbury-Eggleston syndrome, Idiopathic orthostatic hypotension, PAF, Pure dysautonomia, Pure idiopatic dysautonomia]",Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.,,,,,,Pure autonomic failure,TRUE,FALSE,Active +GARD:10429,Active,Orphanet,ORPHA:93304,Disorder,[Malformation syndrome],Autosomal dominant brachyolmia,[Brachyolmia type 3],"A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.",[113500],,,,,Brachyolmia type 3,TRUE,FALSE,Active +GARD:10430,Active,Orphanet,ORPHA:33069,Disorder,[Disease],Dravet syndrome,"[SMEI, Severe myoclonic epilepsy of infancy, Severe myoclonus epilepsy of infancy]","A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.","[607208, 612164, 615744]",,,,,Dravet syndrome,TRUE,FALSE,Active +GARD:10431,Legacy,GARD,,,,,,,,,,,,Endemic Kaposi sarcoma,TRUE,FALSE,Active +GARD:10432,Active,Orphanet+OMIM,OMIM:600919,Subtype of disorder,[Disease subtype],"Cardiac arrhythmia, ankyrin-b-related",[Ankyrin-b syndrome],"Loss-of-function mutations in ANK2 can result in a broad spectrum of clinical cardiac phenotypes. Carriers of some mutations (e.g., E1425G, {106410.0001}) display QT interval prolongation, stress- and/or exercise-induced polymorphic ventricular arrhythmia, syncope, and sudden cardiac death. Patients with other variants show clinical phenotypes, sometimes mild, extending beyond LQTS, leading to the label 'ankyrin-B syndrome.' These phenotypes include bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia ({1:Mohler et al., 2007}).",[600919],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 4,TRUE,FALSE,Active +GARD:10433,Active,Orphanet+OMIM,OMIM:613695,Subtype of disorder,[Disease subtype],Long qt syndrome 5,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({1:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[613695],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 5,TRUE,FALSE,Active +GARD:10434,Active,Orphanet+OMIM,OMIM:613693,Subtype of disorder,[Disease subtype],Long qt syndrome 6,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({2:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[613693],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 6,TRUE,FALSE,Active +GARD:10435,Active,Orphanet+OMIM,OMIM:611818,Subtype of disorder,[Disease subtype],Long qt syndrome 9,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({2:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[611818],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 9,TRUE,FALSE,Active +GARD:10436,Active,Orphanet+OMIM,OMIM:611819,Subtype of disorder,[Disease subtype],Long qt syndrome 10,,,[611819],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 10,TRUE,FALSE,Active +GARD:10437,Active,Orphanet+OMIM,OMIM:611820,Subtype of disorder,[Disease subtype],Long qt syndrome 11,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({2:Jongbloed et al., 1999}).",[611820],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 11,TRUE,FALSE,Active +GARD:10438,Legacy,GARD,,,,,,,,,,,,Microcystic adnexal carcinoma,TRUE,FALSE,Active +GARD:10439,Legacy,GARD,,,,,,,,,,,,Hidradenocarcinoma,TRUE,FALSE,Active +GARD:1044,Active,Orphanet,ORPHA:1306,Disorder,[Malformation syndrome],Buschke-Ollendorff syndrome,[Disseminated dermatofibrosis with osteopoikilosis],Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.,[166700],,,,,Buschke-Ollendorff syndrome,TRUE,FALSE,Active +GARD:10440,Legacy,GARD,,,,,,,,,,,,Neonatal meningitis,TRUE,FALSE,Active +GARD:10441,Legacy,GARD,,,,,,,,,,,,Lathyrism,TRUE,FALSE,Active +GARD:10442,Legacy,GARD,,,,,,,,,,,,Cassavism,TRUE,FALSE,Active +GARD:10443,Active,Orphanet,ORPHA:477738,Disorder,[Disease],Pediatric multiple sclerosis,,"Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.",,,,,,Pediatric multiple sclerosis,TRUE,FALSE,Active +GARD:10444,Legacy,GARD,,,,,,,,,,,,Neonatal stroke,TRUE,FALSE,Active +GARD:10445,Active,Orphanet,ORPHA:101028,Disorder,[Disease],Transaldolase deficiency,[TALDO deficiency],"Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.",[606003],,,,,Transaldolase deficiency,TRUE,FALSE,Active +GARD:10446,Legacy,GARD,,,,,,,,,,,,Cerebral palsy spastic monoplegic,TRUE,FALSE,Active +GARD:10447,Legacy,GARD,,,,,,,,,,,,Cerebral palsy spastic quadriplegic,TRUE,FALSE,Active +GARD:10448,Legacy,GARD,,,,,,,,,,,,Cerebral palsy spastic hemiplegic,TRUE,FALSE,Active +GARD:10449,Legacy,GARD,,,,,,,,,,,,Cerebral palsy athetoid,TRUE,FALSE,Active +GARD:1045,Legacy,GARD,,,,,,,,,,,,Bustos Simosa Pinto Cisternas syndrome,TRUE,FALSE,Active +GARD:10450,Legacy,GARD,,,,,,,,,,,,Cerebral palsy,FALSE,FALSE,Active +GARD:10451,Legacy,GARD,,,,,,,,,,,,Cerebral palsy ataxic,TRUE,FALSE,Active +GARD:10452,Legacy,GARD,,,,,,,,,,,,Hepatic encephalopathy,TRUE,FALSE,Active +GARD:10453,Active,Orphanet,ORPHA:178509,Disorder,[Disease],Perry syndrome,[Parkinsonism with alveolar hypoventilation and mental depression],"A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.",[168605],,,,,Perry syndrome,TRUE,FALSE,Active +GARD:10454,Legacy,GARD,,,,,,,,,,,,Brunsting-Perry syndrome,TRUE,FALSE,Active +GARD:10455,Legacy,GARD,,,,,,,,,,,,Familial pulmonary arterial hypertension leucopenia and atrial septal defect,TRUE,FALSE,Active +GARD:10456,Legacy,GARD,,,,,,,,,,,,Polyosteolysis/hyperostosis syndrome,TRUE,FALSE,Active +GARD:10457,Active,Orphanet,ORPHA:99885,Disorder,[Disease],Isolated permanent neonatal diabetes mellitus,"[Isolated PNDM, Monogenic diabetes of infancy]","Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.","[618856, 618857, 606176, 618858]",,,,,Permanent neonatal diabetes mellitus,TRUE,FALSE,Active +GARD:10458,Legacy,GARD,,,,,,,,,,,,"Recessive developmental delay, small stature, microcephaly and brain calcifications",TRUE,FALSE,Draft +GARD:10459,Legacy,GARD,,,,,,,,,,,,Cerebrocostomandibular-like syndrome,TRUE,FALSE,Active +GARD:10460,Active,Orphanet,ORPHA:438274,Disorder,[Disease],GCGR-related hyperglucagonemia,[Mahvash disease],"A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.",[619290],,,,,Mahvash disease,TRUE,FALSE,Active +GARD:10463,Legacy,GARD,,,,,,,,,,,,Papillary eccrine adenoma,TRUE,FALSE,Active +GARD:10464,Legacy,GARD,,,,,,,,,,,,Malignant cylindroma,TRUE,FALSE,Active +GARD:10465,Legacy,GARD,,,,,,,,,,,,Eccrine mucinous carcinoma,TRUE,FALSE,Active +GARD:10466,Legacy,GARD,,,,,,,,,,,,Malignant eccrine spiradenoma,TRUE,FALSE,Active +GARD:10467,Active,Orphanet,ORPHA:464321,Disorder,[Disease],Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome,"[Cutaneovisceral angiomatosis-thrombocytopenia syndrome, MLT, Multifocal lymphangioendotheliomatosis with thrombocytopenia]","A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma.",,,,,,Multifocal lymphangioendotheliomatosis with thrombocytopenia,TRUE,FALSE,Active +GARD:10468,Legacy,GARD,,,,,,,,,,,,Cardiac rupture,TRUE,FALSE,Active +GARD:10469,Active,Orphanet,ORPHA:98759,Disorder,[Disease],Spinocerebellar ataxia type 17,"[HDL4, Huntington disease-like 4, SCA17]","Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.",[607136],,,,,Spinocerebellar ataxia 17,TRUE,FALSE,Active +GARD:10470,Legacy,GARD,,,,,,,,,,,,BK-virus nephropathy,TRUE,FALSE,Active +GARD:10471,Active,Orphanet,ORPHA:34514,Disorder,[Disease],Telethonin-related limb-girdle muscular dystrophy R7,"[Autosomal recessive limb-girdle muscular dystrophy type 2G, LGMD due to telethonin deficiency, LGMD type 2G, LGMD2G, Limb-girdle muscular dystrophy due to telethonin deficiency, Limb-girdle muscular dystrophy type 2G, Telethonin-related LGMD R7]","A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.",[601954],,,,,"Limb-girdle muscular dystrophy, type 2G",TRUE,FALSE,Active +GARD:10472,Active,Orphanet,ORPHA:79314,Disorder,[Disease],L-2-hydroxyglutaric aciduria,"[L-2-HGA, L-2-hydroxyglutaric acidemia]","L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.",[236792],,,,,L-2-hydroxyglutaric aciduria,TRUE,FALSE,Active +GARD:10473,Legacy,GARD,,,,,,,,,,,,Usual interstitial pneumonia,TRUE,FALSE,Retired +GARD:10474,Active,Orphanet,ORPHA:98761,Disorder,[Disease],Spinocerebellar ataxia type 10,[SCA10],"Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.",[603516],,,,,Spinocerebellar ataxia 10,TRUE,FALSE,Active +GARD:10475,Active,Orphanet,ORPHA:98767,Disorder,[Disease],Spinocerebellar ataxia type 11,[SCA11],"A rare neurologic disease that is characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.",[604432],,,,,Spinocerebellar ataxia 11,TRUE,FALSE,Active +GARD:10476,Active,Orphanet,ORPHA:98762,Disorder,[Disease],Spinocerebellar ataxia type 12,[SCA12],Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.,[604326],,,,,Spinocerebellar ataxia 12,TRUE,FALSE,Active +GARD:10477,Active,Orphanet,ORPHA:98769,Disorder,[Disease],Spinocerebellar ataxia type 15/16,[SCA15/16],"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.",[606658],,,,,Spinocerebellar ataxia 15,TRUE,FALSE,Active +GARD:10480,Active,Orphanet,ORPHA:208513,Disorder,[Disease],Spinocerebellar ataxia type 29,"[Congenital nonprogressive spinocerebellar ataxia, SCA29]","An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.",[117360],,,,,Spinocerebellar ataxia 29,TRUE,FALSE,Active +GARD:10481,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia 9,TRUE,FALSE,Active +GARD:10482,Legacy,GARD,,,,,,,,,,,,Indolent B cell lymphoma,TRUE,FALSE,Active +GARD:10483,Legacy,GARD,,,,,,,,,,,,Patent ductus venosus,TRUE,FALSE,Active +GARD:10484,Active,Orphanet,ORPHA:238455,Disorder,[Disease],Infantile dystonia-parkinsonism,"[IPD, PKDYS]",Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.,[613135],,,,,Dopamine transporter deficiency syndrome,TRUE,FALSE,Active +GARD:10485,Legacy,GARD,,,,,,,,,,,,Morphea,TRUE,FALSE,Active +GARD:10486,Active,Orphanet,ORPHA:54595,Disorder,[Disease],Craniopharyngioma,,Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.,,,,,,Craniopharyngioma,TRUE,FALSE,Active +GARD:10487,Active,Orphanet+OMIM,OMIM:611755,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 10,,"Leber congenital amaurosis is a severe retinal dystrophy, causing blindness or severe visual impairment at birth or during the first months of life (summary by {3:den Hollander et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}).",[611755],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 10,TRUE,FALSE,Active +GARD:10488,Active,Orphanet+OMIM,OMIM:613837,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 11,,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {2:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[613837],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 11,TRUE,FALSE,Active +GARD:10489,Active,Orphanet+OMIM,OMIM:610612,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 12,,,[610612],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 12,TRUE,FALSE,Active +GARD:1049,Active,Orphanet,ORPHA:136,Disorder,[Disease],Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,"[CADASIL, Hereditary multi-infarct dementia]",CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.,[125310],,,,,CADASIL,TRUE,FALSE,Active +GARD:10490,Active,Orphanet+OMIM,OMIM:613826,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 6,,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {1:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[613826],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 6,TRUE,FALSE,Active +GARD:10491,Active,Orphanet,ORPHA:86897,Disorder,[Disease],Langerhans cell sarcoma,,"A rare dendritic cell tumor characterized by an aggressive, high-grade neoplasm derived from Langerhans cells, most commonly extranodal and multifocal, involving the skin and underlying soft tissue, as well as lung, liver, spleen, and bone. Primary nodal involvement is seen in a minority of patients. Immune-phenotyping and the presence of Birbeck granules on ultrastructural examination reveal the Langerhans cell derivation of the neoplastic cells. Prognosis is generally poor.",,,,,,Langerhans cell sarcoma,TRUE,FALSE,Active +GARD:10493,Active,Orphanet,ORPHA:86873,Disorder,[Disease],Aggressive NK-cell leukemia,"[ANKCL, Aggressive NK-cell lymphoma, NK-cell LGL leukemia, NK-cell large granular lymphocyte leukemia]","An extremely rare and highly aggressive neoplasm, usually manifesting in the third to fourth decade of life, affecting males and females equally, and characterized by the onset of high fever, weight loss, jaundice, skin infiltration, lymphadenopathy, hepatosplenomegaly, and severe anemia. It has a fulminant and rapidly fatal disease course with the progressive appearance of multiorgan failure and disseminated intravascular coagulation.",,,,,,Aggressive NK cell leukemia,TRUE,FALSE,Active +GARD:10494,Active,Orphanet,ORPHA:70588,Disorder,[Disease],Meconium aspiration syndrome,,"Meconium aspiration syndrome is a pulmonary complication appearing in newborns with a meconium-stained amniotic fluid. Aspirated meconium can interfere with normal breathing by several mechanisms including airway obstruction, chemical irritation, infection and surfactant inactivation and induces more or less severe signs of respiratory distress at birth.",,,,,,Meconium aspiration syndrome,TRUE,FALSE,Active +GARD:10495,Legacy,GARD,,,,,,,,,,,,Wilson-Mikity syndrome,TRUE,FALSE,Retired +GARD:10496,Active,Orphanet+OMIM,OMIM:612577,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 11,,,[612577],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 11,TRUE,FALSE,Active +GARD:10497,Legacy,GARD,,,,,,,,,,,,Amyotrophic lateral sclerosis type 10,TRUE,FALSE,Active +GARD:10498,Active,Orphanet+OMIM,OMIM:611895,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 9,,,[611895],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 9,TRUE,FALSE,Active +GARD:10499,Active,Orphanet+OMIM,OMIM:608627,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 8,,,[608627],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 8,TRUE,FALSE,Active +GARD:105,Active,Orphanet,ORPHA:2719,Disorder,[Malformation syndrome],"Oculocerebral hypopigmentation syndrome, Cross type",[Cross syndrome],"Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.",[257800],,,,,Oculocerebral syndrome with hypopigmentation,TRUE,FALSE,Active +GARD:1050,Legacy,GARD,,,,,,,,,,,,"Cafe au lait spots, multiple",TRUE,FALSE,Retired +GARD:10500,Active,Orphanet+OMIM,OMIM:608031,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 7,,"For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 ({105400}).",[608031],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 7,TRUE,FALSE,Active +GARD:10501,Active,Orphanet+OMIM,OMIM:606640,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 3,,"Amyotrophic lateral sclerosis-3 (ALS3) is a neurodegenerative disorder characterized by the death of motor neurons in the cortex, brainstem, and spinal cord, resulting in progressive muscle weakness and atrophy and death from respiratory failure, usually within 3 to 5 years of symptom onset ({1:Brown, 1995}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400}).",[606640],[803],[Amyotrophic lateral sclerosis],[5786],,Amyotrophic lateral sclerosis type 3,TRUE,FALSE,Active +GARD:10502,Active,Orphanet,ORPHA:357043,Disorder,[Disease],Amyotrophic lateral sclerosis type 4,"[ALS4, Distal hereditary motor neuropathy with upper motor neuron signs, dHMN with upper motor neuron signs]","A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord.",[602433],,,,,Amyotrophic lateral sclerosis type 4,TRUE,FALSE,Active +GARD:10503,Legacy,GARD,,,,,,,,,,,,Amyotrophic lateral sclerosis type 5,TRUE,FALSE,Active +GARD:10504,Active,Orphanet,ORPHA:63260,Disorder,[Morphological anomaly],Craniorachischisis,,Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.,,,,,,Craniorachischisis,TRUE,FALSE,Active +GARD:10505,Active,Orphanet,ORPHA:98562,Group of disorders,[Category],Cryptophthalmia,,,,,,,,Cryptophthalmos,TRUE,FALSE,Active +GARD:10506,Active,Orphanet,ORPHA:63259,Disorder,[Morphological anomaly],Iniencephaly,,Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.,,,,,,Iniencephaly,TRUE,FALSE,Active +GARD:10507,Legacy,GARD,,,,,,,,,,,,Preauricular sinus,FALSE,FALSE,Active +GARD:10508,Active,Orphanet,ORPHA:89938,Subtype of disorder,[Clinical subtype],Bartter syndrome type 4,"[Bartter syndrome type IV, Bartter syndrome with sensorineural deafness, Bartter syndrome with sensorineural hearing loss]","A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.","[602522, 613090]",,,,,Bartter syndrome type 4,TRUE,FALSE,Active +GARD:10509,Active,Orphanet,ORPHA:79087,Disorder,[Disease],Acquired partial lipodystrophy,"[Barraquer-Simons syndrome, Progressive cephalothoracic lipodystrophy]","A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor.",[608709],,,,,Barraquer-Simons syndrome,TRUE,FALSE,Active +GARD:1051,Active,Orphanet,ORPHA:1310,Disorder,[Malformation syndrome],Caffey disease,[Infantile cortical hyperostosis],"Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.",[114000],,,,,Caffey disease,TRUE,FALSE,Active +GARD:10510,Active,Orphanet,ORPHA:248111,Disorder,[Disease],Juvenile Huntington disease,"[JHD, Juvenile Huntington chorea]","Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.",[143100],,,,,Juvenile Huntington disease,TRUE,FALSE,Active +GARD:10511,Active,Orphanet+OMIM,OMIM:136900,Subtype of disorder,[Disease subtype],Sorsby fundus dystrophy,"[macular dystrophy, hemorrhagic, Fundus dystrophy, pseudoinflammatory, of sorsby]","Sorsby fundus dystrophy is an autosomal dominant retinal dystrophy characterized by the loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life (summary by {22:Wijesuriya et al., 1996}).",[136900],[59181],[Sorsby pseudoinflammatory fundus dystrophy],[16480],,"Fundus dystrophy, pseudoinflammatory, of Sorsby",TRUE,FALSE,Active +GARD:10512,Legacy,GARD,,,,,,,,,,,,Kniest-like dysplasia with pursed lips and ectopia lentis,TRUE,FALSE,Active +GARD:10513,Active,Orphanet,ORPHA:171866,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, aggrecan type","[SEMD, aggrecan type]","Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.",[612813],,,,,"Spondyloepimetaphyseal dysplasia, Aggrecan type",TRUE,FALSE,Active +GARD:10514,Active,Orphanet,ORPHA:199343,Disorder,[Disease],EAST syndrome,"[Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome, Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome, SeSAME syndrome, Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome, Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome]","A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.",[612780],,,,,SeSAME syndrome,TRUE,FALSE,Active +GARD:10515,Active,Orphanet,ORPHA:95430,Disorder,[Morphological anomaly],Congenital tracheomalacia,[Congenital major airway collapse],"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.",,,,,,Congenital tracheomalacia,TRUE,FALSE,Active +GARD:10516,Active,Orphanet,ORPHA:210115,Disorder,[Disease],Sterile multifocal osteomyelitis with periostitis and pustulosis,"[Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency, DIRA, Interleukin-1 receptor antagonist deficiency, OMPP]","Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.",[612852],,,,,Deficiency of interleukin-1 receptor antagonist,TRUE,FALSE,Active +GARD:10517,Active,Orphanet+OMIM,OMIM:601499,Subtype of disorder,[Malformation syndrome subtype],"Axenfeld-rieger syndrome, type 2",,"Axenfeld-Rieger syndrome is a disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals. Systemic abnormalities, including cardiac and dental anomalies, are associated.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity and nomenclature of Axenfeld-Rieger syndrome, see RIEG1 ({180500}).",[601499],[782],[Axenfeld-Rieger syndrome],[5701],,Axenfeld-Rieger syndrome type 2,TRUE,FALSE,Retired +GARD:10518,Active,Orphanet,ORPHA:2752,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 3,"[OFD3, Oral-facial-digital syndrome type 3, Sugarman syndrome]","Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.",[258850],,,,,Orofaciodigital syndrome 3,TRUE,FALSE,Active +GARD:1052,Active,Orphanet,ORPHA:1375,Disorder,[Malformation syndrome],Cataract-hypertrichosis-intellectual disability syndrome,[CAHMR syndrome],"Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.",[211770],,,,,CAHMR syndrome,TRUE,FALSE,Retired +GARD:10520,Active,Orphanet,ORPHA:141007,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 9,"[OFD9, Oral-facial-digital syndrome type 9, Oral-facial-digital syndrome with retinal abnormalities, Orofaciodigital syndrome with retinal abnormalities]","Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).",[258865],,,,,Orofaciodigital syndrome 9,TRUE,FALSE,Active +GARD:10521,Legacy,GARD,,,,,,,,,,,,Familial eosinophilia,TRUE,FALSE,Active +GARD:10522,Active,Orphanet,ORPHA:330054,Disorder,[Disease],Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,[Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome],"Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.",[613076],,,,,"Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay",TRUE,FALSE,Active +GARD:10523,Active,Orphanet,ORPHA:317430,Subtype of disorder,[Clinical subtype],Combined immunodeficiency due to STIM1 deficiency,[CID due to STIM1 deficiency],"Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.",[612783],,,,,Immune dysfunction with T-cell inactivation due to calcium entry defect 2,TRUE,FALSE,Active +GARD:10524,Active,Orphanet,ORPHA:317428,Subtype of disorder,[Clinical subtype],Combined immunodeficiency due to ORAI1 deficiency,[CID due to ORAI1 deficiency],"Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.",[612782],,,,,Immune dysfunction with T-cell inactivation due to calcium entry defect 1,TRUE,FALSE,Active +GARD:10525,Active,Orphanet,ORPHA:261183,Disorder,[Malformation syndrome],15q11.2 microdeletion syndrome,"[15q11.2 BP1-BP2 microdeletion syndrome, Del(15)(q11.2), Monosomy 15q11.2]","15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).",[615656],,,,,15q11.2 microdeletion,TRUE,FALSE,Active +GARD:10526,Active,Orphanet,ORPHA:69083,Disorder,[Malformation syndrome],"Ectodermal dysplasia with natal teeth, Turnpenny type",,"A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.",[601345],,,,,Ectodermal dysplasia with natal teeth Turnpenny type,TRUE,FALSE,Active +GARD:10527,Legacy,GARD,,,,,,,,,,,,Levy-Yeboa syndrome,TRUE,FALSE,Retired +GARD:10528,Active,Orphanet,ORPHA:2025,Disorder,[Malformation syndrome],Gingival fibromatosis-facial dysmorphism syndrome,,A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.,[228560],,,,,Gingival fibromatosis with distinctive facies,TRUE,FALSE,Active +GARD:10529,Active,Orphanet,ORPHA:593,Group of disorders,[Category],Myofibrillar myopathy,,"Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.",,,,,,Myofibrillar myopathy,TRUE,FALSE,Active +GARD:1053,Active,Orphanet,ORPHA:220402,Subtype of disorder,[Clinical subtype],Limited cutaneous systemic sclerosis,[Limited cutaneous systemic scleroderma],"Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.",[181750],,,,,Limited cutaneous systemic sclerosis,TRUE,FALSE,Active +GARD:10531,Legacy,GARD,,,,,,,,,,,,Vernal keratitis,TRUE,FALSE,Active +GARD:10533,Active,Orphanet,ORPHA:53351,Disorder,[Disease],X-linked dystonia-parkinsonism,"[DYT3, Lubag, Lubag syndrome, XDP]","X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.",[314250],,,,,X-linked dystonia-parkinsonism/Lubag,TRUE,FALSE,Active +GARD:10534,Legacy,GARD,,,,,,,,,,,,"Hereditary endotheliopathy, retinopathy, nephropathy, and stroke",TRUE,FALSE,Retired +GARD:10535,Legacy,GARD,,,,,,,,,,,,Hereditary vascular retinopathy,TRUE,FALSE,Active +GARD:10536,Active,Orphanet,ORPHA:370103,Disorder,[Disease],"Primary dystonia, DYT17 type",,"Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.",[612406],,,,,Dystonia 17,TRUE,FALSE,Retired +GARD:10537,Active,Orphanet,ORPHA:98807,Disorder,[Disease],"Primary dystonia, DYT13 type","[DYT13, Primary dystonia with mixed phenotype, Primary torsion dystonia with predominant craniocervical or upper limb onset]","A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.",[607671],,,,,Dystonia 13,TRUE,FALSE,Retired +GARD:10538,Active,Orphanet,ORPHA:171629,Disorder,[Disease],Autosomal recessive spastic paraplegia type 35,[SPG35],"Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.",[612319],,,,,"Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia",TRUE,FALSE,Active +GARD:10539,Active,Orphanet,ORPHA:210571,Disorder,[Disease],Dystonia 16,"[DYT16, Early-onset dystonia parkinsonism]","Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.",[612067],,,,,DYT-PRKRA,TRUE,FALSE,Active +GARD:10540,Legacy,GARD,,,,,,,,,,,,Dystonia 19,TRUE,FALSE,Retired +GARD:10541,Active,Orphanet,ORPHA:98811,Disorder,[Disease],Paroxysmal exertion-induced dyskinesia,"[DYT18, Dystonia 18, PED]","Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.",[612126],,,,,Paroxysmal exertion-induced dyskinesia,TRUE,FALSE,Active +GARD:10542,Legacy,GARD,,,,,,,,,,,,Lipedema,FALSE,FALSE,Active +GARD:10543,Legacy,GARD,,,,,,,,,,,,Duodenal carcinoid syndrome,TRUE,FALSE,Active +GARD:10544,Active,Orphanet+OMIM,OMIM:601650,Subtype of disorder,[Disease subtype],Paragangliomas 2,"[Glomus tumors, familial, 2]",,[601650],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,Paragangliomas 2,TRUE,FALSE,Active +GARD:10545,Active,Orphanet+OMIM,OMIM:605373,Subtype of disorder,[Disease subtype],Paragangliomas 3,"[Glomus tumors, familial, 3]",,[605373],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,Paragangliomas 3,TRUE,FALSE,Active +GARD:10546,Active,Orphanet+OMIM,OMIM:115310,Subtype of disorder,[Disease subtype],Paragangliomas 4,"[paraganglioma, familial malignant, pheochromocytoma, familial extraadrenal, paragangliomas, hereditary extraadrenal, Carotid body tumors and multiple extraadrenal pheochromocytomas, pheochromocytoma, extraadrenal, and cervical paraganglioma]",,[115310],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,Paragangliomas 4,TRUE,FALSE,Active +GARD:10547,Legacy,GARD,,,,,,,,,,,,Syringoma,FALSE,FALSE,Active +GARD:10548,Legacy,GARD,,,,,,,,,,,,Mycobacterium Abscessus,TRUE,FALSE,Active +GARD:10549,Legacy,GARD,,,,,,,,,,,,Mycobacterium Malmoense,TRUE,FALSE,Active +GARD:1055,Legacy,GARD,,,,,,,,,,,,Calloso-genital dysplasia,TRUE,FALSE,Active +GARD:10550,Legacy,GARD,,,,,,,,,,,,Mycobacterium Xenopi,TRUE,FALSE,Active +GARD:10551,Legacy,GARD,,,,,,,,,,,,Mycobacterium Kansasii,TRUE,FALSE,Active +GARD:10552,Legacy,GARD,,,,,,,,,,,,Mycobacterium Chelonae,TRUE,FALSE,Active +GARD:10553,Legacy,GARD,,,,,,,,,,,,Mycobacterium Gordonae,TRUE,FALSE,Active +GARD:10555,Legacy,GARD,,,,,,,,,,,,Trabecular myopathy,TRUE,FALSE,Retired +GARD:10556,Active,Orphanet,ORPHA:86870,Disorder,[Disease],CD4+/CD56+ hematodermic neoplasm,"[BPDCN, Blastic NK-cell lymphoma, Blastic plasmacytoid dendritic cell neoplasm, Lymphoblastoid variant of NK-cell lymphoma, Monomorphic NK-cell lymphoma]","A rare hematologic neoplasm characterized by origin from precursors of plasmacytoid dendritic cells, with frequent cutaneous, bone marrow, and lymph node involvement, as well as leukemic dissemination. Most common clinical presentation is with asymptomatic solitary or multiple skin lesions (either isolated purplish nodules, isolated bruise-like papules, or disseminated purplish nodules/macules/papules), although some patients may present with leukemia. Skin biopsy shows a diffuse, monomorphous infiltrate of medium-sized blast cells resembling either lymphoblasts or myeloblasts, with massive involvement of the dermis. The clinical course is aggressive, and age has an adverse impact on prognosis.",,,,,,Blastic plasmacytoid dendritic cell,TRUE,FALSE,Active +GARD:10557,Active,Orphanet,ORPHA:1727,Disorder,[Malformation syndrome],22q11.2 duplication syndrome,"[22q11.2 microduplication syndrome, Dup(22)(q11), Duplication 22q11.2, Trisomy 22q11.2]","A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.",[608363],,,,,22q11.2 duplication syndrome,TRUE,FALSE,Active +GARD:10558,Legacy,GARD,,,,,,,,,,,,Myoepithelial carcinoma,TRUE,FALSE,Active +GARD:10559,Active,Orphanet,ORPHA:264665,Group of disorders,[Category],Primary interstitial lung disease specific to childhood,[Primary ILD specific to childhood],,,,,,,Children's interstitial lung disease,TRUE,FALSE,Active +GARD:10560,Active,Orphanet,ORPHA:85445,Disorder,[Disease],AA amyloidosis,"[Inflammatory amyloidosis, Reactive amyloidosis, Secondary amyloidosis]","A rare amyloidosis that complicates chronic inflammatory disorders and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. The kidney is involved in virtually all patients and dominates the clinical picture. Other frequently involved sites are the liver, the spleen, suprarenal gland, gut and less frequently the heart.",,,,,,Amyloidosis AA,TRUE,FALSE,Active +GARD:10562,Active,Orphanet,ORPHA:137810,Disorder,[Disease],Nodular cutaneous amyloidosis,"[PLCNA, Primary localized cutaneous nodular amyloidosis]","Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren’s syndrome and CREST syndrome (see these terms).",,,,,,Primary localized cutaneous nodular amyloidosis,TRUE,FALSE,Active +GARD:10563,Legacy,GARD,,,,,,,,,,,,Amyloidosis Beta2M,TRUE,FALSE,Active +GARD:10564,Legacy,GARD,,,,,,,,,,,,Adenocarcinoma of the appendix,TRUE,FALSE,Active +GARD:10565,Legacy,GARD,,,,,,,,,,,,Pseudo Pelger-Huet anomaly,TRUE,FALSE,Active +GARD:10566,Legacy,GARD,,,,,,,,,,,,Reese retinal dysplasia,TRUE,FALSE,Active +GARD:10568,Legacy,GARD,,,,,,,,,,,,Dauwerse-Peters syndrome,TRUE,FALSE,Active +GARD:10569,Legacy,GARD,,,,,,,,,,,,Guttate psoriasis,TRUE,FALSE,Active +GARD:1057,Active,Orphanet,ORPHA:267,Disorder,[Disease],Calpain-3-related limb-girdle muscular dystrophy R1,"[Autosomal recessive limb-girdle muscular dystrophy type 2A, Calpain-3-related LGMD R1, LGMD type 2A, LGMD2A, Limb-girdle muscular dystrophy due to calpain deficiency, Limb-girdle muscular dystrophy type 2A, Primary calpainopathy]","A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.","[253600, 618129]",,,,,Limb-girdle muscular dystrophy type 2A,TRUE,FALSE,Active +GARD:10570,Active,Orphanet+OMIM,OMIM:263650,Subtype of disorder,[Malformation syndrome subtype],Bartsocas-papas syndrome 1,"[pterygium, popliteal, lethal type, multiple pterygium syndrome, aslan type, Popliteal pterygium syndrome, bartsocas-papas type 1, popliteal pterygium syndrome, lethal type]","Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by {12:Mitchell et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Bartsocas-Papas Syndrome\n\nBartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene ({600664}).\n\nA less severe form of popliteal pterygium syndrome (PPS; {119500}) is caused by mutation in the IRF6 gene ({607199}).",[263650],[1234],[Bartsocas-Papas syndrome],[4436],,Multiple pterygium syndrome Aslan type,TRUE,FALSE,Retired +GARD:10571,Legacy,GARD,,,,,,,,,,,,Spondylospinal thoracic dysostosis,TRUE,FALSE,Active +GARD:10572,Active,Orphanet,ORPHA:85278,Disorder,[Malformation syndrome],Christianson syndrome,[X-linked Angelman-like syndrome],"A rare developmental defect during embryogenesis characterized by intellectual deficit, ataxia, postnatal microcephaly, and hyperkinesis.",[300243],,,,,Christianson syndrome,TRUE,FALSE,Active +GARD:10573,Active,Orphanet,ORPHA:488434,Disorder,[Malformation syndrome],"Camptodactyly syndrome, Guadalajara type 3",,"Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.",[611929],,,,,Camptodactyly syndrome Guadalajara type 3,TRUE,FALSE,Active +GARD:10574,Active,Orphanet,ORPHA:178333,Disorder,[Disease],Åland Islands eye disease,"[AIED, Forsius-Eriksson syndrome, Forsius-Eriksson type ocular albinism]","An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.",[300600],,,,,Aland island eye disease,TRUE,FALSE,Active +GARD:10575,Legacy,GARD,,,,,,,,,,,,PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY,TRUE,FALSE,Active +GARD:10576,Legacy,GARD,,,,,,,,,,,,Thrombocytopenia with elevated serum IgA and renal disease,TRUE,FALSE,Active +GARD:10577,Legacy,GARD,,,,,,,,,,,,ALK+ histiocytosis,TRUE,FALSE,Active +GARD:10578,Active,Orphanet,ORPHA:101089,Subtype of disorder,[Clinical subtype],Hyper-IgM syndrome type 2,"[AID deficiency, Activation-induced cytidine deaminase deficiency, HIGM2]",,[605258],,,,,Immunodeficiency with hyper IgM type 2,TRUE,FALSE,Active +GARD:10579,Active,Orphanet,ORPHA:101090,Subtype of disorder,[Clinical subtype],Hyper-IgM syndrome type 3,"[HIGM3, Hyper-IgM syndrome due to CD40 deficiency]",,[606843],,,,,Immunodeficiency with hyper IgM type 3,TRUE,FALSE,Active +GARD:1058,Active,Orphanet,ORPHA:391327,Disorder,[Disease],X-linked calvarial hyperostosis,,"X-linked calvarial hyperostosis is a rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.",[302030],,,,,Calvarial hyperostosis,TRUE,FALSE,Active +GARD:10580,Active,Orphanet,ORPHA:101091,Subtype of disorder,[Clinical subtype],Hyper-IgM syndrome type 4,[HIGM4],,[608184],,,,,Immunodeficiency with hyper IgM type 4,TRUE,FALSE,Active +GARD:10581,Active,Orphanet,ORPHA:101092,Subtype of disorder,[Clinical subtype],Hyper-IgM syndrome type 5,"[HIGM5, Hyper-IgM syndrome due to UNG deficiency, Hyper-IgM syndrome due to uracil N-glycosylase]",,[608106],,,,,Immunodeficiency with hyper IgM type 5,TRUE,FALSE,Active +GARD:10582,Active,Orphanet,ORPHA:217017,Disorder,[Malformation syndrome],Zechi-Ceide syndrome,[Occipital atretic cephalocele-unusual facies-large feet syndrome],"Zechi-Ceide syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.",[612916],,,,,Zechi Ceide syndrome,TRUE,FALSE,Active +GARD:10583,Active,Orphanet,ORPHA:59303,Disorder,[Disease],Neonatal ichthyosis-sclerosing cholangitis syndrome,"[IHSC, Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome, NISCH syndrome]","Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.",[607626],,,,,"Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis",TRUE,FALSE,Active +GARD:10584,Active,Orphanet,ORPHA:85170,Disorder,[Malformation syndrome],"Mesomelic dysplasia, Savarirayan type","[Mesomelic dysplasia with absent fibulas and triangular tibias, Triangular tibia-fibular aplasia syndrome]","Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.",[605274],,,,,Mesomelic dysplasia Savarirayan type,TRUE,FALSE,Active +GARD:10585,Active,Orphanet,ORPHA:86829,Disorder,[Disease],Chronic neutrophilic leukemia,,"A rare myeloproliferative neoplasm characterized by sustained peripheral blood neutrophilia, bone marrow hypercellularity due to neutrophilic granulocyte proliferation, and hepatosplenomegaly. Other organs may be infiltrated in addition. Microscopically, the bone marrow shows an increase in proportion of myelocytes and mature neutrophils, but no significant dysplasia in any of the cell lineages. Peripheral blood neutrophils are mostly segmented, although band forms may also be substantially increased. Cytogenetic abnormalities are absent in most cases. The disease is slowly progressive with progredient neutrophilia followed by anemia and thrombocytopenia. Transformation to acute myeloid leukemia may occur.",,,,,,Chronic neutrophilic leukemia,TRUE,FALSE,Active +GARD:10586,Active,Orphanet+OMIM,OMIM:610168,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]",Loeys-dietz syndrome 2,"[Aortic aneurysm, familial thoracic 3, marfan syndrome, type ii, formerly]",,[610168],"[91387, 60030]","[Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection]","[10788, 2249]",,Loeys-Dietz syndrome type 2,TRUE,FALSE,Active +GARD:10587,Active,Orphanet,ORPHA:99027,Disorder,[Disease],Adult-onset autosomal dominant leukodystrophy,"[ADLD, Adult-onset autosomal dominant demyelinating leukodystrophy]","A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.",[169500],,,,,Autosomal dominant leukodystrophy with autonomic disease,TRUE,FALSE,Active +GARD:10588,Active,Orphanet+OMIM,OMIM:614816,Subtype of disorder,[Disease subtype],Loeys-dietz syndrome 4,"[Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations]",,[614816],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,Loeys-Dietz syndrome type 4,TRUE,FALSE,Active +GARD:10589,Legacy,GARD,,,,,,,,,,,,Loeys-Dietz syndrome type 2B,TRUE,FALSE,Retired +GARD:10590,Active,Orphanet,ORPHA:157801,Disorder,[Morphological anomaly],Mesoaxial synostotic syndactyly with phalangeal reduction,"[MSSD, Syndactyly type 9, Syndactyly, Malik-Percin type]","A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.",[609432],,,,,Syndactyly type 9,TRUE,FALSE,Active +GARD:10591,Active,Orphanet,ORPHA:250994,Disorder,[Malformation syndrome],1q21.1 microduplication syndrome,"[Dup(1)(q21.1), Trisomy 1q21.1]","1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.",[612475],,,,,Chromosome 1q21.1 duplication syndrome,TRUE,FALSE,Active +GARD:10592,Active,Orphanet,ORPHA:217346,Disorder,[Malformation syndrome],19q13.11 microdeletion syndrome,"[Del(19)(q13.11), Monosomy 19q13.11]","The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.",[613026],,,,,Chromosome 19q13.11 deletion syndrome,TRUE,FALSE,Active +GARD:10593,Active,Orphanet,ORPHA:217371,Disorder,[Disease],Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,[Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins],"A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.",[613070],,,,,Transient infantile liver failure,TRUE,FALSE,Active +GARD:10594,Active,Orphanet,ORPHA:217382,Disorder,[Disease],Neurodegenerative syndrome due to cerebral folate transport deficiency,,,[613068],,,,,Cerebral folate deficiency,TRUE,FALSE,Active +GARD:10595,Active,Orphanet,ORPHA:217266,Disorder,[Malformation syndrome],BNAR syndrome,[Bifid nose with or without anorectal and renal anomalies],"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).",[608980],,,,,Bifid nose with or without anorectal and renal anomalies,TRUE,FALSE,Active +GARD:10596,Legacy,GARD,,,,,,,,,,,,"Androgen insensitivity syndrome, mild",TRUE,FALSE,Active +GARD:10597,Active,Orphanet,ORPHA:99429,Disorder,[Disease],Complete androgen insensitivity syndrome,"[CAIS, Complete androgen resistance syndrome]","Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.",[300068],,,,,Complete androgen insensitivity syndrome,TRUE,FALSE,Active +GARD:10598,Legacy,GARD,,,,,,,,,,,,Carotid body tumor,TRUE,FALSE,Active +GARD:10599,Legacy,GARD,,,,,,,,,,,,Glomus jugulare tumors,TRUE,FALSE,Active +GARD:106,Active,Orphanet,ORPHA:1647,Disorder,[Malformation syndrome],Oculocerebrocutaneous syndrome,"[Delleman syndrome, Delleman-Oorthuys syndrome, Leichtman-Wood-Rohn syndrome, OCCS, Orbital cyst with cerebral and focal dermal malformations]","A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.",[164180],,,,,Oculocerebrocutaneous syndrome,TRUE,FALSE,Active +GARD:1060,Legacy,GARD,,,,,,,,,,,,Cataract-microcephaly-failure to thrive-kyphoscoliosis,TRUE,FALSE,Retired +GARD:10601,Draft,GARD,,Subtype of disorder,[Disease],"Pituitary hormone deficiency, combined 1",,"Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL; 176760), and thyroid-stimulating hormone (TSH; see 188540), while the production of adrenocorticotrophic hormone (ACTH; see 176830), luteinizing hormone (LH; 152780), and follicle-stimulating hormone (FSH; 136530) are preserved (Wu et al., 1998). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992).Genetic Heterogeneity of Combined Pituitary Hormone DeficiencyCPHD2 (262600), associated with hypogonadism, is caused by mutation in the PROP1 gene (601538). CPHD3 (221750), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene (600577). CPHD4 (262700) is caused by mutation in the LHX4 gene (602146). CPHD5 (see septooptic dysplasia, 182230) is caused by mutation in the HESX1 gene (601802). CPHD6 (613986) is caused by mutation in the OTX2 gene (600037).",[613038],[95494],"[Combined pituitary hormone deficiencies, genetic forms]",[10602],,"Pituitary hormone deficiency, combined 1",TRUE,FALSE,Active +GARD:10602,Active,Orphanet,ORPHA:95494,Disorder,[Disease],"Combined pituitary hormone deficiencies, genetic forms","[Familial congenital hypopituitarism, Multiple pituitary hormone deficiencies, genetic forms]","Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.","[182230, 613986, 262600]",,,,,"Combined pituitary hormone deficiencies, genetic forms",TRUE,FALSE,Active +GARD:10603,Active,Orphanet,ORPHA:231720,Disorder,[Malformation syndrome],Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,[Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome],"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.",[221750],,,,,"Pituitary hormone deficiency, combined 3",TRUE,FALSE,Active +GARD:10604,Active,Orphanet,ORPHA:85442,Disorder,[Disease],Short stature-pituitary and cerebellar defects-small sella turcica syndrome,,"Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).",[262700],,,,,"Pituitary hormone deficiency, combined 4",TRUE,FALSE,Active +GARD:10605,Active,Orphanet,ORPHA:63446,Disorder,[Malformation syndrome],Acrocapitofemoral dysplasia,,"A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.",[607778],,,,,Acrocapitofemoral dysplasia,TRUE,FALSE,Active +GARD:10606,Legacy,GARD,,,,,,,,,,,,"Dwarfism, proportionate with hip dislocation",TRUE,FALSE,Active +GARD:10607,Legacy,GARD,,,,,,,,,,,,Pituitary dwarfism with large sella turcica,TRUE,FALSE,Active +GARD:10608,Active,Orphanet,ORPHA:56305,Disorder,[Malformation syndrome],Atelosteogenesis type III,"[AO3, AOIII, Atelosteogenesis type 3]",A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.,[108721],,,,,Atelosteogenesis type 3,TRUE,FALSE,Active +GARD:10609,Active,Orphanet,ORPHA:73273,Disorder,[Disease],Growth delay due to insulin-like growth factor I resistance,[Resistance to IGF-1],"Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).",[270450],,,,,Insulin-like growth factor 1 resistance to,TRUE,FALSE,Active +GARD:1061,Active,Orphanet,ORPHA:1318,Disorder,[Malformation syndrome],"Campomelia, Cumming type",,"Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.",[211890],,,,,Campomelia Cumming type,TRUE,FALSE,Active +GARD:10610,Legacy,GARD,,,,,,,,,,,,Dwarfism familial with muscle spasms,TRUE,FALSE,Active +GARD:10611,Active,Orphanet,ORPHA:156728,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, matrilin-3 type","[SEMD, MATN3-related, SEMD, matrilin-3 type]","A rare primary bone dysplasia due to matrilin-3 varaints and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.",[608728],,,,,Spondyloepimetaphyseal dysplasia Matrilin-3 related,TRUE,FALSE,Active +GARD:10612,Active,Orphanet,ORPHA:1803,Disorder,[Disease],Thoracomelic dysplasia,"[Rivera-Perez-Salas syndrome, Thoracolimb dysplasia, Rivera type]","Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.",[273740],,,,,Thoracomelic dysplasia,TRUE,FALSE,Retired +GARD:10613,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia calcificans metaphysealis,TRUE,FALSE,Active +GARD:10614,Active,Orphanet,ORPHA:139399,Subtype of disorder,[Clinical subtype],Adrenomyeloneuropathy,,"A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood.",[300100],,,,,Adrenomyeloneuropathy,TRUE,FALSE,Active +GARD:10615,Active,Orphanet+OMIM,OMIM:610655,Subtype of disorder,[Disease subtype],"Telangiectasia, hereditary hemorrhagic, type 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of hereditary hemorrhagic telangiectasia (HHT), see HHT1 ({187300}).",[610655],[774],[Hereditary hemorrhagic telangiectasia],[6626],,Hereditary hemorrhagic telangiectasia type 4,TRUE,FALSE,Active +GARD:10616,Active,Orphanet,ORPHA:93358,Disorder,[Disease],Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,,"Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.",[271665],,,,,Spondylometaepiphyseal dysplasia short limb-hand type,TRUE,FALSE,Active +GARD:10617,Active,Orphanet,ORPHA:519384,Disorder,[Morphological anomaly],Congenital cystic eye,[Congenital anophthalmos with cyst],"A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is composed of connective tissue lined by neuroglial material. The defect is usually unilateral and may be an isolated finding or occur in association with intra- or extraocular malformations.",,,,,,Congenital cystic eye,TRUE,FALSE,Active +GARD:10618,Active,Orphanet,ORPHA:93356,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Missouri type","[SEMD type 2, SEMD, Missouri type, Spondyloepimetaphyseal dysplasia type 2]","Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.",[602111],,,,,Spondyloepimetaphyseal dysplasia Missouri type,TRUE,FALSE,Active +GARD:10619,Active,Orphanet+OMIM,OMIM:259440,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type ix","[Oi, type ix]","Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by {6:van Dijk et al., 2009}).",[259440],"[216820, 216804, 216812]","[Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[10142, 8695, 8696]",,Osteogenesis imperfecta type IX,TRUE,FALSE,Active +GARD:1062,Active,Orphanet,ORPHA:1319,Disorder,[Malformation syndrome],Camptobrachydactyly,,"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.",[114150],,,,,Camptobrachydactyly,TRUE,FALSE,Active +GARD:10620,Active,Orphanet,ORPHA:178355,Disorder,[Disease],Smith-McCort dysplasia,,"Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.","[607326, 615222]",,,,,Smith McCort dysplasia,TRUE,FALSE,Active +GARD:10621,Legacy,GARD,,,,,,,,,,,,Genochondromatosis,TRUE,FALSE,Active +GARD:10622,Legacy,GARD,,,,,,,,,,,,Metaphyseal dysplasia without hypotrichosis,TRUE,FALSE,Active +GARD:10623,Active,Orphanet+OMIM,OMIM:216330,Subtype of disorder,[Malformation syndrome subtype],"Cleidocranial dysplasia, recessive form",,{1:Goodman et al. (1975)} described 2 families in which offspring of unaffected consanguineous parents had a particularly severe form of cleidocranial dysplasia. Spinal anomalies were present and the affected persons were dwarfed.,[216330],[1452],[Cleidocranial dysplasia],[6118],,Cleidocranial dysplasia recessive form,TRUE,FALSE,Active +GARD:10624,Active,Orphanet,ORPHA:93284,Disorder,[Disease],Spondyloepiphyseal dysplasia tarda,,"Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.","[184100, 271600, 313400]",,,,,Autosomal dominant spondyloepiphyseal dysplasia tarda,TRUE,FALSE,Active +GARD:10625,Active,Orphanet+OMIM,OMIM:613789,Subtype of disorder,[Disease subtype],"Complement component 8 deficiency, type ii","[c8 beta deficiency, C8 deficiency, type ii, complement component 8b deficiency, c8b deficiency]","Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years ({6:Ross and Densen, 1984}).\n\nTwo types of inherited C8 deficiency have been reported in humans: type I ({613790}), in which only C8 alpha (C8A, {120950}) and C8 gamma (C8G; {120930}) are deficient, and type II, in which only C8 beta is deficient ({2:Marcus et al., 1982}; {9:Tedesco et al., 1983}). The 2 types are clinically indistinguishable ({6:Ross and Densen, 1984}).",[613789],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,Complement component 8 deficiency type 2,TRUE,FALSE,Active +GARD:10626,Active,Orphanet+OMIM,OMIM:613790,Subtype of disorder,[Disease subtype],"Complement component 8 deficiency, type i","[C8 deficiency, type i, c8ag deficiency, c8 alpha-gamma deficiency]","Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years ({8:Ross and Densen, 1984}).\n\nTwo kinds of inherited C8 deficiency have been reported in humans: type I, in which only C8 alpha and C8 gamma are deficient, and type II ({613789}), in which only C8 beta (C8B; {120960}) is deficient ({4:Marcus et al., 1982}; {9:Tedesco et al., 1983}). The 2 types are clinically indistinguishable ({8:Ross and Densen, 1984}).",[613790],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,Complement component 8 deficiency type 1,TRUE,FALSE,Active +GARD:10627,Active,Orphanet,ORPHA:73272,Disorder,[Disease],Growth delay due to insulin-like growth factor type 1 deficiency,"[Growth delay-deafness-intellectual disability syndrome, Growth delay-hearing loss-intellectual disability syndrome, IGF-1 deficiency, Primary insulin-like growth factor deficiency]",Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.,[608747],,,,,Insulin-like growth factor I deficiency,TRUE,FALSE,Active +GARD:10628,Legacy,GARD,,,,,,,,,,,,XFE progeroid syndrome,TRUE,FALSE,Active +GARD:10629,Active,Orphanet,ORPHA:163654,Disorder,[Disease],Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome,"[SED-BDS, Tattoo dysplasia]","Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).",[611717],,,,,Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech,TRUE,FALSE,Active +GARD:1063,Active,Orphanet,ORPHA:1320,Disorder,[Morphological anomaly],Idiopathic camptocormia,"[Idiopathic camptocormism, Idiopathic progressive lumbar kyphosis]","Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.",,,,,,Camptocormism,TRUE,FALSE,Active +GARD:10630,Active,Orphanet,ORPHA:92050,Disorder,[Disease],Congenital tufting enteropathy,"[IED, Intestinal epithelial dysplasia, Non-syndromic congenital tufting enteropathy]",Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.,[613217],,,,,Tufting enteropathy,TRUE,FALSE,Active +GARD:10631,Active,Orphanet,ORPHA:251607,Disorder,[Disease],Pleomorphic xanthoastrocytoma,[PXA],"A rare low-grade astrocytoma characterized by superficial location in the cerebral hemispheres with involvement of the meninges, composed of GFAP-expressing cells showing nuclear and cytoplasmic pleomorphism and xanthomatous change, surrounded by a reticulin network. The tumor corresponds to WHO grade II and typically affects children and young adults, who often present with a long history of seizures. Extent of resection and mitotic index are important prognostic factors.",,,,,,Pleomorphic xanthoastrocytoma,TRUE,FALSE,Active +GARD:10632,Active,Orphanet,ORPHA:251618,Disorder,[Disease],Subependymal giant cell astrocytoma,[SEGA],"A rare low-grade astrocytoma characterized by a benign, slowly growing lesion typically arising in the wall of the lateral ventricles, composed of large ganglioid astrocytes. The tumor corresponds to WHO grade I and typically occurs during the first two decades of life in patients with tuberous sclerosis complex. Most patients present with worsening of epilepsy or symptoms of increased intracranial pressure.",,,,,,Subependymal giant cell astrocytoma,TRUE,FALSE,Active +GARD:10633,Active,Orphanet,ORPHA:251643,Disorder,[Disease],Myxopapillary ependymoma,,"Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.",,,,,,Myxopapillary ependymoma,TRUE,FALSE,Active +GARD:10634,Active,Orphanet,ORPHA:251646,Disorder,[Disease],Anaplastic ependymoma,,"A rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.",,,,,,Anaplastic ependymoma,TRUE,FALSE,Active +GARD:10635,Active,Orphanet,ORPHA:251679,Disorder,[Disease],Astroblastoma,,"A very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.",,,,,,Astroblastoma,TRUE,FALSE,Active +GARD:10636,Legacy,GARD,,,,,,,,,,,,Chordoid glioma of the third ventricle,TRUE,FALSE,Active +GARD:10637,Active,Orphanet,ORPHA:251663,Disorder,[Disease],Anaplastic oligoastrocytoma,[aMOA],"A rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor prognosis.",,,,,,Anaplastic oligoastrocytoma,TRUE,FALSE,Active +GARD:10638,Active,Orphanet,ORPHA:251937,Disorder,[Disease],Gangliocytoma,,"Gangliocytoma is a rare, mixed neuronal-glial tumor characterized by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported.",,,,,,Gangliocytoma,TRUE,FALSE,Active +GARD:10639,Active,Orphanet,ORPHA:251957,Disorder,[Disease],Anaplastic ganglioglioma,,"A rare mixed neuronal-glial tumor characterized by a mostly supratentorial space-occupying lesion often involving the temporal lobe, although it may occur anywhere in the central nervous system. The tumor shows anaplastic features in its glial component and is considered WHO grade III, which may, albeit inconsistently, indicate more aggressive behavior and less favorable prognosis. Clinical symptoms vary according to the location, the most common manifestation being seizures.",,,,,,Anaplastic ganglioglioma,TRUE,FALSE,Active +GARD:1064,Active,Orphanet,ORPHA:1321,Disorder,[Malformation syndrome],Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome,[Goodman camptodactyly],"An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.",[211930],,,,,"Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia",TRUE,FALSE,Active +GARD:10640,Active,Orphanet,ORPHA:251946,Disorder,[Disease],Dysembryoplastic neuroepithelial tumor,[DNET],"A rare mixed neuronal-glial tumor characterized by a benign, usually supratentorial lesion with predominantly cortical location and multinodular architecture. The tumor typically becomes symptomatic in the second or third decade of life with drug-resistant partial seizures. Histological hallmark is the specific glioneuronal element, columns oriented perpendicularly to the cortical surface, formed by bundles of axons attached to oligodendroglia-like cells, while neurons appear to float in an abundant eosinophilic matrix.",,,,,,Dysembryoplastic neuroepithelial tumor,TRUE,FALSE,Active +GARD:10641,Active,Orphanet,ORPHA:73256,Disorder,[Disease],Central neurocytoma,,"Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.",,,,,,Central neurocytoma,TRUE,FALSE,Active +GARD:10642,Active,Orphanet,ORPHA:251931,Disorder,[Disease],Cerebellar liponeurocytoma,,"Cerebellar liponeurocytoma (cLPN) is a rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence.",,,,,,Cerebellar liponeurocytoma,TRUE,FALSE,Active +GARD:10643,Active,Orphanet,ORPHA:97286,Disorder,[Disease],Carney-Stratakis syndrome,"[Carney dyad, Carney-Stratakis dyad, GIST-paraganglioma dyad, Paraganglioma and gastric stromal sarcoma]","Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.",[606864],,,,,Paraganglioma and gastric stromal sarcoma,TRUE,FALSE,Active +GARD:10644,Active,Orphanet,ORPHA:251919,Disorder,[Disease],Pineal parenchymal tumor of intermediate differenciation,,"A rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID (pineal parenchymal tumor of intermediate differentiation) or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.",,,,,,Pineal parenchymal tumors of intermediate differentiation,TRUE,FALSE,Active +GARD:10645,Active,Orphanet,ORPHA:93623,Subtype of disorder,[Clinical subtype],Dent disease type 2,,"A rare genetic renal tubular disease, characterized by manifestations of proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is frequent, but may be mild and not recognized.",[300555],,,,,Dent disease 2,TRUE,FALSE,Retired +GARD:10646,Legacy,GARD,,,,,,,,,,,,Teratoma with malignant transformation,TRUE,FALSE,Active +GARD:10647,Active,Orphanet,ORPHA:85167,Disorder,[Disease],Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,[SMD-CRD],"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.",[608940],,,,,Spondylometaphyseal dysplasia with cone-rod dystrophy,TRUE,FALSE,Active +GARD:10648,Active,Orphanet+OMIM,OMIM:610024,Subtype of disorder,[Disease subtype],Retinal cone dystrophy 3a,"[Cone dystrophy with night blindness and supernormal rod responses, pde6h-related]",,[610024],[49382],[Achromatopsia],[15015],,Retinal cone dystrophy 3A,TRUE,FALSE,Active +GARD:10649,Active,Orphanet,ORPHA:209932,Disorder,[Disease],Cone dystrophy with supernormal rod response,"[Cone dystrophy with supernormal rod ERG, Cone dystrophy with supernormal rod electroretinogram, Cone dystrophy with supernormal scotopic electroretinogram]","Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.",[610356],,,,,Retinal cone dystrophy 3B,TRUE,FALSE,Active +GARD:1065,Legacy,GARD,,,,,,,,,,,,Camptodactyly joint contractures and facial skeletal dysplasia,TRUE,FALSE,Retired +GARD:10650,Active,Orphanet+OMIM,OMIM:610478,Subtype of disorder,[Disease subtype],Retinal cone dystrophy 4,,,[610478],[1872],[Cone rod dystrophy],[10790],,Retinal cone dystrophy 4,TRUE,FALSE,Active +GARD:10651,Active,Orphanet+OMIM,OMIM:600624,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 1,,"For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see {120970}.",[600624],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 1,TRUE,FALSE,Active +GARD:10652,Active,Orphanet+OMIM,OMIM:304020,Subtype of disorder,[Disease subtype],"Cone-rod dystrophy, x-linked, 1",,"X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors ({5:Demirci et al., 2002}). Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings ({10:Hong et al., 1994}).\n\n<Subhead> Genetic Heterogeneity of X-linked Cone-Rod Dystrophy\n\nAdditional forms of X-linked cone-rod dystrophy include CORDX2 ({300085}), mapped to chromosome Xq27, and CORDX3 ({300476}), caused by mutation in the CACNA1F gene ({300110}) on chromosome Xp11.23.\n\nFor a discussion of autosomal forms of cone-rod dystrophy, see CORD2 ({120970}).",[304020],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy X-linked 1,TRUE,FALSE,Active +GARD:10653,Active,Orphanet+OMIM,OMIM:604116,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 3,,"Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by {6:Klevering et al., 2002} and {3:Ducroq et al., 2002}). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced ({5:Fishman et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see {120970}.",[604116],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 3,TRUE,FALSE,Active +GARD:10654,Active,Orphanet+OMIM,OMIM:300476,Subtype of disorder,[Disease subtype],"Cone-rod dystrophy, x-linked, 3",,"Cone-rod dystrophy is a retinal disorder with predominantly cone involvement. Rod impairment may occur at the same time as the cone impairment or appear later. Patients with CORD usually have reduced visual acuity, photophobia, and color vision defects (summary by {3:Huang et al., 2013}).\n\nFor a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see {304020}.",[300476],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy X-linked 3,TRUE,FALSE,Active +GARD:10655,Active,Orphanet+OMIM,OMIM:600977,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 5,,"Cone-rod dystrophy-5 (CORD5) is characterized by reduced visual acuity, photophobia, and defective color vision. Most patients experience onset of symptoms in early childhood, with progression to legal blindness by early adulthood, although some patients exhibit a milder phenotype, with onset in the fourth or fifth decade of life ({3:Kohn et al., 2007}; {4:Reinis et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see {120970}.",[600977],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 5,TRUE,FALSE,Active +GARD:10656,Active,Orphanet+OMIM,OMIM:601777,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 6,[Retinal cone dystrophy 2],,[601777],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 6,TRUE,FALSE,Active +GARD:10657,Active,Orphanet+OMIM,OMIM:125851,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 2","[mody, glucokinase-related, Mody, type 2]","MODY is a form of NIDDM ({125853}) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see {606391}.\n\nIn a review of the various forms of MODY, {2:Fajans et al. (2001)} stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene. Heterozygous mutations in glucokinase are associated with a mild form of nonprogressive hyperglycemia that is usually asymptomatic at diagnosis and is treated with diet alone. The mild fasting hyperglycemia with blood glucose concentrations of 110 to 145 mg/deciliter and impaired glucose tolerance in most affected carriers may be recognized by biochemical testing at a young age, possibly as early as birth. About 50% of the women who are carriers may have gestational diabetes. Less than 50% of the carriers have overt diabetes; many of those who do are obese or elderly. Two percent of MODY2 patients require insulin therapy. Diabetes-associated complications are rare in this form of MODY. MODY was found in 13% of the Caucasian NIDDM families collected in France by {4:Froguel et al. (1991)}. {5:Gidh-Jain et al. (1993)} found that GCK mutations accounted for 56% of MODY families in France.",[125851],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 2",TRUE,FALSE,Active +GARD:10658,Active,Orphanet+OMIM,OMIM:600496,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 3","[Mody, type 3]","MODY is a form of familial noninsulin-dependent diabetes mellitus (T2D; {125853}) and is characterized by an early age of onset (childhood, adolescence, or young adulthood under 25 years) and autosomal dominant inheritance.\n\nFor a phenotypic description and discussion of genetic heterogeneity of MODY, see {606391}.",[600496],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 3",TRUE,FALSE,Active +GARD:10659,Active,Orphanet+OMIM,OMIM:606392,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 4","[Mody, type 4]",,[606392],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 4",TRUE,FALSE,Active +GARD:10660,Active,Orphanet+OMIM,OMIM:606394,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 6","[Mody, type 6]",,[606394],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 6",TRUE,FALSE,Active +GARD:10661,Active,Orphanet+OMIM,OMIM:610508,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 7",,,[610508],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 7",TRUE,FALSE,Active +GARD:10662,Active,Orphanet+OMIM,OMIM:609812,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 8, with exocrine dysfunction","[Diabetes and pancreatic exocrine dysfunction, diabetes-pancreatic exocrine dysfunction syndrome]","Maturity-onset diabetes of the young type 8 (MODY8) is characterized by onset of diabetes before age 25 years, with slowly progressive pancreatic exocrine dysfunction, fatty replacement of pancreatic parenchyma (lipomatosis), and development of pancreatic cysts. Patients do not present clinical signs of chronic pancreatitis (summary by {3:Johansson et al., 2018}).\n\nFor a phenotypic description and discussion of genetic heterogeneity of MODY, see {606391}.",[609812],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 8",TRUE,FALSE,Active +GARD:10663,Active,Orphanet+OMIM,OMIM:612225,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 9",,,[612225],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 9",TRUE,FALSE,Active +GARD:10664,Active,Orphanet,ORPHA:443084,Disorder,[Clinical syndrome],Baroreflex failure,,"A rare autonomic nervous system disorder characterized by diminished or absent buffering capability to prevent blood pressure from rising or falling excessively, due to abnormalities in the vascular baroreceptors, the glossopharyngeal or vagal nerves, or the brain stem. Typical clinical presentations are acute severe sustained hypertension, tachycardia, and headache, or volatile hypertension and tachycardia with headache, diaphoresis, flushing, and emotional instability. Rare cases rather present with hypotension, bradycardia, and dizziness or syncope.",,,,,,Baroreflex failure,TRUE,FALSE,Active +GARD:10665,Legacy,GARD,,,,,,,,,,,,Familial bilateral striatal necrosis,TRUE,FALSE,Active +GARD:10666,Legacy,GARD,,,,,,,,,,,,Dihydroxyadeninuria,TRUE,FALSE,Active +GARD:10667,Active,Orphanet,ORPHA:329466,Disorder,[Disease],"Autosomal dominant focal dystonia, DYT25 type","[DYT25, Dystonia 25]","A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia.",[615073],,,,,DYT-GNAL,TRUE,FALSE,Active +GARD:10668,Legacy,GARD,,,,,,,,,,,,Cervical dystonia,TRUE,FALSE,Active +GARD:10669,Legacy,GARD,,,,,,,,,,,,Double inferior vena cava,FALSE,FALSE,Active +GARD:1067,Active,Orphanet,ORPHA:1327,Disorder,[Malformation syndrome],"Camptodactyly syndrome, Guadalajara type 1",,"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.",[211910],,,,,Camptodactyly syndrome Guadalajara type 1,TRUE,FALSE,Active +GARD:10670,Active,Orphanet,ORPHA:309279,Group of disorders,[Category],Glycoproteinosis,,,,,,,,Glycoproteinosis,TRUE,FALSE,Active +GARD:10671,Legacy,GARD,,,,,,,,,,,,Mucoepidermoid carcinoma,TRUE,FALSE,Active +GARD:10672,Legacy,GARD,,,,,,,,,,,,ALS-like syndrome of encephalomyopathy,TRUE,FALSE,Retired +GARD:10673,Legacy,GARD,,,,,,,,,,,,Cardioencephalomyopathy,TRUE,FALSE,Active +GARD:10674,Legacy,GARD,,,,,,,,,,,,Metachromatic leukodystrophy due to saposin B deficiency,TRUE,FALSE,Active +GARD:10675,Active,Orphanet,ORPHA:85212,Subtype of disorder,[Clinical subtype],Fetal Gaucher disease,[Perinatal lethal Gaucher disease],Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).,[608013],,,,,Gaucher disease perinatal lethal,TRUE,FALSE,Active +GARD:10676,Legacy,GARD,,,,,,,,,,,,Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema,TRUE,FALSE,Retired +GARD:10679,Active,Orphanet,ORPHA:88950,Subtype of disorder,[Clinical subtype],UMOD-related autosomal dominant tubulointerstitial kidney disease,"[ADTKD-UMOD, Familial juvenile hyperuricemic nephropathy type 1, MCKD2, Medullary cystic kidney disease type 2, UMOD-related ADTKD, Uromodulin-associated kidney disease]",,[162000],,,,,Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations,TRUE,FALSE,Active +GARD:1068,Active,Orphanet,ORPHA:1326,Disorder,[Malformation syndrome],"Camptodactyly syndrome, Guadalajara type 2",,"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.",[211920],,,,,Camptodactyly syndrome Guadalajara type 2,TRUE,FALSE,Active +GARD:10680,Active,Orphanet,ORPHA:94089,Disorder,[Disease],Pseudohypoparathyroidism type 1B,,"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.",[603233],,,,,Pseudohypoparathyroidism type 1B,TRUE,FALSE,Active +GARD:10681,Active,Orphanet,ORPHA:79444,Disorder,[Disease],Pseudohypoparathyroidism type 1C,,"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).",[612462],,,,,Pseudohypoparathyroidism type 1C,TRUE,FALSE,Active +GARD:10682,Active,Orphanet,ORPHA:94090,Disorder,[Disease],Pseudohypoparathyroidism type 2,,"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.",[203330],,,,,Pseudohypoparathyroidism type 2,TRUE,FALSE,Active +GARD:10683,Legacy,GARD,,,,,,,,,,,,Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features,TRUE,FALSE,Retired +GARD:10684,Active,Orphanet,ORPHA:35689,Disorder,[Disease],Primary lateral sclerosis,"[Adult-onset PLS, Adult-onset primary lateral sclerosis, PLS]","Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.",[611637],,,,,Primary lateral sclerosis,TRUE,FALSE,Active +GARD:10685,Legacy,GARD,,,,,,,,,,,,Chilaiditi syndrome,TRUE,FALSE,Active +GARD:10686,Active,Orphanet,ORPHA:157846,Disorder,[Disease],Neuroferritinopathy,"[Adult basal ganglia disease, Ferritin-related neurodegeneration, Hereditary ferritinopathy]",Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.,[606159],,,,,Neuroferritinopathy,TRUE,FALSE,Active +GARD:10687,Legacy,GARD,,,,,,,,,,,,Mungan syndrome,TRUE,FALSE,Active +GARD:10688,Active,Orphanet+OMIM,OMIM:610217,Subtype of disorder,[Disease subtype],Neurodegeneration with brain iron accumulation 2b,"[neuroaxonal dystrophy, atypical, Neurodegeneration with brain iron accumulation, pla2g6-related]",,[610217],[35069],[Infantile neuroaxonal dystrophy],[3957],,Karak syndrome,TRUE,FALSE,Active +GARD:10689,Legacy,GARD,,,,,,,,,,,,Megarbane Jalkh syndrome,TRUE,FALSE,Active +GARD:1069,Active,Orphanet,ORPHA:1325,Disorder,[Malformation syndrome],Camptodactyly-taurinuria syndrome,[Familial streblodactyly with amino-aciduria],"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.",,,,,,Camptodactyly taurinuria,TRUE,FALSE,Active +GARD:10690,Legacy,GARD,,,,,,,,,,,,Macular telangiectasia type 2,FALSE,FALSE,Active +GARD:10691,Active,Orphanet+OMIM,OMIM:617041,Subtype of disorder,[Malformation syndrome subtype],Duane retraction syndrome 3 with or without deafness,,"Duane retraction syndrome is the most common congenital disorder of cranial dysinnervation, with a prevalence of 1 in 1,000 individuals. Affected individuals have limited unilateral or bilateral horizontal eye movement, accompanied by globe retraction and palpebral fissure narrowing on attempted adduction (movement of the eye inward, toward the nose). DURS can be classified into 3 types: type 1, the most common, involves limited abduction (movement of the eye outward toward the ear); type 2, the least common, involves limited adduction; and type 3 involves limitation of both abduction and adduction. MRI and postmortem examination of patients with DURS have shown absence or hypoplasia of the abducens nerve, which normally innervates the lateral rectus (LR) extraocular muscle to abduct the eye, as well as aberrant LR muscle innervation by axons of the oculomotor nerve, which normally innervates the medial, inferior, and superior rectus and inferior oblique extraocular muscles (summary by {1:Park et al., 2016}).\n\nFor a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 ({126800}).",[617041],[233],[Duane retraction syndrome],[6288],,Duane syndrome type 3,TRUE,FALSE,Retired +GARD:10692,Active,Orphanet,ORPHA:140997,Group of disorders,[Clinical group],Orofaciodigital syndrome,"[OFD, Oral-facial-digital syndrome]",,,,,,,Orofaciodigital syndromes,TRUE,FALSE,Active +GARD:10693,Active,Orphanet,ORPHA:141327,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 12,"[Moran-Barroso syndrome, OFD12, Oral-facial-digital syndrome type 12]","Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.",,,,,,Orofaciodigital syndrome 12,TRUE,FALSE,Active +GARD:10694,Active,Orphanet,ORPHA:141330,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 13,"[Degner syndrome, OFD13, Oral-facial-digital syndrome type 13]","Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.",,,,,,Orofaciodigital syndrome 13,TRUE,FALSE,Active +GARD:10695,Active,Orphanet,ORPHA:99106,Subtype of disorder,[Clinical subtype],"Atrial septal defect, ostium primum type","[ASD, ostium primum type]",,,,,,,Atrial septal defect ostium primum,TRUE,FALSE,Active +GARD:10696,Active,Orphanet,ORPHA:99105,Subtype of disorder,[Clinical subtype],"Atrial septal defect, sinus venosus type","[ASD, sinus venosus type]",,,,,,,Atrial septal defect sinus venosus,TRUE,FALSE,Active +GARD:10697,Active,Orphanet,ORPHA:99104,Subtype of disorder,[Clinical subtype],"Atrial septal defect, coronary sinus type","[ASD, coronary sinus type, Unroofed coronary sinus]",,,,,,,Atrial septal defect coronary sinus,TRUE,FALSE,Active +GARD:10698,Active,Orphanet+OMIM,OMIM:605275,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 2,"[Noonan syndrome, autosomal recessive]","Noonan syndrome (NS) is a multiple congenital anomalies syndrome characterized by a typical face, congenital heart disease, and short stature (summary by {5:van der Burgt and Brunner, 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[605275],[648],[Noonan syndrome],[10955],,Noonan syndrome 2,TRUE,FALSE,Active +GARD:10699,Active,Orphanet+OMIM,OMIM:610733,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 4,,"Noonan syndrome-4 (NS4) is an autosomal dominant disorder characterized by a variable phenotype comprising short stature, congenital heart defects, and facial dysmorphisms (summary by {1:Ferrero et al., 2008}). Patients often have ectodermal anomalies, such as keratitis pilaris, curly hair, and ocular ptosis ({5:Tartaglia et al., 2007}; {8:Zenker et al., 2007}).",[610733],[648],[Noonan syndrome],[10955],,Noonan syndrome 4,TRUE,FALSE,Active +GARD:107,Legacy,GARD,,,,,,,,,,,,"Pneumonia, eosinophilic",TRUE,FALSE,Retired +GARD:1070,Legacy,GARD,,,,,,,,,,,,Camptodactyly vertebral fusion,TRUE,FALSE,Active +GARD:10700,Active,Orphanet+OMIM,OMIM:611553,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 5,,,[611553],[648],[Noonan syndrome],[10955],,Noonan syndrome 5,TRUE,FALSE,Active +GARD:10701,Active,Orphanet+OMIM,OMIM:613224,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 6,,,[613224],[648],[Noonan syndrome],[10955],,Noonan syndrome 6,TRUE,FALSE,Active +GARD:10702,Legacy,GARD,,,,,,,,,,,,Gestational diabetes insipidus,TRUE,FALSE,Active +GARD:10703,Legacy,GARD,,,,,,,,,,,,Dipsogenic diabetes insipidus,TRUE,FALSE,Active +GARD:10704,Active,Orphanet,ORPHA:2254,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 1,"[Norman disease, PCH1]","A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing","[614678, 618065, 619303, 619304, 616081, 607596]",,,,,Pontocerebellar hypoplasia type 1,TRUE,FALSE,Active +GARD:10705,Active,Orphanet,ORPHA:2524,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 2,[PCH2],"A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking.","[617026, 613811, 612389, 612390, 277470]",,,,,Pontocerebellar hypoplasia type 2,TRUE,FALSE,Active +GARD:10706,Active,Orphanet,ORPHA:309854,Disorder,[Disease],Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,,"A rare disorder of manganese transport characterized by childhood onset of extrapyramidal movement disorder (including dystonia, tremor, and bradykinesia), liver cirrhosis, polycythemia, and hypermanganesemia. Cases with spastic paraparesis without extrapyramidal dysfunction have also been reported. Cognitive functions are preserved. Brain imaging findings are consistent with deposition of manganese in the basal ganglia, dentate nucleus, brain stem, and anterior pituitary.",[613280],,,,,Hypermanganesemia with dystonia polycythemia and cirrhosis,TRUE,FALSE,Active +GARD:10707,Active,Orphanet,ORPHA:90024,Disorder,[Malformation syndrome],"Deafness with labyrinthine aplasia, microtia, and microdontia","[Hearing loss with labyrinthine aplasia, microtia, and microdontia, LAMM syndrome, Microdontia-type I microtia-deafness syndrome, Microdontia-type I microtia-hearing loss syndrome]","Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.",[610706],,,,,Deafness with labyrinthine aplasia microtia and microdontia (LAMM),TRUE,FALSE,Active +GARD:10708,Active,Orphanet,ORPHA:97249,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 3,"[Cerebellar atrophy with progressive microcephaly, PCH3]","A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent.",[608027],,,,,Pontocerebellar hypoplasia type 3,TRUE,FALSE,Active +GARD:10709,Legacy,GARD,,,,,,,,,,,,Pontocerebellar hypoplasia type 5,TRUE,FALSE,Active +GARD:1071,Active,Orphanet+OMIM,OMIM:211990,Subtype of disorder,[Malformation syndrome subtype],"Camptomelic syndrome, long-limb type","[Campomelic syndrome, long-limb type]",,[211990],[140],[Campomelic dysplasia],[10027],,Camptomelic syndrome long limb type,TRUE,FALSE,Active +GARD:10710,Active,Orphanet,ORPHA:166073,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 6,"[Fatal infantile encephalopathy with mitochondrial respiratory chain defects, PCH6]","A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis.",[611523],,,,,Pontocerebellar hypoplasia type 6,TRUE,FALSE,Active +GARD:10711,Active,Orphanet,ORPHA:98497,Group of disorders,[Category],Genetic peripheral neuropathy,,,,,,,,Genetic peripheral neuropathy,TRUE,FALSE,Retired +GARD:10712,Legacy,GARD,,,,,,,,,,,,Progressive transformation of germinal centers,TRUE,FALSE,Active +GARD:10713,Active,Orphanet,ORPHA:60039,Disorder,[Disease],Pudendal neuralgia,"[Alcock syndrome, Pudendal algia, Pudendal nerve entrapment syndrome, Pudendal neuralgia by pudendal nerve entrapment, Pudendalgia]","A rare, acquired peripheral neuropathy disease characterized by chronic neuropathic pain involving the sensory territory of the pudendal nerve (from clitoris to anus or from penis to anus), aggravated by sitting and for which no organic cause can be found by imaging studies or laboratory tests. It is often associated with pelvic dysfunction.",,,,,,Pudendal Neuralgia,TRUE,FALSE,Active +GARD:10714,Active,Orphanet,ORPHA:137605,Disorder,[Malformation syndrome],Legius syndrome,"[NF1-like syndrome, Neurofibromatosis 1-like syndrome]","Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.",[611431],,,,,Legius syndrome,TRUE,FALSE,Active +GARD:10715,Legacy,GARD,,,,,,,,,,,,Diploid-triploid mosaicism,TRUE,FALSE,Active +GARD:10716,Active,Orphanet,ORPHA:391417,Disorder,[Disease],HSD10 disease,"[2-methyl-3-hydroxybutyric aciduria, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, HSD10 deficiency, MHBD deficiency]","HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.",[300438],,,,,HSD10 disease,TRUE,FALSE,Active +GARD:10717,Legacy,GARD,,,,,,,,,,,,Hydroxyprolinemia,TRUE,FALSE,Active +GARD:10718,Legacy,GARD,,,,,,,,,,,,Heinz body anemias,TRUE,FALSE,Active +GARD:10719,Active,Orphanet,ORPHA:2701,Disorder,[Malformation syndrome],Noonan syndrome-like disorder with loose anagen hair,"[Mazzanti syndrome, NS/LAH]","A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichtyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.","[617506, 607721]",,,,,Noonan-like syndrome with loose anagen hair,TRUE,FALSE,Active +GARD:1072,Active,Orphanet,ORPHA:1328,Disorder,[Malformation syndrome],Camurati-Engelmann disease,[Progressive diaphyseal dysplasia],"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.",[131300],,,,,Camurati-Engelmann disease,TRUE,FALSE,Active +GARD:10720,Legacy,GARD,,,,,,,,,,,,Trichuriasis,TRUE,FALSE,Active +GARD:10721,Legacy,GARD,,,,,,,,,,,,Kingella infections,TRUE,FALSE,Active +GARD:10722,Legacy,GARD,,,,,,,,,,,,Monkeypox,TRUE,FALSE,Active +GARD:10723,Legacy,GARD,,,,,,,,,,,,Pineal cyst,FALSE,FALSE,Retired +GARD:10724,Legacy,GARD,,,,,,,,,,,,Bone marrow necrosis,FALSE,FALSE,Active +GARD:10725,Legacy,GARD,,,,,,,,,,,,Odontogenic myxoma,TRUE,FALSE,Active +GARD:10726,Active,Orphanet+OMIM,OMIM:277300,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 1, autosomal recessive","[spondylothoracic dysplasia, Vertebral anomalies, spondylothoracic dysostosis, costovertebral dysplasia, jarcho-levin syndrome]","The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. The term 'spondylocostal dysostosis' is best applied to those phenotypes with generalized SDV and a broadly symmetric thoracic cage (summary by {18:Gucev et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Spondylocostal Dysostosis\n\nOther forms of SCDO include SCDO2 ({608681}), caused by mutation in the MESP2 gene ({605195}) on chromosome 15q26; SCDO3 ({609813}), caused by mutation in the LFNG gene ({602576}) on chromosome 7p22; SCDO4 ({613686}), caused by mutation in the HES7 gene ({608059}) on chromosome 17p13; SCDO5 ({122600}), caused by mutation in the TBX6 gene ({602427}) on chromosome 16p11; and SCDO6 ({616566}), caused by mutation in the RIPPLY2 gene ({609891}) on chromosome 6q14.",[277300],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 1,TRUE,FALSE,Active +GARD:10727,Active,Orphanet,ORPHA:96169,Disorder,[Malformation syndrome],Koolen-De Vries syndrome,[KdVS],"A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.",[610443],,,,,Koolen de Vries syndrome,TRUE,FALSE,Active +GARD:10728,Active,Orphanet,ORPHA:439854,Disorder,[Disease],Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,"[Fatal congenital hypertrophic cardiomyopathy due to GSD, Fatal congenital hypertrophic cardiomyopathy due to glycogenosis]","A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases.",[261740],,,,,Lethal congenital glycogen storage disease of the heart,FALSE,FALSE,Active +GARD:10729,Active,Orphanet,ORPHA:77293,Disorder,[Disease],Chronic visceral acid sphingomyelinase deficiency,"[Chronic visceral ASMD, NPD-B, Niemann-Pick disease type B]","A rare autosomal recessive, chronic, acid sphingomyelinase deficiency characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, interstitial lung disease and absence of neurodegenerative disorders.",[607616],,,,,Niemann-Pick disease type B,TRUE,FALSE,Active +GARD:10730,Active,Orphanet,ORPHA:79096,Disorder,[Disease],Pyridoxal phosphate-responsive seizures,"[PNPO deficiency, PNPO-related neonatal epileptic encephalopathy, Pyridoxal phosphate-dependent seizures, Pyridoxamine 5'-oxidase deficiency, Pyridoxamine 5'-phosphate oxidase deficiency]","A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.",[610090],,,,,Pyridoxal 5'-phosphate-dependent epilepsy,TRUE,FALSE,Active +GARD:10731,Active,Orphanet,ORPHA:59306,Disorder,[Disease],McLeod neuroacanthocytosis syndrome,"[MLS, X-linked McLeod syndrome]","McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.",[300842],,,,,McLeod neuroacanthocytosis syndrome,TRUE,FALSE,Active +GARD:10732,Active,Orphanet,ORPHA:542310,Disorder,[Disease],Leukoencephalopathy with calcifications and cysts,"[LCC, Labrune syndrome]","A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.",[614561],,,,,"Leukoencephalopathy, cerebral calcifications, and cysts",TRUE,FALSE,Active +GARD:10733,Legacy,GARD,,,,,,,,,,,,Intravascular papillary endothelial hyperplasia,TRUE,FALSE,Active +GARD:10734,Active,Orphanet,ORPHA:284343,Subtype of disorder,[Clinical subtype],Pleuropulmonary blastoma familial tumor susceptibility syndrome,"[DICER1 syndrome, PPB familial tumor susceptibility syndrome, PPBFTDS, Pleuro-pulmonary blastoma familial tumor susceptibility syndrome]",,[601200],,,,,DICER1-related pleuropulmonary blastoma cancer predisposition syndrome,TRUE,FALSE,Active +GARD:10737,Legacy,GARD,,,,,,,,,,,,Posner-Schlossman syndrome,TRUE,FALSE,Active +GARD:10738,Active,Orphanet,ORPHA:93600,Subtype of disorder,[Clinical subtype],Primary hyperoxaluria type 3,,,[613616],,,,,Primary hyperoxaluria type 3,TRUE,FALSE,Active +GARD:10739,Active,Orphanet,ORPHA:216,Group of disorders,[Clinical group],Neuronal ceroid lipofuscinosis,[NCL],"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.",,,,,,Neuronal ceroid lipofuscinosis,TRUE,FALSE,Active +GARD:10740,Active,Orphanet,ORPHA:261197,Disorder,[Malformation syndrome],Proximal 16p11.2 microdeletion syndrome,"[Proximal del(16)(p11.2), Proximal monosomy 16p11.2]","The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.",[611913],,,,,16p11.2 deletion syndrome,TRUE,FALSE,Active +GARD:10741,Active,Orphanet,ORPHA:99642,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Handigodu type",,"Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging.",[613343],,,,,"Spondyloepimetaphyseal dysplasia, Handigodu type",FALSE,FALSE,Active +GARD:10742,Legacy,GARD,,,,,,,,,,,,Madras motor neuron disease,FALSE,FALSE,Active +GARD:10743,Legacy,GARD,,,,,,,,,,,,Persistent genital arousal disorder,TRUE,FALSE,Active +GARD:10744,Active,Orphanet,ORPHA:617910,Disorder,[Disease],Conjunctival malignant melanoma,[Conjunctival melanoma],,,,,,,Conjunctival melanoma,TRUE,FALSE,Active +GARD:10745,Legacy,GARD,,,,,,,,,,,,Orbital melanoma,TRUE,FALSE,Retired +GARD:10746,Legacy,GARD,,,,,,,,,,,,Hemochromatosis,FALSE,FALSE,Active +GARD:10747,Legacy,GARD,,,,,,,,,,,,Lupus nephritis,TRUE,FALSE,Active +GARD:10748,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia,TRUE,FALSE,Active +GARD:10749,Legacy,GARD,,,,,,,,,,,,Chromhidrosis,TRUE,FALSE,Active +GARD:10750,Legacy,GARD,,,,,,,,,,,,Diffuse cavernous hemangioma of the rectum,TRUE,FALSE,Active +GARD:10751,Legacy,GARD,,,,,,,,,,,,Vitiligo,FALSE,FALSE,Active +GARD:10752,Active,Orphanet,ORPHA:304,Group of disorders,[Clinical group],Epidermolysis bullosa simplex,[EBS],A group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.,,,,,,Epidermolysis bullosa simplex,TRUE,FALSE,Active +GARD:10753,Active,Orphanet,ORPHA:2309,Disorder,[Disease],Pachyonychia congenita,[PC],"Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.","[167200, 260130, 615728, 615726, 167210]",,,,,Pachyonychia congenita,TRUE,FALSE,Active +GARD:10754,Active,Orphanet,ORPHA:353281,Subtype of disorder,[Etiological subtype],Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,,,[610543],,,,,Chromosome 16p13.3 deletion syndrome,TRUE,FALSE,Active +GARD:10755,Active,Orphanet,ORPHA:96078,Disorder,[Malformation syndrome],16p13.3 microduplication syndrome,"[Distal duplication 16p, Distal trisomy 16p, Dup(16)(p13.3), Telomeric duplication 16p, Trisomy 16pter]","16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.",[613458],,,,,Chromosome 16p13.3 duplication,TRUE,FALSE,Active +GARD:10756,Active,Orphanet,ORPHA:251,Group of disorders,[Clinical group],Multiple epiphyseal dysplasia,"[EDM, MED, Polyepiphyseal dysplasia]","A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.",,,,,,Multiple epiphyseal dysplasia,TRUE,FALSE,Active +GARD:10757,Legacy,GARD,,,,,,,,,,,,Exogenous ochronosis,TRUE,FALSE,Active +GARD:10758,Active,Orphanet,ORPHA:97593,Group of disorders,[Category],Pseudohypoparathyroidism,,"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms).",,,,,,Pseudohypoparathyroidism,TRUE,FALSE,Active +GARD:10759,Legacy,GARD,,,,,,,,,,,,Hemangioma,FALSE,FALSE,Active +GARD:1076,Legacy,GARD,,,,,,,,,,,,Systemic candidiasis,TRUE,FALSE,Active +GARD:10760,Active,Orphanet,ORPHA:137625,Disorder,[Disease],Glycogen storage disease due to muscle and heart glycogen synthase deficiency,"[GSD due to muscle and heart glycogen synthase deficiency, GSD type 0b, Glycogen storage disease type 0b, Glycogenosis due to muscle and heart glycogen synthase deficiency, Glycogenosis type 0b]","Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.",[611556],,,,,"Glycogen storage disease type 0, muscle",TRUE,FALSE,Active +GARD:10761,Active,Orphanet,ORPHA:19,Group of disorders,[Clinical group],2-hydroxyglutaric aciduria,[2-hydroxyglutaric acidemia],"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.",,,,,,2-Hydroxyglutaric aciduria,TRUE,FALSE,Active +GARD:10762,Active,Orphanet,ORPHA:289601,Disorder,[Disease],Hereditary arterial and articular multiple calcification syndrome,"[CALJA, Calcification of joints and arteries]","Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.",[211800],,,,,ACDC,TRUE,FALSE,Active +GARD:10763,Active,Orphanet+OMIM,OMIM:126800,Subtype of disorder,[Malformation syndrome subtype],Duane retraction syndrome 1,,"Duane retraction syndrome is a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision ({2:Appukuttan et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Duane Retraction Syndrome\n\nDuane retraction syndrome-1 (DURS1) maps to chromosome 8q13. DURS2 ({604356}) is caused by mutation in the CHN1 gene ({118423}) on chromosome 2q31. DURS3 ({617041}) is caused by mutation in the MAFB gene ({608968}) on chromosome 20q12.",[126800],[233],[Duane retraction syndrome],[6288],,Duane syndrome type 1,TRUE,FALSE,Retired +GARD:10764,Active,Orphanet,ORPHA:289891,Disorder,[Disease],Hypermethioninemia due to glycine N-methyltransferase deficiency,"[Glycine N-methyltransferase deficiency, Hypermethioninemia due to GNMT deficiency]","Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine.",[606664],,,,,Glycine N-methyltransferase deficiency,TRUE,FALSE,Active +GARD:10765,Legacy,GARD,,,,,,,,,,,,Chromosome 9 inversion,FALSE,FALSE,Active +GARD:10766,Active,Orphanet,ORPHA:331,Disorder,[Disease],Congenital factor XIII deficiency,[Fibrin-stabilizing factor deficiency],Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.,"[613235, 613225]",,,,,Factor XIII deficiency,TRUE,FALSE,Active +GARD:10767,Active,Orphanet,ORPHA:79330,Disorder,[Disease],MOGS-CDG,"[CDG syndrome type IIb, CDG-IIb, CDG2B, Carbohydrate deficient glycoprotein syndrome type IIb, Congenital disorder of glycosylation type 2b, Congenital disorder of glycosylation type IIb, Glucosidase 1 deficiency]","MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).",[606056],,,,,MOGS-CDG (CDG-IIb),TRUE,FALSE,Active +GARD:10768,Active,Orphanet,ORPHA:569,Disorder,[Disease],Familial or sporadic hemiplegic migraine,,A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).,"[607516, 609634, 141500, 602481]",,,,,Familiar or sporadic hemiplegic migraine,TRUE,FALSE,Active +GARD:10769,Active,Orphanet,ORPHA:59135,Disorder,[Disease],Laing early-onset distal myopathy,"[Distal myopathy type 1, Gowers disease, MPD1]","Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.",[160500],,,,,Laing distal myopathy,TRUE,FALSE,Active +GARD:1077,Active,Orphanet,ORPHA:1334,Disorder,[Disease],Chronic mucocutaneous candidiasis,[CMC],"A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.","[607644, 247650, 252250, 613956, 613953, 613108, 114580, 616445, 615527]",,,,,Autosomal recessive candidiasis familial chronic mucocutaneous,TRUE,FALSE,Active +GARD:10770,Legacy,GARD,,,,,,,,,,,,Homocystinuria,TRUE,FALSE,Active +GARD:10771,Active,Orphanet,ORPHA:478,Subtype of disorder,[Clinical subtype],Kallmann syndrome,"[Congenital hypogonadotropic hypogonadism with anosmia, Olfacto-genital pathological sequence]","Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).","[308700, 614837, 612370, 614838, 610628, 615267, 616030, 614897, 614840, 615269, 618841, 615270, 244200, 614858, 612702, 615271, 147950, 614880, 615266]",,,,,Kallmann syndrome,TRUE,FALSE,Active +GARD:10772,Active,Orphanet+OMIM,OMIM:610628,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 4 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {5:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[610628],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 4,TRUE,FALSE,Active +GARD:10773,Active,Orphanet+OMIM,OMIM:612370,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 5 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {5:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[612370],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 5,TRUE,FALSE,Active +GARD:10774,Active,Orphanet+OMIM,OMIM:612702,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 6 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[612702],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 6,TRUE,FALSE,Active +GARD:10775,Active,Orphanet,ORPHA:228426,Disorder,[Disease],Syndromic multisystem autoimmune disease due to Itch deficiency,,"Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.",[613385],,,,,ITCH E3 ubiquitin ligase deficiency,TRUE,FALSE,Active +GARD:10776,Legacy,GARD,,,,,,,,,,,,Benign metastasizing leiomyoma,TRUE,FALSE,Active +GARD:10777,Active,Orphanet,ORPHA:168816,Disorder,[Disease],Peritoneal cystic mesothelioma,"[Benign multicystic peritoneal mesothelioma, Multicystic mesothelioma, Multilocular peritoneal inclusion cyst]",Peritoneal cystic mesothelioma is a rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses.,,,,,,Benign multicystic peritoneal mesothelioma,TRUE,FALSE,Active +GARD:10778,Active,Orphanet,ORPHA:169142,Disorder,[Disease],Recurrent infection due to specific granule deficiency,[Neutrophil-specific granule deficiency],"A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.","[245480, 617475]",,,,,Neutrophil-specific granule deficiency,TRUE,FALSE,Active +GARD:10779,Active,Orphanet,ORPHA:284448,Disorder,[Disease],CLIPPERS,[Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids],"CLIPPERS is a rare neuroinflammatory disorder characterized by brainstem-predominant encephalomyelitis which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesias), as well as brainstem, myelopathy and cognitive findings, that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology.",,,,,,Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids,TRUE,FALSE,Active +GARD:1078,Active,Orphanet,ORPHA:2233,Disorder,[Disease],Hypogonadism-mitral valve prolapse-intellectual disability syndrome,[Cantalamessa-Baldini-Ambrosi syndrome],"This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.",,,,,,Cantalamessa Baldini Ambrosi syndrome,TRUE,FALSE,Active +GARD:10780,Active,Orphanet,ORPHA:617916,Disorder,[Disease],Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,,,,,,,,Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,TRUE,FALSE,Active +GARD:10781,Active,Orphanet,ORPHA:53540,Disorder,[Disease],Goldmann-Favre syndrome,"[Enhanced S-cone syndrome, Retinoschisis with early nyctalopia]","Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).",[268100],,,,,Goldmann-Favre syndrome,TRUE,FALSE,Active +GARD:10782,Active,Orphanet,ORPHA:828,Disorder,[Disease],Stickler syndrome,[Hereditary progressive arthroophthalmopathy],"A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct folded membrane, and Stickler type 2 by sparse and irregularly thickened bundles of fibers throughout the vitreous cavity.","[614134, 614284, 609508, 108300, 604841]",,,,,Stickler syndrome,TRUE,FALSE,Active +GARD:10783,Active,Orphanet,ORPHA:208444,Subtype of disorder,[Clinical subtype],Bilateral frontal polymicrogyria,,,,,,,,Bilateral frontal polymicrogyria,TRUE,FALSE,Active +GARD:10784,Active,Orphanet,ORPHA:101070,Subtype of disorder,[Clinical subtype],Bilateral frontoparietal polymicrogyria,,"Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.",[606854],,,,,Bilateral frontoparietal polymicrogyria,TRUE,FALSE,Active +GARD:10785,Active,Orphanet,ORPHA:208441,Subtype of disorder,[Clinical subtype],Bilateral parasagittal parieto-occipital polymicrogyria,,,[612691],,,,,Bilateral parasagittal parieto-occipital polymicrogyria,TRUE,FALSE,Active +GARD:10786,Active,Orphanet,ORPHA:208447,Subtype of disorder,[Clinical subtype],Bilateral generalized polymicrogyria,,,,,,,,Bilateral generalized polymicrogyria,TRUE,FALSE,Active +GARD:10787,Legacy,GARD,,,,,,,,,,,,Spina bifida occulta,FALSE,FALSE,Active +GARD:10788,Active,Orphanet,ORPHA:60030,Disorder,[Malformation syndrome],Loeys-Dietz syndrome,[Aortic aneurysm syndrome due to TGF-beta receptors anomalies],"Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.","[610168, 609192]",,,,,Loeys-Dietz syndrome,TRUE,FALSE,Active +GARD:10790,Active,Orphanet,ORPHA:1872,Disorder,[Disease],Cone rod dystrophy,,"A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.","[300476, 604116, 303700, 618555, 610381, 604393, 120970, 616502, 304020, 605549, 610478, 602093, 300834, 615973, 612657, 610283, 614500, 600977, 608194, 603649, 601777, 615163, 615860, 613660, 612775, 600624, 615374]",,,,,Cone-rod dystrophy,TRUE,FALSE,Active +GARD:10791,Active,Orphanet,ORPHA:250831,Disorder,[Disease],Logopenic progressive aphasia,"[LPA, Logopenic primary progressive aphasia, Logopenic variant PPA]","Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA; see this term), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.",,,,,,Logopenic progressive aphasia,TRUE,FALSE,Active +GARD:10792,Active,Orphanet,ORPHA:100069,Disorder,[Disease],Semantic dementia,"[Semantic primary progressive aphasia, Semantic variant PPA]","Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.","[172700, 600274]",,,,,Semantic dementia,TRUE,FALSE,Active +GARD:10793,Active,Orphanet,ORPHA:100070,Disorder,[Disease],Progressive non-fluent aphasia,"[Agramatic variant of PPA, Agramatic variant of primary progressive aphasia, Non-fluent variant PPA]","Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.","[172700, 607485, 600274]",,,,,Progressive non-fluent aphasia,TRUE,FALSE,Active +GARD:10794,Active,Orphanet,ORPHA:157835,Disorder,[Disease],Paroxysmal hemicrania,,A rare primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with ipsilateral cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.,,,,,,Paroxysmal hemicrania,TRUE,FALSE,Active +GARD:10795,Active,Orphanet,ORPHA:443070,Disorder,[Disease],Hemicrania continua,,"A rare trigeminal autonomic cephalalgia characterized by indomethacin-sensitive, persistent, strictly unilateral headache lasting for more than three months, associated with ipsilateral conjunctival injection, lacrimation, nasal congestion, rhinorrhea, forehead and facial sweating, miosis, ptosis, eyelid edema, and/or restlessness or agitation, and not better accounted for by another type of headache. Migrainous symptoms such as photophobia are often observed. The headache may be continuous (unremitting subtype) or interrupted by remission periods of more than 24 hours (remitting subtype).",,,,,,Hemicrania continua,TRUE,FALSE,Active +GARD:10796,Active,Orphanet,ORPHA:276429,Disorder,[Disease],Hypnic headache,,"A rare headache characterized by recurrent brief, intense headache attacks occurring exclusively during sleep, typically at the same time of the night, causing the patient to wake up. The pain usually lasts more than 15 minutes after waking. It is mostly bilateral and may be associated with nausea, photophobia, or phonophobia, while characteristically no autonomic symptoms are present.",,,,,,Hypnic headache,TRUE,FALSE,Active +GARD:10797,Legacy,GARD,,,,,,,,,,,,New daily-persistent headache,TRUE,FALSE,Active +GARD:10798,Legacy,GARD,,,,,,,,,,,,Thunderclap headache,TRUE,FALSE,Active +GARD:10799,Legacy,GARD,,,,,,,,,,,,Cough headache,TRUE,FALSE,Active +GARD:108,Active,Orphanet,ORPHA:206583,Subtype of disorder,[Clinical subtype],Adult polyglucosan body disease,[APBD],"A glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.",[263570],,,,,Adult polyglucosan body disease,TRUE,FALSE,Active +GARD:10800,Legacy,GARD,,,,,,,,,,,,Exertional headache,TRUE,FALSE,Active +GARD:10801,Active,Orphanet,ORPHA:34149,Disorder,[Disease],Autosomal dominant tubulointerstitial kidney disease,"[ADTKD, Familial juvenile hyperuricemic nephropathy, MCKD, Medullary cystic kidney disease]","A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD).","[162000, 174000]",,,,,Autosomal dominant tubulointerstitial kidney disease,TRUE,FALSE,Active +GARD:10802,Legacy,GARD,,,,,,,,,,,,Intravenous leiomyomatosis,TRUE,FALSE,Active +GARD:10803,Active,Orphanet,ORPHA:313,Disorder,[Disease],Lamellar ichthyosis,"[Classic lamellar ichthyosis, Congenital lamellar ichthyosis, LI]",Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.,"[242300, 604777, 617571, 606545, 613943, 612281, 601277]",,,,,Lamellar ichthyosis,TRUE,FALSE,Active +GARD:10804,Active,Orphanet,ORPHA:213531,Disorder,[Disease],Metaplastic carcinoma of the breast,,"Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.",,,,,,Metaplastic carcinoma of the breast,TRUE,FALSE,Active +GARD:10805,Active,Orphanet,ORPHA:247798,Subtype of disorder,[Clinical subtype],MUTYH-related attenuated familial adenomatous polyposis,"[MUTYH-related AFAP, MUTYH-related attenuated FAP, MUTYH-related attenuated familial polyposis coli]",,[608456],,,,,MYH-associated polyposis,TRUE,FALSE,Active +GARD:10806,Active,Orphanet,ORPHA:101039,Disorder,[Disease],Female restricted epilepsy with intellectual disability,"[EFMR, Juberg-Hellman syndrome]","Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.",[300088],,,,,PCDH19-related female-limited epilepsy,TRUE,FALSE,Active +GARD:10807,Legacy,GARD,,,,,,,,,,,,Infantile scoliosis,TRUE,FALSE,Active +GARD:10808,Active,Orphanet,ORPHA:411593,Disorder,[Disease],Insulin autoimmune syndrome,[Hirata disease],"A rare endocrine disease characterized by hyperinsulinemic hypoglycemia associated with the presence of autoantibodies to endogenous insulin without previous exposure to exogenous insulin. Patients usually present in adulthood with postprandial, fasting-, or exercise-induced hypoglycemia, often with pronounced neuroglycopenic symptoms. Laboratory investigations reveal markedly elevated serum insulin, as well as increased C-peptide and proinsulin. The condition may be associated with other autoimmune diseases, monoclonal gammopathy, and/or recent exposure to certain medications.",,,,,,Insulin autoimmune syndrome,TRUE,FALSE,Active +GARD:10809,Active,Orphanet,ORPHA:279947,Disorder,[Clinical syndrome],Postorgasmic illness syndrome,[POIS],"Postorgasmic illness syndrome is a rare urogenital disease characterized by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset.",,,,,,Postorgasmic illness syndrome,TRUE,FALSE,Active +GARD:1081,Legacy,GARD,,,,,,,,,,,,Cantu Sanchez-Corona Fragoso syndrome,TRUE,FALSE,Active +GARD:10810,Active,Orphanet,ORPHA:329308,Disorder,[Disease],Fatty acid hydroxylase-associated neurodegeneration,[FAHN],"Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.",[612319],,,,,Fatty acid hydroxylase-associated neurodegeneration,TRUE,FALSE,Active +GARD:10811,Legacy,GARD,,,,,,,,,,,,Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature,TRUE,FALSE,Active +GARD:10812,Legacy,GARD,,,,,,,,,,,,Patulous Eustachian Tube,FALSE,FALSE,Active +GARD:10813,Active,Orphanet,ORPHA:250989,Disorder,[Malformation syndrome],1q21.1 microdeletion syndrome,"[Del(1)(q21), Monosomy 1q21.1]",1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.,[612474],,,,,1q21.1 microdeletion syndrome,TRUE,FALSE,Active +GARD:10814,Active,Orphanet,ORPHA:79102,Disorder,[Disease],Thyrotoxic periodic paralysis,[Thyrotoxic hypokalemic periodic paralysis],Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.,"[614834, 613239, 188580]",,,,,Thyrotoxic periodic paralysis,TRUE,FALSE,Active +GARD:10815,Legacy,GARD,,,,,,,,,,,,Prothrombin-related thrombophilia,TRUE,FALSE,Active +GARD:10816,Active,Orphanet,ORPHA:254463,Disorder,[Disease],Lichen planus pigmentosus,"[LP pigmentosa, LP pigmentosus, Lichen planus pigmentosa, Lichen planus pigmentosus inversus]",Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus (see this term) characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.,,,,,,Lichen planus pigmentosus,TRUE,FALSE,Active +GARD:10817,Active,Orphanet,ORPHA:101011,Disorder,[Disease],Autosomal dominant spastic paraplegia type 31,[SPG31],"A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.",[610250],,,,,Spastic paraplegia 31,TRUE,FALSE,Active +GARD:10818,Active,Orphanet,ORPHA:289504,Disorder,[Disease],Combined malonic and methylmalonic acidemia,"[CMAMMA, Combined malonic and methylmalonic aciduria]","Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.",[614265],,,,,Combined malonic and methylmalonic aciduria,TRUE,FALSE,Active +GARD:10819,Legacy,GARD,,,,,,,,,,,,Sickle delta beta thalassemia,TRUE,FALSE,Active +GARD:1082,Legacy,GARD,,,,,,,,,,,,Cantu Sanchez-Corona Garcia-Cruz syndrome,TRUE,FALSE,Active +GARD:10820,Legacy,GARD,,,,,,,,,,,,California encephalitis,TRUE,FALSE,Active +GARD:10821,Active,Orphanet,ORPHA:83594,Disorder,[Disease],Eastern equine encephalitis,[Eastern equine encephalomyelitis],"An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.",,,,,,Eastern equine encephalitis,TRUE,FALSE,Active +GARD:10822,Active,Orphanet,ORPHA:458718,Disorder,[Disease],Idiopathic spontaneous coronary artery dissection,[Idiopathic SCAD],"A rare vascular disease characterized by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women.",[122455],,,,,Spontaneous coronary artery dissection,TRUE,FALSE,Active +GARD:10823,Active,Orphanet,ORPHA:71526,Subtype of disorder,[Etiological subtype],Obesity due to pro-opiomelanocortin deficiency,[POMC deficiency],"Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.","[601665, 609734]",,,,,Proopiomelanocortin deficiency,TRUE,FALSE,Active +GARD:10824,Active,Orphanet,ORPHA:189427,Disorder,[Disease],Cushing syndrome due to macronodular adrenal hyperplasia,[Primary bilateral macronodular adrenal hyperplasia],A rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.,"[219080, 615954]",,,,,ACTH-independent macronodular adrenal hyperplasia,TRUE,FALSE,Active +GARD:10825,Legacy,GARD,,,,,,,,,,,,Tufted hair folliculitis,TRUE,FALSE,Retired +GARD:10826,Legacy,GARD,,,,,,,,,,,,Central centrifugal cicatricial alopecia,TRUE,FALSE,Active +GARD:10827,Legacy,GARD,,,,,,,,,,,,KSHV inflammatory cytokine syndrome,TRUE,FALSE,Active +GARD:10828,Active,Orphanet,ORPHA:405,Disorder,[Disease],Familial hypocalciuric hypercalcemia,"[FBH, FBHH, FHH, Familial benign hypercalcemia, Familial benign hypocalciuric hypercalcemia]",Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.,"[145981, 600740, 145980]",,,,,Familial hypocalciuric hypercalcemia,TRUE,FALSE,Active +GARD:10829,Active,Orphanet,ORPHA:99880,Disorder,[Disease],Hyperparathyroidism-jaw tumor syndrome,[HPT-JT],"A rare genetic disease characterized by synchronous or metachronous occurrence of primary hyperparathyroidism and ossifying fibroma of the maxilla and/or mandible, associated with an increased risk of parathyroid carcinoma. Occurrence of renal cysts or tumors, multiple uterine polyps, and thyroid tumors has also been reported.",[145001],,,,,Hyperparathyroidism-jaw tumor syndrome,TRUE,FALSE,Active +GARD:1083,Legacy,GARD,,,,,,,,,,,,Cantu Sanchez-Corona Hernandez syndrome,TRUE,FALSE,Active +GARD:10830,Active,Orphanet,ORPHA:263432,Disorder,[Disease],Nevus of Ito,[Nevus fuscocaeruleus acromiodeltoideus],"Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.",,,,,,Nevus of Ito,TRUE,FALSE,Active +GARD:10831,Legacy,GARD,,,,,,,,,,,,1q duplications,TRUE,FALSE,Active +GARD:10832,Legacy,GARD,,,,,,,,,,,,Chromosome 1p duplication,TRUE,FALSE,Active +GARD:10833,Legacy,GARD,,,,,,,,,,,,Chromosome 19q deletion,TRUE,FALSE,Active +GARD:10834,Legacy,GARD,,,,,,,,,,,,Chromosome 19p duplication,TRUE,FALSE,Active +GARD:10835,Legacy,GARD,,,,,,,,,,,,Chromosome 19p deletion,TRUE,FALSE,Active +GARD:10836,Legacy,GARD,,,,,,,,,,,,Chromosome 2p deletion,TRUE,FALSE,Active +GARD:10837,Active,Orphanet,ORPHA:96171,Disorder,[Malformation syndrome],Ring chromosome 2 syndrome,"[Ring 2, Ring chromosome 2]","Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).",,,,,,Ring chromosome 2,TRUE,FALSE,Active +GARD:10838,Legacy,GARD,,,,,,,,,,,,Chromosome 3q deletion,TRUE,FALSE,Active +GARD:10839,Active,Orphanet,ORPHA:96172,Disorder,[Malformation syndrome],Ring chromosome 3 syndrome,"[Ring 3, Ring chromosome 3]","Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.",,,,,,Ring chromosome 3,TRUE,FALSE,Active +GARD:1084,Active,Orphanet,ORPHA:188,Disorder,[Disease],Systemic capillary leak syndrome,"[Capillary hyperpermeability syndrome, Capillary leak syndrome, Clarkson disease, Idiopathic capillary leak syndrome, SCLS]","Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia.",,,,,,Systemic capillary leak syndrome,TRUE,FALSE,Active +GARD:10840,Legacy,GARD,,,,,,,,,,,,Chromosome 5q deletion,TRUE,FALSE,Active +GARD:10841,Active,Orphanet,ORPHA:251043,Disorder,[Malformation syndrome],Ring chromosome 5 syndrome,"[Ring 5, Ring chromosome 5]","Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).",,,,,,Ring chromosome 5,TRUE,FALSE,Active +GARD:10842,Legacy,GARD,,,,,,,,,,,,Chromosome 5p deletion,TRUE,FALSE,Active +GARD:10843,Legacy,GARD,,,,,,,,,,,,Chromosome 6p deletion,TRUE,FALSE,Active +GARD:10844,Legacy,GARD,,,,,,,,,,,,Chromosome 9q deletion,TRUE,FALSE,Active +GARD:10845,Legacy,GARD,,,,,,,,,,,,Chromosome 11p duplication,TRUE,FALSE,Active +GARD:10846,Active,Orphanet,ORPHA:96175,Disorder,[Malformation syndrome],Ring chromosome 11 syndrome,"[RC11, Ring 11, Ring chromosome 11, r(11) syndrome]","Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.",,,,,,Ring chromosome 11,TRUE,FALSE,Active +GARD:10847,Legacy,GARD,,,,,,,,,,,,Chromosome 12q deletion,TRUE,FALSE,Active +GARD:10853,Legacy,GARD,,,,,,,,,,,,Chromosome 16p deletion,TRUE,FALSE,Active +GARD:10854,Legacy,GARD,,,,,,,,,,,,Chromosome 16q deletion,TRUE,FALSE,Active +GARD:10855,Active,Orphanet,ORPHA:96178,Disorder,[Malformation syndrome],Ring chromosome 16 syndrome,"[Ring 16, Ring chromosome 16]","A rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.",,,,,,Ring chromosome 16,TRUE,FALSE,Active +GARD:10856,Legacy,GARD,,,,,,,,,,,,Chromosome 20q duplication,TRUE,FALSE,Active +GARD:10857,Legacy,GARD,,,,,,,,,,,,Chromosome 20q deletion,TRUE,FALSE,Active +GARD:10858,Legacy,GARD,,,,,,,,,,,,Chromosome 21q duplication,TRUE,FALSE,Active +GARD:10860,Active,Orphanet,ORPHA:574,Disorder,[Malformation syndrome],Monosomy 21,"[21q deletion syndrome, 21q- syndrome, Partial 21q monosomy]","Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.",,,,,,Chromosome 21q deletion,TRUE,FALSE,Active +GARD:10862,Legacy,GARD,,,,,,,,,,,,Chromosome 22q duplication,TRUE,FALSE,Active +GARD:10865,Active,Orphanet,ORPHA:1600,Disorder,[Malformation syndrome],Monosomy 18q,"[18q deletion syndrome, 18q- syndrome, Deletion 18q]","Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.",[601808],,,,,Distal chromosome 18q deletion syndrome,TRUE,FALSE,Active +GARD:10866,Legacy,GARD,,,,,,,,,,,,Proximal chromosome 18q deletion syndrome,TRUE,FALSE,Active +GARD:10867,Active,Orphanet,ORPHA:867,Subtype of disorder,[Clinical subtype],Familial multiple trichoepithelioma,,,"[612099, 601606]",,,,,Multiple familial trichoepithelioma,TRUE,FALSE,Retired +GARD:10868,Legacy,GARD,,,,,,,,,,,,Mollaret meningitis,TRUE,FALSE,Active +GARD:10869,Legacy,GARD,,,,,,,,,,,,Mosaic trisomy 13,TRUE,FALSE,Active +GARD:10870,Active,Orphanet,ORPHA:834,Disorder,[Disease],Free sialic acid storage disease,,"Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).","[269920, 604369]",,,,,Free sialic acid storage disease,TRUE,FALSE,Active +GARD:10871,Active,Orphanet,ORPHA:309331,Subtype of disorder,[Clinical subtype],Intermediate severe Salla disease,,,,,,,,Intermediate severe Salla disease,TRUE,FALSE,Active +GARD:10872,Active,Orphanet,ORPHA:3148,Disorder,[Disease],Malignant peripheral nerve sheath tumor,"[MPNST, Malignant neurilemmoma, Malignant neurofibroma, Malignant schwannoma, Neurofibrosarcoma, Neurogenic sarcoma]",Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.,,,,,,Malignant peripheral nerve sheath tumor,TRUE,FALSE,Active +GARD:10874,Legacy,GARD,,,,,,,,,,,,Pancreatic agenesis,TRUE,FALSE,Retired +GARD:10875,Active,Orphanet,ORPHA:450,Group of disorders,[Category],Heterotaxia,"[Heterotaxy syndrome, Lateralization defect, Visceral heterotaxy]","Heterotaxia (coming from the Greek 'heteros' meaning different and 'taxis' meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (situs inversus totalis or situs inversus i.e. all the organs normally found on the right are on the left and vice versa) or partial (incomplete situs inversus i.e. a limited number of organs are inversed - or situs inversus ambiguous i.e. a normally lateral organ is centrally located).","[270100, 605376, 306955, 618948, 617205, 601086, 613751, 616749, 614779, 606325]",,,,,Heterotaxy,TRUE,FALSE,Active +GARD:10876,Active,Orphanet,ORPHA:3269,Disorder,[Morphological anomaly],Congenital radioulnar synostosis,[Radioulnar fusion],"Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.",[179300],,,,,Congenital radioulnar synostosis,TRUE,FALSE,Active +GARD:10877,Active,Orphanet,ORPHA:53715,Disorder,[Disease],Familial tumoral calcinosis,,"A phosphocalcic metabolism anomaly, occuring particularly among younger age groups, characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification. Two forms have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.","[610455, 211900]",,,,,Familial tumoral calcinosis,TRUE,FALSE,Active +GARD:10878,Active,Orphanet,ORPHA:306658,Subtype of disorder,[Clinical subtype],Familial normophosphatemic tumoral calcinosis,,,[610455],,,,,Normophosphatemic familial tumoral calcinosis,TRUE,FALSE,Active +GARD:10879,Active,Orphanet,ORPHA:306661,Subtype of disorder,[Clinical subtype],Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome,[Hypercalcemic tumoral calcinosis],"A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.","[617993, 617994, 211900]",,,,,Hyperphosphatemic familial tumoral calcinosis,TRUE,FALSE,Active +GARD:10880,Active,Orphanet+OMIM,OMIM:613829,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 7,,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {1:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[613829],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 7,TRUE,FALSE,Active +GARD:10881,Active,Orphanet+OMIM,OMIM:613835,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 8,,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {2:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[613835],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 8,TRUE,FALSE,Active +GARD:10882,Active,Orphanet+OMIM,OMIM:612712,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 13,,,[612712],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 13,TRUE,FALSE,Active +GARD:10883,Active,Orphanet+OMIM,OMIM:613341,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 14,,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa ({2:Gu et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}.",[613341],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 14,TRUE,FALSE,Active +GARD:10884,Active,Orphanet+OMIM,OMIM:613843,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 15,,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (summary by {2:Gu et al., 1997}).\n\nMutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; {600132}).\n\nFor a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}.",[613843],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 15,TRUE,FALSE,Active +GARD:10885,Active,Orphanet+OMIM,OMIM:614186,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 16,,,[614186],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 16,TRUE,FALSE,Active +GARD:10886,Active,Orphanet,ORPHA:254492,Disorder,[Disease],Frontal fibrosing alopecia,[FFA],"Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris (see this term) characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.",,,,,,Frontal fibrosing alopecia,TRUE,FALSE,Active +GARD:10887,Active,Orphanet,ORPHA:488265,Disorder,[Disease],Osteofibrous dysplasia,[OFD],"Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.",[607278],,,,,Osteofibrous dysplasia,TRUE,FALSE,Active +GARD:10888,Legacy,GARD,,,,,,,,,,,,Diffuse dermal angiomatosis,TRUE,FALSE,Active +GARD:10889,Active,Orphanet,ORPHA:73229,Disorder,[Disease],HANAC syndrome,"[Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome]","A rare multisystemic disease characterized by small-vessel brain disease, cerebral aneurysm, and extracerebral findings involving the kidney, muscle, and small vessels of the eye.",[611773],,,,,"Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome",TRUE,FALSE,Active +GARD:1089,Legacy,GARD,,,,,,,,,,,,Universal acquired melanosis,TRUE,FALSE,Active +GARD:10890,Active,Orphanet,ORPHA:141179,Disorder,[Disease],Non-involuting congenital hemangioma,[NICH],Non-involuting congenital hemangiomas (NICH) are a distinctive type of large congenital hemangioma that are fully formed in utero and differ from rapidly involuting congenital hemangiomas (RICH; see this term) mainly because they do not undergo a postnatal involuting phase.,,,,,,Non-involuting congenital hemangioma,TRUE,FALSE,Active +GARD:10891,Active,Orphanet,ORPHA:354,Disorder,[Disease],GM1 gangliosidosis,"[Beta-galactosidase-1 deficiency, GLB1 deficiency, Landing disease]","GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.","[230650, 230600, 230500]",,,,,GM1 gangliosidosis,TRUE,FALSE,Active +GARD:10892,Active,Orphanet,ORPHA:293642,Group of disorders,[Clinical group],Blepharophimosis-intellectual disability syndrome,[BMRS],,,,,,,Blepharophimosis intellectual disability syndromes,TRUE,FALSE,Active +GARD:10893,Legacy,GARD,,,,,,,,,,,,Aicardi-Goutieres syndrome type 1,TRUE,FALSE,Retired +GARD:10894,Legacy,GARD,,,,,,,,,,,,Aicardi-Goutieres syndrome type 2,TRUE,FALSE,Retired +GARD:10895,Legacy,GARD,,,,,,,,,,,,Aicardi-Goutieres syndrome type 3,TRUE,FALSE,Retired +GARD:10896,Legacy,GARD,,,,,,,,,,,,Aicardi-Goutieres syndrome type 4,TRUE,FALSE,Retired +GARD:10897,Legacy,GARD,,,,,,,,,,,,Gray zone lymphoma,TRUE,FALSE,Active +GARD:10898,Active,Orphanet,ORPHA:98872,Disorder,[Disease],Primary acquired pure red cell aplasia,[Primary acquired PRCA],"A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.",,,,,,Acquired pure red cell aplasia,TRUE,FALSE,Active +GARD:10899,Active,Orphanet,ORPHA:52430,Disorder,[Disease],Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,"[IBMPFD, Limb-girdle muscular dystrophy with Paget disease of bone, Pagetoid amyotrophic lateral sclerosis, Pagetoid neuroskeletal syndrome]","Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.","[167320, 615424, 615422]",,,,,Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia,TRUE,FALSE,Active +GARD:109,Active,Orphanet,ORPHA:2762,Disorder,[Malformation syndrome],Progressive osseous heteroplasia,"[Familial ectopic ossification, POH]","Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.",[166350],,,,,Progressive osseous heteroplasia,TRUE,FALSE,Active +GARD:10900,Active,Orphanet,ORPHA:26106,Disorder,[Disease],Hereditary diffuse gastric cancer,"[FDGC, Familial diffuse cancer of stomach, Familial diffuse gastric cancer, HDGC, Hereditary diffuse cancer of stomach, Hereditary diffuse gastric adenocarcinoma]","Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.",[137215],,,,,Hereditary diffuse gastric cancer,TRUE,FALSE,Active +GARD:10901,Legacy,GARD,,,,,,,,,,,,Aquagenic urticaria,TRUE,FALSE,Active +GARD:10902,Active,Orphanet,ORPHA:263440,Group of disorders,[Clinical group],Neuroacanthocytosis,,Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.,,,,,,Neuroacanthocytosis,TRUE,FALSE,Active +GARD:10903,Active,Orphanet,ORPHA:1293,Group of disorders,[Clinical group],Brachyolmia,,"Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.",,,,,,Brachyolmia,TRUE,FALSE,Active +GARD:10904,Legacy,GARD,,,,,,,,,,,,Pityriasis rotunda,TRUE,FALSE,Active +GARD:10905,Active,Orphanet,ORPHA:1775,Disorder,[Disease],Dyskeratosis congenita,"[DC, DKC, Zinsser-Engman-Cole syndrome]","A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.","[613988, 127550, 615190, 613989, 305000, 613987, 224230, 613990, 616353]",,,,,Dyskeratosis congenita,TRUE,FALSE,Active +GARD:10906,Active,Orphanet,ORPHA:189439,Disorder,[Disease],Primary pigmented nodular adrenocortical disease,"[PPNAD, Primary pigmented nodular adrenal dysplasia]",Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).,"[610489, 610475, 614190, 615830]",,,,,Primary pigmented nodular adrenocortical disease,TRUE,FALSE,Active +GARD:10907,Active,Orphanet,ORPHA:317476,Disorder,[Disease],"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia","[CID due to MAGT1 deficiency, Combined immunodeficiency due to MAGT1 deficiency, XMEN]","X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.",[300853],,,,,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",TRUE,FALSE,Active +GARD:10908,Legacy,GARD,,,,,,,,,,,,Congenital extrahepatic portosystemic shunt,TRUE,FALSE,Active +GARD:10909,Active,Orphanet,ORPHA:99000,Disorder,[Disease],Adult-onset foveomacular vitelliform dystrophy,"[AOFMD, AVMD, Adult-onset foveomacular dystrophy, Adult-onset foveomacular dystrophy with choroidal neovascularization, Adult-onset vitelliform macular dystrophy, Gass disease, Pseudo-Best disease, Pseudo-vitelliform macular dystrophy]","A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.","[608161, 153840, 616151, 616152]",,,,,Adult-onset vitelliform macular dystrophy,TRUE,FALSE,Active +GARD:1091,Legacy,GARD,,,,,,,,,,,,Squamous cell carcinoma,FALSE,FALSE,Active +GARD:10910,Active,Orphanet,ORPHA:57196,Disorder,[Disease],Medial condensing osteitis of the clavicle,[Osteitis condensans of the clavicle],"A rare bone disease characterized by benign, usually unilateral, sclerosis of the inferomedial third of the clavicle. Patients present with localized swelling and persistent pain. Typical radiographic findings are expansion of the medial end of the clavicle with increased radio-density and signs of bone remodeling.",,,,,,Condensing osteitis of the clavicle,TRUE,FALSE,Active +GARD:10911,Active,Orphanet,ORPHA:103919,Group of disorders,[Clinical group],Autoimmune pancreatitis,[AIP],"A rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.",,,,,,Autoimmune pancreatitis,TRUE,FALSE,Active +GARD:10912,Legacy,GARD,,,,,,,,,,,,Fournier gangrene,TRUE,FALSE,Active +GARD:10913,Active,Orphanet,ORPHA:381,Disorder,[Disease],Griscelli syndrome,"[Chédiak-Higashi-like syndrome, Griscelli-Pruniéras syndrome, Partial albinism-immunodeficiency syndrome]","Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3).","[609227, 607624, 214450]",,,,,Griscelli syndrome,TRUE,FALSE,Active +GARD:10914,Active,Orphanet,ORPHA:86820,Disorder,[Disease],Familial avascular necrosis of femoral head,[Familial osteonecrosis of the femoral head],"Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.","[608805, 617383]",,,,,Familial avascular necrosis of the femoral head,TRUE,FALSE,Active +GARD:10915,Active,Orphanet,ORPHA:2442,Group of disorders,[Clinical group],X-linked lymphoproliferative disease,"[Duncan disease, Purtilo syndrome, XLP]",,"[308240, 300635]",,,,,X-linked lymphoproliferative syndrome,TRUE,FALSE,Active +GARD:10916,Active,Orphanet,ORPHA:538934,Disorder,[Disease],X-linked lymphoproliferative disease due to XIAP deficiency,"[X-linked lymphoproliferative syndrome type 2, XIAP deficiency syndrome, XLP2]","A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifestating with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells.",[300635],,,,,X-linked lymphoproliferative syndrome 2,TRUE,FALSE,Active +GARD:10917,Active,Orphanet,ORPHA:139441,Disorder,[Disease],Hypomyelination with atrophy of basal ganglia and cerebellum,[H-ABC],"A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.","[617899, 612438]",,,,,Hypomyelination with atrophy of basal ganglia and cerebellum,TRUE,FALSE,Active +GARD:10918,Legacy,GARD,,,,,,,,,,,,Idiopathic spinal cord herniation,TRUE,FALSE,Active +GARD:10919,Active,Orphanet,ORPHA:269229,Disorder,[Morphological anomaly],Pontine tegmental cap dysplasia,[PTCD],"Pontine tegmental cap dysplasia is a rare, central nervous system malformation characterized by specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported.",[614688],,,,,Pontine tegmental cap dysplasia,TRUE,FALSE,Active +GARD:10920,Legacy,GARD,,,,,,,,,,,,Localized hypertrophic neuropathy,TRUE,FALSE,Active +GARD:10921,Active,Orphanet,ORPHA:100003,Disorder,[Disease],Intraneural perineurioma,,"Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare.",,,,,,Intraneural perineurioma,TRUE,FALSE,Active +GARD:10922,Active,Orphanet,ORPHA:261534,Disorder,[Malformation syndrome],"49,XXXYY syndrome",,"49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.",,,,,,"49, XXXYY syndrome",TRUE,FALSE,Active +GARD:10923,Active,Orphanet,ORPHA:308166,Group of disorders,[Clinical group],Erythrokeratoderma variabilis progressiva,,"Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP.",,,,,,Erythrokeratodermia variabilis et progressiva,TRUE,FALSE,Active +GARD:10924,Active,Orphanet,ORPHA:139411,Disorder,[Disease],Carney triad,,"A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.",[604287],,,,,Carney triad,TRUE,FALSE,Active +GARD:10925,Active,Orphanet,ORPHA:83483,Disorder,[Disease],La Crosse encephalitis,[Californian encephalitis],"An acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.",,,,,,La Crosse encephalitis,TRUE,FALSE,Active +GARD:10926,Legacy,GARD,,,,,,,,,,,,Pulmonary hyalinizing granuloma,TRUE,FALSE,Active +GARD:10927,Active,Orphanet,ORPHA:208650,Group of disorders,[Clinical group],Cryopyrin-associated periodic syndrome,"[CAPS, Cryopyrinopathy, NLRP3-associated systemic autoinflammatory disease]","Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms).",,,,,,Cryopyrin-associated periodic syndrome,TRUE,FALSE,Active +GARD:10928,Legacy,GARD,,,,,,,,,,,,Progressive bulbar palsy,TRUE,FALSE,Active +GARD:10929,Active,Orphanet,ORPHA:48372,Subtype of disorder,[Histopathological subtype],Nodular regenerative hyperplasia of the liver,[Non-cirrhotic nodulation],A form of portosinusoidal vascular disease characterized histologically by the absence of cirrhosis and diffuse benign transformation of the hepatic parenchyma into multiple small nodules (typically 1-3 mm).,,,,,,Nodular regenerative hyperplasia,TRUE,FALSE,Active +GARD:1093,Active,Orphanet+OMIM,OMIM:113900,Subtype of disorder,[Disease subtype],"Progressive familial heart block, type ia","[cardiac conduction defect, progressive, heart block, progressive familial, type i, Pfhbia, hereditary bundle branch system defect, bundle branch block, lenegre-lev disease]","Progressive familial heart block type I (PFHBI, PFHB1) is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart block ({4:Brink and Torrington, 1977}; {28:van der Merwe et al., 1986}; {29:van der Merwe et al., 1988}). It is defined on electrocardiogram by evidence of bundle branch disease, i.e., right bundle branch block, left anterior or posterior hemiblock, or complete heart block, with broad QRS complexes. Progression has been shown from a normal electrocardiogram to right bundle branch block and from the latter to complete heart block. These electrocardiographic features differentiate PFHB type I from progressive familial heart block type II (PFHBII, PFHB2; {140400}), in which the onset of complete heart block is associated with narrow complexes. Electrocardiographically the changes represent, respectively, bundle branch disease (PFHB1) and atrioventricular nodal disease with an atrioventricular block and an idionodal escape rhythm (PFHB2). PFHBI is manifested symptomatically when complete heart block supervenes, either with dyspnea, syncopal episodes, or sudden death. Treatment, which is best managed by regular electrocardiographic follow-up, is by the timely implantation of a pacemaker ({5:Brink et al., 1995}).\n\n<Subhead> Genetic Heterogeneity of Progressive Familial Heart Block Type I\n\nProgressive familial heart block type IB (PFHB1B; {604559}) is caused by mutation in the TRPM4 gene ({606936}) on chromosome 19q13.32.",[113900],[871],[Familial progressive cardiac conduction defect],[10005],,Progressive familial heart block type 1A,TRUE,FALSE,Active +GARD:10930,Legacy,GARD,,,,,,,,,,,,Dieulafoy lesion,TRUE,FALSE,Active +GARD:10931,Legacy,GARD,,,,,,,,,,,,Orbital varix,TRUE,FALSE,Active +GARD:10932,Legacy,GARD,,,,,,,,,,,,Ocular neuromyotonia,TRUE,FALSE,Active +GARD:10933,Active,Orphanet+OMIM,OMIM:613402,Subtype of disorder,[Clinical syndrome subtype],"Microcephaly, seizures, and developmental delay","[epileptic encephalopathy, early infantile, 10, Developmental and epileptic encephalopathy 10]","Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients develop refractory seizures in infancy, consistent with a developmental and epileptic encephalopathy (DEE), whereas others have more well-controlled seizures and a more protracted course associated with cerebellar atrophy and peripheral neuropathy ({2:Shen et al., 2010} and {1:Poulton et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[613402],[1934],[Early infantile epileptic encephalopathy],[9255],,"Microcephaly, seizures, and developmental delay",TRUE,FALSE,Active +GARD:10934,Active,Orphanet,ORPHA:228423,Disorder,[Disease],Monocytopenia with susceptibility to infections,"[Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections, Dendritic cell, monocyte, B and NK lymphoid deficiency, MonoMAC, Monocyte-B-natural killer-dendritic cell deficiency syndrome, Monocytopenia and mycobacterial infection syndrome]","Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.",[614172],,,,,"Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency",TRUE,FALSE,Active +GARD:10935,Active,Orphanet,ORPHA:261250,Disorder,[Malformation syndrome],16q24.3 microdeletion syndrome,"[Del(16)(q24.3), Monosomy 16q24.3]","16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.",,,,,,16q24.3 microdeletion syndrome,TRUE,FALSE,Active +GARD:10936,Active,Orphanet,ORPHA:261279,Disorder,[Malformation syndrome],17q23.1q23.2 microdeletion syndrome,"[Del(17)(q23.1q23.2), Monosomy 17q23.1q23.2]","17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.",[613355],,,,,17q23.1q23.2 microdeletion syndrome,TRUE,FALSE,Active +GARD:10937,Active,Orphanet+OMIM,OMIM:613327,Subtype of disorder,[Disease subtype],"Lipodystrophy, congenital generalized, type 4","[lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy, Berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy]","Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy ({608594}) with muscular dystrophy and cardiac conduction anomalies ({2:Hayashi et al., 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 ({608594}).",[613327],[528],[Congenital generalized lipodystrophy],[13388],,Congenital generalized lipodystrophy type 4,TRUE,FALSE,Active +GARD:10938,Active,Orphanet,ORPHA:231736,Disorder,[Malformation syndrome],Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,[MPPC syndrome],"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome is a rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.",,,,,,Microcornea posterior megalolenticonus persistent fetal vasculature coloboma,TRUE,FALSE,Active +GARD:10939,Active,Orphanet,ORPHA:140944,Disorder,[Malformation syndrome],CLOVES syndrome,"[Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome, Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome]","CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.",[612918],,,,,CLOVES syndrome,TRUE,FALSE,Active +GARD:1094,Active,Orphanet,ORPHA:1686,Disorder,[Morphological anomaly],Cardiac diverticulum,,"Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.",,,,,,Cardiac diverticulum,TRUE,FALSE,Active +GARD:10940,Active,Orphanet,ORPHA:88633,Disorder,[Disease],Superior limbic keratoconjunctivitis,"[SLK, Theodore superior limbic keratoconjunctivitis, Theodore syndrome]","A rare disorder of the anterior segment of the eye characterized by unilateral or bilateral, chronic and recurrent inflammation affecting the upper tarsal and bulbar conjunctiva, as well as the superior limbus, manifesting as a papillary reaction on the upper tarsal conjunctiva, thickening and folding of redundant superior bulbar conjunctiva, and superficial punctate epithelial keratitis with or without filament formation near the superior corneal limbus. Middle-aged women are most commonly affected and present with foreign body sensation, frequent blinking, burning sensation, and pruritus, among others.",,,,,,Superior limbic keratoconjunctivitis,TRUE,FALSE,Active +GARD:10941,Active,Orphanet,ORPHA:280886,Group of disorders,[Category],Anterior uveitis,[Iridocyclitis],,,,,,,Anterior uveitis,TRUE,FALSE,Active +GARD:10942,Active,Orphanet,ORPHA:238763,Disorder,[Malformation syndrome],Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,[Megalocornea-spherophakia-secondary glaucoma syndrome],"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.",[251750],,,,,Megalocornea - spherophakia - secondary glaucoma,TRUE,FALSE,Active +GARD:10943,Active,Orphanet,ORPHA:238769,Disorder,[Malformation syndrome],1q44 microdeletion syndrome,"[Del(1)(q44), Monosomy 1q44]","1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.",,,,,,1q44 microdeletion syndrome,TRUE,FALSE,Active +GARD:10944,Active,Orphanet,ORPHA:464443,Disorder,[Disease],COG6-CGD,"[CDG syndrome type IIL, CDG-IIL, CDG2L, Congenital disorder of glycosylation type 2l, Congenital disorder of glycosylation type IIL]","A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles.",[614576],,,,,COG6-CDG (CDG-IIL),TRUE,FALSE,Active +GARD:10945,Active,Orphanet,ORPHA:391677,Disorder,[Malformation syndrome],Short stature-optic atrophy-Pelger-Huët anomaly syndrome,[SOPH syndrome],"A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.",[614800],,,,,Short stature with optic atrophy and Pelger-Huët anomaly syndrome,TRUE,FALSE,Active +GARD:10946,Active,Orphanet,ORPHA:54251,Disorder,[Disease],Corticosteroid-sensitive aseptic abscess syndrome,"[Aseptic abscesses syndrome, Aseptic systemic abscesses, Disseminated aseptic abscesses]",Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.,,,,,,Corticosteroid-sensitive aseptic abscesses,TRUE,FALSE,Active +GARD:10947,Active,Orphanet,ORPHA:178338,Disorder,[Disease],UV-sensitive syndrome,,"A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive.","[614621, 614640, 600630]",,,,,UV sensitive syndrome,TRUE,FALSE,Active +GARD:10948,Active,Orphanet,ORPHA:280379,Disorder,[Disease],Erythropoietic uroporphyria associated with myeloid malignancy,,"A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.",,,,,,Erythropoietic uroporphyria associated with myeloid malignancy,TRUE,FALSE,Active +GARD:10949,Active,Orphanet,ORPHA:73267,Disorder,[Disease],Non-24-hour sleep-wake syndrome,[Hypernychthemeral syndrome],A rare neurological disease which is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.,,,,,,Non 24 hour sleep wake disorder,TRUE,FALSE,Active +GARD:10951,Active,Orphanet,ORPHA:158011,Disorder,[Disease],Necrobiotic xanthogranuloma,,"Necrobiotic xanthogranuloma is a rare, chronic and progressive, non-Langerhans cell histiocytosis disease typically characterized by multiple, indurated, asymptomatic to pruritic, yellow-orange plaques or nodules that tend to ulcerate and are usually located in the periorbital area, trunk and/or extremities. Strong association with paraproteinemia and/or malignant lymphoproliferative disease has been reported.",,,,,,Necrobiotic xanthogranuloma,TRUE,FALSE,Active +GARD:10952,Legacy,GARD,,,,,,,,,,,,Bow hunter's stroke,TRUE,FALSE,Active +GARD:10953,Legacy,GARD,,,,,,,,,,,,MTHFR gene variant,FALSE,FALSE,Active +GARD:10954,Active,Orphanet,ORPHA:6,Disorder,[Disease],3-methylcrotonyl-CoA carboxylase deficiency,"[3-methylcrotonylglycinuria, MCC deficiency, MCCD]",A rare inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.,"[210210, 210200]",,,,,3-methylcrotonyl-CoA carboxylase deficiency,TRUE,FALSE,Active +GARD:10955,Active,Orphanet,ORPHA:648,Disorder,[Malformation syndrome],Noonan syndrome,,"A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood.","[611553, 609942, 618624, 605275, 613224, 613706, 616559, 619087, 615355, 616564, 618499, 163950, 610733]",,,,,Noonan syndrome,TRUE,FALSE,Active +GARD:10956,Active,Orphanet,ORPHA:331223,Group of disorders,[Clinical group],Hyper-IgE syndrome,,,,,,,,Hyper IgE syndrome,TRUE,FALSE,Active +GARD:10957,Active,Orphanet,ORPHA:209981,Disorder,[Disease],IRIDA syndrome,[Iron-refractory iron deficiency anemia],"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.",[206200],,,,,Iron-refractory iron deficiency anemia,TRUE,FALSE,Active +GARD:10958,Active,Orphanet,ORPHA:55,Group of disorders,[Clinical group],Oculocutaneous albinism,[OCA],"A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8.",,,,,,Oculocutaneous albinism,TRUE,FALSE,Active +GARD:10959,Active,Orphanet,ORPHA:314777,Disorder,[Disease],Familial isolated pituitary adenoma,[FIPA],"A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain.",[102200],,,,,Familial isolated pituitary adenoma,TRUE,FALSE,Active +GARD:1096,Active,Orphanet,ORPHA:555877,Disorder,[Morphological anomaly],FLNA-related X-linked myxomatous valvular dysplasia,"[FLNA-related valvular dystrophy, Filamin A-related X-linked myxomatous valvular dysplasia]","A rare genetic cardiac malformation characterized by progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation, and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females.",[314400],,,,,X-linked cardiac valvular dysplasia,TRUE,FALSE,Active +GARD:10960,Legacy,GARD,,,,,,,,,,,,Linear IgA disease,TRUE,FALSE,Active +GARD:10961,Legacy,GARD,,,,,,,,,,,,Collagenous gastritis,TRUE,FALSE,Active +GARD:10962,Active,Orphanet,ORPHA:284227,Disorder,[Clinical syndrome],TEMPI syndrome,[Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome],"TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.",,,,,,TEMPI syndrome,TRUE,FALSE,Active +GARD:10963,Legacy,GARD,,,,,,,,,,,,Pyogenic granuloma,FALSE,FALSE,Active +GARD:10964,Active,Orphanet,ORPHA:99921,Subtype of disorder,[Clinical subtype],Chronic graft versus host disease,,,,,,,,Chronic graft versus host disease,TRUE,FALSE,Active +GARD:10965,Active,Orphanet,ORPHA:313855,Disorder,[Disease],FGFR2-related bent bone dysplasia,[Perinatal lethal bent bone dysplasia],"FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated.",[614592],,,,,Bent bone dysplasia syndrome,TRUE,FALSE,Active +GARD:10966,Active,Orphanet,ORPHA:85414,Disorder,[Disease],Systemic-onset juvenile idiopathic arthritis,"[Still disease, Systemic-onset JIA]","A rare pediatric rheumatological disease characterized by the variable occurrence of chronic arthritis, intermittently high spiking fever, maculopapular rash during fever episodes, hepatomegaly and/or splenomegaly, lymphadenopathy, and serositis.","[604302, 618795]",,,,,Systemic onset juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:10967,Legacy,GARD,,,,,,,,,,,,Polyarticular onset juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:10968,Legacy,GARD,,,,,,,,,,,,Pauciarticular onset juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:10969,Active,Orphanet,ORPHA:85438,Disorder,[Disease],Enthesitis-related juvenile idiopathic arthritis,"[Enthesitis-related JIA, Juvenile ERA]","A rare inflammatory rheumatic disease in a child younger than 16 years characterized by arthritis and/or enthesitis and/or acute anterior uveitis. The most commonly affected joints at diagnosis are the knees, ankles, and hips. The small joints of the feet and toes are also often involved.",,,,,,Enthesitis-related juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:1097,Legacy,GARD,,,,,,,,,,,,Cardiofacial syndrome short limbs,TRUE,FALSE,Active +GARD:10970,Active,Orphanet,ORPHA:85436,Disorder,[Disease],Psoriasis-related juvenile idiopathic arthritis,"[Juvenile psoriatic arthritis, Psoriasis-related JIA]","A rare pediatric inflammatory rheumatic disease characterized by the presence of arthritis accompanied by either psoriasis or at least two of the following supporting features; presence of nail pitting, onycholysis, dactylitis, or a family history of psoriasis in a first degree relative. Patients are younger than 16 years of age and the disease lasts longer than 6 weeks.",,,,,,Psoriatic juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:10971,Legacy,GARD,,,,,,,,,,,,"Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy",TRUE,FALSE,Retired +GARD:10972,Active,Orphanet,ORPHA:1597,Disorder,[Malformation syndrome],Distal monosomy 17q,"[Distal 17q deletion, Monosomy 17qter, Telomeric deletion 17q]","A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.",,,,,,Chromosome 17q deletion,TRUE,FALSE,Active +GARD:10973,Active,Orphanet,ORPHA:79262,Disorder,[Disease],Adult neuronal ceroid lipofuscinosis,"[ANCL, Adult NCL, Kufs disease]","A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.","[610127, 615362, 204300, 601780, 256730, 614706, 162350]",,,,,Adult neuronal ceroid lipofuscinosis,TRUE,FALSE,Active +GARD:10974,Active,Orphanet+OMIM,OMIM:609634,Subtype of disorder,[Disease subtype],"Migraine, familial hemiplegic, 3",,"Familial hemiplegic migraine-3 (FHM3) is a severe subtype of migraine with aura characterized by some degree of hemiparesis during the attacks ({1:Dichgans et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FHM, see FHM1 ({141500}).",[609634],[569],[Familial or sporadic hemiplegic migraine],[10768],,Familial hemiplegic migraine type 3,TRUE,FALSE,Retired +GARD:10975,Legacy,GARD,,,,,,,,,,,,Familial hemiplegic migraine,TRUE,FALSE,Active +GARD:10976,Legacy,GARD,,,,,,,,,,,,Ulcerative proctitis,TRUE,FALSE,Active +GARD:10977,Active,Orphanet,ORPHA:98523,Group of disorders,[Clinical group],Non-syndromic pontocerebellar hypoplasia,"[PCH, Pontoneocerebellar atrophy, Pontoneocerebellar hypoplasia]","A rare group of neurodegenerative disorders with a prenatal onset characterized by hypoplasia and/or atrophy of the cerebellum and pons. Involvement of supratentorial structures is variable. Multiple forms have been described based on severity, age of onset and clinical presentation.",,,,,,Pontocerebellar hypoplasia,TRUE,FALSE,Active +GARD:10978,Legacy,GARD,,,,,,,,,,,,Chromosome Xp deletion,TRUE,FALSE,Active +GARD:10979,Legacy,GARD,,,,,,,,,,,,Lymphangiomatosis,TRUE,FALSE,Active +GARD:10980,Active,Orphanet,ORPHA:227982,Disorder,[Disease],Autoimmune polyendocrinopathy type 3,"[APS type 3, APS3, Autoimmune polyendocrine syndrome type 3, Autoimmune polyglandular syndrome type 3]","A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.",,,,,,Autoimmune polyglandular syndrome type 3,TRUE,FALSE,Active +GARD:10981,Active,Orphanet,ORPHA:313808,Disorder,[Disease],Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia,"[ALSP, Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, Autosomal dominant leukoencephalopathy with neuroaxonal spheroids, FPSG, Familial dementia, Neumann type, Familial progressive subcortical gliosis, GPSC, HDLS, Hereditary diffuse leukoencephalopathy with spheroids, POLD, Pigmentary orthochromatic leukodystrophy, Subcortical gliosis of Neumann]","Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.",[221820],,,,,Hereditary diffuse leukoencephalopathy with spheroids,TRUE,FALSE,Active +GARD:10982,Legacy,GARD,,,,,,,,,,,,Isochromosome Yp,TRUE,FALSE,Active +GARD:10983,Active,Orphanet,ORPHA:79152,Disorder,[Disease],Disseminated superficial actinic porokeratosis,,"A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.","[614714, 616631, 607728, 175900, 612353, 616063, 612293]",,,,,Disseminated superficial actinic porokeratosis,TRUE,FALSE,Active +GARD:10984,Active,Orphanet,ORPHA:319552,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,"[MSMD due to complete IL12RB1 deficiency, MSMD due to complete interleukin 12 receptor beta 1 deficiency, Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency]",Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.,[614891],,,,,IL12RB1 deficiency,TRUE,FALSE,Active +GARD:10985,Active,Orphanet,ORPHA:54260,Disorder,[Disease],Left ventricular noncompaction,"[LVNC, Left ventricular hypertrabeculation, Spongy myocardium]","A rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.","[615396, 613426, 615092, 609470, 613424, 604169, 601493, 615373, 601494, 611878]",,,,,Left ventricular noncompaction,TRUE,FALSE,Active +GARD:10986,Active,Orphanet,ORPHA:33111,Disorder,[Disease],Granulomatous slack skin,,"Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.",,,,,,Granulomatous slack skin disease,TRUE,FALSE,Active +GARD:10987,Legacy,GARD,,,,,,,,,,,,Cauda equina syndrome,TRUE,FALSE,Active +GARD:10988,Legacy,GARD,,,,,,,,,,,,JMP syndrome,TRUE,FALSE,Active +GARD:10989,Active,Orphanet,ORPHA:363649,Disorder,[Disease],Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,"[MDP syndrome, MDPL syndrome, Mandibular hypoplasia-hearing loss-progeroid syndrome]","A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglycemia and diabetes mellitus/insulin resistance.",[615381],,,,,"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome",TRUE,FALSE,Active +GARD:1099,Legacy,GARD,,,,,,,,,,,,Cardiomelic syndrome Stratton Koehler type,TRUE,FALSE,Active +GARD:10990,Legacy,GARD,,,,,,,,,,,,Chromosome 15q25.2 microdeletion,TRUE,FALSE,Active +GARD:10991,Active,Orphanet,ORPHA:254346,Disorder,[Malformation syndrome],19p13.12 microdeletion syndrome,"[Del(19)(p13.12), Monosomy 19p13.12]","19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.",,,,,,19p13.12 microdeletion syndrome,TRUE,FALSE,Active +GARD:10992,Active,Orphanet,ORPHA:254343,Disorder,[Disease],Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,"[Autosomal recessive spastic ataxia type 4, SPAX4]","A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.",[613672],,,,,Autosomal recessive spastic ataxia 4,TRUE,FALSE,Active +GARD:10993,Legacy,GARD,,,,,,,,,,,,Superior semicircular canal dehiscence syndrome,TRUE,FALSE,Active +GARD:10994,Active,Orphanet,ORPHA:85201,Disorder,[Malformation syndrome],Genitopatellar syndrome,[Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome],"Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.",[606170],,,,,Genitopatellar syndrome,TRUE,FALSE,Active +GARD:10995,Active,Orphanet,ORPHA:402364,Disorder,[Malformation syndrome],Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,,"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.",[613668],,,,,"Postnatal progressive microcephaly, seizures, and brain atrophy",TRUE,FALSE,Active +GARD:10996,Active,Orphanet,ORPHA:319171,Disorder,[Malformation syndrome],Distal 17p13.1 microdeletion syndrome,[Distal del(17)(p13.1)],"Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.",,,,,,Chromosome 17p13.1 deletion syndrome,TRUE,FALSE,Active +GARD:10997,Active,Orphanet,ORPHA:284984,Disorder,[Disease],Aneurysm-osteoarthritis syndrome,,"A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.",[613795],,,,,Loeys-Dietz syndrome type 3,TRUE,FALSE,Active +GARD:10998,Active,Orphanet,ORPHA:228402,Disorder,[Malformation syndrome],2q23.1 microdeletion syndrome,"[Del(2)(q23.1), Monosomy 2q23.1, Pseudo-Angelman syndrome]","The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.",[156200],,,,,2q23.1 microdeletion syndrome,TRUE,FALSE,Active +GARD:10999,Active,Orphanet,ORPHA:280763,Disorder,[Disease],Severe intellectual disability and progressive spastic paraplegia,[AP4 deficiency syndrome],"Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.","[612936, 614066, 614067, 613744]",,,,,Spastic paraplegia 51,TRUE,FALSE,Active +GARD:11,Active,Orphanet,ORPHA:2131,Disorder,[Disease],Alternating hemiplegia of childhood,[AHC],"A rare, genetic, neurodevelopmental disorder characterized by early-onset of recurrent, transient episodes of hemiplegia (including quadriplegia), which typically disappear upon sleep.","[614820, 104290]",,,,,Alternating hemiplegia of childhood,TRUE,FALSE,Active +GARD:1100,Active,Orphanet,ORPHA:500,Disorder,[Malformation syndrome],Noonan syndrome with multiple lentigines,"[Cardiomyopathic lentiginosis, Familial multiple lentigines syndrome, LEOPARD syndrome]","A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.","[611554, 151100, 613707]",,,,,LEOPARD syndrome,TRUE,FALSE,Active +GARD:11000,Active,Orphanet,ORPHA:319651,Disorder,[Disease],Constitutional megaloblastic anemia with severe neurologic disease,"[DHFR deficiency, Dihydrofolate reductase deficiency]",,[613839],,,,,Megaloblastic anemia due to dihydrofolate reductase deficiency,TRUE,FALSE,Active +GARD:11001,Legacy,GARD,,,,,,,,,,,,Slipped capital femoral epiphysis,FALSE,FALSE,Active +GARD:11002,Legacy,GARD,,,,,,,,,,,,Chromosome Xq deletion,TRUE,FALSE,Active +GARD:11003,Active,Orphanet,ORPHA:401996,Disorder,[Disease],Karyomegalic interstitial nephritis,"[KIN, Systemic karyomegaly]","Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.",[614817],,,,,Karyomegalic interstitial nephritis,TRUE,FALSE,Active +GARD:11004,Active,Orphanet,ORPHA:79150,Disorder,[Disease],Linear and whorled nevoid hypermelanosis,[LWNH],"A rare hyperpigmentation of the skin disease characterized by the congenital to infantile-onset of bilateral, diffuse (occasionally localized), reticulate (swirls and streaks), macular hyperpigmentation following the lines of Blaschko, typically involving the trunk, limbs, head and neck (but sparing palms, soles and mucosa), without preceding inflammation, blistering or atrophy. Occasionally, extracutaneous abnormalities, including autism, seizures, cardiac defects, skeletal abnormalities and developmental delay, may be associated. Histologically, basal and/or suprabasal melanosis, without pigment incontinence, is observed.",[614323],,,,,Linear and whorled nevoid hypermelanosis,TRUE,FALSE,Active +GARD:11005,Active,Orphanet,ORPHA:163703,Disorder,[Disease],Febrile infection-related epilepsy syndrome,"[AERRPS, Acute encephalitis with refractory repetitive partial seizures, Acute non-herpetic encephalitis with severe refractory status epilepticus, DESC syndrome, Devastating epileptic encephalopathy in school-aged children, FIRES, Fever-induced refractory epileptic encephalopathy in school-aged children, Idiopathic catastrophic epileptic encephalopathy, Severe refractory status epilepticus owing to presumed encephalitis]","A rare, potentially fatal , epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.",,,,,,Febrile infection-related epilepsy syndrome,TRUE,FALSE,Active +GARD:11006,Active,Orphanet,ORPHA:300501,Disorder,[Malformation syndrome],Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,,"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.",,,,,,Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,TRUE,FALSE,Active +GARD:11007,Active,Orphanet,ORPHA:300504,Disorder,[Disease],Onychocytic matricoma,[Acanthoma of the nail matrix],"Onychocytic matricoma is a rare, benign, nail tumor originating in the nail matrix characterized by localized pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumor with endokeratinization in the deep portion and concentrically arranged nests of prekeratogenous and keratogenous cells.",,,,,,Onychocytic matricoma,TRUE,FALSE,Active +GARD:11008,Active,Orphanet,ORPHA:280576,Disorder,[Malformation syndrome],Nestor-Guillermo progeria syndrome,[NGPS],"Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.",[614008],,,,,Nestor-guillermo progeria syndrome,TRUE,FALSE,Active +GARD:11009,Active,Orphanet,ORPHA:280586,Disorder,[Malformation syndrome],"Chondrodysplasia with joint dislocations, gPAPP type",[gPAPP deficiency],"Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.",[614078],,,,,"Chondrodysplasia with joint dislocations, GPAPP type",TRUE,FALSE,Active +GARD:11010,Active,Orphanet,ORPHA:280598,Disorder,[Disease],Hereditary sensorimotor neuropathy with hyperelastic skin,,"Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated.",[608895],,,,,Hereditary sensorimotor neuropathy with hyperelastic skin,TRUE,FALSE,Active +GARD:11011,Active,Orphanet,ORPHA:641,Disorder,[Disease],Multifocal motor neuropathy,"[MMN, MMNCB, Multifocal motor neuropathy with conduction block]","Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.",,,,,,Multifocal motor neuropathy,TRUE,FALSE,Active +GARD:11012,Legacy,GARD,,,,,,,,,,,,Myelodysplastic syndrome with single lineage dysplasia,TRUE,FALSE,Active +GARD:1102,Active,Orphanet,ORPHA:1345,Disorder,[Disease],Cardiomyopathy-cataract-hip spine disease syndrome,[Krasnow-Qazi syndrome],"A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.",,,,,,Cardiomyopathy cataract hip spine disease,TRUE,FALSE,Active +GARD:1103,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy diabetes deafness,TRUE,FALSE,Active +GARD:1104,Active,Orphanet+OMIM,OMIM:115200,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1a","[Cardiomyopathy, dilated, with conduction defect 1, cardiomyopathy, familial idiopathic, cardiomyopathy, idiopathic dilated, cardiomyopathy, congestive]","Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by {26:Levitas et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Dilated Cardiomyopathy\n\nMutations in many other genes have been found to cause different forms of autosomal dominant dilated cardiomyopathy. These include CMD1C ({601493}), with or without left ventricular noncompaction, caused by mutation in the LDB3 gene ({605906}) on 10q23; CMD1D ({601494}), caused by mutation in the TNNT2 gene ({191045}) on 1q32; CMD1E ({601154}), caused by mutation in the SCN5A gene ({600163}) on 3p22; CMD1G ({604145}), caused by mutation in the TTN gene ({188840}) on 2q31; CMD1I ({604765}), caused by mutation in the DES gene ({125660}) on 2q35; CMD1J ({605362}), caused by mutation in the EYA4 gene ({603550}) on 6q23; CMD1L ({606685}), caused by mutation in the SGCD gene ({601411}) on 5q33; CMD1M ({607482}), caused by mutation in the CSRP3 gene ({600824}) on 11p15; CMD1O ({608569}), caused by mutation in the ABCC9 gene ({601439}) on 12p12; CMD1P ({609909}), caused by mutation in the PLN gene ({172405}) on 6q22; CMD1R ({613424}), caused by mutation in the ACTC gene ({102540}) on 15q14; CMD1S ({613426}), caused by mutation in the MYH7 gene ({160760}) on 14q12; CMD1U ({613694}), caused by mutation in the PSEN1 gene ({104311}) on 14q24; CMD1V ({613697}), caused by mutation in the PSEN2 gene ({600759}) on 1q42; CMD1W ({611407}), caused by mutation in the gene encoding metavinculin (VCL; {193065}) on 10q22; CMD1X ({611615}), caused by mutation in the gene encoding fukutin (FKTN; {607440}) on 9q31; CMD1Y ({611878}), caused by mutation in the TPM1 gene ({191010}) on 15q22; CMD1Z ({611879}), caused by mutation in the TNNC1 gene ({191040}) on 3p21; CMD1AA ({612158}), caused by mutation in the ACTN2 gene ({102573}) on 1q43; CMD1BB ({612877}), caused by mutation in the DSG2 gene ({125671}) on 18q12; CMD1CC ({613122}), caused by mutation in the NEXN gene ({613121}) on 1p31; CMD1DD ({613172}), caused by mutation in the RBM20 gene ({613171}) on 10q25; CMD1EE ({613252}), caused by mutation in the MYH6 gene ({160710}) on 14q12; CMD1FF ({613286}), caused by mutation in the TNNI3 gene ({191044}) on 19q13; CMD1GG ({613642}), caused by mutation in the SDHA gene ({600857}) on 5p15; and CMD1HH ({613881}), caused by mutation in the BAG3 gene ({603883}) on 10q26; CMD1II ({615184}), caused by mutation in the CRYAB gene ({123590}) on 6q21; CMD1JJ ({615235}), caused by mutation in the LAMA4 gene ({600133}) on 6q21; CMD1KK ({615248}), caused by mutation in the MYPN gene ({608517}) on 10q21; CMD1LL ({615373}), caused by mutation in the PRDM16 gene ({605557}) on 1p36; CMD1MM (see {615396}), caused by mutation in the MYBPC3 gene ({600958}) on 11p11; and CMD1NN ({615916}), caused by mutation in the RAF1 gene ({164760}) on 3p25.\n\nSeveral additional loci for autosomal dominant familial dilated cardiomyopathy have been mapped: CMD1B ({600884}) on 9q13; CMD1H ({604288}) on 2q14-q22; CMD1K ({605582}) on 6q12-q16; and CMD1Q ({609915}) on 7q22.3-q31.1.\n\nAutosomal recessive CMD includes CMD2A ({611880}), caused by mutation in the TNNI3 gene ({191044}) on 19q13; CMD2B ({614672}), caused by mutation in the GATAD1 gene ({614518}) on 7q21; CMD2C ({618189}), caused by mutation in the PPCS gene ({609853}) on 1p34; CMD2D ({619371}), caused by mutation in the RPL3L gene ({617416}) on 16p13; CMD2E ({619492}), caused by mutation in the JPH2 gene ({605267}) on chromosome 20q13; and CMD2F ({619747}), caused by mutation in the BAG5 gene ({603885}) on chromosome 14q32.\n\nAn X-linked form of CMD (CMD3B; {302045}) is caused by mutation in the DMD gene ({300377}). An X-linked form previously designated CMD3A was found to be the same as Barth syndrome ({302060}).\n\n<Subhead> Reclassified CMD Symbols\n\nThe symbol CMD1F was formerly used for a disorder later found to be the same as desmin-related myopathy ({601419}).\n\nThe symbol CMD1N (see {607487}) was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TCAP gene ({604488.0003}); this variant has subsequently been reclassified as a variant of unknown significance.\n\nThe symbol CMD1T was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TMPO gene ({188380.0001}); this variant has subsequently been reclassified as a variant of unknown significance.",[115200],[154],[Familial isolated dilated cardiomyopathy],[2905],,Dilated cardiomyopathy 1A,TRUE,FALSE,Active +GARD:1107,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy due to anthracyclines,TRUE,FALSE,Active +GARD:1108,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy and deafness due to tRNA lysine gene mutation,TRUE,FALSE,Active +GARD:1109,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy hypogonadism metabolic anomalies,TRUE,FALSE,Active +GARD:111,Active,Orphanet,ORPHA:60032,Disorder,[Disease],Recurrent respiratory papillomatosis,,"Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory tract infections, pneumonia, dysphagia, stridor, and/or failure to thrive.",,,,,,Recurrent respiratory papillomatosis,TRUE,FALSE,Active +GARD:1110,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy spherocytosis,TRUE,FALSE,Active +GARD:1113,Legacy,GARD,,,,,,,,,,,,Fatal infantile encephalomyopathy,TRUE,FALSE,Active +GARD:1117,Legacy,GARD,,,,,,,,,,,,Carnevale Hernandez Castillo syndrome,TRUE,FALSE,Active +GARD:1118,Active,Orphanet,ORPHA:293843,Disorder,[Malformation syndrome],3MC syndrome,"[Craniofacial-ulnar-renal syndrome, Malpuech-Michels-Mingarelli-Carnevale syndrome]","A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.","[248340, 257920, 265050]",,,,,3MC syndrome,TRUE,FALSE,Active +GARD:1119,Active,Orphanet,ORPHA:1359,Disorder,[Disease],Carney complex,"[Carney syndrome, Myxoma-spotty pigmentation-endocrine overactivity syndrome]","Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.","[160980, 605244]",,,,,Carney complex,TRUE,FALSE,Active +GARD:112,Active,Orphanet,ORPHA:70587,Disorder,[Disease],Infant acute respiratory distress syndrome,"[Hyaline membrane disease, Infant ARDS, Infant respiratory distress syndrome, Neonatal respiratory distress syndrome]","Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.",[267450],,,,,"Respiratory distress syndrome, infant",TRUE,FALSE,Active +GARD:1120,Active,Orphanet,ORPHA:156,Disorder,[Disease],Carnitine palmitoyl transferase 1A deficiency,"[CPT1A deficiency, Carnitine palmitoyl transferase IA deficiency, Hepatic carnitine palmitoyl transferase 1 deficiency, Hepatic carnitine palmitoyl transferase I deficiency, L-CPT1 deficiency, L-CPTI deficiency]","Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.",[255120],,,,,Carnitine palmitoyl transferase 1A deficiency,TRUE,FALSE,Active +GARD:1121,Active,Orphanet,ORPHA:157,Disorder,[Disease],Carnitine palmitoyltransferase II deficiency,"[CPT2, CPTII, Carnitine palmitoyltransferase deficiency type 2]","Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).","[608836, 255110, 600649]",,,,,Carnitine palmitoyltransferase 2 deficiency,TRUE,FALSE,Active +GARD:1123,Active,Orphanet,ORPHA:159,Disorder,[Disease],Carnitine-acylcarnitine translocase deficiency,[CACT deficiency],"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.",[212138],,,,,Carnitine-acylcarnitine translocase deficiency,TRUE,FALSE,Active +GARD:1125,Legacy,GARD,,,,,,,,,,,,cataract glaucoma,TRUE,FALSE,Retired +GARD:1128,Active,Orphanet,ORPHA:2767,Disorder,[Malformation syndrome],Carpotarsal osteochondromatosis,[Maroteaux-Le Merrer-Bensahel syndrome],Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.,[127820],,,,,Carpotarsal osteochondromatosis,TRUE,FALSE,Active +GARD:1129,Legacy,GARD,,,,,,,,,,,,Carpo tarsal osteolysis recessive,TRUE,FALSE,Active +GARD:113,Legacy,GARD,,,,,,,,,,,,"Retinopathy, arteriosclerotic",TRUE,FALSE,Active +GARD:1130,Active,Orphanet,ORPHA:2902,Disorder,[Disease],Idiopathic chronic eosinophilic pneumonia,[Chronic eosinophilic pneumonia],"A rare, severe, interstitial lung disease characterized by insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss) and a history of asthma (up to half of patients). Eosinophilia is present in most cases, usually in excess of 1000 cells/mm3.",,,,,,Chronic eosinophilic pneumonia,TRUE,FALSE,Active +GARD:1132,Legacy,GARD,,,,,,,,,,,,Cartwright Nelson Fryns syndrome,TRUE,FALSE,Active +GARD:1133,Active,Orphanet,ORPHA:85288,Disorder,[Malformation syndrome],"X-linked intellectual disability, Stocco Dos Santos type",,"X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.",[300434],,,,,Stocco dos Santos syndrome,TRUE,FALSE,Active +GARD:1139,Active,Orphanet,ORPHA:1366,Disorder,[Disease],Autosomal recessive palmoplantar keratoderma and congenital alopecia,"[Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia, Cataract-alopecia-sclerodactyly syndrome, PPK-CA, Wallis type, Palmoplantar keratoderma and congenital alopecia, Wallis type]","Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.",[212360],,,,,Autosomal recessive palmoplantar keratoderma and congenital alopecia,TRUE,FALSE,Active +GARD:114,Active,Orphanet,ORPHA:99014,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 5,"[CMT5X, CMTX5]","A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy.",[311070],,,,,X-linked Charcot-Marie-Tooth disease type 5,TRUE,FALSE,Active +GARD:1140,Active,Orphanet,ORPHA:98988,Subtype of disorder,[Clinical subtype],Early-onset anterior polar cataract,[Early-onset anterior subcapsular cataract],,[601202],,,,,Early-onset anterior polar cataract,TRUE,FALSE,Active +GARD:1141,Active,Orphanet,ORPHA:1368,Disorder,[Disease],Cataract-ataxia-deafness syndrome,[Cataract-ataxia-hearing loss syndrome],"A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.",[212710],,,,,Cataract ataxia deafness,TRUE,FALSE,Active +GARD:1142,Active,Orphanet,ORPHA:1369,Disorder,[Disease],Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,[Sengers syndrome],"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.","[212350, 615418]",,,,,Sengers syndrome,TRUE,FALSE,Active +GARD:1143,Legacy,GARD,,,,,,,,,,,,Cataract congenital autosomal dominant,TRUE,FALSE,Active +GARD:1144,Active,Orphanet+OMIM,OMIM:115700,Subtype of disorder,[Malformation syndrome subtype],"Cataract 4, multiple types","[Cataract 4, multiple types, with or without microcornea, cataract, punctate, progressive juvenile-onset, cataract, congenital, cerulean type, 3, cataract, nonnuclear polymorphic congenital, cataract, crystalline aculeiform]","Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. Some patients also exhibit microcornea.\n\nBecause multiple types of cataract are caused by mutation in the CRYGD gene, some of which display intrafamilial variability, several earlier distinct cataract entries in OMIM have been included here.",[115700],[1377],[Cataract-microcornea syndrome],[1155],,Cataract congenital dominant non nuclear,TRUE,FALSE,Active +GARD:1145,Legacy,GARD,,,,,,,,,,,,Cataract and congenital ichthyosis,TRUE,FALSE,Active +GARD:1146,Legacy,GARD,,,,,,,,,,,,Cataract congenital Volkmann type,TRUE,FALSE,Active +GARD:115,Legacy,GARD,,,,,,,,,,,,Sakati syndrome,TRUE,FALSE,Retired +GARD:1150,Legacy,GARD,,,,,,,,,,,,Cataract Hutterite type,TRUE,FALSE,Active +GARD:1152,Legacy,GARD,,,,,,,,,,,,Cataract - hypertrichosis - intellectual disability,TRUE,FALSE,Retired +GARD:1154,Legacy,GARD,,,,,,,,,,,,Cataract-mental retardation-hypogonadism syndrome,TRUE,FALSE,Retired +GARD:1155,Active,Orphanet,ORPHA:1377,Disorder,[Malformation syndrome],Cataract-microcornea syndrome,,Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.,"[116200, 601547, 604219, 115700]",,,,,Cataract microcornea syndrome,TRUE,FALSE,Active +GARD:1157,Legacy,GARD,,,,,,,,,,,,Cataract microphthalmia septal defect,TRUE,FALSE,Retired +GARD:1158,Legacy,GARD,,,,,,,,,,,,Cataract skeletal anomalies,TRUE,FALSE,Active +GARD:1159,Active,Orphanet,ORPHA:98994,Subtype of disorder,[Clinical subtype],Total early-onset cataract,,,"[601547, 616509, 618415]",,,,,"Cataract, total congenital",TRUE,FALSE,Active +GARD:116,Active,Orphanet,ORPHA:79279,Subtype of disorder,[Clinical subtype],Alpha-N-acetylgalactosaminidase deficiency type 1,"[NAGA deficiency type 1, Schindler disease type 1]",A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.,[609241],,,,,Schindler disease type 1,TRUE,FALSE,Active +GARD:1160,Active,Orphanet,ORPHA:162,Disorder,[Malformation syndrome],Cataract-glaucoma syndrome,,Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.,,,,,,Cataract-glaucoma,TRUE,FALSE,Active +GARD:1163,Active,Orphanet,ORPHA:1123,Disorder,[Malformation syndrome],Caudal appendage-deafness syndrome,"[Caudal appendage-hearing loss syndrome, Lynch-Lee-Murday syndrome]","Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.",,,,,,Caudal appendage deafness,TRUE,FALSE,Active +GARD:1164,Active,Orphanet,ORPHA:1756,Disorder,[Malformation syndrome],Caudal duplication,"[Dipygus, Split notochord syndrome]",Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.,[607864],,,,,Caudal duplication,TRUE,FALSE,Active +GARD:1167,Active,Orphanet,ORPHA:2008,Disorder,[Malformation syndrome],Acrocardiofacial syndrome,"[ACFS, CCGE syndrome, Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome]","A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.",[600460],,,,,Acrocardiofacial syndrome,TRUE,FALSE,Active +GARD:117,Active,Orphanet,ORPHA:798,Disorder,[Malformation syndrome],Schinzel-Giedion syndrome,[SGS],"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.",[269150],,,,,Schinzel Giedion syndrome,TRUE,FALSE,Active +GARD:1173,Legacy,GARD,,,,,,,,,,,,CDG syndrome type 3,TRUE,FALSE,Retired +GARD:1174,Legacy,GARD,,,,,,,,,,,,CDG syndrome type 4,TRUE,FALSE,Active +GARD:1175,Legacy,GARD,,,,,,,,,,,,CDK4 linked melanoma,TRUE,FALSE,Active +GARD:1179,Legacy,GARD,,,,,,,,,,,,Cennamo Gangemi syndrome,TRUE,FALSE,Active +GARD:118,Active,Orphanet,ORPHA:3138,Disorder,[Malformation syndrome],Ulnar-mammary syndrome,"[Pallister ulnar-mammary syndrome, Schinzel syndrome, UMS]","A rare congenital anomalies syndrome characterized by a variable spectrum of ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. The most frequent signs include fifth finger and dental anomalies, delayed puberty and mammary hypoplasia. Short stature and obesity are common.",[181450],,,,,Ulnar-mammary syndrome,TRUE,FALSE,Active +GARD:11853,Legacy,GARD,,,,,,,,,,,,Síndrome de Smith-Magenis,TRUE,TRUE,Active +GARD:11854,Legacy,GARD,,,,,,,,,,,,Cone rod dystrophy,TRUE,FALSE,Retired +GARD:11855,Active,Orphanet,ORPHA:314422,Disorder,[Disease],Ameloblastic carcinoma,,"A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The tumor may metastasize, most commonly to the cervical lymph nodes and the lungs.",,,,,,Ameloblastic carcinoma,TRUE,FALSE,Active +GARD:11856,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan,TRUE,TRUE,Active +GARD:11857,Legacy,GARD,,,,,,,,,,,,Cáncer gástrico difuso,TRUE,TRUE,Active +GARD:11858,Legacy,GARD,,,,,,,,,,,,Síndrome de Bardet-Biedl,TRUE,TRUE,Active +GARD:11859,Legacy,GARD,,,,,,,,,,,,Acidemia metilmalónica,TRUE,TRUE,Active +GARD:11860,Legacy,GARD,,,,,,,,,,,,Síndrome de Li-Fraumeni,TRUE,TRUE,Active +GARD:11861,Legacy,GARD,,,,,,,,,,,,Síndrome de McCune-Albright,TRUE,TRUE,Active +GARD:11862,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 1,TRUE,TRUE,Active +GARD:11863,Legacy,GARD,,,,,,,,,,,,Pioderma gangrenosum,TRUE,TRUE,Active +GARD:11864,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal,TRUE,TRUE,Active +GARD:11865,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal tipo 1,TRUE,TRUE,Active +GARD:11866,Legacy,GARD,,,,,,,,,,,,Síndrome de triple X,TRUE,TRUE,Active +GARD:11867,Legacy,GARD,,,,,,,,,,,,"Agammaglobulinemia, X-linked",TRUE,FALSE,Retired +GARD:11868,Legacy,GARD,,,,,,,,,,,,Hipoplasia cerebelar,TRUE,TRUE,Active +GARD:11869,Legacy,GARD,,,,,,,,,,,,Agenesia del cuerpo calloso,TRUE,TRUE,Active +GARD:1187,Legacy,GARD,,,,,,,,,,,,Cerebellar agenesis,TRUE,FALSE,Active +GARD:11870,Legacy,GARD,,,,,,,,,,,,Síndrome de Desbuquois,TRUE,TRUE,Active +GARD:11871,Legacy,GARD,,,,,,,,,,,,"Dyserythropoietic anemia, congenital type 2",TRUE,FALSE,Retired +GARD:11872,Legacy,GARD,,,,,,,,,,,,"Polysyndactyly, microcephaly, ptosis",TRUE,FALSE,Retired +GARD:11873,Legacy,GARD,,,,,,,,,,,,HRHS,FALSE,TRUE,Retired +GARD:11874,Legacy,GARD,,,,,,,,,,,,"Myositis, inclusion body",TRUE,FALSE,Retired +GARD:11875,Legacy,GARD,,,,,,,,,,,,Pie zambo congénito,TRUE,TRUE,Draft +GARD:11876,Legacy,GARD,,,,,,,,,,,,Enfermedad de Charcot-Marie-Tooth,TRUE,TRUE,Active +GARD:11877,Legacy,GARD,,,,,,,,,,,,Enfermedad de Fabry,TRUE,TRUE,Active +GARD:11878,Legacy,GARD,,,,,,,,,,,,Miohiperplasia hemifacial,TRUE,TRUE,Active +GARD:11879,Legacy,GARD,,,,,,,,,,,,Síndrome X frágil,TRUE,TRUE,Active +GARD:1188,Active,Orphanet,ORPHA:1171,Disorder,[Disease],Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,"[CAPOS syndrome, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome]","A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.",[601338],,,,,"Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss",TRUE,FALSE,Active +GARD:11880,Legacy,GARD,,,,,,,,,,,,Linfohistiocitosis hemofagocítica,TRUE,TRUE,Active +GARD:11881,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 3,TRUE,TRUE,Active +GARD:11882,Legacy,GARD,,,,,,,,,,,,Displasia campomélica,TRUE,TRUE,Active +GARD:11883,Legacy,GARD,,,,,,,,,,,,Síndrome de Down,FALSE,TRUE,Active +GARD:11884,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 2,TRUE,TRUE,Active +GARD:11885,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 4,TRUE,TRUE,Active +GARD:11886,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 5,TRUE,TRUE,Active +GARD:11887,Legacy,GARD,,,,,,,,,,,,Síndrome de Noonan 6,TRUE,TRUE,Active +GARD:11888,Legacy,GARD,,,,,,,,,,,,Polimicrogiria frontal bilateral,TRUE,TRUE,Draft +GARD:11889,Legacy,GARD,,,,,,,,,,,,Cáncer gástrico difuso hereditario,TRUE,TRUE,Active +GARD:1189,Active,Orphanet,ORPHA:1174,Disorder,[Malformation syndrome],Cerebellar ataxia-ectodermal dysplasia syndrome,,A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.,[212835],,,,,Cerebellar ataxia ectodermal dysplasia,TRUE,FALSE,Active +GARD:11890,Active,Orphanet,ORPHA:79189,Group of disorders,[Clinical group],Peroxisome biogenesis disorder,"[PBD-ZSD, Peroxisome biogenesis disorder spectrum, Peroxisome biogenesis disorder-Zellweger spectrum disorder]","Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms).",,,,,,Peroxisome biogenesis disorder-Zellweger syndrome spectrum,TRUE,FALSE,Active +GARD:11891,Legacy,GARD,,,,,,,,,,,,Propriospinal myoclonus,TRUE,FALSE,Active +GARD:11892,Active,Orphanet,ORPHA:53721,Disorder,[Malformation syndrome],Spinal arteriovenous metameric syndrome,"[Cobb syndrome, Cutaneomeningospinal angiomatosis, SAMS 1-31]","Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.",,,,,,Cobb syndrome,TRUE,FALSE,Active +GARD:11893,Active,Orphanet,ORPHA:2457,Disorder,[Malformation syndrome],Mandibuloacral dysplasia,[MAD],"Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.","[248370, 608612]",,,,,Mandibuloacral dysplasia,TRUE,FALSE,Active +GARD:11894,Active,Orphanet,ORPHA:60025,Disorder,[Disease],Pulmonary alveolar microlithiasis,,"A rare genetic respiratory disease characterized by widespread intra-alveolar accumulation of minute calcium phosphate microliths, leading to pulmonary fibrosis, pulmonary hypertension, and chronic respiratory failure. Age of onset is highly variable, and most patients are asymptomatic for years or decades, before signs and symptoms like dyspnea on exertion, dry cough, chest pain, hemoptysis, or finger clubbing develop. The disease takes a long-term progressive course. Routine chest radiographs typically show a fine, ''sandstorm-like'' micronodular pattern that is more pronounced in the bases than in the apices.",[265100],,,,,Pulmonary alveolar microlithiasis,TRUE,FALSE,Active +GARD:11895,Active,Orphanet,ORPHA:137672,Disorder,[Disease],Pellucid marginal degeneration,,"A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, non-ulcerative, non-inflammatory, clear thinning of the inferior portion of the peripheral cornea (extending from the 4 o'clock to the 8 o'clock position), with an area of corneal protrusion above the point of maximal thinning, resulting in against-the-rule astigmatism with decreased visual acuity. The central cornea is of normal thickness.",,,,,,Pellucid marginal degeneration,TRUE,FALSE,Active +GARD:11896,Legacy,GARD,,,,,,,,,,,,PDGFRB-associated chronic eosinophilic leukemia,TRUE,FALSE,Active +GARD:11897,Active,Orphanet,ORPHA:1871,Disorder,[Disease],Progressive cone dystrophy,[Cone dystrophy],"A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.","[180020, 300085, 304030, 613093, 602093]",,,,,Cone dystrophy,TRUE,FALSE,Active +GARD:11898,Active,Orphanet,ORPHA:254379,Disorder,[Disease],Linear lichen planus,"[Blaschkoid LP, Blaschkoid lichen planus, Linear LP]","Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.",,,,,,Linear lichen planus,TRUE,FALSE,Active +GARD:11899,Active,Orphanet,ORPHA:385,Group of disorders,[Clinical group],Neurodegeneration with brain iron accumulation,[NBIA],"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.",,,,,,Neurodegeneration with brain iron accumulation,TRUE,FALSE,Active +GARD:11900,Legacy,GARD,,,,,,,,,,,,Brittle diabetes,TRUE,FALSE,Active +GARD:11901,Active,Orphanet,ORPHA:300605,Disorder,[Disease],Juvenile amyotrophic lateral sclerosis,"[JALS, Juvenile Charcot disease, Juvenile Lou Gehrig disease]","Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.","[614373, 205100, 602099]",,,,,Juvenile amyotrophic lateral sclerosis,TRUE,FALSE,Active +GARD:11902,Active,Orphanet,ORPHA:590,Disorder,[Disease],Congenital myasthenic syndrome,[CMS],Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.,"[254190, 616313, 616720, 608930, 605809, 608931, 616227, 617143, 616228, 616330, 254210, 617239, 616324, 614198, 616325, 616304, 616224, 614750, 616326, 603034, 610542, 616321, 616322, 601462, 616314, 616323, 616040, 615120, 254300]",,,,,Congenital myasthenic syndromes,TRUE,FALSE,Active +GARD:11903,Active,Orphanet,ORPHA:70593,Disorder,[Disease],Immunodeficiency due to selective anti-polysaccharide antibody deficiency,[Specific anti-polysaccharide antibody deficiency],Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).,,,,,,Specific antibody deficiency,TRUE,FALSE,Active +GARD:11904,Active,Orphanet,ORPHA:137667,Disorder,[Malformation syndrome],Capillary malformation-arteriovenous malformation,[CM-AVM],This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.,[608354],,,,,Capillary malformation-arteriovenous malformation syndrome,TRUE,FALSE,Active +GARD:11905,Legacy,GARD,,,,,,,,,,,,Capillary malformation arteriovenus malformation,TRUE,FALSE,Retired +GARD:11906,Active,Orphanet,ORPHA:171886,Disorder,[Disease],Cylindrical spirals myopathy,,"Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.",,,,,,Cylindrical spirals myopathy,TRUE,FALSE,Active +GARD:11907,Active,Orphanet,ORPHA:86843,Disorder,[Disease],Acute panmyelosis with myelofibrosis,"[Acute myelodysplasia with myelofibrosis, Acute myelofibrosis, Acute myelosclerosis]","A rare unclassified acute myeloid leukemia characterized by an acute panmyeloid proliferation with blasts constituting more than 20% of cells in the bone marrow or peripheral blood, accompanied by fibrosis of the bone marrow. Patients typically present with acute onset of severe constitutional symptoms, bone pain, and pancytopenia. Splenomegaly is minimal or absent. The disease is rapidly progressive with poor therapy response.",,,,,,Acute panmyelosis with myelofibrosis,TRUE,FALSE,Active +GARD:11908,Active,Orphanet,ORPHA:166291,Disorder,[Disease],Dirofilariasis,,"Dirofilariasis is a form of filariasis (see this term), caused by the filarial nematode of the genus Dirofilaria (including Dirofilaria repens, Dirofilaria immitis), which is transmitted by mosquitoes. The disease is characterized by the presence of subcutaneous nodules (or a conjunctival form that develops slowly and that can be painless to tender), edema and erythema at the site of parasite localization, a feeling of 'crawling' under the skin, and the ''Calabar'' swelling (similar to thatin loiasis (see this term). The latter may last a few days and recurrences are possible. Common localizations of dirofilaria are head and neck, most commonly in the periorbital region, the limbs and trunk.",,,,,,Dirofilariasis,TRUE,FALSE,Active +GARD:11909,Legacy,GARD,,,,,,,,,,,,Engraftment syndrome,TRUE,FALSE,Active +GARD:1191,Active,Orphanet,ORPHA:254886,Disorder,[Disease],Autosomal recessive progressive external ophthalmoplegia,[arPEO],"A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.","[258450, 617069]",,,,,"Progressive external ophthalmoplegia, autosomal recessive 1 ",TRUE,FALSE,Active +GARD:11910,Active,Orphanet,ORPHA:79474,Disorder,[Disease],Atypical Werner syndrome,[Atypical progeroid syndrome],"An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.",,,,,,Atypical Werner syndrome,TRUE,FALSE,Active +GARD:11911,Active,Orphanet,ORPHA:94064,Disorder,[Malformation syndrome],Deafness-infertility syndrome,"[DIS, Hearing loss-infertility syndrome]",Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.,[611102],,,,,Deafness-infertility syndrome,TRUE,FALSE,Active +GARD:11912,Legacy,GARD,,,,,,,,,,,,Gliomatosis peritonei,TRUE,FALSE,Active +GARD:11913,Legacy,GARD,,,,,,,,,,,,Brachydactyly,FALSE,FALSE,Active +GARD:11914,Active,Orphanet,ORPHA:275777,Subtype of disorder,[Etiological subtype],Heritable pulmonary arterial hypertension,"[FPAH, Familial pulmonary arterial hypertension, HPAH, Hereditary pulmonary arterial hypertension]","Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.","[615342, 178600]",,,,,Familial pulmonary arterial hypertension,TRUE,FALSE,Retired +GARD:11915,Active,Orphanet,ORPHA:171881,Disorder,[Disease],Cap myopathy,[Cap disease],"Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.","[609284, 609285]",,,,,Cap myopathy,TRUE,FALSE,Active +GARD:11916,Legacy,GARD,,,,,,,,,,,,Carbamyl Phosphate Synthetase,FALSE,FALSE,Active +GARD:11917,Legacy,GARD,,,,,,,,,,,,Autoimmune autonomic ganglionopathy,TRUE,FALSE,Active +GARD:11918,Active,Orphanet,ORPHA:98784,Disorder,[Disease],Autosomal dominant nocturnal frontal lobe epilepsy,"[ADNFLE, Autosomal dominant sleep-related hypermotor epilepsy]",A rare seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.,"[605375, 615005, 600513, 610353, 603204]",,,,,Autosomal dominant nocturnal frontal lobe epilepsy,TRUE,FALSE,Active +GARD:11919,Legacy,GARD,,,,,,,,,,,,Numeric sex chromosome variations,FALSE,FALSE,Active +GARD:11920,Legacy,GARD,,,,,,,,,,,,"47, XXY",FALSE,FALSE,Active +GARD:11921,Legacy,GARD,,,,,,,,,,,,Pediatric hypertension,FALSE,FALSE,Retired +GARD:11922,Legacy,GARD,,,,,,,,,,,,Koro,TRUE,FALSE,Active +GARD:11923,Active,Orphanet,ORPHA:284400,Disorder,[Disease],Small cell carcinoma of the bladder,"[Poorly differentiated neuroendocrine carcinoma of the bladder, SCCB, Small cell bladder cancer, Small cell bladder carcinoma, Small cell carcinoma of the urinary bladder]","Small cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course.",,,,,,Small cell carcinoma of the bladder,TRUE,FALSE,Active +GARD:11924,Legacy,GARD,,,,,,,,,,,,Carcinoma showing thymus-like differentiation,TRUE,FALSE,Active +GARD:11925,Active,Orphanet,ORPHA:596,Disorder,[Disease],X-linked centronuclear myopathy,"[X-linked myotubular myopathy, XLCNM, XLMTM]","A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.",[310400],,,,,X-linked myotubular myopathy,TRUE,FALSE,Active +GARD:11926,Legacy,GARD,,,,,,,,,,,,Restless legs syndrome,FALSE,FALSE,Active +GARD:11927,Active,Orphanet,ORPHA:456318,Disorder,[Disease],Hereditary sensory neuropathy-deafness-dementia syndrome,"[HSAN1E, HSN1E, Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome]","A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory neuropathy, behavioral abnormalities, and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth decade.",[614116],,,,,Hereditary sensory and autonomic neuropathy type 1E,TRUE,FALSE,Active +GARD:11928,Legacy,GARD,,,,,,,,,,,,Juvenile-onset small-fiber polyneuropathy,TRUE,FALSE,Active +GARD:11929,Legacy,GARD,,,,,,,,,,,,Osteoarthritis,FALSE,FALSE,Active +GARD:1193,Legacy,GARD,,,,,,,,,,,,Subacute cerebellar degeneration,TRUE,FALSE,Active +GARD:11930,Legacy,GARD,,,,,,,,,,,,Depression,FALSE,FALSE,Active +GARD:11931,Legacy,GARD,,,,,,,,,,,,Epilepsy,FALSE,FALSE,Draft +GARD:11932,Legacy,GARD,,,,,,,,,,,,Osteoporosis,FALSE,FALSE,Active +GARD:11933,Legacy,GARD,,,,,,,,,,,,Schizophrenia,FALSE,FALSE,Active +GARD:11934,Legacy,GARD,,,,,,,,,,,,Diabetes insipidus,FALSE,FALSE,Active +GARD:11935,Legacy,GARD,,,,,,,,,,,,Rheumatoid arthritis,FALSE,FALSE,Draft +GARD:11936,Legacy,GARD,,,,,,,,,,,,Hepatitis C,FALSE,FALSE,Active +GARD:11937,Legacy,GARD,,,,,,,,,,,,Emphysema,FALSE,FALSE,Active +GARD:11938,Legacy,GARD,,,,,,,,,,,,Goiter,FALSE,FALSE,Active +GARD:11939,Legacy,GARD,,,,,,,,,,,,Enlarged prostate,FALSE,FALSE,Active +GARD:1194,Legacy,GARD,,,,,,,,,,,,Cerebellar hypoplasia,TRUE,FALSE,Active +GARD:11940,Legacy,GARD,,,,,,,,,,,,Heart failure,FALSE,FALSE,Active +GARD:11941,Legacy,GARD,,,,,,,,,,,,Stroke,FALSE,FALSE,Active +GARD:11942,Legacy,GARD,,,,,,,,,,,,Diabetes mellitus type 2,FALSE,FALSE,Active +GARD:11943,Legacy,GARD,,,,,,,,,,,,Simultanagnosia,TRUE,FALSE,Active +GARD:11944,Legacy,GARD,,,,,,,,,,,,Coronary artery disease,FALSE,FALSE,Active +GARD:11945,Legacy,GARD,,,,,,,,,,,,Diabetes,FALSE,FALSE,Active +GARD:11946,Legacy,GARD,,,,,,,,,,,,Dementia,FALSE,FALSE,Active +GARD:11947,Legacy,GARD,,,,,,,,,,,,Heart disease,FALSE,FALSE,Active +GARD:11948,Legacy,GARD,,,,,,,,,,,,Chronic obstructive pulmonary disorder,FALSE,FALSE,Active +GARD:11949,Legacy,GARD,,,,,,,,,,,,Dystonia,FALSE,FALSE,Active +GARD:1195,Active,Orphanet,ORPHA:85186,Disorder,[Malformation syndrome],Endosteal sclerosis-cerebellar hypoplasia syndrome,,"Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.",,,,,,Cerebellar hypoplasia with endosteal sclerosis,TRUE,FALSE,Active +GARD:11950,Legacy,GARD,,,,,,,,,,,,Glaucoma,FALSE,FALSE,Active +GARD:11951,Active,Orphanet,ORPHA:780,Disorder,[Disease],Rhabdomyosarcoma,,A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.,"[268220, 268210]",,,,,rhabdomyosarcoma,FALSE,FALSE,Active +GARD:11952,Legacy,GARD,,,,,,,,,,,,Thymic carcinoma,FALSE,FALSE,Active +GARD:11953,Active,Orphanet,ORPHA:547,Group of disorders,[Category],Non-Hodgkin lymphoma,[NHL],A heterogeneous group of malignant tumors of the lymphoid system.,[605027],,,,,Non-Hodgkin's lymphoma,FALSE,FALSE,Active +GARD:11954,Legacy,GARD,,,,,,,,,,,,Diabetic retinopathy,FALSE,FALSE,Draft +GARD:11955,Legacy,GARD,,,,,,,,,,,,Lymphoma,FALSE,FALSE,Active +GARD:11956,Legacy,GARD,,,,,,,,,,,,Mitochondrial myopathy,FALSE,FALSE,Active +GARD:11957,Legacy,GARD,,,,,,,,,,,,HIV/AIDS,FALSE,FALSE,Active +GARD:11958,Legacy,GARD,,,,,,,,,,,,Cardiomyopathy,FALSE,FALSE,Active +GARD:11959,Legacy,GARD,,,,,,,,,,,,Lipoma,FALSE,FALSE,Active +GARD:1196,Active,Orphanet,ORPHA:2246,Disorder,[Malformation syndrome],Cerebellar hypoplasia-tapetoretinal degeneration syndrome,,"Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.",[213000],,,,,Cerebellar hypoplasia tapetoretinal degeneration,TRUE,FALSE,Active +GARD:11960,Legacy,GARD,,,,,,,,,,,,Cancer,FALSE,FALSE,Active +GARD:11961,Legacy,GARD,,,,,,,,,,,,Angiosarcoma,FALSE,FALSE,Active +GARD:11962,Active,Orphanet,ORPHA:98306,Group of disorders,[Clinical group],Familial partial lipodystrophy,[FPLD],"A group of rare genetic lipodystrophies characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.",,,,,,Familial partial lipodystrophy,TRUE,FALSE,Active +GARD:11963,Legacy,GARD,,,,,,,,,,,,Intellectual disability,FALSE,FALSE,Active +GARD:11964,Legacy,GARD,,,,,,,,,,,,Kidney failure,FALSE,FALSE,Active +GARD:11965,Legacy,GARD,,,,,,,,,,,,Prolymphocytic leukemia,FALSE,FALSE,Active +GARD:11966,Legacy,GARD,,,,,,,,,,,,"Small cell lung cancer, adult",FALSE,FALSE,Retired +GARD:11967,Legacy,GARD,,,,,,,,,,,,Pitt-Hopkins-like syndrome,TRUE,FALSE,Active +GARD:11968,Legacy,GARD,,,,,,,,,,,,Lactobezoar,TRUE,FALSE,Active +GARD:11969,Legacy,GARD,,,,,,,,,,,,Clostridium septicum infection,TRUE,FALSE,Active +GARD:11970,Legacy,GARD,,,,,,,,,,,,Clostridium perfringens infection,TRUE,FALSE,Active +GARD:11971,Active,Orphanet,ORPHA:71273,Disorder,[Disease],Renal nutcracker syndrome,"[Left renal vein entrapment syndrome, RNS]","A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.",,,,,,Renal nutcracker syndrome,TRUE,FALSE,Active +GARD:11972,Active,Orphanet,ORPHA:98672,Group of disorders,[Clinical group],Autosomal dominant optic atrophy,"[ADOA, DOA]",,,,,,,Dominant optic atrophy,TRUE,FALSE,Active +GARD:11973,Active,Orphanet,ORPHA:86886,Disorder,[Disease],Angioimmunoblastic T-cell lymphoma,"[AILT, Immunoblastic lymphadenopathy, Lymphogranulomatosis X, T-cell lymphoma, AILD type]","A rare T-cell non-Hodgkin lymphoma characterized by infiltration of lymph nodes by neoplastic cells of T follicular helper cell origin with a polymorphous inflammatory background including markedly increased follicular dendritic cells and EBV-positive B-cells, as well as prominent proliferation of high endothelial venules. The spleen, liver, skin, and bone marrow are also frequently involved. Patients typically present with generalized lymphadenopathy, hepatosplenomegaly, systemic symptoms, and polyclonal hypergammaglobulinemia. Pruritic skin rash, arthritis, pleural effusion, and ascites may also be observed. The condition is aggressive with generally poor prognosis.",,,,,,Angioimmunoblastic T-cell lymphoma,TRUE,FALSE,Active +GARD:11974,Active,Orphanet,ORPHA:65286,Disorder,[Malformation syndrome],3q29 microdeletion syndrome,"[3q subtelomere deletion syndrome, 3qter deletion, Del(3)(q29), Monosomy 3q29, Monosomy 3qter]",A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.,[609425],,,,,3q29 microdeletion syndrome,TRUE,FALSE,Active +GARD:11975,Legacy,GARD,,,,,,,,,,,,15q13.3 microduplication syndrome,TRUE,FALSE,Active +GARD:11976,Legacy,GARD,,,,,,,,,,,,Cystic adventitial disease,TRUE,FALSE,Active +GARD:11977,Legacy,GARD,,,,,,,,,,,,Prosthetic joint infection,TRUE,FALSE,Active +GARD:11978,Legacy,GARD,,,,,,,,,,,,Sclerosing mucoepidermoid carcinoma with eosinophilia,TRUE,FALSE,Active +GARD:11979,Active,Orphanet,ORPHA:622014,Group of disorders,[Clinical group],Autoimmune encephalitis,"[AE, AIE]",,,,,,,Autoimmune encephalitis,TRUE,FALSE,Active +GARD:1198,Legacy,GARD,,,,,,,,,,,,Cerebello-olivary atrophy,TRUE,FALSE,Active +GARD:11980,Active,Orphanet,ORPHA:85163,Disorder,[Malformation syndrome],Hypomyelination-congenital cataract syndrome,,"Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.",[610532],,,,,Hypomyelination and congenital cataract,TRUE,FALSE,Active +GARD:11981,Legacy,GARD,,,,,,,,,,,,Endometrial Cancer,FALSE,FALSE,Internal +GARD:11982,Active,Orphanet,ORPHA:54370,Disorder,[Disease],Primary membranoproliferative glomerulonephritis,"[Mesangiocapillary glomerulonephritis, Primary MPGN]","A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.","[615008, 305800, 609814, 614809]",,,,,Membranoproliferative glomerulonephritis,TRUE,FALSE,Active +GARD:11983,Active,Orphanet,ORPHA:397596,Disorder,[Disease],Activated PI3K-delta syndrome,"[APDS, Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation]","A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lymphadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.","[615513, 616005]",,,,,PASLI disease,TRUE,FALSE,Active +GARD:11984,Active,Orphanet,ORPHA:29072,Disorder,[Disease],Hereditary pheochromocytoma-paraganglioma,[Familial pheochromocytoma-paraganglioma],"A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.","[618464, 618475, 605373, 168000, 171300, 614165, 115310, 601650]",,,,,Hereditary paraganglioma-pheochromocytoma,TRUE,FALSE,Active +GARD:11985,Active,Orphanet,ORPHA:99329,Disorder,[Malformation syndrome],"48,XYYY syndrome",,"A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.",,,,,,"48,XYYY",TRUE,FALSE,Active +GARD:11986,Legacy,GARD,,,,,,,,,,,,Síndrome de Wolfram,TRUE,TRUE,Active +GARD:11987,Legacy,GARD,,,,,,,,,,,,Enfermedad de Rosai-Dorfman,TRUE,TRUE,Active +GARD:11988,Legacy,GARD,,,,,,,,,,,,Morfea,TRUE,TRUE,Active +GARD:11989,Legacy,GARD,,,,,,,,,,,,Pythiosis,TRUE,FALSE,Active +GARD:1199,Active,Orphanet,ORPHA:1170,Disorder,[Disease],Autosomal recessive cerebelloparenchymal disorder type 3,"[Autosomal recessive spinocerebellar ataxia type 2, SCAR2]","The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.",[213200],,,,,Cerebelloparenchymal disorder 3,TRUE,FALSE,Active +GARD:11990,Legacy,GARD,,,,,,,,,,,,Síndrome de Opitz G/BBB,TRUE,TRUE,Active +GARD:11991,Legacy,GARD,,,,,,,,,,,,Síndrome de Parkes Weber,TRUE,TRUE,Active +GARD:11992,Active,Orphanet,ORPHA:306431,Disorder,[Disease],Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,"[Acquired adult-onset immunodeficiency, Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies]","A rare acquired immunodeficiency disorder characterized by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalized), fever, weight loss and/or reactive skin lesions.",,,,,,Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,TRUE,FALSE,Active +GARD:11993,Legacy,GARD,,,,,,,,,,,,Enfermedad de Huntington,TRUE,TRUE,Active +GARD:11994,Legacy,GARD,,,,,,,,,,,,"Trastorno testicular del desarrollo sexual 46,XX",TRUE,TRUE,Active +GARD:11995,Legacy,GARD,,,,,,,,,,,,Déficit de ornitina transcarbamilasa,TRUE,TRUE,Active +GARD:11996,Legacy,GARD,,,,,,,,,,,,Agenesia cerebelosa,TRUE,TRUE,Draft +GARD:11997,Legacy,GARD,,,,,,,,,,,,Distrofia de conos ,FALSE,TRUE,Active +GARD:11998,Legacy,GARD,,,,,,,,,,,,Celiac disease,FALSE,FALSE,Active +GARD:12,Active,Orphanet,ORPHA:31740,Group of disorders,[Clinical group],Hypersensitivity pneumonitis,[Extrinsic allergic alveolitis],Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.,,,,,,Hypersensitivity pneumonitis,TRUE,FALSE,Active +GARD:120,Legacy,GARD,,,,,,,,,,,,Sennetsu Fever,TRUE,FALSE,Active +GARD:1200,Active,Orphanet,ORPHA:1397,Disorder,[Malformation syndrome],Hydrocephaly-cerebellar agenesis syndrome,,"A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth and is fatal in the neonatal period. There have been no further descriptions in the literature since 1973.",[307010],,,,,Cerebellum agenesis hydrocephaly,TRUE,FALSE,Active +GARD:12000,Legacy,GARD,,,,,,,,,,,,Epidermólisis ampollosa,TRUE,TRUE,Active +GARD:12001,Legacy,GARD,,,,,,,,,,,,Acondroplasia,TRUE,TRUE,Active +GARD:12002,Legacy,GARD,,,,,,,,,,,,Amelogénesis imperfecta,TRUE,TRUE,Active +GARD:12003,Legacy,GARD,,,,,,,,,,,,Mesangioproliferative glomerulopathy,TRUE,FALSE,Active +GARD:12004,Legacy,GARD,,,,,,,,,,,,Síndrome de Prader-Willi,TRUE,TRUE,Active +GARD:12005,Legacy,GARD,,,,,,,,,,,,Hiperekplexia hereditaria,TRUE,TRUE,Active +GARD:12006,Legacy,GARD,,,,,,,,,,,,Quiste de Tarlov,TRUE,TRUE,Active +GARD:12007,Legacy,GARD,,,,,,,,,,,,Trombocitemia esencial,TRUE,TRUE,Active +GARD:12008,Active,Orphanet,ORPHA:141127,Disorder,[Morphological anomaly],Congenital tracheal stenosis,,"A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty.",[603569],,,,,Congenital tracheal stenosis,TRUE,FALSE,Active +GARD:12009,Legacy,GARD,,,,,,,,,,,,Enfermedad de Still del adulto,TRUE,TRUE,Active +GARD:1201,Legacy,GARD,,,,,,,,,,,,Cerebral calcification cerebellar hypoplasia,TRUE,FALSE,Active +GARD:12010,Active,Orphanet,ORPHA:30391,Disorder,[Morphological anomaly],Isolated biliary atresia,"[Isolated atresia of bile ducts, Non-syndromic biliary atresia]","A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.",[210500],,,,,Biliary atresia,TRUE,FALSE,Active +GARD:12011,Active,Orphanet,ORPHA:93114,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,"[CMTDIE, Charcot-Marie-Tooth disease-nephropathy syndrome]","A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec).",[614455],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,TRUE,FALSE,Active +GARD:12012,Legacy,GARD,,,,,,,,,,,,Pseudobulbar affect,FALSE,FALSE,Active +GARD:12013,Legacy,GARD,,,,,,,,,,,,Demoplastic fibroma,FALSE,FALSE,Active +GARD:12014,Legacy,GARD,,,,,,,,,,,,Embryonal tumor,FALSE,FALSE,Active +GARD:12015,Active,Orphanet,ORPHA:247762,Disorder,[Disease],Lipoblastoma,,"A rare soft tissue tumor characterized by a lobulated, localized (lipoblastoma) or diffuse (lipoblastomatosis) lesion resembling fetal adipose tissue, composed of mature and immature adipocytes. It is most commonly found during the first years of life and presents as a slowly growing, well circumscribed mass, which may compress adjacent structures, depending on the location. Malignant transformation or metastasis does not occur, while recurrences are described especially in lipoblastomatosis.",,,,,,Lipoblastoma,TRUE,FALSE,Active +GARD:12016,Active,Orphanet,ORPHA:252050,Disorder,[Disease],Primary melanoma of the central nervous system,"[Malignant melanoma of meninges, Primary melanoma of the CNS]","Primary melanoma of the central nervous system is a rare tumor of meninges arising from leptomeningeal melanocytes, typically in the perimedullary or high cervical region, in the absence of melanoma outside the CNS. The tumor is typically a darkly pigmented, solid mass, often containing hemorrhagic or necrotic areas, composed of sheets of pleomorphic cells with prominent nucleoli, with frequent mitotic figures and parenchymal invasion. Intracranial tumor may present with signs of raised intracranial pressure, focal neurological symptoms related to tumor location, seizures or subarachnoid hemorrhage, spinal tumor may present with back pain, muscle weakness, numbness, plegia or urinary incontinence.",,,,,,Primary melanoma of the central nervous system,TRUE,FALSE,Active +GARD:12017,Legacy,GARD,,,,,,,,,,,,Pineal germ cell tumor,TRUE,FALSE,Active +GARD:12018,Legacy,GARD,,,,,,,,,,,,Sarcoma,FALSE,FALSE,Active +GARD:12019,Legacy,GARD,,,,,,,,,,,,Suprasellar germ cell tumor,FALSE,FALSE,Active +GARD:1202,Legacy,GARD,,,,,,,,,,,,Cerebral calcifications opalescent teeth phosphaturia,TRUE,FALSE,Active +GARD:12020,Legacy,GARD,,,,,,,,,,,,Pyelonephritis,FALSE,FALSE,Active +GARD:12021,Legacy,GARD,,,,,,,,,,,,Xanthogranulomatous pyelonephritis,FALSE,FALSE,Active +GARD:12022,Legacy,GARD,,,,,,,,,,,,Hamartoma,FALSE,FALSE,Active +GARD:12023,Legacy,GARD,,,,,,,,,,,,Cardiac fibroma,FALSE,FALSE,Active +GARD:12024,Legacy,GARD,,,,,,,,,,,,Angiomyolipoma,FALSE,FALSE,Active +GARD:12025,Legacy,GARD,,,,,,,,,,,,Malignant melanoma of soft tissues,FALSE,FALSE,Active +GARD:12026,Legacy,GARD,,,,,,,,,,,,Giant cell epulis,FALSE,FALSE,Active +GARD:12027,Active,Orphanet,ORPHA:146,Disorder,[Disease],Differentiated thyroid carcinoma,"[Papillary or follicular thyroid carcinoma, Well-differentiated thyroid carcinoma]","A rare, slow-growing, epithelial thyroid carcinoma typically presenting as an asymptomatic thyroid mass and is classed as either papillary thyroid cancer (PTC), follicular thyroid cancer (FTC) or Hurthle cell thyroid cancer (HCTC).","[188550, 607464]",,,,,Papillary thyroid carcinoma,TRUE,FALSE,Active +GARD:12028,Legacy,GARD,,,,,,,,,,,,Parathyroid adenoma,FALSE,FALSE,Active +GARD:12029,Legacy,GARD,,,,,,,,,,,,Mixed pattern hyperplasia,FALSE,FALSE,Active +GARD:12030,Legacy,GARD,,,,,,,,,,,,Mixed glioneuronal tumour,FALSE,FALSE,Active +GARD:12031,Legacy,GARD,,,,,,,,,,,,Solid pseudopapillary tumor of the pancreas,FALSE,FALSE,Active +GARD:12032,Active,Orphanet,ORPHA:95854,Disorder,[Morphological anomaly],Levocardia,"[Isolated levocardia, Levocardia with situs inversus]","A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by the heart located in the normal (levo) position associated with abdominal viscera located in the dextro position. Cardiac (e.g. interrupted inferior vena cava with azygous continuation) and/or splenic (asplenia, polysplenia) anomalies, as well as intestinal malrotation, are frequently associated.",,,,,,Isolated levocardia,TRUE,FALSE,Active +GARD:12033,Active,Orphanet,ORPHA:607,Group of disorders,[Clinical group],Nemaline myopathy,"[NEM, NM, Nemaline rod myopathy]","Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.",,,,,,Nemaline myopathy,TRUE,FALSE,Active +GARD:12034,Legacy,GARD,,,,,,,,,,,,Autoimmune retinopathy,TRUE,FALSE,Active +GARD:12035,Legacy,GARD,,,,,,,,,,,,Airway-centered interstitial fibrosis,TRUE,FALSE,Active +GARD:12036,Active,Orphanet,ORPHA:85162,Disorder,[Disease],Facial onset sensory and motor neuronopathy,[FOSMN syndrome],"Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.",,,,,,Facial onset sensory and motor neuronopathy,TRUE,FALSE,Active +GARD:12037,Legacy,GARD,,,,,,,,,,,,Undiagnosed condition,FALSE,FALSE,Internal +GARD:12038,Legacy,GARD,,,,,,,,,,,,No condition mentioned,FALSE,FALSE,Internal +GARD:12039,Legacy,GARD,,,,,,,,,,,,Unknown condition,FALSE,FALSE,Internal +GARD:1204,Legacy,GARD,,,,,,,,,,,,Cerebral cavernous malformation,FALSE,FALSE,Active +GARD:12040,Legacy,GARD,,,,,,,,,,,,Rare diseases,FALSE,FALSE,Internal +GARD:12041,Legacy,GARD,,,,,,,,,,,,Melanoma-associated retinopathy,TRUE,FALSE,Active +GARD:12042,Legacy,GARD,,,,,,,,,,,,Posthypoxic myoclonus,FALSE,FALSE,Retired +GARD:12043,Legacy,GARD,,,,,,,,,,,,Macular fold,FALSE,FALSE,Retired +GARD:12044,Legacy,GARD,,,,,,,,,,,,Cistitis intersticial,TRUE,TRUE,Draft +GARD:12045,Legacy,GARD,,,,,,,,,,,,Síndrome de Axenfeld-Rieger,TRUE,TRUE,Active +GARD:12046,Legacy,GARD,,,,,,,,,,,,Clinical findings,FALSE,FALSE,Internal +GARD:12047,Legacy,GARD,,,,,,,,,,,,Extracranial arteriovenous malformation,TRUE,FALSE,Active +GARD:12048,Active,Orphanet,ORPHA:97567,Disorder,[Disease],Immunotactoid glomerulopathy,[Immunotactoid glomerulonephritis],"Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP, see this term) are often grouped together as pathogenetically related diseases.",,,,,,Immunotactoid glomerulopathy,TRUE,FALSE,Active +GARD:12050,Legacy,GARD,,,,,,,,,,,,Congenital ichthyosis of skin,FALSE,FALSE,Active +GARD:12051,Legacy,GARD,,,,,,,,,,,,Cortical dysplasia,FALSE,FALSE,Active +GARD:12052,Legacy,GARD,,,,,,,,,,,,Demyelinating disease of central nervous system,FALSE,FALSE,Active +GARD:12053,Legacy,GARD,,,,,,,,,,,,Lipomeningocele,FALSE,FALSE,Active +GARD:12054,Legacy,GARD,,,,,,,,,,,,Lipodistrofia congénita de Berardinelli-Seip,TRUE,TRUE,Active +GARD:12055,Legacy,GARD,,,,,,,,,,,,Prostate cancer,FALSE,FALSE,Draft +GARD:12056,Legacy,GARD,,,,,,,,,,,,Síndrome de Potocki-Shaffer,TRUE,TRUE,Active +GARD:12057,Legacy,GARD,,,,,,,,,,,,Osteonecrosis,FALSE,FALSE,Active +GARD:12058,Legacy,GARD,,,,,,,,,,,,Misophonia,TRUE,FALSE,Active +GARD:12059,Active,Orphanet,ORPHA:370933,Disorder,[Disease],GM3 synthase deficiency,[ST3GAL5-CDG],"GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.",[609056],,,,,GM3 synthase deficiency,TRUE,FALSE,Active +GARD:1206,Legacy,GARD,,,,,,,,,,,,Cerebral gigantism jaw cysts,TRUE,FALSE,Active +GARD:12060,Legacy,GARD,,,,,,,,,,,,Cerebellar ataxia,FALSE,FALSE,Active +GARD:12062,Active,Orphanet,ORPHA:420556,Disorder,[Disease],Visual snow syndrome,,"Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms.",,,,,,Visual snow syndrome,TRUE,FALSE,Active +GARD:12063,Legacy,GARD,,,,,,,,,,,,Autoimmune gastrointestinal dysmotility,TRUE,FALSE,Active +GARD:12064,Legacy,GARD,,,,,,,,,,,,Síndrome de KBG,TRUE,TRUE,Active +GARD:12065,Legacy,GARD,,,,,,,,,,,,Bartonella infection,FALSE,FALSE,Draft +GARD:12066,Legacy,GARD,,,,,,,,,,,,Ichthyosis,FALSE,FALSE,Retired +GARD:12067,Legacy,GARD,,,,,,,,,,,,Chromosome translocation,FALSE,FALSE,Internal +GARD:12068,Legacy,GARD,,,,,,,,,,,,Sundown syndrome,FALSE,FALSE,Retired +GARD:12069,Legacy,GARD,,,,,,,,,,,,Fibromyalgia,FALSE,FALSE,Active +GARD:12070,Legacy,GARD,,,,,,,,,,,,Chromosome 8 deletion,FALSE,FALSE,Active +GARD:12071,Legacy,GARD,,,,,,,,,,,,Chronic kidney disease metabolic bone disease,FALSE,FALSE,Active +GARD:12072,Legacy,GARD,,,,,,,,,,,,Enfermedad de Hashimoto,FALSE,TRUE,Active +GARD:12073,Legacy,GARD,,,,,,,,,,,,Lyme disease,FALSE,FALSE,Active +GARD:12074,Active,Orphanet,ORPHA:141132,Disorder,[Malformation syndrome],Oculo-auriculo-vertebral spectrum,"[OAV spectrum, Oculoauriculovertebral spectrum]","A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.",,,,,,Oculo-auriculo-vertebral spectrum,TRUE,FALSE,Active +GARD:12075,Legacy,GARD,,,,,,,,,,,,Nevus mucinosis,TRUE,FALSE,Active +GARD:12076,Active,Orphanet,ORPHA:96121,Disorder,[Malformation syndrome],7q11.23 microduplication syndrome,"[Dup(7)(q11.23), Trisomy 7q11.23]","7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.",[609757],,,,,7q11.23 duplication syndrome,TRUE,FALSE,Active +GARD:12077,Legacy,GARD,,,,,,,,,,,,5q14.3 deletion syndrome,TRUE,FALSE,Retired +GARD:12078,Legacy,GARD,,,,,,,,,,,,Hypoganglionosis,TRUE,FALSE,Active +GARD:12079,Legacy,GARD,,,,,,,,,,,,Tonic-clonic seizures,FALSE,FALSE,Draft +GARD:12080,Legacy,GARD,,,,,,,,,,,,Erb's palsy,FALSE,FALSE,Draft +GARD:12082,Legacy,GARD,,,,,,,,,,,,Phantosmia,FALSE,FALSE,Draft +GARD:12083,Legacy,GARD,,,,,,,,,,,,Adnexal carcinoma of skin,FALSE,FALSE,Draft +GARD:12084,Legacy,GARD,,,,,,,,,,,,Ocular histoplasmosis,FALSE,FALSE,Draft +GARD:12085,Active,Orphanet,ORPHA:2542,Group of disorders,[Clinical group],Isolated microphthalmia-anophthalmia-coloboma,[Isolated anophthalmia-microphthalmia syndrome],"A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.","[251600, 613517, 611038, 613094, 613704, 615113, 156850, 610093]",,,,,Microphthalmia,TRUE,FALSE,Active +GARD:12086,Legacy,GARD,,,,,,,,,,,,Granulomatous lymphocytic interstitial lung disease,FALSE,FALSE,Draft +GARD:12087,Legacy,GARD,,,,,,,,,,,,Urticaria,FALSE,FALSE,Draft +GARD:12088,Legacy,GARD,,,,,,,,,,,,Hemoglobin SE disease,TRUE,FALSE,Active +GARD:12089,Legacy,GARD,,,,,,,,,,,,Hemihypertrophy,TRUE,FALSE,Active +GARD:12090,Legacy,GARD,,,,,,,,,,,,Azoospermia,FALSE,FALSE,Draft +GARD:12091,Legacy,GARD,,,,,,,,,,,,Obstructive sleep apnea,FALSE,FALSE,Draft +GARD:12092,Legacy,GARD,,,,,,,,,,,,Periodic limb movement disorder,FALSE,FALSE,Draft +GARD:12093,Legacy,GARD,,,,,,,,,,,,Maculopapular cutaneous mastocytosis,FALSE,FALSE,Active +GARD:12094,Legacy,GARD,,,,,,,,,,,,Duane anomaly,FALSE,FALSE,Retired +GARD:12095,Legacy,GARD,,,,,,,,,,,,Blindness,FALSE,FALSE,Draft +GARD:12096,Legacy,GARD,,,,,,,,,,,,Iron overload,FALSE,FALSE,Draft +GARD:12097,Active,Orphanet,ORPHA:275761,Disorder,[Disease],Lysosomal acid lipase deficiency,[LAL deficiency],"A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis.",[278000],,,,,Lysosomal acid lipase deficiency,TRUE,FALSE,Active +GARD:12098,Legacy,GARD,,,,,,,,,,,,Deficiencia de la lipasa ácida lisosómica ,TRUE,TRUE,Active +GARD:12099,Active,Orphanet,ORPHA:75234,Subtype of disorder,[Clinical subtype],Cholesteryl ester storage disease,[Cholesterol ester storage disease],"A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.",[278000],,,,,Cholesteryl ester storage disease,TRUE,FALSE,Active +GARD:121,Active,Orphanet,ORPHA:1807,Subtype of disorder,[Clinical subtype],Focal facial dermal dysplasia type III,"[FFDD type III, FFDD3, Focal facial dermal dysplasia 3, Setleis type, Setleis syndrome]","Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.",[227260],,,,,Facial ectodermal dysplasia,TRUE,FALSE,Active +GARD:1210,Active,Orphanet,ORPHA:1394,Disorder,[Malformation syndrome],Cerebrofaciothoracic dysplasia,[Pascual-Castroviejo syndrome type 1],"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.",[213980],,,,,Cerebro facio thoracic dysplasia,TRUE,FALSE,Active +GARD:12100,Legacy,GARD,,,,,,,,,,,,Enfermedad por almacenamiento de ésteres de colesterol,TRUE,TRUE,Active +GARD:12101,Legacy,GARD,,,,,,,,,,,,Enfermedad de Wolman,TRUE,TRUE,Active +GARD:12102,Legacy,GARD,,,,,,,,,,,,Chromosome 9p tetrasomy,TRUE,FALSE,Retired +GARD:12103,Legacy,GARD,,,,,,,,,,,,Complex post-traumatic stress disorder,FALSE,FALSE,Draft +GARD:12104,Legacy,GARD,,,,,,,,,,,,Autoimmune disease,FALSE,FALSE,Internal +GARD:12105,Legacy,GARD,,,,,,,,,,,,Traumatic brain injury,FALSE,FALSE,Draft +GARD:12106,Legacy,GARD,,,,,,,,,,,,Coloboma,FALSE,FALSE,Draft +GARD:12107,Active,Orphanet,ORPHA:178469,Subtype of disorder,[Etiological subtype],Autosomal dominant non-syndromic intellectual disability,,,"[614257, 618330, 612580, 614563, 612581, 614113, 619188, 618106, 156200, 616393, 615828, 616083, 617854, 613970, 612621, 614254, 617796, 614255, 618095, 616977, 617798, 616579, 617799, 614256]",,,,,Autosomal dominant non-syndromic intellectual disability,TRUE,FALSE,Active +GARD:12108,Legacy,GARD,,,,,,,,,,,,Scoliosis,FALSE,FALSE,Draft +GARD:12109,Active,Orphanet,ORPHA:33364,Disorder,[Disease],Trichothiodystrophy,,"Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).","[616395, 616943, 300953, 601675, 618546, 616390, 234050]",,,,,Trichothiodystrophy ,TRUE,FALSE,Active +GARD:12110,Legacy,GARD,,,,,,,,,,,,Post orgasmic sick syndrome,TRUE,FALSE,Retired +GARD:12113,Legacy,GARD,,,,,,,,,,,,Trochleitis,TRUE,FALSE,Active +GARD:12114,Legacy,GARD,,,,,,,,,,,,Hypotension,FALSE,FALSE,Draft +GARD:12115,Legacy,GARD,,,,,,,,,,,,Hypermethioninemia,FALSE,FALSE,Draft +GARD:12116,Legacy,GARD,,,,,,,,,,,,Neuropsychiatric systemic lupus erythematosus,FALSE,FALSE,Draft +GARD:12117,Active,Orphanet,ORPHA:2512,Subtype of disorder,[Etiological subtype],Autosomal recessive primary microcephaly,"[MCPH, Microcephalia vera, Microcephaly vera, True microcephaly]",Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.,"[617800, 618351, 614852, 251200, 616486, 616080, 604321, 616051, 617983, 608393, 614673, 617090, 617984, 618179, 616402, 608716, 604317, 617985, 617914, 603802, 604804, 612703, 616681]",,,,,Autosomal recessive primary microcephaly,TRUE,FALSE,Active +GARD:12118,Legacy,GARD,,,,,,,,,,,,Polyneuropathy,FALSE,FALSE,Draft +GARD:12119,Legacy,GARD,,,,,,,,,,,,Unspecified chromosome abnormality,FALSE,FALSE,Draft +GARD:12120,Legacy,GARD,,,,,,,,,,,,Síndrome del cabello impeinable ,TRUE,TRUE,Active +GARD:12121,Legacy,GARD,,,,,,,,,,,,Lisencefalia ligada al X asociada a genitales anormales,TRUE,TRUE,Active +GARD:12122,Legacy,GARD,,,,,,,,,,,,Sialorrhea,FALSE,FALSE,Retired +GARD:12123,Active,Orphanet,ORPHA:294975,Disorder,[Morphological anomaly],Congenital absence of upper arm and forearm with hand present,[Humero-radio-ulnar intercalary transverse meromelia],"A rare congenital limb malformation characterized by absence or marked shortening of the proximal to mid portion of an upper limb, while the hand is normal or nearly normal. The condition may be unilateral or bilateral, and occur sporadically or as part of a malformation syndrome.",,,,,,Phocomelia,TRUE,FALSE,Active +GARD:12124,Active,Orphanet,ORPHA:158061,Disorder,[Clinical syndrome],Macrophage activation syndrome,,"A rare hemophagocytic syndrome characterized by excessive activation and proliferation of macrophages and T cells occurring in the context of a variety of diseases, including infections, neoplasms, rheumatic disorders, and leading to sudden onset of persistent fever, lymphadenopathy, and hepatosplenomegaly. Complications include profound depression of one or more blood cell lines with coagulopathy and pancytopenia, and impaired liver and renal function. Bone marrow examination reveals numerous well differentiated macrophages actively phagocytosing hematopoietic elements.",,,,,,Macrophage activation syndrome,TRUE,FALSE,Active +GARD:12125,Active,Orphanet,ORPHA:289666,Disorder,[Disease],Plasmablastic lymphoma,[PBL],"A rare aggressive B-cell non-Hodgkin lymphoma characterized by neoplastic cells resembling B immunoblasts or plasmablasts with a CD20-negative plasmacytic phenotype. The tumor may occur in the oral cavity, the gastrointestinal tract, or other, predominantly extranodal, sites and is typically associated with immunodeficiency or -suppression. The tumor cells are EBV-positive in most cases. Patients often present with disseminated bone involvement. Paraproteinemia may also be detected. Prognosis is generally poor.",,,,,,Plasmablastic lymphoma,TRUE,FALSE,Active +GARD:12126,Legacy,GARD,,,,,,,,,,,,Small fiber neuropathy,TRUE,FALSE,Draft +GARD:12127,Legacy,GARD,,,,,,,,,,,,Chromosome 1q21.1 rearrangement,FALSE,FALSE,Draft +GARD:12128,Active,Orphanet,ORPHA:79282,Subtype of disorder,[Clinical subtype],"Methylmalonic acidemia with homocystinuria, type cblC","[CblC defect, Cobalamin C defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC, Methylmalonic aciduria with homocystinuria, type cblC]","cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.",[277400],,,,,Methylmalonic acidemia with homocystinuria type cblC,TRUE,FALSE,Active +GARD:12129,Legacy,GARD,,,,,,,,,,,,Degenerative myopia,FALSE,FALSE,Draft +GARD:12130,Legacy,GARD,,,,,,,,,,,,Eosinophilic mastitis,TRUE,FALSE,Active +GARD:12131,Legacy,GARD,,,,,,,,,,,,Optic neuropathy,FALSE,FALSE,Active +GARD:12132,Legacy,GARD,,,,,,,,,,,,Rheumatoid arthritis-interstitial lung disease,FALSE,FALSE,Draft +GARD:12133,Legacy,GARD,,,,,,,,,,,,Nodding syndrome,TRUE,FALSE,Active +GARD:12134,Legacy,GARD,,,,,,,,,,,,Chromosome 18p deletion syndrome,FALSE,FALSE,Retired +GARD:12135,Legacy,GARD,,,,,,,,,,,,Brachial plexus injury,FALSE,FALSE,Draft +GARD:12136,Legacy,GARD,,,,,,,,,,,,C1q nephropathy,TRUE,FALSE,Active +GARD:12137,Legacy,GARD,,,,,,,,,,,,Multiple chemical sensitivity,FALSE,FALSE,Draft +GARD:12138,Legacy,GARD,,,,,,,,,,,,Apocrine carcinoma,TRUE,FALSE,Active +GARD:12140,Legacy,GARD,,,,,,,,,,,,Trisomy 3 syndrome,FALSE,FALSE,Retired +GARD:12141,Legacy,GARD,,,,,,,,,,,,May-Thurner syndrome,TRUE,FALSE,Active +GARD:12142,Legacy,GARD,,,,,,,,,,,,Melanocytic matricoma,FALSE,FALSE,Draft +GARD:12143,Legacy,GARD,,,,,,,,,,,,Optic atrophy,FALSE,FALSE,Draft +GARD:12144,Active,Orphanet,ORPHA:255,Group of disorders,[Clinical group],Dopa-responsive dystonia,"[HPD with diurnal fluctuation, Hereditary progressive dystonia with diurnal fluctuation]","Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.",,,,,,GTPCH1-deficient DRD,TRUE,FALSE,Active +GARD:12145,Legacy,GARD,,,,,,,,,,,,Attention deficit hyperactivity disorder ,FALSE,FALSE,Draft +GARD:12146,Legacy,GARD,,,,,,,,,,,,Night blindness,FALSE,FALSE,Draft +GARD:12147,Legacy,GARD,,,,,,,,,,,,Insensibilidad congénita al dolor,TRUE,TRUE,Active +GARD:12148,Legacy,GARD,,,,,,,,,,,,Argyria,FALSE,FALSE,Draft +GARD:12149,Legacy,GARD,,,,,,,,,,,,Alien hand syndrome,TRUE,FALSE,Active +GARD:12150,Legacy,GARD,,,,,,,,,,,,Allergy to anesthetic,FALSE,FALSE,Draft +GARD:12151,Legacy,GARD,,,,,,,,,,,,Crusted scabies,TRUE,FALSE,Active +GARD:12152,Legacy,GARD,,,,,,,,,,,,Polymyalgia rheumatica,FALSE,FALSE,Draft +GARD:12153,Legacy,GARD,,,,,,,,,,,,Unilateral focal polymicrogyria,FALSE,FALSE,Draft +GARD:12154,Legacy,GARD,,,,,,,,,,,,Síndrome de Emanuel,TRUE,TRUE,Active +GARD:12155,Legacy,GARD,,,,,,,,,,,,Renal hypomagnesemia-6,TRUE,FALSE,Active +GARD:12156,Legacy,GARD,,,,,,,,,,,,Posterior Cortical Atrophy ,FALSE,FALSE,Draft +GARD:12157,Legacy,GARD,,,,,,,,,,,,Bertolotti syndrome,FALSE,FALSE,Draft +GARD:12158,Legacy,GARD,,,,,,,,,,,,Thoracic aortic aneurysm,FALSE,FALSE,Draft +GARD:12159,Legacy,GARD,,,,,,,,,,,,Hemoglobin C-beta-thalassemia,FALSE,FALSE,Draft +GARD:12160,Legacy,GARD,,,,,,,,,,,,Atopic dermatitis,FALSE,FALSE,Draft +GARD:12161,Legacy,GARD,,,,,,,,,,,,Adenocarcinoma,FALSE,FALSE,Draft +GARD:12162,Active,Orphanet,ORPHA:97239,Disorder,[Disease],Reducing body myopathy,,Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.,"[300717, 300718]",,,,,Reducing body myopathy,TRUE,FALSE,Active +GARD:12163,Active,Orphanet,ORPHA:209905,Disorder,[Disease],Brain-lung-thyroid syndrome,[Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome],"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).",[610978],,,,,Brain-lung-thyroid syndrome,TRUE,FALSE,Active +GARD:12164,Legacy,GARD,,,,,,,,,,,,Dysautonomia,FALSE,FALSE,Draft +GARD:12165,Legacy,GARD,,,,,,,,,,,,Familial Dupuytren contracture,FALSE,FALSE,Active +GARD:12166,Active,Orphanet,ORPHA:228384,Disorder,[Malformation syndrome],5q14.3 microdeletion syndrome,"[Del(5)(q14.3), Monosomy 5q14.3]","The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.",[613443],,,,,5q14.3 microdeletion syndrome ,TRUE,FALSE,Active +GARD:12168,Legacy,GARD,,,,,,,,,,,,Hemoglobin J Baltimore,FALSE,FALSE,Draft +GARD:12169,Legacy,GARD,,,,,,,,,,,,Mucous membrance pemphigoid,FALSE,FALSE,Draft +GARD:1217,Active,Orphanet,ORPHA:247691,Disorder,[Disease],Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,"[RVCL, RVCL-S, Retinal vasculopathy and cerebral leukoencephalopathy]","A rare inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS) all exhibiting progressive visual impairment as well as variable cerebral dysfunction.",[192315],,,,,Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations,TRUE,FALSE,Active +GARD:12170,Legacy,GARD,,,,,,,,,,,,"Phospolipase A2, Group VI",FALSE,FALSE,Retired +GARD:12171,Legacy,GARD,,,,,,,,,,,,Cleft lip/palate,FALSE,FALSE,Draft +GARD:12172,Legacy,GARD,,,,,,,,,,,,Deafness,FALSE,FALSE,Draft +GARD:12173,Active,Orphanet,ORPHA:505652,Disorder,[Disease],CDKL5-deficiency disorder,[CDD],A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.,[300672],,,,,CDKL5 deficiency disorder,TRUE,FALSE,Active +GARD:12174,Legacy,GARD,,,,,,,,,,,,Spondylocostal dysostosis,TRUE,FALSE,Active +GARD:12175,Legacy,GARD,,,,,,,,,,,,Partial lipodystrophy,FALSE,FALSE,Retired +GARD:12176,Legacy,GARD,,,,,,,,,,,,Adrenal hyperplasia ,FALSE,FALSE,Draft +GARD:12177,Legacy,GARD,,,,,,,,,,,,Acquired Glanzmann Thrombasthenia,FALSE,FALSE,Draft +GARD:12178,Legacy,GARD,,,,,,,,,,,,Autoinflammatory pustular neutrophilic disease ,FALSE,FALSE,Draft +GARD:12179,Legacy,GARD,,,,,,,,,,,,Sulfite sensitivity,FALSE,FALSE,Draft +GARD:1218,Active,Orphanet,ORPHA:228337,Subtype of disorder,[Etiological subtype],CLN10 disease,[Cathepsin D deficiency],,[610127],,,,,Neuronal ceroid lipofuscinosis 10 ,TRUE,FALSE,Active +GARD:12180,Legacy,GARD,,,,,,,,,,,, Mitochondrial neurogastrointestinal encephalopathy disease (mngie),FALSE,FALSE,Retired +GARD:12181,Legacy,GARD,,,,,,,,,,,,Mitochondrial disease,FALSE,FALSE,Draft +GARD:12182,Legacy,GARD,,,,,,,,,,,,PIK3CA-related overgrowth spectrum,TRUE,FALSE,Active +GARD:12183,Legacy,GARD,,,,,,,,,,,,Alternaria,FALSE,FALSE,Draft +GARD:12184,Legacy,GARD,,,,,,,,,,,, Severe malignant osteopetrosis,FALSE,FALSE,Draft +GARD:12185,Active,Orphanet,ORPHA:65682,Disorder,[Disease],Benign recurrent intrahepatic cholestasis,"[BRIC, Summerskill-Walshe-Tygstrup syndrome]","Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term).","[243300, 605479]",,,,,Benign recurrent intrahepatic cholestasis,TRUE,FALSE,Active +GARD:12186,Legacy,GARD,,,,,,,,,,,,Melkersson Rosenthal Syndrome,FALSE,FALSE,Draft +GARD:12187,Legacy,GARD,,,,,,,,,,,,Muiltfocal non-infectious encephalitis,FALSE,FALSE,Draft +GARD:12188,Legacy,GARD,,,,,,,,,,,,Tracheomalacia,FALSE,FALSE,Retired +GARD:12189,Legacy,GARD,,,,,,,,,,,,Hyponatremia,FALSE,FALSE,Draft +GARD:1219,Active,Orphanet,ORPHA:228329,Subtype of disorder,[Etiological subtype],CLN1 disease,,,[256730],,,,,Ceroid lipofuscinosis neuronal 1,TRUE,FALSE,Active +GARD:12190,Legacy,GARD,,,,,,,,,,,,Sepsis ,FALSE,FALSE,Draft +GARD:12191,Legacy,GARD,,,,,,,,,,,,Deficiencia de isobutiril-CoA-deshidrogenasa,TRUE,TRUE,Active +GARD:12192,Legacy,GARD,,,,,,,,,,,,Peripheral neuropathy,FALSE,FALSE,Active +GARD:12193,Legacy,GARD,,,,,,,,,,,,Leukocytosis,FALSE,FALSE,Draft +GARD:12194,Legacy,GARD,,,,,,,,,,,,Posterior cortical atrophy (Benson's syndrome),FALSE,FALSE,Draft +GARD:12195,Legacy,GARD,,,,,,,,,,,,Paroxysmal dystonia,FALSE,FALSE,Draft +GARD:12196,Legacy,GARD,,,,,,,,,,,,Chromosome 1p36 duplication,FALSE,FALSE,Draft +GARD:12197,Legacy,GARD,,,,,,,,,,,,Infantile Myofibroma ,FALSE,FALSE,Active +GARD:12198,Legacy,GARD,,,,,,,,,,,,Antiphospholipid syndrome with lupus antibodies ,FALSE,FALSE,Draft +GARD:12199,Active,Orphanet,ORPHA:439212,Disorder,[Disease],Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,[EMARDD],"A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.",[614399],,,,,"Early-onset myopathy, areflexia, respiratory distress and dysphagia",TRUE,FALSE,Active +GARD:122,Active,Orphanet,ORPHA:85191,Disorder,[Malformation syndrome],Singleton-Merten dysplasia,[Singleton-Merten syndrome],"Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).","[616298, 182250]",,,,,Singleton-Merten syndrome,TRUE,FALSE,Active +GARD:1220,Active,Orphanet,ORPHA:228366,Subtype of disorder,[Etiological subtype],CLN7 disease,,,[610951],,,,,Neuronal ceroid lipofuscinosis 7,TRUE,FALSE,Active +GARD:12200,Legacy,GARD,,,,,,,,,,,,Hyperparathyroidism,FALSE,FALSE,Draft +GARD:12201,Legacy,GARD,,,,,,,,,,,,Adenolyosuccinate Lyase Deficiency ,FALSE,FALSE,Draft +GARD:12202,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal tipo 2,TRUE,TRUE,Active +GARD:12203,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal tipo 3,TRUE,TRUE,Active +GARD:12204,Legacy,GARD,,,,,,,,,,,,Atrofia muscular espinal tipo 4,TRUE,TRUE,Active +GARD:12205,Legacy,GARD,,,,,,,,,,,,Frontotemporal dementia with parkinsonism-17,FALSE,FALSE,Draft +GARD:12206,Legacy,GARD,,,,,,,,,,,,Pulsatile tinnitus,FALSE,FALSE,Draft +GARD:12207,Legacy,GARD,,,,,,,,,,,,Raoultella ornithinolytica,FALSE,FALSE,Draft +GARD:12208,Legacy,GARD,,,,,,,,,,,,Sudden unexplained nocturnal death syndrome,FALSE,FALSE,Draft +GARD:12210,Legacy,GARD,,,,,,,,,,,,Bladder cancer,FALSE,FALSE,Active +GARD:12211,Legacy,GARD,,,,,,,,,,,,eye floaters,FALSE,FALSE,Draft +GARD:12212,Legacy,GARD,,,,,,,,,,,,Pilomatrixomas,FALSE,FALSE,Draft +GARD:12213,Legacy,GARD,,,,,,,,,,,,Central auditory processing disorder (CAPD),FALSE,FALSE,Retired +GARD:12214,Legacy,GARD,,,,,,,,,,,,scar tissue as a result of vitrectomy ,FALSE,FALSE,Draft +GARD:12215,Legacy,GARD,,,,,,,,,,,,Síndrome nefrótico,FALSE,TRUE,Draft +GARD:12216,Legacy,GARD,,,,,,,,,,,,Adrenoleucodistrofia ligada al X ,TRUE,TRUE,Active +GARD:12217,Legacy,GARD,,,,,,,,,,,,Pudenal neuraligia,FALSE,FALSE,Draft +GARD:12218,Legacy,GARD,,,,,,,,,,,,Diabetes MODY,TRUE,TRUE,Draft +GARD:12219,Active,Orphanet,ORPHA:94065,Subtype of disorder,[Etiological subtype],15q24 microdeletion syndrome,"[Del(15)(q24), Monosomy 15q24]","15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.",[613406],,,,,15q24 microdeletion syndrome,TRUE,FALSE,Active +GARD:1222,Active,Orphanet,ORPHA:228343,Subtype of disorder,[Etiological subtype],CLN4B disease,,,[162350],,,,,Autosomal dominant neuronal ceroid lipofuscinosis 4B,TRUE,FALSE,Active +GARD:12220,Legacy,GARD,,,,,,,,,,,,Pulmonary embolism with acute pancreatitis,FALSE,FALSE,Draft +GARD:12221,Legacy,GARD,,,,,,,,,,,,nested variant of urothelial carcinoma,FALSE,FALSE,Draft +GARD:12222,Legacy,GARD,,,,,,,,,,,,Bronquiolitis obliterante ,TRUE,TRUE,Active +GARD:12223,Legacy,GARD,,,,,,,,,,,,Cataplexy,FALSE,FALSE,Draft +GARD:12224,Legacy,GARD,,,,,,,,,,,,Cowpox,FALSE,FALSE,Draft +GARD:12225,Legacy,GARD,,,,,,,,,,,,Spherocytosis,FALSE,FALSE,Draft +GARD:12226,Legacy,GARD,,,,,,,,,,,,Amyloidosis,FALSE,FALSE,Draft +GARD:12227,Legacy,GARD,,,,,,,,,,,,Chromosome 3q microduplication,FALSE,FALSE,Retired +GARD:12228,Legacy,GARD,,,,,,,,,,,,Síndrome de Morgagni-Stewart-Morel ,TRUE,TRUE,Active +GARD:12229,Legacy,GARD,,,,,,,,,,,,"47,XY,+i(8p)/46,XY (mosaic tetrasomy 8p)",FALSE,FALSE,Draft +GARD:1223,Active,Orphanet,ORPHA:228360,Subtype of disorder,[Etiological subtype],CLN5 disease,,,[256731],,,,,Neuronal ceroid lipofuscinosis 5,TRUE,FALSE,Active +GARD:12230,Legacy,GARD,,,,,,,,,,,,varicose vein ,FALSE,FALSE,Draft +GARD:12231,Legacy,GARD,,,,,,,,,,,,Neuralgia-inducing cavitational osteonecrosis (NICO),FALSE,FALSE,Draft +GARD:12232,Active,Orphanet,ORPHA:284324,Disorder,[Disease],Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,"[Autosomal recessive spinocerebellar ataxia type 7, SCAR7]","A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy.",[609270],,,,,Spinocerebellar ataxia autosomal recessive 7,TRUE,FALSE,Active +GARD:12233,Legacy,GARD,,,,,,,,,,,,MED23,TRUE,FALSE,Active +GARD:12234,Active,Orphanet,ORPHA:88644,Disorder,[Disease],"Autosomal recessive ataxia, Beauce type","[ARCA1, Autosomal recessive cerebellar ataxia type 1, SCAR8]",A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.,[610743],,,,,Spinocerebellar ataxia autosomal recessive 8,TRUE,FALSE,Active +GARD:12235,Legacy,GARD,,,,,,,,,,,,Hyperostosis frontalis interna,FALSE,FALSE,Draft +GARD:12236,Legacy,GARD,,,,,,,,,,,,Ischemic optic neuropathy,FALSE,FALSE,Draft +GARD:12237,Legacy,GARD,,,,,,,,,,,,Sensorineural hearing loss,FALSE,FALSE,Retired +GARD:12238,Legacy,GARD,,,,,,,,,,,,Chromosome 1 deletion,FALSE,FALSE,Draft +GARD:12239,Legacy,GARD,,,,,,,,,,,,ACTH deficiency,FALSE,FALSE,Draft +GARD:1224,Active,Orphanet,ORPHA:228363,Subtype of disorder,[Etiological subtype],CLN6 disease,,,[601780],,,,,Neuronal ceroid lipofuscinosis 6,TRUE,FALSE,Active +GARD:12240,Legacy,GARD,,,,,,,,,,,,athelia,FALSE,FALSE,Draft +GARD:12241,Active,Orphanet,ORPHA:309015,Subtype of disorder,[Etiological subtype],Familial lipoprotein lipase deficiency,[LPL deficiency],,"[144250, 238600]",,,,,Familial lipoprotein lipase deficiency,TRUE,FALSE,Active +GARD:12242,Legacy,GARD,,,,,,,,,,,,"Síndrome 47, XYY",TRUE,TRUE,Active +GARD:12243,Legacy,GARD,,,,,,,,,,,,Nonischemic cardiomyopathy,FALSE,FALSE,Draft +GARD:12244,Active,Orphanet,ORPHA:363558,Disorder,[Disease],New-onset refractory status epilepticus,[NORSE],"New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.",,,,,,New-onset refractory status epilepticus,TRUE,FALSE,Active +GARD:12245,Legacy,GARD,,,,,,,,,,,,Myopia,FALSE,FALSE,Draft +GARD:12246,Legacy,GARD,,,,,,,,,,,,Branch retinal vein occlusion,FALSE,FALSE,Draft +GARD:12247,Legacy,GARD,,,,,,,,,,,,barium toxicity ,FALSE,FALSE,Draft +GARD:12248,Legacy,GARD,,,,,,,,,,,,spastic paraplegia,FALSE,FALSE,Draft +GARD:12249,Legacy,GARD,,,,,,,,,,,,Latent autoimmune diabetes in adults,FALSE,FALSE,Draft +GARD:12250,Legacy,GARD,,,,,,,,,,,,Congenital unilateral lower lip paralysis,FALSE,FALSE,Draft +GARD:12251,Active,Orphanet,ORPHA:1885,Disorder,[Malformation syndrome],Isolated ectopia lentis,"[Ectopia lentis syndrome, Familial ectopia lentis]","Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.","[225100, 225200, 129600]",,,,,Isolated ectopia lentis,TRUE,FALSE,Active +GARD:12252,Legacy,GARD,,,,,,,,,,,,Chiari malformations,FALSE,FALSE,Retired +GARD:12253,Legacy,GARD,,,,,,,,,,,,Autoimmune blistering disease,FALSE,FALSE,Draft +GARD:12255,Legacy,GARD,,,,,,,,,,,,Síndrome de Klippel-Trénaunay,TRUE,TRUE,Active +GARD:12256,Legacy,GARD,,,,,,,,,,,,Hypogammaglobulinemia,FALSE,FALSE,Draft +GARD:12257,Active,Orphanet,ORPHA:300857,Disorder,[Disease],T-cell/histiocyte rich large B cell lymphoma,[THRLBCL],"T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL; see this term), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma (see these terms) and has an aggressive clinical course.",,,,,,T-cell/histiocyte rich large B cell lymphoma,TRUE,FALSE,Active +GARD:12258,Legacy,GARD,,,,,,,,,,,,Cataracts,FALSE,FALSE,Draft +GARD:12259,Legacy,GARD,,,,,,,,,,,,Glycogen storage disease,FALSE,FALSE,Draft +GARD:1226,Active,Orphanet,ORPHA:2218,Disorder,[Disease],Cervical hypertrichosis-peripheral neuropathy syndrome,,"A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.",[239840],,,,,Cervical hypertrichosis peripheral neuropathy,TRUE,FALSE,Active +GARD:12260,Legacy,GARD,,,,,,,,,,,,Síndrome del ojo de gato,TRUE,TRUE,Active +GARD:12261,Legacy,GARD,,,,,,,,,,,,Trisomy 15,FALSE,FALSE,Draft +GARD:12262,Legacy,GARD,,,,,,,,,,,,Syncope,FALSE,FALSE,Draft +GARD:12263,Legacy,GARD,,,,,,,,,,,,Proliferative verrucous leukoplakia,TRUE,FALSE,Active +GARD:12264,Active,Orphanet,ORPHA:36383,Disorder,[Disease],COL4A1-related familial vascular leukoencephalopathy,"[COL4A1-related brain small vessel disease with hemorrhage, COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome]","COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.",[175780],,,,,COL4A1-related brain small-vessel disease,FALSE,FALSE,Draft +GARD:12265,Legacy,GARD,,,,,,,,,,,,Methicillin-resistant Staphylococcus aureus,FALSE,FALSE,Draft +GARD:12266,Legacy,GARD,,,,,,,,,,,,"Blepharophimosis, ptosis, and epicanthus inversus syndrome",TRUE,FALSE,Active +GARD:12267,Active,Orphanet,ORPHA:88642,Disorder,[Disease],Congenital insensitivity to pain-anosmia-neuropathic arthropathy,[SCN9A-related congenital insensitivity to pain],,[243000],,,,,Congenital insensitivity to pain,TRUE,FALSE,Active +GARD:12268,Legacy,GARD,,,,,,,,,,,,Dimethylsulfidemia,TRUE,FALSE,Draft +GARD:12269,Legacy,GARD,,,,,,,,,,,,Hemihipertrofia,TRUE,TRUE,Active +GARD:1227,Legacy,GARD,,,,,,,,,,,,"Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction",TRUE,FALSE,Active +GARD:12270,Legacy,GARD,,,,,,,,,,,,Síndrome de Beckwith-Wiedemann ,TRUE,TRUE,Active +GARD:12271,Legacy,GARD,,,,,,,,,,,,Polymicrogyria,FALSE,FALSE,Active +GARD:12272,Legacy,GARD,,,,,,,,,,,,Abdominal adhesions,FALSE,FALSE,Draft +GARD:12273,Legacy,GARD,,,,,,,,,,,,Encephalomalacia,FALSE,FALSE,Draft +GARD:12274,Legacy,GARD,,,,,,,,,,,,Inflammatory arthritis,FALSE,FALSE,Draft +GARD:12275,Legacy,GARD,,,,,,,,,,,,Disaccharide deficiency,FALSE,FALSE,Draft +GARD:12276,Legacy,GARD,,,,,,,,,,,,Hereditary Neuropathy with Pressure Palsy,FALSE,FALSE,Draft +GARD:12277,Legacy,GARD,,,,,,,,,,,,Macular amyloidosis,FALSE,FALSE,Draft +GARD:12278,Legacy,GARD,,,,,,,,,,,,Gastroparesis,TRUE,FALSE,Active +GARD:12279,Legacy,GARD,,,,,,,,,,,,Malignant ectomesenchymoma ,TRUE,FALSE,Active +GARD:12280,Active,Orphanet,ORPHA:226298,Group of disorders,[Clinical group],Central congenital hypothyroidism,[Secondary hypothyroidism],Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.,,,,,,Central congenital hypothyroidism,TRUE,FALSE,Active +GARD:12281,Active,Orphanet,ORPHA:435988,Disorder,[Disease],Chronic atrial and intestinal dysrhythmia syndrome,"[CAID syndrome, Chronic atrial dysrhythmia-intestinal motility disorder]","A rare genetic disease characterized by co-occurrence of sick sinus syndrome (manifesting as sinus bradycardia, often requiring pacemaker implantation) and chronic intestinal pseudo-obstruction (which may be of myogenic or neurogenic origin and usually requires total parenteral nutrition), with an age of onset within the first four decades of life. Other cardiac features, such as atrial flutter or fibrillation and valve anomalies, may also be present.",[616201],,,,,CAID syndrome,TRUE,FALSE,Active +GARD:12282,Legacy,GARD,,,,,,,,,,,,Síndrome de Lynch,TRUE,TRUE,Active +GARD:12283,Legacy,GARD,,,,,,,,,,,,Myiasis,FALSE,FALSE,Draft +GARD:12285,Legacy,GARD,,,,,,,,,,,,Ovarian sex cord tumor with annular tubules,TRUE,FALSE,Active +GARD:12287,Legacy,GARD,,,,,,,,,,,,Tetrasomy 13,FALSE,FALSE,Draft +GARD:12288,Legacy,GARD,,,,,,,,,,,,Disostosis espondilotorácica,TRUE,TRUE,Active +GARD:12289,Legacy,GARD,,,,,,,,,,,,Ictiosis recesiva ligada al cromosoma X,TRUE,TRUE,Active +GARD:12290,Legacy,GARD,,,,,,,,,,,,Sclerocornea,FALSE,FALSE,Draft +GARD:12291,Active,Orphanet,ORPHA:48471,Group of disorders,[Category],Lissencephaly,,The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.,,,,,,Lissencephaly,TRUE,FALSE,Active +GARD:12292,Legacy,GARD,,,,,,,,,,,,Cholinergic urticaria,FALSE,FALSE,Draft +GARD:12293,Legacy,GARD,,,,,,,,,,,,Toxoplasmosis,FALSE,FALSE,Draft +GARD:12294,Legacy,GARD,,,,,,,,,,,,Diabetic ketoacidosis,FALSE,FALSE,Draft +GARD:12295,Legacy,GARD,,,,,,,,,,,,BPES,FALSE,FALSE,Draft +GARD:12296,Legacy,GARD,,,,,,,,,,,,Lactose Intolerance,FALSE,FALSE,Draft +GARD:12297,Legacy,GARD,,,,,,,,,,,,chromosome 2 paracentric inversion,FALSE,TRUE,Draft +GARD:12298,Legacy,GARD,,,,,,,,,,,,Major depressive disorder,FALSE,FALSE,Draft +GARD:12299,Active,Orphanet,ORPHA:75374,Disorder,[Disease],Bradyopsia,"[PERRS, Prolonged electroretinal response suppression]","Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.",[608415],,,,,Bradyopsia,TRUE,FALSE,Active +GARD:12300,Active,Orphanet,ORPHA:280270,Disorder,[Disease],Pelizaeus-Merzbacher-like disease,[PMLD],Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term).,"[612233, 260600, 608804, 300523]",,,,,Pelizaeus-Merzbacher-like disease,TRUE,FALSE,Active +GARD:12301,Active,Orphanet,ORPHA:614,Disorder,[Disease],Thomsen and Becker disease,[Myotonia congenita],"A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).","[160800, 255700]",,,,,Myotonia congenita,TRUE,FALSE,Active +GARD:12302,Legacy,GARD,,,,,,,,,,,,Livedo Reticularis,FALSE,FALSE,Draft +GARD:12303,Legacy,GARD,,,,,,,,,,,,Arthritis,FALSE,FALSE,Draft +GARD:12304,Legacy,GARD,,,,,,,,,,,,Niemann-Pick disease type C,TRUE,FALSE,Draft +GARD:12305,Legacy,GARD,,,,,,,,,,,,SCAR9,FALSE,FALSE,Retired +GARD:12306,Legacy,GARD,,,,,,,,,,,,Horsefly bite,FALSE,FALSE,Retired +GARD:12307,Legacy,GARD,,,,,,,,,,,,Cephalohematoma,FALSE,FALSE,Retired +GARD:12308,Active,Orphanet,ORPHA:293208,Disorder,[Disease],Celiac artery compression syndrome,"[Dunbar syndrome, MALS, Median arcuate ligament syndrome]","A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.",,,,,,Median arcuate ligament syndrome,TRUE,FALSE,Active +GARD:12309,Legacy,GARD,,,,,,,,,,,,Posterior reversible encephalopathy syndrome,FALSE,FALSE,Draft +GARD:12310,Legacy,GARD,,,,,,,,,,,,Ataxia,FALSE,FALSE,Draft +GARD:12311,Active,Orphanet,ORPHA:53690,Disorder,[Disease],Congenital lactase deficiency,,Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.,[223000],,,,,Congenital lactase deficiency,TRUE,FALSE,Active +GARD:12312,Active,Orphanet,ORPHA:85173,Disorder,[Malformation syndrome],IMAGe syndrome,[Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome],"A rare genetic disease characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalciuria, among others.",[614732],,,,,IMAGe syndrome,TRUE,FALSE,Active +GARD:12313,Legacy,GARD,,,,,,,,,,,,Familiar chronic mucocutaneous candidiasis,FALSE,FALSE,Active +GARD:12314,Active,Orphanet,ORPHA:391487,Disorder,[Disease],Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,,"An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.",[614162],,,,,Autosomal dominant candidiasis familial chronic mucocutaneous,TRUE,FALSE,Active +GARD:12315,Active,Orphanet,ORPHA:404454,Disorder,[Disease],Alacrimia-choreoathetosis-liver dysfunction syndrome,"[NGLY1 deficiency, NGLY1-CDDG]","A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.",[615273],,,,,Deficiency of N-glycanase 1,TRUE,FALSE,Active +GARD:12316,Active,Orphanet,ORPHA:436159,Disorder,[Disease],Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,"[ALPS due to CTLA4 haploinsuffiency, CHAI, CTLA-4 haploinsufficiency with autoimmune infiltration disease]","A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.",[616100],,,,,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,TRUE,FALSE,Active +GARD:12317,Legacy,GARD,,,,,,,,,,,,Dysgeusia,FALSE,FALSE,Draft +GARD:12318,Legacy,GARD,,,,,,,,,,,,Enfermedad de Danon,TRUE,TRUE,Active +GARD:12319,Legacy,GARD,,,,,,,,,,,,Genitourinary venolymphatic malformation,FALSE,FALSE,Draft +GARD:12320,Legacy,GARD,,,,,,,,,,,,Epiglottitis,FALSE,FALSE,Retired +GARD:12321,Legacy,GARD,,,,,,,,,,,,Double outlet right atrium,TRUE,FALSE,Active +GARD:12322,Legacy,GARD,,,,,,,,,,,,Skewfoot deformity,FALSE,FALSE,Draft +GARD:12323,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos,TRUE,TRUE,Active +GARD:12324,Legacy,GARD,,,,,,,,,,,,Seudotumor cerebri,TRUE,TRUE,Active +GARD:12325,Legacy,GARD,,,,,,,,,,,,4-aminobutyrate aminotransferase deficiency,FALSE,FALSE,Retired +GARD:12327,Legacy,GARD,,,,,,,,,,,,Metacondromatosis,TRUE,TRUE,Active +GARD:12328,Active,Orphanet,ORPHA:64752,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 5,"[Congenital insensitivity to pain and thermal analgesia, HSAN5, Hereditary sensory and autonomic neuropathy type V]","A disorder that is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.",[608654],,,,,Hereditary sensory and autonomic neuropathy type V,TRUE,FALSE,Active +GARD:12329,Legacy,GARD,,,,,,,,,,,,Liquen plano pigmentoso,TRUE,TRUE,Active +GARD:1233,Active,Orphanet,ORPHA:1401,Disorder,[Malformation syndrome],CHAND syndrome,"[Baughman syndrome, CHANDS, Curly hair-ankyloblepharon-nail dysplasia syndrome]","A rare ectodermal dysplasia syndrome characterized by the association of sparse, woolly, curly hair, ankyloblepharon, and nail dysplasia. Additional reported features include abnormal oral frenula, bifid tongue, lip pits, adhesions between upper and lower lips, hypertelorism and flat nasal bridge, alveolar synechia, and imperforate vagina.",[214350],,,,,CHAND syndrome,TRUE,FALSE,Retired +GARD:12330,Legacy,GARD,,,,,,,,,,,,Frontal lobe damage,FALSE,FALSE,Draft +GARD:12331,Active,Orphanet,ORPHA:36204,Group of disorders,[Clinical group],Intestinal lymphangiectasia,,,,,,,,Intestinal lymphangiectasia,TRUE,FALSE,Active +GARD:12332,Legacy,GARD,,,,,,,,,,,,Epstein-Barr virus,FALSE,FALSE,Retired +GARD:12334,Legacy,GARD,,,,,,,,,,,,Macular Pucker,FALSE,FALSE,Draft +GARD:12335,Active,Orphanet,ORPHA:213610,Disorder,[Disease],Carcinosarcoma of the corpus uteri,"[Malignant mixed Müllerian tumor of the corpus uteri, Mixed Müllerian cancer of corpus uteri, Uterine carcinosarcoma]","Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported.",,,,,,Uterine Carcinosarcoma ,TRUE,FALSE,Active +GARD:12336,Legacy,GARD,,,,,,,,,,,,Leukemia,FALSE,FALSE,Draft +GARD:12337,Legacy,GARD,,,,,,,,,,,,Retinal choroiditis,FALSE,FALSE,Retired +GARD:12338,Active,Orphanet,ORPHA:859,Disorder,[Disease],Transcobalamin deficiency,"[Inherited deficiency of transcobalamin, Transcobalamin II deficiency]","Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.",[275350],,,,,Transcobalamin II Deficiency,FALSE,FALSE,Active +GARD:12339,Legacy,GARD,,,,,,,,,,,,Acute Beryllium disease ,FALSE,FALSE,Retired +GARD:1234,Active,Orphanet,ORPHA:2235,Disorder,[Disease],Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,[Chang-Davidson-Carlson syndrome],This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa (see this term). It has been described in two sisters born to nonconsanguineous parents.,,,,,,Chang Davidson Carlson syndrome,TRUE,FALSE,Retired +GARD:12341,Legacy,GARD,,,,,,,,,,,,Nephrolithiasis,FALSE,FALSE,Draft +GARD:12342,Legacy,GARD,,,,,,,,,,,,Undifferentiated connective tissue disease ,FALSE,FALSE,Active +GARD:12343,Legacy,GARD,,,,,,,,,,,,Ataxia espinocerebelosa,TRUE,TRUE,Active +GARD:12344,Active,Orphanet,ORPHA:254367,Group of disorders,[Category],Rare lichen planus,[Rare LP],"Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides (see these terms). Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis (see these terms).",,,,,,Rare lichen planus,TRUE,FALSE,Active +GARD:12345,Legacy,GARD,,,,,,,,,,,,Síndrome de MonoMAC ,TRUE,TRUE,Active +GARD:12346,Legacy,GARD,,,,,,,,,,,,Cylindroma,TRUE,FALSE,Retired +GARD:12347,Active,Orphanet,ORPHA:38874,Disorder,[Disease],Dihydropyrimidinuria,[Dihydropyrimidinase deficiency],"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.",[222748],,,,,Dihydropyrimidinase deficiency,TRUE,FALSE,Active +GARD:12348,Active,Orphanet,ORPHA:263487,Disorder,[Disease],COG5-CDG,"[CDG syndrome type IIi, CDG-IIi, CDG2I, Carbohydrate deficient glycoprotein syndrome type IIi, Congenital disorder of glycosylation type 2i, Congenital disorder of glycosylation type IIi]","COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.",[613612],,,,,COG5-CDG (CDG-IIi),TRUE,FALSE,Active +GARD:1235,Active,Orphanet,ORPHA:3282,Disorder,[Disease],Multifocal atrial tachycardia,"[Chaotic atrial tachycardia, MAT]",Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.,,,,,,Chaotic atrial tachycardia,TRUE,FALSE,Active +GARD:12350,Legacy,GARD,,,,,,,,,,,,Congenital disorders of glycosylation type IIi,TRUE,FALSE,Retired +GARD:12351,Active,Orphanet+OMIM,OMIM:604370,Subtype of disorder,[Disease subtype],"Breast-ovarian cancer, familial, susceptibility to, 1",[Hboc1],,[604370],[145],[Hereditary breast and ovarian cancer syndrome],[15010],,BRCA1 hereditary breast and ovarian cancer syndrome,TRUE,FALSE,Active +GARD:12352,Active,Orphanet+OMIM,OMIM:612555,Subtype of disorder,[Disease subtype],"Breast-ovarian cancer, familial, susceptibility to, 2",[Hboc2],,[612555],[145],[Hereditary breast and ovarian cancer syndrome],[15010],,BRCA2 hereditary breast and ovarian cancer syndrome,TRUE,FALSE,Active +GARD:12353,Active,Orphanet,ORPHA:324442,Disorder,[Disease],Autosomal recessive axonal neuropathy with neuromyotonia,"[ARAN-NM, ARCMT2-NM, Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia]","A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.",[137200],,,,,Autosomal recessive axonal neuropathy with neuromyotonia,TRUE,FALSE,Active +GARD:12354,Active,Orphanet,ORPHA:93610,Subtype of disorder,[Clinical subtype],Distal renal tubular acidosis with anemia,[dRTA with anemia],A rare form of distal renal tubular acidosis characterized by a defect in renal acidification and hereditary hemolytic anemia.,[611590],,,,,Distal renal tubular acidosis with hemolytic anemia,TRUE,FALSE,Active +GARD:12355,Legacy,GARD,,,,,,,,,,,,SLC4A1-associated distal renal tubular acidosis,TRUE,FALSE,Active +GARD:12356,Active,Orphanet+OMIM,OMIM:615582,Subtype of disorder,[Disease subtype],Loeys-dietz syndrome 5,[Rienhoff syndrome],"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by {1:Bertoli-Avella et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 ({609192}).",[615582],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,Rienhoff syndrome,TRUE,FALSE,Active +GARD:12357,Active,Orphanet,ORPHA:425120,Disorder,[Disease],STING-associated vasculopathy with onset in infancy,[SAVI],"STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.",[615934],,,,,STING-associated vasculopathy with onset in infancy,TRUE,FALSE,Active +GARD:12358,Legacy,GARD,,,,,,,,,,,,Recurrent hydatidiform mole,TRUE,FALSE,Active +GARD:12359,Legacy,GARD,,,,,,,,,,,,optic nerve atrophy,FALSE,FALSE,Retired +GARD:12360,Active,Orphanet,ORPHA:83642,Disorder,[Disease],Microcytic anemia with liver iron overload,,A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.,[206100],,,,,Hypochromic microcytic anemia with iron overload,TRUE,FALSE,Active +GARD:12361,Legacy,GARD,,,,,,,,,,,,Eosinophil peroxidase deficiency,TRUE,FALSE,Active +GARD:12362,Active,Orphanet,ORPHA:251274,Disorder,[Disease],Familial hyperaldosteronism type III,"[FH-III, FH3, Familial hyperaldosteronism type 3]","A rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non- glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.",[613677],,,,,Familial hyperaldosteronism type III ,TRUE,FALSE,Active +GARD:12363,Legacy,GARD,,,,,,,,,,,,Oncopsychosis,FALSE,FALSE,Retired +GARD:12364,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia 22,TRUE,FALSE,Retired +GARD:12365,Active,Orphanet,ORPHA:98772,Disorder,[Disease],Spinocerebellar ataxia type 19/22,[SCA19/22],"Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.",[607346],,,,,Spinocerebellar ataxia 19 and 22,TRUE,FALSE,Active +GARD:12366,Active,Orphanet,ORPHA:276193,Disorder,[Disease],Spinocerebellar ataxia type 35,[SCA35],"An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis.",[613908],,,,,Spinocerebellar ataxia 35,TRUE,FALSE,Active +GARD:12367,Active,Orphanet,ORPHA:276198,Disorder,[Disease],Spinocerebellar ataxia type 36,"[Asidan, SCA36]","An autosomal dominant cerebellar ataxia type 1 that characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.",[614153],,,,,Spinocerebellar ataxia 36,TRUE,FALSE,Active +GARD:12368,Active,Orphanet,ORPHA:363710,Disorder,[Disease],Spinocerebellar ataxia type 37,"[SCA37, Spinocerebellar ataxia with altered vertical eye movements]",An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements.,[615945],,,,,Spinocerebellar ataxia 37,TRUE,FALSE,Active +GARD:12369,Active,Orphanet,ORPHA:423296,Disorder,[Disease],Spinocerebellar ataxia type 38,[SCA38],"Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.",[615957],,,,,Spinocerebellar ataxia 38,TRUE,FALSE,Active +GARD:1237,Active,Orphanet,ORPHA:46627,Disorder,[Malformation syndrome],Char syndrome,[Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).",[169100],,,,,Char syndrome,TRUE,FALSE,Active +GARD:12370,Legacy,GARD,,,,,,,,,,,,Spinal cerebellar ataxia 40,TRUE,FALSE,Retired +GARD:12371,Active,Orphanet,ORPHA:423275,Disorder,[Disease],Spinocerebellar ataxia type 40,[SCA40],"Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.",[616053],,,,,Spinocerebellar ataxia 40,TRUE,FALSE,Active +GARD:12372,Active,Orphanet,ORPHA:314404,Disorder,[Disease],Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,"[ADCA-DN syndrome, Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome]","A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.",[604121],,,,,"Autosomal dominant cerebellar ataxia, deafness, and narcolepsy",TRUE,FALSE,Active +GARD:12373,Legacy,GARD,,,,,,,,,,,,Síndrome de Hennekam,TRUE,TRUE,Active +GARD:12374,Legacy,GARD,,,,,,,,,,,,Esclerosis lateral amiotrófica,TRUE,TRUE,Active +GARD:12375,Active,Orphanet,ORPHA:228000,Disorder,[Biological anomaly],Idiopathic CD4 lymphocytopenia,,"Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.",[615518],,,,,Idiopathic CD4 positive T-lymphocytopenia,TRUE,FALSE,Active +GARD:12376,Legacy,GARD,,,,,,,,,,,,Rubeola congénita,TRUE,TRUE,Active +GARD:12377,Legacy,GARD,,,,,,,,,,,,Hypertrichosis ,FALSE,FALSE,Active +GARD:12378,Legacy,GARD,,,,,,,,,,,,Macular Hole,FALSE,FALSE,Draft +GARD:12379,Legacy,GARD,,,,,,,,,,,,Transcobalamin 2 deficiency,FALSE,FALSE,Retired +GARD:12380,Legacy,GARD,,,,,,,,,,,,Spinal Stenosis,FALSE,FALSE,Draft +GARD:12381,Legacy,GARD,,,,,,,,,,,,Boils,FALSE,FALSE,Retired +GARD:12382,Active,Orphanet,ORPHA:168593,Disorder,[Malformation syndrome],Sudden infant death-dysgenesis of the testes syndrome,[SIDDT],Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.,[608800],,,,,Sudden infant death with dysgenesis of the testes syndrome,TRUE,FALSE,Active +GARD:12383,Active,Orphanet,ORPHA:404553,Disorder,[Disease],Vasculitis due to ADA2 deficiency,[Vasculitis due to DADA2],"Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.",[615688],,,,,Adenosine Deaminase 2 deficiency,TRUE,FALSE,Active +GARD:12384,Active,Orphanet,ORPHA:324561,Disorder,[Disease],Hypopigmentation-punctate palmoplantar keratoderma syndrome,"[Cole disease, Guttate hypopigmentation and punctate palmoplantar keratoderma, Hypopigmentation and punctate keratosis of the palms and soles]","A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated.",[615522],,,,,Cole disease ,TRUE,FALSE,Active +GARD:12385,Active,Orphanet,ORPHA:137893,Subtype of disorder,[Clinical subtype],Male infertility due to large-headed multiflagellar polyploid spermatozoa,"[Macrocephalic sperm head syndrome, Male infertility due to macrozoospermia]","A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).",[243060],,,,,Macrozoospermia ,TRUE,FALSE,Active +GARD:12386,Legacy,GARD,,,,,,,,,,,,Trastorno bipolar ,FALSE,TRUE,Active +GARD:12387,Legacy,GARD,,,,,,,,,,,,Fibrosis retroperitoneal,TRUE,TRUE,Active +GARD:12388,Active,Orphanet,ORPHA:370079,Disorder,[Malformation syndrome],Proximal 16p11.2 microduplication syndrome,"[Proximal dup(16)(p11.2), Proximal trisomy 16p11.2]","Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.",[614671],,,,,16p11.2 duplication,TRUE,FALSE,Active +GARD:12389,Legacy,GARD,,,,,,,,,,,,Milk protein allergy,FALSE,FALSE,Retired +GARD:12390,Active,Orphanet,ORPHA:37748,Disorder,[Malformation syndrome],Schnitzler syndrome,"[Chronic urticaria with gammopathy, Chronic urticaria with macroglobulinemia]","Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.",,,,,,Schnitzler syndrome,TRUE,FALSE,Active +GARD:12391,Active,Orphanet+OMIM,OMIM:616056,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 26,"[Epileptic encephalopathy, early infantile, 26]","Developmental and epileptic encephalopathy-26 (DEE26) is a neurologic disorder characterized by onset of variable types of seizures late in infancy or in the first years of life. Affected children show developmental delay with intellectual disability, poor speech, and behavioral abnormalities. EEG shows multifocal epileptic discharges, and may show hypsarrhythmia (summary by {1:Torkamani et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616056],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,Early infantile epileptic encephalopathy 26 ,TRUE,FALSE,Active +GARD:12392,Legacy,GARD,,,,,,,,,,,,Cutaneous-skeletal hypophosphatemia syndrome ,TRUE,FALSE,Active +GARD:12393,Active,Orphanet,ORPHA:91131,Disorder,[Disease],DK1-CDG,"[CDG syndrome type Im, CDG-Im, CDG1M, Carbohydrate deficient glycoprotein syndrome type Im, Congenital disorder of glycosylation type 1m, Congenital disorder of glycosylation type Im, Dolichol kinase deficiency, Hypotonia and ichthyosis due to dolichol phosphate deficiency]","DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.",[610768],,,,,DOLK-CDG (CDG-Im),TRUE,FALSE,Active +GARD:12394,Active,Orphanet,ORPHA:244310,Disorder,[Disease],RFT1-CDG,"[CDG syndrome type In, CDG-In, CDG1N, Carbohydrate deficient glycoprotein syndrome type In, Congenital disorder of glycosylation type 1n, Congenital disorder of glycosylation type In, Man5GlcNAc2-PP-Dol flippase deficiency]","RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).",[612015],,,,,RFT1-CDG (CDG-In),TRUE,FALSE,Active +GARD:12395,Active,Orphanet,ORPHA:263494,Disorder,[Disease],DPM3-CDG,"[CDG syndrome type Io, CDG-Io, CDG1O, Carbohydrate deficient glycoprotein syndrome type Io, Congenital disorder of glycosylation type 1o, Congenital disorder of glycosylation type Io]","DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).",[612937],,,,,DPM3-CDG (CDG-Io),TRUE,FALSE,Active +GARD:12396,Active,Orphanet,ORPHA:280071,Disorder,[Disease],ALG11-CDG,"[CDG syndrome type Ip, CDG-Ip, CDG1P, Carbohydrate deficient glycoprotein syndrome type Ip, Congenital disorder of glycosylation type 1p, Congenital disorder of glycosylation type Ip]","A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).",[613661],,,,,ALG11-CDG (CDG-Ip),TRUE,FALSE,Active +GARD:12397,Active,Orphanet,ORPHA:324737,Disorder,[Disease],SRD5A3-CDG,"[CDG syndrome type Iq, CDG-Iq, CDG1Q, Congenital disorder of glycosylation type 1q, Congenital disorder of glycosylation type Iq]","SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.",[612379],,,,,SRD5A3-CDG (CDG-Iq) ,TRUE,FALSE,Active +GARD:12398,Active,Orphanet,ORPHA:300536,Disorder,[Disease],DDOST-CDG,"[CDG syndrome type Ir, CDG-Ir, CDG1R, Carbohydrate deficient glycoprotein syndrome type Ir, Congenital disorder of glycosylation type 1r, Congenital disorder of glycosylation type Ir]","DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).",[614507],,,,,DDOST-CDG (CDG-Ir),TRUE,FALSE,Active +GARD:12399,Legacy,GARD,,,,,,,,,,,,MAGT1-CDG,FALSE,FALSE,Active +GARD:124,Legacy,GARD,,,,,,,,,,,,Allain-Babin-Demarquez syndrome,TRUE,FALSE,Active +GARD:1240,Active,Orphanet,ORPHA:101078,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 4,"[CMT4X, CMTX4, Cowchock syndrome]","X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.",[310490],,,,,X-linked Charcot-Marie-Tooth disease type 4,TRUE,FALSE,Active +GARD:12400,Legacy,GARD,,,,,,,,,,,,TUSC3-CDG,TRUE,FALSE,Active +GARD:12401,Active,Orphanet,ORPHA:324422,Disorder,[Disease],ALG13-CDG,"[CDG syndrome type Is, CDG-Is, CDG1S, Congenital disorder of glycosylation type 1s, Congenital disorder of glycosylation type Is]","A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).",[300884],,,,,ALG13-CDG,TRUE,FALSE,Active +GARD:12403,Active,Orphanet,ORPHA:356961,Disorder,[Disease],SLC35A2-CDG,"[CDG syndrome type IIm, CDG-IIm, CDG2M, Congenital disorder of glycosylation type 2m, Congenital disorder of glycosylation type IIm]","A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).",[300896],,,,,SLC35A2-CDG,TRUE,FALSE,Active +GARD:12404,Active,Orphanet+OMIM,OMIM:615510,Subtype of disorder,[Disease subtype],"Alacrima, achalasia, and mental retardation syndrome",,"Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome ({231550}), but patients with AAMR do not have adrenal insufficiency (summary by {3:Koehler et al., 2013}).\n\nSee also {300858} for a phenotypically similar disorder that shows X-linked inheritance.",[615510],[869],[Triple A syndrome],[457],,GMPPA-CDG,TRUE,FALSE,Active +GARD:12405,Active,Orphanet,ORPHA:370927,Disorder,[Disease],SSR4-CDG,"[CDG syndrome type Iy, CDG-Iy, CDG1Y, Carbohydrate deficient glycoprotein syndrome type Iy, Congenital disorder of glycosylation type 1y, Congenital disorder of glycosylation type Iy]","SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).",[300934],,,,,SSR4-CDG,TRUE,FALSE,Active +GARD:12406,Legacy,GARD,,,,,,,,,,,,STT3A-CDG and STT3B-CDG,TRUE,FALSE,Active +GARD:12407,Legacy,GARD,,,,,,,,,,,,Adverse events of 5-alpha-reductase inhibitors,TRUE,FALSE,Active +GARD:12408,Legacy,GARD,,,,,,,,,,,,COG7-CDG ,TRUE,FALSE,Retired +GARD:12409,Active,Orphanet,ORPHA:238459,Disorder,[Disease],SLC35A1-CDG,"[CDG syndrome type IIf, CDG-IIf, CDG2F, CMP-sialic acid transporter deficiency, Carbohydrate deficient glycoprotein syndrome type IIf, Congenital disorder of glycosylation type 2f, Congenital disorder of glycosylation type IIf]","SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.",[603585],,,,,SLC35A1-CDG (CDG-IIf),TRUE,FALSE,Active +GARD:1241,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease deafness recessive type,TRUE,FALSE,Retired +GARD:12410,Legacy,GARD,,,,,,,,,,,,COG1-CDG ,FALSE,FALSE,Retired +GARD:12411,Active,Orphanet,ORPHA:95428,Disorder,[Disease],COG8-CDG,"[CDG syndrome type IIh, CDG-IIh, CDG2H, Carbohydrate deficient glycoprotein syndrome type IIh, Congenital disorder of glycosylation type 2h, Congenital disorder of glycosylation type IIh]","The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.",[611182],,,,,COG8-CDG (CDG-IIh),TRUE,FALSE,Active +GARD:12412,Active,Orphanet,ORPHA:263501,Disorder,[Disease],COG4-CDG,"[CDG syndrome type IIj, CDG-IIj, CDG2J, Carbohydrate deficient glycoprotein syndrome type IIj, Congenital disorder of glycosylation type 2j, Congenital disorder of glycosylation type IIj]","COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.",[613489],,,,,COG4-CDG (CDG-IIj),TRUE,FALSE,Active +GARD:12413,Active,Orphanet,ORPHA:314667,Disorder,[Disease],TMEM165-CDG,"[CDG syndrome type IIk, CDG-IIk, CDG2K, Carbohydrate deficient glycoprotein syndrome type IIk, Congenital disorder of glycosylation type 2k, Congenital disorder of glycosylation type IIk]","TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).",[614727],,,,,TMEM165-CDG (CDG-IIk),TRUE,FALSE,Active +GARD:12414,Legacy,GARD,,,,,,,,,,,,COG6-CDG ,TRUE,FALSE,Retired +GARD:12415,Legacy,GARD,,,,,,,,,,,,DHDDS-CDG,TRUE,FALSE,Active +GARD:12416,Active,Orphanet,ORPHA:329178,Disorder,[Disease],Congenital muscular dystrophy with intellectual disability and severe epilepsy,"[CDG syndrome type Iu, CDG-Iu, CDG1U, CMD with intellectual disability and severe epilepsy, Carbohydrate deficient glycoprotein syndrome type Iu, Congenital disorder of glycosylation type 1u, Congenital disorder of glycosylation type Iu, DPM2-CDG]","Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.",[615042],,,,,DPM2-CDG,TRUE,FALSE,Active +GARD:12417,Active,Orphanet,ORPHA:397941,Disorder,[Disease],MAN1B1-CDG,"[Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency, Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency, Congenital disorder of glycosylation type II due to MAN1B1 deficiency, Intellectual disability-truncal obesity syndrome]","MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).",,,,,,MAN1B1-CDG,TRUE,FALSE,Active +GARD:12418,Legacy,GARD,,,,,,,,,,,,Galactosemia,TRUE,TRUE,Active +GARD:12419,Legacy,GARD,,,,,,,,,,,,Enfermedad de Kawasaki ,TRUE,TRUE,Active +GARD:1242,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth type 1 aplasia cutis congenita,TRUE,FALSE,Retired +GARD:12420,Legacy,GARD,,,,,,,,,,,,Intracranial lipoma,FALSE,FALSE,Retired +GARD:12421,Active,Orphanet,ORPHA:263775,Group of disorders,[Category],Partial duplication of the short arm of chromosome X,"[Partial duplication of chromosome Xp, Partial trisomy of chromosome Xp, Partial trisomy of the short arm of chromosome X]",,,,,,,Partial duplication of the short arm of chromosome X,TRUE,FALSE,Active +GARD:12422,Legacy,GARD,,,,,,,,,,,,Enfermedad de Caffey ,TRUE,TRUE,Active +GARD:12423,Legacy,GARD,,,,,,,,,,,,Hipocondroplasia,TRUE,TRUE,Active +GARD:12425,Legacy,GARD,,,,,,,,,,,,Head and neck cancer,FALSE,FALSE,Active +GARD:12426,Active,Orphanet,ORPHA:1229,Disorder,[Malformation syndrome],Congenital intrauterine infection-like syndrome,"[BLC-PMG, Baraitser-Brett-Piesowicz syndrome, Baraitser-Reardon syndrome, Bilateral band-like calcification with polymicrogyria, Microcephaly-intracranial calcification-intellectual disability syndrome, Pseudo-TORCH syndrome]","Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.",[251290],,,,,Congenital intrauterine infection-like syndrome,TRUE,FALSE,Active +GARD:12427,Legacy,GARD,,,,,,,,,,,,Systemic sclerosis ,TRUE,FALSE,Retired +GARD:12428,Active,Orphanet,ORPHA:280779,Disorder,[Disease],Cutaneous collagenous vasculopathy,[CCV],"Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.",,,,,,Cutaneous collagenous vasculopathy,TRUE,FALSE,Active +GARD:12429,Active,Orphanet,ORPHA:228174,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2N,[CMT2N],"A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.",[613287],,,,,Charcot-Marie-Tooth disease type 2N,TRUE,FALSE,Active +GARD:1243,Active,Orphanet,ORPHA:101076,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 2,[CMTX2],"X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.",[302801],,,,,X-linked Charcot-Marie-Tooth disease type 2,TRUE,FALSE,Active +GARD:12430,Legacy,GARD,,,,,,,,,,,,CREST syndromes,TRUE,FALSE,Retired +GARD:12431,Active,Orphanet,ORPHA:64746,Group of disorders,[Clinical group],Autosomal dominant Charcot-Marie-Tooth disease type 2,"[Autosomal dominant axonal Charcot-Marie-Tooth disease, CMT2, Hereditary motor and sensory neuropathy type 2]",,,,,,,Charcot-Marie-Tooth disease type 2,TRUE,FALSE,Active +GARD:12432,Active,Orphanet,ORPHA:99945,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2L,[CMT2L],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.",[608673],,,,,Charcot-Marie-Tooth disease type 2L,TRUE,FALSE,Active +GARD:12433,Active,Orphanet,ORPHA:65753,Group of disorders,[Clinical group],Charcot-Marie-Tooth disease type 1,"[Autosomal dominant demyelinating Charcot-Marie-Tooth disease, CMT1, Charcot-Marie-Tooth neuropathy type 1, Hereditary motor and sensory neuropathy type 1]","Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.",,,,,,Charcot-Marie-Tooth disease type 1,TRUE,FALSE,Active +GARD:12434,Active,Orphanet,ORPHA:284232,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2O,[CMT2O],"A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.",[614228],,,,,Charcot-Marie-Tooth disease type 2O,TRUE,FALSE,Active +GARD:12435,Active,Orphanet,ORPHA:300319,Disorder,[Disease],Charcot-Marie-Tooth disease type 2P,[CMT2P],"Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.",[614436],,,,,Charcot-Marie-Tooth disease type 2P,TRUE,FALSE,Active +GARD:12436,Active,Orphanet,ORPHA:90114,Group of disorders,[Clinical group],Autosomal dominant intermediate Charcot-Marie-Tooth disease,[CMTDI],,,,,,,Autosomal dominant intermediate Charcot-Marie-Tooth,TRUE,FALSE,Active +GARD:12437,Active,Orphanet,ORPHA:100043,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,[CMTDIA],"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.",[606483],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,TRUE,FALSE,Active +GARD:12438,Active,Orphanet,ORPHA:100044,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,[CMTDIB],"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.",[606482],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,TRUE,FALSE,Active +GARD:12439,Active,Orphanet,ORPHA:100045,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,[CMTDIC],"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.",[608323],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,TRUE,FALSE,Active +GARD:1244,Active,Orphanet,ORPHA:101077,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 3,"[CMT3X, CMTX3]","X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.",[302802],,,,,X-linked Charcot-Marie-Tooth disease type 3,TRUE,FALSE,Active +GARD:12440,Active,Orphanet,ORPHA:64749,Group of disorders,[Clinical group],Charcot-Marie-Tooth disease type 4,"[AR-CMT1, Autosomal recessive demyelinating Charcot-Marie-Tooth, CMT4]",A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.,,,,,,Charcot-Marie-Tooth disease type 4,TRUE,FALSE,Active +GARD:12441,Active,Orphanet,ORPHA:99952,Disorder,[Disease],Charcot-Marie-Tooth disease type 4F,[CMT4F],"Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.",[614895],,,,,Charcot-Marie-Tooth disease type 4F,TRUE,FALSE,Active +GARD:12442,Active,Orphanet,ORPHA:99954,Disorder,[Disease],Charcot-Marie-Tooth disease type 4H,[CMT4H],"Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.",[609311],,,,,Charcot-Marie-Tooth disease type 4H,TRUE,FALSE,Active +GARD:12443,Active,Orphanet,ORPHA:139515,Disorder,[Disease],Charcot-Marie-Tooth disease type 4J,[CMT4J],"Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.",[611228],,,,,Charcot-Marie-Tooth disease type 4J,TRUE,FALSE,Active +GARD:12444,Active,Orphanet,ORPHA:64747,Group of disorders,[Clinical group],X-linked Charcot-Marie-Tooth disease,"[CMTX, X-linked hereditary motor and sensory neuropathy]",A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.,,,,,,X-linked Charcot-Marie-Tooth disease,TRUE,FALSE,Active +GARD:12445,Active,Orphanet,ORPHA:352675,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 6,"[CMT6X, CMTX6]","X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).",[300905],,,,,X-linked Charcot-Marie-Tooth disease type 6,TRUE,FALSE,Active +GARD:12446,Active,Orphanet,ORPHA:329258,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2Q,[CMT2Q],"A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.",[615025],,,,,Charcot-Marie-Tooth disease type 2Q,TRUE,FALSE,Active +GARD:12447,Active,Orphanet,ORPHA:401964,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,"[Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons, CMT2 with giant axons, HMSN2 with giant axons]","A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.",[610100],,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,TRUE,FALSE,Active +GARD:12448,Active,Orphanet,ORPHA:101097,Disorder,[Disease],Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,"[ARCMT2K, Autosomal recessive axonal CMT4C4, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K]","A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.","[607706, 607831]",,,,,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,TRUE,FALSE,Active +GARD:12449,Active,Orphanet,ORPHA:91024,Group of disorders,[Clinical group],Autosomal recessive axonal hereditary motor and sensory neuropathy,"[AR-CMT2, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2]",,,,,,,Autosomal recessive axonal Charcot-Marie-Tooth disease type 2,TRUE,FALSE,Retired +GARD:1245,Active,Orphanet,ORPHA:101081,Disorder,[Disease],Charcot-Marie-Tooth disease type 1A,"[CMT1A, Microduplication 17p12]",,[118220],,,,,Charcot-Marie-Tooth disease type 1A,TRUE,FALSE,Active +GARD:12451,Active,Orphanet,ORPHA:397968,Disorder,[Disease],Charcot-Marie-Tooth disease type 2R,[CMT2R],"Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.",[615490],,,,,Charcot-Marie-Tooth disease type 2R,TRUE,FALSE,Active +GARD:12452,Active,Orphanet,ORPHA:268337,Group of disorders,[Clinical group],Autosomal recessive intermediate Charcot-Marie-Tooth disease,[RI-CMT],,,,,,,Autosomal recessive intermediate Charcot-Marie-Tooth disease ,TRUE,FALSE,Active +GARD:12453,Active,Orphanet,ORPHA:217055,Disorder,[Disease],Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,[RI-CMT type A],"A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.",[608340],,,,,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,TRUE,FALSE,Active +GARD:12454,Active,Orphanet,ORPHA:254334,Disorder,[Disease],Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,[RI-CMT type B],"An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.",[613641],,,,,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,TRUE,FALSE,Active +GARD:12455,Legacy,GARD,,,,,,,,,,,,Hemoglobinopathy,FALSE,FALSE,Active +GARD:12456,Legacy,GARD,,,,,,,,,,,,Sickle cell disease and related disorders,FALSE,FALSE,Active +GARD:12457,Legacy,GARD,,,,,,,,,,,,Hereditary persistence of fetal hemoglobin - sickle cell disease,FALSE,FALSE,Active +GARD:12458,Active,Orphanet,ORPHA:251370,Disorder,[Disease],Sickle cell-hemoglobin D disease syndrome,[HbSD disease],"A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.",,,,,,Sickle cell - hemoglobin D disease,TRUE,FALSE,Active +GARD:12459,Active,Orphanet,ORPHA:251355,Group of disorders,[Category],Sickle cell disease associated with another hemoglobin anomaly,[Double heterozygotes sickling disorder],,,,,,,Sickle cell disease associated with an other hemoglobin anomaly,TRUE,FALSE,Active +GARD:1246,Active,Orphanet,ORPHA:101082,Disorder,[Disease],Charcot-Marie-Tooth disease type 1B,[CMT1B],"Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.",[118200],,,,,Charcot-Marie-Tooth disease type 1B,TRUE,FALSE,Active +GARD:12460,Legacy,GARD,,,,,,,,,,,,Postaxial polydactyly of the fingers,FALSE,FALSE,Active +GARD:12461,Legacy,GARD,,,,,,,,,,,,Breast cancer,FALSE,FALSE,Draft +GARD:12462,Legacy,GARD,,,,,,,,,,,,Síndrome de Goldenhar ,TRUE,TRUE,Active +GARD:12464,Legacy,GARD,,,,,,,,,,,,Hyperinsulinemia,FALSE,FALSE,Retired +GARD:12465,Legacy,GARD,,,,,,,,,,,,Thrombotic Microangiopathy,FALSE,FALSE,Active +GARD:12467,Legacy,GARD,,,,,,,,,,,,Fibrosis quística,TRUE,TRUE,Active +GARD:12468,Legacy,GARD,,,,,,,,,,,,Heterotopía periventricular nodular ligada al cromosoma X,TRUE,TRUE,Active +GARD:12469,Active,Orphanet,ORPHA:35706,Disorder,[Disease],Glutaric acidemia type 3,"[Glutaric aciduria type 3, Glutaryl-CoA oxidase deficiency]",A rare inborn error of metabolism characterized by abnormally high urinary excretion of glutaric acid due to peroxisomal glutaryl-CoA oxidase deficiency. There is no association with a specific clinical phenotype.,[231690],,,,,Glutaric acidemia type III,TRUE,FALSE,Active +GARD:1247,Active,Orphanet,ORPHA:101083,Disorder,[Disease],Charcot-Marie-Tooth disease type 1C,[CMT1C],"A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.",[601098],,,,,Charcot-Marie-Tooth disease type 1C,TRUE,FALSE,Active +GARD:12470,Active,Orphanet,ORPHA:79188,Group of disorders,[Category],Peroxisomal beta-oxidation disorder,,,,,,,,Peroxisomal beta-oxidation disorder,TRUE,FALSE,Active +GARD:12471,Active,Orphanet,ORPHA:163684,Disorder,[Disease],Leukoencephalopathy-dystonia-motor neuropathy syndrome,,"Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.",[613724],,,,,Leukoencephalopathy - dystonia - motor neuropathy ,TRUE,FALSE,Active +GARD:12472,Active,Orphanet,ORPHA:369942,Disorder,[Disease],CADDS,"[Contiguous ABCD1 DXS1357E deletion syndrome, Zellweger-like contiguous gene deletion syndrome]","CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).",[300475],,,,,"Deafness, dystonia, and cerebral hypomyelination ",TRUE,FALSE,Active +GARD:12473,Legacy,GARD,,,,,,,,,,,,Ehlers-Danlos syndrome with periventricular heterotopia,TRUE,FALSE,Retired +GARD:12474,Active,Orphanet,ORPHA:75392,Disorder,[Disease],Periodontal Ehlers-Danlos syndrome,"[EDS VIII, Ehlers-Danlos syndrome type 8, Ehlers-Danlos syndrome, periodontitis type, Periodontal EDS, pEDS]","A rare type of Ehlers-Danlos syndrome characterized by childhood or adolescence onset of severe, intractable periodontitis, lack of attached gingiva, and presence of pretibial plaques. Additional manifestations are easy bruising, hypermobility mainly of the distal joints, skin hyperextensibility and fragility, abnormal scarring, recurrent infections, hernias, marfanoid facial features, acrogeria, and prominent vasculature.","[130080, 617174]",,,,,Periodontal Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:12475,Legacy,GARD,,,,,,,,,,,,GERD,FALSE,FALSE,Retired +GARD:12476,Active,Orphanet,ORPHA:309810,Group of disorders,[Category],"Disorder of peroxisomal alpha-, beta- and omega-oxidation",,,,,,,,"Disorder of peroxisomal alpha-, beta- and omega-oxidation",TRUE,FALSE,Active +GARD:12477,Legacy,GARD,,,,,,,,,,,,Disorders with deficiency of a single peroxisomal enzyme,TRUE,FALSE,Active +GARD:12478,Active,Orphanet,ORPHA:36355,Disorder,[Disease],Bleeding disorder due to P2Y12 defect,[Bleeding disorder due to ADP platelet receptor P2Y12 defect],"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.",[609821],,,,,Bleeding disorder due to P2RY12 defect,TRUE,FALSE,Active +GARD:12479,Legacy,GARD,,,,,,,,,,,,Supernumerary teeth,FALSE,FALSE,Draft +GARD:1248,Active,Orphanet,ORPHA:99946,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2A1,[CMT2A1],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, presenting with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.",[118210],,,,,Charcot-Marie-Tooth disease type 2A,TRUE,FALSE,Active +GARD:12480,Active,Orphanet,ORPHA:96055,Disorder,[Malformation syndrome],Tetrasomy 21,[Isochromosome 21],"Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.",,,,,,Tetrasomy 21,TRUE,FALSE,Active +GARD:12482,Legacy,GARD,,,,,,,,,,,,Hepatic mesenchymal hamartoma,FALSE,FALSE,Draft +GARD:12483,Active,Orphanet,ORPHA:99098,Disorder,[Morphological anomaly],Cor triatriatum dexter,"[Cor triatriatum dextrum, Divided right atrium]","A rare, congenital, non-syndromic, heart malformation characterized by the persistence of the embryonic right valve of the sinus venosus which results in a subdivision of right atrium into two chambers. Clinical manifestations depend on the degree of right atrial septation and the size of sinoatrial orifice and vary from asymptomatic to symptoms of tricuspid valve stenosis, atrial fibrillation, cyanosis, syncope, elevated central venous pressure and right heart failure. The anomaly may be isolated or associated with other congenital heart anomalies.",,,,,,Cor triatriatum dexter,TRUE,FALSE,Active +GARD:12484,Active,Orphanet,ORPHA:99099,Disorder,[Morphological anomaly],Cor triatriatum sinister,"[Cor triatriatum sinistrum, Divided left atrium]","A rare, congenital, non-syndromic, heart malformation characterized by the presence of a thin, fibromuscular membrane subdividing the left atrium into an upper and lower chamber. The upper chamber receives blood from the pulmonary veins and the lower chamber is attached to the left atrial appendage. Therefore, the membrane blocks the orifice of the mitral valve and leads to obstruction of the left ventricular inflow. It may be asymptomatic or present in infancy with tachypnea, dyspnea, hemoptysis, chest pain, syncope, pulmonary edema, pulmonary hypertension, or heart failure, depending on the degree of obstruction. The anomaly may be isolated or associated with other congenital heart anomalies.",,,,,,Cor triatriatum sinister,TRUE,FALSE,Active +GARD:12485,Legacy,GARD,,,,,,,,,,,,Syndrome with corpus callosum agenesis /dysgenesis as a major feature,FALSE,FALSE,Draft +GARD:12486,Active,Orphanet,ORPHA:52055,Disorder,[Malformation syndrome],Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,[Graham-Cox syndrome],"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.",[300472],,,,,Graham-Cox syndrome,TRUE,FALSE,Active +GARD:12487,Active,Orphanet,ORPHA:1495,Disorder,[Malformation syndrome],Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,[Da Silva syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others.",,,,,,Intellectual disability - hypoplastic corpus callosum - preauricular tag,TRUE,FALSE,Active +GARD:12488,Legacy,GARD,,,,,,,,,,,,White matter hypoplasia - corpus callosum agenesis - intellectual disability,FALSE,FALSE,Retired +GARD:12489,Legacy,GARD,,,,,,,,,,,,X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis,TRUE,FALSE,Active +GARD:1249,Active,Orphanet,ORPHA:101101,Disorder,[Disease],Charcot-Marie-Tooth disease type 2B2,"[AR-CMT2B2, Autosomal recessive axonal CMT4C3, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2]","Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.",[605589],,,,,Charcot-Marie-Tooth disease type 2B2,TRUE,FALSE,Active +GARD:12491,Active,Orphanet,ORPHA:452,Disorder,[Malformation syndrome],X-linked lissencephaly with abnormal genitalia,"[X-linked lissencephaly with ambiguous genitalia, X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome, XLAG (X-linked lissencephaly with abnormal genitalia) syndrome]","X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.",[300215],,,,,X-linked lissencephaly with abnormal genitalia,TRUE,FALSE,Active +GARD:12492,Active,Orphanet,ORPHA:261295,Disorder,[Malformation syndrome],20p12.3 microdeletion syndrome,"[Del(20)(p12.3), Monosomy 20p12.3]","20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.",,,,,,20p12.3 microdeletion syndrome,TRUE,FALSE,Active +GARD:12493,Legacy,GARD,,,,,,,,,,,,11p11.2 duplication,FALSE,FALSE,Draft +GARD:12494,Active,Orphanet,ORPHA:178345,Disorder,[Disease],Aromatase excess syndrome,"[AEXS, Familial hyperestrogenism, Hereditary prepubertal gynecomastia]","A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.",[139300],,,,,Aromatase excess syndrome,TRUE,FALSE,Active +GARD:12495,Legacy,GARD,,,,,,,,,,,,ctest,FALSE,FALSE,Retired +GARD:12496,Legacy,GARD,,,,,,,,,,,,gastric fundal diverticulum,FALSE,FALSE,Draft +GARD:12497,Legacy,GARD,,,,,,,,,,,,Follicular mucinosis,FALSE,FALSE,Draft +GARD:12498,Legacy,GARD,,,,,,,,,,,,Pseudohipoparatiroidismo,TRUE,TRUE,Active +GARD:12499,Legacy,GARD,,,,,,,,,,,,Obsessive-compulsive disorder ,FALSE,FALSE,Draft +GARD:125,Active,Orphanet,ORPHA:38,Disorder,[Disease],Acrokeratoelastoidosis of Costa,"[AKE, PPKP3, Punctate palmoplantar hyperkeratosis type 3, Punctate palmoplantar keratoderma type 3]","A rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later",[101850],,,,,Acrokeratoelastoidosis of Costa,TRUE,FALSE,Active +GARD:1250,Active,Orphanet,ORPHA:99937,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2C,[CMT2C],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.",[606071],,,,,Charcot-Marie-Tooth disease type 2C,TRUE,FALSE,Active +GARD:12500,Legacy,GARD,,,,,,,,,,,,Síndrome de Aicardi ,TRUE,TRUE,Active +GARD:12501,Active,Orphanet,ORPHA:391372,Disorder,[Malformation syndrome],Intellectual disability-severe speech delay-mild dysmorphism syndrome,[FOXP1 syndrome],"Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.",[613670],,,,,Intellectual disability-severe speech delay-mild dysmorphism syndrome ,TRUE,FALSE,Active +GARD:12502,Active,Orphanet,ORPHA:171709,Subtype of disorder,[Clinical subtype],Male infertility due to globozoospermia,"[Male infertility due to round-headed spermatozoa, Round-headed sperm syndrome]","Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent.","[102530, 613958]",,,,,Globozoospermia,TRUE,FALSE,Active +GARD:12503,Active,Orphanet,ORPHA:309252,Subtype of disorder,[Clinical subtype],Atypical Gaucher disease due to saposin C deficiency,,,[610539],,,,,Atypical Gaucher disease due to saposin C deficiency,TRUE,FALSE,Active +GARD:12504,Active,Orphanet,ORPHA:2072,Subtype of disorder,[Clinical subtype],Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,"[Cardiovascular Gaucher disease, Gaucher disease type 3C, Gaucher-like disease]","Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.",[231005],,,,,Gaucher disease - ophthalmoplegia - cardiovascular calcification,TRUE,FALSE,Active +GARD:12505,Active,Orphanet,ORPHA:139406,Disorder,[Disease],Encephalopathy due to prosaposin deficiency,[Combined prosaposin deficiency],A lysosomal storage disease belonging to the group of sphingolipidoses.,[611721],,,,,Encephalopathy due to prosaposin deficiency,TRUE,FALSE,Active +GARD:12506,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis,TRUE,TRUE,Active +GARD:12507,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis tipo 1 ,TRUE,TRUE,Active +GARD:12508,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis tipo 2,TRUE,TRUE,Active +GARD:12509,Legacy,GARD,,,,,,,,,,,,Schwannomatosis,TRUE,TRUE,Active +GARD:1251,Active,Orphanet,ORPHA:99938,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2D,[CMT2D],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.",[601472],,,,,Charcot-Marie-Tooth disease type 2D,TRUE,FALSE,Active +GARD:12510,Active,Orphanet,ORPHA:309144,Group of disorders,[Category],Gangliosidosis,,,,,,,,Gangliosidosis,TRUE,FALSE,Active +GARD:12511,Active,Orphanet,ORPHA:79204,Group of disorders,[Category],Lipid storage disease,,,,,,,,Lipid storage disease,TRUE,FALSE,Draft +GARD:12512,Legacy,GARD,,,,,,,,,,,,Male infertility with spermatogenesis disorder,FALSE,FALSE,Draft +GARD:12513,Active,Orphanet,ORPHA:399786,Group of disorders,[Category],Male infertility with spermatogenesis disorder due to single gene mutation,,,,,,,,Male infertility with spermatogenesis disorder due to single gene mutation ,TRUE,FALSE,Active +GARD:12514,Legacy,GARD,,,,,,,,,,,,Male infertility with teratozoospermia due to single gene mutation,FALSE,FALSE,Active +GARD:12515,Legacy,GARD,,,,,,,,,,,,Male infertility with azoospermia or oligozoospermia due to single gene mutation ,FALSE,FALSE,Draft +GARD:12516,Legacy,GARD,,,,,,,,,,,,Pernicious anemias,FALSE,FALSE,Retired +GARD:12517,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos tipo hipermóvil,TRUE,TRUE,Active +GARD:12518,Legacy,GARD,,,,,,,,,,,,Encefalopatía por glicina,TRUE,TRUE,Active +GARD:1252,Active,Orphanet,ORPHA:99948,Disorder,[Disease],Charcot-Marie-Tooth disease type 4A,[CMT4A],"Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.",[214400],,,,,Charcot-Marie-Tooth disease type 4A,TRUE,FALSE,Active +GARD:12521,Active,Orphanet,ORPHA:284264,Group of disorders,[Clinical group],IgG4-related disease,"[IgG4-related sclerosing disease, Immunoglobulin G4-related sclerosing disease]",,,,,,,IgG4-related disease ,TRUE,FALSE,Active +GARD:12522,Legacy,GARD,,,,,,,,,,,,Enterovesical fistula,TRUE,FALSE,Active +GARD:12523,Legacy,GARD,,,,,,,,,,,,Distrofia miotónica tipo 1,TRUE,TRUE,Active +GARD:12524,Active,Orphanet,ORPHA:275543,Disorder,[Malformation syndrome],L1 syndrome,"[CRASH syndrome, Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome, L1CAM syndrome]","A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.","[303350, 307000, 304100]",,,,,L1 syndrome,TRUE,FALSE,Active +GARD:12525,Active,Orphanet,ORPHA:306617,Subtype of disorder,[Clinical subtype],X-linked complicated spastic paraplegia type 1,[SPG1],"A congenital, X-linked, clinical subtype of L1 syndrome, characterized by spastic paraplegia, mild to moderate intellectual disability and normal brain morphology. This subtype represents the milder end of the L1 syndrome spectrum.",,,,,,X-linked complicated spastic paraplegia type 1,TRUE,FALSE,Active +GARD:12526,Active,Orphanet,ORPHA:1497,Subtype of disorder,[Clinical subtype],X-linked complicated corpus callosum dysgenesis,,"A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual disability, and dysplasia, hypoplasia or aplasia of the corpus callosum. In this subtype hydrocephalus, adducted thumbs, or absent speech are not observed.",[304100],,,,,X-linked complicated corpus callosum agenesis,TRUE,FALSE,Active +GARD:12527,Legacy,GARD,,,,,,,,,,,,Limb-girdle muscular dystrophy type 1C,TRUE,FALSE,Active +GARD:12528,Active,Orphanet,ORPHA:34516,Disorder,[Disease],DNAJB6-related limb-girdle muscular dystrophy D1,"[Autosomal dominant limb-girdle muscular dystrophy type 1D, DNAJB6-related LGMD D1, LGMD type 1D, LGMD1D, Limb-girdle muscular dystrophy type 1D]","A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.",[603511],,,,,Limb-girdle muscular dystrophy type 1D,TRUE,FALSE,Active +GARD:12529,Legacy,GARD,,,,,,,,,,,,Limb-girdle muscular dystrophy type 1E,TRUE,FALSE,Active +GARD:1253,Active,Orphanet,ORPHA:99955,Disorder,[Disease],Charcot-Marie-Tooth disease type 4B1,[CMT4B1],"Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).",[601382],,,,,Charcot-Marie-Tooth disease type 4B1,TRUE,FALSE,Active +GARD:12530,Active,Orphanet,ORPHA:55595,Disorder,[Disease],TNP03-related limb-girdle muscular dystrophy D2,"[Autosomal dominant limb-girdle muscular dystrophy type 1F, LGMD type 1F, LGMD1F, Limb-girdle muscular dystrophy type 1F]","A rare subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.",[608423],,,,,Limb-girdle muscular dystrophy type 1F,TRUE,FALSE,Active +GARD:12531,Active,Orphanet,ORPHA:55596,Disorder,[Disease],HNRNPDL-related limb-girdle muscular dystrophy D3,"[Autosomal dominant limb-girdle muscular dystrophy type 1G, HNRNPDL-related LGMD D3, LGMD type 1G, LGMD1G, Limb-girdle muscular dystrophy type 1G]","A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.",[609115],,,,,Limb-girdle muscular dystrophy type 1G,TRUE,FALSE,Active +GARD:12532,Active,Orphanet,ORPHA:238755,Disorder,[Disease],Autosomal dominant limb-girdle muscular dystrophy type 1H,[LGMD1H],"A rare subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.",[613530],,,,,Limb-girdle muscular dystrophy type 1H,TRUE,FALSE,Active +GARD:12533,Active,Orphanet,ORPHA:34515,Disorder,[Disease],FKRP-related limb-girdle muscular dystrophy R9,"[Autosomal recessive limb-girdle muscular dystrophy type 2I, FKRP-related LGMD R9, LGMD due to FKRP deficiency, LGMD type 2I, LGMD2I, Limb-girdle muscular dystrophy due to FKRP deficiency, Limb-girdle muscular dystrophy type 2I]","A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels.",[607155],,,,,Limb-girdle muscular dystrophy type 2I,TRUE,FALSE,Active +GARD:12534,Active,Orphanet,ORPHA:140922,Disorder,[Disease],Titin-related limb-girdle muscular dystrophy R10,"[Autosomal recessive limb-girdle muscular dystrophy type 2J, LGMD type 2J, LGMD2J, Limb-girdle muscular dystrophy type 2J, Titin-related LGMD R10]","A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.",[608807],,,,,Limb-girdle muscular dystrophy type 2J,TRUE,FALSE,Active +GARD:12535,Active,Orphanet,ORPHA:86812,Disorder,[Disease],POMT1-related limb-girdle muscular dystrophy R11,"[Autosomal recessive limb-girdle muscular dystrophy type 2K, LGMD type 2K, LGMD2K, Limb-girdle muscular dystrophy type 2K, Limb-girdle muscular dystrophy-intellectual disability syndrome, POMT1-related LGMD R11]","A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.",[609308],,,,,Limb-girdle muscular dystrophy type 2K,TRUE,FALSE,Active +GARD:12536,Active,Orphanet,ORPHA:206549,Disorder,[Disease],Anoctamin-5-related limb-girdle muscular dystrophy R12,"[Anoctamin-5-related LGMD R12, Autosomal recessive limb-girdle muscular dystrophy type 2L, LGMD type 2L, LGMD2L, Limb-girdle muscular dystrophy type 2L]","A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.",[611307],,,,,Limb-girdle muscular dystrophy type 2L,TRUE,FALSE,Active +GARD:12537,Legacy,GARD,,,,,,,,,,,,Fistula enterovesical ,TRUE,TRUE,Active +GARD:12538,Active,Orphanet,ORPHA:206554,Disorder,[Disease],Fukutin-related limb-girdle muscular dystrophy R13,"[Autosomal recessive LGMD type 2M, Autosomal recessive limb-girdle muscular dystrophy type 2M, Fukutin-related LGMD R13, LGMD type 2M, LGMD2M]","A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.",[611588],,,,,Limb-girdle muscular dystrophy type 2M,TRUE,FALSE,Active +GARD:12539,Active,Orphanet,ORPHA:206559,Disorder,[Disease],POMT2-related limb-girdle muscular dystrophy R14,"[Autosomal recessive limb-girdle muscular dystrophy type 2N, LGMD type 2N, LGMD2N, Limb-girdle muscular dystrophy type 2N, POMT2-related LGMD R14]","A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).",[613158],,,,,Limb-girdle muscular dystrophy type 2N,TRUE,FALSE,Active +GARD:1254,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease dominant intermediate 1,TRUE,FALSE,Retired +GARD:12540,Active,Orphanet,ORPHA:206564,Disorder,[Disease],POMGNT1-related limb-girdle muscular dystrophy R15,"[Autosomal recessive limb-girdle muscular dystrophy type 2O, LGMD type 2O, LGMD2O, Limb-girdle muscular dystrophy type 2O, POMGNT1-related LGMD R15]","A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.",[613157],,,,,Limb-girdle muscular dystrophy type 2O,TRUE,FALSE,Active +GARD:12541,Active,Orphanet,ORPHA:280333,Disorder,[Disease],Alpha-dystroglycan-related limb-girdle muscular dystrophy R16,"[Alpha-dystroglycan-related LGMD R16, Autosomal recessive limb-girdle muscular dystrophy type 2P, LGMD type 2P, LGMD2P, Limb-girdle muscular dystrophy type 2P]","A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.",[613818],,,,,Limb-girdle muscular dystrophy type 2P,TRUE,FALSE,Active +GARD:12542,Active,Orphanet,ORPHA:254361,Disorder,[Disease],Plectin-related limb-girdle muscular dystrophy R17,"[Autosomal recessive limb-girdle muscular dystrophy type 2Q, LGMD type 2Q, LGMD2Q, Limb-girdle muscular dystrophy type 2Q, Plectin-related LGMD R17]",A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.,[613723],,,,,Limb-girdle muscular dystrophy type 2Q ,TRUE,FALSE,Active +GARD:12543,Active,Orphanet,ORPHA:369840,Disorder,[Disease],TRAPPC11-related limb-girdle muscular dystrophy R18,"[Autosomal recessive limb-girdle muscular dystrophy type 2S, LGMD type 2S, LGMD2S, Limb-girdle muscular dystrophy type 2S, TRAPPC11-related LGMD R18]","A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.",[615356],,,,,Limb-girdle muscular dystrophy type 2S,TRUE,FALSE,Active +GARD:12544,Active,Orphanet,ORPHA:363623,Disorder,[Disease],GMPPB-related limb-girdle muscular dystrophy R19,"[Autosomal recessive limb-girdle muscular dystrophy type 2T, GMPPB-related LGMD R19, LGMD type 2T, LGMD2T, Limb-girdle muscular dystrophy type 2T]","A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.",[615352],,,,,Limb-girdle muscular dystrophy type 2T,TRUE,FALSE,Active +GARD:12545,Legacy,GARD,,,,,,,,,,,,Ocular albinism,FALSE,FALSE,Draft +GARD:12546,Legacy,GARD,,,,,,,,,,,,Influenza,FALSE,FALSE,Draft +GARD:12547,Active,Orphanet,ORPHA:331235,Disorder,[Disease],Selective IgM deficiency,[Selective immunoglobulin M deficiency],"A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased.",,,,,,Selective IgM deficiency,TRUE,FALSE,Active +GARD:12548,Legacy,GARD,,,,,,,,,,,,Mucolipidosis,FALSE,FALSE,Draft +GARD:12549,Legacy,GARD,,,,,,,,,,,,Convergence insufficiency,FALSE,FALSE,Draft +GARD:1255,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease neuronal type A,TRUE,FALSE,Retired +GARD:12550,Active,Orphanet,ORPHA:289465,Disorder,[Disease],Isolated congenital adermatoglyphia,"[Congenital absence of fingerprints, Immigration delay disease]","Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.",[136000],,,,,Adermatoglyphia,TRUE,FALSE,Active +GARD:12551,Active,Orphanet,ORPHA:238722,Disorder,[Disease],Familial congenital mirror movements,"[Familial congenital controlateral synkinesia, Hereditary congenital controlateral synkinesia, Hereditary congenital mirror movements, Isolated congenital controlateral synkinesia, Isolated congenital mirror movements]","A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities.","[618264, 614508, 157600, 616059]",,,,,Congenital mirror movement disorder,TRUE,FALSE,Active +GARD:12552,Legacy,GARD,,,,,,,,,,,,Spinal Cord Injury,FALSE,FALSE,Draft +GARD:12554,Legacy,GARD,,,,,,,,,,,,Síndrome cardio-facio-cutáneo ,TRUE,TRUE,Active +GARD:12555,Legacy,GARD,,,,,,,,,,,,Colon cancer,FALSE,FALSE,Draft +GARD:12556,Active,Orphanet,ORPHA:631,Disorder,[Disease],Non-acquired isolated growth hormone deficiency,"[Congenital IGHD, Congenital isolated GH deficiency, Congenital isolated growth hormone deficiency]","A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature.","[300123, 612781, 262650, 173100, 262400, 307200]",,,,,Isolated growth hormone deficiency,TRUE,FALSE,Active +GARD:12557,Legacy,GARD,,,,,,,,,,,,Déficit de la hormona de crecimiento,TRUE,TRUE,Active +GARD:12558,Active,Orphanet+OMIM,OMIM:612621,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 5","[Mental retardation, autosomal dominant 5]","Intellectual developmental disorder-5 (MRD5) is characterized by moderately to severely impaired intellectual development with delayed psychomotor development apparent in the first years of life. Most patients develop variable types of seizures, some have autism or autism spectrum disorder (see {209850}), and some have acquired microcephaly (summary by {1:Berryer et al., 2013}).",[612621],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,SYNGAP1-related non-syndromic intellectual disability,TRUE,FALSE,Active +GARD:12559,Active,Orphanet,ORPHA:93473,Subtype of disorder,[Clinical subtype],Hurler syndrome,"[Hurler disease, MPS1H, MPSIH, Mucopolysaccharidosis type 1H, Mucopolysaccharidosis type IH]","Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.",[607014],,,,,Hurler syndrome,TRUE,FALSE,Active +GARD:1256,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease neuronal type B,TRUE,FALSE,Retired +GARD:12560,Active,Orphanet,ORPHA:93476,Subtype of disorder,[Clinical subtype],Hurler-Scheie syndrome,"[MPS1H/S, MPSIH/S, Mucopolysaccharidosis type 1H/S, Mucopolysaccharidosis type IH/S]","Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.",[607015],,,,,Hurler–Scheie syndrome ,TRUE,FALSE,Active +GARD:12561,Active,Orphanet,ORPHA:93474,Subtype of disorder,[Clinical subtype],Scheie syndrome,"[MPS1S, MPSIS, Mucopolysaccharidosis type 1S, Mucopolysaccharidosis type IS]","Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.",[607016],,,,,Scheie syndrome ,TRUE,FALSE,Active +GARD:12562,Active,Orphanet,ORPHA:582,Disorder,[Disease],Mucopolysaccharidosis type 4,"[MPS4, MPSIV, Morquio disease, Mucopolysaccharidosis type IV]","A rare lysosomal storage disease characterized by mild to severe spondylo-epiphyso-metaphyseal dysplasia, manifesting with disproportionate short stature (short neck and trunk), joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities (kyphosis and scoliosis), respiratory impairment and valvular heart disease.","[252300, 253000, 253010]",,,,,Mucopolysaccharidosis type IV,TRUE,FALSE,Active +GARD:12563,Legacy,GARD,,,,,,,,,,,,Lymphedema,FALSE,FALSE,Active +GARD:12564,Legacy,GARD,,,,,,,,,,,,Testicular sex cord stromal tumor,FALSE,FALSE,Draft +GARD:12565,Legacy,GARD,,,,,,,,,,,,Hyperhidrosis,FALSE,FALSE,Draft +GARD:12566,Legacy,GARD,,,,,,,,,,,,Hiatal hernia,FALSE,FALSE,Draft +GARD:12567,Active,Orphanet,ORPHA:329303,Group of disorders,[Clinical group],PLA2G6-associated neurodegeneration,[PLAN],,,,,,,PLA2G6-associated neurodegeneration,TRUE,FALSE,Retired +GARD:12568,Active,Orphanet,ORPHA:199351,Disorder,[Disease],Adult-onset dystonia-parkinsonism,"[Dystonia-parkinsonism, Paisan-Ruiz type, PARK14, PLA2G6-related dystonia-parkinsonism]","A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.",[612953],,,,,NBIA/DYT/PARK-PLA2G6,TRUE,FALSE,Active +GARD:12569,Active,Orphanet,ORPHA:289560,Disorder,[Disease],Mitochondrial membrane protein-associated neurodegeneration,"[MPAN, NBIA due to C19orf12 mutation, NBIA4, Neurodegeneration with brain iron accumulation due to C19orf12 mutation, Neurodegeneration with brain iron accumulation type 4]","A rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.",[614298],,,,,Mitochondrial Membrane Protein-Associated Neurodegeneration ,TRUE,FALSE,Active +GARD:1257,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease neuronal type D,TRUE,FALSE,Retired +GARD:12570,Active,Orphanet,ORPHA:329284,Disorder,[Disease],Beta-propeller protein-associated neurodegeneration,"[BPAN, NBIA5, Neurodegeneration with brain iron accumulation type 5, SENDA, Static encephalopathy of childhood with neurodegeneration in adulthood]","Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.",[300894],,,,,Beta-Propeller Protein-Associated Neurodegeneration ,TRUE,FALSE,Active +GARD:12571,Active,Orphanet,ORPHA:397725,Disorder,[Disease],COASY protein-associated neurodegeneration,"[CoPAN, NBIA6, Neurodegeneration with brain iron accumulation due to COASY mutation]","COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.",[615643],,,,,COASY Protein-Associated Neurodegeneration ,TRUE,FALSE,Active +GARD:12572,Legacy,GARD,,,,,,,,,,,,Gamapatía monoclonal de significado incierto ,TRUE,TRUE,Active +GARD:1258,Active,Orphanet,ORPHA:101075,Disorder,[Disease],X-linked Charcot-Marie-Tooth disease type 1,"[CMT1X, CMTX1]","X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.",[302800],,,,,X-linked Charcot-Marie-Tooth disease type 1,TRUE,FALSE,Active +GARD:12583,Legacy,GARD,,,,,,,,,,,,Progressive muscular dystrophy,FALSE,FALSE,Draft +GARD:12584,Active,Orphanet,ORPHA:370953,Group of disorders,[Category],Congenital muscular dystrophy due to dystroglycanopathy,[CMD due to dystroglycanopathy],,,,,,,Congenital muscular dystrophy due to dystroglycanopathy ,TRUE,FALSE,Active +GARD:12585,Active,Orphanet,ORPHA:157973,Disorder,[Disease],Congenital muscular dystrophy due to LMNA mutation,"[L-CMD, LMNA-related congenital muscular dystrophy]","A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported.",[613205],,,,,Congenital muscular dystrophy due to LMNA mutation,TRUE,FALSE,Active +GARD:12586,Active,Orphanet,ORPHA:98893,Disorder,[Disease],Congenital muscular dystrophy type 1B,"[CMD1B, MDC1B]","Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.",[604801],,,,,Congenital muscular dystrophy type 1B,TRUE,FALSE,Draft +GARD:12587,Active,Orphanet,ORPHA:34520,Disorder,[Disease],Congenital muscular dystrophy with integrin alpha-7 deficiency,[Congenital muscular dystrophy with ITGA7 deficiency],"Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.",[613204],,,,,Congenital muscular dystrophy with integrin alpha-7 deficiency,TRUE,FALSE,Active +GARD:12588,Active,Orphanet,ORPHA:352687,Group of disorders,[Clinical group],Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies,"[Lissencephaly type 2 with muscular and ocular involvement, MDDGA]","Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.",,,,,,Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies,TRUE,FALSE,Active +GARD:12589,Legacy,GARD,,,,,,,,,,,,Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B),TRUE,FALSE,Active +GARD:12590,Active,Orphanet,ORPHA:45358,Disorder,[Disease],Congenital fibrosis of extraocular muscles,[FEOM],"A rare syndromic disorder with strabismus characterized by congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities, among others.","[609384, 602078, 609612, 135700, 600638, 609428]",,,,,Congenital fibrosis of extraocular muscles,TRUE,FALSE,Active +GARD:12591,Active,Orphanet,ORPHA:178464,Disorder,[Disease],Hereditary myopathy with early respiratory failure,"[Edström Myopathy, HIBM-ERF, HMERF, Hereditary inclusion body myopathy with early respiratory failure, MFM-titinopathy, Myofibrillar myopathy with early respiratory failure, Myofibrillar myopathy-titinopathy]","A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles.",[603689],,,,,Hereditary proximal myopathy with early respiratory failure,TRUE,FALSE,Active +GARD:12592,Active,Orphanet,ORPHA:98897,Disorder,[Disease],Oculopharyngodistal myopathy,"[OPDM, Oculopharyngeal distal myopathy]","A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.","[164310, 618940]",,,,,Oculopharyngodistal myopathy,TRUE,FALSE,Active +GARD:12593,Legacy,GARD,,,,,,,,,,,,Déficit aislado de hormona de crecimiento,TRUE,TRUE,Active +GARD:12594,Legacy,GARD,,,,,,,,,,,,Congenital hemifacial hyperplasia,FALSE,FALSE,Draft +GARD:12595,Legacy,GARD,,,,,,,,,,,,Retinopatía de la prematuridad ,TRUE,TRUE,Active +GARD:12596,Active,Orphanet,ORPHA:90970,Group of disorders,[Category],Primary lipodystrophy,,A heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy).,,,,,,Primary lipodystrophy ,TRUE,FALSE,Draft +GARD:12597,Active,Orphanet,ORPHA:98305,Group of disorders,[Category],Genetic lipodystrophy,,,,,,,,Genetic lipodystrophy,TRUE,FALSE,Retired +GARD:12598,Active,Orphanet,ORPHA:79084,Disorder,[Disease],"Familial partial lipodystrophy, Köbberling type","[FPLD1, Familial partial lipodystrophy type 1]","Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.",[608600],,,,,Familial partial lipodystrophy type Köbberling,TRUE,FALSE,Active +GARD:12599,Active,Orphanet,ORPHA:79085,Disorder,[Disease],AKT2-related familial partial lipodystrophy,[AKT2-related FPLD],"A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.",,,,,,Familial partial lipodystrophy due to AKT2 mutations,TRUE,FALSE,Active +GARD:12600,Active,Orphanet,ORPHA:79083,Disorder,[Disease],PPARG-related familial partial lipodystrophy,"[FPLD3, Familial partial lipodystrophy type 3, PPARG-related FPLD]","A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.",[604367],,,,,Familial partial lipodystrophy associated with PPARG mutations,TRUE,FALSE,Active +GARD:12601,Active,Orphanet,ORPHA:280356,Disorder,[Disease],PLIN1-related familial partial lipodystrophy,"[FPLD4, PLIN1-related FPLD]","A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.",[613877],,,,,Familial partial lipodystrophy associated with PLIN1 mutations,TRUE,FALSE,Active +GARD:12602,Active,Orphanet,ORPHA:98307,Group of disorders,[Category],Acquired lipodystrophy,,,,,,,,Acquired lipodystrophy ,TRUE,FALSE,Draft +GARD:12603,Active,Orphanet,ORPHA:79086,Disorder,[Disease],Acquired generalized lipodystrophy,"[Acquired lipoatrophic diabetes, Lawrence syndrome, Lawrence-Seip syndrome]","A rare lipodystrophic syndrome characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).",,,,,,Acquired generalized lipodystrophy,TRUE,FALSE,Active +GARD:12604,Active,Orphanet,ORPHA:1979,Disorder,[Disease],Lipodystrophy due to peptidic growth factors deficiency,"[Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency, Hoepffner-Dreyer-Reimers syndrome, Werner-like syndrome due to combined growth factor deficiency]","A rare genetic lipodystrophy characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus.",[233805],,,,,Lipodystrophy due to peptidic growth factors deficiency,TRUE,FALSE,Retired +GARD:12605,Legacy,GARD,,,,,,,,,,,,Vesicoureteral reflux,FALSE,FALSE,Draft +GARD:12606,Legacy,GARD,,,,,,,,,,,,Out of Scope,FALSE,FALSE,Internal +GARD:12608,Legacy,GARD,,,,,,,,,,,,Genetic diseases,FALSE,FALSE,Internal +GARD:12609,Legacy,GARD,,,,,,,,,,,,Distrofia muscular ,TRUE,TRUE,Active +GARD:1261,Active,Orphanet,ORPHA:1406,Disorder,[Malformation syndrome],Charlie M syndrome,,"Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.",,,,,,Charlie M syndrome,TRUE,FALSE,Active +GARD:12610,Active,Orphanet,ORPHA:157965,Subtype of disorder,[Clinical subtype],SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,"[SCD-EDS, SLC39A13-related spEDS, SLC39A13-related spondylodysplastic EDS, Spondylocheirodysplastic Ehlers-Danlos syndrome, spEDS-SLC39A13]","A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature.",[612350],,,,,"Ehlers-Danlos syndrome, spondylocheirodysplastic type",TRUE,FALSE,Retired +GARD:12611,Legacy,GARD,,,,,,,,,,,,Síndrome de Glass-Chapman-Hockley,TRUE,TRUE,Active +GARD:12612,Legacy,GARD,,,,,,,,,,,,Síndrome de Haim-Munk,TRUE,TRUE,Active +GARD:12613,Active,Orphanet,ORPHA:230851,Disorder,[Disease],Cardiac-valvular Ehlers-Danlos syndrome,"[Cardiac-valvular EDS, cvEDS]","A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.",[225320],,,,,Cardiac-Valvular Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:12614,Legacy,GARD,,,,,,,,,,,,Queratodermia palmoplantar,TRUE,TRUE,Active +GARD:12615,Legacy,GARD,,,,,,,,,,,,Síndrome de Papillon-Lefèvre,TRUE,TRUE,Active +GARD:12616,Legacy,GARD,,,,,,,,,,,,Hypophosphatemia,FALSE,FALSE,Draft +GARD:12617,Legacy,GARD,,,,,,,,,,,,Leber's Hereditary Optic Neuropathy,FALSE,FALSE,Draft +GARD:12618,Legacy,GARD,,,,,,,,,,,,Venous angioma,FALSE,FALSE,Draft +GARD:12619,Legacy,GARD,,,,,,,,,,,,Arrhythmia syndrome,FALSE,FALSE,Draft +GARD:12620,Legacy,GARD,,,,,,,,,,,,Branch Retinal Artery Occlusion,FALSE,FALSE,Draft +GARD:12621,Active,Orphanet,ORPHA:369955,Subtype of disorder,[Clinical subtype],"Methylmalonic acidemia with homocystinuria, type cblJ","[CblJ defects, Cobalamin J defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ, Methylmalonic aciduria with homocystinuria, type cblJ]",,[614857],,,,,Methylmalonic acidemia with homocystinuria type cblJ,TRUE,FALSE,Active +GARD:12622,Legacy,GARD,,,,,,,,,,,,Disorders of Intracellular Cobalamin Metabolism,TRUE,FALSE,Draft +GARD:12623,Active,Orphanet,ORPHA:28,Disorder,[Disease],Vitamin B12-responsive methylmalonic acidemia,"[Adenosylcobalamin deficiency, Vitamin B12-responsive methylmalonic aciduria]","An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).","[251110, 277410, 251100]",,,,,Adenosylcobalamin deficiency,TRUE,FALSE,Active +GARD:12624,Legacy,GARD,,,,,,,,,,,,Juvenile xanthogranuloma,FALSE,FALSE,Draft +GARD:12625,Legacy,GARD,,,,,,,,,,,,Chelitis,FALSE,FALSE,Draft +GARD:12627,Legacy,GARD,,,,,,,,,,,,Leucodistrofia metacromática,TRUE,TRUE,Active +GARD:12629,Legacy,GARD,,,,,,,,,,,,Rathke's cleft cyst,FALSE,FALSE,Draft +GARD:12630,Legacy,GARD,,,,,,,,,,,,NOG-related symphalangism spectrum disorder,FALSE,FALSE,Draft +GARD:12631,Active,Orphanet,ORPHA:140917,Disorder,[Malformation syndrome],Stapes ankylosis with broad thumbs and toes,[Teunissen-Cremers syndrome],"Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.",[184460],,,,,Stapes ankylosis with broad thumbs and toes,TRUE,FALSE,Draft +GARD:12632,Active,Orphanet,ORPHA:289573,Group of disorders,[Clinical group],Multiple mitochondrial dysfunctions syndrome,,"Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.",,,,,,Multiple mitochondrial dysfunctions syndrome,TRUE,FALSE,Active +GARD:12633,Legacy,GARD,,,,,,,,,,,,Rare intellectual disability without developmental anomaly,TRUE,FALSE,Active +GARD:12634,Legacy,GARD,,,,,,,,,,,,Acute alcohol sensitivity ,TRUE,FALSE,Active +GARD:12635,Active,Orphanet,ORPHA:2377,Disorder,[Malformation syndrome],Laurence-Moon syndrome,,"A very rare genetic multisystemic disorder characterized by progressive neurological, ophthalmologic and endocrine manifestations leading to severe handicap.",[245800],,,,,Laurence-Moon syndrome,TRUE,FALSE,Active +GARD:12636,Legacy,GARD,,,,,,,,,,,,Laurence Moon syndrome,FALSE,FALSE,Retired +GARD:12637,Legacy,GARD,,,,,,,,,,,,Basilar invagination,FALSE,FALSE,Draft +GARD:12638,Active,Orphanet,ORPHA:183713,Disorder,[Disease],Bacterial susceptibility due to TLR signaling pathway deficiency,,"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.",[612260],,,,,MYD88 deficiency,TRUE,FALSE,Active +GARD:12639,Legacy,GARD,,,,,,,,,,,,Warfarin sensitivity,TRUE,FALSE,Active +GARD:12640,Active,Orphanet,ORPHA:306542,Disorder,[Malformation syndrome],Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,"[ALX1-related frontonasal dysplasia, Frontonasal dysplasia type 3]","Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.",[613456],,,,,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ,TRUE,FALSE,Active +GARD:12641,Active,Orphanet,ORPHA:228390,Disorder,[Malformation syndrome],Frontonasal dysplasia-alopecia-genital anomalies syndrome,"[ALX4-related FNDAG, Craniofrontonasal dysplasia with alopecia and hypogonadism, Frontonasal dysplasia type 2, Frontonasal dysplasia with alopecia and genital abnomality]","A rare syndromic frontonasal dysplasia characterized by frontonasal dysplasia associated with total alopecia, hypogonadism and mild to moderate intellectual disability. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip.",[613451],,,,,Frontonasal dysplasia with alopecia and genital anomaly,TRUE,FALSE,Active +GARD:12642,Active,Orphanet,ORPHA:391474,Disorder,[Malformation syndrome],Frontorhiny,"[ALX3-related frontonasal dysplasia, Frontonasal dysplasia type 1, Isolated median cleft face syndrome]","Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.",[136760],,,,,Frontorhiny,TRUE,FALSE,Active +GARD:12643,Active,Orphanet,ORPHA:294965,Group of disorders,[Clinical group],Lethal congenital contracture syndrome,[LCCS],"A group of rare arthrogryposis syndromes characterized by fetal akinesia, multiple congenital contractures, anterior horn cell degeneration, skeletal muscle atrophy, and other features, depending on the subtype. All types are lethal in the fetal or neonatal period.",,,,,,Lethal congenital contracture syndrome ,TRUE,FALSE,Active +GARD:12644,Active,Orphanet,ORPHA:137783,Disorder,[Malformation syndrome],Lethal congenital contracture syndrome type 3,[LCCS3],"Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.","[614915, 611369]",,,,,Lethal congenital contracture syndrome 3,TRUE,FALSE,Active +GARD:12645,Active,Orphanet+OMIM,OMIM:614915,Subtype of disorder,[Malformation syndrome subtype],Lethal congenital contracture syndrome 4,,,[614915],[137783],[Lethal congenital contracture syndrome type 3],[12644],,Lethal congenital contracture syndrome 4,TRUE,FALSE,Active +GARD:12646,Legacy,GARD,,,,,,,,,,,,Filariasis,FALSE,FALSE,Draft +GARD:12647,Legacy,GARD,,,,,,,,,,,,Herpes simplex virus,FALSE,FALSE,Draft +GARD:12648,Active,Orphanet,ORPHA:91489,Disorder,[Morphological anomaly],Isolated congenital megalocornea,[Congenital anterior megalophthalmia],"Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.",[309300],,,,,Isolated congenital megalocornea,TRUE,FALSE,Active +GARD:12649,Legacy,GARD,,,,,,,,,,,,Malignant melanoma of the mucosa,FALSE,FALSE,Active +GARD:1265,Legacy,GARD,,,,,,,,,,,,Abdominal chemodectomas with cutaneous angiolipomas,TRUE,FALSE,Active +GARD:12650,Active,Orphanet,ORPHA:68,Disorder,[Disease],Amoebiasis due to free-living amoebae,,"A rare parasitic disease caused by free-living amoebae belonging to the Acanthamoeba, Naegleria and Balamuthia genera, that are able to survive in an autonomous state in all natural environments and can also parasitize humans. In immunosuppressed individuals Acanthamoeba genus contamination leads to granulomatous amoebic encephalitis (also reported in association with species of the Balamuthia genus) together with other problems including cardiac, cutaneous and pulmonary manifestations, all of which influence the prognosis. In immunocompetent individuals, the Naegleria fowleri species is responsible for primary amoebic meningoencephalitis, the evolution of which is rapidly fatal.",,,,,,Amoebiasis due to free-living amoebae,TRUE,FALSE,Active +GARD:12651,Legacy,GARD,,,,,,,,,,,,Granulomatous Amebic Encephalitis,TRUE,FALSE,Active +GARD:12652,Active,Orphanet,ORPHA:137898,Disorder,[Disease],Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,"[LBSL, Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome]","This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.",[611105],,,,,Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ,TRUE,FALSE,Active +GARD:12653,Active,Orphanet,ORPHA:447737,Disorder,[Disease],DOCK2 deficiency,,"A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases.",[616433],,,,,DOCK2 Deficiency,TRUE,FALSE,Active +GARD:12654,Legacy,GARD,,,,,,,,,,,,Baylisascaris infection ,TRUE,FALSE,Active +GARD:12655,Legacy,GARD,,,,,,,,,,,,Meningitis,FALSE,FALSE,Draft +GARD:12656,Active,Orphanet,ORPHA:160,Disorder,[Disease],Castleman disease,"[Angiofollicular ganglionic hyperplasia, Angiofollicular lymph hyperplasia]","A benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.",[148000],,,,,Castleman disease,TRUE,FALSE,Active +GARD:12657,Legacy,GARD,,,,,,,,,,,,Mucinous breast cancer,FALSE,FALSE,Draft +GARD:12658,Legacy,GARD,,,,,,,,,,,,Thornwaldt cyst,FALSE,FALSE,Draft +GARD:12659,Legacy,GARD,,,,,,,,,,,,Chromosome 9 Partial Trisomy,FALSE,FALSE,Draft +GARD:1266,Legacy,GARD,,,,,,,,,,,,Ho Kaufman Mcalister syndrome,TRUE,FALSE,Active +GARD:12660,Legacy,GARD,,,,,,,,,,,,Arteriovenous malformation,FALSE,FALSE,Draft +GARD:12661,Legacy,GARD,,,,,,,,,,,,Arteriovenous fistula,FALSE,FALSE,Draft +GARD:12662,Active,Orphanet,ORPHA:141189,Group of disorders,[Clinical group],Cerebrofacial arteriovenous metameric syndrome,[CAMS],"A group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions, with cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (medial prosencephalic group) involving the hypothalamus and nasal region, Wyburn-Mason syndrome (lateral prosencephalic group) involving the occipital lobe, thalamus, and maxilla, and CAMS 3 (lateral rhombencephalic group) involving the cerebellum, pons, and mandible.",,,,,,Cerebrofacial arteriovenous metameric syndrome,TRUE,FALSE,Draft +GARD:12663,Active,Orphanet,ORPHA:156230,Group of disorders,[Clinical group],Facial arteriovenous malformation,,"Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.",,,,,,Facial arteriovenous malformation,TRUE,FALSE,Active +GARD:12664,Active,Orphanet,ORPHA:95699,Disorder,[Disease],Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,"[Congenital adrenal hyperplasia due to cytochrome POR deficiency, POR deficiency, PORD]","A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.",[613571],,,,,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,TRUE,FALSE,Active +GARD:12665,Active,Orphanet,ORPHA:90794,Disorder,[Disease],Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,[Classic 21-OHD CAH],"A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenia.",[201910],,,,,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,TRUE,FALSE,Active +GARD:12666,Legacy,GARD,,,,,,,,,,,,Anemia aplásica ,TRUE,TRUE,Active +GARD:12667,Legacy,GARD,,,,,,,,,,,,Síndrome óculo-cerebro-renal,TRUE,TRUE,Active +GARD:12668,Legacy,GARD,,,,,,,,,,,,Siringomielia,TRUE,TRUE,Active +GARD:12669,Active,Orphanet,ORPHA:163937,Disorder,[Disease],"X-linked intellectual disability, Najm type","[MICPCH, X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome]","Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.",[300749],,,,,"X-linked intellectual disability, Najm type",TRUE,FALSE,Active +GARD:12670,Legacy,GARD,,,,,,,,,,,,CASK-Related Disorders,TRUE,FALSE,Active +GARD:12671,Legacy,GARD,,,,,,,,,,,,Pernicious anemia,FALSE,FALSE,Active +GARD:12672,Legacy,GARD,,,,,,,,,,,,Asociación VACTERL,TRUE,TRUE,Active +GARD:12673,Active,Orphanet,ORPHA:254395,Disorder,[Disease],Actinic lichen planus,"[Actinic LP, Lichen planus actinus, Lichen planus subtropicus, Lichen planus tropicus, Lichenoid melanodermatitis, Summertime actinic lichenoid eruption]",A rare cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.,,,,,,Actinic lichen planus,TRUE,FALSE,Active +GARD:12674,Active,Orphanet,ORPHA:254424,Disorder,[Disease],Annular lichen planus,[Annular LP],A rare variant of cutaneous lichen planus characterized by the development of annular lesions.,,,,,,Annular lichen planus,TRUE,FALSE,Active +GARD:12675,Active,Orphanet,ORPHA:254449,Disorder,[Disease],Atrophic lichen planus,[Atrophic LP],A rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.,,,,,,Atrophic lichen planus,TRUE,FALSE,Active +GARD:12676,Active,Orphanet,ORPHA:254411,Disorder,[Disease],Annular atrophic lichen planus,[Annular atrophic LP],A rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.,,,,,,Annular atrophic lichen planus,TRUE,FALSE,Active +GARD:12677,Active,Orphanet,ORPHA:254478,Disorder,[Disease],Lichen planus pemphigoides,[LP pemphigoides],Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid (see these terms).,,,,,,Lichen planus pemphigoides,TRUE,FALSE,Active +GARD:12678,Active,Orphanet,ORPHA:401859,Disorder,[Disease],Lipoic acid synthetase deficiency,,"Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.",[614462],,,,,Lipoic acid synthetase deficiency,TRUE,FALSE,Active +GARD:12679,Active,Orphanet,ORPHA:401854,Group of disorders,[Category],Lipoic acid biosynthesis defect,[Lipoate biosynthesis defect],,,,,,,Lipoic acid biosynthesis defects,TRUE,FALSE,Active +GARD:12680,Active,Orphanet,ORPHA:401862,Disorder,[Disease],Lipoyl transferase 1 deficiency,,"Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.",[616299],,,,,Lipoyl transferase 1 deficiency,TRUE,FALSE,Draft +GARD:12681,Active,Orphanet,ORPHA:401866,Disorder,[Disease],Childhood-onset spasticity with hyperglycinemia,"[Childhood-onset spasticity with variant non-ketotic hyperglycinemia, Spasticity-ataxia-gait anomalies syndrome]","Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.",[616859],,,,,Spasticity-ataxia-gait anomalies syndrome,TRUE,FALSE,Draft +GARD:12682,Active,Orphanet,ORPHA:2744,Disorder,[Disease],Horizontal gaze palsy with progressive scoliosis,"[HGPPS, Progressive external ophthalmoplegia and scoliosis]","Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.","[607313, 617542]",,,,,Horizontal gaze palsy with progressive scoliosis,TRUE,FALSE,Active +GARD:12683,Active,Orphanet,ORPHA:53739,Group of disorders,[Clinical group],Distal hereditary motor neuropathy,"[Distal spinal muscular atrophy, dHMN, dSMA]",,,,,,,Distal hereditary motor neuropathy,TRUE,FALSE,Active +GARD:12684,Active,Orphanet,ORPHA:391384,Disorder,[Disease],Familial episodic pain syndrome,[FEPS],"Familial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.","[615552, 615040]",,,,,Familial episodic pain syndrome,TRUE,FALSE,Active +GARD:12685,Legacy,GARD,,,,,,,,,,,,Hereditary motor and sensory neuropathy,TRUE,FALSE,Active +GARD:12686,Active,Orphanet,ORPHA:79456,Disorder,[Disease],Diffuse cutaneous mastocytosis,"[DCM, Diffuse cutaneous maculopapulous mastocytosis]","Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term).",,,,,,Diffuse cutaneous mastocytosis,TRUE,FALSE,Active +GARD:12687,Active,Orphanet,ORPHA:79455,Disorder,[Disease],Cutaneous mastocytoma,"[Cutaneous local mastocytoma, Multiple mastocytoma, Solitary mastocytoma]","Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.",,,,,,Cutaneous mastocytoma,TRUE,FALSE,Active +GARD:12688,Active,Orphanet,ORPHA:140471,Group of disorders,[Clinical group],Hereditary sensory and autonomic neuropathy,[HSAN],,,,,,,Hereditary sensory and autonomic neuropathy,TRUE,FALSE,Active +GARD:12689,Legacy,GARD,,,,,,,,,,,,Varicocele ,FALSE,FALSE,Draft +GARD:12690,Legacy,GARD,,,,,,,,,,,,Antithrombin deficiency,TRUE,FALSE,Retired +GARD:12691,Legacy,GARD,,,,,,,,,,,,Kashin–Beck disease,FALSE,FALSE,Draft +GARD:12692,Legacy,GARD,,,,,,,,,,,,Unspecified thrombocytopenia,FALSE,FALSE,Draft +GARD:12693,Legacy,GARD,,,,,,,,,,,,Chromosome 22 deletion,FALSE,FALSE,Draft +GARD:12694,Legacy,GARD,,,,,,,,,,,,Rectal leiomyoma,FALSE,FALSE,Draft +GARD:12695,Legacy,GARD,,,,,,,,,,,,Artritis idiopática juvenil,FALSE,TRUE,Active +GARD:12696,Legacy,GARD,,,,,,,,,,,,Myoclonic epilepsy,FALSE,FALSE,Draft +GARD:12697,Active,Orphanet,ORPHA:252057,Group of disorders,[Category],Tumor of cranial and spinal nerves,[Rare tumor of cranial and spinal nerves],,,,,,,Tumor of cranial and spinal nerves,TRUE,FALSE,Active +GARD:12698,Active,Orphanet,ORPHA:85102,Group of disorders,[Clinical group],Perineurioma,,,,,,,,Perineurioma,TRUE,FALSE,Active +GARD:12699,Legacy,GARD,,,,,,,,,,,,Aciduria 2-hidroxiglutárica,TRUE,TRUE,Active +GARD:127,Active,Orphanet,ORPHA:3210,Disorder,[Malformation syndrome],Summitt syndrome,,"A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disabaility. There have been no further descriptions in the literature since 1992.",[272350],,,,,Summitt syndrome,TRUE,FALSE,Retired +GARD:12700,Legacy,GARD,,,,,,,,,,,,Displasia mesomelica de Langer,TRUE,TRUE,Active +GARD:12701,Legacy,GARD,,,,,,,,,,,,Síndrome de Gorham,TRUE,TRUE,Active +GARD:12703,Active,Orphanet,ORPHA:2764,Disorder,[Disease],Osteochondritis dissecans,[König disease],"Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.",,,,,,Osteochondritis dissecans,TRUE,FALSE,Active +GARD:12704,Active,Orphanet,ORPHA:399319,Group of disorders,[Category],Osteochondrosis,,,,,,,,Osteochondrosis,TRUE,FALSE,Active +GARD:12705,Legacy,GARD,,,,,,,,,,,,Collagen VI related muscular dystrophy ,TRUE,FALSE,Active +GARD:12706,Active,Orphanet,ORPHA:617440,Disorder,[Clinical syndrome],Painful legs and moving toes syndrome,[PLMT syndrome],,,,,,,Painful legs and moving toes syndrome,TRUE,FALSE,Active +GARD:12707,Legacy,GARD,,,,,,,,,,,,Congenital heart malformation,FALSE,FALSE,Active +GARD:12708,Legacy,GARD,,,,,,,,,,,,X-linked intellectual disability 63,FALSE,FALSE,Draft +GARD:12709,Legacy,GARD,,,,,,,,,,,,Combined hamartoma of the retina and the retinal pigment epithelium,FALSE,FALSE,Draft +GARD:12710,Legacy,GARD,,,,,,,,,,,,Chromosome 3 deletion,FALSE,FALSE,Draft +GARD:12711,Legacy,GARD,,,,,,,,,,,,Shewanella,FALSE,FALSE,Draft +GARD:12712,Legacy,GARD,,,,,,,,,,,,Parálisis congénita de la laringe,TRUE,TRUE,Active +GARD:12713,Active,Orphanet,ORPHA:137932,Disorder,[Malformation syndrome],Congenital laryngeal palsy,[Congenital vocal cord paralysis],"Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.",,,,,,Congenital laryngeal palsy,TRUE,FALSE,Active +GARD:12714,Legacy,GARD,,,,,,,,,,,,Síndrome de Angelman ,TRUE,TRUE,Active +GARD:12715,Active,Orphanet,ORPHA:457260,Disorder,[Disease],X-linked intellectual disability-hypotonia-movement disorder syndrome,,"A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.",[300958],,,,,DDX3X-related intellectual disability,TRUE,FALSE,Active +GARD:12716,Active,Orphanet,ORPHA:228240,Disorder,[Disease],Elastoderma,,"An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically occurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed.",,,,,,Elastoderma,TRUE,FALSE,Active +GARD:12718,Active,Orphanet,ORPHA:169186,Disorder,[Disease],Autosomal recessive centronuclear myopathy,[AR-CNM],"A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement.","[615959, 255200]",,,,,Autosomal recessive centronuclear myopathy,TRUE,FALSE,Active +GARD:12719,Active,Orphanet,ORPHA:169189,Disorder,[Disease],Autosomal dominant centronuclear myopathy,[AD-CNM],"A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.",[160150],,,,,Autosomal dominant centronuclear myopathy,TRUE,FALSE,Active +GARD:12720,Active,Orphanet,ORPHA:97232,Disorder,[Disease],Fingerprint body myopathy,,"Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.",[305550],,,,,Fingerprint body myopathy,TRUE,FALSE,Active +GARD:12721,Legacy,GARD,,,,,,,,,,,,Warfarin resistance,TRUE,FALSE,Active +GARD:12722,Active,Orphanet,ORPHA:324588,Disorder,[Disease],Familial dyskinesia and facial myokymia,[FDFM],"Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.",[606703],,,,,ADCY5-related dyskinesia ,TRUE,FALSE,Active +GARD:12723,Legacy,GARD,,,,,,,,,,,,Síndrome de Wolf-Hirschhorn,TRUE,TRUE,Active +GARD:12724,Active,Orphanet,ORPHA:98892,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia,[PVNH],"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.","[612881, 300049, 617201, 618185, 618918, 608098, 608097, 615544]",,,,,Periventricular heterotopia,TRUE,FALSE,Active +GARD:12725,Legacy,GARD,,,,,,,,,,,,Heterotopia nodular periventricular,TRUE,TRUE,Active +GARD:12726,Legacy,GARD,,,,,,,,,,,,Deficiencia del transportador de riboflavina,TRUE,TRUE,Active +GARD:12729,Legacy,GARD,,,,,,,,,,,,Autosomal dominant hereditary sensory and autonomic neuropathy,FALSE,FALSE,Draft +GARD:12730,Legacy,GARD,,,,,,,,,,,,Autosomal recessive hereditary sensory and autonomic neuropathy,FALSE,FALSE,Draft +GARD:12731,Active,Orphanet,ORPHA:139583,Disorder,[Disease],X-linked hereditary sensory and autonomic neuropathy with deafness,"[X-linked HSAN with deafness, X-linked HSAN with hearing loss, X-linked auditory neuropathy with peripheral sensory neuropathy type 1, X-linked hereditary sensory and autonomic neuropathy with hearing loss]",This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.,[300614],,,,,X-linked hereditary sensory and autonomic neuropathy with deafness,TRUE,FALSE,Active +GARD:12732,Active,Orphanet,ORPHA:391397,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 7,"[CIP with hyperhidrosis and gastrointestinal dysfunction, Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction, HSAN with hyperhidrosis and gastrointestinal dysfunction, HSAN7, Hereditary sensory and autonomic neuropathy type VII, Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction]","A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal.",[615548],,,,,Hereditary sensory and autonomic neuropathy type 7,TRUE,FALSE,Active +GARD:12733,Active,Orphanet,ORPHA:207015,Group of disorders,[Category],Rare hereditary disease with peripheral neuropathy,,,,,,,,Rare hereditary disease with peripheral neuropathy,TRUE,FALSE,Draft +GARD:12734,Legacy,GARD,,,,,,,,,,,,Peripheral resistance to thyroid hormones,TRUE,FALSE,Active +GARD:12735,Legacy,GARD,,,,,,,,,,,,Secondary adrenal insufficiency,TRUE,FALSE,Active +GARD:12736,Active,Orphanet,ORPHA:93548,Group of disorders,[Category],Glomerular disease,,,,,,,,Glomerular disease,TRUE,FALSE,Draft +GARD:12737,Legacy,GARD,,,,,,,,,,,,Basement membrane disease,TRUE,FALSE,Draft +GARD:12738,Legacy,GARD,,,,,,,,,,,,Primary glomerular disease,FALSE,FALSE,Draft +GARD:12739,Legacy,GARD,,,,,,,,,,,,Secondary glomerular disease,TRUE,FALSE,Draft +GARD:1274,Active,Orphanet,ORPHA:2888,Disorder,[Malformation syndrome],Pierre Robin syndrome-faciodigital anomaly syndrome,"[Chitayat-Meunier-Hodgkinson syndrome, Pierre Robin sequence-faciodigital anomaly syndrome]","A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal.",[311895],,,,,Chitayat Meunier Hodgkinson syndrome,TRUE,FALSE,Active +GARD:12740,Active,Orphanet,ORPHA:97566,Disorder,[Disease],Non-amyloid fibrillary glomerulopathy,"[Congo red-negative amyloidosis-like glomerulopathy, Non-amyloid fibrillary glomerulonephritis]","Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG, see this term) are often grouped together as pathogenetically related diseases.",,,,,,Fibrillary glomerulonephritis ,TRUE,FALSE,Active +GARD:12741,Active,Orphanet,ORPHA:91137,Group of disorders,[Clinical group],Immunotactoid or fibrillary glomerulopathy,[Immunotactoid or fibrillary glomerulonephritis],"Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) (see these terms), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.",,,,,,Immunotactoid or fibrillary glomerulopathy,TRUE,FALSE,Active +GARD:12742,Active,Orphanet,ORPHA:93568,Disorder,[Disease],Juvenile polymyositis,[Juvenile PM],"A rare type of juvenile idiopathic inflammatory myopathy (IIM) characterized by an onset before 18 years of age of chronic skeletal muscle inflammation, manifesting as progressive, proximal and distal muscle weakness and atrophy.",,,,,,Juvenile polymyositis,TRUE,FALSE,Active +GARD:12743,Legacy,GARD,,,,,,,,,,,,ACTG2-related disorders ,TRUE,FALSE,Active +GARD:12744,Active,Orphanet,ORPHA:2978,Disorder,[Clinical syndrome],Chronic intestinal pseudoobstruction,[CIPO],"Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.","[300048, 243180, 609629, 601223]",,,,,Chronic intestinal pseudoobstruction,TRUE,FALSE,Active +GARD:12745,Legacy,GARD,,,,,,,,,,,,Síndrome de megavejiga - microcolon - hipoperistaltismo intestinal ,TRUE,TRUE,Active +GARD:12746,Legacy,GARD,,,,,,,,,,,,Cystoid macular edema ,FALSE,FALSE,Draft +GARD:12747,Legacy,GARD,,,,,,,,,,,,Hereditary spastic paraplegia - autosomal dominant inheritance,TRUE,FALSE,Draft +GARD:12748,Legacy,GARD,,,,,,,,,,,,Hereditary spastic paraplegia - autosomal recessive inheritance,TRUE,FALSE,Draft +GARD:12749,Active,Orphanet,ORPHA:171622,Disorder,[Disease],Autosomal recessive spastic paraplegia type 32,[SPG32],"Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.",[611252],,,,,Spastic paraplegia 32,TRUE,FALSE,Active +GARD:1275,Legacy,GARD,,,,,,,,,,,,"Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis",TRUE,FALSE,Retired +GARD:12750,Legacy,GARD,,,,,,,,,,,,Hereditary spastic paraplegia - X-linked inheritance,TRUE,FALSE,Draft +GARD:12751,Legacy,GARD,,,,,,,,,,,,Hereditary spastic paraplegia – maternal inheritance,TRUE,FALSE,Draft +GARD:12752,Legacy,GARD,,,,,,,,,,,,Occupational lung diseases,FALSE,FALSE,Active +GARD:12753,Legacy,GARD,,,,,,,,,,,,Pneumoconiosis,FALSE,FALSE,Active +GARD:12754,Legacy,GARD,,,,,,,,,,,,Hypertrichosis universalis,TRUE,FALSE,Active +GARD:12755,Legacy,GARD,,,,,,,,,,,,"Parasitic Infection, organism unknown",FALSE,FALSE,Draft +GARD:12756,Legacy,GARD,,,,,,,,,,,,Exfoliative cheilitis,FALSE,FALSE,Draft +GARD:12757,Active,Orphanet,ORPHA:519,Group of disorders,[Clinical group],Acute myeloid leukemia,"[AML, Acute myelogenous leukemia]","A group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. They manifest by fever, pallor, anemia, hemorrhages and recurrent infections.",[601626],,,,,Acute myeloid leukemia ,TRUE,FALSE,Active +GARD:12758,Active,Orphanet,ORPHA:98277,Group of disorders,[Category],Acute myeloid leukemia with recurrent genetic anomaly,[AML with recurrent genetic anomaly],,[601626],,,,,Acute myeloid leukemia with recurrent genetic anomaly,TRUE,FALSE,Active +GARD:12759,Active,Orphanet,ORPHA:402020,Disorder,[Disease],Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2),[AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)],"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.",,,,,,Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2),TRUE,FALSE,Active +GARD:12760,Active,Orphanet,ORPHA:167714,Group of disorders,[Category],Unclassified acute myeloid leukemia,[Unclassified AML],,[601626],,,,,Unclassified acute myeloid leukemia ,TRUE,FALSE,Active +GARD:12761,Active,Orphanet,ORPHA:86845,Disorder,[Disease],Acute myeloid leukaemia with myelodysplasia-related features,"[AML with multilineage dysplasia, AML with myelodysplasia-related features, Acute myeloid leukemia with multilineage dysplasia]","A rare acute myeloid leukemia (AML) characterized by the presence of acute leukemia with at least 20% peripheral blood or bone marrow blasts with morphological features of myelodysplasia, or occurrence in patients with a prior history of a myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm, with MDS-related cytogenetic abnormalities, in the absence of specific genetic abnormalities characteristic of AML with recurrent genetic abnormalities. Prior cytotoxic or radiation therapy for an unrelated disease must be excluded. The condition occurs mainly in elderly patients and is rare in children. Patients often present with severe pancytopenia. Prognosis is generally poor.",[601626],,,,,AML with myelodysplasia-related features ,TRUE,FALSE,Active +GARD:12762,Active,Orphanet,ORPHA:86846,Group of disorders,[Category],Therapy related acute myeloid leukemia and myelodysplastic syndrome,"[Secondary AML, Secondary acute myeloid leukemia, Therapy-related AML and myelodysplastic syndrome]",,[601626],,,,,Therapy related acute myeloid leukemia and myelodysplastic syndrome,TRUE,FALSE,Active +GARD:12763,Active,Orphanet,ORPHA:86850,Disorder,[Disease],Myeloid sarcoma,"[Chloroma, Extramedullary myeloid tumor, Granulocytic sarcoma]",Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site.,,,,,,Myeloid sarcoma,TRUE,FALSE,Active +GARD:12764,Legacy,GARD,,,,,,,,,,,,Myeloid proliferations related to Down syndrome,TRUE,FALSE,Active +GARD:12765,Active,Orphanet,ORPHA:420611,Disorder,[Disease],Transient myeloproliferative syndrome,"[TMD, Transient abnormal myelopoiesis, Transient myeloproliferative disease]","A rare hematologic disease characterized by clinical and morphological findings indistinguishable from those of acute myeloid leukemia, typically occurring in newborns with Down syndrome. Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21, acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia, less commonly other cytopenias, leukocytosis, hepatosplenomegaly, jaundice, ascites, respiratory distress, bleeding, and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life, although some may develop life-threatening hepatic, renal, or cardiac complications.",[159595],,,,,Transient myeloproliferative syndrome,TRUE,FALSE,Active +GARD:12766,Active,Orphanet,ORPHA:217377,Disorder,[Malformation syndrome],Microduplication Xp11.22p11.23 syndrome,"[Dup(X)(p11.22p11.23), Trisomy Xp11.22p11.23]",Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.,[300801],,,,,Microduplication Xp11.22-p11.23 syndrome,TRUE,FALSE,Active +GARD:12767,Legacy,GARD,,,,,,,,,,,,Preaxial polydactyly of fingers,TRUE,FALSE,Active +GARD:12768,Active,Orphanet,ORPHA:284388,Disorder,[Clinical syndrome],Reversible cerebral vasoconstriction syndrome,[RCVS],"A rare cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries. It may occur spontaneously or be provoked by various precipitating factors, the most common being postpartum and exposure to various vasoactive substances such as illicit drugs and selective serotonin-reuptake inhibitors. The major complication is ischemic or hemorrhagic stroke.",,,,,,Reversible cerebral vasoconstriction syndrome,TRUE,FALSE,Active +GARD:12769,Legacy,GARD,,,,,,,,,,,,Central polydactyly of fingers,FALSE,FALSE,Active +GARD:1277,Legacy,GARD,,,,,,,,,,,,Chitty Hall Webb syndrome,TRUE,FALSE,Active +GARD:12770,Legacy,GARD,,,,,,,,,,,,Postaxial polydactyly of toes ,FALSE,FALSE,Active +GARD:12771,Legacy,GARD,,,,,,,,,,,,Preaxial polydactyly of toes,FALSE,FALSE,Active +GARD:12772,Active,Orphanet,ORPHA:180257,Group of disorders,[Category],Rare malignant breast tumor,[Rare breast cancer],,,,,,,Rare malignant breast tumor,TRUE,FALSE,Draft +GARD:12773,Active,Orphanet,ORPHA:213528,Disorder,[Disease],Rare adenocarcinoma of the breast,,"A rare malignant breast tumor disease encompassing special rare types of adenocarcinoma of the breast, i.e. tubular adenocarcinoma, mucinous carcinoma, medullary carcinoma NOS, papillary adenocarcinoma NOS, cribriform carcinoma, apocrine adenocarcinoma, secretory carcinoma, glycogen-rich clear cell carcinoma, lipid-rich carcinoma, and oncocytic carcinoma.",,,,,,Rare adenocarcinoma of the breast,TRUE,FALSE,Active +GARD:12774,Active,Orphanet,ORPHA:213557,Disorder,[Disease],Salivary gland type cancer of the breast,[Salivary gland type carcinoma of the breast],"Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma (see this term), mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.",,,,,,Salivary gland type cancer of the breast,TRUE,FALSE,Active +GARD:12775,Active,Orphanet,ORPHA:180253,Group of disorders,[Category],Rare benign breast tumor,,,,,,,,Rare benign breast tumor,TRUE,FALSE,Draft +GARD:12776,Legacy,GARD,,,,,,,,,,,,Carcinoma of unknown primary site,FALSE,FALSE,Draft +GARD:12777,Active,Orphanet,ORPHA:300496,Disorder,[Malformation syndrome],Multiple congenital anomalies-hypotonia-seizures syndrome type 2,[MCAHS type 2],"A rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.",[300868],,,,,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,TRUE,FALSE,Active +GARD:12778,Legacy,GARD,,,,,,,,,,,,Acute liver failure,FALSE,FALSE,Draft +GARD:12779,Active,Orphanet,ORPHA:284247,Disorder,[Malformation syndrome],Familial retinal arterial macroaneurysm,"[FRAM, Retinal arterial macroaneurysm and supravalvular pulmonic stenosis]","Familial retinal arterial macroaneurysm is a rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.",[614224],,,,,Retinal arterial macroaneurysm with supravalvular pulmonic stenosis,TRUE,FALSE,Active +GARD:12780,Legacy,GARD,,,,,,,,,,,,Síndrome de Nance-Horan,TRUE,TRUE,Active +GARD:12781,Active,Orphanet,ORPHA:280633,Disorder,[Malformation syndrome],Multiple congenital anomalies-hypotonia-seizures syndrome,"[Congenital disorder of glycosylation due to PIGN deficiency, PIGN-CDG]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.",[614080],,,,,Multiple congenital anomalies-hypotonia-seizures syndrome,TRUE,FALSE,Active +GARD:12782,Active,Orphanet,ORPHA:371235,Group of disorders,[Category],Congenital disorder of glycosylation with developmental anomaly,[CDG with developmental anomaly],,,,,,,Congenital disorder of glycosylation with developmental anomaly,TRUE,FALSE,Active +GARD:12783,Legacy,GARD,,,,,,,,,,,,PIGA deficiency,TRUE,FALSE,Draft +GARD:12784,Active,Orphanet,ORPHA:542643,Disorder,[Clinical syndrome],Livedoid vasculopathy,"[Livedo reticularis with summer ulcerations, Milian atrophie blanche, Segmental hyalinizing vasculitis]","A rare vascular skin disease characterized by recurrent focal non-inflammatory thrombosis of dermal venulae, predominantly of the lower extremities, resulting in a cutaneous response manifested as pruritus and painful papules and erythematous plaques. The lesions evolve into hemorrhagic vesicles or bullae, which rupture and turn into painful ulcers merging into reticulate, confluent, geometric, and painful ulcerations. During a period of a few months, the ulcerations change to porcelain-white atrophic scars with punctate telangiectasia (so-called atrophie blanche). In active disease, lesions in different stages coexist.",,,,,,Livedoid vasculopathy,TRUE,FALSE,Active +GARD:12785,Legacy,GARD,,,,,,,,,,,,Mosaic tetrasomy 13,FALSE,FALSE,Draft +GARD:12786,Legacy,GARD,,,,,,,,,,,,Polimiositis,TRUE,TRUE,Active +GARD:12787,Legacy,GARD,,,,,,,,,,,,Síndrome de Goodpasture,TRUE,TRUE,Active +GARD:12788,Legacy,GARD,,,,,,,,,,,,JC virus,FALSE,FALSE,Draft +GARD:12789,Legacy,GARD,,,,,,,,,,,,Síndrome de triple A,TRUE,TRUE,Active +GARD:12790,Legacy,GARD,,,,,,,,,,,,Oligodontia,FALSE,FALSE,Draft +GARD:12791,Legacy,GARD,,,,,,,,,,,,Mucinous adenocarcinoma of the fistula,FALSE,FALSE,Draft +GARD:12792,Legacy,GARD,,,,,,,,,,,,Juvenile ossifying fibroma ,TRUE,FALSE,Active +GARD:12793,Legacy,GARD,,,,,,,,,,,,COL4A1-Related Disorder,FALSE,FALSE,Draft +GARD:12794,Active,Orphanet,ORPHA:89842,Disorder,[Disease],"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form","[Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis, Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type, Generalized RDEB, intermediate form, RDEB, non-Hallopeau-Siemens type]",A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.,,,,,,Recessive dystrophic epidermolysis bullosa-generalized other,TRUE,FALSE,Active +GARD:12795,Legacy,GARD,,,,,,,,,,,,Recessive dystrophic epidermolysis bullosa ,TRUE,FALSE,Active +GARD:12796,Active,Orphanet,ORPHA:166260,Subtype of disorder,[Clinical subtype],Dentinogenesis imperfecta type 2,"[Capdepont teeth, DGI-2, DI-2, Dentinogenesis imperfecta, Shields type 2]","Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth.","[605594, 125490]",,,,,Dentinogenesis imperfecta type 2,TRUE,FALSE,Active +GARD:12797,Legacy,GARD,,,,,,,,,,,,Dentinogenesis imperfecta type 1,TRUE,FALSE,Draft +GARD:12798,Active,Orphanet,ORPHA:1020,Disorder,[Disease],Early-onset autosomal dominant Alzheimer disease,"[EOFAD, Early-onset familial autosomal dominant Alzheimer disease, Familial Alzheimer disease]","Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.","[104310, 606889, 605526, 604154, 611152, 605055, 607116, 611073, 606187, 609636, 607822, 609790, 611154, 602096, 104300]",,,,,"Early-onset, autosomal dominant Alzheimer disease",TRUE,FALSE,Active +GARD:12799,Active,Orphanet+OMIM,OMIM:104310,Subtype of disorder,[Disease subtype],Alzheimer disease 2,"[Alzheimer disease 2, late-onset, alzheimer disease associated with apoe4]",,[104310],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,Late-Onset Familial Alzheimer Disease,TRUE,FALSE,Active +GARD:1280,Active,Orphanet,ORPHA:171,Disorder,[Disease],Primary sclerosing cholangitis,[PSC],"Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.","[602114, 613806]",,,,,Primary sclerosing cholangitis,TRUE,FALSE,Active +GARD:12800,Active,Orphanet,ORPHA:306498,Group of disorders,[Clinical group],PTEN hamartoma tumor syndrome,[PHTS],"A group rare skin tumor or hamartoma diseases characterized by a germline PTEN mutation and clinical manifestations of hamartomas, overgrowth, and increased risk of neoplasia, notably breast carcinomas, epithelial thyroid carcinomas, endometrial carcinomas, renal cell carcinomas, and colorectal carcinoma. Non-malignant manifestations include macrocephaly, benign thyroid pathology (especially Hashimoto thyroiditis), mucocutaneous hamartomas, colonic polyps, and vascular malformations. Diseases in this group include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, Lhermitte-Duclos disease, and Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome.",,,,,,PTEN hamartoma tumor syndrome,TRUE,FALSE,Active +GARD:12801,Active,Orphanet,ORPHA:2969,Disorder,[Disease],Proteus-like syndrome,,Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.,[158350],,,,,Proteus-like syndrome,TRUE,FALSE,Active +GARD:12802,Legacy,GARD,,,,,,,,,,,,Crystal arthropathies ,FALSE,FALSE,Active +GARD:12803,Legacy,GARD,,,,,,,,,,,,Phaeohyphomycosis,TRUE,FALSE,Active +GARD:12804,Legacy,GARD,,,,,,,,,,,,Linfangiectasia intestinal primaria,TRUE,TRUE,Draft +GARD:12806,Active,Orphanet,ORPHA:1797,Disorder,[Malformation syndrome],Autosomal dominant spondylocostal dysostosis,[Autosomal dominant spondylocostal dysplasia],"A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.",[122600],,,,,Spondylocostal dysostosis 5,TRUE,FALSE,Active +GARD:12807,Active,Orphanet+OMIM,OMIM:616566,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 6, autosomal recessive",,,[616566],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 6,TRUE,FALSE,Active +GARD:12808,Legacy,GARD,,,,,,,,,,,,Enfermedad de Krabbe ,TRUE,TRUE,Active +GARD:12809,Legacy,GARD,,,,,,,,,,,,Neumotorax catamenial,TRUE,TRUE,Active +GARD:12810,Legacy,GARD,,,,,,,,,,,,Pyruvate dehydrogenase E3-binding protein deficiency,FALSE,FALSE,Draft +GARD:12811,Active,Orphanet,ORPHA:404463,Disorder,[Disease],Multisystemic smooth muscle dysfunction syndrome,,"Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.",[613834],,,,,Multisystemic smooth muscle dysfunction syndrome,TRUE,FALSE,Active +GARD:12812,Legacy,GARD,,,,,,,,,,,,Hepatosplenic gamma delta T-cell lymphoma,FALSE,FALSE,Draft +GARD:12813,Legacy,GARD,,,,,,,,,,,,Pustular psoriasis,TRUE,FALSE,Active +GARD:12814,Active,Orphanet,ORPHA:508488,Disorder,[Malformation syndrome],8q24.3 microdeletion syndrome,"[Del(8)(q24.3), Deletion 8q24.3, Monosomy 8q24.3, Verheij syndrome]","A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures.",[615583],,,,,Chromosome 8q24.3 deletion syndrome,TRUE,FALSE,Active +GARD:12815,Active,Orphanet,ORPHA:363686,Disorder,[Disease],Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,,"Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.",[615074],,,,,GATAD2B-associated neurodevelopmental disorder,TRUE,FALSE,Active +GARD:12816,Active,Orphanet,ORPHA:228399,Disorder,[Malformation syndrome],8q12 microduplication syndrome,"[Dup(8)(q12), Trisomy 8q12]","The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).",,,,,,8q12 microduplication syndrome,TRUE,FALSE,Active +GARD:12817,Legacy,GARD,,,,,,,,,,,,Síndrome de Cockayne ,TRUE,TRUE,Active +GARD:12819,Active,Orphanet,ORPHA:247353,Disorder,[Disease],Generalized pustular psoriasis,[GPP],"Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.","[614204, 616106]",,,,,Generalized pustular psoriasis,TRUE,FALSE,Active +GARD:12820,Active,Orphanet,ORPHA:163927,Disorder,[Disease],Pustulosis palmaris et plantaris,"[LPP, Localized pustular psoriasis, PPP, Palmoplantar pustulosis]","A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background. The lesions are usually painful and affect the palms and soles, sometimes also the lateral aspects of hands and feet. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking.",,,,,,Pustulosis palmaris et plantaris,TRUE,FALSE,Active +GARD:12821,Active,Orphanet,ORPHA:171430,Disorder,[Disease],Severe congenital nemaline myopathy,,Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.,"[615731, 161800, 615348, 616165, 256030]",,,,,Severe congenital nemaline myopathy,TRUE,FALSE,Active +GARD:12822,Active,Orphanet,ORPHA:171436,Disorder,[Disease],Typical nemaline myopathy,,Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.,"[615731, 610687, 609285, 161800, 616165, 256030]",,,,,Typical congenital nemaline myopathy ,TRUE,FALSE,Active +GARD:12823,Active,Orphanet,ORPHA:171433,Disorder,[Disease],Intermediate nemaline myopathy,,Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.,"[615731, 609284, 161800, 256030]",,,,,Intermediate congenital nemaline myopathy,TRUE,FALSE,Active +GARD:12824,Active,Orphanet,ORPHA:171442,Disorder,[Disease],Adult-onset nemaline myopathy,,A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.,,,,,,Adult-onset nemaline myopathy,TRUE,FALSE,Active +GARD:12825,Active,Orphanet,ORPHA:561854,Disorder,[Disease],FOXG1 syndrome,[FOXG1-related epileptic-dyskinetic encephalopathy],"A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.",,,,,,FOXG1 syndrome,TRUE,FALSE,Active +GARD:12826,Legacy,GARD,,,,,,,,,,,,GATAD2B associated neurodevelopment disorder,FALSE,FALSE,Retired +GARD:12827,Active,Orphanet,ORPHA:69735,Disorder,[Disease],Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,[Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome],"An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.","[607823, 137940]",,,,,Hypotrichosis-lymphedema-telangiectasia syndrome,TRUE,FALSE,Active +GARD:12828,Legacy,GARD,,,,,,,,,,,,Enfermedad celiaca,TRUE,TRUE,Active +GARD:12829,Active,Orphanet,ORPHA:411703,Disorder,[Disease],Pulmonary non-tuberculous mycobacterial infection,[Non-tuberculous mycobacterial lung disease],"A rare bacterial infectious disease caused by non-tuberculous mycobacteria (including Mycobacterium avium complex, Mycobacterium kansasii, or Mycobacterium xenopi, among others), characterized by chronic pulmonary disease with symptoms like chronic cough (with or without sputum production), chest pain, and weight loss. Predisposing factors are preexisting lung conditions, neoplasms, immunosuppression, or thoracic skeletal abnormalities.",,,,,,Nontuberculous mycobacterial lung disease,TRUE,FALSE,Active +GARD:12830,Legacy,GARD,,,,,,,,,,,,Intellectual disability due to a single gene mutation,FALSE,FALSE,Active +GARD:12831,Legacy,GARD,,,,,,,,,,,,Myosinopathies,TRUE,FALSE,Active +GARD:12832,Active,Orphanet+OMIM,OMIM:613426,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1s",,,[613426],[154],[Familial isolated dilated cardiomyopathy],[2905],,Dilated cardiomyopathy-1S ,TRUE,FALSE,Active +GARD:12833,Legacy,GARD,,,,,,,,,,,,FGFR-Related Craniosynostosis Syndromes,TRUE,FALSE,Draft +GARD:12834,Legacy,GARD,,,,,,,,,,,,Síndromes de craneosinostosis asociados al gen FGFR,TRUE,TRUE,Internal +GARD:12835,Active,Orphanet,ORPHA:79126,Disorder,[Disease],Acute interstitial pneumonia,"[Acute interstitial pneumonitis, Hamman-Rich syndrome]",A rare rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia.,[178500],,,,,Acute interstitial pneumonia,TRUE,FALSE,Active +GARD:12836,Legacy,GARD,,,,,,,,,,,,PURA syndrome,TRUE,FALSE,Active +GARD:12837,Legacy,GARD,,,,,,,,,,,,Síndrome de Seckel,TRUE,TRUE,Active +GARD:12838,Legacy,GARD,,,,,,,,,,,,Microcefalia primaria autosómica recesiva,TRUE,TRUE,Active +GARD:12839,Legacy,GARD,,,,,,,,,,,,Heterotopic ossification,FALSE,FALSE,Draft +GARD:12840,Legacy,GARD,,,,,,,,,,,,Leiomiomatosis hereditaria y cáncer de células renales,TRUE,TRUE,Active +GARD:12841,Legacy,GARD,,,,,,,,,,,,Pervasive arousal withdrawal syndrome,FALSE,FALSE,Draft +GARD:12842,Legacy,GARD,,,,,,,,,,,,Esclerosis múltiple ,FALSE,TRUE,Active +GARD:12843,Active,Orphanet,ORPHA:71274,Disorder,[Disease],Disseminated peritoneal leiomyomatosis,"[DPL, Diffuse peritoneal leiomyomatosis, LPD, Leiomyomatosis peritonealis disseminate]",Disseminated peritoneal leiomyomatosis (DPL) is characterized by the proliferation of multiple benign smooth muscle cell-containing nodules in the peritoneal cavity.,,,,,,Disseminated peritoneal leiomyomatosis,TRUE,FALSE,Active +GARD:12844,Active,Orphanet,ORPHA:363396,Disorder,[Disease],High myopia-sensorineural deafness syndrome,[High myopia-sensorineural hearing loss syndrome],"High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.",[221200],,,,,Deafness and myopia syndrome,TRUE,FALSE,Active +GARD:12845,Active,Orphanet,ORPHA:444077,Disorder,[Malformation syndrome],Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,[CHOPS syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux.",[616368],,,,,CHOPS syndrome,TRUE,FALSE,Active +GARD:12846,Legacy,GARD,,,,,,,,,,,,Berardinelli-Seip congenital ,TRUE,FALSE,Draft +GARD:12847,Legacy,GARD,,,,,,,,,,,,"Displasia ectodérmica, hipohidrosis e hipotiroidismo",TRUE,TRUE,Active +GARD:12848,Legacy,GARD,,,,,,,,,,,,Síndrome de Griscelli,TRUE,TRUE,Active +GARD:12849,Legacy,GARD,,,,,,,,,,,,Dissociative Identity Disorder,FALSE,FALSE,Draft +GARD:12850,Legacy,GARD,,,,,,,,,,,,ARID1B-related intellectual disability,TRUE,FALSE,Draft +GARD:12851,Active,Orphanet+OMIM,OMIM:613970,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 6, with or without seizures","[Mental retardation, autosomal dominant 6, with or without seizures]","MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by {7:Platzer et al., 2017}).",[613970],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,GRIN2B related syndrome,TRUE,FALSE,Active +GARD:12852,Legacy,GARD,,,,,,,,,,,,MBD25–related intellectual disability,TRUE,FALSE,Active +GARD:12853,Legacy,GARD,,,,,,,,,,,,MED23-related intellectual disability,FALSE,FALSE,Draft +GARD:12854,Active,Orphanet,ORPHA:46348,Disorder,[Disease],Paroxysmal extreme pain disorder,[Familial rectal pain],"A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.",[167400],,,,,Paroxysmal extreme pain disorder,TRUE,FALSE,Active +GARD:12855,Legacy,GARD,,,,,,,,,,,,Vestibular migraine,FALSE,FALSE,Retired +GARD:12856,Legacy,GARD,,,,,,,,,,,,Trigeminal trophic syndrome,TRUE,FALSE,Active +GARD:12857,Legacy,GARD,,,,,,,,,,,,Enfermedad de Menkes,TRUE,TRUE,Active +GARD:12858,Legacy,GARD,,,,,,,,,,,,Autosomal Dominant Cerebellar Ataxias,FALSE,FALSE,Retired +GARD:12859,Legacy,GARD,,,,,,,,,,,,Autosomal Recessive Cerebellar Ataxias,FALSE,FALSE,Draft +GARD:12860,Active,Orphanet,ORPHA:64753,Disorder,[Disease],Spinocerebellar ataxia with axonal neuropathy type 2,"[AOA2, Ataxia-oculomotor apraxia type 2, SCAN 2, SCAR1]","A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.","[615217, 606002]",,,,,Ataxia with Oculomotor Apraxia Type 2,TRUE,FALSE,Active +GARD:12861,Active,Orphanet,ORPHA:572550,Subtype of disorder,[Clinical subtype],RFVT3-related riboflavin transporter deficiency,"[RTD3, Riboflavin transporter deficiency 3]",,[614707],,,,,"Brown-Vialetto-Van Laere syndrome 2 ",TRUE,FALSE,Active +GARD:12862,Active,Orphanet,ORPHA:263543,Disorder,[Disease],Generalized peeling skin syndrome,"[Generalized PSS, Generalized deciduous skin]","Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.","[616265, 270300]",,,,,Generalized peeling skin syndrome,TRUE,FALSE,Active +GARD:12863,Active,Orphanet,ORPHA:263534,Disorder,[Disease],Acral peeling skin syndrome,"[Acral PSS, Acral deciduous skin, Localized PSS, Localized deciduous skin]",A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.,[609796],,,,,Acral peeling skin syndrome,TRUE,FALSE,Active +GARD:12864,Active,Orphanet,ORPHA:140905,Disorder,[Disease],Hyperlipidemia due to hepatic triacylglycerol lipase deficiency,"[Hyperlipidemia due to HL deficiency, Hyperlipidemia due to HTGL deficiency, Hyperlipidemia due to hepatic lipase deficiency, Hyperlipidemia due to hepatic triglyceride lipase deficiency]","Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia disorder characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.",[614025],,,,,Hepatic lipase deficiency,TRUE,FALSE,Active +GARD:12865,Legacy,GARD,,,,,,,,,,,,Anemia diseritropoyética congénita tipo 1,TRUE,TRUE,Active +GARD:12867,Active,Orphanet,ORPHA:96253,Disorder,[Disease],Cushing disease,"[Corticotroph pituitary adenoma, Pituitary corticotroph micro-adenoma, Pituitary-dependent Cushing syndrome]",Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.,[219090],,,,,ACTH-secreting pituitary adenoma,TRUE,FALSE,Active +GARD:12868,Active,Orphanet,ORPHA:209943,Disorder,[Disease],IRVAN syndrome,[Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome],"A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.",,,,,,IRVAN syndrome,TRUE,FALSE,Active +GARD:12869,Legacy,GARD,,,,,,,,,,,,Anemia diseritropoyética congénita,TRUE,TRUE,Active +GARD:12870,Legacy,GARD,,,,,,,,,,,,Deficiencia de alfa-1 antitripsina,TRUE,TRUE,Active +GARD:12871,Legacy,GARD,,,,,,,,,,,,Síndrome de la arteria mesentérica superior,TRUE,TRUE,Active +GARD:12872,Legacy,GARD,,,,,,,,,,,,Hypothyroidism,FALSE,FALSE,Draft +GARD:12873,Legacy,GARD,,,,,,,,,,,,spinocerebellar degeneration,FALSE,FALSE,Draft +GARD:12874,Active,Orphanet+OMIM,OMIM:613848,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type x","[Oi, type x]","Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera ({1:Christiansen et al., 2010}).",[613848],[216812],[Osteogenesis imperfecta type 3],[8695],,Osteogenesis imperfecta type X,TRUE,FALSE,Active +GARD:12875,Active,Orphanet+OMIM,OMIM:610968,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xi","[Oi, type xi]","Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by {1:Alanay et al., 2010}).",[610968],"[216820, 216812]","[Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[8695, 8696]",,Osteogenesis imperfecta type XI,TRUE,FALSE,Active +GARD:12876,Legacy,GARD,,,,,,,,,,,,preterm labor,FALSE,FALSE,Draft +GARD:12877,Legacy,GARD,,,,,,,,,,,,Enfermedad de Alexander,TRUE,TRUE,Active +GARD:12878,Legacy,GARD,,,,,,,,,,,,occipital neuralgia,FALSE,FALSE,Draft +GARD:12879,Legacy,GARD,,,,,,,,,,,,Hereditary palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:1288,Active,Orphanet,ORPHA:79304,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 2,"[BSEP deficiency, PFIC2]","Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.","[615878, 601847]",,,,,Progressive familial intrahepatic cholestasis type 2,TRUE,FALSE,Active +GARD:12880,Legacy,GARD,,,,,,,,,,,,Diffuse palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12881,Legacy,GARD,,,,,,,,,,,,Disease with diffuse palmoplantar keratoderma as a major feature,FALSE,FALSE,Draft +GARD:12882,Legacy,GARD,,,,,,,,,,,,Isolated diffuse palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12883,Legacy,GARD,,,,,,,,,,,,Focal palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12885,Legacy,GARD,,,,,,,,,,,,Isolated focal palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12886,Legacy,GARD,,,,,,,,,,,,Punctate palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12887,Legacy,GARD,,,,,,,,,,,,Disease with punctate palmoplantar keratoderma as a major feature,FALSE,FALSE,Draft +GARD:12888,Legacy,GARD,,,,,,,,,,,,Isolated punctate palmoplantar keratoderma,FALSE,FALSE,Draft +GARD:12889,Active,Orphanet,ORPHA:209908,Disorder,[Disease],Isolated childhood apraxia of speech,"[Isolated CAS, Isolated developmental verbal dyspraxia, Pure CAS, Pure childhood apraxia of speech, Speech and language disorder with orofacial dyspraxia, Speech-language disorder type 1]","A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits.",[602081],,,,,Childhood apraxia of speech,TRUE,FALSE,Active +GARD:1289,Active,Orphanet,ORPHA:79305,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 3,[PFIC3],"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.",[602347],,,,,Progressive familial intrahepatic cholestasis type 3,TRUE,FALSE,Active +GARD:12890,Legacy,GARD,,,,,,,,,,,,Proliferating trichilemmal cysts,TRUE,FALSE,Retired +GARD:12891,Legacy,GARD,,,,,,,,,,,,Enfermedad de almacenamiento de glucógeno tipo 5,TRUE,TRUE,Active +GARD:12892,Active,Orphanet,ORPHA:352563,Disorder,[Disease],Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,"[COXPD16, Combined oxidative phosphorylation defect type 16]","A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.",[615395],,,,,Combined oxidative phosphorylation deficiency 16,TRUE,FALSE,Active +GARD:12893,Active,Orphanet,ORPHA:314051,Disorder,[Disease],Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,"[COXPD12, Combined oxidative phosphorylation defect type 12, LTBL]","A rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.",[614924],,,,,Combined oxidative phosphorylation deficiency,TRUE,FALSE,Active +GARD:12894,Active,Orphanet,ORPHA:448237,Disorder,[Disease],Zika virus disease,[Zika virus infection],"Zika virus disease is an emerging Aedes mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.",,,,,,Zika virus infection,TRUE,FALSE,Active +GARD:12895,Legacy,GARD,,,,,,,,,,,,Síndrome de Rubinstein-Taybi,TRUE,TRUE,Active +GARD:12896,Legacy,GARD,,,,,,,,,,,,Síndrome de Turner,TRUE,TRUE,Active +GARD:12897,Legacy,GARD,,,,,,,,,,,,Síndrome de Adams-Oliver,TRUE,TRUE,Active +GARD:12898,Legacy,GARD,,,,,,,,,,,,Insensibilidad congénita al dolor con anhidrosis,TRUE,TRUE,Active +GARD:12899,Legacy,GARD,,,,,,,,,,,,Síndrome de Guillain-Barré,TRUE,TRUE,Active +GARD:12900,Active,Orphanet+OMIM,OMIM:612164,Subtype of disorder,"[Clinical syndrome subtype, Disease subtype]",Developmental and epileptic encephalopathy 4,"[Epileptic encephalopathy, early infantile, 4]","Developmental and epileptic encephalopathy-4 (DEE4) is a neurologic disorder characterized by the onset of tonic seizures in early infancy (usually in first months of life). In most cases, seizures increase in frequency and become refractory. Affected individuals have profoundly impaired psychomotor development with poor head control, limited or no ability to walk, spastic quadriplegia, and poor or absent speech. Brain imaging may show cortical atrophy and hypomyelination. EEG studies in the more severe cases show a burst-suppression pattern, consistent with a clinical diagnosis of Ohtahara syndrome, and/or hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Less severely affected individuals have later onset of seizures (summary by {5:Saitsu et al., 2008}; {3:Hamdan et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}.",[612164],"[1934, 33069]","[Early infantile epileptic encephalopathy, Dravet syndrome]","[10430, 9255]",,Early infantile epileptic encephalopathy 4,TRUE,FALSE,Active +GARD:12901,Active,Orphanet+OMIM,OMIM:615905,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta,"[Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta]","Developmental and epileptic encephalopathy-25 with amelogenesis imperfecta (DEE25) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in early infancy. Most patients present with seizures in the neonatal period, which is often associated with status epilepticus. However, there is phenotypic variability, and some patients have onset of seizures later in infancy. Affected individuals show global developmental delay with intellectual disability and poor speech and communication. The seizures may remit somewhat with age, but there are persistent neurologic symptoms, including ataxia, spasticity, and abnormal involuntary movements. In addition to neurologic deficits, patients also have dental anomalies with amelogenesis imperfecta (summary by {4:Thevenon et al., 2014} and {3:Schossig et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615905],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,Early infantile epileptic encephalopathy 25,TRUE,FALSE,Active +GARD:12902,Legacy,GARD,,,,,,,,,,,,Artrogriposis múltiple congénita,TRUE,TRUE,Active +GARD:12903,Active,Orphanet,ORPHA:401777,Disorder,[Disease],Optic atrophy-intellectual disability syndrome,"[BBSOAS, Bosch-Boonstra-Schaaf optic atrophy syndrome]","Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.",[615722],,,,,Optic atrophy-intellectual disability syndrome,TRUE,FALSE,Draft +GARD:12904,Legacy,GARD,,,,,,,,,,,,Síndrome de Troyer,TRUE,TRUE,Active +GARD:12905,Legacy,GARD,,,,,,,,,,,,Síndrome de opsoclono-mioclono,TRUE,TRUE,Active +GARD:12906,Legacy,GARD,,,,,,,,,,,,CYP2C19-related poor drug metabolism,FALSE,FALSE,Active +GARD:12907,Legacy,GARD,,,,,,,,,,,,intersex,FALSE,FALSE,Draft +GARD:12908,Legacy,GARD,,,,,,,,,,,,Duarte Galactosemia,TRUE,FALSE,Active +GARD:12909,Legacy,GARD,,,,,,,,,,,,Nevo de Becker,TRUE,TRUE,Active +GARD:12910,Legacy,GARD,,,,,,,,,,,,Síndrome del nevo de Becker,TRUE,TRUE,Active +GARD:12911,Legacy,GARD,,,,,,,,,,,,Scleritis,TRUE,FALSE,Active +GARD:12912,Legacy,GARD,,,,,,,,,,,,Hippocampal sclerosis,FALSE,FALSE,Draft +GARD:12913,Active,Orphanet,ORPHA:500533,Disorder,[Disease],Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,[PMSE syndrome],"A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others.",[611087],,,,,"Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome",TRUE,FALSE,Active +GARD:12914,Legacy,GARD,,,,,,,,,,,,Bird Mites,FALSE,FALSE,Draft +GARD:12915,Active,Orphanet,ORPHA:319612,Subtype of disorder,[Etiological subtype],X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency,"[X-linked MSMD due to IKBKG deficiency, X-linked MSMD due to NEMO deficiency, X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency]",,[300636],,,,,NF-kappa B Essential Modulator Deficiency,TRUE,FALSE,Active +GARD:12916,Active,Orphanet,ORPHA:71275,Disorder,[Disease],Rh deficiency syndrome,[Rh-null syndrome],"A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the RHAG gene), while the amorph type is due to mutations at the RH locus itself.","[268150, 617970]",,,,,Rh deficiency syndrome,TRUE,FALSE,Active +GARD:12917,Legacy,GARD,,,,,,,,,,,,Multifocal avascular necrosis,FALSE,FALSE,Draft +GARD:12918,Legacy,GARD,,,,,,,,,,,,Granulomatosis con poliangeítis,TRUE,TRUE,Active +GARD:12919,Active,Orphanet,ORPHA:293181,Disorder,[Disease],Malignant migrating focal seizures of infancy,"[Epilepsy of infancy with migrating focal seizures, MMPEI, MMPSI, MPEI, MPSI, Malignant migrating partial epilepsy of infancy, Malignant migrating partial seizures of infancy, Migrating partial epilepsy of infancy, Migrating partial seizures of infancy]","A rare epileptic and developmental encephalopathy characterized by seizure onset during the first months of life, focal seizures arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability.","[614959, 613722, 615338, 616645]",,,,,Malignant migrating partial seizures of infancy,TRUE,FALSE,Active +GARD:1292,Active,Orphanet,ORPHA:1416,Disorder,[Disease],Familial calcium pyrophosphate deposition,"[Calcium pyrophosphate dihydrate crystal deposition disease, Familial CC, Familial CPPD, Familial articular chondrocalcinosis, Hereditary CC, Hereditary articular chondrocalcinosis, Hereditary calcium pyrophosphate deposition]","A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA).","[600668, 118600]",,,,,Chondrocalcinosis 2,TRUE,FALSE,Active +GARD:12920,Legacy,GARD,,,,,,,,,,,,Pulmonary embolism,FALSE,FALSE,Draft +GARD:12921,Active,Orphanet,ORPHA:79406,Disorder,[Disease],Late-onset junctional epidermolysis bullosa,"[Epidermolysis bullosa progressiva, JEB-lo, Late-onset JEB]","A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries.",,,,,,Late-onset junctional epidermolysis bullosa,TRUE,FALSE,Active +GARD:12922,Active,Orphanet,ORPHA:79402,Disorder,[Disease],Intermediate generalized junctional epidermolysis bullosa,"[Generalized atrophic benign epidermolysis bullosa, Generalized junctional epidermolysis bullosa, non-Herlitz type, Intermediate generalized JEB, Junctional epidermolysis bullosa generalisata mitis, Junctional epidermolysis bullosa, Disentis type]","A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.",[226650],,,,,"Generalized junctional epidermolysis bullosa, non-Herlitz type",TRUE,FALSE,Active +GARD:12923,Active,Orphanet,ORPHA:251393,Disorder,[Disease],Localized junctional epidermolysis bullosa,"[JEB-nH loc, Junctional epidermolysis bullosa, non-Herlitz localized type, Localized JEB]","A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.",[226650],,,,,"Localized junctional epidermolysis bullosa, non-Herlitz type",TRUE,FALSE,Active +GARD:12924,Active,Orphanet,ORPHA:275555,Disorder,[Disease],Preeclampsia,,"A hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.","[614595, 609404, 609402, 609403, 189800]",,,,,Preeclampsia,TRUE,FALSE,Draft +GARD:12925,Active,Orphanet,ORPHA:199276,Disorder,[Disease],Familial multiple lipomatosis,,"Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.",[151900],,,,,Familial multiple lipomatosis,TRUE,FALSE,Active +GARD:12926,Legacy,GARD,,,,,,,,,,,,Esclerodermia,FALSE,TRUE,Active +GARD:12927,Active,Orphanet,ORPHA:90059,Disorder,[Particular clinical situation in a disease or syndrome],Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma,,,,,,,,Sudden sensorineural hearing loss,TRUE,FALSE,Active +GARD:12928,Active,Orphanet,ORPHA:94,Group of disorders,[Clinical group],Astrocytoma,[Astrocytic tumor],A complex group of benign and malignant cerebral tumors arising at any age.,[137800],,,,,Astrocytoma,TRUE,FALSE,Draft +GARD:12929,Legacy,GARD,,,,,,,,,,,,Hereditary hemorrhagic telangiectasia type 1,TRUE,FALSE,Draft +GARD:12930,Legacy,GARD,,,,,,,,,,,,Anonychia congenita,TRUE,FALSE,Active +GARD:12931,Active,Orphanet,ORPHA:404448,Disorder,[Malformation syndrome],ADNP syndrome,"[ADNP-related syndromic intellectual disability-autism spectrum disorder, HVDAS, Helsmoortel-Van Der Aa Syndrome]","A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.",[615873],,,,,ADNP syndrome,TRUE,FALSE,Active +GARD:12932,Legacy,GARD,,,,,,,,,,,,Loss-of-function variants in HIVEP2,FALSE,FALSE,Retired +GARD:12933,Legacy,GARD,,,,,,,,,,,,Anemia de Diamond-Blackfan,TRUE,TRUE,Active +GARD:12934,Legacy,GARD,,,,,,,,,,,,Síndrome de inmunodesregulación - poliendocrinopatía - enteropatía ligada a X,TRUE,TRUE,Active +GARD:12935,Legacy,GARD,,,,,,,,,,,,Holoprosencefalia,TRUE,TRUE,Active +GARD:12936,Legacy,GARD,,,,,,,,,,,,Uterus didelphys,FALSE,FALSE,Draft +GARD:12937,Legacy,GARD,,,,,,,,,,,,Lance-Adams syndrome,FALSE,FALSE,Draft +GARD:12938,Legacy,GARD,,,,,,,,,,,,Higroma quístico,TRUE,FALSE,Draft +GARD:12939,Legacy,GARD,,,,,,,,,,,,Juvenile spondyloarthropathy,TRUE,FALSE,Active +GARD:1294,Legacy,GARD,,,,,,,,,,,,Lethal recessive chondrodysplasia,TRUE,FALSE,Active +GARD:12940,Legacy,GARD,,,,,,,,,,,,IRF6-Related disorders,TRUE,FALSE,Active +GARD:12941,Legacy,GARD,,,,,,,,,,,,Nuclear gene-encoded Leigh syndrome,TRUE,FALSE,Active +GARD:12942,Legacy,GARD,,,,,,,,,,,,Hypophosphatemic,TRUE,FALSE,Retired +GARD:12943,Active,Orphanet,ORPHA:89936,Disorder,[Disease],X-linked hypophosphatemia,"[X-linked hypophosphatemic rickets, XLH]","X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.",[307800],,,,,X-linked hypophosphatemia,TRUE,FALSE,Active +GARD:12944,Legacy,GARD,,,,,,,,,,,,Enfermedad de Charcot-Marie-Tooth tipo 4,TRUE,TRUE,Active +GARD:12945,Legacy,GARD,,,,,,,,,,,,Síndrome de Leigh,TRUE,TRUE,Active +GARD:12946,Legacy,GARD,,,,,,,,,,,,optic nerve drusen,FALSE,FALSE,Draft +GARD:12947,Legacy,GARD,,,,,,,,,,,,Síndrome de Johanson-Blizzard,TRUE,TRUE,Active +GARD:12948,Legacy,GARD,,,,,,,,,,,,Síndrome SHORT,TRUE,TRUE,Active +GARD:12949,Active,Orphanet+OMIM,OMIM:613477,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 5,"[Epileptic encephalopathy, early infantile, 5]","Developmental and epileptic encephalopathy-5 (DEE5) is a neurologic disorder characterized by global developmental delay and the onset of tonic seizures or infantile spasms in the first months of life. The seizures tend to be refractory to treatment, and EEG shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severely impaired psychomotor development with lack of visual attention, poor head control, feeding difficulties, microcephaly, and spastic quadriplegia. Brain imaging may show cerebral atrophy and hypomyelination (summary by {4:Saitsu et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}.",[613477],[3451],[Infantile spasms syndrome],[7887],,Early infantile epileptic encephalopathy 5,FALSE,FALSE,Draft +GARD:12953,Legacy,GARD,,,,,,,,,,,,Myalgic encephalomyelitis,FALSE,FALSE,Retired +GARD:12954,Legacy,GARD,,,,,,,,,,,,Confluent and reticulated papillomatosis,FALSE,FALSE,Draft +GARD:12955,Legacy,GARD,,,,,,,,,,,,Lichen planus,FALSE,FALSE,Draft +GARD:12957,Legacy,GARD,,,,,,,,,,,,Neisseria Elongata,FALSE,FALSE,Draft +GARD:12958,Active,Orphanet+OMIM,OMIM:613652,Subtype of disorder,[Disease subtype],C1q deficiency,,"C1q deficiency is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see {152700}) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by {16:Topaloglu et al., 1996} and {17:Vassallo et al., 2007}).",[613652],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,C1q deficiency,TRUE,FALSE,Active +GARD:12959,Active,Orphanet,ORPHA:182058,Group of disorders,[Clinical group],Primary orthostatic hypotension,,,,,,,,Primary orthostatic hypotension,TRUE,FALSE,Active +GARD:1296,Active,Orphanet,ORPHA:79345,Disorder,[Malformation syndrome],Brachytelephalangic chondrodysplasia punctata,,"Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.","[302950, 602497]",,,,,"Chondrodysplasia punctata 1, X-linked recessive",TRUE,FALSE,Active +GARD:12960,Legacy,GARD,,,,,,,,,,,,Síndrome HELLP,TRUE,TRUE,Active +GARD:12961,Legacy,GARD,,,,,,,,,,,,Calcium hydroxyapatite deposition disease,FALSE,FALSE,Draft +GARD:12962,Legacy,GARD,,,,,,,,,,,,Síndrome de duplicación 22q11.2,TRUE,TRUE,Active +GARD:12963,Active,Orphanet,ORPHA:352328,Disorder,[Disease],MEGDEL syndrome,"[3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome, 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome]","MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.",[614739],,,,,MEGDEL syndrome,TRUE,FALSE,Active +GARD:12964,Active,Orphanet,ORPHA:66634,Disorder,[Disease],Dilated cardiomyopathy with ataxia,"[3-methylglutaconic aciduria type 5, DCMA syndrome, MGA5]","Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.",[610198],,,,,DCMA syndrome,TRUE,FALSE,Active +GARD:12965,Legacy,GARD,,,,,,,,,,,,TMEM70 defect,TRUE,FALSE,Active +GARD:12966,Active,Orphanet,ORPHA:289902,Group of disorders,[Clinical group],3-methylglutaconic aciduria,,,,,,,,3-methylglutaconic aciduria,TRUE,FALSE,Draft +GARD:12967,Legacy,GARD,,,,,,,,,,,,Reticulohistiocytoma,TRUE,FALSE,Active +GARD:12968,Legacy,GARD,,,,,,,,,,,,Variantes del gen MTHFR,FALSE,TRUE,Active +GARD:12969,Legacy,GARD,,,,,,,,,,,,Histiocytic sarcoma,FALSE,FALSE,Draft +GARD:12970,Legacy,GARD,,,,,,,,,,,,Queratocono,TRUE,TRUE,Active +GARD:12971,Legacy,GARD,,,,,,,,,,,,Ataxia telangiectasia,TRUE,TRUE,Active +GARD:12972,Legacy,GARD,,,,,,,,,,,,Colestasis intrahepática del embarazo,TRUE,TRUE,Active +GARD:12973,Legacy,GARD,,,,,,,,,,,,Madelung deformity,TRUE,FALSE,Active +GARD:12974,Legacy,GARD,,,,,,,,,,,,Lipedematous Scalp,TRUE,FALSE,Active +GARD:12975,Legacy,GARD,,,,,,,,,,,,Cuero cabelludo lipedematoso,TRUE,TRUE,Active +GARD:12976,Active,Orphanet,ORPHA:319558,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,"[MSMD due to complete IL12B deficiency, MSMD due to complete interleukin 12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency]",Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.,[614890],,,,,IL12B deficiency,TRUE,FALSE,Draft +GARD:12977,Active,Orphanet,ORPHA:748,Group of disorders,[Clinical group],Mendelian susceptibility to mycobacterial diseases,"[Idiopathic infection caused by BCG or atypical mycobacteria, MSMD, Mendelian susceptibility to atypical mycobacteria, Mendelian susceptibility to mycobacterial infections]","Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.",,,,,,Mendelian susceptibility to mycobacterial diseases,TRUE,FALSE,Active +GARD:12978,Active,Orphanet,ORPHA:401768,Disorder,[Disease],Proximal myopathy with extrapyramidal signs,,"Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.",[615673],,,,,Myopathy with extrapyramidal signs,TRUE,FALSE,Active +GARD:12979,Legacy,GARD,,,,,,,,,,,,Cutis laxa,TRUE,TRUE,Active +GARD:1298,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia punctata Sheffield type,TRUE,FALSE,Active +GARD:12980,Active,Orphanet,ORPHA:529468,Disorder,[Disease],Monoclonal mast cell activation syndrome,[Monoclonal MCAD],"A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others.",,,,,,Monoclonal mast cell activation syndrome,TRUE,FALSE,Active +GARD:12981,Legacy,GARD,,,,,,,,,,,,Mast cell activation syndrome,TRUE,FALSE,Active +GARD:12982,Legacy,GARD,,,,,,,,,,,,"Alacrima, achalasia, and mental retardation syndrome",FALSE,FALSE,Retired +GARD:12983,Active,Orphanet,ORPHA:90045,Disorder,[Disease],Hereditary folate malabsorption,[Congenital folate malabsorption],"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.",[229050],,,,,Hereditary folate malabsorption,TRUE,FALSE,Active +GARD:12984,Legacy,GARD,,,,,,,,,,,,Displasia cleidocraneal,TRUE,TRUE,Draft +GARD:12985,Legacy,GARD,,,,,,,,,,,,Abdominal wall defect,FALSE,FALSE,Draft +GARD:12986,Active,Orphanet,ORPHA:99901,Disorder,[Disease],Acyl-CoA dehydrogenase 9 deficiency,[ACAD9 deficiency],"A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain.",[611126],,,,,ACAD9 deficiency,TRUE,FALSE,Draft +GARD:12987,Active,Orphanet,ORPHA:314381,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 6,"[Familial dysautonomia with contractures, HSAN6, Hereditary sensory and autonomic neuropathy type VI]",,[614653],,,,,Hereditary sensory and autonomic neuropathy type 6,TRUE,FALSE,Draft +GARD:12988,Legacy,GARD,,,,,,,,,,,,retinal scarring,FALSE,FALSE,Draft +GARD:12989,Legacy,GARD,,,,,,,,,,,,X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome,FALSE,FALSE,Retired +GARD:1299,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia situs inversus imperforate anus polydactyly,TRUE,FALSE,Active +GARD:12990,Legacy,GARD,,,,,,,,,,,,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,FALSE,FALSE,Draft +GARD:12991,Active,Orphanet,ORPHA:498359,Disorder,[Disease],Aquagenic palmoplantar keratoderma,"[Aquagenic keratoderma, Aquagenic syringeal acrokeratoderma, Aquagenic wrinkling of the palms, Transient reactive papulotranslucent acrokeratoderma]","A rare skin disease characterized by transient wrinkling of the skin, edema, formation of whitish papules, pruritus, burning sensation, or pain, on the palms and/or soles in response to contact with water. Duration of exposure and water temperature affect the rate of development and intensity of the lesions. The condition is more common in females than in males and frequently occurs in patients with cystic fibrosis.",,,,,,Aquagenic syringeal acrokeratoderma,TRUE,FALSE,Active +GARD:12992,Legacy,GARD,,,,,,,,,,,,Leptomeningeal carcinoma,FALSE,FALSE,Retired +GARD:12993,Legacy,GARD,,,,,,,,,,,,Síndrome SeSAME,TRUE,TRUE,Active +GARD:12994,Legacy,GARD,,,,,,,,,,,,Craniofacial microsomia,TRUE,FALSE,Active +GARD:12995,Legacy,GARD,,,,,,,,,,,,hypertension,FALSE,FALSE,Retired +GARD:12996,Legacy,GARD,,,,,,,,,,,,SCN1A-related seizure disorders,TRUE,FALSE,Active +GARD:12997,Legacy,GARD,,,,,,,,,,,,Epilepsia relacionada al gen SCN1A,TRUE,TRUE,Active +GARD:12998,Legacy,GARD,,,,,,,,,,,,Acquired hemophagocytic lymphohistiocytosis,FALSE,FALSE,Active +GARD:12999,Legacy,GARD,,,,,,,,,,,,MED13L haploinsufficiency syndrome,TRUE,FALSE,Active +GARD:13,Active,Orphanet,ORPHA:1065,Disorder,[Malformation syndrome],Aniridia-cerebellar ataxia-intellectual disability syndrome,[Gillespie syndrome],"A rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.",[206700],,,,,Gillespie syndrome,TRUE,FALSE,Active +GARD:130,Legacy,GARD,,,,,,,,,,,,Florid cystic endosalpingiosis of the uterus,TRUE,FALSE,Active +GARD:1300,Active,Orphanet,ORPHA:2098,Disorder,[Malformation syndrome],"Acromesomelic dysplasia, Grebe type","[Chondrodysplasia, Grebe type]","A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.",[200700],,,,,"Chondrodysplasia, Grebe type",TRUE,FALSE,Active +GARD:13000,Legacy,GARD,,,,,,,,,,,,Chromosome 18q deletion,TRUE,FALSE,Active +GARD:13001,Legacy,GARD,,,,,,,,,,,,Síndrome de Schwartz Jampel,TRUE,TRUE,Active +GARD:13002,Legacy,GARD,,,,,,,,,,,,Costochondritis,FALSE,FALSE,Retired +GARD:13003,Active,Orphanet,ORPHA:90283,Disorder,[Disease],Lupus erythematosus tumidus,[Intermittent cutaneous lupus],"A rare form of chronic cutaneous lupus erythematosus characterized by extreme photosensitivity with intermittent formation of erythematous, edematous, urticarial-like, smooth plaques on sun-exposed skin areas. The lesions heal without scarring. The course of the disease is benign, and development of systemic lupus erythematosus is infrequent. Most patients do not have lupus-related autoantibodies. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and increased dermal mucin deposition without involvement of the dermoepidermal junction.",,,,,,Lupus erythematosus tumidus,TRUE,FALSE,Active +GARD:13004,Active,Orphanet,ORPHA:890,Disorder,[Disease],Hepatic veno-occlusive disease,[Sinusoidal obstruction syndrome],"A rare vascular liver disease characterized by toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins and sinusoids. Clinical manifestations include painful hepatomegaly, jaundice, and fluid retention that manifests by weight gain, edemas, and ascites.",,,,,,Hepatic veno-occlusive disease,TRUE,FALSE,Active +GARD:13005,Legacy,GARD,,,,,,,,,,,,retinal detachment,FALSE,FALSE,Retired +GARD:13006,Legacy,GARD,,,,,,,,,,,,Hypomagnesemia,FALSE,FALSE,Retired +GARD:13007,Active,Orphanet,ORPHA:330041,Disorder,[Disease],Hemoglobin M disease,[M hemoglobinopathy],"A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.","[617971, 617973]",,,,,"Methemoglobinemia, beta-globin type",TRUE,FALSE,Active +GARD:13009,Legacy,GARD,,,,,,,,,,,,Tornwaldt’s cyst,FALSE,FALSE,Draft +GARD:1301,Active,Orphanet,ORPHA:289,Disorder,[Malformation syndrome],Ellis Van Creveld syndrome,"[Chondroectodermal dysplasia, Mesodermic dysplasia]","A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.","[618123, 225500, 617088]",,,,,Ellis-Van Creveld syndrome,TRUE,FALSE,Active +GARD:13010,Legacy,GARD,,,,,,,,,,,,Síndrome de Costello,TRUE,TRUE,Active +GARD:13011,Active,Orphanet,ORPHA:156152,Group of disorders,[Clinical group],Anti-neutrophil cytoplasmic antibody-associated vasculitis,"[AAV, ANCA-associated vasculitis, Antineutrophil cytoplasmic antibody-associated vasculitis]",,,,,,,ANCA-associated vasculitis,TRUE,FALSE,Active +GARD:13013,Legacy,GARD,,,,,,,,,,,,Elizabethkingia anophelis infection,TRUE,FALSE,Active +GARD:13015,Active,Orphanet,ORPHA:66628,Subtype of disorder,[Etiological subtype],Obesity due to congenital leptin deficiency,,Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.,[614962],,,,,Obesity due to congenital leptin deficiency,TRUE,FALSE,Active +GARD:13016,Active,Orphanet,ORPHA:238569,Disorder,[Disease],Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,"[IL10-related early-onset IBD, IL10-related early-onset inflammatory bowel disease]","A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.","[612567, 613148]",,,,,Autosomal recessive early-onset inflammatory bowel disease,TRUE,FALSE,Active +GARD:13017,Legacy,GARD,,,,,,,,,,,,Infección del virus Zika,TRUE,TRUE,Active +GARD:13018,Legacy,GARD,,,,,,,,,,,,10q22.3q23 microdeletion syndrome,TRUE,FALSE,Active +GARD:13019,Active,Orphanet+OMIM,OMIM:616277,Subtype of disorder,[Disease subtype],Mitochondrial short-chain enoyl-coa hydratase 1 deficiency,,"Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by {3:Peters et al., 2014}).",[616277],[255241],[Leigh syndrome with leukodystrophy],[17238],,Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,TRUE,FALSE,Active +GARD:1302,Legacy,GARD,,,,,,,,,,,,"Chondrodysplasia punctata, humero-metacarpal type",TRUE,FALSE,Active +GARD:13020,Active,Orphanet,ORPHA:79490,Disorder,[Malformation syndrome],Microcystic lymphatic malformation,"[Capillary lymphangioma, Capillary lymphatic malformation, Cutaneous lymphangioma circumscriptum, Microcystic infiltrating lymphatic malformation, Microcystic lymphangioma, Superficial lymphangioma, Superficial lymphatic malformation]","A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Microcystic lesions consist of cysts smaller than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.",,,,,,Microcystic lymphatic malformation,TRUE,FALSE,Active +GARD:13021,Legacy,GARD,,,,,,,,,,,,Central nervous system germ cell tumor,FALSE,FALSE,Draft +GARD:13022,Legacy,GARD,,,,,,,,,,,,Germ cells tumors,TRUE,FALSE,Active +GARD:13023,Legacy,GARD,,,,,,,,,,,,Alezzandrini syndrome,TRUE,FALSE,Active +GARD:13024,Legacy,GARD,,,,,,,,,,,,Síndrome de antisintetasas,TRUE,TRUE,Active +GARD:13025,Active,Orphanet,ORPHA:79414,Disorder,[Disease],Woolly hair nevus,[Wooly hair nevus],"Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.",[162900],,,,,Epidermal nevus,FALSE,FALSE,Active +GARD:13026,Legacy,GARD,,,,,,,,,,,,Nevo epidérmico,FALSE,TRUE,Active +GARD:13027,Legacy,GARD,,,,,,,,,,,,Bier spots,TRUE,FALSE,Active +GARD:13028,Legacy,GARD,,,,,,,,,,,,Dissociative seizures,TRUE,FALSE,Active +GARD:13029,Legacy,GARD,,,,,,,,,,,,Episodic angioedema with eosinophilia,TRUE,FALSE,Active +GARD:1303,Active,Orphanet,ORPHA:178,Disorder,[Disease],Chordoma,[Notochordal sarcoma],Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.,[215400],,,,,Chordoma,TRUE,FALSE,Active +GARD:13030,Active,Orphanet,ORPHA:3226,Disorder,[Malformation syndrome],Deafness-lymphedema-leukemia syndrome,"[Emberger syndrome, Hearing loss-lymphedema-leukemia syndrome]","A rare genetic disease characterized by the association of primary lymphedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing.",[614038],,,,,Deafness-lymphedema-leukemia syndrome,TRUE,FALSE,Active +GARD:13031,Legacy,GARD,,,,,,,,,,,,Tubulin-Related Cortical Dysgenesis,TRUE,FALSE,Draft +GARD:13032,Active,Orphanet,ORPHA:300570,Disorder,[Disease],Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,,"A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.",[614039],,,,,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,TRUE,FALSE,Active +GARD:13033,Legacy,GARD,,,,,,,,,,,,aphasia,FALSE,FALSE,Retired +GARD:13034,Active,Orphanet,ORPHA:97253,Group of disorders,[Category],Neuroendocrine tumor of pancreas,"[PNET, Pancreatic NET, Pancreatic neuroendocrine tumor, Well-differentiated NEN of pancreas, Well-differentiated neuroendocrine neoplasm of pancreas, Well-differentiated pancreatic NEN, Well-differentiated pancreatic neuroendocrine neoplasm]","Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms).",,,,,,Pancreatic neuroendocrine tumor,TRUE,FALSE,Active +GARD:13035,Legacy,GARD,,,,,,,,,,,,Neonatal abstinence syndrome,FALSE,FALSE,Retired +GARD:13037,Legacy,GARD,,,,,,,,,,,,Miastenia grave,TRUE,TRUE,Active +GARD:13038,Legacy,GARD,,,,,,,,,,,,Endometrial Serous Adenocarcinoma,FALSE,FALSE,Draft +GARD:13039,Legacy,GARD,,,,,,,,,,,,Urothelial carcinoma,FALSE,FALSE,Draft +GARD:13040,Active,Orphanet,ORPHA:542592,Disorder,[Disease],Necrobiosis lipoidica,[Oppenheim-Urbach disease],"A rare skin disease characterized by enlarging, annular plaques with red-brown edges and atrophic, yellow-brown, telangiectatic centers. The lesions are commonly asymptomatic, but affected skin areas may be fragile, and painful ulcerations develop in many cases. In rare cases, development of squamous cell carcinoma within longstanding lesions has been reported. The lower legs, especially the shins, are the most frequently involved site. The condition is often associated with diabetes mellitus.",,,,,,Necrobiosis lipoidica,TRUE,FALSE,Active +GARD:13041,Active,Orphanet+OMIM,OMIM:612304,Subtype of disorder,[Disease subtype],"Thrombophilia due to protein c deficiency, autosomal recessive","[Protein c deficiency, autosomal recessive, proc deficiency, autosomal recessive]","Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia ({10:Millar et al., 2000}).",[612304],[745],[Severe hereditary thrombophilia due to congenital protein C deficiency],[16544],,Autosomal recessive protein C deficiency,TRUE,FALSE,Active +GARD:13042,Legacy,GARD,,,,,,,,,,,,Multicentric carpotarsal osteolysis syndrome,TRUE,FALSE,Active +GARD:13043,Active,Orphanet,ORPHA:329224,Disorder,[Malformation syndrome],Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome,[PACS1-related syndrome],"Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed.",[615009],,,,,PACS1-related syndrome,TRUE,FALSE,Active +GARD:13044,Legacy,GARD,,,,,,,,,,,,Epidermoid brain cyst,TRUE,FALSE,Active +GARD:13045,Legacy,GARD,,,,,,,,,,,,Dystonia syndrome,FALSE,FALSE,Retired +GARD:13046,Active,Orphanet,ORPHA:363976,Disorder,[Disease],Giant cell tumor of bone,"[GCT of bone, Osteoclastoma]","A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells), mononuclear macrophages, and mononuclear stromal cells which secrete pro-myeloid and pro-osteoclastic factors. Metastasis and malignant transformation are rare, but the recurrence rate is high.",,,,,,Giant cell tumor of bone,TRUE,FALSE,Active +GARD:13047,Active,Orphanet,ORPHA:363504,Group of disorders,[Category],Germ cell tumor of testis,[Testicular germ cell tumor],,[273300],,,,,Testicular germ cell tumor,TRUE,FALSE,Active +GARD:13048,Legacy,GARD,,,,,,,,,,,,Nevus comedonicus,TRUE,FALSE,Active +GARD:13049,Legacy,GARD,,,,,,,,,,,,Neuropatía óptica hereditaria de Leber,TRUE,TRUE,Active +GARD:1305,Active,Orphanet,ORPHA:1429,Disorder,[Disease],Benign hereditary chorea,"[BHC, Benign familial chorea]","A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.","[215450, 118700]",,,,,Benign hereditary chorea,TRUE,FALSE,Active +GARD:13050,Legacy,GARD,,,,,,,,,,,,Pituitary macroadenoma,FALSE,FALSE,Retired +GARD:13051,Legacy,GARD,,,,,,,,,,,,Amaurosis congénita de Leber,TRUE,TRUE,Active +GARD:13052,Legacy,GARD,,,,,,,,,,,,Deficiencia de LCHAD,TRUE,TRUE,Active +GARD:13053,Legacy,GARD,,,,,,,,,,,,Mitochondrial DNA Deletion Syndromes,TRUE,FALSE,Draft +GARD:13054,Legacy,GARD,,,,,,,,,,,,Urticaria acuagénica,TRUE,TRUE,Active +GARD:13055,Legacy,GARD,,,,,,,,,,,,Prurito acuagénico,TRUE,TRUE,Active +GARD:13056,Active,Orphanet,ORPHA:86816,Disorder,[Disease],Congenital analbuminemia,,Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).,[616000],,,,,Congenital analbuminemia,TRUE,FALSE,Active +GARD:13057,Legacy,GARD,,,,,,,,,,,,Lymphatic malformation,FALSE,FALSE,Retired +GARD:13058,Active,Orphanet,ORPHA:65743,Disorder,[Malformation syndrome],Autosomal dominant multiple pterygium syndrome,[Distal arthrogryposis type 8],"A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.",[178110],,,,,Autosomal dominant multiple pterygium syndrome,TRUE,FALSE,Active +GARD:13059,Active,Orphanet,ORPHA:329457,Disorder,[Disease],Distal arthrogryposis type 5D,"[DA5D, Distal arthrogryposis type 5 without ophthalmoparesis, Distal arthrogryposis type 5 without ophthalmoplegia]","Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.",[615065],,,,,Distal arthrogryposis type 5D,TRUE,FALSE,Active +GARD:1306,Legacy,GARD,,,,,,,,,,,,Choreoacanthocytosis amyotrophic,TRUE,FALSE,Active +GARD:13060,Active,Orphanet,ORPHA:439218,Disorder,[Disease],KCNQ2-related epileptic encephalopathy,"[KCNQ2-NEE, KCNQ2-related neonatal epileptic encephalopathy]","KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.",[613720],,,,,KCNQ2-Related Disorders,TRUE,FALSE,Active +GARD:13062,Legacy,GARD,,,,,,,,,,,,Enfermedades relacionadas al gen KCNQ2,TRUE,TRUE,Active +GARD:13063,Active,Orphanet,ORPHA:217008,Disorder,[Malformation syndrome],Bockenheimer syndrome,[Genuine diffuse phlebectasia],"A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur.",,,,,,Genuine diffuse phlebectasia,TRUE,FALSE,Active +GARD:13064,Legacy,GARD,,,,,,,,,,,,Artropatía pseudoreumatoide progresiva infantil,TRUE,TRUE,Active +GARD:13067,Legacy,GARD,,,,,,,,,,,,Enfermedad de Gerstmann-Straussler-Scheinker,TRUE,TRUE,Active +GARD:13068,Legacy,GARD,,,,,,,,,,,,Secuencia de Pierre Robin,TRUE,TRUE,Active +GARD:13070,Active,Orphanet,ORPHA:48162,Subtype of disorder,[Clinical subtype],Lewis-Sumner syndrome,"[MADSAM, Multifocal acquired demyelinating sensory and motor neuropathy]",Lewis-Sumner syndrome (LSS) is a rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.,,,,,,Lewis-Sumner syndrome,TRUE,FALSE,Active +GARD:13071,Legacy,GARD,,,,,,,,,,,,Malignant Eye Neoplasm,FALSE,FALSE,Draft +GARD:13072,Active,Orphanet,ORPHA:30924,Disorder,[Disease],Primary hypomagnesemia with secondary hypocalcemia,"[HOMG1, HSH, Hypomagnesemia caused by selective magnesium malabsorption, Hypomagnesemia intestinal type 1, Intestinal hypomagnesemia with secondary hypocalcemia, PHSH]","Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.",[602014],,,,,Primary hypomagnesemia with secondary hypocalcemia,TRUE,FALSE,Active +GARD:13073,Active,Orphanet,ORPHA:64754,Disorder,[Disease],Nevus comedonicus syndrome,,"A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.",[617025],,,,,Nevus comedonicus syndrome,TRUE,FALSE,Active +GARD:13074,Legacy,GARD,,,,,,,,,,,,tetrology of fallot,FALSE,FALSE,Draft +GARD:13075,Active,Orphanet,ORPHA:497188,Disorder,[Disease],Diffuse intrinsic pontine glioma,[DIPG],"A rare glial tumor characterized by a highly aggressive, diffusely infiltrative pontine lesion generally occurring in children, affecting local nerve fiber tracts and spreading contiguously to involve adjacent structures, but also metastasizing within the central nervous system. Patients mostly present with a short history of symptoms, typically including the classic triad of multiple cranial neuropathies, long tract signs, and ataxia. Signs and symptoms of increased intracranial pressure may present due to obstructive hydrocephalus. Prognosis is poor and not related to histological grade.",,,,,,Diffuse intrinsic pontine glioma,TRUE,FALSE,Active +GARD:13076,Legacy,GARD,,,,,,,,,,,,Síndrome de Wernicke-Korsakoff,TRUE,TRUE,Active +GARD:13077,Legacy,GARD,,,,,,,,,,,,Malformaciones de Chiari,FALSE,TRUE,Active +GARD:13078,Legacy,GARD,,,,,,,,,,,,Ano imperforado,TRUE,TRUE,Active +GARD:13079,Legacy,GARD,,,,,,,,,,,,Telangiectasia macularis eruptive perstans,TRUE,FALSE,Active +GARD:1308,Legacy,GARD,,,,,,,,,,,,Chorioretinopathy dominant form microcephaly,TRUE,FALSE,Retired +GARD:13080,Legacy,GARD,,,,,,,,,,,,Segmental spinal dysgenesis,FALSE,FALSE,Draft +GARD:13081,Legacy,GARD,,,,,,,,,,,,Chromosome 12 pericentric inversion,FALSE,FALSE,Draft +GARD:13082,Legacy,GARD,,,,,,,,,,,,Chromosome insertion,FALSE,FALSE,Draft +GARD:13083,Legacy,GARD,,,,,,,,,,,,Liquen plano pilar,TRUE,TRUE,Active +GARD:13084,Legacy,GARD,,,,,,,,,,,,Enfermedad relacionada con IgG4,TRUE,TRUE,Active +GARD:13085,Active,Orphanet+OMIM,OMIM:614558,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 13,"[Epileptic encephalopathy, early infantile, 13]","Developmental and epileptic encephalopathy-13 (DEE13) is a neurologic disorder characterized by the onset of intractable seizures in the first year of life. Some patients may present with seizures in the first days, whereas others present later (between 2 and 7 months of age) after normal or only mild developmental delay. Affected individuals have profoundly impaired development or developmental regression after the onset of seizures, and show severe intellectual disability, poor or absent language, hypotonia, and are usually unable to walk. EEG shows variable abnormalities, including multifocal and generalized spike-wave discharges, sometimes with status epilepticus or hypsarrhythmia. Brain imaging may show cerebral atrophy (summary by {4:Ohba et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[614558],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,SCN8A encephalopathy,TRUE,FALSE,Active +GARD:13086,Legacy,GARD,,,,,,,,,,,,Enfermedad de Pelizaeus-Merzbacher,TRUE,TRUE,Active +GARD:13087,Legacy,GARD,,,,,,,,,,,,Pediatric acute-onset neuropsychiatric syndrome,TRUE,FALSE,Active +GARD:13088,Legacy,GARD,,,,,,,,,,,,Síndrome de enfermedad postorgásmica,TRUE,TRUE,Active +GARD:13089,Legacy,GARD,,,,,,,,,,,,Genetic testing result,FALSE,FALSE,Internal +GARD:1309,Legacy,GARD,,,,,,,,,,,,Choroid plexus cyst,TRUE,FALSE,Active +GARD:13090,Legacy,GARD,,,,,,,,,,,,Small Intestinal Adenocarcinoma,TRUE,FALSE,Active +GARD:13091,Legacy,GARD,,,,,,,,,,,,Enfermedad de von Willebrand,TRUE,TRUE,Active +GARD:13092,Legacy,GARD,,,,,,,,,,,,Primary spinal cord neoplasm,TRUE,FALSE,Draft +GARD:13093,Legacy,GARD,,,,,,,,,,,,OPHN1 syndrome,TRUE,FALSE,Active +GARD:13094,Legacy,GARD,,,,,,,,,,,,Leucodistrofia,TRUE,TRUE,Active +GARD:13095,Legacy,GARD,,,,,,,,,,,,Aspergillus terreus infection,FALSE,FALSE,Draft +GARD:13096,Legacy,GARD,,,,,,,,,,,,Paternal uniparental disomy of chromosome 4,FALSE,FALSE,Draft +GARD:13097,Legacy,GARD,,,,,,,,,,,,Enfermedad de Vogt-Koyanagi-Harada,TRUE,TRUE,Active +GARD:13098,Legacy,GARD,,,,,,,,,,,,Distrofia muscular de Becker,TRUE,TRUE,Active +GARD:13099,Legacy,GARD,,,,,,,,,,,,Microdeleción 15q11.2,TRUE,TRUE,Active +GARD:131,Legacy,GARD,,,,,,,,,,,,Myeloid sarcoma,TRUE,FALSE,Retired +GARD:13100,Legacy,GARD,,,,,,,,,,,,Trimetilaminuria,TRUE,TRUE,Active +GARD:13101,Active,Orphanet,ORPHA:199247,Disorder,[Disease],Corticosteroid-binding globulin deficiency,[Transcortin deficiency],"Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.",[611489],,,,,Corticosteroid-binding globulin deficiency,TRUE,FALSE,Active +GARD:13102,Legacy,GARD,,,,,,,,,,,,Síndrome de Williams,TRUE,TRUE,Active +GARD:13103,Legacy,GARD,,,,,,,,,,,,Adult T-cell leukemia/lymphoma,TRUE,FALSE,Active +GARD:13104,Legacy,GARD,,,,,,,,,,,,Fibro-adipose vascular anomaly,TRUE,FALSE,Active +GARD:13105,Active,Orphanet,ORPHA:1652,Disorder,[Disease],Dent disease,"[Dent syndrome, Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis, Renal Fanconi syndrome with nephrocalcinosis and renal stones, X-linked recessive hypercalciuric hypophosphatemic rickets, X-linked recessive nephrolithiasis]","A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria, nephrolithiasis/nephrocalcinosis, and progressive renal failure, among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal phenotype in association with CLCN5 variants, and Dent disease type 2, often characterized by the addition of extra renal manifestations in association with OCRL1 variants.","[310468, 300009, 308990, 300554, 300555]",,,,,Dent disease,TRUE,FALSE,Active +GARD:13106,Legacy,GARD,,,,,,,,,,,,Orofacial Granulomatosis,TRUE,FALSE,Active +GARD:13107,Legacy,GARD,,,,,,,,,,,,Adenosquamous carcinoma of the endometrium,TRUE,FALSE,Active +GARD:13108,Active,Orphanet,ORPHA:494433,Disorder,[Disease],MIRAGE syndrome,"[Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome, Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome]","A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed.",[617053],,,,,MIRAGE syndrome,TRUE,FALSE,Active +GARD:13109,Legacy,GARD,,,,,,,,,,,,Liposarcoma mixoide,TRUE,TRUE,Active +GARD:13110,Active,Orphanet,ORPHA:438266,Subtype of disorder,[Clinical subtype],Progressive encephalomyelitis with rigidity and myoclonus,[PERM],"A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.",[184850],,,,,Progressive encephalomyelitis with rigidity and myoclonus,TRUE,FALSE,Active +GARD:13111,Active,Orphanet,ORPHA:459033,Disorder,[Disease],Ataxia-oculomotor apraxia type 4,[AOA4],"A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.",[616267],,,,,Ataxia with oculomotor apraxia type 4,TRUE,FALSE,Active +GARD:13112,Active,Orphanet+OMIM,OMIM:615217,Subtype of disorder,[Disease subtype],Ataxia-oculomotor apraxia 3,,"AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life ({1:Al Tassan et al., 2012}).\n\nFor a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 ({208920}).",[615217],[64753],[Spinocerebellar ataxia with axonal neuropathy type 2],[12860],,Ataxia with oculomotor apraxia type 3,TRUE,FALSE,Active +GARD:13113,Active,Orphanet+OMIM,OMIM:616483,Subtype of disorder,[Disease subtype],Infantile liver failure syndrome 2,,"Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by {1:Haack et al., 2015}).\n\nFor a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 ({615438}).",[616483],[464724],[Fever-associated acute infantile liver failure syndrome],[17820],,Infantile liver failure syndrome 2,TRUE,FALSE,Active +GARD:13114,Active,Orphanet,ORPHA:370088,Disorder,[Disease],Acute infantile liver failure-multisystemic involvement syndrome,,"A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.",[615438],,,,,Infantile liver failure syndrome 1,TRUE,FALSE,Active +GARD:13115,Legacy,GARD,,,,,,,,,,,,Arthrofibrosis,FALSE,FALSE,Draft +GARD:13116,Legacy,GARD,,,,,,,,,,,,Síndrome de Poland,TRUE,TRUE,Active +GARD:13117,Legacy,GARD,,,,,,,,,,,,cerebral small vessel disease,FALSE,FALSE,Draft +GARD:13118,Legacy,GARD,,,,,,,,,,,,Trisomía del cromosoma 20,TRUE,TRUE,Active +GARD:13119,Legacy,GARD,,,,,,,,,,,,Granulomatous lobular mastitis,TRUE,FALSE,Active +GARD:1312,Legacy,GARD,,,,,,,,,,,,Choroideremia hypopituitarism,TRUE,FALSE,Active +GARD:13120,Legacy,GARD,,,,,,,,,,,,Distrofia macular viteliforme de Best,TRUE,TRUE,Active +GARD:13121,Legacy,GARD,,,,,,,,,,,,Melanoma,FALSE,FALSE,Draft +GARD:13122,Legacy,GARD,,,,,,,,,,,,hyperemesis,FALSE,FALSE,Draft +GARD:13123,Legacy,GARD,,,,,,,,,,,,Enfermedad de Hirschsprung,TRUE,TRUE,Active +GARD:13124,Active,Orphanet,ORPHA:70591,Disorder,[Disease],Chronic thromboembolic pulmonary hypertension,[CTEPH],"A rare complication of acute pulmonary embolism (PE), either symptomatic or not, that is characterized by fibrotic intravascular material occlusion of pulmonary arteries in combination with a secondary microvasculopathy of vessels less than 500 µm. The consequence is an increase in pulmonary vascular resistance (PVR) and progressive right heart failure.",[612862],,,,,Chronic thromboembolic pulmonary hypertension,TRUE,FALSE,Active +GARD:13125,Active,Orphanet,ORPHA:435651,Disorder,[Disease],CIDEC-related familial partial lipodystrophy,"[CIDEC-related FPLD, FPLD5]","A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.",[615238],,,,,"Lipodystrophy, familial partial, type 5",TRUE,FALSE,Active +GARD:13126,Active,Orphanet,ORPHA:435660,Disorder,[Disease],LIPE-related familial partial lipodystrophy,"[FPLD6, LIPE-related FPLD]","A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.",[615980],,,,,LIPE-related familial partial lipodystrophy,TRUE,FALSE,Active +GARD:13127,Legacy,GARD,,,,,,,,,,,,Neuropatía óptica isquémica anterior,TRUE,TRUE,Active +GARD:13128,Legacy,GARD,,,,,,,,,,,,Síndrome de Townes-Brocks,TRUE,TRUE,Active +GARD:1313,Active,Orphanet,ORPHA:1313,Disorder,[Disease],Infantile choroidocerebral calcification syndrome,,"A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.",[215480],,,,,Infantile choroidocerebral calcification syndrome,TRUE,FALSE,Active +GARD:13131,Legacy,GARD,,,,,,,,,,,,Hematohidrosis,TRUE,FALSE,Active +GARD:13132,Legacy,GARD,,,,,,,,,,,,Encefalopatía epiléptica infantil temprana,TRUE,TRUE,Active +GARD:13133,Legacy,GARD,,,,,,,,,,,,Posterior cerebral artery,FALSE,FALSE,Draft +GARD:13134,Legacy,GARD,,,,,,,,,,,,Posterior Cerebral Artery Stroke,FALSE,FALSE,Draft +GARD:13135,Legacy,GARD,,,,,,,,,,,,enteric neuropathy,FALSE,FALSE,Draft +GARD:13136,Active,Orphanet+OMIM,OMIM:616083,Subtype of disorder,"[Etiological subtype, Disease subtype]","Intellectual developmental disorder, autosomal dominant 30","[Mental retardation, autosomal dominant 30]",,[616083],"[436151, 178469]","[Intellectual disability-expressive aphasia-facial dysmorphism syndrome, Autosomal dominant non-syndromic intellectual disability]","[12107, 17724]",,Autosomal dominant intellectual disability 30,TRUE,FALSE,Active +GARD:13137,Active,Orphanet,ORPHA:369962,Subtype of disorder,[Clinical subtype],"Methylmalonic acidemia with homocystinuria, type cblX","[Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX, Methylmalonic aciduria with homocystinuria, type cblX]",,[309541],,,,,Methylmalonic acidemia and homocysteinemia type cblX,TRUE,FALSE,Active +GARD:13138,Legacy,GARD,,,,,,,,,,,,Pénfigo vulgar,TRUE,TRUE,Active +GARD:13139,Legacy,GARD,,,,,,,,,,,,Pénfigo vulgar,FALSE,FALSE,Retired +GARD:13140,Legacy,GARD,,,,,,,,,,,,Reactive airway dysfunction syndrome,FALSE,FALSE,Draft +GARD:13141,Legacy,GARD,,,,,,,,,,,,Enfermedad de Behçet,TRUE,TRUE,Active +GARD:13142,Active,Orphanet,ORPHA:623801,Disorder,[Disease],Acute flaccid myelitis,,,,,,,,Acute flaccid myelitis,TRUE,FALSE,Active +GARD:13145,Legacy,GARD,,,,,,,,,,,,DEAF1 mutation,FALSE,FALSE,Draft +GARD:13147,Legacy,GARD,,,,,,,,,,,,Chromosome 19p13.3 microdeletion,FALSE,FALSE,Draft +GARD:13148,Legacy,GARD,,,,,,,,,,,,appendix adenocarcinoma,TRUE,FALSE,Retired +GARD:13149,Legacy,GARD,,,,,,,,,,,,Pelvic venous congestion syndrome,FALSE,FALSE,Draft +GARD:1315,Legacy,GARD,,,,,,,,,,,,Christian Demyer Franken syndrome,TRUE,FALSE,Active +GARD:13150,Legacy,GARD,,,,,,,,,,,,Cordoma,TRUE,TRUE,Active +GARD:13151,Legacy,GARD,,,,,,,,,,,,Helicobacter pylori infection,FALSE,FALSE,Draft +GARD:13152,Legacy,GARD,,,,,,,,,,,,Carcinoma indiferenciado nasosinusal,TRUE,TRUE,Active +GARD:13153,Legacy,GARD,,,,,,,,,,,,Fungal infection,FALSE,FALSE,Draft +GARD:13154,Active,Orphanet,ORPHA:609,Disorder,[Disease],Tibial muscular dystrophy,"[Distal myopathy, Udd type, Distal titinopathy, Finnish tibial muscular dystrophy, TMD, Udd myopathy]","Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.",[600334],,,,,Tibial muscular dystrophy,TRUE,FALSE,Draft +GARD:13155,Active,Orphanet,ORPHA:441452,Subtype of disorder,[Clinical subtype],Early-onset lamellar cataract,,,"[613763, 116100, 600881]",,,,,Early-onset lamellar cataract,TRUE,FALSE,Draft +GARD:13156,Active,Orphanet,ORPHA:46484,Group of disorders,[Clinical group],Oligodendroglial tumor,,Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).,,,,,,Oligodendroglial Tumor,TRUE,FALSE,Draft +GARD:13157,Active,Orphanet,ORPHA:47044,Disorder,[Disease],Hereditary papillary renal cell carcinoma,[HPRCC],Hereditary papillary renal cell carcinoma (HPRCC) is a familial renal cancer syndrome characterised by a predisposition for developing bilateral and multifocal type 1 papillary renal carcinomas.,[605074],,,,,Hereditary papillary renal cell carcinoma,TRUE,FALSE,Draft +GARD:13158,Active,Orphanet,ORPHA:36236,Disorder,[Disease],Staphylococcal scalded skin syndrome,"[Generalized exfoliative disease, SSSS]","A rare staphylococcal toxemia caused by epidermolytic toxins of Staphylococcus aureus and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants.",,,,,,Staphylococcal scalded skin syndrome,TRUE,FALSE,Draft +GARD:13159,Legacy,GARD,,,,,,,,,,,,Familial isolated dilated cardiomyopathy,TRUE,FALSE,Draft +GARD:1316,Legacy,GARD,,,,,,,,,,,,Christian Johnson Angenieta syndrome,TRUE,FALSE,Active +GARD:13160,Active,Orphanet,ORPHA:177,Disorder,[Disease],Rhizomelic chondrodysplasia punctata,[RCDP],"A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures.","[222765, 215100, 600121, 616716]",,,,,Rhizomelic chondrodysplasia punctata,TRUE,FALSE,Active +GARD:13161,Legacy,GARD,,,,,,,,,,,,Panhypopituitarism,TRUE,FALSE,Draft +GARD:13162,Legacy,GARD,,,,,,,,,,,,PROP1-Related Combined Pituitary Hormone Deficiency,TRUE,FALSE,Draft +GARD:13163,Active,Orphanet,ORPHA:293355,Group of disorders,[Clinical group],Methylmalonic acidemia without homocystinuria,[Methylmalonic aciduria without homocystinuria],Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.,,,,,,Methylmalonic acidemia without homocystinuria,TRUE,FALSE,Active +GARD:13164,Legacy,GARD,,,,,,,,,,,,Vitamin B12-unresponsive methylmalonic acidemia,TRUE,FALSE,Retired +GARD:13165,Legacy,GARD,,,,,,,,,,,,Congenital cavernous malformation of the spine,FALSE,FALSE,Internal +GARD:13166,Legacy,GARD,,,,,,,,,,,,Enfermedad granulomatosa crónica,TRUE,TRUE,Active +GARD:13167,Active,Orphanet,ORPHA:411788,Disorder,[Disease],Familial isolated trichomegaly,,"Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.",[190330],,,,,Familial isolated trichomegaly,TRUE,FALSE,Draft +GARD:13168,Active,Orphanet,ORPHA:454887,Disorder,[Disease],Corticobasal syndrome,,"A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.",,,,,,Corticobasal syndrome,TRUE,FALSE,Draft +GARD:13169,Active,Orphanet,ORPHA:263463,Disorder,[Disease],CHST3-related skeletal dysplasia,"[Chondrodysplasia with congenital joint dislocations, CHST3 type, SDCD, CHST3 type, Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type]","CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.",[143095],,,,,CHST3-related skeletal dysplasia,TRUE,FALSE,Active +GARD:13170,Legacy,GARD,,,,,,,,,,,,Xp22.3 microdeletion syndrome,TRUE,FALSE,Active +GARD:13171,Active,Orphanet,ORPHA:448242,Disorder,[Malformation syndrome],Autosomal recessive brachyolmia,"[Brachyolmia, Hobaek/Toledo type]","Brachyolmia, recessive type is a form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.","[271530, 271630]",,,,,Autosomal recessive brachyolmia,TRUE,FALSE,Draft +GARD:13172,Legacy,GARD,,,,,,,,,,,,Colon Signet Ring Cell Adenocarcinoma,TRUE,FALSE,Draft +GARD:13173,Active,Orphanet,ORPHA:639,Disorder,[Disease],Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG,"[Anti-MAG neuropathy, Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein]","A demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.",,,,,,Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG,TRUE,FALSE,Draft +GARD:13174,Active,Orphanet+OMIM,OMIM:157640,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1","[Progressive external ophthalmoplegia, autosomal dominant 1]","Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({3:Filosto et al., 2003}; {11:Luoma et al., 2004}).\n\nPEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes ({7:Lamantea et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA Deletions\n\nSee also PEOA2 ({609283}), caused by mutation in the ANT1 gene (SLC25A4; {103220}) on chromosome 4q34; PEOA3 ({609286}), caused by mutation in the TWNK gene ({606075}) on chromosome 10q24; PEOA4 ({610131}), caused by mutation in the POLG2 gene ({604983}) on chromosome 17q; PEOA5 ({613077}), caused by mutation in the RRM2B gene ({604712}) on chromosome 8q23; and PEOA6 ({615156}), caused by mutation in the DNA2 gene ({601810}) on chromosome 10q.",[157640],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,Autosomal dominant progressive external ophthalmoplegia,TRUE,FALSE,Draft +GARD:13175,Active,Orphanet,ORPHA:319319,Disorder,[Disease],Renal medullary carcinoma,,"Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.",,,,,,Renal medullary carcinoma,TRUE,FALSE,Active +GARD:13176,Legacy,GARD,,,,,,,,,,,,Insomnio familiar fatal,TRUE,TRUE,Active +GARD:13177,Active,Orphanet,ORPHA:88618,Disorder,[Disease],S-adenosylhomocysteine hydrolase deficiency,,"A rare, multisystemic inherited metabolic diseases characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.",[613752],,,,,Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency,TRUE,FALSE,Active +GARD:13178,Legacy,GARD,,,,,,,,,,,,Secondary carnitine deficiency,FALSE,FALSE,Draft +GARD:13179,Active,Orphanet+OMIM,OMIM:616977,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 43",,,[616977],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,HIVEP2-related intellectual disability,TRUE,FALSE,Active +GARD:13180,Legacy,GARD,,,,,,,,,,,,Sarna costrosa,FALSE,TRUE,Active +GARD:13181,Legacy,GARD,,,,,,,,,,,,Syndactyly,FALSE,FALSE,Active +GARD:13182,Legacy,GARD,,,,,,,,,,,,Lipomatosis simétrica múltiple,TRUE,TRUE,Active +GARD:13183,Legacy,GARD,,,,,,,,,,,,Anemia de Fanconi,TRUE,TRUE,Active +GARD:13184,Legacy,GARD,,,,,,,,,,,,Trisomy 18 mosaicism,FALSE,FALSE,Draft +GARD:13185,Legacy,GARD,,,,,,,,,,,,Parálisis periódica hipocalémica,TRUE,TRUE,Active +GARD:13186,Active,Orphanet,ORPHA:158003,Disorder,[Disease],Xanthoma disseminatum,[Montgomery syndrome],"A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision.",,,,,,Xanthoma disseminatum,TRUE,FALSE,Active +GARD:13187,Legacy,GARD,,,,,,,,,,,,Diabetes insípida central,TRUE,TRUE,Active +GARD:13188,Legacy,GARD,,,,,,,,,,,,Diabetes insípida nefrogénica,TRUE,TRUE,Active +GARD:13189,Legacy,GARD,,,,,,,,,,,,Miocardiopatía hipertrófica familiar,TRUE,TRUE,Active +GARD:1319,Active,Orphanet,ORPHA:182,Disorder,[Disease],Chromomycosis,[Chromoblastomycosis],"Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.",,,,,,Chromoblastomycosis,TRUE,FALSE,Active +GARD:13190,Legacy,GARD,,,,,,,,,,,,Síndrome de Dravet,TRUE,TRUE,Active +GARD:13191,Legacy,GARD,,,,,,,,,,,,Gastrosquisis,TRUE,TRUE,Active +GARD:13192,Legacy,GARD,,,,,,,,,,,,Chronic Granulomatous Meningitis,FALSE,FALSE,Draft +GARD:13193,Legacy,GARD,,,,,,,,,,,,Hereditary alpha tryptasemia syndrome,FALSE,FALSE,Active +GARD:13194,Legacy,GARD,,,,,,,,,,,,Síndrome de Cowden,TRUE,TRUE,Active +GARD:13195,Legacy,GARD,,,,,,,,,,,,Hemocromatosis,FALSE,TRUE,Active +GARD:13196,Legacy,GARD,,,,,,,,,,,,epidural lipomatosis,FALSE,FALSE,Draft +GARD:13197,Active,Orphanet+OMIM,OMIM:615369,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 94,"[Epileptic encephalopathy, childhood-onset]","Developmental and epileptic encephalopathy-94 (DEE94) is a severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and impaired intellectual development (summary by {1:Carvill et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615369],"[2382, 1942]","[Myoclonic-astatic epilepsy, Lennox-Gastaut syndrome]","[2169, 9912]",,CHD2 myoclonic encephalopathy,TRUE,FALSE,Active +GARD:13198,Active,Orphanet,ORPHA:500062,Disorder,[Disease],Infantile-onset periodic fever-panniculitis-dermatosis syndrome,"[ORAS, OTULIN deficiency, OTULIN-related autoinflammatory syndrome, Otulipenia]","A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection.",[617099],,,,,Otulipenia,TRUE,FALSE,Active +GARD:13199,Active,Orphanet,ORPHA:85136,Disorder,[Disease],Cystic leukoencephalopathy without megalencephaly,[CLWM],"Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.",[612951],,,,,RNAse T2-deficient leukoencephalopathy,TRUE,FALSE,Active +GARD:132,Active,Orphanet,ORPHA:137807,Group of disorders,[Clinical group],Primary cutaneous amyloidosis,"[PLCA, Primary localized cutaneous amyloidosis]","Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis (see these terms).",,,,,,Primary cutaneous amyloidosis,TRUE,FALSE,Active +GARD:1320,Active,Orphanet,ORPHA:1437,Disorder,[Malformation syndrome],Ring chromosome 1 syndrome,"[Ring 1, Ring chromosome 1, r(1) syndrome]","Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.",,,,,,Ring chromosome 1,TRUE,FALSE,Active +GARD:13200,Active,Orphanet,ORPHA:255235,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy","[mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy]","A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of hypotonia, failure to thrive, global developmental delay, and persistent lactic acidosis. The disease course is variable and ranges from intractable diarrhea and respiratory failure with fatal outcome in early infancy to a milder phenotype with survival into childhood. Additional reported features include sensorineural hearing loss, microcephaly, seizures, pigmentary retinopathy, and renal tubulopathy.",[612075],,,,,RRM2B-related mitochondrial DNA depletion syndrome,TRUE,FALSE,Active +GARD:13201,Active,Orphanet,ORPHA:401948,Disorder,[Disease],Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,[CA-VA deficiency],"A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.",[615751],,,,,Carbonic anhydrase VA deficiency,TRUE,FALSE,Active +GARD:13202,Active,Orphanet,ORPHA:88639,Disorder,[Disease],Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,"[HIBCH deficiency, Methacrylic aciduria, Valine metabolic defect]","Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.",[250620],,,,,HIBCH deficiency,TRUE,FALSE,Active +GARD:13203,Legacy,GARD,,,,,,,,,,,,Neurodegeneración con acumulación cerebral de hierro,TRUE,TRUE,Active +GARD:13204,Legacy,GARD,,,,,,,,,,,,Neurodegeneración asociada a la proteína beta-propeller,TRUE,TRUE,Active +GARD:13205,Legacy,GARD,,,,,,,,,,,,Síndrome de taquicardia postural ortostática,FALSE,TRUE,Active +GARD:13206,Active,Orphanet,ORPHA:251019,Disorder,[Malformation syndrome],2q32q33 microdeletion syndrome,"[Del(2)(q32), Del(2)(q32q33), Monosomy 2q32, Monosomy 2q32q33]","2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.",[612313],,,,,SATB2-associated syndrome,TRUE,FALSE,Active +GARD:13207,Legacy,GARD,,,,,,,,,,,,Síndrome de Marfan,TRUE,TRUE,Active +GARD:13208,Legacy,GARD,,,,,,,,,,,,Hypertrophic olivary degeneration,TRUE,FALSE,Active +GARD:13209,Active,Orphanet,ORPHA:95496,Disorder,[Morphological anomaly],Pituitary stalk interruption syndrome,"[Ectopic neurohypophysis, PSIS]","Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.",,,,,,Pituitary stalk interruption syndrome,TRUE,FALSE,Active +GARD:13210,Legacy,GARD,,,,,,,,,,,,Aracnodactilia congénita contractural,TRUE,TRUE,Active +GARD:13211,Legacy,GARD,,,,,,,,,,,,Síndrome de pterigium poplíteo,TRUE,TRUE,Active +GARD:13212,Legacy,GARD,,,,,,,,,,,,Síndrome de enclaustramiento,TRUE,TRUE,Active +GARD:13213,Legacy,GARD,,,,,,,,,,,,Síndrome del pañal azul,TRUE,TRUE,Active +GARD:13214,Legacy,GARD,,,,,,,,,,,,Displasia frontometafisaria,TRUE,TRUE,Active +GARD:13215,Active,Orphanet,ORPHA:217071,Group of disorders,[Clinical group],Renal cell carcinoma,[RCC],,,,,,,Renal cell carcinoma,TRUE,FALSE,Active +GARD:13216,Legacy,GARD,,,,,,,,,,,,Gigantismo,TRUE,TRUE,Active +GARD:13217,Legacy,GARD,,,,,,,,,,,,Acromegalia,TRUE,TRUE,Active +GARD:13218,Active,Orphanet,ORPHA:221043,Disorder,[Disease],Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,[POIKTMP syndrome],"Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.",[615704],,,,,"Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis",TRUE,FALSE,Active +GARD:13219,Active,Orphanet,ORPHA:289539,Disorder,[Disease],BAP1-related tumor predisposition syndrome,[Tumor susceptibility linked to germline BAP1 mutations],"BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.",[614327],,,,,BAP1 tumor predisposition syndrome,TRUE,FALSE,Active +GARD:1322,Active,Orphanet,ORPHA:1438,Disorder,[Malformation syndrome],Ring chromosome 10 syndrome,"[Ring 10, Ring chromosome 10]","An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.",,,,,,Ring chromosome 10,TRUE,FALSE,Active +GARD:13220,Legacy,GARD,,,,,,,,,,,,Lethal congenital contracture syndrome 11,TRUE,FALSE,Active +GARD:13221,Active,Orphanet,ORPHA:397933,Disorder,[Disease],Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,[IQSEC2-related syndromic intellectual disability],"Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes.",,,,,,IQSEC2,TRUE,FALSE,Active +GARD:13222,Active,Orphanet,ORPHA:363454,Subtype of disorder,[Etiological subtype],BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,"[BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures, SMALED2]",,[615290],,,,,"Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2",TRUE,FALSE,Active +GARD:13223,Legacy,GARD,,,,,,,,,,,,Primary bone cancer,TRUE,FALSE,Active +GARD:13224,Legacy,GARD,,,,,,,,,,,,Liver cancer,FALSE,FALSE,Draft +GARD:13225,Legacy,GARD,,,,,,,,,,,,Tonsillar rhabdomyoma,TRUE,FALSE,Draft +GARD:13226,Legacy,GARD,,,,,,,,,,,,Kidney carcinoma,FALSE,FALSE,Retired +GARD:13227,Legacy,GARD,,,,,,,,,,,,Endometriosis of the diaphragm,FALSE,FALSE,Draft +GARD:13228,Legacy,GARD,,,,,,,,,,,,Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase,TRUE,FALSE,Retired +GARD:13229,Legacy,GARD,,,,,,,,,,,,Hepatitis B virus,FALSE,FALSE,Draft +GARD:1323,Active,Orphanet,ORPHA:1580,Disorder,[Malformation syndrome],Distal monosomy 10p,"[Distal 10p deletion, Monosomy 10pter, Telomeric deletion 10p]","Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.",[601362],,,,,Chromosome 10p deletion,TRUE,FALSE,Active +GARD:13230,Legacy,GARD,,,,,,,,,,,,Urticarial vasculitis,FALSE,FALSE,Draft +GARD:13231,Legacy,GARD,,,,,,,,,,,,Síndrome de tortuosidad arterial,TRUE,TRUE,Active +GARD:13232,Active,Orphanet,ORPHA:88619,Disorder,[Disease],Familial acute necrotizing encephalopathy,"[ADANE, Recurrent acute necrotizing encephalopathy]","Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.",[608033],,,,,Infection-induced acute encephalopathy 3,TRUE,FALSE,Active +GARD:13233,Legacy,GARD,,,,,,,,,,,,Acute necrotizing encephalopathy,TRUE,FALSE,Active +GARD:13234,Legacy,GARD,,,,,,,,,,,,central sensitization syndrome,FALSE,FALSE,Draft +GARD:13235,Active,Orphanet+OMIM,OMIM:615524,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, syndromic 12","[Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects]",,[615524],[2470],[Matthew-Wood syndrome],[713],,Syndromic microphthalmia-12,TRUE,FALSE,Active +GARD:13236,Legacy,GARD,,,,,,,,,,,,Síndrome de Proteus,TRUE,TRUE,Active +GARD:13237,Active,Orphanet,ORPHA:300912,Group of disorders,[Clinical group],Marginal zone lymphoma,,,,,,,,Marginal zone lymphoma,TRUE,FALSE,Active +GARD:13238,Legacy,GARD,,,,,,,,,,,,Extracardiac Rhabdomyoma,TRUE,FALSE,Active +GARD:13239,Legacy,GARD,,,,,,,,,,,,Cardiac rhabdomyoma,TRUE,FALSE,Draft +GARD:13240,Legacy,GARD,,,,,,,,,,,,IgM nephropathy,FALSE,FALSE,Draft +GARD:13242,Legacy,GARD,,,,,,,,,,,,Síndrome de Koolen De Vries,TRUE,TRUE,Active +GARD:13243,Legacy,GARD,,,,,,,,,,,,Síndrome de abléfaron - macrostomia,TRUE,TRUE,Active +GARD:13244,Active,Orphanet,ORPHA:85293,Disorder,[Malformation syndrome],"X-linked intellectual disability, Cabezas type",[Cabezas syndrome],"An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet.",[300354],,,,,Cabezas syndrome,TRUE,FALSE,Active +GARD:13245,Legacy,GARD,,,,,,,,,,,,Síndrome de Hermansky-Pudlak,TRUE,TRUE,Active +GARD:13246,Legacy,GARD,,,,,,,,,,,,Squamoid Eccrine Ductal Carcinoma,FALSE,FALSE,Draft +GARD:13247,Legacy,GARD,,,,,,,,,,,,Síndrome urémico hemolítico atípico,TRUE,TRUE,Active +GARD:13248,Legacy,GARD,,,,,,,,,,,,Síndrome de Usher,TRUE,TRUE,Active +GARD:13249,Legacy,GARD,,,,,,,,,,,,Raynaud,FALSE,FALSE,Draft +GARD:1325,Active,Orphanet,ORPHA:1439,Disorder,[Malformation syndrome],Ring chromosome 12 syndrome,"[Ring 12, Ring chromosome 12]","Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.",,,,,,Ring chromosome 12,TRUE,FALSE,Active +GARD:13250,Legacy,GARD,,,,,,,,,,,,Nevus epidérmico verrucoso inflamatorio linear,TRUE,TRUE,Active +GARD:13251,Legacy,GARD,,,,,,,,,,,,Porfiria,TRUE,TRUE,Active +GARD:13252,Legacy,GARD,,,,,,,,,,,,Porfiria eritropoyética congénita,TRUE,TRUE,Active +GARD:13253,Legacy,GARD,,,,,,,,,,,,Enfermedad de Whipple,TRUE,TRUE,Active +GARD:13254,Legacy,GARD,,,,,,,,,,,,Skeletal-extraskeletal angiomatosis,TRUE,FALSE,Active +GARD:13255,Legacy,GARD,,,,,,,,,,,,Enfermedad no diagnosticada,FALSE,TRUE,Internal +GARD:13256,Active,Orphanet,ORPHA:449427,Subtype of disorder,[Clinical subtype],IgG4-related pachymeningitis,[Idiopathic hypertrophic pachymeningitis],"A rare, brain inflammatory disease characterized by thickening of the dura mater of the cranium or spine with at least two histiopatholgical features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestation are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness.",,,,,,Idiopathic hypertrophic pachymeningitis,TRUE,FALSE,Active +GARD:13257,Legacy,GARD,,,,,,,,,,,,hemorrhagic migraines,FALSE,FALSE,Draft +GARD:13258,Legacy,GARD,,,,,,,,,,,,Craneofaringioma,TRUE,TRUE,Active +GARD:13259,Active,Orphanet,ORPHA:352577,Disorder,[Disease],Bainbridge-Ropers syndrome,[Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome],"A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed.",[615485],,,,,Bainbridge-Ropers syndrome,TRUE,FALSE,Active +GARD:13260,Legacy,GARD,,,,,,,,,,,,Síndrome de ROHHAD,TRUE,TRUE,Active +GARD:13261,Legacy,GARD,,,,,,,,,,,,lacrimal gland carcinoma,FALSE,FALSE,Draft +GARD:13262,Legacy,GARD,,,,,,,,,,,,Síndrome de Bannayan-Riley-Ruvalcaba,TRUE,TRUE,Active +GARD:13263,Legacy,GARD,,,,,,,,,,,,KIF1A disorder,FALSE,FALSE,Draft +GARD:13264,Active,Orphanet,ORPHA:313850,Disorder,[Disease],Infantile cerebellar-retinal degeneration,,"Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.",[614559],,,,,Infantile cerebellar retinal degeneration,TRUE,FALSE,Active +GARD:13265,Legacy,GARD,,,,,,,,,,,,Sticky platelet syndrome,FALSE,FALSE,Active +GARD:13266,Legacy,GARD,,,,,,,,,,,,Síndrome de Freeman-Sheldon,TRUE,TRUE,Active +GARD:13267,Legacy,GARD,,,,,,,,,,,,Síndrome de microdeleción 2q37,TRUE,TRUE,Active +GARD:13268,Legacy,GARD,,,,,,,,,,,,C3 glomerulopathy,FALSE,FALSE,Draft +GARD:13269,Legacy,GARD,,,,,,,,,,,,Severely deficient autobiographical memory,FALSE,FALSE,Draft +GARD:1327,Active,Orphanet,ORPHA:1703,Disorder,[Malformation syndrome],Mosaic trisomy 14,"[Mosaic trisomy chromosome 14, Trisomy 14 mosaicism]","Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.",,,,,,Mosaic trisomy 14,TRUE,FALSE,Active +GARD:13270,Legacy,GARD,,,,,,,,,,,,Extranodal nasal NK/T cell lymphoma,TRUE,FALSE,Active +GARD:13271,Legacy,GARD,,,,,,,,,,,,Deficiencia de arginasa,TRUE,TRUE,Active +GARD:13272,Legacy,GARD,,,,,,,,,,,,Autosomal recessive spinocerebellar ataxia 16,FALSE,FALSE,Draft +GARD:13273,Active,Orphanet,ORPHA:284417,Subtype of disorder,[Etiological subtype],"Phosphoserine aminotransferase deficiency, infantile/juvenile form","[PSAT deficiency, infantile/juvenile form]","Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.",[610992],,,,,Phosphoserine aminotransferase deficiency,TRUE,FALSE,Active +GARD:13274,Legacy,GARD,,,,,,,,,,,,Sudden unexplained death in childhood,FALSE,FALSE,Draft +GARD:13275,Legacy,GARD,,,,,,,,,,,,Multiple food allergy,FALSE,FALSE,Draft +GARD:13276,Legacy,GARD,,,,,,,,,,,,2q32q33 microdeletion,FALSE,FALSE,Retired +GARD:13277,Legacy,GARD,,,,,,,,,,,,HaNDL syndrome,TRUE,FALSE,Active +GARD:13278,Legacy,GARD,,,,,,,,,,,,Síndrome de la deleción 22q11.2,TRUE,TRUE,Active +GARD:13279,Legacy,GARD,,,,,,,,,,,,Deficiencia de carnitina-acilcarnitina translocasa,TRUE,TRUE,Active +GARD:1328,Active,Orphanet,ORPHA:96177,Disorder,[Malformation syndrome],Ring chromosome 15 syndrome,"[Ring 15, Ring chromosome 15]","A rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).",,,,,,Ring chromosome 15,TRUE,FALSE,Active +GARD:13280,Legacy,GARD,,,,,,,,,,,,Aspergillus flavus,FALSE,FALSE,Draft +GARD:13281,Legacy,GARD,,,,,,,,,,,,Tailgut cyst,FALSE,FALSE,Draft +GARD:13282,Legacy,GARD,,,,,,,,,,,,Liquen plano oral,FALSE,TRUE,Draft +GARD:13283,Legacy,GARD,,,,,,,,,,,,Congenital pulmonary airway malf.,FALSE,FALSE,Retired +GARD:13284,Legacy,GARD,,,,,,,,,,,,Síndrome fetal del valproato,TRUE,TRUE,Active +GARD:13285,Legacy,GARD,,,,,,,,,,,,Síndrome renal del cascanueces,TRUE,TRUE,Active +GARD:13286,Legacy,GARD,,,,,,,,,,,,Trastorno del habla y del lenguaje tipo 1,TRUE,TRUE,Draft +GARD:13287,Legacy,GARD,,,,,,,,,,,,Enfermedad de Hailey-Hailey,TRUE,TRUE,Active +GARD:13288,Legacy,GARD,,,,,,,,,,,,vulvodynia,FALSE,FALSE,Draft +GARD:13289,Legacy,GARD,,,,,,,,,,,,Osmotic demyelination syndrome,FALSE,FALSE,Draft +GARD:13290,Legacy,GARD,,,,,,,,,,,,Deficiencia familiar de LCAT,TRUE,TRUE,Active +GARD:13291,Legacy,GARD,,,,,,,,,,,,Natural killer cell deficiency,FALSE,FALSE,Draft +GARD:13292,Legacy,GARD,,,,,,,,,,,,Síndrome de Hashimoto-Pritzker,TRUE,TRUE,Active +GARD:13293,Active,Orphanet,ORPHA:98885,Subtype of disorder,[Etiological subtype],Bleeding diathesis due to glycoprotein VI deficiency,,,[614201],,,,,Glycoprotein VI deficiency,TRUE,FALSE,Active +GARD:13294,Legacy,GARD,,,,,,,,,,,,Ankyrin-B syndrome,TRUE,FALSE,Active +GARD:13295,Active,Orphanet,ORPHA:98820,Disorder,[Disease],Familial focal epilepsy with variable foci,"[FFEVF, Familial partial epilepsy with variable foci]","Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.","[617118, 604364, 617116]",,,,,Familial focal epilepsy with variable foci,TRUE,FALSE,Active +GARD:13296,Active,Orphanet,ORPHA:261272,Disorder,[Malformation syndrome],17q12 microduplication syndrome,"[Dup(17)(q12), Trisomy 17q12]","17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.",[614526],,,,,17q12 duplication,TRUE,FALSE,Active +GARD:13297,Active,Orphanet,ORPHA:261265,Disorder,[Malformation syndrome],17q12 microdeletion syndrome,"[Del(17)(q12), Monosomy 17q12]","17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.",[614527],,,,,17q12 deletion syndrome,TRUE,FALSE,Active +GARD:13298,Active,Orphanet,ORPHA:369897,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies","[mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies]","A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.",[615471],,,,,FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome,TRUE,FALSE,Active +GARD:13299,Legacy,GARD,,,,,,,,,,,,DEPDC5-Related Epilepsy,TRUE,FALSE,Active +GARD:133,Legacy,GARD,,,,,,,,,,,,"Aganglionosis, total intestinal",TRUE,FALSE,Active +GARD:13300,Legacy,GARD,,,,,,,,,,,,Síndrome de West,TRUE,TRUE,Active +GARD:13301,Legacy,GARD,,,,,,,,,,,,central sleep apnea,FALSE,FALSE,Draft +GARD:13302,Legacy,GARD,,,,,,,,,,,,Mielofibrosis,TRUE,TRUE,Active +GARD:13303,Legacy,GARD,,,,,,,,,,,,oculopalatal myoclonus,FALSE,FALSE,Draft +GARD:13304,Legacy,GARD,,,,,,,,,,,,Neuralgic amyotrophy,TRUE,FALSE,Draft +GARD:13305,Legacy,GARD,,,,,,,,,,,,Síndrome de Parsonage-Turner,TRUE,TRUE,Active +GARD:13306,Legacy,GARD,,,,,,,,,,,,Síndrome del intestino corto,TRUE,TRUE,Active +GARD:13307,Legacy,GARD,,,,,,,,,,,,Necrotizing autoimmune myopathy,TRUE,FALSE,Active +GARD:13308,Legacy,GARD,,,,,,,,,,,,Síndrome de hiperinmunoglobulinemia D,TRUE,TRUE,Active +GARD:13309,Legacy,GARD,,,,,,,,,,,,Síndrome de inmunodeficiencias combinadas severas,TRUE,TRUE,Retired +GARD:13310,Legacy,GARD,,,,,,,,,,,,Duplicacion del cromosoma 1q,FALSE,TRUE,Retired +GARD:13311,Legacy,GARD,,,,,,,,,,,,Vitamin B12 deficiency,FALSE,FALSE,Draft +GARD:13312,Legacy,GARD,,,,,,,,,,,,Inmunodeficiencia combinada grave,TRUE,TRUE,Active +GARD:13313,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos tipo clásico,TRUE,TRUE,Active +GARD:13314,Legacy,GARD,,,,,,,,,,,,Displasia fibrosa,TRUE,TRUE,Active +GARD:13315,Legacy,GARD,,,,,,,,,,,,Excited delirium syndrome,FALSE,FALSE,Draft +GARD:13316,Active,Orphanet,ORPHA:398069,Disorder,[Disease],MAGEL2-related Prader-Willi-like syndrome,"[MAGEL2-related PWLS, Schaaf-Yang syndrome]",,[615547],,,,,Schaaf-Yang syndrome,TRUE,FALSE,Active +GARD:13317,Legacy,GARD,,,,,,,,,,,,Síndrome de Carey-Fineman-Ziter,TRUE,TRUE,Active +GARD:13318,Active,Orphanet+OMIM,OMIM:613722,Subtype of disorder,"[Clinical syndrome subtype, Disease subtype]",Developmental and epileptic encephalopathy 12,"[Epileptic encephalopathy, early infantile, 12]","Developmental and epileptic encephalopathy-12 (DEE12) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first year of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show severe developmental regression and stagnation. Seizure types vary: focal seizures, infantile spasms, and generalized tonic-clonic seizures may occur, even within the same patient. EEG may show hypsarrhythmia, consistent with West syndrome, or a pattern consistent with 'malignant migrating partial seizures in infancy' (MMPSI). Patients have little or no developmental progress: there is absent speech, hypotonia, poor motor skills, peripheral spasticity, and impaired visual fixation (summary by {1:Kurian et al., 2010} and {2:Poduri et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}.",[613722],"[293181, 3451]","[Infantile spasms syndrome, Malignant migrating focal seizures of infancy]","[12919, 7887]",,Early Infantile Epileptic Encephalopathy 12,TRUE,FALSE,Active +GARD:13319,Active,Orphanet,ORPHA:438178,Disorder,[Disease],Fatty acyl-CoA reductase 1 deficiency,"[FAR1 deficiency, PFCRD, Peroxisomal fatty acyl-CoA reductase 1 disorder]","A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging.",[616154],,,,,Peroxisomal fatty acyl-CoA reductase 1 disorder,TRUE,FALSE,Draft +GARD:13320,Active,Orphanet,ORPHA:468717,Subtype of disorder,[Etiological subtype],Rhizomelic chondrodysplasia punctata type 5,,,[616716],,,,,Rhizomelic chondrodysplasia punctata type 5,TRUE,FALSE,Draft +GARD:13321,Legacy,GARD,,,,,,,,,,,,Peroxisomal disorders,TRUE,FALSE,Retired +GARD:13322,Legacy,GARD,,,,,,,,,,,,Condrodisplasia punctata rizomélica,TRUE,FALSE,Active +GARD:13323,Legacy,GARD,,,,,,,,,,,,Neurodegeneración asociada a pantotenato-quinasa,TRUE,TRUE,Active +GARD:13324,Legacy,GARD,,,,,,,,,,,,Sinostosis radiocubital congénita,TRUE,TRUE,Active +GARD:13325,Legacy,GARD,,,,,,,,,,,,Duplicaciones parciales del cromosoma 1q,TRUE,TRUE,Active +GARD:13326,Legacy,GARD,,,,,,,,,,,,Parálisis periódica familiar,TRUE,TRUE,Active +GARD:13327,Legacy,GARD,,,,,,,,,,,,Displasias ectodérmicas,TRUE,TRUE,Active +GARD:13328,Legacy,GARD,,,,,,,,,,,,Reactive perforating collagenosis,FALSE,FALSE,Draft +GARD:13329,Legacy,GARD,,,,,,,,,,,,Síndrome de la nieve visual,TRUE,TRUE,Active +GARD:1333,Active,Orphanet,ORPHA:1443,Disorder,[Malformation syndrome],Ring chromosome 19 syndrome,"[Ring 19, Ring chromosome 19]","Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.",,,,,,Ring chromosome 19,TRUE,FALSE,Active +GARD:13330,Legacy,GARD,,,,,,,,,,,,Hiperplasia difusa idiopática de células neuroendocrinas pulmonares,TRUE,TRUE,Active +GARD:13331,Active,Orphanet,ORPHA:79147,Disorder,[Disease],Familial reactive perforating collagenosis,,Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.,[216700],,,,,Familial reactive perforating collagenosis,TRUE,FALSE,Active +GARD:13332,Legacy,GARD,,,,,,,,,,,,PHIP related disease,FALSE,FALSE,Retired +GARD:13333,Legacy,GARD,,,,,,,,,,,,Complejo extrofia-epispadias,TRUE,TRUE,Active +GARD:13334,Legacy,GARD,,,,,,,,,,,,Niemann-Pick disease,TRUE,FALSE,Active +GARD:13335,Legacy,GARD,,,,,,,,,,,,Síndrome de la persona rígida,TRUE,TRUE,Active +GARD:13336,Legacy,GARD,,,,,,,,,,,,Interstitial lung disease,FALSE,FALSE,Active +GARD:13337,Active,Orphanet,ORPHA:98300,Group of disorders,[Clinical group],Idiopathic interstitial pneumonia,,,,,,,,Idiopathic interstitial pneumonia,TRUE,FALSE,Draft +GARD:13338,Legacy,GARD,,,,,,,,,,,,Pott disease,FALSE,FALSE,Draft +GARD:13339,Active,Orphanet,ORPHA:464336,Disorder,[Disease],BENTA disease,[B-cell expansion with NF-kB and T-cell anergy disease],"A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.",[616452],,,,,BENTA disease,TRUE,FALSE,Active +GARD:1334,Active,Orphanet,ORPHA:1444,Disorder,[Malformation syndrome],Ring chromosome 20 syndrome,"[Ring 20, Ring chromosome 20]","A rare chromosomal disorder, characterized by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioral problems.",,,,,,Ring chromosome 20,TRUE,FALSE,Active +GARD:13340,Legacy,GARD,,,,,,,,,,,,Síndrome de Klippel Feil,TRUE,TRUE,Active +GARD:13341,Legacy,GARD,,,,,,,,,,,,Vaginal agenesis,FALSE,FALSE,Draft +GARD:13342,Legacy,GARD,,,,,,,,,,,,Lupus,FALSE,TRUE,Active +GARD:13343,Legacy,GARD,,,,,,,,,,,,Síndrome de Dandy-Walker,TRUE,TRUE,Draft +GARD:13344,Legacy,GARD,,,,,,,,,,,,Malformación de Chiari tipo 1,TRUE,TRUE,Active +GARD:13345,Legacy,GARD,,,,,,,,,,,,Chromosomal Abnormalities,FALSE,FALSE,Internal +GARD:13346,Legacy,GARD,,,,,,,,,,,,Anomalías Cromosómicas,FALSE,TRUE,Internal +GARD:13347,Legacy,GARD,,,,,,,,,,,,Diplejía espástica,TRUE,TRUE,Active +GARD:13348,Legacy,GARD,,,,,,,,,,,,pancreatic divisum,FALSE,FALSE,Draft +GARD:13349,Active,Orphanet,ORPHA:420584,Disorder,[Malformation syndrome],Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,[Culler-Jones syndrome],"Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.",[615849],,,,,Culler-Jones syndrome,TRUE,FALSE,Active +GARD:13350,Legacy,GARD,,,,,,,,,,,,fatty acid oxidation,FALSE,FALSE,Draft +GARD:13351,Legacy,GARD,,,,,,,,,,,,Xantomatosis cerebrotendinosa,TRUE,TRUE,Active +GARD:13352,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos tipo vascular,TRUE,TRUE,Active +GARD:13353,Legacy,GARD,,,,,,,,,,,,Mesenteritis esclerosante,TRUE,TRUE,Active +GARD:13354,Active,Orphanet,ORPHA:35737,Disorder,[Morphological anomaly],Morning glory disc anomaly,"[Ectasic coloboma, Morning glory syndrome]","A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies.",[120430],,,,,Morning glory syndrome,TRUE,FALSE,Active +GARD:13355,Legacy,GARD,,,,,,,,,,,,SCN2A related disorders,TRUE,FALSE,Active +GARD:13356,Legacy,GARD,,,,,,,,,,,,Non syndromic intellectual disability type 58,FALSE,FALSE,Retired +GARD:13357,Legacy,GARD,,,,,,,,,,,,Síndrome 'Morning glory',TRUE,TRUE,Active +GARD:13358,Legacy,GARD,,,,,,,,,,,,Cáncer de mama hereditario,TRUE,TRUE,Active +GARD:13359,Legacy,GARD,,,,,,,,,,,,Enfermedad de Ledderhose,TRUE,TRUE,Active +GARD:1336,Active,Orphanet,ORPHA:1446,Disorder,[Malformation syndrome],Ring chromosome 22 syndrome,"[Ring 22, Ring chromosome 22, r(22) syndrome]","Ring chromosome 22 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.",,,,,,Ring chromosome 22,TRUE,FALSE,Active +GARD:13360,Legacy,GARD,,,,,,,,,,,,Popliteal artery entrapment syndrome,FALSE,FALSE,Draft +GARD:13361,Legacy,GARD,,,,,,,,,,,,Autosomal recessive intellectual disability 58,TRUE,FALSE,Active +GARD:13362,Legacy,GARD,,,,,,,,,,,,Malformaciones linfáticas,TRUE,TRUE,Active +GARD:13363,Legacy,GARD,,,,,,,,,,,,pulmonary aveolar proteinosis,FALSE,FALSE,Draft +GARD:13364,Legacy,GARD,,,,,,,,,,,,Non-asthmatic eosinophilic bronchitis,FALSE,FALSE,Draft +GARD:13365,Legacy,GARD,,,,,,,,,,,,Distrofia muscular de cinturas autosómica recesiva tipo 2A,TRUE,TRUE,Active +GARD:13366,Legacy,GARD,,,,,,,,,,,,essential iris atrophy,FALSE,FALSE,Draft +GARD:13367,Legacy,GARD,,,,,,,,,,,,Deformidad de Madelung,TRUE,TRUE,Active +GARD:13368,Legacy,GARD,,,,,,,,,,,,Discondrosteosis de Léri-Weill,TRUE,TRUE,Active +GARD:13369,Legacy,GARD,,,,,,,,,,,,Calcium apatite deposition disease (CADD),FALSE,FALSE,Draft +GARD:13370,Legacy,GARD,,,,,,,,,,,,Histiocitosis de células de Langerhans,TRUE,TRUE,Active +GARD:13371,Active,Orphanet,ORPHA:324972,Disorder,[Disease],MAGIC syndrome,[Mouth and genital ulcers-inflamed cartilage syndrome],"A rare autoinflammatory syndrome characterized by the presence of features of relapsing polychondritis and Behçet's disease in the same individual. This includes cartilage inflammation of the ears, nose, throat, and rib cage, as well as recurrent oral and genital ulcers, respectively. Patients may also present ocular involvement (in particular anterior uveitis or scleritis), arthritis, fever, colitis, thrombophlebitis, central nervous system vasculitis, or, in rare cases, arterial aneurysms. Symptoms of polychondritis occur secondary to those of Behçet's disease in the vast majority of cases.",,,,,,MAGIC syndrome,TRUE,FALSE,Active +GARD:13372,Legacy,GARD,,,,,,,,,,,,Traumatic ulcerative granuloma,FALSE,FALSE,Draft +GARD:13373,Legacy,GARD,,,,,,,,,,,,GATA2 deficiency,TRUE,FALSE,Active +GARD:13374,Legacy,GARD,,,,,,,,,,,,Alopecia universal,TRUE,TRUE,Active +GARD:13375,Legacy,GARD,,,,,,,,,,,,Distrofia muscular de Duchenne,TRUE,TRUE,Active +GARD:13376,Active,Orphanet+OMIM,OMIM:614135,Subtype of disorder,[Disease subtype],"Epiphyseal dysplasia, multiple, 6",,,[614135],[166002],[Multiple epiphyseal dysplasia due to collagen 9 anomaly],[15024],,Multiple epiphyseal dysplasia 6,TRUE,FALSE,Active +GARD:13377,Legacy,GARD,,,,,,,,,,,,Síndrome de Weill-Marchesani,TRUE,TRUE,Active +GARD:13378,Active,Orphanet+OMIM,OMIM:615473,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 17,"[Epileptic encephalopathy, early infantile, 17]","Developmental and epileptic encephalopathy-17 (DEE17) is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life. EEG often shows a burst-suppression pattern consistent with a clinical diagnosis of Ohtahara syndrome. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by {2:Nakamura et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615473],[1934],[Early infantile epileptic encephalopathy],[9255],,GNAO1 encephalopathy,TRUE,FALSE,Active +GARD:13379,Active,Orphanet+OMIM,OMIM:616078,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 29","[Mental retardation, autosomal dominant 29]",,[616078],[436151],[Intellectual disability-expressive aphasia-facial dysmorphism syndrome],[17724],,SETBP1 disorder,TRUE,FALSE,Active +GARD:13380,Legacy,GARD,,,,,,,,,,,,benign fasciculation syndrome,FALSE,FALSE,Draft +GARD:13381,Legacy,GARD,,,,,,,,,,,,Leukoencephalopathy with thalamus and brainstem involvement and high lactate,TRUE,FALSE,Active +GARD:13382,Legacy,GARD,,,,,,,,,,,,Arteritis de células gigantes,TRUE,TRUE,Active +GARD:13383,Legacy,GARD,,,,,,,,,,,,Síndrome de microduplicación 7q11.23,TRUE,TRUE,Active +GARD:13384,Legacy,GARD,,,,,,,,,,,,Hepatopulmonary syndrome,TRUE,FALSE,Active +GARD:13385,Legacy,GARD,,,,,,,,,,,,NUT midline carcinoma,FALSE,FALSE,Draft +GARD:13386,Legacy,GARD,,,,,,,,,,,,Telangiectasia hemorrágica hereditaria,TRUE,TRUE,Active +GARD:13387,Legacy,GARD,,,,,,,,,,,,Aneurysm,FALSE,FALSE,Draft +GARD:13388,Active,Orphanet,ORPHA:528,Disorder,[Disease],Congenital generalized lipodystrophy,"[BSCL, Berardinelli-Seip congenital lipodystrophy, Berardinelli-Seip syndrome, CGL, Lipoatrophic diabetes]","A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis.","[269700, 612526, 613327, 606721, 608594]",,,,,Congenital generalized lipodystrophy,TRUE,FALSE,Active +GARD:13389,Active,Orphanet+OMIM,OMIM:612526,Subtype of disorder,[Disease subtype],"Lipodystrophy, congenital generalized, type 3","[lipodystrophy, berardinelli-seip congenital, type 3, Berardinelli-seip congenital lipodystrophy, type 3]","Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes ({1:Garg, 2004}).\n\nFor a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 ({608594}).",[612526],[528],[Congenital generalized lipodystrophy],[13388],,Congenital generalized lipodystrophy type 3,TRUE,FALSE,Active +GARD:1339,Active,Orphanet,ORPHA:1447,Disorder,[Malformation syndrome],Ring chromosome 4 syndrome,"[Ring 4, Ring chromosome 4, Syndrome r(4), r(4) syndrome]","Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.",,,,,,Ring chromosome 4,TRUE,FALSE,Active +GARD:13390,Active,Orphanet,ORPHA:94063,Disorder,[Malformation syndrome],12q14 microdeletion syndrome,"[Del(12)(q14), Deletion 12q14, Monosomy 12q14, Osteopoikilosis-short stature-intellectual disability syndrome]","12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.",,,,,,12q14 microdeletion syndrome,TRUE,FALSE,Active +GARD:13391,Active,Orphanet,ORPHA:261349,Disorder,[Malformation syndrome],2p15p16.1 microdeletion syndrome,"[Del(2)(p15p16.1), Monosomy 2p15p16.1]",2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.,[612513],,,,,2p15p16.1 microdeletion syndrome,TRUE,FALSE,Active +GARD:13392,Legacy,GARD,,,,,,,,,,,,16p13.11 microduplication syndrome,TRUE,FALSE,Active +GARD:13393,Legacy,GARD,,,,,,,,,,,,Síndrome de Culler-Jones,TRUE,TRUE,Active +GARD:13394,Legacy,GARD,,,,,,,,,,,,Myopic macular degeneration,FALSE,FALSE,Draft +GARD:13395,Legacy,GARD,,,,,,,,,,,,neurally mediated hypotension,FALSE,FALSE,Draft +GARD:13396,Legacy,GARD,,,,,,,,,,,,Síndrome de Alagille,TRUE,TRUE,Active +GARD:13397,Legacy,GARD,,,,,,,,,,,,Miotonía congénita,TRUE,TRUE,Active +GARD:13398,Legacy,GARD,,,,,,,,,,,,Cutaneous vasculitis,FALSE,FALSE,Draft +GARD:13399,Legacy,GARD,,,,,,,,,,,,Patellofemoral dysplasia,FALSE,FALSE,Draft +GARD:134,Active,Orphanet,ORPHA:93346,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia congenita, Strudwick type",,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).",[184250],,,,,Spondyloepimetaphyseal dysplasia Strudwick type,TRUE,FALSE,Active +GARD:1340,Legacy,GARD,,,,,,,,,,,,Chromosome 4q deletion,TRUE,FALSE,Active +GARD:13400,Legacy,GARD,,,,,,,,,,,,Enfermedad de Gaucher,TRUE,TRUE,Active +GARD:13401,Legacy,GARD,,,,,,,,,,,,Distal acquired demyelinating symmetric neuropathy,FALSE,FALSE,Draft +GARD:13402,Legacy,GARD,,,,,,,,,,,,Papillary glioneuronal tumors,TRUE,FALSE,Active +GARD:13403,Legacy,GARD,,,,,,,,,,,,Prurigo nodular,TRUE,TRUE,Active +GARD:13404,Legacy,GARD,,,,,,,,,,,,persistent trigeminal artery,FALSE,FALSE,Draft +GARD:13405,Legacy,GARD,,,,,,,,,,,,Ataxia espinocerebelosa tipo 13,TRUE,TRUE,Active +GARD:13406,Legacy,GARD,,,,,,,,,,,,Limbic encephalitis with LGI1 antibodies,TRUE,FALSE,Active +GARD:13407,Legacy,GARD,,,,,,,,,,,,Schwannoma,TRUE,TRUE,Active +GARD:13408,Legacy,GARD,,,,,,,,,,,,Intestinal neuronal dysplasia type B,FALSE,FALSE,Draft +GARD:13409,Active,Orphanet,ORPHA:412069,Disorder,[Malformation syndrome],AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,[Xia-Gibbs syndrome],"A rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.",[615829],,,,,Xia-Gibbs syndrome,TRUE,FALSE,Active +GARD:13410,Legacy,GARD,,,,,,,,,,,,Esclerosis tuberosa,TRUE,TRUE,Active +GARD:13411,Legacy,GARD,,,,,,,,,,,,Enfermedad de Parkinson,FALSE,TRUE,Active +GARD:13412,Legacy,GARD,,,,,,,,,,,,Hair heterochromia,FALSE,FALSE,Draft +GARD:13413,Legacy,GARD,,,,,,,,,,,,Síndrome de Pallister-Hall,TRUE,TRUE,Active +GARD:13414,Legacy,GARD,,,,,,,,,,,,Síndrome de Singleton-Merten,TRUE,TRUE,Active +GARD:13415,Legacy,GARD,,,,,,,,,,,,Uniparental disomy 6,FALSE,FALSE,Retired +GARD:13416,Legacy,GARD,,,,,,,,,,,,"46,XX,13ps+",FALSE,FALSE,Draft +GARD:13417,Legacy,GARD,,,,,,,,,,,,Giggle incontinence,FALSE,FALSE,Draft +GARD:13418,Active,Orphanet,ORPHA:453504,Subtype of disorder,[Etiological subtype],Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,,,[616580],,,,,Au-Kline syndrome,TRUE,FALSE,Draft +GARD:13419,Legacy,GARD,,,,,,,,,,,,Atrofia multisistémica,TRUE,TRUE,Active +GARD:13420,Legacy,GARD,,,,,,,,,,,,Aciduria D-2-hidroxiglutárica,TRUE,TRUE,Draft +GARD:13421,Legacy,GARD,,,,,,,,,,,,Síndrome de Wiskott-Aldrich,TRUE,TRUE,Active +GARD:13422,Legacy,GARD,,,,,,,,,,,,Rahman syndrome,TRUE,FALSE,Active +GARD:13423,Active,Orphanet,ORPHA:480864,Disorder,[Disease],Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,[TANGO2-related metabolic encephalopathy-arrhythmia syndrome],"Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.",[616878],,,,,TANGO2-Related Metabolic Encephalopathy and Arrhythmias,TRUE,FALSE,Active +GARD:13424,Legacy,GARD,,,,,,,,,,,,Trisomía 13,TRUE,TRUE,Active +GARD:13425,Active,Orphanet,ORPHA:447997,Disorder,[Disease],Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,"[ASCT1 deficiency, Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome]","A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.",[616657],,,,,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,TRUE,FALSE,Active +GARD:13426,Legacy,GARD,,,,,,,,,,,,Paraparesia espástica tropical,TRUE,TRUE,Active +GARD:13427,Legacy,GARD,,,,,,,,,,,,Nevo melanocítico congénito gigante,TRUE,TRUE,Active +GARD:13428,Legacy,GARD,,,,,,,,,,,,ilioinguinal nerve entrapment,FALSE,FALSE,Draft +GARD:13429,Legacy,GARD,,,,,,,,,,,,Lichen simplex chronicus,FALSE,FALSE,Draft +GARD:13430,Legacy,GARD,,,,,,,,,,,,Quistes aracnoideos,TRUE,TRUE,Active +GARD:13431,Active,Orphanet,ORPHA:254516,Disorder,[Malformation syndrome],Temple syndrome,,"Temple syndrome is a rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion).",[616222],,,,,Temple syndrome,TRUE,FALSE,Active +GARD:13432,Legacy,GARD,,,,,,,,,,,,Hiperinsulinismo congénito,TRUE,TRUE,Active +GARD:13433,Legacy,GARD,,,,,,,,,,,,Pleuroparenchymal fibroelastosis,TRUE,FALSE,Active +GARD:13434,Legacy,GARD,,,,,,,,,,,,"Arthrogryposis, distal, with impaired proprioception and touch",TRUE,FALSE,Draft +GARD:13435,Legacy,GARD,,,,,,,,,,,,Epilepsia mioclónica juvenil,TRUE,TRUE,Active +GARD:13436,Legacy,GARD,,,,,,,,,,,,inborn error of metabolism,FALSE,FALSE,Draft +GARD:13437,Legacy,GARD,,,,,,,,,,,,Síndrome de la piel rígida,TRUE,TRUE,Active +GARD:13438,Legacy,GARD,,,,,,,,,,,,Síndrome de Aicardi-Goutières,TRUE,TRUE,Active +GARD:13439,Legacy,GARD,,,,,,,,,,,,Síndrome de Aicardi-Goutieres,TRUE,TRUE,Retired +GARD:13440,Legacy,GARD,,,,,,,,,,,,Psoriatic arthritis,FALSE,FALSE,Draft +GARD:13441,Legacy,GARD,,,,,,,,,,,,Congenital Zika syndrome,TRUE,FALSE,Active +GARD:13442,Legacy,GARD,,,,,,,,,,,,Bain type of X-linked syndromic intellectual disability,TRUE,FALSE,Active +GARD:13443,Legacy,GARD,,,,,,,,,,,,Tumores del Estroma Gastrointestinal,TRUE,TRUE,Active +GARD:13444,Legacy,GARD,,,,,,,,,,,,Selective serotonin reuptake inhibitors (SSRIs) adverse effects,FALSE,FALSE,Draft +GARD:13445,Legacy,GARD,,,,,,,,,,,,Neuroendocrine tumor,TRUE,FALSE,Active +GARD:13446,Active,Orphanet,ORPHA:86855,Disorder,[Disease],Plasmacytoma,[Solitary plasmacytoma],"Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.",,,,,,Plasmacytoma,TRUE,FALSE,Active +GARD:13447,Active,Orphanet,ORPHA:313936,Disorder,[Disease],PENS syndrome,[Papular epidermal nevi with skyline basal cell layers syndrome],"PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.",,,,,,Papular epidermal nevi with skyline basal cell layers syndrome,TRUE,FALSE,Active +GARD:13448,Legacy,GARD,,,,,,,,,,,,Síndrome de nevus epidérmico papuloso con capas de células basales 'en horizonte',TRUE,TRUE,Active +GARD:13449,Legacy,GARD,,,,,,,,,,,,Submandibular sialolithiasis,FALSE,FALSE,Draft +GARD:1345,Active,Orphanet,ORPHA:1449,Disorder,[Malformation syndrome],Ring chromosome 7 syndrome,"[Ring 7, Ring chromosome 7]","Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).",,,,,,Ring chromosome 7,TRUE,FALSE,Active +GARD:13450,Legacy,GARD,,,,,,,,,,,,Síndrome odontotricomélico,TRUE,TRUE,Active +GARD:13451,Active,Orphanet,ORPHA:464329,Disorder,[Disease],Kaposiform lymphangiomatosis,,"A rare vascular anomaly or angioma characterized by multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding, and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition.",,,,,,Kaposiform lymphangiomatosis,TRUE,FALSE,Active +GARD:13452,Legacy,GARD,,,,,,,,,,,,Granulomatosis eosinofílica con poliangitis,TRUE,TRUE,Active +GARD:13453,Legacy,GARD,,,,,,,,,,,,Copper toxicity,FALSE,FALSE,Draft +GARD:13454,Legacy,GARD,,,,,,,,,,,,Síndrome PURA,TRUE,TRUE,Active +GARD:13455,Legacy,GARD,,,,,,,,,,,,Jackhammer esophagus,TRUE,FALSE,Active +GARD:13456,Legacy,GARD,,,,,,,,,,,,Síndrome CREST,TRUE,TRUE,Active +GARD:13457,Legacy,GARD,,,,,,,,,,,,Anti-PIT-1 antibody syndrome,TRUE,FALSE,Active +GARD:13458,Legacy,GARD,,,,,,,,,,,,Pseudomixoma peritoneal,TRUE,TRUE,Active +GARD:13459,Legacy,GARD,,,,,,,,,,,,Red ear syndrome,FALSE,FALSE,Draft +GARD:1346,Legacy,GARD,,,,,,,,,,,,Chromosome 7p deletion,TRUE,FALSE,Active +GARD:13460,Legacy,GARD,,,,,,,,,,,,Mycobacterium asiaticum,FALSE,FALSE,Draft +GARD:13461,Active,Orphanet,ORPHA:217330,Subtype of disorder,[Clinical subtype],REN-related autosomal dominant tubulointerstitial kidney disease,"[ADTKD-REN, FJHN type 2, Familial juvenile hyperuricemic nephropathy type 2, REN-associated FJHN, REN-associated familial juvenile hyperuricemic nephropathy, REN-associated kidney disease]","Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).",[613092],,,,,Autosomal dominant tubulointerstitial kidney disease due to REN mutations,TRUE,FALSE,Active +GARD:13462,Legacy,GARD,,,,,,,,,,,,Atrofia hemifacial progresiva,TRUE,TRUE,Active +GARD:13463,Legacy,GARD,,,,,,,,,,,,Aspirin-like defect,FALSE,FALSE,Draft +GARD:13464,Legacy,GARD,,,,,,,,,,,,Leucemia de células pilosas,TRUE,TRUE,Active +GARD:13465,Legacy,GARD,,,,,,,,,,,,Anti-GAD antibody-associated cerebellar ataxia,FALSE,FALSE,Draft +GARD:13466,Legacy,GARD,,,,,,,,,,,,17q12 triplication,FALSE,FALSE,Draft +GARD:13467,Legacy,GARD,,,,,,,,,,,,Adrenoleucodistrofia ligada al cromosoma X,TRUE,TRUE,Active +GARD:13468,Legacy,GARD,,,,,,,,,,,,Ethambutol toxic optic neuropathy,FALSE,FALSE,Draft +GARD:13469,Legacy,GARD,,,,,,,,,,,,Fragile X–associated tremor/ataxia syndrome,FALSE,FALSE,Draft +GARD:1347,Active,Orphanet,ORPHA:1450,Disorder,[Malformation syndrome],Ring chromosome 8 syndrome,"[Ring 8, Ring chromosome 8, r(8) syndrome]","A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.",,,,,,Ring chromosome 8,TRUE,FALSE,Active +GARD:13470,Legacy,GARD,,,,,,,,,,,,filamentary keratopathy,FALSE,FALSE,Draft +GARD:13471,Legacy,GARD,,,,,,,,,,,,Síndrome de Klinefelter,FALSE,TRUE,Active +GARD:13472,Active,Orphanet,ORPHA:247790,Disorder,[Disease],FTH1-related iron overload,[FTH1-associated iron overload],"A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities.",[615517],,,,,Hemochromatosis type 5,TRUE,FALSE,Active +GARD:13473,Legacy,GARD,,,,,,,,,,,,Osteogénesis imperfecta,TRUE,TRUE,Active +GARD:13474,Active,Orphanet,ORPHA:468620,Disorder,[Disease],Intellectual disability-epilepsy-extrapyramidal syndrome,,"A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.",[617171],,,,,DEAF1-associated disorders,TRUE,FALSE,Active +GARD:13475,Legacy,GARD,,,,,,,,,,,,Brachioradial pruritus,FALSE,FALSE,Draft +GARD:13476,Legacy,GARD,,,,,,,,,,,,Mastocitosis,TRUE,TRUE,Active +GARD:13477,Legacy,GARD,,,,,,,,,,,,Mold toxicity,FALSE,FALSE,Draft +GARD:13478,Legacy,GARD,,,,,,,,,,,,Endosalpingiosis,FALSE,FALSE,Draft +GARD:13479,Legacy,GARD,,,,,,,,,,,,Autoimmune enteric leiomyositis,FALSE,FALSE,Draft +GARD:1348,Active,Orphanet,ORPHA:96173,Disorder,[Malformation syndrome],Ring chromosome 9 syndrome,"[Ring 9, Ring chromosome 9]","Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.",,,,,,Ring chromosome 9,TRUE,FALSE,Active +GARD:13480,Legacy,GARD,,,,,,,,,,,,"Cleft palate, cardiac defects, and intellectual disability",TRUE,FALSE,Active +GARD:13481,Legacy,GARD,,,,,,,,,,,,Meckel's diverticulem cancer,FALSE,FALSE,Draft +GARD:13482,Legacy,GARD,,,,,,,,,,,,Síndrome de Larsen,TRUE,TRUE,Active +GARD:13483,Legacy,GARD,,,,,,,,,,,,Leucemia de linfocitos grandes y granulares,TRUE,TRUE,Active +GARD:13484,Legacy,GARD,,,,,,,,,,,,Dyscalculia,FALSE,FALSE,Draft +GARD:13485,Legacy,GARD,,,,,,,,,,,,MEPA,FALSE,FALSE,Retired +GARD:13486,Legacy,GARD,,,,,,,,,,,,Lipomatosis familiar múltiple,TRUE,TRUE,Active +GARD:13487,Legacy,GARD,,,,,,,,,,,,Corneal neuropathic disease,TRUE,FALSE,Active +GARD:13488,Active,Orphanet,ORPHA:508093,Disorder,[Malformation syndrome],MEPAN syndrome,"[Autosomal recessive childhood-onset dystonia, DYT29 type, Childhood-onset generalized dystonia-optic atrophy syndrome, DYT29, Dystonia 29, Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome]","A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.",[617282],,,,,MEPAN syndrome,TRUE,FALSE,Active +GARD:13489,Active,Orphanet,ORPHA:500150,Disorder,[Malformation syndrome],Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome,"[ZTTK syndrome, Zhu-Tokita-Takenouchi-Kim syndrome]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations (including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres), musculoskeletal abnormalities (including hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity), ocular involvement (strabismus, hypermetropia and cortical visual impairment) and hypotonia. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations.",[617140],,,,,ZTTK syndrome,TRUE,FALSE,Active +GARD:13490,Legacy,GARD,,,,,,,,,,,,Chromosome 7 inversion,FALSE,FALSE,Draft +GARD:13491,Legacy,GARD,,,,,,,,,,,,Síndrome OPHN1,TRUE,TRUE,Active +GARD:13492,Legacy,GARD,,,,,,,,,,,,Síndrome de Ehlers-Danlos espondilodisplásico,TRUE,TRUE,Active +GARD:13493,Legacy,GARD,,,,,,,,,,,,Síndrome de hipoventilación congénita central,TRUE,TRUE,Active +GARD:13494,Legacy,GARD,,,,,,,,,,,,Enfermedad de Chagas,FALSE,TRUE,Active +GARD:13495,Legacy,GARD,,,,,,,,,,,,Shashi-Pena syndrome,TRUE,FALSE,Active +GARD:13496,Legacy,GARD,,,,,,,,,,,,candida albicans,FALSE,FALSE,Draft +GARD:13497,Legacy,GARD,,,,,,,,,,,,Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms,TRUE,FALSE,Active +GARD:13498,Legacy,GARD,,,,,,,,,,,,Giant omphalocele,FALSE,FALSE,Draft +GARD:13499,Legacy,GARD,,,,,,,,,,,,Síndrome de Shashi-Pena,TRUE,TRUE,Active +GARD:13500,Legacy,GARD,,,,,,,,,,,,Mielitis transversa,TRUE,TRUE,Active +GARD:13501,Legacy,GARD,,,,,,,,,,,,Prion diseases,FALSE,FALSE,Draft +GARD:13502,Legacy,GARD,,,,,,,,,,,,Pseudoobstrucción intestinal crónica,TRUE,TRUE,Active +GARD:13503,Legacy,GARD,,,,,,,,,,,,Abdominal phrenic dyssynergia,FALSE,FALSE,Draft +GARD:13504,Legacy,GARD,,,,,,,,,,,,Pelvis floor dysfunction,FALSE,FALSE,Draft +GARD:13505,Legacy,GARD,,,,,,,,,,,,Síndrome del dolor lumbar-hematuria,TRUE,TRUE,Active +GARD:13506,Legacy,GARD,,,,,,,,,,,,Síndrome poliglandular autoinmune tipo 1,TRUE,TRUE,Active +GARD:13507,Legacy,GARD,,,,,,,,,,,,Síndrome poliglandular autoinmune tipo 2,TRUE,TRUE,Active +GARD:13508,Legacy,GARD,,,,,,,,,,,,Síndrome poliglandular autoinmune tipo 3,TRUE,TRUE,Active +GARD:13509,Legacy,GARD,,,,,,,,,,,,Ulcerative colitis,FALSE,FALSE,Draft +GARD:1351,Legacy,GARD,,,,,,,,,,,,Chronic berylliosis,TRUE,FALSE,Retired +GARD:13510,Legacy,GARD,,,,,,,,,,,,Enfermedad de Niemann-Pick,TRUE,TRUE,Active +GARD:13511,Legacy,GARD,,,,,,,,,,,,"Sucrase-isomaltase deficiency, acquired",FALSE,FALSE,Draft +GARD:13512,Legacy,GARD,,,,,,,,,,,,brachialradial pruritis,FALSE,FALSE,Draft +GARD:13513,Legacy,GARD,,,,,,,,,,,,Protoporfiria eritropoyética,TRUE,TRUE,Active +GARD:13514,Legacy,GARD,,,,,,,,,,,,PHIP-Related disorder,TRUE,FALSE,Active +GARD:13515,Legacy,GARD,,,,,,,,,,,,Síndrome de la deleción 18p,TRUE,TRUE,Active +GARD:13516,Legacy,GARD,,,,,,,,,,,,Gastroparesia,TRUE,TRUE,Active +GARD:13517,Legacy,GARD,,,,,,,,,,,,Shoenfeld syndrome,FALSE,FALSE,Draft +GARD:13518,Legacy,GARD,,,,,,,,,,,,radiation exposure,FALSE,FALSE,Draft +GARD:13519,Active,Orphanet,ORPHA:209341,Subtype of disorder,[Etiological subtype],DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,"[DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy, SMALED1]",,[158600],,,,,"Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1",TRUE,FALSE,Active +GARD:1352,Legacy,GARD,,,,,,,,,,,,Chronic demyelinizing neuropathy with IgM monoclonal,TRUE,FALSE,Active +GARD:13520,Legacy,GARD,,,,,,,,,,,,Enfermedad de Charcot-Marie-Tooth tipo 1,TRUE,TRUE,Active +GARD:13521,Legacy,GARD,,,,,,,,,,,,malassezia folliculitis,FALSE,FALSE,Draft +GARD:13522,Legacy,GARD,,,,,,,,,,,,Bochdalek hernia,FALSE,FALSE,Draft +GARD:13523,Legacy,GARD,,,,,,,,,,,,Enfermedad de Charcot-Marie-Tooth tipo 1A,TRUE,TRUE,Active +GARD:13524,Active,Orphanet+OMIM,OMIM:617854,Subtype of disorder,"[Etiological subtype, Disease subtype]","Intellectual developmental disorder, autosomal dominant 56","[Mental retardation, autosomal dominant 56]",,[617854],"[442835, 178469]","[Non-specific early-onset epileptic encephalopathy, Autosomal dominant non-syndromic intellectual disability]","[15028, 12107]",,Autosomal dominant intellectual disability 56,TRUE,FALSE,Draft +GARD:13525,Legacy,GARD,,,,,,,,,,,,Vasculitis asociada a anticuerpos anticitoplasma de neutrófilo,TRUE,TRUE,Active +GARD:13526,Legacy,GARD,,,,,,,,,,,,Granulomatosis eosinofílica con poliangeítis,TRUE,TRUE,Retired +GARD:13527,Active,Orphanet,ORPHA:464306,Disorder,[Malformation syndrome],DYRK1A-related intellectual disability syndrome,[DYRK1A syndrome],"A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects.",[614104],,,,,DYRK1A-Related Intellectual Disability Syndrome,TRUE,FALSE,Active +GARD:13528,Legacy,GARD,,,,,,,,,,,,IRF2BPL gene variant,FALSE,FALSE,Draft +GARD:13529,Legacy,GARD,,,,,,,,,,,,Insomnia,FALSE,FALSE,Draft +GARD:13530,Legacy,GARD,,,,,,,,,,,,Encefalomiopatía neurogastrointestinal mitocondrial,TRUE,TRUE,Active +GARD:13531,Legacy,GARD,,,,,,,,,,,,Autosomal recessive spinocerebellar ataxia 21,FALSE,FALSE,Draft +GARD:13532,Legacy,GARD,,,,,,,,,,,,Esclerodermia sistémica,TRUE,TRUE,Active +GARD:13533,Legacy,GARD,,,,,,,,,,,,Mosaic supernumerary chromosome,FALSE,FALSE,Draft +GARD:13534,Legacy,GARD,,,,,,,,,,,,"X-linked intellectual disability syndrome, Turner type",FALSE,FALSE,Retired +GARD:13535,Legacy,GARD,,,,,,,,,,,,REEP1 related syndrome,FALSE,FALSE,Draft +GARD:13536,Legacy,GARD,,,,,,,,,,,,pneumosinus dilatans,FALSE,FALSE,Draft +GARD:13537,Legacy,GARD,,,,,,,,,,,,Síndrome de Cornelia de Lange,TRUE,TRUE,Active +GARD:13538,Legacy,GARD,,,,,,,,,,,,Encapsulated peritoneal sclerosis,FALSE,FALSE,Draft +GARD:13539,Active,Orphanet+OMIM,OMIM:616579,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features","[Intellectual developmental disorder, autosomal dominant 40, formerly, mental retardation, autosomal dominant 40, formerly]","Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features (NEDHILD) is a rare neurodevelopmental disorder associated with impaired intellectual development, speech and language impairment, microcephaly, seizures, hypotonia, ophthalmologic issues, constipation/gastroesophageal reflux, and behavioral problems, including autism and sleep disturbances (summary by {2:Garrity et al., 2021}).",[616579],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,Autosomal dominant intellectual disability 40,TRUE,FALSE,Active +GARD:13540,Legacy,GARD,,,,,,,,,,,,Copper deficiency myeloneuropathy,FALSE,FALSE,Draft +GARD:13541,Legacy,GARD,,,,,,,,,,,,Gait ataxia with late onset polyneuropathy syndrome,TRUE,FALSE,Active +GARD:13542,Legacy,GARD,,,,,,,,,,,,PHARC,FALSE,FALSE,Draft +GARD:13543,Legacy,GARD,,,,,,,,,,,,Enfermedad de Crohn,FALSE,TRUE,Active +GARD:13544,Legacy,GARD,,,,,,,,,,,,Duplication of the vena cava,FALSE,FALSE,Draft +GARD:13545,Legacy,GARD,,,,,,,,,,,,Síndrome de Phelan-McDermid,TRUE,TRUE,Active +GARD:13546,Legacy,GARD,,,,,,,,,,,,Adenoid basal carcinoma of the cervix,FALSE,FALSE,Draft +GARD:13547,Legacy,GARD,,,,,,,,,,,,Calcinosis cutis,FALSE,FALSE,Draft +GARD:13548,Legacy,GARD,,,,,,,,,,,,Metabolic disorders,FALSE,FALSE,Draft +GARD:13549,Legacy,GARD,,,,,,,,,,,,Síndrome de microduplicación 15q13.3,TRUE,TRUE,Active +GARD:1355,Legacy,GARD,,,,,,,,,,,,Chronic polyradiculoneuritis,TRUE,FALSE,Active +GARD:13550,Legacy,GARD,,,,,,,,,,,,Myopericytoma,FALSE,FALSE,Draft +GARD:13551,Legacy,GARD,,,,,,,,,,,,Esclerosis lateral amiotrófica juvenil,TRUE,TRUE,Active +GARD:13552,Legacy,GARD,,,,,,,,,,,,Síndrome de la haploinsuficiencia MED13L,TRUE,TRUE,Active +GARD:13553,Legacy,GARD,,,,,,,,,,,,Síndrome de duplicación de MECP2,TRUE,TRUE,Active +GARD:13554,Legacy,GARD,,,,,,,,,,,,Chronic mountain sickness,FALSE,FALSE,Draft +GARD:13555,Legacy,GARD,,,,,,,,,,,,Cytomegalovirus,FALSE,FALSE,Draft +GARD:13556,Legacy,GARD,,,,,,,,,,,,Lipomas,FALSE,FALSE,Draft +GARD:13557,Legacy,GARD,,,,,,,,,,,,Enfermedad de almacenamiento de glucógeno tipo 2,TRUE,TRUE,Active +GARD:13558,Legacy,GARD,,,,,,,,,,,,ectopia cordis,FALSE,FALSE,Draft +GARD:13559,Legacy,GARD,,,,,,,,,,,,Ictiosis epidermolítica,TRUE,TRUE,Active +GARD:1356,Active,Orphanet,ORPHA:1451,Disorder,[Disease],CINCA syndrome,"[Chronic infantile neurological cutaneous and articular syndrome, IOMID syndrome, Infantile-onset multisystem inflammatory disease, NOMID syndrome, Neonatal-onset multisystem inflammatory disease, Prieur-Griscelli syndrome]","A rare, genetic, cryopyrin-associated periodic syndrome (CAPS) characterized by neonatal onset of systemic inflammation, urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis, brain atrophy and sensorineural hearing loss).",[607115],,,,,Neonatal Onset Multisystem Inflammatory disease,TRUE,FALSE,Active +GARD:13560,Legacy,GARD,,,,,,,,,,,,Fenilcetonuria,TRUE,TRUE,Active +GARD:13561,Legacy,GARD,,,,,,,,,,,,central retinal vein occlusion,FALSE,FALSE,Draft +GARD:13562,Legacy,GARD,,,,,,,,,,,,CADASIL,TRUE,TRUE,Active +GARD:13563,Legacy,GARD,,,,,,,,,,,,Síndrome del corazón izquierdo hipoplásico,TRUE,TRUE,Active +GARD:13564,Legacy,GARD,,,,,,,,,,,,TECPR2 gene-related disorder,FALSE,FALSE,Retired +GARD:13565,Active,Orphanet,ORPHA:445018,Disorder,[Disease],Combined immunodeficiency due to LRBA deficiency,[CID due to LRBA deficiency],"A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.",[614700],,,,,LRBA deficiency,TRUE,FALSE,Active +GARD:13566,Legacy,GARD,,,,,,,,,,,,Síndrome de Dubowitz,TRUE,TRUE,Active +GARD:13567,Legacy,GARD,,,,,,,,,,,,Chromosome 9q33q34 microdeletion,FALSE,FALSE,Draft +GARD:13568,Active,Orphanet,ORPHA:320385,Disorder,[Disease],Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,"[Autosomal recessive spastic paraplegia type 49, HSAN due to TECPR2 mutation, SPG49]","Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.",[615031],,,,,Autosomal recessive spastic paraplegia type 49,TRUE,FALSE,Active +GARD:13569,Legacy,GARD,,,,,,,,,,,,Irlen syndrome,FALSE,FALSE,Draft +GARD:1357,Legacy,GARD,,,,,,,,,,,,"Mental retardation-hypotonic facies syndrome X-linked, 1",TRUE,FALSE,Retired +GARD:13570,Legacy,GARD,,,,,,,,,,,,Deficiencia de LRBA,TRUE,TRUE,Active +GARD:13571,Active,Orphanet,ORPHA:293955,Disorder,[Disease],Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,,"Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.",[614458],,,,,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,TRUE,FALSE,Active +GARD:13572,Legacy,GARD,,,,,,,,,,,,Síndrome de Pitt-Hopkins,TRUE,TRUE,Active +GARD:13573,Legacy,GARD,,,,,,,,,,,,Síndrome de Xia-Gibbs,TRUE,TRUE,Active +GARD:13574,Legacy,GARD,,,,,,,,,,,,Infecciones por el Complejo Mycobacterium avium,TRUE,TRUE,Active +GARD:13575,Legacy,GARD,,,,,,,,,,,,Oncocercosis,TRUE,TRUE,Active +GARD:13576,Legacy,GARD,,,,,,,,,,,,Miopatía de Miyoshi,TRUE,TRUE,Active +GARD:13577,Legacy,GARD,,,,,,,,,,,,Disferlinopatias,TRUE,TRUE,Active +GARD:13578,Legacy,GARD,,,,,,,,,,,,Myelodysplastic Syndrome With Excess Blasts,TRUE,FALSE,Active +GARD:13579,Legacy,GARD,,,,,,,,,,,,Osteoid Osteoma,FALSE,FALSE,Draft +GARD:1358,Active,Orphanet,ORPHA:3068,Disorder,[Disease],Intellectual disability-myopathy-short stature-endocrine defect syndrome,[Chudley-Rozdilsky syndrome],"Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.",[253320],,,,,Chudley Rozdilsky syndrome,TRUE,FALSE,Active +GARD:13580,Legacy,GARD,,,,,,,,,,,,Síndrome mielodisplásico con exceso de blastos,TRUE,TRUE,Active +GARD:13581,Legacy,GARD,,,,,,,,,,,,Síndromes mielodisplásicos,TRUE,TRUE,Active +GARD:13582,Legacy,GARD,,,,,,,,,,,,Sensory ganglionopathy,FALSE,FALSE,Draft +GARD:13583,Legacy,GARD,,,,,,,,,,,,Cicatricial alopecia,FALSE,FALSE,Draft +GARD:13584,Legacy,GARD,,,,,,,,,,,,Autosomal dominant intellectual disability 49,TRUE,FALSE,Active +GARD:13585,Legacy,GARD,,,,,,,,,,,,Discapacidad intelectual autosómica dominante 49,TRUE,TRUE,Draft +GARD:13586,Legacy,GARD,,,,,,,,,,,,Espectro de la displasia septo-óptica,TRUE,TRUE,Active +GARD:13587,Active,Orphanet,ORPHA:157949,Disorder,[Disease],Combined immunodeficiency with granulomatosis,"[CID due to RAG 1/2 deficiency, Combined immunodeficiency due to RAG 1/2 deficiency]","A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.",[233650],,,,,Combined immunodeficiency with skin granulomas,TRUE,FALSE,Active +GARD:13588,Active,Orphanet,ORPHA:99748,Disorder,[Disease],Pontiac fever,,"Pontiac fever (PF) is a mild form of legionellosis (see this term) manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.",,,,,,Pontiac fever,TRUE,FALSE,Draft +GARD:13589,Legacy,GARD,,,,,,,,,,,,Enfermedad del legionario,TRUE,TRUE,Active +GARD:1359,Active,Orphanet,ORPHA:1160,Disorder,[Disease],Chylous ascites,,"Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.",[208300],,,,,Chylous ascites,TRUE,FALSE,Active +GARD:13591,Active,Orphanet,ORPHA:443236,Disorder,[Disease],Postural orthostatic tachycardia syndrome due to NET deficiency,"[Familial orthostatic tachycardia due to norepinephrine transporter deficiency, Orthostatic intolerance due to NET deficiency, POTS due to NET deficiency]","A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.",[604715],,,,,Orthostatic intolerance due to NET deficiency,TRUE,FALSE,Active +GARD:13592,Active,Orphanet,ORPHA:42738,Group of disorders,[Clinical group],Severe congenital neutropenia,,Severe congenital neutropenia is an immunodeficiency characterized by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit.,,,,,,Severe congenital neutropenia,TRUE,FALSE,Active +GARD:13593,Active,Orphanet,ORPHA:251975,Disorder,[Disease],Rosette-forming glioneuronal tumor,[RGNT],"Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum.",,,,,,Rosette-Forming Glioneuronal Tumor,TRUE,FALSE,Active +GARD:13594,Active,Orphanet,ORPHA:352649,Disorder,[Disease],Brain dopamine-serotonin vesicular transport disease,,"A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.",[618049],,,,,Brain dopamine-serotonin vesicular transport disease,TRUE,FALSE,Active +GARD:13595,Legacy,GARD,,,,,,,,,,,,miliary osteoma cutis,FALSE,FALSE,Draft +GARD:13596,Legacy,GARD,,,,,,,,,,,,Distrofia miotónica,TRUE,TRUE,Active +GARD:13597,Legacy,GARD,,,,,,,,,,,,Granuloma anular,FALSE,TRUE,Active +GARD:13598,Legacy,GARD,,,,,,,,,,,,Síndrome de Silver-Russell,TRUE,TRUE,Active +GARD:13599,Legacy,GARD,,,,,,,,,,,,MOG Antibody-Associated Disease,FALSE,FALSE,Draft +GARD:136,Legacy,GARD,,,,,,,,,,,,Dextrocardia with unusual facies and microphthalmia,TRUE,FALSE,Active +GARD:1360,Active,Orphanet+OMIM,OMIM:215518,Subtype of disorder,[Disease subtype],Ciliary discoordination due to random ciliary orientation,[Rutland ciliary disorientation syndrome],"In a 12-year-old boy whose parents had immigrated to Australia from Lebanon, {4:Rutland and de Iongh (1990)} described a history of pulmonary problems dating from the first weeks of life. With quantitative methods for measuring ciliary orientation ({1:de Iongh and Rutland, 1989}), they showed that the orientation of the cilia was random as compared to parallel in patients with recurrent respiratory tract infections and in normal subjects. {4:Rutland and de Iongh (1990)} considered the orientation to be a primary defect. They suggested that this patient might be fertile since the orientation of sperm tails in relation to each other would not be expected to have an effect on fertility. They pointed out that normal ciliary ultrastructure has been reported in patients with Kartagener syndrome ({3:Herzon and Murphy, 1980}; {2:Greenstone et al., 1983}) and they suggested that random ciliary orientation could be the defect in some of these patients. Parental consanguinity was not commented on; there were no indications of abnormalities in the parents or sibs.",[215518],[244],[Primary ciliary dyskinesia],[4484],,"Ciliary discoordination, due to random ciliary orientation",TRUE,FALSE,Active +GARD:13600,Legacy,GARD,,,,,,,,,,,,endometriosis,FALSE,FALSE,Draft +GARD:13601,Legacy,GARD,,,,,,,,,,,,Síndrome de Evans,TRUE,TRUE,Active +GARD:13602,Legacy,GARD,,,,,,,,,,,,Food Protein-Induced Enterocolitis Syndrome,FALSE,FALSE,Draft +GARD:13603,Legacy,GARD,,,,,,,,,,,,Spinal cord infarction,FALSE,FALSE,Draft +GARD:13604,Legacy,GARD,,,,,,,,,,,,Sleep paralysis,FALSE,FALSE,Draft +GARD:13605,Legacy,GARD,,,,,,,,,,,,Oligodactyly,FALSE,FALSE,Draft +GARD:13606,Active,Orphanet,ORPHA:48377,Disorder,[Disease],Subcorneal pustular dermatosis,"[Pustulosis subcornealis, Sneddon-Wilkinson disease, Subcorneal pustular dermatitis]","Subcorneal pustular dermatosis is a rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.",,,,,,Subcorneal pustular dermatosis,TRUE,FALSE,Active +GARD:13607,Legacy,GARD,,,,,,,,,,,,Lipofuscinosis neuronal ceroidea,TRUE,TRUE,Active +GARD:13608,Legacy,GARD,,,,,,,,,,,,Neurodevelopmental disorder with severe motor impairment and absent language,TRUE,FALSE,Active +GARD:13609,Legacy,GARD,,,,,,,,,,,,Amplified musculoskeletal pain syndrome,FALSE,FALSE,Draft +GARD:1361,Active,Orphanet+OMIM,OMIM:215520,Subtype of disorder,[Disease subtype],Ciliary dyskinesia with transposition of ciliary microtubules,,,[215520],[244],[Primary ciliary dyskinesia],[4484],,"Ciliary dyskinesia, due to transposition of ciliary microtubules",TRUE,FALSE,Active +GARD:13610,Legacy,GARD,,,,,,,,,,,,Enfermedad de von Hippel-Lindau,TRUE,TRUE,Active +GARD:13611,Legacy,GARD,,,,,,,,,,,,Miopatía miofibrilar,TRUE,TRUE,Active +GARD:13612,Legacy,GARD,,,,,,,,,,,,Pseudomonas aeruginosa Infections,FALSE,FALSE,Draft +GARD:13613,Active,Orphanet,ORPHA:90066,Disorder,[Particular clinical situation in a disease or syndrome],Pneumonia caused by Pseudomonas aeruginosa infection,,"A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.",,,,,,Pneumonia caused by Pseudomonas aeruginosa infection,TRUE,FALSE,Active +GARD:13614,Legacy,GARD,,,,,,,,,,,,Zinner syndrome,FALSE,FALSE,Draft +GARD:13615,Legacy,GARD,,,,,,,,,,,,Inmunodeficiencia común variable,FALSE,TRUE,Active +GARD:13616,Legacy,GARD,,,,,,,,,,,,Demencia frontotemporal,TRUE,TRUE,Active +GARD:13617,Legacy,GARD,,,,,,,,,,,,Diaphragmatic flutter,TRUE,FALSE,Active +GARD:13618,Legacy,GARD,,,,,,,,,,,,Paquidermoperiostosis,TRUE,TRUE,Active +GARD:13619,Legacy,GARD,,,,,,,,,,,,plantar fibroma,FALSE,FALSE,Draft +GARD:1362,Legacy,GARD,,,,,,,,,,,,Ciliary dyskinesia-bronchiectasis,TRUE,FALSE,Active +GARD:13620,Legacy,GARD,,,,,,,,,,,,Digital papillary adenocarcinoma,FALSE,FALSE,Draft +GARD:13621,Active,Orphanet,ORPHA:448010,Disorder,[Disease],CAD-CDG,"[CDG syndrome type Iz, CDG-Iz, CDG1Z, Carbohydrate deficient glycoprotein syndrome type Iz, Congenital disorder of glycosylation type 1z]","CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.",[616457],,,,,CAD-CDG,TRUE,FALSE,Active +GARD:13622,Legacy,GARD,,,,,,,,,,,,Discapacidad intelectual ligada al X tipo Stocco Dos Santos,TRUE,TRUE,Active +GARD:13623,Legacy,GARD,,,,,,,,,,,,Nephrotic syndrome,FALSE,FALSE,Draft +GARD:13624,Legacy,GARD,,,,,,,,,,,,Anaplastic pleomorphic xanthoastrocytoma,TRUE,FALSE,Active +GARD:13625,Legacy,GARD,,,,,,,,,,,,Derrame cerebral,FALSE,TRUE,Internal +GARD:13626,Legacy,GARD,,,,,,,,,,,,Carbohydrate malabsorption,FALSE,FALSE,Draft +GARD:13627,Legacy,GARD,,,,,,,,,,,,Ataxia espinocerebelosa con neuropatía axonal tipo 2,TRUE,TRUE,Active +GARD:13628,Legacy,GARD,,,,,,,,,,,,Polimicrogiria bilateral perisilviana,TRUE,TRUE,Active +GARD:13629,Active,Orphanet,ORPHA:139402,Disorder,[Disease],Drug reaction with eosinophilia and systemic symptoms,"[DRESS syndrome, Drug rash with eosinophilia and systemic symptoms]","A rare hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6. Onset usually occurs 2-6 weeks after administration of the causal medication and is most frequently associated with anticonvulsants and sulfonamides but other medications (allopurinol, cyclosporine, azathioprine, gold salts and antiviral agents) have also been implicated.",,,,,,Drug reaction with eosinophilia and systemic symptoms,TRUE,FALSE,Active +GARD:13630,Legacy,GARD,,,,,,,,,,,,Drug rash with eosinophilia and systemic symptoms,TRUE,FALSE,Retired +GARD:13631,Legacy,GARD,,,,,,,,,,,,Erupción con eosinofilia y síntomas sistémicos causada por medicamentos,TRUE,TRUE,Active +GARD:13632,Legacy,GARD,,,,,,,,,,,,focal epilepsy,FALSE,FALSE,Draft +GARD:13633,Legacy,GARD,,,,,,,,,,,,Pitiriasis liquenoide crónica,TRUE,TRUE,Active +GARD:13634,Legacy,GARD,,,,,,,,,,,,Pitiriasis liquenoide,TRUE,TRUE,Active +GARD:13635,Legacy,GARD,,,,,,,,,,,,Linfangioleiomiomatosis,TRUE,TRUE,Active +GARD:13636,Active,Orphanet,ORPHA:457485,Disorder,[Malformation syndrome],Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,"[MINDS syndrome, Smith-Kingsmore syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.",[616638],,,,,Smith-Kingsmore syndrome,TRUE,FALSE,Active +GARD:13637,Legacy,GARD,,,,,,,,,,,,Mielitis flácida aguda,TRUE,TRUE,Active +GARD:13638,Active,Orphanet,ORPHA:480880,Disorder,[Malformation syndrome],X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,[X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac, and urogenital anomalies, as well as hypotonia, seizures, and structural brain abnormalities, among others.",[300968],,,,,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,TRUE,FALSE,Active +GARD:13639,Active,Orphanet,ORPHA:79239,Disorder,[Disease],Classic galactosemia,"[GALT deficiency, Galactose-1-phosphate uridyltransferase deficiency, Galactosemia type 1]","A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.",[230400],,,,,Classic galactosemia,TRUE,FALSE,Active +GARD:13640,Legacy,GARD,,,,,,,,,,,,Remitting seronegative symmetrical synovitis with pitting edema,TRUE,FALSE,Active +GARD:13641,Active,Orphanet,ORPHA:221061,Disorder,[Malformation syndrome],Familial cerebral cavernous malformation,"[Familial brain cavernous angioma, Familial cerebral cavernoma, Hereditary brain cavernous angioma, Hereditary cerebral cavernoma, Hereditary cerebral cavernous malformation]","A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.","[603284, 603285, 116860]",,,,,Familial cerebral cavernous malformation,TRUE,FALSE,Active +GARD:13642,Legacy,GARD,,,,,,,,,,,,Pliegues circulares de la piel tipo Kunze,TRUE,TRUE,Active +GARD:13643,Active,Orphanet,ORPHA:35698,Group of disorders,[Category],Mitochondrial DNA depletion syndrome,[mtDNA depletion syndrome],"A clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mitochondrial DNA copy number in affected tissues without mutations or rearrangements in the mitochondrial DNA. It is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.",,,,,,Mitochondrial DNA depletion syndrome,TRUE,FALSE,Active +GARD:13644,Active,Orphanet,ORPHA:279934,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",,"A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia.",[251880],,,,,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",TRUE,FALSE,Active +GARD:13645,Legacy,GARD,,,,,,,,,,,,Auto-brewery syndrome,FALSE,FALSE,Draft +GARD:13646,Legacy,GARD,,,,,,,,,,,,carbonic anhydrase 1 variant,FALSE,FALSE,Draft +GARD:13647,Legacy,GARD,,,,,,,,,,,,Facial infiltrating lipomatosis,TRUE,FALSE,Active +GARD:13648,Legacy,GARD,,,,,,,,,,,,Lipomatosis infiltrante facial,TRUE,TRUE,Active +GARD:13649,Legacy,GARD,,,,,,,,,,,,Espectro de sindromes de sobrecrecimiento relacionado con PIK3CA,TRUE,TRUE,Active +GARD:1365,Legacy,GARD,,,,,,,,,,,,Circumscribed cutaneous aplasia of the vertex,TRUE,FALSE,Active +GARD:13650,Legacy,GARD,,,,,,,,,,,,Alcoholism,FALSE,FALSE,Draft +GARD:13651,Legacy,GARD,,,,,,,,,,,,Paraganglioma,TRUE,FALSE,Draft +GARD:13652,Legacy,GARD,,,,,,,,,,,,Erythema annulare centrifugum,FALSE,FALSE,Draft +GARD:13653,Legacy,GARD,,,,,,,,,,,,Síndrome de Meige,TRUE,TRUE,Active +GARD:13654,Legacy,GARD,,,,,,,,,,,,Generalized lipodystrophy-associated progeroid syndrome,TRUE,FALSE,Active +GARD:13655,Active,Orphanet,ORPHA:434179,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 14,"[Microcephaly-cerebral malformation-orofaciodigital syndrome, OFD14, Oral-facial-digital syndrome type 14]","Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.",[615948],,,,,Orofaciodigital syndrome 14,TRUE,FALSE,Active +GARD:13656,Legacy,GARD,,,,,,,,,,,,Enfermedad de Tay-Sachs,TRUE,TRUE,Active +GARD:13657,Legacy,GARD,,,,,,,,,,,,Anomalía de Sprengel,TRUE,TRUE,Active +GARD:13658,Active,Orphanet,ORPHA:500180,Disorder,[Disease],Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,,"A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum.",[617672],,,,,Childhood-onset neurodegeneration with brain atrophy,TRUE,FALSE,Active +GARD:13659,Legacy,GARD,,,,,,,,,,,,Hepatitis D,TRUE,FALSE,Active +GARD:1366,Legacy,GARD,,,,,,,,,,,,Circumscribed disseminated keratosis Jadassohn Lew type,TRUE,FALSE,Active +GARD:13660,Legacy,GARD,,,,,,,,,,,,Hyperlipidemia,FALSE,FALSE,Draft +GARD:13661,Active,Orphanet,ORPHA:324604,Subtype of disorder,[Clinical subtype],Classic multiminicore myopathy,"[Classic MmD, Classic multiminicore disease]",,[602771],,,,,SEPN1-related myopathy,TRUE,FALSE,Active +GARD:13662,Legacy,GARD,,,,,,,,,,,,Autosomal dominant intellectual disability 47,FALSE,FALSE,Draft +GARD:13663,Active,Orphanet,ORPHA:166282,Disorder,[Disease],Familial sick sinus syndrome,,"A rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.","[614090, 163800, 608567, 182190]",,,,,Familial sick sinus syndrome,TRUE,FALSE,Active +GARD:13664,Legacy,GARD,,,,,,,,,,,,Síndrome familiar del seno enfermo,TRUE,TRUE,Active +GARD:13665,Legacy,GARD,,,,,,,,,,,,Choroidal melanoma,FALSE,FALSE,Draft +GARD:13666,Legacy,GARD,,,,,,,,,,,,IRF2BPL-related disorders,TRUE,FALSE,Active +GARD:13667,Legacy,GARD,,,,,,,,,,,,Dependent personality disorder,FALSE,FALSE,Draft +GARD:13668,Legacy,GARD,,,,,,,,,,,,"Cerebellar ataxia, neuropathy, and vestibular arefelxia syndrome",FALSE,FALSE,Draft +GARD:13669,Legacy,GARD,,,,,,,,,,,,Leucodistrofia relacionada con POLR3,TRUE,TRUE,Active +GARD:13670,Legacy,GARD,,,,,,,,,,,,Hemoglobin D disease,FALSE,FALSE,Draft +GARD:13671,Legacy,GARD,,,,,,,,,,,,DYT-KMT2B,TRUE,FALSE,Active +GARD:13672,Legacy,GARD,,,,,,,,,,,,Distonia relacionada al gen KMT2B,TRUE,TRUE,Draft +GARD:13673,Legacy,GARD,,,,,,,,,,,,Enfermedad de Kimura,TRUE,TRUE,Active +GARD:13674,Legacy,GARD,,,,,,,,,,,,Displasia cemento-ósea florida,TRUE,TRUE,Active +GARD:13675,Legacy,GARD,,,,,,,,,,,,Tumor de Brenner del ovario,FALSE,TRUE,Active +GARD:13676,Active,Orphanet+OMIM,OMIM:615476,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 18,"[Epileptic encephalopathy, early infantile, 18]","Developmental and epileptic encephalopathy-18 (DEE18) is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, and early onset of refractory seizures. Brain imaging shows a thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by {1:Basel-Vanagaite et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615476],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,Early infantile epileptic encephalopathy 18,TRUE,FALSE,Active +GARD:13677,Legacy,GARD,,,,,,,,,,,,Fibrosis pulmonar idiopática,TRUE,TRUE,Active +GARD:13678,Legacy,GARD,,,,,,,,,,,,Síndrome de Hallermann-Streiff,TRUE,TRUE,Active +GARD:13679,Legacy,GARD,,,,,,,,,,,,Síndrome de Dyggve-Melchior-Clausen,TRUE,TRUE,Active +GARD:13680,Legacy,GARD,,,,,,,,,,,,Stankiewicz-Isidor syndrome,TRUE,FALSE,Active +GARD:13681,Legacy,GARD,,,,,,,,,,,,Early infantile epileptic encephalopathy-64,TRUE,FALSE,Active +GARD:13682,Legacy,GARD,,,,,,,,,,,,Hemangioma congénito no involutivo,TRUE,TRUE,Active +GARD:13683,Legacy,GARD,,,,,,,,,,,,TBC1D24-Related Disorders,TRUE,FALSE,Active +GARD:13684,Legacy,GARD,,,,,,,,,,,,8p inverted duplication/deletion syndrome,TRUE,FALSE,Active +GARD:13685,Legacy,GARD,,,,,,,,,,,,Enfermedad de Addison,TRUE,TRUE,Active +GARD:13686,Active,Orphanet+OMIM,OMIM:614254,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant","[Mental retardation, autosomal dominant 8, formerly]","NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by {4:Lemke et al., 2016}).",[614254],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,GRIN1-associated disorders,TRUE,FALSE,Active +GARD:13687,Legacy,GARD,,,,,,,,,,,,Bordetella bronchiseptica,FALSE,FALSE,Draft +GARD:13688,Legacy,GARD,,,,,,,,,,,,Queratosis folicular espinulosa decalvante,TRUE,TRUE,Active +GARD:13689,Legacy,GARD,,,,,,,,,,,,Follicular porokeratosis,FALSE,FALSE,Draft +GARD:1369,Active,Orphanet,ORPHA:3329,Disorder,[Malformation syndrome],Tibial aplasia-ectrodactyly syndrome,"[Aplasia of tibia with split-hand/split-foot deformity, SHFLD syndrome, SHFM associated with aplasia of long bones, Split hand/foot malformation with long bone deficiency, Split-hand/foot malformation associated with aplasia of long bones, TH-SHFM, Tibial hemimelia with split hand/foot malformation, Tibial hemimelia-ectrodactyly syndrome]",Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.,"[612576, 119100, 610685]",,,,,Cleft hand absent tibia,TRUE,FALSE,Active +GARD:13690,Legacy,GARD,,,,,,,,,,,,Macular dystrophy,FALSE,FALSE,Draft +GARD:13691,Legacy,GARD,,,,,,,,,,,,Síndrome de Lennox-Gastaut,TRUE,TRUE,Active +GARD:13692,Legacy,GARD,,,,,,,,,,,,Epstein-Barr virus infection,FALSE,FALSE,Draft +GARD:13693,Legacy,GARD,,,,,,,,,,,,Heiner syndrome,FALSE,FALSE,Draft +GARD:13694,Legacy,GARD,,,,,,,,,,,,Distal hereditary motor neuropathy type VIIB,FALSE,FALSE,Draft +GARD:13695,Legacy,GARD,,,,,,,,,,,,alpha-gal syndrome,FALSE,FALSE,Draft +GARD:13696,Legacy,GARD,,,,,,,,,,,,Lysosomal Storage Disorders,FALSE,FALSE,Draft +GARD:13697,Legacy,GARD,,,,,,,,,,,,Calcinosis tumoral familiar hiperfosfatémica,TRUE,TRUE,Active +GARD:13698,Legacy,GARD,,,,,,,,,,,,Tumores desmoides,TRUE,TRUE,Active +GARD:13699,Legacy,GARD,,,,,,,,,,,,Enteropatía congénita en penacho,TRUE,TRUE,Active +GARD:137,Legacy,GARD,,,,,,,,,,,,Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia,TRUE,FALSE,Active +GARD:13700,Legacy,GARD,,,,,,,,,,,,Hidranencefalia,TRUE,TRUE,Active +GARD:13701,Active,Orphanet,ORPHA:178540,Disorder,[Disease],Primary cutaneous follicle center lymphoma,[PCFCL],"A rare, indolent primary cutaneous B-cell lymphoma characterized by a solitary or grouped erythematous plaques or tumors, preferentially located on the head, neck or trunk region, and composed of centroblasts and centrocytes arranged in a follicular, diffuse, or mixed growth pattern. The lesions are smooth and typically do not ulcerate. The neoplastic cells express pan B cell markers and Bcl-6, and typically lack Bcl-2.",,,,,,Primary cutaneous follicle center lymphoma,TRUE,FALSE,Active +GARD:13702,Legacy,GARD,,,,,,,,,,,,Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease,TRUE,FALSE,Active +GARD:13703,Legacy,GARD,,,,,,,,,,,,Síndrome de microftalmia de Lenz,TRUE,TRUE,Active +GARD:13704,Legacy,GARD,,,,,,,,,,,,Síndrome de Rabson-Mendenhall,TRUE,TRUE,Active +GARD:13705,Legacy,GARD,,,,,,,,,,,,Lisencefalia,TRUE,TRUE,Active +GARD:13706,Legacy,GARD,,,,,,,,,,,,Mycoplasmal genitalium,FALSE,FALSE,Draft +GARD:13707,Legacy,GARD,,,,,,,,,,,,xeroderma pigmentoso,TRUE,TRUE,Active +GARD:13708,Active,Orphanet,ORPHA:280558,Disorder,[Malformation syndrome],Warsaw breakage syndrome,[WABS],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by pre- and postnatal growth restriction, microcephaly, mild to severe intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphism (with small and elongated face, bifrontal narrowing, epicanthus, short nose, small nares, dysplastic ears, and short neck). Additional variable features include limb malformations, cardiac anomalies, abnormal skin pigmentation, and recurrent infections, among others.",[613398],,,,,Warsaw breakage syndrome,TRUE,FALSE,Active +GARD:13709,Legacy,GARD,,,,,,,,,,,,Ganglioma,FALSE,FALSE,Draft +GARD:1371,Legacy,GARD,,,,,,,,,,,,Cleft lip and palate malrotation cardiopathy,TRUE,FALSE,Active +GARD:13710,Legacy,GARD,,,,,,,,,,,,Síndrome de atrofia óptica plus autosómica dominante,TRUE,TRUE,Active +GARD:13711,Legacy,GARD,,,,,,,,,,,,Síndrome IMAGe,TRUE,TRUE,Active +GARD:13712,Active,Orphanet,ORPHA:231154,Disorder,[Disease],Combined immunodeficiency due to partial RAG1 deficiency,"[CID due to partial RAG1 deficiency, CID with expansion of gamma delta T cells, Combined immunodeficiency with expansion of gamma delta T cells]",Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.,[609889],,,,,Combined immunodeficiency due to partial RAG1 deficiency,TRUE,FALSE,Active +GARD:13713,Legacy,GARD,,,,,,,,,,,,Paraplejía espástica hereditaria,TRUE,TRUE,Active +GARD:13714,Legacy,GARD,,,,,,,,,,,,Autosomal dominant intellectual disability 29,FALSE,FALSE,Draft +GARD:13715,Legacy,GARD,,,,,,,,,,,,Isolated neck extensor myopathy,FALSE,FALSE,Draft +GARD:13716,Legacy,GARD,,,,,,,,,,,,Síndrome de aniridia-ataxia cerebelosa-discapacidad intelectual,TRUE,TRUE,Active +GARD:13717,Legacy,GARD,,,,,,,,,,,,Flatback syndrome,FALSE,FALSE,Draft +GARD:13718,Legacy,GARD,,,,,,,,,,,,Embriopatía por ácido retinoico,TRUE,TRUE,Active +GARD:13719,Legacy,GARD,,,,,,,,,,,,Disequilibrium,FALSE,FALSE,Draft +GARD:1372,Legacy,GARD,,,,,,,,,,,,Cleft lip and/or palate with mucous cysts of lower,TRUE,FALSE,Retired +GARD:13720,Legacy,GARD,,,,,,,,,,,,Monosomy 21,FALSE,FALSE,Draft +GARD:13721,Legacy,GARD,,,,,,,,,,,,Trisomy 10,FALSE,FALSE,Draft +GARD:13722,Legacy,GARD,,,,,,,,,,,,Chondrodermatitis Nodularis,FALSE,FALSE,Draft +GARD:13723,Legacy,GARD,,,,,,,,,,,,Síndrome WAGR,TRUE,TRUE,Active +GARD:13724,Legacy,GARD,,,,,,,,,,,,CAMSAP1 gene mutation,FALSE,FALSE,Draft +GARD:13725,Legacy,GARD,,,,,,,,,,,,encephalitis,FALSE,FALSE,Draft +GARD:13726,Legacy,GARD,,,,,,,,,,,,Lupus Panniculitis,FALSE,FALSE,Draft +GARD:13727,Legacy,GARD,,,,,,,,,,,,Solar urticaria,FALSE,FALSE,Draft +GARD:13728,Legacy,GARD,,,,,,,,,,,,Neuromielitis óptica,TRUE,TRUE,Active +GARD:13729,Legacy,GARD,,,,,,,,,,,,Coats plus syndrome,FALSE,FALSE,Draft +GARD:13730,Legacy,GARD,,,,,,,,,,,,Síndrome de Cohen,TRUE,TRUE,Active +GARD:13731,Active,Orphanet,ORPHA:86871,Disorder,[Disease],T-cell prolymphocytic leukemia,"[T-PLL, T-cell chronic lymphocytic leukemia]","A rare mature T-cell neoplasm characterized by proliferation of small to medium-sized prolymphocytes with a mature post-thymic T-cell phenotype, involving the peripheral blood, bone marrow, lymph nodes, liver, spleen, and sometimes the skin. T-cell receptor genes are clonally rearranged. Patients typically present with hepatosplenomegaly, generalized lymphadenopathy, high leukocyte count with normal serum immunoglobulins, anemia, and thrombocytopenia. HTLV-1 serology is negative. The disease course is aggressive with generally poor prognosis.",,,,,,T-cell prolymphocytic leukemia,TRUE,FALSE,Active +GARD:13732,Legacy,GARD,,,,,,,,,,,,Shingles,FALSE,FALSE,Draft +GARD:13733,Legacy,GARD,,,,,,,,,,,,Transketolase deficiency,FALSE,FALSE,Draft +GARD:13734,Legacy,GARD,,,,,,,,,,,,BRPF1 deficiency,FALSE,FALSE,Draft +GARD:13735,Legacy,GARD,,,,,,,,,,,,Spastic paraplegia 47,TRUE,FALSE,Active +GARD:13736,Legacy,GARD,,,,,,,,,,,,X-Linked protoporphyria,FALSE,FALSE,Draft +GARD:13737,Active,Orphanet+OMIM,OMIM:613744,Subtype of disorder,[Disease subtype],"Spastic paraplegia 51, autosomal recessive","[Cerebral palsy, spastic quadriplegic, 4, formerly]","Spastic paraplegia-51 (SPG51) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity. Affected individuals also have global developmental delay with impaired intellectual development and poor or absent speech (summary by {4:Moreno-De-Luca et al., 2011}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800}).",[613744],[280763],[Severe intellectual disability and progressive spastic paraplegia],[10999],,AP-4-Associated Hereditary Spastic Paraplegia,TRUE,FALSE,Active +GARD:13738,Legacy,GARD,,,,,,,,,,,,"Inmunodeficiencia ligada al X con defectos del magnesio, infección por virus de Epstein-Barr y neoplasia",TRUE,TRUE,Active +GARD:13739,Legacy,GARD,,,,,,,,,,,,Epilepsia con crisis miotónicas astáticas,TRUE,TRUE,Active +GARD:13740,Legacy,GARD,,,,,,,,,,,,Cerebral aneurysm,FALSE,FALSE,Draft +GARD:13741,Legacy,GARD,,,,,,,,,,,,Aneurysmal subarachnoid hemorrhage,FALSE,FALSE,Draft +GARD:13742,Legacy,GARD,,,,,,,,,,,,Telangiectasia macularis eruptiva perstans,FALSE,FALSE,Draft +GARD:13743,Active,Orphanet+OMIM,OMIM:259600,Subtype of disorder,[Disease subtype],"Multicentric osteolysis, nodulosis, and arthropathy","[nao syndrome, al-aqeel sewairi syndrome, osteolysis, hereditary multicentric, nodulosis-arthropathy-osteolysis syndrome, Torg syndrome, torg-winchester syndrome, formerly]","{15:Zankl et al. (2007)} defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome ({277950}), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.",[259600],[371428],[Multicentric osteolysis-nodulosis-arthropathy spectrum],[17610],,"Multicentric osteolysis, nodulosis and arthropathy",TRUE,FALSE,Active +GARD:13744,Legacy,GARD,,,,,,,,,,,,Angiomyxoma,FALSE,FALSE,Draft +GARD:13745,Legacy,GARD,,,,,,,,,,,,Leucodistrofia autosómica dominante con enfermedad autonómica,TRUE,TRUE,Active +GARD:13746,Legacy,GARD,,,,,,,,,,,,Distrofia muscular congénita de Fukuyama,TRUE,TRUE,Active +GARD:13747,Legacy,GARD,,,,,,,,,,,,Congenital high airway obstruction syndrome,FALSE,FALSE,Draft +GARD:13748,Legacy,GARD,,,,,,,,,,,,Hiperplasia regenerativa nodular,TRUE,TRUE,Active +GARD:13749,Legacy,GARD,,,,,,,,,,,,Vulval intraepithelial neoplasia,FALSE,FALSE,Draft +GARD:1375,Legacy,GARD,,,,,,,,,,,,Cleft lip palate dysmorphism Kumar type,TRUE,FALSE,Active +GARD:13750,Legacy,GARD,,,,,,,,,,,,Síndrome de Kleefstra,TRUE,TRUE,Active +GARD:13751,Legacy,GARD,,,,,,,,,,,,Shunt extra-hepático portosistémico congénito,TRUE,TRUE,Active +GARD:13752,Legacy,GARD,,,,,,,,,,,,Hiperplasia suprarrenal congénita clásica por deficiencia de 21-hidroxilasa,TRUE,TRUE,Active +GARD:13753,Legacy,GARD,,,,,,,,,,,,NALCN-related disorders,FALSE,FALSE,Draft +GARD:13754,Legacy,GARD,,,,,,,,,,,,Chronic relapsing inflammatory optic neuropathy,FALSE,FALSE,Draft +GARD:13755,Legacy,GARD,,,,,,,,,,,,Proteinosis alveolar pulmonar congénita,TRUE,TRUE,Active +GARD:13756,Legacy,GARD,,,,,,,,,,,,Photorhabdus asymbiotica,FALSE,FALSE,Draft +GARD:13757,Legacy,GARD,,,,,,,,,,,,USP7-Related Diseases,FALSE,FALSE,Draft +GARD:13758,Legacy,GARD,,,,,,,,,,,,Mabry syndrome,FALSE,FALSE,Draft +GARD:13759,Legacy,GARD,,,,,,,,,,,,Colovesical fistula,FALSE,FALSE,Draft +GARD:13760,Legacy,GARD,,,,,,,,,,,,Yao syndrome,FALSE,FALSE,Draft +GARD:13761,Legacy,GARD,,,,,,,,,,,,Small intestine lymphoma,FALSE,FALSE,Draft +GARD:13762,Legacy,GARD,,,,,,,,,,,,Alpha-thalassemia intellectual disability syndrome linked to chromosome 16,FALSE,FALSE,Draft +GARD:13763,Legacy,GARD,,,,,,,,,,,,senile retinoschisis,FALSE,FALSE,Draft +GARD:13764,Legacy,GARD,,,,,,,,,,,,Cerebral proliferative angiopathy,FALSE,FALSE,Draft +GARD:13765,Legacy,GARD,,,,,,,,,,,,Monosomía 9p,TRUE,TRUE,Draft +GARD:13766,Legacy,GARD,,,,,,,,,,,,thrombophilia,FALSE,FALSE,Draft +GARD:13767,Legacy,GARD,,,,,,,,,,,,COPA syndrome,FALSE,FALSE,Draft +GARD:13768,Legacy,GARD,,,,,,,,,,,,HIDEA syndrome,FALSE,FALSE,Draft +GARD:13769,Legacy,GARD,,,,,,,,,,,,Xp11.22del,FALSE,FALSE,Draft +GARD:13770,Legacy,GARD,,,,,,,,,,,,Chromosome 4 inversion,FALSE,FALSE,Draft +GARD:13771,Legacy,GARD,,,,,,,,,,,,15q11q13 microduplication syndrome,FALSE,FALSE,Draft +GARD:13772,Legacy,GARD,,,,,,,,,,,,Alice in Wonderland syndrome,FALSE,FALSE,Draft +GARD:13773,Legacy,GARD,,,,,,,,,,,,Mueller Weiss syndrome,FALSE,FALSE,Draft +GARD:13774,Active,Orphanet,ORPHA:468678,Disorder,[Disease],White-Sutton syndrome,[Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome],"A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).",[616364],,,,,White Sutton syndrome,TRUE,FALSE,Draft +GARD:13775,Legacy,GARD,,,,,,,,,,,,15q26.3 microdeletion,FALSE,FALSE,Draft +GARD:13776,Legacy,GARD,,,,,,,,,,,,Delusional parasitosis,FALSE,FALSE,Draft +GARD:13777,Legacy,GARD,,,,,,,,,,,,Cholangitis,FALSE,FALSE,Draft +GARD:13778,Legacy,GARD,,,,,,,,,,,,Psychiatric disorders,FALSE,FALSE,Draft +GARD:13779,Legacy,GARD,,,,,,,,,,,,fibromyositis,FALSE,FALSE,Draft +GARD:13780,Legacy,GARD,,,,,,,,,,,,Esophageal spasm,FALSE,FALSE,Draft +GARD:13781,Active,Orphanet,ORPHA:250977,Disorder,[Disease],AICA-ribosiduria,"[5-amino-4-imidazole carboxamide ribosiduria, AICA-ribosiduria due to ATIC deficiency, AICAR transformylase/IMP cyclohydrolase deficiency, ATIC deficiency]","A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy.",[608688],,,,,AICA-ribosiduria,TRUE,FALSE,Draft +GARD:13782,Legacy,GARD,,,,,,,,,,,,Colorado Tick Fever,FALSE,FALSE,Draft +GARD:13783,Legacy,GARD,,,,,,,,,,,,Polycythemia,FALSE,FALSE,Draft +GARD:13784,Legacy,GARD,,,,,,,,,,,,Malformaciones arteriovenosas,FALSE,TRUE,Draft +GARD:13785,Legacy,GARD,,,,,,,,,,,,Pulmonary artery aneurysm,FALSE,FALSE,Draft +GARD:13786,Legacy,GARD,,,,,,,,,,,,Autosomal dominant intellectual disability 28,FALSE,FALSE,Draft +GARD:13787,Legacy,GARD,,,,,,,,,,,,Syndromic X-linked intellectual disability due to JARID1C mutation,FALSE,FALSE,Draft +GARD:13788,Legacy,GARD,,,,,,,,,,,,Kounis syndrome,FALSE,FALSE,Draft +GARD:13789,Active,Orphanet,ORPHA:597738,Disorder,[Malformation syndrome],Luscan-Lumish syndrome,[SETD2-related overgrowth syndrome],,,,,,,Luscan-Lumish syndrome,TRUE,FALSE,Draft +GARD:13790,Legacy,GARD,,,,,,,,,,,,candida auris,FALSE,FALSE,Draft +GARD:13791,Legacy,GARD,,,,,,,,,,,,Juvenile Mandibular Chronic Osteomyelitis,FALSE,FALSE,Draft +GARD:13792,Legacy,GARD,,,,,,,,,,,,Mycobacterium avium subspecies paratuberculosis infection,FALSE,FALSE,Draft +GARD:13793,Legacy,GARD,,,,,,,,,,,,Pseudomonas putida,FALSE,FALSE,Draft +GARD:13794,Legacy,GARD,,,,,,,,,,,,Squamous cell carcinoma of the intestines,TRUE,FALSE,Draft +GARD:13795,Legacy,GARD,,,,,,,,,,,,Avascular necrosis,FALSE,FALSE,Draft +GARD:13796,Legacy,GARD,,,,,,,,,,,,nevus,FALSE,FALSE,Draft +GARD:13797,Legacy,GARD,,,,,,,,,,,,adipsia,FALSE,FALSE,Draft +GARD:13798,Legacy,GARD,,,,,,,,,,,,anhydramnios,FALSE,FALSE,Draft +GARD:13799,Legacy,GARD,,,,,,,,,,,,resistant hypertension,FALSE,FALSE,Draft +GARD:1380,Legacy,GARD,,,,,,,,,,,,Cleft lip palate mental retardation corneal opacity,TRUE,FALSE,Retired +GARD:13800,Legacy,GARD,,,,,,,,,,,,Hyperhomocysteinemia,FALSE,FALSE,Draft +GARD:13801,Legacy,GARD,,,,,,,,,,,,Hyperalphalipoproteinemia,FALSE,FALSE,Draft +GARD:13802,Legacy,GARD,,,,,,,,,,,,Cirrhosis,FALSE,FALSE,Draft +GARD:13803,Legacy,GARD,,,,,,,,,,,,Scabies,FALSE,FALSE,Draft +GARD:13804,Legacy,GARD,,,,,,,,,,,,Leukoencephalopathy,FALSE,FALSE,Draft +GARD:13805,Legacy,GARD,,,,,,,,,,,,Empty nose syndrome,FALSE,FALSE,Draft +GARD:13806,Active,Orphanet,ORPHA:599082,Disorder,[Malformation syndrome],CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome,[Snijders Blok-Campeau syndrome],,[618205],,,,,Snijders Blok-Campeau syndrome,TRUE,FALSE,Draft +GARD:13807,Legacy,GARD,,,,,,,,,,,,Kleefstra Syndrome 2,FALSE,FALSE,Draft +GARD:13808,Legacy,GARD,,,,,,,,,,,,Folliculitis,FALSE,FALSE,Draft +GARD:13809,Active,Orphanet,ORPHA:227796,Disorder,[Disease],Fundus albipunctatus,,"Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.",[136880],,,,,Fundus albipunctatus,TRUE,FALSE,Draft +GARD:1381,Legacy,GARD,,,,,,,,,,,,Cleft lip palate oligodontia syndactyly pili torti,TRUE,FALSE,Active +GARD:13810,Legacy,GARD,,,,,,,,,,,,Respiratory Epithelial Adenomatoid Hamartoma,FALSE,FALSE,Draft +GARD:13811,Active,Orphanet,ORPHA:420179,Disorder,[Malformation syndrome],Malan overgrowth syndrome,[Sotos syndrome 2],"A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.",[614753],,,,,Sotos syndrome 2,TRUE,FALSE,Draft +GARD:13812,Legacy,GARD,,,,,,,,,,,,Lymphocytic gastritis,FALSE,FALSE,Draft +GARD:13813,Legacy,GARD,,,,,,,,,,,,Charcot arthropathy of the shoulder and elbow,FALSE,FALSE,Draft +GARD:13814,Legacy,GARD,,,,,,,,,,,,Spingolipid phospholyase deficiency,FALSE,FALSE,Draft +GARD:13815,Legacy,GARD,,,,,,,,,,,,Chromosome Xp duplication,FALSE,FALSE,Draft +GARD:13816,Legacy,GARD,,,,,,,,,,,,Achromatopsia,FALSE,FALSE,Draft +GARD:13817,Legacy,GARD,,,,,,,,,,,,Facioscapulohumeral muscular dystrophy type 2,FALSE,FALSE,Draft +GARD:13818,Active,Orphanet,ORPHA:506334,Disorder,[Disease],Familial steroid-resistant nephrotic syndrome with adrenal insufficiency,[Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency],"A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures).",[617575],,,,,Sphingosine phosphate lyase insufficiency syndrome,TRUE,FALSE,Active +GARD:13819,Legacy,GARD,,,,,,,,,,,,Hereditary myopathy,FALSE,FALSE,Draft +GARD:1382,Legacy,GARD,,,,,,,,,,,,Cleft lip palate pituitary deficiency,TRUE,FALSE,Active +GARD:13820,Legacy,GARD,,,,,,,,,,,,Hereditary Papulotranslucent Acrokeratoderma,TRUE,FALSE,Draft +GARD:13821,Legacy,GARD,,,,,,,,,,,,Angioma,FALSE,FALSE,Draft +GARD:13822,Legacy,GARD,,,,,,,,,,,,CDK13-Related Disorder,FALSE,FALSE,Draft +GARD:13823,Legacy,GARD,,,,,,,,,,,,Isolated methylmalonic acidemia/aciduria,TRUE,FALSE,Draft +GARD:13824,Active,Orphanet,ORPHA:324977,Disorder,[Disease],Proteasome-associated autoinflammatory syndrome,"[ALDD syndrome, Autoinflammation-lipodystrophy-dermatosis syndrome, PRAAS, Proteasome disability syndrome]","A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly.","[619183, 256040, 618048, 617591, 619175]",,,,,Proteasome-associated autoinflammatory syndrome,TRUE,FALSE,Draft +GARD:13825,Legacy,GARD,,,,,,,,,,,,Síndrome de Sheehan,TRUE,TRUE,Draft +GARD:13826,Legacy,GARD,,,,,,,,,,,,KCNMA1-Linked Channelopathy,TRUE,FALSE,Draft +GARD:13827,Legacy,GARD,,,,,,,,,,,,Human papillomavirus,FALSE,FALSE,Draft +GARD:1383,Legacy,GARD,,,,,,,,,,,,Cleft lip palate-tetraphocomelia,TRUE,FALSE,Active +GARD:1386,Legacy,GARD,,,,,,,,,,,,Cleft lower lip cleft lateral canthi chorioretinal,TRUE,FALSE,Active +GARD:1387,Legacy,GARD,,,,,,,,,,,,Cleft palate cardiac defect ectrodactyly,TRUE,FALSE,Retired +GARD:1388,Legacy,GARD,,,,,,,,,,,,Cleft palate colobomata radial synostosis deafness,TRUE,FALSE,Active +GARD:1389,Legacy,GARD,,,,,,,,,,,,Cleft palate heart disease polydactyly absent tibia,TRUE,FALSE,Active +GARD:139,Active,Orphanet,ORPHA:615,Disorder,[Disease],Familial atrial myxoma,,"Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.",[255960],,,,,"Atrial myxoma, familial",TRUE,FALSE,Active +GARD:1391,Active,Orphanet,ORPHA:2016,Disorder,[Malformation syndrome],Cleft palate-lateral synechia syndrome,[CPLS syndrome],Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.,[119550],,,,,Cleft palate lateral synechia syndrome,TRUE,FALSE,Active +GARD:1392,Active,Orphanet,ORPHA:2015,Disorder,[Malformation syndrome],Cleft palate-short stature-vertebral anomalies syndrome,[Mathieu-De Broca-Bony syndrome],"A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.",,,,,,Cleft palate short stature vertebral anomalies,TRUE,FALSE,Active +GARD:1393,Active,Orphanet,ORPHA:2010,Disorder,[Malformation syndrome],Cleft palate-stapes fixation-oligodontia syndrome,,"A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.",[216300],,,,,Cleft palate stapes fixation oligodontia,TRUE,FALSE,Active +GARD:1394,Active,Orphanet,ORPHA:324601,Disorder,[Malformation syndrome],X-linked cleft palate and ankyloglossia,,"X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.",[303400],,,,,X-linked cleft palate and ankyloglossia,TRUE,FALSE,Active +GARD:1395,Legacy,GARD,,,,,,,,,,,,Cleft tongue,TRUE,FALSE,Active +GARD:1396,Legacy,GARD,,,,,,,,,,,,Cleft upper lip median cutaneous polyps,TRUE,FALSE,Retired +GARD:140,Active,Orphanet,ORPHA:1201,Disorder,[Morphological anomaly],Atresia of small intestine,"[Apple peel syndrome, Intestinal atresia type IIIb, Jejunal atresia, Jejunoileal atresia, Small intestinal atresia]","A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction.",[243600],,,,,Atresia of small intestine,TRUE,FALSE,Active +GARD:1400,Legacy,GARD,,,,,,,,,,,,Cloacal exstrophy,TRUE,FALSE,Retired +GARD:1402,Active,Orphanet,ORPHA:93274,Subtype of disorder,[Clinical subtype],Thanatophoric dysplasia type 2,"[Cloverleaf skull-micromelic bone dysplasia syndrome, TD2, Thanatophoric dwarfism type 2, Thanatophoric dwarfism-cloverleaf skull syndrome]","A form of thanatophoric dysplasia characterized by prenatal onset of micromelia with straight femurs, platyspondyly, narrow thorax, and cloverleaf skull with increased risk of hydrocephalus and neurological complications. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, frontal bossing, midface hypoplasia, low nasal bridge, large anterior fontanel, and proptosis. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.","[187601, 156830]",,,,,Thanatophoric dysplasia type 2,TRUE,FALSE,Active +GARD:1404,Active,Orphanet+OMIM,OMIM:156830,Subtype of disorder,[Clinical subtype],Micromelic bone dysplasia with cloverleaf skull,,"In a survey of lethal osteochondrodysplasias in the county of Fyn (Funen), Denmark, {1:Andersen (1989)} found 2 cases of micromelic dysplasia with cloverleaf skull. One, a male, was born of a 49-year-old father and a 39-year-old mother who were not consanguineous. Micromelic bone dysplasia with cloverleaf skull has the same thoracic, pelvic, and spinal radiographic findings as thanatophoric dysplasia ({187600}) but does not have 'telephone receiver' femora. The micromelia is less severe than in thanatophoric dysplasia. Autosomal recessive inheritance was suggested by {2:Elejalde and de Elejalde (1985)}. The age of the father in Andersen's case suggests a new dominant mutation.\n\nIt is possible that this disorder is indeed a variant of thanatophoric dysplasia and is due to mutation in the gene for fibroblast growth factor receptor-3 (FGFR3; {134934}). {3:Tavormina et al. (1995)} found 3 mutations in that gene correlating with distinct subtypes of thanatophoric dysplasia.",[156830],[93274],[Thanatophoric dysplasia type 2],[1402],,Micromelic bone dysplasia with cloverleaf skull,TRUE,FALSE,Retired +GARD:1409,Legacy,GARD,,,,,,,,,,,,CMV antenatal infection,TRUE,FALSE,Retired +GARD:1410,Active,Orphanet,ORPHA:1454,Disorder,[Disease],Joubert syndrome with hepatic defect,"[COACH syndrome, Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis, Gentile syndrome, JS-H, Joubert syndrome with congenital hepatic fibrosis]","Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).","[619111, 216360, 619113]",,,,,COACH syndrome,TRUE,FALSE,Active +GARD:1412,Legacy,GARD,,,,,,,,,,,,Coarse face hypotonia constipation,TRUE,FALSE,Active +GARD:1413,Active,Orphanet,ORPHA:1911,Disorder,[Malformation syndrome],Cocaine embryofetopathy,[Fetal cocaine syndrome],"Cocaine embryofetopathy is a group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.",,,,,,Cocaine antenatal exposure,TRUE,FALSE,Active +GARD:1415,Active,Orphanet,ORPHA:90321,Subtype of disorder,[Clinical subtype],Cockayne syndrome type 1,[Cockayne syndrome type I],,"[216400, 133540]",,,,,Cockayne syndrome type I,TRUE,FALSE,Active +GARD:1417,Active,Orphanet,ORPHA:90324,Subtype of disorder,[Clinical subtype],Cockayne syndrome type 3,[Cockayne syndrome type III],,"[216400, 133540]",,,,,Cockayne syndrome type III,TRUE,FALSE,Active +GARD:1418,Active,Orphanet,ORPHA:1458,Disorder,[Malformation syndrome],CODAS syndrome,[Cerebrooculodentoauriculoskeletal syndrome],"Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.",[600373],,,,,CODAS syndrome,TRUE,FALSE,Active +GARD:1419,Legacy,GARD,,,,,,,,,,,,Coenzyme Q cytochrome c reductase deficiency of,TRUE,FALSE,Active +GARD:1420,Active,Orphanet,ORPHA:90322,Subtype of disorder,[Clinical subtype],Cockayne syndrome type 2,[Cockayne syndrome type II],,"[216400, 133540]",,,,,Cockayne syndrome type II,TRUE,FALSE,Active +GARD:1421,Active,Orphanet,ORPHA:1467,Disorder,[Disease],Cogan syndrome,,A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions.,,,,,,Cogan's syndrome,TRUE,FALSE,Active +GARD:1422,Legacy,GARD,,,,,,,,,,,,Cohen Hayden syndrome,TRUE,FALSE,Retired +GARD:1423,Legacy,GARD,,,,,,,,,,,,Cohen Lockood Wyborney syndrome,TRUE,FALSE,Active +GARD:1425,Active,Orphanet,ORPHA:2050,Disorder,[Malformation syndrome],Cole-Carpenter syndrome,[Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome],"An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).","[616294, 112240]",,,,,Cole Carpenter syndrome,TRUE,FALSE,Active +GARD:1428,Active,Orphanet,ORPHA:2412,Disorder,[Malformation syndrome],Dislocation of the hip-dysmorphism syndrome,[Collins-Pope syndrome],"Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.",[601450],,,,,Collins Pope syndrome,TRUE,FALSE,Active +GARD:1429,Legacy,GARD,,,,,,,,,,,,Collins Sakati syndrome,TRUE,FALSE,Active +GARD:143,Active,Orphanet,ORPHA:2220,Disorder,[Malformation syndrome],Hypertrichosis cubiti,"[Hairy elbows syndrome, MacDermot-Patton-Williams syndrome]","Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.",[139600],,,,,Hairy elbows,TRUE,FALSE,Active +GARD:1430,Legacy,GARD,,,,,,,,,,,,Coloboma chorioretinal cerebellar vermis aplasia,TRUE,FALSE,Retired +GARD:1432,Legacy,GARD,,,,,,,,,,,,Retinochoroidal coloboma,TRUE,FALSE,Active +GARD:1433,Active,Orphanet,ORPHA:98943,Disorder,[Morphological anomaly],Coloboma of eye lens,,"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual acuity. Other ocular anomalies, such as iris, choroid or optic disc colobomas, as well as cataracts and retinal detachment, may be associated.",,,,,,Coloboma of eye lens,TRUE,FALSE,Active +GARD:1434,Active,Orphanet,ORPHA:98944,Disorder,[Morphological anomaly],Coloboma of iris,,"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. 'keyhole' or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed.",[120200],,,,,Coloboma of iris,TRUE,FALSE,Active +GARD:1436,Active,Orphanet,ORPHA:98945,Disorder,[Morphological anomaly],Coloboma of macula,,"Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.",,,,,,Coloboma of macula,TRUE,FALSE,Active +GARD:1437,Active,Orphanet,ORPHA:1471,Disorder,[Malformation syndrome],Coloboma of macula-brachydactyly type B syndrome,[Sorsby syndrome],"A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits.",[120400],,,,,Coloboma of macula with type B brachydactyly,TRUE,FALSE,Active +GARD:1438,Active,Orphanet,ORPHA:98947,Disorder,[Morphological anomaly],Coloboma of optic disc,[Coloboma of optic papilla],"Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).",,,,,,Coloboma of optic papilla,TRUE,FALSE,Active +GARD:1439,Legacy,GARD,,,,,,,,,,,,Coloboma porencephaly hydronephrosis,TRUE,FALSE,Active +GARD:144,Active,Orphanet,ORPHA:2083,Disorder,[Malformation syndrome],Prominent glabella-microcephaly-hypogenitalism syndrome,[MacDermot-Winter syndrome],"Prominent glabella – microcephaly – hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.",[247990],,,,,Mac Dermot Winter syndrome,TRUE,FALSE,Active +GARD:1440,Active,Orphanet,ORPHA:1473,Disorder,[Malformation syndrome],Uveal coloboma-cleft lip and palate-intellectual disability,,"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.",[120433],,,,,Uveal coloboma-cleft lip and palate-intellectual disability,TRUE,FALSE,Active +GARD:1442,Legacy,GARD,,,,,,,,,,,,Colobomata unilobar lung heart defect,TRUE,FALSE,Active +GARD:1443,Active,Orphanet,ORPHA:77298,Disorder,[Malformation syndrome],Anophthalmia/microphthalmia-esophageal atresia syndrome,"[MCOPS3, Syndromic microphthalmia type 3]","A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.",[206900],,,,,"Syndromic microphthalmia, type 3",TRUE,FALSE,Active +GARD:1444,Legacy,GARD,,,,,,,,,,,,Colobomatous microphthalmia heart disease hearing,TRUE,FALSE,Retired +GARD:1446,Active,Orphanet,ORPHA:1198,Disorder,[Morphological anomaly],Colonic atresia,,Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.,[303650],,,,,Colonic atresia,TRUE,FALSE,Active +GARD:1448,Legacy,GARD,,,,,,,,,,,,Colver Steer Godman syndrome,TRUE,FALSE,Active +GARD:1449,Legacy,GARD,,,,,,,,,,,,Combarros Calleja Leno syndrome,TRUE,FALSE,Active +GARD:1452,Active,Orphanet+OMIM,OMIM:217000,Subtype of disorder,[Disease subtype],Complement component 2 deficiency,[C2 deficiency],,[217000],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,Complement component 2 deficiency,TRUE,FALSE,Active +GARD:1453,Legacy,GARD,,,,,,,,,,,,Complement component receptor 1,TRUE,FALSE,Active +GARD:1454,Active,Orphanet,ORPHA:1329,Disorder,[Morphological anomaly],Complete atrioventricular septal defect,"[CAVC, Complete AVSD, Complete atrioventricular canal, Complete atrioventricular canal defect, Complete atrioventricular septal defect with atrial and ventricular components]","A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. Morphologically, the common atrioventricular valve has 4 or 5 leaflets including superior and inferior bridging leaflets with a single annulus.",,,,,,Complete atrioventricular canal,TRUE,FALSE,Active +GARD:1459,Legacy,GARD,,,,,,,,,,,,Mitochondrial complex V deficiency,TRUE,FALSE,Active +GARD:1460,Active,Orphanet,ORPHA:3216,Disorder,[Malformation syndrome],Conductive deafness-malformed external ear syndrome,"[Conductive hearing loss-malformed external ear syndrome, Mengel-Konigsmark syndrome]","A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.",[221300],,,,,Conductive deafness with malformed external ear,TRUE,FALSE,Active +GARD:1462,Active,Orphanet+OMIM,OMIM:300085,Subtype of disorder,[Disease subtype],"Cone-rod dystrophy, x-linked, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see {304020}.",[300085],[1871],[Progressive cone dystrophy],[11897],,Cone-rod dystrophy X-linked 2,TRUE,FALSE,Active +GARD:1463,Active,Orphanet,ORPHA:1873,Disorder,[Malformation syndrome],Jalili syndrome,[Cone rod dystrophy-amelogenesis imperfecta syndrome],Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).,[217080],,,,,Cone-rod dystrophy amelogenesis imperfecta,TRUE,FALSE,Active +GARD:1465,Active,Orphanet,ORPHA:90790,Disorder,[Disease],Congenital lipoid adrenal hyperplasia due to STAR deficency,[CLAH],A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.,[201710],,,,,Congenital lipoid adrenal hyperplasia,TRUE,FALSE,Active +GARD:1467,Active,Orphanet,ORPHA:418,Group of disorders,[Clinical group],Congenital adrenal hyperplasia,[CAH],"A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity.","[202110, 201910, 202010, 201810, 201710, 613571]",,,,,Congenital adrenal hyperplasia,TRUE,FALSE,Active +GARD:1469,Active,Orphanet,ORPHA:90793,Disorder,[Disease],Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,"[CAH due to 17-alpha-hydroxylase deficiency, Combined 17-hydroxylase/17,20-lyase deficiency]","A rare form of congenital adrenal hyperplasia due to 17-alpha-hydroxylase (CYP17A1) deficiency and characterized by glucocorticoid deficiency, mineralocorticoid excess leading to hypokalemic hypertension and sex steroid deficiency (hypergonadotrophic hypogonadism). Undervirilization and even female phenotype in 46,XY males, primary amenorrhea in females and lack of pubertal development in both sexes is common. Residual CYP17A1 activity is associated with the severity of this condition with a large spectrum of variability, from presenting in early infancy, to unusually mild courses with isolated sex steroid deficiency but normal ACTH-stimulated cortisol in adult patients.",[202110],,,,,17-alpha-hydroxylase deficiency,TRUE,FALSE,Active +GARD:147,Legacy,GARD,,,,,,,,,,,,"Macrocephaly, benign familial",TRUE,FALSE,Active +GARD:1470,Active,Orphanet+OMIM,OMIM:300042,Subtype of disorder,[Disease subtype],"Alopecia, congenital",,,[300042],[700],[Alopecia totalis],[613],,Congenital alopecia X-linked,TRUE,FALSE,Retired +GARD:1471,Legacy,GARD,,,,,,,,,,,,Congenital amputation,TRUE,FALSE,Active +GARD:1472,Legacy,GARD,,,,,,,,,,,,Congenital aneurysms of the great vessels,TRUE,FALSE,Active +GARD:1473,Legacy,GARD,,,,,,,,,,,,Congenital articular rigidity,TRUE,FALSE,Active +GARD:1474,Active,Orphanet,ORPHA:1216,Disorder,[Disease],Autosomal dominant congenital benign spinal muscular atrophy,"[Autosomal dominant benign distal spinal muscular atrophy, Congenital benign spinal muscular atrophy with contractures, Congenital nonprogressive spinal muscular atrophy]","A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.",[600175],,,,,Congenital benign spinal muscular atrophy dominant,TRUE,FALSE,Active +GARD:1475,Active,Orphanet,ORPHA:2040,Disorder,[Morphological anomaly],Congenital respiratory-biliary fistula,,"Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.",,,,,,Congenital bronchobiliary fistula,TRUE,FALSE,Active +GARD:1477,Legacy,GARD,,,,,,,,,,,,Congenital contractures,TRUE,FALSE,Active +GARD:1478,Legacy,GARD,,,,,,,,,,,,Congenital craniosynostosis maternal hyperthyroiditis,TRUE,FALSE,Active +GARD:1479,Legacy,GARD,,,,,,,,,,,,Congenital cystic eye multiple ocular and intracranial anomalies,TRUE,FALSE,Active +GARD:148,Legacy,GARD,,,,,,,,,,,,"Mental retardation, macrocephaly, short stature and craniofacial dysmorphism",TRUE,FALSE,Retired +GARD:1480,Active,Orphanet,ORPHA:294,Disorder,[Disease],Fetal cytomegalovirus syndrome,"[Antenatal CMV infection, Antenatal cytomegalovirus infection, Mother-to-child transmission of cytomegalovirus syndrome]","A fetopathy that is likely to occur when a cytomegalovirus (CMV) infected pregnant woman transmits the virus in utero. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection.",,,,,,Congenital cytomegalovirus,TRUE,FALSE,Active +GARD:1481,Active,Orphanet,ORPHA:2140,Disorder,[Morphological anomaly],Congenital diaphragmatic hernia,[CDH],"A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension.","[222400, 610187, 142340, 306950]",,,,,Congenital diaphragmatic hernia,TRUE,FALSE,Active +GARD:1483,Legacy,GARD,,,,,,,,,,,,Congenital heart disease ptosis hypodontia craniostosis,TRUE,FALSE,Active +GARD:1484,Legacy,GARD,,,,,,,,,,,,Congenital heart disease radio ulnar synostosis mental retardation,TRUE,FALSE,Retired +GARD:1486,Legacy,GARD,,,,,,,,,,,,Congenital herpes simplex,TRUE,FALSE,Active +GARD:1487,Active,Orphanet,ORPHA:442,Group of disorders,[Category],Congenital hypothyroidism,,Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.,,,,,,Congenital hypothyroidism,TRUE,FALSE,Active +GARD:1488,Legacy,GARD,,,,,,,,,,,,Congenital hypotrichosis milia,TRUE,FALSE,Active +GARD:1489,Active,Orphanet,ORPHA:2271,Disorder,[Disease],Congenital ichthyosis-microcephalus-tetraplegia syndrome,[Congenital ichthyosis-microcephalus-quadriplegia syndrome],"A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.",,,,,,"Congenital ichthyosis, microcephalus, quadriplegia",TRUE,FALSE,Retired +GARD:149,Legacy,GARD,,,,,,,,,,,,Prostatic malacoplakia associated with prostatic abscess,TRUE,FALSE,Active +GARD:1492,Legacy,GARD,,,,,,,,,,,,Congenital megalo-ureter,TRUE,FALSE,Active +GARD:1493,Active,Orphanet,ORPHA:2665,Disorder,[Disease],Congenital mesoblastic nephroma,,"A rare renal tumor characterized by a unilateral, solitary, well demarcated, mesenchymal/myofibroblastic neoplasm occurring in very young children. Histopathologically, three subtypes (classic, cellular, and mixed) can be distinguished. The tumor most commonly involves the renal sinus and is typically discovered as a palpable abdominal mass. Patients may also present with hypertension or hematuria, rarely with hypercalcemia or hyperreninemia. Prenatal presentation, usually with polyhydramnios, is not infrequent. The most important prognostic factor is completeness of surgical resection. Overall, malignant potential is low and clinical outcome favorable.",,,,,,Congenital mesoblastic nephroma,TRUE,FALSE,Active +GARD:1495,Active,Orphanet,ORPHA:2447,Group of disorders,[Category],Congenital mitral malformation,,,,,,,,Congenital mitral malformation,TRUE,FALSE,Active +GARD:1496,Active,Orphanet,ORPHA:99057,Disorder,[Morphological anomaly],Congenital mitral stenosis,,"Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar components and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.",,,,,,Congenital mitral stenosis,TRUE,FALSE,Active +GARD:1497,Legacy,GARD,,,,,,,,,,,,Congenital myxovirus,TRUE,FALSE,Active +GARD:1498,Legacy,GARD,,,,,,,,,,,,Congenital mumps,TRUE,FALSE,Active +GARD:1499,Legacy,GARD,,,,,,,,,,,,Congenital muscular dystrophy syringomyelia,TRUE,FALSE,Retired +GARD:15,Legacy,GARD,,,,,,,,,,,,Antisocial personality disorder,FALSE,FALSE,Retired +GARD:150,Legacy,GARD,,,,,,,,,,,,Sammartino Decreccio syndrome,TRUE,FALSE,Active +GARD:1500,Active,Orphanet,ORPHA:839,Disorder,[Disease],"Congenital nephrotic syndrome, Finnish type",[Finnish congenital nephrosis],A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting in utero or during the first 3 months of life.,[256300],,,,,Congenital nephrotic syndrome Finnish type,TRUE,FALSE,Active +GARD:15000,Active,Orphanet,ORPHA:99812,Disorder,[Disease],LIG4 syndrome,"[DNA ligase IV deficiency, Ligase 4 syndrome]","LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).",[606593],,,,,,,, +GARD:15001,Active,Orphanet,ORPHA:596753,Disorder,[Disease],VEXAS syndrome,,,[301054],,,,,,,, +GARD:15002,Draft,GARD,,Disorder,[Disease],AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY,[Cleavage-resistant RIPK1-induced autoinflammatory CRIA syndrome],"Autoinflammation with episodic fever and lymphadenopathy (AIEFL) is an autosomal dominant immunologic disorder characterized by onset of recurrent episodes of unexplained fever beginning in early infancy. The episodes occur in a cyclic pattern with a frequency of every week or every few weeks and a duration of several days. Patients have accompanying lymphadenopathy, and some may have hepatosplenomegaly. Rash and genital ulcers are not observed. Patient serum shows increased levels of inflammatory cytokines and chemokines, including IL6 ({147620}) and TNF ({191160}), consistent with abnormal activation of the innate inflammatory system. Treatment with anti-IL6R ({147880}) antibodies may result in clinical improvement (summary by {1:Lalaoui et al., 2020}).",[618852],,,[30000],RDrequest.0001,,,, +GARD:15003,Active,Orphanet,ORPHA:566175,Disorder,[Disease],Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,"[CD55 deficiency, CHAPLE syndrome]",,[226300],,,,,,,, +GARD:15004,Active,Orphanet,ORPHA:306550,Disorder,[Disease],FADD-related immunodeficiency,,"FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.",[613759],,,,,,,, +GARD:15005,Draft,GARD,,Disorder,[Disease],PACAK-ZHUANG syndrome,,,,,,[30000],RDrequest.0002,,,, +GARD:15006,Draft,GARD,,Disorder,[Disease],STAT5 Haploinsuffciency,,,,,,[30000],RDRequest.0003,,,, +GARD:15007,Draft,GARD,,Disorder,[Disease],Warburg-Cinotti syndrome,,"Warburg-Cinotti syndrome (WRCN) is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis ({3:Xu et al., 2018}).",[618175],,,[30000],RDrequest.0004,,,, +GARD:15008,Draft,GARD,,Disorder,[Disease],Okur-Chung neurodevelopmental syndrome (OCNDS),,"Okur-Chung neurodevelopmental syndrome (OCNDS) is characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients ({3:Okur et al., 2016}).",[617062],,,[30000],RDRequest.0005,,,, +GARD:15010,Active,Orphanet,ORPHA:145,Disorder,[Disease],Hereditary breast and ovarian cancer syndrome,,"Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.","[612555, 604370, 614291, 613399]",,,,,,,, +GARD:15011,Active,Orphanet+OMIM,OMIM:300554,Subtype of disorder,[Clinical subtype],"Hypophosphatemic rickets, x-linked recessive",,"X-linked recessive hypophosphatemic rickets is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' ({5:Scheinman, 1998}; {2:Gambaro et al., 2004}). For a general discussion of Dent disease, see {300009}.",[300554],[93622],[Dent disease type 1],[1804],,,,, +GARD:15012,Active,Orphanet,ORPHA:667,Disorder,[Malformation syndrome],Autosomal recessive malignant osteopetrosis,[Infantile malignant osteopetrosis],Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.,"[615085, 259710, 611490, 259700]",,,,,,,, +GARD:15013,Active,Orphanet,ORPHA:1522,Disorder,[Malformation syndrome],Craniometaphyseal dysplasia,,"Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.","[218400, 123000]",,,,,,,, +GARD:15014,Active,Orphanet,ORPHA:2126,Disorder,[Disease],Solitary fibrous tumor/hemangiopericytoma,[SFT/HPC],"A rare spindle cell neoplasm that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).",[234820],,,,,,,, +GARD:15015,Active,Orphanet,ORPHA:49382,Disorder,[Disease],Achromatopsia,"[ACHM, Complete or incomplete color blindness, Pingelapese blindness, Rod monochromacy, Rod monochromatism, Total color blindness]","A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.","[262300, 216900, 613093, 613856, 610024, 616517]",,,,,,,, +GARD:15016,Active,Orphanet,ORPHA:50942,Disorder,[Disease],Striate palmoplantar keratoderma,"[Keratosis palmoplantaris striata, Keratosis palmoplantaris striata et areata, Keratosis palmoplantaris varians of Wachters]","Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.","[148700, 612908, 607654]",,,,,,,, +GARD:15017,Active,Orphanet,ORPHA:77258,Disorder,[Malformation syndrome],Trichorhinophalangeal syndrome type 1 and 3,,"A rare genetic disease characterized by sparse scalp hair, lateral thinning of eyebrows, mild facial dysmorphism (bulbous tip of the nose, long flat philtrum, thin upper lip vermilion, and protruding ears), and skeletal anomalies including cone-shaped phalangeal epiphyses, hip dysplasia, and short stature. Type 3 can be differentiated by the presence of severe brachydactyly due to short metacarpals. Cartilaginous exostoses are not present in both types.","[190350, 190351]",,,,,,,, +GARD:15018,Active,Orphanet,ORPHA:1478,Disorder,[Morphological anomaly],Interatrial communication,"[ASD, Atrial septal defect, Interauricular communication]",A congenital cardiac malformation characterized by a communication between the atrial chambers of the heart.,"[612794, 614475, 607941, 108800, 613087, 614433, 611363, 614089]",,,,,,,, +GARD:15019,Active,Orphanet,ORPHA:84090,Disorder,[Disease],Fibronectin glomerulopathy,"[GFND, Glomerulopathy with fibronectin deposits]","A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.","[601894, 137950]",,,,,,,, +GARD:1502,Active,Orphanet,ORPHA:104008,Group of disorders,[Clinical group],Short bowel syndrome,,"Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.",,,,,,Short bowel syndrome,TRUE,FALSE,Active +GARD:15020,Active,Orphanet,ORPHA:90695,Disorder,[Disease],Non-acquired panhypopituitarism,[Genetic panhypopituitarism],"A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential.","[312000, 262600]",,,,,,,, +GARD:15021,Active,Orphanet,ORPHA:95429,Disorder,[Disease],Angioma serpiginosum,,A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.,"[300652, 106050]",,,,,,,, +GARD:15022,Active,Orphanet,ORPHA:98913,Subtype of disorder,[Etiological subtype],Postsynaptic congenital myasthenic syndromes,,,"[616326, 616313, 616720, 608930, 605809, 616321, 608931, 616322, 601462, 616314, 616323, 616324, 614198, 616325, 616304, 615120, 254300]",,,,,,,, +GARD:15023,Active,Orphanet,ORPHA:98914,Subtype of disorder,[Etiological subtype],Presynaptic congenital myasthenic syndromes,,,"[617143, 616330, 616040, 618197, 618323, 254210, 616720, 617239, 615120, 618198]",,,,,,,, +GARD:15024,Active,Orphanet,ORPHA:166002,Disorder,[Disease],Multiple epiphyseal dysplasia due to collagen 9 anomaly,,"Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.","[600969, 600204, 614135]",,,,,,,, +GARD:15025,Active,Orphanet,ORPHA:169147,Disorder,[Disease],Immunodeficiency due to a classical component pathway complement deficiency,"[Immunodeficiency due to C1, C4, or C2 component complement deficiency, Immunodeficiency due to an early component of complement deficiency]","Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.","[614380, 613783, 613652, 614379, 217000, 216950]",,,,,,,, +GARD:15026,Active,Orphanet,ORPHA:183678,Subtype of disorder,[Clinical subtype],Hermansky-Pudlak syndrome due to AP-3 deficiency,[Hermansky-Pudlak syndrome with neutropenia],"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.","[608233, 617050]",,,,,,,, +GARD:15027,Active,Orphanet,ORPHA:199241,Disorder,[Disease],Pulmonary capillary hemangiomatosis,,,[234810],,,,,,,, +GARD:15028,Active,Orphanet,ORPHA:442835,Disorder,[Disease],Non-specific early-onset epileptic encephalopathy,"[Non-specific EOEE, Undetermined EOEE, Undetermined early-onset epileptic encephalopathy]","A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.","[617836, 617938, 615833, 615905, 618468, 617829, 616211, 618012, 617830, 617831, 619124, 615871, 614558, 616409, 617854, 617020, 618559, 617166, 618437, 618916, 618959, 618910, 617132, 617162, 301058, 618201, 618557, 618396, 301008, 617105, 617106, 616366, 616346, 618008, 616339, 617153, 616056, 615476]",,,,,,,, +GARD:15029,Active,Orphanet+OMIM,OMIM:100050,Subtype of disorder,[Malformation syndrome subtype],"Aarskog syndrome, autosomal dominant",,"Aarskog syndrome is characterized by short stature and facial, limb, and genital anomalies. One form of the disorder is X-linked (see {305400}), but there is also evidence for autosomal dominant and autosomal recessive ({227330}) inheritance (summary by {1:Grier et al., 1983}).",[100050],[915],[Aarskog-Scott syndrome],[4775],,,,, +GARD:1503,Active,Orphanet,ORPHA:1987,Disorder,[Malformation syndrome],Femoral agenesis/hypoplasia,"[Congenital short femur, Femoral intercalary meromelia]",Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.,,,,,,Congenital femoral deficiency,TRUE,FALSE,Active +GARD:15030,Active,Orphanet+OMIM,OMIM:101800,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]",Acrodysostosis 1 with or without hormone resistance,[Adohr],"Acrodysostosis-1 (ACRDYS1) is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by {8:Linglart et al., 2011}). However, not all patients show endocrine abnormalities ({7:Lee et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Acrodysostosis\n\nSee also ACRDYS2 ({614613}), caused by mutation in the PDE4D gene ({600129}) on chromosome 5q12.",[101800],"[280651, 950]","[Acrodysostosis with multiple hormone resistance, Acrodysostosis]","[5724, 17300]",,,,, +GARD:15031,Active,Orphanet+OMIM,OMIM:102400,Subtype of disorder,[Malformation syndrome subtype],Acroosteolysis,,,[102400],[955],[Hajdu-Cheney syndrome],[508],,,,, +GARD:15032,Active,Orphanet+OMIM,OMIM:102530,Subtype of disorder,[Clinical subtype],Spermatogenic failure 6,"[acrosome malformation of spermatozoa, round-headed spermatozoa, spermatozoa, round-headed, Globozoospermia]","Spermatogenic failure-6 (SPGF6) is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects ({9:Lalonde et al., 1988}, {11:Singh, 1992}). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon ({1:Battaglia et al., 1997}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[102530],[171709],[Male infertility due to globozoospermia],[12502],,,,, +GARD:15033,Active,Orphanet+OMIM,OMIM:103230,Subtype of disorder,[Disease subtype],"Adrenocortical hypofunction, chronic primary congenital","[Addison disease, congenital]","{1:Chuandi et al. (1985)} reported a Chinese kindred in which persons in 3 generations, and by implication at least 1 person in a fourth earlier generation, had chronic adrenal insufficiency. This was manifest by hyperpigmentation, hypernatriuria, hypokaliuria, and decreased plasma total cortisol and urine free cortisol; PTC, UFC and 17-OHCS did not respond to ACTH stimulation. Eleven affected persons in 5 sibships were identified, including several instances of male-to-male transmission.",[103230],[85138],[Addison disease],[5740],,,,, +GARD:15034,Active,Orphanet+OMIM,OMIM:103920,Subtype of disorder,[Disease subtype],"Allergic bronchopulmonary aspergillosis, familial",,,[103920],[1164],[Allergic bronchopulmonary aspergillosis],[602],,,,, +GARD:15035,Active,Orphanet+OMIM,OMIM:104000,Subtype of disorder,[Disease subtype],Alopecia areata 1,,"Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime risk of approximately 2%, making it one of the most common human autoimmune diseases. It shows a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body ({6:Gilhar and Kalish, 2006}).",[104000],[700],[Alopecia totalis],[613],,,,, +GARD:15036,Active,Orphanet+OMIM,OMIM:104290,Subtype of disorder,[Disease subtype],Alternating hemiplegia of childhood 1,,"Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment ({5:Mikati et al., 1992}).\n\nThe disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; {141500}) and GLUT1 deficiency syndrome ({606777}) ({6:Rotstein et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Alternating Hemiplegia of Childhood\n\nSee also AHC2 ({614820}), caused by mutation in the ATP1A3 gene ({182350}).",[104290],[2131],[Alternating hemiplegia of childhood],[11],,,,, +GARD:15037,Active,Orphanet+OMIM,OMIM:104500,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ib","[enamel hypoplasia, hereditary localized, Amelogenesis imperfecta, hypoplastic local, autosomal dominant, aih2]","Amelogenesis imperfecta type IB is an autosomal dominant disorder of tooth enamel biomineralization resulting in enamel hypoplasia (summary by {2:Brookes et al., 2017}).",[104500],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:15038,Active,Orphanet+OMIM,OMIM:104530,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ia","[Amelogenesis imperfecta, hypoplastic type ia]","Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see {8:Witkop, 1989}).",[104530],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:15039,Active,Orphanet+OMIM,OMIM:105650,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 1,"[aase syndrome, Dba, red cell aplasia, pure, hereditary, blackfan-diamond syndrome, aregenerative anemia, chronic congenital, erythrogenesis imperfecta, aase-smith syndrome ii, anemia, congenital hypoplastic, of blackfan and diamond, anemia, congenital erythroid hypoplastic]","Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {44:Landowski et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Diamond-Blackfan Anemia\n\nA locus for DBA (DBA2; {606129}) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 ({610629}), caused by mutation in the RPS24 gene ({602412}) on 10q22; DBA4 ({612527}), caused by mutation in the RPS17 gene ({180472}) on 15q; DBA5 ({612528}), caused by mutation in the RPL35A gene ({180468}) on 3q29; DBA6 ({612561}), caused by mutation in the RPL5 gene ({603634}) on 1p22.1; DBA7 ({612562}), caused by mutation in the RPL11 gene ({604175}) on 1p36; DBA8 ({612563}), caused by mutation in the RPS7 gene ({603658}) on 2p25; DBA9 ({613308}), caused by mutation in the RPS10 gene ({603632}) on 6p; DBA10 ({613309}), caused by mutation in the RPS26 ({603701}) gene on 12q; DBA11 ({614900}), caused by mutation in the RPL26 gene ({603704}) on 17p13; DBA12 ({615550}), caused by mutation in the RPL15 gene ({604174}) on 3p24; DBA13 ({615909}), caused by mutation in the RPS29 gene ({603633}) on 14q; DBA14 ({300946}), caused by mutation in the TSR2 gene ({300945}) on Xp11; DBA15 ({606164}), caused by mutation in the RPS28 gene ({603685}) on 19p13; DBA16 ({617408}), caused by mutation in the RPL27 gene ({607526}) on 17q21; DBA17 ({617409}), caused by mutation in the RPS27 gene ({603702}) on 1q21; DBA18 ({618310}), caused by mutation in the RPL18 gene ({604179}) on 19q; DBA19 ({618312}), caused by mutation in the RPL35 gene ({618315}) on 9q33; and DBA20 ({618313}), caused by mutation in the RPS15A gene ({603674}) on 16p.\n\n{7:Boria et al. (2010)} reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.\n\n{25:Gazda et al. (2012)} completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. {25:Gazda et al. (2012)} stated that in total these mutations account for approximately 54% of all DBA patients.\n\nIn a study of 98 Japanese patients with DBA, {64:Wang et al. (2015)} detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.",[105650],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:1504,Legacy,GARD,,,,,,,,,,,,Congenital stenosis of cervical medullary canal,TRUE,FALSE,Active +GARD:15040,Active,Orphanet+OMIM,OMIM:107000,Subtype of disorder,[Clinical subtype],"Nail disorder, nonsyndromic congenital, 6","[Anonychia/hyponychia and onychodystrophy, anonychia, partial]","Congenital absence of the nails is a rare condition. Some pedigrees display complete congenital absence of the nails (see, e.g., NDNC4, {206800}), whereas in other pedigrees there is only partial congenital anonychia, with the thumbs and great toes most severely affected and progressively less severe changes in the more lateral digits (summary by {2:Charteris, 1918}). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-6 (NDNC6).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050}).",[107000],[90390],[Anonychia-onychodystrophy syndrome],[710],,,,, +GARD:15041,Active,Orphanet+OMIM,OMIM:108420,Subtype of disorder,[Disease subtype],Spermatogenic failure 2,[Aspermiogenesis factor],"Spermatogenic failure-2 (SPGF2) is characterized by male infertility due to azoospermia ({14:Tang et al., 2020}; {1:Akbari et al., 2021}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[108420],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15042,Active,Orphanet+OMIM,OMIM:109543,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[109543],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15043,Active,Orphanet+OMIM,OMIM:109720,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 1",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {8:Kaplan, 1996}).\n\n<Subhead> Genetic Heterogeneity of Primary Biliary Cirrhosis\n\nPrimary biliary cirrhosis-1 (PBC1) is significantly associated with SNPs at the IL12A locus ({161560}) on chromosome 3q25.33.\n\nSignificant association of PBC has also been shown with SNPs at the HLA-DQB1 locus ({604305}) on chromosome 6p21.3 (PBC2; {613007}), at the IL12RB2 locus ({601642}) on chromosome 1p31.2 (PBC3; {613008}), at the IRF5 ({607218})-TNPO3 ({610032}) locus on chromosome 7q32 (PBC4; {614220}), and at the ZPBP2 locus ({608499}) on chromosome 17q12-q21 (PBC5; {614221}).\n\nSee also Reynolds syndrome ({613471}), in which primary biliary cirrhosis is a feature.",[109720],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15044,Active,Orphanet+OMIM,OMIM:109740,Subtype of disorder,[Malformation syndrome subtype],"Bifid nose, autosomal dominant",,,[109740],[2695],[Bifid nose],[884],,,,, +GARD:15045,Active,Orphanet+OMIM,OMIM:113700,Subtype of disorder,[Morphological anomaly subtype],"Breasts and/or nipples, aplasia or hypoplasia of, 1","[Amastia, athelia, amazia]","Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia ({305100}) and Poland syndrome ({173800}) (summary by {4:Papadimitriou et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Aplasia or Hypoplasia of Breasts and/or Nipples\n\nAn autosomal recessive form of breast and/or nipple aplasia or hypoplasia (BNAH2; {616001}) is caused by mutation in the PTPRF gene ({179590}) on chromosome 1p34.",[113700],[180188],[Isolated congenital breast hypoplasia/aplasia],[9489],,,,, +GARD:15046,Active,Orphanet+OMIM,OMIM:115660,Subtype of disorder,[Clinical subtype],Cataract 7,,"Cerulean cataract, first described by {4:Vogt (1922)}, is an autosomal dominant, early-onset, bilateral cataract with complete penetrance. Newborns appear asymptomatic until the age of 18 to 24 months, at which time they can be clinically diagnosed by slit-lamp examination through the appearance of tiny blue or white opacities that form first in the superficial layers of the fetal lens nucleus. The opacities progress throughout the adult lens nucleus and the cortex, forming concentric layers, with central lesions oriented radially. Histologically the lesions appear to be tapered cavities between lens fibers. Progression of the cataract is slow, such that patients may have lens extractions between the ages of 16 and 35 years ({1:Armitage et al., 1995}).\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Congenital, Cerulean Type, 1; CCA1.'",[115660],[98989],[Cerulean cataract],[9508],,,,, +GARD:15047,Active,Orphanet+OMIM,OMIM:116200,Subtype of disorder,[Malformation syndrome subtype],"Cataract 1, multiple types","[cataract, zonular pulverulent, 1, Cataract 1, multiple types, with or without microcornea, cataract, duffy-linked]","Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene.\n\nBefore it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1.",[116200],[1377],[Cataract-microcornea syndrome],[1155],,,,, +GARD:15048,Active,Orphanet+OMIM,OMIM:117550,Subtype of disorder,[Disease subtype],Sotos syndrome,"[chromosome 5q35 deletion syndrome, Cerebral gigantism, sotos syndrome 1, formerly]","Sotos syndrome (SOTOS) is a neurologic disorder characterized by overgrowth from the prenatal stage through childhood, with advanced bone age, an unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies and seizures, and impaired intellectual development (summary by {34:Kurotaki et al., 2002}).\n\nWeaver syndrome ({277590}), which shows considerable phenotypic overlap with Sotos syndrome, has been shown to be caused by mutation in the EZH2 gene ({601573}) on chromosome 7q36.",[117550],[821],[Sotos syndrome],[10091],,,,, +GARD:15049,Active,Orphanet+OMIM,OMIM:118100,Subtype of disorder,[Malformation syndrome subtype],"Klippel-feil syndrome 1, autosomal dominant","[cervical vertebral fusion, autosomal dominant, Kfs]","Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ({22:Tracy et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Klippel-Feil Syndrome\n\nAdditional forms of KFS include autosomal recessive KFS2 ({214300}), caused by mutation in the MEOX1 gene ({600147}) on chromosome 17q21, autosomal dominant KFS3 ({613702}), caused by mutation in the GDF3 gene ({606522}) on chromosome 12p13, and autosomal recessive KFS4 ({616549}), caused by mutation in the MYO18B gene ({607295}) on chromosome 22q12.\n\nSee also MURCS association ({601076}), in which Klippel-Feil anomaly is associated with urogenital anomalies.",[118100],[2345],[Isolated Klippel-Feil syndrome],[10280],,,,, +GARD:15050,Active,Orphanet+OMIM,OMIM:119100,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation with long bone deficiency 1,,"This form of split-hand/foot malformation with long bone deficiency (SHFLD1) maps to chromosome 1q42.2-q43.\n\nSee also SHFLD2 ({610685}), which maps to chromosome 6q14.1, and SHFLD3 ({612576}), which maps to chromosome 17p13.3-p13.1. Split-hand/foot malformation with fibular hypoplasia/aplasia has also been reported, see {113310}.",[119100],[3329],[Tibial aplasia-ectrodactyly syndrome],[1369],,,,, +GARD:15051,Active,Orphanet+OMIM,OMIM:120100,Subtype of disorder,[Disease subtype],Familial cold autoinflammatory syndrome 1,"[Fcas, cold-induced autoinflammatory syndrome, familial, cryopyrin-associated periodic syndrome 1, cold urticaria, familial, cold hypersensitivity]","Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' ({9:Kile and Rusk, 1940}) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis ({6:Hoffman et al., 2000}).\n\nOverlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; {191900}), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; {607115}), which shows earlier onset and a more severe phenotype.\n\n<Subhead> Genetic Heterogeneity of Familial Cold Autoinflammatory Syndrome\n\nSee also FCAS2 ({611762}), caused by mutation in the NLRP12 gene ({609648}) on chromosome 19q13; FCAS3 ({614468}), caused by mutation in the PLCG2 gene ({600220}) on chromosome 16q23; and FCAS4 ({616115}), caused by mutation in the NLRC4 gene ({606831}) on chromosome 2p22.",[120100],[47045],[Familial cold urticaria],[9535],,,,, +GARD:15052,Active,Orphanet+OMIM,OMIM:120435,Subtype of disorder,[Disease subtype],Lynch syndrome i,"[coca1, Colorectal cancer, hereditary nonpolyposis, type 1, colon cancer, familial nonpolyposis, type 1]","Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic cancer, and (2) Lynch syndrome II, or extracolonic cancer, particularly carcinoma of the stomach, endometrium (see {608089}), biliary and pancreatic system, and urinary tract ({50:Lynch and Lynch, 1979}; {51:Lynch et al., 1985}; {59:Mecklin and Jarvinen, 1991}). HNPCC disorders show a proclivity to early onset, predominant proximal location of colon cancer, a dominant pattern of inheritance, an excess of multiple primary cancers, and significantly improved survival when compared stage for stage with the American College of Surgeons Audit Series.\n\n{48:Lynch et al. (1991)} estimated that hereditary nonpolyposis colorectal cancer accounts for about 4 to 6% of colorectal cancer. The minimum criterion of HNPCC is that colorectal carcinoma is diagnosed and histologically verified in at least 3 relatives belonging to 2 or more successive generations. Moreover, the age of onset should be less than 50 years in at least 1 patient.\n\nThe Muir-Torre syndrome (MRTES; {158320}) is a form of Lynch syndrome II associated with sebaceous skin tumors.\n\n<Subhead> Genetic Heterogeneity of HNPCC\n\nHNPCC is a genetically heterogeneous disease. See also HNPCC2 ({609310}), caused by mutation in the MLH1 gene ({120436}); HNPCC4 ({614337}), caused by mutation in the PMS2 gene ({600259}); HNPCC5 ({614350}), caused by mutation in the MSH6 gene ({600678}); HNPCC6 ({614331}), caused by mutation in the TGFBR2 gene ({190182}); HNPCC7 ({614385}), caused by mutation in the MLH3 gene ({604395}). HNPCC8 ({613244}) results from epigenetic silencing of MSH2 caused by deletion of 3-prime exons of the EPCAM gene ({185535}) and intergenic regions directly upstream of the MSH2 gene.\n\nSince defects in the MSH2 gene may account for as many as 60% of HNPCC cases, and defects in the MLH1 gene may play a role in up to 30%, defects in these 2 genes likely account for the vast majority of HNPCC cases.",[120435],[144],[Lynch syndrome],[9905],,,,, +GARD:15053,Active,Orphanet+OMIM,OMIM:120502,Subtype of disorder,[Malformation syndrome subtype],Branchiootic syndrome 2,,"For a phenotypic description and a discussion of genetic heterogeneity of the branchiootic syndrome, see BOS1 ({602588}).",[120502],[52429],[Branchiootic syndrome],[10148],,,,, +GARD:15054,Active,Orphanet+OMIM,OMIM:121201,Subtype of disorder,[Disease subtype],"Seizures, benign familial neonatal, 2","[Convulsions, benign familial neonatal, 2]","Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clonic seizures in the first few days of life. Seizures tend to last for about a minute, may occur several times a day, and are responsive to medication. Almost all patients have full remission within the first months of life, although some rare patients may have a few seizures later in childhood. EEG, brain imaging, and psychomotor development are usually normal (summary by {2:Fister et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 ({121200}).",[121201],[1949],[Benign familial neonatal epilepsy],[1519],,,,, +GARD:15055,Active,Orphanet+OMIM,OMIM:123700,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal dominant 1",,"Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by {5:Davidson and Giro, 2002}).\n\nAutosomal dominant congenital cutis laxa (ADCL) is genetically heterogeneous and shows clinical variability. The characteristic loose skin may be accompanied by gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema (summary by {7:Graul-Neumann et al., 2008}).\n\nLoose, inelastic skin is a clinical feature of many disorders, e.g., geroderma osteodysplasticum (GO; {231070}) and Costello syndrome ({218040}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Cutis Laxa\n\nAlso see ADCL2 ({614434}), caused by mutation in the FBLN5 gene ({604580}) on chromosome 14q32, and ADCL3 ({616603}), caused by mutation in the ALDH18A1 ({138250}) gene on chromosome 10q24.",[123700],[90348],[Autosomal dominant cutis laxa],[1639],,,,, +GARD:15056,Active,Orphanet+OMIM,OMIM:124000,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 1",,"Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival ({2:de Lonlay et al., 2001}; {3:De Meirleir et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex III Deficiency\n\nMitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 ({615157}), caused by mutation in the TTC19 gene ({613814}) on chromosome 17p12; MC3DN3 ({615158}), caused by mutation in the UQCRB gene ({191330}) on chromosome 8q; MC3DN4 ({615159}), caused by mutation in the UQCRQ gene ({612080}) on chromosome 5q31; MC3DN5 ({615160}), caused by mutation in the UQCRC2 gene ({191329}) on chromosome 16p12; MC3DN6 ({615453}), caused by mutation in the CYC1 gene ({123980}) on chromosome 8q24; MC3DN7 ({615824}), caused by mutation in the UQCC2 gene ({614461}) on chromosome 6p21; MC3DN8 ({615838}), caused by mutation in the LYRM7 gene ({615831}) on chromosome 5q23; MC3DN9 ({616111}), caused by mutation in the UQCC3 gene ({616097}) on chromosome 11q12; and MC3DN10 ({618775}), caused by mutation in the UQCRFS1 gene ({191327}) on chromosome 19q12.\n\nSee also MTYCB ({516020}) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene.",[124000],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15057,Active,Orphanet+OMIM,OMIM:125250,Subtype of disorder,[Disease subtype],"Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",[Dominant optic atrophy plus syndrome],"Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes ({18:Yu-Wai-Man et al., 2010}).",[125250],[1215],[Autosomal dominant optic atrophy plus syndrome],[5243],,,,, +GARD:15058,Active,Orphanet+OMIM,OMIM:125800,Subtype of disorder,[Disease subtype],"Diabetes insipidus, nephrogenic, 2, autosomal","[Diabetes insipidus, nephrogenic, type ii]","Nephrogenic diabetes insipidus (NDI) is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; {192340}). Approximately 90% of patients are males with the X-linked recessive form, type I (NDI1; {304800}), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2; {300538}). The remaining 10% of patients have the autosomal form, type II (NDI2), caused by mutation in the AQP2 gene ({11:Morello and Bichet, 2001}).\n\nNeurogenic, or central, diabetes insipidus (CDI; {125700}) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.",[125800],[223],[Nephrogenic diabetes insipidus],[7178],,,,, +GARD:15059,Active,Orphanet+OMIM,OMIM:126050,Subtype of disorder,[Malformation syndrome subtype],Digitotalar dysmorphism,"[Ulnar drift, hereditary]",,[126050],[1146],[Distal arthrogryposis type 1],[787],,,,, +GARD:15060,Active,Orphanet+OMIM,OMIM:126700,Subtype of disorder,[Disease subtype],Basal laminar drusen,"[Drusen of bruch membrane, drusen, cuticular, drusen, early adult-onset, grouped]","Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. They appear as slightly raised, yellow subretinal nodules randomly scattered in the macula. 'Drusen' is the plural for 'Druse,' German for 'nodule' or 'crystal' (summary by {1:Bok, 2002}, {2:Boon et al., 2008}).",[126700],[75376],[Familial drusen],[1912],,,,, +GARD:15061,Active,Orphanet+OMIM,OMIM:128100,Subtype of disorder,[Disease subtype],"Dystonia 1, torsion, autosomal dominant","[Dystonia musculorum deformans 1, early-onset torsion dystonia]","'Dystonia' describes a neurologic condition characterized by involuntary, sustained muscle contractions affecting one or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. Dystonia has been classified as primary (dystonia as the sole or major symptom) or secondary (a symptom of another disorder), and by age of onset, muscle groups affected, and mode of inheritance ({42:Muller and Kupke, 1990}; {44:Nemeth, 2002}).",[128100],[256],[Early-onset generalized limb-onset dystonia],[2027],,,,, +GARD:15062,Active,Orphanet+OMIM,OMIM:129600,Subtype of disorder,[Malformation syndrome subtype],"Ectopia lentis 1, isolated, autosomal dominant",,"Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment ({11:Greene et al., 2010}).\n\nCiting the revised Ghent criteria for Marfan syndrome, {16:Loeys et al. (2010)} proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS).\n\n<Subhead> Genetic Heterogeneity of Isolated Ectopia Lentis\n\nAn autosomal recessive form of isolated ectopia lentis (ECTOL2; {225100}) is caused by mutation in the ADAMTSL4 gene ({610113}).",[129600],[1885],[Isolated ectopia lentis],[12251],,,,, +GARD:15063,Active,Orphanet+OMIM,OMIM:129900,Subtype of disorder,[Malformation syndrome subtype],"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1",,"This form of ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, designated EEC1, has been linked to chromosome 7q11.2-q21.3. Another form of the disorder, designated EEC3 ({604292}), is caused by mutation in the TP63 gene ({603273}).",[129900],[1896],[EEC syndrome],[2076],,,,, +GARD:15064,Active,Orphanet+OMIM,OMIM:130600,Subtype of disorder,[Disease subtype],Elliptocytosis 2,"[Elliptocytosis, rhesus-unlinked type]",,[130600],[288],[Hereditary elliptocytosis],[6621],,,,, +GARD:15065,Active,Orphanet+OMIM,OMIM:132100,Subtype of disorder,[Disease subtype],Photoparoxysmal response 1,,"The photoparoxysmal response (PPR), also referred to as photosensitivity, is defined as the abnormal occurrence of cortical spikes or spike and wave discharges on electroencephalogram (EEG) in response to intermittent light stimulation ({5:Doose and Waltz, 1993}).\n\nPhotosensitivity is a frequent finding in patients with idiopathic generalized epilepsy (see {600669}), especially those with juvenile myoclonic epilepsy, suggesting a common epileptogenic pathway for both phenomena. The comorbidity of the 2 disorders suggests that presence of PPR may also increase the risk for epilepsy ({9:Stephani et al., 2004}; {10:Tauer et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Photoparoxysmal Response\n\nThe PPR1 locus has been mapped to chromosome 6p21. See also PPR2 ({609572}), mapped to chromosome 13q31, and PPR3 ({609573}), mapped to chromosome 7q32.",[132100],[166409],[Photosensitive epilepsy],[5648],,,,, +GARD:15066,Active,Orphanet+OMIM,OMIM:133180,Subtype of disorder,[Disease subtype],"Erythroleukemia, familial, susceptibility to","[leukemia, acute myelogenous, m6, Di guglielmo disease, familial]","Familial erythroleukemia is a leukemic or preleukemic state in which red cell proliferation is the predominant feature. Hematologic characteristics include particularly ineffective and hyperplastic erythropoiesis with megaloblastic components accompanied by myeloblastic proliferation of varying degree ({11:Park et al., 2002}).\n\n{11:Park et al. (2002)} discussed the evolution of the definition of 'erythroleukemia,' which is considered by most to be a subtype of acute myelogenous leukemia (AML; {601626}). Controversy about the precise definition of erythroleukemia revolves around the number or percentage of erythroblasts and myeloblasts found in the bone marrow and peripheral circulation. In the French-American-British (FAB) classification system ({2:Bennett et al., 1985}), it is known as AML-M6, whereas in the revised World Health Organization (WHO) classification system ({6:Harris et al., 1999}), it is known as 'AML, not otherwise categorized' ({13:Zini and D'Onofrio, 2004}).",[133180],[318],[Acute erythroid leukemia],[9620],,,,, +GARD:15067,Active,Orphanet+OMIM,OMIM:133540,Subtype of disorder,[Clinical subtype],Cockayne syndrome b,,"Cockayne syndrome B (CSB) is a multisystem disorder characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer (summary by {5:Mallery et al., 1998}).\n\nCockayne syndrome A (CSA; {216400}) is caused by mutation in the ERCC8 gene ({609412}) on chromosome 5q11. Among patients with Cockayne syndrome, approximately 80% have mutations in the ERCC6 gene ({4:Licht et al., 2003}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Cockayne syndrome, see {216400}.",[133540],"[90321, 90322, 90324]","[Cockayne syndrome type 2, Cockayne syndrome type 1, Cockayne syndrome type 3]","[1417, 1415, 1420]",,,,, +GARD:15068,Active,Orphanet+OMIM,OMIM:133780,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 1,"[fevr, autosomal dominant, Exudative vitreoretinopathy, familial, autosomal dominant, criswick-schepens syndrome]","Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {22:Poulter et al., 2010}).\n\nIn 31 Chinese pedigrees clinically diagnosed with FEVR, {25:Rao et al. (2017)} analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene ({148760}) was identified in a patient who also exhibited microcephaly (MCLMR; {152950}). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered.\n\n<Subhead> Genetic Heterogeneity of Familial Exudative Vitreoretinopathy\n\nAlso see EVR2 ({305390}), caused by mutation in the NDP gene ({300658}) on chromosome Xp11; EVR3 ({605750}), mapped to 11p13-p12; EVR4 ({601813}), caused by mutations in the LRP5 gene ({603506}) on 11q13.4; EVR5 ({613310}), caused by mutation in the TSPAN12 gene ({613138}) on 7q31; EVR6 ({616468}), caused by mutation in the ZNF408 gene ({616454}) on 11p11; and EVR7 ({617572}), caused by mutation in the CTNNB1 gene ({116806}) on chromosome 3p22.",[133780],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:15069,Active,Orphanet+OMIM,OMIM:134610,Subtype of disorder,[Disease subtype],"Familial mediterranean fever, autosomal dominant","[Fmf, autosomal dominant]",,[134610],[342],[Familial Mediterranean fever],[6421],,,,, +GARD:1507,Legacy,GARD,,,,,,,,,,,,Congenital unilateral pulmonary hypoplasia,TRUE,FALSE,Active +GARD:15070,Active,Orphanet+OMIM,OMIM:135290,Subtype of disorder,[Disease subtype],"Desmoid disease, hereditary","[Fibromatosis, familial infiltrative]","Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP; {175100}), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene. The desmoid tumors are usually intraabdominal and, although benign, can be locally aggressive and result in significant morbidity. Desmoid tumors can also arise sporadically ({1:Couture et al., 2000}).",[135290],[873],[Desmoid tumor],[1820],,,,, +GARD:15071,Active,Orphanet+OMIM,OMIM:135500,Subtype of disorder,[Malformation syndrome subtype],Zimmermann-laband syndrome 1,"[Laband syndrome, fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly]","Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by {3:Balasubramanian and Parker, 2010}).\n\n<Subhead> Genetic Heterogeneity of Zimmermann-Laband Syndrome\n\nZLS2 ({616455}) is caused by mutation in the ATP6V1B2 gene ({606939}) on chromosome 8p21. ZLS3 ({618658}) is caused by mutation in the KCNN3 gene ({602983}) on chromosome 1q21.",[135500],[3473],[Zimmermann-Laband syndrome],[385],,,,, +GARD:15072,Active,Orphanet+OMIM,OMIM:135900,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 1,"[mental retardation, autosomal dominant 12, fifth digit syndrome, hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features, Coffin-siris syndrome]","Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by {40:Vergano and Deardorff, 2014}). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome ({43:Wieczorek et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Coffin-Siris Syndrome\n\nForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 ({614607}), caused by mutation in the ARID1A gene ({603024}); CSS3 ({614608}), caused by mutation in the SMARCB1 gene ({601607}); CSS4 ({614609}), caused by mutation in the SMARCA4 gene ({603254}); CSS5 ({616938}), caused by mutation in the SMARCE1 gene ({603111}); CSS6 ({617808}), caused by mutation in the ARID2 gene ({609539}); CSS7 ({618027}), caused by mutation in the DPF2 gene ({601671}); CSS8 ({618362}), caused by mutation in the SMARCC2 gene ({601734}); CSS9 ({615866}), caused by mutation in the SOX11 gene ({600898}); CSS10 ({618506}), caused by mutation in the SOX4 gene ({184430}); CSS11 ({618779}), caused by mutation in the SMARCD1 gene ({601735}); and CSS12 ({619325}), caused by mutation in the BICRA gene ({605690}).\n\nA similar phenotype, Nicolaides-Baraitser syndrome (NCBRS; {601358}), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 ({600014}).",[135900],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:15076,Active,Orphanet+OMIM,OMIM:142623,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 1","[aganglionic megacolon, megacolon, aganglionic, Hirschsprung disease]","The disorder described by {27:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid ({1:Amiel et al., 2008}). Total colonic aganglionosis and total intestinal HSCR also occur.\n\n<Subhead> Genetic Heterogeneity of Hirschsprung Disease\n\nSeveral additional loci for isolated Hirschsprung disease have been mapped. HSCR2 ({600155}) is associated with variation in the EDNRB gene ({131244}) on 13q22; HSCR3 ({613711}) is associated with variation in the GDNF gene ({600837}) on 5p13; HSCR4 ({613712}) is associated with variation in the EDN3 gene ({131242}) on 20q13; HSCR5 ({600156}) maps to 9q31; HSCR6 ({606874}) maps to 3p21; HSCR7 ({606875}) maps to 19q12; HSCR8 ({608462}) maps to 16q23; and HSCR9 ({611644}) maps to 4q31-q32.\n\nHSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome ({277580}), Mowat-Wilson syndrome ({235730}), Goldberg-Shprintzen syndrome ({609460}), and congenital central hypoventilation syndrome (CCHS; {209880}).\n\nWhereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by {1:Amiel et al., 2008}).",[142623],[388],[Hirschsprung disease],[6660],,,,, +GARD:15077,Active,Orphanet+OMIM,OMIM:144250,Subtype of disorder,[Etiological subtype],"Hyperlipidemia, familial combined, 3",[Familial combined hyperlipidemia],"Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B (APOB; {107730}). Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by {5:Bello-Chavolla et al., 2018}).\n\n{15:Goldstein et al. (1973)} gave the designation 'familial combined hyperlipidemia' to the most common genetic form of hyperlipidemia identified in a study of survivors of myocardial infarction. Affected persons characteristically showed elevation of both cholesterol and triglycerides in the blood. The combined disorder was shown to be distinct from familial hypercholesterolemia ({143890}) and from familial hypertriglyceridemia ({145750}) for the following reasons: (1) lipid distributions in relatives were unique; (2) unlike familial hypercholesterolemia, children of affected persons did not express hypercholesterolemia; and (3) informative matings suggested that variable expression of a single gene rather than segregation for 2 separate genes was responsible. This disorder leads to elevated levels of VLDL, LDL, or both in plasma. From time to time the pattern can change in a given person. Unlike familial hypercholesterolemia, hyperlipidemia appears in only 10 to 20% of patients in childhood, usually in the form of hypertriglyceridemia. Xanthomas are rare. Increased production of VLDL may be a common underlying metabolic characteristic in this disorder, which may be heterogeneous. The disorder may be 5 times as frequent as familial hypercholesterolemia, occurring in 1% of the U.S. population.\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Familial Combined Hyperlipidemia\n\nAlso see FCHL1 ({602491}), associated with variation in the USF1 gene ({191523}) on chromosome 1q23, and FCHL2 ({604499}), mapped to chromosome 11.",[144250],[309015],[Familial lipoprotein lipase deficiency],[12241],,,,, +GARD:15078,Active,Orphanet+OMIM,OMIM:146550,Subtype of disorder,[Disease subtype],Hypotrichosis 4,"[Marie unna hereditary hypotrichosis 1, hypotrichosis, marie unna type, 1]","Hypotrichosis-4 (HYPT4), also known as Marie Unna hereditary hypotrichosis-1 (MUHH1), is an autosomal dominant form of hair loss characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth. Coarse, wiry hair begins to grow during childhood. Around puberty, progressive hair loss occurs in the affected patients. Although the disorder has the potential to affect all hair shafts, progressive and patterned alopecia of the scalp is the main manifestation of the disorder (summary by {10:Mansur et al., 2010}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.\n\n<Subhead> Genetic Heterogeneity of Marie Unna Hereditary Hypotrichosis\n\nSee also MUHH2 (HYPT5; {612841}), caused by heterozygous mutation in the EPS8L3 gene (614989) on chromosome 1p13.",[146550],[444],[Marie Unna hereditary hypotrichosis],[3390],,,,, +GARD:15079,Active,Orphanet+OMIM,OMIM:147480,Subtype of disorder,[Disease subtype],"Cholestasis, intrahepatic, of pregnancy, 1","[Cholestasis, pregnancy-related, 1]","Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by {10:Pasmant et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Intrahepatic Cholestasis of Pregnancy\n\nSee also ICP3 ({614972}), caused by mutation in the ABCB4 gene ({171060}).",[147480],[69665],[Intrahepatic cholestasis of pregnancy],[9804],,,,, +GARD:1508,Legacy,GARD,,,,,,,,,,,,Congenital vagal hyperreflexivity,TRUE,FALSE,Active +GARD:15080,Active,Orphanet+OMIM,OMIM:148000,Subtype of disorder,[Disease subtype],"Kaposi sarcoma, susceptibility to","[Multiple idiopathic pigmented hemangiosarcoma, susceptibility to]","Kaposi sarcoma (KS) is an invasive angioproliferative inflammatory condition that occurs commonly in men infected with human immunodeficiency virus (HIV; see {609423}). In the early stages of KS, lesions appear reactive and are stimulated to grow by the actions of inflammatory cytokines and growth factors. In the late stages of KS, a malignant phenotype that appears to be monoclonal can develop. Infection with human herpesvirus-8 (HHV-8), also known as KS-associated herpesvirus (KSHV), is necessary but not sufficient for KS development. Coinfection with HIV markedly increases the likelihood of KS development, and additional environmental, hormonal, and genetic cofactors likely contribute to its pathogenesis (summary by {8:Foster et al., 2000}).\n\n{19:Suthaus et al. (2012)} noted that HHV-8 is the etiologic agent not only of KS, but also of primary effusion lymphoma and plasma cell-type multicentric Castleman disease (MCD).",[148000],[33276],[Kaposi sarcoma],[6814],,,,, +GARD:15081,Active,Orphanet+OMIM,OMIM:148600,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma, punctate type ia","[keratodermia palmoplantaris papulosa, buschke-fischer-brauer type, kppp1, Palmoplantar keratoderma, punctate type i, keratosis palmoplantaris papulosa]","Punctate palmoplantar keratoderma type I, also called keratosis punctate palmoplantaris type Buschke-Fisher-Brauer, is a rare autosomal dominant hereditary skin disease characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. There have been reports of an association between PPKP and the development of early- and late-onset malignancies, including squamous cell carcinoma (summary by {2:Giehl et al., 2012}).\n\nAnother form of PPKP type I has been mapped to chromosome 8q24 (PPKP1B; {614936}).\n\nOther forms of punctate palmoplantar keratoderma include a porokeratotic type (PPKP2; {175860}) and focal acrohyperkeratosis (PPKP3; {101850}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK ({144200}).",[148600],[79501],[Punctate palmoplantar keratoderma type 1],[3103],,,,, +GARD:15082,Active,Orphanet+OMIM,OMIM:153670,Subtype of disorder,[Disease subtype],"Bernard-soulier syndrome, type a2, autosomal dominant",,,[153670],[274],[Bernard-Soulier syndrome],[2470],,,,, +GARD:15083,Active,Orphanet+OMIM,OMIM:154230,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 4",,,[154230],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,,,, +GARD:15086,Active,Orphanet+OMIM,OMIM:157600,Subtype of disorder,[Disease subtype],Mirror movements 1,"[mirror movements, congenital, bimanual synergia, Mirror movements 1 and/or agenesis of the corpus callosum]","Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are occasionally found in normal young children, persistence beyond the age of 10 years is abnormal. Congenital mirror movements tend to persist throughout adulthood and tend to occur more commonly in the upper extremities (summary by {10:Sharafaddinzadeh et al., 2008} and {12:Srour et al., 2010}). Some patients with DCC mutations have agenesis of the corpus callosum ({6:Marsh et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Mirror Movements\n\nSee also MRMV2 ({614508}), caused by mutation in the RAD51 gene ({179617}) on chromosome 15q15; MRMV3 ({606059}), caused by mutation in the DNAL4 gene ({610565}) on chromosome 22q13; and MRMV4 ({618264}), caused by mutation in the NTN1 gene ({601614}) on chromosome 17p13.",[157600],[238722],[Familial congenital mirror movements],[12551],,,,, +GARD:15087,Active,Orphanet+OMIM,OMIM:158900,Subtype of disorder,[Disease subtype],Facioscapulohumeral muscular dystrophy 1,,"Facioscapulohumeral muscular dystrophy (FSHD) is a progressive skeletal muscle disorder with a highly variable phenotpye. Most patients present as adults, although about 10% show symptoms before the age of 5 years, including from infancy in some cases. In general, the disease initially involves the upper body, including the face and the scapulae, followed by weakness at the foot dorsiflexors and hip girdles. Typical features are striking asymmetry of muscle involvement from side to side and sparing of bulbar extraocular and respiratory muscles. There is significant clinical variability, even within families, as well as incomplete penetrance. FSHD1 accounts for about 95% of patients. Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD; {310200}) and myotonic ({160900}) dystrophy ({81:Tawil et al., 1998}; {94:van den Boogaard et al., 2016}; {30:Johnson and Ankala, 2020}; {72:Schatzl et al., 2021}).\n\n{65:Richards et al. (2012)} and {72:Schatzl et al. (2021)} provided detailed reviews of FSHD, including clinical features, genetics, diagnosis, pathogenesis, and potential therapeutic avenues.\n\n<Subhead> Genetic Heterogeneity of FSHD\n\nSeveral other genetic forms of FSHD that are clinically indistinguishable from FSHD1, but not associated with physical contraction of the D4Z4 microsatellite repeat, have been identified. Historically, these forms have collectively been called 'FSHD2.' Tissue from patients with 'FSHD2' shows D4Z4 hypomethylation on chromosomes 4 and 10, suggesting the presence of unique transactivating factors, some of which have been identified. Genetic forms of FSHD other than FSHD1 account for about 5% of patients overall (summary by {25:Hamanaka et al., 2020}; {30:Johnson and Ankala, 2020}; review by {72:Schatzl et al., 2021}).\n\nFSHD2 ({158901}) is caused by mutation in the SMCHD1 gene ({614982}) on chromosome 18p11; FSHD3 ({619477}) by mutation in the LRIF1 gene ({615354}) on chromosome 1p13; and FSHD4 ({619478}) by mutation in the DMNT3B gene ({602900}) on chromosome 20q11. Patients with FSHD2, FSHD3, and FSHD4 also carry a 'permissive haplotype' on chromosome 4 (4qA) that promotes DUX4 ({606009}) expression. There is significant clinical variability and incomplete penetrance.",[158900],[269],[Facioscapulohumeral dystrophy],[9941],,,,, +GARD:15088,Active,Orphanet+OMIM,OMIM:158901,Subtype of disorder,[Disease subtype],"Facioscapulohumeral muscular dystrophy 2, digenic","[muscular dystrophy, facioscapulohumeral, type 2, muscular dystrophy, facioscapulohumeral, type 1b, Fshd2, digenic]","Facioscapulohumeral muscular dystrophy-2 (FSHD2) is a form of muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities. The pattern of weakness is usually asymmetric (summary by {3:Lemmers et al., 2012}).\n\nFor a discussion of genetic heterogeneity of FSHD, see FSHD1 ({158900}), which is associated with physical contraction of D4Z4 macrosatellite repeats (see {606009}) in the subtelomeric region of chromosome 4q35. The pathogenesis of FSHD1 and FSHD2 converge at the level of D4Z4 chromatin relaxation and inappropriate expression of DUX4 in skeletal muscle (summary by {3:Lemmers et al., 2012}).",[158901],[269],[Facioscapulohumeral dystrophy],[9941],,,,, +GARD:15089,Active,Orphanet+OMIM,OMIM:159050,Subtype of disorder,[Disease subtype],"Muscular dystrophy, pseudohypertrophic, with internalized capillaries",,"{1:Hastings et al. (1980)} described 2 unrelated families, each with father and son with pseudohypertrophic muscular dystrophy. The paternal grandfather in 1 family may have been affected also. The phenotype resembled that of Becker muscular dystrophy ({300376}). The mothers showed no evidence of carrier status, but both fathers had pseudohypertrophic calves and one gave a history of weakness in childhood with subsequent improvement. Muscle histology in all 4 showed changes like those of Becker muscular dystrophy with, in addition, central cores and internalized capillaries in type I fibers. The internalized capillaries were considered unique to this disorder.",[159050],[98895],[Becker muscular dystrophy],[5900],,,,, +GARD:1509,Legacy,GARD,,,,,,,,,,,,Connective tissue dysplasia Spellacy type,TRUE,FALSE,Retired +GARD:15090,Active,Orphanet+OMIM,OMIM:160980,Subtype of disorder,[Disease subtype],"Carney complex, type 1","[carney syndrome, Carney myxoma-endocrine complex, lamb syndrome, myxoma, spotty pigmentation, and endocrine overactivity, name syndrome]","Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS; {174800}), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS; {175200}). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas ({17:Kirschner et al., 2000}; {34:Stratakis et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Carney Complex\n\nCarney complex type 2 (CNC2; {605244}) has been mapped to chromosome 2p16, indicating genetic heterogeneity.\n\nSee also isolated primary pigmented nodular adrenocortical disease (PPNAD1; {610489}) and isolated cardiac myxoma ({255960}), both of which are manifestations of the Carney complex that can be seen in isolation.\n\nA family with features of the Carney complex and distal arthrogryposis ({608837}) associated with a mutation in the MYH8 gene ({160741}) has also been reported.",[160980],[1359],[Carney complex],[1119],,,,, +GARD:15091,Active,Orphanet+OMIM,OMIM:161400,Subtype of disorder,[Disease subtype],Narcolepsy 1,[Narcoleptic syndrome 1],"{1:Adie (1926)} first delineated narcolepsy as a separate and specific entity. It is a sleep disorder characterized by attacks of disabling daytime drowsiness and low alertness. The normal physiologic components of rapid eye movement (REM) sleep, dreaming and loss of muscle tone, are separated and also occur while the subject is awake, resulting in half-sleep dreams and episodes of skeletal muscle paralysis and atonia (cataplexy and sleep paralysis). Unlike normal sleep, that of narcolepsy often begins with REM activity and the time taken to fall asleep is shorter than normal.\n\nIn contrast to animal models, human narcolepsy is not a simple genetic disorder. Most human cases of narcolepsy are sporadic and carry a specific HLA haplotype ({37:Peyron et al., 2000}). Familial cases are the exception rather than the rule, and monozygotic twins show only partial concordance (25 to 31%) ({31:Mignot, 1998}).\n\n<Subhead> Genetic Heterogeneity of Narcolepsy\n\nAdditional narcolepsy loci have been mapped to chromosomes 4 (NRCLP2; {605841}), 21q (NRCLP3; {609039}), 22q13 (NRCLP4; {612417}), 14q11 (NRCLP5; {612851}), and 19p13.2 (NRCLP6; {614223}). NRCLP7 ({614250}) is caused by mutation in the MOG gene ({159465}) on chromosome 6p22. Resistance to narcolepsy is associated with minor alleles of a SNP and a marker in the NLC1A gene ({610259}) on chromosome 21q22.",[161400],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15092,Active,Orphanet+OMIM,OMIM:161550,Subtype of disorder,[Disease subtype],"Nasopharyngeal carcinoma, susceptibility to, 2",,"Nasopharyngeal carcinoma is a multifactorial malignancy associated with both genetic and environmental factors. The cancer arises from the epithelium of the nasopharynx (summary by {6:Tse et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 ({607107}).",[161550],[150],[Nasopharyngeal carcinoma],[7163],,,,, +GARD:15093,Active,Orphanet+OMIM,OMIM:613956,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 6","[Candidiasis, familial chronic mucocutaneous, autosomal dominant]",,[613956],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15094,Active,Orphanet+OMIM,OMIM:162260,Subtype of disorder,[Disease subtype],"Neurofibromatosis, type iii, mixed central and peripheral","[nf iii, Neurofibromatosis, type iii, of riccardi, Neurofibromas, palmar cutaneous, included, neurofibromatosis, type iii, riccardi type]",,[162260],[93921],[Schwannomatosis],[4768],,,,, +GARD:15095,Active,Orphanet+OMIM,OMIM:162400,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory and autonomic, type ia","[neuropathy, hereditary sensory radicular, autosomal dominant, type 1a, neuropathy, hereditary sensory, type ia, hsn ia, hsan1, Hsan ia]","Hereditary sensory and autonomic neuropathy type IA (HSAN1A) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic (summary by {31:Rotthier et al., 2010} and {18:Gantner et al., 2019}). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits ({16:Fridman et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Sensory and Autonomic Neuropathy\n\nSee also HSAN1C ({613640}), caused by mutation in the SPTLC2 gene ({605713}) on 14q24; HSN1D ({613708}), caused by mutation in the ATL1 gene ({606439}) on 14q22; HSN1E ({614116}), caused by mutation in the DNMT1 gene ({126375}) on 19p13; HSN1F ({615632}), caused by mutation in the ATL3 gene ({609369}) on 11q13; HSAN2A ({201300}), caused by mutation in the HSN2 isoform of the WNK1 gene ({605232}) on 12p13; HSAN2B ({613115}), caused by mutation in the FAM134B gene ({613114}) on 5p15; HSN2C ({614213}), caused by mutation in the KIF1A gene ({601255}) on 2q37; HSAN2D (see {243000}), caused by mutation in the SCN9A gene ({603415}) on 2q24; HSAN3 ({223900}), caused by mutation in the ELP1 gene ({603722}) on 9q31; HSAN4 ({256800}), caused by mutation in the NTRK1 gene ({191315}) on 1q23; HSAN5 ({608654}), caused by mutation in the NGF gene ({162030}) on 1p13; HSAN6 ({614653}), caused by mutation in the DST gene ({113810}) on 6p12; HSAN7 ({615548}), caused by mutation in the SCN11A gene ({604385}) on 3p22; and HSAN8 ({616488}), caused by mutation in the PRDM12 gene ({616458}) on chromosome 9q34.\n\nAdult-onset HSAN with anosmia ({608720}) may be another distinct form of HSAN, and HSAN1B ({608088}) with cough and gastroesophageal reflux maps to chromosome 3p24-p22.",[162400],[36386],[Hereditary sensory and autonomic neuropathy type 1],[6635],,,,, +GARD:15096,Active,Orphanet+OMIM,OMIM:163500,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, autosomal dominant 2","[Night blindness, congenital stationary, rambusch type]",,[163500],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15097,Active,Orphanet+OMIM,OMIM:164310,Subtype of disorder,[Disease subtype],Oculopharyngodistal myopathy 1,"[Oculopharyngodistal myopathy, faciooculolaryngopharyngeal myopathy with distal and respiratory involvement]","Oculopharyngodistal myopathy-1 (OPDM1) is an autosomal dominant disorder characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. Skeletal muscle biopsy shows myopathic changes with rimmed vacuoles. There are variable manifestations of the disorder regarding muscle involvement and severity (summary by {2:Ishiura et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Oculopharyngodistal Myopathy\n\nSee also OPDM2 ({618940}), caused by trinucleotide repeat expansion in the GIPC1 gene ({605072}) on chromosome 19p13, and OPDM3 ({619473}), caused by trinucleotide repeat expansion in the NOTCH2NLC gene ({618025}) on chromosome 1q21.\n\nOculopharyngeal muscular dystrophy (OPMD; {164300}) is a similar disorder with overlapping features. It is caused by a similar heterozygous trinucleotide repeat expansion in the PABPN1 gene ({602279}) (summary by {1:Durmus et al., 2011}).",[164310],[98897],[Oculopharyngodistal myopathy],[12592],,,,, +GARD:15098,Active,Orphanet+OMIM,OMIM:165200,Subtype of disorder,[Disease subtype],Optic atrophy with demyelinating disease of cns,,"{1:Lees et al. (1964)} described a kindred in 5 generations of which 12 males and 3 females were affected with optic neuritis accompanied in some by neurologic manifestations resembling disseminated sclerosis. One had ataxia, right leg weakness and dysarthria. Another developed left hemiparesis during a 2-week period and then recovered partially. {2:Went (1974)} expressed the opinion that this kindred is an example of Leber optic atrophy ({535000}) and not a separate entity.",[165200],[99718],[Leber plus disease],[8476],,,,, +GARD:15099,Active,Orphanet+OMIM,OMIM:165500,Subtype of disorder,[Disease subtype],Optic atrophy 1,"[Optic atrophy, juvenile, optic atrophy, kjer type, kjer-type optic atrophy]","Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density ({37:Votruba et al., 1998}).\n\nSome patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes ({42:Yu-Wai-Man et al., 2010}).\n\n{43:Yu-Wai-Man et al. (2009)} provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON; {535000}), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders.\n\n<Subhead> Genetic Heterogeneity of Optic Atrophy\n\nAlso see optic atrophy-2 (OPA2; {311050}), mapped to chromosome Xp11.4-p11.21; OPA3 ({165300}), caused by mutation in the OPA3 gene ({606580}) on chromosome 19q13; OPA4 ({605293}), mapped to chromosome 18q12.2-q12.3; OPA5 ({610708}), caused by mutation in the DNM1L gene ({603850}) on chromosome 12p11; OPA6 ({258500}), mapped to chromosome 8q21-q22; OPA7 ({612989}), caused by mutation in the TMEM126A gene ({612988}) on chromosome 11q14; OPA8 ({616648}), mapped to chromosome 16q21-q22; OPA9 ({616289}), caused by mutation in the ACO2 gene ({100850}) on chromosome 22q13; OPA10 ({616732}), caused by mutation in the RTN4IP1 gene ({610502}) on chromosome 6q21; OPA11 ({617302}), caused by mutation in the YME1L1 gene ({607472}) on chromosome 10p12; OPA12 ({618977}), caused by mutation in the AFG3L2 gene ({604581}) on chromosome 18p11; and OPA13 ({165510}), caused by mutation in the SSBP1 gene ({600439}) on chromosome 7q34.",[165500],[98673],"[Autosomal dominant optic atrophy, classic form]",[9890],,,,, +GARD:151,Legacy,GARD,,,,,,,,,,,,Samson Gardner syndrome,TRUE,FALSE,Active +GARD:15100,Active,Orphanet+OMIM,OMIM:166230,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures",,"{1:Beighton (1981)} reported a kindred in which 20 members in at least 3 generations had opalescent teeth, blue sclerae, wormian bones, and normal height. In the 6 affected individuals who had skeletal surveys, moderate generalized osteoporosis was noted; the older individuals had mild flattening and biconcavity of the vertebral bodies. Only 1 affected individual, an adolescent male, had pronounced platybasia and had sustained 10 femoral fractures on mild trauma. Only the proband had hearing loss. No individuals had joint hyperextensibility. It is not known whether the syndrome is the same as OI type I ({166200}).",[166230],[216796],[Osteogenesis imperfecta type 1],[8694],,,,, +GARD:15101,Active,Orphanet+OMIM,OMIM:167100,Subtype of disorder,[Malformation syndrome subtype],"Hypertrophic osteoarthropathy, primary, autosomal dominant","[Pho, autosomal dominant, pdp, autosomal dominant, pachydermoperiostosis, autosomal dominant]","Autosomal dominant primary hypertrophic osteoarthropathy (PHOAD) is characterized by 3 major features: digital clubbing, periostosis, and pachydermia. Patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females ({4:Lee et al., 2016}; {8:Xu et al., 2021}).\n\n{7:Touraine et al. (1935)} recognized pachydermoperiostosis (PDP) as a familial disorder with 3 presentations or forms: a complete form with periostosis and pachydermia, an incomplete form without pachydermia, and a forme fruste with pachydermia and minimal skeletal changes.\n\n<Subhead> Genetic Heterogeneity\n\nAutosomal recessive forms of PHO have been reported (see {259100}), including PHOAR2 ({614441}), which is also caused by mutation in the SLCO2A1 gene.",[167100],[2796],[Pachydermoperiostosis],[7299],,,,, +GARD:15102,Active,Orphanet+OMIM,OMIM:167200,Subtype of disorder,[Disease subtype],Pachyonychia congenita 1,"[Pachyonychia congenita, jadassohn-lewandowsky type, formerly, jadassohn-lewandowsky syndrome, formerly]","Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {29:Sybert, 2010}; {6:Eliason et al., 2012}; {18:McLean et al., 2011}).\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{9:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{25:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {30:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.\n\n<Subhead> Genetic Heterogeneity of Pachyonychia Congenita\n\nSee pachyonychia congenita-2 (PC2; {167210}), caused by mutation in the KRT17 gene ({148069}) on chromosome 17; PC3 ({615726}), caused by mutation in the KRT6A gene ({148041}) on chromosome 2; and PC4 ({615728}), caused by mutation or in the KRT6B gene ({148042}) on chromosome 12.\n\nSee {260130} for a possible autosomal recessive form of pachyonychia congenita.",[167200],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:15103,Active,Orphanet+OMIM,OMIM:167210,Subtype of disorder,[Disease subtype],Pachyonychia congenita 2,"[Pachyonychia congenita, jackson-lawler type, formerly]","Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {13:Sybert, 2010}; {2:Eliason et al., 2012}; {7:McLean et al., 2011}).\n\nFor a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{4:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{11:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {14:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.",[167210],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:15104,Active,Orphanet+OMIM,OMIM:167755,Subtype of disorder,[Morphological anomaly subtype],"Pancreas, dorsal, agenesis of",,"Partial dorsal agenesis, or congenital short pancreas, is characterized by the presence of the accessory papilla, the terminal end of the main dorsal duct of Santorini, or the pancreatic body. All of these structures are missing in complete dorsal agenesis of the pancreas ({1:Wildling et al., 1993}).",[167755],[2805],[Partial pancreatic agenesis],[4203],,,,, +GARD:15105,Active,Orphanet+OMIM,OMIM:171300,Subtype of disorder,[Disease subtype],Pheochromocytoma,"[Pheochromocytoma, susceptibility to]","Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary ({29:Maher and Eng, 2002}; {13:Dluhy, 2002}).\n\n{3:Bolande (1974)} introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.\n\n{28:Knudson and Strong (1972)} applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.\n\n{29:Maher and Eng (2002)} reviewed the clinical entities and genes associated with pheochromocytoma.",[171300],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,,,, +GARD:15106,Active,Orphanet+OMIM,OMIM:175510,Subtype of disorder,[Disease subtype],Gist-plus syndrome,"[Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, formerly]","GIST-plus syndrome (GISTPS) is an autosomal dominant disorder characterized by incomplete penetrance of multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor (GIST), inflammatory fibroid polyps (IFP), and fibroid tumors (FT). Some patients have been reported with coarse facies and skin, broad hands and feet, and premature tooth loss. Isolated GISTs and IFPs are seen in patients with somatic PDGFRA mutations (summary by {8:Manley et al., 2018}).",[175510],[44890],[Gastrointestinal stromal tumor],[8598],,,,, +GARD:15107,Active,Orphanet+OMIM,OMIM:175780,Subtype of disorder,[Etiological subtype],Brain small vessel disease 1 with or without ocular anomalies,"[Hemiplegia, infantile, with porencephaly, leukoencephalopathy with axenfeld-rieger anomaly, porencephaly, type 1, autosomal dominant, formerly, porencephaly 1, formerly, porencephaly, type 1, formerly, brain small vessel disease with hemorrhage, brain small vessel disease with axenfeld-rieger anomaly, retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant]","Brain small vessel disease-1 is an autosomal dominant disorder with variable manifestations resulting from disruption of vascular basement membranes, particularly in the cerebral vasculature. The increased fragility of these vessels render them susceptible to hemorrhage, as early as in utero or by birth trauma, although the risk remains throughout life and some patients may present in adulthood. This genetic predisposition may extend beyond hemorrhagic stroke to include retinal and renal vascular defects. Clinical features thus reflect the location and severity of the vascular defect, including impaired neurologic development or function, hemiplegia, seizures, and variable ocular anomalies. The disturbed vasculature leads to cerebral degeneration, and brain imaging typically shows 'porencephaly,' hemosiderin deposition, calcifications, lacunar infarcts, enlarged ventricles, and leukoencephalopathy. Some patients may show 'schizencephaly' on brain imaging, which is also attributed to encephaloclastic processes, such as vascular injury. The disorder shows variable penetrance and expressivity (summary by {16:Merello et al., 2008}, {9:Gould et al., 2006}; {21:Shah et al., 2012}; {27:van der Knaap et al., 2006}; {29:Yoneda et al., 2013}).\n\n'Porencephaly' is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called 'schizencephalic', or type 2, porencephaly, is usually symmetric and may represent a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common ({2:Airaksinen, 1984}; {20:Sensi et al., 1990}).\n\n<Subhead> Genetic Heterogeneity of Brain Small Vessel Disease\n\nSee also BSVD2 ({614483}), caused by mutation in the COL4A2 gene ({120090}) on chromosome 13q34; and BSVD3 ({618360}), caused by mutation in the COLGALT1 gene ({617531}) on chromosome 19p13.",[175780],[99810],[Familial porencephaly],[2258],,,,, +GARD:15108,Active,Orphanet+OMIM,OMIM:175800,Subtype of disorder,[Disease subtype],"Porokeratosis 1, multiple types",[Porokeratosis of mibelli],"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({10:Schamroth et al., 1997}). However, as noted by {11:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and several individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as porokeratosis of Mibelli, porokeratoma, genital porokeratosis, hyperkeratotic porokeratosis, and linear porokeratosis.\n\nThe preferred title of this entry was formerly 'Porokeratosis 1, Mibelli Type; POROK1.'\n\n<Subhead> Genetic Heterogeneity of Porokeratosis\n\nAlso see porokeratosis-2 (POROK2; {175850}), mapped to chromosome 12q24; POROK3 ({175900}), caused by mutation in the MVK gene ({251170}) on chromosome 12q24; POROK4 ({607728}), mapped to chromosome 15q25-q26; POROK5 ({612293}), mapped to chromosome 1p31; POROK6 ({612353}), mapped to chromosome 1p31; POROK7 ({614714}), caused by mutation in the MVD gene ({603236}) on chromosome 16q24; POROK8 ({616063}), caused by mutation in the SLC17A9 gene ({612107}) on chromosome 20q13; and POROK9 ({616631}), caused by mutation in the FDPS gene ({134629}) on chromosome 1q22.\n\nA palmoplantar form of punctate porokeratosis has also been described (PPKP2; {175860}).\n\n<Subhead> Genotype/Phenotype Correlations\n\n{14:Zhang et al. (2015)} screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified mutations in the MVK, MVD, PMVK, and FDPS genes in 113 patients. The authors noted that giant plaque-type porokeratosis ptychotropica with lesion diameters of at least 5 cm appeared to be uniquely associated with mutation in MVK; it was observed in 19 (50%) of 38 MVK probands, but not in patients with mutations in any of the other 3 genes or in the 21 probands in whom no mutation was found. MVK patients also showed the widest range in terms of the number and size of lesions, as well as presence of porokeratosis subtypes. In patients with MVD mutations, the age of onset ranged from 5 to 70 years, and lesion diameters were generally less than 2 cm. In addition, 6 of the 62 MVD probands exhibited solar facial porokeratosis, which was not seen in any other patients. Localized genital porokeratosis and porokeratoma appeared to be uniquely associated with mutation in the PMVK gene, whereas patients with mutations in the FDPS gene had more than 500 lesions, all with diameters of 1 cm or less.",[175800],[735],[Porokeratosis of Mibelli],[4438],,,,, +GARD:15109,Active,Orphanet+OMIM,OMIM:179900,Subtype of disorder,[Disease subtype],Retinal aplasia,[Amaurosis congenita],"{2:Sorsby and Williams (1960)} observed a family with multiple cases of retinal aplasia in which inheritance was autosomal dominant. 'Retinal aplasia' is the British term for what is called 'congenital amaurosis' on the continent. Much genetic heterogeneity exists as evidenced by the demonstration of both autosomal dominant and autosomal recessive forms. This disorder, which might be called an autosomal dominant form of Leber amaurosis congenita, must be very rare. {1:Heckenlively (1988)} reported a 6-generation family with a severe progressive retinal degeneration beginning in infancy.",[179900],[65],[Leber congenital amaurosis],[634],,,,, +GARD:15110,Active,Orphanet+OMIM,OMIM:180105,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 10,,"Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses ({5:Jordan et al., 1993}; {1:Bowne et al., 2002}; {2:Bowne et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[180105],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15111,Active,Orphanet+OMIM,OMIM:180210,Subtype of disorder,[Disease subtype],"Retinopathy, pericentral pigmentary, dominant",,"{1:Grondahl (1987)} diagnosed autosomal dominant pericentral retinal dystrophy in 4 families from northern Norway. Three of these families had a pigmentary retinal degeneration of night blindness starting in the teens and leading to blindness in the sixth and seventh decades of life, after the development of bony spicules, attenuation of retinal blood vessels, and retinal atrophy. Thus, the changes were quite different from those in the sibs reported by {2:Traboulsi et al. (1988)}; see {268060}.",[180210],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15112,Active,Orphanet+OMIM,OMIM:181460,Subtype of disorder,[Disease subtype],"Schistosoma mansoni infection, susceptibility/resistance to",,,[181460],[1247],[Schistosomiasis],[9687],,,,, +GARD:15113,Active,Orphanet+OMIM,OMIM:182950,Subtype of disorder,[Disease subtype],Spinal arachnoiditis,,,[182950],[137817],[Arachnoiditis],[5839],,,,, +GARD:15114,Active,Orphanet+OMIM,OMIM:184100,Subtype of disorder,[Disease subtype],"Spondyloepiphyseal dysplasia tarda, autosomal dominant",,,[184100],[93284],[Spondyloepiphyseal dysplasia tarda],[10624],,,,, +GARD:15115,Active,Orphanet+OMIM,OMIM:186500,Subtype of disorder,[Malformation syndrome subtype],Multiple synostoses syndrome 1,"[symphalangism-brachydactyly syndrome, deafness-symphalangism syndrome of herrmann, Synostoses, multiple, with brachydactyly, wl syndrome, facioaudiosymphalangism syndrome]","Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by {16:Takahashi et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Multiple Synostoses Syndrome\n\nOther forms of multiple synostoses syndrome include SYNS2 ({610017}), caused by mutation in the GDF5 gene ({601146}) on chromosome 20q11; SYNS3 ({612961}), caused by mutation in the FGF9 gene ({600921}) on chromosome 13q12; and SYNS4 ({617898}), caused by mutation in the GDF6 gene ({601147}) on chromosome 8q22.",[186500],[3237],[Multiple synostoses syndrome],[3836],,,,, +GARD:15116,Active,Orphanet+OMIM,OMIM:187760,Subtype of disorder,[Malformation syndrome subtype],Thoracolaryngopelvic dysplasia,[Barnes syndrome],,[187760],[3317],[Thoracolaryngopelvic dysplasia],[5184],,,,, +GARD:15117,Active,Orphanet+OMIM,OMIM:187900,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 17","[Thrombasthenia-thrombocytopenia, hereditary]","Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by {4:Monteferrario et al., 2014}).",[187900],[721],[Gray platelet syndrome],[2562],,,,, +GARD:15118,Active,Orphanet+OMIM,OMIM:188400,Subtype of disorder,[Malformation syndrome subtype],Digeorge syndrome,"[hypoplasia of thymus and parathyroids, Chromosome 22q11.2 deletion syndrome, third and fourth pharyngeal pouch syndrome]","DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; {192430}); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.",[188400],[567],[22q11.2 deletion syndrome],[10299],,,,, +GARD:15119,Active,Orphanet+OMIM,OMIM:188580,Subtype of disorder,[Disease subtype],"Thyrotoxic periodic paralysis, susceptibility to, 1",,"Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP; {170400}), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by {9:Kung, 2006}).\n\n<Subhead> Genetic Heterogeneity of Thyrotoxic Periodic Paralysis\n\nSee also TTPP2 ({613239}), conferred by variation in the KCNJ18 gene ({613236}) on chromosome 17p11, and TTPP3 ({614834}), mapped to chromosome 17q24.",[188580],[79102],[Thyrotoxic periodic paralysis],[10814],,,,, +GARD:1512,Active,Orphanet,ORPHA:972,Disorder,[Disease],Hereditary continuous muscle fiber activity,,"Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.",[160120],,,,,Hereditary continuous muscle fiber activity,TRUE,FALSE,Active +GARD:15120,Active,Orphanet+OMIM,OMIM:188700,Subtype of disorder,[Malformation syndrome subtype],"Blount disease, infantile","[tibia vara, infantile, Osteochondrosis deformans tibiae, infantile]","Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by {7:Sabharwal, 2009}).",[188700],[2768],[Blount disease],[916],,,,, +GARD:15121,Active,Orphanet+OMIM,OMIM:191100,Subtype of disorder,[Disease subtype],Tuberous sclerosis 1,"[Tuberous sclerosis complex, tuberose sclerosis]","Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by {19:Crino et al., 2006} and {20:Curatolo et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Tuberous Sclerosis\n\nSee also tuberous sclerosis-2 ({613254}), which is caused by mutation in the TSC2 gene ({191092}) on chromosome 16p13.\n\nApproximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease ({19:Crino et al., 2006}) (see GENOTYPE/PHENOTYPE CORRELATIONS section).",[191100],[805],[Tuberous sclerosis complex],[7830],,,,, +GARD:15122,Active,Orphanet+OMIM,OMIM:191480,Subtype of disorder,[Disease subtype],Uncombable hair syndrome 1,"[pili trianguli et canaliculi, Uncombable hair syndrome]","Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by {14:U. Basmanav et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Uncombable Hair Syndrome\n\nSee UHS2 ({617251}), caused by mutation in the TGM3 gene ({600238}) on chromosome 20p12, and UHS3 ({617252}), caused by mutation in the TCHH gene ({190370}) on chromosome 1q21.",[191480],[1410],[Uncombable hair syndrome],[5404],,,,, +GARD:15123,Active,Orphanet+OMIM,OMIM:192430,Subtype of disorder,[Malformation syndrome subtype],Velocardiofacial syndrome,"[Chromosome 22q11.2 deletion syndrome, vcf syndrome, shprintzen vcf syndrome]",,[192430],[567],[22q11.2 deletion syndrome],[10299],,,,, +GARD:15124,Active,Orphanet+OMIM,OMIM:194070,Subtype of disorder,[Disease subtype],Wilms tumor 1,[Nephroblastoma],"Wilms tumor is the most common renal tumor of childhood, occurring with an incidence of 1 in 10,000 and with a median age of diagnosis between 3 and 4 years of age. Wilms tumors are thought to develop from abnormally persistent embryonal cells within nephrogenic rests. Histologically, Wilms tumor mirrors the development of the normal kidney and classically consists of 3 cell types: blastema, epithelia, and stroma (summary by {90:Slade et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Wilms Tumor\n\nSusceptibility to Wilms tumor is genetically heterogeneous. WT2 ({194071}) is caused by mutation in the H19/IGF2-imprinting control region (ICR1; {616186}) on chromosome 11p15. WT3 ({194090}) represents a locus mapped to chromosome 16q. WT4 ({601363}) represents a locus mapped to chromosome 17q12-q21. WT5 ({601583}) is caused by mutation in the POU6F2 gene ({609062}) on chromosome 7p14. WT6 ({616806}) is caused by mutation in the REST gene ({600571}) on chromosome 4q12.\n\nMutations in the BRCA2 gene ({600185}) have also been reported in Wilms tumor. Rare somatic and constitutional disruption of the HACE1 gene ({610876}) has also been reported in Wilms tumor.\n\nSomatic mutations in the glypican-3 gene (GPC3; {300037}) have been described in Wilms tumor. Somatic mutations in the WTX gene ({300647}) on the single X allele in tumors from males and on the active X allele in tumors from females have also been described.",[194070],[654],[Nephroblastoma],[7892],,,,, +GARD:15125,Active,Orphanet+OMIM,OMIM:194090,Subtype of disorder,[Disease subtype],Wilms tumor 3,,"For a general phenotypic description and a discussion of genetic heterogeneity of Wilms tumor, see WT1 ({194070}).",[194090],[654],[Nephroblastoma],[7892],,,,, +GARD:15126,Active,Orphanet+OMIM,OMIM:194380,Subtype of disorder,[Disease subtype],Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema,"[xerocytosis, hereditary, Dehydrated hereditary stomatocytosis, pseudohyperkalemia, familial, 1, due to red cell leak, desiccytosis, hereditary, pseudohyperkalemia edinburgh]","Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by {42:Zarychanski et al., 2012}). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by {1:Albuisson et al., 2013}).\n\nDehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria ({38:Tiffert et al., 2005}). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).\n\nThe 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by {17:Iolascon et al., 1999}).\n\n{7:Carella et al. (2004)} noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. {12:Gore et al. (2004)} stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree.\n\n<Subhead> Genetic Heterogeneity of Hereditary Stomatocytosis\n\nDehydrated hereditary stomatocytosis-2 (DHS2; {616689}) is caused by mutation in the KCNN4 gene ({602754}) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2; {609153}), is caused by mutation in the ABCB6 gene ({605452}) on chromosome 2q35. Cryohydrocytosis (CHC; {185020}) is caused by mutation in the SLC4A1 gene ({109270}) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN; {608885}) is caused by mutation in the SLC2A1 gene ({138140}) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST; {185000}) is caused by mutation in the RHAG gene ({180297}) on chromosome 6p12.\n\nSee {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome.\n\n<Subhead> Reviews\n\n{9:Delaunay (2004)} reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.\n\n{6:Bruce (2009)} provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. {6:Bruce (2009)} suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.\n\n{20:King and Zanella (2013)} provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis ({266140}); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. {19:King et al. (2015)} reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.",[194380],[3202],[Dehydrated hereditary stomatocytosis],[5623],,,,, +GARD:15127,Active,Orphanet+OMIM,OMIM:200100,Subtype of disorder,[Disease subtype],Abetalipoproteinemia,"[Acanthocytosis, mtp deficiency, bassen-kornzweig syndrome, microsomal triglyceride transfer protein deficiency]","Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; {615558}) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by {20:Lee and Hegele, 2014}).",[200100],[14],[Abetalipoproteinemia],[5],,,,, +GARD:15128,Active,Orphanet+OMIM,OMIM:201000,Subtype of disorder,[Malformation syndrome subtype],Carpenter syndrome 1,"[Carpenter syndrome, acrocephalopolysyndactyly type ii, acps ii]","Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by {2:Altunhan et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Carpenter Syndrome\n\nCarpenter syndrome-2 (CRPT2; {614976}), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene ({604267}).",[201000],[65759],[Carpenter syndrome],[6003],,,,, +GARD:15129,Active,Orphanet+OMIM,OMIM:201300,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory and autonomic, type iia","[acroosteolysis, giaccai type, neuropathy, hereditary sensory radicular, autosomal recessive, morvan disease, neuropathy, hereditary sensory, type iia, neuropathy, congenital sensory, acroosteolysis, neurogenic, hsn iia, Hsan iia, neuropathy, progressive sensory, of children]",,[201300],[970],[Hereditary sensory and autonomic neuropathy type 2],[3976],,,,, +GARD:1513,Active,Orphanet,ORPHA:725,Disorder,[Disease],Continuous spikes and waves during sleep,"[CSWS, CSWSS syndrome, Continuous spikes and waves during slow-wave sleep, Epileptic encephalopathy with continuous spike-and-wave during slow sleep]","Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.",[245570],,,,,Continuous spike-wave during slow sleep syndrome,TRUE,FALSE,Active +GARD:15130,Active,Orphanet+OMIM,OMIM:201310,Subtype of disorder,[Malformation syndrome subtype],"Acrorenal syndrome, autosomal recessive",,"{3:Miltenyi et al. (1992)} described a brother and sister with tetraectrodactyly and oligomeganephronic renal hypoplasia. {2:Miltenyi et al. (1984)} described a brother who died at the age of 27 months of renal insufficiency. Five years later the mother gave birth to a girl with the same disorder. The girl required chronic peritoneal dialysis after the age of 4 years. Her feet showed typical lobster claw deformity. On both hands, only the fourth and fifth fingers were present with clinodactyly of the latter one. {1:Akl (1994)} described a 4-year-old boy who had chronic renal failure secondary to focal segmental glomerular sclerosis as well as abnormalities of the right hand. The parents were first cousins. A female sib, 1 year of age, and a 1-year-old male first cousin had chronic renal failure; neither had hand abnormalities. The fathers, who were brothers, married their first cousins, who were sisters.",[201310],[971],[Acrorenal syndrome],[514],,,,, +GARD:15131,Active,Orphanet+OMIM,OMIM:202155,Subtype of disorder,[Disease subtype],"Adrenal hypoplasia, cytomegalic type",,"Congenital hypoplasia of the adrenal glands occurs as an X-linked disorder ({300200}) and as an autosomal recessive disorder ({240200}). The histologic findings are different in the two: the X-linked form is sometimes referred to as the cytomegalic type because of the large cells present as the only remaining cortical tissue. In the autosomal recessive form, there is absence or near absence of both fetal and permanent cortex, resulting in what is sometimes called the 'miniature adult' type because the small adrenal cortex consists almost exclusively of permanent cortex. {1:Kruger et al. (1993)} presented the case of a female small-for-dates infant who died at age 7 weeks and was found to have cytomegalic congenital adrenal hypoplasia. The second child of the same parents was also a girl with adrenocortical insufficiency; at the age of 1 year, her adrenal glands could not be identified by computed tomography.",[202155],[95702],[X-linked adrenal hypoplasia congenita],[555],,,,, +GARD:15132,Active,Orphanet+OMIM,OMIM:202300,Subtype of disorder,[Disease subtype],"Adrenocortical carcinoma, hereditary",,"Adrenocortical carcinoma (ADCC) is a rare but aggressive childhood tumor, representing about 0.4% of childhood tumors, with a high incidence of associated tumors. ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome ({130650}) and is a component tumor in Li-Fraumeni syndrome (LFS; {151623}).",[202300],[1501],[Adrenocortical carcinoma],[558],,,,, +GARD:15133,Active,Orphanet+OMIM,OMIM:202355,Subtype of disorder,[Disease subtype],Adrenocortical unresponsiveness to acth with postreceptor defect,[Familial glucocorticoid deficiency due to defect distal to acth receptor],"{2:Yamaoka et al. (1992)} described a 26-year-old Japanese male and his 29-year-old male cousin referred for hyperpigmentation and found to have unresponsiveness to ACTH, which they suggested might be due to a pathogenic defect occurring after cAMP generation. Although the patients showed increased plasma ACTH, decreased plasma cortisol and dehydroepiandrosterone, and no steroidogenic response to exogenous ACTH, they responded normally to both furosemide administration and to a low sodium diet by showing increases in plasma aldosterone. ACTH receptors in peripheral blood mononuclear leukocytes were normal in contrast to the deficiency reported by {1:Smith et al. (1987)} in a patient with the usual form of hereditary adrenocortical unresponsiveness to ACTH ({202200}). ACTH receptors in monocytes from these patients were similar to those from a normal control subject in both number and affinity.",[202355],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:15134,Active,Orphanet+OMIM,OMIM:202370,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 2b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {2:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX5 gene have cells of complementation group 2 (CG2). For information on the history of PBD complementation groups, see {214100}.",[202370],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15135,Active,Orphanet+OMIM,OMIM:203655,Subtype of disorder,[Disease subtype],Alopecia universalis congenita,"[Atrichia, generalized]","Alopecia universalis congenita is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair ({7:Nothen et al., 1998}).\n\nThis rare disorder is clearly distinct from alopecia areata (AA1; {104000}), which has an autoimmune basis with probable genetic predisposition.",[203655],[701],[Alopecia universalis],[614],,,,, +GARD:15136,Active,Orphanet+OMIM,OMIM:204650,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ic","[amelogenesis imperfecta, hypoplastic, with or without open-bite malocclusion, autosomal recessive, Amelogenesis imperfecta, local hypoplastic type, autosomal recessive]",,[204650],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:15137,Active,Orphanet+OMIM,OMIM:205100,Subtype of disorder,[Disease subtype],"Amyotrophic lateral sclerosis 2, juvenile","[Als, juvenile]",,[205100],[300605],[Juvenile amyotrophic lateral sclerosis],[11901],,,,, +GARD:15138,Active,Orphanet+OMIM,OMIM:205250,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis with polyglucosan bodies,,"{2:Orthner et al. (1973)} reported 2 sisters with onset of ALS at 38 and 39 years of age, and death after 14 and 26 months, respectively. Weakness began in the arms and later involved the legs. Bulbar signs and symptoms followed. Autopsy showed marked loss of motor neurons. Polyglucosan bodies were found in perikarya in the cortex and cerebellum. {1:Barz et al. (1976)} reported 2 sporadic cases.",[205250],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15139,Active,Orphanet+OMIM,OMIM:208085,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, renal dysfunction, and cholestasis 1",[Arc syndrome],,[208085],[2697],[Arthrogryposis-renal dysfunction-cholestasis syndrome],[794],,,,, +GARD:15140,Active,Orphanet+OMIM,OMIM:208500,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 1 with or without polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {15:Huber and Cormier-Daire, 2012} and {33:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\n<Subhead> Genetic Heterogeneity of Asphyxiating Thoracic Dysplasia\n\nSRTD1 has been mapped to chromosome 15q13. See also SRTD2 ({611263}), caused by mutation in the IFT80 gene ({611177}); SRTD3 ({613091}), caused by mutation in the DYNC2H1 gene ({603297}); SRTD4 ({613819}), caused by mutation in the TTC21B gene ({612014}); SRTD5 ({614376}), caused by mutation in the WDR19 gene ({608151}); SRTD6 ({263520}), caused by mutation in the NEK1 gene ({604588}); SRTD7 ({614091}), caused by mutation in the WDR35 gene ({613602}); SRTD8 ({615503}), caused by mutation in the WDR60 gene ({615462}); SRTD9 ({266920}), caused by mutation in the IFT140 gene ({614620}); SRTD10 ({615630}), caused by mutation in the IFT172 gene ({607386}); SRTD11 ({615633}), caused by mutation in the WDR34 gene ({613363}); SRTD13 ({616300}), caused by mutation in the CEP120 gene ({613446}); SRTD14 ({616546}), caused by mutation in the KIAA0586 gene ({610178}); SRTD15 ({617088}), caused by mutation in the DYNC2LI1 gene ({617083}); SRTD16 ({617102}), caused by mutation in the IFT52 gene ({617094}); SRTD17 ({617405}), caused by mutation in the TCTEX1D2 gene ({617353}); SRTD18 ({617866}), caused by mutation in the IFT43 gene ({614068}); SRTD19 ({617895}), caused by mutation in the IFT81 gene ({605489}); SRTD20 ({617925}), caused by mutation in the INTU gene ({610621}); and SRTD21 ({619479}), caused by mutation in the KIAA0753 gene ({617112}).\n\nSee also SRTD12 (Beemer-Langer syndrome; {269860}).",[208500],[474],[Jeune syndrome],[3049],,,,, +GARD:15141,Active,Orphanet+OMIM,OMIM:208910,Subtype of disorder,[Disease subtype],Ataxia-telangiectasia with generalized skin pigmentation and early death,,"{1:Tsukahara et al. (1986)} described 2 Japanese sisters with ataxia-telangiectasia that had typical clinical and laboratory features except for marked generalized skin pigmentation and unusually early death (at 15 months in the first born). Skin pigmentation was already present at 3 months of age in the first born and appeared at 7 months in the second affected child. Autopsy of the older child provided no obvious explanation for the hyperpigmentation. The anterior pituitary was described as containing 'occasional cells with large hyperchromic, bizarre or doughnut-shaped nuclei.'",[208910],[100],[Ataxia-telangiectasia],[5862],,,,, +GARD:15142,Active,Orphanet+OMIM,OMIM:210400,Subtype of disorder,[Malformation syndrome subtype],"Bifid nose, autosomal recessive","[nose, median cleft of, Median fissure of nose]",,[210400],[2695],[Bifid nose],[884],,,,, +GARD:15143,Active,Orphanet+OMIM,OMIM:210600,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 1,"[bird-headed dwarfism, nanocephalic dwarfism, seckel-type dwarfism, microcephalic primordial dwarfism i, Sckl]","Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance ({19:Shanske et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Seckel Syndrome\n\nOther forms of Seckel syndrome include SCKL2 ({606744}), caused by mutation in the RBBP8 gene ({604124}) on chromosome 18q11; SCKL4 ({613676}), caused by mutation in the CENPJ gene ({609279}) on chromosome 13q12; SCKL5 ({613823}), caused by mutation in the CEP152 gene ({613529}) on chromosome 15q21; SCKL6 ({614728}), caused by mutation in the CEP63 gene ({614724}) on chromosome 3q22; SCKL7 ({614851}), caused by mutation in the NIN gene ({608684}) on chromosome 14q22; SCKL8 ({615807}), caused by mutation in the DNA2 gene ({601810}) on chromosome 10q21; SCKL9 ({616777}), caused by mutation in the TRAIP gene ({605958}) on chromosome 3p21; and SCKL10 ({617253}), caused by mutation in the NSMCE2 gene ({617246}) on chromosome 8q24.\n\nThe report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by {10:Kilinc et al. (2003)} was found to be in error; see History section.",[210600],[808],[Seckel syndrome],[8562],,,,, +GARD:15144,Active,Orphanet+OMIM,OMIM:210710,Subtype of disorder,[Malformation syndrome subtype],"Microcephalic osteodysplastic primordial dwarfism, type i","[brachymelic primordial dwarfism, low-birth-weight dwarfism with skeletal dysplasia, taybi-linder syndrome, osteodysplastic primordial dwarfism, type i, cephaloskeletal dysplasia, Mopd i]","Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by {17:Pierce and Morse, 2012}).",[210710],[2636],[Microcephalic osteodysplastic primordial dwarfism types I and III],[5120],,,,, +GARD:15145,Active,Orphanet+OMIM,OMIM:210730,Subtype of disorder,[Malformation syndrome subtype],"Microcephalic osteodysplastic primordial dwarfism, type iii","[mopd, sicilian fairy type, osteodysplastic primordial dwarfism, type iii, mopd, caroline crachami type, microcephalic osteodysplastic primordial dwarfism, caroline crachami type, microcephalic osteodysplastic primordial dwarfism, sicilian fairy type, Mopd iii]",,[210730],[2636],[Microcephalic osteodysplastic primordial dwarfism types I and III],[5120],,,,, +GARD:15146,Active,Orphanet+OMIM,OMIM:211900,Subtype of disorder,[Clinical subtype],"Tumoral calcinosis, hyperphosphatemic, familial, 1","[Tumoral calcinosis, hyperphosphatemic, familial, lipocalcinogranulomatosis, tumoral calcinosis, primary hyperphosphatemic, teutschlaender disease, familial, cortical hyperostosis with hyperphosphatemia, morbus teutschlaender, calcinosis, tumoral, with hyperphosphatemia, hyperostosis-hyperphosphatemia syndrome, hyperostosis with hyperphosphatemia]","Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone ({9:Chefetz et al., 2005}). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 ({605380}) or GALNT3 gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement ({15:Frishberg et al., 2005}), {23:Ichikawa et al. (2010)} concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.\n\nHFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; {193100}), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption ({9:Chefetz et al., 2005}; {26:Ichikawa et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Hyperphosphatemic Familial Tumoral Calcinosis\n\nAlso see HFTC2 ({617993}), caused by mutation in the FGF23 gene ({605380}) on chromosome 12p13, and HFTC3 ({617994}), caused by mutation in the KL gene ({604824}) on chromosome 13q13. Most cases are caused by mutation in the GALNT3 gene.",[211900],[306661],[Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome],[10879],,,,, +GARD:15148,Active,Orphanet+OMIM,OMIM:212080,Subtype of disorder,[Disease subtype],"Cardiac lipidosis, familial",,,[212080],[137675],[Histiocytoid cardiomyopathy],[9511],,,,, +GARD:15149,Active,Orphanet+OMIM,OMIM:214110,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 2a (zellweger),,"The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.",[214110],[912],[Zellweger syndrome],[7917],,,,, +GARD:1515,Active,Orphanet,ORPHA:1484,Disorder,[Malformation syndrome],Contractures-ectodermal dysplasia-cleft lip/palate syndrome,[Ladda-Zonana-Ramer syndrome],"A rare ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.",[301815],,,,,"Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay",TRUE,FALSE,Active +GARD:15150,Active,Orphanet+OMIM,OMIM:214150,Subtype of disorder,[Clinical subtype],Cerebrooculofacioskeletal syndrome 1,"[pena-shokeir syndrome, type ii, Cofs syndrome]","Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by {4:Jaakkola et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Cerebrooculofacioskeletal Syndrome\n\nSee also COFS2 ({610756}), caused by mutation in the ERCC2 gene ({126340}); COFS3 ({616570}), caused by mutation in the ERCC5 gene ({133530}); and COFS4 ({610758}), caused by mutation in the ERCC1 gene ({126380}).",[214150],[1466],[COFS syndrome],[6027],,,,, +GARD:15151,Active,Orphanet+OMIM,OMIM:214300,Subtype of disorder,[Malformation syndrome subtype],"Klippel-feil syndrome 2, autosomal recessive","[Kfs, autosomal recessive, cervical vertebral fusion, autosomal recessive]","Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ({12:Tracy et al., 2004}).\n\n{3:Clarke et al. (1998)} proposed a classification system for KFS in which an autosomal recessive form is characterized by the most rostral fusion at C1 and the presence of severe associated anomalies, including short neck, cardiac defects, and craniofacial anomalies.\n\nFor a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 ({118100}).",[214300],[2345],[Isolated Klippel-Feil syndrome],[10280],,,,, +GARD:15152,Active,Orphanet+OMIM,OMIM:215450,Subtype of disorder,[Disease subtype],"Chorea, benign familial",,"Both a dominant (see {118700}) and a recessive form may exist. {3:Nutting et al. (1969)} described 3 affected sibs out of 5 with phenotypically normal, nonconsanguineous parents. {1:Chun et al. (1973)} described 4 affected sibs out of 7, again with normal, unrelated parents. Reduced penetrance in 1 parent is possible. {2:Damasio et al. (1977)} described the disorder in a brother and sister with normal parents.",[215450],[1429],[Benign hereditary chorea],[1305],,,,, +GARD:15153,Active,Orphanet+OMIM,OMIM:216360,Subtype of disorder,[Disease subtype],Coach syndrome 1,"[cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis, Coach syndrome, joubert syndrome with congenital hepatic fibrosis]","COACH syndrome is an autosomal recessive disorder characterized by impaired intellectual development, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; see {213300}) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding ({1:Brancati et al., 2009}; {3:Doherty et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of COACH Syndrome\n\nAlso see COACH syndrome-2 (COACH2; {619111}), caused by mutation in in the CC2D2A gene ({612013}), and COACH syndrome-3 (COACH3; {619113}), caused by mutation in the RPGRIP1L gene ({610937}).\n\nMost cases of COACH syndrome are caused by mutation in the TMEM67 gene.",[216360],[1454],[Joubert syndrome with hepatic defect],[1410],,,,, +GARD:15154,Active,Orphanet+OMIM,OMIM:216400,Subtype of disorder,[Clinical subtype],Cockayne syndrome a,,"Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection ({36:Nance and Berry, 1992}).\n\n{26:Lowry (1982)} noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. {26:Lowry (1982)} thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. {29:Mallery et al. (1998)} found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment.\n\n<Subhead> Genetic Heterogeneity of Cockayne Syndrome\n\nCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B ({133540}), caused by mutation in the ERCC6 gene ({609413}) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene ({133530}) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene ({133510}) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene ({133520}) on chromosome 16p13.\n\n{48:Rapin et al. (2000)} reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.",[216400],"[90321, 90322, 90324]","[Cockayne syndrome type 2, Cockayne syndrome type 1, Cockayne syndrome type 3]","[1417, 1415, 1420]",,,,, +GARD:15155,Active,Orphanet+OMIM,OMIM:216950,Subtype of disorder,[Disease subtype],Complement component c1r/c1s deficiency,[C1r/c1s deficiency],,[216950],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,,,, +GARD:15156,Active,Orphanet+OMIM,OMIM:218300,Subtype of disorder,[Malformation syndrome subtype],Craniodiaphyseal dysplasia,,,[218300],[1513],[Craniodiaphyseal dysplasia],[1567],,,,, +GARD:15157,Active,Orphanet+OMIM,OMIM:219100,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal recessive, type ia","[cutis laxa, autosomal recessive, Arcl1]","Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classical Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by {11:Davidson and Giro, 2002}).\n\nThe clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa (ARCL1) is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. Diminution of elastic fibers throughout the dermis and abnormal elastin components by electron microscopy are pathognomonic (summary by {24:Morava et al., 2009}).\n\nClassification of autosomal recessive cutis laxa is further divided into type II (ARCL2), associated with bone dystrophy, joint laxity, and developmental delay; and type III (ARCL3), or de Barsy syndrome, which presents very severe symptoms, with ocular involvement and mental retardation (summary by {11:Davidson and Giro, 2002}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see {123700}.\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Cutis Laxa\n\nAlso see ARCL1B ({614437}), caused by mutation in the FBLN4 gene (EFEMP2; {604633}), and ARCL1C ({613177}), caused by mutation in the LTBP4 gene (FAM72A; {614710}).\n\nARCL2A ({219200}) is caused by mutation in the ATP6V0A2 gene ({611716}). ARCL2B ({612940}) is caused by mutation in the PYCR1 gene ({179035}). ARCL2C ({617402}) is caused by mutation in the ATP6V1E1 gene ({108746}). ARCL2D ({617403}) is caused by mutation in the ATP6V1A gene ({607027}). ARCL2E ({619451}) is caused by mutation in the LTBP1 gene ({150390}).\n\nARCL3A ({219150}) is caused by mutation in the ALDH18A1 gene ({138250}). ARCL3B ({614438}) is caused by mutation in the PYCR1 gene ({179035}).",[219100],[90349],[Autosomal recessive cutis laxa type 1],[8480],,,,, +GARD:15158,Active,Orphanet+OMIM,OMIM:220110,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 1","[Mitochondrial complex iv deficiency, cytochrome c oxidase deficiency, cox deficiency]","Mitochondrial complex IV deficiency nuclear type 1 (MC4DN1) is an autosomal recessive metabolic disorder characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills between about 5 and 18 months of age after normal early development. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, and poor eye contact. Other features may include oculomotor abnormalities, including slow saccades, strabismus, ophthalmoplegia, and nystagmus, as well as deafness, apneic episodes, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Some patients may also have abnormalities in the brainstem and cerebellum. Laboratory studies usually show increased serum and CSF lactate and decreased levels and activity of mitochondrial respiratory complex IV in patient tissues. There is phenotypic variability, but death in childhood, often due to central respiratory failure, is common (summary by {32:Tiranti et al., 1998}; {33:Tiranti et al., 1999}; {31:Teraoka et al., 1999}; {22:Poyau et al., 2000})\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex IV Deficiency\n\nMost isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare ({30:Shoubridge, 2001}; {26:Sacconi et al., 2003}).\n\nMitochondrial complex IV deficiency caused by mutation in nuclear-encoded genes, in addition to MC4DN1, include MC4DN2 ({604377}), caused by mutation in the SCO2 gene ({604272}); MC4DN3 ({619046}), caused by mutation in the COX10 gene ({602125}); MC4DN4 ({619048}), caused by mutation in the SCO1 gene ({603664}); MC4DN5 ({220111}), caused by mutation in the LRPPRC gene ({607544}); MC4DN6 ({615119}), caused by mutation in the COX15 gene ({603646}); MC4DN7 ({619051}), caused by mutation in the COX6B1 gene ({124089}); MC4DN8 ({619052}), caused by mutation in the TACO1 gene ({612958}); MC4DN9 ({616500}), caused by mutation in the COA5 gene ({613920}); MC4DN10 ({619053}), caused by mutation in the COX14 gene ({614478}); MC4DN11 ({619054}), caused by mutation in the COX20 gene ({614698}); MC4DN12 ({619055}), caused by mutation in the PET100 gene ({614770}); MC4DN13 ({616501}), caused by mutation in the COA6 gene ({614772}); MC4DN14 ({619058}), caused by mutation in the COA3 gene ({614775}); MC4DN15 ({619059}), caused by mutation in the COX8A gene ({123870}); MC4DN16 ({619060}), caused by mutation in the COX4I1 gene ({123864}); MC4DN17 ({619061}), caused by mutation in the APOPT1 gene ({616003}); MC4DN18 ({619062}), caused by mutation in the COX6A2 gene ({602009}); MC4DN19 ({619063}), caused by mutation in the PET117 gene ({614771}); MC4DN20 ({619064}), caused by mutation in the COX5A gene ({603773}); and MC4DN21 ({619065}), caused by mutation in the COXFA4 gene ({603883}).\n\nMitochondrial complex IV deficiency has been associated with mutations in several mitochondrial genes, including MTCO1 ({516030}), MTCO2 ({516040}), MTCO3 ({516050}), MTTS1 ({590080}), MTTL1 ({590050}), and MTTN ({590010}).",[220110],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:15159,Active,Orphanet+OMIM,OMIM:220111,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 5","[Cytochrome c oxidase deficiency, french canadian type, cox deficiency, french canadian type, cox deficiency, saguenay-lac-saint-jean type, leigh syndrome, french canadian type, leigh syndrome, saguenay-lac-saint-jean type]","Mitochondrial complex IV deficiency nuclear type 5 (MC4DN5) is an autosomal recessive severe metabolic multisystemic disorder with onset in infancy. Features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. There is increased serum lactate and episodic hypoglycemia. Some patients may have cardiomyopathy, abnormal breathing, or liver abnormalities, reflecting systemic involvement. Brain imaging shows lesions in the brainstem and basal ganglia, consistent with a diagnosis of Leigh syndrome (see {256000}). Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by {2:Debray et al., 2011}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[220111],[70472],"[Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type]",[8370],,,,, +GARD:1516,Active,Orphanet,ORPHA:1662,Disorder,[Disease],Restrictive dermopathy,"[Lethal hyperkeratosis-contracture syndrome, Lethal restrictive dermopathy, Lethal tight skin-contracture syndrome]","A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.",[275210],,,,,"Tight skin contracture syndrome, lethal",TRUE,FALSE,Active +GARD:15160,Active,Orphanet+OMIM,OMIM:220210,Subtype of disorder,[Malformation syndrome subtype],Ritscher-schinzel syndrome 1,"[3c syndrome, dandy-walker-like malformation with atrioventricular septal defect, Craniocerebellocardiac dysplasia]","The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have delayed psychomotor development (summary by {10:Leonardi et al., 2001}; {4:Elliott et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Ritscher-Schinzel Syndrome\n\nSee also RTSC2 ({300963}), caused by mutation in the CCDC22 gene ({300859}) on chromosome Xp11; RTSC3 ({619135}), caused by mutation in the VPS35L gene ({618981}) on chromosome 16p12; and RTSC4 ({619435}), caused by mutation in the DPYSL5 gene ({608383}) on chromosome 2p23.",[220210],[7],[3C syndrome],[5666],,,,, +GARD:15161,Active,Orphanet+OMIM,OMIM:222400,Subtype of disorder,[Morphological anomaly subtype],Diaphragmatic hernia 2,,"For a general phenotypic description and a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 ({142340}).",[222400],[2140],[Congenital diaphragmatic hernia],[1481],,,,, +GARD:15162,Active,Orphanet+OMIM,OMIM:224690,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 1,"[Ear, patella, short stature syndrome, meier-gorlin syndrome, microtia, absent patellae, micrognathia syndrome]","The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by {16:Shalev and Hall, 2003}). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal ({1:Bicknell et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Meier-Gorlin Syndrome\n\nMost forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 ({613800}), caused by mutation in the ORC4 gene ({603056}) on chromosome 2q23; Meier-Gorlin syndrome-3 ({613803}), caused by mutation in the ORC6 gene ({607213}) on chromosome 16q11; Meier-Gorlin syndrome-4 ({613804}), caused by mutation in the CDT1 gene ({605525}) on chromosome 16q24; Meier-Gorlin syndrome-5 ({613805}), caused by mutation in the CDC6 gene ({602627}) on chromosome 17q21; Meier-Gorlin syndrome-7 ({617063}), caused by mutation in the CDC45L gene ({603465}) on chromosome 22q11; and Meier-Gorlin syndrome-8 ({617564}), caused by mutation in the MCM5 gene ({602696}) on chromosome 22q12.\n\nAn autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 ({616835}), is caused by mutation in the GMNN gene ({602842}) on chromosome 6p22.",[224690],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15163,Active,Orphanet+OMIM,OMIM:224900,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive","[Ectodermal dysplasia, hypohidrotic, ectodermal dysplasia, anhidrotic]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {1:Cluzeau et al., 2011}).",[224900],[248],[Autosomal recessive hypohidrotic ectodermal dysplasia],[2057],,,,, +GARD:15164,Active,Orphanet+OMIM,OMIM:225200,Subtype of disorder,[Malformation syndrome subtype],Ectopia lentis et pupillae,[Ectopia lentis with ectopia of pupil],"Ectopia lentis et pupillae is a congenital hereditary disorder in which there is displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions (summary by {5:Cruysberg and Pinckers, 1995}). Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disc, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy (summary by {3:Christensen et al., 2010}).",[225200],[1885],[Isolated ectopia lentis],[12251],,,,, +GARD:15165,Active,Orphanet+OMIM,OMIM:225250,Subtype of disorder,[Morphological anomaly subtype],"Hypothyroidism, congenital, nongoitrous, 5",,,[225250],"[95720, 95712, 95713]","[Thyroid ectopia, Thyroid hypoplasia, Athyreosis]","[8426, 16841, 16842]",,,,, +GARD:15166,Active,Orphanet+OMIM,OMIM:225300,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 6,"[Ectrodactyly, autosomal recessive]","Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting ({2:Elliott and Evans, 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 ({183600}).",[225300],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15167,Active,Orphanet+OMIM,OMIM:225750,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 1,"[encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis, cree encephalitis, pseudotoxoplasmosis syndrome, Ags]","Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1; {147660}), and negative serologic investigations for common prenatal infections ({5:Ali et al., 2006}). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process ({9:Crow et al., 2006}).\n\nIn a review of AGS, {26:Stephenson (2008)} noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.\n\nCree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome ({251290}), which shows phenotypic overlap and may in some cases represent AGS ({10:Crow et al., 2000}; {8:Crow et al., 2003}). AGS is distinct from the similarly named Aicardi syndrome ({304050}), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities.\n\n<Subhead> Genetic Heterogeneity of Aicardi-Goutieres Syndrome\n\nSee also AGS2 ({610181}), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B; {610326}) on chromosome 13q14; AGS3 ({610329}), caused by mutation in the RNASEH2C gene ({610330}) on chromosome 11q13; AGS4 ({610333}), caused by mutation in the RNASEH2A gene ({606034}) on chromosome 19p13; AGS5 ({612952}), caused by mutation in the SAMHD1 gene ({606754}) on chromosome 20q11; AGS6 ({615010}), caused by mutation in the ADAR1 gene ({146920}) on chromosome 1q21; AGS7 ({615846}), caused by mutation in the IFIH1 gene ({606951}) on chromosome 2q24; AGS8 ({619486}), caused by mutation in the LSM11 gene ({617910}) on chromosome 5q33; and AGS9 ({619487}), caused by mutation in the RNU7-1 gene ({617876}) on chromosome 12p13.",[225750],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:15168,Active,Orphanet+OMIM,OMIM:227645,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group c","[fanconi pancytopenia, type 3, Facc]","Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[227645],[84],[Fanconi anemia],[6425],,,,, +GARD:15169,Active,Orphanet+OMIM,OMIM:227646,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group d2","[fanconi anemia, complementation group d, Fad2, fanconi pancytopenia, type 4]","Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[227646],[84],[Fanconi anemia],[6425],,,,, +GARD:15170,Active,Orphanet+OMIM,OMIM:227650,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group a",[Fanconi anemia],"Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {29:Deakyne and Mazin, 2011}).\n\n{116:Soulier et al. (2005)} noted that the FANCA, -C, -E, -F, -G, and -L proteins are part of a nuclear multiprotein core complex which triggers activating monoubiquitination of the FANCD2 protein during S phase of the growth cycle and after exposure to DNA crosslinking agents. The FA/BRCA pathway is involved in the repair of DNA damage.\n\nSome cases of Fanconi anemia have presented with a VACTERL ({192350}) or VACTERL-H ({276950}, {314390}) phenotype. In a group of 27 patients with Fanconi anemia group D1 ({605724}) due to biallelic mutations in the BRCA2 gene ({600185}), {2:Alter et al. (2007)} found that 5 patients had 3 or more VATER association anomalies and 1 was diagnosed with VACTERL-H. A VATER phenotype has also been reported in Fanconi anemia of complementation groups A, C ({227645}), E ({600901}), F ({603467}), and G ({602956}); VACTERL-H has also been described in patients with FANCB ({300515}) mutations ({73:McCauley et al., 2011}). {98:Savage et al. (2015)} added patients with FANCI ({609053}) to this list and stated that patients with FANCD2 ({227646}) and FANCL ({614083}) had also been reported to have features of VACTERL association.\n\n<Subhead> Genetic Heterogeneity of Fanconi Anemia\n\nOther Fanconi anemia complementation groups include FANCB ({300514}), caused by mutation in the FANCB ({300515}) on chromosome Xp22; FANCC ({227645}), caused by mutation in the FANCC ({613899}) on chromosome 9q22; FANCD1 ({605724}), caused by mutation in the BRCA2 ({600185}) on chromosome 13q12; FANCD2 ({227646}), caused by mutation in the FANCD2 gene ({613984}) on chromosome 3p25; FANCE ({600901}), caused by mutation in the FANCE gene ({613976}) on chromosome 6p21; FANCF ({603467}), caused by mutation in the FANCF gene ({613897}) on chromosome 11p15; FANCG ({614082}), caused by mutation in the XRCC9 gene (FANCG; {602956}) on chromosome 9p13; FANCI ({609053}), caused by mutation in the FANCI gene ({611360}) on chromosome 15q26; FANCJ ({609054}), caused by mutation in the BRIP1 gene ({605882}) on chromosome 17q22; FANCL ({614083}), caused by mutation in the PHF9 gene (FANCL; {608111}) on chromosome 2p16; FANCN ({610832}), caused by mutation in the PALB2 gene ({610355}) on chromosome 16p12; FANCO ({613390}), caused by mutation in the RAD51C ({602774}) on chromosome 17q22; FANCP ({613951}), caused by mutation in the SLX4 gene ({613278}) on chromosome 16p13; FANCQ ({615272}), caused by mutation in the ERCC4 gene ({133520}) on chromosome 16p13; FANCR ({617244}), caused by mutation in the RAD51 gene ({179617}) on chromosome 15q15; FANCS ({617883}), caused by mutation in the BRCA1 gene ({113705}) on chromosome 17q21; FANCT ({616435}), caused by mutation in the UBE2T gene ({610538}) on chromosome 1q31; FANCU ({617247}), caused by mutation in the XRCC2 gene ({600375}) on chromosome 7q36; FANCV ({617243}), caused by mutation in the MAD2L2 gene ({604094}) on chromosome 1p36; and FANCW ({617784}), caused by mutation in the RFWD3 gene ({614151}) on chromosome 16q23.\n\nThe previously designated FANCH complementation group ({60:Joenje et al., 1997}) was found by {59:Joenje et al. (2000)} to be the same as FANCA.\n\nA patient originally reported to have Fanconi anemia of complementation group M (FANCM) due to mutation in the FAAP250 gene ({609644}) by {75:Meetei et al. (2005)} was subsequently found by {115:Singh et al. (2009)} to have FANCA.",[227650],[84],[Fanconi anemia],[6425],,,,, +GARD:15171,Active,Orphanet+OMIM,OMIM:228020,Subtype of disorder,[Disease subtype],"Fascial dystrophy, congenital",,"{2:Jablonska et al. (1989)} described 4 patients with stony-hard induration of the skin and deeper tissues, most pronounced on the buttocks, thighs, and legs, and with limitation of joint mobility and contractures of the lower limbs. Two of the patients were sibs and one was the product of a consanguineous marriage, suggesting autosomal recessive inheritance. The disorder was noted in early infancy and was not progressive. Except for functional impairment of the lungs caused by an underdeveloped thorax that resulted from pressure of the thickened thoracic fascia, there was no involvement of viscera or muscles and no immunologic abnormalities. The most important laboratory finding was markedly thickened fascia. {2:Jablonska et al. (1989)} suggested that this was the human model of the 'tight-skin' mouse (Tsk) as described by {1:Green et al. (1976)}. Except for apparent autosomal recessive inheritance, the condition appears to be the same as that labeled stiff skin syndrome ({184900}).",[228020],[2833],[Stiff skin syndrome],[5025],,,,, +GARD:15172,Active,Orphanet+OMIM,OMIM:231050,Subtype of disorder,[Malformation syndrome subtype],Geleophysic dysplasia 1,,"Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues (summary by {4:Le Goff et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Geleophysic Dysplasia\n\nGeleophysic dysplasia-2 (GPHYSD2; {614185}) is an autosomal dominant form of the disorder caused by heterozygous mutation in the FBN1 gene ({134797}) on chromosome 15q21.1. Acromicric dysplasia ({102370}) and the autosomal dominant form of Weill-Marchesani syndrome ({608328}) are allelic to geleophysic dysplasia-2 and share overlapping skeletal and joint features.\n\nGeleophysic dysplasia-3 (GPHYSD3; {617809}) is caused by heterozygous mutation in the LTBP3 gene ({602090}) on chromosome 11q13.",[231050],[2623],[Geleophysic dysplasia],[2449],,,,, +GARD:15173,Active,Orphanet+OMIM,OMIM:232240,Subtype of disorder,[Clinical subtype],Glycogen storage disease ic,[Gsd ic],,[232240],[79259],[Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib],[2515],,,,, +GARD:15174,Active,Orphanet+OMIM,OMIM:233420,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 7","[46,xy gonadal dysgenesis, partial or complete, dhh-related, gonadal dysgenesis, xy, male-limited, 46,xy sex reversal, partial or complete, dhh-related]",,[233420],[242],"[46,XY complete gonadal dysgenesis]",[5068],,,,, +GARD:15175,Active,Orphanet+OMIM,OMIM:233690,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 4","[cyba deficiency, cgd due to deficiency of the alpha subunit of cytochrome b, cgd, autosomal recessive cytochrome b-negative, Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative]",Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.',[233690],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15176,Active,Orphanet+OMIM,OMIM:233700,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 1","[soluble oxidase component ii deficiency, Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i, neutrophil cytosol factor 1 deficiency, granulomatous disease, chronic, due to ncf1 deficiency, cgd, autosomal recessive cytochrome b-positive, type i, ncf1 deficiency, soc2 deficiency, p47-phox deficiency]",,[233700],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15177,Active,Orphanet+OMIM,OMIM:233710,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 2","[Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii, ncf2 deficiency, granulomatous disease, chronic, due to ncf2 deficiency, neutrophil cytosol factor 2 deficiency, p67-phox deficiency, cgd, autosomal recessive cytochrome b-positive, type ii]",,[233710],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15179,Active,Orphanet+OMIM,OMIM:235370,Subtype of disorder,[Disease subtype],Hemolytic anemia with thermal sensitivity of red cells,,"Heat-treated red cells undergo fragmentation and microspherocyte transformation in vitro. The same process occurs in vivo in severely burned persons. {2:Zarkowsky et al. (1975)} observed red cell morphology similar to that of the hemolytic anemia of burns in 3 children with congenital hemolytic anemia and demonstrated temperature-induced changes in the morphology and membrane composition of red cells. Two of the 3 patients were sibs. The parents of these 2 sibs showed normal red cell morphology and thermal sensitivity. Curiously, the sex of the patients was not stated. (See {1:Wiley and Gill (1976)} for another example of a presumed genetic, red cell membrane defect.)",[235370],[288],[Hereditary elliptocytosis],[6621],,,,, +GARD:1518,Active,Orphanet,ORPHA:140927,Disorder,[Disease],Benign familial neonatal-infantile seizures,"[BFNIS, Benign neonatal-infantile epilepsy]","Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.",[607745],,,,,Benign familial neonatal-infantile seizures,TRUE,FALSE,Active +GARD:15180,Active,Orphanet+OMIM,OMIM:235500,Subtype of disorder,[Disease subtype],"Hemosiderosis, pulmonary, with deficiency of gamma-a globulin",,Idiopathic pulmonary hemosiderosis has not been shown to be familial. That a generalized dysfunction of the macrophages system may be involved in some cases and that the defect may be genetically determined is suggested by the finding in some cases of deficiency of gamma-A globulin and of histologic alterations in the lymphoreticular organs compatible with an immune deficiency disorder.,[235500],[99931],[Idiopathic pulmonary hemosiderosis],[6763],,,,, +GARD:15181,Active,Orphanet+OMIM,OMIM:235510,Subtype of disorder,[Malformation syndrome subtype],Hennekam lymphangiectasia-lymphedema syndrome 1,"[Hennekam lymphangiectasia-lymphedema syndrome, lymphatic dysplasia, generalized]","Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by {2:Alders et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome\n\nSee also HKLLS2 ({616006}), caused by mutation in the FAT4 gene ({612411}) on chromosome 4q28, and HKLLS3 ({618154}), caused by mutation in the ADAMTS3 gene ({605011}) on chromosome 4q13.",[235510],[2136],[Hennekam syndrome],[3318],,,,, +GARD:15182,Active,Orphanet+OMIM,OMIM:236680,Subtype of disorder,[Malformation syndrome subtype],Hydrolethalus syndrome 1,,,[236680],[2189],[Hydrolethalus],[6683],,,,, +GARD:15183,Active,Orphanet+OMIM,OMIM:238710,Subtype of disorder,[Disease subtype],Hyperlysinemia due to defect in lysine transport into mitochondria,,{1:Oyanagi et al. (1986)} described 2 sibs with hyperlysinemia and mental retardation in whom the enzyme activities of lysine-alpha-ketoglutarate reductase ({238700}) and saccharopine dehydrogenase ({268700}) in liver were normal. Studies on lysine oxidation in cultured skin fibroblasts suggested that the hyperlysinemia in these patients was due to a defect of transport of lysine into mitochondria.,[238710],[2203],[Hyperlysinemia],[2828],,,,, +GARD:15184,Active,Orphanet+OMIM,OMIM:240500,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 2","[Antibody deficiency due to taci defect, hypogammaglobulinemia due to taci deficiency]",,[240500],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15185,Active,Orphanet+OMIM,OMIM:241600,Subtype of disorder,[Disease subtype],Immunodeficiency 43,"[hypoproteinemia, hypercatabolic, b2m deficiency, Beta-2-microglobulin deficiency]",,[241600],[34592],[Immunodeficiency by defective expression of MHC class I],[8427],,,,, +GARD:15186,Active,Orphanet+OMIM,OMIM:242050,Subtype of disorder,[Malformation syndrome subtype],"Hypouricemia, hypercalcinuria, and decreased bone density",,"{1:Sperling et al. (1974)} described this combination. Renal clearance of uric acid was greatly increased. Two brothers and a sister were affected, together with 2 grandchildren, products of a first-cousin marriage of obligatory heterozygotes. Hypouricemia occurs with xanthine oxidase deficiency ({278300}), Wilson disease ({277900}), and Fanconi renotubular syndrome ({134600}) and as a primary renal hypouricemia ({220150}).",[242050],[94088],[Hereditary renal hypouricemia],[9496],,,,, +GARD:15187,Active,Orphanet+OMIM,OMIM:242100,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 2","[Collodion baby, self-healing, ichthyosiform erythroderma, nonbullous congenital, 1, formerly, ichthyosiform erythroderma, brocq congenital, nonbullous form, formerly]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({10:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {8:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[242100],"[281122, 79394]","[Self-improving collodion baby, Congenital non-bullous ichthyosiform erythroderma]","[9736, 17303]",,,,, +GARD:15188,Active,Orphanet+OMIM,OMIM:242860,Subtype of disorder,[Malformation syndrome subtype],Immunodeficiency-centromeric instability-facial anomalies syndrome 1,"[Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16, centromeric instability, immunodeficiency syndrome, immunodeficiency syndrome, variable]","Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients that is explained by mutations in the DNMT3B gene in some, but not all, ICF patients ({11:Hagleitner et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome\n\nSee also ICF2 ({614069}), caused by mutation in the ZBTB24 gene ({614064}) on chromosome 6q21; ICF3 ({616910}), caused by mutation in the CDCA7 gene ({609937}) on chromosome 2q31; and ICF4 ({616911}), caused by mutation in the HELLS gene ({603946}) on chromosome 10q23.",[242860],[2268],[ICF syndrome],[2945],,,,, +GARD:15189,Active,Orphanet+OMIM,OMIM:243310,Subtype of disorder,[Malformation syndrome subtype],Baraitser-winter syndrome 1,"[pachygyria, mental retardation, epilepsy, and characteristic facies, mental retardation with epilepsy and characteristic facies, fryns-aftimos syndrome, cerebrofrontofacial syndrome, chromosome 7p22 deletion syndrome, cerebrooculofacial lymphatic syndrome, Iris coloboma with ptosis, hypertelorism, and mental retardation]","BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by {21:Verloes et al., 2015}). {5:Di Donato et al. (2014)} and {21:Verloes et al. (2015)} suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by {3:Cuvertino et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Baraitser-Winter Syndrome\n\nBaraitser-Winter syndrome-2 (BRWS2; {614583}) is caused by heterozygous mutation in the ACTG1 gene ({102560}) on chromosome 17q25.",[243310],[2995],[Baraitser-Winter cerebrofrontofacial syndrome],[5279],,,,, +GARD:1519,Active,Orphanet,ORPHA:1949,Disorder,[Disease],Benign familial neonatal epilepsy,"[BFNS, Benign familial neonatal convulsions, Benign familial neonatal seizures]",Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.,"[121201, 121200, 269720, 608217]",,,,,Convulsions benign familial neonatal dominant form,TRUE,FALSE,Active +GARD:15190,Active,Orphanet+OMIM,OMIM:243320,Subtype of disorder,[Disease subtype],"Intrinsic factor and r binder, combined congenital deficiency of",,"In the 14.5-year-old son of a first-cousin Algerian couple, {1:Zittoun et al. (1988)} identified deficiency of both intrinsic factor and R binder. Separate deficiencies are well described (see {261000} and {193090}, respectively). The boy presented with severe megaloblastic anemia, growth retardation, and neurologic dysfunction with typical features of subacute combined degeneration of the spinal cord. The anemia responded completely to cyanocobalamin and folic acid. Intrinsic factor was absent from gastric juice, but acid secretion and gastric mucosa were normal. R binders were absent from gastric juice as well as from serum, saliva, and polymorphonuclear leukocytes.",[243320],[332],[Congenital intrinsic factor deficiency],[3024],,,,, +GARD:15191,Active,Orphanet+OMIM,OMIM:245300,Subtype of disorder,[Disease subtype],"Kuru, susceptibility to",,"Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by {16:Wadsworth et al., 2008}).",[245300],[454745],[Kuru],[7617],,,,, +GARD:15192,Active,Orphanet+OMIM,OMIM:246300,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 3",,,[246300],[548],[Leprosy],[6886],,,,, +GARD:15193,Active,Orphanet+OMIM,OMIM:246560,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 3,,"Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM3 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting ({6:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 ({183600}).",[246560],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15194,Active,Orphanet+OMIM,OMIM:247650,Subtype of disorder,[Disease subtype],Lymphokine deficiency,,"Chronic mucocutaneous candidiasis can have many causes, e.g., (1) failure of lymphocytes to transform in response to antigen, either because of an intrinsic defect ({247450}) or because of an inhibiting serum factor ({247430}); (2) failure of production of lymphokine; or (3) unresponsiveness of monocytes to lymphokine ({252250}). Deficient production of lymphokine despite normal lymphoblastic transformation was demonstrated by {1:Lehner et al. (1972)}.",[247650],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15195,Active,Orphanet+OMIM,OMIM:249210,Subtype of disorder,[Malformation syndrome subtype],Megacystis-microcolon-intestinal hypoperistalsis syndrome 1,"[berdon syndrome, Megacystis-microcolon-intestinal hypoperistalsis syndrome]","Megacystis-microcolon-intestinal hypoperistalsis syndrome-1 (MMIHS1) is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. A distended bladder (megacystis) may be detected on prenatal ultrasound. Intestinal malrotation has also been observed (summary by {6:Halim et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome\n\nSee MMIHS2 ({619351}), caused by mutation in the MYH11 gene ({160745}) on chromosome 16p13; MMIHS3 ({619362}), caused by mutation in the LMOD1 gene ({602715}) on chromosome 1q32; MMIHS4 ({619365}), caused by mutation in the MYL9 gene ({609905}) on chromosome 20q11; and MMIHS5 ({619431}), caused by mutation in the ACTG2 gene ({102545}) on chromosome 2p13.",[249210],[2241],[Megacystis-microcolon-intestinal hypoperistalsis syndrome],[3442],,,,, +GARD:15196,Active,Orphanet+OMIM,OMIM:250790,Subtype of disorder,[Disease subtype],Methemoglobinemia and ambiguous genitalia,"[methemoglobinemia due to deficiency of cytochrome b5, formerly, Isolated 17,20-lyase deficiency, pure, methemoglobinemia type iv, formerly]","Methemoglobinemia and ambiguous genitalia is due to isolated 17,20-lyase deficiency, defined by apparently normal 17-alpha-hydroxylase activity but severely reduced 17,20-lyase activity of the CYP17A1 enzyme ({609300}), which results in sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve. The clinical phenotype is characterized by male undermasculinization, with absent or disturbed pubertal development in both 46,XY and 46,XX individuals. Mild to severe methemoglobinemia has been reported in these patients ({6:Idkowiak et al., 2012}).\n\nOther autosomal recessive methemoglobinemias include types I and II (see {250800}), caused by mutation in the CYB5R3 gene ({613213}). Isolated 17,20-lyase deficiency can also be caused by mutation in the CYP17A1 gene ({609300}), and mutation in the POR gene can manifest clinically as isolated 17,20-lyase deficiency (see {124015.0016}).",[250790],[621],[Hereditary methemoglobinemia],[2659],,,,, +GARD:15197,Active,Orphanet+OMIM,OMIM:250800,Subtype of disorder,[Disease subtype],Methemoglobinemia due to deficiency of methemoglobin reductase,"[Nadh-dependent methemoglobin reductase deficiency, methemoglobinemia, congenital, autosomal recessive, nadh-cytochrome b5 reductase deficiency]","Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia (review by {40:Percy and Lappin, 2008}).\n\nThere are 2 types of methemoglobin reductase deficiency. In type I, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type II, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes, and all body tissues. Type II methemoglobinemia is associated with mental deficiency and other neurologic symptoms. The neurologic symptoms may be related to the major role played by the cytochrome b5 system in the desaturation of fatty acids ({53:Vives-Corrons et al., 1978}; {28:Kaplan et al., 1979}).",[250800],[621],[Hereditary methemoglobinemia],[2659],,,,, +GARD:15198,Active,Orphanet+OMIM,OMIM:251200,Subtype of disorder,[Etiological subtype],"Microcephaly 1, primary, autosomal recessive","[premature chromosome condensation syndrome, pcc syndrome, Premature chromosome condensation with microcephaly and mental retardation]","Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (review by {29:Woods et al., 2005}).\n\nMost cases of primary microcephaly show an autosomal recessive mode of inheritance. Because MCPH directly affects neurogenesis, or neurogenic mitosis, rather than growth of the skull, some prefer the term 'micrencephaly' ({9:Hofman, 1984}).\n\nMCPH1 in particular is associated with premature chromosome condensation in cell studies ({4:Darvish et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Primary Microcephaly\n\nPrimary microcephaly is a genetically heterogeneous disorder. See MCPH2 ({604317}), caused by mutation in the WDR62 gene ({613583}) on chromosome 19q13; MCPH3 ({604804}), caused by mutation in the CDK5RAP2 gene ({608201}) on 9q33; MCPH4 ({604321}), caused by mutation in the CASC5 gene ({609173}) on 15q14; MCPH5 ({608716}), caused by mutation in the ASPM gene ({605481}) on 1q31; MCPH6 ({608393}), caused by mutation in the CENPJ gene ({609279}) on 13q12; MCPH7 ({612703}), caused by mutation in the STIL gene ({181590}) on 1p33; MCPH8 ({614673}), caused by mutation in the CEP135 gene ({611423}) on 4q12; MCPH9 ({614852}), caused by mutation in the CEP152 gene ({613529}) on 15q21; MCPH10 ({615095}), caused by mutation in the ZNF335 gene ({610827}) on 20q13; MCPH11 ({615414}), caused by mutation in the PHC1 gene ({602978}) on 12p13; MCPH12 ({616080}), caused by mutation in the CDK6 gene ({603368}) on 7q21; MCPH13 ({616051}), caused by mutation in the CENPE gene ({117143}) on 4q24; MCPH14 ({616402}), caused by mutation in the SASS6 gene ({609321}) on 1p21; MCPH15 ({616486}), caused by mutation in the MFSD2A gene ({614397}) on 1p34; MCPH16 ({616681}), caused by mutation in the ANKLE2 gene ({616062}) on 12q24; MCPH17 ({617090}), caused by mutation in the CIT gene ({605629}) on 12q24; MCPH18 ({617520}), caused by mutation in the WDFY3 gene ({617485}) on 4q21; and MCPH19 ({617800}), caused by mutation in the COPB2 gene ({606990}) on 3q23; MCPH20 ({617914}), caused by mutation in the KIF14 gene ({611279}) on 1q31; MCPH21 ({617983}), caused by mutation in the NCAPD2 gene ({615638}) on 12p13; MCPH22 ({617984}), caused by mutation in the NCAPD3 gene ({609276}) on 11q25; MCPH23 ({617985}), caused by mutation in the NCAPH gene ({602332}) on 2q11; MCPH24 ({618179}), caused by mutation in the NUP37 gene ({609264}) on 12q23; MCPH25 ({618351}), caused by mutation in the MAP11 gene ({618350}) on 7q22; MCPH26 ({619179}), caused by mutation in the LMNB1 gene ({150340}) on 5q23; MCPH27 ({619180}), caused by mutation in the LMNB2 gene ({150341}) on 19p13; and MCPH28 ({619453}), caused by mutation in the RRP7A gene ({619449}) on 22q13.",[251200],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15199,Active,Orphanet+OMIM,OMIM:251300,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 1,"[nephrosis-neuronal dysmigration syndrome, Microcephaly, hiatal hernia, and nephrotic syndrome, nephrosis-microcephaly syndrome, galloway syndrome, cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities, spinocerebellar ataxia, autosomal recessive 5, formerly]","Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by {18:Vodopiutz et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Galloway-Mowat Syndrome\n\nSee also GAMOS2 ({301006}), caused by mutation in the LAGE3 gene ({300060}) on chromosome Xq28; GAMOS3 ({617729}), caused by mutation in the OSGEP gene ({610107}) on chromosome 14q11; GAMOS4 ({617730}), caused by mutation in the TP53RK gene ({608679}) on chromosome 20q13; GAMOS5 ({617731}), caused by mutation in the TPRKB gene ({608680}) on chromosome 2p13; GAMOS6 ({618347}), caused by mutation in the WDR4 gene ({605924}) on chromosome 21q22; GAMOS7 ({618348}), caused by mutation in the NUP107 gene ({607617}) on chromosome 12q15; GAMOS8 ({618349}), caused by mutation in the NUP133 gene ({607613}) on chromosome 1q42; GAMOS9 ({619603}), caused by mutation in the GON7 gene ({617436}) on chromosome 14q32; and GAMOS10 ({619609}), caused by mutation in the YRDC gene ({612276}) on chromosome 1p34.",[251300],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:152,Legacy,GARD,,,,,,,,,,,,Samson Viljoen syndrome,TRUE,FALSE,Active +GARD:15200,Active,Orphanet+OMIM,OMIM:251505,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 4",[Microphthalmia with colobomatous cyst],"For a discussion of genetic heterogeneity of isolated microphthalmia with coloboma, see MCOPCB1 ({300345}).\n\nIsolated microphthalmia associated with colobomatous cyst results from a defect in the closure of the embryonic fissure at the 7- to 20-mm stage of development. Microphthalmia can be associated with either a small, clinically undetectable cyst, or a large, typically inferior cyst that deforms the eye and its surroundings. It is usually unilateral, although bilateral cases have been described. {2:Porges et al. (1992)} described 5 cases of microphthalmia with colobomatous cyst in 3 separate sibships of a highly inbred kindred. Orbital computed tomography was useful in defining the size of the globe and characterizing the cystic lesions. None of the 5 patients had light perception in either eye and there was no recordable electroretinogram or visual evoked potentials. Most of the globes were deeply set and undetectable clinically (clinical anophthalmos).\n\n{1:Hornby et al. (2000)} correlated visual function with clinical features and biometric findings in the eyes of children with coloboma. Of the 196 eyes with colobomatous malformations, 11 had microphthalmos with cyst, and 185 eyes had coloboma (associated with microcornea in 155 eyes and with normal corneal diameter in 30 eyes). The visual prognosis depended on the phenotype of the more normal eye. Microphthalmos with cyst had the worst prognosis (all worse than 20/400). Microcornea with microphthalmos had a worse prognosis than microcornea without microphthalmos. For microcornea with microphthalmos, 67% saw worse than 20/400. Of the children with microcornea without microphthalmos, 76% saw better than 20/400. Simple coloboma (without microcornea or microphthalmos) had the best visual prognosis: only 7% saw 20/400 or worse. A corneal diameter of less than 6 mm had a poor visual prognosis, whereas a corneal diameter of more than 10 mm had a good prognosis.",[251505],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15201,Active,Orphanet+OMIM,OMIM:252010,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 1","[nadh:q(1) oxidoreductase deficiency, nadh-coenzyme q reductase deficiency, Mitochondrial complex i deficiency, mitochondrial nadh dehydrogenase component of complex i, deficiency of]","Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders ({21:McFarland et al., 2004}; {16:Kirby et al., 2004}). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (see {256000}), Leber hereditary optic neuropathy ({535000}), and some forms of Parkinson disease (see {556500}) ({19:Loeffen et al., 2000}; {26:Pitkanen et al., 1996}; {28:Robinson, 1998}).\n\n<Subhead> Genetic Heterogeneity of Complex I Deficiency\n\nMitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible (summary by {14:Haack et al., 2012}). However, the majority of cases are caused by mutations in nuclear-encoded genes ({19:Loeffen et al., 2000}; {33:Triepels et al., 2001}).\n\nComplex I deficiency resulting from mutation in nuclear-encoded genes include MC1DN1, caused by mutation in the NDUFS4 gene ({602694}); MC1DN2 ({618222}), caused by mutation in the NDUFS8 gene ({602141}); MC1DN3 ({618224}), caused by mutation in the NDUFS7 gene ({601825}); MC1DN4 ({618225}), caused by mutation in the NDUFV1 gene ({161015}); MC1DN5 ({618226}), caused by mutation in the NDUFS1 gene ({157655}); MC1DN6 ({618228}), caused by mutation in the NDUFS2 gene ({602985}); MC1DN7 ({618229}), caused by mutation in the NDUFV2 gene ({600532}); MC1DN8 ({618230}), caused by mutation in the NDUFS3 gene ({603846}); MC1DN9 ({618232}), caused by mutation in the NDUFS6 gene ({603848}); MC1DN10 ({618233}), caused by mutation in the NDUFAF2 gene ({609653}); MC1DN11 ({618234}), caused by mutation in the NDUFAF1 gene ({606934}); MC1DN12 ({301020}), caused by mutation in the NDUFA1 gene ({300078}); MC1DN13 ({618235}), caused by mutation in the NDUFA2 gene ({602137}); MC1DN14 ({618236}), caused by mutation in the NDUFA11 gene ({612638}); MC1DN15 ({618237}), caused by mutation in the NDUFAF4 gene ({611776}); MC1DN16 ({618238}), caused by mutation in the NDUFAF5 gene ({612360}); MC1DN17 ({618239}), caused by mutation in the NDUFAF6 gene ({612392}); MC1DN18 ({618240}), caused by mutation in the NDUFAF3 gene ({612911}); MC1DN19 ({618241}), caused by mutation in the FOXRED1 gene ({613622}); MC1DN20 ({611126}), caused by mutation in the ACAD9 gene ({611103}); MC1DN21 ({618242}), caused by mutation in the NUBPL gene ({613621}); MC1DN22 ({618243}), caused by mutation in the NDUFA10 gene ({603835}); MC1DN23 ({618244}), caused by mutation in the NDUFA12 gene ({614530}); MC1DN24 ({618245}), caused by mutation in the NDUFB9 gene ({601445}); MC1DN25 ({618246}), caused by mutation in the NDUFB3 gene ({603839}); MC1DN26 ({618247}), caused by mutation in the NDUFA9 gene ({603834}); MC1DN27 ({618248}), caused by mutation in the MTFMT gene ({611766}); MC1DN28 ({618249}), caused by mutation in the NDUFA13 gene ({609435}); MC1DN29 ({618250}), caused by mutation in the TMEM126B gene ({615533}); MC1DN30 ({301021}), caused by mutation in the NDUFB11 gene ({300403}); MC1DN31 ({618251}), caused by mutation in the TIMMDC1 gene ({615534}); MC1DN32 ({618252}), caused by mutation in the NDUFB8 gene ({602140}); MC1DN33 ({618253}), caused by mutation in the NDUFA6 gene ({602138}); MC1DN34 ({618776}), caused by mutation in the NDUFAF8 gene ({618461}); MC1DN35 ({619003}), caused by mutation in the NDUFB10 gene ({603843}); MC1DN36 ({619170}), caused by mutation in the NDUFC2 gene ({603845}); MC1DN37 ({619272}), caused by mutation in the NDUFA8 gene ({603359}); and MC1DN38 ({619382}), caused by mutation in the DNAJC30 gene ({618202}).\n\nComplex I deficiency with mitochondrial inheritance has been associated with mutation in 6 mitochondrial-encoded components of complex I: MTND1 ({516000}), MTND2 ({516001}), MTND3 ({516002}), MTND4 ({516003}), MTND5 ({516005}), MTND6 ({516006}). Most of these patients have a phenotype of Leber hereditary optic neuropathy (LHON; {535000}) or Leigh syndrome. Features of complex I deficiency may also be caused by mutation in other mitochondrial genes, including MTTS2 ({590085}).",[252010],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:15202,Active,Orphanet+OMIM,OMIM:252011,Subtype of disorder,[Disease subtype],"Mitochondrial complex ii deficiency, nuclear type 1","[succinate dehydrogenase deficiency, Succinate coq reductase deficiency]","Mitochondrial complex II deficiency is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, and muscle with onset in infancy, whereas others have only isolated cardiac or muscle involvement. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by {6:Jain-Ghai et al., 2013}).\n\nComplex II, also known as succinate dehydrogenase, is part of the mitochondrial respiratory chain.\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex II Deficiency\n\nSee MC2DN2 ({619166}), caused by mutation in the SDHAF1 gene ({612848}) on chromosome 19q13; MC2DN3 ({619167}), caused by mutation in the SDHD gene ({602690}) on chromosome 11q23; and MC2DN4 ({619224}), caused by mutation in the SDHB gene ({185470}) on chromosome 1p36.\n\n{5:Fullerton et al. (2020)} reviewed the genetic basis of isolated mitochondrial complex II deficiency.",[252011],[3208],[Isolated succinate-CoQ reductase deficiency],[5053],,,,, +GARD:15203,Active,Orphanet+OMIM,OMIM:252250,Subtype of disorder,[Disease subtype],Monocyte chemotactic disorder,,"In a 9-year-old girl with chronic mucocutaneous candidiasis and cutaneous anergy, {1:Snyderman et al. (1973)} found that mononuclear leukocytes failed to migrate in vitro toward two chemotactic stimuli, leukocyte-derived chemotactic factor and C5A. After treatment with transfer factor, the patient's monocytes responded to both chemotactic factors. There is no information on the genetics of this presumably genetic disorder, but autosomal recessive inheritance is a reasonable presumption. Deficiency of leukocyte myeloperoxidase has been found with disseminated candidiasis ({254600}). In other cases chronic mucocutaneous candidiasis has been related to a deficiency of lymphokine ({247650}) or a defect in lymphocyte transformation that either is intrinsic ({247450}) or results from inhibition by a serum factor ({247430}).",[252250],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15204,Active,Orphanet+OMIM,OMIM:253280,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3","[Walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' (summary by {7:Godfrey et al., 2007}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[253280],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15205,Active,Orphanet+OMIM,OMIM:253800,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4","[walker-warburg syndrome or muscle-eye-brain disease, fktn-related, Fukuyama congenital muscular dystrophy]","MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({8:Godfrey et al., 2007}; {19:Muntoni and Voit, 2004}; {18:Muntoni et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[253800],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15206,Active,Orphanet+OMIM,OMIM:254300,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 10","[cms ib, formerly, myasthenic myopathy, formerly, congenital myasthenic syndrome type ib, formerly, Myasthenia, limb-girdle, familial, formerly]","Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors should be avoided (summary by {5:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[254300],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15207,Active,Orphanet+OMIM,OMIM:255160,Subtype of disorder,[Disease subtype],"Myopathy, myosin storage, autosomal recessive","[Myopathy, hyaline body, autosomal recessive]",,[255160],[53698],[Hyaline body myopathy],[7148],,,,, +GARD:15208,Active,Orphanet+OMIM,OMIM:255200,Subtype of disorder,[Disease subtype],"Myopathy, centronuclear, 2","[Myopathy, centronuclear, autosomal recessive, myotubular myopathy, autosomal recessive]",,[255200],[169186],[Autosomal recessive centronuclear myopathy],[12718],,,,, +GARD:15209,Active,Orphanet+OMIM,OMIM:256030,Subtype of disorder,[Disease subtype],Nemaline myopathy 2,,"Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by {3:Lehtokari et al., 2014}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800}).\n\nMutations in the NEB gene are the most common cause of nemaline myopathy ({4:Lehtokari et al., 2006}).",[256030],"[171436, 171433, 171430, 171439]","[Severe congenital nemaline myopathy, Typical nemaline myopathy, Intermediate nemaline myopathy, Childhood-onset nemaline myopathy]","[12821, 12822, 12823, 7171]",,,,, +GARD:1521,Active,Orphanet,ORPHA:565,Disorder,[Disease],Menkes disease,"[MD, Menkes kinky hair disease, Menkes syndrome]","A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair.",[309400],,,,,Menkes disease,TRUE,FALSE,Active +GARD:15210,Active,Orphanet+OMIM,OMIM:256370,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 4",,"Nephrotic syndrome, a malfunction of the glomerular filter, leads to proteinuria, edema, and, in steroid-resistant nephrotic syndrome, end-stage renal disease (ESRD). Renal histopathology in NPHS4 due to WT1 mutations most often shows diffuse mesangial sclerosis (DMS), but can also show focal segmental glomerulosclerosis (FSGS). Both of these terms refer to pathologic findings and may be associated with the same clinical phenotype, namely nephrotic syndrome (review by {7:Schumacher et al., 1998}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[256370],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15211,Active,Orphanet+OMIM,OMIM:256700,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 1",,"Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all cancer deaths in children. Some patients inherit a genetic predisposition to neuroblastoma due to germline mutations, whereas others develop sporadic disease that may result from either germline or somatic mutations. Neuroblastoma tumors are derived from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system ({52:Roberts et al., 1998}; {20:Eng, 2008}). Histopathologically, neuroblastoma can range in type from the most aggressive form, neuroblastoma, composed entirely of immature neural precursor cells, to ganglioneuroma, composed entirely of mature neural tissue. The most important prognostic factor for patients with neuroblastoma is the extent of the tumor at the time of diagnosis ({52:Roberts et al., 1998}).\n\nNeuroblastoma can also be part of cancer-prone syndromes, such as paragangliomas (see, e.g., PGL4; {115310}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Neuroblastoma\n\nSusceptibility to neuroblastoma is genetically heterogeneous and is conferred by mutation in the PHOX2B gene ({603851}) on chromosome 4p12 (NBLST2; {613013}) and by mutation in the ALK gene ({105590}) on chromosome 2p23 (NBLST3; {613014}).\n\nLoci implicated in the development of neuroblastoma include 6p (NBLST4; {613015}), 2q35 (NBLST5; {613016}), and 1q21 (NBLST6; {613017}).",[256700],[635],[Neuroblastoma],[7185],,,,, +GARD:15212,Active,Orphanet+OMIM,OMIM:257270,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1b","[Night blindness, congenital stationary, complete, autosomal recessive, csnb, complete, autosomal recessive]",,[257270],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15213,Active,Orphanet+OMIM,OMIM:257850,Subtype of disorder,[Malformation syndrome subtype],"Oculodentodigital dysplasia, autosomal recessive","[odod, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, Oddd, autosomal recessive]",,[257850],[2710],[Oculodentodigital dysplasia],[7239],,,,, +GARD:15214,Active,Orphanet+OMIM,OMIM:258150,Subtype of disorder,[Disease subtype],Spermatogenic failure 1,"[Oligosynaptic infertility, oligochiasmatic infertility]","Spermatogenic arrest during meiosis is a cause of infertility. The histologic picture of meiotic arrest is rather constant. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n but are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules, degenerate, and are easily distinguishable from normal spermatocytes by their partially condensed chromosomes. Although the cause of infertility in patients with meiotic arrest often remains unidentified, this histologic picture can be observed in patients with nonidiopathic infertility as well, such as in the case of microdeletions of the Y chromosome, chromosomal abnormalities, and cryptorchidism, suggesting that different causal factors can result in the same effect (summary by {5:Luetjens et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Spermatogenic Failure\n\nSee SPGF2 ({108420}), caused by mutation in the MSH4 gene ({602105}) on chromosome 1p31; SPGF3 ({606766}), caused by mutation in the SLC26A8 gene ({608480}) on chromosome 6p21; SPGF4 ({270960}), caused by mutation in the SYCP3 gene ({604759}) on chromosome 12q23; SPGF5 ({243060}), caused by mutation in the AURKC gene ({603495}) on chromosome 19q13; SPGF6 ({102530}), caused by mutation in the SPATA16 gene ({609856}) on chromosome 3q26; SPGF7 ({612997}), caused by mutation in the CATSPER gene ({606389}) on chromosome 11q13; SPGF8 ({613957}), caused by mutation in the NR5A1 gene ({184757}) on chromosome 9q33; SPGF9 ({613958}), caused by mutation in the DPY19L2 gene ({613893}) on chromosome 12q14; SPGF10 ({614822}), caused by mutation in the SEPT12 gene ({611562}) on chromosome 16p13; SPGF11 ({615081}), caused by mutation in the KLHL10 gene ({608778}) on chromosome 17p21; SPGF12 ({615413}), caused by mutation in the NANOS1 gene ({608226}) on chromosome 10q26; SPGF13 ({615841}), caused by mutation in the TAF4B gene ({601689}) on chromosome 18q11; SPGF14 ({615842}), caused by mutation in the ZMYND15 gene ({614312}) on chromosome 17p13; SPGF15 ({616950}), caused by mutation in the SYCE1 gene ({611486}) on chromosome 10q26; SPGF16 ({617187}), caused by mutation in the SUN5 gene ({613942}) on chromosome 20q11; SPGF17 ({617214}), caused by mutation in the PLCZ1 gene ({608075}) on chromosome 12p12; SPGF18 ({617576}), caused by mutation in the DNAH1 gene ({603332}) on chromosome 3p21; SPGF19 ({617592}), caused by mutation in the CFAP43 gene ({617558}) on chromosome 10q25; SPGF20 ({617593}), caused by mutation in the CFAP44 gene ({617559}) on chromosome 3q13; SPGF21 ({617644}), caused by mutation in the BRDT gene ({602144}) on chromosome 1p22; SPGF22 ({617706}), caused by mutation in the MEIOB gene ({617670}) on chromosome 16p13; SPGF23 ({617707}), caused by mutation in the TEX14 gene ({605792}) on chromosome 17q22; SPGF24 ({617959}), caused by mutation in the CFAP69 gene ({617949}) on chromosome 7q21; SPGF25 ({617960}), caused by mutation in the TEX15 gene ({605795}) on chromosome 8p12; SPGF26 ({617961}), caused by mutation in the TSGA10 gene ({607166}) on chromosome 2q11; SPGF27 ({617965}), caused by mutation in the AK7 gene ({615364}) on chromosome 14q32; SPGF28 ({618086}), caused by mutation in the FANCM gene ({609644}) on chromosome 14q21; SPGF29 ({618091}), caused by mutation in the SPINK2 gene ({605753}) on chromosome 4q12; SPGF30 ({618110}), caused by mutation in the TDRD9 gene ({617963}) on chromosome 14q32; SPGF31 ({618112}), caused by mutation in the PMFBP1 gene ({618085}) on chromosome 16q22; SPGF32 ({618115}), caused by mutation in the SOHLH1 gene ({610224}) on chromosome 9q34; SPGF33 ({618152}), caused by mutation in the WDR66 gene ({618146}) on chromosome 12q24; SPGF34 ({618153}), caused by mutation in the FSIP2 gene ({615796}) on chromosome 2q32; SPGF35, caused by mutation in the QRICH2 gene ({618304}) on chromosome 17q25; SPGF36 ({618420}), caused by mutation in the PPP2R3C gene ({615902}) on chromosome 14q13; SPGF37 ({618429}), caused by mutation in the TTC21A gene ({611430}) on chromosome 3p22; SPGF38 ({618433}), caused by mutation in the ARMC2 gene ({618424}) on chromosome 6q21; SPGF39 ({618643}), caused by mutation in the DNAH17 gene ({610063}) on chromosome 17q25; SPGF40 ({618664}), caused by mutation in the CFAP65 gene ({614270}) on chromosome 2q35; SPGF41 ({618670}), caused by mutation in the CFAP70 gene ({618661}) on chromosome 10q22; SPGF42 ({618745}), caused by mutation in the TTC29 gene ({618735}) on chromosome 4q31; SPGF43 ({618751}), caused by mutation in the SPEF2 gene ({610172}) on chromosome 5p13; SPGF44 ({619044}), caused by mutation in the CEP112 gene ({618980}) on chromosome 17q24; SPGF45 ({619094}), caused by mutation in the DNAH2 gene ({603333}) on chromosome 17p13; SPGF46 ({619095}), caused by mutation in the DNAH8 gene ({603337}) on chromosome 6p21; SPGF47 ({619102}), caused by mutation in the DZIP1 gene ({608671}) on chromosome 13q32; SPGF48 ({619108}), caused by mutation in the M1AP gene ({619098}) on chromosome 2p13; SPGF49 ({619144}), caused by mutation in the CFAP58 gene ({619129}) on chromosome 10q25; SPGF50 ({619145}), caused by mutation in the XRCC2 gene ({600375}) on chromosome 7q36; SPGF51 ({619177}), caused by mutation in the CFAP91 gene ({609910}) on chromosome 3q13; SPGF52 ({619202}), caused by mutation in the C14ORF39 gene ({617307}) on chromosome 14q23; SPGF53 ({619258}), caused by mutation in the ACTL9 gene ({619251}) on chromosome 19p13; SPGF54 ({619379}), caused by mutation in the CATIP gene ({619387}) on chromosome 2q35; SPGF55 ({619380}), caused by mutation in the SPAG17 gene ({616554}) on chromosome 1p12; SPGF56 ({619515}), caused by mutation in the DNAH10 gene ({605884}) on chromosome 12q24; SPGF57 ({619528}), caused by mutation in the PNLDC1 gene ({619529}) on chromosome 6q25; SPGF58 ({619585}), caused by mutation in the IFT74 gene ({608040}) on chromosome 9p21; SPGF59 ({619645}), caused by mutation in the TERB2 gene ({617131}) on chromosome 15q21; SPGF60 ({619646}), caused by mutation in the TERB1 gene ({617332}) on chromosome 16q22; SPGF61 ({619672}), caused by mutation in the STAG3 gene ({608489}) on chromosome 7q22; SPGF62 ({619673}), caused by mutation in the RNF212 gene ({612041}) on chromosome 4p16; SPGF63 ({619689}), caused by mutation in the RPL10L gene ({619655}) on chromosome 14q21; SPGF64 ({619696}), caused by mutation in the FBXO43 gene ({609110}) on chromosome 8q22; SPGF65 ({619712}), caused by mutation in the DNHD1 gene ({617277}) on chromosome 11p15; SPGF66 ({619799}), caused by mutation in the ZPBP gene ({608498}) on chromosome 7p12; SPGF67 ({619803}), caused by mutation in the CCDC62 gene ({613481}) on chromosome 12q24; SPGF68 ({619805}), caused by mutation in the C2CD6 gene ({613481}) on chromosome 2q33; SPGF69 ({619826}), caused by mutation in the GGN gene ({609966}) on chromosome 19q13; and SPGF70 ({619828}), caused by mutation in the PDHA2 gene ({179061}) on chromosome 4q22; SPGF71 ({619831}), caused by mutation in the ZSWIM7 gene ({614535}) on chromosome 17p12; SPGF72 ({619867}), caused by mutation in the WDR19 gene ({608151}) on chromosome 4p14; SPGF73 ({619878}), caused by mutation in the MOV10L1 gene ({605794}) on chromosome 22q13; SPGF74 ({619937}), caused by mutation in the MSH5 gene ({603382}) on chromosome 6p21; and SPGF75 ({619949}), caused by mutation in the SHOC1 gene ({618038}) on chromosome 9q31.\n\nX-linked forms of spermatogenic failure include SPGFX1 ({305700}), SPGFX2 ({309120}), SPGFX3 ({301059}), and SPGFX4 ({301077}).\n\nY-linked forms of spermatogenic failure include SPGFY1 ({400042}) and SPGFY2 ({415000}).\n\nSpermatogenic failure can also result from underlying endocrinologic disorders (see, e.g., hypogonadotropic hypogonadism, {146110}) or ciliary dyskinesias (see, e.g., CILD1, {244400}).",[258150],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15215,Active,Orphanet+OMIM,OMIM:258450,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1","[Progressive external ophthalmoplegia, autosomal recessive 1]","Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({9:Filosto et al., 2003}; {13:Luoma et al., 2004}).\n\n{7:Drachman (1975)} gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' ({6:Drachman, 1968}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA Deletions\n\nSee also PEOB2 ({616479}), caused by mutation in the RNASEH1 gene ({604123}) on chromosome 2p25; PEOB3 ({617069}), caused by mutation in the TK2 gene ({188250}) on chromosome 16q21; PEOB4 ({617070}), caused by mutation in the DGUOK gene ({601465}) on chromosome 2p13; and PEOB5 ({618098}), caused by mutation in the TOP3A gene ({601243}) on chromosome 17p11.",[258450],[254886],[Autosomal recessive progressive external ophthalmoplegia],[1191],,,,, +GARD:15216,Active,Orphanet+OMIM,OMIM:259100,Subtype of disorder,[Malformation syndrome subtype],"Hypertrophic osteoarthropathy, primary, autosomal recessive, 1","[pdp, autosomal recessive, touraine-solente-gole syndrome, Pho, autosomal recessive, pachydermoperiostosis, autosomal recessive]","Autosomal recessive primary hypertrophic osteoarthropathy-1 (PHOAR1) is a rare familial disorder characterized by digital clubbing, osteoarthropathy, and acroosteolysis, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease (summary by {26:Uppal et al., 2008}; {16:Radhakrishnan et al., 2020}).\n\nSecondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm ({26:Uppal et al., 2008}).\n\n{25:Touraine et al. (1935)} recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes.\n\n<Subhead> Genetic Heterogeneity\n\nPHOAR2 ({614441}) is caused by mutation in the SLCO2A1 gene ({601460}) on chromosome 3q22.\n\nFamilies with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD; {167100}).",[259100],[2796],[Pachydermoperiostosis],[7299],,,,, +GARD:15217,Active,Orphanet+OMIM,OMIM:259200,Subtype of disorder,[Malformation syndrome subtype],"Blount disease, adolescent","[Osteochondrosis deformans tibiae, adolescent, tibia vara, adolescent]","Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by {3:Sabharwal, 2009}).",[259200],[2768],[Blount disease],[916],,,,, +GARD:15218,Active,Orphanet+OMIM,OMIM:259750,Subtype of disorder,[Malformation syndrome subtype],"Osteoporosis, juvenile",[Idiopathic juvenile osteoporosis],"Idiopathic osteoporosis of childhood or adolescence without blue sclerae and other stigmata of osteogenesis imperfecta is occasionally observed and sometimes more than one sib is affected. This condition, which may be a distinct recessively inherited entity, was delineated by {4:Dent and Friedman (1965)} and was reviewed by {3:Dent (1969)}. The condition described by {2:Chowers et al. (1962)} may fall into this category, but the presence of amino aciduria and low serum uric acid makes a renal tubular defect of the Fanconi type likely. {7:Marder et al. (1982)} demonstrated low plasma calcitriol (1,25-dihydroxycholecalciferol) and normal serum calcifediol (25-hydroxycholecalciferol) in a 12-year-old girl with idiopathic juvenile osteoporosis. Deficiency of calcitonin has been suspected in cases of IJO, but exogenous calcitonin, in the experience of {5:Jackson et al. (1988)}, had no benefit. Although IJO heals spontaneously in conjunction with sexual maturation, exogenous estrogen and androgen treatment has not been beneficial. {8:Teotia et al. (1979)} described 4 affected children and tabulated the features of 27 other reported patients.",[259750],[85193],[Idiopathic juvenile osteoporosis],[6760],,,,, +GARD:15219,Active,Orphanet+OMIM,OMIM:260130,Subtype of disorder,[Disease subtype],"Pachyonychia congenita, autosomal recessive",,"For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.",[260130],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:1522,Active,Orphanet,ORPHA:1551,Disorder,[Disease],Familial benign copper deficiency,[Familial benign hypocupremia],"Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988.",[121270],,,,,"Copper deficiency, familial benign",TRUE,FALSE,Active +GARD:15220,Active,Orphanet+OMIM,OMIM:260370,Subtype of disorder,[Morphological anomaly subtype],Pancreatic agenesis 1,"[Pagen, pancreatic hypoplasia, congenital]",,[260370],[2805],[Partial pancreatic agenesis],[4203],,,,, +GARD:15221,Active,Orphanet+OMIM,OMIM:260400,Subtype of disorder,[Disease subtype],Shwachman-diamond syndrome 1,"[Shwachman-diamond syndrome, lipomatosis of pancreas, congenital, pancreatic insufficiency and bone marrow dysfunction, shwachman-bodian syndrome]","Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and varying degrees of marrow dysfunction with cytopenias. Myelodysplastic syndrome and acute myeloid leukemia occur in up to one third of patients (summary by {12:Dror and Freedman, 1999}).\n\nFor a review of Shwachman-Diamond syndrome, see {14:Dror and Freedman (2002)}.\n\n<Subhead> Genetic Heterogeneity of Shwachman-Diamond Syndrome\n\nShwachman-Diamond syndrome-2 (SDS2; {617941}) is caused by mutation in the EFL1 gene ({617538}) on chromosome 15q25.",[260400],[811],[Shwachman-Diamond syndrome],[4863],,,,, +GARD:15222,Active,Orphanet+OMIM,OMIM:262600,Subtype of disorder,[Disease subtype],"Pituitary hormone deficiency, combined, 2","[Panhypopituitarism, hanhart dwarfism, pituitary dwarfism iii, ateliotic dwarfism with hypogonadism]",,[262600],"[95494, 90695]","[Combined pituitary hormone deficiencies, genetic forms, Non-acquired panhypopituitarism]","[10602, 15020]",,,,, +GARD:15223,Active,Orphanet+OMIM,OMIM:263210,Subtype of disorder,[Disease subtype],Gillessen-kaesbach-nishimura syndrome,"[Polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia]","Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by {4:Tham et al., 2016}).",[263210],[79328],[ALG9-CDG],[9839],,,,, +GARD:15224,Active,Orphanet+OMIM,OMIM:263520,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 6 with or without polydactyly,"[short rib-polydactyly syndrome, type iia, majewski syndrome, polydactyly with neonatal chondrodystrophy, type ii, Short rib-polydactyly syndrome, type ii, srps, type ii]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {6:Huber and Cormier-Daire, 2012} and {11:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[263520],[93269],"[Short rib-polydactyly syndrome, Majewski type]",[4833],,,,, +GARD:15225,Active,Orphanet+OMIM,OMIM:264050,Subtype of disorder,[Malformation syndrome subtype],Prenatal bowing,,"Uncomplicated prenatal bowing of the long bones with dimpling has been described in sibs ({1:Conway, 1958}; {4:Mahloudji et al., 1974}). Prenatal bowing also occurs with osteogenesis imperfecta, hypophosphatasia, and camptomelic dysplasia. {2:Hall and Spranger (1980)} gave a review of congenital bowing of the long bones and identified 3 groups of cases among the 'bewildering variety of bone changes and associated clinical abnormalities which only rarely seem to fall into a recognizable pattern.' {3:Kapur and Van Vloten (1986)} observed congenital bowing in a child whose mother had bowing in infancy. Her adult height was 159.5 cm and x-rays showed minimal bowing of the femur. The child's bowing of the femurs was self-correcting over a period of 22 months.",[264050],[2292],[Congenital bowing of long bones],[953],,,,, +GARD:15226,Active,Orphanet+OMIM,OMIM:266510,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 3b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {5:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.",[266510],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15227,Active,Orphanet+OMIM,OMIM:266920,Subtype of disorder,[Disease subtype],Short-rib thoracic dysplasia 9 with or without polydactyly,"[renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia, conorenal syndrome, Mainzer-saldino syndrome]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {5:Huber and Cormier-Daire, 2012} and {13:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[266920],[140969],[Saldino-Mainzer syndrome],[8600],,,,, +GARD:15228,Active,Orphanet+OMIM,OMIM:267200,Subtype of disorder,[Disease subtype],Renal tubular acidosis iii,"[Rta, dislocation type, rta, bicarbonate-wasting type]","{3:Morris et al. (1969)} observed 2 unrelated infant girls with a distinct form of bicarbonate-wasting RTA, which they referred to as dislocation type. {1:Huth et al. (1960)} separated the group with onset in infancy and childhood from that with onset in later life. The former seems to be a genetic disorder transmitted as an autosomal recessive, although a predominance of males has been observed. {4:Wilson et al. (1967)} studied 2 families, each with a case of late-onset renal tubular acidosis, and found elevation of serum immunoglobulins in close relatives but no other cases of renal tubular acidosis. Renal tubular acidosis becomes apparent because of: periodic paralysis due to hypokalemia; rickets or osteomalacia; kidney stones; or nephrocalcinosis by abdominal x-ray.",[267200],[2785],[Osteopetrosis with renal tubular acidosis],[4154],,,,, +GARD:15229,Active,Orphanet+OMIM,OMIM:267300,Subtype of disorder,[Clinical subtype],"Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss","[rta with progressive nerve deafness, renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis, autosomal recessive, with progressive nerve deafness]",,[267300],[402041],[Autosomal recessive distal renal tubular acidosis],[4666],,,,, +GARD:1523,Legacy,GARD,,,,,,,,,,,,Cormier Rustin Munnich syndrome,TRUE,FALSE,Active +GARD:15230,Active,Orphanet+OMIM,OMIM:268025,Subtype of disorder,[Disease subtype],"Retinitis pigmentosa, late-adult onset","[Retinitis pigmentosa, 'senile']","Retinitis pigmentosa with onset of symptoms in the fifth or sixth decade is called senile retinitis pigmentosa. {1:Bonneau et al. (1992)} reported a family with 2 affected sisters whose parents were first cousins. Symptoms began in their fifties. The family originated from an area of France where consanguinity is not frequent. {2:Grondahl (1987)} described a Norwegian family in which 3 sibs had RP diagnosed at 58, 61, and 57 years of age; the parents came from the same Norwegian island and might have been consanguineous. In a survey of clinical aspects of RP in 93 families, {3:Kaplan et al. (1990)} found that autosomal recessive RP represented 21.5% of cases or 25.8% if isolated cases with consanguineous parents were considered. They found 2 main clinical profiles: one type was characterized by precocious onset (mean age, 7.5 years) and severe progression, whereas the second type occurred later (mean age, 17 years) and had a milder clinical course. RP with late onset (senile RP) may represent a third type of autosomal recessive retinitis pigmentosa.",[268025],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15231,Active,Orphanet+OMIM,OMIM:268060,Subtype of disorder,[Disease subtype],"Retinopathy, pericentral pigmentary, autosomal recessive","[Retinitis pigmentosa, pericentral]","{2:Traboulsi et al. (1988)} described a brother and sister, born to parents related as third cousins, who had pigmentary retinopathy in a pericentral distribution. The retinopathy was noted in infancy when the sibs were examined for strabismus. The optic discs, maculae, and retinal vessels were normal. Both sibs had moderate hyperopic astigmatism and esotropia. The fundus and visual acuity remained unchanged for 9 and 13 years in the brother and sister, respectively. Results of eye examinations in the father, mother, and older sister were normal. The stability of the retinal findings in visual acuity suggested a long-term favorable prognosis. {2:Traboulsi et al. (1988)} found 18 well-documented cases of pericentral pigmentary retinopathy in the literature. Although recessive inheritance had been suggested, it had never been substantiated in any of the reports. Disorders that have been labeled as central pigmentary retinopathy or inverse retinitis pigmentosa include cone-rod dystrophy ({120970}), Stargardt disease ({248200}), and Best disease ({153700}).\n\n{1:Sandberg et al. (2005)} studied 18 patients, aged 32 to 65 years, with pericentral retinitis pigmentosa with follow-up for 3 to 26 years. Estimated mean annual rates of decline of remaining ocular function were 1.2% for visual acuity, 1.9% for visual field area, and 2.9% for electroretinogram amplitude for 30 Hz flashes. {1:Sandberg et al. (2005)} noted that these rates were generally slower than those previously reported for patients with typical forms of retinitis pigmentosa. Their patient sample included 2 pairs of affected sibs with normal parents and otherwise isolated cases.\n\nSee {180210} for a possible autosomal dominant form of pericentral pigmentary retinopathy.",[268060],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15232,Active,Orphanet+OMIM,OMIM:268240,Subtype of disorder,[Disease subtype],Rheumatic fever-related antigen,"[Rheumatic fever, acute, susceptibility to, included]","Rheumatic fever (RF) is a delayed sequel to throat infection by Streptococcus pyogenes and affects susceptible untreated children. The disease manifests as polyarthritis, carditis, chorea, erythema marginatum, and/or subcutaneous nodules. Nearly 75% of affected children display arthritis and 30 to 45% develop carditis, which causes heart damage with pericardial, myocardial, and endocardial involvement followed by progressive and permanent valvular lesions leading to rheumatic heart disease (RHD) (summary by {2:Guilherme et al., 2007}).",[268240],[3099],[Rheumatic fever],[5699],,,,, +GARD:15233,Active,Orphanet+OMIM,OMIM:269500,Subtype of disorder,[Malformation syndrome subtype],Sclerosteosis 1,"[Sost, cortical hyperostosis with syndactyly]","Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by {8:Brunkow et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Sclerosteosis\n\nSclerosteosis-2 (SOST2; {614305}) is caused by mutation in the LRP4 gene ({604270}) on chromosome 11p11.",[269500],[3152],[Sclerosteosis],[4771],,,,, +GARD:15234,Active,Orphanet+OMIM,OMIM:269720,Subtype of disorder,[Disease subtype],"Seizures, benign familial neonatal, autosomal recessive","[epilepsy, benign familial neonatal, autosomal recessive, convulsions, benign familial neonatal, autosomal recessive, Bfns, autosomal recessive]","For a phenotypic description and a discussion of genetic heterogeneity of benign neonatal seizures, see BFNS1 ({121200}).",[269720],[1949],[Benign familial neonatal epilepsy],[1519],,,,, +GARD:15235,Active,Orphanet+OMIM,OMIM:270960,Subtype of disorder,[Disease subtype],Spermatogenic failure 4,"[azoospermia with maturation arrest, Azoospermia due to perturbations of meiosis, spermatogenesis arrest]","Azoospermia, a condition in which there are no sperm present in the ejaculate, has historically been divided into 2 broad categories, obstructive (e.g., {277180}) and nonobstructive. Among the genetically based, inherited nonobstructive causes are defects of spermatogenesis, which may interrupt the development of the sperm at various stages, either before (e.g., {415000}) or during meiosis. SPGF4 is a form of azoospermia due to perturbations of meiosis.\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).\n\n<Subhead> Recurrent Pregnancy Loss\n\nMiscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks' gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by {6:Rai and Regan, 2006}).\n\nPregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks' gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for recurrent pregnancy loss include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by {8:Warren and Silver, 2008}).\n\nFor a discussion of genetic heterogeneity of recurrent pregnancy loss, see RPRGL1 ({614389}).",[270960],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15236,Active,Orphanet+OMIM,OMIM:270970,Subtype of disorder,[Disease subtype],"Spherocytosis, type 3","[Spherocytosis, hereditary, 3]",,[270970],[822],[Hereditary spherocytosis],[6639],,,,, +GARD:15237,Active,Orphanet+OMIM,OMIM:271600,Subtype of disorder,[Disease subtype],"Spondyloepiphyseal dysplasia tarda, autosomal recessive",,,[271600],[93284],[Spondyloepiphyseal dysplasia tarda],[10624],,,,, +GARD:15238,Active,Orphanet+OMIM,OMIM:273395,Subtype of disorder,[Malformation syndrome subtype],Tetraamelia syndrome 1,"[Tetraamelia syndrome, autosomal recessive]","Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects ({5:Niemann et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of tetraamelia syndrome\n\nTetraamelia syndrome-2 (TETAMS2; {618021}) is caused by mutation in the RSPO2 gene ({610575}) on chromosome 8q23.",[273395],[3301],[Tetraamelia-multiple malformations syndrome],[386],,,,, +GARD:15239,Active,Orphanet+OMIM,OMIM:273750,Subtype of disorder,[Malformation syndrome subtype],Three m syndrome 1,"[le merrer syndrome, gloomy face syndrome, dolichospondylic dysplasia, 3m syndrome]","3M syndrome is an autosomal recessive disorder characterized by distinctive facial features, severe prenatal and postnatal growth retardation, and normal mental development. The main skeletal anomalies are long, slender tubular bones, reduced anteroposterior diameter of the vertebral bodies, and delayed bone age. Other skeletal manifestations include joint hypermobility, joint dislocation, winged scapulae, and pes planus (summary by {2:Badina et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of 3M Syndrome\n\nAlso see 3M syndrome-2 (3M2; {612921}), caused by mutation in the OBSL1 gene ({610991}) on chromosome 2q35, and 3M syndrome-3 (3M3; {614205}), caused by mutation in the CCDC8 gene ({614145}) on chromosome 19q13.",[273750],[2616],[3M syndrome],[5667],,,,, +GARD:1524,Legacy,GARD,,,,,,,,,,,,Corneal anesthesia deafness mental retardation,TRUE,FALSE,Retired +GARD:15240,Active,Orphanet+OMIM,OMIM:273800,Subtype of disorder,[Disease subtype],Glanzmann thrombasthenia 1,"[thrombasthenia of glanzmann and naegeli, platelet glycoprotein iib-iiia deficiency, glanzmann thrombasthenia, gp iib-iiia complex deficiency, Bleeding disorder, platelet-type, 2, platelet fibrinogen receptor deficiency, glycoprotein complex iib-iiia deficiency]","Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa (ITGB3; {173470}) platelet surface fibrinogen receptor complex resulting from mutations in the GPIIb gene ({50:Rosenberg et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Glanzmann Thrombasthenia\n\nSee Glanzmann thrombasthenia-2 (GT2; {619267}), caused by mutation the ITGB3 gene ({173470}) on chromosome 17q21.32.\n\nSee review by {6:Botero et al. (2020)}.",[273800],[849],[Glanzmann thrombasthenia],[2478],,,,, +GARD:15241,Active,Orphanet+OMIM,OMIM:276901,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iia",,"Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes ({14:Eudy et al., 1998}). See {276900} for clinical characterization of Usher syndrome types I, II, and III.\n\n<Subhead> Genetic Heterogeneity of Usher Syndrome Type II\n\nUsher syndrome type II is genetically heterogeneous. USH2C ({605472}) is caused by mutation in the ADGRV1 gene ({602851}) or by biallelic digenic mutation in the ADGRV1 and PDZD7 ({612971}) genes. USH2D ({611383}) is caused by mutation in the WHRN gene ({607928}).\n\nThe locus designation USH2B has been withdrawn; see HISTORY.",[276901],[231178],[Usher syndrome type 2],[5440],,,,, +GARD:15242,Active,Orphanet+OMIM,OMIM:276902,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iiia","[Usher syndrome, type iii]","Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life ({10:Karjalainen et al., 1985}; {13:Pakarinen et al., 1995}).\n\nFor a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 ({276900}).\n\n<Subhead> Genetic Heterogeneity of Usher syndrome Type III\n\nUsher syndrome type IIIB ({614504}) is caused by mutation in the HARS gene ({142810}) on chromosome 5q31.3.",[276902],[231183],[Usher syndrome type 3],[5442],,,,, +GARD:15243,Active,Orphanet+OMIM,OMIM:277180,Subtype of disorder,[Morphological anomaly subtype],"Vas deferens, congenital bilateral aplasia of",[Cavd],"Congenital bilateral absence of the vas deferens is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD, mutations are identified in the CFTR gene (summary by {16:Patat et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Congenital Bilateral Aplasia of Vas Deferens\n\nAlso see CBAVDX ({300985}), caused by mutation in the ADGRG2 gene ({300572}).",[277180],[48],[Congenital bilateral absence of vas deferens],[5461],,,,, +GARD:15244,Active,Orphanet+OMIM,OMIM:277470,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2a","[Pch2, volendam neurodegenerative disease, pontocerebellar hypoplasia with progressive cerebral atrophy]","Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}).\n\n<Subhead> Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2\n\nPCH2B ({612389}) is caused by mutation in the TSEN2 gene ({608753}) on chromosome 3p25, and PCH2C ({612390}) is caused by mutation in the TSEN34 gene ({608754}) on chromosome 19q13. PCH2D ({613811}) is caused by mutation in the SEPSECS gene ({613009}) on chromosome 4p15. PCH2E ({615851}) is caused by mutation in the VPS53 gene ({615850}) on chromosome 17p13. PCH2F ({617026}) is caused by mutation in the TSEN15 gene ({608756}) on chromosome 1q25. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing.",[277470],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:15245,Active,Orphanet+OMIM,OMIM:277580,Subtype of disorder,[Disease subtype],"Waardenburg syndrome, type 4a","[ws4, Waardenburg syndrome, type iva, waardenburg syndrome with hirschsprung disease, type 4a, waardenburg-shah syndrome, shah-waardenburg syndrome]","Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by {23:Read and Newton, 1997} and {21:Pingault et al., 2010}). WS type 4A is caused by mutation in the EDNRB gene ({131244}).\n\n<Subhead> Clinical Variability of Waardenburg Syndrome Types 1-4\n\nWaardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; {193500}) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3; {148820}) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by {23:Read and Newton, 1997} and {21:Pingault et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Waardenburg Syndrome Type 4\n\nWaardenburg syndrome type 4 is genetically heterogeneous. WS4B ({613265}) is caused by mutation in the EDN3 gene ({131242}) on chromosome 20q13, and WS4C ({613266}) is caused by mutation in the SOX10 gene ({602229}) on chromosome 22q13.",[277580],[897],[Waardenburg-Shah syndrome],[5524],,,,, +GARD:15246,Active,Orphanet+OMIM,OMIM:277600,Subtype of disorder,[Malformation syndrome subtype],Weill-marchesani syndrome 1,"[mesodermal dysmorphodystrophy, congenital, spherophakia-brachymorphia syndrome, Weill-marchesani syndrome, autosomal recessive]","Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by {1:Dagoneau et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Weill-Marchesani Syndrome\n\nA phenotypically similar, autosomal dominant form of WMS (WMS2; {608328}) is caused by mutation in the FBN1 gene ({134797}) on chromosome 15q21. Autosomal recessive WMS3 ({614819}) is caused by mutation in the LTBP2 gene ({602091}) on chromosome 14q24. Autosomal recessive WMS4 ({613195}) is caused by mutation in the ADAMTS17 gene ({607511}) on chromosome 15q24.",[277600],[3449],[Weill-Marchesani syndrome],[4936],,,,, +GARD:15247,Active,Orphanet+OMIM,OMIM:278150,Subtype of disorder,[Disease subtype],Hypotrichosis 8,"[Hypotrichosis, localized, autosomal recessive 3]","Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood ({7:Pasternack et al., 2008}). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by {9:Schaffer et al., 2006}).\n\nWoolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by {8:Petukhova et al., 2009}). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair ({5:Khan et al., 2011}).\n\nWoolly hair is also a feature of several syndromes, such as Naxos disease ({601214}) and cardiofaciocutaneous syndrome ({115150}) ({8:Petukhova et al., 2009}), or the palmoplantar keratoderma and cardiomyopathy syndrome ({601214}) ({3:Carvajal-Huerta, 1998}).\n\n<Subhead> Genetic Heterogeneity of Hypotrichosis and Woolly Hair\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 ({605389}).\n\nFor a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6; {607903}).\n\nAnother form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2; {604379}) is caused by mutation in the LIPH gene ({607365}) and is allelic to autosomal recessive localized hypotrichosis (LAH2). ARWH3 ({616760}) is caused by mutation in the KRT25 gene ({616646}) on chromosome 17q21.\n\nAn autosomal dominant form of woolly hair with hypotrichosis (HYPT13; {615896}) is caused by mutation in the KRT71 gene ({608245}) on chromosome 12q13. Another autosomal dominant form of woolly hair (ADWH; {194300}) with normal hair density is caused by mutation in the KRT74 gene ({608248}) on chromosome 12q13, and is allelic to an autosomal dominant form of hypotrichosis simplex of the scalp (HYPT3; {613981}) as well as an ectodermal dysplasia of the hair/nail type (ECTD7; {614929}).",[278150],"[170, 55654]","[Hypotrichosis simplex, Woolly hair]","[9170, 5597]",,,,, +GARD:15248,Active,Orphanet+OMIM,OMIM:615511,Subtype of disorder,[Disease subtype],Myopathy due to myoadenylate deaminase deficiency,"[myoadenylate deaminase deficiency, myopathy due to, ampd1 deficiency, Adenosine monophosphate deaminase-1 deficiency, myopathy due to]","Myoadenylate deaminase deficiency (MMDD) is an autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia. However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., {22:Verzijl et al., 1998}) that AMPD1 deficiency may be a harmless entity (summary by {2:Castro-Gago et al., 2011}).\n\n{7:Genetta et al. (2001)} stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent ({15:Sabina et al., 1989}). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to {7:Genetta et al. (2001)}.",[615511],[45],[Adenosine monophosphate deaminase deficiency],[547],,,,, +GARD:15249,Active,Orphanet+OMIM,OMIM:278850,Subtype of disorder,[Malformation syndrome subtype],"46,xx sex reversal 2",,,[278850],[393],"[46,XX testicular disorder of sex development]",[399],,,,, +GARD:1525,Active,Orphanet,ORPHA:3177,Disorder,[Malformation syndrome],Spinocerebellar degeneration-corneal dystrophy syndrome,[Der Kaloustian-Jarudi-Khoury syndrome],"A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.",[271310],,,,,Spinocerebellar degeneration and corneal dystrophy,TRUE,FALSE,Active +GARD:15250,Active,Orphanet+OMIM,OMIM:300001,Subtype of disorder,[Disease subtype],"Ichthyosis, x-linked, without steroid sulfatase deficiency",,,[300001],[461],[Recessive X-linked ichthyosis],[7904],,,,, +GARD:15251,Active,Orphanet+OMIM,OMIM:300071,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 2a","[night blindness, congenital stationary, type 2, Csnb, incomplete, x-linked]",,[300071],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15253,Active,Orphanet+OMIM,OMIM:300147,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, x-linked 1",,"For a general discussion of hereditary prostate cancer, see {176807}.",[300147],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15254,Active,Orphanet+OMIM,OMIM:300260,Subtype of disorder,[Malformation syndrome subtype],"Intellectual developmental disorder, x-linked, syndromic, lubs type","[mental retardation, x-linked, with recurrent respiratory infections, Lubs x-linked mental retardation syndrome, mecp2 duplication syndrome]","X-linked Lubs-type syndromic intellectual developmental disorder (MRXSL) is a neurodevelopmental disorder characterized by severely to profoundly impaired intellectual development, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections. Only males are affected, although female carriers may have some mild neuropsychiatric features, such as anxiety. Submicroscopic Xq28 duplications encompassing MECP2 are considered nonrecurrent events, because the breakpoint locations and rearrangement sizes vary among affected individuals (summary by {11:Ramocki et al., 2010}).",[300260],[1762],[Proximal Xq28 duplication syndrome],[9781],,,,, +GARD:15255,Active,Orphanet,ORPHA:172,Disorder,[Disease],Progressive familial intrahepatic cholestasis,[PFIC],Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.,"[615878, 601847, 602347, 211600]",,,,,,,, +GARD:15256,Active,Orphanet+OMIM,OMIM:300388,Subtype of disorder,[Clinical subtype],"Polymicrogyria, bilateral perisylvian, x-linked",,"Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding ({10:Kuzniecky et al., 1993}).\n\nPMG may be a feature of other conditions as well (see, e.g., {300643}).",[300388],[98889],[Bilateral perisylvian polymicrogyria],[6011],,,,, +GARD:15257,Active,Orphanet+OMIM,OMIM:300514,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group b","[Facb, fanconi pancytopenia, type 2]","Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nPatients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H (see {314390}), for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia ({9:McCauley et al., 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[300514],[84],[Fanconi anemia],[6425],,,,, +GARD:15258,Active,Orphanet+OMIM,OMIM:300580,Subtype of disorder,[Disease subtype],"Myopathy, congenital, with fiber-type disproportion, x-linked",,"For a general phenotypic description of congenital fiber-type disproportion, see CFTD ({255310}).",[300580],[2020],[Congenital fiber-type disproportion myopathy],[6161],,,,, +GARD:15259,Active,Orphanet+OMIM,OMIM:300590,Subtype of disorder,[Malformation syndrome subtype],Cornelia de lange syndrome 2,"[Cornelia de lange syndrome, x-linked, cdls, x-linked]","Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene ({608667}) on chromosome 5p13 (CDLS1; {122470}) (summary by {3:Musio et al., 2006}, {1:Hoppman-Chaney et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.",[300590],[199],[Cornelia de Lange syndrome],[10109],,,,, +GARD:1526,Legacy,GARD,,,,,,,,,,,,Corneal crystals myopathy neuropathy,TRUE,FALSE,Active +GARD:15260,Active,Orphanet+OMIM,OMIM:300704,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, x-linked 2",,"For a general discussion of hereditary prostate cancer, see {176807}.",[300704],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15261,Active,Orphanet+OMIM,OMIM:300717,Subtype of disorder,[Disease subtype],"Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset",,"Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B; {300718}) (summary by {3:Liewluck et al., 2007} and {6:Shalaby et al., 2009}).",[300717],[97239],[Reducing body myopathy],[12162],,,,, +GARD:15262,Active,Orphanet+OMIM,OMIM:300718,Subtype of disorder,[Disease subtype],"Reducing body myopathy, x-linked 1b, with late childhood or adult onset",,"Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death (RBMX1A; {300717}), and a less severe form has onset in late childhood or adulthood (RBMX1B) (summary by {3:Liewluck et al., 2007} and {7:Shalaby et al., 2009}).",[300718],[97239],[Reducing body myopathy],[12162],,,,, +GARD:15263,Active,Orphanet+OMIM,OMIM:300770,Subtype of disorder,[Disease subtype],"Surfactant metabolism dysfunction, pulmonary, 4","[csf2ra deficiency, Pulmonary alveolar proteinosis, congenital, 4, pap due to csf2ra deficiency]","Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB ({138960}) expression. Acquired PAP ({610910}), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 ({138960}) ({1:Martinez-Moczygemba et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 ({265120}).",[300770],[264675],[Hereditary pulmonary alveolar proteinosis],[4582],,,,, +GARD:15264,Active,Orphanet+OMIM,OMIM:300799,Subtype of disorder,[Malformation syndrome subtype],"Intellectual developmental disorder, x-linked, syndromic, raymond type","[Mental retardation, x-linked, syndromic, raymond type]","Raymond-type X-linked syndromic intellectual developmental disorder (MRXSR) is characterized by mildly to severely impaired intellectual development with speech and language difficulties associated with variable additional features, including marfanoid habitus, epilepsy, facial dysmorphism, hypotonia, and behavioral problems (summary by {1:Baker et al., 2015} and {4:Schirwani et al., 2018}).",[300799],[776],[Lujan-Fryns syndrome],[3307],,,,, +GARD:15265,Active,Orphanet+OMIM,OMIM:300804,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 10,,"Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis ({2:Coene et al., 2009}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[300804],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:15266,Active,Orphanet+OMIM,OMIM:300815,Subtype of disorder,[Malformation syndrome subtype],Chromosome xq28 duplication syndrome,,,[300815],[1762],[Proximal Xq28 duplication syndrome],[9781],,,,, +GARD:15267,Active,Orphanet+OMIM,OMIM:300833,Subtype of disorder,[Malformation syndrome subtype],"46,xx sex reversal 3",,,[300833],[393],"[46,XX testicular disorder of sex development]",[399],,,,, +GARD:15268,Active,Orphanet+OMIM,OMIM:300834,Subtype of disorder,[Disease subtype],"Macular degeneration, x-linked atrophic",,,[300834],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15269,Active,Orphanet+OMIM,OMIM:300857,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia,,,[300857],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15270,Active,Orphanet+OMIM,OMIM:300867,Subtype of disorder,[Malformation syndrome subtype],Kabuki syndrome 2,,"Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy ({8:Niikawa et al., 1981}).\n\nFor a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 ({147920}).",[300867],[2322],[Kabuki syndrome],[6810],,,,, +GARD:15271,Active,Orphanet+OMIM,OMIM:300882,Subtype of disorder,[Malformation syndrome subtype],Cornelia de lange syndrome 5,,"Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene ({608667}) on chromosome 5p13 (CDLS1; {122470}), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene ({300040}) (CDLS2; {300590}) (summary by {7:Musio et al., 2006}, {4:Hoppman-Chaney et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.",[300882],[199],[Cornelia de Lange syndrome],[10109],,,,, +GARD:15272,Active,Orphanet+OMIM,OMIM:300887,Subtype of disorder,[Malformation syndrome subtype],Linear skin defects with multiple congenital anomalies 2,"[Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies]",,[300887],[2556],[Microphthalmia with linear skin defects syndrome],[3659],,,,, +GARD:15273,Active,Orphanet+OMIM,OMIM:300918,Subtype of disorder,[Disease subtype],"Olmsted syndrome, x-linked","[Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked]","X-linked Olmsted syndrome (OLMSX) is a rare keratinization disorder characterized by the combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis, and constriction of the digits (summary by {4:Yaghoobi et al., 2007}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Olmsted disease, see OLMS1 ({614594}).",[300918],[659],[Mutilating palmoplantar keratoderma with periorificial keratotic plaques],[4075],,,,, +GARD:15274,Active,Orphanet+OMIM,OMIM:300943,Subtype of disorder,[Disease subtype],"Pituitary adenoma 2, growth hormone-secreting","[Acromegaly due to pituitary adenoma 2, acromegaly, x-linked]",,[300943],[963],[Acromegaly],[5725],,,,, +GARD:15275,Active,Orphanet+OMIM,OMIM:300946,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 14 with mandibulofacial dysostosis,,,[300946],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15276,Active,Orphanet+OMIM,OMIM:300952,Subtype of disorder,[Malformation syndrome subtype],Linear skin defects with multiple congenital anomalies 3,[Linear skin defects with cardiomyopathy and other congenital anomalies],,[300952],[2556],[Microphthalmia with linear skin defects syndrome],[3659],,,,, +GARD:15277,Active,Orphanet+OMIM,OMIM:300953,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 5, nonphotosensitive",,"Trichothiodystrophy-5 (TTD5) is an X-linked disorder characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities (summary by {2:Mendelsohn et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 ({601675}).",[300953],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:15278,Active,Orphanet+OMIM,OMIM:300963,Subtype of disorder,[Malformation syndrome subtype],Ritscher-schinzel syndrome 2,,"Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by {1:Kolanczyk et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 ({220210}).",[300963],[7],[3C syndrome],[5666],,,,, +GARD:15279,Active,Orphanet+OMIM,OMIM:300985,Subtype of disorder,[Morphological anomaly subtype],"Vas deferens, congenital bilateral aplasia of, x-linked",,"Congenital bilateral absence of the vas deferens (CBAVD) is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD (see {277180}), mutations are identified in the CFTR gene ({602421}). The forms caused by mutations in the CFTR and ADGRG2 genes are clinically indistinguishable (summary by {1:Patat et al., 2016}).",[300985],[48],[Congenital bilateral absence of vas deferens],[5461],,,,, +GARD:1528,Legacy,GARD,,,,,,,,,,,,Corneal dystrophy ichthyosis microcephaly mental retardation,TRUE,FALSE,Retired +GARD:15280,Active,Orphanet+OMIM,OMIM:300991,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 36, x-linked","[Ciliary dyskinesia, primary, 36, with or without situs inversus]","CILD36 is an X-linked recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects due to ciliary dysfunction at the embryonic node (summary by {2:Paff et al., 2017}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[300991],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15281,Active,Orphanet+OMIM,OMIM:301006,Subtype of disorder,[Malformation syndrome subtype],"Galloway-mowat syndrome 2, x-linked",,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by {1:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[301006],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:15282,Active,Orphanet+OMIM,OMIM:301008,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, x-linked, syndromic, houge type","[Mental retardation, x-linked, syndromic, houge type]","The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by {2:Damiano et al., 2017}).",[301008],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:15283,Active,Orphanet+OMIM,OMIM:301020,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 12",,,[301020],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:15284,Active,Orphanet+OMIM,OMIM:301021,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 30",,,[301021],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:15285,Active,Orphanet+OMIM,OMIM:301028,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 20",,"Nephrotic syndrome type 20 (NPHS20) is an X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first decade of life in affected males. The course of the disorder is highly variable: some patients progress to end-stage kidney disease and may die in childhood without renal transplantation, whereas others have milder symptoms and maintain normal renal function. Carrier females may have a milder disorder with proteinuria or may be unaffected. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) and effacement of podocyte foot processes (summary by {1:Dorval et al., 2019} and {2:Kampf et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[301028],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15286,Active,Orphanet+OMIM,OMIM:301058,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 90,,"Developmental and epileptic encephalopathy-90 (DEE90) is an X-linked neurologic disorder characterized by onset of refractory seizures in the first days or months of life. Although most patients have focal seizures associated with oromotor automatisms and apnea, various seizure types may occur, including epileptic spasms, generalized tonic-clonic, and absence. EEG shows multifocal discharges; hypsarrhythmia, intermittent burst suppression, and slow spike-wave background resembling Lennox-Gastaut syndrome may also be observed. Affected individuals have global developmental delay with variable severity, but it is usually profound or severe. Some are unable to walk or speak, whereas others may achieve some milestones and show autistic features (summary by {1:Fry et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[301058],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:15287,Active,Orphanet+OMIM,OMIM:302045,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 3b","[Cardiomyopathy, dilated, x-linked]",,[302045],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15289,Active,Orphanet+OMIM,OMIM:304800,Subtype of disorder,[Disease subtype],"Diabetes insipidus, nephrogenic, 1, x-linked","[Ndi, diabetes insipidus, nephrogenic, type i]","Nephrogenic diabetes insipidus (NDI) is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; {192340}). Approximately 90% of patients are males with the X-linked recessive form (type I; NDI1), which is caused by a defect in the vasopressin V2 receptor in renal collecting duct cells. The remaining 10% of patients have autosomal NDI (type II; NDI2, {125800}), which is caused by mutations in the gene encoding the aquaporin-2 water channel (AQP2; {107777}) on chromosome 12q13 ({24:Morello and Bichet, 2001}).\n\nNeurogenic, or central, diabetes insipidus ({125700}) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.",[304800],[223],[Nephrogenic diabetes insipidus],[7178],,,,, +GARD:1529,Active,Orphanet,ORPHA:1490,Disorder,[Malformation syndrome],Corneal dystrophy-perceptive deafness syndrome,"[CDPD, Corneal dystrophy with progressive deafness, Corneal dystrophy with progressive hearing loss, Corneal dystrophy-perceptive hearing loss syndrome, Harboyan syndrome]","Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss.",[217400],,,,,Corneal dystrophy and perceptive deafness,TRUE,FALSE,Active +GARD:15290,Active,Orphanet+OMIM,OMIM:304950,Subtype of disorder,[Disease subtype],"Dyggve-melchior-clausen syndrome, x-linked",,"{2:Yunis et al. (1980)} described a Colombian family in which 10 males in 3 generations, in a typical X-linked recessive pedigree pattern, had the Dyggve-Melchior-Clausen syndrome. The affected males varied in age from 13 to 15 years. Normal intelligence was another difference from the autosomal recessive form. The authors cited some reported families that are equally consistent with X-linked or autosomal recessive inheritance ({223800}). {1:Spranger (1981)} suggested that the disorder described by {2:Yunis et al. (1980)} was in fact X-linked SED tarda ({313400}).",[304950],[239],[Dyggve-Melchior-Clausen disease],[6295],,,,, +GARD:15291,Active,Orphanet+OMIM,OMIM:305350,Subtype of disorder,[Disease subtype],"Epidermodysplasia verruciformis, x-linked",,"{1:Androphy et al. (1985)} described a kindred in which a 56-year-old man had EDV, none of his 5 sons or 5 daughters had EDV, and 4 of his grandsons (through 2 daughters) had EDV. All were infected with human papillomavirus 3 (HPV 3) and with HPV 8. The proband, who had onset of warts at age 5 years with no regression over the next 50 years and with extension to cover about 10% of his skin surface, had squamous carcinoma arising on sun-exposed areas of the face, ears, neck, back, arms, and hands over the previous 25 years. Other pedigrees have suggested autosomal inheritance although whether dominant as suggested by some families or recessive as suggested by parental consanguinity (see {226400}) is not certain.",[305350],[302],[Epidermodysplasia verruciformis],[6357],,,,, +GARD:15292,Active,Orphanet+OMIM,OMIM:305390,Subtype of disorder,[Disease subtype],"Exudative vitreoretinopathy 2, x-linked","[Exudative vitreoretinopathy, familial, 2, evrx, fevr, x-linked]","Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {9:Poulter et al., 2010}).\n\nFor a discussion of genetic heterogeneity of FEVR, see EVR1 ({133780}).",[305390],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:15293,Active,Orphanet+OMIM,OMIM:305620,Subtype of disorder,[Disease subtype],Frontometaphyseal dysplasia 1,[Fmd],"Frontometaphyseal dysplasia-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; {311300}), otopalatodigital syndrome-2 (OPD2; {304120}), and Melnick-Needles syndrome (MNS; {309350}), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD1 is characterized by a generalized skeletal dysplasia, deafness, and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by {17:Robertson, 2005}). {22:Verloes et al. (2000)} suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'\n\n<Subhead> Genetic Heterogeneity of Frontometaphyseal Dysplasia\n\nFrontometaphyseal dysplasia-2 (FMD2; {617137}) is caused by mutation in the MAP3K7 gene ({602614}) on chromosome 6q15.",[305620],[1826],[Frontometaphyseal dysplasia],[826],,,,, +GARD:15294,Active,Orphanet+OMIM,OMIM:306400,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, x-linked","[Cgd, cytochrome b-negative granulomatous disease, chronic, x-linked, chronic granulomatous disease, x-linked]","X-linked chronic granulomatous disease (CGDX) is a primary immunodeficiency characterized by onset of symptoms in the first months or years of life. Patients present with recurrent infections, lymphadenopathy, inflammatory bowel disease, granulomatous colitis, fever, skin infections, osteomyelitis, and/or abscesses. Infectious organisms usually include Staphylococcus aureus, Burkholderia cepacia, Serrata, Salmonella, mycobacteria, and fungi. The disorder results from impaired function of the phagocytic NADPH oxidase complex, which generates the microbiocidal respiratory burst. Laboratory studies using the DHR assay show impaired phagocytic production of reactive oxygen species in response to PMA stimulation (reviews by {32:Dinauer et al., 2001} and {57:Johnston, 2001}; summary by {102:Song et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Chronic Granulomatous Disease\n\nChronic granulomatous disease can be caused by mutation in several genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also CGD1 ({233700}), caused by mutation in the NCF1 gene ({608512}) on chromosome 7q11; CGD2 ({233710}), caused by mutation in the NCF2 gene ({608515}) on chromosome 1q25; CGD3 ({613960}), caused by mutation in the NCF4 gene ({601488}) on chromosome 22q13; CGD4 ({233690}), caused by mutation in the CYBA gene ({608508}) on chromosome 16q24; and CGD5 ({618935}) caused by mutation in the CYBC1 gene ({618334}) on chromosome 17q25.\n\nA similar syndrome, termed neutrophil immunodeficiency syndrome ({608203}), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 ({602049}).\n\n{90:Roos et al. (2021)} provided a review of autosomal forms of chronic granulomatous disease.",[306400],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15295,Active,Orphanet+OMIM,OMIM:306950,Subtype of disorder,[Morphological anomaly subtype],"Hernia, anterior diaphragmatic",,"{2:Lilly et al. (1974)} described a family in which 2 brothers and their maternal uncle had congenital, anterior diaphragmatic hernia. Two of the 3 died in infancy of complications. {1:Crane (1979)} favored multifactorial inheritance with high male:female sex ratio. Twelve multiplex families were analyzed.",[306950],[2140],[Congenital diaphragmatic hernia],[1481],,,,, +GARD:15296,Active,Orphanet+OMIM,OMIM:307830,Subtype of disorder,[Malformation syndrome subtype],"Hypouricemia, familial renal, due to tubular hypersecretion",,"Probenecid and pyrazinamide are the drugs most widely used in the evaluation of the renal handling of urate. By application of these drugs, three types of tubular defects responsible for renal hypouricemia have been identified ({1:De Vries and Sperling, 1979}). They include presecretory, postsecretory, and combined urate reabsorption in the kidney (see {220150}). A fourth type of renal hypouricemia was described by {5:Shichiri et al. (1982)}, {2:Dumont and Decaux (1983)}, and {4:Sanz et al. (1983)}. In this type of hypouricemia, responses of renal urate clearance to probenecid or pyrazinamide are normal, sometimes even exaggerated, and the hypouricemia appears to be due to tubular hypersecretion. {3:Nakajima et al. (1987)} described the familial occurrence of this form. Two brothers had hypouricemia and their mother had serum urate levels in the low normal range. Data were not provided on the father. It is noteworthy that the proband was a 36-year-old carpenter with eunuchoidism and a 48,XXYY karyotype. His brother and mother had normal karyotypes.",[307830],[94088],[Hereditary renal hypouricemia],[9496],,,,, +GARD:15297,Active,Orphanet+OMIM,OMIM:308205,Subtype of disorder,[Disease subtype],"Ifap syndrome 1, with or without bresheck syndrome","[Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia]","The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by {13:Naiki et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of IFAP Syndrome\n\nIFAP syndrome-2 (IFAP2; {619016}) is caused by heterozygous mutation in the SREBF1 gene ({184756}) on chromosome 17p11.",[308205],[2273],[Ichthyosis follicularis-alopecia-photophobia syndrome],[2952],,,,, +GARD:15298,Active,Orphanet+OMIM,OMIM:308350,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 1,"[xmesid, ohtahara syndrome, x-linked, west syndrome, x-linked, infantile epileptic-dyskinetic encephalopathy, infantile spasm syndrome, x-linked 1, Epileptic encephalopathy, early infantile, 1]","Developmental and epileptic encephalopathy-1 (DEE1) is a severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Approximately 75% of DEE1 patients progress to tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG ({15:Kato et al., 2007}).\n\nDEE1 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; {300215}) to Proud syndrome ({300004}) to infantile spasms without brain malformations (DEE) to syndromic ({309510}) and nonsyndromic ({300419}) mental retardation. Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected ({14:Kato et al., 2004}; {25:Wallerstein et al., 2008}).\n\n<Subhead> Reviews\n\n{5:Deprez et al. (2009)} reviewed the genetics of epilepsy syndromes starting in the first year of life and included a diagnostic algorithm.\n\n<Subhead> Genetic Heterogeneity of Developmental and Epileptic Encephalopathy\n\nAlso see DEE2 ({300672}), caused by mutation in the CDKL5 gene ({300203}); DEE3 ({609304}), caused by mutation in the SLC25A22 gene ({609302}); DEE4 ({612164}), caused by mutation in the STXBP1 gene ({602926}); DEE5 ({613477}), caused by mutation in the SPTAN1 gene ({182810}); DEE6A ({607208}), also known as Dravet syndrome, caused by mutation in the SCN1A gene ({182389}); DEE6B ({619317}), also caused by mutation in the SCN1A gene; DEE7 ({613720}), caused by mutation in the KCNQ2 gene ({602235}); DEE8 ({300607}), caused by mutation in the ARHGEF9 gene ({300429}); DEE9 ({300088}), caused by mutation in the PCDH19 gene ({300460}); DEE10 ({613402}), caused by mutation in the PNKP gene ({605610}); DEE11 ({613721}), caused by mutation in the SCN2A gene ({182390}); DEE12 ({613722}), caused by mutation in the PLCB1 gene ({607120}); DEE13 ({614558}), caused by mutation in the SCN8A gene ({600702}); DEE14 ({614959}), caused by mutation in the KCNT1 gene ({608167}); DEE15 ({615006}), caused by mutation in the ST3GAL3 gene ({606494}); DEE16 ({615338}), caused by mutation in the TBC1D24 gene ({613577}); DEE17 ({615473}), caused by mutation in the GNAO1 gene ({139311}); DEE18 ({615476}), caused by mutation in the SZT2 gene ({615463}); DEE19 ({615744}), caused by mutation in the GABRA1 gene ({137160}); DEE20 ({300868}), caused by mutation in the PIGA gene ({311770}); DEE21 ({615833}), caused by mutation in the NECAP1 gene ({611623}); DEE22 ({300896}), caused by mutation in the SLC35A2 gene ({314375}); DEE23 ({615859}), caused by mutation in the DOCK7 gene ({615730}); DEE24 ({615871}), caused by mutation in the HCN1 gene ({602780}); DEE25 ({615905}), caused by mutation in the SLC13A5 gene ({608305}); DEE26 ({616056}), caused by mutation in the KCNB1 gene ({600397}); DEE27 ({616139}), caused by mutation in the GRIN2B gene ({138252}); DEE28 ({616211}), caused by mutation in the WWOX gene ({605131}); DEE29 ({616339}), caused by mutation in the AARS gene ({601065}); DEE30 ({616341}), caused by mutation in the SIK1 gene ({605705}); DEE31 ({616346}), caused by mutation in the DNM1 gene ({602377}); DEE32 ({616366}), caused by mutation in the KCNA2 gene ({176262}); DEE33 ({616409}), caused by mutation in the EEF1A2 gene ({602959}); DEE34 ({616645}), caused by mutation in the SLC12A5 gene ({606726}); DEE35 ({616647}), caused by mutation in the ITPA gene ({147520}); DEE36 ({300884}), caused by mutation in the ALG13 gene ({300776}); DEE37 ({616981}), caused by mutation in the FRRS1L gene ({604574}); DEE38 ({617020}), caused by mutation in the ARV1 gene ({611647}); DEE39 ({612949}), caused by mutation in the SLC25A12 gene ({603667}); DEE40 ({617065}), caused by mutation in the GUF1 gene ({617064}); DEE41 ({617105}), caused by mutation in the SLC1A2 gene ({600300}); DEE42 ({617106}), caused by mutation in the CACNA1A gene ({601011}); DEE43 ({617113}), caused by mutation in the GABRB3 gene ({137192}); DEE44 ({617132}), caused by mutation in the UBA5 gene ({610552}); DEE45 ({617153}), caused by mutation in the GABRB1 gene ({137190}); DEE46 ({617162}), caused by mutation in the GRIN2D gene ({602717}); DEE47 ({617166}), caused by mutation in the FGF12 gene ({601513}); DEE48 ({617276}), caused by mutation in the AP3B2 gene ({602166}); DEE49 ({617281}), caused by mutation in the DENND5A gene ({617278}); DEE50 ({616457}) caused by mutation in the CAD gene ({114010}); DEE51 ({617339}), caused by mutation in the MDH2 gene ({154100}); DEE52 ({617350}), caused by mutation in the SCN1B gene ({600235}); DEE53 ({617389}), caused by mutation in the SYNJ1 gene ({604297}); DEE54 ({617391}), caused by mutation in the HNRNPU gene ({602869}); DEE55 ({617599}), caused by mutation in the PIGP gene ({605938}); DEE56 ({617665}), caused by mutation in the YWHAG gene ({605356}); DEE57 ({617771}), caused by mutation in the KCNT2 gene ({610044}); DEE58 ({617830}), caused by mutation in the NTRK2 gene ({600456}); DEE59 ({617904}), caused by mutation in the GABBR2 gene ({607340}); DEE60 ({617929}), caused by mutation in the CNPY3 gene ({610774}); DEE61 ({617933}), caused by mutation in the ADAM22 gene ({603709}); DEE62 ({617938}), caused by mutation in the SCN3A gene ({182391}); DEE63 ({617976}), caused by mutation in the CPLX1 gene ({605032}); DEE64 ({618004}), caused by mutation in the RHOBTB2 gene ({607352}); DEE65 ({618008}), caused by mutation in the CYFIP2 gene ({606323}); DEE66 ({618067}), caused by mutation in the PACS2 gene ({610423}); DEE67 ({618141}), caused by mutation in the CUX2 gene ({610648}); DEE68 ({618201}), caused by mutation in the TRAK1 gene ({608112}); DEE69 ({618285}), caused by mutation in the CACNA1E gene ({601013}); DEE70 ({618298}) caused by mutation in the PHACTR1 gene ({608723}); DEE71 ({618328}), caused by mutation in the GLS gene ({138280}); DEE72 ({618374}), caused by mutation in the NEUROD2 gene ({601725}); DEE73 ({618379}), caused by mutation in the RNF13 gene ({609247}); DEE74 ({618396}), caused by mutation in the GABRG2 gene ({137164}); DEE75 ({618437}), caused by mutation in the PARS2 gene ({612036}); DEE76 ({618468}), caused by mutation in the ACTL6B gene ({612458}); DEE77 ({618548}), caused by mutation in the PIGQ gene ({605754}); DEE78 ({618557}), caused by mutation in the GABRA2 gene ({137140}); DEE79 ({618559}), caused by mutation in the GABRA5 gene ({137142}); DEE80 ({618580}), caused by mutation in the PIGB gene ({604122}); DEE81 ({618663}), caused by mutation in the DMXL2 gene ({612186}); DEE82 ({618721}), caused by mutation in the GOT2 gene ({138150}); DEE83 ({618744}), caused by mutation in the UGP2 gene ({191760}); DEE84 ({618792}), caused by mutation in the UGDH gene ({603370}); DEE85 ({301044}), caused by mutation in the SMC1A gene ({300040}); DEE86 ({618910}), caused by mutation in the DALRD3 gene ({618904}); DEE87 ({618916}), caused by mutation in the CDK19 gene ({614720}); DEE88 ({618959}), caused by mutation in the MDH1 gene ({152400}); DEE89 ({619124}), caused by mutation in the GAD1 gene ({605363}); DEE90 ({301058}), caused by mutation in the FGF13 gene ({300070}); DEE91 ({617711}), caused by mutation in the PPP3CA gene ({114105}); DEE92 ({617829}), caused by mutation in the GABRB2 gene ({600232}); DEE93 ({618012}), caused by mutation in the ATP6V1A gene ({607027}); DEE94 ({615369}), caused by mutation in the CHD2 gene ({602119}); DEE95 ({618143}), caused by mutation in the PIGS gene ({610271}); DEE96 ({619340}), caused by mutation in the NSF gene ({601633}); DEE97 ({619561}), caused by mutation in the iCELF2 gene ({602538}); DEE98 ({619605}), caused by mutation in the ATP1A2 gene ({182340}); DEE99 ({619606}), caused by mutation in the ATP1A3 gene ({182350}); DEE100 ({619777}), caused by mutation in the FBXO28 gene ({609100}); DEE101 ({619814}), caused by mutation in the GRIN1 gene ({138249}); DEE102 ({619881}), caused by mutation in the SLC38A3 gene ({604437}); and DEE103 ({619913}), caused by mutation in the KCNC2 gene ({176256}).\n\nThe phenotype is also observed in other genetic disorders, including GLUT1 deficiency syndrome ({606777}); glycine encephalopathy ({605899}); Aicardi-Goutieres syndrome ({225750}); and in males with MECP2 mutations ({300673}), among others.\n\nFor associations pending confirmation, see MOLECULAR GENETICS.",[308350],"[1934, 3451]","[Early infantile epileptic encephalopathy, Infantile spasms syndrome]","[7887, 9255]",,,,, +GARD:15299,Active,Orphanet+OMIM,OMIM:308800,Subtype of disorder,[Disease subtype],"Keratosis follicularis spinulosa decalvans, x-linked",[Keratosis follicularis spinulosa decalvans cum ophiasi],"Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by {2:Castori et al., 2009}).\n\nAutosomal dominant inheritance has also been reported (KFSD; {612843}).\n\nThe term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair.",[308800],[2340],[Keratosis follicularis spinulosa decalvans],[6829],,,,, +GARD:153,Legacy,GARD,,,,,,,,,,,,Sanderson Fraser syndrome,TRUE,FALSE,Active +GARD:1530,Legacy,GARD,,,,,,,,,,,,Corneal dystrophy pigmentary anomaly malabsorption,TRUE,FALSE,Active +GARD:15300,Active,Orphanet+OMIM,OMIM:308905,Subtype of disorder,[Disease subtype],"Leber hereditary optic neuropathy, modifier of","[lhon, modifier of, Leber optic atrophy, susceptibility to]","Leber optic atrophy, also known as Leber hereditary optic atrophy (LHON; {535000}), is characterized by bilateral, painless, subacute central vision loss in young adults resulting from primary degeneration of retinal ganglion cells (RGCs) accompanied by ascending optic atrophy (summary by {19:Yu et al., 2020}). Variation in mitochondrial DNA (mtDNA) contributes to the pathogenesis of the disease. Modifier of Leber optic atrophy (LOAM) exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by the LHON11778A mutation in the MTND4 gene ({516003.0001}) alone, due to the action of mutation in PRICKLE3 as a modifier of expression of the disease.\n\nFor a general description and discussion of genetic heterogeneity of Leber optic atrophy, see {535000}.",[308905],[104],[Leber hereditary optic neuropathy],[6870],,,,, +GARD:15301,Active,Orphanet+OMIM,OMIM:308990,Subtype of disorder,[Clinical subtype],"Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis",,"Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' ({11:Scheinman, 1998}; {3:Gambaro et al., 2004}). For a general discussion of Dent disease, see {300009}.",[308990],[93622],[Dent disease type 1],[1804],,,,, +GARD:15302,Active,Orphanet+OMIM,OMIM:309120,Subtype of disorder,[Disease subtype],"Spermatogenic failure, x-linked, 2",[Male infertility from defect in meiosis],,[309120],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15304,Active,Orphanet+OMIM,OMIM:309800,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, syndromic 1","[microphthalmia, syndromic 4, formerly, maa, formerly, anop1, formerly, lenz dysplasia, Lenz microphthalmia syndrome]","Syndromic microphthalmia-1 (MCOPS1) is an X-linked disorder characterized by unilateral or bilateral microphthalmia or anophthalmia. The most common extraocular features are impaired intellectual development, large and dysplastic ears with skin tags, high-arched or cleft palate, dental anomalies, urogenital anomalies, and skeletal manifestations including lordosis or scoliosis, clinodactyly, syndactyly, brachydactyly, and abnormal thumbs. There is considerable variation in severity among reported families ({17:Slavotinek et al., 2005}).\n\n<Subhead> Genetic Heterogeneity\n\nOther forms of syndromic microphthalmia include MCOPS2 ({300166}), caused by the BCOR gene ({300485}) on chromosome Xp11; MCOPS3 ({206900}), caused by mutation in the SOX2 gene ({184429}) on chromosome 3q26; MCOPS5 ({610125}), caused by mutation in the OTX2 gene ({600037}) on chromosome 14q22; MCOPS6 ({607932}), caused by mutation in the BMP4 gene ({112262}) on chromosome 14q22; MCOPS7 ({309801}), caused by mutation in the HCCS gene ({300056}) on chromosome Xp22; MCOPS9 ({601186}), caused by mutation in the STRA6 gene ({610745}) on chromosome 15q24; MCOPS11 ({614402}), caused by mutation in the VAX1 gene ({604294}) on chromosome 10q25; MCOPS12 ({615524}), caused by mutation in the RARB gene ({180220}) on chromosome 3p24; MCOPS13 ({300915}), caused by mutation in the HMGB3 gene ({300193}) on chromosome Xq28; MCOPS14 ({615877}), caused by mutation in the MAB21L2 gene ({604357}) on chromosome 4q31; and MCOPS15 ({615145}), caused by mutation in the TENM3 gene ({610083}) on chromosome 4q.\n\nA form of syndromic microphthalmia also maps to chromosome 6q21 (MCOPS8; {601349}). A form of microphthalmia associated with progressive brain atrophy has been reported (MCOPS10; {611222}).\n\nA form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1.\n\n{19:Williamson and FitzPatrick (2014)} reviewed genes associated with microphthalmia, anophthalmia, and/or coloboma phenotypes. They noted that when exon sequencing is combined with detection of gene deletions via aCGH and high-resolution analysis of intragenic microdeletions and microduplications, approximately 75% of cases of bilateral anophthalmia or severe microphthalmia are found to carry heterozygous mutations in the SOX2 ({184429}) or OTX2 ({600037}) genes, or biallelic mutations in the STRA6 gene ({610745}) (see also MCOPS5, {610125} and MCOPS9, {601186}).",[309800],[568],"[Microphthalmia, Lenz type]",[87],,,,, +GARD:15305,Active,Orphanet+OMIM,OMIM:310468,Subtype of disorder,[Clinical subtype],"Nephrolithiasis, x-linked recessive, with renal failure","[nephrolithiasis 1, Nephrolithiasis, x-linked recessive, type 1, urolithiasis, x-linked recessive, type 1]","X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' ({6:Scheinman, 1998}; {3:Gambaro et al., 2004}). For a general discussion of Dent disease, see {300009}.",[310468],[93622],[Dent disease type 1],[1804],,,,, +GARD:15306,Active,Orphanet+OMIM,OMIM:310500,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1a","[hemeralopia-myopia, myopia-night blindness, Csnb, complete, x-linked, night blindness, congenital stationary, with myopia]","Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of nonprogressive retinal disorders that can be characterized by impaired night vision, decreased visual acuity, nystagmus, myopia, and strabismus. CSNB can be classified into 2 groups based on electroretinography (ERG) findings: the Schubert-Bornschein type is characterized by an ERG in which the b-wave is smaller than the a-wave, whereas the Riggs type is defined by proportionally reduced a- and b-waves. In addition, Schubert-Bornschein CSNB is associated with decreased visual acuity, myopia, and nystagmus, whereas in Riggs CSNB patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by {33:Riazuddin et al., 2010}). Additionally, Schubert-Bornschein CSNB can be subdivided into 'complete' and 'incomplete' forms (summary by {33:Riazuddin et al., 2010}).\n\n{37:Van Genderen et al. (2009)} noted that standard flash ERG distinguishes a 'complete' form, also known as type 1 CSNB, from an 'incomplete' form, also known as type 2 CSNB (see CSNB2A, {300071}). The complete form is characterized by the complete absence of rod pathway function, whereas the incomplete form is due to impaired rod and cone pathway function. Complete CSNB results from postsynaptic defects in depolarizing or ON bipolar cell signaling, whereas the hyperpolarizing or OFF bipolar cell pathway is intact.\n\n{9:Bijveld et al. (2013)} noted that the term 'incomplete' CSNB refers to the less-impaired rod system function in CSNB2, whereas the more severely impaired cone system function results in a greater decrease in visual acuity, with a greater impact on a patient's daily life activities than the impairment in CSNB1. Thus, patients with so-called 'incomplete CSNB' actually experience more visual restrictions than those with 'complete CSNB,' which can be misleading to patients and their parents.\n\n<Subhead> Genetic Heterogeneity of Congenital Stationary Night Blindness\n\nAutosomal recessive forms of complete CSNB have been reported: CSNB1B ({257270}), caused by mutation in the GRM6 gene ({604096}); CSNB1C ({613216}), caused by mutation in the TRPM1 gene ({603576}); CSNB1D ({613830}), caused by mutation in the SLC24A1 gene ({603617}); and CSNB1E ({614565}), caused by mutation in the GPR179 gene ({614515}); CSNB1F ({615058}), caused by mutation in the LRIT3 gene ({615004}); CSNB1G ({139330}), caused by mutation in the GNAT1 gene ({139330}); and CSNB1H ({617024}), caused by mutation in the GNB3 gene ({139130}).\n\nAutosomal dominant forms of complete CSNB that have been reported include CSNBAD1 ({610445}), caused by mutation in the RHO gene ({180380}); CSNBAD2 ({163500}), caused by mutation in the PDE6B gene ({180072}); and CSNBAD3 ({610444}), caused by mutation in the GNAT1 gene ({139330}).\n\nIn addition, an X-linked recessive form of incomplete CSNB (CSNB2A; {300071}), caused by mutation in the CACNA1F gene ({300110}), has been reported.\n\nA form of autosomal recessive CSNB in which all other visual functions are normal is designated Oguchi disease: Oguchi type 1 ({258100}) is caused by mutation in the SAG gene ({181031}), and Oguchi type 2 ({613411}) is caused by mutation in the RHOK gene (GRK1; {180381}).\n\nIn 101 Dutch patients from 72 families diagnosed with CSNB, {9:Bijveld et al. (2013)} screened 6 known CSNB-associated genes and identified mutations in 94 patients. Of the 39 patients with CSNB1, 20 (51%) had mutations in the NYX gene, 10 (26%) in TRPM1, 4 in GRM6, and 2 in GPR179; no mutations were detected in 3 of these patients. Of the 62 patients diagnosed with CSNB2, 55 (89%) had mutations in the CACNA1F gene; no mutations were detected in 4 of these patients. {9:Bijveld et al. (2013)} stated that the electrophysiologic distinction between CSNB types 1 and 2 was thus confirmed by DNA analysis in 93% of the patients. In addition, 3 patients from the CSNB cohort, including 2 Dutch sibs originally reported by {22:Littink et al. (2009)}, were found to be homozygous for a nonsense mutation in the CABP4 gene and to exhibit a distinct phenotype that {22:Littink et al. (2009)} designated 'congenital cone-rod synaptic disorder' (CRSD; {610427}).",[310500],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15308,Active,Orphanet+OMIM,OMIM:313350,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 2,,"Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals ({3:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of split-hand/split-foot malformation, see SHFM1 ({183600}).",[313350],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15309,Active,Orphanet+OMIM,OMIM:314390,Subtype of disorder,[Malformation syndrome subtype],"Vacterl association, x-linked, with or without hydrocephalus","[Vacterl-h, x-linked]","VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see {192350}). Some patients may have hydrocephalus, which is referred to as VACTERL-H ({1:Briard et al., 1984}).",[314390],[3412],[VACTERL with hydrocephalus],[272],,,,, +GARD:1531,Active,Orphanet,ORPHA:3194,Disorder,[Malformation syndrome],Corneodermatoosseous syndrome,"[CDO syndrome, Stern-Lubinsky-Durrie syndrome]","A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.",[122440],,,,,Corneodermatoosseous syndrome,TRUE,FALSE,Active +GARD:15310,Active,Orphanet+OMIM,OMIM:400004,Subtype of disorder,[Disease subtype],"Retinitis pigmentosa, y-linked",,,[400004],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15311,Active,Orphanet+OMIM,OMIM:500001,Subtype of disorder,[Disease subtype],Leber optic atrophy and dystonia,"[Leber hereditary optic neuropathy with dystonia, marsden syndrome, dystonia, familial, with visual failure and striatal lucencies]",,[500001],[99718],[Leber plus disease],[8476],,,,, +GARD:15312,Active,Orphanet+OMIM,OMIM:500011,Subtype of disorder,[Disease subtype],"Myopathy, lactic acidosis, and sideroblastic anemia 3",,"MLASA3 is a severe mitochondrial disorder with early infantile presentation of transfusion-dependent sideroblastic anemia in the setting of failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay (summary by {1:Burrage et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of MLASA, see MLASA1 ({600462}).",[500011],[2598],[Mitochondrial myopathy and sideroblastic anemia],[3885],,,,, +GARD:15313,Active,Orphanet+OMIM,OMIM:598500,Subtype of disorder,[Disease subtype],"Wolfram syndrome, mitochondrial form","[didmoad syndrome, mitochondrial form, Diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form]",,[598500],[3463],[Wolfram syndrome],[7898],,,,, +GARD:15314,Active,Orphanet+OMIM,OMIM:600110,Subtype of disorder,[Disease subtype],Stargardt disease 3,"[Macular dystrophy with flecks, type 3, stargardt-like macular dystrophy, autosomal dominant]","Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects ({1:Bernstein et al., 2001}; {7:Maugeri et al., 2004}).",[600110],[827],[Stargardt disease],[181],,,,, +GARD:15315,Active,Orphanet+OMIM,OMIM:600155,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 2",,"The disorder described by {5:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[600155],[388],[Hirschsprung disease],[6660],,,,, +GARD:15316,Active,Orphanet+OMIM,OMIM:600156,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 5",,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[600156],[388],[Hirschsprung disease],[6660],,,,, +GARD:15317,Active,Orphanet+OMIM,OMIM:600416,Subtype of disorder,[Disease subtype],"Muscular dystrophy, scapulohumeral",,"{1:Jardine et al. (1994)} described 7 affected individuals, 3 men and 4 women, in a 2-generation family segregating a scapulohumeral muscular dystrophy. Weakness began in the shoulders between 12 and 40 years of age. There was no distal weakness in the upper or lower extremities and there were no sensory abnormalities. In several cases, there was marked asymmetry with weakness on the right side more than on the left. There was no demonstrable facial weakness in any of the affected individuals. Male-to-male transmission was not observed. There was only minimal elevation of creatine kinase in some individuals. Electromyography demonstrated low amplitude, short duration, and polyphasic units. Muscle biopsy demonstrated excessive variation of muscle fiber size and scattered fibers with internal nuclei, but there was no fiber type grouping on ATPase preparations. There were no contractures or dysarthria, distinguishing this syndrome from autosomal dominant limb-girdle dystrophy ({253600}) which typically begins with symptoms in the lower extremities. The absence of cardiomyopathy and contractures distinguished this disorder from Emery-Dreifuss muscular dystrophy ({310300}; {181350}). The existence of scapuloperoneal myopathy without contractures or cardiomyopathy as a separate condition from facioscapulohumeral dystrophy (FSHD; {158900}) has been debated. {1:Jardine et al. (1994)} pointed out the features of their cases were similar to those of FSHD except for the absence of facial weakness. Minimally affected patients with FSHD are best detected by the presence of facial weakness. In 1 large study of FSHD, the facial weakness was absent in only 2 of 113 individuals ({2:Lunt and Harper, 1991}). In the family of {1:Jardine et al. (1994)}, linkage analysis with markers D4S184, D4S139, and D4F104S1 yielded a maximum lod score of 1.61 at theta = 0.01. This suggested that the locus for scapulohumeral dystrophy may be the same as that for facioscapulohumeral dystrophy.",[600416],[269],[Facioscapulohumeral dystrophy],[9941],,,,, +GARD:15319,Active,Orphanet+OMIM,OMIM:600513,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 1",,"Autosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life ({9,8:Scheffer et al., 1994, 1995}). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families ({3:Hayman et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Nocturnal Frontal Lobe Epilepsy\n\nNocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 ({603204}), which maps to chromosome 15q24; ENFL3 ({605375}), caused by mutation in the CHRNB2 gene ({118507}) on chromosome 1q21; ENFL4 ({610353}), caused by mutation in the CHRNA2 gene ({118502}) on chromosome 8p21; and ENFL5 ({615005}), caused by mutation in the KCNT1 gene ({608167}) on chromosome 9q34.\n\nNocturnal frontal lobe seizures are also observed in some patients with familial focal epilepsy with variable foci (FFEVF; {604364}), caused by mutation in the DEPDC5 gene ({614191}) on chromosome 22q12.",[600513],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:1532,Legacy,GARD,,,,,,,,,,,,"Coronal synostosis, syndactyly and jejunal atresia",TRUE,FALSE,Active +GARD:15320,Active,Orphanet+OMIM,OMIM:600630,Subtype of disorder,[Disease subtype],Uv-sensitive syndrome 1,,"UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by {3:Horibata et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of UV-Sensitive Syndrome\n\nSee also UVSS2 ({614621}), caused by mutation in the ERCC8 gene ({609412}) on chromosome 5q12, and UVSS3 ({614640}), caused by mutation in the UVSSA gene ({614632}) on chromosome 4p16.",[600630],[178338],[UV-sensitive syndrome],[10947],,,,, +GARD:15321,Active,Orphanet+OMIM,OMIM:600638,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement",[Feom3 locus],"Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 ({135700}). CFEOM2 ({602078}) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by {9:Yamada et al., 2004} and {4:Heidary et al., 2008}).\n\n{8:Yamada et al. (2003)} concluded that CFEOM3 is a relatively rare form of CFEOM.\n\n<Subhead> Genetic Heterogeneity of CFEOM3\n\nThe CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B ({135700}), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C ({609384}), which maps to chromosome 13q.",[600638],[45358],[Congenital fibrosis of extraocular muscles],[12590],,,,, +GARD:15322,Active,Orphanet+OMIM,OMIM:600795,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 7,"[Amyotrophic lateral sclerosis 17, formerly, frontotemporal dementia, chromosome 3-linked, amyotrophic lateral sclerosis, chmp2b-related]","Frontotemporal dementia and/or amyotrophic lateral sclerosis-7 (FTDALS7) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD in adulthood. Some patients have ALS, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency, whereas others have FTD, manifest as behavioral and personality changes, memory loss, cognitive decline, and disinhibition. A few patients may have both phenotypes. Pathology typically shows UBB ({191339}), p62/sequestosome (SQSTM1; {601530}), and TDP43 ({605078})-immunoreactive intraneuronal inclusions (summary by {1:Brown et al., 1995} and {4:Cox et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[600795],"[275864, 803]","[Behavioral variant of frontotemporal dementia, Amyotrophic lateral sclerosis]","[7392, 5786]",,,,, +GARD:15323,Active,Orphanet+OMIM,OMIM:600884,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1b",,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[600884],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15324,Active,Orphanet+OMIM,OMIM:600901,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group e",[Face],"Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by {2:de Winter et al., 2000}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[600901],[84],[Fanconi anemia],[6425],,,,, +GARD:15325,Active,Orphanet+OMIM,OMIM:600903,Subtype of disorder,[Disease subtype],"Wiskott-aldrich syndrome, autosomal dominant",,,[600903],[906],[Wiskott-Aldrich syndrome],[7895],,,,, +GARD:15326,Active,Orphanet+OMIM,OMIM:600995,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 2","[Nephrotic syndrome, steroid-resistant, autosomal recessive]","Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by {6:Fuchshuber et al., 1996}). Some patients show later onset of the disorder ({13:Tsukaguchi et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300}).",[600995],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15327,Active,Orphanet+OMIM,OMIM:601202,Subtype of disorder,[Clinical subtype],Cataract 24,,"Anterior polar cataracts are small opacities on the anterior surface of the lens. They usually do not interfere with vision ({3:Moross et al., 1984}).\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Anterior Polar, 2; CTAA2.'",[601202],[98988],[Early-onset anterior polar cataract],[1140],,,,, +GARD:15328,Active,Orphanet+OMIM,OMIM:601363,Subtype of disorder,[Disease subtype],Wilms tumor 4,,"For a general phenotypic description and discussion of genetic heterogeneity of Wilms tumor, see WT1 ({194070}).",[601363],[654],[Nephroblastoma],[7892],,,,, +GARD:15329,Active,Orphanet+OMIM,OMIM:601399,Subtype of disorder,[Disease subtype],"Platelet disorder, familial, with associated myeloid malignancy","[Platelet disorder, aspirin-like, thrombocytopenia, familial, with propensity to acute myelogenous leukemia]",,[601399],[71290],[Familial platelet disorder with associated myeloid malignancy],[10352],,,,, +GARD:1533,Active,Orphanet,ORPHA:2041,Disorder,[Morphological anomaly],Coronary arterial fistula,,Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.,,,,,,Coronaro-cardiac fistula,TRUE,FALSE,Active +GARD:15330,Active,Orphanet+OMIM,OMIM:601462,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 1a, slow-channel","[cms iia, formerly, Myasthenic syndrome, congenital, type iia, formerly]","Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by {5:Engel et al., 2003}; {7:Engel et al., 2015}). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency ({5:Engel et al., 2003}).\n\nSlow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by {7:Engel et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Congenital Myasthenic Syndromes\n\nRecessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS ({11:Harper, 2004}). CMS1A and CMS1B ({608930}) are caused by mutation in the CHRNA1 gene ({100690}); CMS2A ({616313}) and CMS2C ({616314}) are caused by mutation in the CHRNB1 gene ({100710}) on 17p12; CMS3A ({616321}), CMS3B ({616322}), and CMS3C ({616323}) are caused by mutation in the CHRND gene ({100720}) on 2q33; and CMS4A ({605809}), CMS4B ({616324}), and CMS4C ({608931}) are caused by mutation in the CHRNE gene ({100725}) on 17p13.\n\nCMS5 ({603034}) is caused by mutation in the COLQ gene ({603033}) on 3p25; CMS6 ({254210}) is caused by mutation in the CHAT gene ({118490}) on 10q; CMS7 ({616040}) is caused by mutation in the SYT2 gene ({600104}) on 1q32; CMS8 ({615120}) is caused by mutation in the AGRN gene ({103320}) on 1p; CMS9 ({616325}) is caused by mutation in the MUSK gene ({601296}) on 9q31; CMS10 ({254300}) is caused by mutation in the DOK7 gene ({610285}) on 4p; CMS11 ({616326}) is caused by mutation in the RAPSN gene ({601592}) on 11p11; CMS12 ({610542}) is caused by mutation in the GFPT1 gene ({138292}) on 2p14; CMS13 ({614750}) is caused by mutation in the DPAGT1 gene ({191350}) on 11q23; CMS14 ({616228}) is caused by mutation in the ALG2 gene ({607905}) on 9q22; CMS15 ({616227}) is caused by mutation in the ALG14 gene ({612866}) on 1p21; CMS16 ({614198}) is caused by mutation in the SCN4A gene ({603967}) on 17q; CMS17 ({616304}) is caused by mutation in the LRP4 gene ({604270}) on 11p12; CMS18 ({616330}) is caused by mutation in the SNAP25 gene ({600322}) on 20p11; CMS19 ({616720}) is caused by mutation in the COL13A1 gene ({120350}) on 10q22; CMS20 ({617143}) is caused by mutation in the SLC5A7 gene ({608761}) on 2q12; CMS21 ({617239}) is caused by mutation in the SLC18A3 gene ({600336}) on 10q11; CMS22 ({616224}) is caused by mutation in the PREPL gene ({609557}) on 2p21; CMS23 ({618197}) is caused by mutation in the SLC25A1 gene ({190315}) on 22q11; CMS24 ({618198}) is caused by mutation in the MYO9A gene ({604875}) on 15q22; and CMS25 ({618323}) is caused by mutation in the VAMP1 gene ({185880}) on 12p13.",[601462],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15331,Active,Orphanet+OMIM,OMIM:601493,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction",,,[601493],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15332,Active,Orphanet+OMIM,OMIM:601494,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1d","[Left ventricular noncompaction 6, included]",,[601494],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15334,Active,Orphanet+OMIM,OMIM:601518,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 1",[Prca1],,[601518],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15335,Active,Orphanet+OMIM,OMIM:601547,Subtype of disorder,"[Clinical subtype, Malformation syndrome subtype]","Cataract 3, multiple types","[Cataract 3, multiple types, with or without microcornea, cataract, congenital, cerulean type, 2]","Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal.\n\nBefore it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2.",[601547],"[1377, 98994]","[Cataract-microcornea syndrome, Total early-onset cataract]","[1155, 1159]",,,,, +GARD:15336,Active,Orphanet+OMIM,OMIM:601583,Subtype of disorder,[Disease subtype],Wilms tumor 5,"[Wilms tumor, susceptibility to]",,[601583],[654],[Nephroblastoma],[7892],,,,, +GARD:15337,Active,Orphanet+OMIM,OMIM:601813,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 4,,"Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {3:Poulter et al., 2010}).\n\nFor a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 ({133780}).",[601813],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:1534,Active,Orphanet,ORPHA:1081,Group of disorders,[Category],Coronary artery congenital malformation,,,,,,,,Coronary arteries congenital malformation,TRUE,FALSE,Active +GARD:15340,Active,Orphanet+OMIM,OMIM:601992,Subtype of disorder,[Disease subtype],Friedreich ataxia 2,,"Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by {2:Delatycki et al., 2000}).\n\nFor a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 ({229300}), which is caused by mutation in the FXN gene ({606829}) on chromosome 9q13.",[601992],[95],[Friedreich ataxia],[6468],,,,, +GARD:15341,Active,Orphanet+OMIM,OMIM:602078,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, 2","[Feom2 locus, fibrosis of extraocular muscles, congenital, autosomal recessive]","Congenital fibrosis of extraocular muscles-2 (CFEOM2) is an autosomal recessive disorder in which affected individuals are born with bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) ({3:Wang et al., 1998}, {2:Nakano et al., 2001}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of various forms of CFEOM, see CFEOM1 ({135700}).",[602078],[45358],[Congenital fibrosis of extraocular muscles],[12590],,,,, +GARD:15342,Active,Orphanet+OMIM,OMIM:602093,Subtype of disorder,[Disease subtype],Cone dystrophy 3,[Retinal cone dystrophy],"Progressive cone dystrophy usually presents in childhood or early adult life, with many patients developing rod photoreceptor involvement in later life, thereby leading to considerable overlap between progressive cone dystrophy and cone-rod dystrophy. Both progressive cone dystrophy and cone-rod dystrophy have been associated with mutation in the GUCA1A gene ({5:Michaelides et al., 2006}).\n\nIntrafamilial variability in GUCA1A-associated macular disease ranges from mild photoreceptor degeneration to central areolar choroidal dystrophy (CACD), a form of retinal degeneration that primarily involves the macula and is characterized by a well-defined atrophic region of retinal pigment epithelium and choriocapillaris in the latest stage ({1:Chen et al., 2017}).",[602093],[1871],[Progressive cone dystrophy],[11897],,,,, +GARD:15343,Active,Orphanet+OMIM,OMIM:602099,Subtype of disorder,[Disease subtype],"Amyotrophic lateral sclerosis 5, juvenile",,"Autosomal recessive juvenile amyotrophic lateral sclerosis-5 is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by {3:Orlacchio et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 ({105400}).",[602099],[300605],[Juvenile amyotrophic lateral sclerosis],[11901],,,,, +GARD:15344,Active,Orphanet+OMIM,OMIM:602114,Subtype of disorder,[Disease subtype],"Nephropathy, progressive tubulointerstitial, with cholestatic liver disease",,,[602114],[171],[Primary sclerosing cholangitis],[1280],,,,, +GARD:15346,Active,Orphanet+OMIM,OMIM:602483,Subtype of disorder,[Malformation syndrome subtype],Auriculocondylar syndrome 1,[Question mark ears syndrome],"Auriculocondylar syndrome (ARCND) is an autosomal dominant disorder of the first and second pharyngeal arches and is characterized by malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia (summary by {7:Masotti et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Auriculocondylar Syndrome\n\nAuriculocondylar syndrome-2 (ARCND2; {614669}) is caused by mutation in the PLCB4 gene ({600810}) on chromosome 20p12.3-p12.2. ARCND3 ({615706}) is caused by mutation in the EDN1 gene ({131240}) on chromosome 6p24.\n\nSee also {612798} for isolated question mark ears.",[602483],[137888],[Auriculocondylar syndrome],[9798],,,,, +GARD:15347,Active,Orphanet+OMIM,OMIM:602497,Subtype of disorder,[Malformation syndrome subtype],"Chondrodysplasia punctata, brachytelephalangic, autosomal",[Brachytelephalangic chondrodysplasia punctata],"For a general phenotypic description and discussion of genetic heterogeneity of chondrodysplasia punctata, see CDPX2 ({302960}).",[602497],[79345],[Brachytelephalangic chondrodysplasia punctata],[1296],,,,, +GARD:15348,Active,Orphanet+OMIM,OMIM:602522,Subtype of disorder,[Clinical subtype],"Bartter syndrome, type 4a, neonatal, with sensorineural deafness","[Bartter syndrome, neonatal, with sensorineural deafness]","Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed ({11:Simon et al., 1997}).\n\nPatients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by {12:Simon et al., 1996} and {3:Fremont and Chan, 2012}).\n\nFor a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.",[602522],[89938],[Bartter syndrome type 4],[10508],,,,, +GARD:15349,Active,Orphanet+OMIM,OMIM:602540,Subtype of disorder,[Disease subtype],"Ichthyosis, hystrix-like, with deafness",[Hid syndrome],,[602540],[477],[KID syndrome],[3113],,,,, +GARD:1535,Legacy,GARD,,,,,,,,,,,,Corpus callosum agenesis,TRUE,FALSE,Active +GARD:15350,Active,Orphanet+OMIM,OMIM:602722,Subtype of disorder,[Clinical subtype],"Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss",[Rtadr],,[602722],[402041],[Autosomal recessive distal renal tubular acidosis],[4666],,,,, +GARD:15351,Active,Orphanet+OMIM,OMIM:602759,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 8",,"For a general discussion of hereditary prostate cancer, see {176807}.",[602759],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15352,Active,Orphanet+OMIM,OMIM:603204,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 2",,"Nocturnal frontal lobe epilepsy-2 (ENFL2) is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations (summary by {1:Derry et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 ({600513}).",[603204],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:15353,Active,Orphanet+OMIM,OMIM:603278,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 1,"[Glomerulosclerosis, focal segmental, 1]","Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; {256300}), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by {4:D'Agati et al., 2004}; {10:Mathis et al., 1998}).\n\n{5:D'Agati et al. (2011)} provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte.\n\nBecause of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature.\n\n<Subhead> Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic Syndrome\n\nFocal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 ({603965}), caused by mutation in the TRPC6 gene ({603652}); FSGS3 ({607832}), associated with variation in the CD2AP gene ({604241}); FSGS4 ({612551}), mapped to chromosome 22q12; FSGS5 ({613237}), caused by mutation in the INF2 gene ({610982}); FSGS6 ({614131}), caused by mutation in the MYO1E gene ({601479}); FSGS7 ({616002}), caused by mutation in the PAX2 gene ({167409}); FSGS8 ({616032}), caused by mutation in the ANLN gene ({616027}); FSGS9 ({616220}), caused by mutation in the CRB2 gene ({609720}); and FSGS10 ({256020}), caused by mutation in the LMX1B gene ({602575}).\n\nSee also NPHS1 ({256300}), caused by mutation in the NPHS1 gene ({602716}); NPHS2 ({600995}), caused by mutation in the podocin gene ({604766}); NPHS3 ({610725}), caused by mutation in the PLCE1 gene ({608414}); NPHS4 ({256370}), caused by mutation in the WT1 gene ({607102}); NPHS5 ({614199}), caused by mutation in the LAMB2 gene ({150325}); NPHS6 ({614196}), caused by mutation in the PTPRO gene ({600579}); NPHS7 ({615008}), caused by mutation in the DGKE gene ({601440}); NPHS8 ({615244}), caused by mutation in the ARHGDIA gene ({601925}); NPHS9 ({615573}), caused by mutation in the COQ8B gene ({615567}); NPHS10 ({615861}), caused by mutation in the EMP2 gene ({602334}); NPHS11 ({616730}), caused by mutation in the NUP107 gene ({607617}); NPHS12 ({616892}), caused by mutation in the NUP93 gene ({614351}); NPHS13 ({616893}), caused by mutation in the NUP205 gene ({614352}); NPHS14 ({617575}), caused by mutation in the SGPL1 gene ({603729}); NPHS15 ({617609}), caused by mutation in the MAGI2 gene ({606382}); NPHS16 ({617783}), caused by mutation in the KANK2 gene ({614610}), NPHS17 ({618176}), caused by mutation in the NUP85 gene ({170285}); NPHS18 ({618177}), caused by mutation in the NUP133 gene ({607613}); NPHS19 ({618178}), caused by mutation in the NUP160 gene ({607614}); NPHS20 ({301028}), caused by mutation in the TBC1D8B gene ({301027}); and NPHS21 ({618594}) caused by mutation in the AVIL gene ({613397}).",[603278],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15354,Active,Orphanet+OMIM,OMIM:603386,Subtype of disorder,[Disease subtype],"Thyroid carcinoma, nonmedullary, with or without cell oxyphilia",,"The familial form of nonmedullary thyroid carcinoma (NMTC) is a complex genetic disorder characterized by multifocal neoplasia and a higher degree of aggressiveness than its sporadic counterpart.\n\nOne peculiar form of thyroid tumors is characterized by the presence of cell oxyphilia. Oxophil cells are found in a minority of thyroid tumors, either benign or malignant. These cells show a large volume of granular eosinophilic cytoplasm and are very rich in mitochondria. The familial occurrence of thyroid tumors with cell oxyphilia was reported by {4:Katoh et al. (1998)}. {2:Canzian et al. (1998)} reported such a family with affected members in 3 generations and by linkage analysis mapped the gene to 19p13.\n\nFor general phenotypic information and a discussion of genetic heterogeneity of NMTC, see {188550}.",[603386],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:15355,Active,Orphanet+OMIM,OMIM:603467,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group f",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nClinical features of FANCF include microcephaly, small or absent thumbs, short stature, microphthalmia, microtia, hearing loss, pigmentary anomalies (cafe-au-lait spots or hyperpigmentation), small or pelvic kidneys, and cardiac anomalies ({3:Tryon et al., 2017}; {4:Zareifar et al., 2019}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[603467],[84],[Fanconi anemia],[6425],,,,, +GARD:15356,Active,Orphanet+OMIM,OMIM:603649,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 7,,,[603649],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15357,Active,Orphanet+OMIM,OMIM:603688,Subtype of disorder,[Disease subtype],Prostate cancer/brain cancer susceptibility,"[Pcbc, capb]",,[603688],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15358,Active,Orphanet+OMIM,OMIM:603744,Subtype of disorder,[Disease subtype],Papillary thyroid microcarcinoma,,"The familial type of medullary thyroid carcinoma ({155240}) is a well-defined clinical entity. However, much less is known about the familial occurrence of differentiated thyroid carcinoma. Two patterns of presentation had been described for familial differentiated thyroid cancer: a pattern associated with an inherited tumor syndrome such as Gardner syndrome (APC; {175100}) and Cowden disease ({158350}), and a second pattern of familial aggregation without other associated neoplasms. A further classification of thyroid tumors is based on size: papillary microcarcinoma of the thyroid is defined as a papillary carcinoma measuring 1.0 cm or less in diameter. This group of patients has been thought to be a specific low-risk category with a favorable prognosis ({1:Hay et al., 1992}). {2:Lupoli et al. (1999)} identified a family history of thyroid carcinoma in 7 of 119 patients with papillary thyroid microcarcinoma. The tumor was multifocal in 5 patients, bilateral in 3, and showed vascular invasion in 3 of the 7 patients. Lymph node metastases were found in 4 patients. Three patients had a recurrence and 1 patient with pulmonary metastases died within 11 months. Thus, familial occurrence was observed in 5.9% of cases, together with an unfavorable behavior of the familial form of the disorder.",[603744],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:15359,Active,Orphanet+OMIM,OMIM:603786,Subtype of disorder,[Disease subtype],Stargardt disease 4,,"Stargardt disease is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait (see {248200}), but STGD4 is inherited as an autosomal dominant trait (summary by {2:Kniazeva et al., 1999}).",[603786],[827],[Stargardt disease],[181],,,,, +GARD:1536,Legacy,GARD,,,,,,,,,,,,Corpus callosum agenesis double urinary collecting,TRUE,FALSE,Active +GARD:15360,Active,Orphanet+OMIM,OMIM:603802,Subtype of disorder,[Etiological subtype],Microcephaly with simplified gyral pattern,,,[603802],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15361,Active,Orphanet+OMIM,OMIM:603909,Subtype of disorder,[Disease subtype],"Autoimmune lymphoproliferative syndrome, type iia","[Autoimmune lymphoproliferative syndrome, type ii]",,[603909],[3261],[Autoimmune lymphoproliferative syndrome],[8686],,,,, +GARD:15362,Active,Orphanet+OMIM,OMIM:603965,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 2,"[Glomerulosclerosis, focal segmental, 2]","Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (review by {1:Meyrier, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome (NPHS), see FSGS1 ({603278}).",[603965],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15363,Active,Orphanet+OMIM,OMIM:604145,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1g",,"Dilated cardiomyopathy-1G (CMD1G) is an autosomal dominant disorder characterized by ventricular dilatation and systolic contractile dysfunction ({5:Siu et al., 1999}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see CMD1A ({115200}).",[604145],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15364,Active,Orphanet+OMIM,OMIM:604219,Subtype of disorder,[Malformation syndrome subtype],"Cataract 9, multiple types","[cataract, autosomal recessive congenital 1, cataract, autosomal dominant, Cataract 9, multiple types, with or without microcornea]","Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene.",[604219],[1377],[Cataract-microcornea syndrome],[1155],,,,, +GARD:15365,Active,Orphanet+OMIM,OMIM:604288,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1h",,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[604288],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15366,Active,Orphanet+OMIM,OMIM:604317,Subtype of disorder,[Etiological subtype],"Microcephaly 2, primary, autosomal recessive, with or without cortical malformations",,"Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology ({4:Hofman, 1984}). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by {9:Yu et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[604317],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15367,Active,Orphanet+OMIM,OMIM:604321,Subtype of disorder,[Etiological subtype],"Microcephaly 4, primary, autosomal recessive",,"Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by {5:Woods et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[604321],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15368,Active,Orphanet+OMIM,OMIM:604348,Subtype of disorder,[Disease subtype],"Advanced sleep phase syndrome, familial, 1",,"Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by {2:Jones et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Advanced Sleep Phase Syndrome\n\nSee also FASPS2 ({615224}), caused by mutation in the CSNK1D gene ({600864}) on chromosome 17q25, and FASPS3 ({616882}), caused by mutation in the PER3 gene ({603427}) on chromosome 1p36.",[604348],[164736],[Familial advanced sleep-phase syndrome],[9242],,,,, +GARD:1537,Active,Orphanet,ORPHA:1496,Disorder,[Disease],Corpus callosum agenesis-neuronopathy syndrome,"[Andermann syndrome, Charlevoix disease]","Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.",[218000],,,,,Andermann syndrome,TRUE,FALSE,Active +GARD:15370,Active,Orphanet+OMIM,OMIM:604547,Subtype of disorder,[Malformation syndrome subtype],"Van der woude syndrome 1, modifier of",[Vwsm],,[604547],[888],[Van der Woude syndrome],[8414],,,,, +GARD:15372,Active,Orphanet+OMIM,OMIM:604765,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1i",,,[604765],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15373,Active,Orphanet+OMIM,OMIM:604804,Subtype of disorder,[Etiological subtype],"Microcephaly 3, primary, autosomal recessive",,,[604804],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15374,Active,Orphanet+OMIM,OMIM:604928,Subtype of disorder,[Disease subtype],Wolfram syndrome 2,,"Wolfram syndrome-2 is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding (summary by {4:Mozzillo et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Wolfram syndrome, see WFS1 ({222300}).",[604928],[3463],[Wolfram syndrome],[7898],,,,, +GARD:15375,Active,Orphanet+OMIM,OMIM:604931,Subtype of disorder,[Malformation syndrome subtype],Cortisone reductase deficiency 1,,"Cortisone reductase deficiency (CRD) results from a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (HSD11B1; {600713}). The oxoreductase activity of 11-beta-HSD requires the NADPH-regenerating enzyme hexose-6-phosphate dehydrogenase (H6PD; {138090}) within the endoplasmic reticulum. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, which in CRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by {5:Lavery et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Cortisone Reductase Deficiency\n\nCORTRD2 ({614662}) is caused by mutation in the HSD11B1 gene ({600713}) on chromosome 1q32.",[604931],[168588],[Hyperandrogenism due to cortisone reductase deficiency],[9882],,,,, +GARD:15376,Active,Orphanet+OMIM,OMIM:605019,Subtype of disorder,[Disease subtype],"Hypobetalipoproteinemia, familial, 2","[Hypolipidemia, familial, combined]","Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. Heritable primary causes of HBL include chylomicron retention disease (CMRD; {246700}), abetalipoproteinemia ({200100}), and familial hypobetalipoproteinemia (FHBL) (summary by {4:Martin-Campos et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial hypobetalipoproteinemia, see FHBL1 ({615558}).",[605019],[14],[Abetalipoproteinemia],[5],,,,, +GARD:15377,Active,Orphanet+OMIM,OMIM:605244,Subtype of disorder,[Disease subtype],"Carney complex, type 2",,"For a general phenotypic description and a discussion of genetic heterogeneity of Carney complex, see CNC1 ({160980}).",[605244],[1359],[Carney complex],[1119],,,,, +GARD:15378,Active,Orphanet+OMIM,OMIM:605289,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 4,,"Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM4 have been found to have mental retardation, ectodermal findings, and orofacial clefting ({1:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 ({183600}).",[605289],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15379,Active,Orphanet+OMIM,OMIM:605293,Subtype of disorder,[Disease subtype],Optic atrophy 4,,"For a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[605293],[98673],"[Autosomal dominant optic atrophy, classic form]",[9890],,,,, +GARD:1538,Legacy,GARD,,,,,,,,,,,,Corpus callosum agenesis of blepharophimosis Robin type,TRUE,FALSE,Active +GARD:15380,Active,Orphanet+OMIM,OMIM:605375,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 3",,,[605375],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:15381,Active,Orphanet+OMIM,OMIM:605549,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 8,,"For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see {120970}.",[605549],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15382,Active,Orphanet+OMIM,OMIM:605582,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1k",,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[605582],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15383,Active,Orphanet+OMIM,OMIM:605594,Subtype of disorder,[Clinical subtype],"Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1","[dfna39/dgi1 syndrome, Dfna39/dentinogenesis imperfecta 1 syndrome, dgi1/dfna39 syndrome]",,[605594],[166260],[Dentinogenesis imperfecta type 2],[12796],,,,, +GARD:15384,Active,Orphanet+OMIM,OMIM:605672,Subtype of disorder,[Disease subtype],Cerebellar ataxia and hypergonadotropic hypogonadism,,"{1:Amor et al. (2001)} described 2 sisters with onset of progressive cerebellar ataxia at the age of 16 and 32 years, respectively, and secondary amenorrhea due to hypergonadotropic hypogonadism. Sensorineural deafness with vestibular hypofunction and peripheral sensory impairment were also present. Intellect was normal. The authors referred to reports that may represent the same disorder, e.g., that of {2:Skre et al. (1976)}. Cerebellar ataxia and hypogonadotropic hypogonadism is discussed elsewhere; see {212840}.",[605672],[1173],[Cerebellar ataxia-hypogonadism syndrome],[3314],,,,, +GARD:15385,Active,Orphanet+OMIM,OMIM:605738,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 2",,"For a discussion of genetic heterogeneity of isolated colobomatous microphthalmia, see MCOPCB1 ({300345}).",[605738],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15386,Active,Orphanet+OMIM,OMIM:605750,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 3,,"Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {3:Poulter et al., 2010}).\n\nFor a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 ({133780}).",[605750],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:15387,Active,Orphanet+OMIM,OMIM:605809,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 4a, slow-channel","[Congenital myasthenic syndrome type ia1, formerly, cms ia1, formerly]","Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by {5:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[605809],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15388,Active,Orphanet+OMIM,OMIM:605841,Subtype of disorder,[Disease subtype],"Narcolepsy 2, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[605841],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15389,Active,Orphanet+OMIM,OMIM:606002,Subtype of disorder,[Disease subtype],"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2","[ataxia-ocular apraxia 2, Ataxia-oculomotor apraxia 2, spinocerebellar ataxia, autosomal recessive 1, formerly]","Autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 is a neurodegenerative disorder characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein (AFP; {104150}). Oculomotor apraxia is a common but inconsistent finding, found in about 50% of patients; hence this disorder is sometimes referred to as 'ataxia-oculomotor apraxia-2' (AOA2) ({14:Moreira et al., 2004}; summary by {11:Ichikawa et al., 2013}).\n\n{9:Duquette et al. (2005)} emphasized that oculomotor apraxia is not a universal finding in this disorder and suggested the name 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy-2' (SCAN2) to distinguish it from SCAN1 ({607250}).\n\nFor a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 ({208920}).\n\nFor a discussion of genetic heterogeneity of SCAN, see SCAN1 ({607250}).",[606002],[64753],[Spinocerebellar ataxia with axonal neuropathy type 2],[12860],,,,, +GARD:15390,Active,Orphanet+OMIM,OMIM:606164,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 15 with mandibulofacial dysostosis,,,[606164],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15391,Active,Orphanet+OMIM,OMIM:606240,Subtype of disorder,[Disease subtype],"Thyroid cancer, nonmedullary, 3",,"Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; {155240}). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell ({607464}), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis {175100}, Carney complex {160980}) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by {4:Vriens et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550}).",[606240],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:15392,Active,Orphanet+OMIM,OMIM:606391,Subtype of disorder,[Disease subtype],Maturity-onset diabetes of the young,[Mason-type diabetes],"Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity ({18:Vaxillaire and Froguel, 2008}).\n\n<Subhead> Genetic Heterogeneity of MODY\n\nMODY1 ({125850}) is caused by heterozygous mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A; {600281}) on chromosome 20.\n\nMODY2 ({125851}) is caused by heterozygous mutation in the glucokinase gene (GCK; {138079}) on chromosome 7.\n\nMODY3 ({600496}) is caused by heterozygous mutation in the hepatocyte nuclear factor-1alpha gene (HNF1A; {142410}) on chromosome 12q24.2.\n\nMODY4 ({606392}) is caused by heterozygous mutation in the pancreas/duodenum homeobox protein-1 gene (PDX1; {600733}) on chromosome 13q12.1.\n\nMODY5 ({137920}) is caused by heterozygous mutation in the gene encoding hepatic transcription factor-2 (TCF2; {189907}) on chromosome 17cen-q21.3.\n\nMODY6 ({606394}) is caused by heterozygous mutation in the NEUROD1 gene ({601724}) on chromosome 2q32.\n\nMODY7 ({610508}) is caused by heterozygous mutation in the KLF11 gene ({603301}) on chromosome 2p25.\n\nMODY8 ({609812}), or diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the CEL gene ({114840}) on chromosome 9q34.\n\nMODY9 ({612225}) is caused by heterozygous mutation in the PAX4 gene ({167413}) on chromosome 7q32.\n\nMODY10 ({613370}) is caused by heterozygous mutation in the insulin gene (INS; {176730}) on chromosome 11p15.5.\n\nMODY11 ({613375}) is caused by heterozygous mutation in the BLK gene ({191305}) on chromosome 8p23.\n\nMODY13 ({616329}) is caused by heterozygous mutation in the KCNJ11 gene ({600937}) on chromosome 11p15.\n\nMODY14 ({616511}) is caused by heterozygous mutation in the APPL1 gene ({604299}) on chromosome 3p14.",[606391],[552],[MODY],[3697],,,,, +GARD:15393,Active,Orphanet+OMIM,OMIM:606545,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 3","[Collodion baby, self-healing, ichthyosis, lamellar, 5, formerly]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({9:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {8:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[606545],"[281122, 79394, 313]","[Lamellar ichthyosis, Self-improving collodion baby, Congenital non-bullous ichthyosiform erythroderma]","[10803, 9736, 17303]",,,,, +GARD:15394,Active,Orphanet+OMIM,OMIM:606660,Subtype of disorder,[Disease subtype],"Melanoma, uveal, susceptibility to, 1",,"Uveal melanoma ({155720}) is the most common primary intraocular malignancy. Monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease. To obtain positional information on putative tumor suppressor genes on chromosome 3, {1:Tschentscher et al. (2001)} investigated tumors from 333 patients by comparative genomic hybridization, microsatellite analysis, or conventional karyotype analysis. A partial deletion of the long arm was found in 8 tumors, and the smallest region of deletion overlap (SRO) spanned 3q24-q26. They found 6 tumors with a partial deletion of the short arm and defined a second SRO of about 2.5 Mb in 3p25. {1:Tschentscher et al. (2001)} interpreted their findings as suggesting a role for 2 tumor suppressor genes in metastasizing uveal melanoma: one on 3q, here designated UVM1, and a second on 3p25, here designated UVM2 ({606661}). The involvement of 2 tumor suppressor genes may explain the loss of an entire chromosome 3 in metastatic uveal melanomas.",[606660],[39044],[Uveal melanoma],[8621],,,,, +GARD:15395,Active,Orphanet+OMIM,OMIM:606661,Subtype of disorder,[Disease subtype],"Melanoma, uveal, susceptibility to, 2",,"Uveal melanoma ({155720}) is the most common primary intraocular malignancy. Monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease. To obtain positional information on putative tumor suppressor genes on chromosome 3, {2:Tschentscher et al. (2001)} investigated tumors from 333 patients by comparative genomic hybridization, microsatellite analysis, or conventional karyotype analysis. A partial deletion of the long arm was found in 8 tumors, and the smallest region of deletion overlap (SRO) spanned 3q24-q26. They found 6 tumors with a partial deletion of the short arm and defined a second SRO of about 2.5 Mb in 3p25. This SRO did not overlap with the von Hippel-Lindau disease gene ({608537}). {2:Tschentscher et al. (2001)} interpreted their findings as suggesting a role for 2 tumor suppressor genes in metastasizing uveal melanoma: one on 3q, here designated UVM1 ({606660}), and a second on 3p25, here designated UVM2. The involvement of 2 tumor suppressor genes may explain the loss of an entire chromosome 3 in metastatic uveal melanomas.\n\n{1:Parrella et al. (2003)} mapped both arms of chromosome 3 in 21 uveal melanomas that did not show monosomy 3 in previous allelotype studies. DNA was isolated from microdissected paraffin sections of posterior uveal melanoma treated by enucleation from 1993 to 1998 and archived by the Eye Pathology Laboratory of the Wilmer Ophthalmologic Institute, Johns Hopkins. In an initial screening, 14 microsatellite markers on 3p and 13 on 3q were used. Loss of heterozygosity for at least 1 marker was found in 9 of 21 tumors (43%) on 3p and 8 of 21 tumors (38%) on 3q. Two common regions of allelic loss on 3p were further mapped with an additional 14 microsatellite markers. A 1.4-Mb minimal region of allelic loss was identified between microsatellite markers D3S3610 and D3S1554 on 3p25.2-p25.1. Ten tumors had allelic loss in this region; 2 of these tumors had corresponding putative homozygous deletions.",[606661],[39044],[Uveal melanoma],[8621],,,,, +GARD:15396,Active,Orphanet+OMIM,OMIM:606662,Subtype of disorder,[Clinical subtype],"Waardenburg syndrome, type 2c",,"Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS ({1:Selicorni et al., 2002}). WS type 2C (WS2C) maps to chromosome 8p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580}).",[606662],[895],[Waardenburg syndrome type 2],[5520],,,,, +GARD:15397,Active,Orphanet+OMIM,OMIM:606685,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1l",,"Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A ({115200}).",[606685],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15398,Active,Orphanet+OMIM,OMIM:606708,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation 5,,"Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM5 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting ({3:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 ({183600}).",[606708],[2440],[Isolated split hand-split foot malformation],[6319],,,,, +GARD:15399,Active,Orphanet+OMIM,OMIM:606744,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 2,"[microcephalic primordial dwarfism 2, Seckel-type dwarfism 2]","Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance ({1:Borglum et al., 2001}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 ({210600}).",[606744],[808],[Seckel syndrome],[8562],,,,, +GARD:154,Legacy,GARD,,,,,,,,,,,,Sandhaus Ben-Ami syndrome,TRUE,FALSE,Active +GARD:15400,Active,Orphanet+OMIM,OMIM:606763,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 2","[Ciliary dyskinesia, primary, 2, with or without situs inversus]",,[606763],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15401,Active,Orphanet+OMIM,OMIM:606856,Subtype of disorder,[Disease subtype],"Pancreatic cancer, susceptibility to, 1",[Pnca1],,[606856],[1333],[Familial pancreatic carcinoma],[4206],,,,, +GARD:15402,Active,Orphanet+OMIM,OMIM:606874,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 6",,"The disorder described by {4:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[606874],[388],[Hirschsprung disease],[6660],,,,, +GARD:15403,Active,Orphanet+OMIM,OMIM:606875,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 7",,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[606875],[388],[Hirschsprung disease],[6660],,,,, +GARD:15404,Active,Orphanet+OMIM,OMIM:606943,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ig",,"Usher syndrome is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa. The syndrome is both clinically and genetically heterogeneous. Of the 3 different clinical types that have been described, USH1 ({276900}), consisting of the association of profound congenital deafness, constant vestibular dysfunction, and prepubertal onset retinitis pigmentosa, is the most severe.",[606943],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:15405,Active,Orphanet+OMIM,OMIM:606995,Subtype of disorder,[Disease subtype],Senior-loken syndrome 3,,"For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see {266900}.",[606995],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15406,Active,Orphanet+OMIM,OMIM:606996,Subtype of disorder,[Disease subtype],Senior-loken syndrome 4,,,[606996],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15407,Active,Orphanet+OMIM,OMIM:607004,Subtype of disorder,[Malformation syndrome subtype],"Brachydactyly, type a1, b",,"For a general phenotypic description and discussion of genetic heterogeneity of type A1 brachydactyly, see BDA1 ({112500}).",[607004],[93388],[Brachydactyly type A1],[978],,,,, +GARD:15408,Active,Orphanet+OMIM,OMIM:607086,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 1",,"Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm ({100070}) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes.\n\nMedial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome ({154700}), and vascular (type IV) Ehlers-Danlos syndrome ({130050}). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome.\n\n<Subhead> Genetic Heterogeneity of Thoracic Aortic Aneurysm\n\nLoci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2; {607087}). Mutation in the MYH11 gene ({160745}) on chromosome 16p causes AAT4 ({132900}). Mutation in the ACTA2 gene ({102620}) on chromosome 10q causes AAT6 ({611788}). Mutation in the MYLK gene ({600922}) on chromosome 3q21 causes AAT7 ({613780}). Mutation in the PRKG1 gene ({176894}) on chromosome 10q11 causes AAT8 ({615436}). Mutation in the MFAP5 gene ({601103}) on chromosome 12p13 causes AAT9 ({616166}). Mutation in the LOX gene ({153455}) on chromosome 5q23 causes AAT10 ({617168}). Mutation in the FOXE3 gene ({601094}) on chromosome 1p33 causes susceptibility to AAT11 ({617349}).\n\nThoracic aortic aneurysm with dissection (e.g., AAT3 and AAT5) can occur as a manifestation of the Loeys-Dietz syndrome (see LDS2, {610168} and LDS1, {609192}, caused by mutation in the TGFBR2 ({190182}) and TGFBR1 ({190181}) genes, respectively).\n\n<Subhead> Reviews\n\n{20:Pyeritz (2014)} reviewed heritable thoracic aortic disorders with particular attention to causative genes, including components of the extracellular matrix, vascular smooth muscle cytoskeleton, and TGF-beta and other signaling pathways.",[607086],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:15409,Active,Orphanet+OMIM,OMIM:607087,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 2",,"For a phenotypic description and a discussion of genetic heterogeneity of familial thoracic aortic aneurysm, see {607086}.",[607087],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:1541,Legacy,GARD,,,,,,,,,,,,Corpus callosum dysgenesis cleft spasm,TRUE,FALSE,Active +GARD:15410,Active,Orphanet+OMIM,OMIM:607151,Subtype of disorder,[Disease subtype],Moyamoya disease 2,,"Moyamoya disease is a progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage (summary by {1:Kamada et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350}).",[607151],[2573],[Moyamoya disease],[7064],,,,, +GARD:15411,Active,Orphanet+OMIM,OMIM:607326,Subtype of disorder,[Disease subtype],Smith-mccort dysplasia 1,[Smc],"Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease. Spinal cord compression due to atlantoaxial instability occurs in both SMC and DMC ({6:Spranger et al., 1976}; {3:Nakamura et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Smith-McCort Dysplasia\n\nSmith-McCort dysplasia-2 (SMC2; {615222}) is caused by mutation in the RAB33B gene ({605950}) on chromosome 4q31.",[607326],[178355],[Smith-McCort dysplasia],[10620],,,,, +GARD:15412,Active,Orphanet+OMIM,OMIM:607398,Subtype of disorder,[Disease subtype],Glucocorticoid deficiency 2,[Familial glucocorticoid deficiency 2],"Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood (summary by {1:Metherell et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200}).",[607398],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:15413,Active,Orphanet+OMIM,OMIM:607482,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1m",,,[607482],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15414,Active,Orphanet+OMIM,OMIM:607554,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 3",,"Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({3:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[607554],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15415,Active,Orphanet+OMIM,OMIM:607572,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 2",,See {609888} for a discussion of leprosy susceptibility in general and information on genetic heterogeneity.,[607572],[548],[Leprosy],[6886],,,,, +GARD:15416,Active,Orphanet+OMIM,OMIM:607596,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1a","[pontocerebellar hypoplasia with anterior horn cell disease, pontocerebellar hypoplasia with infantile spinal muscular atrophy, Pch1]","Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in little or no development. Different types were classified based on the clinical picture and the spectrum of pathologic changes. PCH type 1 is characterized by central and peripheral motor dysfunction associated with anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA; see SMA1, {253300}); death usually occurs early.\n\n<Subhead> Genetic Heterogeneity of Pontocerebellar Hypoplasia\n\nAlso see PCH1B ({614678}), caused by mutation in the EXOSC3 gene ({606489}); PCH1C ({616081}), caused by mutation in the EXOSC8 gene ({606019}); PCH1D ({618065}), caused by mutation in the EXOSC9 gene ({606180}); PCH1E ({619303}), caused by mutation in the SLC25A46 gene ({610826}); PCH1F ({619304}), caused by mutation in the EXOSC1 gene ({606493}); PCH2A ({277470}), caused by mutation in the TSEN54 gene ({608755}); PCH2B ({612389}), caused by mutation in the TSEN2 gene ({608753}); PCH2C ({612390}), caused by mutation in the TSEN34 gene ({608754}); PCH2D ({613811}), caused by mutation in the SEPSECS gene ({613009}); PCH3 ({608027}), caused by mutation in the PCLO gene ({604918}); PCH4 ({225753}), caused by mutation in the TSEN54 gene; PCH5 ({610204}), caused by mutation in the TSEN54 gene; PCH6 ({611523}), caused by mutation in the RARS2 gene ({611524}); PCH7 ({614969}), caused by mutation in the TOE1 gene ({613931}); PCH8 ({614961}), caused by mutation in the CHMP1A gene ({164010}); PCH9 ({615809}), caused by mutation in the AMPD2 gene ({102771}); PCH10 ({615803}), caused by mutation in the CLP1 gene ({608757}); PCH11 ({617695}), caused by mutation in the TBC1D23 gene ({617687}); PCH12 ({618266}), caused by mutation in the COASY gene ({609855}); PCH13 ({618606}), caused by mutation in the VPS51 gene ({615738}); PCH14 ({619301}), caused by mutation in the PPIL1 gene ({601301}); PCH15 ({619302}), caused by mutation in the CDC40 gene ({605585}); PCH16 ({619527}), caused by mutation in the MINPP1 gene ({605391}); and PCH17 ({619909}), caused by mutation in the PRDM13 gene ({616741}) on chromosome 6q16.",[607596],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:15417,Active,Orphanet+OMIM,OMIM:607602,Subtype of disorder,[Disease subtype],"Ichthyosis, cyclic, with epidermolytic hyperkeratosis","[Ciehk, epidermolytic ichthyosis, annular]",,[607602],[312],[Autosomal dominant epidermolytic ichthyosis],[1039],,,,, +GARD:15418,Active,Orphanet+OMIM,OMIM:607644,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 3",,"For a general description and a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 ({114580}).",[607644],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:1542,Legacy,GARD,,,,,,,,,,,,Corpus callosum dysgenesis hypopituitarism,TRUE,FALSE,Active +GARD:15420,Active,Orphanet+OMIM,OMIM:607823,Subtype of disorder,[Disease subtype],Hypotrichosis-lymphedema-telangiectasia syndrome,,"Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by {4:Irrthum et al., 2003}).",[607823],[69735],[Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome],[12827],,,,, +GARD:15421,Active,Orphanet+OMIM,OMIM:607829,Subtype of disorder,[Morphological anomaly subtype],Mitral valve prolapse 2,"[myxomatous mitral valve prolapse 2, Mitral valve prolapse, myxomatous 2]","Patients with MVP2 have nonsyndromic MVP of variable severity inherited as an autosomal dominant trait.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 ({157700}).",[607829],[741],[Familial mitral valve prolapse],[3687],,,,, +GARD:15422,Active,Orphanet+OMIM,OMIM:607832,Subtype of disorder,[Disease subtype],"Focal segmental glomerulosclerosis 3, susceptibility to","[Glomerulosclerosis, focal segmental, 3, susceptibility to]","Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) ({3:Meyrier, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[607832],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15423,Active,Orphanet+OMIM,OMIM:607903,Subtype of disorder,[Disease subtype],Hypotrichosis 6,"[monilethrix-like hypotrichosis, Hypotrichosis, localized, autosomal recessive 1, htl, hypotrichosis, localized, autosomal recessive]","Localized autosomal recessive hypotrichosis is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by {5:Schaffer et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Localized Hypotrichosis\n\nLAH2 (HYPT7; {604379}) is caused by mutation in the LIPH gene ({607365}) on chromosome 3q27, and LAH3 (HYPT8; {278150}) is caused by mutation in the LPAR6 (P2RY5) gene ({609239}) on chromosome 13q14.12-q14.2.\n\nSee also hypotrichosis and recurrent skin vesicles ({613102}), which is caused by mutation in the DSC3 gene ({600271}).",[607903],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:15424,Active,Orphanet+OMIM,OMIM:608097,Subtype of disorder,[Clinical subtype],"Periventricular heterotopia with microcephaly, autosomal recessive","[Periventricular nodular heterotopia 2, heterotopia, periventricular, autosomal recessive]",,[608097],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:15425,Active,Orphanet+OMIM,OMIM:608098,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 3,,"For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.",[608098],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:15426,Active,Orphanet+OMIM,OMIM:608194,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 13,,,[608194],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15427,Active,Orphanet+OMIM,OMIM:608217,Subtype of disorder,[Disease subtype],"Seizures, benign familial neonatal, 3","[Convulsions, benign familial neonatal, 3]","For a phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 ({121200}).",[608217],[1949],[Benign familial neonatal epilepsy],[1519],,,,, +GARD:15428,Active,Orphanet+OMIM,OMIM:608328,Subtype of disorder,[Malformation syndrome subtype],Weill-marchesani syndrome 2,"[glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, mesodermal dysmorphodystrophy, congenital, spherophakia-brachymorphia syndrome, Weill-marchesani syndrome, autosomal dominant]","Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities ({3:Faivre et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}.",[608328],[3449],[Weill-Marchesani syndrome],[4936],,,,, +GARD:15429,Active,Orphanet+OMIM,OMIM:608358,Subtype of disorder,[Disease subtype],"Myopathy, myosin storage, autosomal dominant","[Myopathy, hyaline body, autosomal dominant, myopathy with lysis of type i myofibrils]","Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary by {7:Dye et al., 2006}).",[608358],[53698],[Hyaline body myopathy],[7148],,,,, +GARD:1543,Legacy,GARD,,,,,,,,,,,,Corpus callosum dysgenesis X-linked recessive,TRUE,FALSE,Active +GARD:15430,Active,Orphanet+OMIM,OMIM:608389,Subtype of disorder,[Malformation syndrome subtype],Branchiootic syndrome 3,[Bo syndrome 3],,[608389],[52429],[Branchiootic syndrome],[10148],,,,, +GARD:15431,Active,Orphanet+OMIM,OMIM:608393,Subtype of disorder,[Etiological subtype],"Microcephaly 6, primary, autosomal recessive",,,[608393],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15432,Active,Orphanet+OMIM,OMIM:608462,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 8",,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[608462],[388],[Hirschsprung disease],[6660],,,,, +GARD:15434,Active,Orphanet+OMIM,OMIM:608569,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1o","[Cardiomyopathy, dilated, with ventricular tachycardia]",,[608569],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15435,Active,Orphanet+OMIM,OMIM:608629,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 3,,,[608629],[220493],[Joubert syndrome with ocular defect],[10168],,,,, +GARD:15436,Active,Orphanet+OMIM,OMIM:608644,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 3","[Ciliary dyskinesia, primary, 3, with or without situs inversus]","Primary ciliary dyskinesia (PCD; CILD) is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (summary by {1:Afzelius, 1976}; {2:El Zein et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 ({244400}).",[608644],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15437,Active,Orphanet+OMIM,OMIM:608646,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 4",,"For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 ({244400}).",[608646],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15438,Active,Orphanet+OMIM,OMIM:608647,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 5","[Ciliary dyskinesia, primary, 5, without situs inversus]","Primary ciliary dyskinesia-5 (CILD5) is an autosomal recessive disorder characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus (summary by {4:Olbrich et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[608647],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15439,Active,Orphanet+OMIM,OMIM:608656,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 3",,"For a general discussion of hereditary prostate cancer, see {176807}.",[608656],[1331],[Familial prostate cancer],[4520],,,,, +GARD:1544,Active,Orphanet,ORPHA:216694,Disorder,[Morphological anomaly],Congenitally corrected transposition of the great arteries,"[Congenitally corrected transposition of the great vessels, Discordant ventriculoarterial and atrioventricular connections, Double discordance, L-transposition of the great arteries, Levo-transposition of the great arteries, Ventricular inversion, Ventriculoarterial and atrioventricular discordance]","Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.",,,,,,Congenitally corrected transposition of the great arteries,TRUE,FALSE,Active +GARD:15440,Active,Orphanet+OMIM,OMIM:608658,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 4",,"For a general discussion of hereditary prostate cancer, see {176807}.",[608658],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15441,Active,Orphanet+OMIM,OMIM:608716,Subtype of disorder,[Etiological subtype],"Microcephaly 5, primary, autosomal recessive",,"Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by {20:Woods et al., 2005}; {17:Saadi et al., 2009}; {11:Passemard et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 ({251200}).",[608716],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15442,Active,Orphanet+OMIM,OMIM:608796,Subtype of disorder,[Disease subtype],Moyamoya disease 3,,"In moyamoya disease, stenosis of the intracranial portion of the internal carotid artery leads to secondary establishment of intracranial compensatory anastomoses at different levels (leptomeninges, basal ganglia, and transdural) (summary by {1:Sakurai et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350}).",[608796],[2573],[Moyamoya disease],[7064],,,,, +GARD:15443,Active,Orphanet+OMIM,OMIM:608816,Subtype of disorder,[Disease subtype],"Myoclonic epilepsy, juvenile, susceptibility to, 3",,"For general phenotypic information and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}.",[608816],[307],[Juvenile myoclonic epilepsy],[6808],,,,, +GARD:15444,Active,Orphanet+OMIM,OMIM:608890,Subtype of disorder,[Clinical subtype],"Waardenburg syndrome, type 2d","[Waardenburg syndrome, type iid]","Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by {2:Read and Newton, 1997}). WS type 2D is caused by mutation in the SNAI2 gene ({602150}). Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580}).",[608890],[895],[Waardenburg syndrome type 2],[5520],,,,, +GARD:15445,Active,Orphanet+OMIM,OMIM:608930,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 1b, fast-channel",,"Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor (AChR) channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by {4:Sine et al., 2003} and {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[608930],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15446,Active,Orphanet+OMIM,OMIM:608988,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 2",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[608988],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15447,Active,Orphanet+OMIM,OMIM:609039,Subtype of disorder,[Disease subtype],Narcolepsy 3,,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[609039],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15448,Active,Orphanet+OMIM,OMIM:609053,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group i",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[609053],[84],[Fanconi anemia],[6425],,,,, +GARD:15449,Active,Orphanet+OMIM,OMIM:609054,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group j",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[609054],[84],[Fanconi anemia],[6425],,,,, +GARD:15450,Active,Orphanet+OMIM,OMIM:609197,Subtype of disorder,[Disease subtype],Glucocorticoid deficiency 3,,"Familial isolated glucocorticoid deficiency is an adrenocortical failure characterized by very low levels of plasma cortisol despite high levels of plasma adrenocorticotropin (ACTH). Moreover, the adrenal response to ACTH is severely impaired. There is no mineralocorticoid deficiency and the renin-angiotensin system is not affected (summary by {1:Genin et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200}).",[609197],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:15451,Active,Orphanet+OMIM,OMIM:609254,Subtype of disorder,[Disease subtype],Senior-loken syndrome 5,,Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see {256100}) and Leber congenital amaurosis (LCA; see {204000}).,[609254],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15452,Active,Orphanet+OMIM,OMIM:609273,Subtype of disorder,[Disease subtype],Nemaline myopathy 6,,"Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by {4:Sambuughin et al., 2010}).",[609273],[171439],[Childhood-onset nemaline myopathy],[7171],,,,, +GARD:15453,Active,Orphanet+OMIM,OMIM:609284,Subtype of disorder,[Disease subtype],Nemaline myopathy 1,,"Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by {14:Waddell et al., 2010} and {9:Malfatti et al., 2013}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.",[609284],"[171433, 171439]","[Intermediate nemaline myopathy, Childhood-onset nemaline myopathy]","[12823, 7171]",,,,, +GARD:15454,Active,Orphanet+OMIM,OMIM:609285,Subtype of disorder,[Disease subtype],Nemaline myopathy 4,,,[609285],"[171436, 171439]","[Typical nemaline myopathy, Childhood-onset nemaline myopathy]","[12822, 7171]",,,,, +GARD:15455,Active,Orphanet+OMIM,OMIM:609299,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 5",,"For a general discussion of hereditary prostate cancer, see {176807}.",[609299],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15456,Active,Orphanet+OMIM,OMIM:609304,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 3,"[Epileptic encephalopathy, early infantile, 3]","Developmental and epileptic encephalopathy-3 (DEE3) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks to months of life. The prognosis is poor, and affected children either may die within 1 to 2 years after birth or survive in a persistent vegetative state. The EEG pattern often shows a suppression-burst pattern with high-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases; these features are reminiscent of a clinical diagnosis of Ohtahara syndrome. Some patients may have hypsarrhythmia on EEG, consistent with a clinical diagnosis of West syndrome (summary by {2:Molinari et al., 2005}, {1:Molinari et al., 2009}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[609304],"[1935, 1934]","[Early infantile epileptic encephalopathy, Early myoclonic encephalopathy]","[16581, 9255]",,,,, +GARD:15457,Active,Orphanet+OMIM,OMIM:609310,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 2","[coca2, Colon cancer, familial nonpolyposis, type 2]",,[609310],[144],[Lynch syndrome],[9905],,,,, +GARD:15458,Active,Orphanet+OMIM,OMIM:609345,Subtype of disorder,[Malformation syndrome subtype],Cerebrorenodigital syndrome with limb malformations and triradiate acetabula,,"{1:Franceschini et al. (2004)} observed 2 male sibs with features suggestive of Meckel syndrome (see MKS; {249000}), including occipital encephalocele, polycystic kidneys, and polydactyly, but who also had short, incurved distal long bones and triradiate acetabula. The latter feature had not previously been reported in MKS, nor had it been seen with occipital encephalocele. {1:Franceschini et al. (2004)} noted that although short and bowed limbs are seen in about 15% of MKS cases ({2:Majewski et al., 1983}), the severity, bilaterality, and absolute symmetry of lower limb malformations in both sibs and the association with triradiate acetabula suggested a distinct syndrome.",[609345],[564],[Meckel syndrome],[3436],,,,, +GARD:15459,Active,Orphanet+OMIM,OMIM:609384,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, 3c",,"For a general phenotypic description and a discussion of genetic heterogeneity of the CFEOM3 phenotype, see CFEOM3A ({600638}).",[609384],[45358],[Congenital fibrosis of extraocular muscles],[12590],,,,, +GARD:1546,Legacy,GARD,,,,,,,,,,,,Cortada Koussef Matsumoto syndrome,TRUE,FALSE,Active +GARD:15460,Active,Orphanet+OMIM,OMIM:609470,Subtype of disorder,[Disease subtype],Left ventricular noncompaction 2,,"For a phenotypic description and a discussion of genetic heterogeneity of left ventricular noncompaction (LVNC), see {604169}.",[609470],[54260],[Left ventricular noncompaction],[10985],,,,, +GARD:15461,Active,Orphanet+OMIM,OMIM:609508,Subtype of disorder,[Clinical subtype],"Stickler syndrome, type i, nonsyndromic ocular","[Stickler syndrome, type i, predominantly ocular, stickler syndrome, atypical]",,[609508],[90653],[Stickler syndrome type 1],[5018],,,,, +GARD:15462,Active,Orphanet+OMIM,OMIM:609558,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 6",,"For a general discussion of hereditary prostate cancer, see {176807}.",[609558],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15463,Active,Orphanet+OMIM,OMIM:609572,Subtype of disorder,[Disease subtype],Photoparoxysmal response 2,,"For a phenotypic description and a discussion of genetic heterogeneity of photoparoxysmal response, see PPR1 ({132100}).",[609572],[166409],[Photosensitive epilepsy],[5648],,,,, +GARD:15464,Active,Orphanet+OMIM,OMIM:609573,Subtype of disorder,[Disease subtype],Photoparoxysmal response 3,,"For a phenotypic description and a discussion of genetic heterogeneity of the photoparoxysmal response, see PPR1 ({132100}).",[609573],[166409],[Photosensitive epilepsy],[5648],,,,, +GARD:15465,Active,Orphanet+OMIM,OMIM:609583,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 4,,,[609583],[220497],[Joubert syndrome with renal defect],[10169],,,,, +GARD:15466,Active,Orphanet+OMIM,OMIM:609612,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, with synergistic divergence","[Congenital fibrosis syndrome with synergistic divergence, external ophthalmoplegia with synergistic divergence, External ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation, included]",,[609612],[45358],[Congenital fibrosis of extraocular muscles],[12590],,,,, +GARD:15467,Active,Orphanet+OMIM,OMIM:609630,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 1",,"For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[609630],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15469,Active,Orphanet+OMIM,OMIM:609909,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1p",,,[609909],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:1547,Legacy,GARD,,,,,,,,,,,,Cortes Lacassie syndrome,TRUE,FALSE,Active +GARD:15470,Active,Orphanet+OMIM,OMIM:609915,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1q",,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[609915],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15471,Active,Orphanet+OMIM,OMIM:610092,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 3","[Microphthalmia, colobomatous, isolated 3]",,[610092],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15472,Active,Orphanet+OMIM,OMIM:610181,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 2,,,[610181],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:15473,Active,Orphanet+OMIM,OMIM:610185,Subtype of disorder,[Disease subtype],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2",[Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by {3:Gulsuner et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 ({224050}).",[610185],[1766],[Dysequilibrium syndrome],[1998],,,,, +GARD:15474,Active,Orphanet+OMIM,OMIM:610187,Subtype of disorder,[Morphological anomaly subtype],Diaphragmatic hernia 3,,,[610187],[2140],[Congenital diaphragmatic hernia],[1481],,,,, +GARD:15475,Active,Orphanet+OMIM,OMIM:610188,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 5,,,[610188],[2318],[Joubert syndrome with oculorenal defect],[9455],,,,, +GARD:15476,Active,Orphanet+OMIM,OMIM:610189,Subtype of disorder,[Disease subtype],Senior-loken syndrome 6,,,[610189],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15477,Active,Orphanet+OMIM,OMIM:610283,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 10,,,[610283],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15478,Active,Orphanet+OMIM,OMIM:610321,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 7",,"For a general discussion of hereditary prostate cancer, see {176807}.",[610321],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15479,Active,Orphanet+OMIM,OMIM:610329,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 3,,"Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by {2:Vogt et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 ({225750}).",[610329],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:1548,Active,Orphanet,ORPHA:1389,Disorder,[Malformation syndrome],Cortical blindness-intellectual disability-polydactyly syndrome,,"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.",[218010],,,,,Cortical blindness-intellectual disability-polydactyly syndrome,TRUE,FALSE,Active +GARD:15480,Active,Orphanet+OMIM,OMIM:610333,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 4,,,[610333],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:15481,Active,Orphanet+OMIM,OMIM:610353,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 4","[Epilepsy, familial, with nocturnal wandering and ictal fear]","Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by {1:Aridon et al., 2006}). Some patients with CHRNA2 mutations may have a slightly different phenotype that is more consistent with a clinical diagnosis of benign familial infantile seizures (BFIS6) ({3:Trivisano et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal lobe epilepsy, see ENFL1 ({600513}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).",[610353],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:15482,Active,Orphanet+OMIM,OMIM:610374,Subtype of disorder,[Disease subtype],"Diabetes mellitus, transient neonatal, 2",,,[610374],[99886],[Transient neonatal diabetes mellitus],[1839],,,,, +GARD:15483,Active,Orphanet+OMIM,OMIM:610379,Subtype of disorder,[Disease subtype],"West nile virus, susceptibility to","[Wnv, susceptibility to]","WNV is an enveloped, neurotropic, single-stranded sense RNA flavivirus that is naturally maintained in a zoonotic cycle between avian hosts and mosquito vectors. The virus was first isolated from a Ugandan woman in 1937 and subsequently emerged in Europe and, in 1999, in New York, with eventual spread throughout North America. WNV causes a spectrum of disease ranging from acute fever to lethal encephalitis. Susceptibility to WNV is increased in the elderly and in immunocompromised individuals (summary by {4:Diamond and Klein (2006)} and {5:Glass et al. (2005)}).",[610379],[83476],[West-Nile encephalitis],[9959],,,,, +GARD:15484,Active,Orphanet+OMIM,OMIM:610381,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 11,,,[610381],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15485,Active,Orphanet+OMIM,OMIM:610427,Subtype of disorder,[Disease subtype],"Cone-rod synaptic disorder, congenital nonprogressive","[night blindness, congenital stationary, incomplete, autosomal recessive, formerly, Night blindness, congenital stationary, type 2b, formerly]","Congenital nonprogressive cone-rod synaptic disorder is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses ({6:Traboulsi, 2013}; {4:Khan, 2014}).",[610427],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15486,Active,Orphanet+OMIM,OMIM:610430,Subtype of disorder,[Disease subtype],"Macroglobulinemia, waldenstrom, susceptibility to, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of susceptibility to Waldenstrom macroglobulinemia, see {153600}.",[610430],[33226],[Waldenström macroglobulinemia],[7872],,,,, +GARD:15487,Active,Orphanet+OMIM,OMIM:610444,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, autosomal dominant 3","[Night blindness, congenital stationary, nougaret type]",,[610444],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15488,Active,Orphanet+OMIM,OMIM:610445,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, autosomal dominant 1","[Night blindness, congenital stationary, rhodopsin-related]",,[610445],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15489,Active,Orphanet+OMIM,OMIM:610475,Subtype of disorder,[Disease subtype],"Pigmented nodular adrenocortical disease, primary, 2","[cushing syndrome, adrenal, due to ppnad2, Pigmented micronodular adrenocortical disease, primary, 2]",,[610475],[189439],[Primary pigmented nodular adrenocortical disease],[10906],,,,, +GARD:15490,Active,Orphanet+OMIM,OMIM:610582,Subtype of disorder,[Disease subtype],"Diabetes mellitus, transient neonatal, 3",[Tndm3],,[610582],[99886],[Transient neonatal diabetes mellitus],[1839],,,,, +GARD:15492,Active,Orphanet+OMIM,OMIM:610685,Subtype of disorder,[Malformation syndrome subtype],Split-hand/foot malformation with long bone deficiency 2,,"For a general phenotypic description and discussion of genetic heterogeneity of split-hand/foot malformation with long bone deficiency, see SHFLD1 ({119100}).",[610685],[3329],[Tibial aplasia-ectrodactyly syndrome],[1369],,,,, +GARD:15493,Active,Orphanet+OMIM,OMIM:610687,Subtype of disorder,[Disease subtype],Nemaline myopathy 7,,"Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by {2:Ockeloen et al., 2012}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.",[610687],[171436],[Typical nemaline myopathy],[12822],,,,, +GARD:15494,Active,Orphanet+OMIM,OMIM:610688,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 6,,"Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa ({5:Romano et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[610688],[475],[Joubert syndrome],[6802],,,,, +GARD:15495,Active,Orphanet+OMIM,OMIM:610725,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 3","[Nephrotic syndrome, early-onset, type 3]","Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) ({4:Hinkes et al., 2006}).\n\nMost patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen ({2:Gbadegesin et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300}).",[610725],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15496,Active,Orphanet+OMIM,OMIM:610753,Subtype of disorder,[Disease subtype],Alopecia areata 2,,"For a phenotypic description and a discussion of genetic heterogeneity of alopecia areata, see {104000}.",[610753],"[700, 701]","[Alopecia totalis, Alopecia universalis]","[614, 613]",,,,, +GARD:15497,Active,Orphanet+OMIM,OMIM:610756,Subtype of disorder,[Clinical subtype],Cerebrooculofacioskeletal syndrome 2,,,[610756],[1466],[COFS syndrome],[6027],,,,, +GARD:15498,Active,Orphanet+OMIM,OMIM:610758,Subtype of disorder,[Clinical subtype],Cerebrooculofacioskeletal syndrome 4,,"Cerebrooculofacioskeletal syndrome-4 is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by {1:Jaspers et al., 2007} and {2:Kashiyama et al., 2013}).\n\nFor a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see {214150}.",[610758],[1466],[COFS syndrome],[6027],,,,, +GARD:15499,Active,Orphanet+OMIM,OMIM:610759,Subtype of disorder,[Malformation syndrome subtype],Cornelia de lange syndrome 3 with or without midline brain defects,,"Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and impaired intellectual development, hypertrichosis, and sometimes distal limb malformations (summary by {3:Gil-Rodriguez et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.",[610759],[199],[Cornelia de Lange syndrome],[10109],,,,, +GARD:155,Active,Orphanet,ORPHA:2378,Disorder,[Malformation syndrome],Laurin-Sandrow syndrome,"[Mirror hands and feets-nasal defects syndrome, Sandrow syndrome]","Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.",[135750],,,,,Laurin-Sandrow syndrome,TRUE,FALSE,Active +GARD:1550,Active,Orphanet,ORPHA:3071,Disorder,[Malformation syndrome],Costello syndrome,"[FCS syndrome, Faciocutaneoskeletal syndrome]","A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway.",[218040],,,,,Costello syndrome,TRUE,FALSE,Active +GARD:15500,Active,Orphanet+OMIM,OMIM:610832,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group n",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[610832],[84],[Fanconi anemia],[6425],,,,, +GARD:15501,Active,Orphanet+OMIM,OMIM:610840,Subtype of disorder,[Morphological anomaly subtype],Mitral valve prolapse 3,"[Mitral valve prolapse, myxomatous 3, myxomatous mitral valve prolapse 3]","Patients with mitral valve prolapse-3 (MVP3) have nonsyndromic MVP of variable severity with an autosomal dominant pattern of inheritance.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 ({157700}).",[610840],[741],[Familial mitral valve prolapse],[3687],,,,, +GARD:15502,Active,Orphanet+OMIM,OMIM:610852,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 6",,,[610852],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15503,Active,Orphanet+OMIM,OMIM:610896,Subtype of disorder,[Malformation syndrome subtype],Branchiootorenal syndrome 2,,,[610896],[107],[BOR syndrome],[10147],,,,, +GARD:15504,Active,Orphanet+OMIM,OMIM:610988,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 4",,,[610988],[548],[Leprosy],[6886],,,,, +GARD:15505,Active,Orphanet+OMIM,OMIM:610997,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 9",,,[610997],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15506,Active,Orphanet+OMIM,OMIM:611031,Subtype of disorder,[Disease subtype],Episodic kinesigenic dyskinesia 2,,"For a general phenotypic description and a discussion of genetic heterogeneity of episodic kinesigenic dyskinesia (EKD), also referred to as paroxysmal kinesigenic choreoathetosis (PKC), see EKD1 ({128200}).",[611031],[98809],[Paroxysmal kinesigenic dyskinesia],[8721],,,,, +GARD:15507,Active,Orphanet+OMIM,OMIM:611100,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 10",,"For a general discussion of hereditary prostate cancer, see {176807}.",[611100],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15508,Active,Orphanet+OMIM,OMIM:611131,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 37,,,[611131],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15509,Active,Orphanet+OMIM,OMIM:611134,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 4","[Meckel-gruber syndrome, type 4]","Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by {1:Baala et al., 2007}).\n\nFor a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 ({249000}).",[611134],[564],[Meckel syndrome],[3436],,,,, +GARD:1551,Active,Orphanet,ORPHA:2391,Disorder,[Malformation syndrome],Congenitally short costocoracoid ligament,,"A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989.",[122580],,,,,Costocoracoid ligament congenitally short,TRUE,FALSE,Active +GARD:15510,Active,Orphanet+OMIM,OMIM:611147,Subtype of disorder,[Disease subtype],Paroxysmal nonkinesigenic dyskinesia 2,,"For a general phenotypic description of paroxysmal nonkinesigenic dyskinesia, see PNKD1 ({118800}).",[611147],[98810],[Paroxysmal non-kinesigenic dyskinesia],[8722],,,,, +GARD:15511,Active,Orphanet+OMIM,OMIM:611263,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 2 with or without polydactyly,[Asphyxiating thoracic dystrophy 2],"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {4:Huber and Cormier-Daire, 2012} and {5:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[611263],[474],[Jeune syndrome],[3049],,,,, +GARD:15512,Active,Orphanet+OMIM,OMIM:611363,Subtype of disorder,[Clinical subtype],Atrial septal defect 4,,,[611363],[99103],"[Atrial septal defect, ostium secundum type]",[5865],,,,, +GARD:15513,Active,Orphanet+OMIM,OMIM:611364,Subtype of disorder,[Disease subtype],"Myoclonic epilepsy, juvenile, susceptibility to, 4",,"For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy (JME), see {254770}. JME is a form of idiopathic generalized epilepsy (IGE; {600669}).",[611364],[307],[Juvenile myoclonic epilepsy],[6808],,,,, +GARD:15514,Active,Orphanet+OMIM,OMIM:611383,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iid",,"Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes ({4:Eudy et al., 1998}).\n\nSee {276900} for clinical characterization of Usher syndrome types I, II, and III.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A ({276901}).",[611383],[231178],[Usher syndrome type 2],[5440],,,,, +GARD:15515,Active,Orphanet+OMIM,OMIM:611407,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1w",,,[611407],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15516,Active,Orphanet+OMIM,OMIM:611493,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 4",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[611493],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15517,Active,Orphanet+OMIM,OMIM:611494,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 5",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({2:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[611494],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15518,Active,Orphanet+OMIM,OMIM:611554,Subtype of disorder,[Malformation syndrome subtype],Leopard syndrome 2,,,[611554],[500],[Noonan syndrome with multiple lentigines],[1100],,,,, +GARD:15519,Active,Orphanet+OMIM,OMIM:611560,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 7,,,[611560],[220497],[Joubert syndrome with renal defect],[10169],,,,, +GARD:15520,Active,Orphanet+OMIM,OMIM:611561,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 5",,,[611561],[564],[Meckel syndrome],[3436],,,,, +GARD:15521,Active,Orphanet+OMIM,OMIM:611584,Subtype of disorder,[Clinical subtype],"Waardenburg syndrome, type 2e","[waardenburg syndrome, type 2e, with or without neurologic involvement, Hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation, waardenburg syndrome, type iie, ws2e, with or without neurologic involvement]","Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by {9:Read and Newton, 1997}). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene ({602229}), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580}).",[611584],[895],[Waardenburg syndrome type 2],[5520],,,,, +GARD:15522,Active,Orphanet+OMIM,OMIM:611615,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1x","[Cardiomyopathy, dilated, with mild or no proximal muscle weakness]",,[611615],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15523,Active,Orphanet+OMIM,OMIM:611631,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see {600512}.",[611631],[98819],[Familial temporal lobe epilepsy],[5135],,,,, +GARD:15524,Active,Orphanet+OMIM,OMIM:611638,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 5",,,[611638],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15525,Active,Orphanet+OMIM,OMIM:611644,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 9",,"The disorder described by {5:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.",[611644],[388],[Hirschsprung disease],[6660],,,,, +GARD:15526,Active,Orphanet+OMIM,OMIM:611777,Subtype of disorder,[Disease subtype],Brugada syndrome 2,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[611777],[130],[Brugada syndrome],[1030],,,,, +GARD:15527,Active,Orphanet+OMIM,OMIM:611788,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 6",[Familial thoracic aortic aneurysm with livedo reticularis and iris flocculi],,[611788],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:15528,Active,Orphanet+OMIM,OMIM:611804,Subtype of disorder,[Disease subtype],Elliptocytosis 1,"[4.1-minus trait, Elliptocytosis, rhesus-linked type, 4.1- trait, protein 4.1 of erythrocyte membrane, defect of]","Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Usually inherited as an autosomal dominant trait, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton (summary by {24:McGuire et al., 1988}).\n\n<Subhead> Genetic Heterogeneity of Elliptocytosis\n\nElliptocytosis-2 ({130600}) is caused by mutation in the SPTA1 gene ({182860}). Elliptocytosis-3 ({617948}) is caused by mutation in the SPTB gene ({182870}). Elliptocytosis-4 ({166900}), also known as Southeast Asian ovalocytosis, is caused by mutation in the SLC4A1 gene ({109270}). Also see pyropoikilocytosis ({266140}).\n\nSee {11:Delaunay (2007)} for a discussion of the molecular basis of hereditary red cell membrane disorders.",[611804],[288],[Hereditary elliptocytosis],[6621],,,,, +GARD:15529,Active,Orphanet+OMIM,OMIM:611868,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 12",,,[611868],[1331],[Familial prostate cancer],[4520],,,,, +GARD:1553,Legacy,GARD,,,,,,,,,,,,Arthrogryposis and ectodermal dysplasia,TRUE,FALSE,Active +GARD:15530,Active,Orphanet+OMIM,OMIM:611878,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1y",,"Dilated cardiomyopathy-1Y (CMD1Y) is characterized by severe progressive cardiac failure, resulting in death in the third to sixth decades of life in some patients. Electron microscopy shows an abnormal sarcomere structure ({3:Olson et al., 2001}).\n\nIn left ventricular noncompaction-9 (LVNC9), patients may present with cardiac failure or may be asymptomatic. Echocardiography shows noncompaction of the apex and midventricular wall of the left ventricle ({4:Probst et al., 2011}). Some patients also exhibit Ebstein anomaly of the tricuspid valve ({1:Kelle et al., 2016}) and some have mitral valve insufficiency ({2:Nijak et al., 2018}).",[611878],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15531,Active,Orphanet+OMIM,OMIM:611879,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1z",,,[611879],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15532,Active,Orphanet+OMIM,OMIM:611880,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 2a","[cardiomyopathy, congestive, autosomal recessive, Cardiomyopathy, dilated, autosomal recessive]",,[611880],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15533,Active,Orphanet+OMIM,OMIM:611884,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 7","[Ciliary dyskinesia, primary, 7, with or without situs inversus]","Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus ({1:Afzelius, 1976}; {3:El Zein et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 ({244400}).",[611884],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15534,Active,Orphanet+OMIM,OMIM:611928,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 13",,,[611928],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15535,Active,Orphanet+OMIM,OMIM:611938,Subtype of disorder,[Disease subtype],"Ventricular tachycardia, catecholaminergic polymorphic, 2","[Ventricular tachycardia, stress-induced polymorphic]",,[611938],[3286],[Catecholaminergic polymorphic ventricular tachycardia],[4421],,,,, +GARD:15536,Active,Orphanet+OMIM,OMIM:611955,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 11",,"For a general discussion of hereditary prostate cancer, see {176807}.",[611955],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15537,Active,Orphanet+OMIM,OMIM:611958,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 14",,"For a general discussion of hereditary prostate cancer, see {176807}.",[611958],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15538,Active,Orphanet+OMIM,OMIM:611959,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 15",,"For a general discussion of hereditary prostate cancer, see {176807}.",[611959],[1331],[Familial prostate cancer],[4520],,,,, +GARD:15539,Active,Orphanet+OMIM,OMIM:612016,Subtype of disorder,[Disease subtype],"Coenzyme q10 deficiency, primary, 4","[Spinocerebellar ataxia, autosomal recessive 9]","Primary coenzyme Q10 deficiency-4 (COQ10D4) is an autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Some affected individuals develop seizures and have mild mental impairment, indicating variable severity. Oral coenzyme Q10 supplementation does not result in significant improvement of neurologic symptoms (summary by {4:Mollet et al., 2008} and {2:Lagier-Tourenne et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 ({607426}).",[612016],[139485],[Autosomal recessive ataxia due to ubiquinone deficiency],[10294],,,,, +GARD:1554,Legacy,GARD,,,,,,,,,,,,Cote Katsantoni syndrome,TRUE,FALSE,Active +GARD:15540,Active,Orphanet+OMIM,OMIM:612069,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia,,,[612069],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,,,, +GARD:15541,Active,Orphanet+OMIM,OMIM:612076,Subtype of disorder,[Malformation syndrome subtype],"Hypouricemia, renal, 2",,"Renal hypouricemia is a common inherited disorder characterized by impaired renal urate reabsorption and subsequent low serum urate levels. It may be associated with severe complications such as exercise-induced acute renal failure (EIARF) and nephrolithiasis (summary by {7:Matsuo et al., 2008}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of renal hypouricemia, see RHUC1 ({220150}).",[612076],[94088],[Hereditary renal hypouricemia],[9496],,,,, +GARD:15542,Active,Orphanet+OMIM,OMIM:612132,Subtype of disorder,[Disease subtype],Ectodermal dysplasia and immunodeficiency 2,"[ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant, ectodermal dysplasia, hypohidrotic, with immunodeficiency 2, Ectodermal dysplasia, anhidrotic, with immunodeficiency 2]","EDAID2 is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by {1:Boisson et al., 2017}).\n\nMutations in the NFKBIA gene result in functional impairment of NFKB (see {164011}), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection ({8:McDonald et al., 2007}).\n\nFor discussion of genetic heterogeneity of ectodermal dysplasia and immune deficiency, see {300291}.",[612132],[98813],[Hypohidrotic ectodermal dysplasia with immunodeficiency],[9936],,,,, +GARD:15543,Active,Orphanet+OMIM,OMIM:612158,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction",,,[612158],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15544,Active,Orphanet+OMIM,OMIM:612201,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 6",,"Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({2:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[612201],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15545,Active,Orphanet+OMIM,OMIM:612240,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 7",,"Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[612240],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15546,Active,Orphanet+OMIM,OMIM:612274,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 8",,"For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 ({244400}).",[612274],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15547,Active,Orphanet+OMIM,OMIM:612281,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 6","[Ichthyosis, congenital, autosomal recessive, nipal4-related]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({8:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[612281],"[79394, 313]","[Lamellar ichthyosis, Congenital non-bullous ichthyosiform erythroderma]","[10803, 9736]",,,,, +GARD:15548,Active,Orphanet+OMIM,OMIM:612284,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 6",,,[612284],[564],[Meckel syndrome],[3436],,,,, +GARD:15549,Active,Orphanet+OMIM,OMIM:612285,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 9,,"Joubert syndrome-9 (JBTS9) is an autosomal recessive disorder characterized by hypotonia, ataxia, developmental delay, abnormal eye movements, and abnormal respiratory control. Variable features include retinal dystrophy, kidney disease, and seizures. Brain imaging shows cerebellar vermis hypoplasia and the 'molar tooth sign.' Brain imaging may also show ventriculomegaly ({1:Bachmann-Gagescu et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBST1 ({213300}).",[612285],[2318],[Joubert syndrome with oculorenal defect],[9455],,,,, +GARD:1555,Active,Orphanet,ORPHA:93333,Disorder,[Malformation syndrome],Pelviscapular dysplasia,"[Cousin syndrome, Familial pelvis-scapular dysplasia]","Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.",[260660],,,,,Cousin syndrome,TRUE,FALSE,Active +GARD:15550,Active,Orphanet+OMIM,OMIM:612291,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 8,,,[612291],[475],[Joubert syndrome],[6802],,,,, +GARD:15551,Active,Orphanet+OMIM,OMIM:612293,Subtype of disorder,[Disease subtype],"Porokeratosis 5, disseminated superficial actinic type",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({2:Schamroth et al., 1997}). However, as noted by {3:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[612293],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:15552,Active,Orphanet+OMIM,OMIM:612353,Subtype of disorder,[Disease subtype],"Porokeratosis 6, multiple types",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({1:Schamroth et al., 1997}). However, as noted by {2:Sybert (2010)}, reports of several families with expression of more than one variant of porokeratosis among members, and of individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).",[612353],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:15553,Active,Orphanet+OMIM,OMIM:612389,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2b",,"Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}).",[612389],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:15554,Active,Orphanet+OMIM,OMIM:612390,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2c",,"Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}).",[612390],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:15555,Active,Orphanet+OMIM,OMIM:612417,Subtype of disorder,[Disease subtype],"Narcolepsy 4, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[612417],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15556,Active,Orphanet+OMIM,OMIM:612437,Subtype of disorder,[Malformation syndrome subtype],"Epilepsy, progressive myoclonic, 1b",,,[612437],[308],[Progressive myoclonic epilepsy type 1],[3876],,,,, +GARD:15557,Active,Orphanet+OMIM,OMIM:612438,Subtype of disorder,[Disease subtype],"Leukodystrophy, hypomyelinating, 6","[Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum]","Hypomyelinating leukodystrophy-6, also known as hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum, is a neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen. The disorder usually shows sporadic occurrence, but sibs may be affected if a parent is somatic mosaic for the mutation (summary by {8:Simons et al., 2013}).\n\nHypomyelinating leukodystrophies (HLD) comprise a genetically heterogeneous entity in which there is a substantial permanent deficit in myelin deposition within the brain, resulting in neurologic deficits ({10:van der Knaap et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.",[612438],[139441],[Hypomyelination with atrophy of basal ganglia and cerebellum],[10917],,,,, +GARD:15558,Active,Orphanet+OMIM,OMIM:612444,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 9","[Ciliary dyskinesia, primary, 9, with or without situs inversus]","Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus ({1:Afzelius, 1976}; {2:El Zein et al., 2003}).\n\nFor a general description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 ({244400}).",[612444],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15559,Active,Orphanet+OMIM,OMIM:612469,Subtype of disorder,[Malformation syndrome subtype],"Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome",,"For a detailed discussion of the WAGR syndrome, see {194072}. In a subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is associated with haploinsufficiency for the BDNF gene.",[612469],[893],[WAGR syndrome],[5528],,,,, +GARD:15560,Active,Orphanet+OMIM,OMIM:612518,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 10","[Ciliary dyskinesia, primary, 10, with or without situs inversus]",,[612518],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15561,Active,Orphanet+OMIM,OMIM:612527,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 4,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612527],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15562,Active,Orphanet+OMIM,OMIM:612528,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 5,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {2:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612528],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15563,Active,Orphanet+OMIM,OMIM:612529,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia2","[Amelogenesis imperfecta, pigmented hypomaturation type, 2]","Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({6:Witkop, 1988}).",[612529],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:15564,Active,Orphanet+OMIM,OMIM:612551,Subtype of disorder,[Disease subtype],"Focal segmental glomerulosclerosis 4, susceptibility to","[End-stage renal disease, nondiabetic, susceptibility to, included]","Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) ({4:Meyrier, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[612551],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15565,Active,Orphanet+OMIM,OMIM:612557,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 3",,"For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[612557],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15566,Active,Orphanet+OMIM,OMIM:612558,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 4",,"For a phenotypic description and discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[612558],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15567,Active,Orphanet+OMIM,OMIM:612559,Subtype of disorder,[Disease subtype],"Leukemia, chronic lymphocytic, susceptibility to, 5",,"For a phenotypic description and discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}.",[612559],[67038],[B-cell chronic lymphocytic leukemia],[6104],,,,, +GARD:15568,Active,Orphanet+OMIM,OMIM:612561,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 6,[Aase-smith syndrome ii],"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {7:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612561],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15569,Active,Orphanet+OMIM,OMIM:612562,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 7,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {3:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612562],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15570,Active,Orphanet+OMIM,OMIM:612563,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 8,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[612563],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15571,Active,Orphanet+OMIM,OMIM:612572,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 46,"[Retinitis pigmentosa, autosomal recessive, idh3b-related]","Retinitis pigmentosa-46 (RP46) is characterized by night blindness, loss of peripheral vision, and reduced visual acuity. Funduscopic findings are typical of RP, including pale optic discs, attenuated retinal vessels, and intraretinal pigment deposits. Electroretinography shows substantial loss of rod and cone photoreceptor function ({1:Hartong et al., 2008}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[612572],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15572,Active,Orphanet+OMIM,OMIM:612576,Subtype of disorder,[Malformation syndrome subtype],"Chromosome 17p13.3, telomeric, duplication syndrome",,,[612576],[3329],[Tibial aplasia-ectrodactyly syndrome],[1369],,,,, +GARD:15573,Active,Orphanet+OMIM,OMIM:612632,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ih",,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({2:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900}).",[612632],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:15574,Active,Orphanet+OMIM,OMIM:612649,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 11","[Ciliary dyskinesia, primary, 11, without situs inversus]",,[612649],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15575,Active,Orphanet+OMIM,OMIM:612650,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 12","[Ciliary dyskinesia, primary, 12, without situs inversus]",,[612650],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15576,Active,Orphanet+OMIM,OMIM:612653,Subtype of disorder,[Disease subtype],"Spherocytosis, type 4","[Spherocytosis, hereditary, 4]",,[612653],[822],[Hereditary spherocytosis],[6639],,,,, +GARD:15577,Active,Orphanet+OMIM,OMIM:612657,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 12,,,[612657],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15578,Active,Orphanet+OMIM,OMIM:612690,Subtype of disorder,[Disease subtype],"Spherocytosis, type 5","[Spherocytosis, hereditary, 5]",,[612690],[822],[Hereditary spherocytosis],[6639],,,,, +GARD:15579,Active,Orphanet+OMIM,OMIM:612692,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 6, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to cd79b defect]",,[612692],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:1558,Active,Orphanet,ORPHA:1508,Disorder,[Malformation syndrome],Coxoauricular syndrome,,"Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.",[122780],,,,,Coxoauricular syndrome,TRUE,FALSE,Active +GARD:15580,Active,Orphanet+OMIM,OMIM:612703,Subtype of disorder,[Etiological subtype],"Microcephaly 7, primary, autosomal recessive",,,[612703],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15581,Active,Orphanet+OMIM,OMIM:612715,Subtype of disorder,[Disease subtype],Dyschromatosis universalis hereditaria 2,,"Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by {3:Zhang et al., 2013}).\n\nFor a discussion of genetic heterogeneity of dyschromatosis universalis hereditaria, see DUH1 ({127500}).",[612715],[241],[Dyschromatosis universalis hereditaria],[1996],,,,, +GARD:15582,Active,Orphanet+OMIM,OMIM:612775,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 9,,,[612775],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15583,Active,Orphanet+OMIM,OMIM:612798,Subtype of disorder,[Malformation syndrome subtype],"Question mark ears, isolated","[auricular cleft, congenital, Ears, prominent and constricted, cosman deformity of the auricle]","Question mark ear is an auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. It is more prevalent among boys than girls (2:1), usually sporadic, and can be unilateral or bilateral ({7:Shkalim et al., 2008}).",[612798],[137888],[Auriculocondylar syndrome],[9798],,,,, +GARD:15584,Active,Orphanet+OMIM,OMIM:612838,Subtype of disorder,[Disease subtype],Brugada syndrome 5,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[612838],[130],[Brugada syndrome],[1030],,,,, +GARD:15585,Active,Orphanet+OMIM,OMIM:612841,Subtype of disorder,[Disease subtype],Hypotrichosis 5,[Marie unna hereditary hypotrichosis 2],"Hypotrichosis-5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), is a form of hereditary hypotrichosis characterized by twisting hair. Affected individuals have little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal (summary by {3:Zhang et al., 2012}).\n\nFor a general phenotypic description of Marie Unna hereditary hypotrichosis, see MUHH1 ({146550}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.",[612841],[444],[Marie Unna hereditary hypotrichosis],[3390],,,,, +GARD:15586,Active,Orphanet+OMIM,OMIM:612843,Subtype of disorder,[Disease subtype],"Keratosis follicularis spinulosa decalvans, autosomal dominant",,"Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis characterized by follicular hyperkeratosis, progressive cicatricial alopecia, and photophobia. Most reported cases show X-linked inheritance (KFSDX; {308800}) ({2:Castori et al., 2009}).",[612843],[2340],[Keratosis follicularis spinulosa decalvans],[6829],,,,, +GARD:15587,Active,Orphanet+OMIM,OMIM:612851,Subtype of disorder,[Disease subtype],"Narcolepsy 5, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[612851],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15588,Active,Orphanet+OMIM,OMIM:612877,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1bb",,"Dilated cardiomyopathy-1BB (CMD1BB) is a life-threatening, intractable disease characterized by ventricular dilation and thinning ({2:Shiba et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200}).",[612877],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15589,Active,Orphanet+OMIM,OMIM:612881,Subtype of disorder,[Clinical subtype],"Chromosome 5q14.3 deletion syndrome, distal",,,[612881],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:15590,Active,Orphanet+OMIM,OMIM:612908,Subtype of disorder,[Disease subtype],Keratosis palmoplantaris striata ii,"[striate palmoplantar keratoderma ii, Keratoderma, palmoplantar, striate form ii]","PPKS2 is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor. Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be present. ({1:Armstrong et al., 1999}; {3:Whittock et al., 1999}).\n\nFor a discussion of genetic heterogeneity of the striate form of palmoplantar keratoderma, see PPKS1 ({148700}).",[612908],[50942],[Striate palmoplantar keratoderma],[15016],,,,, +GARD:15591,Active,Orphanet+OMIM,OMIM:612921,Subtype of disorder,[Malformation syndrome subtype],Three m syndrome 2,[3m syndrome 2],"3M syndrome-2 (3M2) is characterized by low birth weight and short stature, relative macrocephaly, lumbar hyperlordosis, and prominent heels. Dysmorphic facial features include triangular face with frontal bossing and midface hypoplasia, anteverted nares with fleshy nasal tip, and full fleshy lips ({3:Hanson et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 ({273750}).",[612921],[2616],[3M syndrome],[5667],,,,, +GARD:15592,Active,Orphanet+OMIM,OMIM:612936,Subtype of disorder,[Disease subtype],"Spastic paraplegia 50, autosomal recessive","[Cerebral palsy, spastic quadriplegic, 3, formerly]","Spastic paraplegia-50 (SPG50) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severely impaired intellectual development with poor or absent speech development (summary by {3:Verkerk et al., 2009}).",[612936],[280763],[Severe intellectual disability and progressive spastic paraplegia],[10999],,,,, +GARD:15593,Active,Orphanet+OMIM,OMIM:612943,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 42,,,[612943],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15595,Active,Orphanet+OMIM,OMIM:612955,Subtype of disorder,[Disease subtype],Long qt syndrome 12,,"Congenital long QT syndrome (LQTS) is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({1:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[612955],[101016],[Romano-Ward syndrome],[3284],,,,, +GARD:15596,Active,Orphanet+OMIM,OMIM:612956,Subtype of disorder,[Disease subtype],"Ventricular fibrillation, paroxysmal familial, 2",,,[612956],[228140],"[Idiopathic ventricular fibrillation, non Brugada type]",[4227],,,,, +GARD:15597,Active,Orphanet+OMIM,OMIM:612961,Subtype of disorder,[Malformation syndrome subtype],Multiple synostoses syndrome 3,,,[612961],[3237],[Multiple synostoses syndrome],[3836],,,,, +GARD:15598,Active,Orphanet+OMIM,OMIM:612965,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 3","[disorder of sex development, 46,xy, nr5a1-related, 46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure, sex reversal, xy, with or without adrenal failure, 46,xy sex reversal, partial or complete, nr5a1-related]",,[612965],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,,,, +GARD:15599,Active,Orphanet+OMIM,OMIM:612968,Subtype of disorder,[Morphological anomaly subtype],"Cataract 34, multiple types","[Cataract 34, multiple types, with or without microcornea, cataract, autosomal recessive congenital 3]","Mutations in the FOXE3 gene have been found to cause multiple types of cataract, which have been described as membranous and posterior subcapsular.",[612968],[708],[Peters anomaly],[7377],,,,, +GARD:156,Active,Orphanet,ORPHA:588,Disorder,[Malformation syndrome],Muscle-eye-brain disease,"[MEB syndrome, Muscle-eye-brain syndrome, Santavuori congenital muscular dystrophy]","A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.","[613153, 613150, 613154, 615350, 253800, 615181, 236670, 253280]",,,,,Muscle eye brain disease,TRUE,FALSE,Active +GARD:15600,Active,Orphanet+OMIM,OMIM:613002,Subtype of disorder,[Disease subtype],"Immunodeficiency 83, susceptibility to viral infections",,"Immunodeficiency-83 (IMD83) is characterized by increased susceptibility to severe viral infections, including herpes simplex virus (HSV), varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and possibly respiratory syncytial virus (RSV). The age at onset varies widely from infancy to adults, and there is incomplete penetrance. The susceptibility to encephalitis or pneumonitis appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the central nervous system (CNS) or lung epithelial cells (review by {8:Zhang et al., 2013}; summary by {5:Mork et al., 2015}; {7:Sironi et al., 2017}, {3:Lim et al., 2019}, {6:Partanen et al., 2020}).\n\nFor a general phenotypic description of herpes simplex encephalitis and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see {610551}.",[613002],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:15601,Active,Orphanet+OMIM,OMIM:613007,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 2",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {2:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720}).",[613007],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15602,Active,Orphanet+OMIM,OMIM:613008,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 3",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {2:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720}).",[613008],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15603,Active,Orphanet+OMIM,OMIM:613013,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 2",,,[613013],[635],[Neuroblastoma],[7185],,,,, +GARD:15604,Active,Orphanet+OMIM,OMIM:613014,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 3",,,[613014],[635],[Neuroblastoma],[7185],,,,, +GARD:15605,Active,Orphanet+OMIM,OMIM:613015,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700}).",[613015],[635],[Neuroblastoma],[7185],,,,, +GARD:15606,Active,Orphanet+OMIM,OMIM:613016,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 5",,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700}).",[613016],[635],[Neuroblastoma],[7185],,,,, +GARD:15607,Active,Orphanet+OMIM,OMIM:613017,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 6",,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700}).",[613017],[635],[Neuroblastoma],[7185],,,,, +GARD:15608,Active,Orphanet+OMIM,OMIM:613024,Subtype of disorder,[Disease subtype],"Follicular lymphoma, susceptibility to, 1",,"Follicular non-Hodgkin lymphoma is an indolent B-cell malignancy with an annual incidence exceeding 10,000 cases in the United States ({2:Bohen et al., 2003}). One form of susceptibility to follicular lymphoma (FL1) is associated with a region on chromosome 6p21.33.",[613024],[545],[Follicular lymphoma],[2356],,,,, +GARD:15609,Active,Orphanet+OMIM,OMIM:613055,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 8",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({2:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[613055],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:1561,Active,Orphanet,ORPHA:202,Disorder,[Disease],Crandall syndrome,"[Alopecia-deafness-hypogonadism syndrome, Alopecia-hearing loss-hypogonadism syndrome, Alopecia-sensorineural deafness-hypogonadism syndrome, Alopecia-sensorineural hearing loss-hypogonadism syndrome]","Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad's syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.",,,,,,Crandall syndrome,TRUE,FALSE,Active +GARD:15610,Active,Orphanet+OMIM,OMIM:613073,Subtype of disorder,[Disease subtype],Metaphyseal anadysplasia 2,,,[613073],[1040],[Metaphyseal anadysplasia],[3562],,,,, +GARD:15611,Active,Orphanet+OMIM,OMIM:613080,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 5","[46,xy gonadal dysgenesis, complete, cbx2-related, 46,xy sex reversal, cbx2-related, disorder of sex development, 46,xy, cbx2-related, sex reversal, xy, cbx2-related]",,[613080],[242],"[46,XY complete gonadal dysgenesis]",[5068],,,,, +GARD:15612,Active,Orphanet+OMIM,OMIM:613090,Subtype of disorder,[Clinical subtype],"Bartter syndrome, type 4b, neonatal, with sensorineural deafness",,"Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed ({4:Simon et al., 1997}).\n\nPatients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by {5:Simon et al., 1996} and {1:Fremont and Chan, 2012}).\n\nFor a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.",[613090],[89938],[Bartter syndrome type 4],[10508],,,,, +GARD:15613,Active,Orphanet+OMIM,OMIM:613091,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 3 with or without polydactyly,"[short rib-polydactyly syndrome, type i, saldino-noonan syndrome, polydactyly with neonatal chondrodystrophy, type i, short rib-polydactyly syndrome, type iii, verma-naumoff syndrome, polydactyly with neonatal chondrodystrophy, type iii, short rib-polydactyly syndrome, type iib, Asphyxiating thoracic dystrophy 3]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {7:Huber and Cormier-Daire, 2012} and {21:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[613091],"[93271, 93269, 474]","[Short rib-polydactyly syndrome, Majewski type, Short rib-polydactyly syndrome, Verma-Naumoff type, Jeune syndrome]","[4833, 3049, 4835]",,,,, +GARD:15614,Active,Orphanet+OMIM,OMIM:613101,Subtype of disorder,[Disease subtype],"Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease",,"Familial hemophagocytic lymphohistiocytosis-5 with or without microvillus inclusion disease (FHL5) is an autosomal recessive hyperinflammatory disorder characterized clinically by fever, hepatosplenomegaly, pancytopenia, coagulation abnormalities, and other laboratory findings. Some patients have neurologic symptoms due to inflammatory CNS disease. There is uncontrolled and ineffective proliferation and activation of T lymphocytes, NK cells, and macrophages that infiltrate multiple organs, including liver, spleen, lymph nodes, and the CNS. The phenotype is variable: some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease (see MVID, {251850}). The enteropathy, which often necessitates parenteral feeding, may be the most life-threatening issue even after hematopoietic stem cell transplantation (HSCT). More variable features include sensorineural hearing loss and hypogammaglobulinemia. Treatment with immunosuppressive drugs and chemotherapy can ameliorate signs and symptoms of FHL in some patients, but the only curative therapy for FHL is HSCT. HSCT is not curative for enteropathy associated with the disorder, despite hematologic and immunologic reconstitution (summary by {7:Meeths et al., 2010}; {8:Pagel et al., 2012}; {10:Stepensky et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL, HLH), see {267700}.",[613101],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,,,, +GARD:15615,Active,Orphanet+OMIM,OMIM:613105,Subtype of disorder,[Disease subtype],"Choroidal dystrophy, central areolar 2","[Macular dystrophy, progressive]","Central areolar choroidal dystrophy-2 (CACD2) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by {2:Boon et al., 2009}).\n\nFor a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 ({215500}).",[613105],[75377],[Central areolar choroidal dystrophy],[10049],,,,, +GARD:15616,Active,Orphanet+OMIM,OMIM:613107,Subtype of disorder,[Disease subtype],"Neutropenia, severe congenital, 2, autosomal dominant",,,[613107],[486],[Autosomal dominant severe congenital neutropenia],[9558],,,,, +GARD:15617,Active,Orphanet+OMIM,OMIM:613108,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 4","[Candidiasis, familial chronic mucocutaneous]",,[613108],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15618,Active,Orphanet+OMIM,OMIM:613115,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory and autonomic, type iib",,"Hereditary sensory and autonomic neuropathy type IIB (HSAN2B) is an autosomal recessive neurologic disorder characterized by early childhood onset of distal sensory impairment usually resulting in ulceration and associated with variable autonomic features, such as hyperhidrosis and urinary incontinence. Some patients may show impaired gait (summary by {1:Ilgaz Aydinlar et al., 2014}).\n\nHSAN2A ({201300}) is caused by mutation in the HSN2 isoform of the WNK1 gene (WNK1/HSN2; see {605232}). For a discussion of genetic heterogeneity of HSAN, see HSAN1 ({162400}).",[613115],[970],[Hereditary sensory and autonomic neuropathy type 2],[3976],,,,, +GARD:15619,Active,Orphanet+OMIM,OMIM:613119,Subtype of disorder,[Disease subtype],Brugada syndrome 6,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[613119],[130],[Brugada syndrome],[1030],,,,, +GARD:15620,Active,Orphanet+OMIM,OMIM:613120,Subtype of disorder,[Disease subtype],Brugada syndrome 7,,"<Subhead> Brugada Syndrome 7\n\nBrugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).\n\n<Subhead> Atrial Fibrillation 16\n\nAtrial fibrillation (AF) is the most common cardiac arrhythmia in the clinical setting, with a prevalence of 1% in the general population; prevalence increases with age and reaches more than 8% in the ninth decade of life. AF accounts for more than 15% of strokes, and is associated with worsening heart failure and increased mortality. More than 30% of cases of AF are considered to be 'lone AF,' unassociated with coronary artery disease, hypertension, valvular heart disease, hyperthyroidism, heart failure, or structural heart disease (summary by {4:Wang et al., 2010}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see ATFB1 ({608583}).",[613120],[130],[Brugada syndrome],[1030],,,,, +GARD:15621,Active,Orphanet+OMIM,OMIM:613122,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1cc",,,[613122],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15622,Active,Orphanet+OMIM,OMIM:613123,Subtype of disorder,[Disease subtype],Brugada syndrome 8,,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[613123],[130],[Brugada syndrome],[1030],,,,, +GARD:15623,Active,Orphanet+OMIM,OMIM:613144,Subtype of disorder,[Disease subtype],"Choroidal dystrophy, central areolar, 3","[Choroidal dystrophy, central areolar, with or without drusen]","For a general phenotypic description and a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 ({215500}).",[613144],[75377],[Central areolar choroidal dystrophy],[10049],,,,, +GARD:15624,Active,Orphanet+OMIM,OMIM:613150,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2","[Walker-warburg syndrome or muscle-eye-brain disease, pomt2-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' ({5:van Reeuwijk et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[613150],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15625,Active,Orphanet+OMIM,OMIM:613153,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5","[Walker-warburg syndrome or muscle-eye-brain disease, fkrp-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' ({1:Beltran-Valero de Bernabe et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[613153],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15626,Active,Orphanet+OMIM,OMIM:613154,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6","[Walker-warburg syndrome or muscle-eye-brain disease, large-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' ({2:Godfrey et al., 2007}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[613154],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15627,Active,Orphanet+OMIM,OMIM:613172,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1dd",,,[613172],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15628,Active,Orphanet+OMIM,OMIM:613193,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 13","[Ciliary dyskinesia, primary, 13, with or without situs inversus]",,[613193],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15629,Active,Orphanet+OMIM,OMIM:613194,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 50,,,[613194],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15630,Active,Orphanet+OMIM,OMIM:613211,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia3",,,[613211],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:15631,Active,Orphanet+OMIM,OMIM:613216,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1c","[Csnb, complete, autosomal recessive]",,[613216],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15632,Active,Orphanet+OMIM,OMIM:613223,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 5",,,[613223],[548],[Leprosy],[6886],,,,, +GARD:15633,Active,Orphanet+OMIM,OMIM:613225,Subtype of disorder,[Disease subtype],"Factor xiii, a subunit, deficiency of",,"Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit ({26:Kangsadalampai et al., 1999}).\n\n{21,22:Ichinose et al. (1996, 2000)} proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.",[613225],[331],[Congenital factor XIII deficiency],[10766],,,,, +GARD:15634,Active,Orphanet+OMIM,OMIM:613227,Subtype of disorder,[Disease subtype],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3",[Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by {1:Gulsuner et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 ({224050}).",[613227],[1766],[Dysequilibrium syndrome],[1998],,,,, +GARD:15635,Active,Orphanet+OMIM,OMIM:613235,Subtype of disorder,[Disease subtype],"Factor xiii, b subunit, deficiency of",,"Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit ({4:Kangsadalampai et al., 1999}).\n\n{2,3:Ichinose et al. (1996, 2000)} proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.",[613235],[331],[Congenital factor XIII deficiency],[10766],,,,, +GARD:15636,Active,Orphanet+OMIM,OMIM:613237,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 5,"[Glomerulosclerosis, focal segmental, 5]","Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) ({3:Meyrier, 2005}).\n\nDominant intermediate Charcot-Marie-Tooth disease E and focal segmental glomerulonephritis (CMTDIE; {614455}) is also caused by heterozygous mutation in the INF2 gene.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[613237],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15637,Active,Orphanet+OMIM,OMIM:613239,Subtype of disorder,[Disease subtype],"Thyrotoxic periodic paralysis, susceptibility to, 2",,,[613239],[79102],[Thyrotoxic periodic paralysis],[10814],,,,, +GARD:15638,Active,Orphanet+OMIM,OMIM:613244,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 8",,,[613244],[144],[Lynch syndrome],[9905],,,,, +GARD:15639,Active,Orphanet+OMIM,OMIM:613252,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1ee",,,[613252],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:1564,Active,Orphanet,ORPHA:1525,Disorder,[Malformation syndrome],Cranio-osteoarthropathy,"[Currarino disease, Currarino idiopathic osteoarthropathy, Reginato-Schiapachasse syndrome]","Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.",[259100],,,,,Cranio osteoarthropathy,TRUE,FALSE,Active +GARD:15640,Active,Orphanet+OMIM,OMIM:613254,Subtype of disorder,[Disease subtype],Tuberous sclerosis 2,,"Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 ({191100}), caused by mutation in the TSC1 gene ({605284}) on chromosome 9q34.\n\nApproximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).",[613254],[805],[Tuberous sclerosis complex],[7830],,,,, +GARD:15641,Active,Orphanet+OMIM,OMIM:613265,Subtype of disorder,[Disease subtype],"Waardenburg syndrome, type 4b","[Waardenburg syndrome, type 4b, with hirschsprung disease, waardenburg syndrome, type ivb]","Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by {5:Read and Newton, 1997}). WS type 4B is caused by mutation in the EDN3 gene ({131242}). WS type 4 is genetically heterogeneous (see WS4A; {277580}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS2 ({193510}), and WS3 ({148820}).",[613265],[897],[Waardenburg-Shah syndrome],[5524],,,,, +GARD:15642,Active,Orphanet+OMIM,OMIM:613266,Subtype of disorder,[Disease subtype],"Waardenburg syndrome, type 4c","[Waardenburg syndrome with hirschsprung disease, type 4c, waardenburg syndrome, type ivc]","Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by {5:Read and Newton, 1997}). WS type 4C is caused by mutation in the SOX10 gene ({602229}). WS type 4 is genetically heterogeneous (see WS4A; {277580}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS2 ({193510}), and WS3 ({148820}).",[613266],[897],[Waardenburg-Shah syndrome],[5524],,,,, +GARD:15643,Active,Orphanet+OMIM,OMIM:613286,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1ff",,,[613286],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15644,Active,Orphanet+OMIM,OMIM:613308,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 9,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {3:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[613308],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15645,Active,Orphanet+OMIM,OMIM:613309,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 10,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[613309],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15646,Active,Orphanet+OMIM,OMIM:613310,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 5,,"Familial exudative vitreoretinopathy is an inherited blinding disorder caused by defects in the development of retinal vasculature. There is extensive variation in disease severity among patients, even between members of the same family. Severely affected individuals often are registered as blind during infancy and can present with a phenotype resembling retinal dysplasia. Conversely, mildly affected individuals frequently have few or no visual problems and may have just a small area of avascularity in their peripheral retina, detectable only by fluorescein angiography (summary by {4:Poulter et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial exudative vitreoretinopathy (FEVR), see EVR1 ({133780}).",[613310],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:15647,Active,Orphanet+OMIM,OMIM:613313,Subtype of disorder,[Disease subtype],"Hemochromatosis, type 2b",,"Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by {5:Roetto et al., 1999}). HFE2B is caused by mutation in the HAMP gene ({606464}). HFE2 is genetically heterogeneous (see HFE2A, {602390}).",[613313],[79230],[Hemochromatosis type 2],[10092],,,,, +GARD:15648,Active,Orphanet+OMIM,OMIM:613318,Subtype of disorder,[Disease subtype],Miyoshi muscular dystrophy 2,,"For a general phenotypic description and a discussion of genetic heterogeneity of Miyoshi muscular dystrophy, see MMD1 ({254130}).",[613318],[45448],[Miyoshi myopathy],[9676],,,,, +GARD:15649,Active,Orphanet+OMIM,OMIM:613345,Subtype of disorder,[Disease subtype],"Hypokalemic periodic paralysis, type 2",,,[613345],[681],[Hypokalemic periodic paralysis],[6729],,,,, +GARD:1565,Legacy,GARD,,,,,,,,,,,,Cranioacrofacial syndrome,TRUE,FALSE,Retired +GARD:15650,Active,Orphanet+OMIM,OMIM:613347,Subtype of disorder,[Disease subtype],"Pancreatic cancer, susceptibility to, 2",[Pnca2],,[613347],[1333],[Familial pancreatic carcinoma],[4206],,,,, +GARD:15651,Active,Orphanet+OMIM,OMIM:613348,Subtype of disorder,[Disease subtype],"Pancreatic cancer, susceptibility to, 3",[Pnca3],,[613348],[1333],[Familial pancreatic carcinoma],[4206],,,,, +GARD:15652,Active,Orphanet+OMIM,OMIM:613370,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 10",,,[613370],[552],[MODY],[3697],,,,, +GARD:15653,Active,Orphanet+OMIM,OMIM:613375,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 11",,,[613375],[552],[MODY],[3697],,,,, +GARD:15654,Active,Orphanet+OMIM,OMIM:613382,Subtype of disorder,[Malformation syndrome subtype],"Brachydactyly, type e2",,,[613382],[93387],[Brachydactyly type E],[987],,,,, +GARD:15655,Active,Orphanet+OMIM,OMIM:613388,Subtype of disorder,[Disease subtype],Fanconi renotubular syndrome 2,,,[613388],[3337],[Primary Fanconi renotubular syndrome],[9118],,,,, +GARD:15656,Active,Orphanet+OMIM,OMIM:613390,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group o",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[613390],[84],[Fanconi anemia],[6425],,,,, +GARD:15657,Active,Orphanet+OMIM,OMIM:613399,Subtype of disorder,[Disease subtype],"Breast-ovarian cancer, familial, susceptibility to, 3",,,[613399],[145],[Hereditary breast and ovarian cancer syndrome],[15010],,,,, +GARD:15658,Active,Orphanet+OMIM,OMIM:613404,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, renal dysfunction, and cholestasis 2",,,[613404],[2697],[Arthrogryposis-renal dysfunction-cholestasis syndrome],[794],,,,, +GARD:15659,Active,Orphanet+OMIM,OMIM:613407,Subtype of disorder,[Disease subtype],"Leprosy, susceptibility to, 6",,See {609888} for a discussion of leprosy susceptibility in general and information on genetic heterogeneity.,[613407],[548],[Leprosy],[6886],,,,, +GARD:15660,Active,Orphanet+OMIM,OMIM:613411,Subtype of disorder,[Malformation syndrome subtype],Oguchi disease 2,"[Night blindness, congenital stationary, oguchi type 2]","Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by {3:Fuchs et al., 1995}).\n\nFor a general description and a discussion of genetic heterogeneity of Oguchi disease, see CSNBO1 ({258100}).",[613411],[75382],[Oguchi disease],[10118],,,,, +GARD:15661,Active,Orphanet+OMIM,OMIM:613424,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1r",,,[613424],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15662,Active,Orphanet+OMIM,OMIM:613428,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 54,,,[613428],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15663,Active,Orphanet+OMIM,OMIM:613435,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia,,"Amyotrophic lateral sclerosis-12 with or without frontotemporal dementia (ALS12) is a neurodegenerative disorder characterized by onset of ALS in adulthood. Rare patients may also develop frontotemporal dementia (FTD). Autosomal dominant and autosomal recessive inheritance patterns have been reported; there is also sporadic occurrence (summary by {3:Maruyama et al., 2010} and {1:Feng et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400}).",[613435],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15664,Active,Orphanet+OMIM,OMIM:613454,Subtype of disorder,[Disease subtype],"Rett syndrome, congenital variant",,"The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; {312750}), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene ({300005}).",[613454],[3095],[Atypical Rett syndrome],[4694],,,,, +GARD:15665,Active,Orphanet+OMIM,OMIM:613464,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 51,,,[613464],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15666,Active,Orphanet+OMIM,OMIM:613485,Subtype of disorder,[Disease subtype],Long qt syndrome 13,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({1:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[613485],[101016],[Romano-Ward syndrome],[3284],,,,, +GARD:15667,Active,Orphanet+OMIM,OMIM:613488,Subtype of disorder,[Histopathological subtype],Myxoid liposarcoma,,"Myxoid liposarcoma is a soft tissue tumor that tends to occur in the limbs (especially the thigh) of patients ranging in age from 35 to 55 years. It is defined by the presence of a hypocellular spindle cell proliferation set in a myxoid background, often with mucin pooling. Lipoblasts tend to be small and often monovacuolated and to cluster around vessels or at the periphery of the lesion (review by {4:Dei Tos, 2000}).",[613488],[99967],[Myxoid/round cell liposarcoma],[7157],,,,, +GARD:15668,Active,Orphanet+OMIM,OMIM:613493,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 3",[Antibody deficiency due to cd19 defect],,[613493],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15669,Active,Orphanet+OMIM,OMIM:613494,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 4",[Antibody deficiency due to baffr defect],,[613494],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:1567,Active,Orphanet,ORPHA:1513,Disorder,[Malformation syndrome],Craniodiaphyseal dysplasia,,"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.","[122860, 218300]",,,,,Craniodiaphyseal dysplasia,TRUE,FALSE,Active +GARD:15670,Active,Orphanet+OMIM,OMIM:613495,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 5",[Antibody deficiency due to cd20 defect],,[613495],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15671,Active,Orphanet+OMIM,OMIM:613496,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 6",[Antibody deficiency due to cd81 defect],,[613496],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15672,Active,Orphanet+OMIM,OMIM:613500,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 2, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to igll1 defect]",,[613500],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15673,Active,Orphanet+OMIM,OMIM:613501,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 3, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to cd79a defect]",,[613501],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15674,Active,Orphanet+OMIM,OMIM:613502,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 4, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to blnk defect]",,[613502],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15675,Active,Orphanet+OMIM,OMIM:613506,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 5, autosomal dominant","[Agammaglobulinemia, autosomal dominant, due to lrrc8a defect]",,[613506],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15676,Active,Orphanet+OMIM,OMIM:613561,Subtype of disorder,[Disease subtype],"Myopathy, lactic acidosis, and sideroblastic anemia 2",,"Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by {3:Riley et al., 2013}).\n\nFor a discussion of genetic heterogeneity of MLASA, see MLASA1 ({600462}).",[613561],[2598],[Mitochondrial myopathy and sideroblastic anemia],[3885],,,,, +GARD:15677,Active,Orphanet+OMIM,OMIM:613575,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 55,,,[613575],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15678,Active,Orphanet+OMIM,OMIM:613581,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 56,,"Retinitis pigmentosa-56 (RP56) is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity ({1:Bandah-Rozenfeld et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[613581],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15679,Active,Orphanet+OMIM,OMIM:613582,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 57,,,[613582],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:1568,Legacy,GARD,,,,,,,,,,,,Craniodigital syndrome mental retardation,TRUE,FALSE,Retired +GARD:15680,Active,Orphanet+OMIM,OMIM:613610,Subtype of disorder,[Malformation syndrome subtype],Cranioectodermal dysplasia 2,,"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by {1:Arts et al., 2011}).\n\nFor a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 ({218330}).",[613610],[1515],[Cranioectodermal dysplasia],[359],,,,, +GARD:15681,Active,Orphanet+OMIM,OMIM:613615,Subtype of disorder,[Disease subtype],Senior-loken syndrome 7,,,[613615],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15682,Active,Orphanet+OMIM,OMIM:613617,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 58,,,[613617],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15683,Active,Orphanet+OMIM,OMIM:613640,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory and autonomic, type ic","[Hsan ic, hsn ic, neuropathy, hereditary sensory, type ic]","Hereditary sensory and autonomic neuropathy type IC (HSAN1C) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2 and/or pyramidal signs. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic. (summary by {7:Rotthier et al., 2010}, {4:Gantner et al., 2019}, and {9:Triplett et al., 2019}). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits ({3:Fridman et al., 2019}).\n\nFor a discussion of genetic heterogeneity of HSAN, see HSAN1A ({162400}).",[613640],[36386],[Hereditary sensory and autonomic neuropathy type 1],[6635],,,,, +GARD:15684,Active,Orphanet+OMIM,OMIM:613642,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1gg",,,[613642],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15685,Active,Orphanet+OMIM,OMIM:613657,Subtype of disorder,[Disease subtype],D-2-hydroxyglutaric aciduria 2,,,[613657],[79315],[D-2-hydroxyglutaric aciduria],[5661],,,,, +GARD:15686,Active,Orphanet+OMIM,OMIM:613660,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 15,,,[613660],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15687,Active,Orphanet+OMIM,OMIM:613676,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 4,,"Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features ({2:Faivre et al., 2002}).\n\nFor a general description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.",[613676],[808],[Seckel syndrome],[8562],,,,, +GARD:15688,Active,Orphanet+OMIM,OMIM:613681,Subtype of disorder,[Malformation syndrome subtype],Chromosome 2q31.1 duplication syndrome,,,[613681],[1836],"[Mesomelic dysplasia, Kantaputra type]",[3074],,,,, +GARD:15689,Active,Orphanet+OMIM,OMIM:613694,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1u",,,[613694],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15690,Active,Orphanet+OMIM,OMIM:613697,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1v",,,[613697],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15691,Active,Orphanet+OMIM,OMIM:613702,Subtype of disorder,[Malformation syndrome subtype],"Klippel-feil syndrome 3, autosomal dominant",,"Klippel-Feil syndrome is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ({1:Tracy et al., 2004}).\n\nFor a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 ({118100}).",[613702],[2345],[Isolated Klippel-Feil syndrome],[10280],,,,, +GARD:15692,Active,Orphanet+OMIM,OMIM:613703,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 6",,,[613703],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15693,Active,Orphanet+OMIM,OMIM:613706,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 7,,"Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by {1:Sarkozy et al., 2009}).",[613706],[648],[Noonan syndrome],[10955],,,,, +GARD:15694,Active,Orphanet+OMIM,OMIM:613707,Subtype of disorder,[Malformation syndrome subtype],Leopard syndrome 3,,,[613707],[500],[Noonan syndrome with multiple lentigines],[1100],,,,, +GARD:15695,Active,Orphanet+OMIM,OMIM:613708,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory, type id",,"Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by {1:Guelly et al., 2011}).\n\nFor a discussion of genetic heterogeneity of HSAN, see HSAN1A ({162400}).\n\nSpastic paraplegia-3A (SPG3A; {182600}) is an allelic disorder with a different phenotype.",[613708],[36386],[Hereditary sensory and autonomic neuropathy type 1],[6635],,,,, +GARD:15696,Active,Orphanet+OMIM,OMIM:613711,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 3",,"The disorder described by {5:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\n{6:Hofstra et al. (1997)} discussed the possible role of GDNF in the pathogenesis of Hirschsprung disease.\n\nFor a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see {142623}.",[613711],[388],[Hirschsprung disease],[6660],,,,, +GARD:15697,Active,Orphanet+OMIM,OMIM:613712,Subtype of disorder,[Disease subtype],"Hirschsprung disease, susceptibility to, 4",,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see {142623}.",[613712],[388],[Hirschsprung disease],[6660],,,,, +GARD:15698,Active,Orphanet+OMIM,OMIM:613717,Subtype of disorder,[Malformation syndrome subtype],Treacher collins syndrome 2,,"Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss ({1:Dauwerse et al., 2011}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 ({154500}).",[613717],[861],[Treacher-Collins syndrome],[9124],,,,, +GARD:15699,Active,Orphanet+OMIM,OMIM:613721,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 11,"[Epileptic encephalopathy, early infantile, 11]","Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. Some patients may have later onset. Seizures comprise multiple types, including tonic, generalized, and myoclonic, and tend to be refractory to medication. However, some patients with onset of seizures before 3 months of age may respond to sodium channel blockers, particularly phenytoin. About half of patients become seizure-free in childhood. Affected individuals have global developmental delay, usually with severely impaired intellectual development, although some may be less severely affected and show autism spectrum disorder. Additional common features include microcephaly, hypotonia, and abnormal movements, such as dystonia, dyskinesias, and choreoathetotic movements. Brain imaging may show white matter defects. The phenotype is highly variable, even in patients with the same mutation (summary by {6:Ogiwara et al., 2009}; {4:Howell et al., 2015}; {10:Wolff et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[613721],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:157,Active,Orphanet,ORPHA:2155,Disorder,[Malformation syndrome],Hirschsprung disease-deafness-polydactyly syndrome,"[Hirschsprung disease-hearing loss-polydactyly syndrome, Santos-Mateus-Leal syndrome]","Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.",[235740],,,,,Santos Mateus Leal syndrome,TRUE,FALSE,Active +GARD:1570,Legacy,GARD,,,,,,,,,,,,Craniofacial and skeletal defects,TRUE,FALSE,Active +GARD:15700,Active,Orphanet+OMIM,OMIM:613750,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 27,,,[613750],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15701,Active,Orphanet+OMIM,OMIM:613756,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 49,,,[613756],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15702,Active,Orphanet+OMIM,OMIM:613758,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 47,,,[613758],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15703,Active,Orphanet+OMIM,OMIM:613762,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 6","[46,xy sex reversal, partial or complete, map3k1-related, 46,xy gonadal dysgenesis, partial or complete, map3k1-related]",,[613762],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,,,, +GARD:15704,Active,Orphanet+OMIM,OMIM:613767,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 45,,,[613767],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15705,Active,Orphanet+OMIM,OMIM:613769,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 44,,,[613769],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15706,Active,Orphanet+OMIM,OMIM:613780,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 7","[Aortic dissection, familial, with or without aortic aneurysm]",,[613780],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:15707,Active,Orphanet+OMIM,OMIM:613783,Subtype of disorder,[Disease subtype],Complement component c1s deficiency,[C1s deficiency],,[613783],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,,,, +GARD:15708,Active,Orphanet+OMIM,OMIM:613800,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 2,,,[613800],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15709,Active,Orphanet+OMIM,OMIM:613801,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 40,,,[613801],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:1571,Active,Orphanet,ORPHA:1529,Disorder,[Malformation syndrome],Craniofacial-deafness-hand syndrome,"[CDHS, Craniofacial-hearing loss-hand syndrome, Sommer-Young-Wee-Frye syndrome]","A rare autosomal dominant, multiple congenital anomalies syndrome characterized by facial dysmorphism (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, and small, pursed mouth), profound sensorineural deafness, ulnar deviations and contractures of the hand. This disorder is allelic to Waardenburg syndrome, and distinguished by the imaging findings and distinct facial features.",[122880],,,,,Craniofacial deafness hand syndrome,TRUE,FALSE,Active +GARD:15710,Active,Orphanet+OMIM,OMIM:613803,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 3,,,[613803],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15711,Active,Orphanet+OMIM,OMIM:613804,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 4,,,[613804],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15712,Active,Orphanet+OMIM,OMIM:613805,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 5,,,[613805],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:15713,Active,Orphanet+OMIM,OMIM:613807,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 14","[Ciliary dyskinesia, primary, 14, with or without situs inversus]","Primary ciliary dyskinesia-14 (CILD14) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization ({3:Merveille et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[613807],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15714,Active,Orphanet+OMIM,OMIM:613808,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 15","[Ciliary dyskinesia, primary, 15, with or without situs inversus]","Primary ciliary dyskinesia-15 (CILD15) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (summary by {2:Becker-Heck et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[613808],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15715,Active,Orphanet+OMIM,OMIM:613809,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 39,,,[613809],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15716,Active,Orphanet+OMIM,OMIM:613810,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 43,,,[613810],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15717,Active,Orphanet+OMIM,OMIM:613811,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2d","[Cerebellocerebral atrophy, progressive]","PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by {2:Ben-Zeev et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A ({277470}).",[613811],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:15718,Active,Orphanet+OMIM,OMIM:613819,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 4 with or without polydactyly,[Asphyxiating thoracic dystrophy 4],"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {2:Huber and Cormier-Daire, 2012} and {4:Schmidts et al., 2013}). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[613819],[474],[Jeune syndrome],[3049],,,,, +GARD:15719,Active,Orphanet+OMIM,OMIM:613823,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 5,,"Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by {1:Kalay et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.",[613823],[808],[Seckel syndrome],[8562],,,,, +GARD:15720,Active,Orphanet+OMIM,OMIM:613827,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 48,,,[613827],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15721,Active,Orphanet+OMIM,OMIM:613830,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1d","[Csnb, complete, autosomal recessive]","CSNB1D is an autosomal recessive form of congenital stationary night blindness that is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients with Riggs-type CSNB have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by {2:Riazuddin et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A ({310500}).",[613830],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15722,Active,Orphanet+OMIM,OMIM:613849,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xii","[Oi, type xii]","Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by {2:Lapunzina et al., 2010}).",[613849],[216820],[Osteogenesis imperfecta type 4],[8696],,,,, +GARD:15723,Active,Orphanet+OMIM,OMIM:613856,Subtype of disorder,[Disease subtype],Achromatopsia 4,,"Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus ({2:Kohl et al., 2002}).\n\nFor a general description and a discussion of genetic heterogeneity of achromatopsia, see {216900}.",[613856],[49382],[Achromatopsia],[15015],,,,, +GARD:15724,Active,Orphanet+OMIM,OMIM:613861,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 59,,,[613861],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15725,Active,Orphanet+OMIM,OMIM:613862,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 38,"[Rod-cone dystrophy, childhood-onset]","Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by {4:Mackay et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[613862],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15726,Active,Orphanet+OMIM,OMIM:613881,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1hh",,,[613881],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15727,Active,Orphanet+OMIM,OMIM:613885,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 8",,"Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by {1:Shaheen et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 ({249000}).",[613885],[564],[Meckel syndrome],[3436],,,,, +GARD:15728,Active,Orphanet+OMIM,OMIM:613925,Subtype of disorder,[Disease subtype],Megalencephalic leukoencephalopathy with subcortical cysts 2a,,"Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by {1:Lopez-Hernandez et al., 2011}).\n\nHeterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B; {613926}).",[613925],[2478],[Megalencephalic leukoencephalopathy with subcortical cysts],[3445],,,,, +GARD:15729,Active,Orphanet+OMIM,OMIM:613926,Subtype of disorder,[Disease subtype],"Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation",,"Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by {2:van der Knaap et al., 2010} and {1:Lopez-Hernandez et al., 2011}).\n\nHomozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A; {613925}).\n\nFor a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 ({604004}).",[613926],"[210548, 2478]","[Macrocephaly-intellectual disability-autism syndrome, Megalencephalic leukoencephalopathy with subcortical cysts]","[3445, 17112]",,,,, +GARD:1573,Legacy,GARD,,,,,,,,,,,,Craniofacial dysostosis arthrogryposis progeroid appearence,TRUE,FALSE,Active +GARD:15730,Active,Orphanet+OMIM,OMIM:613930,Subtype of disorder,[Disease subtype],Alopecia-intellectual disability syndrome 3,,"For a discussion of genetic heterogeneity of alopecia-intellectual disability syndrome, see APMR1 ({203650}).",[613930],[2850],[Alopecia-intellectual disability syndrome],[612],,,,, +GARD:15731,Active,Orphanet+OMIM,OMIM:613951,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group p",,"Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by {2:Kim et al., 2011}).\n\nFor a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.",[613951],[84],[Fanconi anemia],[6425],,,,, +GARD:15732,Active,Orphanet+OMIM,OMIM:613953,Subtype of disorder,[Disease subtype],Immunodeficiency 51,"[Candidiasis, familial, 5, formerly]","Immunodeficiency-51 (IMD51) is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A ({603149}), IL17F ({606496}), IL17A/F, and IL17E (IL25; {605658}) (summary by {2:Levy et al., 2016}).",[613953],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15733,Active,Orphanet+OMIM,OMIM:613954,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,"[Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, formerly]","Frontotemporal dementia and/or amyotrophic lateral sclerosis-6 (FTDALS6) is an autosomal dominant neurodegenerative disorder with highly variable manifestations. Some patients present in adulthood with progressive FTD, often classified as the 'behavioral variant,' which is characterized by reduced empathy, impulsive behavior, personality changes, and reduced verbal output. Other patients present with features of amyotrophic lateral sclerosis (ALS), which is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of this disease include pallor of the corticospinal tract due to loss of motor neurons (in ALS). In both ALS and FTD, there are ubiquitin-positive inclusions within surviving neurons as well as deposition of pathologic TDP43 (TARDBP; {605078}) or p62 (SQSTM1; {601530}) aggregates. Patients with a D395G mutation ({601023.0014}) have been shown to develop pathologic tau (MAPT; {157140}) aggregates. Some patients with the disorder may have features of both diseases, and there is significant interfamilial and intrafamilial phenotypic variability (summary by {4:Johnson et al., 2010}; {7:Wong et al., 2018}; {2:Al-Obeidi et al., 2018}; {3:Darwich et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[613954],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,,,, +GARD:15734,Active,Orphanet+OMIM,OMIM:613957,Subtype of disorder,[Disease subtype],Spermatogenic failure 8,,,[613957],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15735,Active,Orphanet+OMIM,OMIM:613958,Subtype of disorder,[Clinical subtype],Spermatogenic failure 9,"[globozoospermia, total, Globozoospermia, complete]","Spermatogenic failure-9 (SPGF9) is associated with globozoospermia, a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without an acrosome (summary by {3:Harbuz et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[613958],[171709],[Male infertility due to globozoospermia],[12502],,,,, +GARD:15736,Active,Orphanet+OMIM,OMIM:613960,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 3","[cgd, autosomal recessive cytochrome b-positive, type iii, granulomatous disease, chronic, due to ncf4 deficiency, Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii]","Autosomal recessive chronic granulomatous disease-3 (CGD3) is an immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation with onset usually in the first decade of life. Most patients present with colitis and features of inflammatory bowel disease. Other common manifestations include lupus-like skin lesions, skin granulomas, Staphylococcal abscesses, oral ulcers, and periodontitis. Patients usually do not have invasive infections and are not markedly susceptible to fungal infections. The disorder results from variable loss of phagocyte superoxide production due to NADPH oxidase dysfunction; it is generally less severe than other genetic types of CGD (summary by {2:Matute et al., 2009}; {4:van de Geer et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; {306400}).",[613960],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:15737,Active,Orphanet+OMIM,OMIM:613980,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 9",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[613980],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15738,Active,Orphanet+OMIM,OMIM:613983,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 60,,,[613983],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15739,Active,Orphanet+OMIM,OMIM:613987,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 2",,"Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by {1:Vulliamy et al., 2008}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[613987],[1775],[Dyskeratosis congenita],[10905],,,,, +GARD:15740,Active,Orphanet+OMIM,OMIM:613988,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 3",,"Dyskeratosis congenita is a genetic disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition caused by short telomeres resulting from a defect in telomerase. Clinical manifestations may be seen in the skin as leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues (summary by {2:Zhong et al., 2011}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[613988],[1775],[Dyskeratosis congenita],[10905],,,,, +GARD:15741,Active,Orphanet+OMIM,OMIM:613989,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal dominant 2",,"Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by {1:Armanios et al., 2005}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[613989],"[1775, 3322]","[Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome]","[10905, 346]",,,,, +GARD:15742,Active,Orphanet+OMIM,OMIM:613990,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal dominant 3",,"Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by {3:Savage et al., 2008}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 ({127550}).",[613990],"[1775, 3322]","[Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome]","[10905, 346]",,,,, +GARD:15743,Active,Orphanet+OMIM,OMIM:614017,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 16","[Ciliary dyskinesia, primary, 16, with or without situs inversus]","Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms ({1:Mazor et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[614017],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15744,Active,Orphanet+OMIM,OMIM:614021,Subtype of disorder,[Disease subtype],"Ventricular tachycardia, catecholaminergic polymorphic, 3",,"Catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is characterized by overlapping features of long QT syndrome (see {192500}) and CPVT. Affected individuals exhibit adrenergic ventricular tachycardia associated with a high prevalence of cardiac arrest and sudden cardiac death, with recurrent atrial tachycardia sometimes triggering the ventricular arrhythmias. In addition, affected individuals have a normal or mildly prolonged QTc on baseline electrocardiography, with a paradoxical QT increase during adrenergic simulation (summary by {2:Devalla et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see {604772}.",[614021],[3286],[Catecholaminergic polymorphic ventricular tachycardia],[4421],,,,, +GARD:15745,Active,Orphanet+OMIM,OMIM:614022,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 10",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[614022],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15746,Active,Orphanet+OMIM,OMIM:614042,Subtype of disorder,[Disease subtype],Moyamoya disease 5,,"Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by {2:Roder et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350}).",[614042],[2573],[Moyamoya disease],[7064],,,,, +GARD:15747,Active,Orphanet+OMIM,OMIM:614049,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 11",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583}).",[614049],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15748,Active,Orphanet+OMIM,OMIM:614050,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 12",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583}).",[614050],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15749,Active,Orphanet+OMIM,OMIM:614066,Subtype of disorder,[Disease subtype],"Spastic paraplegia 47, autosomal recessive","[Cerebral palsy, spastic quadriplegic, 5, formerly]","Spastic paraplegia-47 (SPG47) is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by {2:Abou Jamra et al., 2011}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800}).",[614066],[280763],[Severe intellectual disability and progressive spastic paraplegia],[10999],,,,, +GARD:1575,Active,Orphanet,ORPHA:1516,Disorder,[Malformation syndrome],Non-syndromic bilambdoid and sagittal craniosynostosis,"[BLSS, Bilateral lambdoid and sagittal synostosis, Isolated sagittal and bilambdoid craniosynostosis, Non-syndromic sagittal and bilateral lambdoid synostosis]","A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.",[218350],,,,,Craniofacial dyssynostosis,TRUE,FALSE,Active +GARD:15750,Active,Orphanet+OMIM,OMIM:614067,Subtype of disorder,[Disease subtype],"Spastic paraplegia 52, autosomal recessive","[Cerebral palsy, spastic quadriplegic, 6, formerly]","Spastic quadriplegia-52 (SPG52) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by {1:Abou Jamra et al., 2011}). Some patients may have seizures ({2:Hardies et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800}).",[614067],[280763],[Severe intellectual disability and progressive spastic paraplegia],[10999],,,,, +GARD:15751,Active,Orphanet+OMIM,OMIM:614069,Subtype of disorder,[Malformation syndrome subtype],Immunodeficiency-centromeric instability-facial anomalies syndrome 2,,"Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by {2:de Greef et al., 2011}).\n\nFor a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 ({242860}).",[614069],[2268],[ICF syndrome],[2945],,,,, +GARD:15752,Active,Orphanet+OMIM,OMIM:614079,Subtype of disorder,[Disease subtype],"Aspergillosis, susceptibility to",,"Aspergillus species are ubiquitous in nature and cause a wide spectrum of diseases, including saprophytic colonization of existing cavities (aspergilloma), allergic asthma, hypersensitivity pneumonitis, allergic bronchopulmonary aspergillosis, and disseminated disease associated with high mortality rates in patients with hematologic malignancies and recipients of solid organs and stem cell transplantations. Immunocompetent and nonatopic individuals are relatively resistant to infection, and disease occurs in the setting of host damage. Association of persistent inflammation with intractable infection is common in nonneutropenic patients after hematopoietic stem cell transplantation, as well as in allergic fungal diseases. The pathophysiology underlying Aspergillus infection highlights the bipolar nature of the inflammatory process in infection, in which early inflammation prevents or limits infection, but an uncontrolled response may oppose disease eradication (summary by {6:Cunha et al., 2010}).\n\nFor information on familial occurrence of allergic bronchopulmonary aspergillosis, see {103920}.",[614079],[1163],[Aspergillosis],[5856],,,,, +GARD:15753,Active,Orphanet+OMIM,OMIM:614082,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group g",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[614082],[84],[Fanconi anemia],[6425],,,,, +GARD:15754,Active,Orphanet+OMIM,OMIM:614083,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group l",,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[614083],[84],[Fanconi anemia],[6425],,,,, +GARD:15755,Active,Orphanet+OMIM,OMIM:614089,Subtype of disorder,[Clinical subtype],Atrial septal defect 3,,,[614089],[99103],"[Atrial septal defect, ostium secundum type]",[5865],,,,, +GARD:15756,Active,Orphanet+OMIM,OMIM:614091,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 7 with or without polydactyly,"[Short rib-polydactyly syndrome, type v]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {3:Huber and Cormier-Daire, 2012} and {6:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[614091],[93271],"[Short rib-polydactyly syndrome, Verma-Naumoff type]",[4835],,,,, +GARD:15757,Active,Orphanet+OMIM,OMIM:614099,Subtype of disorder,[Malformation syndrome subtype],Cranioectodermal dysplasia 3,,"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by {1:Arts et al., 2011}).\n\nFor discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 ({218330}).",[614099],[1515],[Cranioectodermal dysplasia],[359],,,,, +GARD:15758,Active,Orphanet+OMIM,OMIM:614114,Subtype of disorder,[Malformation syndrome subtype],Mosaic variegated aneuploidy syndrome 2,,"Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from defects in cell division (summary by {4:Snape et al., 2011}).\n\nSee also MVA1 ({257300}), caused by mutation in the BUB1B gene ({602860}) on chromosome 15q15.",[614114],[1052],[Mosaic variegated aneuploidy syndrome],[3007],,,,, +GARD:15759,Active,Orphanet+OMIM,OMIM:614120,Subtype of disorder,[Malformation syndrome subtype],Hydrolethalus syndrome 2,,"Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by {1:Putoux et al., 2011}).\n\nAcrocallosal syndrome (ACLS; {200990}) is an allelic disorder with a less severe phenotype.\n\nFor a discussion of genetic heterogeneity of hydrolethalus syndrome, see {236680}.",[614120],[2189],[Hydrolethalus],[6683],,,,, +GARD:15760,Active,Orphanet+OMIM,OMIM:614129,Subtype of disorder,[Disease subtype],Perrault syndrome 3,"[Deafness, autosomal recessive 81, formerly]","Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by {4:Jenkinson et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 ({233400}).",[614129],[2855],[Perrault syndrome],[2542],,,,, +GARD:15761,Active,Orphanet+OMIM,OMIM:614131,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 6,"[Glomerulosclerosis, focal segmental, 6]","Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by {2:Mele et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[614131],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15762,Active,Orphanet+OMIM,OMIM:614149,Subtype of disorder,[Clinical subtype],"Nail disorder, nonsyndromic congenital, 9",,"Although nails appear normal at birth, dystrophic changes develop within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails (summary by {1:Rafiq et al., 2004}). This disorder is referred to here as nonsyndromic congenital nail disorder-9 (NDNC9).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050}).",[614149],[90390],[Anonychia-onychodystrophy syndrome],[710],,,,, +GARD:15763,Active,Orphanet+OMIM,OMIM:614165,Subtype of disorder,[Disease subtype],Paragangliomas 5,,,[614165],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,,,, +GARD:15764,Active,Orphanet+OMIM,OMIM:614170,Subtype of disorder,[Disease subtype],Brittle cornea syndrome 2,,"Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints ({1:Al-Hussain et al., 2004}). It is classified as a form of Ehlers-Danlos syndrome ({5:Malfait et al., 2017}).\n\nFor a discussion of genetic heterogeneity of brittle cornea syndrome, see BCS1 ({229200}).",[614170],[90354],[Brittle cornea syndrome],[1019],,,,, +GARD:15765,Active,Orphanet+OMIM,OMIM:614173,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 13,,,[614173],[475],[Joubert syndrome],[6802],,,,, +GARD:15766,Active,Orphanet+OMIM,OMIM:614180,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 61,,,[614180],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15767,Active,Orphanet+OMIM,OMIM:614181,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 62,,,[614181],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15768,Active,Orphanet+OMIM,OMIM:614185,Subtype of disorder,[Malformation syndrome subtype],Geleophysic dysplasia 2,,,[614185],[2623],[Geleophysic dysplasia],[2449],,,,, +GARD:15769,Active,Orphanet+OMIM,OMIM:614190,Subtype of disorder,[Disease subtype],"Pigmented nodular adrenocortical disease, primary, 3","[Cushing syndrome, adrenal, due to ppnad3]",,[614190],[189439],[Primary pigmented nodular adrenocortical disease],[10906],,,,, +GARD:15770,Active,Orphanet+OMIM,OMIM:614196,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 6",,"The nephrotic syndrome refers to a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema, resulting in end-stage kidney disease if untreated. Inherited defects in podocyte structure and function have been observed in some children with the steroid-resistant subtype of nephrotic syndrome (summary by {1:Ozaltin et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[614196],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15771,Active,Orphanet+OMIM,OMIM:614198,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 16","[Myasthenic syndrome, congenital, acetazolamide-responsive]","Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by {1:Arnold et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[614198],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:15772,Active,Orphanet+OMIM,OMIM:614205,Subtype of disorder,[Malformation syndrome subtype],Three m syndrome 3,[3m syndrome 3],"3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by {2:Hanson et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 ({273750}).",[614205],[2616],[3M syndrome],[5667],,,,, +GARD:15773,Active,Orphanet+OMIM,OMIM:614209,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 9",,"Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by {1:Hopp et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 ({249000}).",[614209],[564],[Meckel syndrome],[3436],,,,, +GARD:15774,Active,Orphanet+OMIM,OMIM:614213,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory, type iic",,"HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by {1:Riviere et al., 2011}).\n\nFor a discussion of genetic heterogeneity of HSN, see HSAN1 ({162400}).",[614213],[970],[Hereditary sensory and autonomic neuropathy type 2],[3976],,,,, +GARD:15775,Active,Orphanet+OMIM,OMIM:614219,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 2,,"Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by {10:Shaheen et al., 2011}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[614219],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:15776,Active,Orphanet+OMIM,OMIM:614220,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 4",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {3:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720}).",[614220],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15777,Active,Orphanet+OMIM,OMIM:614221,Subtype of disorder,[Disease subtype],"Biliary cirrhosis, primary, 5",,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {3:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720}).",[614221],[186],[Primary biliary cholangitis],[7459],,,,, +GARD:15778,Active,Orphanet+OMIM,OMIM:614222,Subtype of disorder,[Malformation syndrome subtype],Warburg micro syndrome 3,[Micro syndrome 3],"Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by {5:Morris-Rosendahl et al., 2010}).\n\nFor a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.",[614222],[2510],[Micro syndrome],[5534],,,,, +GARD:15779,Active,Orphanet+OMIM,OMIM:614223,Subtype of disorder,[Disease subtype],"Narcolepsy 6, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}.",[614223],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:1578,Active,Orphanet,ORPHA:1520,Disorder,[Malformation syndrome],Craniofrontonasal dysplasia,"[CFND, CFNS, Craniofrontonasal syndrome]","A rare X-linked malformation syndrome characterized by craniofacial abnormalities, grooved nails, intellectual disability and various skeletal and soft tissue abnormalities.",[304110],,,,,Craniofrontonasal dysplasia,TRUE,FALSE,Active +GARD:15780,Active,Orphanet+OMIM,OMIM:614225,Subtype of disorder,[Malformation syndrome subtype],Warburg micro syndrome 2,[Micro syndrome 2],,[614225],[2510],[Micro syndrome],[5534],,,,, +GARD:15781,Active,Orphanet+OMIM,OMIM:614237,Subtype of disorder,[Disease subtype],Hypotrichosis 9,,"For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.",[614237],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:15782,Active,Orphanet+OMIM,OMIM:614238,Subtype of disorder,[Disease subtype],Hypotrichosis 10,,"For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.",[614238],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:15783,Active,Orphanet+OMIM,OMIM:614250,Subtype of disorder,[Disease subtype],Narcolepsy 7,,,[614250],[2073],[Narcolepsy type 1],[7162],,,,, +GARD:15784,Active,Orphanet+OMIM,OMIM:614280,Subtype of disorder,[Disease subtype],"Epilepsy, juvenile myoclonic, susceptibility to, 9",,"For general phenotypic information and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}.",[614280],[307],[Juvenile myoclonic epilepsy],[6808],,,,, +GARD:15785,Active,Orphanet+OMIM,OMIM:614291,Subtype of disorder,[Disease subtype],"Breast-ovarian cancer, familial, susceptibility to, 4",,,[614291],[145],[Hereditary breast and ovarian cancer syndrome],[15010],,,,, +GARD:15786,Active,Orphanet+OMIM,OMIM:614305,Subtype of disorder,[Malformation syndrome subtype],Sclerosteosis 2,,"Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by {1:Brunkow et al., 2001}).\n\nFor a discussion of genetic heterogeneity of sclerosteosis, see SOST1 ({269500}).",[614305],[3152],[Sclerosteosis],[4771],,,,, +GARD:15787,Active,Orphanet+OMIM,OMIM:614307,Subtype of disorder,[Disease subtype],Alpha-methylacyl-coa racemase deficiency,[Amacr deficiency],"AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by {5:Smith et al., 2010}).",[614307],[79095],[Congenital bile acid synthesis defect type 4],[10046],,,,, +GARD:15788,Active,Orphanet+OMIM,OMIM:614320,Subtype of disorder,[Disease subtype],"Pancreatic cancer, susceptibility to, 4",,,[614320],[1333],[Familial pancreatic carcinoma],[4206],,,,, +GARD:15789,Active,Orphanet+OMIM,OMIM:614331,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 6","[Colon cancer, hereditary nonpolyposis, type 6]",,[614331],[144],[Lynch syndrome],[9905],,,,, +GARD:1579,Legacy,GARD,,,,,,,,,,,,Craniofrontonasal syndrome Teebi type,TRUE,FALSE,Active +GARD:15790,Active,Orphanet+OMIM,OMIM:614335,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, distal, type 1b",,,[614335],[1146],[Distal arthrogryposis type 1],[787],,,,, +GARD:15791,Active,Orphanet+OMIM,OMIM:614337,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 4",,,[614337],[144],[Lynch syndrome],[9905],,,,, +GARD:15792,Active,Orphanet+OMIM,OMIM:614350,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 5",,"Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by {2:Castellsague et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 ({120435}).",[614350],[144],[Lynch syndrome],[9905],,,,, +GARD:15793,Active,Orphanet+OMIM,OMIM:614370,Subtype of disorder,[Disease subtype],"Surfactant metabolism dysfunction, pulmonary, 5","[pap due to csf2rb deficiency, csf2rb deficiency, Pulmonary alveolar proteinosis 5]","Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis (PAP). PAP is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by {2:Greenhill and Kotton, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 ({265120}).",[614370],[264675],[Hereditary pulmonary alveolar proteinosis],[4582],,,,, +GARD:15794,Active,Orphanet+OMIM,OMIM:614373,Subtype of disorder,[Disease subtype],"Amyotrophic lateral sclerosis 16, juvenile",,,[614373],[300605],[Juvenile amyotrophic lateral sclerosis],[11901],,,,, +GARD:15795,Active,Orphanet+OMIM,OMIM:614376,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 5 with or without polydactyly,[Asphyxiating thoracic dystrophy 5],"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {3:Huber and Cormier-Daire, 2012} and {5:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[614376],[474],[Jeune syndrome],[3049],,,,, +GARD:15796,Active,Orphanet+OMIM,OMIM:614378,Subtype of disorder,[Malformation syndrome subtype],Cranioectodermal dysplasia 4,,"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by {1:Arts et al., 2011}).\n\nFor a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 ({218330}).",[614378],[1515],[Cranioectodermal dysplasia],[359],,,,, +GARD:15797,Active,Orphanet+OMIM,OMIM:614379,Subtype of disorder,[Disease subtype],Complement component 4b deficiency,[C4b deficiency],,[614379],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,,,, +GARD:15798,Active,Orphanet+OMIM,OMIM:614380,Subtype of disorder,[Disease subtype],Complement component 4a deficiency,[C4a deficiency],,[614380],[169147],[Immunodeficiency due to a classical component pathway complement deficiency],[15025],,,,, +GARD:15799,Active,Orphanet+OMIM,OMIM:614385,Subtype of disorder,[Disease subtype],"Colorectal cancer, hereditary nonpolyposis, type 7",,,[614385],[144],[Lynch syndrome],[9905],,,,, +GARD:158,Active,Orphanet,ORPHA:3129,Disorder,[Disease],Sarcosinemia,[Sarcosine dehydrogenase complex deficiency],A rare inborn error of metabolism characterized by increased concentrations of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.,[268900],,,,,Sarcosinemia,TRUE,FALSE,Active +GARD:15800,Active,Orphanet+OMIM,OMIM:614422,Subtype of disorder,[Clinical subtype],Cataract 37,,,[614422],[98989],[Cerulean cataract],[9508],,,,, +GARD:15801,Active,Orphanet+OMIM,OMIM:614424,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 14,,"Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by {1:Boycott et al., 2007} and {3:Huang et al., 2011}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[614424],"[475, 2318, 220493, 220497]","[Joubert syndrome with renal defect, Joubert syndrome with oculorenal defect, Joubert syndrome, Joubert syndrome with ocular defect]","[10168, 10169, 6802, 9455]",,,,, +GARD:15802,Active,Orphanet+OMIM,OMIM:614434,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal dominant 2",,"Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by {1:Markova et al., 2003}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 ({123700}).",[614434],[90348],[Autosomal dominant cutis laxa],[1639],,,,, +GARD:15803,Active,Orphanet+OMIM,OMIM:614435,Subtype of disorder,[Morphological anomaly subtype],Hypoplastic left heart syndrome 2,,"Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged ({1:Brekke, 1953}).\n\nFor a discussion of genetic heterogeneity of hypoplastic left heart syndrome, see HLHS1 ({241550}).",[614435],[2248],[Hypoplastic left heart syndrome],[6739],,,,, +GARD:15804,Active,Orphanet+OMIM,OMIM:614437,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal recessive, type ib",,"Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by {4:Hoyer et al., 2009}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100}).",[614437],[90349],[Autosomal recessive cutis laxa type 1],[8480],,,,, +GARD:15805,Active,Orphanet+OMIM,OMIM:614441,Subtype of disorder,[Malformation syndrome subtype],"Hypertrophic osteoarthropathy, primary, autosomal recessive, 2","[Pachydermoperiostosis, autosomal recessive, pdp, autosomal recessive]","Autosomal recessive primary hypertrophic osteoarthropathy-2 (PHOAR2) is a rare disorder characterized by digital clubbing, pachydermia, and periostosis. Pain and swelling of ankles and knees, watery diarrhea, and excessive sweating are often present. Males are more frequently and severely affected (summary by {9:Zhang et al., 2013}, {6:Li et al., 2017}).\n\nFor a discussion of genetic heterogeneity of PHO, see PHOAR1 ({259100}).",[614441],[2796],[Pachydermoperiostosis],[7299],,,,, +GARD:15806,Active,Orphanet+OMIM,OMIM:614464,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 15,,"Joubert syndrome-15 is an autosomal recessive developmental disorder characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation. Other features, such as polydactyly, breathing abnormalities, and oculomotor apraxia, are variable (summary by {1:Lee et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[614464],"[475, 220493]","[Joubert syndrome, Joubert syndrome with ocular defect]","[10168, 6802]",,,,, +GARD:15807,Active,Orphanet+OMIM,OMIM:614465,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 16,,"Joubert syndrome-16 is an autosomal recessive developmental disorder characterized by the molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement. The phenotype is indistinguishable from that of JBTS2 ({608091}) (summary by {1:Lee et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[614465],[2318],[Joubert syndrome with oculorenal defect],[9455],,,,, +GARD:15808,Active,Orphanet+OMIM,OMIM:614483,Subtype of disorder,[Etiological subtype],Brain small vessel disease 2,"[Porencephaly 2, formerly]","Brain small vessel disease-2 is an autosomal dominant disorder characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration. The disorder is often associated with 'porencephaly' on brain imaging. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by {2:Yoneda et al., 2012}).\n\nFor a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 ({175780}).",[614483],[99810],[Familial porencephaly],[2258],,,,, +GARD:15809,Active,Orphanet+OMIM,OMIM:614493,Subtype of disorder,[Disease subtype],Wiskott-aldrich syndrome 2,"[Wipf1 deficiency, wip deficiency]","Wiskott-Aldrich syndrome-2 (WAS2) is an autosomal recessive immunologic disorder characterized by onset of recurrent infections in infancy. Other features include thrombocytopenia with normal platelet volume and eczema. Laboratory studies show decreased CD8+ T cells, variably increased Ig, particularly IgE, low B cells, aberrant function of T and NK cells, and impaired T-cell migration. The cellular abnormalities are thought to result from defective F-actin polymerization. Death in early childhood may occur; hematopoietic stem cell transplantation is curative (summary by {3:Lanzi et al., 2012}).\n\nFor a discussion of genetic heterogeneity of Wiskott-Aldrich syndrome, see WAS ({301000}).",[614493],[906],[Wiskott-Aldrich syndrome],[7895],,,,, +GARD:1581,Active,Orphanet+OMIM,OMIM:123000,Subtype of disorder,[Malformation syndrome subtype],"Craniometaphyseal dysplasia, autosomal dominant","[craniometaphyseal dysplasia, jackson type, Cmd]","Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, which may finally result in hearing loss and facial palsy (summary by {16:Nurnberg et al., 1997}).\n\nThe delineation of separate autosomal dominant and autosomal recessive (CMDR; {218400}) forms of CMD by {7:Gorlin et al. (1969)} was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.",[123000],[1522],[Craniometaphyseal dysplasia],[15013],,"Craniometaphyseal dysplasia, autosomal dominant",TRUE,FALSE,Active +GARD:15810,Active,Orphanet+OMIM,OMIM:614494,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 63,,"For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[614494],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15811,Active,Orphanet+OMIM,OMIM:614497,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 7",,,[614497],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:15812,Active,Orphanet+OMIM,OMIM:614500,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 16,[Retinal dystrophy with early macular involvement],"Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by {1:Estrada-Cuzcano et al., 2012}).",[614500],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15813,Active,Orphanet+OMIM,OMIM:614504,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iiib",,"Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life ({1:Karjalainen et al., 1985}; {2:Pakarinen et al., 1995}).\n\nFor a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A ({276902}).",[614504],[231183],[Usher syndrome type 3],[5442],,,,, +GARD:15814,Active,Orphanet+OMIM,OMIM:614508,Subtype of disorder,[Disease subtype],Mirror movements 2,,"Mirror movements are involuntary movements of a side of the body that mirror intentional movements on the opposite side. Mild mirror movements are physiologic in young children and gradually disappear within the first decade of life, likely due to maturation of the motor network. Mirror movements that persist beyond age 10 years represent a rare disorder usually showing autosomal dominant inheritance with incomplete penetrance (summary by {1:Depienne et al., 2012}).\n\nFor a discussion of genetic heterogeneity of mirror movements, see MRMV1 ({157600}).",[614508],[238722],[Familial congenital mirror movements],[12551],,,,, +GARD:15815,Active,Orphanet+OMIM,OMIM:614524,Subtype of disorder,[Disease subtype],Fibrochondrogenesis 2,,"Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by {1:Tompson et al., 2012}).\n\nFor a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 ({228520}).",[614524],[2021],[Fibrochondrogenesis],[2321],,,,, +GARD:15816,Active,Orphanet+OMIM,OMIM:614565,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1e","[Csnb, complete, autosomal recessive]","Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Individuals with cCSNB and animal models of the disorder have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells (summary by {3:Peachey et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A ({310500}).",[614565],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:15817,Active,Orphanet+OMIM,OMIM:614583,Subtype of disorder,[Malformation syndrome subtype],Baraitser-winter syndrome 2,,,[614583],[2995],[Baraitser-Winter cerebrofrontofacial syndrome],[5279],,,,, +GARD:15818,Active,Orphanet+OMIM,OMIM:614594,Subtype of disorder,[Disease subtype],Olmsted syndrome 1,"[Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1]","Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by {6:Lin et al., 2012}). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes ({8:Olmsted, 1927}).\n\n<Subhead> Genetic Heterogeneity of Olmsted Syndrome\n\nOLMS2 ({619208}) is caused by mutation in the PERP gene ({609301}) on chromosome 6q23.\n\nAn X-linked form of Olmsted syndrome (OLMSX; {300918}) is caused by mutation in the MBTPS2 gene ({300294}) on chromosome Xp22.",[614594],[659],[Mutilating palmoplantar keratoderma with periorificial keratotic plaques],[4075],,,,, +GARD:15819,Active,Orphanet+OMIM,OMIM:614602,Subtype of disorder,[Disease subtype],Trichohepatoenteric syndrome 2,,"Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by {2:Fabre et al., 2012}).\n\nFor a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 ({222470}).",[614602],[84064],[Syndromic diarrhea],[5258],,,,, +GARD:1582,Active,Orphanet+OMIM,OMIM:218400,Subtype of disorder,[Malformation syndrome subtype],"Craniometaphyseal dysplasia, autosomal recessive",,"Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by {10:Nurnberg et al., 1997}).\n\nThe delineation of separate autosomal dominant (CMDD; {123000}) and autosomal recessive forms of CMD by {2:Gorlin et al. (1969)} was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, whereas the recessive form is rare, severe, and possibly heterogeneous.",[218400],[1522],[Craniometaphyseal dysplasia],[15013],,"Craniometaphyseal dysplasia, autosomal recessive type",TRUE,FALSE,Active +GARD:15820,Active,Orphanet+OMIM,OMIM:614607,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 2,"[Mental retardation, autosomal dominant 14]","Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by {3:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).\n\nThe chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.",[614607],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:15821,Active,Orphanet+OMIM,OMIM:614608,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 3,"[Mental retardation, autosomal dominant 15]","Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by {2:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[614608],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:15822,Active,Orphanet+OMIM,OMIM:614609,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 4,"[Mental retardation, autosomal dominant 16]","Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by {1:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[614609],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:15823,Active,Orphanet+OMIM,OMIM:614613,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]",Acrodysostosis 2 with or without hormone resistance,,"Acrodysostosis-2 (ACRDYS2) is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by {5:Michot et al., 2012} and {2:Lee et al., 2012}).\n\nFor a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 ({101800}).",[614613],"[280651, 950]","[Acrodysostosis with multiple hormone resistance, Acrodysostosis]","[5724, 17300]",,,,, +GARD:15824,Active,Orphanet+OMIM,OMIM:614615,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 17,,,[614615],[475],[Joubert syndrome],[6802],,,,, +GARD:15825,Active,Orphanet+OMIM,OMIM:614618,Subtype of disorder,[Disease subtype],Hyperekplexia 3,,,[614618],[3197],[Hereditary hyperekplexia],[3129],,,,, +GARD:15826,Active,Orphanet+OMIM,OMIM:614619,Subtype of disorder,[Disease subtype],Hyperekplexia 2,,,[614619],[3197],[Hereditary hyperekplexia],[3129],,,,, +GARD:15827,Active,Orphanet+OMIM,OMIM:614621,Subtype of disorder,[Disease subtype],Uv-sensitive syndrome 2,,"UV-sensitive syndrome-2 (UVSS2) is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by {1:Nardo et al., 2009}).\n\nSee also Cockayne syndrome type A (CSA; {216400}), an allelic disorder with a more severe phenotype including neurologic symptoms and skeletal abnormalities.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 ({600630}).",[614621],[178338],[UV-sensitive syndrome],[10947],,,,, +GARD:15828,Active,Orphanet+OMIM,OMIM:614640,Subtype of disorder,[Disease subtype],Uv-sensitive syndrome 3,,"UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by {4:Itoh et al., 1994} and {7:Nakazawa et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 ({600630}).",[614640],[178338],[UV-sensitive syndrome],[10947],,,,, +GARD:15829,Active,Orphanet+OMIM,OMIM:614643,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7","[Walker-warburg syndrome or muscle-eye-brain disease, ispd-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {3:Roscioli et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[614643],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:1583,Active,Orphanet,ORPHA:1524,Disorder,[Malformation syndrome],Craniomicromelic syndrome,,"A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.",[602558],,,,,Craniomicromelic syndrome,TRUE,FALSE,Active +GARD:15830,Active,Orphanet+OMIM,OMIM:614662,Subtype of disorder,[Malformation syndrome subtype],Cortisone reductase deficiency 2,,"Cortisone reductase deficiency is a disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase, encoded by the HSD11B1 gene. Purified 11-beta-HSD acts readily as a dehydrogenase, inactivating cortisol to cortisone; however, in the presence of a high NADPH/NADP+ ratio, generated in vivo through the activity of microsomal hexose-6-phosphate dehydrogenase (H6PD; {138090}), 11-beta-HSD switches to ketoreductase activity and generates active glucocorticoid. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting later with hirsutism, oligomenorrhea, and infertility. Biochemically, CORTRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE), which in CORTRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by {1:Lawson et al., 2011}).\n\nFor a discussion of genetic heterogeneity of cortisone reductase deficiency, see CORTRD1 ({604931}).",[614662],[168588],[Hyperandrogenism due to cortisone reductase deficiency],[9882],,,,, +GARD:15831,Active,Orphanet+OMIM,OMIM:614669,Subtype of disorder,[Malformation syndrome subtype],Auriculocondylar syndrome 2,,"Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by {5:Rieder et al., 2012}).\n\nFor a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 ({602483}).",[614669],[137888],[Auriculocondylar syndrome],[9798],,,,, +GARD:15832,Active,Orphanet+OMIM,OMIM:614672,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 2b",,,[614672],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15833,Active,Orphanet+OMIM,OMIM:614673,Subtype of disorder,[Etiological subtype],"Microcephaly 8, primary, autosomal recessive",,,[614673],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15834,Active,Orphanet+OMIM,OMIM:614678,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1b",,"Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by {9:Wan et al., 2012}). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by {3:Halevy et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[614678],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:15835,Active,Orphanet+OMIM,OMIM:614679,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 17","[Ciliary dyskinesia, primary, 17, with or without situs inversus]","Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by {2:Panizzi et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[614679],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15836,Active,Orphanet+OMIM,OMIM:614699,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 7",,,[614699],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15837,Active,Orphanet+OMIM,OMIM:614701,Subtype of disorder,[Malformation syndrome subtype],Cornelia de lange syndrome 4 with or without midline brain defects,,,[614701],[199],[Cornelia de Lange syndrome],[10109],,,,, +GARD:15838,Active,Orphanet+OMIM,OMIM:614714,Subtype of disorder,[Disease subtype],"Porokeratosis 7, multiple types",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({2:Schamroth et al., 1997}). However, as noted by {3:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the MVD gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), solar facial porokeratosis, linear porokeratosis, and hyperkeratotic porokeratosis.\n\nThe preferred title of this entry was formerly 'Porokeratosis 7, Disseminated Superficial Actinic Type; POROK7.'\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[614714],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:15839,Active,Orphanet+OMIM,OMIM:614731,Subtype of disorder,[Disease subtype],"Prostate cancer, hereditary, 2",,,[614731],[1331],[Familial prostate cancer],[4520],,,,, +GARD:1584,Legacy,GARD,,,,,,,,,,,,Craniostenosis cataract,TRUE,FALSE,Active +GARD:15840,Active,Orphanet+OMIM,OMIM:614736,Subtype of disorder,[Disease subtype],Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency,,"Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by {3:Meimaridou et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200}).",[614736],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:15841,Active,Orphanet+OMIM,OMIM:614808,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 18,,,[614808],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15842,Active,Orphanet+OMIM,OMIM:614814,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 3,,"{1:Hassed et al. (2012)} described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[614814],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:15843,Active,Orphanet+OMIM,OMIM:614815,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 18,,,[614815],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:15844,Active,Orphanet+OMIM,OMIM:614819,Subtype of disorder,[Malformation syndrome subtype],Weill-marchesani syndrome 3,,"Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities ({1:Faivre et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}.",[614819],[3449],[Weill-Marchesani syndrome],[4936],,,,, +GARD:15845,Active,Orphanet+OMIM,OMIM:614820,Subtype of disorder,[Disease subtype],Alternating hemiplegia of childhood 2,,"Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by {2:Heinzen et al., 2012}).\n\nFor a discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 ({104290}).",[614820],[2131],[Alternating hemiplegia of childhood],[11],,,,, +GARD:15846,Active,Orphanet+OMIM,OMIM:614830,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8","[Walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by {1:Manzini et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[614830],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:15847,Active,Orphanet+OMIM,OMIM:614832,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia4",,,[614832],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:15848,Active,Orphanet+OMIM,OMIM:614834,Subtype of disorder,[Disease subtype],"Thyrotoxic periodic paralysis, susceptibility to, 3",,"For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to thyrotoxic periodic paralysis, see {188580}.",[614834],[79102],[Thyrotoxic periodic paralysis],[10814],,,,, +GARD:15849,Active,Orphanet+OMIM,OMIM:614837,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 8 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {6:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[614837],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:1585,Legacy,GARD,,,,,,,,,,,,Craniostenosis with congenital heart disease mental retardation,TRUE,FALSE,Retired +GARD:15850,Active,Orphanet+OMIM,OMIM:614838,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 9 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {3:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614838],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15851,Active,Orphanet+OMIM,OMIM:614840,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 11 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614840],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15852,Active,Orphanet+OMIM,OMIM:614845,Subtype of disorder,[Disease subtype],Nephronophthisis 15,,,[614845],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:15853,Active,Orphanet+OMIM,OMIM:614849,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5","[Herpes simplex encephalitis, susceptibility to, 3]",,[614849],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:15854,Active,Orphanet+OMIM,OMIM:614850,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6","[Herpes simplex encephalitis, susceptibility to, 4]",,[614850],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:15855,Active,Orphanet+OMIM,OMIM:614852,Subtype of disorder,[Etiological subtype],"Microcephaly 9, primary, autosomal recessive",,"Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance ({5:Woods et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[614852],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:15856,Active,Orphanet+OMIM,OMIM:614856,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xiii","[Oi, type xiii]","Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {6:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}). {4:Martinez-Glez et al. (2012)} described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.",[614856],[216812],[Osteogenesis imperfecta type 3],[8695],,,,, +GARD:15857,Active,Orphanet+OMIM,OMIM:614858,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 14 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {3:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614858],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15858,Active,Orphanet+OMIM,OMIM:614859,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 3a (zellweger),,"The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {5:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.",[614859],[912],[Zellweger syndrome],[7917],,,,, +GARD:15859,Active,Orphanet+OMIM,OMIM:614862,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 4a (zellweger),,"The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {2:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see {214100}.",[614862],[912],[Zellweger syndrome],[7917],,,,, +GARD:1586,Legacy,GARD,,,,,,,,,,,,Craniosynostosis alopecia brain defect,TRUE,FALSE,Active +GARD:15860,Active,Orphanet+OMIM,OMIM:614863,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 4b,,"Peroxisome biogenesis disorder-4B (PBD4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {5:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see {214100}.",[614863],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15861,Active,Orphanet+OMIM,OMIM:614866,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 5a (zellweger),,"The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {4:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.",[614866],[912],[Zellweger syndrome],[7917],,,,, +GARD:15862,Active,Orphanet+OMIM,OMIM:614867,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 5b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {6:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.",[614867],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15863,Active,Orphanet+OMIM,OMIM:614869,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ij",,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({2:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900}).",[614869],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:15864,Active,Orphanet+OMIM,OMIM:614870,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 6a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {4:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 7 (CG7, equivalent to CGB) have mutations in the PEX10 gene. For information on the history of PBD complementation groups, see {214100}.",[614870],[912],[Zellweger syndrome],[7917],,,,, +GARD:15865,Active,Orphanet+OMIM,OMIM:614871,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 6b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by {5:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see {214100}.",[614871],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15866,Active,Orphanet+OMIM,OMIM:614872,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 7a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}.",[614872],[912],[Zellweger syndrome],[7917],,,,, +GARD:15867,Active,Orphanet+OMIM,OMIM:614873,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 7b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {3:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see {214100}.",[614873],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15868,Active,Orphanet+OMIM,OMIM:614874,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 18","[Ciliary dyskinesia, primary, 18, with or without situs inversus]","Primary ciliary dyskinesia-18 is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by {1:Horani et al., 2012}).",[614874],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15869,Active,Orphanet+OMIM,OMIM:614876,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 8a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see {214100}.",[614876],[912],[Zellweger syndrome],[7917],,,,, +GARD:1587,Legacy,GARD,,,,,,,,,,,,Craniosynostosis arthrogryposis cleft palate,TRUE,FALSE,Active +GARD:15870,Active,Orphanet+OMIM,OMIM:614877,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 8b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {3:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see {214100}.",[614877],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15871,Active,Orphanet+OMIM,OMIM:614879,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 9b,"[Refsum disease, adult, 2, peroxisome biogenesis disorder, pex7-related, atypical]","While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1; {215100}), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia ({2:Braverman et al., 2002}). In some cases this phenotype was indistinguishable from that of classic Refsum disease ({266500}) and patients carried this diagnosis.\n\nIndividuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.",[614879],[773],[Refsum disease],[5691],,,,, +GARD:15872,Active,Orphanet+OMIM,OMIM:614880,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 15 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of the genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[614880],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15873,Active,Orphanet+OMIM,OMIM:614882,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 10a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.",[614882],[912],[Zellweger syndrome],[7917],,,,, +GARD:15874,Active,Orphanet+OMIM,OMIM:614883,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 11a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.",[614883],[912],[Zellweger syndrome],[7917],,,,, +GARD:15875,Active,Orphanet+OMIM,OMIM:614885,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 11b,,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {4:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see {214100}.",[614885],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15876,Active,Orphanet+OMIM,OMIM:614886,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 12a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {4:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.",[614886],[912],[Zellweger syndrome],[7917],,,,, +GARD:15877,Active,Orphanet+OMIM,OMIM:614887,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 13a (zellweger),,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.",[614887],[912],[Zellweger syndrome],[7917],,,,, +GARD:15878,Active,Orphanet+OMIM,OMIM:614897,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 16 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {3:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[614897],[478],[Kallmann syndrome],[10771],,,,, +GARD:15879,Active,Orphanet+OMIM,OMIM:614900,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 11,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {6:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[614900],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:1588,Legacy,GARD,,,,,,,,,,,,Craniosynostosis autosomal dominant,TRUE,FALSE,Active +GARD:15880,Active,Orphanet+OMIM,OMIM:614916,Subtype of disorder,[Disease subtype],"Ventricular tachycardia, catecholaminergic polymorphic, 4",,,[614916],[3286],[Catecholaminergic polymorphic ventricular tachycardia],[4421],,,,, +GARD:15881,Active,Orphanet+OMIM,OMIM:614920,Subtype of disorder,[Disease subtype],Peroxisome biogenesis disorder 14b,,"PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy ({1:Ebberink et al., 2012}), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., {2:Kelley et al., 1986}; {4:Poll-The et al., 1987}). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.\n\n{5:Thoms and Gartner (2012)} classified the disorder described by {1:Ebberink et al. (2012)} in their patient as a mild 'Zellweger syndrome ({214100}) spectrum' (ZSS) disorder. See PBD1B ({601539}) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B ({614879}) for another atypical peroxisome biogenesis disorder.",[614920],"[772, 44]","[Infantile Refsum disease, Neonatal adrenoleukodystrophy]","[4648, 559]",,,,, +GARD:15882,Active,Orphanet+OMIM,OMIM:614926,Subtype of disorder,[Disease subtype],Perrault syndrome 2,,"Perrault syndrome-2 is an autosomal recessive disorder characterized by sensorineural deafness in both males and females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile (summary by {2:Pierce et al., 2011}).\n\nFor a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 ({233400}).",[614926],[2855],[Perrault syndrome],[2542],,,,, +GARD:15883,Active,Orphanet+OMIM,OMIM:614935,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 19","[Ciliary dyskinesia, primary, 19, with or without situs inversus]","Primary ciliary dyskinesia-19 is an autosomal recessive ciliopathy characterized by chronic sinopulmonary infections, asthenospermia, and immotile cilia. Respiratory epithelial cells and sperm flagella of affected individuals lack both the inner and outer dynein arms. About 50% of patients have situs inversus (summary by {1:Kott et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[614935],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15884,Active,Orphanet+OMIM,OMIM:614936,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma, punctate type ib",,"For a general phenotypic description and a discussion of genetic heterogeneity of the punctate type of palmoplantar keratoderma, see PPKP1A ({148600}).",[614936],[79501],[Punctate palmoplantar keratoderma type 1],[3103],,,,, +GARD:15885,Active,Orphanet+OMIM,OMIM:614941,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive","[Ectodermal dysplasia, hypohidrotic, ectodermal dysplasia, anhidrotic]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {3:Cluzeau et al., 2011}).",[614941],[248],[Autosomal recessive hypohidrotic ectodermal dysplasia],[2057],,,,, +GARD:15886,Active,Orphanet+OMIM,OMIM:614959,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 14,"[Epileptic encephalopathy, early infantile, 14]","Developmental and epileptic encephalopathy-14 (DEE14) is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by {1:Barcia et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[614959],[293181],[Malignant migrating focal seizures of infancy],[12919],,,,, +GARD:15887,Active,Orphanet+OMIM,OMIM:614970,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 20,,,[614970],"[475, 220493]","[Joubert syndrome, Joubert syndrome with ocular defect]","[10168, 6802]",,,,, +GARD:15888,Active,Orphanet+OMIM,OMIM:614972,Subtype of disorder,[Disease subtype],"Cholestasis, intrahepatic, of pregnancy 3",,"Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Women with ICP are also susceptible to oral contraceptive-induced cholestasis (OCIC). Ursodeoxycholic acid (UDCA) is an effective treatment for conditions caused by ABCB4 mutations (summary by {5:Pasmant et al., 2012}).\n\nMutation in the ABCB4 gene accounts for about 15% of ICP cases (summary by {7:Ziol et al., 2008}).\n\nFor a discussion of genetic heterogeneity of ICP, see ICP1 ({147480}).",[614972],[69665],[Intrahepatic cholestasis of pregnancy],[9804],,,,, +GARD:15889,Active,Orphanet+OMIM,OMIM:614976,Subtype of disorder,[Malformation syndrome subtype],Carpenter syndrome 2,,"Carpenter syndrome-2 (CRPT2) is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by {2:Twigg et al., 2012}).\n\nFor a discussion of genetic heterogeneity of Carpenter syndrome, see {201000}.",[614976],[65759],[Carpenter syndrome],[6003],,,,, +GARD:15890,Active,Orphanet+OMIM,OMIM:614990,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ik",,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({2:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900}).",[614990],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:15891,Active,Orphanet+OMIM,OMIM:615005,Subtype of disorder,[Disease subtype],"Epilepsy, nocturnal frontal lobe, 5",,"Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by {2:Heron et al., 2012}).\n\nFor a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 ({600513}).",[615005],[98784],[Autosomal dominant nocturnal frontal lobe epilepsy],[11918],,,,, +GARD:15892,Active,Orphanet+OMIM,OMIM:615006,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 15,"[Epileptic encephalopathy, early infantile, 15]",,[615006],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:15893,Active,Orphanet+OMIM,OMIM:615007,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, 4",,"Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by {1:Nicolas et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600}).",[615007],[1980],[Bilateral striopallidodentate calcinosis],[6406],,,,, +GARD:15894,Active,Orphanet+OMIM,OMIM:615010,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 6,,,[615010],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:15895,Active,Orphanet+OMIM,OMIM:615022,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 7",,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {4:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({8:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {3:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[615022],[79394],[Congenital non-bullous ichthyosiform erythroderma],[9736],,,,, +GARD:15896,Active,Orphanet+OMIM,OMIM:615023,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 9",,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({7:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[615023],[79394],[Congenital non-bullous ichthyosiform erythroderma],[9736],,,,, +GARD:15897,Active,Orphanet+OMIM,OMIM:615024,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 10",,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {7:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({2:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({10:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {6:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {9:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {4:Eckl et al., 2005}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[615024],[79394],[Congenital non-bullous ichthyosiform erythroderma],[9736],,,,, +GARD:15898,Active,Orphanet+OMIM,OMIM:615041,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10","[Walker-warburg syndrome or muscle-eye-brain disease, tmem5-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {2:Vuillaumier-Barrot et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[615041],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:15899,Active,Orphanet+OMIM,OMIM:615058,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1f",,,[615058],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:159,Active,Orphanet,ORPHA:2036,Disorder,[Malformation syndrome],Scalp-ear-nipple syndrome,[Finlay-Marks syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.",[181270],,,,,Scalp ear nipple syndrome,TRUE,FALSE,Active +GARD:1590,Legacy,GARD,,,,,,,,,,,,Craniosynostosis cleft lip palate arthrogryposis,TRUE,FALSE,Active +GARD:15900,Active,Orphanet+OMIM,OMIM:615059,Subtype of disorder,[Disease subtype],Hypotrichosis 11,,,[615059],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:15901,Active,Orphanet+OMIM,OMIM:615066,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xiv","[Oi, type xiv]","Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {2:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}).\n\n{1:Shaheen et al. (2012)} described osteogenesis imperfecta type XIV (OI14), an autosomal recessive form of the disorder characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.",[615066],[216820],[Osteogenesis imperfecta type 4],[8696],,,,, +GARD:15902,Active,Orphanet+OMIM,OMIM:615067,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 20","[Ciliary dyskinesia, primary, 20, with or without situs inversus]","CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615067],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15903,Active,Orphanet+OMIM,OMIM:615072,Subtype of disorder,[Malformation syndrome subtype],"Brachydactyly, type a1, c",,,[615072],[93388],[Brachydactyly type A1],[978],,,,, +GARD:15904,Active,Orphanet+OMIM,OMIM:615081,Subtype of disorder,[Disease subtype],Spermatogenic failure 11,,,[615081],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15905,Active,Orphanet+OMIM,OMIM:615085,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 8",,,[615085],[667],[Autosomal recessive malignant osteopetrosis],[15012],,,,, +GARD:15906,Active,Orphanet+OMIM,OMIM:615092,Subtype of disorder,[Disease subtype],Left ventricular noncompaction 7,,,[615092],[54260],[Left ventricular noncompaction],[10985],,,,, +GARD:15907,Active,Orphanet+OMIM,OMIM:615112,Subtype of disorder,[Malformation syndrome subtype],Urofacial syndrome 2,,"Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by {1:Stuart et al., 2013}).\n\nFor a discussion of genetic heterogeneity of UFS, see UFS1 ({236730}).",[615112],[2704],[Ochoa syndrome],[104],,,,, +GARD:15908,Active,Orphanet+OMIM,OMIM:615120,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 8","[Myasthenic syndrome, congenital, with pre- and postsynaptic defects, myasthenic syndrome, congenital, due to agrin deficiency]","Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by {3:Maselli et al., 2012}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[615120],"[98913, 98914]","[Presynaptic congenital myasthenic syndromes, Postsynaptic congenital myasthenic syndromes]","[15022, 15023]",,,,, +GARD:15909,Active,Orphanet+OMIM,OMIM:615145,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 9",,"MCOPCB9 is characterized by isolated microphthalmia and coloboma ({1:Aldahmesh et al., 2012}). MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis ({2:Chassaing et al., 2016}; {4:Stephen et al., 2018}; {3:Singh et al., 2019}).",[615145],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:1591,Legacy,GARD,,,,,,,,,,,,Craniosynostosis contractures cleft,TRUE,FALSE,Active +GARD:15910,Active,Orphanet+OMIM,OMIM:615157,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 2",,"Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by {2:Ghezzi et al., 2011}). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances ({3:Morino et al., 2014}; {1:Atwal, 2014}; {4:Nogueira et al., 2013}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 ({124000}).",[615157],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15911,Active,Orphanet+OMIM,OMIM:615158,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 3",,,[615158],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15912,Active,Orphanet+OMIM,OMIM:615159,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 4",,,[615159],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15913,Active,Orphanet+OMIM,OMIM:615160,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 5",,,[615160],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15914,Active,Orphanet+OMIM,OMIM:615163,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 17,,"For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see {120970}.",[615163],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15915,Active,Orphanet+OMIM,OMIM:615181,Subtype of disorder,"[Disease subtype, Malformation syndrome subtype]","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11","[Walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {2:Stevens et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[615181],"[899, 588]","[Muscle-eye-brain disease, Walker-Warburg syndrome]","[2599, 156]",,,,, +GARD:15916,Active,Orphanet+OMIM,OMIM:615184,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1ii",,,[615184],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15917,Active,Orphanet+OMIM,OMIM:615190,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 5",,"Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by {5:Walne et al., 2013}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[615190],"[1775, 3322]","[Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome]","[10905, 346]",,,,, +GARD:15918,Active,Orphanet+OMIM,OMIM:615214,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 7, autosomal recessive","[Agammaglobulinemia, autosomal recessive, due to pik3r1 defect]",,[615214],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:15919,Active,Orphanet+OMIM,OMIM:615220,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xv","[Oi, type xv]","Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {8:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}). {4:Keupp et al. (2013)} and {7:Pyott et al. (2013)} described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.",[615220],"[216820, 216812]","[Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[8695, 8696]",,,,, +GARD:1592,Legacy,GARD,,,,,,,,,,,,Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus,TRUE,FALSE,Active +GARD:15920,Active,Orphanet+OMIM,OMIM:615221,Subtype of disorder,[Malformation syndrome subtype],Bone mineral density quantitative trait locus 16,"[Osteoporosis, early-onset, susceptibility to]",,[615221],[85193],[Idiopathic juvenile osteoporosis],[6760],,,,, +GARD:15921,Active,Orphanet+OMIM,OMIM:615222,Subtype of disorder,[Disease subtype],Smith-mccort dysplasia 2,,"Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC; {223800}), which is distinguished from SMC by the additional feature of mental retardation (summary by {2:Dupuis et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 ({607326}).",[615222],[178355],[Smith-McCort dysplasia],[10620],,,,, +GARD:15922,Active,Orphanet+OMIM,OMIM:615224,Subtype of disorder,[Disease subtype],"Advanced sleep phase syndrome, familial, 2",,"Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by {2:Jones et al., 1999}).\n\nFor a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 ({604348}).",[615224],[164736],[Familial advanced sleep-phase syndrome],[9242],,,,, +GARD:15923,Active,Orphanet+OMIM,OMIM:615233,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 66,,,[615233],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15924,Active,Orphanet+OMIM,OMIM:615235,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1jj",,,[615235],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15925,Active,Orphanet+OMIM,OMIM:615244,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 8",,,[615244],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:15926,Active,Orphanet+OMIM,OMIM:615248,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1kk",,,[615248],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:15927,Active,Orphanet+OMIM,OMIM:615249,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12","[Walker-warburg syndrome or muscle-eye-brain disease, pomk-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as dystroglycanopathies (summary by {3:Stevens et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[615249],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:15928,Active,Orphanet+OMIM,OMIM:615266,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 17 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615266],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15929,Active,Orphanet+OMIM,OMIM:615267,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 18 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615267],[478],[Kallmann syndrome],[10771],,,,, +GARD:1593,Legacy,GARD,,,,,,,,,,,,Craniosynostosis exostoses nevus epibulbar dermoid,TRUE,FALSE,Active +GARD:15930,Active,Orphanet+OMIM,OMIM:615268,Subtype of disorder,[Disease subtype],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4",[Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4],"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by {1:Gulsuner et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 ({224050}).",[615268],[1766],[Dysequilibrium syndrome],[1998],,,,, +GARD:15931,Active,Orphanet+OMIM,OMIM:615269,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 19 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615269],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15932,Active,Orphanet+OMIM,OMIM:615270,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 20 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615270],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,,,, +GARD:15933,Active,Orphanet+OMIM,OMIM:615271,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 21 with or without anosmia,,"Hypogonadotropic hypogonadism-21 (HH21) is characterized by partial or absent puberty in anosmic patients, in association with small testicular volumes in men and primary amenorrhea in women. Low bone mass has also been reported in some patients ({1:Miraoui et al., 2013}).\n\nCongenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[615271],[478],[Kallmann syndrome],[10771],,,,, +GARD:15934,Active,Orphanet+OMIM,OMIM:615272,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group q",,"Fanconi anemia (FA) is a rare genomic instability disorder characterized by bone marrow failure, congenital malformations, hypersensitivity to DNA interstrand crosslink-inducing agents, chromosome fragility, and high susceptibility to cancer (summary by {1:Bogliolo et al., 2013}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[615272],[84],[Fanconi anemia],[6425],,,,, +GARD:15935,Active,Orphanet+OMIM,OMIM:615278,Subtype of disorder,[Malformation syndrome subtype],Cardiofaciocutaneous syndrome 2,,"Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by {3:Niihori et al., 2006}). In a phenotypic comparison of BRAF ({164757})-positive and KRAS-positive individuals with CFC, {3:Niihori et al. (2006)} observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutations.",[615278],[1340],[Cardiofaciocutaneous syndrome],[9146],,,,, +GARD:15936,Active,Orphanet+OMIM,OMIM:615279,Subtype of disorder,[Malformation syndrome subtype],Cardiofaciocutaneous syndrome 3,,"Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures ({3:Schulz et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of cardiofaciocutaneous syndrome, see CFC1 ({115150}).",[615279],[1340],[Cardiofaciocutaneous syndrome],[9146],,,,, +GARD:15937,Active,Orphanet+OMIM,OMIM:615280,Subtype of disorder,[Malformation syndrome subtype],Cardiofaciocutaneous syndrome 4,,"Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by {2:Rauen et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of cardiofaciocutaneous syndrome, see CFC1 ({115150}).",[615280],[1340],[Cardiofaciocutaneous syndrome],[9146],,,,, +GARD:15938,Active,Orphanet+OMIM,OMIM:615287,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13","[Walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as dystroglycanopathies (summary by {1:Buysse et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[615287],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:15939,Active,Orphanet+OMIM,OMIM:615293,Subtype of disorder,[Disease subtype],"Myofibromatosis, infantile, 2",,"Infantile myofibromatosis is a disorder of mesenchymal proliferation characterized by the development of benign tumors in the skin, muscle, bone, and viscera. Soft tissue lesions may regress spontaneously. Visceral lesions are associated with high morbidity and mortality (summary by {1:Martignetti et al., 2013}).\n\nFor a discussion of genetic heterogeneity of infantile myofibromatosis, see IMF1 ({228550}).",[615293],[2591],[Infantile myofibromatosis],[2998],,,,, +GARD:15940,Active,Orphanet+OMIM,OMIM:615294,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 21","[Ciliary dyskinesia, primary, 21, without situs inversus]","Primary ciliary dyskinesia-21 (CILD21) is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by {2:Wirschell et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[615294],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15941,Active,Orphanet+OMIM,OMIM:615297,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 4,,"Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by {2:Shaheen et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[615297],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:15942,Active,Orphanet+OMIM,OMIM:615298,Subtype of disorder,[Malformation syndrome subtype],"Symphalangism, proximal, 1b",,,[615298],[3250],[Proximal symphalangism],[8182],,,,, +GARD:15943,Active,Orphanet+OMIM,OMIM:615300,Subtype of disorder,[Disease subtype],Perrault syndrome 4,,"Perrault syndrome-4 (PRLTS4) is an autosomal recessive disorder primarily characterized by early-onset sensorineural hearing loss in both males and females, and premature ovarian failure (POF) in females. Affected individuals may also develop neurologic involvement, including developmental delay or learning difficulties in childhood or onset of progressive movement abnormalities, such as spasticity, in adulthood. Brain imaging may show progressive leukodystrophy (summary by {3:Pierce et al., 2013}, {2:Kosaki et al., 2018} and {6:van der Knaap et al., 2019}).\n\nFor a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 ({233400}).",[615300],[2855],[Perrault syndrome],[2542],,,,, +GARD:15944,Active,Orphanet+OMIM,OMIM:615327,Subtype of disorder,[Disease subtype],Dowling-degos disease 2,,"Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by {1:Li et al., 2013}).\n\n<Subhead> Review of Reticulate Pigment Disorders\n\n{2:Muller et al. (2012)} reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK), reticulate acropigmentation of Dohi (DSH, RAD; {127400}), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. {2:Muller et al. (2012)} also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). {2:Muller et al. (2012)} concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity.\n\nFor a discussion of genetic heterogeneity of reticulate pigment disorders, see {179850}.",[615327],[79145],[Dowling-Degos disease],[9775],,,,, +GARD:15945,Active,Orphanet+OMIM,OMIM:615338,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 16,"[Epileptic encephalopathy, early infantile, 16]","Developmental and epileptic encephalopathy-16 (DEE16) is a severe autosomal recessive neurologic disorder characterized by the onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood (summary by {1:Duru et al., 2010} and {3:Milh et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615338],[293181],[Malignant migrating focal seizures of infancy],[12919],,,,, +GARD:15946,Active,Orphanet+OMIM,OMIM:615348,Subtype of disorder,[Disease subtype],Nemaline myopathy 8,,"Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by {2:Ravenscroft et al., 2013}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800}).",[615348],[171430],[Severe congenital nemaline myopathy],[12821],,,,, +GARD:15947,Active,Orphanet+OMIM,OMIM:615349,Subtype of disorder,[Clinical subtype],"Ehlers-danlos syndrome, spondylodysplastic type, 2","[Ehlers-danlos syndrome, progeroid type, 2, formerly]","The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin ({2:Okajima et al., 1999}).\n\nFor a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.",[615349],[75496],[B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome],[9991],,,,, +GARD:15948,Active,Orphanet+OMIM,OMIM:615350,Subtype of disorder,[Malformation syndrome subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14","[Walker-warburg syndrome or muscle-eye-brain disease, gmppb-related]",,[615350],[588],[Muscle-eye-brain disease],[156],,,,, +GARD:15949,Active,Orphanet+OMIM,OMIM:615355,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 8,,"Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by {1:Aoki et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[615355],[648],[Noonan syndrome],[10955],,,,, +GARD:1595,Legacy,GARD,,,,,,,,,,,,Craniosynostosis Fontaine type,TRUE,FALSE,Active +GARD:15950,Active,Orphanet+OMIM,OMIM:615360,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 17,,,[615360],[65],[Leber congenital amaurosis],[634],,,,, +GARD:15951,Active,Orphanet+OMIM,OMIM:615361,Subtype of disorder,[Clinical subtype],"Hypocalcemia, autosomal dominant 2",,,[615361],[428],[Autosomal dominant hypocalcemia],[2877],,,,, +GARD:15952,Active,Orphanet+OMIM,OMIM:615373,Subtype of disorder,[Disease subtype],Left ventricular noncompaction 8,,,[615373],[54260],[Left ventricular noncompaction],[10985],,,,, +GARD:15953,Active,Orphanet+OMIM,OMIM:615374,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 18,,,[615374],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:15954,Active,Orphanet+OMIM,OMIM:615377,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 13",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583}).",[615377],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15955,Active,Orphanet+OMIM,OMIM:615378,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 14",,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583}).",[615378],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:15956,Active,Orphanet+OMIM,OMIM:615396,Subtype of disorder,[Disease subtype],Left ventricular noncompaction 10,,,[615396],[54260],[Left ventricular noncompaction],[10985],,,,, +GARD:15957,Active,Orphanet+OMIM,OMIM:615397,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 11",,,[615397],[564],[Meckel syndrome],[3436],,,,, +GARD:15958,Active,Orphanet+OMIM,OMIM:615399,Subtype of disorder,[Disease subtype],Paroxysmal nocturnal hemoglobinuria 2,,,[615399],[447],[Paroxysmal nocturnal hemoglobinuria],[7337],,,,, +GARD:15959,Active,Orphanet+OMIM,OMIM:615402,Subtype of disorder,[Disease subtype],Dyschromatosis universalis hereditaria 3,,"Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by {2:Zhang et al., 2013}).\n\nFor a discussion of genetic heterogeneity of DUH, see DUH1 ({127500}).",[615402],[241],[Dyschromatosis universalis hereditaria],[1996],,,,, +GARD:15960,Active,Orphanet+OMIM,OMIM:615413,Subtype of disorder,[Disease subtype],Spermatogenic failure 12,,,[615413],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:15961,Active,Orphanet+OMIM,OMIM:615418,Subtype of disorder,[Disease subtype],"Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive",,"Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by {3:Echaniz-Laguna et al., 2012}).\n\nFor a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 ({603041}).",[615418],[1369],[Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome],[1142],,,,, +GARD:15962,Active,Orphanet+OMIM,OMIM:615422,Subtype of disorder,[Disease subtype],Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2,[Multisystem proteinopathy 2],,[615422],[52430],[Inclusion body myopathy with Paget disease of bone and frontotemporal dementia],[10899],,,,, +GARD:15963,Active,Orphanet+OMIM,OMIM:615424,Subtype of disorder,[Disease subtype],Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3,[Multisystem proteinopathy 3],,[615424],[52430],[Inclusion body myopathy with Paget disease of bone and frontotemporal dementia],[10899],,,,, +GARD:15964,Active,Orphanet+OMIM,OMIM:615426,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 20,,,[615426],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15965,Active,Orphanet+OMIM,OMIM:615434,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 82 with or without situs inversus,,,[615434],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15966,Active,Orphanet+OMIM,OMIM:615436,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 8",,,[615436],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:15967,Active,Orphanet+OMIM,OMIM:615441,Subtype of disorder,[Disease subtype],"Cardiac arrhythmia syndrome, with or without skeletal muscle weakness","[Triaden knockout syndrome, ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness]","Cardiac arrhythmia syndrome with or without skeletal muscle weakness (CARDAR) is characterized by onset of exercise- or emotion-induced cardiac arrhythmias in infancy or early childhood, associated with syncope or cardiac arrest. Electrocardiography shows variable abnormalities, including polymorphic or bidirectional ventricular extrasystoles and/or transient or persistent prolonged QT intervals, as well as inverted T-waves across the precordial leads. Cardiac events are refractory to both beta-blockers and left cardiac sympathetic denervation. Skeletal muscle weakness has been reported in some patients ({7:Roux-Buisson et al., 2012}; {1:Altmann et al., 2015}).\n\n<Subhead> Reviews\n\n{3:Giudicessi and Ackerman (2016)} reviewed the role of Ca(2+) cycling in cardiac repolarization and in the pathogenesis of long QT-associated cardiac arrhythmias. They noted that TRDN-null mouse models show remodeling of the calcium release unit molecular architecture, implicating either early or delayed after-depolarization as the mechanism predominantly responsible for the observed ventricular arrhythmias.\n\n{2:Clemens et al. (2019)} established an International Triadin Knockout Syndrome Registry and reviewed 14 previously published patients with TRDN-associated cardiac arrhythmias, as well as 7 additional patients. Affected individuals presented with either cardiac arrest or syncope at an average age of 3 years. The most common trigger was physical exertion, although a large number of events were not associated with a specific trigger. Mild skeletal myopathy or slight proximal muscle weakness was observed in 6 (29%) of the patients. Two patients died after cardiac events. Of the 19 surviving patients, 16 (84%) showed T-wave inversions across precordial leads, extending to V3 or V4, and 10 (53%) had transient QT prolongation greater than 480 ms. In addition, 8 (89%) of 9 patients who underwent exercise stress testing exhibited ventricular ectopy. All 16 patients tested had normal echocardiograms. The 19 surviving patients were treated with beta-blockers, and 13 (68%) also received implantable defibrillators; however, despite treatment, 14 (74%) of the patients experienced recurrent breakthrough cardiac events.",[615441],[3286],[Catecholaminergic polymorphic ventricular tachycardia],[4421],,,,, +GARD:15968,Active,Orphanet+OMIM,OMIM:615444,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 22","[Ciliary dyskinesia, primary, 22, with or without situs inversus]","Primary ciliary dyskinesia-22 (CILD22) is an autosomal recessive disorder caused by defective structure and function of cilia or flagella. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic cough, sinusitis, bronchiectasis, and male infertility. Defective motility of embryonic nodal cilia leads to situs abnormalities in about 50% of patients. CILD22 is characterized by defects of the inner and outer dynein arms (summary by {2:Zariwala et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[615444],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15969,Active,Orphanet+OMIM,OMIM:615451,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 23","[Ciliary dyskinesia, primary, 23, with or without situs inversus]","Primary ciliary dyskinesia-23 is an autosomal recessive disorder resulting from defective ciliary motility. Affected individuals have respiratory distress and recurrent upper and lower airway infections, and they often develop bronchiectasis. About 50% of patients have situs inversus or laterality defects. Ultrastructural analysis of respiratory cilia shows defects in the outer dynein arm (summary by {1:Hjeij et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615451],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15970,Active,Orphanet+OMIM,OMIM:615453,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 6",,"Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by {1:Gaignard et al., 2013}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 ({124000}).",[615453],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:15971,Active,Orphanet+OMIM,OMIM:615481,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 24","[Ciliary dyskinesia, primary, 24, without situs inversus]","Primary ciliary dyskinesia-24 is an autosomal recessive disorder resulting from defects of motile cilia. It is characterized clinically by sinopulmonary infection and subfertility; situs inversus is not observed. Ultrastructural examination of mutant cilia shows defects of the central microtubule complex and radial spokes (summary by {1:Kott et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615481],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15972,Active,Orphanet+OMIM,OMIM:615482,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 25","[Ciliary dyskinesia, primary, 25, with or without situs inversus]","Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by {1:Tarkar et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615482],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15973,Active,Orphanet+OMIM,OMIM:615483,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, 5",,"Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by {1:Keller et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600}).",[615483],[1980],[Bilateral striopallidodentate calcinosis],[6406],,,,, +GARD:15974,Active,Orphanet+OMIM,OMIM:615500,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 26","[Ciliary dyskinesia, primary, 26, with or without situs inversus]","Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by {1:Austin-Tse et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615500],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15975,Active,Orphanet+OMIM,OMIM:615503,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 8 with or without polydactyly,"[Short rib-polydactyly syndrome, type vi]","Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[615503],[93271],"[Short rib-polydactyly syndrome, Verma-Naumoff type]",[4835],,,,, +GARD:15976,Active,Orphanet+OMIM,OMIM:615504,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 27","[Ciliary dyskinesia, primary, 27, without situs inversus]","Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms and nexin links. Situs inversus has not been reported in these patients (summary by {1:Austin-Tse et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615504],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15977,Active,Orphanet+OMIM,OMIM:615505,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 28","[Ciliary dyskinesia, primary, 28, with or without situs inversus]","Primary ciliary dyskinesia-28 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms (summary by {1:Knowles et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[615505],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:15978,Active,Orphanet+OMIM,OMIM:615506,Subtype of disorder,[Disease subtype],"Telangiectasia, hereditary hemorrhagic, type 5",,"Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant syndrome characterized by telangiectases and arteriovenous malformations (AVMs). Hallmark features are recurrent epistaxis due to telangiectases of the nasal mucosa; telangiectases on the lips, hands, and oral mucosa; solid-organ AVMs, particularly of the lungs, liver, and brain; and a family history of the same. Presentation with 3 of these criteria is considered diagnostic for HHT (summary by {1:Wooderchak-Donahue et al., 2013}).",[615506],[774],[Hereditary hemorrhagic telangiectasia],[6626],,,,, +GARD:15979,Active,Orphanet+OMIM,OMIM:615513,Subtype of disorder,[Disease subtype],"Immunodeficiency 14a, autosomal dominant","[p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency, Activated pi3k-delta syndrome]","Autosomal dominant immunodeficiency-14A (IMD14A) is a primary immunodeficiency characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas (summary by {4:Lucas et al., 2014}).",[615513],[397596],[Activated PI3K-delta syndrome],[11983],,,,, +GARD:1598,Legacy,GARD,,,,,,,,,,,,Craniosynostosis Maroteaux Fonfria type,TRUE,FALSE,Active +GARD:15980,Active,Orphanet+OMIM,OMIM:615515,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 19,,,[615515],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:15981,Active,Orphanet+OMIM,OMIM:615527,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 8","[Candidiasis, familial chronic mucocutaneous, autosomal recessive]","Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae with Candida albicans, and sometimes by staphylococcal skin infections (summary by {1:Boisson et al., 2013}).\n\nFor a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 ({114580}).",[615527],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:15982,Active,Orphanet+OMIM,OMIM:615539,Subtype of disorder,[Disease subtype],"Ehlers-danlos syndrome, musculocontractural type, 2",,"The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by {1:Muller et al., 2013}).\n\nFor a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 ({601776}).",[615539],[2953],[Musculocontractural Ehlers-Danlos syndrome],[8486],,,,, +GARD:15983,Active,Orphanet+OMIM,OMIM:615544,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 6,,,[615544],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:15984,Active,Orphanet+OMIM,OMIM:615546,Subtype of disorder,[Malformation syndrome subtype],Van maldergem syndrome 2,,"Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by {1:Cappello et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Van Maldergem syndrome, see {601390}.",[615546],[314679],[Cerebrofacioarticular syndrome],[5456],,,,, +GARD:15985,Active,Orphanet+OMIM,OMIM:615550,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 12,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {1:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of DBA, see DBA1 ({105650}).",[615550],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:15986,Active,Orphanet+OMIM,OMIM:615557,Subtype of disorder,[Disease subtype],"Melioidosis, susceptibility to",,"Melioidosis is infection caused by the gram-negative, flagellated soil saprophyte Burkholderia pseudomallei, which is endemic in parts of southeast Asia and northern Australia. Sepsis is a common clinical presentation of disease, and lung is the organ most commonly involved. In northern Thailand, where B. pseudomallei is the most common bloodstream isolate, the overall melioidosis mortality rate exceeds 40%, and pneumonia confers more than 2-fold increased risk of death (summary by {1:West et al., 2013}).",[615557],[31202],[Melioidosis],[9546],,,,, +GARD:15987,Active,Orphanet+OMIM,OMIM:615559,Subtype of disorder,[Disease subtype],"Autoimmune lymphoproliferative syndrome, type iii","[Immunodeficiency, common variable, 9, formerly]","Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by {6:Oliveira, 2013}).\n\nFor a general description and a discussion of genetic heterogeneity of ALPS, see {601859}.",[615559],[3261],[Autoimmune lymphoproliferative syndrome],[8686],,,,, +GARD:15988,Active,Orphanet+OMIM,OMIM:615565,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 67,,"Retinitis pigmentosa (RP) is the name given to a group of hereditary retinal conditions in which degeneration of rod photoreceptors, responsible for vision under dark conditions, is more pronounced than that of cone photoreceptors, which mediate daylight vision. Individuals with RP typically experience night blindness at first, followed by progressive and unstoppable visual impairment in daytime conditions as well. Their visual fields become reduced gradually and sight is lost from the midperiphery to the periphery, then from the midperiphery to the center, resulting eventually in complete or near-complete blindness if left untreated. Most patients show intraretinal pigment in a bone-spicule configuration around the fundus periphery as well as retinal arteriolar attenuation, elevated final dark-adapted thresholds, and reduced and delayed electroretinograms. Autosomal recessive RP is the most common form of hereditary retinal degeneration in humans (summary by {1:Nishiguchi et al., 2013}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[615565],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:15989,Active,Orphanet+OMIM,OMIM:615573,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 9",,"Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by {1:Ashraf et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300}).",[615573],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:1599,Legacy,GARD,,,,,,,,,,,,Craniosynostosis mental retardation clefting syndrome,TRUE,FALSE,Retired +GARD:15990,Active,Orphanet+OMIM,OMIM:615577,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 10","[deficit in anterior pituitary function and variable immunodeficiency, Immunodeficiency, common variable, with central adrenal insufficiency]","Common variable immunodeficiency-10 (CVID10) is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by {3:Chen et al., 2013}).\n\nFor a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 ({607594}).",[615577],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:15991,Active,Orphanet+OMIM,OMIM:615605,Subtype of disorder,[Disease subtype],Fanconi renotubular syndrome 3,,"Fanconi renotubular syndrome-3 (FRTS3) is an autosomal dominant disorder characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria (summary by {1:Klootwijk et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 ({134600}).",[615605],[3337],[Primary Fanconi renotubular syndrome],[9118],,,,, +GARD:15992,Active,Orphanet+OMIM,OMIM:615619,Subtype of disorder,[Disease subtype],"Cholangiocarcinoma, susceptibility to","[Chlc, susceptibility to]","Carcinomas of the biliary tract are aggressive malignancies, with 5-year survival of less than 10%. These carcinomas arise throughout the biliary tree and are anatomically classified as either intrahepatic or extrahepatic cholangiocarcinomas. Gallbladder carcinomas also arise from the biliary tree but have distinct natural histories compared to cholangiocarcinomas, suggesting different underlying tumor biology.\n\nCholangiocarcinoma incidence varies widely between geographic regions, reflecting the impact of different underlying etiologies. In endemic areas, liver fluke infections by O. viverrini and Clonorchis sinensis, both group I carcinogens, represent the major risk factor for cholangiocarcinomas. In nonendemic regions, other risk factors, including choledochal cysts ({603003}), hepatolithiasis, and primary sclerosing cholangitis ({613806}), are likely contributors (summary by {1:Chan-on et al., 2013}). Overall, the majority of patients lack such identifiable risk factors (summary by {2:Jiao et al., 2013}).",[615619],[70567],[Cholangiocarcinoma],[9304],,,,, +GARD:15993,Active,Orphanet+OMIM,OMIM:615630,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 10 with or without polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {3:Huber and Cormier-Daire, 2012} and {4:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[615630],[474],[Jeune syndrome],[3049],,,,, +GARD:15994,Active,Orphanet+OMIM,OMIM:615631,Subtype of disorder,[Disease subtype],"Anemia, congenital dyserythropoietic, type ib","[Cda, type ib]","Congenital dyserythropoietic anemia type I is an autosomal recessive hematologic disorder characterized by congenital macrocytic anemia secondary to ineffective erythropoiesis. The bone marrow shows erythroid hyperplasia, with nuclear abnormalities in most erythroblasts. Up to 3% of erythroblasts have interchromatin bridges, and erythroblast nuclei are abnormally electron dense with spongy ('Swiss cheese-like') heterochromatin on electron microscopy. Some reported patients have distal digital abnormalities (summary by {2:Ahmed et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CDA, see CDAN1A ({224120}).",[615631],[98869],[Congenital dyserythropoietic anemia type I],[2000],,,,, +GARD:15995,Active,Orphanet+OMIM,OMIM:615632,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary sensory, type if",[Hsn if],"Hereditary sensory neuropathy type IF is an autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment (summary by {2:Kornak et al., 2014}).\n\nFor a discussion of genetic heterogeneity of HSN, see HSAN1A ({162400}).",[615632],[36386],[Hereditary sensory and autonomic neuropathy type 1],[6635],,,,, +GARD:15996,Active,Orphanet+OMIM,OMIM:615633,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 11 with or without polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500}).",[615633],"[93271, 474]","[Short rib-polydactyly syndrome, Verma-Naumoff type, Jeune syndrome]","[3049, 4835]",,,,, +GARD:15997,Active,Orphanet+OMIM,OMIM:615636,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 21,,"Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by {1:Akizu et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[615636],"[397715, 475]","[Joubert syndrome with Jeune asphyxiating thoracic dystrophy, Joubert syndrome]","[6802, 17637]",,,,, +GARD:15998,Active,Orphanet+OMIM,OMIM:615663,Subtype of disorder,[Malformation syndrome subtype],Warburg micro syndrome 4,,"Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by {4:Morris-Rosendahl et al., 2010}).\n\nFor a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.",[615663],[2510],[Micro syndrome],[5534],,,,, +GARD:15999,Active,Orphanet+OMIM,OMIM:615665,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 22,,,[615665],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:16,Active,Orphanet,ORPHA:1125,Disorder,[Disease],"Ocular motor apraxia, Cogan type","[Oculomotor apraxia, Cogan type]","Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.",[257550],,,,,Oculomotor apraxia Cogan type,TRUE,FALSE,Active +GARD:160,Active,Orphanet,ORPHA:3130,Disorder,[Disease],Satoyoshi syndrome,[Komuragaeri disease],"Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.",[600705],,,,,Satoyoshi syndrome,TRUE,FALSE,Active +GARD:1600,Legacy,GARD,,,,,,,,,,,,Craniosynostosis mental retardation heart defects,TRUE,FALSE,Retired +GARD:16000,Active,Orphanet+OMIM,OMIM:615670,Subtype of disorder,[Disease subtype],Schwannomatosis 2,,"Schwannomatosis is an adult-onset tumor predisposition syndrome characterized by the development of multiple schwannomas in various areas of the body (summary by {1:Piotrowski et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of schwannomatosis, see SWNTS1 ({162091}).",[615670],[93921],[Schwannomatosis],[4768],,,,, +GARD:16001,Active,Orphanet+OMIM,OMIM:615674,Subtype of disorder,[Disease subtype],Dowling-degos disease 3,,"For a general phenotypic description and a discussion of genetic heterogeneity of Dowling-Degos disease, see DDD1 ({179850}).",[615674],[79145],[Dowling-Degos disease],[9775],,,,, +GARD:16002,Active,Orphanet+OMIM,OMIM:615696,Subtype of disorder,[Disease subtype],Dowling-degos disease 4,,,[615696],[79145],[Dowling-Degos disease],[9775],,,,, +GARD:16003,Active,Orphanet+OMIM,OMIM:615706,Subtype of disorder,[Malformation syndrome subtype],Auriculocondylar syndrome 3,,"Auriculocondylar syndrome (ARCND) is a rare craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia, prominent cheeks, and question mark ears (QMEs). QMEs consist of a defect between the lobe and the upper two-thirds of the pinna, ranging from a mild indentation in the helix to a complete cleft between the lobe and helix (summary by {1:Gordon et al., 2013}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 ({602483}).",[615706],[137888],[Auriculocondylar syndrome],[9798],,,,, +GARD:16004,Active,Orphanet+OMIM,OMIM:615725,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 68,,,[615725],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16005,Active,Orphanet+OMIM,OMIM:615726,Subtype of disorder,[Disease subtype],Pachyonychia congenita 3,,"Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {13:Sybert, 2010}; {4:Eliason et al., 2012}; {7:McLean et al., 2011}).\n\nFor a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{6:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{10:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {14:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.",[615726],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:16006,Active,Orphanet+OMIM,OMIM:615728,Subtype of disorder,[Disease subtype],Pachyonychia congenita 4,,"Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {9:Sybert, 2010}; {1:Eliason et al., 2012}; {4:McLean et al., 2011}).\n\nFor a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{2:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{7:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {10:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.",[615728],[2309],[Pachyonychia congenita],[10753],,,,, +GARD:16007,Active,Orphanet+OMIM,OMIM:615731,Subtype of disorder,[Disease subtype],Nemaline myopathy 9,,"Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by {1:Gupta et al., 2013}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.",[615731],"[171436, 171433, 171430, 171439]","[Severe congenital nemaline myopathy, Typical nemaline myopathy, Intermediate nemaline myopathy, Childhood-onset nemaline myopathy]","[12821, 12822, 12823, 7171]",,,,, +GARD:16008,Active,Orphanet+OMIM,OMIM:615744,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 19,"[Epileptic encephalopathy, early infantile, 19]","Developmental and epileptic encephalopathy-19 (DEE19) is a neurologic disorder characterized by the onset of various types of seizures in the first year of life, usually between 8 and 12 months of age. Seizures are often triggered by fever, and status epilepticus may occur. Affected individuals subsequently show mild to moderately impaired intellectual development. Brain imaging is typically normal. The clinical phenotype is similar to that of Dravet syndrome (DRVT; {607208}) (summary by {1:Carvill et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615744],[33069],[Dravet syndrome],[10430],,,,, +GARD:16009,Active,Orphanet+OMIM,OMIM:615752,Subtype of disorder,[Clinical subtype],"Polymicrogyria, bilateral perisylvian, autosomal recessive",[Pmgr],"Autosomal recessive bilateral perisylvian polymicrogyria is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability ({1:Bae et al., 2014}).",[615752],[98889],[Bilateral perisylvian polymicrogyria],[6011],,,,, +GARD:1601,Active,Orphanet,ORPHA:1527,Disorder,[Malformation syndrome],"Craniosynostosis, Philadelphia type",,"Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.",[185900],,,,,Craniosynostosis Philadelphia type,TRUE,FALSE,Active +GARD:16010,Active,Orphanet+OMIM,OMIM:615770,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 15",,"Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by {1:Oberti et al., 2004}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.",[615770],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:16011,Active,Orphanet+OMIM,OMIM:615780,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 69,,"Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by {1:El Shamieh et al., 2014}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[615780],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16012,Active,Orphanet+OMIM,OMIM:615785,Subtype of disorder,[Disease subtype],White sponge nevus 2,,,[615785],[171723],[White sponge nevus],[8501],,,,, +GARD:16013,Active,Orphanet+OMIM,OMIM:615807,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 8,,"Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by {2:Shanske et al., 1997}).\n\nFor a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 ({210600}).",[615807],[808],[Seckel syndrome],[8562],,,,, +GARD:16014,Active,Orphanet+OMIM,OMIM:615821,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis",,,[615821],[65282],[Carvajal syndrome],[5595],,,,, +GARD:16015,Active,Orphanet+OMIM,OMIM:615824,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 7",,,[615824],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:16016,Active,Orphanet+OMIM,OMIM:615830,Subtype of disorder,[Disease subtype],"Pigmented nodular adrenocortical disease, primary, 4","[chromosome 19p13 duplication syndrome, Cushing syndrome, adrenal, due to ppnad4]","Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by {2:Cao et al., 2014}; {5:Sato et al., 2014}).",[615830],[189439],[Primary pigmented nodular adrenocortical disease],[10906],,,,, +GARD:16017,Active,Orphanet+OMIM,OMIM:615833,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 21,"[Epileptic encephalopathy, early infantile, 21]","Developmental and epileptic encephalopathy-21 (DEE21) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life. Affected individuals have severely impaired psychomotor development with poor head control and inability to fix and follow visually. Other features may include axial hypotonia, peripheral hypertonia, and cerebral atrophy or delayed myelination on brain imaging (summary by {1:Alazami et al., 2014} and {2:Alsahli et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615833],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16018,Active,Orphanet+OMIM,OMIM:615838,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 8",,"Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by {1:Dallabona et al., 2016}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 ({124000}).",[615838],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:16019,Active,Orphanet+OMIM,OMIM:615841,Subtype of disorder,[Disease subtype],Spermatogenic failure 13,,,[615841],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:1602,Active,Orphanet,ORPHA:1225,Disorder,[Malformation syndrome],Baller-Gerold syndrome,,"Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).",[218600],,,,,Baller-Gerold syndrome,TRUE,FALSE,Active +GARD:16020,Active,Orphanet+OMIM,OMIM:615842,Subtype of disorder,[Disease subtype],Spermatogenic failure 14,,,[615842],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16021,Active,Orphanet+OMIM,OMIM:615846,Subtype of disorder,[Disease subtype],Aicardi-goutieres syndrome 7,,"Aicardi-Goutieres syndrome-7 (AGS7) is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1; {147660}) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by {5:Rice et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 ({225750}).",[615846],[51],[Aicardi-Goutières syndrome],[575],,,,, +GARD:16022,Active,Orphanet+OMIM,OMIM:615860,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 19,,,[615860],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:16023,Active,Orphanet+OMIM,OMIM:615866,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 9,"[Mental retardation, autosomal dominant 27]","Coffin-Siris syndrome 9 is characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails ({1:Tsurusaki et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[615866],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16024,Active,Orphanet+OMIM,OMIM:615871,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 24,"[Epileptic encephalopathy, early infantile, 24]","Developmental and epileptic encephalopathy-24 (DEE24) is a neurologic disorder characterized by onset of refractory seizures in infancy, severely impaired global development, intellectual disability, and behavioral abnormalities. Most patients have onset of variable types of seizures between 4 and 13 months of age, but earlier onset in the first days of life has also been reported. Seizures are often triggered by fever, at least initially; status epilepticus may occur (summary by {3:Nava et al., 2014} and {2:Marini et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[615871],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16025,Active,Orphanet+OMIM,OMIM:615872,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 29","[Ciliary dyskinesia, primary, 29, without situs inversus]","Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of recurrent respiratory infections due to defective mucociliary clearance. Patients do not have situs inversus (summary by {2:Wallmeier et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.",[615872],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16026,Active,Orphanet+OMIM,OMIM:615883,Subtype of disorder,[Disease subtype],"Myopathy, tubular aggregate, 2",,,[615883],[2593],[Tubular aggregate myopathy],[3884],,,,, +GARD:16027,Active,Orphanet+OMIM,OMIM:615885,Subtype of disorder,[Disease subtype],Hypotrichosis 12,,,[615885],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:16028,Active,Orphanet+OMIM,OMIM:615887,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia5",,"Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({3:Witkop, 1989}).",[615887],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:16029,Active,Orphanet+OMIM,OMIM:615896,Subtype of disorder,[Disease subtype],Hypotrichosis 13,[Hypotrichosis with woolly hair],,[615896],[170],[Woolly hair],[5597],,,,, +GARD:16030,Active,Orphanet+OMIM,OMIM:615909,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 13,,,[615909],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16031,Active,Orphanet+OMIM,OMIM:615916,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1nn",,,[615916],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:16032,Active,Orphanet+OMIM,OMIM:615922,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 70,,,[615922],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16033,Active,Orphanet+OMIM,OMIM:615935,Subtype of disorder,[Morphological anomaly subtype],Pancreatic agenesis 2,"[Pancreatic hypoplasia, congenital 2]",,[615935],[2805],[Partial pancreatic agenesis],[4203],,,,, +GARD:16034,Active,Orphanet+OMIM,OMIM:615954,Subtype of disorder,[Disease subtype],Acth-independent macronodular adrenal hyperplasia 2,[Primary macronodular adrenal hyperplasia],"ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia ({2:Assie et al., 2013}).",[615954],[189427],[Cushing syndrome due to macronodular adrenal hyperplasia],[10824],,,,, +GARD:16035,Active,Orphanet+OMIM,OMIM:615959,Subtype of disorder,[Disease subtype],"Myopathy, centronuclear, 5",,"Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by {1:Agrawal et al., 2014}).\n\nFor a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 ({160150}).",[615959],[169186],[Autosomal recessive centronuclear myopathy],[12718],,,,, +GARD:16036,Active,Orphanet+OMIM,OMIM:615973,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 20,,,[615973],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:16037,Active,Orphanet+OMIM,OMIM:615990,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 13,,"BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa ({1:Leitch et al., 2008}; {2:Xing et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615990],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16038,Active,Orphanet+OMIM,OMIM:615991,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 14,,"BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease ({1:Leitch et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615991],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16039,Active,Orphanet+OMIM,OMIM:615992,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 15,,"BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene ({1:Kim et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615992],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16040,Active,Orphanet+OMIM,OMIM:615993,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 16,,"BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient ({1:Billingsley et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615993],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16041,Active,Orphanet+OMIM,OMIM:615994,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 17,,"Bardet-Biedl syndrome-17 (BBS17) is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17, mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation ({1:Deffert et al., 2007}; {3:Schaefer et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615994],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16042,Active,Orphanet+OMIM,OMIM:615995,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 18,,"BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability ({1:Scheidecker et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615995],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16043,Active,Orphanet+OMIM,OMIM:615996,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 19,,"Bardet-Biedl syndrome-19 (BBS19) is an autosomal recessive ciliopathy characterized by obesity, impaired intellectual development, polydactyly, renal failure, retinitis pigmentosa, and hypogonadism ({1:Aldahmesh et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615996],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16044,Active,Orphanet+OMIM,OMIM:616001,Subtype of disorder,[Morphological anomaly subtype],"Breasts and/or nipples, aplasia or hypoplasia of, 2",,"Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia ({305100}) or Poland syndrome ({173800}) (summary by {4:Papadimitriou et al., 2009}).\n\nFor a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see {113700}.",[616001],[180188],[Isolated congenital breast hypoplasia/aplasia],[9489],,,,, +GARD:16045,Active,Orphanet+OMIM,OMIM:616002,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 7,"[Glomerulosclerosis, focal segmental, 7]","Focal segmental glomerulosclerosis is a form of kidney injury defined by partial sclerosis of some but not all glomeruli. It is characterized clinically by significant proteinuria with or without features of nephrotic syndrome. Some patients develop end-stage renal disease (summary by {1:Barua et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}).",[616002],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16046,Active,Orphanet+OMIM,OMIM:616005,Subtype of disorder,[Disease subtype],Immunodeficiency 36,,"IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma ({2:Elkaim et al., 2016}).",[616005],[397596],[Activated PI3K-delta syndrome],[11983],,,,, +GARD:16047,Active,Orphanet+OMIM,OMIM:616006,Subtype of disorder,[Malformation syndrome subtype],Hennekam lymphangiectasia-lymphedema syndrome 2,,"Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by {2:Alders et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 ({235510}).",[616006],[2136],[Hennekam syndrome],[3318],,,,, +GARD:16048,Active,Orphanet+OMIM,OMIM:616026,Subtype of disorder,[Clinical subtype],Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young,[Frts4 with mody],,[616026],[93111],[HNF1B-related autosomal dominant tubulointerstitial kidney disease],[10221],,,,, +GARD:16049,Active,Orphanet+OMIM,OMIM:616028,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 5,,"Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by {4:Stittrich et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[616028],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:1605,Active,Orphanet,ORPHA:1528,Disorder,[Malformation syndrome],Craniotelencephalic dysplasia,,"Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.",[218670],,,,,Craniotelencephalic dysplasia,TRUE,FALSE,Active +GARD:16050,Active,Orphanet+OMIM,OMIM:616030,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 22 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism is caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.",[616030],[478],[Kallmann syndrome],[10771],,,,, +GARD:16051,Active,Orphanet+OMIM,OMIM:616032,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 8,"[Glomerulosclerosis, focal segmental, 8]",,[616032],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16052,Active,Orphanet+OMIM,OMIM:616037,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 30","[Ciliary dyskinesia, primary, 30, with or without situs inversus]",,[616037],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16053,Active,Orphanet+OMIM,OMIM:616040,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant",,"Presynaptic congenital myasthenic syndrome-7A with distal motor neuropathy (CMS7A) is an autosomal dominant neuromuscular disorder characterized by onset of foot deformities, delayed motor development, and slowly progressive distal muscle weakness resulting in gait difficulties in early childhood. Other features may include hyporeflexia, muscle atrophy, and upper limb involvement. Electrophysiologic studies show low compound muscle action potentials (CMAPs), consistent with a distal hereditary motor neuropathy (dHMN), as well as a decremental response to repetitive stimulation, indicating presynaptic defects at the neuromuscular junction (NMJ), consistent with myasthenic syndrome (summary by {3:Fionda et al., 2021}). The complex phenotype of patients with dominant SYT2 mutations likely results from impairment of 2 fundamental functions of SYT2: (1) disturbance of calcium-dependent synchronous presynaptic neurotransmitter release, resulting in a myasthenic disorder, and (2) disruption of exocytosis and endocytosis, causing a degenerative process affecting peripheral motor nerve terminals and resulting in a motor neuropathy ({5:Maselli et al., 2021}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).\n\nFor a discussion of genetic heterogeneity of dHMN, see {182960}.",[616040],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16054,Active,Orphanet+OMIM,OMIM:616051,Subtype of disorder,[Etiological subtype],"Microcephaly 13, primary, autosomal recessive",,,[616051],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16055,Active,Orphanet+OMIM,OMIM:616059,Subtype of disorder,[Disease subtype],Mirror movements 3,,,[616059],[238722],[Familial congenital mirror movements],[12551],,,,, +GARD:16056,Active,Orphanet+OMIM,OMIM:616063,Subtype of disorder,[Disease subtype],"Porokeratosis 8, disseminated superficial actinic type",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shape, distribution, and clinical course ({2:Schamroth et al., 1997}). However, as noted by {3:Sybert (2010)}, the existence of several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[616063],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:16057,Active,Orphanet+OMIM,OMIM:616080,Subtype of disorder,[Etiological subtype],"Microcephaly 12, primary, autosomal recessive",,,[616080],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16058,Active,Orphanet+OMIM,OMIM:616081,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1c",[Hypomyelination with spinal muscular atrophy and cerebellar hypoplasia],"Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by {1:Boczonadi et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[616081],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:16059,Active,Orphanet+OMIM,OMIM:616106,Subtype of disorder,[Disease subtype],"Psoriasis 15, pustular, susceptibility to",,,[616106],[247353],[Generalized pustular psoriasis],[12819],,,,, +GARD:16060,Active,Orphanet+OMIM,OMIM:616111,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 9",,,[616111],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:16061,Active,Orphanet+OMIM,OMIM:616115,Subtype of disorder,[Disease subtype],Familial cold autoinflammatory syndrome 4,,,[616115],[47045],[Familial cold urticaria],[9535],,,,, +GARD:16062,Active,Orphanet+OMIM,OMIM:616138,Subtype of disorder,[Disease subtype],Perrault syndrome 5,,,[616138],[2855],[Perrault syndrome],[2542],,,,, +GARD:16063,Active,Orphanet+OMIM,OMIM:616139,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 27,"[Epileptic encephalopathy, early infantile, 27]","Developmental and epileptic encephalopathy-27 (DEE27) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity associated with early-onset seizures. Additional features may include hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by {2:Platzer et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616139],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:16064,Active,Orphanet+OMIM,OMIM:616151,Subtype of disorder,[Disease subtype],"Macular dystrophy, vitelliform, 4",,"Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {3:Manes et al., 2013}). Vitelliform macular dystrophy-4 is characterized by late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculography (EOG) ({4:Meunier et al., 2014}). In most families with VMD4 caused by compound heterozygous or homozygous mutations in IMPG1, asymptomatic heterozygous carriers have been found to have fundus changes ({3:Manes et al., 2013}; {1:Brandl et al., 2017}).\n\n{1:Brandl et al. (2017)} examined patients VMD4, caused by mutation in the IMPG1 gene, and VMD5 ({616152}), caused by mutation in the IMPG2 gene, and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above a preserved Bruch membrane/RPE on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in those with IMPG1 mutations.\n\nFor a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 ({153840}).",[616151],[99000],[Adult-onset foveomacular vitelliform dystrophy],[10909],,,,, +GARD:16065,Active,Orphanet+OMIM,OMIM:616152,Subtype of disorder,[Disease subtype],"Macular dystrophy, vitelliform, 5",,"Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {3:Manes et al., 2013}). Vitelliform macular dystrophy-5 (VMD5) is characterized by late-onset moderate visual impairment, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculopathy (EOG) ({4:Meunier et al., 2014}).\n\n{2:Brandl et al. (2017)} examined patients with IMPG2- and IMPG1 ({602870})-associated VMD (see VMD4; {616151}) and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above the seemingly preserved Bruch membrane/RPE seen on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in those with IMPG1 mutations.\n\nFor a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 ({153840}).",[616152],[99000],[Adult-onset foveomacular vitelliform dystrophy],[10909],,,,, +GARD:16066,Active,Orphanet+OMIM,OMIM:616165,Subtype of disorder,[Disease subtype],Nemaline myopathy 10,,"Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by {3:Yuen et al., 2014}). Patients with a stable and much milder disease course have been described ({2:Schatz et al., 2018}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800}).",[616165],"[171436, 171430]","[Severe congenital nemaline myopathy, Typical nemaline myopathy]","[12821, 12822]",,,,, +GARD:16067,Active,Orphanet+OMIM,OMIM:616166,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 9","[Aortic aneurysm, thoracic, with or without aortic dissection]",,[616166],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:16068,Active,Orphanet+OMIM,OMIM:616208,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia,,,[616208],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:16069,Active,Orphanet+OMIM,OMIM:616211,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 28,"[Epileptic encephalopathy, early infantile, 28]","Developmental and epileptic encephalopathy-28 (DEE28) is an autosomal recessive severe neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals have severe axial hypotonia and profoundly impaired psychomotor development. More severely affected patients have acquired microcephaly, poor or absent visual contact, and retinal degeneration; early death may occur (summary by {2:Mignot et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616211],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:1607,Legacy,GARD,,,,,,,,,,,,Crawfurd syndrome,TRUE,FALSE,Active +GARD:16070,Active,Orphanet+OMIM,OMIM:616220,Subtype of disorder,[Disease subtype],Focal segmental glomerulosclerosis 9,"[Glomerulosclerosis, focal segmental, 9]",,[616220],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16071,Active,Orphanet+OMIM,OMIM:616221,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ih",,"Amelogenesis imperfecta type IH is characterized by hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored ({2:Wang et al., 2014} and {1:Poulter et al., 2014}).",[616221],"[100031, 100032]","[Hypoplastic amelogenesis imperfecta, Hypocalcified amelogenesis imperfecta]","[16931, 645]",,,,, +GARD:16072,Active,Orphanet+OMIM,OMIM:616229,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xvi","[Oi, type xvi]","Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae ({2:Keller et al., 2018}; {3:Lindahl et al., 2018}).",[616229],[216812],[Osteogenesis imperfecta type 3],[8695],,,,, +GARD:16073,Active,Orphanet+OMIM,OMIM:616247,Subtype of disorder,[Disease subtype],Long qt syndrome 14,,"LQT14 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block ({2:Crotti et al., 2013}).\n\nPatients with LQT14, LQT15 ({616249}), or LQT16 ({618782}), resulting from mutation in calmodulin genes CALM1, CALM2 ({114182}), or CALM3 ({114183}), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes ({1:Boczek et al., 2016}).",[616247],[101016],[Romano-Ward syndrome],[3284],,,,, +GARD:16074,Active,Orphanet+OMIM,OMIM:616249,Subtype of disorder,[Disease subtype],Long qt syndrome 15,,"LQT15 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block ({2:Crotti et al., 2013}).\n\nPatients with LQT14 ({616247}), LQT15, or LQT16 ({618782}), resulting from mutation in calmodulin genes CALM1 ({114180}), CALM2, or CALM3 ({114183}), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes ({1:Boczek et al., 2016}).",[616249],[101016],[Romano-Ward syndrome],[3284],,,,, +GARD:16075,Active,Orphanet,ORPHA:562528,Disorder,[Malformation syndrome],Congenital limbs-face contractures-hypotonia-developmental delay syndrome,[CLIFAHDD syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.",[616266],,,,,,,, +GARD:16076,Active,Orphanet+OMIM,OMIM:616270,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type if","[Amelogenesis imperfecta, hypoplastic type if]","Amelogenesis imperfecta type IF is characterized by hypoplastic enamel of the primary and secondary dentition. The teeth may appear rough and discolored, and the tooth enamel may be absent, pitted, or of varying thickness ({1:Poulter et al. (2014)}).",[616270],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:16077,Active,Orphanet+OMIM,OMIM:616294,Subtype of disorder,[Malformation syndrome subtype],Cole-carpenter syndrome 2,,"Cole-Carpenter syndrome-2 (CLCRP2) is a skeletal dysplasia associated with low bone mass or an osteogenesis imperfecta-like syndrome. It is characterized by bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features such as marked frontal bossing, midface hypoplasia, and micrognathia (summary by {3:Takeyari et al., 2018}).",[616294],[2050],[Cole-Carpenter syndrome],[1425],,,,, +GARD:16078,Active,Orphanet+OMIM,OMIM:616298,Subtype of disorder,[Malformation syndrome subtype],Singleton-merten syndrome 2,,"Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by {1:Jang et al., 2015}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 ({182250}).",[616298],[85191],[Singleton-Merten dysplasia],[122],,,,, +GARD:16079,Active,Orphanet+OMIM,OMIM:616300,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 13 with or without polydactyly,,,[616300],[474],[Jeune syndrome],[3049],,,,, +GARD:1608,Active,Orphanet,ORPHA:52503,Disorder,[Disease],X-linked creatine transporter deficiency,"[Creatine transporter deficiency, SLC6A8 deficiency]","X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.",[300352],,,,,X-linked creatine deficiency,TRUE,FALSE,Active +GARD:16080,Active,Orphanet+OMIM,OMIM:616304,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 17",,,[616304],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16081,Active,Orphanet+OMIM,OMIM:616307,Subtype of disorder,[Disease subtype],Senior-loken syndrome 8,,,[616307],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:16082,Active,Orphanet+OMIM,OMIM:616311,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 33","[Mental retardation, autosomal dominant 33]",,[616311],[2514],[Autosomal dominant primary microcephaly],[3605],,,,, +GARD:16083,Active,Orphanet+OMIM,OMIM:616314,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency",,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616314],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16084,Active,Orphanet+OMIM,OMIM:616321,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 3a, slow-channel",,"Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616321],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16085,Active,Orphanet+OMIM,OMIM:616322,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 3b, fast-channel",,"Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by {5:Sine et al., 2003} and {2:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616322],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16086,Active,Orphanet+OMIM,OMIM:616323,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency",,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616323],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16087,Active,Orphanet+OMIM,OMIM:616324,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 4b, fast-channel",,"Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by {4:Sine et al., 2003} and {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616324],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16088,Active,Orphanet+OMIM,OMIM:616325,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency",,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients may show a favorable response to amifampridine (summary by {2:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616325],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:16089,Active,Orphanet+OMIM,OMIM:616326,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency","[Myasthenic syndrome, congenital, ie, formerly, cms ie, formerly]","Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by {4:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616326],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,,,, +GARD:1609,Active,Orphanet,ORPHA:504,Disorder,[Disease],Creeping myiasis,[Migratory myiasis],"A rare cutaneous myiasis characterized by infestation of humans by the larvae of horse or cattle bot flies. After penetration of the skin, horse bot fly larvae form tunnels in the lower layers of the epidermis, where they can migrate for up to several months, causing serpentine, erythematous lesions with intense pruritus. Cattle bot fly larvae penetrate deeper into the subcutaneous tissue, producing more painful, erythematous lesions, which usually resolve after several hours or days, when the larvae move on to infest another area.",,,,,,Creeping myiasis,TRUE,FALSE,Active +GARD:16090,Active,Orphanet+OMIM,OMIM:616329,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 13","[Mody, type 13]",,[616329],[552],[MODY],[3697],,,,, +GARD:16091,Active,Orphanet+OMIM,OMIM:616330,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 18","[Myasthenic syndrome, congenital, 18, with intellectual disability and ataxia]","Congenital myasthenic syndrome-18 is an autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia (summary by {1:Shen et al., 2014}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616330],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16092,Active,Orphanet+OMIM,OMIM:616339,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 29,"[Epileptic encephalopathy, early infantile, 29]","Developmental and epileptic encephalopathy-29 (DEE29) is an autosomal recessive neurologic disorder characterized by the onset of refractory myoclonic seizures in the first months of life. Affected individuals have poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation (summary by {2:Simons et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616339],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16093,Active,Orphanet+OMIM,OMIM:616341,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 30,"[Epileptic encephalopathy, early infantile, 30]","Developmental and epileptic encephalopathy-30 (DEE30) is a severe neurologic disorder characterized by onset of refractory seizures soon after birth or in the first months of life. Seizure types include early myoclonic encephalopathy (EME), Ohtahara syndrome, and infantile spasms; most are refractory to treatment. Patients with earlier seizure onset make essentially no developmental progress and may die in infancy. Those with later onset show profoundly impaired global development with absent speech, poor eye contact, inability to walk, behavioral abnormalities, and feeding difficulties that may require a feeding tube (summary by {1:Hansen et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616341],"[1935, 1934, 3451]","[Early infantile epileptic encephalopathy, Infantile spasms syndrome, Early myoclonic encephalopathy]","[16581, 7887, 9255]",,,,, +GARD:16094,Active,Orphanet+OMIM,OMIM:616346,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 31,"[Epileptic encephalopathy, early infantile, 31]","Developmental and epileptic encephalopathy-31 (DEE31) is a neurologic disorder characterized by the global developmental delay apparent in early infancy. Most individuals have onset of various types of refractory seizures in the first months or years of life, which exacerbates the psychomotor deficits. Patients have hypotonia and profound intellectual disability with absent speech and inability to walk or ataxic gait. Some patients may have additional syndromic features, including dysmorphic features or cortical visual impairment (summary by the {3:EuroEPINOMICS-RES Consortium et al., 2014} and {2:Deciphering Developmental Disorders Study, 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616346],"[2382, 442835]","[Non-specific early-onset epileptic encephalopathy, Lennox-Gastaut syndrome]","[15028, 9912]",,,,, +GARD:16095,Active,Orphanet+OMIM,OMIM:616353,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 6",,"Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by {2:Tummala et al., 2015}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[616353],"[1775, 3322]","[Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome]","[10905, 346]",,,,, +GARD:16096,Active,Orphanet+OMIM,OMIM:616366,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 32,"[Epileptic encephalopathy, early infantile, 32]","Developmental and epileptic encephalopathy-32 (DEE32) is a neurologic disorder characterized by the onset of various seizure types, including febrile and myoclonic seizures, between about 5 and 17 months of age after normal early development. Thereafter, patients manifest global developmental delay or developmental regression with impaired intellectual development and poor or absent speech. Some may be able to attend special schools. Other features include ataxia with difficulty walking, deficient fine motor skills, tremor, and dysarthria. The seizures are initially refractory in some cases, but may remit later during childhood; however, neurologic deficits persist (summary by {2:Syrbe et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616366],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16097,Active,Orphanet+OMIM,OMIM:616371,Subtype of disorder,[Disease subtype],"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4",,,[616371],[2032],[Idiopathic pulmonary fibrosis],[8609],,,,, +GARD:16098,Active,Orphanet+OMIM,OMIM:616373,Subtype of disorder,[Disease subtype],"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3",,,[616373],[2032],[Idiopathic pulmonary fibrosis],[8609],,,,, +GARD:16099,Active,Orphanet+OMIM,OMIM:616389,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1g",,,[616389],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:161,Legacy,GARD,,,,,,,,,,,,Saul Wilkes Stevenson syndrome,TRUE,FALSE,Active +GARD:1610,Legacy,GARD,,,,,,,,,,,,Cretinism athyreotic,TRUE,FALSE,Active +GARD:16100,Active,Orphanet+OMIM,OMIM:616390,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 2, photosensitive",,"Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by {1:Faghri et al., 2008}).\n\nFor a discussion of genetic heterogeneity of TTD, see {601675}.",[616390],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:16101,Active,Orphanet+OMIM,OMIM:616394,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 71,,,[616394],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16102,Active,Orphanet+OMIM,OMIM:616395,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 3, photosensitive","[Trichothiodystrophy, complementation group a]","Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by {1:Faghri et al., 2008}).\n\nFor a discussion of genetic heterogeneity of TTD, see {601675}.",[616395],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:16103,Active,Orphanet+OMIM,OMIM:616398,Subtype of disorder,[Disease subtype],"Dystonia 26, myoclonic",,"Myoclonic dystonia-26 (DYT26) is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. The disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. Dystonia dominates the clinical picture (summary by {1:Mencacci et al., 2015}).",[616398],[36899],[Myoclonus-dystonia syndrome],[7139],,,,, +GARD:16104,Active,Orphanet+OMIM,OMIM:616399,Subtype of disorder,[Disease subtype],Brugada syndrome 9,,"Brugada syndrome is characterized by ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).",[616399],[130],[Brugada syndrome],[1030],,,,, +GARD:16105,Active,Orphanet+OMIM,OMIM:616402,Subtype of disorder,[Etiological subtype],"Microcephaly 14, primary, autosomal recessive",,,[616402],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16106,Active,Orphanet+OMIM,OMIM:616409,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 33,"[Epileptic encephalopathy, early infantile, 33]","Developmental and epileptic encephalopathy-33 (DEE33) is a neurologic disorder characterized by the onset of various types of seizures in the first months of life. Affected individuals show severe global developmental delay with impaired intellectual development and poor or absent speech (summary by {1:de Ligt et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[616409],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16107,Active,Orphanet+OMIM,OMIM:616413,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, 6",,"Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by {3:Legati et al., 2015}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600}).",[616413],[1980],[Bilateral striopallidodentate calcinosis],[6406],,,,, +GARD:16108,Active,Orphanet+OMIM,OMIM:616421,Subtype of disorder,[Disease subtype],Myoclonic-atonic epilepsy,,"Myoclonic-atonic epilepsy (MAE) is an autosomal dominant disorder characterized by onset of absence and myoclonic seizures in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of impaired intellectual development following seizure onset (summary by {1:Carvill et al., 2015}).",[616421],[1942],[Myoclonic-astatic epilepsy],[2169],,,,, +GARD:16109,Active,Orphanet+OMIM,OMIM:616425,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 10",,"46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see {163950}) (summary by {5:Mann et al., 1983}).\n\nFor a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 ({400044}).",[616425],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,,,, +GARD:1611,Active,Orphanet,ORPHA:1545,Disorder,[Malformation syndrome],Crisponi syndrome,,"Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.",,,,,,Cold-induced sweating syndrome,TRUE,FALSE,Active +GARD:16110,Active,Orphanet+OMIM,OMIM:616428,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated, with coloboma 10",,,[616428],[98938],[Colobomatous microphthalmia],[3644],,,,, +GARD:16111,Active,Orphanet+OMIM,OMIM:616435,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group t",,"Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by {1:Hira et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Fanconi anemia, see FANCA ({227650}).",[616435],[84],[Fanconi anemia],[6425],,,,, +GARD:16112,Active,Orphanet+OMIM,OMIM:616436,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 7",,"Familial temporal lobe epilepsy-7 is a form of autosomal dominant lateral temporal lobe epilepsy characterized by focal seizures with prominent auditory symptoms (summary by {1:Dazzo et al., 2015}).\n\nFor a general description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see {600512}.",[616436],[101046],[Autosomal dominant epilepsy with auditory features],[2257],,,,, +GARD:16113,Active,Orphanet+OMIM,OMIM:616437,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 3,,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by {5:Rea et al., 2014}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[616437],"[275864, 275872, 803]","[Behavioral variant of frontotemporal dementia, Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[7392, 17273, 5786]",,,,, +GARD:16114,Active,Orphanet+OMIM,OMIM:616445,Subtype of disorder,[Disease subtype],"Candidiasis, familial, 9",,,[616445],[1334],[Chronic mucocutaneous candidiasis],[1077],,,,, +GARD:16115,Active,Orphanet+OMIM,OMIM:616455,Subtype of disorder,[Malformation syndrome subtype],Zimmermann-laband syndrome 2,,,[616455],[3473],[Zimmermann-Laband syndrome],[385],,,,, +GARD:16116,Active,Orphanet+OMIM,OMIM:616461,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 8",,,[616461],[101046],[Autosomal dominant epilepsy with auditory features],[2257],,,,, +GARD:16117,Active,Orphanet+OMIM,OMIM:616462,Subtype of disorder,[Malformation syndrome subtype],"Acrofacial dysostosis, cincinnati type",,"The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects ({1:Weaver et al., 2015}).",[616462],[1200],[Burn-McKeown syndrome],[10041],,,,, +GARD:16118,Active,Orphanet+OMIM,OMIM:616468,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 6,,,[616468],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:16119,Active,Orphanet+OMIM,OMIM:616469,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 72,,,[616469],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16120,Active,Orphanet+OMIM,OMIM:616470,Subtype of disorder,[Disease subtype],Ullrich congenital muscular dystrophy 2,,,[616470],[75840],"[Congenital muscular dystrophy, Ullrich type]",[4769],,,,, +GARD:16121,Active,Orphanet+OMIM,OMIM:616471,Subtype of disorder,[Disease subtype],Bethlem myopathy 2,"[Ehlers-danlos syndrome, myopathic type, eds, myopathic type]",,[616471],[610],[Bethlem myopathy],[873],,,,, +GARD:16122,Active,Orphanet+OMIM,OMIM:616481,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 32","[Ciliary dyskinesia, primary, 32, without situs inversus]","Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by {1:Jeanson et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[616481],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16123,Active,Orphanet+OMIM,OMIM:616486,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities","[Microcephaly 15, primary, autosomal recessive]","Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) is an autosomal recessive disorder characterized by a spectrum of neurologic abnormalities apparent from early infancy. Affected individuals have impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death (summary by {3:Harel et al., 2018}).",[616486],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16124,Active,Orphanet+OMIM,OMIM:616490,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 23,,"Joubert syndrome-23 is an autosomal recessive neurodevelopmental disorder characterized by delayed development, abnormal eye movements, and abnormal breathing pattern associated with a characteristic hindbrain malformation apparent on brain imaging and known as the 'molar tooth sign.' Compared to other forms of Joubert syndrome, the phenotype is relatively mild, and other organ systems are generally not affected (summary by {1:Bachmann-Gagescu et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[616490],[475],[Joubert syndrome],[6802],,,,, +GARD:16125,Active,Orphanet+OMIM,OMIM:616502,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 21,[Retinal dystrophy with early macular involvement],,[616502],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:16126,Active,Orphanet+OMIM,OMIM:616507,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type xvii",,,[616507],[216820],[Osteogenesis imperfecta type 4],[8696],,,,, +GARD:16127,Active,Orphanet+OMIM,OMIM:616509,Subtype of disorder,[Clinical subtype],Cataract 44,[Cataract 44 and hypotrichosis],,[616509],[98994],[Total early-onset cataract],[1159],,,,, +GARD:16128,Active,Orphanet+OMIM,OMIM:616511,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 14",,,[616511],[552],[MODY],[3697],,,,, +GARD:16129,Active,Orphanet+OMIM,OMIM:616517,Subtype of disorder,[Disease subtype],Achromatopsia 7,,"Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by {2:Kohl et al., 2015}).\n\nFor a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 ({216900}).",[616517],[49382],[Achromatopsia],[15015],,,,, +GARD:1613,Active,Orphanet,ORPHA:891,Disorder,[Disease],Familial exudative vitreoretinopathy,"[Criswick-Schepens syndrome, FEVR]","Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.","[305390, 613310, 616468, 605750, 617572, 601813, 133780]",,,,,Familial exudative vitreoretinopathy,TRUE,FALSE,Active +GARD:16130,Active,Orphanet+OMIM,OMIM:616531,Subtype of disorder,[Clinical subtype],"Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities","[Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis]","Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) is a severe autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, axial hypotonia, and peripheral spasticity and hyperreflexia. Affected individuals may have feeding difficulties with gastroesophageal reflux and poor overall growth, as well as microcephaly and nonspecific dysmorphic facial features. Additional features may include nystagmus, inability to walk, ataxia, abnormal movements, and seizures. Brain imaging shows hypomyelination with decreased white matter volume, cerebral and cerebellar atrophy, and thin corpus callosum. Polymicrogyria may be observed in rare cases. Some patients have a primary immunodeficiency or gastrointestinal disturbances similar to inflammatory bowel disease (summary by {3:Verdura et al., 2021}, {2:Salter et al., 2021}).",[616531],[98889],[Bilateral perisylvian polymicrogyria],[6011],,,,, +GARD:16131,Active,Orphanet+OMIM,OMIM:616532,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7","[Herpes simplex encephalitis, susceptibility to, 5]",,[616532],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:16132,Active,Orphanet+OMIM,OMIM:616534,Subtype of disorder,[Disease subtype],"Thyroid cancer, nonmedullary, 4",,"Nonmedullary thyroid cancer (NMTC) refers to neoplasms originating from the thyroid follicular cells and represents 80 to 95% of all thyroid cancers. Approximately 5% of NMTC occurs on the background of a familial predisposition. Although papillary thyroid carcinoma (PTC) is usually the most frequent thyroid lesion in NMTC families, multinodular goiter (MNG) and follicular thyroid adenoma also occur (summary by {3:Pereira et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550}).",[616534],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:16133,Active,Orphanet+OMIM,OMIM:616535,Subtype of disorder,[Disease subtype],"Thyroid cancer, nonmedullary, 5",,"Nonmedullary thyroid cancer (NMTC) comprises cancer of follicular cell origin and accounts for more than 95% of all cases of thyroid cancer. Familial NMTC accounts for 3 to 9% of all cases of thyroid cancer and has an autosomal dominant mode of inheritance. Most cases of familial NMTC are papillary thyroid cancer (PTC), which is the most common type of thyroid cancer (summary by {1:Gara et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550}).",[616535],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,,,, +GARD:16134,Active,Orphanet+OMIM,OMIM:616538,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9","[Walker-warburg syndrome or muscle-eye brain disease, dag1-related]","Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by {1:Geis et al., 2013} and {3:Riemersma et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).",[616538],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:16135,Active,Orphanet+OMIM,OMIM:616544,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 73,,,[616544],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16136,Active,Orphanet+OMIM,OMIM:616553,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal dominant 6",,"Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by {2:Kocak et al., 2014}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[616553],"[397692, 3322]","[Hoyeraal-Hreidarsson syndrome, Hereditary isolated aplastic anemia]","[17635, 346]",,,,, +GARD:16137,Active,Orphanet+OMIM,OMIM:616559,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 9,,"Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by {1:Yamamoto et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[616559],[648],[Noonan syndrome],[10955],,,,, +GARD:16138,Active,Orphanet+OMIM,OMIM:616562,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 74,,,[616562],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16139,Active,Orphanet+OMIM,OMIM:616564,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 10,,"Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by {2:Yamamoto et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[616564],[648],[Noonan syndrome],[10955],,,,, +GARD:1614,Active,Orphanet,ORPHA:1380,Disorder,[Malformation syndrome],Cataract-nephropathy-encephalopathy syndrome,[Crome syndrome],"A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.",[218900],,,,,Crome syndrome,TRUE,FALSE,Active +GARD:16140,Active,Orphanet+OMIM,OMIM:616570,Subtype of disorder,[Clinical subtype],Cerebrooculofacioskeletal syndrome 3,,"Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by {1:Drury et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 ({214150}).",[616570],[1466],[COFS syndrome],[6027],,,,, +GARD:16141,Active,Orphanet+OMIM,OMIM:616576,Subtype of disorder,[Disease subtype],"Immunodeficiency, common variable, 12, with autoimmunity",[Nfkb1 deficiency],"Common variable immunodeficiency-12 with autoimmunity (CVID12) is an autosomal dominant complex immunologic disorder with multisystem involvement. CVID12 is mainly a primary immunodeficiency characterized by recurrent infections and associated with hypogammaglobulinemia. Notably, about half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. A smaller percentage of affected individuals (less than 20%) develop cancer, most commonly solid tumors, including lymphoma. Age at onset and disease severity are highly variable, even within the same family. There is also incomplete penetrance, such that mutation carriers may be asymptomatic, even if they have hypogammaglobulinemia. The gene involved, NFKB1, encodes a transcription factor that regulates the expression of target genes involved in the immune system, thus defining the phenotype as a disorder of immune dysregulation (summary by {2:Fliegauf et al., 2015}; {3:Lorenzini et al., 2020}).\n\nFor a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 ({607594}).",[616576],[1572],[Common variable immunodeficiency],[6140],,,,, +GARD:16142,Active,Orphanet+OMIM,OMIM:616589,Subtype of disorder,[Malformation syndrome subtype],Adams-oliver syndrome 6,,"Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by {2:Stittrich et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300}).",[616589],[974],[Adams-Oliver syndrome],[5739],,,,, +GARD:16143,Active,Orphanet+OMIM,OMIM:616603,Subtype of disorder,[Disease subtype],"Cutis laxa, autosomal dominant 3",,"Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes ({1:Fischer-Zirnsak et al., 2015}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 ({123700}).",[616603],[90348],[Autosomal dominant cutis laxa],[1639],,,,, +GARD:16144,Active,Orphanet+OMIM,OMIM:616617,Subtype of disorder,[Malformation syndrome subtype],Heimler syndrome 2,[Peroxisome biogenesis disorder 4c],"Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, {214100}), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities ({2:Ratbi et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Heimler syndrome, see HMLR1 ({234580}).",[616617],[3220],[Deafness-enamel hypoplasia-nail defects syndrome],[1687],,,,, +GARD:16145,Active,Orphanet+OMIM,OMIM:616629,Subtype of disorder,[Disease subtype],Senior-loken syndrome 9,,"Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by {2:Bizet et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see {266900}.",[616629],[3156],[Senior-Loken syndrome],[322],,,,, +GARD:16146,Active,Orphanet+OMIM,OMIM:616631,Subtype of disorder,[Disease subtype],"Porokeratosis 9, multiple types",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({1:Schamroth et al., 1997}). However, as noted by {2:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the FDPS gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP) and nonactinic disseminated superficial porokeratosis (DSP).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {174800}.",[616631],[79152],[Disseminated superficial actinic porokeratosis],[10983],,,,, +GARD:16147,Active,Orphanet+OMIM,OMIM:616645,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 34,"[Epileptic encephalopathy, early infantile, 34]","Developmental and epileptic encephalopathy-34 (DEE34) is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in the first year of life after normal early development. Affected children show developmental regression and are severely impaired globally (summary by {1:Stodberg et al., 2015}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[616645],[293181],[Malignant migrating focal seizures of infancy],[12919],,,,, +GARD:16148,Active,Orphanet+OMIM,OMIM:616648,Subtype of disorder,[Disease subtype],Optic atrophy 8,,"Optic atrophy-8 (OPA8) is an autosomal dominant neurologic disorder characterized by progressive visual loss during the first or second decade of life. Some patients may have additional features, mainly late-onset sensorineural hearing loss.\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[616648],[1215],[Autosomal dominant optic atrophy plus syndrome],[5243],,,,, +GARD:16149,Active,Orphanet+OMIM,OMIM:616649,Subtype of disorder,[Disease subtype],"Spherocytosis, type 2","[Spherocytosis, hereditary, 2]","Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by {6:Perrotta et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of hereditary spherocytosis, see {182900}.",[616649],[822],[Hereditary spherocytosis],[6639],,,,, +GARD:16150,Active,Orphanet+OMIM,OMIM:616654,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 24,,"Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by {2:Huppke et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[616654],[475],[Joubert syndrome],[6802],,,,, +GARD:16151,Active,Orphanet+OMIM,OMIM:616681,Subtype of disorder,[Etiological subtype],"Microcephaly 16, primary, autosomal recessive",,,[616681],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16152,Active,Orphanet+OMIM,OMIM:616689,Subtype of disorder,[Disease subtype],Dehydrated hereditary stomatocytosis 2,"[Xerocytosis gardos, desiccytosis gardos]","In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by {7:Rapetti-Mauss et al., 2015}).\n\nFor discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 ({194380}).",[616689],[3202],[Dehydrated hereditary stomatocytosis],[5623],,,,, +GARD:16153,Active,Orphanet+OMIM,OMIM:616720,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 19",,"Congenital myasthenic syndrome-19 (CMS19) is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by {4:Logan et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616720],"[98913, 98914]","[Presynaptic congenital myasthenic syndromes, Postsynaptic congenital myasthenic syndromes]","[15022, 15023]",,,,, +GARD:16154,Active,Orphanet+OMIM,OMIM:616726,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 33","[Ciliary dyskinesia, primary, 33, without situs inversus]","Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by {2:Olbrich et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[616726],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16155,Active,Orphanet+OMIM,OMIM:616730,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 11",,"Nephrotic syndrome type 11 (NPHS11) is an autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype ({3:Miyake et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[616730],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16156,Active,Orphanet+OMIM,OMIM:616734,Subtype of disorder,[Disease subtype],"Skin creases, congenital symmetric circumferential, 2",,"Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by {1:Isrie et al., 2015}).\n\nFor a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 ({156610}).",[616734],[2505],[Multiple benign circumferential skin creases on limbs],[3589],,,,, +GARD:16157,Active,Orphanet+OMIM,OMIM:616760,Subtype of disorder,[Disease subtype],"Woolly hair, autosomal recessive 3","[Woolly hair, autosomal recessive 3, with hypotrichosis]",,[616760],[170],[Woolly hair],[5597],,,,, +GARD:16158,Active,Orphanet+OMIM,OMIM:616777,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 9,,,[616777],[808],[Seckel syndrome],[8562],,,,, +GARD:16159,Active,Orphanet+OMIM,OMIM:616781,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 25,,"Joubert syndrome-25 is an autosomal recessive ciliopathy characterized by delayed psychomotor development and oculomotor apraxia associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. The clinical manifestations appear to be confined to the neurologic system, as patients tend not to have additional renal, liver, or limb involvement (summary by {1:Srour et al., 2015})\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[616781],[475],[Joubert syndrome],[6802],,,,, +GARD:1616,Legacy,GARD,,,,,,,,,,,,Crossed polydactyly type 1,TRUE,FALSE,Active +GARD:16160,Active,Orphanet+OMIM,OMIM:616784,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 26,,"Joubert syndrome-26 (JBTS26) is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by {2:Sanders et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.",[616784],[475],[Joubert syndrome],[6802],,,,, +GARD:16161,Active,Orphanet+OMIM,OMIM:616792,Subtype of disorder,[Disease subtype],"Neuroblastoma, susceptibility to, 7",,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700}).",[616792],[635],[Neuroblastoma],[7185],,,,, +GARD:16162,Active,Orphanet+OMIM,OMIM:616806,Subtype of disorder,[Disease subtype],Wilms tumor 6,,"Wilms tumor is the most common renal tumor of childhood, occurring with an incidence of 1 in 10,000. It is often described as an embryonal tumor, as it arises from embryonal cells in which growth and/or differentiation have become dysregulated during development (summary by {1:Mahamdallie et al., 2015}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Wilms tumor, see WT1 ({194070}).",[616806],[654],[Nephroblastoma],[7892],,,,, +GARD:16163,Active,Orphanet+OMIM,OMIM:616835,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 6,,,[616835],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:16164,Active,Orphanet+OMIM,OMIM:616849,Subtype of disorder,[Malformation syndrome subtype],"Brachydactyly, type a1, d",,,[616849],[93388],[Brachydactyly type A1],[978],,,,, +GARD:16165,Active,Orphanet+OMIM,OMIM:616882,Subtype of disorder,[Disease subtype],"Advanced sleep phase syndrome, familial, 3",,"Advanced sleep phase syndrome is characterized by early sleep time (sleep onset) and early morning awakening (sleep offset) (summary by {1:Zhang et al., 2016}).\n\nFor a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 ({604348}).",[616882],[164736],[Familial advanced sleep-phase syndrome],[9242],,,,, +GARD:16166,Active,Orphanet+OMIM,OMIM:616892,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 12",,"Nephrotic syndrome type 12 is an autosomal recessive renal disorder caused by defects in the renal glomerular filter. Affected individuals have onset of progressive renal failure in the first years of life. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) (summary by {1:Braun et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[616892],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16167,Active,Orphanet+OMIM,OMIM:616893,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 13",,"Nephrotic syndrome type 13 is a steroid-resistant form of nephrotic syndrome with focal segmental glomerulosclerosis ({1:Braun et al., 2016}).",[616893],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16168,Active,Orphanet+OMIM,OMIM:616910,Subtype of disorder,[Malformation syndrome subtype],Immunodeficiency-centromeric instability-facial anomalies syndrome 3,,"Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by {3:Thijssen et al., 2015}).\n\nFor a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 ({242860}).",[616910],[2268],[ICF syndrome],[2945],,,,, +GARD:16169,Active,Orphanet+OMIM,OMIM:616911,Subtype of disorder,[Malformation syndrome subtype],Immunodeficiency-centromeric instability-facial anomalies syndrome 4,,"Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by {1:Thijssen et al., 2015}).\n\nFor a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 ({242860}).",[616911],[2268],[ICF syndrome],[2945],,,,, +GARD:1617,Active,Orphanet,ORPHA:2935,Disorder,[Malformation syndrome],Crossed polysyndactyly,,"A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands.",[175690],,,,,Crossed polysyndactyly,TRUE,FALSE,Active +GARD:16170,Active,Orphanet+OMIM,OMIM:616938,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 5,,"Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by {3:Wieczorek et al., 2013}). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by {1:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[616938],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16171,Active,Orphanet+OMIM,OMIM:616941,Subtype of disorder,[Clinical subtype],"Agammaglobulinemia 8a, autosomal dominant","[agammaglobulinemia, autosomal dominant, due to tcf3 defect, Agm8]",,[616941],[33110],[Autosomal agammaglobulinemia],[9640],,,,, +GARD:16172,Active,Orphanet+OMIM,OMIM:616943,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 6, nonphotosensitive",,,[616943],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:16173,Active,Orphanet+OMIM,OMIM:616950,Subtype of disorder,[Disease subtype],Spermatogenic failure 15,,,[616950],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16174,Active,Orphanet+OMIM,OMIM:617004,Subtype of disorder,[Malformation syndrome subtype],Polycystic liver disease 2 with or without kidney cysts,,"PCLD2 is an autosomal dominant disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development. Abnormal biliary structures may be present early in life, but they usually remain asymptomatic until cyst growth initiates during adulthood. In advanced stages, patients may develop massively enlarged livers, which cause a spectrum of clinical features and complications. Genetic studies suggest that an accumulation of somatic hits in cyst epithelium determines the rate of cyst formation. A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by {1:Cnossen and Drenth, 2014}).\n\nFor a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 ({174050}).",[617004],[2924],[Isolated polycystic liver disease],[9457],,,,, +GARD:16175,Active,Orphanet+OMIM,OMIM:617020,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 38,"[epileptic encephalopathy, early infantile, 38, Glycosylphosphatidylinositol biosynthesis defect 23]","Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur. The disorder is associated with a defect in GPI-anchoring of membrane-bound proteins (summary by {3:Palmer et al., 2016}; {2:Davids et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[617020],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16176,Active,Orphanet+OMIM,OMIM:617023,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 75,,,[617023],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16177,Active,Orphanet+OMIM,OMIM:617024,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type 1h",,"Congenital stationary night blindness type 1H (CSNB1H) is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia ({1:Vincent et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A ({310500}).",[617024],[215],[Congenital stationary night blindness],[3995],,,,, +GARD:16178,Active,Orphanet+OMIM,OMIM:617026,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 2f",,"Pontocerebellar hypoplasia type 2F is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by {2:Breuss et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A ({277470}).",[617026],[2524],[Pontocerebellar hypoplasia type 2],[10705],,,,, +GARD:16180,Active,Orphanet+OMIM,OMIM:617050,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 10,,"Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by {1:Ammann et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300}).",[617050],[183678],[Hermansky-Pudlak syndrome due to AP-3 deficiency],[15026],,,,, +GARD:16181,Active,Orphanet+OMIM,OMIM:617063,Subtype of disorder,[Malformation syndrome subtype],Meier-gorlin syndrome 7,,,[617063],[2554],[Ear-patella-short stature syndrome],[2033],,,,, +GARD:16182,Active,Orphanet+OMIM,OMIM:617065,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 40,"[Epileptic encephalopathy, early infantile, 40]","Developmental and epileptic encephalopathy-40 (DEE40) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms within the first 6 months of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding, axial hypotonia with peripheral spasticity, limited eye contact, profoundly impaired intellectual development with absent language, and poor fine motor skills (summary by {1:Alfaiz et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617065],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:16183,Active,Orphanet+OMIM,OMIM:617069,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3","[Progressive external ophthalmoplegia, autosomal recessive 3]",,[617069],[254886],[Autosomal recessive progressive external ophthalmoplegia],[1191],,,,, +GARD:16184,Active,Orphanet+OMIM,OMIM:617075,Subtype of disorder,[Disease subtype],"Nasopharyngeal carcinoma, susceptibility to, 3",,"Nasopharyngeal carcinoma (NPCA) is a malignant tumor that emerges from the epithelium of the nasopharynx. It has a high incidence in southern China, and evidence suggests that there may be a genetic component that underlies familial clustering. Some patients have onset before 20 years of age (summary by {1:Dai et al., 2016})\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 ({607107}).",[617075],[150],[Nasopharyngeal carcinoma],[7163],,,,, +GARD:16185,Active,Orphanet+OMIM,OMIM:617088,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 15 with polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {4:Huber and Cormier-Daire, 2012} and {7:Schmidts et al., 2013}). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nSRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500}).",[617088],"[474, 289]","[Jeune syndrome, Ellis Van Creveld syndrome]","[1301, 3049]",,,,, +GARD:16186,Active,Orphanet+OMIM,OMIM:617090,Subtype of disorder,[Etiological subtype],"Microcephaly 17, primary, autosomal recessive",,"Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by {3:Harding et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[617090],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16187,Active,Orphanet+OMIM,OMIM:617091,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 34","[Ciliary dyskinesia, primary, 34, without situs inversus]","Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by {1:El Khouri et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[617091],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16188,Active,Orphanet+OMIM,OMIM:617092,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 35","[Ciliary dyskinesia, primary, 35, with or without situs inversus]","Primary ciliary dyskinesia-35 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by {1:Wallmeier et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[617092],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16189,Active,Orphanet+OMIM,OMIM:617102,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 16 with or without polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {4:Huber and Cormier-Daire, 2012} and {5:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500}).",[617102],[1515],[Cranioectodermal dysplasia],[359],,,,, +GARD:16190,Active,Orphanet+OMIM,OMIM:617105,Subtype of disorder,"[Clinical syndrome subtype, Disease subtype]",Developmental and epileptic encephalopathy 41,"[Epileptic encephalopathy, early infantile, 41]","Developmental and epileptic encephalopathy-41 (DEE41) is a neurologic disorder characterized by the onset of seizures in the first days or weeks of life. Affected infants show severely impaired psychomotor development with hypotonia, spasticity, lack of speech, poor visual fixation, feeding difficulties sometimes necessitating tube feeding, poor overall growth and microcephaly, and contractures. Brain imaging may show delayed myelination, thin corpus callosum, and cerebral atrophy (summary by the {2:EPI4K Consortium, 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617105],"[1935, 442835]","[Non-specific early-onset epileptic encephalopathy, Early myoclonic encephalopathy]","[15028, 16581]",,,,, +GARD:16191,Active,Orphanet+OMIM,OMIM:617106,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 42,"[Epileptic encephalopathy, early infantile, 42]","Developmental and epileptic encephalopathy-42 (DEE42) is a neurologic disorder characterized by the onset of various types of seizures in the first hours or days of life, although rare patients may have onset in the first weeks of life. The seizures tend to be refractory and associated with EEG abnormalities, including multifocal spikes and generalized spike-wave complexes. Affected infants show global developmental delay with severely impaired intellectual development. Other features may include axial hypotonia, peripheral hypertonia with hyperreflexia, tremor, ataxia, and abnormal eye movements (summary by the {2:Epi4K Consortium, 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617106],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16192,Active,Orphanet+OMIM,OMIM:617113,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 43,"[Epileptic encephalopathy, early infantile, 43]","Developmental and epileptic encephalopathy-43 (DEE43) is a neurologic disorder characterized by the onset of various types of seizures usually in the first year of life. The age at onset is highly variable, ranging from the neonatal period to about 12 months of age. Later onset may rarely occur. Seizure types include febrile, infantile spasms, focal, tonic-clonic, and myoclonic; they tend to be refractory to treatment. Affected individuals show global developmental delay with mild to moderate intellectual disability, although some may have normal early development before the onset of seizures. EEG shows focal, multifocal, or generalized sharp waves associated with seizures, sometimes with hypsarrhythmia. Additional more variable features include tube feeding, hypotonia, peripheral hypertonia, ataxia, dyskinesia, and behavioral difficulties, including aggression, ADHD, stereotypic, and impulsive behavior (summary by the {2:Epi4K Consortium, 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617113],[2382],[Lennox-Gastaut syndrome],[9912],,,,, +GARD:16193,Active,Orphanet+OMIM,OMIM:617119,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 22,"[Bardet-biedl syndrome 20, formerly]","Bardet-Biedl syndrome-22 (BBS22) is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability ({2:Lindstrand et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[617119],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16194,Active,Orphanet+OMIM,OMIM:617120,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 27,,,[617120],[475],[Joubert syndrome],[6802],,,,, +GARD:16195,Active,Orphanet+OMIM,OMIM:617121,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 28,,,[617121],"[475, 220493]","[Joubert syndrome, Joubert syndrome with ocular defect]","[10168, 6802]",,,,, +GARD:16196,Active,Orphanet+OMIM,OMIM:617123,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 76,,,[617123],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16197,Active,Orphanet+OMIM,OMIM:617127,Subtype of disorder,[Malformation syndrome subtype],Orofaciodigital syndrome xv,"[oral-facial-digital syndrome, type xv, Ofds xv]",,[617127],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:16198,Active,Orphanet+OMIM,OMIM:617132,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 44,"[Epileptic encephalopathy, early infantile, 44]","Developmental and epileptic encephalopathy-44 (DEE44) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms or myoclonus usually in the first weeks or months of life, up to about 12 months of age. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG in some patients shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding and poor overall growth with microcephaly, axial hypotonia with peripheral hypertonia or spasticity, abnormal movements, limited eye contact, and profoundly impaired intellectual development with absent language. Many patients require tube feeding, and some die in childhood (summary by {2:Muona et al., 2016}; {1:Colin et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617132],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16199,Active,Orphanet+OMIM,OMIM:617137,Subtype of disorder,[Disease subtype],Frontometaphyseal dysplasia 2,,"Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by {4:Wade et al., 2016}).\n\nFor a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 ({305620}).",[617137],[1826],[Frontometaphyseal dysplasia],[826],,,,, +GARD:162,Active,Orphanet,ORPHA:2013,Disorder,[Malformation syndrome],Cleft palate-large ears-small head syndrome,[Say-Barber-Hobbs syndrome],"Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.",[181180],,,,,Say syndrome,TRUE,FALSE,Active +GARD:1620,Active,Orphanet,ORPHA:1302,Disorder,[Disease],Cryptogenic organizing pneumonia,"[BOOP, Bronchiolitis obliterans organizing pneumonia, COP]","Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.",,,,,,Cryptogenic organizing pneumonia,TRUE,FALSE,Active +GARD:16200,Active,Orphanet+OMIM,OMIM:617141,Subtype of disorder,[Morphological anomaly subtype],Aniridia 2,,,[617141],[250923],[Isolated aniridia],[5816],,,,, +GARD:16201,Active,Orphanet+OMIM,OMIM:617142,Subtype of disorder,[Morphological anomaly subtype],Aniridia 3,,,[617142],[250923],[Isolated aniridia],[5816],,,,, +GARD:16202,Active,Orphanet+OMIM,OMIM:617143,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 20, presynaptic",,"Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by {1:Bauche et al., 2016}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[617143],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16203,Active,Orphanet+OMIM,OMIM:617153,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 45,"[Epileptic encephalopathy, early infantile, 45]","Developmental and epileptic encephalopathy-45 (DEE45) is a neurologic disorder characterized by global developmental delay apparent in infancy or early childhood and onset of seizures within the first 12 months of life. Affected individuals have severely impaired intellectual development, hypotonia, and other persistent neurologic deficits (summary by {1:Burgess et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617153],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16204,Active,Orphanet+OMIM,OMIM:617158,Subtype of disorder,[Disease subtype],"Myopathy, distal, with rimmed vacuoles",[Multisystem proteinopathy 4],"Distal myopathy with rimmed vacuoles (DMRV) is an autosomal dominant myopathic disorder characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles (summary by {2:Bucelli et al., 2015}).",[617158],[602],[GNE myopathy],[9493],,,,, +GARD:16205,Active,Orphanet+OMIM,OMIM:617162,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 46,"[Epileptic encephalopathy, early infantile, 46]","Developmental and epileptic encephalopathy-46 (DEE46) is a neurologic disorder characterized by the onset of intractable seizures in the first months or years of life. Affected individuals show global developmental delay with failure to thrive, hypotonia, and hyperreflexia with variably impaired intellectual development. More severely affected individuals have almost no developmental progress and are unable to sit or speak, whereas others may achieve some milestones (summary by {2:Tsuchida et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617162],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16206,Active,Orphanet+OMIM,OMIM:617166,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 47,"[Epileptic encephalopathy, early infantile, 47]","Developmental and epileptic encephalopathy-47 (DEE47) is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by {2:Guella et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617166],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16207,Active,Orphanet+OMIM,OMIM:617168,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 10","[Aortic aneurysm, thoracic, with or without aortic dissection]",,[617168],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,,,, +GARD:16208,Active,Orphanet+OMIM,OMIM:617169,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal recessive 74","[Sotos syndrome 3, formerly]","MRT74 is characterized by intellectual impairment, macrocephaly, and dysmorphic features. Epilepsy with eyelid myoclonus has also been reported ({1:Almuriekhi et al., 2015}; {2:Mastrangelo et al., 2020}).",[617169],[821],[Sotos syndrome],[10091],,,,, +GARD:16209,Active,Orphanet+OMIM,OMIM:617174,Subtype of disorder,[Disease subtype],"Ehlers-danlos syndrome, periodontal type, 2",,,[617174],[75392],[Periodontal Ehlers-Danlos syndrome],[12474],,,,, +GARD:16210,Active,Orphanet+OMIM,OMIM:617201,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 7,,"Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by {1:Broix et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.",[617201],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:16211,Active,Orphanet+OMIM,OMIM:617217,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia6",,"Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({2:Witkop, 1989}).",[617217],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,,,, +GARD:16212,Active,Orphanet+OMIM,OMIM:617239,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 21, presynaptic",,,[617239],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16213,Active,Orphanet+OMIM,OMIM:617243,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group v",,,[617243],[84],[Fanconi anemia],[6425],,,,, +GARD:16214,Active,Orphanet+OMIM,OMIM:617244,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group r",,,[617244],[84],[Fanconi anemia],[6425],,,,, +GARD:16215,Active,Orphanet+OMIM,OMIM:617247,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group u",,,[617247],[84],[Fanconi anemia],[6425],,,,, +GARD:16216,Active,Orphanet+OMIM,OMIM:617251,Subtype of disorder,[Disease subtype],Uncombable hair syndrome 2,,"Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by {2:U. Basmanav et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 ({191480}).",[617251],[1410],[Uncombable hair syndrome],[5404],,,,, +GARD:16217,Active,Orphanet+OMIM,OMIM:617252,Subtype of disorder,[Disease subtype],Uncombable hair syndrome 3,,"Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by {1:U. Basmanav et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 ({191480}).",[617252],[1410],[Uncombable hair syndrome],[5404],,,,, +GARD:16218,Active,Orphanet+OMIM,OMIM:617276,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 48,"[Epileptic encephalopathy, early infantile, 48]","Developmental and epileptic encephalopathy-48 (DEE48) is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech; poor, if any, motor development; and onset of seizures usually in the first year of life, although later onset has been reported. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by {2:Assoum et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617276],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16219,Active,Orphanet+OMIM,OMIM:617280,Subtype of disorder,[Disease subtype],"Atrial fibrillation, familial, 18",,,[617280],[334],[Familial atrial fibrillation],[9740],,,,, +GARD:16220,Active,Orphanet+OMIM,OMIM:617297,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ij",,"Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms ({2:Witkop, 1988}).",[617297],[100031],[Hypoplastic amelogenesis imperfecta],[645],,,,, +GARD:16221,Active,Orphanet+OMIM,OMIM:617304,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 77,,,[617304],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16222,Active,Orphanet+OMIM,OMIM:617336,Subtype of disorder,[Disease subtype],"Nemaline myopathy 11, autosomal recessive",,"NEM11 is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by {1:Miyatake et al., 2017}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800}).",[617336],[171439],[Childhood-onset nemaline myopathy],[7171],,,,, +GARD:16223,Active,Orphanet+OMIM,OMIM:617350,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 52,"[Epileptic encephalopathy, early infantile, 52]","Developmental and epileptic encephalopathy-52 (DEE52) is a severe autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development. Affected individuals have impaired intellectual development and may have other persistent neurologic abnormalities, including axial hypotonia and spasticity; death in childhood may occur (summary by {4:Patino et al., 2009} and {5:Ramadan et al., 2017}). Some patients with DEE52 may have a clinical diagnosis of Dravet syndrome ({607208}), which is characterized by the onset of seizures in the first year or 2 of life after normal early development. Developmental delay, impaired intellectual development, and behavioral abnormalities usually become apparent later between 1 and 4 years of age. Dravet syndrome may also include 'severe myoclonic epilepsy in infancy' (SMEI) (summary by {4:Patino et al., 2009}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[617350],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16224,Active,Orphanet+OMIM,OMIM:617389,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 53,"[Epileptic encephalopathy, early infantile, 53]","Developmental and epileptic encephalopathy-53 (DEE53) is a severe autosomal recessive neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood (summary by {1:Hardies et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617389],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16225,Active,Orphanet+OMIM,OMIM:617391,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 54,"[Epileptic encephalopathy, early infantile, 54]","Developmental and epileptic encephalopathy-54 (DEE54) is a severe neurodevelopmental disorder characterized by delayed psychomotor development, early-onset refractory seizures that are often initially febrile but later afebrile, and severe intellectual disability (summary by {2:de Kovel et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617391],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16226,Active,Orphanet+OMIM,OMIM:617406,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 21,,"BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[617406],[110],[Bardet-Biedl syndrome],[6866],,,,, +GARD:16227,Active,Orphanet+OMIM,OMIM:617408,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 16,,,[617408],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16228,Active,Orphanet+OMIM,OMIM:617409,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 17,,,[617409],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16229,Active,Orphanet+OMIM,OMIM:617433,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 78,,,[617433],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:1623,Legacy,GARD,,,,,,,,,,,,Cryptorchidism arachnodactyly mental retardation,TRUE,FALSE,Retired +GARD:16230,Active,Orphanet+OMIM,OMIM:617443,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 21",,"BDPLT21 is a hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists. Platelets are usually enlarged, and some patients may have mild to moderate thrombocytopenia (summary by {1:Saultier et al., 2017}).",[617443],[851],[Paris-Trousseau thrombocytopenia],[4224],,,,, +GARD:16231,Active,Orphanet+OMIM,OMIM:617460,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 79,,,[617460],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16232,Active,Orphanet+OMIM,OMIM:617493,Subtype of disorder,[Clinical syndrome subtype],Neurodevelopmental disorder with involuntary movements,,"NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by {1:Ananth et al., 2016} and {2:Danti et al., 2017}).",[617493],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16233,Active,Orphanet+OMIM,OMIM:617520,Subtype of disorder,[Etiological subtype],"Microcephaly 18, primary, autosomal dominant",,,[617520],[2514],[Autosomal dominant primary microcephaly],[3605],,,,, +GARD:16234,Active,Orphanet+OMIM,OMIM:617542,Subtype of disorder,[Disease subtype],"Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development",[Developmental split-brain syndrome],,[617542],[2744],[Horizontal gaze palsy with progressive scoliosis],[12682],,,,, +GARD:16235,Active,Orphanet+OMIM,OMIM:617561,Subtype of disorder,[Malformation syndrome subtype],Cohen-gibson syndrome,,"Cohen-Gibson syndrome (COGIS) is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by {3:Cooney et al., 2017}).",[617561],[3447],[Weaver syndrome],[7878],,,,, +GARD:16236,Active,Orphanet+OMIM,OMIM:617562,Subtype of disorder,[Malformation syndrome subtype],Meckel syndrome 13,,,[617562],[564],[Meckel syndrome],[3436],,,,, +GARD:16237,Active,Orphanet+OMIM,OMIM:617565,Subtype of disorder,[Disease subtype],Perrault syndrome 6,,"Perrault syndrome-6 (PRTLS6) is an autosomal recessive disorder characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility (summary by {1:Chatzispyrou et al., 2017}).",[617565],[2855],[Perrault syndrome],[2542],,,,, +GARD:16238,Active,Orphanet+OMIM,OMIM:617572,Subtype of disorder,[Disease subtype],Exudative vitreoretinopathy 7,,,[617572],[891],[Familial exudative vitreoretinopathy],[1613],,,,, +GARD:16239,Active,Orphanet+OMIM,OMIM:617577,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 37","[Ciliary dyskinesia, primary, 37, with or without situs inversus]",,[617577],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16240,Active,Orphanet+OMIM,OMIM:617598,Subtype of disorder,[Malformation syndrome subtype],Mosaic variegated aneuploidy syndrome 3,,"MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by {1:Yost et al., 2017}).\n\nFor a discussion of genetic heterogeneity of MVA, see MVA1 ({257300}).",[617598],[1052],[Mosaic variegated aneuploidy syndrome],[3007],,,,, +GARD:16241,Active,Orphanet+OMIM,OMIM:617599,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 55,"[glycosylphosphatidylinositol biosynthesis defect 14, Epileptic encephalopathy, early infantile, 55]","Developmental and epileptic encephalopathy-55 (DEE55) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks or months of life. Affected individuals have an extremely poor outcome, with profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements. Most have cortical visual impairment and require a feeding tube. Brain imaging shows nonspecific abnormalities, including cerebral atrophy, thin corpus callosum, and abnormal signals in the white matter. Death in childhood may occur. Biochemically, the disorder is associated with impaired synthesis of GPI-anchored proteins (summary by {3:Vetro et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[617599],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16242,Active,Orphanet+OMIM,OMIM:617610,Subtype of disorder,[Disease subtype],Polycystic kidney disease 5,,"PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by {1:Lu et al., 2017}).\n\nFor a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 ({173900}).",[617610],[731],[Autosomal recessive polycystic kidney disease],[8378],,,,, +GARD:16243,Active,Orphanet+OMIM,OMIM:617622,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 30,,,[617622],[475],[Joubert syndrome],[6802],,,,, +GARD:16244,Active,Orphanet+OMIM,OMIM:617681,Subtype of disorder,[Malformation syndrome subtype],Blepharocheilodontic syndrome 2,,,[617681],[1997],[Blepharo-cheilo-odontic syndrome],[2071],,,,, +GARD:16245,Active,Orphanet+OMIM,OMIM:617706,Subtype of disorder,[Disease subtype],Spermatogenic failure 22,,,[617706],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16246,Active,Orphanet+OMIM,OMIM:617707,Subtype of disorder,[Disease subtype],Spermatogenic failure 23,,,[617707],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16247,Active,Orphanet+OMIM,OMIM:617729,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 3,,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by {2:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[617729],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16248,Active,Orphanet+OMIM,OMIM:617730,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 4,,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by {1:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[617730],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16249,Active,Orphanet+OMIM,OMIM:617731,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 5,,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by {1:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[617731],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16250,Active,Orphanet+OMIM,OMIM:617760,Subtype of disorder,[Disease subtype],"Myopathy, centronuclear, 6, with fiber-type disproportion",,"CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.\n\nFor a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 ({160150}).",[617760],[2020],[Congenital fiber-type disproportion myopathy],[6161],,,,, +GARD:16251,Active,Orphanet+OMIM,OMIM:617761,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 31,,,[617761],[475],[Joubert syndrome],[6802],,,,, +GARD:16252,Active,Orphanet+OMIM,OMIM:617781,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 80,,,[617781],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16253,Active,Orphanet+OMIM,OMIM:617800,Subtype of disorder,[Etiological subtype],"Microcephaly 19, primary, autosomal recessive",,"Autosomal recessive primary microcephaly-19 (MCPH19) is a rare congenital brain defect resulting in a reduction of occipitofrontal head circumference by at least 3 standard deviations, severe developmental delay, failure to thrive, cortical blindness, and spasticity ({1:DiStasio et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[617800],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16254,Active,Orphanet+OMIM,OMIM:617808,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 6,,"Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients ({2:Shang et al., 2015}; {3:Van Paemel et al., 2017}; {1:Bramswig et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[617808],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16255,Active,Orphanet+OMIM,OMIM:617809,Subtype of disorder,[Malformation syndrome subtype],Geleophysic dysplasia 3,,,[617809],[2623],[Geleophysic dysplasia],[2449],,,,, +GARD:16256,Active,Orphanet+OMIM,OMIM:617821,Subtype of disorder,[Disease subtype],"Ehlers-danlos syndrome, arthrochalasia type, 2","[eds viib, Ehlers-danlos syndrome, type viib, autosomal dominant]","Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement ({1:Byers et al., 1997}; {4:Giunta et al., 2008}).\n\nFor a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.",[617821],[1899],[Arthrochalasia Ehlers-Danlos syndrome],[2084],,,,, +GARD:16257,Active,Orphanet+OMIM,OMIM:617825,Subtype of disorder,[Disease subtype],Glucocorticoid deficiency 5,,"Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation ({1:Prasad et al., 2014}).\n\nFor a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200}).",[617825],[361],[Familial glucocorticoid deficiency],[2498],,,,, +GARD:16258,Active,Orphanet+OMIM,OMIM:617829,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 92,"[Epileptic encephalopathy, infantile or early childhood, 2]","Developmental and epileptic encephalopathy-92 (DEE92) is characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable impairment of intellectual development. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by {1:Hamdan et al., 2017}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[617829],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16259,Active,Orphanet+OMIM,OMIM:617830,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 58,"[Epileptic encephalopathy, early infantile, 58]","Developmental and epileptic encephalopathy-58 (DEE58) is a severe neurodevelopmental disorder characterized by the onset of infantile spasms and refractory seizures in the first days or months of life. Affected individuals have global developmental delay with impaired intellectual development, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, feeding difficulties, and spasticity (summary by {1:Hamdan et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[617830],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:1626,Active,Orphanet,ORPHA:1552,Disorder,[Malformation syndrome],Currarino syndrome,[Currarino triad],"Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).",[176450],,,,,Currarino triad,TRUE,FALSE,Active +GARD:16260,Active,Orphanet+OMIM,OMIM:617831,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 55, with seizures","[Mental retardation, autosomal dominant 55, with seizures]",,[617831],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16261,Active,Orphanet+OMIM,OMIM:617836,Subtype of disorder,[Disease subtype],Developmental delay and seizures with or without movement abnormalities,,"DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).",[617836],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16262,Active,Orphanet+OMIM,OMIM:617839,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 23,,,[617839],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:16263,Active,Orphanet+OMIM,OMIM:609265,Subtype of disorder,[Disease subtype],Li-fraumeni syndrome 2,,,[609265],[524],[Li-Fraumeni syndrome],[6902],,,,, +GARD:16264,Active,Orphanet+OMIM,OMIM:617883,Subtype of disorder,[Malformation syndrome subtype],"Fanconi anemia, complementation group s",,"Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by {2:Freire et al., 2018}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.",[617883],[84],[Fanconi anemia],[6425],,,,, +GARD:16265,Active,Orphanet+OMIM,OMIM:617892,Subtype of disorder,[Disease subtype],"Amyotrophic lateral sclerosis, susceptibility to, 24",,"Amyotrophic lateral sclerosis-24 (ALS24) is a fatal neurodegenerative disease characterized by adult-onset loss of motor neurons ({1:Brenner et al., 2016}).",[617892],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:16266,Active,Orphanet+OMIM,OMIM:617899,Subtype of disorder,[Disease subtype],"Leukodystrophy, hypomyelinating, 14",,"Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by {1:Hamilton et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.",[617899],[139441],[Hypomyelination with atrophy of basal ganglia and cerebellum],[10917],,,,, +GARD:16267,Active,Orphanet+OMIM,OMIM:617900,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8","[Herpes simplex encephalitis, susceptibility to, 6]",,[617900],[1930],[Herpes simplex virus encephalitis],[6649],,,,, +GARD:16268,Active,Orphanet+OMIM,OMIM:617914,Subtype of disorder,[Etiological subtype],"Microcephaly 20, primary, autosomal recessive",,,[617914],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16269,Active,Orphanet+OMIM,OMIM:617924,Subtype of disorder,[Disease subtype],"Epilepsy, juvenile myoclonic, susceptibility to, 10",,"Juvenile myoclonic epilepsy-10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. The age of onset also shows great variability: some patients present in the first years of life, whereas other have onset of seizures in teenage years. EEG typically shows 3.5 to 5 Hz polyspike wave discharges. There is evidence of incomplete penetrance (summary by {1:Bailey et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}.",[617924],[307],[Juvenile myoclonic epilepsy],[6808],,,,, +GARD:16270,Active,Orphanet+OMIM,OMIM:617929,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 60,"[Epileptic encephalopathy, early infantile, 60]","Developmental and epileptic encephalopathy-60 (DEE60) is an autosomal recessive neurologic disorder characterized by the onset of infantile spasms, seizures, or myoclonus in the first months of life. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severe global developmental delay with inability to sit, walk, or speak. Brain imaging may show brain atrophy and hippocampal malrotation (summary by {1:Mutoh et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[617929],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:16271,Active,Orphanet+OMIM,OMIM:617938,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 62,"[Epileptic encephalopathy, early infantile, 62]","Developmental and epileptic encephalopathy-62 (DEE62) is a severe neurologic disorder characterized by the onset of various types of refractory seizures in the first weeks or months of life. Affected individuals have severe to profound developmental delay with hypotonia and impaired motor and cognitive development. Additional features may include spasticity, microcephaly, and brain imaging abnormalities (summary by {1:Zaman et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[617938],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16272,Active,Orphanet+OMIM,OMIM:617941,Subtype of disorder,[Disease subtype],Shwachman-diamond syndrome 2,,"Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({2:Stepensky et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 ({260400}).",[617941],[811],[Shwachman-Diamond syndrome],[4863],,,,, +GARD:16273,Active,Orphanet+OMIM,OMIM:617948,Subtype of disorder,[Disease subtype],Elliptocytosis 3,,"Hereditary elliptocytosis-3 (EL3) is a hemolytic disorder characterized by the presence of elliptical erythrocytes and resulting in some cases in hemolytic anemia (summary by {12:Qualtieri et al., 1997}).\n\nFor a general description and a discussion of genetic heterogeneity of hereditary elliptocytosis (HE), see EL1 ({611804}).",[617948],[288],[Hereditary elliptocytosis],[6621],,,,, +GARD:16274,Active,Orphanet+OMIM,OMIM:617960,Subtype of disorder,[Disease subtype],Spermatogenic failure 25,,"Spermatogenic failure-25 is characterized by small testes and infertility, with severe oligozoospermia or azoospermia due to maturation arrest at the primary spermatocyte stage ({2:Okutman et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617960],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16275,Active,Orphanet+OMIM,OMIM:617970,Subtype of disorder,[Disease subtype],"Rh-null, amorph type",,"The RH-null phenotype designates rare individuals whose red blood cells lack all Rh antigens. Two RH-null types, the regulator type ({268150}) and the amorph type, arising from independent genetic mechanisms have been distinguished. The regulator type is caused by mutation in the RHAG gene ({180297}). The amorph type arises from mutations at the RH locus itself that silence Rh expression. The RH locus contains the RHD ({111680}) and RHCE genes tandemly arranged at chromosome 1p36-p34. Four genes must therefore be silenced to produce the RH-null phenotype. The absence of the D antigen, produced by the RHD gene, is common in the human population; the D-negative phenotype may result from deletion or genetic alteration of the RHD gene. The RH-null amorph phenotype thus arises from inactivating mutations in RHCE on a D-negative background (summary by {2:Huang et al., 1998}, {3:Huang et al., 2000}).\n\nClinically, Rh-null patients present mild to moderate hemolytic anemia; cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. Rh-null patients rarely develop antibodies without stimulation, and most cases occur in response to pregnancy or transfusion ({8:Silvy et al., 2015}).",[617970],[71275],[Rh deficiency syndrome],[12916],,,,, +GARD:16276,Active,Orphanet+OMIM,OMIM:617971,Subtype of disorder,[Disease subtype],"Methemoglobinemia, beta type",,"Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit ({141800}), cyanosis is apparent at birth, whereas if the beta chain is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; {142250}), cyanosis disappears when the complete gamma-beta-switch occurs (summary by {3:Mansouri and Lurie, 1993}).",[617971],[330041],[Hemoglobin M disease],[13007],,,,, +GARD:16277,Active,Orphanet+OMIM,OMIM:617973,Subtype of disorder,[Disease subtype],"Methemoglobinemia, alpha type",,"Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit, cyanosis is apparent at birth, whereas if the beta chain ({141900}) is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; {142250}), cyanosis disappears when the complete gamma-beta-switch occurs (summary by {3:Mansouri and Lurie, 1993}).",[617973],[330041],[Hemoglobin M disease],[13007],,,,, +GARD:16278,Active,Orphanet+OMIM,OMIM:617983,Subtype of disorder,[Etiological subtype],"Microcephaly 21, primary, autosomal recessive",,,[617983],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16279,Active,Orphanet+OMIM,OMIM:617984,Subtype of disorder,[Etiological subtype],"Microcephaly 22, primary, autosomal recessive",,,[617984],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16280,Active,Orphanet+OMIM,OMIM:617985,Subtype of disorder,[Etiological subtype],"Microcephaly 23, primary, autosomal recessive",,,[617985],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16281,Active,Orphanet+OMIM,OMIM:617993,Subtype of disorder,[Clinical subtype],"Tumoral calcinosis, hyperphosphatemic, familial, 2",,"Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone ({3:Chefetz et al., 2005}). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 ({601756}) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement ({4:Frishberg et al., 2005}), {5:Ichikawa et al. (2010)} concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.\n\nHFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; {193100}), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption ({3:Chefetz et al., 2005}; {6:Ichikawa et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see {211900}.",[617993],[306661],[Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome],[10879],,,,, +GARD:16282,Active,Orphanet+OMIM,OMIM:617994,Subtype of disorder,[Clinical subtype],"Tumoral calcinosis, hyperphosphatemic, familial, 3",,"Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone ({1:Chefetz et al., 2005}). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 ({605380}) or GALNT3 ({601756}) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement ({2:Frishberg et al., 2005}), {3:Ichikawa et al. (2010)} concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.\n\nHFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; {193100}), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption ({1:Chefetz et al., 2005}; {5:Ichikawa et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see {211900}.",[617994],[306661],[Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome],[10879],,,,, +GARD:16283,Active,Orphanet+OMIM,OMIM:618008,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 65,"[Epileptic encephalopathy, early infantile, 65]","Developmental and epileptic encephalopathy-65 (DEE65) is characterized by onset of intractable seizures of various types usually within the first months or years of life, severe to profound psychomotor developmental delay, and mild facial dysmorphism (summary by {1:Nakashima et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618008],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16284,Active,Orphanet+OMIM,OMIM:618011,Subtype of disorder,[Disease subtype],Hyperekplexia 4,,"Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).\n\nFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 ({149400}).",[618011],[3197],[Hereditary hyperekplexia],[3129],,,,, +GARD:16285,Active,Orphanet+OMIM,OMIM:618012,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 93,,"Developmental and epileptic encephalopathy (DEE93) is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by {1:Fassio et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[618012],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16286,Active,Orphanet+OMIM,OMIM:618021,Subtype of disorder,[Malformation syndrome subtype],Tetraamelia syndrome 2,[Tetraamelia syndrome 2 with pulmonary agenesis],"Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia ({3:Szenker-Ravi et al., 2018}).\n\nFor a discussion of genetic heterogeneity of TETAMS, see {273395}.",[618021],[3301],[Tetraamelia-multiple malformations syndrome],[386],,,,, +GARD:16287,Active,Orphanet+OMIM,OMIM:618027,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 7,,"Coffin-Siris syndrome-7 (CSS7) is a neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by {1:Vasileiou et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[618027],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16288,Active,Orphanet+OMIM,OMIM:618063,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 38","[Ciliary dyskinesia, primary, 38, with or without situs inversus]","Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by {1:Fassad et al., 2018} and {2:Hoben et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[618063],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16289,Active,Orphanet+OMIM,OMIM:618065,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1d",,"Pontocerebellar hypoplasia type 1D (PCH1D) is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by {2:Burns et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[618065],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:1629,Active,Orphanet,ORPHA:423717,Disorder,[Disease],Cutaneous larva migrans,,"Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpiginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.",,,,,,Cutaneous larva migrans,TRUE,FALSE,Active +GARD:16290,Active,Orphanet+OMIM,OMIM:618086,Subtype of disorder,[Disease subtype],Spermatogenic failure 28,,"Spermatogenic failure-28 (SPGF28) is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue ({1:Kasak et al., 2018}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618086],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16291,Active,Orphanet+OMIM,OMIM:618110,Subtype of disorder,[Disease subtype],Spermatogenic failure 30,,"Spermatogenic failure-30 is characterized by male infertility due to nonobstructive azoospermia or cryptozoospermia. The few sperm that have been observed are immotile and have small heads. Testicular histology in azoospermic patients shows incomplete maturation arrest, with a Sertoli cell-only pattern in some areas ({1:Arafat et al., 2017}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see {258150}.",[618110],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16292,Active,Orphanet+OMIM,OMIM:618115,Subtype of disorder,[Disease subtype],Spermatogenic failure 32,,"Spermatogenic failure-32 (SPGF32) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern ({1:Choi et al., 2010}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see {258150}.",[618115],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16293,Active,Orphanet+OMIM,OMIM:618123,Subtype of disorder,[Malformation syndrome subtype],"Polydactyly, postaxial, type a8",,"Postaxial polydactyly type A8 is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails ({1:Palencia-Campos et al., 2017}).\n\nFor a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[618123],[289],[Ellis Van Creveld syndrome],[1301],,,,, +GARD:16294,Active,Orphanet+OMIM,OMIM:618135,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8","[muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related, Muscular dystrophy, limb-girdle, autosomal recessive 24]","MDDGC8 is an autosomal recessive muscular dystrophy with onset in childhood. The phenotype is highly variable: some patients may have gait difficulties and impaired intellectual development, whereas others may be clinically asymptomatic. Common features include calf hypertrophy and increased serum creatine kinase, and muscle biopsy often shows dystrophic features (summary by {1:Endo et al., 2015}). The disorder is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' ({2:Godfrey et al., 2007}).\n\nFor a discussion of genetic heterogeneity of muscular dystrophy- dystroglycanopathy type C, see MDDGC1 ({609308}).",[618135],[899],[Walker-Warburg syndrome],[2599],,,,, +GARD:16295,Active,Orphanet+OMIM,OMIM:618141,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 67,"[Epileptic encephalopathy, early infantile, 67]","Developmental and epileptic encephalopathy-67 (DEE67) is characterized by the onset of various types of seizures in the first months of life, although later onset may occur in milder cases. The seizures tend to be resistant to treatment. Affected individuals have global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior (summary by {2:Chatron et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618141],[2382],[Lennox-Gastaut syndrome],[9912],,,,, +GARD:16296,Active,Orphanet+OMIM,OMIM:618154,Subtype of disorder,[Malformation syndrome subtype],Hennekam lymphangiectasia-lymphedema syndrome 3,,"Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity ({1:Brouillard et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 ({235510}).",[618154],[2136],[Hennekam syndrome],[3318],,,,, +GARD:16297,Active,Orphanet+OMIM,OMIM:618161,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 35,,"Joubert syndrome-35 is an autosomal recessive disorder characterized by brain malformations that result in developmental delay, oculomotor apraxia, and hypotonia. Some patients have renal and retinal involvement ({1:Alkanderi et al., 2018}).\n\nFor a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300}).",[618161],[475],[Joubert syndrome],[6802],,,,, +GARD:16298,Active,Orphanet+OMIM,OMIM:618173,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 83,,"Retinitis pigmentosa-83 (RP83) is characterized by onset of night blindness in the first decade of life, with decreased central vision in the second decade of life in association with retinal degeneration. The retinal dystrophy is associated with cataract, and macular edema has also been reported in some patients ({1:Holtan et al., 2019}).",[618173],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16299,Active,Orphanet+OMIM,OMIM:618176,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 17",,"NPHS17, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis ({1:Braun et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[618176],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:163,Legacy,GARD,,,,,,,,,,,,Schizophrenia mental retardation deafness retinitis,TRUE,FALSE,Retired +GARD:16300,Active,Orphanet+OMIM,OMIM:618177,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 18",,"NPHS18, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis ({1:Braun et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[618177],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16301,Active,Orphanet+OMIM,OMIM:618178,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 19",,"NPHS19, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis (summary by {1:Braun et al., 2018}).",[618178],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16302,Active,Orphanet+OMIM,OMIM:618179,Subtype of disorder,"[Etiological subtype, Disease subtype]","Microcephaly 24, primary, autosomal recessive",,,[618179],"[2512, 656]","[Genetic steroid-resistant nephrotic syndrome, Autosomal recessive primary microcephaly]","[12117, 3946]",,,,, +GARD:16303,Active,Orphanet+OMIM,OMIM:618185,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 8,,"Periventricular nodular heterotopia-8 (PVNH8) is a neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. Three patients have been reported ({1:Ge et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see PVNH1 ({300049}).",[618185],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:16304,Active,Orphanet+OMIM,OMIM:618188,Subtype of disorder,[Disease subtype],"Hyperparathyroidism, transient neonatal",,"Transient neonatal hyperparathyroidism is characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Because 80% of calcium is transferred during the third trimester, abnormalities may not be detected on second-trimester ultrasounds. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally, with most patients showing complete resolution of skeletal abnormalities by 2 years of age ({1:Suzuki et al., 2018}).",[618188],[417],[Neonatal severe primary hyperparathyroidism],[2838],,,,, +GARD:16305,Active,Orphanet+OMIM,OMIM:618189,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 2c",,"CMD2C is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years. Affected individuals exhibit reduction in coenzyme A (CoA) levels. Some severely affected children die in the first few years of life ({1:Iuso et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see {115200}.",[618189],[154],[Familial isolated dilated cardiomyopathy],[2905],,,,, +GARD:16306,Active,Orphanet+OMIM,OMIM:618195,Subtype of disorder,[Disease subtype],Intellectual developmental disorder and retinitis pigmentosa,,"Intellectual developmental disorder and retinitis pigmentosa (IDDRP) is characterized by mild to moderate intellectual disability and typical features of RP. Patients experience reduced night vision, constriction of visual fields, and reduced visual acuity; optic disc pallor, attenuated retinal blood vessels, and bone-spicule pigmentation are seen on funduscopy. Attention-deficit/hyperactivity disorder is observed in some patients ({1:Tatour et al., 2017}).",[618195],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16307,Active,Orphanet+OMIM,OMIM:618196,Subtype of disorder,[Morphological anomaly subtype],Capillary malformation-arteriovenous malformation 2,,"Capillary malformation-arteriovenous malformation-2 (CMAVM2) is an autosomal dominant disorder with variable expressivity. Patients have small multifocal cutaneous capillary malformations (CMs) on the head, neck, trunk, and/or extremities, sometimes in association with arteriovenous malformations (AVMs), which are typically located in the brain, face, or extremities. Some affected individuals also exhibit Parkes Weber lesions of the extremities, and vein of Galen aneurysmal malformations (VGAMs) are present in some patients ({1:Amyere et al., 2017}).\n\nFor a discussion of genetic heterogeneity of CMAVM, see {608354}.",[618196],[1053],[Vein of Galen aneurysmal malformation],[5467],,,,, +GARD:16308,Active,Orphanet+OMIM,OMIM:618197,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 23, presynaptic",,,[618197],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16309,Active,Orphanet+OMIM,OMIM:618198,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 24, presynaptic",,,[618198],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:1631,Legacy,GARD,,,,,,,,,,,,"Cushing syndrome, familial",TRUE,FALSE,Retired +GARD:16310,Active,Orphanet+OMIM,OMIM:618201,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 68,"[Epileptic encephalopathy, early infantile, 68]","Developmental and epileptic encephalopathy-68 (DEE68) is an autosomal recessive neurologic disorder characterized by onset of twitching and/or myoclonic jerks in infancy. The disorder progresses to refractory generalized tonic-clonic seizures, often resulting in status epilepticus, loss of developmental milestones, and early death. Other features include delayed development, axial hypotonia, spasticity of the limbs, and clonus. Brain imaging may show cortical atrophy (summary by {2:Barel et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618201],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16311,Active,Orphanet+OMIM,OMIM:618220,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 84,,"RP84 is an autosomal recessive, early-onset form of retinitis pigmentosa, with onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7. Some patients retain light perception ({1:Ajmal et al., 2014}; {2:Latif et al., 2018}).",[618220],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16312,Active,Orphanet+OMIM,OMIM:618222,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 2",,,[618222],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16313,Active,Orphanet+OMIM,OMIM:618224,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 3",,,[618224],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16314,Active,Orphanet+OMIM,OMIM:618225,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 4",,,[618225],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16315,Active,Orphanet+OMIM,OMIM:618226,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 5",,,[618226],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16316,Active,Orphanet+OMIM,OMIM:618228,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 6",,,[618228],"[70474, 255241, 2609]","[Leigh syndrome with cardiomyopathy, Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908, 16685]",,,,, +GARD:16317,Active,Orphanet+OMIM,OMIM:618229,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 7",,,[618229],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16318,Active,Orphanet+OMIM,OMIM:618230,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 8",,,[618230],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16319,Active,Orphanet+OMIM,OMIM:618232,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 9",,,[618232],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16320,Active,Orphanet+OMIM,OMIM:618233,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 10",,,[618233],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16321,Active,Orphanet+OMIM,OMIM:618234,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 11",,,[618234],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16322,Active,Orphanet+OMIM,OMIM:618236,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 14",,,[618236],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16323,Active,Orphanet+OMIM,OMIM:618237,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 15",,,[618237],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16324,Active,Orphanet+OMIM,OMIM:618238,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 16",,,[618238],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16325,Active,Orphanet+OMIM,OMIM:618240,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 18",,,[618240],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16326,Active,Orphanet+OMIM,OMIM:618241,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 19",,,[618241],"[255241, 2609]","[Isolated complex I deficiency, Leigh syndrome with leukodystrophy]","[17238, 3908]",,,,, +GARD:16327,Active,Orphanet+OMIM,OMIM:618242,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 21",,,[618242],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16328,Active,Orphanet+OMIM,OMIM:618245,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 24",,,[618245],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16329,Active,Orphanet+OMIM,OMIM:618246,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 25",,,[618246],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:1633,Active,Orphanet,ORPHA:2881,Disorder,[Disease],Cutaneous photosensitivity-lethal colitis syndrome,,A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.,[219095],,,,,"Cutaneous photosensitivity and colitis, lethal",TRUE,FALSE,Active +GARD:16330,Active,Orphanet+OMIM,OMIM:618250,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 29",,,[618250],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16331,Active,Orphanet+OMIM,OMIM:618251,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 31",,,[618251],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16332,Active,Orphanet+OMIM,OMIM:618253,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 33",,,[618253],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16333,Active,Orphanet+OMIM,OMIM:618264,Subtype of disorder,[Disease subtype],Mirror movements 4,,"Congenital mirror movements-4 is an autosomal dominant condition characterized by involuntary movements on either side of the body that accompany and mirror intentional movements on the opposite side. Mirror movements usually involve the upper limb and hands, resulting in difficulty performing pure unimanual movements. The pathophysiology is probably related to developmental abnormalities of fiber decussation in the corticospinal tract (summary by {1:Meneret et al., 2017}).\n\nFor a discussion of genetic heterogeneity of mirror movements, see MRMV1 ({157600}).",[618264],[238722],[Familial congenital mirror movements],[12551],,,,, +GARD:16334,Active,Orphanet+OMIM,OMIM:618267,Subtype of disorder,[Disease subtype],"Epidermodysplasia verruciformis, susceptibility to, 3",,"Epidermodysplasia verruciformis-3 is characterized by onset in childhood or early adulthood of persistent disseminated flat warts and pityriasis versicolor-like lesions of the skin that are induced by cutaneous human papillomaviruses (HPVs) of the beta genus. Some patients develop nonmelanoma skin cancer, particularly on areas of the body exposed to the sun. Patients are otherwise healthy and normally resistant to other microorganisms, including other viruses and skintropic pathogens, and even all other cutaneous and mucosal HPVs ({1:de Jong et al., 2018}).\n\nFor a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 ({226400}).",[618267],[302],[Epidermodysplasia verruciformis],[6357],,,,, +GARD:16335,Active,Orphanet+OMIM,OMIM:618275,Subtype of disorder,[Disease subtype],Hypotrichosis 14,,"Hypotrichosis-14 (HYPT14) is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair ({2:Romano et al., 2018}).\n\nFor a discussion of genetic heterogeneity of hypotrichosis, see HYPT1 ({605389}).",[618275],[55654],[Hypotrichosis simplex],[9170],,,,, +GARD:16336,Active,Orphanet+OMIM,OMIM:618298,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 70,"[Epileptic encephalopathy, early infantile, 70]","Developmental and epileptic encephalopathy-70 (DEE70) is neurologic disorder characterized by the onset of epileptic spasms or seizures in the first months of life. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills; intellectual impairment ranges from moderate to severe (summary by {2:Hamada et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[618298],[3451],[Infantile spasms syndrome],[7887],,,,, +GARD:16337,Active,Orphanet+OMIM,OMIM:618309,Subtype of disorder,[Disease subtype],"Epidermodysplasia verruciformis, susceptibility to, 5",,"Epidermodysplasia verruciformis-5 is an autosomal recessive immunologic disorder characterized by onset of warts and verrucous or plaque-like skin lesions associated with HPV infection. Immunologic workup shows T-cell lymphopenia, particularly affecting CD4+ T cells. There is an increased risk of skin malignancy, and some patients may have other symptoms of immune dysfunction (summary by {1:Horev et al., 2015}).\n\nFor a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 ({226400}).",[618309],[302],[Epidermodysplasia verruciformis],[6357],,,,, +GARD:16338,Active,Orphanet+OMIM,OMIM:618310,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 18,,,[618310],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16339,Active,Orphanet+OMIM,OMIM:618312,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 19,,,[618312],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16340,Active,Orphanet+OMIM,OMIM:618313,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 20,,,[618313],[124],[Blackfan-Diamond anemia],[6274],,,,, +GARD:16341,Active,Orphanet+OMIM,OMIM:618323,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 25, presynaptic",,"Congenital myasthenic syndrome-25 is an autosomal recessive neuromuscular disorder characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine. Pyridostigmine treatment may be partially effective (summary by {4:Shen et al., 2017}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[618323],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,,,, +GARD:16342,Active,Orphanet+OMIM,OMIM:618345,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 85,,,[618345],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16343,Active,Orphanet+OMIM,OMIM:618347,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 6,,"Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with GAMOS6 also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported (summary by {1:Braun et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[618347],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16344,Active,Orphanet+OMIM,OMIM:618348,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 7,,"Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome (summary by {4:Rosti et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[618348],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16345,Active,Orphanet+OMIM,OMIM:618349,Subtype of disorder,[Malformation syndrome subtype],Galloway-mowat syndrome 8,,"Galloway-Mowat syndrome-8 is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood (summary by {1:Fujita et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300}).",[618349],[2065],[Galloway-Mowat syndrome],[65],,,,, +GARD:16346,Active,Orphanet+OMIM,OMIM:618351,Subtype of disorder,[Etiological subtype],"Microcephaly 25, primary, autosomal recessive",,,[618351],[2512],[Autosomal recessive primary microcephaly],[12117],,,,, +GARD:16347,Active,Orphanet+OMIM,OMIM:618362,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 8,,"Coffin-Siris syndrome-8 is characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities. Dysmorphic features may or may not be present and include hypertrichosis or thin scalp hair, thick eyebrows, thin upper vermilion, and upturned nose ({1:Machol et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[618362],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16348,Active,Orphanet+OMIM,OMIM:618395,Subtype of disorder,[Disease subtype],"Spondyloepimetaphyseal dysplasia with joint laxity, type 3",,"Spondyloepimetaphyseal dysplasia with joint laxity-3 (SEMDJL3) is characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones ({2:Girisha et al., 2016}).\n\nFor a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 ({271640}).",[618395],[93359],[Spondyloepimetaphyseal dysplasia with joint laxity],[4982],,,,, +GARD:16349,Active,Orphanet+OMIM,OMIM:618396,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 74,"[Epileptic encephalopathy, early infantile, 74]","Developmental and epileptic encephalopathy-74 (DEE74) is neurologic disorder characterized by the onset of refractory seizures in the first months of life. Seizure types are variable and include infantile spasms, myoclonic, tonic, atonic, and absence, often with secondary generalization. Affected individuals have severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language (summary by {1:Shen et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618396],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:1635,Legacy,GARD,,,,,,,,,,,,Cutis gyratum acanthosis nigricans craniosynostosis,TRUE,FALSE,Active +GARD:16350,Active,Orphanet+OMIM,OMIM:618415,Subtype of disorder,[Clinical subtype],Cataract 48,,"Cataract-48 (CTRCT48) is characterized by infantile or early-childhood cataracts and visual impairment ({1:Ansar et al., 2018}).",[618415],[98994],[Total early-onset cataract],[1159],,,,, +GARD:16351,Active,Orphanet+OMIM,OMIM:618435,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, distal, type 2b2",,"Distal arthrogryposis type 2B2 (DA2B2) is characterized by congenital contractures of the distal limb joints and facial dysmorphism. Marked inter- and intrafamilial variability has been reported (summary by {1:Daly et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see {108120}.",[618435],"[1146, 1147]","[Sheldon-Hall syndrome, Distal arthrogryposis type 1]","[16556, 787]",,,,, +GARD:16352,Active,Orphanet+OMIM,OMIM:618437,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 75,"[Epileptic encephalopathy, early infantile, 75]","Developmental and epileptic encephalopathy-75 (DEE75) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by onset of severe refractory seizures in the first months of life. Patients often have global developmental delay before the onset of seizures, and thereafter achieve few milestones. EEG usually shows multifocal spikes and hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. They have severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia. Brain imaging shows progressive cerebral atrophy, frontal lobe atrophy, white matter abnormalities, and delayed myelination. Since the disorder is due to mitochondrial dysfunction, some patients may develop other organ involvement, including cardiomyopathy or liver and renal dysfunction. Death may occur in childhood (summary by {6:Yin et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618437],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16353,Active,Orphanet+OMIM,OMIM:618449,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 41",,"Ciliary dyskinesia-41 (CILD41) is an autosomal recessive disorder characterized by chronic sinusitis, otitis media, and bronchiectasis ({1:Bustamante-Marin et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[618449],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16354,Active,Orphanet+OMIM,OMIM:618464,Subtype of disorder,[Disease subtype],Paragangliomas 6,,"Paragangliomas-6 (PGL6) is an adult-onset tumor predisposition syndrome in which affected individuals develop neuroendocrine neoplasms, known as paragangliomas. Many tumors arise in the abdomen, although some may arise in other regions, including the head and neck. Some of the tumors may secrete biologically active normetanephrines, resulting in secondary hypertension. Tumors may be benign or malignant, and some may metastasize (summary by {1:Buffet et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 ({168000}).",[618464],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,,,, +GARD:16355,Active,Orphanet+OMIM,OMIM:618468,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 76,"[developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination, Epileptic encephalopathy, early infantile, 76]","Developmental and epileptic encephalopathy-76 (DEE76) is an autosomal recessive neurodevelopmental disorder characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging, mainly cerebral atrophy and delayed myelination. Some patients may have additional features, such as scoliosis or microcephaly. The disorder may result in death in childhood (summary by {1:Bell et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618468],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16356,Active,Orphanet+OMIM,OMIM:618475,Subtype of disorder,[Disease subtype],Paragangliomas 7,,"Paragangliomas-7 (PGL7) is an autosomal dominant tumor predisposition syndrome in which affected individuals develop adult-onset neuroendocrine neoplasms, know as paragangliomas. Most tumors arise in the abdomen, secrete normetanephrine, and follow a benign disease course (summary by {1:Remacha et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 ({168000}).",[618475],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,,,, +GARD:16357,Active,Orphanet+OMIM,OMIM:618499,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 11,,"Noonan syndrome-11 (NS11) is characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and a consistent cardiac phenotype of cardiac hypertrophy ({1:Higgins et al., 2017}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[618499],[648],[Noonan syndrome],[10955],,,,, +GARD:16358,Active,Orphanet+OMIM,OMIM:618506,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 10,,"Coffin-Siris syndrome-10 is characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present ({1:Zawerton et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[618506],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16359,Active,Orphanet+OMIM,OMIM:618513,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 19,,"Leber congenital amaurosis-19 (LCA19) is characterized by reduced vision in early childhood and severely reduced responses of both rods and cones on electroretinography ({2:Yi et al., 2019}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[618513],[65],[Leber congenital amaurosis],[634],,,,, +GARD:16360,Active,Orphanet+OMIM,OMIM:618534,Subtype of disorder,[Disease subtype],Immunodeficiency 64,,"Immunodeficiency-64 (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity (summary by {4:Salzer et al., 2016}, {1:Mao et al., 2018}, and {5:Winter et al., 2018}).",[618534],[3261],[Autoimmune lymphoproliferative syndrome],[8686],,,,, +GARD:16361,Active,Orphanet+OMIM,OMIM:618535,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 15, hypohidrotic/hair type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nEctodermal dysplasia-15 (ECTD15) is characterized by hypotrichosis that develops in early childhood and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia ({1:van den Bogaard et al., 2019}).",[618535],[248],[Autosomal recessive hypohidrotic ectodermal dysplasia],[2057],,,,, +GARD:16362,Active,Orphanet+OMIM,OMIM:618546,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 7, nonphotosensitive",,"Nonphotosensitive trichothiodystrophy-7 (TTD7) is an autosomal recessive disorder characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis ({1:Theil et al., 2019}).\n\nFor a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.",[618546],[33364],[Trichothiodystrophy],[12109],,,,, +GARD:16363,Active,Orphanet+OMIM,OMIM:618548,Subtype of disorder,[Clinical syndrome subtype],Multiple congenital anomalies-hypotonia-seizures syndrome 4,"[developmental and epileptic encephalopathy 77, Glycosylphosphatidylinositol biosynthesis defect 19, epileptic encephalopathy, early infantile, 77]","Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months of life. Patients have severe global developmental delay, and may have additional variable features, including dysmorphic or coarse facial features, visual defects, and mild skeletal or renal anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by {4:Starr et al., 2019}).\n\nFor a discussion of genetic heterogeneity of MCAHS, see MCAHS1 ({614080}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[618548],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16364,Active,Orphanet+OMIM,OMIM:618555,Subtype of disorder,[Disease subtype],"Night blindness, congenital stationary, type1i",,"Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Older patients may show retinitis pigmentosa-like retinal degeneration ({1:Stunkel et al., 2018}).",[618555],[1872],[Cone rod dystrophy],[10790],,,,, +GARD:16365,Active,Orphanet+OMIM,OMIM:618557,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 78,"[Epileptic encephalopathy, early infantile, 78]","Developmental and epileptic encephalopathy-78 (DEE78) is a severe neurologic disorder characterized by onset of refractory seizures in the first days or months of life followed by severely impaired intellectual development. Additional features may include cortical visual impairment, hypotonia, and abnormal movements, such as spasticity (summary by {1:Butler et al., 2018}). One family with an attenuated disease course has been reported ({2:Maljevic et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618557],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16366,Active,Orphanet+OMIM,OMIM:618559,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 79,"[Epileptic encephalopathy, early infantile, 79]","Developmental and epileptic encephalopathy-79 (DEE79) is a severe neurologic disorder characterized by onset of refractory seizures in the first months of life. Affected individuals have severely impaired psychomotor development and may show hypotonia or spasticity. Brain imaging may show hypomyelination, cerebral atrophy, and thinning of the corpus callosum (summary by {1:Butler et al., 2018} and {2:Hernandez et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[618559],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16367,Active,Orphanet+OMIM,OMIM:618587,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 60, with seizures","[Mental retardation, autosomal dominant 60, with seizures]","Autosomal dominant intellectual developmental disorder-60 with seizures is characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life. Patients have delayed walking, an ataxic gait, and moderately to severely impaired intellectual development with poor speech (summary by {1:Helbig et al., 2019}).",[618587],[1942],[Myoclonic-astatic epilepsy],[2169],,,,, +GARD:16368,Active,Orphanet+OMIM,OMIM:618613,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 86,,"Retinitis pigmentosa-86 (RP86) is characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity, with typical findings of RP on fundus examination, including attenuated retinal vessels, waxy pallor of the optic disc, and bone spicule-like pigmentation ({1:de Bruijn et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.",[618613],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16369,Active,Orphanet+OMIM,OMIM:618624,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 12,,"Noonan syndrome-12 (NS12) is characterized by macrocephaly and a recognizable facies, including hypertelorism, downslanting palpebral fissures, and low-set ears, as well as other features consistent with a Noonan syndrome diagnosis. Inter- and intrafamilial variability has been observed ({1:Capri et al., 2019}; {2:Niihori et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[618624],[648],[Noonan syndrome],[10955],,,,, +GARD:1637,Legacy,GARD,,,,,,,,,,,,Cutis laxa osteoporosis,TRUE,FALSE,Active +GARD:16370,Active,Orphanet+OMIM,OMIM:618632,Subtype of disorder,[Clinical subtype],"Usher syndrome, type 1m",,"Usher syndrome type 1M (USH1M) is characterized by prelingual sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa ({1:Ahmed et al., 2018}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Usher syndrome, see USH1 ({276900}).",[618632],[231169],[Usher syndrome type 1],[5435],,,,, +GARD:16371,Active,Orphanet+OMIM,OMIM:618658,Subtype of disorder,[Malformation syndrome subtype],Zimmermann-laband syndrome 3,,"Zimmermann-Laband syndrome-3 (ZLS3) is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia ({1:Bauer et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 ({135500}).",[618658],[3473],[Zimmermann-Laband syndrome],[385],,,,, +GARD:16372,Active,Orphanet+OMIM,OMIM:618666,Subtype of disorder,[Disease subtype],Sitosterolemia 2,,"Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease (summary by {1:Berge et al., 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of sitosterolemia, see {210250}.",[618666],[2882],[Sitosterolemia],[7653],,,,, +GARD:16373,Active,Orphanet+OMIM,OMIM:618695,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 42","[Ciliary dyskinesia, primary, 42, without situs inversus]","Primary ciliary dyskinesia-42 (CILD42) is an autosomal recessive disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by {1:Boon et al., 2014}).\n\nFor a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 ({244400}).",[618695],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16374,Active,Orphanet+OMIM,OMIM:618697,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 87 with choroidal involvement,,"Retinitis pigmentosa-87 with choroidal involvement (RP87) is characterized by a slowly progressive visual disturbance, including night blindness and reduced central and peripheral vision, accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected ({2:Hull et al., 2016}; {4:Li et al., 2019}).\n\nFor a discussion of genetic heterogeneity of RP, see {268000}.",[618697],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16375,Active,Orphanet+OMIM,OMIM:618752,Subtype of disorder,[Disease subtype],"Neutropenia, severe congenital, 8, autosomal dominant","[Neutropenia, severe congenital, 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities, shwachman-diamond syndrome-like]","Autosomal dominant severe congenital neutropenia-8 (SCN8) is a pleiotropic disorder with the consistent feature of decreased neutrophils associated with recurrent bacterial infections apparent from early infancy. Other hematologic parameters are usually normal, although some patients may have mild anemia. Bone marrow examination shows hypocellularity with arrested maturation of the granulocyte lineage at the level of promyelocytes or myeloblasts. Treatment with granulocyte colony-stimulating factor (GCSF; {138970}) is usually ineffective or only partially effective, whereas hematopoietic bone marrow transplantation is effective. A subset of patients have additional features, including exocrine pancreatic insufficiency, which resembles Shwachman-Diamond syndrome (see SDS1, {260400}), and/or neurologic deficits, including developmental delay, impaired intellectual development, speech delay, and/or autistic features (summary by {2:Carapito et al., 2017} and {1:Bellanne-Chantelot et al., 2018}).\n\nFor discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 ({202700}).",[618752],[486],[Autosomal dominant severe congenital neutropenia],[9558],,,,, +GARD:16376,Active,Orphanet+OMIM,OMIM:618763,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 36,,"Joubert syndrome-36 (JBTS36) is an autosomal recessive ciliopathy characterized by global developmental delay, ocular movement abnormalities, and mesoaxial polydactyly. Brain imaging may be normal or show the classic 'molar tooth sign.' There is some phenotypic similarity to and overlap with orofaciodigital syndrome VI (OFD6; {277170}) (summary by {1:Shaheen et al., 2019}).\n\nFor a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300}).",[618763],[2754],[Orofaciodigital syndrome type 6],[4412],,,,, +GARD:16377,Active,Orphanet+OMIM,OMIM:618775,Subtype of disorder,[Disease subtype],"Mitochondrial complex iii deficiency, nuclear type 10",,,[618775],[1460],[Isolated complex III deficiency],[8295],,,,, +GARD:16378,Active,Orphanet+OMIM,OMIM:618776,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 34",,,[618776],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16379,Active,Orphanet+OMIM,OMIM:618779,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 11,,"Coffin-Siris syndrome-11 (CSS11) is a syndromic neurodevelopmental disorder characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features. Most patients have distal anomalies, such as small hands and feet and hypoplastic fifth toenails (summary by {1:Nixon et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[618779],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:1638,Active,Orphanet,ORPHA:357058,Disorder,[Disease],Autosomal recessive cutis laxa type 2A,[ARCL2A],"A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.","[219200, 278250]",,,,,"Cutis laxa, autosomal recessive type 2A",TRUE,FALSE,Active +GARD:16380,Active,Orphanet+OMIM,OMIM:618781,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 44","[Ciliary dyskinesia, primary, 44, without situs inversus]","Primary ciliary dyskinesia-44 (CILD44) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder results in bronchiectasis. Although respiratory epithelial cell motile cilia are shorter than normal and overall ciliary motion is decreased, nasal nitric oxide, radial ciliary structure, and ciliary beat frequency are normal. In addition, patients do not have situs inversus (summary by {1:Chivukula et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[618781],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16381,Active,Orphanet+OMIM,OMIM:618786,Subtype of disorder,[Malformation syndrome subtype],Imagawa-matsumoto syndrome,,"Imagawa-Matsumoto syndrome (IMMAS) is characterized by variable pre- and postnatal overgrowth; dysmorphic features including postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge; and variable musculoskeletal abnormalities. Developmental delay and impaired intellectual development are common, whereas abnormalities of cerebral imaging are uncommon but may be significant. Some patients exhibit genitourinary abnormalities, and respiratory issues have been reported ({1:Cyrus et al., 2019}).",[618786],[3447],[Weaver syndrome],[7878],,,,, +GARD:16382,Active,Orphanet+OMIM,OMIM:618795,Subtype of disorder,[Disease subtype],Juvenile arthritis,,"Juvenile arthritis (JUVAR) is characterized by onset in early childhood of symmetric arthritis in multiple joints, associated with a marked increase in inflammatory markers. Some patients exhibit systemic symptoms, including quotidian fever, erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or splenomegaly. There is high clinical variability, even within the same family ({2:Karacan et al., 2018}).",[618795],[85414],[Systemic-onset juvenile idiopathic arthritis],[10966],,,,, +GARD:16383,Active,Orphanet+OMIM,OMIM:618801,Subtype of disorder,[Disease subtype],"Ciliary dyskinesia, primary, 45","[Ciliary dyskinesia, primary, 45, without situs inversus]","Primary ciliary dyskinesia-45 (CILD45) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder may result in bronchiectasis. Nasal nitric oxide may be decreased, but patients do not have situs abnormalities. Male patients have infertility due to immotile sperm (summary by {1:Thomas et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400}).",[618801],[244],[Primary ciliary dyskinesia],[4484],,,,, +GARD:16384,Active,Orphanet+OMIM,OMIM:618824,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, 8, autosomal recessive",,"Autosomal recessive idiopathic basal ganglia calcification-8 (IBGC8) is a progressive neurologic disorder with insidious onset of motor symptoms in adulthood. Affected individuals develop gait difficulties, parkinsonism, pyramidal signs, and dysarthria. Some may demonstrate cognitive decline or memory impairment. Brain imaging shows extensive calcifications in various brain regions including the basal ganglia, thalamus, and cerebellum. Because serum calcium and phosphate are normal, the disorder is thought to result from defects in the integrity of the neurovascular unit in the brain (summary by {2:Schottlaender et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600}).",[618824],[1980],[Bilateral striopallidodentate calcinosis],[6406],,,,, +GARD:16385,Active,Orphanet+OMIM,OMIM:618826,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 88,,"Retinitis pigmentosa-88 (RP88) is characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity. Examination shows typical findings of RP, including attenuated retinal vessels, pale optic discs, and pigment deposits in the peripheral retinal pigment epithelium ({4:Zobor et al., 2018}; {3:Hu et al., 2019}; {1:Albarry et al., 2019}).\n\nFor a discussion of genetic heterogeneity of RP, see {268000}.",[618826],[791],[Retinitis pigmentosa],[5694],,,,, +GARD:16386,Active,Orphanet+OMIM,OMIM:618840,Subtype of disorder,[Disease subtype],Alopecia-intellectual disability syndrome 4,[Alopecia-mental retardation syndrome 4],"Alopecia-intellectual disability syndrome-4 (APMR4) is characterized by alopecia universalis, scaly skin, and psychomotor retardation of varying degrees ({1:Besnard et al., 2019}).\n\nFor a discussion of genetic heterogeneity of alopecia-mental retardation syndrome, see APMR1 ({203650}).",[618840],[2850],[Alopecia-intellectual disability syndrome],[612],,,,, +GARD:16387,Active,Orphanet+OMIM,OMIM:618841,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 25 with anosmia,,"Hypogonadotropic hypogonadism-25 with anosmia (HH25) is characterized by delayed or absent puberty with low gonadotropic hormones in the setting of low testosterone or estradiol. Affected individuals also exhibit hyposmia or anosmia, with hypoplastic olfactory bulbs on MRI. Intrafamilial variable expressivity and incomplete penetrance has been observed ({1:Messina et al., 2020}).\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[618841],[478],[Kallmann syndrome],[10771],,,,, +GARD:16388,Active,Orphanet+OMIM,OMIM:618856,Subtype of disorder,[Disease subtype],"Diabetes mellitus, permanent neonatal, 2",,"Permanent neonatal diabetes mellitus-2 (PNDM2) is characterized by onset of insulin-requiring hyperglycemia within the first months of life that requires insulin therapy throughout life. Some patients additionally have marked developmental delay, muscle weakness, and epilepsy ({4:Gloyn et al., 2004}). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND ({10:Shimomura et al., 2007}).\n\n{9:Proks et al. (2006)} stated that heterozygous activating mutations in KCNJ11 are the most common cause of PNDM and account for 26 to 64% of cases, and that neurologic features are found in 20% of patients with KCNJ11 mutations.\n\nFor a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 ({606176}).",[618856],[99885],[Isolated permanent neonatal diabetes mellitus],[10457],,,,, +GARD:16389,Active,Orphanet+OMIM,OMIM:618857,Subtype of disorder,[Disease subtype],"Diabetes mellitus, permanent neonatal, 3",,"Permanent neonatal diabetes mellitus-3 (PNDM3) is characterized by the onset of mild to severe hyperglycemia within the first months of life, and requires lifelong therapy (summary by {1:Babenko et al., 2006}). Some patients also have neurologic features, including developmental delay and epilepsy ({3:Proks et al., 2006}; {1:Babenko et al., 2006}). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND.\n\nFor a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 ({606176}).",[618857],[99885],[Isolated permanent neonatal diabetes mellitus],[10457],,,,, +GARD:1639,Active,Orphanet,ORPHA:90348,Disorder,[Disease],Autosomal dominant cutis laxa,[ADCL],"A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.","[616603, 123700, 614434]",,,,,"Cutis laxa, autosomal dominant",TRUE,FALSE,Active +GARD:16390,Active,Orphanet+OMIM,OMIM:618858,Subtype of disorder,[Disease subtype],"Diabetes mellitus, permanent neonatal, 4",,"Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life (summary by {4:Polak et al., 2008}).\n\nFor a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 ({606176}).",[618858],[99885],[Isolated permanent neonatal diabetes mellitus],[10457],,,,, +GARD:16391,Active,Orphanet+OMIM,OMIM:618910,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 86,"[Epileptic encephalopathy, early infantile, 86]",,[618910],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16392,Active,Orphanet+OMIM,OMIM:618913,Subtype of disorder,[Disease subtype],Fanconi renotubular syndrome 5,"[Fanconi renotubular syndrome, acadian variant]","Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent ({1:Crocker et al., 1997} and {2:Hartmannova et al., 2016}).\n\nFor a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 ({134600}).",[618913],[3337],[Primary Fanconi renotubular syndrome],[9118],,,,, +GARD:16393,Active,Orphanet+OMIM,OMIM:618916,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 87,"[Epileptic encephalopathy, early infantile, 87]","Developmental and epileptic encephalopathy-87 (DEE87) is a neurologic disorder characterized by global developmental delay, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age. Affected individuals have severely impaired motor and cognitive development with little or absent speech and poor visual tracking. More variable features include facial dysmorphisms, joint laxity, and nonspecific brain imaging findings (summary by {1:Chung et al., 2020}).",[618916],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16394,Active,Orphanet+OMIM,OMIM:618918,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 9,,"Periventricular nodular heterotopia-9 (PVNH9) is an autosomal dominant neurologic disorder characterized as a malformation of cortical development. Anterior predominant PVNH, thin corpus callosum, and decreased white matter volume are found on brain imaging, but the clinical effects are variable. Most patients have impaired intellectual development and cognitive defects associated with low IQ (range 50 to 80), learning disabilities, and behavior abnormalities. Some patients develop seizures that tend to have a focal origin. However, some mutation carriers may be less severely affected with borderline or even normal IQ, suggesting incomplete penetrance of the phenotype (summary by {1:Heinzen et al., 2018}, {3:Walters et al., 2018}).\n\nFor a discussion of genetic heterogeneity of periventricular nodular heterotopia, see {300049}.",[618918],[98892],[Periventricular nodular heterotopia],[12724],,,,, +GARD:16395,Active,Orphanet+OMIM,OMIM:618935,Subtype of disorder,[Disease subtype],"Granulomatous disease, chronic, autosomal recessive, 5","[Granulomatous disease, chronic, due to cybc1 deficiency]","Autosomal recessive chronic granulomatous disease-5 (CGD5) is a primary immunodeficiency characterized by onset of recurrent infections and severe colitis in the first decade of life. Patients often present with features of inflammatory bowel disease and may show granulomata on biopsy. Patients are particularly susceptible to catalase-positive organisms, including Burkholderia cepacia, Legionella, and Candida albicans. Some patients may develop autoinflammatory symptoms, including recurrent fever in the absence of infection, hemolytic anemia, and lymphopenia. Additional features may include short stature, viral infections, cutaneous abscesses, pulmonary infections, and lymphadenitis. Hematopoietic bone marrow transplant is curative. The disorder results from impaired oxidative burst via the NAPDH oxidative complex in macrophages and neutrophils (summary by {1:Arnadottir et al., 2018} and {3:Thomas et al., 2019}).\n\nFor a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; {306400}).",[618935],[379],[Chronic granulomatous disease],[6100],,,,, +GARD:16396,Active,Orphanet+OMIM,OMIM:618939,Subtype of disorder,[Malformation syndrome subtype],Treacher collins syndrome 4,,"Treacher Collins syndrome-4 (TCS4) is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia. Most patients have conductive deafness with atretic external ear canals. Choanal atresia and cleft palate have also been observed ({1:Sanchez et al., 2020}).",[618939],[861],[Treacher-Collins syndrome],[9124],,,,, +GARD:16397,Active,Orphanet+OMIM,OMIM:618940,Subtype of disorder,[Disease subtype],Oculopharyngodistal myopathy 2,,"Oculopharyngodistal myopathy-2 (OPDM2) is an autosomal dominant muscle disorder characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. The disorder is slowly progressive, and patients develop facial weakness, bulbar weakness, and difficulty walking or climbing stairs. Some patients may have upper limb involvement and subclinical respiratory insufficiency. Laboratory studies show increased serum creatine kinase; skeletal muscle biopsy shows myopathic changes with abnormal cytoplasmic and intranuclear inclusions (summary by {1:Deng et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OPDM, see OPDM1 ({164310}).",[618940],[98897],[Oculopharyngodistal myopathy],[12592],,,,, +GARD:16398,Active,Orphanet+OMIM,OMIM:618959,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 88,"[Epileptic encephalopathy, early infantile, 88]","Developmental and epileptic encephalopathy-88 (DEE88) is an autosomal recessive severe neurologic disorder characterized by global developmental delay, early-onset epilepsy, and progressive microcephaly. Brain MRI findings may include corpus callosum abnormalities, prominent ventricles, and mild hypoplasia of the inferior vermis and pons ({1:Broeks et al., 2019}).\n\nFor a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}.",[618959],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16399,Active,Orphanet+OMIM,OMIM:618977,Subtype of disorder,[Disease subtype],Optic atrophy 12,,"Optic atrophy-12 (OPA12) is an autosomal dominant neurologic disorder characterized by slowly progressive visual impairment with onset usually in the first decade, although later onset has been reported. Affected individuals have impaired color vision, photophobia, pale optic discs, optic nerve atrophy, and decreased thickness of the retinal nerve fiber layer. Some patients may exhibit additional neurologic features, including impaired intellectual development, dystonia, movement disorders, or ataxia (summary by {2:Caporali et al., 2020}).\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[618977],[98673],"[Autosomal dominant optic atrophy, classic form]",[9890],,,,, +GARD:164,Legacy,GARD,,,,,,,,,,,,"Sclerocornea, Syndactyly, ambiguous genitalia",TRUE,FALSE,Retired +GARD:16400,Active,Orphanet+OMIM,OMIM:618998,Subtype of disorder,[Disease subtype],Immune dysregulation and systemic hyperinflammation syndrome,"[Hemophagocytic lymphohistiocytosis, familial, 6, formerly]","Immune dysregulation and systemic hyperinflammation syndrome (IMDYSHI) is an autosomal recessive immunologic disorder characterized by systemic hyperinflammation in the absence of an infectious agent or autoimmune trigger. Features include lymphadenopathy, hepatosplenomegaly, recurrent fever, and laboratory evidence of immune dysregulation with abnormal immune cell populations and increased serum levels of inflammatory cytokines. The phenotype is reminiscent of relapsing hemophagocytic lymphohistiocytosis (HLH; see FHL1, {267700}) (summary by {1:Tavernier et al., 2019}).",[618998],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,,,, +GARD:16401,Active,Orphanet+OMIM,OMIM:619003,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 35",,,[619003],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16402,Active,Orphanet+OMIM,OMIM:619016,Subtype of disorder,[Disease subtype],Ifap syndrome 2,"[Ichthyosis follicularis, atrichia, and photophobia syndrome 2]","Follicular ichthyosis, atrichia, and photophobia syndrome-2 (IFAP2) is characterized by ichthyosis follicularis or follicular hyperkeratosis, sparse to no body hair, and photophobia with corneal lesions. Ultrastructural hair analysis shows trichorrhexis nodosa ({1:Wang et al., 2020}).\n\nFor a discussion of genetic heterogeneity of IFAP syndrome, see IFAP1 ({308205}).",[619016],[2273],[Ichthyosis follicularis-alopecia-photophobia syndrome],[2952],,,,, +GARD:16403,Active,Orphanet+OMIM,OMIM:619028,Subtype of disorder,[Disease subtype],"Coenzyme q10 deficiency, primary, 9",,"Coenzyme Q10 deficiency-9 (COQ10D9) is an autosomal recessive disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in the first decade of life. Some patients may have additional neurologic signs and symptoms, including intellectual disability and seizures. Treatment with CoQ10 may offer clinical benefit (summary by {1:Malicdan et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 ({607426}).",[619028],[139485],[Autosomal recessive ataxia due to ubiquinone deficiency],[10294],,,,, +GARD:16404,Active,Orphanet+OMIM,OMIM:619046,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 3",,"Mitochondrial complex IV deficiency nuclear type 3 (MC4DN3) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present with encephalomyopathic features in early infancy, whereas others may present later in infancy or the first years of life after normal early development. Affected individuals show hypotonia, failure to thrive, and developmental delay or regression with poor eye contact and loss of motor skills with ataxia. Additional features observed in some patients include proximal renal tubulopathy, macrocytic anemia, sensorineural hearing loss, nystagmus, and hypertrophic cardiomyopathy, consistent with systemic involvement. Brain imaging in most patients shows lesions consistent with Leigh syndrome (see {256000}). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV. Most patients die in infancy (summary by {3:Valnot et al., 2000} and {1:Antonicka et al., 2003}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619046],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16405,Active,Orphanet+OMIM,OMIM:619048,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 4",,"Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and neurologic distress. Additional features include hepatomegaly, hepatic steatosis, increased serum lactate, and metabolic acidosis. Some patients may develop hypertrophic cardiomyopathy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death usually occurs in infancy (summary by {2:Valnot et al., 2000} and {1:Stiburek et al., 2009}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619048],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16406,Active,Orphanet+OMIM,OMIM:619051,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 7",,"Mitochondrial complex IV deficiency nuclear type 7 (MC4DN7) is an autosomal recessive metabolic encephalomyopathic disorder with highly variable manifestations. Only a few patients have been reported. Some patients have normal early development then show rapid neurodegeneration with progressive muscle weakness, gait disturbances, and cognitive decline in mid to late childhood. Other features may include seizures and visual impairment. Brain imaging shows progressive leukodystrophy with cystic lesions. In contrast, at least 1 patient has been reported who presented in the neonatal period with metabolic acidosis, hydrocephalus, hypotonia, and cortical blindness. This patient developed hypertrophic cardiomyopathy resulting in early death. All patients had increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by {2:Massa et al., 2008} and {1:Abdulhag et al., 2015}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619051],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16407,Active,Orphanet+OMIM,OMIM:619052,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 8",,"Mitochondrial complex IV deficiency nuclear type 8 (MC4DN8) is an autosomal recessive metabolic disorder characterized by the onset of neuromuscular symptoms in the first decade of life after normal early development. Affected individuals develop a slowly progressive decline in neurologic function with gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability. Other features may include facial hypotonia, optic atrophy with visual impairment, nystagmus, muscle rigidity, and loss of ambulation. Rare patients may have renal tubulopathy. Brain imaging shows T2-weighted hyperintensities in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Serum lactate is often increased, and patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by {2:Seeger et al., 2010}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619052],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16408,Active,Orphanet+OMIM,OMIM:619053,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 10",,"Mitochondrial complex IV deficiency nuclear type 10 (MC4DN10) is an autosomal recessive multisystem metabolic disorder characterized by the onset of severe symptoms soon after birth. Affected infants have respiratory and neurologic distress, metabolic lactic acidosis, and dysmorphic features, including microphthalmia. Death occurs in early infancy. Postmortem examination has demonstrated systemic involvement with hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. There is also abnormal brain myelination and cavitating brain lesions. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Weraarpachai et al., 2012}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619053],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16409,Active,Orphanet+OMIM,OMIM:619054,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 11",,"Mitochondrial complex IV deficiency nuclear type 11 (MC4DN11) is an autosomal recessive metabolic disorder characterized by a childhood-onset sensory neuronopathy and additional features which may include hypotonia, cerebellar ataxia, tremor, dystonia, choreoathetosis, and/or dysarthria. Patients may have variable motor delay, speech delay, or impaired intellectual development (summary by {2:Doss et al., 2014}; {3:Otero et al., 2019}; {5:Xu et al., 2019}; {1:Dong et al., 2021}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619054],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:1641,Active,Orphanet,ORPHA:357064,Disorder,[Disease],Autosomal recessive cutis laxa type 2B,"[ARCL2, progeroid type, ARCL2B, Autosomal recessive cutis laxa type 2, progeroid type]","A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.",[612940],,,,,"Cutis laxa, autosomal recessive type 2B",TRUE,FALSE,Active +GARD:16410,Active,Orphanet+OMIM,OMIM:619055,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 12",,"Mitochondrial complex IV deficiency nuclear type 12 (MC4DN12) is an autosomal recessive metabolic disorder characterized by the onset of neurologic dysfunction in early infancy. Affected individuals demonstrate hypotonia with poor head control, profoundly delayed global development with inability to fix and follow, poor overall growth, abnormal spasms or myoclonus, and seizures. Most patients die in the first years of life; those that survive have spastic quadriplegia, feeding difficulties necessitating tube feeding, and profoundly impaired intellectual development with poor or absent communication. More variable features include cortical blindness, nystagmus, scoliosis, and hearing impairment. Brain imaging shows abnormalities consistent with Leigh syndrome (see {256000}), as well as cystic cavitation. Laboratory studies show lactic acidosis, increased serum creatine kinase, and decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Lim et al., 2014}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619055],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16411,Active,Orphanet+OMIM,OMIM:619058,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 14",,"Mitochondrial complex IV deficiency nuclear type 14 (MC4DN14) is an autosomal recessive metabolic disorder characterized by global developmental delay, exercise intolerance, walking difficulties, impaired intellectual development, short stature, mild dysmorphic features, and sensorimotor peripheral neuropathy. Patient skeletal muscle tissue shows decreased levels and activity of mitochondrial respiratory complex IV ({1:Ostergaard et al., 2015}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619058],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16412,Active,Orphanet+OMIM,OMIM:619059,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 15",,"Mitochondrial complex IV deficiency nuclear type 15 (MC4DN15) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show global developmental delay, poor feeding, short stature with microcephaly, proximal muscle weakness, and distal spasticity. Other manifestations include scoliosis, primary pulmonary hypertension, childhood-onset refractory seizures, and inability to walk. Brain imaging shows features consistent with Leigh syndrome (see {256000}) and enlarged ventricles. Laboratory studies show increased serum and CSF lactate, as well as decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Hallmann et al., 2016}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619059],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16413,Active,Orphanet+OMIM,OMIM:619060,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 16",,"Mitochondrial complex IV deficiency nuclear type 16 (MC4DN16) is an autosomal recessive metabolic disorder with highly variable manifestations. Common features include failure to thrive with poor overall growth, short stature, and microcephaly. Some patients additionally have neurologic involvement, including developmental regression with severe hypotonia, feeding difficulties, and seizures. Brain imaging in the more severely affected patients shows cerebral and cerebellar atrophy and abnormal lesions in the basal ganglia. In all cases, patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (summary by {2:Pillai et al., 2019}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619060],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16414,Active,Orphanet+OMIM,OMIM:619061,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 17",,"Mitochondrial complex IV deficiency nuclear type 17 (MC4DN17) is an autosomal recessive neurometabolic disorder with somewhat variable clinical manifestations and severity. Most affected individuals present in early childhood with motor and gait difficulties after normal early development. These motor abnormalities progress to spastic tetraparesis, sometimes resulting in loss of ambulation. Many patients also show episodic developmental regression: some have impaired cognition and dysarthria, although others have normal speech and cognition. More variable features include seizures and sensorimotor polyneuropathy. The clinical features tend to stabilize over time. Brain imaging shows a cavitating leukodystrophy, and laboratory studies show variably decreased levels and activity of mitochondrial respiratory complex IV in patient tissues ({1:Melchionda et al., 2014}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619061],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16415,Active,Orphanet+OMIM,OMIM:619062,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 18",,"Mitochondrial complex IV deficiency nuclear type 18 (MC4DN18) is an autosomal recessive metabolic disorder that primarily affects skeletal muscle tissue. Affected individuals present in infancy with hypotonia, limb muscle weakness, and high-arched palate. The severity of the disorder is variable: some patients may only have gait difficulties, whereas others may also have significant respiratory insufficiency and cardiomyopathy. Death in infancy has been reported. Patient skeletal muscle shows decreased levels and activity of mitochondrial respiratory complex IV ({1:Inoue et al., 2019}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619062],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16416,Active,Orphanet+OMIM,OMIM:619063,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 19",,"Mitochondrial complex IV deficiency nuclear type 19 (MC4DN19) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy. Serum lactate is increased; T2-weighted lesions in the medulla oblongata have also been reported. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV ({1:Renkema et al., 2017}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619063],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16417,Active,Orphanet+OMIM,OMIM:619064,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 20",,"Mitochondrial complex IV deficiency nuclear type 20 (MC4DN20) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and global developmental delay. Additional features include elevated liver enzymes, increased serum lactate, metabolic acidosis, and pulmonary arterial hypertension (PAH), which may result in cardiorespiratory failure and early death. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV ({1:Baertling et al., 2017}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619064],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16418,Active,Orphanet+OMIM,OMIM:619065,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 21",,"Mitochondrial complex IV deficiency nuclear type 21 (MC4DN21) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals present with congenital lactic acidosis and later show global developmental delay with delayed speech and learning disabilities. Additional features include motor dysfunction manifest as spasticity, dystonia, and pyramidal tract signs. Ataxia, peripheral neuropathy, and seizures may also occur. Brain imaging shows T2-weighted hyperintensities in subcortical regions, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV ({1:Pitceathly et al., 2013}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[619065],[70472],"[Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type]",[8370],,,,, +GARD:16419,Active,Orphanet+OMIM,OMIM:619087,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 13,,"Noonan syndrome-13 (NS13) is a neurodevelopmental disorder characterized by developmental delay and impaired intellectual development of variable severity, associated with behavioral problems. Affected individuals also exhibit reduced postnatal growth and craniofacial anomalies, including ptosis, hypertelorism, low-set posteriorly rotated ears, and short webbed neck. Other features include congenital heart defects and mild skeletal defects ({1:Motta et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[619087],[648],[Noonan syndrome],[10955],,,,, +GARD:16420,Active,Orphanet+OMIM,OMIM:619108,Subtype of disorder,[Disease subtype],Spermatogenic failure 48,,"Spermatogenic failure-48 (SPGF48) is characterized by male infertility due to a variable spectrum of severely impaired spermatogenesis, primarily at meiosis and resulting in azoospermia. However, sparse postmeiotic germ cell development and retrieval of sperm in some cases has been reported ({2:Wyrwoll et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see {258150}.",[619108],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16421,Active,Orphanet+OMIM,OMIM:619110,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, distal, type 1c",,"Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. Contractures involving the proximal joints appear to be more common in MYLPF-associated DA than in other forms of DA, and segmental amyoplasia has been observed ({1:Chong et al., 2020}).",[619110],[1146],[Distal arthrogryposis type 1],[787],,,,, +GARD:16422,Active,Orphanet+OMIM,OMIM:619111,Subtype of disorder,[Disease subtype],Coach syndrome 2,,"COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis ({3:Verloes and Lambotte, 1989}). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by {1:Doherty et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see {216360}.",[619111],[1454],[Joubert syndrome with hepatic defect],[1410],,,,, +GARD:16423,Active,Orphanet+OMIM,OMIM:619113,Subtype of disorder,[Disease subtype],Coach syndrome 3,,"COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis ({2:Verloes and Lambotte, 1989}). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by {1:Doherty et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see {216360}.",[619113],[1454],[Joubert syndrome with hepatic defect],[1410],,,,, +GARD:16424,Active,Orphanet+OMIM,OMIM:619124,Subtype of disorder,[Disease subtype],Developmental and epileptic encephalopathy 89,,"Developmental and epileptic encephalopathy-89 (DEE89) is a severe autosomal recessive disorder characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. EEG shows suppression-burst pattern or hypsarrhythmia, consistent with DEE or a clinical diagnosis of West syndrome. More variable features include joint contractures with foot deformities, dysmorphic facial features with cleft palate, and omphalocele. Affected individuals have poor motor skills, poor eye contact, and lack of language development; some die in infancy or early childhood. Brain imaging may be normal or show nonspecific abnormalities (summary by {2:Chatron et al., 2020}).",[619124],[442835],[Non-specific early-onset epileptic encephalopathy],[15028],,,,, +GARD:16425,Active,Orphanet+OMIM,OMIM:619133,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia,,"Amyotrophic lateral sclerosis-26 with or without frontotemporal dementia (ALS26) is an autosomal dominant neurodegenerative disorder characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness (ALS). Patients may also develop frontotemporal dementia (FTD) manifest as primary progressive aphasia, memory impairment, executive dysfunction, and behavioral or personality changes. Although patients may present with 1 or the other diseases, all eventually develop ALS. Neuropathologic studies of the brain and spinal cord show TDP43 ({605078})-immunoreactive cytoplasmic inclusions that correlate with clinical features and Lewy body-like cytoplasmic inclusions in lower motor neurons (summary by {2:Mackenzie et al., 2017}).\n\nFor a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400}).",[619133],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,,,, +GARD:16426,Active,Orphanet+OMIM,OMIM:619135,Subtype of disorder,[Malformation syndrome subtype],Ritscher-schinzel syndrome 3,,"Ritscher-Schinzel syndrome-3 (RTSC3) is characterized by craniocerebellocardiac anomalies and severe postnatal growth restriction, as well as complicated skeletal malformations, including vertebral body hypoossification, sternal aplasia, and chondrodysplasia punctata. Other features include developmental delay, ocular anomalies, periventricular nodular heterotopia, and proteinuria ({1:Kato et al., 2020}).\n\nFor a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 ({220210}).",[619135],[7],[3C syndrome],[5666],,,,, +GARD:16427,Active,Orphanet+OMIM,OMIM:619141,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 5,,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-5 (FTDALS5) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD symptoms in adulthood. The disease is progressive, and some patients may develop both diseases, although ALS seems to be more prevalent than FTD. The disorder usually results in premature death (summary by {1:Williams et al., 2016}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[619141],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,,,, +GARD:16428,Active,Orphanet+OMIM,OMIM:619155,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 22",,"Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant ({1:Majmundar et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).",[619155],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16429,Active,Orphanet+OMIM,OMIM:619166,Subtype of disorder,[Disease subtype],"Mitochondrial complex ii deficiency, nuclear type 2",,"Mitochondrial complex II deficiency nuclear type 2 (MC2DN2) is an autosomal recessive multisystemic metabolic disorder with variable severity and features. Most patients present with neurologic deterioration in infancy or early childhood after normal early development. Features include loss of motor skills, spastic paresis, dystonia, and loss of speech associated with increased serum and CSF lactate. Some patients may have mental decline or visual loss. Skeletal muscle samples show isolated complex II deficiency, and proton MRS shows increased succinate levels in the CSF and brain white matter. Brain imaging usually shows progressive leukoencephalopathy. Although the pattern of brain involvement may not be characteristic of Leigh syndrome (see {256000}), postmortem examination in 1 patient showed multifocal spongiform encephalomyelopathy consistent with a diagnosis of Leigh syndrome. The most severely affected patients die of multiorgan failure and lactic acidosis, whereas others who survive may stabilize and regain some skills. Treatment with riboflavin may offer clinical improvement (summary by {1:Brockmann et al., 2002} and {2:Bugiani et al., 2006}).\n\nFor a discussion of genetic heterogeneity of MC2DN, see MC2DN1 ({252011}).",[619166],[3208],[Isolated succinate-CoQ reductase deficiency],[5053],,,,, +GARD:1643,Active,Orphanet,ORPHA:671,Group of disorders,[Clinical group],Primary cutis verticis gyrata,,"A progressive cutaneous disorder predominantly affecting males, characterized by hypertrophy and thickening of the skin of the scalp, forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. It can be isolated or associated with other abnormalities, such as intellectual deficit, epilepsy, cataract, blindness, and deafness.",,,,,,Cutis verticis gyrata,TRUE,FALSE,Active +GARD:16430,Active,Orphanet+OMIM,OMIM:619167,Subtype of disorder,[Disease subtype],"Mitochondrial complex ii deficiency, nuclear type 3",,"Mitochondrial complex II deficiency nuclear type 3 (MC2DN3) is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients may have an encephalomyopathic picture with episodic developmental regression, loss of motor skills, hypotonia, ataxia, dystonia, and seizures or myoclonus. Other patients present in infancy with hypertrophic cardiomyopathy, which may be fatal. Laboratory studies show increased serum lactate and mitochondrial complex II deficiency in muscle and fibroblasts (summary by {2:Jackson et al., 2014} and {1:Alston et al., 2015}).\n\nFor a discussion of genetic heterogeneity of MC2DN, see MC2DN1 ({252011}).",[619167],[3208],[Isolated succinate-CoQ reductase deficiency],[5053],,,,, +GARD:16431,Active,Orphanet+OMIM,OMIM:619170,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 36",,"Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Patient tissue showed isolated mitochondrial complex I deficiency. Death may occur in childhood ({1:Alahmad et al., 2020}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see {252010}.",[619170],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16432,Active,Orphanet+OMIM,OMIM:619179,Subtype of disorder,[Etiological subtype],"Microcephaly 26, primary, autosomal dominant",,"Autosomal dominant primary microcephaly-26 (MCPH26) is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development. Some patients may have only mild learning difficulties or speech delay, whereas other are more severely affected with the inability to walk or speak. Additional features may include short stature, spasticity, feeding difficulties requiring tube feeding, and nonspecific dysmorphic facial features. Brain imaging in some patients shows a simplified gyral pattern or dysgenesis of the corpus callosum, suggesting abnormal neuronal migration (summary by {1:Cristofoli et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[619179],[2514],[Autosomal dominant primary microcephaly],[3605],,,,, +GARD:16433,Active,Orphanet+OMIM,OMIM:619180,Subtype of disorder,[Etiological subtype],"Microcephaly 27, primary, autosomal dominant",,"Autosomal dominant primary microcephaly-27 (MCPH27) is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Most patients have variable and nonspecific additional features, including facial dysmorphism, hypotonia, limb hypertonia, poor feeding, and distal skeletal anomalies. Brain imaging may show enlarged ventricles or gyral abnormalities, but most have normal imaging ({1:Parry et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}).",[619180],[2514],[Autosomal dominant primary microcephaly],[3605],,,,, +GARD:16434,Active,Orphanet+OMIM,OMIM:619185,Subtype of disorder,[Malformation syndrome subtype],Joubert syndrome 37,,"Joubert syndrome-37 (JBTS37) is an autosomal recessive neurodevelopmental ciliopathy characterized classically by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging. Affected individuals have hypotonia, ataxia, and variably impaired intellectual development. Additional variable features, such as postaxial polydactyly, liver or kidney anomalies, retinal dystrophy, and coloboma, may also occur. In severe cases, affected fetuses with these malformations may be terminated (summary by {2:Latour et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300}).",[619185],[475],[Joubert syndrome],[6802],,,,, +GARD:16435,Active,Orphanet+OMIM,OMIM:619201,Subtype of disorder,[Disease subtype],"Nephrotic syndrome, type 23",,"Nephrotic syndrome type 23 (NPHS23) is an autosomal recessive renal disorder characterized by the onset of proteinuria in the first or second decade of life. The outcome is variable: some patients have normal renal function after many years, whereas others may progress to chronic kidney disease. Renal biopsy shows mesangial hypercellularity, consistent with minimal change disease, focal segmental glomerulosclerosis, and effacement of podocyte foot processes (summary by {2:Solanki et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300}).",[619201],[656],[Genetic steroid-resistant nephrotic syndrome],[3946],,,,, +GARD:16436,Active,Orphanet+OMIM,OMIM:619202,Subtype of disorder,[Disease subtype],Spermatogenic failure 52,,"Spermatogenic failure-52 (SPGF52) is characterized by azoospermic infertility resulting from meiotic arrest at the spermatocyte stage ({1:Fan et al., 2021}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[619202],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,,,, +GARD:16437,Active,Orphanet+OMIM,OMIM:619208,Subtype of disorder,[Disease subtype],Olmsted syndrome 2,"[Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2]","Olmsted syndrome-2 (OLMS2) is characterized by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair ({2:Duchatelet et al., 2019}). Some patients may experience flexion contractures of the digits due to the severity of the keratoderma, and intractable pruritus as well as alopecia universalis have been observed ({1:Dai et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Olmsted disease, see OLMS1 ({614594}).",[619208],[659],[Mutilating palmoplantar keratoderma with periorificial keratotic plaques],[4075],,,,, +GARD:16438,Active,Orphanet+OMIM,OMIM:619224,Subtype of disorder,[Disease subtype],"Mitochondrial complex ii deficiency, nuclear type 4",,Mitochondrial complex II deficiency nuclear type 4 (MC2DN4) is a severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Acute episodes of neurodegeneration are often triggered by catabolic stress such as infection or fasting.,[619224],[3208],[Isolated succinate-CoQ reductase deficiency],[5053],,,,, +GARD:16439,Active,Orphanet+OMIM,OMIM:619267,Subtype of disorder,[Disease subtype],Glanzmann thrombasthenia 2,"[Bleeding disorder, platelet-type, 23]","Glanzmann thrombasthenia-2 (GT2) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb ({607759})/IIIa platelet surface fibrinogen receptor complex resulting from mutations in the GPIIIa gene ({7:Rosenberg et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Glanzmann thrombasthenia, see {273800}.",[619267],[849],[Glanzmann thrombasthenia],[2478],,,,, +GARD:1644,Legacy,GARD,,,,,,,,,,,,Cutis verticis gyrata mental deficiency,TRUE,FALSE,Active +GARD:16440,Active,Orphanet+OMIM,OMIM:619272,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 37",,,[619272],[2609],[Isolated complex I deficiency],[3908],,,,, +GARD:16441,Active,Orphanet+OMIM,OMIM:619303,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1e",,"Pontocerebellar hypoplasia type 1E (PCH1E) is an autosomal recessive neurologic disorder characterized by severe hypotonia and respiratory insufficiency apparent soon after birth. Virtually all patients die in the first days or weeks of life. Postmortem examination and brain imaging show pontocerebellar atrophy and loss of anterior motor neurons in the spinal cord. Additional more variable features may include optic atrophy, peripheral neuropathy, dysmorphic features, congenital contracture or foot deformities, and seizures (summary by {3:Braunisch et al., 2018}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[619303],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:16442,Active,Orphanet+OMIM,OMIM:619304,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 1f",,"Pontocerebellar hypoplasia type 1F (PCH1F) is an autosomal recessive neurologic disorder characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features. Brain imaging shows pontocerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and delayed myelination (summary by {1:Somashekar et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[619304],[2254],[Pontocerebellar hypoplasia type 1],[10704],,,,, +GARD:16443,Active,Orphanet+OMIM,OMIM:619325,Subtype of disorder,[Malformation syndrome subtype],Coffin-siris syndrome 12,,"Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS ({1:Barish et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).",[619325],[1465],[Coffin-Siris syndrome],[6124],,,,, +GARD:16444,Active,Orphanet+OMIM,OMIM:619339,Subtype of disorder,[Malformation syndrome subtype],Bartsocas-papas syndrome 2,"[Popliteal pterygium syndrome, bartsocas-papas type 2]","Bartsocas-Papas syndrome-2 (BPS2) is a severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations (summary by {1:Leslie et al., 2015}).",[619339],[1234],[Bartsocas-Papas syndrome],[4436],,,,, +GARD:16445,Active,Orphanet+OMIM,OMIM:619340,Subtype of disorder,[Clinical syndrome subtype],Developmental and epileptic encephalopathy 96,,"Developmental and epileptic encephalopathy-96 (DEE96) is characterized by onset of seizures in the first days or weeks of life. Affected infants have tonic or myoclonic seizures associated with burst-suppression pattern on EEG. They also have hypotonia with respiratory insufficiency that may result in premature death. Those that survive have profound developmental delay and persistent seizures (summary by {2:Suzuki et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.",[619340],[1934],[Early infantile epileptic encephalopathy],[9255],,,,, +GARD:16446,Active,Orphanet+OMIM,OMIM:619350,Subtype of disorder,[Disease subtype],Visceral myopathy 2,,"Visceral myopathy-2 (VSCM2) is characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Some patients exhibit predominantly esophageal symptoms, with hiatal hernia and severe reflux resulting in esophagitis and stricture, whereas others experience chronic intestinal pseudoobstruction. Bladder involvement resulting in megacystis and megaureter has also been observed and may be evident at birth ({1:Dong et al., 2019}; {2:Gilbert et al. (2020)}).",[619350],[2604],[Familial visceral myopathy],[3443],,,,, +GARD:16447,Active,Orphanet+OMIM,OMIM:619351,Subtype of disorder,[Malformation syndrome subtype],Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,,"Megacystis-microcolon-intestinal hypoperistalsis syndrome-2 (MMIHS2) is characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure (summary by {4:Wang et al., 2019}).\n\nFor a discussion of genetic heterogeneity of MMIHS, see {249210}.",[619351],[2241],[Megacystis-microcolon-intestinal hypoperistalsis syndrome],[3442],,,,, +GARD:16448,Active,Orphanet+OMIM,OMIM:619355,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 22",,"Mitochondrial complex IV deficiency nuclear type 22 (MC4DN22) is an autosomal recessive metabolic disorder characterized by neonatal hypertrophic cardiomyopathy, encephalopathy, and severe lactic acidosis with fatal outcome ({1:Wintjes et al., 2021}).",[619355],[254905],[Isolated cytochrome C oxidase deficiency],[48],,,,, +GARD:16449,Active,Orphanet+OMIM,OMIM:613093,Subtype of disorder,[Disease subtype],Cone dystrophy 4,,"Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (COD) and complete and incomplete achromatopsia (ACHM). Impairment or death of cone photoreceptor cells is the clinical hallmark of these disorders. COD is a progressive cone disorder in which patients may initially have normal cone function but develop progressive visual acuity loss, increasing photophobia, color vision disturbances, and diminished cone responses on ERG, usually in the first or second decade of life. The visual acuity of these patients generally worsens to legal blindness before the fourth decade of life. ACHM is a stationary congenital autosomal recessive cone disorder characterized by low visual acuity, photophobia, nystagmus, and severe color vision defects. Patients with the complete ACHM subtype have no cone function on electroretinography, whereas those with incomplete ACHM show residual cone function (summary by {2:Thiadens et al., 2009}).",[613093],[1871],[Progressive cone dystrophy],[11897],,,,, +GARD:16450,Active,Orphanet+OMIM,OMIM:158350,Subtype of disorder,[Disease subtype],Cowden syndrome 1,"[ruvalcaba-myhre-smith syndrome, macrocephaly, multiple lipomas, and hemangiomata, bannayan-riley-ruvalcaba syndrome, multiple hamartoma syndrome, riley-smith syndrome, pten hamartoma tumor syndrome with granular cell tumor, macrocephaly, pseudopapilledema, and multiple hemangiomata, Cs, bannayan-zonana syndrome, pten hamartoma tumor syndrome]","Cowden syndrome-1 is a hamartomatous disorder characterized by macrocephaly, facial trichilemmomas, acral keratoses, papillomatous papules, and an increased risk for the development of breast, thyroid, and endometrial carcinoma. Bannayan-Riley-Ruvalcaba syndrome (BRRS), previously thought be distinct, shared clinical characteristics with Cowden syndrome, such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms, but had the additional features of developmental delay, macrocephaly, lipomas, hemangiomas, and pigmented speckled macules of the glans penis in males. Because features of BRRS and Cowden syndrome have been found in individuals within the same family with the same PTEN mutation, Cowden syndrome-1 and BRRS are considered to be the same disorder with variable expression and age-related penetrance (summary by {59:Marsh et al., 1999}, {48:Lachlan et al., 2007}, and {9:Blumenthal and Dennis, 2008}).\n\nApproximately 80% of patients reported with Cowden syndrome and 60% with BRSS have PTEN mutations ({9:Blumenthal and Dennis, 2008}).\n\nSome patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by {11:Browning et al., 2015}).",[158350],[201],[Cowden syndrome],[6202],,,,, +GARD:16451,Active,Orphanet+OMIM,OMIM:251450,Subtype of disorder,[Malformation syndrome subtype],Desbuquois dysplasia 1,"[micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification, Desbuquois syndrome]","Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by {15:Huber et al., 2009}).\n\nDesbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints ({9:Faivre et al., 2004}). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD ({13:Furuichi et al., 2011}). In addition, {16:Kim et al. (2010)} described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD ({13:Furuichi et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Desbuquois Dysplasia\n\nDBQD2 ({615777}) is caused by mutation in the XYLT1 gene ({608124}) on chromosome 16p12.\n\nTwo unrelated patients with immunodeficiency-23 (IMD23; {615816}), due to mutation in the PGM3 gene ({172100}), were reported to have skeletal features reminiscent of DBQD.",[251450],[1425],[Desbuquois syndrome],[1818],,,,, +GARD:16452,Active,Orphanet+OMIM,OMIM:278730,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group d","[Xp, group d, xp, group h, formerly, xeroderma pigmentosum iv, xp4 xeroderma pigmentosum viii, formerly]","Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by {3:Flejter et al., 1992}).",[278730],"[220295, 910]","[Xeroderma pigmentosum, Xeroderma pigmentosum-Cockayne syndrome complex]","[7910, 17130]",,,,, +GARD:16453,Active,Orphanet+OMIM,OMIM:611944,Subtype of disorder,[Disease subtype],Lymphatic malformation 2,,"Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {2:Gordon et al., 2013} and {1:Balboa-Beltran et al., 2014}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see {153100}.",[611944],[79452],[Milroy disease],[7220],,,,, +GARD:16454,Active,Orphanet+OMIM,OMIM:612580,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 3","[Mental retardation, autosomal dominant 3]",,[612580],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16455,Active,Orphanet+OMIM,OMIM:612581,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 4",,,[612581],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16456,Active,Orphanet+OMIM,OMIM:613480,Subtype of disorder,[Disease subtype],Lymphatic malformation 3,"[Lymphedema, hereditary, ic, formerly]","Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {3:Gordon et al., 2013} and {1:Balboa-Beltran et al., 2014}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see {153100}.",[613480],[79452],[Milroy disease],[7220],,,,, +GARD:16457,Active,Orphanet+OMIM,OMIM:613943,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 8","[Lamellar ichthyosis, late-onset, ichthyosis, lamellar, 4, formerly]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {4:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({7:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {3:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[613943],[313],[Lamellar ichthyosis],[10803],,,,, +GARD:16458,Active,Orphanet+OMIM,OMIM:614113,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 2",,,[614113],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16459,Active,Orphanet+OMIM,OMIM:614255,Subtype of disorder,[Etiological subtype],Nescav syndrome,"[Neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment, mental retardation, autosomal dominant 9, formerly]","NESCAV syndrome (NESCAVS) is a neurodegenerative disorder characterized by onset of features in infancy or early childhood. Affected individuals show global developmental delay with delayed walking or difficulty walking due to progressive spasticity mainly affecting the lower limbs and often leading to loss of independent ambulation. There is variably impaired intellectual development, speech delay, and learning disabilities and/or behavioral abnormalities. Additional features may include cortical visual impairment, often associated with optic atrophy, axonal peripheral neuropathy, seizures, dysautonomia, ataxia, and dystonia. Brain imaging often shows progressive cerebellar atrophy and thin corpus callosum. Some patients may show developmental regression, particularly of motor skills. The phenotype and presentation are highly variable (summary by {6:Nemani et al., 2020}).",[614255],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:1646,Active,Orphanet,ORPHA:3327,Disorder,[Malformation syndrome],Thyrocerebrorenal syndrome,[Cutler-Bass-Romshe syndrome],"A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.",[274240],,,,,Cutler Bass Romshe syndrome,TRUE,FALSE,Active +GARD:16460,Active,Orphanet+OMIM,OMIM:614256,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 10","[Mental retardation, autosomal dominant 10]",,[614256],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16461,Active,Orphanet+OMIM,OMIM:614257,Subtype of disorder,[Etiological subtype],Chromosome 20q11-q12 deletion syndrome,"[mental retardation, autosomal dominant 11, included, Intellectual developmental disorder, autosomal dominant 11, included]","Chromosome 20q11-q12 deletion syndrome is characterized by global developmental delay, poor overall growth, sometimes with severe feeding difficulties, facial dysmorphism, and distal skeletal anomalies. Some patients may have hearing impairment, retinopathy, or cardiac defects. It is a multisystemic disorder with variable features (summary by {4:Loddo et al., 2018}).",[614257],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16462,Active,Orphanet+OMIM,OMIM:614563,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 13","[mental retardation, autosomal dominant 13, with neuronal migration defects, Mental retardation, autosomal dominant 13]","MRD13 is an autosomal dominant intellectual developmental disorder associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by {6:Willemsen et al., 2012} and {3:Poirier et al., 2013}).",[614563],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16463,Active,Orphanet+OMIM,OMIM:615107,Subtype of disorder,[Disease subtype],Cowden syndrome 4,,,[615107],[201],[Cowden syndrome],[6202],,,,, +GARD:16464,Active,Orphanet+OMIM,OMIM:615108,Subtype of disorder,[Disease subtype],Cowden syndrome 5,,,[615108],[201],[Cowden syndrome],[6202],,,,, +GARD:16465,Active,Orphanet+OMIM,OMIM:615109,Subtype of disorder,[Disease subtype],Cowden syndrome 6,,,[615109],[201],[Cowden syndrome],[6202],,,,, +GARD:16466,Active,Orphanet+OMIM,OMIM:615777,Subtype of disorder,[Malformation syndrome subtype],Desbuquois dysplasia 2,[Baratela-scott syndrome],"Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by {2:Bui et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 ({251450}).",[615777],[1425],[Desbuquois syndrome],[1818],,,,, +GARD:16467,Active,Orphanet+OMIM,OMIM:615828,Subtype of disorder,[Etiological subtype],Vulto-van silfhout-de vries syndrome,"[Intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures, mental retardation, autosomal dominant 24]","Vulto-van Silfout-de Vries syndrome (VSVS) is an intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities, including autistic features and poor eye contact. Most patients have additional nonspecific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances (summary by {2:Nabais Sa et al., 2019}).",[615828],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16468,Active,Orphanet+OMIM,OMIM:615907,Subtype of disorder,[Disease subtype],Lymphatic malformation 4,"[Lymphedema, hereditary, id, formerly]",,[615907],[79452],[Milroy disease],[7220],,,,, +GARD:16469,Active,Orphanet+OMIM,OMIM:616393,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 38","[Mental retardation, autosomal dominant 38, psychomotor retardation, epilepsy, and language disability syndrome]",,[616393],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16470,Active,Orphanet+OMIM,OMIM:616858,Subtype of disorder,[Disease subtype],Cowden syndrome 7,,,[616858],[201],[Cowden syndrome],[6202],,,,, +GARD:16471,Active,Orphanet+OMIM,OMIM:617571,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 14",,,[617571],[313],[Lamellar ichthyosis],[10803],,,,, +GARD:16472,Active,Orphanet+OMIM,OMIM:617796,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 52","[Mental retardation, autosomal dominant 52]",,[617796],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16473,Active,Orphanet+OMIM,OMIM:617798,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 53","[Mental retardation, autosomal dominant 53]",,[617798],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16474,Active,Orphanet+OMIM,OMIM:617799,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 54","[Mental retardation, autosomal dominant 54]",,[617799],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16475,Active,Orphanet+OMIM,OMIM:618095,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 63","[Mental retardation, autosomal recessive 63]",,[618095],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16476,Active,Orphanet+OMIM,OMIM:618106,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 58","[Mental retardation, autosomal dominant 58]",,[618106],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16477,Active,Orphanet+OMIM,OMIM:618330,Subtype of disorder,[Etiological subtype],Global developmental delay with or without impaired intellectual development,,,[618330],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16478,Active,Orphanet+OMIM,OMIM:619188,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 64","[Mental retardation, autosomal dominant 64]","Autosomal dominant intellectual developmental disorder-64 (MRD64) is characterized by mildly to severely impaired intellectual development (ID) with speech delays. Most patients also have autism spectrum disorder (ASD). Additional features are highly variable but may include motor delay, attention deficit-hyperactivity disorder (ADHD), and nonspecific dysmorphic features (summary by {1:Mirzaa et al., 2020}).",[619188],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:16479,Active,Orphanet,ORPHA:663,Disorder,[Disease],Mitochondrial DNA-related progressive external ophthalmoplegia,"[Maternally-inherited CPEO, Maternally-inherited chronic progressive external ophthalmoplegia, mtDNA-related progressive external ophthalmoplegia]",,,,,,,,,, +GARD:16480,Active,Orphanet,ORPHA:59181,Disorder,[Disease],Sorsby pseudoinflammatory fundus dystrophy,,"Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.","[136900, 264420]",,,,,,,, +GARD:16481,Active,Orphanet,ORPHA:280183,Disorder,[Biological anomaly],Methylmalonic aciduria due to transcobalamin receptor defect,"[Methylmalonic acidemia, TCb1R type, Methylmalonic acidemia, TCbIR type]","Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.",[613646],,,,,,,, +GARD:16482,Active,Orphanet,ORPHA:91483,Disorder,[Morphological anomaly],Rieger anomaly,,"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly (see this term).","[601631, 137600, 602482]",,,,,,,, +GARD:16483,Active,Orphanet+OMIM,OMIM:618641,Subtype of disorder,[Disease subtype],Infantile liver failure syndrome 3,,"Infantile liver failure syndrome-3 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there usually is complete recovery between episodes with conservative treatment. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads (summary by {1:Cousin et al., 2019}).\n\nFor a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 ({615438}).",[618641],[464724],[Fever-associated acute infantile liver failure syndrome],[17820],,,,, +GARD:16484,Active,Orphanet,ORPHA:98634,Group of disorders,[Category],Anterior segment developmental anomaly without extraocular manifestations,,,,,,,,,,, +GARD:16485,Active,Orphanet,ORPHA:98978,Disorder,[Morphological anomaly],Axenfeld anomaly,,"A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.","[601631, 602482]",,,,,,,, +GARD:16486,Active,Orphanet,ORPHA:254892,Disorder,[Disease],Autosomal dominant progressive external ophthalmoplegia,[adPEO],"A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.","[610131, 157640, 609286, 609283, 613077]",,,,,,,, +GARD:16487,Active,Orphanet,ORPHA:329931,Subtype of disorder,[Histopathological subtype],C3 glomerulonephritis,,"A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and the electron microscopic findings of predominant subendothelial, occasionally subepithelial (so-called ''humps''), and intramembranous deposits, but without the typical electron-dense deposits of dense deposit disease.",[614809],,,,,,,, +GARD:16489,Active,Orphanet,ORPHA:280133,Disorder,[Disease],Complement component 3 deficiency,[C3 deficiency],"Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.",[613779],,,,,,,, +GARD:16490,Active,Orphanet,ORPHA:156005,Group of disorders,[Clinical group],Primary early-onset glaucoma,,,,,,,,,,, +GARD:16491,Active,Orphanet+OMIM,OMIM:100070,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial abdominal, 1",,"Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by {16:Kuivaniemi et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Abdominal Aortic Aneurysm\n\nMapped loci for abdominal aortic aneurysm include AAA1 on chromosome 19q13; AAA2 ({609782}) on chromosome 4q31; AAA3 ({611891}) on chromosome 9p21; and AAA4 ({614375}) on chromosome 12q13.",[100070],[86],[Familial abdominal aortic aneurysm],[9181],,,,, +GARD:16492,Active,Orphanet+OMIM,OMIM:609782,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial abdominal, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 ({100070}).",[609782],[86],[Familial abdominal aortic aneurysm],[9181],,,,, +GARD:16493,Active,Orphanet+OMIM,OMIM:611891,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial abdominal, 3",,"For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 ({100070}).",[611891],[86],[Familial abdominal aortic aneurysm],[9181],,,,, +GARD:16494,Active,Orphanet+OMIM,OMIM:614375,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial abdominal, 4",,"For a phenotypic description and a discussion of genetic heterogeneity of abdominal aortic aneurysm, see AAA1 ({100070}).",[614375],[86],[Familial abdominal aortic aneurysm],[9181],,,,, +GARD:16495,Active,Orphanet+OMIM,OMIM:618388,Subtype of disorder,[Malformation syndrome subtype],Fetal akinesia deformation sequence 2,,"The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism ({3:Vogt et al., 2009}). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see {253290}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FADS, see {208150}.",[618388],[994],[Fetal akinesia deformation sequence],[9634],,,,, +GARD:16496,Active,Orphanet+OMIM,OMIM:618389,Subtype of disorder,[Malformation syndrome subtype],Fetal akinesia deformation sequence 3,,"The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism ({2:Vogt et al., 2009}). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see {253290}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FADS, see {208150}.",[618389],[994],[Fetal akinesia deformation sequence],[9634],,,,, +GARD:16497,Active,Orphanet+OMIM,OMIM:618393,Subtype of disorder,[Malformation syndrome subtype],Fetal akinesia deformation sequence 4,,"Fetal akinesia deformation sequence-4 (FADS4) is an autosomal recessive disorder characterized by decreased fetal movements due to impaired neuromuscular function, resulting in significant congenital contractures and death in utero or soon after birth (summary by {1:Bonnin et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FADS, see {208150}.",[618393],[994],[Fetal akinesia deformation sequence],[9634],,,,, +GARD:16498,Active,Orphanet+OMIM,OMIM:609283,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2","[Progressive external ophthalmoplegia, autosomal dominant 2]","Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({1:Filosto et al., 2003}; {8:Luoma et al., 2004}).\n\nPEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes ({7:Lamantea et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640}).",[609283],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,,,, +GARD:16499,Active,Orphanet+OMIM,OMIM:609286,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3","[Progressive external ophthalmoplegia, autosomal dominant 3]","Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by {3:Fratter et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640}).\n\nPEO caused by mutations in the POLG gene ({174763}) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 ({103220}) or C10ORF2 genes ({6:Lamantea et al., 2002}).",[609286],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,,,, +GARD:16500,Active,Orphanet+OMIM,OMIM:610131,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4","[Progressive external ophthalmoplegia, autosomal dominant 4]","Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by {2:Young et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640}).",[610131],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,,,, +GARD:16501,Active,Orphanet+OMIM,OMIM:613077,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5","[Progressive external ophthalmoplegia, autosomal dominant 5]",,[613077],[254892],[Autosomal dominant progressive external ophthalmoplegia],[16486],,,,, +GARD:16502,Active,Orphanet+OMIM,OMIM:166780,Subtype of disorder,[Malformation syndrome subtype],Otofaciocervical syndrome 1,[Ofc],"Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by {5:Pohl et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Otofaciocervical Syndrome\n\nOTFCS2 ({615560}) is caused by mutation in the PAX1 gene ({167411}) on chromosome 20p11.",[166780],[2792],[Otofaciocervical syndrome],[4169],,,,, +GARD:16503,Active,Orphanet+OMIM,OMIM:615560,Subtype of disorder,[Malformation syndrome subtype],"Otofaciocervical syndrome 2, with t-cell deficiency",[Ofc2],"Otofaciocervical syndrome-2 with T-cell deficiency (OTFCS2) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by {3:Pohl et al., 2013}). Patients have been reported who also exhibit altered thymus development with T-cell immunodeficiency and recurrent, sometimes fatal, infections ({1:Paganini et al., 2017}; {4:Yamazaki et al., 2020}).\n\nFor a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 ({166780}).",[615560],[2792],[Otofaciocervical syndrome],[4169],,,,, +GARD:16504,Active,Orphanet+OMIM,OMIM:605751,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 2","[Convulsions, benign familial infantile, 2]","Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by {10:Weber et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).\n\nBenign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA; {602066}) and paroxysmal kinesigenic choreoathetosis (EKD1; {128200}).",[605751],[306],[Benign familial infantile epilepsy],[857],,,,, +GARD:16505,Active,Orphanet+OMIM,OMIM:612627,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).",[612627],[306],[Benign familial infantile epilepsy],[857],,,,, +GARD:16506,Active,Orphanet+OMIM,OMIM:617080,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 5","[Convulsions, benign familial infantile, 5]","Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by {2:Gardella et al., 2016} and {1:Anand et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).",[617080],[306],[Benign familial infantile epilepsy],[857],,,,, +GARD:16507,Active,Orphanet+OMIM,OMIM:602096,Subtype of disorder,[Disease subtype],Alzheimer disease 5,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[602096],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16508,Active,Orphanet+OMIM,OMIM:605055,Subtype of disorder,[Disease subtype],"Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology",,,[605055],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16509,Active,Orphanet+OMIM,OMIM:605526,Subtype of disorder,[Disease subtype],Alzheimer disease 6,,"Alzheimer disease (AD) is a neurodegenerative disorder characterized by subtle onset of memory loss followed by a slowly progressive dementia. The great majority of AD cases are of late onset (LOAD) after age 65 years. LOAD shows complex, nonmendelian patterns of inheritance, and most likely results from the combined effects of variation in a number of genes as well as from environmental factors (summary by {11:Grupe et al., 2006}).\n\nThe Alzheimer disease-6 (AD6) designation refers to a susceptibility locus on chromosome 10q. Although significant associations with several candidate genes on chromosome 10 have been reported, these findings have not been consistently replicated, and they remain controversial ({11:Grupe et al., 2006}).\n\nFor a discussion of genetic heterogeneity of Alzheimer disease, see {104300}.",[605526],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16510,Active,Orphanet+OMIM,OMIM:606187,Subtype of disorder,[Disease subtype],Alzheimer disease 7,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[606187],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16511,Active,Orphanet+OMIM,OMIM:606889,Subtype of disorder,[Disease subtype],Alzheimer disease 4,"[Ad4, alzheimer disease, familial, 4]",,[606889],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16512,Active,Orphanet+OMIM,OMIM:607116,Subtype of disorder,[Disease subtype],Alzheimer disease 8,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[607116],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16513,Active,Orphanet+OMIM,OMIM:607822,Subtype of disorder,[Disease subtype],Alzheimer disease 3,"[alzheimer disease, familial, 3, Alzheimer disease 3, early-onset]",,[607822],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16514,Active,Orphanet+OMIM,OMIM:609636,Subtype of disorder,[Disease subtype],Alzheimer disease 10,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[609636],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16515,Active,Orphanet+OMIM,OMIM:609790,Subtype of disorder,[Disease subtype],Alzheimer disease 11,,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[609790],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16516,Active,Orphanet+OMIM,OMIM:611073,Subtype of disorder,[Disease subtype],Alzheimer disease 12,,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}.",[611073],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16517,Active,Orphanet+OMIM,OMIM:611152,Subtype of disorder,[Disease subtype],Alzheimer disease 13,,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}.",[611152],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16518,Active,Orphanet+OMIM,OMIM:611154,Subtype of disorder,[Disease subtype],Alzheimer disease 14,,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}.",[611154],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,,,, +GARD:16519,Active,Orphanet+OMIM,OMIM:182230,Subtype of disorder,[Disease subtype],Septooptic dysplasia,[De morsier syndrome],"Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum ({8:Dattani et al., 1998}). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by {24:Webb and Dattani, 2010}).\n\nAlso see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.",[182230],[95494],"[Combined pituitary hormone deficiencies, genetic forms]",[10602],,,,, +GARD:16520,Active,Orphanet+OMIM,OMIM:613986,Subtype of disorder,[Disease subtype],"Pituitary hormone deficiency, combined, 6",,,[613986],[95494],"[Combined pituitary hormone deficiencies, genetic forms]",[10602],,,,, +GARD:16521,Active,Orphanet+OMIM,OMIM:607745,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 3","[seizures, benign familial neonatal-infantile, Convulsions, benign familial infantile, 3]","Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae ({7:Shevell et al., 1986}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).",[607745],[306],[Benign familial infantile epilepsy],[857],,,,, +GARD:16522,Active,Orphanet,ORPHA:187,Group of disorders,[Category],Citrullinemia,,"Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms).",,,,,,,,, +GARD:16523,Active,Orphanet,ORPHA:364,Disorder,[Disease],Glycogen storage disease due to glucose-6-phosphatase deficiency,"[G6P deficiency, GSD due to G6P deficiency, GSD type 1, GSD type I, Glycogen storage disease due to G6P deficiency, Glycogen storage disease type 1, Glycogen storage disease type I, Glycogenosis type 1, Glycogenosis type I, Hepatorenal glycogenosis, Von Gierke disease]","Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.","[232240, 232200, 232220]",,,,,,,, +GARD:16524,Active,Orphanet,ORPHA:79133,Subtype of disorder,[Clinical subtype],Focal facial dermal dysplasia type I,"[Bitemporal aplasia cutis congenita, Brauer syndrome, FFDD type I, FFDD1, Focal facial dermal dysplasia 1, Brauer type, Focal facial dermal dysplasia type 1]","Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia.",[136500],,,,,,,, +GARD:16526,Active,Orphanet,ORPHA:205,Disorder,[Disease],Crigler-Najjar syndrome,"[Bilirubin uridinediphosphate glucuronosyltransferase deficiency, Bilirubin-UGT deficiency]",A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy.,"[606785, 218800]",,,,,,,, +GARD:16527,Active,Orphanet,ORPHA:301,Group of disorders,[Clinical group],Ependymal tumor,,"A tumor of neurectodermal origin arising from ependymal cells that line the ventricles and central canal of the spinal cord, that can occur in both children and adults, and that is characterized by wide a range of clinical manifestations depending on the location of the tumor, such as intracranial hypertension for tumors originating in the posterior fossa, behavioural changes and pyramidal signs for supratentorial tumors, and dysesthesia for tumors of the spinal cord. They can be classified as myxopapillary ependymoma, subependymoma, ependymoma (low grade tumors) or anaplastic ependymoma (grade III tumors).",[137800],,,,,,,, +GARD:16528,Active,Orphanet,ORPHA:317,Disorder,[Disease],Erythrokeratodermia variabilis,"[EKV, Erythrokeratodermia variabilis, Mendes da Costa type]",,"[617524, 617525, 617526, 133200]",,,,,,,, +GARD:16529,Active,Orphanet,ORPHA:391,Disorder,[Disease],Classic Hodgkin lymphoma,[Classic Hodgkin disease],Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.,"[236000, 300221, 400021]",,,,,,,, +GARD:1653,Legacy,GARD,,,,,,,,,,,,Cystic hygroma lethal cleft palate,TRUE,FALSE,Retired +GARD:16530,Active,Orphanet,ORPHA:416,Disorder,[Disease],Primary hyperoxaluria,,"A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH, types 1-3, all caused by liver-specific enzyme defects.","[259900, 260000, 613616]",,,,,,,, +GARD:16531,Active,Orphanet,ORPHA:422,Disorder,[Disease],Idiopathic/heritable pulmonary arterial hypertension,[Idiopathic and/or familial pulmonary arterial hypertension],"A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic.","[615342, 178600, 615343, 265400, 615344]",,,,,,,, +GARD:16532,Active,Orphanet,ORPHA:427,Disorder,[Disease],Familial hypoaldosteronism,,"A rare genetic hypoaldosteronism that typically presents in infancy (earl-onset familial hypoaldosternism) as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). A history of fever, diarrhoea, lethargy, poor weight gain, poor feeding since birth may also be present. Older subjects (late-onset familial hypoaldosteronism) are less severely affected or asymptomatic.","[606984, 203400, 610600]",,,,,,,, +GARD:16533,Active,Orphanet,ORPHA:432,Subtype of disorder,[Clinical subtype],Normosmic congenital hypogonadotropic hypogonadism,"[Normosmic idiopathic hypogonadotropic hypogonadism, nIHH]",,"[308700, 614837, 612370, 614838, 610628, 614839, 614840, 146110, 614841, 615269, 615270, 244200, 614842, 614858, 612702, 147950, 614880, 615266]",,,,,,,, +GARD:16534,Active,Orphanet,ORPHA:557,Group of disorders,[Clinical group],Non-syndromic anorectal malformation,[Non-syndromic ARM],"A wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.","[107100, 207500, 301800]",,,,,,,, +GARD:16535,Active,Orphanet,ORPHA:558,Disorder,[Disease],Marfan syndrome,[MFS],"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.","[154700, 610168]",,,,,,,, +GARD:16536,Active,Orphanet,ORPHA:598,Disorder,[Disease],Multiminicore myopathy,"[MmD, Multiminicore disease]",A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.,"[255320, 117000, 602771]",,,,,,,, +GARD:16537,Active,Orphanet,ORPHA:622,Disorder,[Disease],Homocystinuria without methylmalonic aciduria,"[Functional methionine synthase deficiency, Methylcobalamin deficiency]","Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).","[277410, 250940, 236270]",,,,,,,, +GARD:16538,Active,Orphanet,ORPHA:632,Subtype of disorder,[Clinical subtype],Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,,,[307200],,,,,,,, +GARD:16539,Active,Orphanet,ORPHA:650,Disorder,[Disease],LCAT deficiency,[Lecithin-cholesterol acyltransferase deficiency],"LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.","[245900, 136120]",,,,,,,, +GARD:1654,Active,Orphanet,ORPHA:229,Disorder,[Disease],Familial aortic dissection,"[Annuloaortic ectasia, Cystic medial necrosis of aorta]","Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.",[607086],,,,,Cystic medial necrosis of aorta,TRUE,FALSE,Active +GARD:16540,Active,Orphanet,ORPHA:660,Disorder,[Morphological anomaly],Omphalocele,,"A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.","[164750, 310980]",,,,,,,, +GARD:16541,Active,Orphanet,ORPHA:712,Disorder,[Disease],Hemolytic anemia due to glucophosphate isomerase deficiency,,Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.,[613470],,,,,,,, +GARD:16542,Active,Orphanet,ORPHA:737,Disorder,[Disease],Porokeratosis plantaris palmaris et disseminata,"[Palmar, plantar and disseminated porokeratosis]","A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones.",[175850],,,,,,,, +GARD:16543,Active,Orphanet,ORPHA:743,Disorder,[Disease],Severe hereditary thrombophilia due to congenital protein S deficiency,[Autosomal recessive thrombophilia due to congenital protein S deficiency],An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.,"[614514, 612336]",,,,,,,, +GARD:16544,Active,Orphanet,ORPHA:745,Disorder,[Disease],Severe hereditary thrombophilia due to congenital protein C deficiency,"[Autosomal recessive thrombophilia due to PC deficiency, Autosomal recessive thrombophilia due to congenital protein C deficiency]",Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.,"[612304, 176860]",,,,,,,, +GARD:16545,Active,Orphanet,ORPHA:756,Disorder,[Disease],Pseudohypoaldosteronism type 1,"[PHA type 1, PHA1]","A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration.","[264350, 177735]",,,,,,,, +GARD:16546,Active,Orphanet,ORPHA:759,Disorder,[Disease],Central precocious puberty,"[CPP, Gonadotropin-dependant precocious puberty]","Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).","[615346, 176400]",,,,,,,, +GARD:16547,Active,Orphanet,ORPHA:768,Group of disorders,[Clinical group],Familial long QT syndrome,"[Congenital long QT syndrome, LQTS]","A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias.","[220400, 611818, 616247, 611819, 618447, 611820, 616249, 613693, 601005, 613695, 600919, 603830, 612955, 613688, 613485, 192500, 612347]",,,,,,,, +GARD:16548,Active,Orphanet,ORPHA:785,Disorder,[Disease],Estrogen resistance syndrome,,"Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.",[615363],,,,,,,, +GARD:16549,Active,Orphanet,ORPHA:833,Disorder,[Disease],Encephalopathy due to sulfite oxidase deficiency,,"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.","[272300, 252160, 615501, 252150]",,,,,,,, +GARD:16550,Active,Orphanet,ORPHA:844,Disorder,[Disease],Lown-Ganong-Levine syndrome,"[Atrial tachyarrhythmia with short PR interval, LGL syndrome]","Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).",[108950],,,,,,,, +GARD:16551,Active,Orphanet,ORPHA:959,Disorder,[Malformation syndrome],Acro-renal-ocular syndrome,,"A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome.",[607323],,,,,,,, +GARD:16552,Active,Orphanet,ORPHA:983,Disorder,[Morphological anomaly],Testicular regression syndrome,"[ETRS, Embryonic testicular regression syndrome, TRS, Vanishing testes syndrome, Vanishing testis syndrome, XY gonadal agenesis syndrome]","Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.",[273250],,,,,,,, +GARD:16553,Active,Orphanet,ORPHA:1014,Disorder,[Disease],Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,[Devriendt-Vandenberghe-Fryns syndrome],"A rare syndromic intellectual disability characterized by the association of total, congenital alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Reported electroencephalography findings were normal.",[601217],,,,,,,, +GARD:16554,Active,Orphanet,ORPHA:1027,Disorder,[Malformation syndrome],Autosomal recessive amelia,,"A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.",[601360],,,,,,,, +GARD:16555,Active,Orphanet,ORPHA:1083,Disorder,[Morphological anomaly],Microlissencephaly,,"Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.","[614019, 616212]",,,,,,,, +GARD:16556,Active,Orphanet,ORPHA:1147,Disorder,[Malformation syndrome],Sheldon-Hall syndrome,"[Distal arthrogryposis type 2B, Freeman-Sheldon syndrome variant]","Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.","[618435, 616266, 601680]",,,,,,,, +GARD:16557,Active,Orphanet,ORPHA:1166,Disorder,[Morphological anomaly],Congenital unilateral hypoplasia of depressor anguli oris,[Isolated asymmetric crying facies],"A rare, isolated, congenital, head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies.",[125520],,,,,,,, +GARD:16558,Active,Orphanet,ORPHA:1175,Disorder,[Disease],X-linked progressive cerebellar ataxia,,"A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.",[302500],,,,,,,, +GARD:16559,Active,Orphanet,ORPHA:1178,Disorder,[Disease],Ataxia-tapetoretinal degeneration syndrome,,"A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.",[272600],,,,,,,, +GARD:16560,Active,Orphanet,ORPHA:1182,Disorder,[Disease],Spastic ataxia with congenital miosis,"[Autosomal dominant spastic ataxia type 7, SPAX7]","Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.",[108650],,,,,,,, +GARD:16561,Active,Orphanet,ORPHA:1194,Disorder,[Disease],TMEM70-related mitochondrial encephalo-cardio-myopathy,"[Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency, Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency, Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency]","Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.",[614052],,,,,,,, +GARD:16562,Active,Orphanet,ORPHA:1295,Disorder,[Malformation syndrome],Brachytelephalangy-dysmorphism-Kallmann syndrome,,"A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986.",[113480],,,,,,,, +GARD:16563,Active,Orphanet,ORPHA:1336,Disorder,[Disease],Hyperkeratosis-hyperpigmentation syndrome,,"Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.",[144190],,,,,,,, +GARD:16564,Active,Orphanet,ORPHA:1344,Disorder,[Disease],Atrial standstill,[Atrial cardiomyopathy with heart block],"A rare cardiac rhythm disease characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.","[108770, 615745]",,,,,,,, +GARD:16565,Active,Orphanet,ORPHA:1422,Disorder,[Malformation syndrome],Chondrodysplasia-disorder of sex development syndrome,[Nivelon-Nivelon-Mabille syndrome],"A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia.",[600092],,,,,,,, +GARD:16566,Active,Orphanet,ORPHA:1479,Disorder,[Malformation syndrome],Atrial septal defect-atrioventricular conduction defects syndrome,,"An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.",[108900],,,,,,,, +GARD:16567,Active,Orphanet,ORPHA:1488,Disorder,[Malformation syndrome],Cooper-Jabs syndrome,[Aural atresia-multiple congenital anomalies-intellectual disability syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.",[209770],,,,,,,, +GARD:16568,Active,Orphanet,ORPHA:1507,Subtype of disorder,[Clinical subtype],Autosomal recessive Robinow syndrome,"[COVESDEM syndrome, Costovertebral segmentation defect-mesomelia syndrome, RRS]","Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.","[268310, 618529]",,,,,,,, +GARD:16569,Active,Orphanet,ORPHA:1561,Disorder,[Disease],Fatal infantile cytochrome C oxidase deficiency,"[Fatal infantile COX deficiency, Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency]",Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.,"[616500, 616501, 615119, 604377]",,,,,,,, +GARD:1657,Legacy,GARD,,,,,,,,,,,,Cytomegalic inclusion disease,TRUE,FALSE,Active +GARD:16570,Active,Orphanet,ORPHA:1587,Disorder,[Malformation syndrome],Monosomy 13q14,"[Del(13)(q14), Deletion 13q14]","Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.",[613884],,,,,,,, +GARD:16571,Active,Orphanet,ORPHA:1590,Disorder,[Malformation syndrome],Distal monosomy 13q,"[13q32 deletion, Deletion 13q32, Distal 13q deletion, Monosomy 13q32, Telomeric deletion13q]","Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.",[602553],,,,,,,, +GARD:16572,Active,Orphanet,ORPHA:1596,Disorder,[Malformation syndrome],Distal monosomy 15q,"[15q26 deletion syndrome, Distal 15q deletion syndrome, Monosomy 15q26, Telomeric 15q deletion syndrome]","Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.",[612626],,,,,,,, +GARD:16573,Active,Orphanet,ORPHA:1621,Disorder,[Malformation syndrome],3q13 microdeletion syndrome,"[Del(3)(q13), Monosomy 3q13]","3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.",[615433],,,,,,,, +GARD:16574,Active,Orphanet,ORPHA:1646,Disorder,[Malformation syndrome],Partial chromosome Y deletion,[Male sterility due to chromosome Y deletion],Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.,"[400042, 415000]",,,,,,,, +GARD:16575,Active,Orphanet,ORPHA:1653,Disorder,[Disease],Dentin dysplasia,[DD],Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms).,"[125420, 125400]",,,,,,,, +GARD:16576,Active,Orphanet,ORPHA:1670,Disorder,[Disease],Chronic diarrhea with villous atrophy,,"Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.","[618662, 520100]",,,,,,,, +GARD:16577,Active,Orphanet,ORPHA:1682,Disorder,[Malformation syndrome],Arterial dissection-lentiginosis syndrome,,"A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).",[600459],,,,,,,, +GARD:16578,Active,Orphanet,ORPHA:1812,Disorder,[Malformation syndrome],Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome,,"Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.",[225040],,,,,,,, +GARD:16579,Active,Orphanet,ORPHA:1848,Subtype of disorder,[Clinical subtype],"Renal agenesis, bilateral",,"A form of renal agenesis characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.","[191830, 617805]",,,,,,,, +GARD:1658,Legacy,GARD,,,,,,,,,,,,Cytoplasmic body myopathy,TRUE,FALSE,Active +GARD:16580,Active,Orphanet,ORPHA:1926,Disorder,[Malformation syndrome],Diabetic embryopathy,,A rare disorder characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother.,[601759],,,,,,,, +GARD:16581,Active,Orphanet,ORPHA:1935,Disorder,[Clinical syndrome],Early myoclonic encephalopathy,[Early myoclonic encephalopathy with suppression-bursts],"A rare disorder characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.","[616341, 609304, 617105]",,,,,,,, +GARD:16582,Active,Orphanet,ORPHA:2024,Disorder,[Malformation syndrome],Hereditary gingival fibromatosis,"[Autosomal dominant gingival fibromatosis, Autosomal dominant gingival hyperplasia, Hereditary gingival hyperplasia]","Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.","[611010, 135300, 617626, 605544, 609955]",,,,,,,, +GARD:16583,Active,Orphanet,ORPHA:2028,Subtype of disorder,[Clinical subtype],Juvenile hyaline fibromatosis,"[Murray-Puretic-Drescher syndrome, Puretic syndrome]","A rare hyaline fibromatosis syndrome characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material.",[228600],,,,,,,, +GARD:16584,Active,Orphanet,ORPHA:2076,Group of disorders,[Clinical group],X-linked intellectual disability-epilepsy syndrome,,,"[300607, 300088, 300423]",,,,,,,, +GARD:16585,Active,Orphanet,ORPHA:2138,Disorder,[Malformation syndrome],"46,XX ovotesticular disorder of sex development","[46,XX ovotesticular DSD]","A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.",[400045],,,,,,,, +GARD:16586,Active,Orphanet,ORPHA:2149,Disorder,[Morphological anomaly],Nodular neuronal heterotopia,,"A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood.","[612881, 300049, 617201, 608098, 608097, 615544]",,,,,,,, +GARD:16587,Active,Orphanet,ORPHA:2197,Disorder,[Disease],Idiopathic hypercalciuria,,"A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients.","[143870, 607258]",,,,,,,, +GARD:16588,Active,Orphanet,ORPHA:2232,Disorder,[Disease],Primary hypergonadotropic hypogonadism-partial alopecia syndrome,[Al Awadi-Farag-Teebi syndrome],This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.,[241090],,,,,,,, +GARD:16589,Active,Orphanet,ORPHA:2239,Subtype of disorder,[Clinical subtype],Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,,"A rare genetic hypoparathyroidism characterized by severe hypocalcemia, seizures, hyperphosphatemia, and undetectable parathyroid hormone levels, in the absence of parathyroid tissue. Complications include psychomotor and growth delay, delayed dentition, and cataracts.","[146200, 307700]",,,,,,,, +GARD:16590,Active,Orphanet,ORPHA:2250,Disorder,[Disease],Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,"[Bosma arhinia-microphthalmia syndrome, Bosma-Henkin-Christiansen syndrome]","This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.",[603457],,,,,,,, +GARD:16591,Active,Orphanet,ORPHA:2257,Disorder,[Morphological anomaly],Primary pulmonary hypoplasia,,"Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.",[265430],,,,,,,, +GARD:16592,Active,Orphanet,ORPHA:2301,Disorder,[Morphological anomaly],Congenital short bowel syndrome,,"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.","[300048, 615237]",,,,,,,, +GARD:16593,Active,Orphanet,ORPHA:2310,Disorder,[Malformation syndrome],Absence deformity of leg-cataract syndrome,,"A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.",[246000],,,,,,,, +GARD:16594,Active,Orphanet,ORPHA:2333,Disorder,[Malformation syndrome],Kenny-Caffey syndrome,[Kenny syndrome],"A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. Additional manifestations include ocular and dental anomalies (e.g. corneal opacity, hyperopia, optic atrophy, tortuous retinal vessels, dental caries, enamel defects) and, occasionally, hypoplastic nails and neonatal liver disease. Inheritance may be autosomal dominant or autosomal recessive, with more severe growth retardation, small hands and feet, intellectual disability, microcephaly and recurrent bacterial infections being observed in the latter.","[244460, 127000]",,,,,,,, +GARD:16595,Active,Orphanet,ORPHA:2370,Disorder,[Malformation syndrome],Larsen-like osseous dysplasia-short stature syndrome,,"Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.",[608545],,,,,,,, +GARD:16596,Active,Orphanet,ORPHA:2374,Disorder,[Malformation syndrome],Congenital laryngeal web,,A rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.,[150360],,,,,,,, +GARD:16597,Active,Orphanet,ORPHA:2375,Disorder,[Malformation syndrome],Laryngeal abductor paralysis-intellectual disability syndrome,[Plott syndrome],"A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features.",[308850],,,,,,,, +GARD:16598,Active,Orphanet,ORPHA:2429,Disorder,[Malformation syndrome],Macrocephaly-spastic paraplegia-dysmorphism syndrome,[Fryns macrocephaly],"Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.",[600302],,,,,,,, +GARD:16599,Active,Orphanet,ORPHA:2430,Disorder,[Malformation syndrome],Congenital macroglossia,,"A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes.",[153630],,,,,,,, +GARD:166,Active,Orphanet,ORPHA:799,Disorder,[Disease],Schizencephaly,,"A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.",[269160],,,,,Schizencephaly,TRUE,FALSE,Active +GARD:16600,Active,Orphanet,ORPHA:2451,Disorder,[Malformation syndrome],Mucocutaneous venous malformations,"[Cutaneous and mucosal venous malformation, VMCM]","Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.",[600195],,,,,,,, +GARD:16601,Active,Orphanet,ORPHA:2477,Disorder,[Malformation syndrome],Megalencephaly,[Macroencephaly],"A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.","[155350, 248000]",,,,,,,, +GARD:16602,Active,Orphanet,ORPHA:2489,Disorder,[Malformation syndrome],Upper limb defect-eye and ear abnormalities syndrome,,"A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.",[274205],,,,,,,, +GARD:16603,Active,Orphanet,ORPHA:2518,Disorder,[Malformation syndrome],Autosomal recessive chorioretinopathy-microcephaly syndrome,[Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome],"A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.","[251270, 616335]",,,,,,,, +GARD:16604,Active,Orphanet,ORPHA:2680,Disorder,[Malformation syndrome],Hypomyelination neuropathy-arthrogryposis syndrome,,"Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.","[616287, 618186, 616286, 617468]",,,,,,,, +GARD:16605,Active,Orphanet,ORPHA:2688,Disorder,[Disease],Adult idiopathic neutropenia,[Adult chronic idiopathic neutropenia],"A rare acquired immunodeficiency disease characterized by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent aphtous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.",[607847],,,,,,,, +GARD:16606,Active,Orphanet,ORPHA:2714,Disorder,[Malformation syndrome],Oculo-palato-cerebral syndrome,[Oculo-palato-cerebral dwarfism],"Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.",[257910],,,,,,,, +GARD:16607,Active,Orphanet,ORPHA:2718,Disorder,[Malformation syndrome],Oculotrichodysplasia,[Cecato de Lima-Pinheiro syndrome],"A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.",[257960],,,,,,,, +GARD:16608,Active,Orphanet,ORPHA:2733,Disorder,[Malformation syndrome],Omodysplasia,,"Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.","[258315, 164745]",,,,,,,, +GARD:16609,Active,Orphanet,ORPHA:2809,Disorder,[Disease],Familial recurrent peripheral facial palsy,[Familial recurrent Bell palsy],"Familial recurrent peripheral facial palsy is a rare peripheral neuropathy characterized by an acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously, and it might be recurrent with no obvious precipitating factors.",[134200],,,,,,,, +GARD:16610,Active,Orphanet,ORPHA:2828,Disorder,[Disease],Young-onset Parkinson disease,"[Early-onset Parkinson disease, YOPD]","A rare, genetic, parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease.","[606852, 610297, 615528, 606324, 602404, 616840, 300557, 600116, 605909, 613643]",,,,,,,, +GARD:16611,Active,Orphanet,ORPHA:2839,Disorder,[Malformation syndrome],Pelvis-shoulder dysplasia,"[Kosenow syndrome, Scapuloiliac dysostosis]",Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.,[169550],,,,,,,, +GARD:16612,Active,Orphanet,ORPHA:2868,Disorder,[Malformation syndrome],Short stature-valvular heart disease-characteristic facies syndrome,,"Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.",[126190],,,,,,,, +GARD:16613,Active,Orphanet,ORPHA:2880,Disorder,[Disease],Phosphoenolpyruvate carboxykinase deficiency,[PEPCK deficiency],"A rare gluconeogenesis disorder that results from impairment in the enzyme phosphoenolpyruvate carboxykinase, and comprised of cytosolic and mitochondrial forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.","[261650, 261680]",,,,,,,, +GARD:16614,Active,Orphanet,ORPHA:2916,Disorder,[Malformation syndrome],Postaxial polydactyly-dental and vertebral anomalies syndrome,,"Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.",[263540],,,,,,,, +GARD:16615,Active,Orphanet,ORPHA:2951,Disorder,[Malformation syndrome],Absent thumb-short stature-immunodeficiency syndrome,,"An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.",[274190],,,,,,,, +GARD:16616,Active,Orphanet,ORPHA:2968,Disorder,[Disease],Leukocyte adhesion deficiency,[LAD],"Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.","[116920, 266265, 612840]",,,,,,,, +GARD:16617,Active,Orphanet,ORPHA:2975,Disorder,[Malformation syndrome],"46,XX disorder of sex development-skeletal anomalies syndrome",,"A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972.",[264270],,,,,,,, +GARD:16618,Active,Orphanet,ORPHA:3047,Disorder,[Malformation syndrome],"Blepharophimosis-intellectual disability syndrome, SBBYS type","[Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome, SBBYS variant of Ohdo syndrome, SBBYSS, Say-Barber-Biesecker-Young-Simpson syndrome]","A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present.",[603736],,,,,,,, +GARD:16619,Active,Orphanet,ORPHA:3092,Disorder,[Morphological anomaly],Fixed subaortic stenosis,,"Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.",[271950],,,,,,,, +GARD:16620,Active,Orphanet,ORPHA:3107,Subtype of disorder,[Clinical subtype],Autosomal dominant Robinow syndrome,,"The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.","[616331, 616894, 180700]",,,,,,,, +GARD:16621,Active,Orphanet,ORPHA:3137,Disorder,[Disease],Alpha-N-acetylgalactosaminidase deficiency,"[NAGA deficiency, Schindler disease]",A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.,"[609241, 609242]",,,,,,,, +GARD:16622,Active,Orphanet,ORPHA:3175,Disorder,[Disease],X-linked spasticity-intellectual disability-epilepsy syndrome,,"A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.",[308350],,,,,,,, +GARD:16623,Active,Orphanet,ORPHA:3189,Disorder,[Morphological anomaly],Congenital pulmonary valvar stenosis,[Congenital stenosis of pulmonary valve],"A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subpulmonary, or supravalvar levels (valvar, subpulmonary, supravalvar pulmonary stenosis (PS).",[265500],,,,,,,, +GARD:16624,Active,Orphanet,ORPHA:3231,Group of disorders,[Clinical group],Deafness-onychodystrophy syndrome,[Hearing loss-onychodystrophy syndrome],"Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.","[124480, 220500]",,,,,,,, +GARD:16625,Active,Orphanet,ORPHA:3260,Disorder,[Disease],Idiopathic hypereosinophilic syndrome,,"A rare hematologic disease characterized by eosinophilia without evidence of clonality persisting for at least six months, for which no underlying cause can be identified. The condition is associated with signs of organ damage and dysfunction. Clinical manifestations are highly variable, depending on the organ systems involved, and include rapidly developing, life-threatening cardiovascular or neurological complications.",[607685],,,,,,,, +GARD:16626,Active,Orphanet,ORPHA:3366,Disorder,[Morphological anomaly],Non-syndromic metopic craniosynostosis,"[Isolated metopic craniosynostosis, Isolated trigonocephaly, Non-syndromic metopic suture synostosis]",Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.,"[190440, 614485]",,,,,,,, +GARD:16627,Active,Orphanet,ORPHA:3384,Disorder,[Morphological anomaly],Truncus arteriosus,"[Common aorticopulmonary trunk, Common arterial trunk, TAC]",Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.,[217095],,,,,,,, +GARD:16628,Active,Orphanet,ORPHA:3467,Disorder,[Disease],Hereditary xanthinuria,"[Classic xanthinuria, Xanthic urolithiasis, Xanthine stone disease]","A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.","[278300, 603592]",,,,,,,, +GARD:16629,Active,Orphanet,ORPHA:30925,Subtype of disorder,[Clinical subtype],Hereditary central diabetes insipidus,"[Hereditary CDI, Hereditary neurogenic diabetes insipidus]","Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.","[125700, 304900]",,,,,,,, +GARD:16630,Active,Orphanet,ORPHA:33445,Disorder,[Malformation syndrome],Neuroectodermal melanolysosomal disease,[Elejalde disease],"Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.",[256710],,,,,,,, +GARD:16631,Active,Orphanet,ORPHA:33574,Disorder,[Disease],Glutamate-cysteine ligase deficiency,[Gamma-glutamylcysteine synthetase deficiency],"A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.",[230450],,,,,,,, +GARD:16632,Active,Orphanet,ORPHA:35078,Disorder,[Disease],T-B+ severe combined immunodeficiency due to JAK3 deficiency,[T-B+ SCID due to JAK3 deficiency],"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.",[600802],,,,,,,, +GARD:16633,Active,Orphanet,ORPHA:35093,Disorder,[Morphological anomaly],Non-syndromic sagittal craniosynostosis,"[Isolated sagittal craniosynostosis, Isolated scaphocephaly, Non-syndromic sagittal suture synostosis]",Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.,"[123100, 615529, 600775]",,,,,,,, +GARD:16634,Active,Orphanet,ORPHA:35099,Disorder,[Morphological anomaly],Non-syndromic bicoronal craniosynostosis,"[Isolated bicoronal craniosynostosis, Isolated brachycephaly, Non-syndromic bilateral coronal suture synostosis]",Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.,"[123100, 616602, 615314]",,,,,,,, +GARD:16635,Active,Orphanet,ORPHA:35120,Disorder,[Disease],Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,"[P5N deficiency, UMPH1 deficiency, Uridine 5'-monophosphate hydrolase deficiency]","Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.",[266120],,,,,,,, +GARD:16636,Active,Orphanet,ORPHA:35121,Disorder,[Disease],Lysosomal acid phosphatase deficiency,,"A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1971.",[200950],,,,,,,, +GARD:16637,Active,Orphanet,ORPHA:35612,Disorder,[Malformation syndrome],Nanophthalmos,[Nanophthalmia],"A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.","[611897, 613517, 615972, 600165, 609549]",,,,,,,, +GARD:16638,Active,Orphanet,ORPHA:35664,Subtype of disorder,[Etiological subtype],ALDH18A1-related De Barsy syndrome,"[Delta-1-pyrroline 5-carboxylate synthetase deficiency, Neurocutaneous syndrome, Bicknell type, P5CS deficiency]","A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.",[219150],,,,,,,, +GARD:16639,Active,Orphanet,ORPHA:35909,Disorder,[Disease],Combined deficiency of factor V and factor VIII,"[F5F8D, FV and FVIII combined deficiency]",A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.,"[227310, 227300, 613625]",,,,,,,, +GARD:16640,Active,Orphanet,ORPHA:36367,Disorder,[Malformation syndrome],Distal monosomy 1q,"[Distal deletion 1q, Monosomy 1qter, Telomeric deletion 1q]","A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.",[612337],,,,,,,, +GARD:16641,Active,Orphanet,ORPHA:37612,Disorder,[Disease],Episodic ataxia type 1,[Episodic ataxia with myokymia],"A frequent form of Hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.",[160120],,,,,,,, +GARD:16642,Active,Orphanet,ORPHA:39812,Disorder,[Disease],Graft versus host disease,[GVH],A rare disease that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.,[614395],,,,,,,, +GARD:16643,Active,Orphanet,ORPHA:43115,Disorder,[Disease],Hereditary myopathy with lactic acidosis due to ISCU deficiency,"[Aconitase deficiency, ISCU myopathy, Iron-sulfur cluster deficiency myopathy, Myopathy with exercise intolerance, Swedish type]",A rare disease characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.,[255125],,,,,,,, +GARD:16644,Active,Orphanet,ORPHA:47159,Disorder,[Disease],Proximal renal tubular acidosis,"[Renal tubular acidosis type 2, pRTA]",A rare renal tubular disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.,"[604278, 179830]",,,,,,,, +GARD:16645,Active,Orphanet,ORPHA:48431,Disorder,[Malformation syndrome],Congenital cataracts-facial dysmorphism-neuropathy syndrome,[CCFDN],Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.,[604168],,,,,,,, +GARD:16646,Active,Orphanet,ORPHA:50811,Disorder,[Disease],Lipodystrophy-intellectual disability-deafness syndrome,"[Lipodystrophy-intellectual disability-hearing loss syndrome, Rajab-Spranger syndrome]","Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.",[608154],,,,,,,, +GARD:16647,Active,Orphanet,ORPHA:50814,Disorder,[Malformation syndrome],Craniolenticulosutural dysplasia,[Boyadjiev-Jabs syndrome],"Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.",[607812],,,,,,,, +GARD:16648,Active,Orphanet,ORPHA:50815,Disorder,[Malformation syndrome],Branchiogenic deafness syndrome,"[Branchiogenic hearing loss syndrome, Mégarbané-Loiselet syndrome]","Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.",[609166],,,,,,,, +GARD:16649,Active,Orphanet,ORPHA:50944,Disorder,[Disease],Schöpf-Schulz-Passarge syndrome,"[Eccrine tumors-ectodermal dysplasia, Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome, Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome, Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome, SSPS]","Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.",[224750],,,,,,,, +GARD:16650,Active,Orphanet,ORPHA:51083,Disorder,[Disease],Familial short QT syndrome,[SQTS],"A rare, genetic cardiac rhythm disease characterized by a short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.","[609622, 609620, 609621]",,,,,,,, +GARD:16651,Active,Orphanet,ORPHA:51084,Disorder,[Disease],Torsade-de-pointes syndrome with short coupling interval,,"A rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.",[613600],,,,,,,, +GARD:16652,Active,Orphanet,ORPHA:52047,Disorder,[Malformation syndrome],Braddock syndrome,"[Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency]","Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.",[608406],,,,,,,, +GARD:16653,Active,Orphanet,ORPHA:52054,Disorder,[Malformation syndrome],Craniosynostosis-intracranial calcifications syndrome,[Longman-Tolmie syndrome],"Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.",[608432],,,,,,,, +GARD:16654,Active,Orphanet,ORPHA:52056,Disorder,[Malformation syndrome],Ulnar/fibula ray defect-brachydactyly syndrome,[Morava-Mehes syndrome],"A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.",[608571],,,,,,,, +GARD:16655,Active,Orphanet,ORPHA:52427,Disorder,[Disease],Retinitis punctata albescens,[RPA],A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.,[136880],,,,,,,, +GARD:16656,Active,Orphanet,ORPHA:53583,Disorder,[Disease],Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,"[DYT9, Episodic choreoathetosis/spasticity]","A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age.",[601042],,,,,,,, +GARD:16657,Active,Orphanet,ORPHA:53691,Disorder,[Morphological anomaly],Congenital cornea plana,,"A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.","[217300, 121400]",,,,,,,, +GARD:16658,Active,Orphanet,ORPHA:53696,Disorder,[Malformation syndrome],Arthrogryposis-anterior horn cell disease syndrome,"[AAHD, Vuopala disease]","A rare arthrogryposis syndrome characterized by the association of arthrogryposis multiplex congenita and a severe form of motor neuron disease with loss of anterior horn cells in the spinal cord. Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies, such as low-set ears, hypoplastic jaw, and short neck, as well as hypotonia and respiratory insufficiency. Some patients may survive into childhood and show developmental delay, markedly decreased muscle bulk, dystonic and involuntary movements, ataxia, and poor speech.",[611890],,,,,,,, +GARD:16659,Active,Orphanet,ORPHA:54057,Disorder,[Disease],Thrombotic thrombocytopenic purpura,"[Moschcowitz disease, TTP]","An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form.",[274150],,,,,,,, +GARD:1666,Active,Orphanet,ORPHA:2181,Disorder,[Malformation syndrome],Hydrocephaly-tall stature-joint laxity syndrome,[Daish-Hardman-Lamont syndrome],"Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.",[236660],,,,,Daish Hardman Lamont syndrome,TRUE,FALSE,Active +GARD:16660,Active,Orphanet,ORPHA:55881,Disorder,[Disease],Adamantinoma,[Adamantinoma of long bones],"A rare, primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most cases are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed.",[102660],,,,,,,, +GARD:16661,Active,Orphanet,ORPHA:59298,Disorder,[Disease],Schilder disease,[Myelinoclastic diffuse sclerosis],Schilder's disease is a progressive demyelinating disorder of the central nervous system.,[272100],,,,,,,, +GARD:16662,Active,Orphanet,ORPHA:60015,Disorder,[Malformation syndrome],Enlarged parietal foramina,"[Catlin marks, Fenestrae parietales symmetricae, Foramina parietalia permagna, Hereditary cranium bifidum, Symmetric parietal foramina]","Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.","[609597, 168500, 609566]",,,,,,,, +GARD:16663,Active,Orphanet,ORPHA:60026,Disorder,[Disease],Pulmonary nodular lymphoid hyperplasia,[Pulmonary pseudolymphoma],Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.,[178610],,,,,,,, +GARD:16664,Active,Orphanet,ORPHA:60033,Disorder,[Disease],Idiopathic bronchiectasis,,"Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).","[613071, 613021, 211400]",,,,,,,, +GARD:16665,Active,Orphanet,ORPHA:63269,Subtype of disorder,[Clinical subtype],Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis,[Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome],,[201750],,,,,,,, +GARD:16666,Active,Orphanet,ORPHA:63273,Disorder,[Disease],Distal myopathy with posterior leg and anterior hand involvement,[Distal ABD-filaminopathy],"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.",[614065],,,,,,,, +GARD:16667,Active,Orphanet,ORPHA:64280,Disorder,[Disease],Childhood absence epilepsy,[Pyknolepsy],"Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.","[611942, 607681, 612269, 611136, 600131]",,,,,,,, +GARD:16668,Active,Orphanet,ORPHA:64739,Disorder,[Disease],Ovarian hyperstimulation syndrome,[OHSS],"A rare non-malformative gynecological disease affecting pre-menopausal women usually following treatment with ovarian stimulating hormones, characterized by ovarian enlargement and, to varying degrees, shift of serum from the intravascular space to the third space, mainly into the peritoneal, pleural, and to a lesser extent to the pericardial cavities. Presenting symptoms include abdomen distention, pain, nausea, and vomiting. Severity ranges from mild to life-threatening and is complicated by increased risk of thrombosis, acute hepato-renal failure, acute respiratory distress syndrome, and ovarian torsion and rupture.",[608115],,,,,,,, +GARD:16669,Active,Orphanet,ORPHA:65287,Disorder,[Disease],Beta-ureidopropionase deficiency,[Beta-alanine synthase deficiency],"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).",[613161],,,,,,,, +GARD:1667,Legacy,GARD,,,,,,,,,,,,Dandy-Walker malformation with facial hemangioma,TRUE,FALSE,Retired +GARD:16670,Active,Orphanet,ORPHA:65288,Disorder,[Malformation syndrome],Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,[Pancreatic and cerebellar agenesis],Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.,[609069],,,,,,,, +GARD:16671,Active,Orphanet,ORPHA:65683,Disorder,[Disease],Isolated focal cortical dysplasia,[Epilepsy due to FCD],"Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.",[607341],,,,,,,, +GARD:16672,Active,Orphanet,ORPHA:65720,Disorder,[Malformation syndrome],Arthrogryposis-severe scoliosis syndrome,"[Distal arthrogryposis type 4, Distal arthrogryposis type IID]","Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.",[609128],,,,,,,, +GARD:16673,Active,Orphanet,ORPHA:66630,Disorder,[Disease],Congenital pseudoarthrosis of the clavicle,[Congenital pseudarthrosis of the clavicle],"Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.",[118980],,,,,,,, +GARD:16674,Active,Orphanet,ORPHA:66637,Disorder,[Malformation syndrome],Diaphanospondylodysostosis,,"Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.",[608022],,,,,,,, +GARD:16675,Active,Orphanet,ORPHA:67041,Disorder,[Disease],Hyaluronidase deficiency,"[MPS9, MPSIX, Mucopolysaccharidosis type 9, Mucopolysaccharidosis type IX]","A rare form of mucopolysaccharidosis characterized by abnormal storage of hyaluronan in lysosomes due to deficiency of hyaluronidase 1. Clinical manifestations include knee and/or hip pain associated with swelling, diffuse joint involvement with proliferative synovitis and occurrence of multiple periarticular soft-tissue masses, short stature, and dysmorphic craniofacial features (such as flattened nasal bridge, bifid uvula, and cleft palate).",[601492],,,,,,,, +GARD:16676,Active,Orphanet,ORPHA:67044,Disorder,[Disease],Thrombocytopenia with congenital dyserythropoietic anemia,"[Congenital dyserythropoietic anemia with thombocytopenia, X-linked congenital dyserythropoietic anemia with thrombocytopenia, XDAT]","Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.",[300367],,,,,,,, +GARD:16677,Active,Orphanet,ORPHA:67045,Subtype of disorder,[Clinical subtype],X-linked intellectual disability with isolated growth hormone deficiency,[MRGH],,[300123],,,,,,,, +GARD:16678,Active,Orphanet,ORPHA:69061,Disorder,[Clinical syndrome],Idiopathic steroid-sensitive nephrotic syndrome,,"A rare primary glomerulopathy of unknown cause characterized by edema, nephrotic-range proteinuria and hypoalbuminemia that responds to standard prednisone treatment within 4-6 weeks.",[615861],,,,,,,, +GARD:16679,Active,Orphanet,ORPHA:69082,Disorder,[Malformation syndrome],Odonto-tricho-ungual-digito-palmar syndrome,"[OTUDP syndrome, Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type]","A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997.",[601957],,,,,,,, +GARD:16680,Active,Orphanet,ORPHA:69084,Disorder,[Malformation syndrome],Pure hair and nail ectodermal dysplasia,"[HNED, Hair-nail ectodermal dysplasia, PHNED]","Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.","[614929, 614927, 602032, 614931, 614928]",,,,,,,, +GARD:16681,Active,Orphanet,ORPHA:69088,Disorder,[Disease],Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,[OL-EDA-ID],"This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.",[300291],,,,,,,, +GARD:16682,Active,Orphanet,ORPHA:69125,Disorder,[Malformation syndrome],Anonychia with flexural pigmentation,,"A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975.",[106750],,,,,,,, +GARD:16683,Active,Orphanet,ORPHA:69663,Disorder,[Disease],Low phospholipid-associated cholelithiasis,"[ABCB4-related cholelithiasis, LPAC]",A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.,[600803],,,,,,,, +GARD:16684,Active,Orphanet,ORPHA:69737,Disorder,[Malformation syndrome],Bosley-Salih-Alorainy syndrome,,"Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.",[601536],,,,,,,, +GARD:16685,Active,Orphanet,ORPHA:70474,Disorder,[Disease],Leigh syndrome with cardiomyopathy,"[Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency, Cardiomyopathy with myopathy due to COX deficiency, Leigh disease with myopathy]",,"[618228, 618252, 256000]",,,,,,,, +GARD:16686,Active,Orphanet,ORPHA:71271,Disorder,[Malformation syndrome],Split hand-split foot-deafness syndrome,[Split hand-split foot-hearing loss syndrome],"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.",[220600],,,,,,,, +GARD:16687,Active,Orphanet,ORPHA:71289,Disorder,[Malformation syndrome],Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,[ATRUS syndrome],Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).,"[616738, 605432]",,,,,,,, +GARD:16688,Active,Orphanet,ORPHA:71493,Disorder,[Disease],Familial thrombocytosis,"[Familial thrombocythemia, Hereditary thrombocythemia]","Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.","[614521, 187950, 601977]",,,,,,,, +GARD:16689,Active,Orphanet,ORPHA:71528,Subtype of disorder,[Etiological subtype],Obesity due to prohormone convertase I deficiency,[PCI deficiency],"A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients.",[600955],,,,,,,, +GARD:1669,Active,Orphanet,ORPHA:1566,Disorder,[Malformation syndrome],Dandy-Walker malformation-postaxial polydactyly syndrome,"[DWM with postaxial polydactyly, Pierquin syndrome]","A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.",[220220],,,,,Dandy-Walker malformation with postaxial polydactyly,TRUE,FALSE,Active +GARD:16690,Active,Orphanet,ORPHA:71529,Subtype of disorder,[Etiological subtype],Obesity due to melanocortin 4 receptor deficiency,[MC4R deficiency],"Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.","[618406, 601665]",,,,,,,, +GARD:16691,Active,Orphanet,ORPHA:73271,Disorder,[Disease],Bleeding diathesis due to a collagen receptor defect,,"Bleeding diathesis due to a collagen receptor defect is a rare, genetic coagulation disorder characterized by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia.","[614200, 614201]",,,,,,,, +GARD:16692,Active,Orphanet,ORPHA:75249,Disorder,[Disease],Familial isolated restrictive cardiomyopathy,[Familial or idiopathic restrictive cardiomyopathy],A rare genetic cardiac disease characterized by restrictive ventricular filling due to high ventricular stiffness that results in severe diastolic dysfunction in the absence of dilated or hypertrophied ventricles.,"[615248, 612422, 115210, 617047, 609578]",,,,,,,, +GARD:16693,Active,Orphanet,ORPHA:75326,Disorder,[Disease],Retinal arterial tortuosity,"[Familial isolated retinal arterial tortuosity, Retinal arteriolar tortuosity, Retinal hemorrhage with vascular tortuosity, Tortuosity of retinal arteries]","A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma.",[180000],,,,,,,, +GARD:16694,Active,Orphanet,ORPHA:75381,Disorder,[Disease],Cystoid macular dystrophy,"[Autosomal dominant cystoid macular edema, DCMD, Familial macular edema]","Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis.",[153880],,,,,,,, +GARD:16695,Active,Orphanet,ORPHA:75391,Disorder,[Disease],Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,[Primary immunodeficiency due to MCM4 deficiency],"A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.",[609981],,,,,,,, +GARD:16696,Active,Orphanet,ORPHA:79076,Subtype of disorder,[Clinical subtype],Juvenile polyposis of infancy,[Infantile juvenile polyposis syndrome],"Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.","[175050, 612242]",,,,,,,, +GARD:16697,Active,Orphanet,ORPHA:79094,Disorder,[Malformation syndrome],Grange syndrome,"[Grange occlusive arterial syndrome, Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome]","Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.",[602531],,,,,,,, +GARD:16698,Active,Orphanet,ORPHA:79106,Disorder,[Malformation syndrome],Eiken syndrome,,"A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.",[600002],,,,,,,, +GARD:16699,Active,Orphanet,ORPHA:79118,Disorder,[Disease],Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,,"A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others.",[610199],,,,,,,, +GARD:16700,Active,Orphanet,ORPHA:79128,Disorder,[Disease],Lymphoid interstitial pneumonia,[Lymphocytic interstitial pneumonia],"A rare idiopathic interstitial pneumonia characterized by a diffuse, dense, polyclonal lymphoid cell infiltration of the pulmonary interstitium and air spaces, with high prevalence in patients with immune dysregulation. Presenting symptoms are non-specific and include dyspnea and cough. The clinical course is highly variable, ranging from spontaneous resolution to progressive, fatal respiratory failure.",[247610],,,,,,,, +GARD:16701,Active,Orphanet,ORPHA:79134,Disorder,[Disease],DEND syndrome,[Developmental delay-epilepsy-neonatal diabetes syndrome],"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.",[606176],,,,,,,, +GARD:16702,Active,Orphanet,ORPHA:79135,Disorder,[Disease],Episodic ataxia type 3,[Episodic ataxia-vertigo-tinnitus-myokymia syndrome],"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.",[606554],,,,,,,, +GARD:16703,Active,Orphanet,ORPHA:79136,Disorder,[Disease],Episodic ataxia type 4,"[PATX, Periodic vestibulocerebellar ataxia]","Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.",[606552],,,,,,,, +GARD:16704,Active,Orphanet,ORPHA:79137,Disorder,[Disease],Generalized epilepsy-paroxysmal dyskinesia syndrome,[GEPD],"Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.",[609446],,,,,,,, +GARD:16705,Active,Orphanet,ORPHA:79141,Disorder,[Disease],Hereditary painful callosities,"[Keratosis palmoplantaris nummularis, PPK nummularis, Plamoplantar hyperkeratosis nummularis, Plamoplantar keratoderma nummularis]","A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed.",[114140],,,,,,,, +GARD:16706,Active,Orphanet,ORPHA:79146,Disorder,[Disease],Familial progressive hyperpigmentation,"[Melanosis diffusa congenita, Melanosis universalis hereditaria, Universal melanosis]","Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.","[614233, 145250]",,,,,,,, +GARD:16707,Active,Orphanet,ORPHA:79151,Disorder,[Disease],Acrokeratosis verruciformis of Hopf,[AKV of Hopf],"A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic 'church spire' appearance, with no acantholysis nor dyskeratosis associated.",[101900],,,,,,,, +GARD:16708,Active,Orphanet,ORPHA:79154,Disorder,[Disease],2-aminoadipic 2-oxoadipic aciduria,[Alpha-aminoadipic aciduria],"2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical phenotype.",[204750],,,,,,,, +GARD:16709,Active,Orphanet,ORPHA:79156,Disorder,[Disease],Seizures-intellectual disability due to hydroxylysinuria syndrome,,"A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.",[236900],,,,,,,, +GARD:1671,Active,Orphanet,ORPHA:2091,Disorder,[Malformation syndrome],Multinodular goiter-cystic kidney-polydactyly syndrome,"[Daneman-Davy-Mancer syndrome, Thyroid-renal-digital anomalies]","Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.",[138790],,,,,Daneman Davy Mancer syndrome,TRUE,FALSE,Active +GARD:16710,Active,Orphanet,ORPHA:79233,Disorder,[Disease],Hypoxanthine guanine phosphoribosyltransferase partial deficiency,"[HPRT deficiency, grade I, HPRT partial deficiency, HPRT-related gout, HPRT-related hyperuricemia, HPRT1 partial deficiency, Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency, Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I, Kelley-Seegmiller syndrome]","Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.",[300323],,,,,,,, +GARD:16711,Active,Orphanet,ORPHA:79240,Disorder,[Disease],Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,"[GSD due to liver and muscle phosphorylase kinase deficiency, GSD type 9B, GSD type IXb, Glycogen storage disease type 9B, Glycogen storage disease type IXb, Glycogenosis due to liver and muscle phosphorylase kinase deficiency, Glycogenosis type 9B, Glycogenosis type IXb]",A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.,[261750],,,,,,,, +GARD:16712,Active,Orphanet,ORPHA:79244,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E2 deficiency,"[Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency, Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase complex component E2 deficiency]","A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.",[245348],,,,,,,, +GARD:16713,Active,Orphanet,ORPHA:79302,Disorder,[Disease],Congenital bile acid synthesis defect type 3,"[BASD3, Oxysterol 7-alpha-hydroxylase deficiency]",Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.,[613812],,,,,,,, +GARD:16714,Active,Orphanet,ORPHA:79312,Subtype of disorder,[Clinical subtype],Vitamin B12-unresponsive methylmalonic acidemia type mut-,"[Partial deficiency of methylmalonyl-CoA mutase, Vitamin B12-unresponsive methylmalonic aciduria type mut-]","Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.",[251000],,,,,,,, +GARD:16715,Active,Orphanet,ORPHA:79346,Disorder,[Malformation syndrome],"Chondrodysplasia punctata, tibial-metacarpal type",,"A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.",[118651],,,,,,,, +GARD:16716,Active,Orphanet,ORPHA:79347,Disorder,[Malformation syndrome],"Chondrodysplasia punctata, Toriello type",[Toriello-Higgins-Miller syndrome],"Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.",[215105],,,,,,,, +GARD:16717,Active,Orphanet,ORPHA:79350,Subtype of disorder,[Etiological subtype],"3-phosphoserine phosphatase deficiency, infantile/juvenile form","[PSPH deficiency, infantile/juvenile form]","3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).",[614023],,,,,,,, +GARD:16718,Active,Orphanet,ORPHA:79351,Subtype of disorder,[Etiological subtype],"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form","[PHGDH deficiency, infantile/juvenile form]","3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form",[601815],,,,,,,, +GARD:16719,Active,Orphanet,ORPHA:79395,Disorder,[Disease],Keratoderma hereditarium mutilans with ichthyosis,"[Camisa disease, Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome, Loricrin keratoderma, Vohwinkel syndrome with ichthyosis]","Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.",[604117],,,,,,,, +GARD:1672,Legacy,GARD,,,,,,,,,,,,Davenport Donlan syndrome,TRUE,FALSE,Active +GARD:16720,Active,Orphanet,ORPHA:79409,Disorder,[Disease],Recessive dystrophic epidermolysis bullosa inversa,"[RDEB inversa, RDEB-I]",A rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which from adolescence or early adulthood are primarily confined to flexural skin sites.,[226600],,,,,,,, +GARD:16721,Active,Orphanet,ORPHA:79431,Subtype of disorder,[Clinical subtype],Oculocutaneous albinism type 1A,"[OCA1A, Tyrosinase-negative oculocutaneous albinism]","A severe form of oculocutaneous albinism type 1 (OCA1) characterized by complete absence of melanin and manifesting as white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.",[203100],,,,,,,, +GARD:16722,Active,Orphanet,ORPHA:79435,Disorder,[Disease],Oculocutaneous albinism type 4,[OCA4],"A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.",[606574],,,,,,,, +GARD:16723,Active,Orphanet,ORPHA:79457,Disorder,[Disease],Maculopapular cutaneous mastocytosis,[Urticaria pigmentosa],"Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.",[154800],,,,,,,, +GARD:16724,Active,Orphanet,ORPHA:79506,Disorder,[Disease],Cholesterol-ester transfer protein deficiency,"[CEPT deficiency, Familial hyperalphalipoproteinemia]",,"[143470, 614028]",,,,,,,, +GARD:16725,Active,Orphanet,ORPHA:79507,Disorder,[Disease],Hypotonia-failure to thrive-microcephaly syndrome,"[LTC4 synthase deficiency, Leukotriene C4 synthase deficiency]","Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.",[614037],,,,,,,, +GARD:16726,Active,Orphanet,ORPHA:79643,Disorder,[Disease],Autosomal recessive hyperinsulinism due to SUR1 deficiency,[Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency],"A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.",[256450],,,,,,,, +GARD:16727,Active,Orphanet,ORPHA:79644,Disorder,[Disease],Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,[Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency],"A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.",[601820],,,,,,,, +GARD:16728,Active,Orphanet,ORPHA:83454,Disorder,[Malformation syndrome],Glomuvenous malformation,"[Glomangiomatosis, Hereditary multiple glomangiomas, Multiple glomus tumors, VMGLOM, Venous malformations with glomus cells]","A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.",[138000],,,,,,,, +GARD:16729,Active,Orphanet,ORPHA:83620,Disorder,[Disease],Enteric anendocrinosis,[Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells],"A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.",[610370],,,,,,,, +GARD:16730,Active,Orphanet,ORPHA:84081,Disorder,[Disease],Senior-Boichis syndrome,"[Boichis disease, Nephronophthisis-hepatic fibrosis syndrome]","A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.","[616217, 613550]",,,,,,,, +GARD:16731,Active,Orphanet,ORPHA:84093,Disorder,[Disease],Hereditary thermosensitive neuropathy,,"Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.",[602107],,,,,,,, +GARD:16732,Active,Orphanet,ORPHA:84132,Disorder,[Disease],Desmin-related myopathy with Mallory body-like inclusions,[Early-onset desmin-related myopathy],,[602771],,,,,,,, +GARD:16733,Active,Orphanet,ORPHA:85112,Disorder,[Disease],Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,[Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome],"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.",[610644],,,,,,,, +GARD:16734,Active,Orphanet,ORPHA:85128,Disorder,[Disease],Bothnia retinal dystrophy,[Västerbotten dystrophy],"Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted.",[607475],,,,,,,, +GARD:16735,Active,Orphanet,ORPHA:85169,Disorder,[Malformation syndrome],Familial digital arthropathy-brachydactyly,,"Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.",[606835],,,,,,,, +GARD:16736,Active,Orphanet,ORPHA:85172,Disorder,[Disease],"Microcephalic osteodysplastic dysplasia, Saul-Wilson type",,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).",[618150],,,,,,,, +GARD:16737,Active,Orphanet,ORPHA:85184,Disorder,[Malformation syndrome],"Craniometadiaphyseal dysplasia, wormian bone type",,"Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.",[269300],,,,,,,, +GARD:16738,Active,Orphanet,ORPHA:85188,Disorder,[Malformation syndrome],"Metaphyseal dysplasia, Braun-Tinschert type",,"Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.",[605946],,,,,,,, +GARD:16739,Active,Orphanet,ORPHA:85192,Disorder,[Malformation syndrome],Calvarial doughnut lesions-bone fragility syndrome,[Familial doughnut lesions of skull],"A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic clavarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.",[126550],,,,,,,, +GARD:1674,Legacy,GARD,,,,,,,,,,,,Davis Lafer syndrome,TRUE,FALSE,Retired +GARD:16740,Active,Orphanet,ORPHA:85194,Disorder,[Malformation syndrome],Spondylo-ocular syndrome,,"Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.",[605822],,,,,,,, +GARD:16741,Active,Orphanet,ORPHA:85197,Disorder,[Disease],Genochondromatosis type 1,,"Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.",[137360],,,,,,,, +GARD:16742,Active,Orphanet,ORPHA:85276,Disorder,[Malformation syndrome],"X-linked intellectual disability, Armfield type",[Armfield syndrome],"X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.",[300261],,,,,,,, +GARD:16743,Active,Orphanet,ORPHA:85277,Disorder,[Malformation syndrome],"X-linked intellectual disability, Cantagrel type",,"A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.",[300912],,,,,,,, +GARD:16744,Active,Orphanet,ORPHA:85279,Disorder,[Malformation syndrome],KDM5C-related syndromic X-linked intellectual disability,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems.",[300534],,,,,,,, +GARD:16745,Active,Orphanet,ORPHA:85280,Disorder,[Malformation syndrome],X-linked intellectual disability-cubitus valgus-dysmorphism syndrome,,"X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.",[300471],,,,,,,, +GARD:16746,Active,Orphanet,ORPHA:85284,Disorder,[Malformation syndrome],BRESEK syndrome,[BRESHECK syndrome],"X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).",[308205],,,,,,,, +GARD:16747,Active,Orphanet,ORPHA:85290,Disorder,[Malformation syndrome],"X-linked intellectual disability, Wilson type",,"X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.",[309545],,,,,,,, +GARD:16748,Active,Orphanet,ORPHA:85294,Disorder,[Disease],X-linked epilepsy-learning disabilities-behavior disorders syndrome,,"X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).",[300491],,,,,,,, +GARD:16749,Active,Orphanet,ORPHA:85295,Subtype of disorder,[Clinical subtype],"HSD10 disease, atypical type","[HSD10 deficiency, atypical type, Syndromic X-linked intellectual disability type 10, X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome]",,[300438],,,,,,,, +GARD:16750,Active,Orphanet,ORPHA:85321,Disorder,[Malformation syndrome],"Deafness-intellectual disability syndrome, Martin-Probst type","[Hearing loss-intellectual disability syndrome, Martin-Probst type, Martin-Probst syndrome, X-linked deafness-intellectual disability syndrome syndrome, X-linked hearing loss-intellectual disability syndrome syndrome]","A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.",[300519],,,,,,,, +GARD:16751,Active,Orphanet,ORPHA:85324,Disorder,[Malformation syndrome],"X-linked intellectual disability, Shrimpton type",[MRXS9],"An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.",[300709],,,,,,,, +GARD:16752,Active,Orphanet,ORPHA:85329,Disorder,[Malformation syndrome],X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,,"A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.",[304340],,,,,,,, +GARD:16753,Active,Orphanet,ORPHA:85335,Disorder,[Malformation syndrome],Fried syndrome,,"Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.",[304340],,,,,,,, +GARD:16754,Active,Orphanet,ORPHA:85447,Disorder,[Disease],ATTRV30M amyloidosis,"[ATTRV30M-related amyloidosis, Familial amyloid polyneuropathy type I, Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type, TTR amyloid neuropathy, Transthyretin amyloid neuropathy, Transthyretin amyloid polyneuropathy]",Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.,[105210],,,,,,,, +GARD:16755,Active,Orphanet,ORPHA:85451,Disorder,[Disease],ATTRV122I amyloidosis,"[ATTR cardiomyopathy, ATTRV122I-related amyloidosis, TTR-related amyloid cardiomyopathy, TTR-related cardiac amyloidosis, Transthyretin amyloid cardiopathy, Transthyretin-related familial amyloid cardiomyopathy]",Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.,[105210],,,,,,,, +GARD:16756,Active,Orphanet,ORPHA:85453,Disorder,[Disease],X-linked reticulate pigmentary disorder,"[Familial cutaneous amyloidosis, PDR, Partington disease, X-linked cutaneous amyloidosis, XLPDR]","X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.",[301220],,,,,,,, +GARD:16757,Active,Orphanet,ORPHA:86813,Disorder,[Disease],Helicoid peripapillary chorioretinal degeneration,"[Atrophia areata, SCRA, Sveinsson chorioretinal atrophy]","Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.",[108985],,,,,,,, +GARD:16758,Active,Orphanet,ORPHA:86814,Disorder,[Disease],Benign adult familial myoclonic epilepsy,"[ADCME, Autosomal dominant cortical myoclonus and epilepsy, BAFME, Benign adult familial myoclonus epilepsy, FAME, FCMTE, Familial adult myoclonic epilepsy, Familial cortical myoclonic tremor and epilepsy]","Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.","[613608, 615400, 607876, 601068, 615127]",,,,,,,, +GARD:16759,Active,Orphanet,ORPHA:86815,Disorder,[Disease],Aplasia of lacrimal and salivary glands,"[ALSG, Congenital absence of lacrimal puncta and salivary glands]","A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.",[180920],,,,,,,, +GARD:16760,Active,Orphanet,ORPHA:86817,Disorder,[Disease],Hemolytic anemia due to adenylate kinase deficiency,,Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.,[612631],,,,,,,, +GARD:16761,Active,Orphanet,ORPHA:86818,Disorder,[Disease],Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,"[AMME complex, AMME syndrome, ATS-MR]","A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.","[300194, 300990]",,,,,,,, +GARD:16762,Active,Orphanet,ORPHA:86819,Disorder,[Disease],Atrichia with papular lesions,[Papular atrichia],"A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.",[209500],,,,,,,, +GARD:16763,Active,Orphanet,ORPHA:86822,Disorder,[Malformation syndrome],Lissencephaly type 3-metacarpal bone dysplasia syndrome,,"This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence (see these terms).",[601160],,,,,,,, +GARD:16764,Active,Orphanet,ORPHA:86830,Disorder,[Disease],"Chronic myeloproliferative disease, unclassifiable","[CMPD-U, Undifferentiated myeloproliferative disease]","Chronic myeloproliferative disease, unclassifiable is a hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.",[131440],,,,,,,, +GARD:16765,Active,Orphanet,ORPHA:86900,Disorder,[Disease],Interdigitating dendritic cell sarcoma,"[Interdigitating cell sarcoma, Reticulum cell sarcoma]","A rare dendritic cell tumor characterized by a neoplasm composed of spindle to ovoid cells with phenotypic features similar to those of interdigitating dendritic cells. Solitary lymph node involvement is common, although extranodal localization (in particular skin and soft tissue) has also been reported. Patients usually present with an asymptomatic mass, sometimes with systemic symptoms such as fatigue, fever, and night sweats. Generalized lymphadenopathy, splenomegaly, or hepatomegaly may be seen in rare cases. The clinical course is generally aggressive.",[267730],,,,,,,, +GARD:16766,Active,Orphanet,ORPHA:86919,Disorder,[Disease],Keratosis palmaris et plantaris-clinodactyly syndrome,[Palmoplantar keratoderma-clinodactyly syndrome],"Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.",[148520],,,,,,,, +GARD:16767,Active,Orphanet,ORPHA:86923,Disorder,[Disease],"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type","[Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type, PPK, Gamborg-Nielsen type]","Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive.",[244850],,,,,,,, +GARD:16768,Active,Orphanet,ORPHA:88629,Disorder,[Disease],Tritanopia,"[Blue colour blindness, Congenital tritanopia, Tritan colour blindness]",Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision.,[190900],,,,,,,, +GARD:16769,Active,Orphanet,ORPHA:88630,Disorder,[Malformation syndrome],Terminal osseous dysplasia-pigmentary defects syndrome,,"Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.",[300244],,,,,,,, +GARD:16770,Active,Orphanet,ORPHA:88635,Disorder,[Disease],Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,"[Myopathy due to calsequestrin and SERCA1 protein overload, Vacuolar aggregate myopathy]","A rare, genetic vaculolar myopathy characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.",[616231],,,,,,,, +GARD:16771,Active,Orphanet,ORPHA:88637,Subtype of disorder,[Clinical subtype],Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,[4H syndrome],,"[614381, 616494, 607694]",,,,,,,, +GARD:16772,Active,Orphanet,ORPHA:88659,Disorder,[Disease],Autosomal dominant progressive nephropathy with hypertension,,"A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.",[161900],,,,,,,, +GARD:16773,Active,Orphanet,ORPHA:88673,Group of disorders,[Clinical group],Hepatocellular carcinoma,[HCC],"Hepatocellular carcinoma is a primary hepatic cancer derived from well-differentiated hepatocytes. It is more frequent in adults than in childhood. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.",[114550],,,,,,,, +GARD:16774,Active,Orphanet,ORPHA:88917,Subtype of disorder,[Clinical subtype],X-linked Alport syndrome,,,[301050],,,,,,,, +GARD:16775,Active,Orphanet,ORPHA:88938,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2A,[PHA2A],,[145260],,,,,,,, +GARD:16776,Active,Orphanet,ORPHA:88939,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2B,[PHA2B],,[614491],,,,,,,, +GARD:16777,Active,Orphanet,ORPHA:88940,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2C,[PHA2C],,[614492],,,,,,,, +GARD:16778,Active,Orphanet,ORPHA:89838,Disorder,[Disease],Autosomal recessive generalized epidermolysis bullosa simplex,[Autosomal recessive generalized EBS],"A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation.",[601001],,,,,,,, +GARD:16779,Active,Orphanet,ORPHA:89843,Disorder,[Disease],Dystrophic epidermolysis bullosa pruriginosa,"[DEB pruriginosa, DEB-Pr, Pruriginous dystrophic epidermolysis bullosa]","A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.",[604129],,,,,,,, +GARD:16780,Active,Orphanet,ORPHA:89844,Subtype of disorder,[Clinical subtype],"Lissencephaly syndrome, Norman-Roberts type",[Microlissencephaly type A],"Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.",[257320],,,,,,,, +GARD:16781,Active,Orphanet,ORPHA:89937,Disorder,[Disease],Autosomal dominant hypophosphatemic rickets,"[ADHR, Autosomal dominant hypophosphatemia]","A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.",[193100],,,,,,,, +GARD:16782,Active,Orphanet,ORPHA:90001,Disorder,[Disease],X-linked cone dysfunction syndrome with myopia,[Bornholm eye disease],X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.,[300843],,,,,,,, +GARD:16783,Active,Orphanet,ORPHA:90023,Disorder,[Disease],Primary immunodeficiency syndrome due to LAMTOR2 deficiency,"[Primary immunodeficiency syndrome due to p14 deficiency, Primary immunodeficiency syndrome with short stature]","Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.",[610798],,,,,,,, +GARD:16784,Active,Orphanet,ORPHA:90030,Disorder,[Disease],Hemolytic anemia due to glutathione reductase deficiency,,Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.,"[618660, 618667]",,,,,,,, +GARD:16785,Active,Orphanet,ORPHA:90044,Disorder,[Disease],Familial pseudohyperkalemia,,"Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.",[609153],,,,,,,, +GARD:16786,Active,Orphanet,ORPHA:90103,Disorder,[Malformation syndrome],Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome,"[CMT-deafness-intellectual disability syndrome, Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome, Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers, Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers]","Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.",[214370],,,,,,,, +GARD:16787,Active,Orphanet,ORPHA:90120,Disorder,[Disease],Hereditary motor and sensory neuropathy type 6,"[CMT6, Charcot-Marie-Tooth disease type 6, HMSN 6, HMSN VI, Hereditary motor and sensory neuropathy type VI, Peripheral neuropathy and optic atrophy]","A rare axonal hereditary motor and sensory neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.","[616505, 601152]",,,,,,,, +GARD:16788,Active,Orphanet,ORPHA:90308,Disorder,[Disease],Klippel-Trénaunay syndrome,,,[149000],,,,,,,, +GARD:16789,Active,Orphanet,ORPHA:90368,Disorder,[Disease],Hypotrichosis simplex of the scalp,[Hereditary hypotrichosis simplex of the scalp],Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.,"[146520, 613981]",,,,,,,, +GARD:16790,Active,Orphanet,ORPHA:90625,Subtype of disorder,[Etiological subtype],X-linked non-syndromic sensorineural deafness type DFN,"[X-linked isolated neurosensory deafness type DFN, X-linked isolated neurosensory hearing loss type DFN, X-linked isolated sensorineural deafness type DFN, X-linked isolated sensorineural hearing loss type DFN, X-linked non-syndromic neurosensory deafness type DFN, X-linked non-syndromic neurosensory hearing loss type DFN, X-linked non-syndromic sensorineural hearing loss type DFN]",,"[300030, 300066, 300914, 304500]",,,,,,,, +GARD:16791,Active,Orphanet,ORPHA:90635,Subtype of disorder,[Etiological subtype],Autosomal dominant non-syndromic sensorineural deafness type DFNA,"[Autosomal dominant isolated neurosensory deafness type DFNA, Autosomal dominant isolated neurosensory hearing loss type DFNA, Autosomal dominant isolated sensorineural deafness type DFNA, Autosomal dominant isolated sensorineural hearing loss type DFNA, Autosomal dominant non-syndromic neurosensory deafness type DFNA, Autosomal dominant non-syndromic neurosensory hearing loss type DFNA, Autosomal dominant non-syndromic sensorineural hearing loss type DFNA]",,"[603964, 614614, 619274, 607841, 618410, 606346, 617606, 616357, 608372, 607683, 616969, 614152, 616707, 615649, 601543, 609965, 602459, 608645, 618787, 613074, 616697, 617663, 601316, 608641, 601868, 606282, 601412, 615654, 619081, 607017, 618094, 612643, 614211, 606705, 606451, 600652, 618140, 608652, 615629, 600994, 617605, 605583, 606012, 612431, 608394, 616968, 601317, 609129, 601369, 618915, 607453, 601544, 604717, 600965, 600101, 603622, 616044, 619086, 605192, 607197, 612642, 613558, 612644, 618778, 616340, 608224]",,,,,,,, +GARD:16792,Active,Orphanet,ORPHA:90641,Subtype of disorder,[Etiological subtype],Mitochondrial non-syndromic sensorineural deafness,"[Isolated mitochondrial neurosensory deafness, Isolated mitochondrial neurosensory hearing loss, Isolated mitochondrial sensorineural deafness, Isolated mitochondrial sensorineural hearing loss, Mitochondrial non-syndromic neurosensory deafness, Mitochondrial non-syndromic neurosensory hearing loss, Mitochondrial non-syndromic sensorineural hearing loss]",,"[221745, 304400, 500008, 580000]",,,,,,,, +GARD:16793,Active,Orphanet,ORPHA:90673,Disorder,[Disease],Hypothyroidism due to TSH receptor mutations,,"A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.",[275200],,,,,,,, +GARD:16794,Active,Orphanet,ORPHA:90796,Disorder,[Disease],"46,XY disorder of sex development due to isolated 17,20-lyase deficiency",,"46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.",[202110],,,,,,,, +GARD:16795,Active,Orphanet,ORPHA:91130,Disorder,[Disease],Cardiomyopathy-hypotonia-lactic acidosis syndrome,,"Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.",[610773],,,,,,,, +GARD:16796,Active,Orphanet,ORPHA:91135,Disorder,[Disease],Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,"[PXE-like syndrome, Pseudoxanthoma elasticum-like syndrome]",Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.,[610842],,,,,,,, +GARD:16797,Active,Orphanet,ORPHA:91396,Disorder,[Morphological anomaly],Isolated cryptophthalmia,,"Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.",[123570],,,,,,,, +GARD:16798,Active,Orphanet,ORPHA:91411,Disorder,[Disease],Congenital ptosis,,Congenital ptosis is characterized by superior eyelid drop present at birth.,"[178300, 300245, 616219]",,,,,,,, +GARD:16799,Active,Orphanet,ORPHA:91416,Disorder,[Disease],Isolated congenital alacrima,,Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.,"[103420, 601549]",,,,,,,, +GARD:1680,Active,Orphanet,ORPHA:1570,Disorder,[Malformation syndrome],Symbrachydactyly of hands and feet,[De Smet-Fabry-Fryns syndrome],"Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.",,,,,,Frints De Smet Fabry Fryns syndrome,TRUE,FALSE,Active +GARD:16800,Active,Orphanet,ORPHA:91490,Disorder,[Morphological anomaly],Isolated congenital sclerocornea,,"A rare corneal disorder characterized by non-inflammatory, non-progressive, bilateral ingrowth of vascularized, opaque scleral tissue into the peripheral cornea, obliterating the corneoscleral limbus and scleral sulcus. The condition is not associated with other ocular abnormalities.",[181700],,,,,,,, +GARD:16801,Active,Orphanet,ORPHA:91492,Disorder,[Disease],Early-onset non-syndromic cataract,,"A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.","[609741, 116200, 116700, 605387, 615274, 604219, 610425, 611391, 116600, 610019, 611544, 607304, 616509, 115665, 610202, 615188, 610623, 616279, 115660, 116800, 614422, 212500, 613763, 115800, 605749, 605728, 601547, 115700, 115650, 604307, 116100, 616851, 600881, 302200, 609376, 615277, 611597, 115900, 116400, 601202, 601885, 614691, 116300]",,,,,,,, +GARD:16802,Active,Orphanet,ORPHA:91494,Disorder,[Malformation syndrome],Macular coloboma-cleft palate-hallux valgus syndrome,,"Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.",[216800],,,,,,,, +GARD:16803,Active,Orphanet,ORPHA:91495,Disorder,[Disease],Persistent hyperplastic primary vitreous,"[Congenital retinal detachment, NCRNA disease, Non-syndromic congenital retinal non-attachment, PFVS, PHPV, Persistent fetal vasculature syndrome]","A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes.","[221900, 611308]",,,,,,,, +GARD:16804,Active,Orphanet,ORPHA:93100,Subtype of disorder,[Clinical subtype],"Renal agenesis, unilateral",,A form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.,[617805],,,,,,,, +GARD:16805,Active,Orphanet,ORPHA:93160,Disorder,[Disease],Hypocalcemic vitamin D-resistant rickets,"[HVDRR, Hereditary vitamin D-resistant rickets, VDDR II, VDRR II, Vitamin D-dependent rickets type II, Vitamin D-resistant rickets type II]","Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.","[600785, 277440, 619073]",,,,,,,, +GARD:16806,Active,Orphanet,ORPHA:93256,Disorder,[Malformation syndrome],Fragile X-associated tremor/ataxia syndrome,[FXTAS syndrome],Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.,[300623],,,,,,,, +GARD:16807,Active,Orphanet,ORPHA:93258,Subtype of disorder,[Clinical subtype],Pfeiffer syndrome type 1,[Classic Pfeiffer syndrome],,[101600],,,,,,,, +GARD:16808,Active,Orphanet,ORPHA:93259,Subtype of disorder,[Clinical subtype],Pfeiffer syndrome type 2,,,[101600],,,,,,,, +GARD:16809,Active,Orphanet,ORPHA:93260,Subtype of disorder,[Clinical subtype],Pfeiffer syndrome type 3,,,[101600],,,,,,,, +GARD:16810,Active,Orphanet,ORPHA:93262,Disorder,[Malformation syndrome],Crouzon syndrome-acanthosis nigricans syndrome,[Crouzon-dermoskeletal syndrome],"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).",[612247],,,,,,,, +GARD:16811,Active,Orphanet,ORPHA:93267,Disorder,[Malformation syndrome],Cloverleaf skull-multiple congenital anomalies syndrome,,"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.",[607161],,,,,,,, +GARD:16812,Active,Orphanet,ORPHA:93279,Disorder,[Disease],Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,,"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.",[604864],,,,,,,, +GARD:16813,Active,Orphanet,ORPHA:93282,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, PAPSS2 type","[Spondyloepimetaphyseal dysplasia, Pakistani type]","Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.",[612847],,,,,,,, +GARD:16814,Active,Orphanet,ORPHA:93283,Disorder,[Disease],"Spondyloepiphyseal dysplasia, Kimberley type",,"Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.",[608361],,,,,,,, +GARD:16815,Active,Orphanet,ORPHA:93297,Subtype of disorder,[Clinical subtype],Hypochondrogenesis,,,[200610],,,,,,,, +GARD:16816,Active,Orphanet,ORPHA:93302,Disorder,[Malformation syndrome],"Brachyolmia, Maroteaux type",[Brachyolmia type 2],"A rare genetic spondylodysplastic dysplasia characterized by short trunk/short stature, generalized platyspondyly with rounding of vertebral bodies. The vertebral bodies show less elongation compared to patients with other types of the disorder. Precocious calcification of the cerebral falx and non-specific minor facial anomalies may be associated. There have been no new reports since 1989.",[613678],,,,,,,, +GARD:16817,Active,Orphanet,ORPHA:93334,Disorder,[Morphological anomaly],Postaxial polydactyly type A,,"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies.","[608562, 615226, 263450, 618219, 174200, 602085, 618498, 607324]",,,,,,,, +GARD:16818,Active,Orphanet,ORPHA:93335,Disorder,[Morphological anomaly],Postaxial polydactyly type B,,"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral.",[174200],,,,,,,, +GARD:16819,Active,Orphanet,ORPHA:93351,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Irapa type","[SEMD, Irapa type]","Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.",[271650],,,,,,,, +GARD:16820,Active,Orphanet,ORPHA:93398,Disorder,[Disease],Genochondromatosis type 2,,"Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.",[137360],,,,,,,, +GARD:16821,Active,Orphanet,ORPHA:93409,Disorder,[Malformation syndrome],"Brachydactyly-syndactyly, Zhao type",,"Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.",[610713],,,,,,,, +GARD:16822,Active,Orphanet,ORPHA:93426,Group of disorders,[Category],Ciliopathies with major skeletal involvement,"[SRP, Short rib dysplasia]",,[617405],,,,,,,, +GARD:16823,Active,Orphanet,ORPHA:93581,Subtype of disorder,[Etiological subtype],Atypical hemolytic uremic syndrome with anti-factor H antibodies,"[Atypical HUS with anti-factor H antibodies, aHUS with anti-factor H antibodies, aHUS with neutralizing autoantibodies against factor H]",,[235400],,,,,,,, +GARD:16824,Active,Orphanet,ORPHA:93589,Subtype of disorder,[Clinical subtype],Late-onset nephronophthisis,,,"[617271, 613159, 604387]",,,,,,,, +GARD:16825,Active,Orphanet,ORPHA:93591,Subtype of disorder,[Clinical subtype],Infantile nephronophthisis,"[Autosomal recessive infantile NPHP, Autosomal recessive infantile nephronophthisis]","A rare clinical variant of hereditary nephronophthisis characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before 3 years of age.","[615382, 602088]",,,,,,,, +GARD:16826,Active,Orphanet,ORPHA:93607,Subtype of disorder,[Clinical subtype],Autosomal recessive proximal renal tubular acidosis,"[AR pRTA, Proximal renal tubular acidosis with ocular abnormalities and intellectual disability]","A rare autosomal recessive form of proximal renal tubular acidosis characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. Presentation is typically with hyperchloremic acidosis, usually occurring in childhood. Extrarenal manifestations include ocular abnormalities (band keratopathy, glaucoma, and cataracts), intellectual disability and severe growth retardation. Other features like dental enamel defects, basal ganglia calcification and pancreatitis are sometimes present.",[604278],,,,,,,, +GARD:16827,Active,Orphanet,ORPHA:93612,Subtype of disorder,[Etiological subtype],Cystinuria type A,,,[220100],,,,,,,, +GARD:16828,Active,Orphanet,ORPHA:93613,Subtype of disorder,[Etiological subtype],Cystinuria type B,,,[220100],,,,,,,, +GARD:16829,Active,Orphanet,ORPHA:93616,Subtype of disorder,[Clinical subtype],Hemoglobin H disease,"[Alpha-thalassemia intermedia, HbH disease]",An intermediate form of alpha-thalassemia characterized by increased hemolysis and mild to severe anemia with marked microcytosis and hypochromia. Hemoglobin H disease (HbH) disease belongs to the group of nontransfusion-dependent thalassemia.,[613978],,,,,,,, +GARD:16830,Active,Orphanet,ORPHA:93924,Subtype of disorder,[Clinical subtype],Lobar holoprosencephaly,,"A form of holoprosencephaly characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity only across the frontal neocortex, especially rostrally and ventrally. Craniofacial features are variable may include ocular hypotelorism, midline cleft lip (complete or partial) and/or flat nose amongst other features.","[609637, 610829, 157170]",,,,,,,, +GARD:16831,Active,Orphanet,ORPHA:93925,Subtype of disorder,[Clinical subtype],Alobar holoprosencephaly,,"A severe form of holoprosencephaly characterized by a single brain ventricle and no interhemispheric fissure. Severe craniofacial features may manifest as cyclopia, ethmocephaly or cebocephaly.","[609637, 301043, 610829, 157170]",,,,,,,, +GARD:16832,Active,Orphanet,ORPHA:93926,Subtype of disorder,[Clinical subtype],Midline interhemispheric variant of holoprosencephaly,"[MIH, MIH type HPE, MIHF, MIHV, Middle interhemispheric fusion variant, Middle interhemispheric variant of holoprosencephaly, Syntelencephaly]","Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.","[609637, 610829, 157170]",,,,,,,, +GARD:16833,Active,Orphanet,ORPHA:93940,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 3,"[LTEC III, LTEC3, Laryngo-tracheo-esophageal cleft type 3]","A congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.",[215800],,,,,,,, +GARD:16834,Active,Orphanet,ORPHA:93952,Disorder,[Disease],"X-linked intellectual disability, Hedera type",[MRXSH],"X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.",[300423],,,,,,,, +GARD:16835,Active,Orphanet,ORPHA:93976,Disorder,[Morphological anomaly],Anotia,,"A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.",[600674],,,,,,,, +GARD:16836,Active,Orphanet,ORPHA:94122,Disorder,[Disease],"Cerebellar ataxia, Cayman type",[Cayman ataxia],"A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.",[601238],,,,,,,, +GARD:16837,Active,Orphanet,ORPHA:94150,Subtype of disorder,[Clinical subtype],Anonychia congenita totalis,,,[206800],,,,,,,, +GARD:16838,Active,Orphanet,ORPHA:95232,Disorder,[Disease],Lissencephaly due to LIS1 mutation,[PAFAH1B1-related lissencephaly],"Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.",[607432],,,,,,,, +GARD:16839,Active,Orphanet,ORPHA:95700,Disorder,[Disease],Familial adrenal hypoplasia with absent pituitary luteinizing hormone,"[Familial adrenal hypoplasia with absent pituitary LH, Familial adrenal hypoplasia, miniature type]","Familial adrenal hypoplasia with absent pituitary luteinizing hormone is a rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.",[202150],,,,,,,, +GARD:1684,Active,Orphanet,ORPHA:3232,Disorder,[Malformation syndrome],Deafness-ear malformation-facial palsy syndrome,"[Hearing loss-ear malformation-facial palsy syndrome, Sellars-Beighton syndrome]",Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.,[124490],,,,,Deafness conductive stapedial ear malformation facial palsy,TRUE,FALSE,Active +GARD:16840,Active,Orphanet,ORPHA:95706,Disorder,[Morphological anomaly],Non-syndromic posterior hypospadias,"[Hypospadias, severe form, Perineal, scrotal or penoscrotal hypospadias]","A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis.","[300633, 146450, 300856, 300758]",,,,,,,, +GARD:16841,Active,Orphanet,ORPHA:95712,Disorder,[Morphological anomaly],Thyroid ectopia,,"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.","[225250, 218700]",,,,,,,, +GARD:16842,Active,Orphanet,ORPHA:95713,Disorder,[Morphological anomaly],Athyreosis,,"A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.","[225250, 218700]",,,,,,,, +GARD:16843,Active,Orphanet,ORPHA:95716,Disorder,[Disease],Familial thyroid dyshormonogenesis,[Thyroid dyshormonogenesis],"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.","[274800, 274900, 274700, 274500, 607200, 274400]",,,,,,,, +GARD:16844,Active,Orphanet,ORPHA:95719,Disorder,[Morphological anomaly],Thyroid hemiagenesis,,"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.",[218700],,,,,,,, +GARD:16845,Active,Orphanet,ORPHA:96125,Disorder,[Malformation syndrome],Distal monosomy 6p,"[6p subtelomeric deletion syndrome, 6p25 microdeletion syndrome, Distal deletion 6p, Monosomy 6p25]","Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.",[612582],,,,,,,, +GARD:16846,Active,Orphanet,ORPHA:96147,Subtype of disorder,[Etiological subtype],Kleefstra syndrome due to 9q34 microdeletion,"[9q subtelomeric deletion syndrome, 9qSTDS, Kleefstra syndrome due to 9q subtelomeric deletion, Kleefstra syndrome due to del(9)(q34), Kleefstra syndrome due to monosomy 9q34]",,[610253],,,,,,,, +GARD:16847,Active,Orphanet,ORPHA:96168,Disorder,[Malformation syndrome],Monosomy 13q34,"[Del(13)(q34), Distal deletion 13q34, Subtelomeric deletion 13q34]","Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.",[619148],,,,,,,, +GARD:16848,Active,Orphanet,ORPHA:96184,Subtype of disorder,[Etiological subtype],Temple syndrome due to maternal uniparental disomy of chromosome 14,[UPD(14)mat],"A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).",[616222],,,,,,,, +GARD:16849,Active,Orphanet,ORPHA:96186,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 20,"[Maternal UPD(20), UPD(20)mat]","Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.",[617352],,,,,,,, +GARD:1685,Active,Orphanet,ORPHA:79500,Disorder,[Malformation syndrome],DOORS syndrome,"[Autosomal recessive deafness-onychodystrophy syndrome, Autosomal recessive hearing loss-onychodystrophy syndrome, DOOR syndrome, Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome, Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome, Deafness-onychoosteodystrophy-intellectual disability syndrome, Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome, Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome, Hearing loss-onychoosteodystrophy-intellectual disability syndrome]","A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.",[220500],,,,,DOOR syndrome,TRUE,FALSE,Active +GARD:16850,Active,Orphanet,ORPHA:96256,Group of disorders,[Clinical group],Somatotropic adenoma,[Somatotropinoma],,[102200],,,,,,,, +GARD:16851,Active,Orphanet,ORPHA:96265,Subtype of disorder,[Clinical subtype],Leydig cell hypoplasia due to complete LH resistance,"[46,XY DSD due to complete LH receptor inactivation, 46,XY DSD due to complete LH resistance, 46,XY DSD due to complete luteinizing hormone receptor inactivation, 46,XY DSD due to complete luteinizing hormone resistance, 46,XY disorder of sex development due to complete LH receptor inactivation, 46,XY disorder of sex development due to complete LH resistance, 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation, 46,XY disorder of sex development due to complete luteinizing hormone resistance, Leydig cell hypoplasia due to complete LH receptor inactivation, Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation, Leydig cell hypoplasia due to complete luteinizing hormone resistance]",,[238320],,,,,,,, +GARD:16852,Active,Orphanet,ORPHA:96266,Subtype of disorder,[Clinical subtype],Leydig cell hypoplasia due to partial LH resistance,"[46,XY DSD due to partial LH receptor inactivation, 46,XY DSD due to partial LH resistance, 46,XY DSD due to partial luteinizing hormone resistance, 46,XY disorder of sex developement due to partial LH receptor inactivation, 46,XY disorder of sex developement due to partial LH resistance, 46,XY disorder of sex developement due to partial luteinizing hormone resistance, Leydig cell hypoplasia due to partial LH receptor inactivation, Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation, Leydig cell hypoplasia due to partial luteinizing hormone resistance]",,[238320],,,,,,,, +GARD:16853,Active,Orphanet,ORPHA:97290,Disorder,[Disease],Familial papillary thyroid carcinoma with renal papillary neoplasia,[PTC-RCC],An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group.,[605642],,,,,,,, +GARD:16854,Active,Orphanet,ORPHA:97369,Subtype of disorder,[Etiological subtype],Renal tubular dysgenesis of genetic origin,,,[267430],,,,,,,, +GARD:16855,Active,Orphanet,ORPHA:98291,Group of disorders,[Category],Lymphoproliferative disease associated with primary immune disease,,,[619126],,,,,,,, +GARD:16856,Active,Orphanet,ORPHA:98434,Disorder,[Disease],Hereditary combined deficiency of vitamin K-dependent clotting factors,"[Hereditary combined deficiency of factors II, VII, IX and X]","Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.","[277450, 607473]",,,,,,,, +GARD:16857,Active,Orphanet,ORPHA:98553,Group of disorders,[Category],Developmental defect of the eye,,,"[216820, 120200]",,,,,,,, +GARD:16858,Active,Orphanet,ORPHA:98606,Disorder,[Malformation syndrome],Syndromic orbital border hypoplasia,[Urrets-Zavalia syndrome],"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.",[165600],,,,,,,, +GARD:16859,Active,Orphanet,ORPHA:98619,Disorder,[Disease],Rare isolated myopia,,"Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.","[608908, 615431, 614292]",,,,,,,, +GARD:1686,Active,Orphanet,ORPHA:3241,Disorder,[Malformation syndrome],Deafness-craniofacial syndrome,[Hearing loss-craniofacial syndrome],"Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.",[125230],,,,,Deafness craniofacial syndrome,TRUE,FALSE,Active +GARD:16860,Active,Orphanet,ORPHA:98676,Disorder,[Disease],Autosomal recessive isolated optic atrophy,[Autosomal recessive non-syndromic optic atrophy],"A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.","[617302, 258500, 616289, 616732]",,,,,,,, +GARD:16861,Active,Orphanet,ORPHA:98754,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,[UPD(15)mat],,[176270],,,,,,,, +GARD:16862,Active,Orphanet,ORPHA:98791,Disorder,[Malformation syndrome],Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,"[ATR syndrome linked to chromosome 16, ATR syndrome, deletion type, ATR-16 syndrome, Alpha thalassemia-intellectual disability syndrome, deletion type]","A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.",[141750],,,,,,,, +GARD:16863,Active,Orphanet,ORPHA:98835,Disorder,[Disease],Acute undifferentiated leukemia,"[Acute myeloid leukemia, minimal differentiation, FAB M0]","A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).",[601626],,,,,,,, +GARD:16864,Active,Orphanet,ORPHA:98852,Disorder,[Disease],Desquamative interstitial pneumonia,,"A rare idiopathic interstitial pneumonia characterized by extensive, diffuse intra-alveolar accumulation of pigment-laden macrophages, most commonly associated with long-term exposure to tobacco smoke. Patients present with slowly progressive shortness of breath on exertion and chronic cough with bilateral crackles. Digital clubbing is also frequently observed. Pulmonary function test reveals a restrictive pattern. Computed tomography typically shows diffuse ground-glass opacities with subpleural and lower zone predominance.",[263000],,,,,,,, +GARD:16865,Active,Orphanet,ORPHA:98853,Subtype of disorder,[Etiological subtype],Autosomal dominant Emery-Dreifuss muscular dystrophy,[EDMD2],,"[612998, 612999, 181350, 614302]",,,,,,,, +GARD:16866,Active,Orphanet,ORPHA:98855,Subtype of disorder,[Etiological subtype],Autosomal recessive Emery-Dreifuss muscular dystrophy,[EDMD3],,[616516],,,,,,,, +GARD:16867,Active,Orphanet,ORPHA:98868,Disorder,[Disease],Southeast Asian ovalocytosis,"[Hereditary ovalocytosis, Melanesian elliptocytosis, Melanesian ovalocytosis, SAO, Stomatocytic elliptocytosis]","Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.",[166900],,,,,,,, +GARD:16868,Active,Orphanet,ORPHA:98886,Subtype of disorder,[Etiological subtype],Bleeding diathesis due to integrin alpha2-beta1 deficiency,,,[614200],,,,,,,, +GARD:16869,Active,Orphanet,ORPHA:98904,Disorder,[Disease],Congenital myopathy with excess of thin filaments,[Actin myopathy],"A rare, genetic, congenital myopathy disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia, lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy.",[161800],,,,,,,, +GARD:1687,Active,Orphanet,ORPHA:3220,Disorder,[Malformation syndrome],Deafness-enamel hypoplasia-nail defects syndrome,"[Hearing loss-enamel hypoplasia-nail defects syndrome, Heimler syndrome]","A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.","[616617, 234580]",,,,,Deafness enamel hypoplasia nail defects,TRUE,FALSE,Active +GARD:16870,Active,Orphanet,ORPHA:98909,Disorder,[Disease],Desminopathy,[Desmin-related myofibrillar myopathy],"A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure.",[601419],,,,,,,, +GARD:16871,Active,Orphanet,ORPHA:98911,Disorder,[Disease],Distal myotilinopathy,,"A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.",[609200],,,,,,,, +GARD:16872,Active,Orphanet,ORPHA:98915,Subtype of disorder,[Etiological subtype],Synaptic congenital myasthenic syndromes,,,[603034],,,,,,,, +GARD:16873,Active,Orphanet,ORPHA:98916,Disorder,[Disease],Acute inflammatory demyelinating polyradiculoneuropathy,"[AIDP, Acute idiopathic demyelinating polyneuropathy, Acute inflammatory polyneuropathy, GBS, acute inflammatory demyelinating polyradiculoneuropathic form, Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form]",A rare inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS).,[139393],,,,,,,, +GARD:16874,Active,Orphanet,ORPHA:98934,Disorder,[Disease],Huntington disease-like 2,[HDL2],"A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia).",[606438],,,,,,,, +GARD:16875,Active,Orphanet,ORPHA:98942,Disorder,[Morphological anomaly],Coloboma of choroid and retina,,"Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.",[120200],,,,,,,, +GARD:16876,Active,Orphanet,ORPHA:98949,Subtype of disorder,[Clinical subtype],Complete cryptophthalmia,,,[123570],,,,,,,, +GARD:16877,Active,Orphanet,ORPHA:98955,Disorder,[Disease],Lisch epithelial corneal dystrophy,"[Band-shaped and whorled microcystic dystrophy of the corneal epithelium, LECD]","Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.",[300778],,,,,,,, +GARD:16878,Active,Orphanet,ORPHA:98959,Disorder,[Disease],Subepithelial mucinous corneal dystrophy,[SMCD],"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.",[612867],,,,,,,, +GARD:16879,Active,Orphanet,ORPHA:98970,Disorder,[Disease],Fleck corneal dystrophy,"[FCD, François-Neetens speckled corneal dystrophy]","Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.",[121850],,,,,,,, +GARD:1688,Active,Orphanet,ORPHA:3218,Disorder,[Malformation syndrome],Deafness-epiphyseal dysplasia-short stature syndrome,"[Chitty-Hall-Baraitser syndrome, Hearing loss-epiphyseal dysplasia-short stature syndrome]","A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.",[601351],,,,,"Deafness, epiphyseal dysplasia, short stature",TRUE,FALSE,Active +GARD:16880,Active,Orphanet,ORPHA:98971,Disorder,[Disease],Posterior amorphous corneal dystrophy,"[PACD, Posterior amorphous stromal dystrophy]",Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.,[612868],,,,,,,, +GARD:16881,Active,Orphanet,ORPHA:98972,Disorder,[Disease],Central cloudy dystrophy of François,"[CCDF, Central cloudy corneal dystrophy of François]","Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.",[217600],,,,,,,, +GARD:16882,Active,Orphanet,ORPHA:98973,Disorder,[Disease],Posterior polymorphous corneal dystrophy,"[PPCD, Posterior polymorphous dystrophy, Schlichting dystrophy]","A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.","[618031, 609140, 122000, 609141]",,,,,,,, +GARD:16883,Active,Orphanet,ORPHA:98977,Disorder,[Disease],Juvenile glaucoma,,"A primary early-onset glaucoma that is characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.","[611274, 137750, 231300, 608695, 610535, 608696]",,,,,,,, +GARD:16884,Active,Orphanet,ORPHA:98984,Subtype of disorder,[Clinical subtype],Pulverulent cataract,"[Coppock-like cataract, Dusty cataract]",,[116300],,,,,,,, +GARD:16885,Active,Orphanet,ORPHA:98985,Subtype of disorder,[Clinical subtype],Early-onset sutural cataract,[Early-onset cataract with Y-shaped suture opacities],,"[605728, 116100, 600881]",,,,,,,, +GARD:16886,Active,Orphanet,ORPHA:98990,Subtype of disorder,[Clinical subtype],Coralliform cataract,,,[115800],,,,,,,, +GARD:16887,Active,Orphanet,ORPHA:98991,Subtype of disorder,[Clinical subtype],Early-onset nuclear cataract,,,"[609376, 116400, 611391, 610019, 607304, 600881]",,,,,,,, +GARD:16888,Active,Orphanet,ORPHA:98992,Subtype of disorder,[Clinical subtype],Early-onset partial cataract,,,"[613763, 609376, 115800, 605728, 115660, 116400, 601202, 610019, 607304, 614422, 116300]",,,,,,,, +GARD:16889,Active,Orphanet,ORPHA:98993,Subtype of disorder,[Clinical subtype],Early-onset posterior polar cataract,,,"[613763, 600881]",,,,,,,, +GARD:1689,Legacy,GARD,,,,,,,,,,,,Deafness goiter stippled epiphyses,TRUE,FALSE,Active +GARD:16890,Active,Orphanet,ORPHA:99001,Disorder,[Disease],Butterfly-shaped pigment dystrophy,"[Butterfly-shaped pattern dystrophy, Butterfly-shaped pigmentary macular dystrophy]",A rare patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.,"[169150, 608970, 610125]",,,,,,,, +GARD:16891,Active,Orphanet,ORPHA:99002,Disorder,[Disease],Reticular dystrophy of the retinal pigment epithelium,,"A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.","[267800, 179840, 617175]",,,,,,,, +GARD:16892,Active,Orphanet,ORPHA:99051,Subtype of disorder,[Clinical subtype],Discrete fixed membranous subaortic stenosis,,,[271950],,,,,,,, +GARD:16893,Active,Orphanet,ORPHA:99067,Subtype of disorder,[Clinical subtype],Complete atrioventricular septal defect with ventricular hypoplasia,"[CAVC with ventricular hypoplasia, Complete AVSD with ventricular hypoplasia, Complete atrioventricular canal defect with ventricular hypoplasia, Complete atrioventricular septal defect with ventricular imbalance, Unbalanced complete atrioventricular canal]",,[615779],,,,,,,, +GARD:16894,Active,Orphanet,ORPHA:99068,Subtype of disorder,[Clinical subtype],Complete atrioventricular septal defect-tetralogy of Fallot,"[CAVC-tetralogy of Fallot, Complete AVSD-tetralogy of Fallot, Complete atrioventricular canal defect-tetralogy of Fallot]",,[615779],,,,,,,, +GARD:16895,Active,Orphanet,ORPHA:99092,Disorder,[Morphological anomaly],Interventricular septum aneurysm,,"Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.",[105805],,,,,,,, +GARD:16896,Active,Orphanet,ORPHA:99125,Disorder,[Morphological anomaly],Congenital total pulmonary venous return anomaly,,"A form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.",[106700],,,,,,,, +GARD:16897,Active,Orphanet,ORPHA:99135,Disorder,[Disease],6-phosphogluconate dehydrogenase deficiency,,"A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.",[619199],,,,,,,, +GARD:16898,Active,Orphanet,ORPHA:99141,Disorder,[Malformation syndrome],Lymphedema-posterior choanal atresia syndrome,,"A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.",[613611],,,,,,,, +GARD:16899,Active,Orphanet,ORPHA:99177,Disorder,[Morphological anomaly],Isolated distichiasis,,"Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated.",[126300],,,,,,,, +GARD:169,Active,Orphanet,ORPHA:3144,Disorder,[Malformation syndrome],Schneckenbecken dysplasia,"[Chondrodysplasia with snail-like pelvis, SLC35D1-CDG]",Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.,[269250],,,,,Schneckenbecken dysplasia,TRUE,FALSE,Active +GARD:1690,Legacy,GARD,,,,,,,,,,,,Deafness hyperuricemia neurologic ataxia,TRUE,FALSE,Retired +GARD:16900,Active,Orphanet,ORPHA:99179,Disorder,[Malformation syndrome],Kandori fleck retina,,"Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.",[228990],,,,,,,, +GARD:16901,Active,Orphanet,ORPHA:99361,Disorder,[Disease],Familial medullary thyroid carcinoma,[Familial MTC],,[155240],,,,,,,, +GARD:16902,Active,Orphanet,ORPHA:99646,Disorder,[Disease],Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,,"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.",[614875],,,,,,,, +GARD:16903,Active,Orphanet,ORPHA:99672,Disorder,[Malformation syndrome],Fried's tooth and nail syndrome,,"A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement.",[602401],,,,,,,, +GARD:16904,Active,Orphanet,ORPHA:99734,Disorder,[Disease],Myotonia fluctuans,"[Exercise-induced delayed-onset myotonia, Fluctuating myotonia]","A form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.",[608390],,,,,,,, +GARD:16905,Active,Orphanet,ORPHA:99735,Disorder,[Disease],Myotonia permanens,,"A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).",[608390],,,,,,,, +GARD:16906,Active,Orphanet,ORPHA:99736,Disorder,[Disease],Acetazolamide-responsive myotonia,"[ACZ-responsive congenital myotonia, ACZ-responsive myotonia, Acetazolamide-responsive congenital myotonia, Myotonia-painful contractions syndrome, Painful congenital myotonia, Painful myotonia]",A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).,[608390],,,,,,,, +GARD:16907,Active,Orphanet,ORPHA:99772,Disorder,[Morphological anomaly],Cleft velum,"[Cleft soft palate, Cleft velum palatinum]",Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.,[119570],,,,,,,, +GARD:16908,Active,Orphanet,ORPHA:99798,Disorder,[Morphological anomaly],Oligodontia,[Selective tooth agenesis],Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.,"[106600, 610926, 604625, 150400, 313500, 616724, 617073]",,,,,,,, +GARD:16909,Active,Orphanet,ORPHA:99803,Disorder,[Malformation syndrome],Haddad syndrome,"[Congenital central alveolar hypoventilation-Hirschsprung disease syndrome, Ondine-Hirschsprung disease, Ondine-Hirschsprung syndrome]","Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).",[209880],,,,,,,, +GARD:1691,Active,Orphanet,ORPHA:90646,Disorder,[Malformation syndrome],Deafness-hypogonadism syndrome,[Hearing loss-hypogonadism syndrome],"This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3; see this term), hypogonadism and abnormal behavior.",[304350],,,,,Deafness hypogonadism syndrome,TRUE,FALSE,Active +GARD:16910,Active,Orphanet,ORPHA:99806,Disorder,[Malformation syndrome],Oculootodental syndrome,[OOD],"A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.",[166750],,,,,,,, +GARD:16911,Active,Orphanet,ORPHA:99807,Disorder,[Disease],PEHO-like syndrome,,"PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.","[260565, 617507]",,,,,,,, +GARD:16912,Active,Orphanet,ORPHA:99818,Subtype of disorder,[Clinical subtype],Turcot syndrome with polyposis,,"Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.",[175100],,,,,,,, +GARD:16913,Active,Orphanet,ORPHA:99819,Disorder,[Disease],Familial gestational hyperthyroidism,,"A rare genetic hyperthyroidism characterized by hyperemesis gravidarum associated with hyperthyroidism due to hypersensitivity of the thyrotropin receptor to chorionic gonadotropin, in the absence of abnormally high serum chorionic gonadotropin levels. Clinical manifestations include severe nausea, vomiting, weight loss, tachycardia, excessive sweating, and hand tremor, but no signs of ophthalmopathy.",[603373],,,,,,,, +GARD:16914,Active,Orphanet,ORPHA:99832,Disorder,[Disease],Resistance to thyrotropin-releasing hormone syndrome,"[Central hypothyroidism due to TRH receptor deficiency, TRH resistance syndrome]",Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.,[618573],,,,,,,, +GARD:16915,Active,Orphanet,ORPHA:99844,Subtype of disorder,[Clinical subtype],Leukocyte adhesion deficiency type III,"[LAD-1 variant, LAD-III, Leukocyte adhesion deficiency-1 variant]",Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.,[612840],,,,,,,, +GARD:16916,Active,Orphanet,ORPHA:99845,Disorder,[Disease],Genetic recurrent myoglobinuria,,Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.,"[550500, 268200]",,,,,,,, +GARD:16917,Active,Orphanet,ORPHA:99846,Disorder,[Disease],Autosomal dominant myoglobinuria,,"A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.",[160010],,,,,,,, +GARD:16918,Active,Orphanet,ORPHA:99853,Subtype of disorder,[Clinical subtype],Ovarioleukodystrophy,,,"[603896, 615889]",,,,,,,, +GARD:16919,Active,Orphanet,ORPHA:99854,Subtype of disorder,[Clinical subtype],Cree leukoencephalopathy,,,[603896],,,,,,,, +GARD:1692,Legacy,GARD,,,,,,,,,,,,Deafness hypospadias metacarpal and metatarsal syndrome,TRUE,FALSE,Active +GARD:16920,Active,Orphanet,ORPHA:99860,Disorder,[Disease],Precursor B-cell acute lymphoblastic leukemia,"[B-ALL, Precursor B-cell acute lymphoblastic leukemia/lymphoma, Precursor B-cell acute lymphocytic leukemia, Precursor B-cell acute lymphocytic leukemia/lymphoma]","A rare acute lymphoblastic leukemia characterized by infiltration of bone marrow and peripheral blood by small to medium-sized blast cells typically positive for the B-cell markers CD19, cCD79a, and cCD22. Predilection sites for extramedullary involvement are the central nervous system, lymph nodes, spleen, liver, and testes. Patients present with evidence of bone marrow failure (i. e. thrombocytopenia, anemia, and/or neutropenia) and variable leukocyte count, as well as lymphadenopathy, hepatomegaly, splenomegaly, bone pain, and arthralgias.",[615545],,,,,,,, +GARD:16921,Active,Orphanet,ORPHA:99865,Disorder,[Disease],Spermatocytic seminoma,,Spermatocytic seminoma (SS) is an extremely rare form of testicular cancer distinguished from testicular seminomatous germ cell tumors (see this term) by a very low rate of metastasis and lack of an ovarian equivalent.,[273300],,,,,,,, +GARD:16922,Active,Orphanet,ORPHA:99867,Disorder,[Disease],Thymoma,"[Primary thymic epithelial neoplasm, Primary thymic epithelial tumor]","Thymoma is a thymic epithelial neoplasm (TEN; see this term), a rare malignancy that arises from the epithelium of the thymic gland.",[274230],,,,,,,, +GARD:16923,Active,Orphanet,ORPHA:99879,Disorder,[Disease],Familial isolated hyperparathyroidism,[FIHPT],"A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations.","[617343, 618883, 145000, 600166, 610071]",,,,,,,, +GARD:16924,Active,Orphanet,ORPHA:99908,Disorder,[Disease],Pigeon-breeder lung disease,[Bird fancier lung],"Pigeon-breeder's lung disease, also called bird fancier’s lung, is a hypersensitivity pneumonitis (see this term) induced by inhalation of bird derived-proteins. Presentation can be acute with chills, cough, fever, shortness of breath, chest tightness usually resolving within 24 h after cessation of antigen exposure, sub-acute with cough and dyspnea over several days to weeks, whereas chronic form results in breathlessness, coughing, lack of appetite and weight loss.",[145300],,,,,,,, +GARD:16925,Active,Orphanet,ORPHA:99947,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2A2,[CMT2A2],"A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.",[609260],,,,,,,, +GARD:16926,Active,Orphanet,ORPHA:99966,Subtype of disorder,[Clinical subtype],Atypical teratoid rhabdoid tumor,[ATRT],"A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.",[609322],,,,,,,, +GARD:16927,Active,Orphanet,ORPHA:99976,Disorder,[Disease],Adenocarcinoma of the esophagus,[Esophageal adenocarcinoma],Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.,[614266],,,,,,,, +GARD:16928,Active,Orphanet,ORPHA:99995,Subtype of disorder,[Clinical subtype],Complex regional pain syndrome type 1,"[Algodystrophy, Reflex sympathetic dystrophy]","Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome (see this term) in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.",[604335],,,,,,,, +GARD:16929,Active,Orphanet,ORPHA:100006,Subtype of disorder,[Clinical subtype],"ABeta amyloidosis, Dutch type","[ABetaE22Q amyloidosis, HCHWA, Dutch type, HCHWA-D, Hereditary cerebral hemorrhage with amyloidosis, Dutch type]","Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.",[605714],,,,,,,, +GARD:1693,Legacy,GARD,,,,,,,,,,,,Deafness mesenteric diverticula of small bowel neuropathy,TRUE,FALSE,Active +GARD:16930,Active,Orphanet,ORPHA:100008,Subtype of disorder,[Clinical subtype],ACys amyloidosis,"[CST3-related amyloidosis, Cystatin amyloidosis, HCHWA, Icelandic type, Hereditary cerebral hemorrhage with amyloidosis, Icelandic type, Hereditary cystatin C amyloid angiopathy]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the CST3 gene (20p11.2), encoding the precursor protein cystatin C.",[105150],,,,,,,, +GARD:16931,Active,Orphanet,ORPHA:100032,Subtype of disorder,[Clinical subtype],Hypocalcified amelogenesis imperfecta,[Amelogenesis imperfecta type 3],,"[616221, 617607, 130900]",,,,,,,, +GARD:16932,Active,Orphanet,ORPHA:100034,Subtype of disorder,[Clinical subtype],Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,[Amelogenesis imperfecta type 4],,[104510],,,,,,,, +GARD:16933,Active,Orphanet,ORPHA:100050,Subtype of disorder,[Etiological subtype],Hereditary angioedema type 1,"[HAE 1, HAE-I, Hereditary angioneurotic edema type 1]","A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",[106100],,,,,,,, +GARD:16934,Active,Orphanet,ORPHA:100051,Subtype of disorder,[Etiological subtype],Hereditary angioedema type 2,"[HAE 2, HAE-II, Hereditary angioneurotic edema type 2]","Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",[106100],,,,,,,, +GARD:16935,Active,Orphanet,ORPHA:100054,Subtype of disorder,[Clinical subtype],F12-related hereditary angioedema with normal C1Inh,"[F12-related HAE with normal C1 inhibitor, HAE 3, HAE-III, Hereditary angioedema type 3, Hereditary angioneurotic edema type 3, Inherited estrogen-associated angioedema, Inherited estrogen-associated angioneurotic edema, Inherited estrogen-dependent angioedema, Inherited estrogen-dependent angioneurotic edema]","Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",[610618],,,,,,,, +GARD:16936,Active,Orphanet,ORPHA:100057,Disorder,[Disease],Renin-angiotensin-aldosterone system-blocker-induced angioedema,"[ACE inhibitor-related acquired angioedema, ACEI-related acquired angioedema, Acquired angioedema with normal C1 inhibitor, Acquired angioedema with normal C1INH, RAAS-blocker-induced angioedema, RAAS-blocker-induced angioneurotic edema, RAE, Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema]","Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",[300909],,,,,,,, +GARD:16937,Active,Orphanet,ORPHA:100924,Disorder,[Disease],Porphyria due to ALA dehydratase deficiency,"[ALAD porphyria, Porphyria due to ALAD deficiency, Porphyria due to delta-aminolevulinate dehydratase deficiency, Porphyria of Doss]",Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.,[612740],,,,,,,, +GARD:16938,Active,Orphanet,ORPHA:100976,Disorder,[Disease],Bathing suit ichthyosis,[BSI],Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.,[242300],,,,,,,, +GARD:16939,Active,Orphanet,ORPHA:101001,Disorder,[Disease],Autosomal recessive spastic paraplegia type 21,"[Mast syndrome, SPG21]","Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.",[248900],,,,,,,, +GARD:1694,Legacy,GARD,,,,,,,,,,,,"Deafness mixed with perilymphatic Gusher, X-linked",TRUE,FALSE,Active +GARD:16940,Active,Orphanet,ORPHA:101007,Disorder,[Disease],Autosomal recessive spastic paraplegia type 27,[SPG27],"Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.",[609041],,,,,,,, +GARD:16941,Active,Orphanet,ORPHA:101008,Disorder,[Disease],Autosomal recessive spastic paraplegia type 28,[SPG28],"Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.",[609340],,,,,,,, +GARD:16942,Active,Orphanet,ORPHA:101010,Disorder,[Disease],Autosomal spastic paraplegia type 30,[SPG30],"A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.",[610357],,,,,,,, +GARD:16943,Active,Orphanet,ORPHA:101068,Disorder,[Disease],Congenital stromal corneal dystrophy,"[CSCD, Congenital hereditary stromal dystrophy, Witschel dystrophy]","Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.",[610048],,,,,,,, +GARD:16944,Active,Orphanet,ORPHA:101351,Disorder,[Morphological anomaly],Familial isolated congenital asplenia,,"Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.",[271400],,,,,,,, +GARD:16945,Active,Orphanet,ORPHA:103908,Disorder,[Disease],Congenital sodium diarrhea,"[Na-H exchange deficiency, Non-syndromic congenital sodium diarrhea]","A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.","[270420, 616868]",,,,,,,, +GARD:16946,Active,Orphanet,ORPHA:103918,Disorder,[Disease],Tropical pancreatitis,"[TCP, Tropical calcific chronic pancreatitis]","A rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.",[608189],,,,,,,, +GARD:16947,Active,Orphanet,ORPHA:137631,Disorder,[Disease],"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.",[611926],,,,,,,, +GARD:16948,Active,Orphanet,ORPHA:137639,Subtype of disorder,[Clinical subtype],Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,[Ataxia-delayed dentition-hypomyelination syndrome],,[607694],,,,,,,, +GARD:16949,Active,Orphanet,ORPHA:137681,Disorder,[Disease],Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,[Hepatoencephalopathy due to COXPD1],"A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.",[609060],,,,,,,, +GARD:1695,Active,Orphanet,ORPHA:2408,Disorder,[Malformation syndrome],Lowe-Kohn-Cohen syndrome,"[Deafness-nephritis-ano-rectal malformation syndrome, Hearing loss-nephritis-ano-rectal malformation syndrome]","Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.",,,,,,Deafness nephritis anorectal malformation,TRUE,FALSE,Active +GARD:16950,Active,Orphanet,ORPHA:137908,Disorder,[Disease],Hypotonia with lactic acidemia and hyperammonemia,"[COXPD5, Combined oxidative phosphorylation defect type 5]","This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.",[611719],,,,,,,, +GARD:16951,Active,Orphanet,ORPHA:137914,Disorder,[Morphological anomaly],Choanal atresia,,"Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.",[608911],,,,,,,, +GARD:16952,Active,Orphanet,ORPHA:139474,Disorder,[Malformation syndrome],17q11.2 microduplication syndrome,"[Dup(17)(q11.2), Grisart-Destrée syndrome, Trisomy 17q11.2]",17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.,[618874],,,,,,,, +GARD:16953,Active,Orphanet,ORPHA:139518,Disorder,[Disease],Distal hereditary motor neuropathy type 1,"[Autosomal dominant distal juvenile spinal muscular atrophy type 1, dHMN1]","Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.",[182960],,,,,,,, +GARD:16954,Active,Orphanet,ORPHA:139525,Disorder,[Disease],Distal hereditary motor neuropathy type 2,"[Distal spinal muscular atrophy type 2, dHMN2, dSMA2]","A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.","[615575, 158590, 613376, 608634]",,,,,,,, +GARD:16955,Active,Orphanet,ORPHA:139536,Disorder,[Disease],Distal hereditary motor neuropathy type 5,"[Distal HMN V, Distal hereditary motor neuropathy type V, Distal spinal muscular atrophy type 5, dHMN5]","A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.","[614751, 600794, 619112]",,,,,,,, +GARD:16956,Active,Orphanet,ORPHA:139547,Disorder,[Disease],Distal spinal muscular atrophy type 3,"[Autosomal recessive distal spinal muscular atrophy type 3, Distal hereditary motor neuropathy type 3 and type 4, dHMN3 and dHMN4, dSMA3]","Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.",[607088],,,,,,,, +GARD:16957,Active,Orphanet,ORPHA:139557,Disorder,[Disease],X-linked distal spinal muscular atrophy type 3,"[ATP7A-related distal motor neuropathy, DSMAX, SMAX3, X-linked dHMN3, X-linked dSMA3, X-linked distal hereditary motor neuropathy type 3]","X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.",[300489],,,,,,,, +GARD:16958,Active,Orphanet,ORPHA:139564,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 1B,"[HSAN with cough and gastroesophageal reflux, HSAN1B, Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux, Hereditary sensory and autonomic neuropathy type IB]","Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).",[608088],,,,,,,, +GARD:16959,Active,Orphanet,ORPHA:139578,Disorder,[Disease],Mutilating hereditary sensory neuropathy with spastic paraplegia,[Mutilating HSAN with spastic paraplegia],This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.,[256840],,,,,,,, +GARD:1696,Active,Orphanet,ORPHA:231679,Subtype of disorder,[Clinical subtype],Isolated growth hormone deficiency type II,"[Congenital IGHD type II, Congenital isolated GH deficiency type II, Congenital isolated growth hormone deficiency type II]",,[173100],,,,,Isolated growth hormone deficiency type 2,TRUE,FALSE,Active +GARD:16960,Active,Orphanet,ORPHA:139589,Disorder,[Disease],Distal hereditary motor neuropathy type 7,"[Distal spinal muscular atrophy with vocal cord paralysis, dHMN7]","A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.","[158580, 607641]",,,,,,,, +GARD:16961,Active,Orphanet,ORPHA:140436,Disorder,[Disease],Primary intraosseous venous malformation,"[Intraosseous hemangioma, Osseous venous malformation]","Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.",[606893],,,,,,,, +GARD:16962,Active,Orphanet,ORPHA:140481,Disorder,[Disease],Autosomal dominant slowed nerve conduction velocity,,"A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.",[608236],,,,,,,, +GARD:16963,Active,Orphanet,ORPHA:140908,Subtype of disorder,[Clinical subtype],Brachydactyly type B2,,"A clinical subtype of brachydactyly type B characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.",[611377],,,,,,,, +GARD:16964,Active,Orphanet,ORPHA:140941,Disorder,[Disease],Short stature due to primary acid-labile subunit deficiency,,"Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.",[615961],,,,,,,, +GARD:16965,Active,Orphanet,ORPHA:140957,Disorder,[Disease],Autosomal dominant macrothrombocytopenia,,This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.,"[615193, 619271, 613112, 187800]",,,,,,,, +GARD:16966,Active,Orphanet,ORPHA:140963,Disorder,[Malformation syndrome],Bilateral microtia-deafness-cleft palate syndrome,[Bilateral microtia-hearing loss-cleft palate syndrome],"A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.",[612290],,,,,,,, +GARD:16967,Active,Orphanet,ORPHA:140966,Disorder,[Disease],"Palmoplantar keratoderma, Nagashima type","[PPK, Nagashima type, Palmoplantar hyperkeratosis, Nagashima type]","A rare autosomal recessive, isolated diffuse palmoplantar keratoderma charactized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.",[615598],,,,,,,, +GARD:16968,Active,Orphanet,ORPHA:141022,Disorder,[Morphological anomaly],Second branchial cleft anomaly,"[Second branchial cleft cyst, Second branchial cleft fistula]","A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occuring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia.",[113600],,,,,,,, +GARD:16969,Active,Orphanet,ORPHA:141074,Disorder,[Morphological anomaly],External auditory canal aplasia/hypoplasia,[External auditory canal stenosis/atresia],"A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma.","[108760, 607842]",,,,,,,, +GARD:1697,Active,Orphanet+OMIM,OMIM:220290,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 1a",,,[220290],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,DFNB1,TRUE,FALSE,Active +GARD:16970,Active,Orphanet,ORPHA:141103,Disorder,[Morphological anomaly],Nasal dermoid cyst,[Nasal dermoid sinus cyst],"A rare otorhinolaryngological malformation characterized by a dermoid cyst along the nasal dorsum or glabella, lined by keratinized squamous epithelium and containing intraluminal keratin and mature adnexal structures, such as hair follicles, sebaceous and sweat glands. The majority of nasal dermoid cysts are superficial, rarely they extend intracranially. The cysts are typically benign but are susceptible to recurrent infections that may progress to osteomyelitis, meningitis or an intracranial abscess.",[600679],,,,,,,, +GARD:16971,Active,Orphanet,ORPHA:141145,Disorder,[Malformation syndrome],Hemifacial hyperplasia,[Hemifacial hypertrophy],"Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.",[133900],,,,,,,, +GARD:16972,Active,Orphanet,ORPHA:141152,Disorder,[Morphological anomaly],Isolated congenital hypoglossia/aglossia,,"A rare head and neck malformation characterized by congenital partial (hypoglossia) or total (aglossia) absence of the tongue. Patients present feeding and respiratory difficulties, as well as delayed speech development and slurred speech. Taste perception is not severely compromised. Associated features include a characteristic facies due to mandibular transverse arch deficiency, oligodontia, and malocclusion, among others.",[612776],,,,,,,, +GARD:16973,Active,Orphanet,ORPHA:141242,Disorder,[Morphological anomaly],Paramedian nasal cleft,"[Alar cleft, Alar rim cleft, Cleft nose, Isolated cleft of the ala nasi, Isolated coloboma of the nose, Tessier number 1 cleft]","Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.",[614687],,,,,,,, +GARD:16974,Active,Orphanet,ORPHA:141258,Disorder,[Morphological anomaly],Tessier number 4 facial cleft,,"A rare oblique facial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus.",[600251],,,,,,,, +GARD:16975,Active,Orphanet,ORPHA:141276,Disorder,[Morphological anomaly],Tessier number 7 facial cleft,"[Commissural facial cleft, Transverse facial cleft]","A rare lateral facial cleft characterized by a temporo-zygomatic defect, usually with absence of the zygomatic arch and deformities of the mandibular ramus, condyle, and coronoid process. Associated soft tissue abnormalities include malformations of the ear and hypoplasia or absence of the temporal muscle. Preauricular hair may be absent or divided into two portions. Facial manifestations include macrostomia (with extension of the cleft to the corner of the mouth) and pre-auricular tags. Incomplete clefts may be found in the molar region and between the maxillary tuberosity and pterygoid process.",[613545],,,,,,,, +GARD:16976,Active,Orphanet,ORPHA:141291,Disorder,[Morphological anomaly],Cleft lip and alveolus,,"Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.","[608874, 225060, 602966, 608371, 600757, 612858, 119530, 610361, 129400]",,,,,,,, +GARD:16977,Active,Orphanet,ORPHA:157215,Disorder,[Disease],Hereditary hypophosphatemic rickets with hypercalciuria,[HHRH],"A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.",[241530],,,,,,,, +GARD:16978,Active,Orphanet,ORPHA:157713,Subtype of disorder,[Clinical subtype],Congenital or early infantile CACH syndrome,,,[603896],,,,,,,, +GARD:16979,Active,Orphanet,ORPHA:157716,Subtype of disorder,[Clinical subtype],Late infantile CACH syndrome,,,[603896],,,,,,,, +GARD:1698,Active,Orphanet,ORPHA:3230,Disorder,[Malformation syndrome],Deafness-oligodontia syndrome,[Hearing loss-oligodontia syndrome],Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.,[221740],,,,,Deafness oligodontia syndrome,TRUE,FALSE,Active +GARD:16980,Active,Orphanet,ORPHA:157719,Subtype of disorder,[Clinical subtype],Juvenile or adult CACH syndrome,,,[603896],,,,,,,, +GARD:16981,Active,Orphanet,ORPHA:157794,Disorder,[Disease],Hereditary mixed polyposis syndrome,[HMPS],"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.","[601228, 610069]",,,,,,,, +GARD:16982,Active,Orphanet,ORPHA:157798,Disorder,[Disease],Serrated polyposis syndrome,[Hyperplastic polyposis syndrome],"A rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.",[617108],,,,,,,, +GARD:16983,Active,Orphanet,ORPHA:157820,Disorder,[Disease],Cold-induced sweating syndrome,[CISS],"Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.","[272430, 610313, 617055]",,,,,,,, +GARD:16984,Active,Orphanet,ORPHA:157832,Disorder,[Malformation syndrome],Craniorhiny,,"A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.",[123050],,,,,,,, +GARD:16985,Active,Orphanet,ORPHA:157941,Disorder,[Disease],Huntington disease-like 1,"[Early-onset prion disease with prominent psychiatric features, HDL1]","A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities.",[603218],,,,,,,, +GARD:16986,Active,Orphanet,ORPHA:157946,Disorder,[Disease],Huntington disease-like 3,[HDL3],"Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.",[604802],,,,,,,, +GARD:16987,Active,Orphanet,ORPHA:157954,Disorder,[Disease],ANE syndrome,[Alopecia-progressive neurological defect-endocrinopathy syndrome],"A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.",[612079],,,,,,,, +GARD:16988,Active,Orphanet,ORPHA:157962,Disorder,[Malformation syndrome],"Oculoauricular syndrome, Schorderet type",,"Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).",[612109],,,,,,,, +GARD:16989,Active,Orphanet,ORPHA:158025,Disorder,[Disease],Hereditary progressive mucinous histiocytosis,,"Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.",[142630],,,,,,,, +GARD:1699,Legacy,GARD,,,,,,,,,,,,Deafness onychodystrophy dominant form,TRUE,FALSE,Retired +GARD:16990,Active,Orphanet,ORPHA:158681,Disorder,[Disease],Epidermolysis bullosa simplex with circinate migratory erythema,"[EBS with circinate migratory erythema, EBS-migr]","A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth.",[609352],,,,,,,, +GARD:16991,Active,Orphanet,ORPHA:158684,Disorder,[Disease],Epidermolysis bullosa simplex with pyloric atresia,"[EBS with pyloric atresia, EBS-PA]","A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.",[612138],,,,,,,, +GARD:16992,Active,Orphanet,ORPHA:163596,Subtype of disorder,[Clinical subtype],Hb Bart's hydrops fetalis,"[Alpha-thalassemia hydrops fetalis, Alpha-thalassemia major, Hemoglobin Bart's hydrops fetalis, Homozygous alpha0-thalassemia]","A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.",[236750],,,,,,,, +GARD:16993,Active,Orphanet,ORPHA:163649,Disorder,[Disease],Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome,,"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.","[602611, 618618]",,,,,,,, +GARD:16994,Active,Orphanet,ORPHA:163662,Disorder,[Disease],"Spondyloepiphyseal dysplasia, Reardon type",,"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.",[600561],,,,,,,, +GARD:16995,Active,Orphanet,ORPHA:163665,Disorder,[Disease],"Spondyloepiphyseal dysplasia tarda, Kohn type",,"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.",[271620],,,,,,,, +GARD:16996,Active,Orphanet,ORPHA:163668,Disorder,[Malformation syndrome],"Spondyloepiphyseal dysplasia, MacDermot type","[Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome, Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome]","Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.",[184000],,,,,,,, +GARD:16997,Active,Orphanet,ORPHA:163681,Disorder,[Disease],CNTNAP2-related developmental and epileptic encephalopathy,"[CDFE syndrome, CDFES, CNTNAP2-related DEE, Cortical dysplasia-focal epilepsy syndrome]","A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.",[610042],,,,,,,, +GARD:16998,Active,Orphanet,ORPHA:163690,Disorder,[Disease],Hypotonia-cystinuria syndrome,[HCS],"A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.",[606407],,,,,,,, +GARD:16999,Active,Orphanet,ORPHA:163693,Disorder,[Disease],2p21 microdeletion syndrome,"[2p21 deletion syndrome, Del(2)(p21), Monosomy 2p21]","The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.",[606407],,,,,,,, +GARD:17,Active,Orphanet,ORPHA:2356,Disorder,[Morphological anomaly],Arachnoid cyst,,"A disorder with extraparenchymal cysts, intra-arachnoidal collections of fluid, the composition of which is close to that of cerebrospinal fluid. They are often asymptomatic.","[182990, 207790]",,,,,Arachnoid cysts,TRUE,FALSE,Active +GARD:170,Legacy,GARD,,,,,,,,,,,,Macrocephaly mesodermal hamartoma spectrum,TRUE,FALSE,Retired +GARD:17000,Active,Orphanet,ORPHA:163696,Disorder,[Disease],Action myoclonus-renal failure syndrome,"[AMRF, EPM4, Myoclonus-nephropathy syndrome, Progressive myoclonic epilepsy type 4, Progressive myoclonus epilepsy type 4]","A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.",[254900],,,,,,,, +GARD:17001,Active,Orphanet,ORPHA:163717,Disorder,[Disease],Benign familial mesial temporal lobe epilepsy,[Benign FMTLE],"Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.","[614417, 611630, 615697]",,,,,,,, +GARD:17002,Active,Orphanet,ORPHA:163721,Disorder,[Disease],Rolandic epilepsy-speech dyspraxia syndrome,,"Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.","[300643, 245570]",,,,,,,, +GARD:17003,Active,Orphanet,ORPHA:163727,Disorder,[Disease],Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,[Rolandic epilepsy exercise-induced dystonia],"A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands.",[608105],,,,,,,, +GARD:17004,Active,Orphanet,ORPHA:163746,Disorder,[Disease],Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,"[Neurologic Waardenburg-Shah syndrome, PCWH, WS4 plus]",Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.,[609136],,,,,,,, +GARD:17005,Active,Orphanet,ORPHA:163956,Disorder,[Disease],"X-linked intellectual disability, Nascimento type",[X-linked intellectual disability-nail dystrophy-seizures syndrome],"X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.",[300860],,,,,,,, +GARD:17006,Active,Orphanet,ORPHA:163961,Disorder,[Disease],X-linked cerebral-cerebellar-coloboma syndrome,"[X-linked intellectual disability, Kroes type]","X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.",[300864],,,,,,,, +GARD:17007,Active,Orphanet,ORPHA:163966,Disorder,[Disease],"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",[X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome],"X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.",[300863],,,,,,,, +GARD:17008,Active,Orphanet,ORPHA:163976,Disorder,[Malformation syndrome],"X-linked intellectual disability, Van Esch type",,"A rare, genetic, syndromic intellectual disability characterized by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorfism include upslanted palpebral fissures and prominent nasal bridge.",[301030],,,,,,,, +GARD:17009,Active,Orphanet,ORPHA:163979,Disorder,[Disease],X-linked intellectual disability-craniofacioskeletal syndrome,,"X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.",[300712],,,,,,,, +GARD:1701,Legacy,GARD,,,,,,,,,,,,Deafness peripheral neuropathy arterial disease,TRUE,FALSE,Active +GARD:17010,Active,Orphanet,ORPHA:163985,Disorder,[Disease],Hyperekplexia-epilepsy syndrome,,"A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.",[300607],,,,,,,, +GARD:17011,Active,Orphanet,ORPHA:165805,Disorder,[Disease],Familial mesial temporal lobe epilepsy with febrile seizures,,"A rare, genetic, familial partial epilepsy disease characterized by simple partial seizures, complex partial seizures and/or secondarily generalized seizures, originating from the inner aspect of the temporal lobe, associated with an antecedant history of febrile seizures, ocurring in various members of a family. Hippocampal abnormalities (e.g. hippocampal sclerosis) may also be associated.",[614418],,,,,,,, +GARD:17012,Active,Orphanet,ORPHA:166011,Disorder,[Disease],"Multiple epiphyseal dysplasia, Beighton type","[Multiple epiphyseal dysplasia-myopia-deafness syndrome, Multiple epiphyseal dysplasia-myopia-hearing loss syndrome]","A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia, visual impairment (with early-onset progressive myopia, retinal thinning, and cataracts), and conductive hearing loss. Patients are of short stature and present brachydactyly, genu valgus deformity, and joint pain.",[132450],,,,,,,, +GARD:17013,Active,Orphanet,ORPHA:166016,Disorder,[Disease],"Multiple epiphyseal dysplasia, Lowry type",[Multiple epiphyseal dysplasia with Robin phenotype],"Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.",[601560],,,,,,,, +GARD:17014,Active,Orphanet,ORPHA:166024,Disorder,[Disease],"Multiple epiphyseal dysplasia, Al-Gazali type",[Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome],"A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum.",[607131],,,,,,,, +GARD:17015,Active,Orphanet,ORPHA:166029,Disorder,[Disease],"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia",,"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.",[609324],,,,,,,, +GARD:17016,Active,Orphanet,ORPHA:166032,Disorder,[Disease],"Multiple epiphyseal dysplasia, with miniepiphyses",,"Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.",[609325],,,,,,,, +GARD:17017,Active,Orphanet,ORPHA:166035,Disorder,[Malformation syndrome],Brachydactyly-short stature-retinitis pigmentosa syndrome,,"Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.",[250410],,,,,,,, +GARD:17018,Active,Orphanet,ORPHA:166038,Disorder,[Disease],"Metaphyseal chondrodysplasia, Kaitila type",,"Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.",[250230],,,,,,,, +GARD:17019,Active,Orphanet,ORPHA:166078,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 1,,"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF).",[193400],,,,,,,, +GARD:1702,Legacy,GARD,,,,,,,,,,,,Deafness progressive cataract autosomal dominant,TRUE,FALSE,Active +GARD:17020,Active,Orphanet,ORPHA:166081,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2,,"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N.",[613554],,,,,,,, +GARD:17021,Active,Orphanet,ORPHA:166084,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2A,,"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).",[613554],,,,,,,, +GARD:17022,Active,Orphanet,ORPHA:166087,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2B,,"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with increased affinity of the Willebrand factor (VWF) for platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and VWF from the plasma. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).",[613554],,,,,,,, +GARD:17023,Active,Orphanet,ORPHA:166090,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2M,,"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).",[613554],,,,,,,, +GARD:17024,Active,Orphanet,ORPHA:166093,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 2N,,"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, etc.).",[613554],,,,,,,, +GARD:17025,Active,Orphanet,ORPHA:166096,Subtype of disorder,[Clinical subtype],Von Willebrand disease type 3,,"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD.",[277480],,,,,,,, +GARD:17026,Active,Orphanet,ORPHA:166105,Disorder,[Disease],FASTKD2-related infantile mitochondrial encephalomyopathy,,"FASTKD2-related infantile mitochondrial encephalomyopathy is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.",[618855],,,,,,,, +GARD:17027,Active,Orphanet,ORPHA:166119,Disorder,[Disease],Isolated osteopoikilosis,,"A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.",[166700],,,,,,,, +GARD:17028,Active,Orphanet,ORPHA:166412,Disorder,[Disease],Hot water reflex epilepsy,,"Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.","[613339, 613340]",,,,,,,, +GARD:17029,Active,Orphanet,ORPHA:166433,Disorder,[Disease],Reading seizures,,A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures.,[132300],,,,,,,, +GARD:17030,Active,Orphanet,ORPHA:168451,Disorder,[Disease],Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome,,Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.,[601668],,,,,,,, +GARD:17031,Active,Orphanet,ORPHA:168486,Disorder,[Disease],Congenital neuronal ceroid lipofuscinosis,[Congenital NCL],"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.",[610127],,,,,,,, +GARD:17032,Active,Orphanet,ORPHA:168491,Disorder,[Disease],Late infantile neuronal ceroid lipofuscinosis,"[Jansky-Bielschowsky disease, LINCL, Late infantile NCL]","Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.","[610127, 610951, 600143, 601780, 256730, 204500, 256731]",,,,,,,, +GARD:17033,Active,Orphanet,ORPHA:168558,Disorder,[Disease],"46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency",[XY sex reversal-adrenal failure],"46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.",[613743],,,,,,,, +GARD:17034,Active,Orphanet,ORPHA:168563,Disorder,[Malformation syndrome],"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.",[607080],,,,,,,, +GARD:17035,Active,Orphanet,ORPHA:168566,Disorder,[Disease],Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,[Fatal mitochondrial disease due to COXPD3],"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.",[610505],,,,,,,, +GARD:17036,Active,Orphanet,ORPHA:168577,Disorder,[Disease],Hereditary cryohydrocytosis with reduced stomatin,"[CHC type 2, Hereditary cryohydrocytosis type 2, Stomatin-deficient cryohydrocytosis, sdCHC]","Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.",[608885],,,,,,,, +GARD:17037,Active,Orphanet,ORPHA:168583,Subtype of disorder,[Clinical subtype],Hereditary North American Indian childhood cirrhosis,,"Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.",[604901],,,,,,,, +GARD:17038,Active,Orphanet,ORPHA:168601,Disorder,[Disease],Congenital enteropathy due to enteropeptidase deficiency,[Congenital enterokinase deficiency],"Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.",[226200],,,,,,,, +GARD:17039,Active,Orphanet,ORPHA:168606,Disorder,[Disease],Seborrhea-like dermatitis with psoriasiform elements,,"Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.",[610227],,,,,,,, +GARD:17040,Active,Orphanet,ORPHA:168612,Disorder,[Biological anomaly],Congenital deficiency in alpha-fetoprotein,,Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.,[615969],,,,,,,, +GARD:17041,Active,Orphanet,ORPHA:168629,Subtype of disorder,[Etiological subtype],Autosomal thrombocytopenia with normal platelets,,,"[273900, 612004, 188000]",,,,,,,, +GARD:17042,Active,Orphanet,ORPHA:168632,Disorder,[Disease],Generalized basaloid follicular hamartoma syndrome,,"Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.",[605827],,,,,,,, +GARD:17043,Active,Orphanet,ORPHA:168953,Disorder,[Disease],Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement,"[8p11 myeloproliferative syndrome, Stem cell leukemia/lymphoma]","A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.",[613523],,,,,,,, +GARD:17044,Active,Orphanet,ORPHA:168984,Disorder,[Malformation syndrome],CLAPO syndrome,,"A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.",[613089],,,,,,,, +GARD:17045,Active,Orphanet,ORPHA:169079,Disorder,[Disease],Cernunnos-XLF deficiency,"[Cernunnos XLFD, Cernunnos deficiency, Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome, NHEJ1 deficiency]","Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.",[611291],,,,,,,, +GARD:17046,Active,Orphanet,ORPHA:169082,Disorder,[Disease],Combined immunodeficiency due to CD3gamma deficiency,,"A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.",[615607],,,,,,,, +GARD:17047,Active,Orphanet,ORPHA:169085,Disorder,[Disease],Susceptibility to respiratory infections associated with CD8alpha chain mutation,[Familial CD8 deficiency],A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.,[608957],,,,,,,, +GARD:17048,Active,Orphanet,ORPHA:169090,Disorder,[Disease],Combined immunodeficiency due to CRAC channel dysfunction,[Immune dysfunction due to T-cell inactivation due to calcium entry defect],"Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.","[612783, 612782]",,,,,,,, +GARD:17049,Active,Orphanet,ORPHA:169100,Disorder,[Disease],Immunodeficiency due to CD25 deficiency,[Interleukin-2 receptor alpha chain deficiency],"Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.",[606367],,,,,,,, +GARD:1705,Active,Orphanet,ORPHA:3239,Disorder,[Malformation syndrome],Deafness-vitiligo-achalasia syndrome,[Hearing loss-vitiligo-achalasia syndrome],"Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.",[221350],,,,,Congenital deafness with vitiligo and achalasia,TRUE,FALSE,Active +GARD:17050,Active,Orphanet,ORPHA:169150,Disorder,[Disease],Immunodeficiency due to a late component of complement deficiency,"[Immunodeficiency due to C5 to C9 component complement deficiency, Terminal complement pathway deficiency]","Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.","[612446, 613789, 609536, 610102, 613790, 613825]",,,,,,,, +GARD:17051,Active,Orphanet,ORPHA:169154,Disorder,[Disease],T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,[T-B+ SCID due to IL-7Ralpha deficiency],"A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.",[608971],,,,,,,, +GARD:17052,Active,Orphanet,ORPHA:169157,Disorder,[Disease],T-B+ severe combined immunodeficiency due to CD45 deficiency,[T-B+ SCID due to CD45 deficiency],"A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.",[608971],,,,,,,, +GARD:17053,Active,Orphanet,ORPHA:169160,Disorder,[Disease],T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,[T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta],"A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients.","[610163, 615615, 608971, 615617]",,,,,,,, +GARD:17054,Active,Orphanet,ORPHA:169464,Disorder,[Disease],Primary CD59 deficiency,,"Primary CD59 deficiency is a rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).",[612300],,,,,,,, +GARD:17055,Active,Orphanet,ORPHA:169467,Disorder,[Disease],Recurrent Neisseria infections due to factor D deficiency,,"Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.",[613912],,,,,,,, +GARD:17056,Active,Orphanet,ORPHA:169793,Subtype of disorder,[Clinical subtype],Severe hemophilia B,"[Severe congenital F9 deficiency, Severe congenital factor IX deficiency]","A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.",[306900],,,,,,,, +GARD:17057,Active,Orphanet,ORPHA:169796,Subtype of disorder,[Clinical subtype],Moderate hemophilia B,"[Moderate congenital F9 deficiency, Moderate congenital factor IX deficiency]","A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.",[306900],,,,,,,, +GARD:17058,Active,Orphanet,ORPHA:169799,Subtype of disorder,[Clinical subtype],Mild hemophilia B,"[Mild congenital F9 deficiency, Mild congenital factor IX deficiency]","A mild form of hemophilia B characterized by a small deficiency of factor IX (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages do not occur. The condition may affect males and female carriers of disease-causing mutations.",[306900],,,,,,,, +GARD:17059,Active,Orphanet,ORPHA:169802,Subtype of disorder,[Clinical subtype],Severe hemophilia A,"[Severe congenital F8 deficiency, Severe congenital factor VIII deficiency]","A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.",[306700],,,,,,,, +GARD:17060,Active,Orphanet,ORPHA:169805,Subtype of disorder,[Clinical subtype],Moderate hemophilia A,"[Moderate congenital F8 deficiency, Moderate congenital factor VIII deficiency]","A moderately severe form of hemophilia A characterized by factor VIII deficiency (biological activity between 1 and 5 IU/dL) leading to abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.",[306700],,,,,,,, +GARD:17061,Active,Orphanet,ORPHA:169808,Subtype of disorder,[Clinical subtype],Mild hemophilia A,"[Mild congenital F8 deficiency, Mild congenital factor VIII deficiency]","A mild form of hemophilia A characterized by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous hemorrhages do not occur. Patients may be also labeled as having mild hemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with hemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations.",[306700],,,,,,,, +GARD:17062,Active,Orphanet,ORPHA:171445,Disorder,[Disease],Muscle filaminopathy,,"Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.",[609524],,,,,,,, +GARD:17063,Active,Orphanet,ORPHA:171607,Disorder,[Disease],X-linked spastic paraplegia type 34,[SPG34],"X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.",[300750],,,,,,,, +GARD:17064,Active,Orphanet,ORPHA:171612,Disorder,[Disease],Autosomal dominant spastic paraplegia type 37,[SPG37],"A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.",[611945],,,,,,,, +GARD:17065,Active,Orphanet,ORPHA:171617,Disorder,[Disease],Autosomal dominant spastic paraplegia type 38,[SPG38],"A complex hereditary spastic paraplegia characterized by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, pes cavus, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported.",[612335],,,,,,,, +GARD:17066,Active,Orphanet,ORPHA:171680,Disorder,[Malformation syndrome],Lissencephaly due to TUBA1A mutation,,"Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.",[611603],,,,,,,, +GARD:17067,Active,Orphanet,ORPHA:171690,Disorder,[Disease],Metabolic myopathy due to lactate transporter defect,[Erythrocyte lactate transporter defect],"Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.",[245340],,,,,,,, +GARD:17068,Active,Orphanet,ORPHA:171706,Disorder,[Disease],Short stature-delayed bone age due to thyroid hormone metabolism deficiency,,"Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.",[609698],,,,,,,, +GARD:17069,Active,Orphanet,ORPHA:171719,Disorder,[Malformation syndrome],Cutis laxa-Marfanoid syndrome,,"A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.",[614100],,,,,,,, +GARD:1707,Legacy,GARD,,,,,,,,,,,,"Deafness X-linked, DFN3",TRUE,FALSE,Active +GARD:17070,Active,Orphanet,ORPHA:171844,Disorder,[Malformation syndrome],Blindness-scoliosis-arachnodactyly syndrome,,This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.,[612445],,,,,,,, +GARD:17071,Active,Orphanet,ORPHA:171848,Disorder,[Disease],Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,"[PHARC syndrome, Peripheral neuropathy, Fiskerstrand type, Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome]","Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.",[612674],,,,,,,, +GARD:17072,Active,Orphanet,ORPHA:171851,Disorder,[Disease],MEDNIK syndrome,"[Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome, Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome]","A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.",[609313],,,,,,,, +GARD:17073,Active,Orphanet,ORPHA:171863,Disorder,[Disease],Autosomal dominant spastic paraplegia type 42,[SPG42],"A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.",[612539],,,,,,,, +GARD:17074,Active,Orphanet,ORPHA:177907,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to translocation,,,[176270],,,,,,,, +GARD:17075,Active,Orphanet,ORPHA:177910,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to imprinting mutation,,,[176270],,,,,,,, +GARD:17076,Active,Orphanet,ORPHA:177926,Subtype of disorder,[Clinical subtype],Bleeding disorder in hemophilia A carriers,,"A rare bleeding disorder in association with carrier mutations in the F8 gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.",[306700],,,,,,,, +GARD:17077,Active,Orphanet,ORPHA:177929,Subtype of disorder,[Clinical subtype],Bleeding disorder in hemophilia B carriers,,"A rare bleeding disorder in association with carrier mutations in the F9 gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.",[306900],,,,,,,, +GARD:17078,Active,Orphanet,ORPHA:178145,Subtype of disorder,[Clinical subtype],Moderate multiminicore disease with hand involvement,,,[117000],,,,,,,, +GARD:17079,Active,Orphanet,ORPHA:178307,Disorder,[Disease],Reticulate acropigmentation of Kitamura,[RAK],"A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.",[615537],,,,,,,, +GARD:1708,Active,Orphanet+OMIM,OMIM:605192,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 23",,,[605192],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 23",TRUE,FALSE,Active +GARD:17080,Active,Orphanet,ORPHA:178400,Disorder,[Disease],Distal myopathy with anterior tibial onset,[Distal anterior compartment myopathy],"Distal myopathy with anterior tibial onset is a rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.",[606768],,,,,,,, +GARD:17081,Active,Orphanet,ORPHA:178461,Disorder,[Disease],X-linked myopathy with postural muscle atrophy,[XMPMA],"X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.",[300696],,,,,,,, +GARD:17082,Active,Orphanet,ORPHA:178506,Disorder,[Disease],"Brain calcification, Rajab type",,"A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.","[619013, 613658]",,,,,,,, +GARD:17083,Active,Orphanet,ORPHA:179494,Subtype of disorder,[Etiological subtype],Obesity due to leptin receptor gene deficiency,,"A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency.",[614963],,,,,,,, +GARD:17084,Active,Orphanet,ORPHA:183663,Disorder,[Disease],Hyper-IgM syndrome with susceptibility to opportunistic infections,[HIGM with susceptibility to opportunistic infections],"Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation.","[308230, 606843]",,,,,,,, +GARD:17085,Active,Orphanet,ORPHA:183666,Disorder,[Disease],Hyper-IgM syndrome without susceptibility to opportunistic infections,[HIGM without susceptibility to opportunistic infections],"Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.","[608106, 605258, 608184]",,,,,,,, +GARD:17086,Active,Orphanet,ORPHA:183675,Disorder,[Disease],Recurrent infections associated with rare immunoglobulin isotypes deficiency,"[IgG subclass deficiency with IgA subclass deficiency, Isolated IgG subclass deficiency, Kappa-chain deficiency, Selective IgG subclass deficiency]","Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.",[614102],,,,,,,, +GARD:17087,Active,Orphanet,ORPHA:183707,Disorder,[Disease],Neutrophil immunodeficiency syndrome,,"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.","[618987, 608203]",,,,,,,, +GARD:17088,Active,Orphanet,ORPHA:189466,Subtype of disorder,[Clinical subtype],Familial isolated hypoparathyroidism due to impaired PTH secretion,,,[146200],,,,,,,, +GARD:17089,Active,Orphanet,ORPHA:199279,Disorder,[Disease],Familial angiolipomatosis,,"Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.",[206550],,,,,,,, +GARD:1709,Legacy,GARD,,,,,,,,,,,,"Deafness, isolated, due to mitochondrial transmission",TRUE,FALSE,Active +GARD:17090,Active,Orphanet,ORPHA:199285,Disorder,[Disease],Hereditary hypercarotenemia and vitamin A deficiency,,"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.","[115300, 277350]",,,,,,,, +GARD:17091,Active,Orphanet,ORPHA:199302,Disorder,[Morphological anomaly],Isolated cleft lip,,Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.,"[608874, 225060, 602966, 608371, 600757, 612858, 119530, 610361, 129400]",,,,,,,, +GARD:17092,Active,Orphanet,ORPHA:199306,Disorder,[Morphological anomaly],Cleft lip/palate,"[Alveolar cleft lip and palate, Cleft lip and palate, Cleft lip-alveolus-palate syndrome, FLP]","Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.","[225060, 618149, 608864, 600625, 608371, 600757, 612858, 610361, 129400, 608874, 616788, 602966, 119530, 613705]",,,,,,,, +GARD:17093,Active,Orphanet,ORPHA:199315,Disorder,[Malformation syndrome],Familial clubfoot with or without associated lower limb anomalies,,"Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.","[613618, 119800]",,,,,,,, +GARD:17094,Active,Orphanet,ORPHA:199332,Disorder,[Malformation syndrome],Endocrine-cerebro-osteodysplasia syndrome,[ECO syndrome],"Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.",[612651],,,,,,,, +GARD:17095,Active,Orphanet,ORPHA:199337,Disorder,[Disease],Pancreatic insufficiency-anemia-hyperostosis syndrome,,"This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.",[612714],,,,,,,, +GARD:17096,Active,Orphanet,ORPHA:199340,Disorder,[Disease],"Muscular dystrophy, Selcen type",,Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.,[612954],,,,,,,, +GARD:17097,Active,Orphanet,ORPHA:199348,Disorder,[Disease],Thiamine-responsive encephalopathy,,Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine.,[607483],,,,,,,, +GARD:17098,Active,Orphanet,ORPHA:200418,Disorder,[Disease],Immunodeficiency with factor I anomaly,[Complete factor I deficiency],"Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumoniae), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.",[610984],,,,,,,, +GARD:17099,Active,Orphanet,ORPHA:200421,Disorder,[Disease],Immunodeficiency with factor H anomaly,,"Immunodeficiency with factor H anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properdin, complement C3 and terminal complement components.",[609814],,,,,,,, +GARD:171,Legacy,GARD,,,,,,,,,,,,Le Marec Bracq Picaud syndrome,TRUE,FALSE,Active +GARD:1710,Legacy,GARD,,,,,,,,,,,,"Deafness, neurosensory nonsyndromic recessive, DFN",TRUE,FALSE,Active +GARD:17100,Active,Orphanet,ORPHA:206484,Disorder,[Disease],Gonadoblastoma,,"Gonadoblastoma is a rare benign neoplasm of mixed sex cord and germ cells, arising mostly in the dysgenic gonads of young women with a chromosome Y anomaly, presenting with abdominal enlargement, variable feminization or virilization or, in some cases, being asymptomatic. It is often associated with dysgerminoma.",[424500],,,,,,,, +GARD:17101,Active,Orphanet,ORPHA:206580,Disorder,[Disease],Autosomal recessive lower motor neuron disease with childhood onset,"[Autosomal recessive distal spinal muscular atrophy type 4, Distal spinal muscular atrophy type 4, dSMA4]","A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.",[611067],,,,,,,, +GARD:17102,Active,Orphanet,ORPHA:209335,Disorder,[Disease],Autosomal dominant adult-onset proximal spinal muscular atrophy,"[Autosomal dominant adult-onset proximal SMA, Autosomal dominant late-onset spinal muscular atrophy, Finkel type, Finkel disease, SMAFK]","A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.",[182980],,,,,,,, +GARD:17103,Active,Orphanet,ORPHA:209370,Disorder,[Disease],Severe neonatal-onset encephalopathy with microcephaly,[Severe congenital encephalopathy due to MECP2 mutation],"Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.",[300673],,,,,,,, +GARD:17104,Active,Orphanet,ORPHA:209867,Disorder,[Disease],Autosomal dominant rhegmatogenous retinal detachment,,"A rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.",[609508],,,,,,,, +GARD:17105,Active,Orphanet,ORPHA:209916,Disorder,[Disease],Extraskeletal myxoid chondrosarcoma,,"A rare soft tissue sarcoma characterized by a lesion in the deep soft tissues of the proximal extremities and limb girdles, composed of malignant chondroblast-like cells arranged in cords, clusters, or networks, and an abundant myxoid matrix. The tumor is typically encased by a pseudocapsule and divided into multiple nodules by fibrous septa. Patients present with a soft tissue mass which can be painful and may ulcerate the skin or restrict range of motion if located next to joints. Despite prolonged survival, local recurrence and metastasis are frequent.",[612237],,,,,,,, +GARD:17106,Active,Orphanet,ORPHA:209919,Disorder,[Disease],Idiopathic copper-associated cirrhosis,[Non-Wilsonian hepatic copper toxicosis of infancy and childhood],"Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.",[215600],,,,,,,, +GARD:17107,Active,Orphanet,ORPHA:209967,Disorder,[Disease],Episodic ataxia type 6,,"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.",[612656],,,,,,,, +GARD:17108,Active,Orphanet,ORPHA:209970,Disorder,[Disease],Episodic ataxia type 7,,"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.",[611907],,,,,,,, +GARD:17109,Active,Orphanet,ORPHA:210141,Disorder,[Disease],Inherited congenital spastic tetraplegia,[Inherited congenital spastic quadriplegia],"Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.","[617008, 612900]",,,,,,,, +GARD:17110,Active,Orphanet,ORPHA:210144,Disorder,[Malformation syndrome],"Lethal polymalformative syndrome, Boissel type",,"Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.",[612938],,,,,,,, +GARD:17111,Active,Orphanet,ORPHA:210163,Disorder,[Disease],"Congenital lethal myopathy, Compton-North type",,"Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.",[612540],,,,,,,, +GARD:17112,Active,Orphanet,ORPHA:210548,Disorder,[Disease],Macrocephaly-intellectual disability-autism syndrome,,"A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.","[605309, 613926]",,,,,,,, +GARD:17113,Active,Orphanet,ORPHA:211067,Disorder,[Disease],Episodic ataxia type 5,,Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours.,[613855],,,,,,,, +GARD:17114,Active,Orphanet,ORPHA:216866,Subtype of disorder,[Clinical subtype],Classic pantothenate kinase-associated neurodegeneration,"[NBIA1, classic form, Neurodegeneration with brain iron accumulation type 1, classic form, PKAN, classic form]",,[234200],,,,,,,, +GARD:17115,Active,Orphanet,ORPHA:216873,Subtype of disorder,[Clinical subtype],Atypical pantothenate kinase-associated neurodegeneration,"[NBIA1, atypical form, Neurodegeneration with brain iron accumulation type 1, atypical form, PKAN, atypical form]",,[234200],,,,,,,, +GARD:17116,Active,Orphanet,ORPHA:217026,Disorder,[Malformation syndrome],"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type","[Hadziselimovic syndrome, Microcephaly-faciocardioskeletal syndrome]","Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations (see this term), characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot; see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.",[612946],,,,,,,, +GARD:17117,Active,Orphanet,ORPHA:217059,Disorder,[Morphological anomaly],Isolated congenital digital clubbing,"[Isolated congenital acropachy, Isolated congenital nail clubbing]",Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.,[119900],,,,,,,, +GARD:17118,Active,Orphanet,ORPHA:217085,Subtype of disorder,[Clinical subtype],"Mucopolysaccharidosis type 2, severe form","[Hunter syndrome type A, Iduronate 2-sulfatase deficiency type A, MPS2A, MPSIIA, Mucopolysaccharidosis type 2A, Mucopolysaccharidosis type II, severe form, Mucopolysaccharidosis type IIA]","Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.",[309900],,,,,,,, +GARD:17119,Active,Orphanet,ORPHA:217093,Subtype of disorder,[Clinical subtype],"Mucopolysaccharidosis type 2, attenuated form","[Hunter syndrome type B, Iduronate 2-sulfatase deficiency type B, MPS2B, MPSIIB, Mucopolysaccharidosis type 2B, Mucopolysaccharidosis type II, attenuated form, Mucopolysaccharidosis type IIB]","Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.",[309900],,,,,,,, +GARD:17120,Active,Orphanet,ORPHA:217335,Disorder,[Malformation syndrome],RIN2 syndrome,"[MACS syndrome, Macrocephaly-alopecia-cutis laxa-scoliosis syndrome, RIN2 deficiency, Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome]","RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.",[613075],,,,,,,, +GARD:17121,Active,Orphanet,ORPHA:217340,Disorder,[Malformation syndrome],17q21.31 microduplication syndrome,"[Dup(17)(q21.31), Trisomy 17q21.31]","The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.",[613533],,,,,,,, +GARD:17122,Active,Orphanet,ORPHA:217385,Disorder,[Malformation syndrome],17p13.3 microduplication syndrome,"[17p13.3 duplication syndrome, Dup(17)(p13.3), Trisomy 17p13.3]",17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.,[613215],,,,,,,, +GARD:17123,Active,Orphanet,ORPHA:217396,Disorder,[Disease],Progressive polyneuropathy with bilateral striatal necrosis,,"Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.",[613710],,,,,,,, +GARD:17124,Active,Orphanet,ORPHA:217407,Disorder,[Disease],Hereditary hypotrichosis with recurrent skin vesicles,,"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.",[613102],,,,,,,, +GARD:17125,Active,Orphanet,ORPHA:217467,Disorder,[Disease],Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,[Hereditary thrombophilia due to congenital HRG deficiency],"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.",[613116],,,,,,,, +GARD:17126,Active,Orphanet,ORPHA:217563,Disorder,[Disease],Neonatal acute respiratory distress due to SP-B deficiency,[Neonatal acute respiratory distress due to surfactant protein B deficiency],"A rare genetic interstitial lung disease characterized by progressive, life-threatening, refractory respiratory distress in full-term neonates associated with surfactant protein B deficiency. In most cases, the disease is fatal within the first months of life. Lung biopsy reveals changes characteristic of pulmonary alveolar proteinosis with interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces.",[265120],,,,,,,, +GARD:17127,Active,Orphanet,ORPHA:217566,Disorder,[Disease],Chronic respiratory distress with surfactant metabolism deficiency,,"Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse.",[610913],,,,,,,, +GARD:17128,Active,Orphanet,ORPHA:217622,Disorder,[Disease],Sensorineural deafness with dilated cardiomyopathy,"[Neurosensory deafness with dilated cardiomyopathy, Neurosensory hearing loss with dilated cardiomyopathy, Sensorineural hearing loss with dilated cardiomyopathy]","Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.",[605362],,,,,,,, +GARD:17129,Active,Orphanet,ORPHA:217656,Disorder,[Disease],Familial isolated arrhythmogenic right ventricular dysplasia,"[Familial isolated ARVC, Familial isolated ARVD, Familial isolated arrhythmogenic right ventricular cardiomyopathy, Familial isolated arrhythmogenic ventricular cardiomyopathy, Familial isolated arrhythmogenic ventricular dysplasia]","Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.","[604400, 610193, 611528, 615616, 610476, 600996, 607450, 107970, 602086, 604401, 609040, 602087]",,,,,,,, +GARD:17130,Active,Orphanet,ORPHA:220295,Disorder,[Disease],Xeroderma pigmentosum-Cockayne syndrome complex,[XP/CS complex],Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).,"[610651, 278780, 278730, 278760]",,,,,,,, +GARD:17131,Active,Orphanet,ORPHA:220386,Subtype of disorder,[Clinical subtype],Semilobar holoprosencephaly,,"A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.","[609637, 301043, 610829, 157170]",,,,,,,, +GARD:17132,Active,Orphanet,ORPHA:220443,Disorder,[Disease],Bleeding diathesis due to thromboxane synthesis deficiency,,"Bleeding diathesis due to thromboxane synthesis deficiency is a rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).",[614009],,,,,,,, +GARD:17133,Active,Orphanet,ORPHA:220465,Disorder,[Disease],Laron syndrome with immunodeficiency,"[Laron-like syndrome, Short stature due to STAT5b deficiency]",This syndrome is characterized by severe growth retardation associated with immunodeficiency.,"[245590, 618985]",,,,,,,, +GARD:17134,Active,Orphanet,ORPHA:221008,Subtype of disorder,[Clinical subtype],Rothmund-Thomson syndrome type 1,"[Poikiloderma of Rothmund-Thomson type 1, RTS1]","Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer.","[618625, 268400]",,,,,,,, +GARD:17135,Active,Orphanet,ORPHA:221016,Subtype of disorder,[Clinical subtype],Rothmund-Thomson syndrome type 2,"[Poikiloderma of Rothmund-Thomson type 2, RTS2]","Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.",[268400],,,,,,,, +GARD:17136,Active,Orphanet,ORPHA:221039,Disorder,[Disease],"Hereditary sclerosing poikiloderma, Weary type",,"A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.",[173700],,,,,,,, +GARD:17137,Active,Orphanet,ORPHA:221083,Disorder,[Disease],Hemifacial spasm,"[Facial hemispasm, Focal myoclonus of face]","A rare acquired peripheral neuropathy characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses.",[141405],,,,,,,, +GARD:17138,Active,Orphanet,ORPHA:221126,Disorder,[Malformation syndrome],Fowler vasculopaty,"[Cerebral proliferative glomeruloid vasculopathy, Encephaloclastic proliferative vasculopathy, Hydrocephaly/hydranencephaly due to cerebral vasculopathy, Proliferative vasculopathy and hydranencephaly/hydrocephaly]","A rare, genetic neurological disorder characterized by hydranencephaly, distinctive glomeruloid vasculopathy in the central nervous system and retina, polyhydramnios and fetal akinesia with arthrogryposis. The disorder is usually prenatally lethal. In rare reported cases that survived beyond infancy, severe intellectual and neurologic disability with seizures, microcephaly and absence of functional movements were reported.",[225790],,,,,,,, +GARD:17139,Active,Orphanet,ORPHA:221139,Disorder,[Disease],Combined immunodeficiency with faciooculoskeletal anomalies,[Roifman-Chitayat syndrome],"A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).",[613328],,,,,,,, +GARD:17140,Active,Orphanet,ORPHA:221145,Disorder,[Malformation syndrome],"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies","[ARCL1C, Autosomal recessive cutis laxa type 1C, Urban-Rifkin-Davis syndrome]","A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).",[613177],,,,,,,, +GARD:17141,Active,Orphanet,ORPHA:225154,Disorder,[Disease],Familial infantile bilateral striatal necrosis,"[Familial IBSN, Familial infantile striatonigral degeneration, Familial infantile striatonigral necrosis]","Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.","[271930, 500003]",,,,,,,, +GARD:17142,Active,Orphanet,ORPHA:227535,Disorder,[Disease],Hereditary breast cancer,"[Familial breast cancer, Familial breast carcinoma, Hereditary breast carcinoma]","A rare genetic gynecological tumor characterized by early onset breast cancer in association with a germline mutation. Tumors arising in carriers of BRCA1 and BRCA2 mutations differ morphologically and genetically from each other, as well as from sporadic breast cancers. Most BRCA1-associated tumors are invasive ductal adenocarcinomas of no special type, typically of higher grade than sporadic tumors, and more often negative for hormone receptors. In addition, more cases with features of typical or atypical medullary carcinoma are seen in these patients. Likewise, BRCA2-associated tumors tend to be of higher grade than sporadic ones, although their phenotype is similar. They show a low frequency of HER-2 expression.","[612555, 604370, 114480, 613399]",,,,,,,, +GARD:17143,Active,Orphanet,ORPHA:227976,Disorder,[Disease],"Autosomal recessive optic atrophy, OPA7 type",,"A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.",[612989],,,,,,,, +GARD:17144,Active,Orphanet,ORPHA:228003,Disorder,[Disease],Severe combined immunodeficiency due to CORO1A deficiency,"[SCID due to CORO1A deficiency, SCID due to coronin-1A deficiency, Severe combined immunodeficiency due to coronin-1A deficiency]","A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder).",[615401],,,,,,,, +GARD:17145,Active,Orphanet,ORPHA:228012,Disorder,[Disease],Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,"[Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome, Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome, Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome]","A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.",[606346],,,,,,,, +GARD:17146,Active,Orphanet,ORPHA:228169,Disorder,[Disease],Autosomal dominant striatal neurodegeneration,[ADSD],"An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.",[609161],,,,,,,, +GARD:17147,Active,Orphanet,ORPHA:228179,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2M,[CMT2M],"A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.",[606482],,,,,,,, +GARD:17148,Active,Orphanet,ORPHA:228190,Disorder,[Malformation syndrome],Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,[Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome],"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.",[604381],,,,,,,, +GARD:17149,Active,Orphanet,ORPHA:228302,Subtype of disorder,[Clinical subtype],"Carnitine palmitoyl transferase II deficiency, myopathic form","[CPT2, adult-onset form, CPT2, myopathic form, CPTII, adult-onset form, CPTII, myopathic form, Carnitine palmitoyl transferase II deficiency, adult-onset form, Carnitine palmitoyl transferase deficiency type 2, adult-onset form, Carnitine palmitoyl transferase deficiency type 2, myopathic form]","The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).",[255110],,,,,,,, +GARD:1715,Legacy,GARD,,,,,,,,,,,,"Deafness, X-linked, DFN",TRUE,FALSE,Active +GARD:17150,Active,Orphanet,ORPHA:228305,Subtype of disorder,[Clinical subtype],"Carnitine palmitoyl transferase II deficiency, severe infantile form","[CPT2, hepatocardiomuscular form, CPT2, severe infantile form, CPTII, hepatocardiomuscular form, CPTII, severe infantile form, Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form, Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form, Carnitine palmitoyl transferase deficiency type 2, severe infantile form]","The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.",[600649],,,,,,,, +GARD:17151,Active,Orphanet,ORPHA:228308,Subtype of disorder,[Clinical subtype],"Carnitine palmitoyl transferase II deficiency, neonatal form","[CPT2, lethal systemic form, CPT2, neonatal form, CPTII, lethal systemic form, CPTII, neonatal form, Carnitine palmitoyl transferase II deficiency, lethal systemic form, Carnitine palmitoyl transferase deficiency type 2, lethal systemic form, Carnitine palmitoyl transferase deficiency type 2, neonatal form]","The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.",[608836],,,,,,,, +GARD:17152,Active,Orphanet,ORPHA:228354,Subtype of disorder,[Etiological subtype],CLN8 disease,,,[600143],,,,,,,, +GARD:17153,Active,Orphanet,ORPHA:228374,Disorder,[Disease],Charcot-Marie-Tooth disease type 2B5,"[AR-CMT2B5, Autosomal recessive Charcot-Marie-Tooth disease type 2B5, SEOAN due to NEFL deficiency, Severe early-onset axonal neuropathy due to NEFL deficiency, Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency]","A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.",[607734],,,,,,,, +GARD:17154,Active,Orphanet,ORPHA:228387,Disorder,[Disease],Spondylo-megaepiphyseal-metaphyseal dysplasia,,"Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.",[613330],,,,,,,, +GARD:17155,Active,Orphanet,ORPHA:229717,Disorder,[Disease],Isolated agammaglobulinemia,[Isolated hypogammaglobulinemia],"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.","[613506, 300310, 616941, 613500, 615214, 613501, 300755, 613502, 601495, 612692]",,,,,,,, +GARD:17156,Active,Orphanet,ORPHA:230857,Disorder,[Disease],Ehlers-Danlos/osteogenesis imperfecta syndrome,[EDS/OI syndrome],"A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.","[619115, 619120]",,,,,,,, +GARD:17157,Active,Orphanet,ORPHA:231031,Disorder,[Disease],Erythema palmare hereditarium,"[Lane disease, Red palms disease]","Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.",[133000],,,,,,,, +GARD:17158,Active,Orphanet,ORPHA:231040,Disorder,[Disease],Familial generalized lentiginosis,"[Familial lentigines profusa, Familial multiple lentigines syndrome without systemic involvement]","Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.",[151001],,,,,,,, +GARD:17159,Active,Orphanet,ORPHA:231108,Subtype of disorder,[Clinical subtype],Familial rhabdoid tumor,"[RTPS, Rhabdoid tumor predisposition syndrome]",,"[613325, 609322]",,,,,,,, +GARD:17160,Active,Orphanet,ORPHA:231120,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to CDKN1C mutation,,,[130650],,,,,,,, +GARD:17161,Active,Orphanet,ORPHA:231160,Disorder,[Disease],Familial cerebral saccular aneurysm,"[Familial berry aneurysm, Familial intracranial saccular aneurysm]","A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms.","[609122, 300870, 618734, 608542, 611892, 612161, 612586, 105800, 614252, 612162, 612587, 610213]",,,,,,,, +GARD:17162,Active,Orphanet,ORPHA:231214,Subtype of disorder,[Clinical subtype],Beta-thalassemia major,"[Cooley anemia, Mediterranean anemia]",Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.,[613985],,,,,,,, +GARD:17163,Active,Orphanet,ORPHA:231222,Subtype of disorder,[Clinical subtype],Beta-thalassemia intermedia,,Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion.,[613985],,,,,,,, +GARD:17164,Active,Orphanet,ORPHA:231226,Subtype of disorder,[Clinical subtype],Dominant beta-thalassemia,[Inclusion body beta-thalassemia],Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia.,[603902],,,,,,,, +GARD:17165,Active,Orphanet,ORPHA:231237,Disorder,[Disease],Delta-beta-thalassemia,,Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.,[141749],,,,,,,, +GARD:17166,Active,Orphanet,ORPHA:231393,Disorder,[Disease],Beta-thalassemia-X-linked thrombocytopenia syndrome,[XLTT],"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.",[314050],,,,,,,, +GARD:17167,Active,Orphanet,ORPHA:231401,Disorder,[Disease],Alpha-thalassemia-myelodysplastic syndrome,"[ATMDS, Acquired HbH disease, Acquired hemoglobin H disease]",An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).,[300448],,,,,,,, +GARD:17168,Active,Orphanet,ORPHA:231500,Subtype of disorder,[Clinical subtype],Hermansky-Pudlak syndrome due to BLOC-3 deficiency,"[HPS with pulmonary fibrosis, Hermansky-Pudlak syndrome with pulmonary fibrosis]","Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.","[203300, 614073]",,,,,,,, +GARD:17169,Active,Orphanet,ORPHA:231512,Subtype of disorder,[Clinical subtype],Hermansky-Pudlak syndrome due to BLOC-2 deficiency,"[HPS without pulmonary fibrosis, Hermansky-Pudlak syndrome without pulmonary fibrosis]","Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.","[614072, 614074, 614075]",,,,,,,, +GARD:1717,Legacy,GARD,,,,,,,,,,,,Deal Barratt Dillon syndrome,TRUE,FALSE,Retired +GARD:17170,Active,Orphanet,ORPHA:231531,Subtype of disorder,[Clinical subtype],Hermansky-Pudlak syndrome due to BLOC-1 deficiency,,,"[614171, 619172, 614076, 614077]",,,,,,,, +GARD:17171,Active,Orphanet,ORPHA:238329,Disorder,[Disease],Severe X-linked mitochondrial encephalomyopathy,"[Mitochondrial encephalomyopathy due to COXPD6, Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6]","Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.",[300816],,,,,,,, +GARD:17172,Active,Orphanet,ORPHA:238446,Disorder,[Malformation syndrome],15q11q13 microduplication syndrome,"[15q11q13 duplication syndrome, Dup(15)(q11q13), Trisomy 15q11q13]","The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.",[608636],,,,,,,, +GARD:17173,Active,Orphanet,ORPHA:238475,Disorder,[Disease],Familial hypercholanemia,[Hereditary hypercholanemia],"Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.","[619256, 607748]",,,,,,,, +GARD:17174,Active,Orphanet,ORPHA:238505,Disorder,[Disease],Combined immunodeficiency due to CD27 deficiency,"[Autosomal recessive lymphoproliferative disease due to CD27 deficiency, CD27 deficiency]","A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.",[615122],,,,,,,, +GARD:17175,Active,Orphanet,ORPHA:238523,Disorder,[Disease],Atypical hypotonia-cystinuria syndrome,[Atypical HCS],"A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).",[606407],,,,,,,, +GARD:17176,Active,Orphanet,ORPHA:238557,Disorder,[Disease],Chuvash erythrocytosis,"[Chuvash polycythemia, Von Hippel-Lindau-dependent polycythemia]","Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.",[263400],,,,,,,, +GARD:17177,Active,Orphanet,ORPHA:238578,Subtype of disorder,[Etiological subtype],Familial clubfoot due to 17q23.1q23.2 microduplication,[Hereditary clubfoot due to 17q23.1-q23.2 microduplication],17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.,[613618],,,,,,,, +GARD:17178,Active,Orphanet,ORPHA:238613,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to NSD1 mutation,,,[130650],,,,,,,, +GARD:17179,Active,Orphanet,ORPHA:238670,Disorder,[Disease],Isolated thyrotropin-releasing hormone deficiency,"[Isolated TRF deficiency, Isolated TRH deficiency, Isolated TSH-releasing factor deficiency, Isolated prothyroliberin deficiency, Isolated protirelin deficiency, Isolated thyroliberin deficiency, Isolated thyrotropin-releasing factor deficiency]",,[275120],,,,,,,, +GARD:17180,Active,Orphanet,ORPHA:238744,Disorder,[Malformation syndrome],Mammary-digital-nail syndrome,"[MDN syndrome, Onycho-digito-mammary syndrome]","Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.",[613689],,,,,,,, +GARD:17181,Active,Orphanet,ORPHA:238750,Disorder,[Malformation syndrome],4q21 microdeletion syndrome,"[Del(4)(q21), Monosomy 4q21]","The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.",[613509],,,,,,,, +GARD:17182,Active,Orphanet,ORPHA:240071,Subtype of disorder,[Clinical subtype],Classic progressive supranuclear palsy syndrome,"[Classic PSP syndrome, Richardson syndrome, Steele-Richardson-Olszewski disease]","A classical form of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by slowing of vertical saccadic eye movements, falls due to postural instability, axial akinetic-rigid syndrome, and cognitive impairment. Difficulties in speech and swallowing may develop.","[601104, 610898, 609454]",,,,,,,, +GARD:17183,Active,Orphanet,ORPHA:240085,Subtype of disorder,[Clinical subtype],Progressive supranuclear palsy-parkinsonism syndrome,"[PSP-p, PSP-parkinsonism]","An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP.",[260540],,,,,,,, +GARD:17184,Active,Orphanet,ORPHA:240760,Disorder,[Malformation syndrome],Nijmegen breakage syndrome-like disorder,"[Microcephaly and chromosomal instability without immunodeficiency, NBS-like disorder, NBSLD, RAD50 deficiency]","Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.",[613078],,,,,,,, +GARD:17185,Active,Orphanet,ORPHA:243343,Disorder,[Disease],Dimethylglycine dehydrogenase deficiency,"[DMG dehydrogenase deficiency, DMGDH deficiency]",Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.,[605850],,,,,,,, +GARD:17186,Active,Orphanet,ORPHA:244305,Disorder,[Disease],Dominant hypophosphatemia with nephrolithiasis or osteoporosis,,"A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.","[612286, 612287]",,,,,,,, +GARD:17187,Active,Orphanet,ORPHA:247198,Disorder,[Disease],Progressive cerebello-cerebral atrophy,[PCCA],"A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter, but no pontine involvement.",[615851],,,,,,,, +GARD:17188,Active,Orphanet,ORPHA:247262,Disorder,[Disease],Hyperphosphatasia-intellectual disability syndrome,[Mabry syndrome],"A rare, congenital disorder of glycosylation-related bone disorder characterized by hypotonia, severe developmental delay, intellectual disability, seizures, increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and dysmorphic facial features. In some cases, cleft palate, megacolon, anorectal malformations, and congenital heart defects have been reported.","[615716, 616025, 614207, 616809, 614749, 239300]",,,,,,,, +GARD:17189,Active,Orphanet,ORPHA:247511,Disorder,[Disease],Autosomal dominant secondary polycythemia,[Autosomal dominant secondary erythrocytosis],"A rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.","[611783, 609820]",,,,,,,, +GARD:17190,Active,Orphanet,ORPHA:247522,Disorder,[Disease],Primary ciliary dyskinesia-retinitis pigmentosa syndrome,,"Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.",[300455],,,,,,,, +GARD:17191,Active,Orphanet,ORPHA:247623,Subtype of disorder,[Clinical subtype],Perinatal lethal hypophosphatasia,"[Perinatal lethal Rathbun disease, Perinatal lethal phosphoethanolaminuria]","A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.",[241500],,,,,,,, +GARD:17192,Active,Orphanet,ORPHA:247651,Subtype of disorder,[Clinical subtype],Infantile hypophosphatasia,"[Infantile Rathbun disease, Infantile phosphoethanolaminuria]","A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.",[241500],,,,,,,, +GARD:17193,Active,Orphanet,ORPHA:247676,Subtype of disorder,[Clinical subtype],Adult hypophosphatasia,"[Adult Rathbun disease, Adult phosphoethanolaminuria]","A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies.",[146300],,,,,,,, +GARD:17194,Active,Orphanet,ORPHA:247685,Subtype of disorder,[Clinical subtype],Odontohypophosphatasia,,"A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.",[146300],,,,,,,, +GARD:17195,Active,Orphanet,ORPHA:247768,Disorder,[Malformation syndrome],Müllerian aplasia and hyperandrogenism,"[Müllerian duct failure and hyperandrogenism, WNT4 deficiency]","A rare syndrome with 46,XX disorder of sex development characterized by Müllerian duct hypoplasia or agenesis associated with clinical and biological evidence of hyperandrogenism in 46,XX females. Patients present with hypoplastic or absent uterus, variable abnormalities of other reproductive organs, primary amenorrhea, acne, hirsutism, and sometimes renal anomalies. External genitalia and secondary sexual characteristics are normal. Hormonal analysis shows variably elevated serum levels of androstenedione, dehydroepiandrosterone, and/or total and free testosterone.",[158330],,,,,,,, +GARD:17196,Active,Orphanet,ORPHA:247794,Disorder,[Disease],Juvenile cataract-microcornea-renal glucosuria syndrome,[Juvenile cataract-microcornea-renal glycosuria syndrome],"Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.",[612018],,,,,,,, +GARD:17197,Active,Orphanet,ORPHA:247806,Subtype of disorder,[Clinical subtype],APC-related attenuated familial adenomatous polyposis,"[APC-related AFAP, APC-related attenuated FAP, APC-related attenuated familial polyposis coli]",,[175100],,,,,,,, +GARD:17198,Active,Orphanet,ORPHA:247820,Disorder,[Malformation syndrome],Ectodermal dysplasia-syndactyly syndrome,"[EDSS, EDSS1]","Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.",[613573],,,,,,,, +GARD:17199,Active,Orphanet,ORPHA:247827,Disorder,[Malformation syndrome],Ectodermal dysplasia-cutaneous syndactyly syndrome,"[EDCS, EDSS2]",,[613576],,,,,,,, +GARD:172,Active,Orphanet,ORPHA:2427,Disorder,[Malformation syndrome],Macrocephaly-short stature-paraplegia syndrome,[Volcke-Soekarman syndrome],"A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.",,,,,,Macrocephaly-short stature-paraplegia syndrome,TRUE,FALSE,Active +GARD:1720,Legacy,GARD,,,,,,,,,,,,Defective apolipoprotein B-100,TRUE,FALSE,Active +GARD:17200,Active,Orphanet,ORPHA:247834,Disorder,[Disease],Occult macular dystrophy,"[OCMD, OMD]","Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.",[613587],,,,,,,, +GARD:17201,Active,Orphanet,ORPHA:247868,Disorder,[Disease],NLRP12-associated hereditary periodic fever syndrome,"[FCAS2, Familial cold autoinflammatory syndrome type 2, NAPS12]","NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.",[611762],,,,,,,, +GARD:17202,Active,Orphanet,ORPHA:248408,Subtype of disorder,[Clinical subtype],Familial hypodysfibrinogenemia,,,[616004],,,,,,,, +GARD:17203,Active,Orphanet,ORPHA:250984,Subtype of disorder,[Clinical subtype],Autosomal recessive Stickler syndrome,,"A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.","[614134, 614284]",,,,,,,, +GARD:17204,Active,Orphanet,ORPHA:251028,Subtype of disorder,[Etiological subtype],SATB2-associated syndrome due to a chromosomal rearrangement,"[2q33.1 microdeletion syndrome, Del(2)(q33.1), Monosomy 2q33.1]",,[612313],,,,,,,, +GARD:17205,Active,Orphanet,ORPHA:251279,Disorder,[Disease],Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,[Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome],"Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.",[611040],,,,,,,, +GARD:17206,Active,Orphanet,ORPHA:251282,Disorder,[Disease],Autosomal dominant spastic ataxia type 1,[SPAX1],"A rare, genetic, autosomal dominant spastic ataxia disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances.",[108600],,,,,,,, +GARD:17207,Active,Orphanet,ORPHA:251290,Disorder,[Malformation syndrome],Parietal foramina with clavicular hypoplasia,[Parietal foramina with cleidocranial dysplasia],"A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.",[168550],,,,,,,, +GARD:17208,Active,Orphanet,ORPHA:251295,Disorder,[Disease],Pigmented paravenous retinochoroidal atrophy,[PPRCA],"Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.",[172870],,,,,,,, +GARD:17209,Active,Orphanet,ORPHA:251347,Disorder,[Disease],Ataxia-telangiectasia-like disorder,[ATLD],"A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent.",[604391],,,,,,,, +GARD:17210,Active,Orphanet,ORPHA:251383,Disorder,[Malformation syndrome],CK syndrome,[X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome],"CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.",[300831],,,,,,,, +GARD:17211,Active,Orphanet,ORPHA:251510,Disorder,[Malformation syndrome],"46,XY partial gonadal dysgenesis","[46,XY PGD, 46,XY partial testicular dysgenesis]","46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.","[300018, 612965, 616425, 616067, 154230, 613762, 615542]",,,,,,,, +GARD:17212,Active,Orphanet,ORPHA:251515,Disorder,[Malformation syndrome],Distal arthrogryposis type 10,"[DA10, Plantar flexion contracture, Short Achilles tendon, Short tendo calcaneus]","A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.",[187370],,,,,,,, +GARD:17213,Active,Orphanet,ORPHA:251523,Disorder,[Disease],Hyperzincemia and hypercalprotectinemia,"[Hz/Hc, PAMI syndrome, PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome]","A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.",[194470],,,,,,,, +GARD:17214,Active,Orphanet,ORPHA:251858,Subtype of disorder,[Histopathological subtype],Medulloblastoma with extensive nodularity,[MBEN],"Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma (see this term), an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome (see this term) and has a relatively good prognosis.",[155255],,,,,,,, +GARD:17215,Active,Orphanet,ORPHA:251863,Subtype of disorder,[Histopathological subtype],Desmoplastic/nodular medulloblastoma,,"Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.",[155255],,,,,,,, +GARD:17216,Active,Orphanet,ORPHA:251867,Subtype of disorder,[Histopathological subtype],Classic medulloblastoma,,"Classic medulloblastoma is a histological variant of medulloblastoma (see this term) ,an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.",[155255],,,,,,,, +GARD:17217,Active,Orphanet,ORPHA:252202,Disorder,[Disease],Constitutional mismatch repair deficiency syndrome,[CMMR-D syndrome],"Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.","[276300, 619096, 619097, 619101]",,,,,,,, +GARD:17218,Active,Orphanet,ORPHA:254351,Disorder,[Malformation syndrome],Distal 7q11.23 microdeletion syndrome,"[Distal del(7)(q11.23), Distal monosomy 7q11.23]","Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).",[613729],,,,,,,, +GARD:17219,Active,Orphanet,ORPHA:254519,Disorder,[Malformation syndrome],Kagami-Ogata syndrome,[KOS],"Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.",[608149],,,,,,,, +GARD:1722,Active,Orphanet,ORPHA:315,Disorder,[Disease],Erythrokeratoderma ''en cocardes'',"[Degos genodermatosis ""en cocardes""]","A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.",,,,,,Erythrokeratoderma ''en cocardes'',TRUE,FALSE,Active +GARD:17220,Active,Orphanet,ORPHA:254525,Subtype of disorder,[Etiological subtype],Temple syndrome due to paternal 14q32.2 microdeletion,[Paternal del(14)(q32.2)],,[616222],,,,,,,, +GARD:17221,Active,Orphanet,ORPHA:254528,Subtype of disorder,[Etiological subtype],Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,"[Maternal del(14)(q32.2), Maternal monosomy 14q32.2]",,[608149],,,,,,,, +GARD:17222,Active,Orphanet,ORPHA:254531,Subtype of disorder,[Etiological subtype],Temple syndrome due to paternal 14q32.2 hypomethylation,,,[616222],,,,,,,, +GARD:17223,Active,Orphanet,ORPHA:254534,Subtype of disorder,[Etiological subtype],Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,,,[608149],,,,,,,, +GARD:17224,Active,Orphanet,ORPHA:254688,Subtype of disorder,[Clinical subtype],Complete hydatidiform mole,[Complete molar pregnancy],"A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.","[614293, 618432, 231090, 618431]",,,,,,,, +GARD:17225,Active,Orphanet,ORPHA:254803,Group of disorders,[Clinical group],"Mitochondrial DNA depletion syndrome, encephalomyopathic form","[mtDNA depletion syndrome, encephalomyopathic form]","Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.","[612073, 612075]",,,,,,,, +GARD:17226,Active,Orphanet,ORPHA:254857,Disorder,[Disease],Lethal infantile mitochondrial myopathy,"[LIMD, LIMM, Lethal infantile mitochondrial disease]","Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.",[551000],,,,,,,, +GARD:17227,Active,Orphanet,ORPHA:254864,Disorder,[Disease],Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,"[Benign COX deficiency, Infantile reversible cytochrome C oxidase deficiency myopathy, Mitochondrial myopathy with reversible COX deficiency, Mitochondrial myopathy with reversible complex IV deficiency, Reversible infantile cytochrome C oxidase deficiency, Reversible infantile respiratory chain deficiency]","A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.",[500009],,,,,,,, +GARD:17228,Active,Orphanet,ORPHA:254875,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, myopathic form","[mtDNA depletion syndrome, myopathic form]","A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.","[609560, 618972]",,,,,,,, +GARD:17229,Active,Orphanet,ORPHA:254881,Disorder,[Disease],Spinocerebellar ataxia with epilepsy,"[MSCAE, Mitochondrial spinocerebellar ataxia with epilepsy, SCAE]","Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.",[607459],,,,,,,, +GARD:17230,Active,Orphanet,ORPHA:254898,Disorder,[Disease],Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,[Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome],"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.",[614651],,,,,,,, +GARD:17231,Active,Orphanet,ORPHA:254902,Disorder,[Disease],Renal tubulopathy-encephalopathy-liver failure syndrome,,Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders.,[124000],,,,,,,, +GARD:17232,Active,Orphanet,ORPHA:254920,Disorder,[Disease],Combined oxidative phosphorylation defect type 2,[COXPD2],"Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.",[610498],,,,,,,, +GARD:17233,Active,Orphanet,ORPHA:254925,Disorder,[Disease],Combined oxidative phosphorylation defect type 4,[COXPD4],"Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.",[610678],,,,,,,, +GARD:17234,Active,Orphanet,ORPHA:254930,Disorder,[Disease],Combined oxidative phosphorylation defect type 7,"[COXPD7, Severe C12ORF65-related COXPD, Severe C12ORF65-related combined oxidative phosphorylation defect]","Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.",[613559],,,,,,,, +GARD:17235,Active,Orphanet,ORPHA:255132,Disorder,[Disease],Adult-onset autosomal recessive sideroblastic anemia,[GLRX5-related sideroblastic anemia],A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.,[616860],,,,,,,, +GARD:17236,Active,Orphanet,ORPHA:255138,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E1-beta deficiency,"[PDHBD, Pyruvate dehydrogenase complex E1 component subunit beta deficiency]","Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia.",[614111],,,,,,,, +GARD:17237,Active,Orphanet,ORPHA:255182,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E3-binding protein deficiency,"[2-oxoglutarate complex deficiency, Branched chain alpha-ketoacid dehydrogenase complex deficiency, Diaphorase deficiency, Dihydrolipoyl dehydrogenase deficiency, Glycine cleavage system L protein deficiency, Lipoamide dehydrogenase deficiency, Pyruvate dehydrogenase complex component E3 deficiency, Pyruvate dehydrogenase protein X component deficiency]","Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.",[245349],,,,,,,, +GARD:17238,Active,Orphanet,ORPHA:255241,Disorder,[Disease],Leigh syndrome with leukodystrophy,"[Infantile subacute necrotizing encephalopathy with leukodystrophy, Leigh disease with leukodystrophy]",,"[618249, 618228, 618243, 618235, 618229, 618222, 256000, 618244, 616277, 618230, 618224, 252010, 618239, 618233, 618225, 618240, 618226, 618241, 618248, 618257]",,,,,,,, +GARD:17239,Active,Orphanet,ORPHA:255249,Disorder,[Disease],Leigh syndrome with nephrotic syndrome,"[Infantile subacute necrotizing encephalopathy with nephrotic syndrome, Leigh disease with nephrotic syndrome]","A rare, genetic neurometabolic disease characterized by encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral, symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome.","[607426, 614652]",,,,,,,, +GARD:17240,Active,Orphanet,ORPHA:260305,Disorder,[Disease],Autosomal recessive sideroblastic anemia,"[ARSA, Congenital sideroblastic anemia]","Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.","[205950, 182170]",,,,,,,, +GARD:17241,Active,Orphanet,ORPHA:261120,Disorder,[Malformation syndrome],14q11.2 microdeletion syndrome,"[Del(14)(q11.2), Monosomy 14q11.2]","14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.",[613457],,,,,,,, +GARD:17242,Active,Orphanet,ORPHA:261190,Disorder,[Malformation syndrome],15q14 microdeletion syndrome,"[Del(15)(q14), Monosomy 15q14]","15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.",[616898],,,,,,,, +GARD:17243,Active,Orphanet,ORPHA:261211,Disorder,[Malformation syndrome],16p11.2p12.2 microdeletion syndrome,"[Del(16)(p11.2p12.2), Monosomy 16p11.2p12.2]",16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.,[613604],,,,,,,, +GARD:17244,Active,Orphanet,ORPHA:261222,Disorder,[Malformation syndrome],Distal 16p11.2 microdeletion syndrome,"[Distal del(16)(p11.2), Distal monosomy 16p11.2]","Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.",[613444],,,,,,,, +GARD:17245,Active,Orphanet,ORPHA:261330,Disorder,[Malformation syndrome],Distal 22q11.2 microdeletion syndrome,"[Distal del(22)(q11.2), Distal monosomy 22q11.2]","A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the SMARCB1 gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are de novo .",[611867],,,,,,,, +GARD:17246,Active,Orphanet,ORPHA:261476,Disorder,[Disease],Xp21 deletion syndrome,"[Complex GKD, Complex glycerol kinase deficiency, Del(X)(p21), Xp21 contiguous gene deletion syndrome, Xp21 microdeletion syndrome]","A rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.",[300679],,,,,,,, +GARD:17247,Active,Orphanet,ORPHA:261483,Disorder,[Malformation syndrome],Xq27.3q28 duplication syndrome,"[Dup(X)(q27.3q28), Trisomy Xq27.3-q28, Trisomy Xq27.3q28, Xq27.3-q28 microduplication syndrome]","Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.",[300869],,,,,,,, +GARD:17248,Active,Orphanet,ORPHA:261537,Subtype of disorder,[Etiological subtype],Mowat-Wilson syndrome due to monosomy 2q22,"[Hirschsprung disease and intellectual disability due to 2q22 microdeletion, Hirschsprung disease and intellectual disability due to del(2)(q22), Hirschsprung disease and intellectual disability due to monosomy 2q22, Mowat-Wilson syndrome due to 2q22 microdeletion, Mowat-Wilson syndrome due to del(2)q(22)]",,[235730],,,,,,,, +GARD:17249,Active,Orphanet,ORPHA:261552,Subtype of disorder,[Etiological subtype],Mowat-Wilson syndrome due to a ZEB2 point mutation,[Hirschsprung disease and intellectual disability due to a ZEB2 point mutation],,[235730],,,,,,,, +GARD:17250,Active,Orphanet,ORPHA:261600,Subtype of disorder,[Etiological subtype],Alagille syndrome due to 20p12 microdeletion,"[Alagille syndrome due to del(20)(p12), Alagille syndrome due to monosomy 20p12, Alagille-Watson syndrome due to monosomy 20p12, Arteriohepatic dysplasia due to monosomy 20p12, Syndromic bile duct paucity due to monosomy 20p12]",,[118450],,,,,,,, +GARD:17251,Active,Orphanet,ORPHA:261619,Subtype of disorder,[Etiological subtype],Alagille syndrome due to a JAG1 point mutation,"[Alagille-Watson syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia due to a JAG1 point mutation, Syndromic bile duct paucity due to a JAG1 point mutation]",,[118450],,,,,,,, +GARD:17252,Active,Orphanet,ORPHA:261629,Subtype of disorder,[Etiological subtype],Alagille syndrome due to a NOTCH2 point mutation,"[Alagille-Watson syndrome due to a NOTCH2 point mutation, Arteriohepatic dysplasia due to a NOTCH2 point mutation, Syndromic bile duct paucity due to a NOTCH2 point mutation]",,[610205],,,,,,,, +GARD:17253,Active,Orphanet,ORPHA:261652,Subtype of disorder,[Etiological subtype],Kleefstra syndrome due to a point mutation,,,"[617768, 610253]",,,,,,,, +GARD:17254,Active,Orphanet,ORPHA:263297,Disorder,[Disease],Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,"[GSD type 15, GSD type XV, GSD with severe cardiomyopathy due to glycogenin deficiency, Glycogen storage disease type 15, Glycogen storage disease type XV, Glycogenosis type 15, Glycogenosis type XV, Glycogenosis with severe cardiomyopathy due to glycogenin deficiency]","Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.",[613507],,,,,,,, +GARD:17255,Active,Orphanet,ORPHA:263347,Disorder,[Disease],MRCS syndrome,[Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome],"MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.","[619082, 193220]",,,,,,,, +GARD:17256,Active,Orphanet,ORPHA:263458,Disorder,[Disease],Hyperinsulinism due to INSR deficiency,"[Hyperinsulinemic hypoglycemia due to INSR deficiency, Hyperinsulinemic hypoglycemia due to insulin receptor deficiency]","Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.",[609968],,,,,,,, +GARD:17257,Active,Orphanet,ORPHA:263524,Disorder,[Disease],Acute necrotizing encephalopathy of childhood,"[ANEC, Isolated ANE, Isolated acute necrotizing encephalopathy]","A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.",[614212],,,,,,,, +GARD:17258,Active,Orphanet,ORPHA:263548,Subtype of disorder,[Clinical subtype],Peeling skin syndrome type A,"[Generalized deciduous skin type A, Generalized peeling skin syndrome type A, Non-inflammatory generalized peeling skin syndrome type A., Non-inflammatory peeling skin syndrome type A, PSS type A]","Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin.","[616265, 618084]",,,,,,,, +GARD:17259,Active,Orphanet,ORPHA:263553,Subtype of disorder,[Clinical subtype],Peeling skin syndrome type B,"[Generalized deciduous skin type B, Generalized peeling skin syndrome type B, Inflammatory peeling skin syndrome, PSS type B]","Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.",[270300],,,,,,,, +GARD:17260,Active,Orphanet,ORPHA:263662,Disorder,[Disease],Familial multiple meningioma,,"Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.",[607174],,,,,,,, +GARD:17261,Active,Orphanet,ORPHA:264580,Disorder,[Disease],Glycogen storage disease due to liver phosphorylase kinase deficiency,"[GSD due to liver phosphorylase kinase deficiency, GSD type 9A, GSD type 9C, GSD type IXa, GSD type IXc, Glycogen storage disease type 9A, Glycogen storage disease type 9C, Glycogen storage disease type IXa, Glycogen storage disease type IXc, Glycogenosis due to liver phosphorylase kinase deficiency, Glycogenosis type 9A, Glycogenosis type 9C, Glycogenosis type IXa, Glycogenosis type IXc, XLG]","Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.","[613027, 306000]",,,,,,,, +GARD:17262,Active,Orphanet,ORPHA:268114,Disorder,[Disease],RAS-associated autoimmune leukoproliferative disease,[RALD],"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.",[614470],,,,,,,, +GARD:17263,Active,Orphanet,ORPHA:268145,Subtype of disorder,[Clinical subtype],Classic maple syrup urine disease,"[Classic BCKD deficiency, Classic MSUD, Classic branched-chain alpha-ketoacid dehydrogenase deficiency, Classic branched-chain ketoaciduria]","Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.",[248600],,,,,,,, +GARD:17264,Active,Orphanet,ORPHA:268162,Subtype of disorder,[Clinical subtype],Intermediate maple syrup urine disease,"[Intermediate BCKD deficiency, Intermediate MSUD, Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency]","Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.","[248600, 615135]",,,,,,,, +GARD:17265,Active,Orphanet,ORPHA:268173,Subtype of disorder,[Clinical subtype],Intermittent maple syrup urine disease,"[Intermittent BCKD deficiency, Intermittent MSUD, Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency]","Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.",[248600],,,,,,,, +GARD:17266,Active,Orphanet,ORPHA:268184,Subtype of disorder,[Clinical subtype],Thiamine-responsive maple syrup urine disease,"[Thiamine-responsive BCKD deficiency, Thiamine-responsive MSUD, Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency]",Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine.,[248600],,,,,,,, +GARD:17267,Active,Orphanet,ORPHA:268322,Disorder,[Disease],Hereditary thrombocytopenia with normal platelets,,"A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.","[273900, 612004, 313900, 188000]",,,,,,,, +GARD:17268,Active,Orphanet,ORPHA:268357,Group of disorders,[Category],Neural tube closure defect,,,"[601634, 301410, 182940]",,,,,,,, +GARD:17269,Active,Orphanet,ORPHA:268940,Disorder,[Morphological anomaly],Bilateral polymicrogyria,,"Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.","[615752, 606854, 612691, 616531, 300388]",,,,,,,, +GARD:1727,Active,Orphanet,ORPHA:3034,Disorder,[Malformation syndrome],Delayed membranous cranial ossification,[Gonzales-del Angel syndrome],"Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.",[155980],,,,,Delayed membranous cranial ossification,TRUE,FALSE,Active +GARD:17270,Active,Orphanet,ORPHA:269001,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type IIa,[FCD type IIa],,[607341],,,,,,,, +GARD:17271,Active,Orphanet,ORPHA:269008,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type IIb,[FCD type IIb],,[607341],,,,,,,, +GARD:17272,Active,Orphanet,ORPHA:269510,Subtype of disorder,[Clinical subtype],Congenital non-communicating hydrocephalus,[Congenital obstructive hydrocephalus],,[236600],,,,,,,, +GARD:17273,Active,Orphanet,ORPHA:275872,Disorder,[Disease],Frontotemporal dementia with motor neuron disease,"[FTD-ALS, FTD-MND, Frontotemporal dementia with amyotrophic lateral sclerosis]","Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.","[612069, 619133, 616439, 613954, 608030, 616437, 619141, 615911, 105550]",,,,,,,, +GARD:17274,Active,Orphanet,ORPHA:276148,Disorder,[Disease],Benign epithelial tumor of salivary glands,,"Benign epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction.",[181030],,,,,,,, +GARD:17275,Active,Orphanet,ORPHA:276152,Disorder,[Disease],Multiple endocrine neoplasia type 4,[MEN4],"Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.",[610755],,,,,,,, +GARD:17276,Active,Orphanet,ORPHA:276183,Disorder,[Disease],Spinocerebellar ataxia type 32,"[Cerebellar ataxia with azoospermia and intellectual disability, SCA32]",An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.,[613909],,,,,,,, +GARD:17277,Active,Orphanet,ORPHA:276234,Disorder,[Disease],Non-syndromic male infertility due to sperm motility disorder,[Non-syndromic male infertility due asthenozoospermia],"Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.","[618751, 606766, 618664, 618643, 618745, 617576, 617592, 618433, 612997, 618152, 617593, 618153, 617965, 618429, 614822, 618670]",,,,,,,, +GARD:17278,Active,Orphanet,ORPHA:276399,Disorder,[Disease],Familial multinodular goiter,"[FMNG, Familial MNG, Familial multinodular goiter syndrome]",,[138800],,,,,,,, +GARD:17279,Active,Orphanet,ORPHA:276405,Disorder,[Disease],Hyperbiliverdinemia,[Green jaundice],"Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.",[614156],,,,,,,, +GARD:17280,Active,Orphanet,ORPHA:276413,Disorder,[Malformation syndrome],10q22.3q23.3 microdeletion syndrome,"[Del(10)(q22.3q23.3), Deletion 10q22.3q23.3, Monosomy 10q22.3q23.3]","10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.",[612242],,,,,,,, +GARD:17281,Active,Orphanet,ORPHA:276432,Disorder,[Malformation syndrome],Ogden syndrome,[Premature aging appearance-developmental delay-cardiac arrhythmia syndrome],"Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.",[300855],,,,,,,, +GARD:17282,Active,Orphanet,ORPHA:276435,Disorder,[Disease],Lower motor neuron syndrome with late-adult onset,"[LOSMoN, Late-onset spinal motor neuronopathy, SMAJ, Spinal muscular atrophy, Jokela type]","A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.",[615048],,,,,,,, +GARD:17283,Active,Orphanet,ORPHA:276575,Disorder,[Disease],Autosomal dominant hyperinsulinism due to SUR1 deficiency,[Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency],"A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.",[256450],,,,,,,, +GARD:17284,Active,Orphanet,ORPHA:276580,Disorder,[Disease],Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,"[Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, Dominant KATP hyperinsulinism due to Kir6.2 deficiency]","A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).",[601820],,,,,,,, +GARD:17285,Active,Orphanet,ORPHA:276598,Disorder,[Disease],Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,"[Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form]","A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.",[256450],,,,,,,, +GARD:17286,Active,Orphanet,ORPHA:276603,Disorder,[Disease],Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,"[Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form]","A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.",[601820],,,,,,,, +GARD:17287,Active,Orphanet,ORPHA:279943,Disorder,[Disease],Hereditary neutrophilia,,"A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.",[162830],,,,,,,, +GARD:17288,Active,Orphanet,ORPHA:280142,Disorder,[Disease],Severe combined immunodeficiency due to LCK deficiency,"[SCID due to LCK deficiency, SCID due to lymphocyte-specific protein tyrosine kinase deficiency, Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency]","A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.",[615758],,,,,,,, +GARD:17289,Active,Orphanet,ORPHA:280195,Subtype of disorder,[Clinical subtype],Septopreoptic holoprosencephaly,[Septopreoptic HPE],"A rare subtype of holoprosencephaly characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. Midline craniofacial malformations are generally mild and include solitary median maxillary incisor and pyriform sinus stenosis. Other reported manifestations include language delay, learning difficulties, and behavioral disorders. Imaging reveals abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery.","[609637, 610829, 157170]",,,,,,,, +GARD:17290,Active,Orphanet,ORPHA:280200,Disorder,[Malformation syndrome],Microform holoprosencephaly,"[HPE, minor form, HPE-L, Holoprosencephaly, minor form, Holoprosencephaly-like, Microform HPE]","A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.","[609637, 610829, 147250, 157170]",,,,,,,, +GARD:17291,Active,Orphanet,ORPHA:280210,Subtype of disorder,[Clinical subtype],"Pelizaeus-Merzbacher disease, connatal form","[Connatal PMD, Pelizaeus-Merzbacher disease type II, Severe PMD]",The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term).,[312080],,,,,,,, +GARD:17292,Active,Orphanet,ORPHA:280234,Subtype of disorder,[Clinical subtype],Null syndrome,"[PLP1 null syndrome, Pelizaeus-Merzbacher disease, null syndrome]",The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.,[312080],,,,,,,, +GARD:17293,Active,Orphanet,ORPHA:280282,Subtype of disorder,[Clinical subtype],Pelizaeus-Merzbacher-like disease due to GJC2 mutation,[PMLD1],,[608804],,,,,,,, +GARD:17294,Active,Orphanet,ORPHA:280288,Subtype of disorder,[Clinical subtype],Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,[Mitochondrial HSP60 chaperonopathy],,[612233],,,,,,,, +GARD:17295,Active,Orphanet,ORPHA:280406,Disorder,[Disease],Familial steroid-resistant nephrotic syndrome with sensorineural deafness,[Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss],"Familial steroid-resistant nephrotic syndrome with sensorineural deafness is a rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.",[614650],,,,,,,, +GARD:17296,Active,Orphanet,ORPHA:280553,Disorder,[Disease],Fatal infantile hypertonic myofibrillar myopathy,,"Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.",[613869],,,,,,,, +GARD:17297,Active,Orphanet,ORPHA:280615,Disorder,[Disease],Hemoglobinopathy Toms River,[Transient neonatal cyanosis and anemia due to Toms River Hemoglobin],"Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.",[613977],,,,,,,, +GARD:17298,Active,Orphanet,ORPHA:280628,Disorder,[Disease],Familial progressive hyper- and hypopigmentation,[FPHH],"Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.",[145250],,,,,,,, +GARD:17299,Active,Orphanet,ORPHA:280640,Disorder,[Malformation syndrome],Occipital pachygyria and polymicrogyria,"[Occipital MCD, Occipital malformations of cortical development]","Occipital pachygyria and polymicrogyria is a rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.",[614115],,,,,,,, +GARD:173,Legacy,GARD,,,,,,,,,,,,"Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance",TRUE,FALSE,Active +GARD:17300,Active,Orphanet,ORPHA:280651,Disorder,[Disease],Acrodysostosis with multiple hormone resistance,,,"[614613, 101800]",,,,,,,, +GARD:17301,Active,Orphanet,ORPHA:280679,Disorder,[Disease],Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,[Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism],"Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.",[300845],,,,,,,, +GARD:17302,Active,Orphanet,ORPHA:281090,Disorder,[Disease],Syndromic recessive X-linked ichthyosis,"[Recessive X-linked ichthyosis with extracutaneous manifestations, Syndromic RXLI]",Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.,[308100],,,,,,,, +GARD:17303,Active,Orphanet,ORPHA:281122,Disorder,[Disease],Self-improving collodion baby,"[SHCB, SICI, Self-healing collodion baby, Self-improving congenital ichthyosis]",Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.,"[242300, 606545, 242100]",,,,,,,, +GARD:17304,Active,Orphanet,ORPHA:281139,Disorder,[Disease],Annular epidermolytic ichthyosis,[AEI],A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.,[607602],,,,,,,, +GARD:17305,Active,Orphanet,ORPHA:281190,Disorder,[Disease],Congenital reticular ichthyosiform erythroderma,"[CRIE, IWC, Ichthyosis variegata, Ichthyosis with confetti]",,[609165],,,,,,,, +GARD:17306,Active,Orphanet,ORPHA:281201,Disorder,[Disease],Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,[KLICK syndrome],"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.",[601952],,,,,,,, +GARD:17307,Active,Orphanet,ORPHA:282166,Disorder,[Disease],Inherited Creutzfeldt-Jakob disease,[Inherited CJD],"A rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.",[123400],,,,,,,, +GARD:17308,Active,Orphanet,ORPHA:284139,Disorder,[Malformation syndrome],"Larsen-like syndrome, B3GAT3 type",[Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome],"Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.",[245600],,,,,,,, +GARD:17309,Active,Orphanet,ORPHA:284149,Disorder,[Malformation syndrome],Craniosynostosis-dental anomalies,[Kreiborg-Pakistani syndrome],"Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.",[614188],,,,,,,, +GARD:17310,Active,Orphanet,ORPHA:284160,Disorder,[Malformation syndrome],8q21.11 microdeletion syndrome,"[Del(8)(q21.11), Deletion 8q21.11, Monosomy 8q21.11]","8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.",[614230],,,,,,,, +GARD:17311,Active,Orphanet,ORPHA:284169,Subtype of disorder,[Clinical subtype],Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,"[10p12p11 microdeletion syndrome, Del(10)(p11.21p12.31), Deletion 10p11.21p12.31, Monosomy 10p11.21p12.31]","Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion is a rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.",[616708],,,,,,,, +GARD:17312,Active,Orphanet,ORPHA:284271,Disorder,[Disease],Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,"[Autosomal recessive spinocerebellar ataxia type 11, SCAR11]","A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.",[614229],,,,,,,, +GARD:17313,Active,Orphanet,ORPHA:284282,Disorder,[Disease],Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,"[Autosomal recessive spinocerebellar ataxia type 12, SCAR12]","A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.",[614322],,,,,,,, +GARD:17314,Active,Orphanet,ORPHA:284289,Disorder,[Disease],Adult-onset autosomal recessive cerebellar ataxia,"[Autosomal recessive spinocerebellar ataxia type 10, SCAR10]","A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement.",[613728],,,,,,,, +GARD:17315,Active,Orphanet,ORPHA:284339,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 7,"[PCH7, Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome]","Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.",[614969],,,,,,,, +GARD:17316,Active,Orphanet,ORPHA:284411,Subtype of disorder,[Clinical subtype],"Glycerol kinase deficiency, juvenile form",,"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.",[307030],,,,,,,, +GARD:17317,Active,Orphanet,ORPHA:284414,Subtype of disorder,[Clinical subtype],"Glycerol kinase deficiency, adult form",,A rare form of glycerol kinase deficiency (GKD) characterized by pseudohypertriglyceridemia in otherwise healthy adults and diagnosed fortuitously.,[307030],,,,,,,, +GARD:17318,Active,Orphanet,ORPHA:284973,Subtype of disorder,[Clinical subtype],Marfan syndrome type 2,[MFS2],,[610168],,,,,,,, +GARD:17319,Active,Orphanet,ORPHA:289157,Disorder,[Disease],Hypocalcemic vitamin D-dependent rickets,"[1-alpha-hydroxylase deficiency, PDDRI, Pseudovitamin D-deficient rickets, VDDI, VDDR-I, Vitamin D dependent rickets type I, Vitamin D-dependency type I]","An early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.","[264700, 600081]",,,,,,,, +GARD:1732,Legacy,GARD,,,,,,,,,,,,Chromosome 11p deletion,TRUE,FALSE,Active +GARD:17320,Active,Orphanet,ORPHA:289176,Disorder,[Disease],Autosomal recessive hypophosphatemic rickets,[ARHR],"A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.","[241520, 613312]",,,,,,,, +GARD:17321,Active,Orphanet,ORPHA:289290,Disorder,[Disease],Hypermethioninemia encephalopathy due to adenosine kinase deficiency,"[ADK hypermethioninemia, Hypermethioninemia encephalopathy due to ADK deficiency]","Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.",[614300],,,,,,,, +GARD:17322,Active,Orphanet,ORPHA:289307,Disorder,[Disease],Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,"[Developmental delay due to ALDH6A1 deficiency, Developmental delay due to MMSDH deficiency]","Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.",[614105],,,,,,,, +GARD:17323,Active,Orphanet,ORPHA:289365,Disorder,[Malformation syndrome],Familial vesicoureteral reflux,[Familial VUR],"Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.","[614319, 615390, 610878, 193000, 613674, 614317, 614318, 615963]",,,,,,,, +GARD:17324,Active,Orphanet,ORPHA:289377,Disorder,[Disease],Early-onset myopathy with fatal cardiomyopathy,"[EOMFC, Salih myopathy]","A rare genetic neuromuscular disease characterized by neonatal or infancy onset of delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life.",[611705],,,,,,,, +GARD:17325,Active,Orphanet,ORPHA:289380,Disorder,[Disease],Myosclerosis,"[Congenital myosclerosis, Löwenthal type]","Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.",[255600],,,,,,,, +GARD:17326,Active,Orphanet,ORPHA:289483,Disorder,[Disease],Intellectual disability-alacrima-achalasia syndrome,,"Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.",[300858],,,,,,,, +GARD:17327,Active,Orphanet,ORPHA:289499,Disorder,[Malformation syndrome],Congenital cataract microcornea with corneal opacity,[CCMCO],,[269400],,,,,,,, +GARD:17328,Active,Orphanet,ORPHA:289553,Disorder,[Malformation syndrome],Dysmorphism-conductive hearing loss-heart defect syndrome,,"Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.",[615102],,,,,,,, +GARD:17329,Active,Orphanet,ORPHA:289586,Disorder,[Disease],Exfoliative ichthyosis,"[Autosomal recessive exfoliative ichthyosis, Ichthyosis exfoliativa]","Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.","[617115, 607936]",,,,,,,, +GARD:17330,Active,Orphanet,ORPHA:289846,Subtype of disorder,[Clinical subtype],Glutathione synthetase deficiency with 5-oxoprolinuria,,,[266130],,,,,,,, +GARD:17331,Active,Orphanet,ORPHA:289849,Subtype of disorder,[Clinical subtype],Glutathione synthetase deficiency without 5-oxoprolinuria,,,[231900],,,,,,,, +GARD:17332,Active,Orphanet,ORPHA:289857,Subtype of disorder,[Clinical subtype],Neonatal glycine encephalopathy,"[Classic glycine encephalopathy, Neonatal NKH, Neonatal non-ketotic hyperglycinemia]","Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.",[605899],,,,,,,, +GARD:17333,Active,Orphanet,ORPHA:289860,Subtype of disorder,[Clinical subtype],Infantile glycine encephalopathy,"[Infantile NKH, Infantile non-ketotic hyperglycinemia]","Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.",[605899],,,,,,,, +GARD:17334,Active,Orphanet,ORPHA:289863,Subtype of disorder,[Clinical subtype],Atypical glycine encephalopathy,"[Atypical NKA, Atypical non-ketotic hyperglycinemia]",A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy.,"[605899, 617301]",,,,,,,, +GARD:17335,Active,Orphanet,ORPHA:289916,Subtype of disorder,[Clinical subtype],Vitamin B12-unresponsive methylmalonic acidemia type mut0,"[Complete deficiency of methylmalonyl-CoA mutase, Vitamin B12-unresponsive methylmalonic aciduria type mut0]","Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.",[251000],,,,,,,, +GARD:17336,Active,Orphanet,ORPHA:293144,Subtype of disorder,[Etiological subtype],Familial clubfoot due to 5q31 microdeletion,[Hereditary clubfoot due to 5q31 microdeletion],,[119800],,,,,,,, +GARD:17337,Active,Orphanet,ORPHA:293150,Subtype of disorder,[Etiological subtype],Familial clubfoot due to PITX1 point mutation,[Hereditary clubfoot due to PITX1 point mutation],,[119800],,,,,,,, +GARD:17338,Active,Orphanet,ORPHA:293381,Disorder,[Disease],Epithelial recurrent erosion dystrophy,"[Dystrophia Helsinglandica, Dystrophia Smolandiensis, ERED, Recurrent hereditary corneal erosions]","Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.",[122400],,,,,,,, +GARD:17339,Active,Orphanet,ORPHA:293621,Disorder,[Disease],X-linked endothelial corneal dystrophy,[XECD],"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.",[300779],,,,,,,, +GARD:17340,Active,Orphanet,ORPHA:293633,Subtype of disorder,[Etiological subtype],PYCR1-related De Barsy syndrome,"[PYCR1 deficiency, Pyrroline-5-carboxylate reductase 1 deficiency]",,[614438],,,,,,,, +GARD:17341,Active,Orphanet,ORPHA:293707,Disorder,[Malformation syndrome],"Blepharophimosis-intellectual disability syndrome, MKB type","[BMRS, MKB type, BMRS, Maat-Kievit-Brunner type, Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type, X-linked Ohdo syndrome]","A rare, X-linked, syndromic, intellectual disability disorder affecting only boys and characterized by global development delay with little or no speech, urogenital abnormalities, including scrotal hypoplasia, micro penis, and cryptorchidism, autistic behavior, and facial dysmorphism. Most typical facial features are ptosis, blepharophimosis, a bulbous nasal tip, a long philtrum, and maxillar hypoplasia with full cheeks. Other variable features include microcephaly, hearing loss, dental anomalies, and hyperextensible joints.",[300895],,,,,,,, +GARD:17342,Active,Orphanet,ORPHA:293725,Disorder,[Malformation syndrome],"Blepharophimosis-intellectual disability syndrome, Verloes type","[BMRS type V, BMRS, Verloes type, Blepharophimosis-intellectual disability syndrome type V]","Blepharophimosis-intellectual disability syndrome, Verloes type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.",[604314],,,,,,,, +GARD:17343,Active,Orphanet,ORPHA:293822,Disorder,[Disease],MITF-related melanoma and renal cell carcinoma predisposition syndrome,,"MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.",[614456],,,,,,,, +GARD:17344,Active,Orphanet,ORPHA:293825,Disorder,[Disease],Congenital dyserythropoietic anemia type IV,"[CDA IV, CDA due to KLF1 mutation, CDA type 4, CDA type IV, CDAN4, Congenital dyserythropoietic anemia due to KLF1 mutation, Congenital dyserythropoietic anemia type 4]",Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.,[613673],,,,,,,, +GARD:17345,Active,Orphanet,ORPHA:293888,Subtype of disorder,[Clinical subtype],"Familial isolated arrhythmogenic ventricular dysplasia, left dominant form","[Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form]",,"[610193, 107970]",,,,,,,, +GARD:17346,Active,Orphanet,ORPHA:293899,Subtype of disorder,[Clinical subtype],"Familial isolated arrhythmogenic ventricular dysplasia, biventricular form","[Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form]",,"[610193, 107970]",,,,,,,, +GARD:17347,Active,Orphanet,ORPHA:293910,Subtype of disorder,[Clinical subtype],"Familial isolated arrhythmogenic ventricular dysplasia, right dominant form","[Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form, Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form, Familial isolated arrhythmogenic ventricular dysplasia, classic form]",,"[610193, 615616, 600996, 107970, 618920]",,,,,,,, +GARD:17348,Active,Orphanet,ORPHA:293925,Disorder,[Malformation syndrome],Lethal occipital encephalocele-skeletal dysplasia syndrome,,"Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.",[614416],,,,,,,, +GARD:17349,Active,Orphanet,ORPHA:293936,Disorder,[Disease],EDICT syndrome,"[Autosomal dominant keratoconus with early-onset anterior polar cataracts, Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome, Familial keratoconus with cataract, KTCNCT]","A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.",[614303],,,,,,,, +GARD:1735,Legacy,GARD,,,,,,,,,,,,Chromosome 11q deletion,TRUE,FALSE,Active +GARD:17350,Active,Orphanet,ORPHA:293939,Disorder,[Malformation syndrome],Distal Xq28 microduplication syndrome,"[Distal dup(X)q(28), Distal trisomy Xq28, Int22h1/Int22h2 mediated-Xq28 microduplication syndrome]","A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.",[300815],,,,,,,, +GARD:17351,Active,Orphanet,ORPHA:293958,Disorder,[Malformation syndrome],Hypertelorism-preauricular sinus-punctual pits-deafness syndrome,"[HPPD, Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome]","Hypertelorism-preauricular sinus-punctual pits-deafness syndrome is a rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.",[614187],,,,,,,, +GARD:17352,Active,Orphanet,ORPHA:293964,Disorder,[Disease],Hypoinsulinemic hypoglycemia and body hemihypertrophy,,"Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.",[240900],,,,,,,, +GARD:17353,Active,Orphanet,ORPHA:293978,Disorder,[Disease],Deficiency in anterior pituitary function-variable immunodeficiency syndrome,[DAVID syndrome],"Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.",[615577],,,,,,,, +GARD:17354,Active,Orphanet,ORPHA:294016,Disorder,[Malformation syndrome],Microcephaly-capillary malformation syndrome,"[MIC-CAP syndrome, MIC-CM syndrome, Microcephaly-cutaneous capillary malformation syndrome]","Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.",[614261],,,,,,,, +GARD:17355,Active,Orphanet,ORPHA:294023,Disorder,[Disease],Neonatal inflammatory skin and bowel disease,,"Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.","[616069, 614328]",,,,,,,, +GARD:17356,Active,Orphanet,ORPHA:294415,Disorder,[Malformation syndrome],Renal-hepatic-pancreatic dysplasia,"[Ivemark II syndrome, Renohepaticopancreatic dysplasia]","Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes.","[615415, 208540]",,,,,,,, +GARD:17357,Active,Orphanet,ORPHA:295187,Subtype of disorder,[Clinical subtype],Zygodactyly type 1,"[SD1, Weidenreich type, SD1a, Syndactyly type 1, Weidenreich type, Syndactyly type 1a, Zygodactyly, Weidenreich type]",,[609815],,,,,,,, +GARD:17358,Active,Orphanet,ORPHA:295195,Subtype of disorder,[Clinical subtype],Synpolydactyly type 1,"[SD2, Vordingborg type, SD2a, SPD, Vordingborg type, SPD1, Synpolydactyly, Vordingborg type]",,[186000],,,,,,,, +GARD:17359,Active,Orphanet,ORPHA:295197,Subtype of disorder,[Clinical subtype],Synpolydactyly type 2,"[SD2, Debeer type, SD2b, SPD, Debeer type, SPD2, Synpolydactyly, Debeer type]",,[608180],,,,,,,, +GARD:17360,Active,Orphanet,ORPHA:295199,Subtype of disorder,[Clinical subtype],Synpolydactyly type 3,"[SD2, Malik type, SD2c, SPD, Malik type, SPD3, Synpolydactyly, Malik type]",,[610234],,,,,,,, +GARD:17361,Active,Orphanet,ORPHA:300179,Subtype of disorder,[Clinical subtype],Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,"[Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness, Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss, FKBP14-related EDS, FKBP22-deficient EDS, Kyphoscoliotic EDS due to FKBP22 deficiency, kEDS-FKBP14]","A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.",[614557],,,,,,,, +GARD:17362,Active,Orphanet,ORPHA:300284,Disorder,[Disease],Connective tissue disorder due to lysyl hydroxylase-3 deficiency,"[Bone fragility-contractures-arterial rupture-deafness syndrome, Bone fragility-contractures-arterial rupture-hearing loss syndrome, Connective tissue disorder due to LH3 deficiency]","Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.",[612394],,,,,,,, +GARD:17363,Active,Orphanet,ORPHA:300293,Disorder,[Disease],Transient infantile hypertriglyceridemia and hepatosteatosis,[Transient infantile hypertriglyceridemia and fatty liver],"Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.",[614480],,,,,,,, +GARD:17364,Active,Orphanet,ORPHA:300298,Disorder,[Disease],Severe congenital hypochromic anemia with ringed sideroblasts,[Severe congenital hypochromic sideroblastic anemia],"STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.",[615234],,,,,,,, +GARD:17365,Active,Orphanet,ORPHA:300313,Disorder,[Disease],Congenital cataract-hearing loss-severe developmental delay syndrome,"[Congenital cataract-deafness-severe developmental delay syndrome, Huppke-Brendel syndrome, Lethal neurodegenerative disorder due to copper transport defect]","Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.",[614482],,,,,,,, +GARD:17366,Active,Orphanet,ORPHA:300324,Disorder,[Disease],Persistent polyclonal B-cell lymphocytosis,"[PPBL, Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes]","Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.",[606445],,,,,,,, +GARD:17367,Active,Orphanet,ORPHA:300333,Disorder,[Disease],Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,"[EBS with nephropathy, Epidermolysis bullosa simplex with nephropathy, Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome]","A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.",[609057],,,,,,,, +GARD:17368,Active,Orphanet,ORPHA:300345,Disorder,[Disease],Autosomal systemic lupus erythematosus,"[Autosomal SLE, Familial SLE, Familial systemic lupus erythematosus]","Autosomal systemic lupus erythematosus is a rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.",[614420],,,,,,,, +GARD:17369,Active,Orphanet,ORPHA:300359,Disorder,[Disease],PLCG2-associated antibody deficiency and immune dysregulation,"[FACU, Familial atypical cold urticaria, Familial cold urticaria with common variable immunodeficiency, PLAID]","PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.",[614468],,,,,,,, +GARD:17370,Active,Orphanet,ORPHA:300373,Disorder,[Disease],X-linked acrogigantism,"[Familial infantile gigantism, Hereditary infantile gigantism, Hereditary pituitary hyperplasia, Infantile gigantism due to pituitary hyperplasia, X-LAG]","A rare, genetic pituitary disease characterized by infantile-onset, rapid and excessive acceleration of linear growth and body size due to mixed growth hormone (GH)- and prolactin-secreting adenomas and/or pituitary hyperplasia. Patients present with gigantism and may have associated acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, increased appetite and acanthosis nigricans.",[300942],,,,,,,, +GARD:17371,Active,Orphanet,ORPHA:300382,Disorder,[Disease],Progeroid and marfanoid aspect-lipodystrophy syndrome,,"Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.",[616914],,,,,,,, +GARD:17372,Active,Orphanet,ORPHA:300525,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2D,[PHA2D],,[614495],,,,,,,, +GARD:17373,Active,Orphanet,ORPHA:300530,Subtype of disorder,[Etiological subtype],Pseudohypoaldosteronism type 2E,[PHA2E],,[614496],,,,,,,, +GARD:17374,Active,Orphanet,ORPHA:300547,Disorder,[Disease],Autosomal recessive infantile hypercalcemia,[Familial infantile hypercalcemia with suppressed intact parathyroid hormone],"A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.","[143880, 616963]",,,,,,,, +GARD:17375,Active,Orphanet,ORPHA:300573,Disorder,[Malformation syndrome],Polymicrogyria due to TUBB2B mutation,,"A rare, genetic, complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).",[610031],,,,,,,, +GARD:17376,Active,Orphanet,ORPHA:300576,Disorder,[Disease],Oligodontia-cancer predisposition syndrome,[Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome],"Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.",[608615],,,,,,,, +GARD:17377,Active,Orphanet,ORPHA:306504,Disorder,[Disease],Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,"[ILNEB syndrome, JEB with interstitial lung disease and nephrotic syndrome, Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome]","A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.",[614748],,,,,,,, +GARD:17378,Active,Orphanet,ORPHA:306511,Disorder,[Disease],Autosomal recessive spastic paraplegia type 48,[SPG48],"A rare, pure or complex form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia, parkinsonism, and dystonia as well as thin corpus callosum and white matter lesions (seen on brain and spine magnetic resonance imaging), has also been reported.",[613647],,,,,,,, +GARD:17379,Active,Orphanet,ORPHA:306530,Disorder,[Morphological anomaly],Congenital hereditary facial paralysis-variable hearing loss syndrome,"[Congenital hereditary facial palsy with variable deafness, Congenital hereditary facial palsy with variable hearing loss, Congenital hereditary facial paralysis with variable deafness, Congenital hereditary facial paralysis-variable deafness syndrome]","Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.","[614744, 604185]",,,,,,,, +GARD:1738,Legacy,GARD,,,,,,,,,,,,Chromosome 13q deletion,TRUE,FALSE,Active +GARD:17380,Active,Orphanet,ORPHA:306547,Disorder,[Malformation syndrome],Porencephaly-microcephaly-bilateral congenital cataract syndrome,,"Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.",[613730],,,,,,,, +GARD:17381,Active,Orphanet,ORPHA:306558,Disorder,[Disease],Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,,"Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.","[619278, 614231]",,,,,,,, +GARD:17382,Active,Orphanet,ORPHA:306577,Disorder,[Disease],Sodium channelopathy-related small fiber neuropathy,,"Sodium channelopathy-related small fiber neuropathy is a rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve fiber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal.","[133020, 615551]",,,,,,,, +GARD:17383,Active,Orphanet,ORPHA:306734,Disorder,[Disease],"Primary dystonia, DYT21 type",[DYT21],"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.",[614588],,,,,,,, +GARD:17384,Active,Orphanet,ORPHA:307936,Disorder,[Disease],Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,"[HOPP syndrome, Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome, Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome, Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome]","Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.",[607658],,,,,,,, +GARD:17385,Active,Orphanet,ORPHA:308380,Subtype of disorder,[Clinical subtype],Methylcobalamin deficiency type cblDv1,[Functional methionine synthase deficiency type cblDv1],,[277410],,,,,,,, +GARD:17386,Active,Orphanet,ORPHA:308386,Subtype of disorder,[Etiological subtype],Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,"[Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A, MOCOD type A]",,[252150],,,,,,,, +GARD:17387,Active,Orphanet,ORPHA:308393,Subtype of disorder,[Etiological subtype],Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B,"[Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B, MOCOD type B]",,[252160],,,,,,,, +GARD:17388,Active,Orphanet,ORPHA:308400,Subtype of disorder,[Etiological subtype],Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,"[Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C, MOCOD type C]",,[615501],,,,,,,, +GARD:17389,Active,Orphanet,ORPHA:308410,Disorder,[Disease],Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,,"A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.",[614923],,,,,,,, +GARD:17390,Active,Orphanet,ORPHA:308425,Disorder,[Disease],Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,"[MCEE deficiency, Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency]","Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.",[251120],,,,,,,, +GARD:17391,Active,Orphanet,ORPHA:308442,Subtype of disorder,[Clinical subtype],"Vitamin B12-responsive methylmalonic acidemia, type cblDv2","[Vitamin B12-responsive methylmalonic aciduria, type cblDv2]",,[277410],,,,,,,, +GARD:17392,Active,Orphanet,ORPHA:308473,Subtype of disorder,[Clinical subtype],Erythrocyte galactose epimerase deficiency,"[Erythrocyte GALE deficiency, Erythrocyte GALE-D, Erythrocyte UDP-galactose-4-epimerase deficiency, Erythrocyte epimerase deficiency galactosemia, Erythrocyte uridine diphosphate galactose-4-epimerase deficiency]",,[230350],,,,,,,, +GARD:17393,Active,Orphanet,ORPHA:308487,Subtype of disorder,[Clinical subtype],Generalized galactose epimerase deficiency,"[Generalized GALE deficiency, Generalized GALE-D, Generalized UDP-galactose-4-epimerase deficiency, Generalized epimerase deficiency galactosemia, Generalized uridine diphosphate galactose-4-epimerase deficiency]",,[230350],,,,,,,, +GARD:17394,Active,Orphanet,ORPHA:308621,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form","[GBE deficiency, progressive hepatic form, GSD due to glycogen branching enzyme deficiency, progressive hepatic form, GSD type 4, progressive hepatic form, GSDIV, progressive hepatic form, Glycogen storage disease type 4, progressive hepatic form, Glycogen storage disease type IV, progressive hepatic form, Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form, Glycogenosis type 4, progressive hepatic form, Glycogenosis type IV, progressive hepatic form]",,[232500],,,,,,,, +GARD:17395,Active,Orphanet,ORPHA:308638,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form","[GBE deficiency, non progressive hepatic form, GSD due to glycogen branching enzyme deficiency, non progressive hepatic form, GSD type 4, non progressive hepatic form, GSDIV, non progressive hepatic form, Glycogen storage disease type 4, non progressive hepatic form, Glycogen storage disease type IV, non progressive hepatic form, Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form, Glycogenosis type 4, non progressive hepatic form, Glycogenosis type IV, non progressive hepatic form]",,[232500],,,,,,,, +GARD:17396,Active,Orphanet,ORPHA:308655,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","[GBE deficiency, fatal perinatal neuromuscular form, GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form, GSD type 4, fatal perinatal neuromuscular form, GSDIV, fatal perinatal neuromuscular form, Glycogen storage disease type 4, fatal perinatal neuromuscular form, Glycogen storage disease type IV, fatal perinatal neuromuscular form, Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form, Glycogenosis type 4, fatal perinatal neuromuscular form, Glycogenosis type IV, fatal perinatal neuromuscular form]",,[232500],,,,,,,, +GARD:17397,Active,Orphanet,ORPHA:308670,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form","[GBE deficiency, congenital neuromuscular form, GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form, GSD type 4, congenital neuromuscular form, GSDIV, congenital neuromuscular form, Glycogen storage disease type 4, congenital neuromuscular form, Glycogen storage disease type IV, congenital neuromuscular form, Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form, Glycogenosis type 4, congenital neuromuscular form, Glycogenosis type IV, congenital neuromuscular form]",,[232500],,,,,,,, +GARD:17398,Active,Orphanet,ORPHA:308684,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form","[GBE deficiency, childhood combined hepatic and myopathic form, GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form, GSD type 4, childhood combined hepatic and myopathic form, GSDIV, childhood combined hepatic and myopathic form, Glycogen storage disease type 4, childhood combined hepatic and myopathic form, Glycogen storage disease type IV, childhood combined hepatic and myopathic form, Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form, Glycogenosis type 4, childhood combined hepatic and myopathic form, Glycogenosis type IV, childhood combined hepatic and myopathic form]",,[232500],,,,,,,, +GARD:17399,Active,Orphanet,ORPHA:308698,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form","[GBE deficiency, childhood neuromuscular form, GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form, GSD type 4, childhood neuromuscular form, GSDIV, childhood neuromuscular form, Glycogen storage disease type 4, childhood neuromuscular form, Glycogen storage disease type IV, childhood neuromuscular form, Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form, Glycogenosis type 4, childhood neuromuscular form, Glycogenosis type IV, childhood neuromuscular form]",,[232500],,,,,,,, +GARD:174,Legacy,GARD,,,,,,,,,,,,Kuzniecky Andermann syndrome,TRUE,FALSE,Active +GARD:17400,Active,Orphanet,ORPHA:308712,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form","[GBE deficiency, adult neuromuscular form, GSD due to glycogen branching enzyme deficiency, adult neuromuscular form, GSD type 4, adult neuromuscular form, GSDIV, adult neuromuscular form, Glycogen storage disease type 4, adult neuromuscular form, Glycogen storage disease type IV, adult neuromuscular form, Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form, Glycogenosis type 4, adult neuromuscular form, Glycogenosis type IV, adult neuromuscular form]",,[232500],,,,,,,, +GARD:17401,Active,Orphanet,ORPHA:309031,Disorder,[Disease],Pancreatic triacylglycerol lipase deficiency,[Pancreatic triglyceride lipase deficiency],"A rare genetic disorder of lipid metabolism characterized by neonatal to childhood onset of impaired absorption of dietary fat with greasy/oily and voluminous stools, but normal growth and development. Decreased levels of fecal elastase, as well as low serum levels of the fat-soluble vitamins A, D, and E, have been reported.",[614338],,,,,,,, +GARD:17402,Active,Orphanet,ORPHA:309108,Disorder,[Disease],Pancreatic colipase deficiency,,"A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no further descriptions in the literature since 1982.",[614338],,,,,,,, +GARD:17403,Active,Orphanet,ORPHA:309111,Disorder,[Disease],Combined pancreatic lipase-colipase deficiency,,"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.",[614338],,,,,,,, +GARD:17404,Active,Orphanet,ORPHA:309162,Subtype of disorder,[Clinical subtype],"Sandhoff disease, juvenile form","[Hexosaminidases A and B deficiency, juvenile form, Juvenile GM2 gangliosidosis 0 variant]",,[268800],,,,,,,, +GARD:17405,Active,Orphanet,ORPHA:309169,Subtype of disorder,[Clinical subtype],"Sandhoff disease, adult form","[Adult GM2 gangliosidosis 0 variant, Hexosaminidases A and B deficiency, adult form]",,[268800],,,,,,,, +GARD:17406,Active,Orphanet,ORPHA:309246,Disorder,[Disease],"GM2 gangliosidosis, AB variant",[Hexosaminidase activator deficiency],"GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.",[272750],,,,,,,, +GARD:17407,Active,Orphanet,ORPHA:309282,Subtype of disorder,[Clinical subtype],"Alpha-mannosidosis, infantile form","[Lysosomal alpha-D-mannosidase deficiency, infantile form]",,[248500],,,,,,,, +GARD:17408,Active,Orphanet,ORPHA:309288,Subtype of disorder,[Clinical subtype],"Alpha-mannosidosis, adult form","[Lysosomal alpha-D-mannosidase deficiency, adult form]",,[248500],,,,,,,, +GARD:17409,Active,Orphanet,ORPHA:313772,Disorder,[Disease],Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,"[AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome, Autosomal recessive spastic ataxia type 5, SPAX5]","Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.",[614487],,,,,,,, +GARD:17410,Active,Orphanet,ORPHA:313795,Disorder,[Malformation syndrome],Jawad syndrome,,"Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.",[251255],,,,,,,, +GARD:17411,Active,Orphanet,ORPHA:313800,Disorder,[Disease],Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,"[Optic nerve edema-splenomegaly syndrome, ROSAH syndrome]","A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.",[614979],,,,,,,, +GARD:17412,Active,Orphanet,ORPHA:313838,Disorder,[Disease],Coats plus syndrome,"[CRMCC, Cerebroretinal microangiopathy with calcifications and cysts]","Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.","[612199, 617341]",,,,,,,, +GARD:17413,Active,Orphanet,ORPHA:313846,Disorder,[Disease],Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,,"Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome is a rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.",[614564],,,,,,,, +GARD:17414,Active,Orphanet,ORPHA:313884,Subtype of disorder,[Clinical subtype],12p12.1 microdeletion syndrome,"[Del(12)(p12.1), Monosomy 12p12.1]","12p12.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized by intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations.",[616803],,,,,,,, +GARD:17415,Active,Orphanet,ORPHA:313892,Subtype of disorder,[Clinical subtype],Developmental and speech delay due to SOX5 deficiency,,"Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).",[616803],,,,,,,, +GARD:17416,Active,Orphanet,ORPHA:314022,Disorder,[Disease],Gastric adenocarcinoma and proximal polyposis of the stomach,"[Familial fundic gland polyposis with gastric cancer, GAPPS]","Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis.",[619182],,,,,,,, +GARD:17417,Active,Orphanet,ORPHA:314373,Disorder,[Disease],Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,,"A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated.",[614616],,,,,,,, +GARD:17418,Active,Orphanet,ORPHA:314376,Disorder,[Disease],Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,[Meconium ileus due to guanylate cyclase 2C deficiency],"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis (see this term) including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.",[614665],,,,,,,, +GARD:17419,Active,Orphanet,ORPHA:314394,Disorder,[Disease],Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,[SOFT syndrome],"Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.",[614813],,,,,,,, +GARD:17420,Active,Orphanet,ORPHA:314399,Disorder,[Disease],Autosomal dominant aplasia and myelodysplasia,[Autosomal dominant aplastic anemia and myelodysplasia],"A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.",[614675],,,,,,,, +GARD:17421,Active,Orphanet,ORPHA:314485,Disorder,[Disease],Young adult-onset distal hereditary motor neuropathy,"[Autosomal recessive distal spinal muscular atrophy type 5, Young adult-onset dHMN, dSMA5]","Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.","[619216, 614881]",,,,,,,, +GARD:17422,Active,Orphanet,ORPHA:314555,Disorder,[Malformation syndrome],Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,[Hamamy syndrome],"A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.",[611174],,,,,,,, +GARD:17423,Active,Orphanet,ORPHA:314585,Disorder,[Malformation syndrome],15q overgrowth syndrome,,"A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.",[614846],,,,,,,, +GARD:17424,Active,Orphanet,ORPHA:314588,Subtype of disorder,[Etiological subtype],Distal tetrasomy 15q,"[Tetrasomy 15(q25-qter), Tetrasomy 15q26]",,[614846],,,,,,,, +GARD:17425,Active,Orphanet,ORPHA:314603,Disorder,[Disease],Autosomal recessive spastic ataxia with leukoencephalopathy,"[ARSAL, Autosomal recessive spastic ataxia type 3, SPAX3]","A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy.",[611390],,,,,,,, +GARD:17426,Active,Orphanet,ORPHA:314629,Subtype of disorder,[Etiological subtype],CLN11 disease,,,[614706],,,,,,,, +GARD:17427,Active,Orphanet,ORPHA:314632,Disorder,[Disease],ATP13A2-related juvenile neuronal ceroid lipofuscinosis,"[CLN12 disease, Juvenile parkinsonism-neuronal ceroid lipofuscinosis]","A rare neuronal ceroid lipofiscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon post mortem.",[606693],,,,,,,, +GARD:17428,Active,Orphanet,ORPHA:314637,Disorder,[Disease],Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,"[COXPD10, Combined oxidative phosphorylation defect type 10]","A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.",[614702],,,,,,,, +GARD:17429,Active,Orphanet,ORPHA:314647,Disorder,[Disease],Non-progressive cerebellar ataxia with intellectual disability,,"A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).",[614756],,,,,,,, +GARD:17430,Active,Orphanet,ORPHA:314689,Disorder,[Disease],Combined immunodeficiency due to STK4 deficiency,[CID due to STK4 deficiency],"A rare, genetic, combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).",[614868],,,,,,,, +GARD:17431,Active,Orphanet,ORPHA:314701,Subtype of disorder,[Clinical subtype],Primary systemic amyloidosis,[Systemic AL amyloidosis],,[254500],,,,,,,, +GARD:17432,Active,Orphanet,ORPHA:314718,Disorder,[Disease],Lethal arteriopathy syndrome due to fibulin-4 deficiency,,"Lethal arteriopathy syndrome due to fibulin-4 deficiency is a rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.",[614437],,,,,,,, +GARD:17433,Active,Orphanet,ORPHA:314721,Subtype of disorder,[Clinical subtype],Atypical dentin dysplasia due to SMOC2 deficiency,[Dentin dysplasia type 1 with microdontia and shape anomalies],"A rare, genetic, dentin dysplasia disease characterized by extreme microdontia, oligodontia, and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp), enamel hypoplasia and anterior open bite may also be associated.",[125400],,,,,,,, +GARD:17434,Active,Orphanet,ORPHA:314795,Disorder,[Disease],SHOX-related short stature,,"SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.",[300582],,,,,,,, +GARD:17435,Active,Orphanet,ORPHA:314802,Disorder,[Disease],Short stature due to partial GHR deficiency,[Short stature due to partial growth hormone receptor deficiency],"Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.",[604271],,,,,,,, +GARD:17436,Active,Orphanet,ORPHA:314811,Disorder,[Disease],Short stature due to GHSR deficiency,"[Ghrelin receptor deficiency, Short stature due to growth hormone secretagogue receptor deficiency]","Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.",[615925],,,,,,,, +GARD:17437,Active,Orphanet,ORPHA:314911,Subtype of disorder,[Clinical subtype],Severe Canavan disease,"[Infantile Canavan disease, Neonatal Canavan disease]","Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.",[271900],,,,,,,, +GARD:17438,Active,Orphanet,ORPHA:314918,Subtype of disorder,[Clinical subtype],Mild Canavan disease,[Juvenile Canavan disease],Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.,[271900],,,,,,,, +GARD:17439,Active,Orphanet,ORPHA:314978,Disorder,[Disease],X-linked non progressive cerebellar ataxia,,"X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.",[300703],,,,,,,, +GARD:17440,Active,Orphanet,ORPHA:314993,Disorder,[Malformation syndrome],Cataract-congenital heart disease-neural tube defect syndrome,,"Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.",[608227],,,,,,,, +GARD:17441,Active,Orphanet,ORPHA:317425,Disorder,[Disease],Severe combined immunodeficiency due to DNA-PKcs deficiency,[SCID due to DNA-PKcs deficiency],"Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.",[615966],,,,,,,, +GARD:17442,Active,Orphanet,ORPHA:317473,Disorder,[Disease],Pancytopenia due to IKZF1 mutations,"[CID due to IKAROS deficiency, Combined immunodeficiency due to IKAROS deficiency]","A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.",[616873],,,,,,,, +GARD:17443,Active,Orphanet,ORPHA:319160,Disorder,[Disease],Congenital myopathy with internal nuclei and atypical cores,"[CNM4, Centronuclear myopathy type 4]","Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.",[614807],,,,,,,, +GARD:17444,Active,Orphanet,ORPHA:319189,Disorder,[Disease],Familial cortical myoclonus,,"Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.",[614937],,,,,,,, +GARD:17445,Active,Orphanet,ORPHA:319199,Disorder,[Disease],Autosomal recessive spastic paraplegia type 53,[SPG53],"Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.",[614898],,,,,,,, +GARD:17446,Active,Orphanet,ORPHA:319308,Disorder,[Disease],MiT family translocation renal cell carcinoma,"[Carcinoma associated with MITF/TFE translocation, Translocation renal cell carcinoma]","MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.",[300854],,,,,,,, +GARD:17447,Active,Orphanet,ORPHA:319332,Disorder,[Disease],Autosomal recessive myogenic arthrogryposis multiplex congenita,"[Autosomal recessive myogenic AMC, SYNE1-related AMC, SYNE1-related arthrogryposis multiplex congenita]","Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.",[618484],,,,,,,, +GARD:17448,Active,Orphanet,ORPHA:319340,Disorder,[Disease],Carney complex-trismus-pseudocamptodactyly syndrome,[Carney complex variant],"Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).",[608837],,,,,,,, +GARD:17449,Active,Orphanet,ORPHA:319462,Disorder,[Disease],Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations,,"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.",[605724],,,,,,,, +GARD:17450,Active,Orphanet,ORPHA:319465,Disorder,[Disease],Inherited acute myeloid leukemia,"[Familial AML, Inherited AML, Pure familial AML, Pure familial acute myeloid leukemia]","Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.",[601626],,,,,,,, +GARD:17451,Active,Orphanet,ORPHA:319480,Disorder,[Disease],Acute myeloid leukemia with CEBPA somatic mutations,[AML with CEBPA somatic mutations],"A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).",[601626],,,,,,,, +GARD:17452,Active,Orphanet,ORPHA:319504,Disorder,[Disease],Combined oxidative phosphorylation defect type 8,[COXPD8],"Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.",[614096],,,,,,,, +GARD:17453,Active,Orphanet,ORPHA:319509,Disorder,[Disease],Combined oxidative phosphorylation defect type 9,[COXPD9],"Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.",[614582],,,,,,,, +GARD:17454,Active,Orphanet,ORPHA:319514,Disorder,[Disease],Combined oxidative phosphorylation defect type 13,[COXPD13],"Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.",[614932],,,,,,,, +GARD:17455,Active,Orphanet,ORPHA:319519,Disorder,[Disease],Combined oxidative phosphorylation defect type 14,[COXPD14],"Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.",[614946],,,,,,,, +GARD:17456,Active,Orphanet,ORPHA:319524,Disorder,[Disease],Combined oxidative phosphorylation defect type 15,[COXPD15],"Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.",[614947],,,,,,,, +GARD:17457,Active,Orphanet,ORPHA:319547,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,"[MSMD due to complete IFNgammaR2 deficiency, MSMD due to complete interferon gamma receptor 2 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency]","Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[614889],,,,,,,, +GARD:17458,Active,Orphanet,ORPHA:319563,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,[MSMD due to complete ISG15 deficiency],Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections.,[616126],,,,,,,, +GARD:17459,Active,Orphanet,ORPHA:319569,Disorder,[Disease],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,"[Autosomal recessive MSMD due to partial IFNgammaR1 deficiency, Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency]","A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[209950],,,,,,,, +GARD:1746,Legacy,GARD,,,,,,,,,,,,Chromosome 15q deletion,TRUE,FALSE,Active +GARD:17460,Active,Orphanet,ORPHA:319574,Disorder,[Disease],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,"[Autosomal recessive MSMD due to partial IFNgammaR2 deficiency, Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency]","Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[614889],,,,,,,, +GARD:17461,Active,Orphanet,ORPHA:319581,Disorder,[Disease],Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,"[Autosomal dominant MSMD due to partial IFNgammaR1 deficiency, Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency]","A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[615978],,,,,,,, +GARD:17462,Active,Orphanet,ORPHA:319595,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,"[MSMD due to partial STAT1 deficiency, MSMD due to partial signal transducer and activator of transcription 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency]","Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.",[614892],,,,,,,, +GARD:17463,Active,Orphanet,ORPHA:319600,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,"[MSMD due to partial IRF8 deficiency, MSMD due to partial interferon regulatory factor 8 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency]",Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..,[614893],,,,,,,, +GARD:17464,Active,Orphanet,ORPHA:319605,Disorder,[Disease],X-linked mendelian susceptibility to mycobacterial diseases,[X-linked MSMD],"X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD; see this term) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.","[300636, 300645]",,,,,,,, +GARD:17465,Active,Orphanet,ORPHA:319623,Subtype of disorder,[Etiological subtype],X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency,[X-linked MSMD due to CYBB deficiency],,[300645],,,,,,,, +GARD:17466,Active,Orphanet,ORPHA:319635,Disorder,[Disease],Amyloidosis cutis dyschromia,[Amyloidosis cutis dyschromica],"A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.",[617920],,,,,,,, +GARD:17467,Active,Orphanet,ORPHA:319640,Disorder,[Disease],Retinal macular dystrophy type 2,[MCDR2],"Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.",[608051],,,,,,,, +GARD:17468,Active,Orphanet,ORPHA:319671,Disorder,[Malformation syndrome],Alazami syndrome,"[Microcephalic primordial dwarfism, Alazami type]","A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).",[615071],,,,,,,, +GARD:17469,Active,Orphanet,ORPHA:319675,Disorder,[Malformation syndrome],"Microcephalic primordial dwarfism, Dauber type",,"Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.",[614851],,,,,,,, +GARD:17470,Active,Orphanet,ORPHA:319678,Disorder,[Disease],Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,,"Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.",[614654],,,,,,,, +GARD:17471,Active,Orphanet,ORPHA:320355,Disorder,[Disease],Autosomal dominant spastic paraplegia type 41,[SPG41],"A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.",[613364],,,,,,,, +GARD:17472,Active,Orphanet,ORPHA:320365,Disorder,[Disease],Autosomal dominant spastic paraplegia type 36,[SPG36],"A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.",[613096],,,,,,,, +GARD:17473,Active,Orphanet,ORPHA:320370,Disorder,[Disease],Autosomal recessive spastic paraplegia type 43,[SPG43],"Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.",[615043],,,,,,,, +GARD:17474,Active,Orphanet,ORPHA:320375,Disorder,[Disease],Autosomal recessive spastic paraplegia type 55,[SPG55],"Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.",[615035],,,,,,,, +GARD:17475,Active,Orphanet,ORPHA:320380,Disorder,[Disease],Autosomal recessive spastic paraplegia type 54,[SPG54],"Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.",[615033],,,,,,,, +GARD:17476,Active,Orphanet,ORPHA:320391,Disorder,[Disease],Autosomal recessive spastic paraplegia type 46,[SPG46],"Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.",[614409],,,,,,,, +GARD:17477,Active,Orphanet,ORPHA:320396,Disorder,[Disease],Autosomal recessive spastic paraplegia type 45,"[Autosomal recessive spastic paraplegia type 65, SPG45, SPG65]","Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.",[613162],,,,,,,, +GARD:17478,Active,Orphanet,ORPHA:320401,Disorder,[Disease],Autosomal recessive spastic paraplegia type 44,[SPG44],"Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.",[613206],,,,,,,, +GARD:17479,Active,Orphanet,ORPHA:320406,Disorder,[Disease],Spastic paraplegia-optic atrophy-neuropathy syndrome,[SPOAN],"A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis.",[609541],,,,,,,, +GARD:17480,Active,Orphanet,ORPHA:320411,Disorder,[Disease],Autosomal recessive spastic paraplegia type 56,[SPG56],"A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated.",[615030],,,,,,,, +GARD:17481,Active,Orphanet,ORPHA:324262,Subtype of disorder,[Clinical subtype],Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,"[Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency, Autosomal recessive spinocerebellar ataxia type 13, SCAR13]","A rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.",[614831],,,,,,,, +GARD:17482,Active,Orphanet,ORPHA:324290,Disorder,[Disease],Early-onset Lafora body disease,,"A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies.",[616640],,,,,,,, +GARD:17483,Active,Orphanet,ORPHA:324294,Disorder,[Disease],T-cell immunodeficiency with epidermodysplasia verruciformis,[T-cell immunodeficiency due to RHOH deficiency],"A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.",[618307],,,,,,,, +GARD:17484,Active,Orphanet,ORPHA:324321,Disorder,[Disease],Sinoatrial node dysfunction and deafness,[Sinoatrial node dysfunction and hearing loss],"Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.",[614896],,,,,,,, +GARD:17485,Active,Orphanet,ORPHA:324410,Disorder,[Disease],X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,,"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.",[300886],,,,,,,, +GARD:17486,Active,Orphanet,ORPHA:324530,Disorder,[Disease],Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,[APLAID],"A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.",[614878],,,,,,,, +GARD:17487,Active,Orphanet,ORPHA:324535,Disorder,[Disease],Combined oxidative phosphorylation defect type 11,[COXPD11],"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss, and renal disease. Additional, variably observed, clinical features include intellectual disability, seizures, and cardiomyopathy.",[614922],,,,,,,, +GARD:17488,Active,Orphanet,ORPHA:324569,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 8,"[PCH8, Pontocerebellar hypoplasia due to CHMP1A mutation]","Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.",[614961],,,,,,,, +GARD:17489,Active,Orphanet,ORPHA:324703,Subtype of disorder,[Clinical subtype],ABetaL34V amyloidosis,"[ABeta amyloidosis, Piedmont type, ABetaL34V-related amyloidosis, HCHWA, Piedmont type, Hereditary cerebral hemorrhage with amyloidosis, Piedmont type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17490,Active,Orphanet,ORPHA:324708,Subtype of disorder,[Clinical subtype],"ABeta amyloidosis, Iowa type","[ABetaD23N amyloidosis, HCHWA, Iowa type, Hereditary cerebral hemorrhage with amyloidosis, Iowa type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes, and lobar intracerebral hemorrhages. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17491,Active,Orphanet,ORPHA:324713,Subtype of disorder,[Clinical subtype],"ABeta amyloidosis, Italian type","[ABetaE22K amyloidosis, HCHWA, Italian type, Hereditary cerebral hemorrhage with amyloidosis, Italian type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17492,Active,Orphanet,ORPHA:324718,Subtype of disorder,[Clinical subtype],ABetaA21G amyloidosis,"[ABeta amyloidosis, Flemish type, ABetaA21G-related amyloidosis, HCHWA, Flemish type, Hereditary cerebral hemorrhage with amyloidosis, Flemish type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia, and lobar intracerebral hemorrhage in some patients. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17493,Active,Orphanet,ORPHA:324723,Subtype of disorder,[Clinical subtype],"ABeta amyloidosis, Arctic type","[ABetaE22G amyloidosis, HCHWA, Arctic type, Hereditary cerebral hemorrhage with amyloidosis, Arctic type]","A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 54-61 years, progressive Alzheimer's disease-like dementia, and absence of intracerebral hemorrhages. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.",[605714],,,,,,,, +GARD:17494,Active,Orphanet,ORPHA:329173,Disorder,[Disease],Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,,"A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.",[615895],,,,,,,, +GARD:17495,Active,Orphanet,ORPHA:329191,Disorder,[Disease],Tall stature-long halluces-multiple extra-epiphyses syndrome,[Tall stature-scoliosis-macrodactyly of the halluces syndrome],"Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.",[615923],,,,,,,, +GARD:17496,Active,Orphanet,ORPHA:329195,Disorder,[Disease],Developmental delay with autism spectrum disorder and gait instability,[Developmental delay with ASD and gait instability],"Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.",[615516],,,,,,,, +GARD:17497,Active,Orphanet,ORPHA:329211,Disorder,[Disease],Autosomal dominant neovascular inflammatory vitreoretinopathy,[ADNIV],"A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.",[193235],,,,,,,, +GARD:17498,Active,Orphanet,ORPHA:329228,Disorder,[Malformation syndrome],Microcephalic primordial dwarfism due to ZNF335 deficiency,"[Microcephalic primordial dwarfism, Walsh type]","Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.",[615095],,,,,,,, +GARD:17499,Active,Orphanet,ORPHA:329235,Disorder,[Disease],X-linked central congenital hypothyroidism with late-onset testicular enlargement,"[IGSF1 deficiency syndrome, X-linked central congenital hypothyroidism with late-onset macroorchidism]","X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.",[300888],,,,,,,, +GARD:175,Active,Orphanet,ORPHA:309324,Subtype of disorder,[Clinical subtype],"Free sialic acid storage disease, infantile form",[ISSD],,[269920],,,,,Infantile free sialic acid storage disease,TRUE,FALSE,Active +GARD:17500,Active,Orphanet,ORPHA:329242,Disorder,[Disease],Congenital chronic diarrhea with protein-losing enteropathy,[Congenital chronic diarrhea with exudative enteropathy],"Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.","[618183, 615863]",,,,,,,, +GARD:17501,Active,Orphanet,ORPHA:329314,Disorder,[Disease],Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,[Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency],"An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.",[617070],,,,,,,, +GARD:17502,Active,Orphanet,ORPHA:329332,Disorder,[Malformation syndrome],Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,[Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome],"Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.",[614407],,,,,,,, +GARD:17503,Active,Orphanet,ORPHA:329336,Disorder,[Disease],Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,[Adult-onset CPEO with mitochondrial myopathy],"A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.",[616479],,,,,,,, +GARD:17504,Active,Orphanet,ORPHA:329481,Disorder,[Disease],Lipoprotein glomerulopathy,[LPG],"A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed.",[611771],,,,,,,, +GARD:17505,Active,Orphanet,ORPHA:329802,Disorder,[Malformation syndrome],5p13 microduplication syndrome,"[Dup(5)(p13), Trisomy 5p13]","A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).",[613174],,,,,,,, +GARD:17506,Active,Orphanet,ORPHA:329903,Subtype of disorder,[Clinical subtype],Immunoglobulin-mediated membranoproliferative glomerulonephritis,"[Ig-mediated MPGN, Ig-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated MPGN]","A primary form of membranoproliferative glomerulonephritis (MPGN) characterized by deposition in the renal glomeruli of immunoglobulin with complement fractions, especially C3. Clinical presentation may range from nephrotic syndrome and acute kidney injury to asymptomatic proteinuria and hematuria.",[615008],,,,,,,, +GARD:17507,Active,Orphanet,ORPHA:329918,Subtype of disorder,[Clinical subtype],C3 glomerulopathy,"[Non-Ig-mediated MPGN, Non-Ig-mediated membranoproliferative glomerulonephritis, Non-immunoglobulin-mediated MPGN, Non-immunoglobulin-mediated membranoproliferative glomerulonephritis]","A form of primary membranoproliferative glomerulonephritis characterized by the presence in renal biopsy samples of a glomerulonephritis with sole (or at least dominant) glomerular immunofluorescence staining for C3. Non-specific alterations or proliferative patterns with C3-dominant glomerular staining are also possible. Based upon electron microscopic findings, C3 glomerulopathy (C3G) may be further classified as C3 glomerulonephritis (C3GN) or Dense deposit disease (DDD).","[609814, 614809]",,,,,,,, +GARD:17508,Active,Orphanet,ORPHA:329971,Subtype of disorder,[Clinical subtype],Generalized juvenile polyposis/juvenile polyposis coli,,,"[175050, 174900]",,,,,,,, +GARD:17509,Active,Orphanet,ORPHA:330050,Subtype of disorder,[Etiological subtype],DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,,,[614388],,,,,,,, +GARD:17510,Active,Orphanet,ORPHA:330061,Disorder,[Disease],Actinic prurigo,"[Familial polymorphous light eruption of American Indians, Hereditary polymorphous light eruption of American Indians, Hutchinson summer prurigo, Hydroa aestivale]","A rare, chronic, photodermatosis disease characterized by intensely pruritic, polymorphic, erythematous, excoriated and/or lichenified papules, macules, plaques and nodules, occurring on sun-exposed areas of the skin (particularly face, nose, lips, and ears), frequently associating cheilitis (especially of the lower lip) and conjuctivitis, which are present year-round or only in the spring/summer (depending on geographic location), observed mainly in Native Americans and Mestizos. Cheilitis may be the sole clinical presentation. Histologically, the presence of lymphoid follicles in mucosa is pathognomonic.",[174770],,,,,,,, +GARD:17511,Active,Orphanet,ORPHA:331176,Disorder,[Disease],Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency,"[SCN4, Severe congenital neutropenia type 4, Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome]","Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.",[612541],,,,,,,, +GARD:17512,Active,Orphanet,ORPHA:331187,Disorder,[Disease],Immunodeficiency due to MASP-2 deficiency,,"Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.",[613791],,,,,,,, +GARD:17513,Active,Orphanet,ORPHA:331190,Disorder,[Disease],Immunodeficiency due to ficolin3 deficiency,,"Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.",[613860],,,,,,,, +GARD:17514,Active,Orphanet,ORPHA:331226,Disorder,[Disease],Susceptibility to infection due to TYK2 deficiency,[Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency],"Susceptibility to infection due to TYK2 deficiency is a rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.",[611521],,,,,,,, +GARD:17515,Active,Orphanet,ORPHA:352333,Disorder,[Disease],Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,"[Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome, ELOVL4-related neuro ichthyosis]","A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.",[614457],,,,,,,, +GARD:17516,Active,Orphanet,ORPHA:352403,Disorder,[Disease],Spectrin-associated autosomal recessive cerebellar ataxia,"[Ataxie spinocérébelleuse à début infantile avec retard psychomoteur, Autosomal recessive spinocerebellar ataxia type 14, Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome, SCAR14, SPARCA, SPARCA1, Spectrin-associated autosomal recessive cerebellar ataxia type 1]","Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).",[615386],,,,,,,, +GARD:17517,Active,Orphanet,ORPHA:352447,Disorder,[Disease],Progressive external ophthalmoplegia-myopathy-emaciation syndrome,"[Mitochondrial DNA maintenance syndrome due to MGME1 deficiency, PEO-myopathy-emaciation syndrome, mtDNA maintenance syndrome due to MGME1 deficiency]","Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.",[615084],,,,,,,, +GARD:17518,Active,Orphanet,ORPHA:352470,Disorder,[Disease],DNA2-related mitochondrial DNA deletion syndrome,"[Mitochondrial DNA deletion syndrome with limb-girdle weakness, Mitochondrial DNA deletion syndrome with progressive myopathy, mtDNA deletion syndrome with limb-girdle weakness, mtDNA deletion syndrome with progressive myopathy]","A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.",[615156],,,,,,,, +GARD:17519,Active,Orphanet,ORPHA:352479,Disorder,[Disease],ISPD-related limb-girdle muscular dystrophy R20,"[Autosomal recessive limb-girdle muscular dystrophy type 2U, ISPD-related LGMD R20, LGMD type 2U, LGMD2U, Limb-girdle muscular dystrophy type 2U]","A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.",[616052],,,,,,,, +GARD:17520,Active,Orphanet,ORPHA:352490,Disorder,[Disease],Autism spectrum disorder due to AUTS2 deficiency,"[ASD due to AUTS2 deficiency, AUTS2 syndrome]","A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.",[615834],,,,,,,, +GARD:17521,Active,Orphanet,ORPHA:352582,Disorder,[Disease],Familial infantile myoclonic epilepsy,"[FIME, Familial infantile myoclonus epilepsy]","A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.",[605021],,,,,,,, +GARD:17522,Active,Orphanet,ORPHA:352596,Disorder,[Disease],Progressive myoclonic epilepsy with dystonia,"[PMED, Progressive myoclonus epilepsy with dystonia]","Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.",[615338],,,,,,,, +GARD:17523,Active,Orphanet,ORPHA:352654,Disorder,[Disease],Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,,"A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.",[615491],,,,,,,, +GARD:17524,Active,Orphanet,ORPHA:352657,Disorder,[Disease],Hereditary benign intraepithelial dyskeratosis,"[HBID, Hereditary benign corneal intraepithelial dyskeratosis]","A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching, superficial corneal scarring, excessive lacrimation, photophobia and visual loss due to corneal opacity. Histologically, both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis.",[127600],,,,,,,, +GARD:17525,Active,Orphanet,ORPHA:352662,Disorder,[Disease],Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,,"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is a rare, genetic, corneal dystrophy disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.",[615225],,,,,,,, +GARD:17526,Active,Orphanet,ORPHA:352682,Disorder,[Disease],Cobblestone lissencephaly without muscular or ocular involvement,"[Cobblestone lissencephaly without muscular or eye involvement, Lissencephaly type 2 without muscular or eye involvement, Lissencephaly type 2 without muscular or ocular involvement]","A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.",[615191],,,,,,,, +GARD:17527,Active,Orphanet,ORPHA:352709,Subtype of disorder,[Etiological subtype],CLN13 disease,,,[615362],,,,,,,, +GARD:17528,Active,Orphanet,ORPHA:352712,Disorder,[Disease],Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,[FILS syndrome],"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.",[615139],,,,,,,, +GARD:17529,Active,Orphanet,ORPHA:352718,Disorder,[Disease],Progressive retinal dystrophy due to retinol transport defect,[Retinol dystrophy-iris coloboma-comedogenic acne syndrome],"Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.",[615147],,,,,,,, +GARD:17530,Active,Orphanet,ORPHA:352737,Subtype of disorder,[Clinical subtype],Temperature-sensitive oculocutaneous albinism type 1,"[OCA1-TS, TS OCA type 1]","An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted.",[606952],,,,,,,, +GARD:17531,Active,Orphanet,ORPHA:352745,Disorder,[Disease],Oculocutaneous albinism type 7,[OCA7],"A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.",[615179],,,,,,,, +GARD:17532,Active,Orphanet,ORPHA:353217,Disorder,[Disease],Epileptic encephalopathy with global cerebral demyelination,"[AGC1 deficiency, Mitochondrial aspartate-glutamate carrier 1 deficiency]","Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.",[612949],,,,,,,, +GARD:17533,Active,Orphanet,ORPHA:353220,Disorder,[Disease],Familial primary localized cutaneous amyloidosis,[FPLCA],"A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis).","[105250, 613955]",,,,,,,, +GARD:17534,Active,Orphanet,ORPHA:353277,Subtype of disorder,[Etiological subtype],Rubinstein-Taybi syndrome due to CREBBP mutations,,,[180849],,,,,,,, +GARD:17535,Active,Orphanet,ORPHA:353284,Subtype of disorder,[Etiological subtype],Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,,,[613684],,,,,,,, +GARD:17536,Active,Orphanet,ORPHA:353308,Subtype of disorder,[Clinical subtype],"Pyruvate carboxylase deficiency, infantile type",[Pyruvate carboxylase deficiency type A],"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.",[266150],,,,,,,, +GARD:17537,Active,Orphanet,ORPHA:353314,Subtype of disorder,[Clinical subtype],"Pyruvate carboxylase deficiency, severe neonatal type",[Pyruvate carboxylase deficiency type B],"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.",[266150],,,,,,,, +GARD:17538,Active,Orphanet,ORPHA:353320,Subtype of disorder,[Clinical subtype],"Pyruvate carboxylase deficiency, benign type",[Pyruvate carboxylase deficiency type C],"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.",[266150],,,,,,,, +GARD:17539,Active,Orphanet,ORPHA:353327,Subtype of disorder,[Etiological subtype],Congenital myasthenic syndromes with glycosylation defect,,,"[614750, 616228, 610542, 616227]",,,,,,,, +GARD:17540,Active,Orphanet,ORPHA:356978,Disorder,[Disease],"D,L-2-hydroxyglutaric aciduria","[Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia, Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria, D,L-2-HGA, D,L-2-hydroxyglutaric acidemia]","A rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.",[615182],,,,,,,, +GARD:17541,Active,Orphanet,ORPHA:356996,Disorder,[Disease],ANK3-related intellectual disability-sleep disturbance syndrome,,"A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported.",[615493],,,,,,,, +GARD:17542,Active,Orphanet,ORPHA:357001,Disorder,[Malformation syndrome],19p13.13 microdeletion syndrome,"[Del(19)(p13.13), Monosomy 19p13.13]","A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).",[613638],,,,,,,, +GARD:17543,Active,Orphanet,ORPHA:357008,Disorder,[Disease],Hemolytic uremic syndrome with DGKE deficiency,[HUS with DGKE deficiency],,[615008],,,,,,,, +GARD:17544,Active,Orphanet,ORPHA:357027,Subtype of disorder,[Clinical subtype],Hereditary retinoblastoma,,,[180200],,,,,,,, +GARD:17545,Active,Orphanet,ORPHA:357034,Subtype of disorder,[Clinical subtype],Non-hereditary retinoblastoma,,,[180200],,,,,,,, +GARD:17546,Active,Orphanet,ORPHA:357074,Subtype of disorder,[Clinical subtype],"Autosomal recessive cutis laxa type 2, classic type","[ARCL2, Debré type, ARCL2, classic type, Autosomal recessive cutis laxa type 2, Debré type]",,"[617402, 219200, 617403]",,,,,,,, +GARD:17547,Active,Orphanet,ORPHA:357158,Disorder,[Disease],Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,[Macroblepharon-ectropion-hypertelorism-macrostomia syndrome],"Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anterverted nares, abnormal dentition and capillary hemangioma.",[602562],,,,,,,, +GARD:17548,Active,Orphanet,ORPHA:357175,Disorder,[Malformation syndrome],Short ulna-dysmorphism-hypotonia-intellectual disability syndrome,,"Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.",[615162],,,,,,,, +GARD:17549,Active,Orphanet,ORPHA:357237,Disorder,[Disease],Severe combined immunodeficiency due to CARD11 deficiency,[SCID due to CARD11 deficiency],"Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.",[615206],,,,,,,, +GARD:17550,Active,Orphanet,ORPHA:357329,Disorder,[Disease],Combined immunodeficiency due to IL21R deficiency,,"A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxicity to lymphopenia) due to IL21R deficiency, manifesting with recurrent respiratory and/or gastrointestinal tract infections and, in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.",[615207],,,,,,,, +GARD:17551,Active,Orphanet,ORPHA:357332,Disorder,[Malformation syndrome],Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,"[Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome, Wahab syndrome]","A rare, genetic, congenital limb malformation syndrome characterized by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet.",[615170],,,,,,,, +GARD:17552,Active,Orphanet,ORPHA:363400,Disorder,[Disease],Severe neurodegenerative syndrome with lipodystrophy,[Severe neurodegenerative syndrome due to BSCL2 deficiency],"Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated.",[615924],,,,,,,, +GARD:17553,Active,Orphanet,ORPHA:363409,Disorder,[Disease],Fetal akinesia-cerebral and retinal hemorrhage syndrome,"[LCCS5, Lethal congenital contracture syndrome type 5]","Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.",[615368],,,,,,,, +GARD:17554,Active,Orphanet,ORPHA:363412,Disorder,[Disease],Hypomyelination with brain stem and spinal cord involvement and leg spasticity,[HBSL],"Hypomyelination with brain stem and spinal cord involvement and leg spasticity is a rare, genetic, leukodystrophy disorder characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.",[615281],,,,,,,, +GARD:17555,Active,Orphanet,ORPHA:363424,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 3,"[IBA57 deficiency, MMDS3]","A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occiîtal lobes.",[615330],,,,,,,, +GARD:17556,Active,Orphanet,ORPHA:363429,Disorder,[Disease],Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome,,"A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.","[614831, 616204]",,,,,,,, +GARD:17557,Active,Orphanet,ORPHA:363432,Subtype of disorder,[Clinical subtype],Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,"[Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency, SCAR18]","A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.",[616204],,,,,,,, +GARD:17558,Active,Orphanet,ORPHA:363444,Disorder,[Malformation syndrome],THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,"[BBIS, Beaulieu-Boycott-Innes syndrome]","A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent.",[613680],,,,,,,, +GARD:17559,Active,Orphanet,ORPHA:363447,Disorder,[Disease],Autosomal dominant childhood-onset proximal spinal muscular atrophy,"[Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy, SMALED]","A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.","[615290, 158600]",,,,,,,, +GARD:17560,Active,Orphanet,ORPHA:363483,Disorder,[Disease],Testicular teratoma,[Teratoma of the testis],"A rare neoplastic disease characterized by the presence of a testicular tumor composed of several, well-differentiated or immature, tissues derived from one or more of the 3 germinal layers. Patients typically present unilateral (occasionally bilateral) painless testicular swelling or a palpable testicular nodule/mass.",[273300],,,,,,,, +GARD:17561,Active,Orphanet,ORPHA:363494,Disorder,[Disease],Non-seminomatous germ cell tumor of testis,"[Non-dysgerminomatous germ cell tumor of testis, Testicular non seminomatous germ cell tumor, Testicular non-dysgerminomatous germ cell tumor]","A form of testicular germ cell tumor occurring in the third decade of life with a usually painless unilateral mass in the scrotum or, in some cases, with gynaecomastia and/or back and flack pain. The clinical course is more aggressive than testicular seminomatous germ cell tumors with rapid involvement of blood vessels and a poorer prognosis. Histologically, the tumour can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components.",[273300],,,,,,,, +GARD:17562,Active,Orphanet,ORPHA:363523,Disorder,[Disease],Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,[Shaheen syndrome],"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.",[615328],,,,,,,, +GARD:17563,Active,Orphanet,ORPHA:363528,Disorder,[Disease],Intellectual disability-strabismus syndrome,,"Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.",[615286],,,,,,,, +GARD:17564,Active,Orphanet,ORPHA:363534,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","[mtDNA depletion syndrome, hepatocerebrorenal form]","Mitochondrial DNA depletion syndrome, hepatocerebrorenal form is a rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.",[271245],,,,,,,, +GARD:17565,Active,Orphanet,ORPHA:363540,Disorder,[Disease],Leukoencephalopathy with mild cerebellar ataxia and white matter edema,,"A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging, MRI), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.",[615651],,,,,,,, +GARD:17566,Active,Orphanet,ORPHA:363611,Disorder,[Disease],CTCF-related neurodevelopmental disorder,,"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.",[615502],,,,,,,, +GARD:17567,Active,Orphanet,ORPHA:363654,Disorder,[Disease],X-linked parkinsonism-spasticity syndrome,[XPDS],"A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.",[300911],,,,,,,, +GARD:17568,Active,Orphanet,ORPHA:363677,Disorder,[Disease],Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,,"A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.",[605637],,,,,,,, +GARD:17569,Active,Orphanet,ORPHA:363694,Disorder,[Disease],Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,[HUPRA syndrome],"Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.",[613845],,,,,,,, +GARD:17570,Active,Orphanet,ORPHA:363700,Subtype of disorder,[Etiological subtype],Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,[Von Recklinghausen disease due to NF1 mutation or intragenic deletion],,[162200],,,,,,,, +GARD:17571,Active,Orphanet,ORPHA:363705,Disorder,[Disease],Craniofaciofrontodigital syndrome,[Cantu craniofaciofrontodigital syndrome],"Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).",[114620],,,,,,,, +GARD:17572,Active,Orphanet,ORPHA:363717,Subtype of disorder,[Clinical subtype],Alexander disease type I,[AxD type I],"An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.",[203450],,,,,,,, +GARD:17573,Active,Orphanet,ORPHA:363722,Subtype of disorder,[Clinical subtype],Alexander disease type II,[AxD type II],"An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.",[203450],,,,,,,, +GARD:17574,Active,Orphanet,ORPHA:363727,Disorder,[Disease],X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,,"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.",[300835],,,,,,,, +GARD:17575,Active,Orphanet,ORPHA:363741,Disorder,[Disease],Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome,,"Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome is a rare, genetic, syndromic microphthalmia disorder characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.",[601794],,,,,,,, +GARD:17576,Active,Orphanet,ORPHA:363958,Subtype of disorder,[Etiological subtype],17q21.31 microdeletion syndrome,"[Del(17)(q21.31), Monosomy 17q21.31]",,[610443],,,,,,,, +GARD:17577,Active,Orphanet,ORPHA:363972,Disorder,[Malformation syndrome],Noonan syndrome-like disorder with juvenile myelomonocytic leukemia,"[CBL syndrome, Noonan syndrome-like disorder with JMML]","A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects, but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome.",[613563],,,,,,,, +GARD:17578,Active,Orphanet,ORPHA:363981,Disorder,[Disease],Charcot-Marie-Tooth disease type 4B3,"[CMT4B3, Charcot-Marie-Tooth disease with focally folded myelin]","Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).",[615284],,,,,,,, +GARD:17579,Active,Orphanet,ORPHA:363992,Disorder,[Disease],Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,[15q26.3 microdeletion syndrome],"A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.",[613195],,,,,,,, +GARD:17580,Active,Orphanet,ORPHA:363999,Subtype of disorder,[Clinical subtype],Non-immune hydrops fetalis,"[NIHF, Non-immune HF, Non-immune fetal edema, Non-immune fetal hydrops]","Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.",[236750],,,,,,,, +GARD:17581,Active,Orphanet,ORPHA:364028,Disorder,[Disease],X-linked intellectual disability due to GRIA3 mutations,,"A rare, genetic, X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, ren arcuatus, delayed motor development and disturbed sleep-wake cycle.",[300699],,,,,,,, +GARD:17582,Active,Orphanet,ORPHA:364063,Disorder,[Disease],Infantile epileptic-dyskinetic encephalopathy,,"A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.",[308350],,,,,,,, +GARD:17583,Active,Orphanet,ORPHA:364577,Disorder,[Malformation syndrome],Intellectual disability-brachydactyly-Pierre Robin syndrome,,"Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.",[608670],,,,,,,, +GARD:17584,Active,Orphanet,ORPHA:369837,Disorder,[Malformation syndrome],Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,"[Congenital disorder of glycosylation due to PIGT deficiency, MCAHS type 3, Multiple congenital anomalies-hypotonia-seizures syndrome type 3, PIGT-CDG]","A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.",[615398],,,,,,,, +GARD:17585,Active,Orphanet,ORPHA:369852,Disorder,[Disease],Congenital neutropenia-myelofibrosis-nephromegaly syndrome,"[Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome, VPS45 deficiency]","Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG).",[615285],,,,,,,, +GARD:17586,Active,Orphanet,ORPHA:369861,Disorder,[Disease],Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,[SIFD syndrome],"A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.",[616084],,,,,,,, +GARD:17587,Active,Orphanet,ORPHA:369867,Disorder,[Disease],Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,[RI-CMT type C],"A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.",[615376],,,,,,,, +GARD:17588,Active,Orphanet,ORPHA:369891,Disorder,[Malformation syndrome],Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,[MED13L-related intellectual disability syndrome],"A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features.",[616789],,,,,,,, +GARD:17589,Active,Orphanet,ORPHA:369913,Disorder,[Disease],Combined oxidative phosphorylation defect type 17,[COXPD17],"Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.",[615440],,,,,,,, +GARD:17590,Active,Orphanet,ORPHA:369920,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 9,[PCH9],"Pontocerebellar hypoplasia type 9 is a rare, genetic, subtype of non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.",[615809],,,,,,,, +GARD:17591,Active,Orphanet,ORPHA:369929,Disorder,[Disease],Primary hyperaldosteronism-seizures-neurological abnormalities syndrome,,"A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability).",[615474],,,,,,,, +GARD:17592,Active,Orphanet,ORPHA:369939,Disorder,[Malformation syndrome],Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,[Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome],"A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).",[300475],,,,,,,, +GARD:17593,Active,Orphanet,ORPHA:369970,Disorder,[Disease],Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,[MMCAT syndrome],"Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.",[615458],,,,,,,, +GARD:17594,Active,Orphanet,ORPHA:369992,Disorder,[Disease],Severe dermatitis-multiple allergies-metabolic wasting syndrome,"[Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome, SAM syndrome]","Severe dermatitis-multiple allergies-metabolic wasting syndrome is a rare, genetic, epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.",[615508],,,,,,,, +GARD:17595,Active,Orphanet,ORPHA:369999,Disorder,[Disease],Diffuse palmoplantar keratoderma with painful fissures,,"Diffuse palmoplantar keratoderma with painful fissures is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.",[148700],,,,,,,, +GARD:17596,Active,Orphanet,ORPHA:370002,Disorder,[Disease],Focal palmoplantar keratoderma with joint keratoses,,"Focal palmoplantar keratoderma with joint keratoses is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.",[148700],,,,,,,, +GARD:17597,Active,Orphanet,ORPHA:370022,Disorder,[Disease],Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,[Poretti-Boltshauser syndrome],"A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.",[615960],,,,,,,, +GARD:17598,Active,Orphanet,ORPHA:370091,Disorder,[Disease],Oculocutaneous albinism type 5,[OCA5],"A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.",[615312],,,,,,,, +GARD:17599,Active,Orphanet,ORPHA:370097,Disorder,[Disease],Oculocutaneous albinism type 6,[OCA6],"A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.",[113750],,,,,,,, +GARD:176,Active,Orphanet,ORPHA:592,Disorder,[Disease],Macrophagic myofasciitis,[MMF],"A rare acquired skeletal muscle disease characterized by infiltration of the epimysium, perimysium, and perifascicular endomysium by macrophages with crystal inclusions composed of aluminum salts at the site of a previous vaccination (most commonly the deltoid muscle). Muscle necrosis is typically absent. Patients may present with myalgias, arthralgias, muscle weakness, chronic fatigue, asthenia, fever, and cognitive dysfunction. Signs and symptoms usually develop slowly over several months.",,,,,,Macrophagic myofasciitis,TRUE,FALSE,Active +GARD:17600,Active,Orphanet,ORPHA:370334,Disorder,[Disease],Extraskeletal Ewing sarcoma,"[EOE, Extraosseous Ewing sarcoma, Extraosseous Ewing tumor, Extraskeletal Ewing tumor]","Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs.",[612219],,,,,,,, +GARD:17601,Active,Orphanet,ORPHA:370348,Disorder,[Disease],Peripheral primitive neuroectodermal tumor,"[PPNET, Peripheral PNET, Peripheral neuroepithelioma]","A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone.",[612219],,,,,,,, +GARD:17602,Active,Orphanet,ORPHA:370921,Disorder,[Disease],STT3A-CDG,"[CDG syndrome type Iw, CDG-Iw, CDG1W, Congenital disorder of glycosylation type 1w, Congenital disorder of glycosylation type Iw]","STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).",[615596],,,,,,,, +GARD:17603,Active,Orphanet,ORPHA:370924,Disorder,[Disease],STT3B-CDG,"[CDG syndrome type Ix, CDG-Ix, CDG1X, Carbohydrate deficient glycoprotein syndrome type Ix, Congenital disorder of glycosylation type 1x, Congenital disorder of glycosylation type Ix]","STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).",[615597],,,,,,,, +GARD:17604,Active,Orphanet,ORPHA:370943,Disorder,[Disease],Autism spectrum disorder-epilepsy-arthrogryposis syndrome,[SLC35A3-CDG],"A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.",[615553],,,,,,,, +GARD:17605,Active,Orphanet,ORPHA:370959,Disorder,[Disease],Congenital muscular dystrophy with cerebellar involvement,"[CMD with cerebellar involvement, CMD-CRB]","Congenital muscular dystrophy with cerebellar involvement is a rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.","[613151, 613155, 615351, 613156, 606612]",,,,,,,, +GARD:17606,Active,Orphanet,ORPHA:370968,Disorder,[Disease],Congenital muscular dystrophy with intellectual disability,"[CMD with intellectual disability, CMD-MR]","Congenital muscular dystrophy with intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.","[613155, 608840, 615351, 613156, 618992, 606612]",,,,,,,, +GARD:17607,Active,Orphanet,ORPHA:370980,Disorder,[Disease],Congenital muscular dystrophy without intellectual disability,"[CMD without intellectual disability, CMD-no MR, Congenital muscular dystrophy-dystroglycanopathy without intellectual disability]","Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.","[613152, 606612]",,,,,,,, +GARD:17608,Active,Orphanet,ORPHA:370997,Disorder,[Disease],Muscle-eye-brain disease with bilateral multicystic leucodystrophy,[MEB disease with bilateral multicystic leucodystrophy],"A rare, genetic, congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.",[616538],,,,,,,, +GARD:17609,Active,Orphanet,ORPHA:371364,Disorder,[Disease],Hypotonia-speech impairment-severe cognitive delay syndrome,"[IHPRF syndrome, Infantile hypotonia-psychomotor retardation-characteristic facies syndrome]","Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).","[615419, 616801]",,,,,,,, +GARD:17610,Active,Orphanet,ORPHA:371428,Disorder,[Disease],Multicentric osteolysis-nodulosis-arthropathy spectrum,"[MONA spectrum, NAO syndrome, Nodulosis-arthropathy-osteolysis syndrome, Torg-Winchester syndrome]","A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.","[259600, 277950]",,,,,,,, +GARD:17611,Active,Orphanet,ORPHA:391307,Disorder,[Malformation syndrome],Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,,"Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.",[615541],,,,,,,, +GARD:17612,Active,Orphanet,ORPHA:391311,Disorder,[Disease],Susceptibility to viral and mycobacterial infections due to STAT1 deficiency,"[Predisposition to severe viral infection due to STAT1 deficiency, STAT1 deficiency]","A rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.",[613796],,,,,,,, +GARD:17613,Active,Orphanet,ORPHA:391320,Subtype of disorder,[Etiological subtype],East Texas bleeding disorder,,"East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.",[605913],,,,,,,, +GARD:17614,Active,Orphanet,ORPHA:391330,Disorder,[Disease],X-linked osteoporosis with fractures,,"X-linked osteoporosis with fractures is a rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.",[300910],,,,,,,, +GARD:17615,Active,Orphanet,ORPHA:391348,Disorder,[Disease],Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,,"Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.",[615578],,,,,,,, +GARD:17616,Active,Orphanet,ORPHA:391351,Disorder,[Disease],SURF1-related Charcot-Marie-Tooth disease type 4,"[CMT4K, Charcot-Marie-Tooth disease type 4K, SURF1-related CMT4, SURF1-related severe demyelinating Charcot-Marie-Tooth disease]","A subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).",[616684],,,,,,,, +GARD:17617,Active,Orphanet,ORPHA:391376,Disorder,[Disease],Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,[Asparagine synthetase deficiency],"Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.",[615574],,,,,,,, +GARD:17618,Active,Orphanet,ORPHA:391389,Subtype of disorder,[Clinical subtype],Familial episodic pain syndrome with predominantly upper body involvement,,"Familial episodic pain syndrome with predominantly upper body involvement is a subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence.",[615040],,,,,,,, +GARD:17619,Active,Orphanet,ORPHA:391392,Subtype of disorder,[Clinical subtype],Familial episodic pain syndrome with predominantly lower limb involvement,,"Familial episodic pain syndrome with predominantly lower limb involvement is a subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area.",[615552],,,,,,,, +GARD:17620,Active,Orphanet,ORPHA:391408,Disorder,[Disease],Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,,"Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.","[616033, 616817]",,,,,,,, +GARD:17621,Active,Orphanet,ORPHA:391411,Disorder,[Disease],Atypical juvenile parkinsonism,,"A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.","[615528, 615530]",,,,,,,, +GARD:17622,Active,Orphanet,ORPHA:391428,Subtype of disorder,[Clinical subtype],"HSD10 disease, infantile type","[2-methyl-3-hydroxybutyric aciduria, classic type, 2-methyl-3-hydroxybutyric aciduria, infantile type, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type, HSD10 deficiency, classic type, HSD10 deficiency, infantile type, HSD10 disease, classic type, MHBD deficiency, classic type, MHBD deficiency, infantile type]","HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age.",[300438],,,,,,,, +GARD:17623,Active,Orphanet,ORPHA:391457,Subtype of disorder,[Clinical subtype],"HSD10 disease, neonatal type","[2-methyl-3-hydroxybutyric aciduria, neonatal type, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type, HSD10 deficiency, neonatal type, MHBD deficiency, neonatal type]","HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.",[300438],,,,,,,, +GARD:17624,Active,Orphanet,ORPHA:391641,Subtype of disorder,[Clinical subtype],Feingold syndrome type 1,"[Brunner-Winter syndrome type 1, Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1, FGLDS1, FS1, MMT type 1, MODED syndrome type 1, Microcephaly-digital anomalies-normal intelligence syndrome type 1, Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1, Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1, ODED syndrome type 1, Oculo-digito-esophageal-duodenal syndrome type 1]","A rare, genetic congenital malformation syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.",[164280],,,,,,,, +GARD:17625,Active,Orphanet,ORPHA:391646,Subtype of disorder,[Clinical subtype],Feingold syndrome type 2,"[Brachydactyly-short stature-microcephaly syndrome, Brunner-Winter syndrome type 2, FGLDS2, FS2, MMT type 2, Microcephaly-digital anomalies-normal intelligence syndrome type 2, Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2]","A rare, genetic congenital malformation syndrome characterized by microcephaly, short stature, digital anomalies (brachymesophalangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs) and mild intellectual disabilities but that lacks the manifestations of gastrointestinal atresia.",[614326],,,,,,,, +GARD:17626,Active,Orphanet,ORPHA:394529,Subtype of disorder,[Clinical subtype],"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type","[Glutaric aciduria type 2, severe neonatal type, MAD deficiency, severe neonatal type, MADD, severe neonatal type]",,"[231680, 255100]",,,,,,,, +GARD:17627,Active,Orphanet,ORPHA:394532,Subtype of disorder,[Clinical subtype],"Multiple acyl-CoA dehydrogenase deficiency, mild type","[Glutaric aciduria type 2, mild type, MAD deficiency, mild type, MADD, mild type]",,"[231680, 255100]",,,,,,,, +GARD:17628,Active,Orphanet,ORPHA:397590,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to a point mutation,,,"[618907, 618908, 616489]",,,,,,,, +GARD:17629,Active,Orphanet,ORPHA:397593,Disorder,[Disease],Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,,"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.",[615595],,,,,,,, +GARD:17630,Active,Orphanet,ORPHA:397612,Disorder,[Malformation syndrome],Macrocephaly-developmental delay syndrome,,"Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.",[615637],,,,,,,, +GARD:17631,Active,Orphanet,ORPHA:397615,Subtype of disorder,[Etiological subtype],Obesity due to CEP19 deficiency,,"A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.",[615703],,,,,,,, +GARD:17632,Active,Orphanet,ORPHA:397618,Disorder,[Disease],Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,[FHONDA syndrome],"Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome is a rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.",[609218],,,,,,,, +GARD:17633,Active,Orphanet,ORPHA:397623,Disorder,[Malformation syndrome],Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,[SAMS syndrome],"Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.",[602471],,,,,,,, +GARD:17634,Active,Orphanet,ORPHA:397685,Disorder,[Disease],Familial hyperprolactinemia,[Familial isolated prolactin receptor deficiency],"Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.",[615555],,,,,,,, +GARD:17635,Active,Orphanet,ORPHA:397692,Disorder,[Disease],Hereditary isolated aplastic anemia,,"Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.",[616553],,,,,,,, +GARD:17636,Active,Orphanet,ORPHA:397709,Disorder,[Malformation syndrome],Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,"[Autosomal recessive spinocerebellar ataxia type 20, Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome, SCAR20]","Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.",[616354],,,,,,,, +GARD:17637,Active,Orphanet,ORPHA:397715,Disorder,[Malformation syndrome],Joubert syndrome with Jeune asphyxiating thoracic dystrophy,"[JBTS with JATD, Joubert syndrome with JATD]","A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.","[615636, 616546]",,,,,,,, +GARD:17638,Active,Orphanet,ORPHA:397735,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2U,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation, CMT2U]","A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.",[616280],,,,,,,, +GARD:17639,Active,Orphanet,ORPHA:397744,Disorder,[Disease],Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,[Peripheral neuropathy-myopathy-hoarseness-deafness syndrome],"Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.",[614369],,,,,,,, +GARD:17640,Active,Orphanet,ORPHA:397758,Disorder,[Disease],Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,[Retinal dystrophy with inner nuclear layer and ganglion cell anomalies],"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.",[616079],,,,,,,, +GARD:17641,Active,Orphanet,ORPHA:397787,Disorder,[Disease],Severe combined immunodeficiency due to IKK2 deficiency,[SCID due to IKK2 deficiency],"Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.","[618204, 615592]",,,,,,,, +GARD:17642,Active,Orphanet,ORPHA:397927,Disorder,[Malformation syndrome],Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,,"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.",[615709],,,,,,,, +GARD:17643,Active,Orphanet,ORPHA:397937,Disorder,[Disease],Polyglucosan body myopathy type 1,[PGBM1],"Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.",[615895],,,,,,,, +GARD:17644,Active,Orphanet,ORPHA:397946,Disorder,[Disease],Autosomal spastic paraplegia type 58,"[Autosomal spastic ataxia type 2, SPAX2, SPG58]","A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.",[611302],,,,,,,, +GARD:17645,Active,Orphanet,ORPHA:397951,Disorder,[Disease],Microcephaly-thin corpus callosum-intellectual disability syndrome,,"A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.",[615599],,,,,,,, +GARD:17646,Active,Orphanet,ORPHA:397959,Disorder,[Disease],TCR-alpha-beta-positive T-cell deficiency,[TCR-alpha-beta+ T-cell deficiency],"TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.",[615387],,,,,,,, +GARD:17647,Active,Orphanet,ORPHA:397964,Disorder,[Disease],Combined immunodeficiency due to MALT1 deficiency,,"Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.",[615468],,,,,,,, +GARD:17648,Active,Orphanet,ORPHA:397973,Disorder,[Disease],Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,[MOMES syndrome],"Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth.",[606772],,,,,,,, +GARD:17649,Active,Orphanet,ORPHA:398173,Subtype of disorder,[Clinical subtype],Focal facial dermal dysplasia type II,"[FFDD type II, FFDD2, Focal facial dermal dysplasia 2, Brauer-Setleis type]","Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.",[614973],,,,,,,, +GARD:17650,Active,Orphanet,ORPHA:398189,Subtype of disorder,[Clinical subtype],Focal facial dermal dysplasia type IV,"[FFDD type IV, FFDD4, Focal facial dermal dysplasia 4, Focal facial preauricular dysplasia]","Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.",[614974],,,,,,,, +GARD:17651,Active,Orphanet,ORPHA:399058,Disorder,[Disease],Alpha-B crystallin-related late-onset myopathy,"[Alpha-B crystallin-related late-onset distal myopathy, Late-onset distal crystallinopathy]","A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes.",[608810],,,,,,,, +GARD:17652,Active,Orphanet,ORPHA:399086,Disorder,[Disease],Finnish upper limb-onset distal myopathy,"[Distal myopathy type 3, MPD3]","Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.",[610099],,,,,,,, +GARD:17653,Active,Orphanet,ORPHA:399096,Disorder,[Disease],Distal anoctaminopathy,"[MMD3, Miyoshi muscular dystrophy type 3]","Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.",[613319],,,,,,,, +GARD:17654,Active,Orphanet,ORPHA:399808,Disorder,[Disease],Male infertility with teratozoospermia due to single gene mutation,,"Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.","[102530, 619102, 243060, 615413, 301059, 619144, 619177, 613958, 619258, 619094, 619145, 619044, 619095]",,,,,,,, +GARD:17655,Active,Orphanet,ORPHA:401764,Disorder,[Disease],Pancytopenia-developmental delay syndrome,[Trilineage bone marrow failure-developmental delay syndrome],"Pancytopenia-developmental delay syndrome is a rare, genetic, hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.",[615715],,,,,,,, +GARD:17656,Active,Orphanet,ORPHA:401780,Disorder,[Disease],Autosomal recessive spastic paraplegia type 61,[SPG61],"Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.",[615685],,,,,,,, +GARD:17657,Active,Orphanet,ORPHA:401785,Disorder,[Disease],Autosomal recessive spastic paraplegia type 62,[SPG62],"A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.",[615681],,,,,,,, +GARD:17658,Active,Orphanet,ORPHA:401805,Disorder,[Disease],Autosomal recessive spastic paraplegia type 63,[SPG63],"Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.",[615686],,,,,,,, +GARD:17659,Active,Orphanet,ORPHA:401810,Disorder,[Disease],Autosomal recessive spastic paraplegia type 64,[SPG64],"Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.",[615683],,,,,,,, +GARD:17660,Active,Orphanet,ORPHA:401849,Disorder,[Disease],Autosomal spastic paraplegia type 72,[SPG72],"Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.",[615625],,,,,,,, +GARD:17661,Active,Orphanet,ORPHA:401869,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 1,"[MMDS1, NFU1 deficiency]","A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy.",[605711],,,,,,,, +GARD:17662,Active,Orphanet,ORPHA:401874,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 2,"[BOLA3 deficiency, MMDS2]","A rare mitochondrial disease characterized by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinemia, and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy.",[614299],,,,,,,, +GARD:17663,Active,Orphanet,ORPHA:401942,Disorder,[Malformation syndrome],Familial median cleft of the upper and lower lips,,"Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.",[615892],,,,,,,, +GARD:17664,Active,Orphanet,ORPHA:401945,Disorder,[Disease],Moyamoya disease with early-onset achalasia,,"Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.",[615750],,,,,,,, +GARD:17665,Active,Orphanet,ORPHA:401953,Disorder,[Disease],Episodic ataxia with slurred speech,[Episodic ataxia type 8],"Episodic ataxia with slurred speech is a rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.",[616055],,,,,,,, +GARD:17666,Active,Orphanet,ORPHA:401973,Disorder,[Malformation syndrome],MEND syndrome,[Male EBP disorder with neurological defects],"MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.",[300960],,,,,,,, +GARD:17667,Active,Orphanet,ORPHA:401979,Disorder,[Malformation syndrome],"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.",[613320],,,,,,,, +GARD:17668,Active,Orphanet,ORPHA:401986,Disorder,[Malformation syndrome],1p31p32 microdeletion syndrome,"[Del(1)(p31p32), Monosomy 1p31p32]","1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.",[613735],,,,,,,, +GARD:17669,Active,Orphanet,ORPHA:402003,Disorder,[Disease],Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,,"A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.",[615735],,,,,,,, +GARD:17670,Active,Orphanet,ORPHA:402075,Disorder,[Morphological anomaly],Familial bicuspid aortic valve,[Familial BAV],"Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).","[614823, 109730]",,,,,,,, +GARD:17671,Active,Orphanet,ORPHA:402082,Disorder,[Disease],Progressive myoclonic epilepsy type 5,"[EPM5, PME type 5, Progressive myoclonus epilepsy type 5]","A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.",[607459],,,,,,,, +GARD:17672,Active,Orphanet,ORPHA:404437,Disorder,[Malformation syndrome],Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,,"Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.",[615760],,,,,,,, +GARD:17673,Active,Orphanet,ORPHA:404440,Disorder,[Malformation syndrome],Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency,,"Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.",[615761],,,,,,,, +GARD:17674,Active,Orphanet,ORPHA:404443,Disorder,[Malformation syndrome],Tatton-Brown-Rahman syndrome,"[DNMT3A-related overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome]","A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.",[615879],,,,,,,, +GARD:17675,Active,Orphanet,ORPHA:404466,Disorder,[Disease],Female infertility due to zona pellucida defect,,"Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.","[615774, 618353, 617712]",,,,,,,, +GARD:17676,Active,Orphanet,ORPHA:404476,Disorder,[Malformation syndrome],Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,[GLOW syndrome],"Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior.",[618272],,,,,,,, +GARD:17677,Active,Orphanet,ORPHA:404493,Disorder,[Disease],Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,"[SCAR23, Spinocerebellar ataxia autosomal recessive type 23]","A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.",[616949],,,,,,,, +GARD:17678,Active,Orphanet,ORPHA:404499,Disorder,[Disease],Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,"[Autosomal recessive spinocerebellar ataxia type 15, SCAR15, Salih ataxia]","An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.",[615705],,,,,,,, +GARD:17679,Active,Orphanet,ORPHA:404546,Disorder,[Disease],DITRA,"[Deficiency of IL-36R antagonist, Deficiency of IL-36Ra]","A rare, genetic, autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated.",[614204],,,,,,,, +GARD:17680,Active,Orphanet,ORPHA:411493,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 10,"[CLP1-related pontocerebellar hypoplasia, PCH10]","Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.",[615803],,,,,,,, +GARD:17681,Active,Orphanet,ORPHA:411536,Subtype of disorder,[Clinical subtype],Mild phosphoribosylpyrophosphate synthetase superactivity,"[Mild PRPP synthetase superactivity, Mild PRPS1 superactivity]","A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria, leading to urolithiasis and gout.",[300661],,,,,,,, +GARD:17682,Active,Orphanet,ORPHA:411543,Subtype of disorder,[Clinical subtype],Severe phosphoribosylpyrophosphate synthetase superactivity,"[Severe PRPP synthetase superactivity, Severe PRPS1 superactivity]","A severe form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by early onset hyperuricemia and hyperuricosuria, and clinically manifesting with urolithiasis, gout and neurodevelopmental anomalies consisting of variable combinations of sensorineural hearing loss, hypotonia, and ataxia.",[300661],,,,,,,, +GARD:17683,Active,Orphanet,ORPHA:411590,Disorder,[Disease],Wolfram-like syndrome,,"Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.",[614296],,,,,,,, +GARD:17684,Active,Orphanet,ORPHA:411602,Disorder,[Disease],Hereditary late-onset Parkinson disease,"[Autosomal dominant late-onset Parkinson disease, LOPD]","Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).","[614203, 605543, 607060, 607688, 614251, 616361, 168601]",,,,,,,, +GARD:17685,Active,Orphanet,ORPHA:411634,Subtype of disorder,[Clinical subtype],Juvenile nephropathic cystinosis,"[Intermediate cystinosis, Juvenile cystinosis]","A subtype of cystinosis characterized by an accumulation of cystine in different organs and tissues, particularly in the kidneys and eyes, and that clinically manifests between childhood and adolescence with a slowly progressive proximal tubulopathy and/or proteinuria, and photophobia. Extra-renal manifestations (e.g. hypothyroidism, insulin-dependent diabetes, hepatosplenomegaly, muscular and cerebral involvement) are less severe than in the infantile form of the disease.",[219900],,,,,,,, +GARD:17686,Active,Orphanet,ORPHA:411712,Disorder,[Disease],Maternal riboflavin deficiency,,"Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances.",[615026],,,,,,,, +GARD:17687,Active,Orphanet,ORPHA:411986,Disorder,[Malformation syndrome],Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,[Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome],"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.",[615859],,,,,,,, +GARD:17688,Active,Orphanet,ORPHA:412022,Disorder,[Malformation syndrome],Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,"[FDLAB syndrome, Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome, Traboulsi syndrome]","Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.",[601552],,,,,,,, +GARD:17689,Active,Orphanet,ORPHA:412057,Disorder,[Disease],Autosomal recessive cerebellar ataxia due to STUB1 deficiency,"[SCAR16, Spinocerebellar ataxia autosomal recessive type 16]","A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.",[615768],,,,,,,, +GARD:17690,Active,Orphanet,ORPHA:412181,Disorder,[Disease],Epidermolysis bullosa simplex due to BP230 deficiency,"[DST-related epidermolysis bullosa simplex, EBS due to BP230 deficiency]","A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.",[615425],,,,,,,, +GARD:17691,Active,Orphanet,ORPHA:412189,Disorder,[Disease],Epidermolysis bullosa simplex due to exophilin 5 deficiency,[EBS due to exophilin 5 deficiency],"A rare, inherited, epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.",[615028],,,,,,,, +GARD:17692,Active,Orphanet,ORPHA:412206,Disorder,[Disease],Primary failure of tooth eruption,"[PFE, Primary retention of teeth]","A rare genetic odontologic disease characterized by failure of eruption of non-ankylosed permanent teeth without evidence of obvious mechanical obstruction. Posterior teeth are preferentially affected (typically with involvement of all teeth distal to the most mesial non-erupted tooth), resulting in a posterior open bite. Non-ankylosed teeth tend to become ankylosed, and orthodontic treatment of affected teeth is generally unsuccessful.",[125350],,,,,,,, +GARD:17693,Active,Orphanet,ORPHA:420485,Disorder,[Disease],Cranio-cervical dystonia with laryngeal and upper-limb involvement,"[DYT24, Dystonia 24]","Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.",[615034],,,,,,,, +GARD:17694,Active,Orphanet,ORPHA:420492,Disorder,[Disease],"Adult-onset cervical dystonia, DYT23 type","[DYT23, Dystonia 23]","A rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.",[614860],,,,,,,, +GARD:17695,Active,Orphanet,ORPHA:420566,Disorder,[Disease],Bleeding disorder due to CalDAG-GEFI deficiency,[Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency],"Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.",[615888],,,,,,,, +GARD:17696,Active,Orphanet,ORPHA:420573,Disorder,[Disease],Severe combined immunodeficiency due to CTPS1 deficiency,[SCID due to CTPS1 deficiency],"A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.",[615897],,,,,,,, +GARD:17697,Active,Orphanet,ORPHA:420686,Disorder,[Disease],Woolly hair-palmoplantar keratoderma syndrome,"[KWWH type IV, Keratoderma with woolly hair type IV, Woolly hair-palmoplantar hyperkeratosis syndrome]","Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.",[616099],,,,,,,, +GARD:17698,Active,Orphanet,ORPHA:420702,Disorder,[Disease],Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,,"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.",[617014],,,,,,,, +GARD:17699,Active,Orphanet,ORPHA:420728,Disorder,[Disease],Combined oxidative phosphorylation defect type 20,[COXPD20],"Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).",[615917],,,,,,,, +GARD:177,Active,Orphanet,ORPHA:2432,Disorder,[Malformation syndrome],Macrosomia-microphthalmia-cleft palate syndrome,[Teebi-Al Saleh-Hassoon syndrome],"Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.",[248110],,,,,Macrosomia with lethal microphthalmia,TRUE,FALSE,Active +GARD:17700,Active,Orphanet,ORPHA:420733,Disorder,[Disease],Combined oxidative phosphorylation defect type 21,[COXPD21],"Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.",[615918],,,,,,,, +GARD:17701,Active,Orphanet,ORPHA:420741,Disorder,[Malformation syndrome],RIDDLE syndrome,"[RNF168 deficiency, Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome]","A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).",[611943],,,,,,,, +GARD:17702,Active,Orphanet,ORPHA:423384,Disorder,[Disease],Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency,,"Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated.",[616022],,,,,,,, +GARD:17703,Active,Orphanet,ORPHA:423454,Disorder,[Disease],Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,"[Ectodermal dysplasia-short stature syndrome, Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome]","Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.",[616029],,,,,,,, +GARD:17704,Active,Orphanet,ORPHA:423461,Subtype of disorder,[Clinical subtype],Mucolipidosis type III alpha/beta,"[ML 3 alpha/beta, ML III alpha/beta, Mucolipidosis type 3 alpha/beta]","Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.",[252600],,,,,,,, +GARD:17705,Active,Orphanet,ORPHA:423470,Subtype of disorder,[Clinical subtype],Mucolipidosis type III gamma,"[ML 3 gamma, ML III gamma, Mucolipidosis type 3 gamma]","Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.",[252605],,,,,,,, +GARD:17706,Active,Orphanet,ORPHA:424027,Disorder,[Disease],Progressive myoclonic epilepsy type 8,"[EPM8, PME type 8, Progressive myoclonic epilepsy due to CERS1 deficiency, Progressive myoclonus epilepsy type 8]","A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.",[616230],,,,,,,, +GARD:17707,Active,Orphanet,ORPHA:424099,Disorder,[Malformation syndrome],Colobomatous microphthalmia-rhizomelic dysplasia syndrome,[Microphthalmia-coloboma-rhizomelic skeletal dysplasia],"Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.",[615877],,,,,,,, +GARD:17708,Active,Orphanet,ORPHA:424261,Disorder,[Disease],TOR1AIP1-related limb-girdle muscular dystrophy,"[Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive muscular dystrophy due to LAP1B deficiency, Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency, LGMD type 2Y, LGMD2Y, Muscular dystrophy with progressive weakness, distal contractures and rigid spine, TOR1AIP1-related LGMD]","A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.",[617072],,,,,,,, +GARD:17709,Active,Orphanet,ORPHA:431140,Disorder,[Malformation syndrome],X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,[X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome],"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.",[300915],,,,,,,, +GARD:17710,Active,Orphanet,ORPHA:431149,Disorder,[Disease],Combined immunodeficiency due to OX40 deficiency,"[Combined immunodeficiency with childhood-onset Kaposi sarcoma, Combined immunodeficiency with impaired immunity to HHV-8, Combined immunodeficiency with impaired immunity to human herpes virus 8]","Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.",[615593],,,,,,,, +GARD:17711,Active,Orphanet,ORPHA:431166,Disorder,[Disease],Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,[Primary immunodeficiency with post-MMR vaccine viral infection],"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.","[616636, 616669]",,,,,,,, +GARD:17712,Active,Orphanet,ORPHA:431329,Disorder,[Disease],Autosomal recessive spastic paraplegia type 57,"[SPG57, Spastic paraplegia due to partial TFG deficiency]","Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.",[615658],,,,,,,, +GARD:17713,Active,Orphanet,ORPHA:435329,Disorder,[Disease],Familial ossifying fibroma,[Multiple ossifying fibroma],"A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion.",[137575],,,,,,,, +GARD:17714,Active,Orphanet,ORPHA:435387,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2Y,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation, CMT2 due to VCP mutation, CMT2Y]","A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported.",[616687],,,,,,,, +GARD:17715,Active,Orphanet,ORPHA:435438,Disorder,[Disease],Progressive myoclonic epilepsy type 7,"[EPM7, MEAK, Myoclonus epilepsy and ataxia due to potassium channel mutation, PME type 7, Progressive myoclonic epilepsy due to KV3.1 deficiency, Progressive myoclonus epilepsy type 7]","A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.",[616187],,,,,,,, +GARD:17716,Active,Orphanet,ORPHA:435628,Disorder,[Malformation syndrome],Keppen-Lubinsky syndrome,[Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome],"A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal.",[614098],,,,,,,, +GARD:17717,Active,Orphanet,ORPHA:435804,Disorder,[Disease],Short stature-advanced bone age-early-onset osteoarthritis syndrome,,"A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.",[165800],,,,,,,, +GARD:17718,Active,Orphanet,ORPHA:435845,Disorder,[Malformation syndrome],Lethal neonatal spasticity-epileptic encephalopathy syndrome,[Lethal neonatal rigidity-multifocal seizure syndrome],"A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood.","[614498, 618056]",,,,,,,, +GARD:17719,Active,Orphanet,ORPHA:435930,Disorder,[Disease],Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,,"A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.",[212550],,,,,,,, +GARD:17720,Active,Orphanet,ORPHA:435934,Disorder,[Disease],COG2-CDG,[COG2-related congenital disorder of glycosylation],"A rare, congenital disorder of glycosylation caused by mutations in the COG2 gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.",[617395],,,,,,,, +GARD:17721,Active,Orphanet,ORPHA:435938,Disorder,[Malformation syndrome],X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,,"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.",[300998],,,,,,,, +GARD:17722,Active,Orphanet,ORPHA:435953,Disorder,[Disease],Progeroid features-hepatocellular carcinoma predisposition syndrome,[Ruijs-Aalfs syndrome],"A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported.",[616200],,,,,,,, +GARD:17723,Active,Orphanet,ORPHA:435998,Disorder,[Disease],Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,[RI-CMT type D],"Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.",[616039],,,,,,,, +GARD:17724,Active,Orphanet,ORPHA:436151,Disorder,[Disease],Intellectual disability-expressive aphasia-facial dysmorphism syndrome,[Intellectual disability-loss of expressive language-facial dysmorphism syndrome],"A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures.","[616078, 616083]",,,,,,,, +GARD:17725,Active,Orphanet,ORPHA:436166,Disorder,[Disease],Periodic fever-infantile enterocolitis-autoinflammatory syndrome,"[NLRC4-related MAS, NLRC4-related autoinflammatory syndrome with MAS, NLRC4-related autoinflammatory syndrome with macrophage activation syndrome, NLRC4-related infantile enterocolitis-autoinflammatory syndrome, NLRC4-related macrophage activation syndrome]","A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.",[616050],,,,,,,, +GARD:17726,Active,Orphanet,ORPHA:436169,Disorder,[Disease],Thrombomodulin-related bleeding disorder,"[THBD-related bleeding disorder, THBD-related coagulopathy, Thrombomodulin-related coagulopathy]","A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation.",[614486],,,,,,,, +GARD:17727,Active,Orphanet,ORPHA:436174,Disorder,[Disease],Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,[CAGSSS],"A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.",[616007],,,,,,,, +GARD:17728,Active,Orphanet,ORPHA:436182,Disorder,[Malformation syndrome],Microcephalic primordial dwarfism-insulin resistance syndrome,,"A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.","[616541, 617253]",,,,,,,, +GARD:17729,Active,Orphanet,ORPHA:436242,Disorder,[Disease],Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,,"A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.",[616117],,,,,,,, +GARD:17730,Active,Orphanet,ORPHA:436245,Disorder,[Disease],Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,[Retinal dystrophy-juvenile cataract-short stature syndrome],"A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).",[616108],,,,,,,, +GARD:17731,Active,Orphanet,ORPHA:436252,Disorder,[Disease],Combined immunodeficiency-enteropathy spectrum,[CID-MIA/early-onset IBD],"A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.",[243150],,,,,,,, +GARD:17732,Active,Orphanet,ORPHA:437552,Disorder,[Disease],Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,"[Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity, CD16 deficiency]","A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.",[615707],,,,,,,, +GARD:17733,Active,Orphanet,ORPHA:438075,Disorder,[Disease],Ketoacidosis due to monocarboxylate transporter-1 deficiency,,"A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.",[616095],,,,,,,, +GARD:17734,Active,Orphanet,ORPHA:438114,Disorder,[Disease],RARS-related autosomal recessive hypomyelinating leukodystrophy,,"A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.",[616140],,,,,,,, +GARD:17735,Active,Orphanet,ORPHA:438117,Disorder,[Disease],Steel syndrome,[Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome],"A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.",[615155],,,,,,,, +GARD:17736,Active,Orphanet,ORPHA:438134,Disorder,[Disease],PCNA-related progressive neurodegenerative photosensitivity syndrome,,"PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.",[615919],,,,,,,, +GARD:17737,Active,Orphanet,ORPHA:438159,Disorder,[Disease],STAT3-related early-onset multisystem autoimmune disease,,"A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells.",[615952],,,,,,,, +GARD:17738,Active,Orphanet,ORPHA:438207,Disorder,[Disease],Severe autosomal recessive macrothrombocytopenia,,"A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia.",[616176],,,,,,,, +GARD:17739,Active,Orphanet,ORPHA:438213,Disorder,[Disease],PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome,,"A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.",[616158],,,,,,,, +GARD:17740,Active,Orphanet,ORPHA:438216,Subtype of disorder,[Etiological subtype],PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,,,[616158],,,,,,,, +GARD:17741,Active,Orphanet,ORPHA:439254,Disorder,[Disease],ITM2B amyloidosis,"[Familial cerebral amyloid angiopathy, ITM2B-related amyloidosis, ITM2B-related cerebral amyloid angiopathy]","A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.","[117300, 176500]",,,,,,,, +GARD:17742,Active,Orphanet,ORPHA:439822,Disorder,[Malformation syndrome],PDE4D haploinsufficiency syndrome,,"PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.",[615668],,,,,,,, +GARD:17743,Active,Orphanet,ORPHA:439897,Disorder,[Malformation syndrome],Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,,"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.",[616258],,,,,,,, +GARD:17744,Active,Orphanet,ORPHA:440392,Disorder,[Disease],Interstitial lung disease due to SP-C deficiency,[Interstitial lung disease due to surfactant protein C deficiency],"A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.",[610913],,,,,,,, +GARD:17745,Active,Orphanet,ORPHA:440402,Disorder,[Disease],Interstitial lung disease due to ABCA3 deficiency,[Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency],"Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.",[610921],,,,,,,, +GARD:17746,Active,Orphanet,ORPHA:440427,Disorder,[Disease],Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,"[Hereditary pulmonary alveolar proteinosis with hepatic involvement, Interstitial lung and liver disease, PAP, Reunion island type, Pulmonary alveolar proteinosis, Reunion island type]","A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis.",[615486],,,,,,,, +GARD:17747,Active,Orphanet,ORPHA:440706,Disorder,[Disease],Ribose-5-P isomerase deficiency,,"Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.",[608611],,,,,,,, +GARD:17748,Active,Orphanet,ORPHA:440731,Disorder,[Biological anomaly],L-ferritin deficiency,,"A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported.",[615604],,,,,,,, +GARD:17749,Active,Orphanet,ORPHA:443057,Subtype of disorder,[Clinical subtype],Sporadic porphyria cutanea tarda,[Porphyria cutanea tarda type I],,[176090],,,,,,,, +GARD:17750,Active,Orphanet,ORPHA:443062,Subtype of disorder,[Clinical subtype],Familial porphyria cutanea tarda,[Porphyria cutanea tarda type II],,[176100],,,,,,,, +GARD:17751,Active,Orphanet,ORPHA:443073,Disorder,[Disease],Charcot-Marie-Tooth disease type 2S,[CMT2S],"A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.",[616155],,,,,,,, +GARD:17752,Active,Orphanet,ORPHA:443087,Disorder,[Disease],"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",,,[614279],,,,,,,, +GARD:17753,Active,Orphanet,ORPHA:443098,Disorder,[Disease],Hyperostosis cranialis interna,,"A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases.",[144755],,,,,,,, +GARD:17754,Active,Orphanet,ORPHA:443192,Subtype of disorder,[Clinical subtype],Classic stiff person syndrome,[Classic SPS],,[184850],,,,,,,, +GARD:17755,Active,Orphanet,ORPHA:443197,Disorder,[Disease],X-linked erythropoietic protoporphyria,"[X-linked dominant erythropoietic protoporphyria, X-linked dominant protoporphyria, XLDPP, XLPP]","A rare disorder of porphyrin and heme metabolism characterized by infantile or childhood onset of severe cutaneous photosensitivity in affected males, presenting as tingling, burning, and itching within minutes of light exposure, often accompanied by swelling and redness of the skin. Pain may persist for hours or days after the initial reaction. Some patients show hepatic involvement and gallstone formation. Laboratory examination reveals increased levels of zinc- and metal-free protoporphyrin. The phenotype in heterozygous females ranges from asymptomatic to severe.",[300752],,,,,,,, +GARD:17756,Active,Orphanet,ORPHA:443804,Subtype of disorder,[Clinical subtype],Focal stiff limb syndrome,"[Focal stiff-person syndrome, Stiff leg syndrome]",,[184850],,,,,,,, +GARD:17757,Active,Orphanet,ORPHA:443988,Disorder,[Disease],Ventriculomegaly-cystic kidney disease,"[Congenital nephrosis-cerebral ventriculomegaly syndrome, VMCKD]","A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.",[219730],,,,,,,, +GARD:17758,Active,Orphanet,ORPHA:443995,Disorder,[Malformation syndrome],Mandibulofacial dysostosis with alopecia,[MFDA],"A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss.",[616367],,,,,,,, +GARD:17759,Active,Orphanet,ORPHA:444013,Disorder,[Disease],Combined oxidative phosphorylation defect type 23,[COXPD23],"A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.",[616198],,,,,,,, +GARD:17760,Active,Orphanet,ORPHA:444048,Disorder,[Disease],"46,XX ovarian dysgenesis-short stature syndrome",,"A rare, genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.",[616185],,,,,,,, +GARD:17761,Active,Orphanet,ORPHA:444072,Disorder,[Malformation syndrome],Cerebellar-facial-dental syndrome,[Cerebellofaciodental syndrome],"A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.",[616202],,,,,,,, +GARD:17762,Active,Orphanet,ORPHA:444092,Disorder,[Disease],Autoimmune interstitial lung disease-arthritis syndrome,[COPA syndrome],"A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.",[616414],,,,,,,, +GARD:17763,Active,Orphanet,ORPHA:444099,Disorder,[Disease],Autosomal dominant spastic paraplegia type 73,[SPG73],"A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.",[616282],,,,,,,, +GARD:17764,Active,Orphanet,ORPHA:444138,Disorder,[Disease],Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,[PLACK syndrome],"A rare genetic skin disease characterized by generalized skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas shows hyperkeratosis, acanthosis, and intraepidermal clefting with irregular acantholysis. Additional systemic abnormalities are absent.",[616295],,,,,,,, +GARD:17765,Active,Orphanet,ORPHA:444458,Disorder,[Disease],Combined oxidative phosphorylation defect type 24,[COXPD24],"Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.",[616239],,,,,,,, +GARD:17766,Active,Orphanet,ORPHA:444463,Disorder,[Disease],Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome,"[Evans syndrome associated with primary immunodeficiency, TPPII deficiency, TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease, TRIANGLE disease, Tripeptidyl-peptidase II deficiency]","A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia.",[619220],,,,,,,, +GARD:17767,Active,Orphanet,ORPHA:445038,Disorder,[Disease],3-methylglutaconic aciduria type 7,"[3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome, MGA7]","A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia.",[616271],,,,,,,, +GARD:17768,Active,Orphanet,ORPHA:445062,Disorder,[Disease],Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,"[Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome, Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome]","A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy.",[616192],,,,,,,, +GARD:17769,Active,Orphanet,ORPHA:445110,Disorder,[Disease],Limb-girdle muscular dystrophy due to POMK deficiency,[LGMD due to POMK deficiency],"Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.",[616094],,,,,,,, +GARD:17770,Active,Orphanet,ORPHA:447760,Disorder,[Disease],Autosomal recessive spastic paraplegia type 9B,[AR-SPG9B],"A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence.",[616586],,,,,,,, +GARD:17771,Active,Orphanet,ORPHA:447784,Disorder,[Disease],Mitochondrial pyruvate carrier deficiency,,"A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip).",[614741],,,,,,,, +GARD:17772,Active,Orphanet,ORPHA:447877,Subtype of disorder,[Clinical subtype],Polymerase proofreading-related adenomatous polyposis,[PPAP],,"[612591, 615083]",,,,,,,, +GARD:17773,Active,Orphanet,ORPHA:447893,Subtype of disorder,[Clinical subtype],Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,,,[607694],,,,,,,, +GARD:17774,Active,Orphanet,ORPHA:447896,Subtype of disorder,[Clinical subtype],Tremor-ataxia-central hypomyelination syndrome,[TACH syndrome],,[607694],,,,,,,, +GARD:17775,Active,Orphanet,ORPHA:447954,Disorder,[Disease],Combined oxidative phosphorylation defect type 25,[COXPD25],"Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.",[616430],,,,,,,, +GARD:17776,Active,Orphanet,ORPHA:447961,Disorder,[Disease],Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,,"A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described.",[618373],,,,,,,, +GARD:17777,Active,Orphanet,ORPHA:447964,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2V,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation, CMT2V, Hereditary adult-onset painful axonal polyneuropathy]","A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.",[616491],,,,,,,, +GARD:17778,Active,Orphanet,ORPHA:447974,Disorder,[Malformation syndrome],Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,,"A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported.",[616549],,,,,,,, +GARD:17779,Active,Orphanet,ORPHA:447977,Disorder,[Disease],Progressive scapulohumeroperoneal distal myopathy,,"A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.",[616852],,,,,,,, +GARD:17780,Active,Orphanet,ORPHA:448251,Disorder,[Disease],Progressive autosomal recessive ataxia-deafness syndrome,"[Lichtenstein-Knorr syndrome, Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome, SCAR19]","A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.",[616291],,,,,,,, +GARD:17781,Active,Orphanet,ORPHA:448264,Disorder,[Disease],Isolated focal non-epidermolytic palmoplantar keratoderma,,"A rare hereditary palmoplantar keratoderma characterized by focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells in the suprabasal layers, elongation of rete ridges, and sparse lymphocyte infiltration in the dermis.","[616400, 613000]",,,,,,,, +GARD:17782,Active,Orphanet,ORPHA:448267,Disorder,[Malformation syndrome],Regressive spondylometaphyseal dysplasia,,"Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.",[618019],,,,,,,, +GARD:17783,Active,Orphanet,ORPHA:449291,Disorder,[Disease],Symptomatic form of fragile X syndrome in female carriers,,"A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism).",[300624],,,,,,,, +GARD:17784,Active,Orphanet,ORPHA:451612,Disorder,[Morphological anomaly],Familial congenital nasolacrimal duct obstruction,,"A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal draingage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.",[149700],,,,,,,, +GARD:17785,Active,Orphanet,ORPHA:453499,Disorder,[Malformation syndrome],Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome,[Au-Kline syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove, and downturned mouth), congenital heart defects, and variable skeletal abnormalities including hip dysplasia, vertebral anomalies, and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities.",[616580],,,,,,,, +GARD:17786,Active,Orphanet,ORPHA:453521,Disorder,[Disease],Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,"[SCAR17, Spinocerebellar ataxia autosomal recessive type 17]","A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.",[616127],,,,,,,, +GARD:17787,Active,Orphanet,ORPHA:453533,Disorder,[Disease],Polyendocrine-polyneuropathy syndrome,,"A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.",[616113],,,,,,,, +GARD:17788,Active,Orphanet,ORPHA:454700,Group of disorders,[Clinical group],Acquired Creutzfeldt-Jakob disease,,"A group of human prion diseases characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of prions. The group comprises iatrogenic Creutzfeldt-Jakob disease (CJD), which results from transmission of CJD prions in the course of medical procedures or treatments, and variant CJD (transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual).",[123400],,,,,,,, +GARD:17789,Active,Orphanet,ORPHA:454821,Subtype of disorder,[Histopathological subtype],Pleomorphic salivary gland adenoma,,"A rare tumor of salivary glands characterized by a benign, well-circumscribed, slow-growing, painless mass most commonly occurring in the parotid gland (but also the palate, submandibular gland, or nasal septal mucosa), histopathologically composed of epithelial and myoepithelial / stromal components. Possible signs and symptoms depend on the location of the tumor and include facial nerve weakness, mild dysphagia, or unilateral nasal obstruction. Recurrence rates are low, although tumor rupture and spillage have been reported. Malignant transformation may occur in a small percentage of cases.",[181030],,,,,,,, +GARD:17790,Active,Orphanet,ORPHA:454840,Subtype of disorder,[Clinical subtype],NTHL1-related attenuated familial adenomatous polyposis,"[NTHL1-related AFAP, NTHL1-related attenuated FAP]",,[616415],,,,,,,, +GARD:17791,Active,Orphanet,ORPHA:456312,Disorder,[Disease],Infantile multisystem neurologic-endocrine-pancreatic disease,[IMNEPD],"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.",[616263],,,,,,,, +GARD:17792,Active,Orphanet,ORPHA:456328,Disorder,[Disease],X-linked myotubular myopathy-abnormal genitalia syndrome,[Xq28 contiguous gene deletion syndrome],"X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.",[300219],,,,,,,, +GARD:17793,Active,Orphanet,ORPHA:456369,Disorder,[Disease],Polyglucosan body myopathy type 2,,A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.,[616199],,,,,,,, +GARD:17794,Active,Orphanet,ORPHA:457050,Disorder,[Disease],Autosomal dominant mitochondrial myopathy with exercise intolerance,,"A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder, and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.",[616209],,,,,,,, +GARD:17795,Active,Orphanet,ORPHA:457088,Disorder,[Disease],Predisposition to invasive fungal disease due to CARD9 deficiency,[Invasive candidiasis-deep dermatophytosis syndrome],"A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.",[212050],,,,,,,, +GARD:17796,Active,Orphanet,ORPHA:457185,Disorder,[Disease],Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,[COQ4-related neonatal encephalomyopathy],"A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.",[616276],,,,,,,, +GARD:17797,Active,Orphanet,ORPHA:457193,Disorder,[Malformation syndrome],Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome,,"A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.",[616268],,,,,,,, +GARD:17798,Active,Orphanet,ORPHA:457212,Disorder,[Disease],Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,,"A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin.",[616269],,,,,,,, +GARD:17799,Active,Orphanet,ORPHA:457223,Disorder,[Disease],Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,"[Syndromic sensorineural deafness due to COXPD, Syndromic sensorineural hearing loss due to COXPD]","A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.",[617872],,,,,,,, +GARD:178,Active,Orphanet,ORPHA:2563,Disorder,[Malformation syndrome],MOMO syndrome,"[Macrocephaly-obesity-mental disability-ocular abnormalities syndrome, Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome]","MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.",[157980],,,,,MOMO syndrome,TRUE,FALSE,Active +GARD:17800,Active,Orphanet,ORPHA:457240,Disorder,[Malformation syndrome],X-linked intellectual disability-short stature-overweight syndrome,,"X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.",[300957],,,,,,,, +GARD:17801,Active,Orphanet,ORPHA:457265,Disorder,[Disease],Progressive myoclonic epilepsy type 9,"[EPM9, PME type 9, Progressive myoclonic epilepsy due to LMNB2 deficiency, Progressive myoclonus epilepsy type 9]","A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally).",[616540],,,,,,,, +GARD:17802,Active,Orphanet,ORPHA:457279,Disorder,[Malformation syndrome],Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,,"A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.",[616355],,,,,,,, +GARD:17803,Active,Orphanet,ORPHA:457284,Disorder,[Malformation syndrome],Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others.",[616362],,,,,,,, +GARD:17804,Active,Orphanet,ORPHA:457351,Disorder,[Malformation syndrome],Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,[Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome],"A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination.",[616577],,,,,,,, +GARD:17805,Active,Orphanet,ORPHA:457359,Disorder,[Malformation syndrome],Megalencephaly-severe kyphoscoliosis-overgrowth syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum.",[617011],,,,,,,, +GARD:17806,Active,Orphanet,ORPHA:457375,Disorder,[Disease],ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,[Martsolf-like syndrome],"A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal.",[616647],,,,,,,, +GARD:17807,Active,Orphanet,ORPHA:457378,Disorder,[Malformation syndrome],Complex lethal osteochondrodysplasia,"[Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type]","A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated.",[616897],,,,,,,, +GARD:17808,Active,Orphanet,ORPHA:457395,Disorder,[Malformation syndrome],Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described.",[616723],,,,,,,, +GARD:17809,Active,Orphanet,ORPHA:457406,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 4,[MMDS4],"A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.",[616370],,,,,,,, +GARD:17810,Active,Orphanet,ORPHA:458798,Disorder,[Disease],Spinocerebellar ataxia type 41,[SCA41],Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.,[616410],,,,,,,, +GARD:17811,Active,Orphanet,ORPHA:458803,Disorder,[Disease],Spinocerebellar ataxia type 42,[SCA42],"Spinocerebellar ataxia type 42 is a rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.",[616795],,,,,,,, +GARD:17812,Active,Orphanet,ORPHA:459051,Disorder,[Disease],"Spondyloepiphyseal dysplasia, Stanescu type","[SED, Stanescu type]","A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.",[616583],,,,,,,, +GARD:17813,Active,Orphanet,ORPHA:459056,Disorder,[Disease],Autosomal recessive spastic paraplegia type 75,[SPG75],"Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.",[616680],,,,,,,, +GARD:17814,Active,Orphanet,ORPHA:459061,Disorder,[Malformation syndrome],Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,"[Developmental delay-short stature-dysmorphic features-sparse hair syndrome, Loucks-Innes syndrome]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypolastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.",[616901],,,,,,,, +GARD:17815,Active,Orphanet,ORPHA:459070,Disorder,[Malformation syndrome],X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia.",[300998],,,,,,,, +GARD:17816,Active,Orphanet,ORPHA:464282,Disorder,[Disease],Spastic paraplegia-severe developmental delay-epilepsy syndrome,"[SPPRS syndrome, Spastic paraplegia-psychomotor retardation-seizures syndrome]","Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.",[616756],,,,,,,, +GARD:17817,Active,Orphanet,ORPHA:464288,Disorder,[Malformation syndrome],Short stature-brachydactyly-obesity-global developmental delay syndrome,[SBIDDS],"A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.",[617157],,,,,,,, +GARD:17818,Active,Orphanet,ORPHA:464366,Disorder,[Malformation syndrome],NEK9-related lethal skeletal dysplasia,[Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome],"NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.",[617022],,,,,,,, +GARD:17819,Active,Orphanet,ORPHA:464440,Disorder,[Disease],"Primary dystonia, DYT27 type",,"A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.",[616411],,,,,,,, +GARD:17820,Active,Orphanet,ORPHA:464724,Disorder,[Disease],Fever-associated acute infantile liver failure syndrome,,"A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.","[618641, 616483]",,,,,,,, +GARD:17821,Active,Orphanet,ORPHA:464738,Disorder,[Malformation syndrome],Basel-Vanagaite-Smirin-Yosef syndrome,,"A rare, genetic intellectual disability syndrome characterized by severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract, and nevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum, among others.",[616449],,,,,,,, +GARD:17822,Active,Orphanet,ORPHA:464760,Disorder,[Morphological anomaly],Familial cavitary optic disc anomaly,[Familial CODA],"A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss.",[611543],,,,,,,, +GARD:17823,Active,Orphanet,ORPHA:465824,Disorder,[Malformation syndrome],Fetal encasement syndrome,,"Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.",[613630],,,,,,,, +GARD:17824,Active,Orphanet,ORPHA:466688,Disorder,[Malformation syndrome],Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,,"A rare genetic neurological disorder characterized by congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia, and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing, arched, thick, and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares, and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia.",[616819],,,,,,,, +GARD:17825,Active,Orphanet,ORPHA:466703,Disorder,[Disease],TMEM199-CDG,"[CDG syndrome type IIp, CDG-IIp, CDG2P, Carbohydrate deficient glycoprotein syndrome type IIp, Congenital disorder of glycosylation type 2p, Congenital disorder of glycosylation type IIp]","A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.",[616829],,,,,,,, +GARD:17826,Active,Orphanet,ORPHA:466718,Disorder,[Disease],Martinique crinkled retinal pigment epitheliopathy,[MCRPE],"A rare, genetic retinal disease characterized by characteristic ""dried-out soil"" fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.",[617111],,,,,,,, +GARD:17827,Active,Orphanet,ORPHA:466722,Disorder,[Disease],Autosomal recessive spastic paraplegia type 77,[SPG77],"Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.",[617046],,,,,,,, +GARD:17828,Active,Orphanet,ORPHA:466729,Disorder,[Morphological anomaly],Familial patent arterial duct,,"Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.","[607411, 617035, 617039]",,,,,,,, +GARD:17829,Active,Orphanet,ORPHA:466768,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2Z,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation, CMT2Z]","A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps, and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to involve also the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes, as well as learning difficulties.",[616688],,,,,,,, +GARD:17830,Active,Orphanet,ORPHA:466775,Disorder,[Disease],Autosomal recessive Charcot-Marie-Tooth disease type 2X,"[ARCMT2X, Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation, CMT2X]","A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.",[616668],,,,,,,, +GARD:17831,Active,Orphanet,ORPHA:466784,Disorder,[Disease],Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,"[COXPD28, Combined oxidative phosphorylation defect type 28]","A rare mitochondrial disease characterized by a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia, and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis, and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV.",[616794],,,,,,,, +GARD:17832,Active,Orphanet,ORPHA:466791,Disorder,[Malformation syndrome],Macrocephaly-intellectual disability-left ventricular non compaction syndrome,,"Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.",[300967],,,,,,,, +GARD:17833,Active,Orphanet,ORPHA:466794,Disorder,[Disease],Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,"[Autosomal recessive spinocerebellar ataxia type 21, SCAR21]","A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.",[616719],,,,,,,, +GARD:17834,Active,Orphanet,ORPHA:466801,Disorder,[Disease],LIMS2-related limb-girdle muscular dystrophy,"[Autosomal recessive limb-girdle muscular dystrophy type 2W, LGMD type 2W, LGMD2W, LIMS2-related LGM, Limb-girdle muscular dystrophy type 2W]","A subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.",[616827],,,,,,,, +GARD:17835,Active,Orphanet,ORPHA:466806,Disorder,[Disease],Autosomal dominant thrombocytopenia with platelet secretion defect,,"A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others.","[616913, 619130]",,,,,,,, +GARD:17836,Active,Orphanet,ORPHA:466926,Disorder,[Disease],Seizures-scoliosis-macrocephaly syndrome,[SSM syndrome],"Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.",[616682],,,,,,,, +GARD:17837,Active,Orphanet,ORPHA:466934,Disorder,[Disease],VPS11-related autosomal recessive hypomyelinating leukodystrophy,[VPS11-related autosomal recessive hypomyelinating leukoencephalopathy],"A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.",[616683],,,,,,,, +GARD:17838,Active,Orphanet,ORPHA:466943,Disorder,[Malformation syndrome],WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,,"A rare, genetic, syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present.",[616708],,,,,,,, +GARD:17839,Active,Orphanet,ORPHA:466950,Subtype of disorder,[Clinical subtype],Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,,,[616708],,,,,,,, +GARD:17840,Active,Orphanet,ORPHA:467176,Disorder,[Disease],Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,,"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.",[616816],,,,,,,, +GARD:17841,Active,Orphanet,ORPHA:468631,Disorder,[Malformation syndrome],Microcephalic cortical malformations-short stature due to RTTN deficiency,,"A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe intellectual disability, and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe.",[614833],,,,,,,, +GARD:17842,Active,Orphanet,ORPHA:468661,Disorder,[Disease],Autosomal recessive spastic paraplegia type 74,[SPG74],"Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.",[616451],,,,,,,, +GARD:17843,Active,Orphanet,ORPHA:468666,Disorder,[Disease],Isolated generalized anhidrosis with normal sweat glands,,"A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.",[106190],,,,,,,, +GARD:17844,Active,Orphanet,ORPHA:468672,Disorder,[Disease],Colobomatous macrophthalmia-microcornea syndrome,[MACOM syndrome],"A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features.",[602499],,,,,,,, +GARD:17845,Active,Orphanet,ORPHA:468684,Disorder,[Disease],CCDC115-CDG,"[CDG syndrome type IIo, CDG-IIo, CDG2O, Carbohydrate deficient glycoprotein syndrome type IIo, Congenital disorder of glycosylation type 2o, Congenital disorder of glycosylation type IIo]","A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia, and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia, and low serum ceruloplasmin.",[616828],,,,,,,, +GARD:17846,Active,Orphanet,ORPHA:468699,Disorder,[Disease],SLC39A8-CDG,"[CDG syndrome type IIn, CDG-IIn, CDG2N, Carbohydrate deficient glycoprotein syndrome type IIn, Congenital disorder of glycosylation type 2n, Congenital disorder of glycosylation type IIn, SLC39A8 deficiency]","A rare congenital disorder of glycosylation characterized by infantile onset of global developmental delay, severe intellectual disability, hypotonia, and variable additional features including short stature, cranial asymmetry, seizures, strabismus, recurrent infections, and osteopenia, among others. Laboratory analysis reveals decreased blood levels of zinc and manganese, as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialo- and increased asialo-, monosialo-, disialo, and trisialo-transferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy.",[616721],,,,,,,, +GARD:17847,Active,Orphanet,ORPHA:476084,Disorder,[Disease],BVES-related limb-girdle muscular dystrophy,"[Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome, BVES-related LGMD, LGMD type 2X, LGMD2X, Limb-girdle muscular dystrophy 2X]","A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.",[616812],,,,,,,, +GARD:17848,Active,Orphanet,ORPHA:476102,Disorder,[Disease],Hereditary pediatric Behçet-like disease,"[Behçet-like disease due to HA20, Behçet-like disease due to haploinsufficiency of A20]","A rare autosomal dominant autoinflammatory syndrome characterized by early onset systemic inflammation with autoimmune manifestations and more rarely, humoral immune deficiency and increased production of circulating proinflammatory cytokines, variably manifesting with recurrent oral aphthous ulcers, genital ulcers, arthralgia or arthritis, periodic fever, uveitis, and severe gastrointestinal involvement (pain, diarrhea, vomiting, rectal bleeding).",[616744],,,,,,,, +GARD:17849,Active,Orphanet,ORPHA:476113,Disorder,[Disease],Combined immunodeficiency due to TFRC deficiency,"[CID due to TFRC deficiency, TFRC-related combined immunodeficiency]","A rare genetic combined T and B cell immunodeficiency characterized by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhea, severe recurrent infections, and failure to thrive. Laboratory studies reveal hypo- or agammaglobulinemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anemia (resistant to iron supplementation) with low mean corpuscular volume.",[616740],,,,,,,, +GARD:17850,Active,Orphanet,ORPHA:476126,Disorder,[Malformation syndrome],Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features, and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies, among others.",[617061],,,,,,,, +GARD:17851,Active,Orphanet,ORPHA:476394,Disorder,[Disease],PMP2-related Charcot-Marie-Tooth disease type 1,"[PMP2-related CMT1, PMP2-related Charcot-Marie-Tooth neuropathy type 1, PMP2-related hereditary motor and sensory neuropathy type 1]","A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.",[618279],,,,,,,, +GARD:17852,Active,Orphanet,ORPHA:477661,Disorder,[Disease],IL21-related infantile inflammatory bowel disease,[IL21-related infantile IBD],"A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.",[615767],,,,,,,, +GARD:17853,Active,Orphanet,ORPHA:477673,Disorder,[Disease],Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,,"A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients.",[616281],,,,,,,, +GARD:17854,Active,Orphanet,ORPHA:477684,Disorder,[Disease],Combined oxidative phosphorylation defect type 26,[COXPD26],"A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnea, progressive muscle weakness, spasticity, and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia, and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures, and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated, and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes.",[616539],,,,,,,, +GARD:17855,Active,Orphanet,ORPHA:477749,Disorder,[Disease],Pontine autosomal dominant microangiopathy with leukoencephalopathy,[PADMAL],"A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.",[618564],,,,,,,, +GARD:17856,Active,Orphanet,ORPHA:477774,Disorder,[Disease],Combined oxidative phosphorylation defect type 27,[COXPD27],"A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities.",[616672],,,,,,,, +GARD:17857,Active,Orphanet,ORPHA:477787,Disorder,[Disease],Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,"[PLA2G4A-related platelet dysfunction, Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency]","A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcera. Mildly reduced levels of coagulation factor XI have been reported in addition.",[618372],,,,,,,, +GARD:17858,Active,Orphanet,ORPHA:477814,Disorder,[Malformation syndrome],Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,,"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.",[616632],,,,,,,, +GARD:17859,Active,Orphanet,ORPHA:477817,Disorder,[Malformation syndrome],PMP22-RAI1 contiguous gene duplication syndrome,"[17p11.2p12 microduplication syndrome, Dup(17)(p11.2p12), Trisomy 17p11.2-p12, Trisomy 17p11.2p12, Yuan-Harel-Lupski syndrome]","A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed.",[616652],,,,,,,, +GARD:17860,Active,Orphanet,ORPHA:477831,Disorder,[Malformation syndrome],Kosaki overgrowth syndrome,[Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies.",[616592],,,,,,,, +GARD:17861,Active,Orphanet,ORPHA:477857,Disorder,[Disease],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,"[Autosomal recessive MSMD due to complete RORgamma receptor defiency, Autosomal recessive primary immunodeficiency due to RORC mutation]","A rare primary immunodeficiency characterized by increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria, such as mycobacterium bovis. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells.",[616622],,,,,,,, +GARD:17862,Active,Orphanet,ORPHA:477993,Disorder,[Malformation syndrome],Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,[Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome],"Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.",[616728],,,,,,,, +GARD:17863,Active,Orphanet,ORPHA:478029,Disorder,[Disease],Combined oxidative phosphorylation defect type 29,[COXPD29],"A rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.",[616811],,,,,,,, +GARD:17864,Active,Orphanet,ORPHA:478042,Disorder,[Disease],Combined oxidative phosphorylation defect type 30,[COXPD30],"A rare mitochondrial oxidative phosphorylation disorder characterized by neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased, and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle.",[616974],,,,,,,, +GARD:17865,Active,Orphanet,ORPHA:478049,Disorder,[Disease],Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,,"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.",[617228],,,,,,,, +GARD:17866,Active,Orphanet,ORPHA:478664,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 8,"[HSAN8, Hereditary sensory and autonomic neuropathy type VIII]","A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.",[616488],,,,,,,, +GARD:17867,Active,Orphanet,ORPHA:480476,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 5,"[NR1H4 deficiency, PFIC5]",,[617049],,,,,,,, +GARD:17868,Active,Orphanet,ORPHA:480536,Subtype of disorder,[Clinical subtype],MSH3-related attenuated familial adenomatous polyposis,"[MSH3-related AFAP, MSH3-related attenuated FAP, MSH3-related attenuated familial polyposis coli]",,[617100],,,,,,,, +GARD:17869,Active,Orphanet,ORPHA:480682,Disorder,[Disease],POGLUT1-related limb-girdle muscular dystrophy R21,"[Autosomal recessive limb-girdle muscular dystrophy type 2Z, LGMD type 2Z, LGMD2Z, Limb-girdle muscular dystrophy type 2Z, POGLUT1-related LGMD R21]","A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.",[617232],,,,,,,, +GARD:17870,Active,Orphanet,ORPHA:480851,Disorder,[Disease],Hereditary thrombocytopenia with early-onset myelofibrosis,,"A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils.",[616937],,,,,,,, +GARD:17871,Active,Orphanet,ORPHA:480898,Disorder,[Disease],Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,,"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).",[616875],,,,,,,, +GARD:17872,Active,Orphanet,ORPHA:480907,Disorder,[Malformation syndrome],X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal, and cardiovascular anomalies have also been described.",[300966],,,,,,,, +GARD:17873,Active,Orphanet,ORPHA:481152,Disorder,[Malformation syndrome],PYCR2-related microcephaly-progressive leukoencephalopathy,,"PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.",[616420],,,,,,,, +GARD:17874,Active,Orphanet,ORPHA:481662,Disorder,[Disease],Familial Chilblain lupus,,"A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.","[614415, 610448]",,,,,,,, +GARD:17875,Active,Orphanet,ORPHA:481665,Disorder,[Disease],USP18 deficiency,,"A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.",[617397],,,,,,,, +GARD:17876,Active,Orphanet,ORPHA:481986,Subtype of disorder,[Etiological subtype],Familial schizencephaly,,,[269160],,,,,,,, +GARD:17877,Active,Orphanet,ORPHA:482077,Disorder,[Disease],HTRA1-related autosomal dominant cerebral small vessel disease,[HTRA1-related autosomal dominant cerebral angiopathy],"A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosus, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent.",[616779],,,,,,,, +GARD:17878,Active,Orphanet,ORPHA:482601,Disorder,[Disease],Adenylosuccinate synthetase-like 1-related distal myopathy,[ADSSL1-related distal myopathy],"A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.",[617030],,,,,,,, +GARD:17879,Active,Orphanet,ORPHA:485275,Subtype of disorder,[Etiological subtype],Acquired schizencephaly,,,[269160],,,,,,,, +GARD:17880,Active,Orphanet,ORPHA:485350,Disorder,[Disease],CLCN4-related X-linked intellectual disability syndrome,[Raynaud-Claes syndrome],"A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.",[300114],,,,,,,, +GARD:17881,Active,Orphanet,ORPHA:485421,Subtype of disorder,[Etiological subtype],MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,"[Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome, Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome]",,[617086],,,,,,,, +GARD:17882,Active,Orphanet,ORPHA:486811,Disorder,[Disease],Prenatal-onset spinal muscular atrophy with congenital bone fractures,[SMABF],"A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.","[616867, 616866]",,,,,,,, +GARD:17883,Active,Orphanet,ORPHA:486815,Disorder,[Disease],Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,"[Congenital muscular dystrophy, Davignon-Chauveau type]","A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure, and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers, and cap lesions.",[617066],,,,,,,, +GARD:17884,Active,Orphanet,ORPHA:487796,Disorder,[Malformation syndrome],Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome,[Takenouchi-Kosaki syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes.",[616737],,,,,,,, +GARD:17885,Active,Orphanet,ORPHA:487825,Disorder,[Malformation syndrome],Pierpont syndrome,"[Plantar lipomatosis-facial dysmorphism-developmental delay syndrome, Plantar lipomatosis-unusual facies-developmental delay syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly.",[602342],,,,,,,, +GARD:17886,Active,Orphanet,ORPHA:488168,Disorder,[Malformation syndrome],Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,"[SMO deficiency, Sterol-C4-methyl oxidase deficiency]","A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described.",[616834],,,,,,,, +GARD:17887,Active,Orphanet,ORPHA:488191,Disorder,[Disease],Female infertility due to oocyte meiotic arrest,,"A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles.","[619009, 617743, 619176, 619011, 616780]",,,,,,,, +GARD:17888,Active,Orphanet,ORPHA:488197,Disorder,[Disease],Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,,"A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.",[616722],,,,,,,, +GARD:17889,Active,Orphanet,ORPHA:488232,Disorder,[Malformation syndrome],Split-foot malformation-mesoaxial polydactyly syndrome,"[SFMMP, Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome]","A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.",[616890],,,,,,,, +GARD:17890,Active,Orphanet,ORPHA:488280,Disorder,[Disease],14q32 duplication syndrome,"[Dup(14)q(32), Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication, Trisomy 14q32]","14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.",[616604],,,,,,,, +GARD:17891,Active,Orphanet,ORPHA:488333,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2W,"[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation, CMT2W]","A rare predominantly axonal hereditary motor and sensory neuropathy characterized by a broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment, while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable, ranging from childhood to late adulthood.",[616625],,,,,,,, +GARD:17892,Active,Orphanet,ORPHA:488594,Disorder,[Disease],Autosomal recessive spastic paraplegia type 76,[SPG76],"Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.",[616907],,,,,,,, +GARD:17893,Active,Orphanet,ORPHA:488613,Disorder,[Malformation syndrome],Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,,"A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.",[616973],,,,,,,, +GARD:17894,Active,Orphanet,ORPHA:488618,Disorder,[Malformation syndrome],Transketolase deficiency,"[Short stature-developmental delay-congenital heart defect syndrome, TKT deficiency]","A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).",[617044],,,,,,,, +GARD:17895,Active,Orphanet,ORPHA:488627,Disorder,[Malformation syndrome],Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.",[617051],,,,,,,, +GARD:17896,Active,Orphanet,ORPHA:488632,Disorder,[Malformation syndrome],TBCK-related intellectual disability syndrome,,"TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.",[616900],,,,,,,, +GARD:17897,Active,Orphanet,ORPHA:488635,Disorder,[Disease],Early-onset epilepsy-intellectual disability-brain anomalies syndrome,"[Congenital disorder of glycosylation due to PIGG deficiency, PIGG-CDG]","A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum.",[616917],,,,,,,, +GARD:17898,Active,Orphanet,ORPHA:488642,Disorder,[Malformation syndrome],TELO2-related intellectual disability-neurodevelopmental disorder,[You-Hoover-Fong syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others.",[616954],,,,,,,, +GARD:17899,Active,Orphanet,ORPHA:488647,Disorder,[Disease],DDX41-related hematologic malignancy predisposition syndrome,,"A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies.",[616871],,,,,,,, +GARD:179,Legacy,GARD,,,,,,,,,,,,Macrothrombocytopenia progressive deafness,TRUE,FALSE,Active +GARD:17900,Active,Orphanet,ORPHA:488650,Disorder,[Disease],"Distal myopathy, Tateyama type",,"Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.",[614321],,,,,,,, +GARD:17901,Active,Orphanet,ORPHA:493348,Disorder,[Disease],Vibratory angioedema,,"Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.",[125630],,,,,,,, +GARD:17902,Active,Orphanet,ORPHA:494344,Disorder,[Malformation syndrome],RERE-related neurodevelopmental syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.",[616975],,,,,,,, +GARD:17903,Active,Orphanet,ORPHA:494439,Disorder,[Malformation syndrome],Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,[Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.",[617763],,,,,,,, +GARD:17904,Active,Orphanet,ORPHA:494444,Disorder,[Disease],DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,[DIAPH1-related sensorineural deafness-thrombocytopenia syndrome],"A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.",[124900],,,,,,,, +GARD:17905,Active,Orphanet,ORPHA:494526,Disorder,[Disease],Infantile-onset generalized dyskinesia with orofacial involvement,[Infantile-onset orofacial-trunk-limbs dyskinesia],"A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.",[616921],,,,,,,, +GARD:17906,Active,Orphanet,ORPHA:494541,Disorder,[Disease],Childhood-onset benign chorea with striatal involvement,,"A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported.",[616922],,,,,,,, +GARD:17907,Active,Orphanet,ORPHA:494547,Disorder,[Disease],Squamous cell carcinoma of the hypopharynx,,"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the piriform sinus, less frequently the posterior pharyngeal wall or the postcricoid area. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with odynophagia, dysphagia, signs and symptoms related to a neck mass, voice changes, otalgia, and constitutional symptoms.",[275355],,,,,,,, +GARD:17908,Active,Orphanet,ORPHA:494550,Disorder,[Disease],Squamous cell carcinoma of the larynx,,"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the supraglottis or glottis. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with hoarseness, dyspnea, stridor, dysphagia, hemoptysis, or odynophagia.",[275355],,,,,,,, +GARD:17909,Active,Orphanet,ORPHA:495274,Disorder,[Disease],Charcot-Marie-Tooth disease type 2T,"[AR-CMT2T, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T, CMT2T]","A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.",[617017],,,,,,,, +GARD:17910,Active,Orphanet,ORPHA:495844,Disorder,[Disease],C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,"[C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy, Hypomyelinating leukodystrophy due to hikeshi deficiency]","A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.",[616881],,,,,,,, +GARD:17911,Active,Orphanet,ORPHA:496641,Disorder,[Malformation syndrome],Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,,"A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies.",[617193],,,,,,,, +GARD:17912,Active,Orphanet,ORPHA:496686,Disorder,[Disease],Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,,"A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.",[617114],,,,,,,, +GARD:17913,Active,Orphanet,ORPHA:496751,Disorder,[Malformation syndrome],EVEN-plus syndrome,[Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed.",[616854],,,,,,,, +GARD:17914,Active,Orphanet,ORPHA:496756,Disorder,[Disease],Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,,"A rare genetic neurodegenerative disease characterized by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life.",[617207],,,,,,,, +GARD:17915,Active,Orphanet,ORPHA:496790,Disorder,[Disease],Ocular anomalies-axonal neuropathy-developmental delay syndrome,[Harel-Yoon syndrome],"A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.",[617183],,,,,,,, +GARD:17916,Active,Orphanet,ORPHA:497757,Disorder,[Disease],MME-related autosomal dominant Charcot Marie Tooth disease type 2,"[MME-related autosomal dominant CMT2, MME-related autosomal dominant hereditary motor and sensory neuropathy type 2]","A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.",[617017],,,,,,,, +GARD:17917,Active,Orphanet,ORPHA:497764,Disorder,[Disease],Spinocerebellar ataxia type 43,[SCA43],"Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.",[617017],,,,,,,, +GARD:17918,Active,Orphanet,ORPHA:497906,Disorder,[Disease],Childhood-onset basal ganglia degeneration syndrome,[Lenk-Ploski syndrome],"A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome.",[617054],,,,,,,, +GARD:17919,Active,Orphanet,ORPHA:498497,Disorder,[Malformation syndrome],Short rib-polydactyly syndrome type 5,,,[614091],,,,,,,, +GARD:17920,Active,Orphanet,ORPHA:500055,Disorder,[Malformation syndrome],16p13.2 microdeletion syndrome,"[Del(16)(p13.2), Monosomy 16p13.2]","A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.",[616863],,,,,,,, +GARD:17921,Active,Orphanet,ORPHA:500095,Disorder,[Malformation syndrome],Tall stature-intellectual disability-renal anomalies syndrome,[Thauvin-Robinet-Faivre syndrome],"A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism.",[617107],,,,,,,, +GARD:17922,Active,Orphanet,ORPHA:500135,Disorder,[Malformation syndrome],Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,[MARCH syndrome],"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells.",[236500],,,,,,,, +GARD:17923,Active,Orphanet,ORPHA:500144,Disorder,[Malformation syndrome],Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,,"A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus.",[617669],,,,,,,, +GARD:17924,Active,Orphanet,ORPHA:500159,Disorder,[Malformation syndrome],Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities.",[617751],,,,,,,, +GARD:17925,Active,Orphanet,ORPHA:500166,Subtype of disorder,[Etiological subtype],SIN3A-related intellectual disability syndrome due to a point mutation,,,[613406],,,,,,,, +GARD:17926,Active,Orphanet,ORPHA:500188,Disorder,[Malformation syndrome],X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,,"A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent.",[301018],,,,,,,, +GARD:17927,Active,Orphanet,ORPHA:500464,Disorder,[Disease],Squamous cell carcinoma of the nasal cavity and paranasal sinuses,[Squamous cell carcinoma of the nasal cavity and sinuses],"A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia, and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk HPV is most frequently associated with the non-keratinizing type.",[275355],,,,,,,, +GARD:17928,Active,Orphanet,ORPHA:500478,Disorder,[Disease],Squamous cell carcinoma of the oropharynx,,"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, which may arise in association with high-risk HPV in a subset of cases. HPV-positive tumors have a strong predilection for the base of tongue and the palatine tonsils and typically present at an advanced clinical stage with cervical lymphadenopathy. They are associated with significantly better prognosis than HPV-negative tumors, which more commonly involve the soft palate, manifest as sore throat and difficulty in swallowing or a neck mass, and occur in older patients. Smoking and alcohol consumption are important risk factors.",[275355],,,,,,,, +GARD:17929,Active,Orphanet,ORPHA:500481,Subtype of disorder,[Histopathological subtype],Squamous cell carcinoma of salivary glands,,,[275355],,,,,,,, +GARD:17930,Active,Orphanet,ORPHA:500545,Disorder,[Disease],Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,,"A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.",[617393],,,,,,,, +GARD:17931,Active,Orphanet,ORPHA:500548,Disorder,[Malformation syndrome],Osteosclerotic metaphyseal dysplasia,,"A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends, and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.",[615198],,,,,,,, +GARD:17932,Active,Orphanet,ORPHA:502363,Disorder,[Disease],Squamous cell carcinoma of the oral cavity,,"A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (such as smoking, alcohol consumption, and tobacco chewing). Patients present with a variably white, erythematous, mixed, nodular, or ulcerated lesion, which may cause discomfort, pain, or reduced mobility of the tongue. The tumor is aggressive with a propensity for local invasion and early lymph node metastasis.",[275355],,,,,,,, +GARD:17933,Active,Orphanet,ORPHA:502366,Disorder,[Disease],Squamous cell carcinoma of the lip,,"A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, most commonly arising at the vermilion border of the lower lip. Patients present with a usually asymptomatic lesion of variable appearance, such as ulceration, a focus of whitish thickening, a dry atrophic area, or an area of persistent chapping and localized flaking and crusting. Carcinomas of the lower lip tend to progress slowly (as opposed to those of the upper lip). Invasion of adjacent structures, including perineural spread, is typical, with a variable rate of metastasis, depending on the location.",[275355],,,,,,,, +GARD:17934,Active,Orphanet,ORPHA:502423,Disorder,[Disease],Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,[Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome],"A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy.",[617675],,,,,,,, +GARD:17935,Active,Orphanet,ORPHA:502434,Disorder,[Malformation syndrome],STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).",[617635],,,,,,,, +GARD:17936,Active,Orphanet,ORPHA:502444,Disorder,[Disease],Alkaline ceramidase 3 deficiency,"[ACER3-related early childhood-onset progressive leukodystrophy, Leukodystrophy due to alkaline ceramidase 3 deficiency]","A rare genetic leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature, and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination.",[617762],,,,,,,, +GARD:17937,Active,Orphanet,ORPHA:504476,Disorder,[Disease],Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,"[CABV syndrome, CANVAS, Cerebellar ataxia with bilateral vestibulopathy syndrome]","A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.",[614575],,,,,,,, +GARD:17938,Active,Orphanet,ORPHA:504523,Disorder,[Disease],Severe combined immunodeficiency due to LAT deficiency,[SCID due to LAT deficiency],"A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.",[617514],,,,,,,, +GARD:17939,Active,Orphanet,ORPHA:504530,Disorder,[Disease],Combined immunodeficiency due to Moesin deficiency,"[CID due to Moesin deficiency, MSN-related combined immunodeficiency, X-linked Moesin-associated immunodeficiency]","A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia.",[300988],,,,,,,, +GARD:17940,Active,Orphanet,ORPHA:505216,Disorder,[Disease],3-methylglutaconic aciduria type 9,"[3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome, MGA9]","A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.",[617698],,,,,,,, +GARD:17941,Active,Orphanet,ORPHA:505227,Disorder,[Disease],Combined immunodeficiency due to GINS1 deficiency,"[CID due to GINS1 deficiency, Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia, Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia]","A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism.",[617827],,,,,,,, +GARD:17942,Active,Orphanet,ORPHA:505237,Disorder,[Malformation syndrome],Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay, intellectual disability, early-onset seizures, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip, and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities, or cortical atrophy.",[617452],,,,,,,, +GARD:17943,Active,Orphanet,ORPHA:505242,Disorder,[Disease],Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,"[Cerebrorenal syndrome, Perez type]","A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalemia.",[617595],,,,,,,, +GARD:17944,Active,Orphanet,ORPHA:505248,Disorder,[Malformation syndrome],Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,[Mucopolysaccharidosis-like plus disease],"A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.",[617303],,,,,,,, +GARD:17945,Active,Orphanet,ORPHA:506307,Disorder,[Malformation syndrome],Stromme syndrome,"[Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome, Jejunal atresia-microcephaly-ocular anomalies syndrome]","A rare multiple congenital anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic, edematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb edema, thrombocytopenia) are variably present. Rarely, cases without intestinal atresia, microcephaly or developmental delay can be found. Severe lethal cases have also been reported.",[243605],,,,,,,, +GARD:17946,Active,Orphanet,ORPHA:506353,Disorder,[Disease],Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,[Autosomal recessive complex SPG due to Kennedy pathway dysfunction],"A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions.",[618768],,,,,,,, +GARD:17947,Active,Orphanet,ORPHA:506358,Disorder,[Malformation syndrome],Gabriele-de Vries syndrome,[YY1 haploinsufficiency syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities, and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac, and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety).",[617557],,,,,,,, +GARD:17948,Active,Orphanet,ORPHA:508498,Disorder,[Malformation syndrome],Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.",[615583],,,,,,,, +GARD:17949,Active,Orphanet,ORPHA:508512,Disorder,[Disease],Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,,"A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.",[618097],,,,,,,, +GARD:17950,Active,Orphanet,ORPHA:508523,Disorder,[Disease],Hyperphenylalaninemia due to DNAJC12 deficiency,[Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia],"A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.",[617384],,,,,,,, +GARD:17951,Active,Orphanet,ORPHA:508529,Disorder,[Disease],Intermediate epidermolysis bullosa simplex with cardiomyopathy,[Intermediate EBS with cardiomyopathy],"A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes.",[617294],,,,,,,, +GARD:17952,Active,Orphanet,ORPHA:513436,Disorder,[Disease],Autosomal recessive spastic paraplegia type 78,[SPG78],"A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.",[617225],,,,,,,, +GARD:17953,Active,Orphanet,ORPHA:513456,Disorder,[Disease],Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,[Skraban-Deardorff syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, seizures, abnormal gait, and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva, and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems, and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles.",[617616],,,,,,,, +GARD:17954,Active,Orphanet,ORPHA:519388,Disorder,[Malformation syndrome],Autosomal recessive anterior segment dysgenesis,,"A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.",[617319],,,,,,,, +GARD:17955,Active,Orphanet,ORPHA:521258,Disorder,[Malformation syndrome],Xq25 microduplication syndrome,"[Dup(X)(q25), Xq25 microtriplication]","A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.",[300979],,,,,,,, +GARD:17956,Active,Orphanet,ORPHA:521305,Disorder,[Disease],Proximal myopathy with focal depletion of mitochondria,,"A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.",[600706],,,,,,,, +GARD:17957,Active,Orphanet,ORPHA:521390,Disorder,[Malformation syndrome],Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,[SINO syndrome],"A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachyplagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported.",[617296],,,,,,,, +GARD:17958,Active,Orphanet,ORPHA:521406,Disorder,[Disease],Dystonia-parkinsonism-hypermanganesemia syndrome,,"A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.",[617013],,,,,,,, +GARD:17959,Active,Orphanet,ORPHA:521414,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2DD,"[ATP1A1-related CMT2, ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2, CMT2DD]","A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype.",[618036],,,,,,,, +GARD:17960,Active,Orphanet,ORPHA:521426,Disorder,[Malformation syndrome],PLAA-associated neurodevelopmental disorder,[PLAAND],"A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy.",[617527],,,,,,,, +GARD:17961,Active,Orphanet,ORPHA:521438,Disorder,[Malformation syndrome],Congenital vertebral-cardiac-renal anomalies syndrome,[Congenital NAD deficiency disorder],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.","[618845, 617660, 617661]",,,,,,,, +GARD:17962,Active,Orphanet,ORPHA:522077,Disorder,[Disease],Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,[SYT1-related neurodevelopmental disorder],"A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.",[618218],,,,,,,, +GARD:17963,Active,Orphanet,ORPHA:527450,Disorder,[Malformation syndrome],Severe myopia-generalized joint laxity-short stature syndrome,,"A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss.",[617662],,,,,,,, +GARD:17964,Active,Orphanet,ORPHA:527497,Disorder,[Disease],NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,"[Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia, SPAX8]","A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss.",[617560],,,,,,,, +GARD:17965,Active,Orphanet,ORPHA:528084,Disorder,[Disease],Non-specific syndromic intellectual disability,[Complex neurodevelopmental disorder],"A rare genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems.","[618569, 619099, 619072, 619000, 618971, 309590, 618659, 619320, 618914, 619264, 619243, 618430, 619091, 619244, 606053, 619092, 619005, 619056, 619268, 301029, 619239, 618906, 618470, 618653, 619314, 619306, 619031, 619125, 619083, 618922, 618342, 618292, 618974, 619076, 618009, 619157, 617755, 619149]",,,,,,,, +GARD:17966,Active,Orphanet,ORPHA:528091,Disorder,[Disease],Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,,"A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported.",[617021],,,,,,,, +GARD:17967,Active,Orphanet,ORPHA:528105,Disorder,[Disease],Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,[HELIX syndrome],"A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria.",[617671],,,,,,,, +GARD:17968,Active,Orphanet,ORPHA:529574,Disorder,[Malformation syndrome],Duane retraction syndrome with congenital deafness,"[DRS with deafness, DRS with hearing loss, DURS with deafness, DURS with hearing loss, Duane retraction syndrome with congenital hearing loss]","A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.",[617041],,,,,,,, +GARD:17969,Active,Orphanet,ORPHA:529665,Disorder,[Malformation syndrome],Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,[GPAA1-related biosynthesis defect],"A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.",[617810],,,,,,,, +GARD:17970,Active,Orphanet,ORPHA:529965,Disorder,[Malformation syndrome],Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,[Pilarowski-Bjornsson syndrome],"A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated.",[617682],,,,,,,, +GARD:17971,Active,Orphanet,ORPHA:529970,Subtype of disorder,[Clinical subtype],Male infertility due to acephalic spermatozoa,[Acephalic spermatozoa syndrome],,"[618112, 617187]",,,,,,,, +GARD:17972,Active,Orphanet,ORPHA:530995,Disorder,[Disease],Mixed phenotype acute leukemia,[MPAL],"A group of rare acute leukemias of ambiguous lineage characterized by the presence of separate populations of blasts of more than one lineage (bilineal), a single population of blasts coexpressing antigens of more than one lineage (biphenotypic), or a combination thereof. The diagnosis relies on immunophenotyping, the T-cell component being characterized by strong expression of cytoplasmic CD3, usually in the absence of surface CD3, the B-cell component expressing CD19, almost always together with CD10, cCD79a, CD22, or PAX5, while the most specific hallmark of the myeloid component is the presence of myeloperoxidase in the blast cytoplasm.",[601626],,,,,,,, +GARD:17973,Active,Orphanet,ORPHA:535458,Subtype of disorder,[Etiological subtype],Familial GPIHBP1 deficiency,[Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency],,[615947],,,,,,,, +GARD:17974,Active,Orphanet,ORPHA:536467,Subtype of disorder,[Clinical subtype],B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,"[B3GALT6-related spEDS, B3GALT6-related spondylodysplastic EDS, Beta3GalT6-deficient EDS, Ehlers-Danlos syndrome progeroid type 2, spEDS-B3GALT6]","A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm.",[615349],,,,,,,, +GARD:17975,Active,Orphanet,ORPHA:536532,Disorder,[Disease],Classical-like Ehlers-Danlos syndrome type 2,"[AEBP1-related EDS, AEBP1-related Ehlers-Danlos syndrome, Classical-like EDS type 2, clEDS type 2]","A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive.",[618000],,,,,,,, +GARD:17976,Active,Orphanet,ORPHA:538096,Disorder,[Disease],Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy,,"A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.",[604431],,,,,,,, +GARD:17977,Active,Orphanet,ORPHA:538574,Disorder,[Disease],Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,[Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome],"A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near‐normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy.",[148360],,,,,,,, +GARD:17978,Active,Orphanet,ORPHA:538958,Disorder,[Disease],Combined immunodeficiency due to CD70 deficiency,[CID due to CD70 deficiency],"A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.",[618261],,,,,,,, +GARD:17979,Active,Orphanet,ORPHA:538963,Disorder,[Disease],Combined immunodeficiency due to ITK deficiency,"[Autosomal recessive lymphoproliferative disease due to ITK deficiency, ITK deficiency]","A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis, and smooth muscle tumor. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease.",[613011],,,,,,,, +GARD:1798,Legacy,GARD,,,,,,,,,,,,Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:17980,Active,Orphanet,ORPHA:541423,Disorder,[Disease],Growth delay-intellectual disability-hepatopathy syndrome,,"A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.",[617093],,,,,,,, +GARD:17981,Active,Orphanet,ORPHA:542301,Disorder,[Disease],Combined immunodeficiency due to CARMIL2 deficiency,[Combined immunodeficiency due to RLTPR deficiency],"A rare immune dysregulation disease with immunodeficiency characterized by infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumors have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.",[618131],,,,,,,, +GARD:17982,Active,Orphanet,ORPHA:542306,Disorder,[Disease],GNB5-related intellectual disability-cardiac arrhythmia syndrome,,"A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.",[617173],,,,,,,, +GARD:17983,Active,Orphanet,ORPHA:542585,Disorder,[Disease],Auditory neuropathy-optic atrophy syndrome,,"A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.",[617717],,,,,,,, +GARD:17984,Active,Orphanet,ORPHA:542657,Disorder,[Disease],Isolated hyperchlorhidrosis,[Carbonic anhydrase XII deficiency],"A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations.",[143860],,,,,,,, +GARD:17985,Active,Orphanet,ORPHA:544469,Disorder,[Malformation syndrome],PRUNE1-related neurological syndrome,,"A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.",[617481],,,,,,,, +GARD:17986,Active,Orphanet,ORPHA:544472,Subtype of disorder,[Etiological subtype],Atypical hemolytic uremic syndrome with complement gene abnormality,"[Atypical HUS with complement gene abnormality, aHUS with complement gene abnormality]",,"[235400, 615008, 612922, 612926, 612923, 612924, 609814, 612925]",,,,,,,, +GARD:17987,Active,Orphanet,ORPHA:544488,Disorder,[Disease],Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,"[Bachmann-Bupp syndrome, Ornithine decarboxylase deficiency]","A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces.",[619075],,,,,,,, +GARD:17988,Active,Orphanet,ORPHA:544503,Disorder,[Disease],RNF13-related severe early-onset epileptic encephalopathy,[RNF13-related severe EOEE],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.",[618379],,,,,,,, +GARD:17989,Active,Orphanet,ORPHA:544602,Disorder,[Disease],Congenital myopathy with reduced type 2 muscle fibers,"[Congenital myopathy with fast-twitch fiber atrophy, Congenital myopathy with reduced type II muscle fibers, Congenital myopathy with type 2 muscle fiber atrophy, Congenital myopathy with type II fiber atrophy]","A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal.",[618414],,,,,,,, +GARD:1799,Legacy,GARD,,,,,,,,,,,,Delta-sarcoglycanopathy,TRUE,FALSE,Active +GARD:17990,Active,Orphanet,ORPHA:555402,Disorder,[Disease],NAD(P)HX dehydratase deficiency,[CARKD deficiency],"A rare neurometabolic disease characterized by infantile onset of repeated episodes of developmental regression and neurodegeneration, often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia, and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy, and pancytopenia have been reported in association. The condition is fatal in the first years of life.",[618321],,,,,,,, +GARD:17991,Active,Orphanet,ORPHA:555407,Disorder,[Disease],NAD(P)HX epimerase deficiency,[Apolipoprotein A-I binding protein deficiency],"A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.",[617186],,,,,,,, +GARD:17992,Active,Orphanet,ORPHA:556955,Disorder,[Disease],Pancreatic agenesis-holoprosencephaly syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder.",[618500],,,,,,,, +GARD:17993,Active,Orphanet,ORPHA:557003,Disorder,[Disease],Oculocerebrodental syndrome,[Oculo-cerebro-dental syndrome],"A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.",[618440],,,,,,,, +GARD:17994,Active,Orphanet,ORPHA:557064,Disorder,[Disease],Neonatal epileptic encephalopathy due to glutaminase deficiency,,"A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.",[618328],,,,,,,, +GARD:17995,Active,Orphanet,ORPHA:562509,Disorder,[Disease],Heme oxygenase-1 deficiency,[HO-1 deficiency],"A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism, and hepatomegaly.",[614034],,,,,,,, +GARD:17996,Active,Orphanet,ORPHA:562538,Disorder,[Disease],Autosomal recessive extra-oral halitosis,"[MTO-deficiency, Methanethiol oxidase deficiency]",,[618148],,,,,,,, +GARD:17997,Active,Orphanet,ORPHA:562559,Disorder,[Malformation syndrome],Anterior maxillary protrusion-strabismus-intellectual disability syndrome,[MRAMS syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition.",[613671],,,,,,,, +GARD:17998,Active,Orphanet,ORPHA:562569,Disorder,[Malformation syndrome],TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome,,"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.",[618316],,,,,,,, +GARD:17999,Active,Orphanet,ORPHA:565624,Disorder,[Disease],Combined oxidative phosphorylation defect type 39,"[COXPD39, GFM2-related combined oxidative phosphorylation defect]",,[618397],,,,,,,, +GARD:180,Active,Orphanet,ORPHA:182050,Disorder,[Disease],MYH9-related disease,"[MYH9-RD, MYH9-related disorder, MYH9-related syndrome, MYH9-related syndromic thrombocytopenia]","MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.",[155100],,,,,MYH9 related thrombocytopenia,TRUE,FALSE,Active +GARD:18000,Active,Orphanet,ORPHA:565788,Disorder,[Disease],Infantile inflammatory bowel disease with neurological involvement,,"A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported.",[618213],,,,,,,, +GARD:18001,Active,Orphanet,ORPHA:565858,Disorder,[Malformation syndrome],Craniosynostosis-microretrognathia-severe intellectual disability syndrome,,,[618265],,,,,,,, +GARD:18002,Active,Orphanet,ORPHA:566243,Disorder,[Disease],Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,"[RTHb, Resistance to thyroid hormone beta, Resistance to thyroid hormone due to a mutation in TRb]","A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.","[188570, 274300, 145650]",,,,,,,, +GARD:18003,Active,Orphanet,ORPHA:567548,Disorder,[Clinical syndrome],Idiopathic steroid-resistant nephrotic syndrome,[Idiopathic SRNS],"A rare, idiopathic nephrotic syndrome characterized by the triad of proteinuria, hypoalbuminemia and edema in patients who do not respond, or only partially respond, to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy.",[619263],,,,,,,, +GARD:18004,Active,Orphanet,ORPHA:569290,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 6,[PMPCB deficiency],,[617954],,,,,,,, +GARD:18005,Active,Orphanet,ORPHA:570422,Disorder,[Disease],Galactose mutarotase deficiency,"[GALM deficiency, Galactosemia type 4]","A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet.",[618881],,,,,,,, +GARD:18006,Active,Orphanet,ORPHA:570491,Disorder,[Disease],QRSL1-related combined oxidative phosphorylation defect,[QRSL1-related COXPD],"A rare mitochondrial disease characterized by prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss, and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported.",[618835],,,,,,,, +GARD:18007,Active,Orphanet,ORPHA:572013,Disorder,[Malformation syndrome],Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,,,[618325],,,,,,,, +GARD:18008,Active,Orphanet,ORPHA:572354,Subtype of disorder,[Clinical subtype],Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,"[BPES type 1, Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure]",,[110100],,,,,,,, +GARD:18009,Active,Orphanet,ORPHA:572385,Subtype of disorder,[Clinical subtype],Brachydactyly type B1,,"A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands.",[113000],,,,,,,, +GARD:18010,Active,Orphanet,ORPHA:572543,Subtype of disorder,[Clinical subtype],RFVT2-related riboflavin transporter deficiency,"[RTD2, Riboflavin transporter deficiency 2]",,[211530],,,,,,,, +GARD:18011,Active,Orphanet,ORPHA:572768,Subtype of disorder,[Clinical subtype],Microcephaly-micromelia syndrome,[MIMIS],,[251230],,,,,,,, +GARD:18012,Active,Orphanet,ORPHA:572798,Disorder,[Disease],WARS2-related combined oxidative phosphorylation defect,[Mitochondrial tryptophanyl-tRNA synthetase deficiency],,[617710],,,,,,,, +GARD:18013,Active,Orphanet,ORPHA:576283,Subtype of disorder,[Etiological subtype],SATB2-associated syndrome due to a pathogenic variant,[SATB2-associated syndrome due to a point mutation],,[612313],,,,,,,, +GARD:18014,Active,Orphanet,ORPHA:576349,Disorder,[Disease],NLRC4-related familial cold autoinflammatory syndrome,"[FCAS4, Familial cold autoinflammatory syndrome 4, NLRC4-related familial cold urticaria]",,[616115],,,,,,,, +GARD:18015,Active,Orphanet,ORPHA:580940,Disorder,[Malformation syndrome],QRICH1-related intellectual disability-chondrodysplasia syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip, and low-set, cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported.",[617982],,,,,,,, +GARD:18016,Active,Orphanet,ORPHA:589435,Disorder,[Malformation syndrome],Spondylometaphyseal dysplasia-corneal dystrophy syndrome,[SMD-corneal dystrophy syndrome],,[618961],,,,,,,, +GARD:18017,Active,Orphanet,ORPHA:597733,Disorder,[Disease],Oculocutaneous albinism type 8,[OCA8],,[619165],,,,,,,, +GARD:18018,Active,Orphanet,ORPHA:597874,Disorder,[Disease],MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome,,,[618367],,,,,,,, +GARD:18019,Active,Orphanet,ORPHA:598603,Disorder,[Malformation syndrome],Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome,[FHEIG syndrome],,[618381],,,,,,,, +GARD:1802,Active,Orphanet,ORPHA:283,Disorder,[Disease],Demodicidosis,[Demodicosis],"Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.",,,,,,Demodicidosis,TRUE,FALSE,Active +GARD:18020,Active,Orphanet,ORPHA:603448,Disorder,[Malformation syndrome],Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,[CIMDAG syndrome],,[619273],,,,,,,, +GARD:18021,Active,Orphanet,ORPHA:603494,Disorder,[Malformation syndrome],Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome,[COMMAD syndrome],,[617306],,,,,,,, +GARD:18022,Active,Orphanet,ORPHA:610569,Disorder,[Disease],KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome,[Alkuraya-Kucinskas syndrome],,[617822],,,,,,,, +GARD:18023,Active,Orphanet,ORPHA:610573,Disorder,[Disease],CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome,,,[619173],,,,,,,, +GARD:18024,Active,Orphanet,ORPHA:611201,Disorder,[Malformation syndrome],Oculogastrointestinal-neurodevelopmental syndrome,[OGIN Syndrome],,[619318],,,,,,,, +GARD:18025,Active,Orphanet,ORPHA:611207,Disorder,[Clinical syndrome],Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome,[SHILCA syndrome],,[619260],,,,,,,, +GARD:18026,Active,Orphanet,ORPHA:611216,Disorder,[Disease],Aplastic anemia-intellectual disability-dwarfism syndrome,[AMeD syndrome],,[619151],,,,,,,, +GARD:18027,Active,Orphanet,ORPHA:611223,Disorder,[Malformation syndrome],EN1-related dorsoventral syndrome,"[ENDOVE syndrome, ENDOVES]",,"[619218, 619217]",,,,,,,, +GARD:18028,Active,Orphanet,ORPHA:611237,Disorder,[Disease],Parkinsonism with polyneuropathy,,,[619279],,,,,,,, +GARD:18029,Active,Orphanet,ORPHA:611247,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 11,"[PCH11, Pontocerebellar hypoplasia due to TBC1D23]",,[617695],,,,,,,, +GARD:18030,Active,Orphanet,ORPHA:611256,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 12,"[COASY-related pontocerebellar hypoplasia, PCH12]",,[618266],,,,,,,, +GARD:18031,Active,Orphanet,ORPHA:613267,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 13,[PCH13],,[618606],,,,,,,, +GARD:18032,Active,Orphanet,ORPHA:613274,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 14,[PCH14],,"[619302, 619301]",,,,,,,, +GARD:18033,Active,Orphanet,ORPHA:615938,Disorder,[Clinical syndrome],Spastic paraparesis-cataracts-speech delay syndrome,[Fatty acyl-CoA reductase 1 superactivity],,[619338],,,,,,,, +GARD:18034,Active,Orphanet,ORPHA:615954,Disorder,[Clinical syndrome],Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome,"[Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome, Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome]",,[618810],,,,,,,, +GARD:18035,Active,Orphanet,ORPHA:615964,Disorder,[Disease],Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate,"[Acute reversible leukoencephalopathy due to SLC13A3 deficiency, Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency]",,[618384],,,,,,,, +GARD:18036,Active,Orphanet,ORPHA:615983,Subtype of disorder,[Etiological subtype],Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation,,,[618810],,,,,,,, +GARD:18037,Active,Orphanet,ORPHA:615986,Subtype of disorder,[Etiological subtype],Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster,[Lethal 1p36.33 deletion syndrome],,[618810],,,,,,,, +GARD:18038,Active,Orphanet+OMIM,OMIM:606721,Subtype of disorder,[Disease subtype],"Lipodystrophy, familial partial, type 7","[Partial lipodystrophy, congenital cataracts, with or without neurodegeneration syndrome]","Lipodystrophies are rare disorders characterized by loss of body fat from various regions and predisposition to metabolic complications of insulin resistance and lipid abnormalities. FPLD7 is an autosomal dominant disorder with a highly variable phenotype. Additional features, including early-onset cataracts and later onset of spasticity of the lower limbs, have been noted in some patients (summary by {3:Garg et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see {151660}.",[606721],[528],[Congenital generalized lipodystrophy],[13388],,,,, +GARD:18039,Active,Orphanet+OMIM,OMIM:233300,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 1,"[gonadal dysgenesis, xx type, xx gonadal dysgenesis, ovarian failure, hypergonadotropic, Ovarian dysgenesis, hypergonadotropic, autosomal recessive, ovarian dysgenesis, hypergonadotropic, with normal karyotype]","Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea ({16:Timmreck and Reindollar, 2003}).\n\n<Subhead> Genetic Heterogeneity of Ovarian Dysgenesis\n\nEven in its isolated form, 46,XX ovarian dysgenesis is etiologically heterogeneous. See ODG2 ({300510}), caused by mutation in the BMP15 gene ({300247}); ODG3 ({614324}), caused by mutation in the PSMC3IP gene ({608665}); ODG4 ({616185}), caused by mutation in the MCMDC1 gene ({610098}); ODG5 ({617690}), caused by mutation in the SOHLH1 gene ({610224}); ODG6 ({618078}), caused by mutation in the NUP107 gene ({607617}); ODG7 ({618117}), caused by mutation in the MRPS22 gene ({605810}); ODG8 ({618187}), caused by mutation in the ESR2 gene ({601663}); ODG9 ({619665}), caused by mutation in the SPIDR gene ({615384}); and ODG10 ({619834}), caused by mutation in the ZSWIM7 gene ({614535}).\n\nSee also ovarian dysgenesis with sensorineural deafness, or Perrault syndrome ({233400}).",[233300],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:1804,Active,Orphanet,ORPHA:93622,Subtype of disorder,[Clinical subtype],Dent disease type 1,,"A rare X-linked monogenic renal tubular disease, characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is absent.","[310468, 300009, 308990, 300554]",,,,,Dent disease 1,TRUE,FALSE,Retired +GARD:18040,Active,Orphanet+OMIM,OMIM:300510,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 2,"[Ovarian dysgenesis, hypergonadotropic, x-linked, ovarian failure, hypergonadotropic, due to ovarian dysgenesis]","Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea ({8:Timmreck and Reindollar, 2003}). Most cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development ({9:Zinn et al., 1998}; {7:Simpson and Rajkovic, 1999}; {5:Marozzi et al., 2000}).",[300510],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18041,Active,Orphanet+OMIM,OMIM:614324,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 3,,,[614324],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18042,Active,Orphanet+OMIM,OMIM:618078,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 6,,"Ovarian dysgenesis-6 is characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and absence of ovarian tissue on imaging studies. Males appear to be unaffected ({1:Weinberg-Shukron et al., 2015}).\n\nFor a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 ({233300}).",[618078],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18043,Active,Orphanet+OMIM,OMIM:618117,Subtype of disorder,[Malformation syndrome subtype],Ovarian dysgenesis 7,,"Ovarian dysgenesis-7 (ODG7) is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles ({1:Chen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 ({233300}).",[618117],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18044,Active,Orphanet+OMIM,OMIM:618723,Subtype of disorder,[Malformation syndrome subtype],Premature ovarian failure 16,,"Premature ovarian failure-16 (POF16) is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone (FSH; see {136530}) levels and low estradiol levels. Ovaries are smaller than normal and show a solid echo pattern with no antral follicle ({1:Zhang et al., 2018}).",[618723],[243],"[46,XX gonadal dysgenesis]",[5671],,,,, +GARD:18045,Active,Orphanet+OMIM,OMIM:123100,Subtype of disorder,[Morphological anomaly subtype],Craniosynostosis 1,"[craniostenosis, Crs]","Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {8:Fitzpatrick, 2013}). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis.\n\n<Subhead> Genetic Heterogeneity of Craniosynostosis\n\nCraniosynostosis-2 (CRS2; {604757}) is caused by mutation in the MSX2 gene ({123101}) on chromosome 5q35. Craniosynostosis-3 (CRS3; {615314}) is caused by mutation in the TCF12 gene ({600480}) on chromosome 15q21. Craniosynostosis-4 (CRS4; {600775}) is caused by mutation in the ERF gene ({611888}) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5; {615529}) is conferred by variation in the ALX4 gene ({605420}) on chromosome 11p11. Craniosynostosis-6 (CRS6; {616602}) is caused by mutation in the ZIC1 gene ({600470}) on chromosome 3q24. Susceptibility to craniosynostosis-7 (CRS7; {617439}) is conferred by variation in the SMAD6 gene ({602931}) on chromosome 15q22.",[123100],"[35093, 35099]","[Non-syndromic sagittal craniosynostosis, Non-syndromic bicoronal craniosynostosis]","[16633, 16634]",,,,, +GARD:18046,Active,Orphanet+OMIM,OMIM:615529,Subtype of disorder,[Morphological anomaly subtype],"Craniosynostosis 5, susceptibility to",,"Premature fusion of the various sutures in the human neurocranium (skull vault and base) is defined as craniosynostosis (CRS). Clinical consequences include abnormal head shape and increased intracranial pressure, which may result in neurologic symptoms, developmental delay, and hearing or vision problems. Approximately 80% of cases are classified as nonsyndromic craniosynostosis and present as isolated suture fusion with no other associated anomalies. Sagittal suture fusion is the most common form of isolated craniosynostosis, accounting for 40 to 58% of all isolated cases (summary by {2:Yagnik et al., 2012}).\n\nFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100}).",[615529],[35093],[Non-syndromic sagittal craniosynostosis],[16633],,,,, +GARD:18047,Active,Orphanet+OMIM,OMIM:615314,Subtype of disorder,[Morphological anomaly subtype],Craniosynostosis 3,,"Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {2:Fitzpatrick, 2013}). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms ({4:Sharma et al., 2013}).\n\nFor discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100}).",[615314],[35099],[Non-syndromic bicoronal craniosynostosis],[16634],,,,, +GARD:18048,Active,Orphanet+OMIM,OMIM:616602,Subtype of disorder,[Morphological anomaly subtype],Craniosynostosis 6,,"Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures ({2:Twigg et al., 2015}).\n\nFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100}).\n\nStructural brain anomalies with impaired intellectual development and craniosynostosis (BAIDCS; {618736}) is an allelic disorder.",[616602],[35099],[Non-syndromic bicoronal craniosynostosis],[16634],,,,, +GARD:18049,Active,Orphanet+OMIM,OMIM:121400,Subtype of disorder,[Morphological anomaly subtype],"Cornea plana 1, autosomal dominant",,"Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA1, an autosomal dominant form of the disorder, is mild (summary by {5:Tahvanainen et al., 1996}).\n\n<Subhead> Genetic Heterogeneity of Cornea Plana\n\nAlso see CNA2 ({217300}), an autosomal recessive form of the disorder, which is severe and frequently associated with additional ocular manifestations.",[121400],[53691],[Congenital cornea plana],[16657],,,,, +GARD:18050,Active,Orphanet+OMIM,OMIM:217300,Subtype of disorder,[Morphological anomaly subtype],"Cornea plana 2, autosomal recessive",,"Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by {11:Tahvanainen et al., 1996}).\n\nFor discussion of genetic heterogeneity of CNA, see CNA1 ({121400}).",[217300],[53691],[Congenital cornea plana],[16657],,,,, +GARD:18051,Active,Orphanet+OMIM,OMIM:168500,Subtype of disorder,[Malformation syndrome subtype],Parietal foramina 1,"[parietal foramina, symmetric, Pfm, cranium bifidum, hereditary, catlin marks, cranium bifidum occultum, foramina parietalia permagna]","Parietal foramina are symmetric, oval defects in the parietal bone situated on each side of the sagittal suture and separated from each other by a narrow bridge of bone. The size of the openings decrease with age and considerable intrafamilial variability is observed (summary by {12:Spruijt et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Parietal Foramina\n\nSee also PFM2 ({609597}) and the 11p11.2 deletion syndrome ({601224}), in which parietal foramina are caused by haploinsufficiency of the ALX4 gene ({605420}) on chromosome 11p.\n\nA third locus for PFM (PFM3; {609566}) has been mapped to chromosome 4q21-q23.",[168500],[60015],[Enlarged parietal foramina],[16662],,,,, +GARD:18052,Active,Orphanet+OMIM,OMIM:609566,Subtype of disorder,[Malformation syndrome subtype],Parietal foramina 3,,"Parietal foramina-3 is a nonsyndromic developmental defect characterized by symmetrical oval holes in the parietal bone ({1:Chen et al., 2003}).\n\nFor a discussion of genetic heterogeneity of parietal foramina, see {168500}.",[609566],[60015],[Enlarged parietal foramina],[16662],,,,, +GARD:18053,Active,Orphanet+OMIM,OMIM:609597,Subtype of disorder,[Malformation syndrome subtype],Parietal foramina 2,,"Parietal foramina-2 (PFM2) is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by {1:Altunoglu et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 ({168500}).",[609597],[60015],[Enlarged parietal foramina],[16662],,,,, +GARD:18054,Active,Orphanet+OMIM,OMIM:211400,Subtype of disorder,[Disease subtype],Bronchiectasis with or without elevated sweat chloride 1,[Cystic fibrosis-like syndrome],,[211400],[60033],[Idiopathic bronchiectasis],[16664],,,,, +GARD:18055,Active,Orphanet+OMIM,OMIM:613021,Subtype of disorder,[Disease subtype],Bronchiectasis with or without elevated sweat chloride 2,[Cystic fibrosis-like syndrome],,[613021],[60033],[Idiopathic bronchiectasis],[16664],,,,, +GARD:18056,Active,Orphanet+OMIM,OMIM:613071,Subtype of disorder,[Disease subtype],Bronchiectasis with or without elevated sweat chloride 3,[Cystic fibrosis-like syndrome],,[613071],[60033],[Idiopathic bronchiectasis],[16664],,,,, +GARD:18057,Active,Orphanet+OMIM,OMIM:600131,Subtype of disorder,[Disease subtype],"Epilepsy, childhood absence, susceptibility to, 1",,"Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; {600669}), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge (SWD) on EEG. Seizure onset occurs between 3 and 8 years of age and seizures generally occur multiple times per day. About 70% of patients experience spontaneous remission of seizures, often around adolescence. There are no structural neuropathologic findings in patients with ECA ({3:Crunelli and Leresche, 2002}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Childhood Absence Epilepsy\n\nThe ECA1 locus has been mapped to chromosome 8q24; see also EIG1 (see {600669}), which also maps to 8q24.\n\nSusceptibility to the development of childhood absence epilepsy may be conferred by variation in several genes: ECA2 (see {607681}), conferred by variation in the GABRG2 gene ({137164}) on chromosome 5q31.1; ECA4 ({611136}), conferred by variation in the GABRA1 gene ({137160}) on chromosome 5q34; ECA5 ({612269}), conferred by variation in the GABRB3 gene ({137192}) on chromosome 15q12; and ECA6 (see {611942}), conferred by variation in the CACNA1H gene ({607904}) on chromosome 16p13.\n\nSee EIG11 ({607628}) for discussion of a locus previously designated ECA3 on chromosome 3q26.",[600131],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:18058,Active,Orphanet+OMIM,OMIM:607681,Subtype of disorder,[Disease subtype],"Febrile seizures, familial, 8",,"Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years. Many of these patients may later develop absence seizures, which may also spontaneously remit, whereas a few may continue to have various types of febrile and afebrile seizures that persist beyond childhood, consistent with GEFS+. There is phenotypic variability in the seizure type, even within a family carrying the same mutation, suggesting that other loci may be involved (summary by {9:Singh et al., 1999} and {7:Marini et al., 2003}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.\n\nFor a phenotypic description and discussion of genetic heterogeneity of childhood absence epilepsy, see {600131}.",[607681],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:18059,Active,Orphanet+OMIM,OMIM:611136,Subtype of disorder,[Disease subtype],"Epilepsy, idiopathic generalized, susceptibility to, 13",,"Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see {600669}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 ({600131}) and JME ({254770}), respectively.",[611136],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:1806,Active,Orphanet,ORPHA:99791,Subtype of disorder,[Clinical subtype],Dentin dysplasia type II,"[DD-II, DTDP2]","Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition.",[125420],,,,,"Dentin dysplasia, coronal",TRUE,FALSE,Active +GARD:18060,Active,Orphanet+OMIM,OMIM:611942,Subtype of disorder,[Disease subtype],"Epilepsy, childhood absence, susceptibility to, 6",,"Childhood absence epilepsy is a subtype of idiopathic generalized epilepsy. For a general phenotypic description and a discussion of genetic heterogeneity of childhood absence epilepsy and idiopathic generalized epilepsy, see ECA1 ({600131}) and ({600669}), respectively.",[611942],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:18061,Active,Orphanet+OMIM,OMIM:612269,Subtype of disorder,[Disease subtype],"Epilepsy, childhood absence, susceptibility to, 5",,,[612269],[64280],[Childhood absence epilepsy],[16667],,,,, +GARD:18062,Active,Orphanet+OMIM,OMIM:602032,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 4, hair/nail type","[Ectodermal dysplasia, 'pure' hair/nail type]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.",[602032],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18063,Active,Orphanet+OMIM,OMIM:614927,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 5, hair/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.",[614927],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18064,Active,Orphanet+OMIM,OMIM:614928,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 6, hair/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.",[614928],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18065,Active,Orphanet+OMIM,OMIM:614929,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 7, hair/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.",[614929],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18066,Active,Orphanet+OMIM,OMIM:614931,Subtype of disorder,[Malformation syndrome subtype],"Ectodermal dysplasia 9, hair/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nEctodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by {2:Lin et al., 2012}).",[614931],[69084],[Pure hair and nail ectodermal dysplasia],[16680],,,,, +GARD:18067,Active,Orphanet+OMIM,OMIM:618252,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 32",,,[618252],[70474],[Leigh syndrome with cardiomyopathy],[16685],,,,, +GARD:18068,Active,Orphanet+OMIM,OMIM:605432,Subtype of disorder,[Malformation syndrome subtype],Radioulnar synostosis with amegakaryocytic thrombocytopenia 1,"[thrombocytopenia, congenital, with radioulnar synostosis, Rusat]","Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by {1:Niihori et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia\n\nRadioulnar synostosis with amegakaryocytic thrombocytopenia-2 (RUSAT2; {616738}) is caused by heterozygous mutation in the MECOM gene ({165215}) on chromosome 3q26.",[605432],[71289],[Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome],[16687],,,,, +GARD:18069,Active,Orphanet+OMIM,OMIM:616738,Subtype of disorder,[Malformation syndrome subtype],Radioulnar synostosis with amegakaryocytic thrombocytopenia 2,,"Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by {1:Niihori et al., 2015}).\n\nFor a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 ({605432}).",[616738],[71289],[Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome],[16687],,,,, +GARD:1807,Active,Orphanet,ORPHA:99789,Subtype of disorder,[Clinical subtype],Dentin dysplasia type I,"[DD-I, DTDP1, Radicular dentin dysplasia]","Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.",,,,,,"Dentin dysplasia, type 1",TRUE,FALSE,Active +GARD:18070,Active,Orphanet+OMIM,OMIM:115210,Subtype of disorder,[Disease subtype],"Cardiomyopathy, familial restrictive, 1",[Rcm],"Restrictive cardiomyopathy (RCM) is a myocardial disease characterized by impaired ventricular filling and reduced diastolic volume in the presence of normal systolic function and normal or near-normal myocardial thickness. The disease is characterized by symptoms of progressive left- and right-sided heart failure. The overall prognosis is poor, especially when onset is in childhood, and patients often require cardiac transplantation ({9:Mogensen et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Familial Restrictive Cardiomyopathy\n\nOther forms of familial restrictive cardiomyopathy include RCM2 ({609578}), mapped to chromosome 10q23; RCM3 ({612422}), caused by mutation in the TNNT2 gene ({191045}) on chromosome 1q32; RCM4 (see {615248}), caused by mutation in the MYPN gene ({608517}) on chromosome 10q21; RCM5 (see {617047}), caused by mutation in the FLNC gene ({102565}) on chromosome 7q32; and RCM6 ({619433}), caused by mutation in the KIF20A gene ({605664}) on chromosome 5q31.",[115210],[75249],[Familial isolated restrictive cardiomyopathy],[16692],,,,, +GARD:18071,Active,Orphanet+OMIM,OMIM:609578,Subtype of disorder,[Disease subtype],"Cardiomyopathy, familial restrictive, 2",,"For a general phenotypic description and a discussion of genetic heterogeneity of familial restrictive cardiomyopathy, see {115210}.",[609578],[75249],[Familial isolated restrictive cardiomyopathy],[16692],,,,, +GARD:18072,Active,Orphanet+OMIM,OMIM:612422,Subtype of disorder,[Disease subtype],"Cardiomyopathy, familial restrictive, 3",,,[612422],[75249],[Familial isolated restrictive cardiomyopathy],[16692],,,,, +GARD:18073,Active,Orphanet+OMIM,OMIM:145250,Subtype of disorder,[Disease subtype],"Hyperpigmentation with or without hypopigmentation, familial progressive","[hyperpigmentation, familial progressive, 2, formerly, Melanosis universalis hereditaria]","Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by {11:Wang et al., 2009} and {1:Amyere et al., 2011}).\n\nAlso see familial progressive hyperpigmentation (FPH1; {614233}).",[145250],[79146],[Familial progressive hyperpigmentation],[16706],,,,, +GARD:18074,Active,Orphanet+OMIM,OMIM:614233,Subtype of disorder,[Disease subtype],"Hyperpigmentation, familial progressive, 1",,"Familial progressive hyperpigmentation (FPH) is a rare autosomal dominant disorder characterized by patches of hyperpigmentation in the skin, which are present at birth or in early infancy and increase in size and number with age (summary by {1:Zhang et al., 2006}).\n\nAlso see familial progressive hyperpigmentation with or without hypopigmentation (FPHH; {145250}).",[614233],[79146],[Familial progressive hyperpigmentation],[16706],,,,, +GARD:18075,Active,Orphanet+OMIM,OMIM:143470,Subtype of disorder,[Disease subtype],Hyperalphalipoproteinemia 1,"[Cholesterol ester transfer protein deficiency, cetp deficiency]",,[143470],[79506],[Cholesterol-ester transfer protein deficiency],[16724],,,,, +GARD:18076,Active,Orphanet+OMIM,OMIM:614028,Subtype of disorder,[Disease subtype],Apolipoprotein c-iii deficiency,[Hyperalphalipoproteinemia 2],,[614028],[79506],[Cholesterol-ester transfer protein deficiency],[16724],,,,, +GARD:18077,Active,Orphanet+OMIM,OMIM:603387,Subtype of disorder,[Malformation syndrome subtype],Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1,"[meg-pmg-megacc syndrome, Megalencephaly, polymicrogyria, mega corpus callosum syndrome, megalencephaly, mega corpus callosum, and complete lack of motor development]","This disorder comprises megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP; {602501}) (summary by {3:Gripp et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome\n\nSee also MPPH2 ({615937}), caused by mutation in the AKT3 gene ({611223}) on chromosome 1q43-q44; and MPPH3 ({615938}), caused by mutation in the CCND2 gene ({123833}) on chromosome 12p13.",[603387],[83473],[Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome],[10341],,,,, +GARD:18078,Active,Orphanet+OMIM,OMIM:615937,Subtype of disorder,[Malformation syndrome subtype],Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2,,"MPPH2 is an overgrowth syndrome comprising megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP; {602501}) (summary by {1:Gripp et al., 2009}).\n\nFor a discussion of genetic heterogeneity of MPPH, see {603387}.",[615937],[83473],[Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome],[10341],,,,, +GARD:18079,Active,Orphanet+OMIM,OMIM:615938,Subtype of disorder,[Malformation syndrome subtype],Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3,,"This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by {2:Mirzaa et al., 2014}).\n\nFor a discussion of genetic heterogeneity of MPPH, see MPPH1 ({603387}).",[615938],[83473],[Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome],[10341],,,,, +GARD:1808,Active,Orphanet,ORPHA:99792,Disorder,[Disease],Dentin dysplasia-sclerotic bones syndrome,,"Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.",[125440],,,,,Dentin dysplasia sclerotic bones,TRUE,FALSE,Active +GARD:18080,Active,Orphanet+OMIM,OMIM:613550,Subtype of disorder,[Disease subtype],Nephronophthisis 11,,,[613550],[84081],[Senior-Boichis syndrome],[16730],,,,, +GARD:18081,Active,Orphanet+OMIM,OMIM:616217,Subtype of disorder,[Disease subtype],Nephronophthisis 19,,,[616217],[84081],[Senior-Boichis syndrome],[16730],,,,, +GARD:18082,Active,Orphanet+OMIM,OMIM:601068,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 1","[Benign adult familial myoclonic epilepsy 1, cortical myoclonic tremor with epilepsy, familial, 1]","Familial cortical myoclonic tremor associated with epilepsy (FCMTE) is characterized by an autosomal dominant inheritance, adult-onset cortical myoclonus, and seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by {3:Depienne et al., 2010}). FAME1 tends to occur in patients of Japanese or Han Chinese descent (summary by {2:Cen et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Familial Adult Myoclonic Epilepsy\n\nSee also FAME2 ({607876}), caused by mutation in the STARD7 gene ({616712}) on chromosome 2q11; FAME3 ({613608}), caused by mutation in the MARCHF6 gene ({613297}) on chromosome 5p15; FAME4 ({615127}), which maps to chromosome 3q26.32-q28; FAME5 ({615400}), caused by mutation in the CNTN2 gene ({190197}) on chromosome 1q32; FAME6 ({618074}), caused by mutation in the TNRC6A gene ({610739}) on chromosome 16p12; and FAME7 ({618075}), caused by mutation in the RAPGEF2 gene ({609530}) on chromosome 4.\n\nProgressive myoclonic epilepsy is a more severe disorder (see, e.g., EPM1, {254800}).",[601068],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18083,Active,Orphanet+OMIM,OMIM:607876,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 2","[cortical myoclonus and epilepsy, autosomal dominant, Benign adult familial myoclonic epilepsy 2, cortical myoclonic tremor with epilepsy, familial, 2]","Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by {4:De Fusco et al., 2014}; {2:Crompton et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 ({601068}).",[607876],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18084,Active,Orphanet+OMIM,OMIM:613608,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 3","[Cortical myoclonic tremor with epilepsy, familial, 3]","Familial adult myoclonic epilepsy-3 (FAME3) is an autosomal dominant neurologic disorder characterized by onset of cortical tremor, mainly affecting the hands and voice, between 10 and 40 years of age, with adult onset being more common. Most affected individuals develop epilepsy with generalized tonic-clonic seizures; some may have partial or absence seizures. The disorder is nonprogressive or slowly progressive, and most patients respond to antiseizure medication (summary by {2:Florian et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 ({601068}).",[613608],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18085,Active,Orphanet+OMIM,OMIM:615127,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 4","[Cortical myoclonic tremor with epilepsy, familial, 4]",,[615127],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18086,Active,Orphanet+OMIM,OMIM:615400,Subtype of disorder,[Disease subtype],"Epilepsy, familial adult myoclonic, 5","[Cortical myoclonic tremor with epilepsy, familial, 5]","Familial adult myoclonic epilepsy-5 is an autosomal recessive neurologic disorder characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Some patients may also have neuropsychiatric abnormalities (summary by {1:Stogmann et al., 2013}).",[615400],[86814],[Benign adult familial myoclonic epilepsy],[16758],,,,, +GARD:18087,Active,Orphanet+OMIM,OMIM:607694,Subtype of disorder,[Clinical subtype],"Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism","[Leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition, ataxia, delayed dentition, and hypomyelination, 4h leukodystrophy 1, leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism, 4h syndrome]","Hypomyelinating leukodystrophy-7 is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability (summary by {2:Bernard et al., 2011}).\n\nSee also HLD8 ({614381}), which has similar features and is caused by mutation in the POLR3B gene ({614366}) on chromosome 12q23. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.",[607694],[88637],[Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome],[16771],,,,, +GARD:18088,Active,Orphanet+OMIM,OMIM:616494,Subtype of disorder,[Clinical subtype],"Leukodystrophy, hypomyelinating, 11",[4h leukodystrophy 3],"Hypomyelinating leukodystrophy-11 (HLD11) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by {2:Thiffault et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.",[616494],[88637],[Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome],[16771],,,,, +GARD:18089,Active,Orphanet+OMIM,OMIM:618660,Subtype of disorder,[Disease subtype],Hemolytic anemia due to glutathione reductase deficiency,,,[618660],[90030],[Hemolytic anemia due to glutathione reductase deficiency],[16784],,,,, +GARD:18090,Active,Orphanet+OMIM,OMIM:618667,Subtype of disorder,[Disease subtype],"Hydrocephalus, congenital communicating, 1",,,[618667],[90030],[Hemolytic anemia due to glutathione reductase deficiency],[16784],,,,, +GARD:18091,Active,Orphanet+OMIM,OMIM:601152,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary motor and sensory, type via, with optic atrophy","[neuropathy, hereditary motor and sensory, type vi, charcot-marie-tooth disease, type 6a, charcot-marie-tooth disease, type 6, Hmsn via, peripheral neuropathy and optic atrophy]","Hereditary motor and sensory neuropathy type VI is an autosomal dominant neurologic disorder characterized by peripheral neuropathy and optic atrophy (summary by {12:Voo et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VI\n\nSee also HMSN6B ({616505}), caused by mutation in the SLC25A46 gene ({610826}) on chromosome 5q22, and HMSN6C ({618511}), caused by mutation in the PDXK gene ({179020}) on chromosome 21q22.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CMT, see CMT1B ({118200}).",[601152],[90120],[Hereditary motor and sensory neuropathy type 6],[16787],,,,, +GARD:18092,Active,Orphanet+OMIM,OMIM:616505,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary motor and sensory, type vib, with optic atrophy","[charcot-marie-tooth disease, type 6b, Hmsn vib]","Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals may also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements such as ataxia, dysmetria, and myoclonus (summary by {1:Abrams et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A ({601152}).",[616505],[90120],[Hereditary motor and sensory neuropathy type 6],[16787],,,,, +GARD:18093,Active,Orphanet+OMIM,OMIM:146520,Subtype of disorder,[Disease subtype],Hypotrichosis 2,"[hypotrichosis, spanish type, Hypotrichosis simplex of the scalp 1, htss]","Hypotrichosis simplex can affect all body hair or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by {1:Betz et al., 2000}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.",[146520],[90368],[Hypotrichosis simplex of the scalp],[16789],,,,, +GARD:18094,Active,Orphanet+OMIM,OMIM:613981,Subtype of disorder,[Disease subtype],Hypotrichosis 3,[Hypotrichosis simplex of the scalp 2],"Hypotrichosis simplex can affect all body hair (generalized; see {605389}) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by {1:Betz et al., 2000}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 ({605389}).",[613981],[90368],[Hypotrichosis simplex of the scalp],[16789],,,,, +GARD:18095,Active,Orphanet+OMIM,OMIM:300030,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 3",,,[300030],[90625],[X-linked non-syndromic sensorineural deafness type DFN],[16790],,,,, +GARD:18096,Active,Orphanet+OMIM,OMIM:300066,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 4","[Deafness, x-linked 6, progressive, deafness, nonsyndromic sensorineural progressive 6]","X-linked deafness-4 is a nonsyndromic form of progressive hearing loss with postlingual onset. Affected males show earlier onset of hearing loss than affected females (summary by {2:del Castillo et al., 1996}).",[300066],[90625],[X-linked non-syndromic sensorineural deafness type DFN],[16790],,,,, +GARD:18097,Active,Orphanet+OMIM,OMIM:300914,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 6",,,[300914],[90625],[X-linked non-syndromic sensorineural deafness type DFN],[16790],,,,, +GARD:18098,Active,Orphanet+OMIM,OMIM:304500,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 1","[Deafness, x-linked 2, sensorineural congenital]",,[304500],[90625],[X-linked non-syndromic sensorineural deafness type DFN],[16790],,,,, +GARD:18099,Active,Orphanet+OMIM,OMIM:600101,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 2a",,,[600101],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:181,Active,Orphanet,ORPHA:827,Disorder,[Disease],Stargardt disease,"[Fundus flavimaculatus, Stargardt 1]","A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.","[603786, 600110, 248200]",,,,,Stargardt disease,TRUE,FALSE,Active +GARD:1810,Active,Orphanet,ORPHA:3270,Disorder,[Malformation syndrome],Radioulnar synostosis-developmental delay-hypotonia syndrome,[Der Kaloustian-McIntosh-Silver syndrome],"Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).",[266255],,,,,Radioulnar synostosis-developmental delay-hypotonia syndrome,TRUE,FALSE,Active +GARD:18100,Active,Orphanet+OMIM,OMIM:600652,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 4a","[Deafness, autosomal dominant 4]",,[600652],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18101,Active,Orphanet+OMIM,OMIM:600965,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 6","[Deafness, autosomal dominant 14, deafness, autosomal dominant 38]","Low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high frequency hearing is generally preserved, LFSNHL patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high frequency loss later in life. LFSNHL worsens over time without progressing to profound deafness; in contrast, low frequency hearing loss linked to DFNA1 ({124900}), caused by mutations in the DIAPH1 gene ({602121}), is associated with progression to profound deafness by the fourth decade of life (summary by {1:Bespalova et al., 2001}).",[600965],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18102,Active,Orphanet+OMIM,OMIM:600994,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 5",,,[600994],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18103,Active,Orphanet+OMIM,OMIM:601316,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 10",,,[601316],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18104,Active,Orphanet+OMIM,OMIM:601317,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 11",,"Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by {3:Sun et al., 2011}).",[601317],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18105,Active,Orphanet+OMIM,OMIM:601369,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 9",,"DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable vestibular dysfunction (summary by {9:Robertson et al., 2006}).",[601369],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18106,Active,Orphanet+OMIM,OMIM:601412,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 7",,"Autosomal dominant deafness-7 (DFNA7) is a form of progressive sensorineural hearing loss with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood. Some patients may have associated vertigo (summary by {5:Wesdorp et al., 2018}).",[601412],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18107,Active,Orphanet+OMIM,OMIM:601543,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 12","[Deafness, autosomal dominant 8]",,[601543],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18108,Active,Orphanet+OMIM,OMIM:601868,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 13",,,[601868],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18109,Active,Orphanet+OMIM,OMIM:602459,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 15",,"Autosomal dominant deafness-15 is a form of progressive nonsyndromic sensorineural hearing loss with postlingual onset between the second and sixth decades of life (summary by {3:Kim et al., 2013}).",[602459],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18110,Active,Orphanet+OMIM,OMIM:603964,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 16",,,[603964],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18111,Active,Orphanet+OMIM,OMIM:604717,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 20",[Dfna26],,[604717],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18112,Active,Orphanet+OMIM,OMIM:605583,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 25",,,[605583],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18113,Active,Orphanet+OMIM,OMIM:606012,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 18",,,[606012],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18114,Active,Orphanet+OMIM,OMIM:606451,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 30",,,[606451],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18115,Active,Orphanet+OMIM,OMIM:606705,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 36",,,[606705],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18116,Active,Orphanet+OMIM,OMIM:607017,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 21",,"Autosomal dominant deafness-21 (DFNA21) is characterized by nonsyndromic progressive sensorineural hearing loss. The mean age at onset is 30.6 years, with a range from infancy to late adulthood. There is a high prevalence of this genetic form of deafness in the Dutch population (summary by {3:de Bruijn et al., 2021}).",[607017],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18117,Active,Orphanet+OMIM,OMIM:607197,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive",,"{2:Liu et al. (2001)} screened 26 African American probands with congenital deafness (21 from simplex and 5 from multiplex families) for mutations in connexins 26, 30, and 31 and found no mutations. The affected individuals exhibited profound bilateral congenital deafness. Individuals demonstrated audiograms consistent with sensorineural deafness, the most common pattern in nonsyndromic recessive deafness ({1:Liu and Xu, 1994}), and did not exhibit any craniofacial abnormalities or history of vestibular dysfunction. Although {2:Liu et al. (2001)} reported that they had identified 2 homozygous mutations (leu11 to phe and val24 to ala) in the connexin-43 gene (GJA1; {121014}) in 4 of the 26 African American probands, {3:Paznekas et al. (2003)} cited a personal communication from the senior author of the report by {2:Liu et al. (2001)} stating that the 2 mutations had been found to involve the pseudogene of connexin-43 located on chromosome 5.",[607197],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18118,Active,Orphanet+OMIM,OMIM:607453,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 44",,,[607453],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18119,Active,Orphanet+OMIM,OMIM:607683,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 52",,,[607683],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:1812,Legacy,GARD,,,,,,,,,,,,Dermatocardioskeletal syndrome Boronne type,TRUE,FALSE,Active +GARD:18120,Active,Orphanet+OMIM,OMIM:607841,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 48",,,[607841],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18121,Active,Orphanet+OMIM,OMIM:608224,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 41",,"Autosomal dominant deafness-41 (DFNA41) is characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies (summary by {4:Yan et al., 2013}).",[608224],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18122,Active,Orphanet+OMIM,OMIM:608372,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 49",,,[608372],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18123,Active,Orphanet+OMIM,OMIM:608394,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 43",,,[608394],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18124,Active,Orphanet+OMIM,OMIM:608641,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 28",,,[608641],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18125,Active,Orphanet+OMIM,OMIM:608645,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 31",,,[608645],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18126,Active,Orphanet+OMIM,OMIM:608652,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 47",,,[608652],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18127,Active,Orphanet+OMIM,OMIM:609129,Subtype of disorder,[Etiological subtype],"Auditory neuropathy, autosomal dominant 1","[Auditory neuropathy, nonsyndromic dominant]","Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease ({4:Satya-Murti et al., 1979}) and has been observed in Friedreich ataxia ({3:Satya-Murti et al., 1980}). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, {601071}.\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Auditory Neuropathy\n\nSee also AUNA3 ({619832}), caused by mutation in the TMEM43 gene ({612048}) on chromosome 3p25.",[609129],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18128,Active,Orphanet+OMIM,OMIM:612431,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 27",,"DFNA27 is characterized by postlingual progressive moderate to profound sensorineural hearing loss ({3:Peters et al., 2008}).",[612431],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18129,Active,Orphanet+OMIM,OMIM:612642,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 59",,,[612642],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:1813,Active,Orphanet,ORPHA:1659,Disorder,[Disease],Dermatoleukodystrophy,[Cutis laxa-leukodystrophy],"A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths.",[221790],,,,,Dermatoleukodystrophy,TRUE,FALSE,Active +GARD:18130,Active,Orphanet+OMIM,OMIM:612643,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 3b",,,[612643],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18131,Active,Orphanet+OMIM,OMIM:612644,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 2b",,,[612644],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18132,Active,Orphanet+OMIM,OMIM:613074,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 50",,"Autosomal dominant deafness-50 is a form of nonsyndromic hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by {1:Mencia et al., 2009}).",[613074],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18133,Active,Orphanet+OMIM,OMIM:613558,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 51",,,[613558],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18134,Active,Orphanet+OMIM,OMIM:614152,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 64",,,[614152],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18135,Active,Orphanet+OMIM,OMIM:614211,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 33",,,[614211],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18136,Active,Orphanet+OMIM,OMIM:614614,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 4b",,"Autosomal dominant deafness-4B is a form of nonsyndromic progressive sensorineural hearing loss with postlingual onset (summary by {2:Wang et al., 2015})",[614614],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18137,Active,Orphanet+OMIM,OMIM:615629,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 56",,"Autosomal dominant deafness-56 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by {1:Zhao et al., 2013}).",[615629],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18138,Active,Orphanet+OMIM,OMIM:615649,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 54",,,[615649],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18139,Active,Orphanet+OMIM,OMIM:615654,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 58",,,[615654],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:1814,Active,Orphanet,ORPHA:1657,Disorder,[Malformation syndrome],"Dermatoosteolysis, Kirghizian type",,"A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983.",[221810],,,,,Dermatoosteolysis Kirghizian type,TRUE,FALSE,Active +GARD:18140,Active,Orphanet+OMIM,OMIM:616044,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 65",,"Autosomal dominant deafness-65 is characterized by postlingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal ({2:Zhang et al., 2014}).",[616044],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18141,Active,Orphanet+OMIM,OMIM:616340,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 67",,"DFNA67 is a form of nonsyndromic sensorineural hearing loss. Onset ranges from the first to the fourth year of life. Hearing loss initially affects high frequencies, with variable progression. There are no vestibular symptoms ({2:Xing et al., 2015}; {1:Thoenes et al., 2015}).",[616340],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18142,Active,Orphanet+OMIM,OMIM:616357,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 40",,,[616357],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18143,Active,Orphanet+OMIM,OMIM:616697,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 69","[Deafness, congenital, unilateral or asymmetric]",,[616697],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18144,Active,Orphanet+OMIM,OMIM:616707,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 68",,,[616707],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18145,Active,Orphanet+OMIM,OMIM:616968,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 70",,"Autosomal dominant deafness-70 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is slowly progressive ({1:Gao et al., 2015}).",[616968],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18146,Active,Orphanet+OMIM,OMIM:616969,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 66",,"Autosomal dominant deafness-66 is a form of nonsyndromic sensorineural hearing impairment with widely variable age at onset ({1:Nyegaard et al., 2015}).",[616969],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18147,Active,Orphanet+OMIM,OMIM:617605,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 71",,,[617605],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18148,Active,Orphanet+OMIM,OMIM:617606,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 72",,,[617606],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18149,Active,Orphanet+OMIM,OMIM:617663,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 73",,,[617663],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:1815,Active,Orphanet,ORPHA:79149,Disorder,[Disease],Dermochondrocorneal dystrophy,[François syndrome],"Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.",[221800],,,,,Dermochondrocorneal dystrophy of François,TRUE,FALSE,Active +GARD:18150,Active,Orphanet+OMIM,OMIM:618094,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 110",,,[618094],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18151,Active,Orphanet+OMIM,OMIM:618140,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 74",,"Autosomal dominant deafness-74 (DFNA74) is characterized by nonsyndromic postlingual progressive hearing loss, with onset in the third decade of life in most affected individuals ({1:Wang et al., 2018}).",[618140],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18152,Active,Orphanet+OMIM,OMIM:618410,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 113",,"DFNB113 is characterized by postlingual progressive hearing impairment ({1:Booth et al., 2018}).",[618410],"[90635, 90636]","[Autosomal dominant non-syndromic sensorineural deafness type DFNA, Autosomal recessive non-syndromic sensorineural deafness type DFNB]","[18644, 16791]",,,,, +GARD:18153,Active,Orphanet+OMIM,OMIM:618778,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 75",,"DFNA75 is characterized by adult onset of moderate to severe, mid to high frequency hearing loss, progressing to involvement of all frequencies ({2:Xia et al., 2019}).",[618778],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18154,Active,Orphanet+OMIM,OMIM:618787,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 76",,"Autosomal dominant deafness-76 (DFNA76) is characterized by progressive or nonprogressive hearing loss with variable age at onset. Hearing loss is more severe at higher frequencies in most patients ({3:Schrauwen et al., 2019}; {2:Morgan et al., 2019}; {1:Diaz-Horta et al., 2019}).",[618787],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18155,Active,Orphanet+OMIM,OMIM:618915,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 77",,"Autosomal dominant deafness-77 (DFNA77) is characterized by progressive hearing loss affecting high frequencies beginning in the second to third decades of life and affecting all frequencies by the fourth or fifth decades ({1:Li et al., 2019}).",[618915],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18156,Active,Orphanet+OMIM,OMIM:619081,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 78",,"Autosomal dominant deafness-78 (DFNA78) is characterized by profound congenital bilateral sensorineural hearing loss affecting all frequencies. Some patients may have mild motor delay early in life due to vestibular dysfunction, although the motor skills catch up with age. Affected individuals do not have systemic or other neurologic manifestations (summary by {3:Mutai et al., 2020}).",[619081],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18157,Active,Orphanet+OMIM,OMIM:619086,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 79",,"Autosomal dominant deafness-79 (DFNA79) is a nonsyndromic form of progressive sensorineural hearing loss with age of onset ranging from 20 years to 65 years. Affected females appear to have milder hearing loss than males ({1:Lu et al., 2020}).",[619086],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18158,Active,Orphanet+OMIM,OMIM:619274,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 80",,"DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves ({1:Schrauwen et al., 2018}; {2:Schrauwen et al., 2020}).",[619274],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,,,, +GARD:18159,Active,Orphanet+OMIM,OMIM:221745,Subtype of disorder,[Etiological subtype],"Deafness, sensorineural, autosomal-mitochondrial type",,,[221745],[90641],[Mitochondrial non-syndromic sensorineural deafness],[16792],,,,, +GARD:1816,Active,Orphanet,ORPHA:1660,Disorder,[Malformation syndrome],Dermoodontodysplasia,,"A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990.",[125640],,,,,Dermoodontodysplasia,TRUE,FALSE,Active +GARD:18160,Active,Orphanet+OMIM,OMIM:500008,Subtype of disorder,[Etiological subtype],"Deafness, nonsyndromic sensorineural, mitochondrial",,"Mutations in mitochondrial DNA (mtDNA) have been found to be associated with nonsyndromic sensorineural hearing loss. Matrilineal relatives within and among families carrying certain pathogenic mitochondrial mutations exhibit a wide range of penetrance, severity, and age of onset of hearing loss, indicating that the mitochondrial mutations by themselves are not sufficient to produce a deafness phenotype. Modifier factors, such as nuclear and mitochondrial genes, or environmental factors, such as exposure to aminoglycosides, appear to modulate the phenotypic manifestations (summary by {10:Tang et al., 2007}).",[500008],[90641],[Mitochondrial non-syndromic sensorineural deafness],[16792],,,,, +GARD:18161,Active,Orphanet+OMIM,OMIM:580000,Subtype of disorder,[Etiological subtype],"Deafness, aminoglycoside-induced","[streptomycin ototoxicity, Deafness, streptomycin-induced]","The mechanism of ototoxicity of aminoglycosides is thought to be interference with the production of ATP in the mitochondria of hair cells in the cochlea ({1:Akiyoshoi et al., 1976}). The aminoglycosides include kanamycin, gentamicin, tobramycin, and neomycin in addition to streptomycin.",[580000],[90641],[Mitochondrial non-syndromic sensorineural deafness],[16792],,,,, +GARD:18162,Active,Orphanet+OMIM,OMIM:178300,Subtype of disorder,[Disease subtype],"Ptosis, hereditary congenital 1",,Hereditary congenital ptosis occurs in 3 main forms: simple; with external ophthalmoplegia; and with blepharophimosis.\n\nSee PTOS2 ({300245}) for description of an X-linked form of congenital bilateral isolated ptosis.,[178300],[91411],[Congenital ptosis],[16798],,,,, +GARD:18163,Active,Orphanet+OMIM,OMIM:300245,Subtype of disorder,[Disease subtype],"Ptosis, hereditary congenital 2",,See PTOS1 ({178300}) for a form of ptosis that has been linked to chromosome 1p.,[300245],[91411],[Congenital ptosis],[16798],,,,, +GARD:18164,Active,Orphanet+OMIM,OMIM:616219,Subtype of disorder,[Disease subtype],"Fibrosis of extraocular muscles, congenital, 5",,,[616219],[91411],[Congenital ptosis],[16798],,,,, +GARD:18165,Active,Orphanet+OMIM,OMIM:103420,Subtype of disorder,[Disease subtype],"Alacrima, congenital, autosomal dominant","[Alacrimia congenita, autosomal dominant]",,[103420],[91416],[Isolated congenital alacrima],[16799],,,,, +GARD:18166,Active,Orphanet+OMIM,OMIM:601549,Subtype of disorder,[Disease subtype],"Alacrima, congenital, autosomal recessive",,,[601549],[91416],[Isolated congenital alacrima],[16799],,,,, +GARD:18167,Active,Orphanet+OMIM,OMIM:221900,Subtype of disorder,[Disease subtype],"Persistent hyperplastic primary vitreous, autosomal recessive","[Retinal nonattachment, nonsyndromic congenital, retinal nonattachment and falciform detachment, persistent fetal vasculature]","Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see {5:Haddad et al., 1978}; {7:Khaliq et al., 2001}; {15:Prasov et al., 2012}).\n\nPHPV shares phenotypic overlap with Norrie disease ({310600}).\n\n<Subhead> Genetic Heterogeneity of Persistent Hyperplastic Primary Vitreous\n\nA dominant form of PHPV has been described (PHPVAD; {611308}).",[221900],[91495],[Persistent hyperplastic primary vitreous],[16803],,,,, +GARD:18168,Active,Orphanet+OMIM,OMIM:611308,Subtype of disorder,[Disease subtype],"Persistent hyperplastic primary vitreous, autosomal dominant",,"Persistent hyperplastic primary vitreous (PHPV) is a developmental malformation of the eye due to the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmos, cataract, and glaucoma ({2:Haddad et al., 1978}).\n\nFor a discussion of genetic heterogeneity of PHPV, see {221900}.",[611308],[91495],[Persistent hyperplastic primary vitreous],[16803],,,,, +GARD:18169,Active,Orphanet+OMIM,OMIM:277440,Subtype of disorder,[Disease subtype],"Vitamin d-dependent rickets, type 2a","[Vitamin d-dependent rickets, type 2a, with or without alopecia, rickets-alopecia syndrome, pddr iia, generalized resistance to 1,25-dihydroxyvitamin d, pseudovitamin d-deficiency, type iia, hypocalcemic vitamin d-resistant rickets, vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol, rickets, hereditary vitamin d-resistant]","Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.\n\nVDDR2B ({600785}) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; {264700}).",[277440],[93160],[Hypocalcemic vitamin D-resistant rickets],[16805],,,,, +GARD:18170,Active,Orphanet+OMIM,OMIM:600785,Subtype of disorder,[Disease subtype],"Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor",,"Vitamin D-dependent rickets type 2B with normal vitamin D receptor (VDDR2B) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.\n\nVitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the vitamin D receptor gene (VDR; {601769}), and most patients have alopecia in addition to rickets.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; {264700}).",[600785],[93160],[Hypocalcemic vitamin D-resistant rickets],[16805],,,,, +GARD:18171,Active,Orphanet+OMIM,OMIM:619073,Subtype of disorder,[Disease subtype],"Vitamin d-dependent rickets, type 3",,"Vitamin D-dependent rickets-3 (VDDR3) is characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to the parent molecule as well as activated forms of vitamin D ({1:Roizen et al., 2018}).\n\nFor discussion of genetic heterogeneity of vitamin D-dependent rickets, see {264700}.",[619073],[93160],[Hypocalcemic vitamin D-resistant rickets],[16805],,,,, +GARD:18172,Active,Orphanet+OMIM,OMIM:263450,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a5",,"For a general phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly (PAP), see PAPA1 ({174200}).",[263450],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18173,Active,Orphanet+OMIM,OMIM:602085,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a2",,"For a phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[602085],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18174,Active,Orphanet+OMIM,OMIM:607324,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a3",,"For a phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[607324],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18175,Active,Orphanet+OMIM,OMIM:608562,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a4",,"For a phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.\n\n{1:Galjaard et al. (2003)} described an autosomal dominant postaxial polydactyly and partial cutaneous syndactyly syndrome in a 31-member, 6-generation Dutch kindred with 11 affected individuals. Although the PAPA phenotype predominated, the expression of the polydactyly and syndactyly phenotypes was variable with respect to involvement of upper/lower limbs, right/left sides, PAPA and/or PAPB phenotype expression, interdigital space (IDS), and extent of syndactyly, especially in 2 branches of the family. No other associated anomalies were observed. {1:Galjaard et al. (2003)} performed a whole-genome screen in this family and detected positive lod scores for markers on chromosome 7q, with a maximum 2-point lod score of 3.18 at theta = 0 with D7S1799. Individuals with PAPA/B and one with partial cutaneous syndactyly of IDS2 shared a common haplotype between markers D7S1799 and D7S495 (50 cM). They also shared a haplotype between GATA63F08 and D7S2513 (3.7 cM) with 2 clinically normal individuals and a patient with only syndactyly. {1:Galjaard et al. (2003)} concluded that PAP and syndactyly in this family are genetically heterogeneous with high penetrance, the only nonpenetrant individual being the patient with the PAPB-only phenotype.",[608562],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18176,Active,Orphanet+OMIM,OMIM:615226,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a6",,,[615226],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18177,Active,Orphanet+OMIM,OMIM:618219,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a9",,"Postaxial polydactyly type A9 is characterized by one or more posterior or postaxial digits. There is intrafamilial and intraindividual variability ({1:Schrauwen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[618219],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18178,Active,Orphanet+OMIM,OMIM:618498,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a10",,"Postaxial polydactyly type A10 (PAPA10) is characterized by one or more postaxial digits of the hands and/or feet. A rudimentary digit (PAP type B) may also be present. Intrafamilial variability has been observed ({1:Ullah et al., 2019}).\n\nFor a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.",[618498],[93334],[Postaxial polydactyly type A],[16817],,,,, +GARD:18179,Active,Orphanet+OMIM,OMIM:604387,Subtype of disorder,[Clinical subtype],Nephronophthisis 3,[Nph3],,[604387],[93589],[Late-onset nephronophthisis],[16824],,,,, +GARD:1818,Active,Orphanet,ORPHA:1425,Disorder,[Malformation syndrome],Desbuquois syndrome,"[DBQD, Desbuquois dysplasia]","Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.","[615777, 251450]",,,,,Desbuquois syndrome,TRUE,FALSE,Active +GARD:18180,Active,Orphanet+OMIM,OMIM:613159,Subtype of disorder,[Clinical subtype],Nephronophthisis-like nephropathy 1,,"Nephronophthisis-like nephropathy-1 (NPHPL1) is an autosomal recessive cystic kidney disease characterized by the onset of progressive renal insufficiency in childhood. End-stage renal disease occurs in the first 3 decades of life. The disorder may be associated with extrarenal manifestations, including hepatic and central nervous system involvement (summary by {2:O'Toole et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 ({256100}).",[613159],[93589],[Late-onset nephronophthisis],[16824],,,,, +GARD:18181,Active,Orphanet+OMIM,OMIM:617271,Subtype of disorder,[Clinical subtype],Nephronophthisis 20,,"Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by {1:Macia et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 ({256100}).",[617271],[93589],[Late-onset nephronophthisis],[16824],,,,, +GARD:18182,Active,Orphanet+OMIM,OMIM:602088,Subtype of disorder,[Clinical subtype],Nephronophthisis 2,[Nph2],,[602088],[93591],[Infantile nephronophthisis],[16825],,,,, +GARD:18183,Active,Orphanet+OMIM,OMIM:615382,Subtype of disorder,[Clinical subtype],Nephronophthisis 16,,,[615382],"[93591, 93592]","[Infantile nephronophthisis, Juvenile nephronophthisis]","[16825, 18645]",,,,, +GARD:18184,Active,Orphanet+OMIM,OMIM:146450,Subtype of disorder,[Morphological anomaly subtype],"Hypospadias 3, autosomal",,"For a phenotypic description and a discussion of genetic heterogeneity of hypospadias, see {300633}.",[146450],[95706],[Non-syndromic posterior hypospadias],[16840],,,,, +GARD:18185,Active,Orphanet+OMIM,OMIM:300633,Subtype of disorder,[Morphological anomaly subtype],"Hypospadias 1, x-linked",,"Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe. Due to developmental arrest of urethral fusion, the urethral opening is displaced along the ventral side of the penis. The opening can be located glanular, penile, or even more posterior in the scrotum or perineum. Although most children with this condition undergo surgery in their second year of life, serious medical, social, and sexual problems may still exist later in life (summary by {8:van der Zanden et al., 2011}). Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome ({300068}) and Opitz syndrome ({300000}).\n\n<Subhead> Genetic Heterogeneity of Hypospadias\n\nSee also HYSP2 ({300758}), caused by mutation in the MAMLD1 gene ({300120}) on chromosome Xq28; HYSP3 ({146450}), a familial form which has been mapped to chromosome 7q32.2-q36.1; and HYSP4 ({300856}), a susceptibility locus mapped to chromosome Xp11.22 and associated with variation in the DGKK gene ({300837}).",[300633],[95706],[Non-syndromic posterior hypospadias],[16840],,,,, +GARD:18186,Active,Orphanet+OMIM,OMIM:300758,Subtype of disorder,[Morphological anomaly subtype],"Hypospadias 2, x-linked",,,[300758],[95706],[Non-syndromic posterior hypospadias],[16840],,,,, +GARD:18187,Active,Orphanet+OMIM,OMIM:300856,Subtype of disorder,[Morphological anomaly subtype],"Hypospadias 4, x-linked, susceptibility to",,"For a phenotypic description and a discussion of genetic heterogeneity of hypospadias, see HYSP1 ({300633}).",[300856],[95706],[Non-syndromic posterior hypospadias],[16840],,,,, +GARD:18188,Active,Orphanet+OMIM,OMIM:274400,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 1,"[hypothyroidism, congenital, due to dyshormonogenesis, 1, iodine accumulation, transport, or trapping defect, Thyroid hormonogenesis, genetic defect in, 1]","Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes ({11:Vono-Toniolo et al., 2005}). Dyshormonogenesis can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH; see {188540}) stimulation.\n\n{7:Park and Chatterjee (2005)} reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder.\n\n<Subhead> Genetic Heterogeneity of Thyroid Dyshormonogenesis\n\nOther forms of thyroid hormone dysgenesis include TDH2A ({274500}), caused by mutation in the thyroid peroxidase gene (TPO; {606765}) on 2p25; Pendred syndrome, a form of thyroid hormone dysgenesis associated with deafness (TDH2B; {274600}) and caused by mutation in the SLC26A4 gene ({605646}) on 7q31; TDH3 ({274700}), caused by mutation in the thyroglobulin gene (TG; {188450}) on 8q24; TDH4 ({274800}), caused by mutation in the iodotyrosine deiodinase gene (IYD; {612025}) on 6q25; TDH5 ({274900}), caused by mutation in the DUOXA2 gene ({612772}) on 15q21; and TDH6 ({607200}), caused by mutation in the DUOX2 gene ({606759}) on 15q21.",[274400],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18189,Active,Orphanet+OMIM,OMIM:274500,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 2a,"[Thyroid hormonogenesis, genetic defect in, 2a, hypothyroidism, congenital, due to dyshormonogenesis, 2a, iodide peroxidase deficiency, thyroid peroxidase deficiency]","Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes ({29:Vono-Toniolo et al., 2005}). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency ({22:Park and Chatterjee, 2005}). Defects in TPO cause a severe form of congenital hypothyroidism characterized by a complete and immediate release of accumulated radioiodide from the thyroid after sodium perchlorate administration ({4:Bakker et al., 2000}). This release of radioiodide represents total iodine organification defect (TIOD), a disruption of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide and bound to tyrosine residues in thyroglobulin (TG; {188450}) to form iodotyrosine.",[274500],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18190,Active,Orphanet+OMIM,OMIM:274700,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 3,"[hypothyroidism, congenital, due to dyshormonogenesis, 3, Thyroid hormonogenesis, genetic defect in, 3]","{10:Kanou et al. (2007)} reviewed characteristics of thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. This form of thyroid dyshormonogenesis has an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive manner, the disorder in the majority of patients causes large goiters of elastic and soft consistency. Although the degree of thyroid dysfunction varies considerably among patients with defective TG synthesis, patients usually have a relatively high serum free T3 concentration with disproportionately low free T4 level. The maintenance of relatively high FT3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.",[274700],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18191,Active,Orphanet+OMIM,OMIM:274800,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 4,"[iodotyrosine dehalogenase deficiency, deiodinase deficiency, Thyroid hormonogenesis, genetic defect in, 4, hypothyroidism, congenital, due to dyshormonogenesis, 4]",,[274800],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18192,Active,Orphanet+OMIM,OMIM:274900,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 5,"[Thyroid hormonogenesis, genetic defect in, 5, hypothyroidism, congenital, due to dyshormonogenesis, 5]",,[274900],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18193,Active,Orphanet+OMIM,OMIM:607200,Subtype of disorder,[Disease subtype],Thyroid dyshormonogenesis 6,"[Thyroid hormonogenesis, genetic defect in, 6, hypothyroidism, congenital, due to dyshormonogenesis, 6]",,[607200],[95716],[Familial thyroid dyshormonogenesis],[16843],,,,, +GARD:18194,Active,Orphanet+OMIM,OMIM:619126,Disorder,[Disease],Immunodeficiency 75,,"Immunodeficiency-75 (IMD75) is an autosomal recessive immunologic disorder characterized by immunodeficiency, immune dysregulation, and the development of lymphoproliferative disorders, including lymphoma. Affected individuals usually present in infancy with severe and recurrent infections, mainly viral and affecting the respiratory tract. Some patients may have autoimmune cytopenias, anemia, or thrombocytopenia. Patients also develop hepatosplenomegaly, lymphadenopathy, lymphoproliferative disorders, and various types of T- or B-cell lymphomas. Immunologic work-up shows decreased class-switched B cells, impaired B-cell terminal differentiation, and hypo- or hypergammaglobulinemia. There is skewed differentiation and dysregulation of T cells, as well as possibly disrupted hematopoiesis. Additional features include failure to thrive and global developmental delay. The phenotype may be reminiscent of ALPS ({601859}), including laboratory evidence of impaired Fas-dependent T-cell apoptosis. Although hematopoietic stem cell transplantation may be effective treatment, many patients die in childhood (summary by {2:Stremenova Spegarova et al., 2020}).",[619126],[98291],[Lymphoproliferative disease associated with primary immune disease],[16855],,,,, +GARD:18195,Active,Orphanet+OMIM,OMIM:277450,Subtype of disorder,[Disease subtype],"Vitamin k-dependent clotting factors, combined deficiency of, 1","[multiple coagulation factor deficiency iii, fmfd iii, factors ii, vii, ix, and x, combined deficiency of, familial multiple coagulation factor deficiency iii, glutamic acid, deficient gamma-carboxylation of, Vkcfd, vitamin k-dependent coagulation defect]","Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome. The pathomechanism is based on a reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors, as well as the anticoagulant factors protein C ({612283}) and protein S ({176880}). Posttranslational gamma-carboxylation of proteins enables the calcium-dependent attachment of the proteins to the phospholipid bilayer of membranes, an essential prerequisite for blood coagulation. Vitamin K1 acts as a cofactor for the vitamin K-dependent carboxylase in liver microsomes, GGCX.\n\n<Subhead> Genetic Heterogeneity of Combined Deficiency of Vitamin K-Dependent Clotting Factors\n\nCombined deficiency of vitamin K-dependent clotting factors-2 (VKFCD2; {607473}) is caused by mutation in the gene encoding vitamin K epoxide reductase (VKORC1; {608547}) on chromosome 16p11.",[277450],[98434],[Hereditary combined deficiency of vitamin K-dependent clotting factors],[16856],,,,, +GARD:18196,Active,Orphanet+OMIM,OMIM:607473,Subtype of disorder,[Disease subtype],"Vitamin k-dependent clotting factors, combined deficiency of, 2",,"Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome ({1:Fregin et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of combined deficiency of vitamin K-dependent clotting factors, see VKCFD1 ({277450}).",[607473],[98434],[Hereditary combined deficiency of vitamin K-dependent clotting factors],[16856],,,,, +GARD:18197,Active,Orphanet+OMIM,OMIM:614292,Subtype of disorder,[Disease subtype],"Myopia, high, with cataract and vitreoretinal degeneration",,,[614292],[98619],[Rare isolated myopia],[16859],,,,, +GARD:18198,Active,Orphanet+OMIM,OMIM:615431,Subtype of disorder,[Disease subtype],"Myopia 23, autosomal recessive",,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {3:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of myopia, see {160700}.",[615431],[98619],[Rare isolated myopia],[16859],,,,, +GARD:18199,Active,Orphanet+OMIM,OMIM:616289,Subtype of disorder,[Disease subtype],Optic atrophy 9,,,[616289],[98676],[Autosomal recessive isolated optic atrophy],[16860],,,,, +GARD:182,Active,Orphanet,ORPHA:1243,Disorder,[Disease],Best vitelliform macular dystrophy,"[BMD, BVMD, Best disease, Best macular dystrophy, Early-onset vitelliform macular dystrophy, Juvenile-onset vitelliform macular dystrophy, Polymorphic vitelline macular degeneration, Vitelliform macular dystrophy type 2]","Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.",[153700],,,,,Best vitelliform macular dystrophy,TRUE,FALSE,Active +GARD:1820,Active,Orphanet,ORPHA:873,Disorder,[Disease],Desmoid tumor,"[Aggressive fibromatosis, Desmoid type fibromatosis]","A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.",[135290],,,,,Desmoid tumor,TRUE,FALSE,Active +GARD:18200,Active,Orphanet+OMIM,OMIM:616732,Subtype of disorder,[Disease subtype],"Optic atrophy 10 with or without ataxia, mental retardation, and seizures",,,[616732],[98676],[Autosomal recessive isolated optic atrophy],[16860],,,,, +GARD:18201,Active,Orphanet+OMIM,OMIM:617302,Subtype of disorder,[Disease subtype],Optic atrophy 11,,"OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by {1:Hartmann et al., 2016}).\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500}).",[617302],[98676],[Autosomal recessive isolated optic atrophy],[16860],,,,, +GARD:18202,Active,Orphanet+OMIM,OMIM:604364,Subtype of disorder,[Disease subtype],"Epilepsy, familial focal, with variable foci 1","[Epilepsy, familial focal, with variable foci, epilepsy, partial, with variable foci]","Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete (summary by {7:Klein et al., 2012}). Detailed electrophysiologic, brain imaging, and/or histologic studies have indicated that some patients have subtle or clear evidence of focal cortical dysplasia (FCD) ({1:Baulac et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Familial Focal Epilepsy With Variable Foci\n\nSee also FFEVF2 ({617116}), caused by mutation in the NPRL2 gene ({607072}) on chromosome 3p21, FFEVF3 ({617118}), caused by mutation in the NPRL3 gene ({600928}) on chromosome 16p13, and FFEVF4 ({617935}), caused by mutation in the SCN3A gene ({182391}) on chromosome 2q24.",[604364],[98820],[Familial focal epilepsy with variable foci],[13295],,,,, +GARD:18203,Active,Orphanet+OMIM,OMIM:617116,Subtype of disorder,[Disease subtype],"Epilepsy, familial focal, with variable foci 2",,"Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by {1:Ricos et al., 2016}).\n\nFor a discussion of genetic heterogeneity of FFEVF, see FFEVF1 ({604364}).",[617116],[98820],[Familial focal epilepsy with variable foci],[13295],,,,, +GARD:18204,Active,Orphanet+OMIM,OMIM:617118,Subtype of disorder,[Disease subtype],"Epilepsy, familial focal, with variable foci 3",,"Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by {1:Ricos et al., 2016}).\n\nFor a discussion of genetic heterogeneity of FFEVF, see FFEVF1 ({604364}).",[617118],[98820],[Familial focal epilepsy with variable foci],[13295],,,,, +GARD:18205,Active,Orphanet+OMIM,OMIM:263000,Subtype of disorder,[Disease subtype],"Interstitial pneumonitis, desquamative, familial","[Pneumonitis, desquamative interstitial, familial, interstitial lung disease, desquamative, ild, desquamative, pneumonia, desquamative interstitial, familial]","Interstitial lung disease (ILD), or pneumonitis, is a heterogeneous group of disorders characterized pathologically by expansion of the interstitial compartment of the lung by inflammatory cells. Fibrosis occurs in many cases ({12:Visscher and Myers, 2006}). See also interstitial lung disease-1 (ILD1; {619611}).\n\nDesquamative interstitial pneumonitis (DIP) was originally described as a pathologic entity by {7:Liebow et al. (1965)}. Lung biopsy shows diffuse and uniform filling of alveoli by clusters of cells which {7:Liebow et al. (1965)} speculated to be 'desquamated pneumocytes.' Since then, these cells have been shown primarily to be pigmented alveolar macrophages. Other features include thickened alveolar septa with an infiltrate of inflammatory cells and plump, cuboidal type II pneumocytes. Mild collagen deposition without architectural distortion or honeycombing may be present. Different forms of ILD represent pathologic classifications based on histologic patterns rather than clinical diagnoses and may occur in a variety of clinical contexts ({12:Visscher and Myers, 2006}).\n\nAlthough DIP occurs most often as a sporadic disorder in adults during the third to fifth decade of life and is highly associated with smoking ({3:Carrington et al., 1978}), reports of a familial form with onset in infancy and early death suggest a genetic basis ({9:Sharief et al., 1994}).\n\nCases of DIP reported in infants are often more severe and refractory to treatment than those reported in adults ({8:Nogee et al., 2001}).",[263000],[98852],[Desquamative interstitial pneumonia],[16864],,,,, +GARD:18206,Active,Orphanet+OMIM,OMIM:612998,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 4, autosomal dominant",[Emery-dreifuss muscular dystrophy 4 with variable features],,[612998],[98853],[Autosomal dominant Emery-Dreifuss muscular dystrophy],[16865],,,,, +GARD:18207,Active,Orphanet+OMIM,OMIM:612999,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 5, autosomal dominant",,,[612999],[98853],[Autosomal dominant Emery-Dreifuss muscular dystrophy],[16865],,,,, +GARD:18208,Active,Orphanet+OMIM,OMIM:614302,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 7, autosomal dominant",,"Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by {1:Liang et al., 2011}).\n\nFor a discussion of genetic heterogeneity of EDMD, see {310300}.",[614302],[98853],[Autosomal dominant Emery-Dreifuss muscular dystrophy],[16865],,,,, +GARD:18209,Active,Orphanet+OMIM,OMIM:616516,Subtype of disorder,[Etiological subtype],"Emery-dreifuss muscular dystrophy 3, autosomal recessive",,"Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by {1:Jimenez-Escrig et al., 2012}).\n\nFor a discussion of genetic heterogeneity of EDMD, see {310300}.",[616516],[98855],[Autosomal recessive Emery-Dreifuss muscular dystrophy],[16866],,,,, +GARD:18210,Active,Orphanet+OMIM,OMIM:603034,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 5","[engel congenital myasthenic syndrome, cms ic, formerly, Endplate acetylcholinesterase deficiency, myasthenic syndrome, congenital, engel type, congenital myasthenic syndrome type ic, formerly]","Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (summary by {4:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[603034],[98915],[Synaptic congenital myasthenic syndromes],[16872],,,,, +GARD:18211,Active,Orphanet+OMIM,OMIM:139393,Subtype of disorder,[Disease subtype],"Guillain-barre syndrome, familial","[Polyneuropathy, inflammatory demyelinating, acute]","Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis ({13:Yuki and Tsujino, 1995}; {5:Koga et al., 2005}). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection ({9:Nachamkin, 2001}).\n\nAlthough rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance ({3:Geleijns et al., 2004}).",[139393],[98916],[Acute inflammatory demyelinating polyradiculoneuropathy],[16873],,,,, +GARD:18212,Active,Orphanet+OMIM,OMIM:122000,Subtype of disorder,[Disease subtype],"Corneal dystrophy, posterior polymorphous, 1","[maumenee corneal dystrophy, corneal dystrophy, hereditary polymorphous posterior, Posterior polymorphous corneal dystrophy, corneal endothelial dystrophy 1, autosomal dominant, formerly]","Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells ({17:Krafchak et al., 2005}). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life.\n\nClinically, PPCD is characterized by vesicles, bands, and polymorphous opacities at the level of the Descemet membrane and corneal endothelium. Peripheral anterior iris adhesions, iris atrophy, pupillary ectropion, and corectopia may also develop. Occasional severe visual disability results from secondary glaucoma or corneal edema. On ultrastructural examination, corneal endothelial cells show fibroblastic and epithelial-like transformation (summary by {19:Liskova et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Posterior Polymorphous Corneal Dystrophy\n\nOther forms of PPCD include PPCD2 ({609140}), caused by mutation in the COL8A2 gene ({120252}) on chromosome 1p34.3; PPCD3 ({609141}), caused by mutation in the ZEB1 gene ({189909}) on chromosome 10p; and PPCD4 ({618031}), caused by mutation in the GRHL2 gene ({608576}) on chromosome 8q22.",[122000],[98973],[Posterior polymorphous corneal dystrophy],[16882],,,,, +GARD:18213,Active,Orphanet+OMIM,OMIM:609140,Subtype of disorder,[Disease subtype],"Corneal dystrophy, posterior polymorphous, 2",,,[609140],[98973],[Posterior polymorphous corneal dystrophy],[16882],,,,, +GARD:18214,Active,Orphanet+OMIM,OMIM:609141,Subtype of disorder,[Disease subtype],"Corneal dystrophy, posterior polymorphous, 3",,,[609141],[98973],[Posterior polymorphous corneal dystrophy],[16882],,,,, +GARD:18215,Active,Orphanet+OMIM,OMIM:618031,Subtype of disorder,[Disease subtype],"Corneal dystrophy, posterior polymorphous, 4",,"PPCD4 is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape. There is inter- and intrafamilial as well as intraindividual variability. Symptoms can include blurred vision due to corneal edema, reduced visual acuity, secondary glaucoma, and corectopia; some affected individuals are asymptomatic. Rare patients have undergone enucleation for painful eye ({1:Liskova et al., 2018}).\n\nFor a discussion of genetic heterogeneity of PPCD, see {122000}.",[618031],[98973],[Posterior polymorphous corneal dystrophy],[16882],,,,, +GARD:18216,Active,Orphanet+OMIM,OMIM:136800,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 1","[Corneal dystrophy, fuchs endothelial, early-onset]","Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane. These excrescences, called guttae, are the clinical hallmark of FECD and become more numerous with progression of the disease. As the endothelial layer develops confluent guttae in the central cornea, the cells are no longer able to keep the cornea dehydrated and clear (summary by {2:Baratz et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Fuchs Endothelial Corneal Dystrophy\n\nMore common, late-onset forms of FECD have been shown to be caused by mutation in the SLC4A11 gene ({610206}) on chromosome 20p13 (FECD4; {613268}), in the ZEB1 gene ({189909}) on chromosome 10p11.2 (FECD6; {613270}), and in the AGBL1 gene ({615496}) on chromosome 15q25 (FECD8; {615523}).\n\nOther loci for late-onset FECD have been identified on chromosomes 13pter-q12.13 (FECD2; {610158}), 18q21.2-q21.32 (FECD3; {613267}), 5q33.1-q35.2 (FECD5; {613269}), and 9p (FECD7; {613271}).",[136800],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18217,Active,Orphanet+OMIM,OMIM:610158,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 2",,"Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision ({10:Sundin et al., 2006}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[610158],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18218,Active,Orphanet+OMIM,OMIM:613267,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 3","[corneal dystrophy, fuchs endothelial, late-onset, Fcd2 locus]","Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision ({10:Sundin et al., 2006}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[613267],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18219,Active,Orphanet+OMIM,OMIM:613268,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 4","[Corneal dystrophy, fuchs endothelial, late-onset]","Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {1:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[613268],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18220,Active,Orphanet+OMIM,OMIM:613269,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 5",,"Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {2:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Fuchs corneal dystrophy, see FECD1 ({136800}).",[613269],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18221,Active,Orphanet+OMIM,OMIM:613270,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 6","[Corneal dystrophy, fuchs endothelial, late-onset]","Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {2:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[613270],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18222,Active,Orphanet+OMIM,OMIM:613271,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 7",,"For a phenotypic description and a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800}).",[613271],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18223,Active,Orphanet+OMIM,OMIM:615523,Subtype of disorder,[Disease subtype],"Corneal dystrophy, fuchs endothelial, 8",,"Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {1:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of FECD, see FECD1 ({136800}).",[615523],[98974],[Fuchs endothelial corneal dystrophy],[10018],,,,, +GARD:18224,Active,Orphanet+OMIM,OMIM:231300,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary congenital, a","[buphthalmos, Glaucoma, congenital]","Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an incidence ranging from 1 in 30,000 to 1 in 1,250. Signs of the disease include early onset (birth to 3 years of age), increased intraocular pressure, increased corneal diameter, enlarged globe, Haab striae (breaks in Descemet membrane), corneal edema, and optic nerve head cupping. Congenital glaucoma is a chronic disease and a serious cause of blindness worldwide (summary by {1:Azmanov et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Primary Congenital Glaucoma\n\nPrimary congenital glaucoma-3B (GLC3B; {600975}) maps to chromosome 1p36.2-p36.1. GLC3C ({613085}) maps to chromosome 14q24.3. GLC3D ({613086}) is caused by mutation in the LTBP2 gene ({602091}) located on chromosome 14q24 but outside the locus for GLC3C. GLC3E ({617272}) is caused by mutation in the TEK gene ({600221}) on chromosome 9p21.",[231300],"[98977, 98976]","[Juvenile glaucoma, Congenital glaucoma]","[16883, 2485]",,,,, +GARD:18225,Active,Orphanet+OMIM,OMIM:613085,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary congenital, c",,"For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A ({231300}).",[613085],[98976],[Congenital glaucoma],[2485],,,,, +GARD:18226,Active,Orphanet+OMIM,OMIM:613086,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary congenital, d",,,[613086],[98976],[Congenital glaucoma],[2485],,,,, +GARD:18227,Active,Orphanet+OMIM,OMIM:617272,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary congenital, e",,,[617272],[98976],[Congenital glaucoma],[2485],,,,, +GARD:18228,Active,Orphanet+OMIM,OMIM:608695,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, j",,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}.\n\n{1:Wiggs et al. (2004)} identified 25 pedigrees with typical juvenile-onset primary open angle glaucoma (JOAG), demonstrating autosomal dominant inheritance. They sequenced the myocilin gene (MYOC; {601652}) in probands from each family and found mutations in 8%. To identify novel genes responsible for JOAG, they used families that did not have myocilin mutations for a genomewide screen. Multipoint linkage analysis of chromosome 9 markers achieved a peak hlod score of 4.0 between markers D9S1803 and D9S196 on chromosome 9q22. Critical recombinants identified a 9-cM region between markers D9S1841 and D9S271.",[608695],[98977],[Juvenile glaucoma],[16883],,,,, +GARD:18229,Active,Orphanet+OMIM,OMIM:608696,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, k",,"For a general phenotypic description and a discussion of genetic heterogeneity of open angle glaucoma (POAG), see {137760}.",[608696],[98977],[Juvenile glaucoma],[16883],,,,, +GARD:1823,Active,Orphanet,ORPHA:1799,Disorder,[Clinical syndrome],Familial developmental dysphasia,"[Billard-Toutain-Maheut syndrome, FOXP2-associated dysphasia]","Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.",[600117],,,,,Developmental dysphasia familial,TRUE,FALSE,Active +GARD:18230,Active,Orphanet+OMIM,OMIM:610535,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, m",,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}.",[610535],[98977],[Juvenile glaucoma],[16883],,,,, +GARD:18231,Active,Orphanet+OMIM,OMIM:611274,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, n",,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}.",[611274],[98977],[Juvenile glaucoma],[16883],,,,, +GARD:18232,Active,Orphanet+OMIM,OMIM:605728,Subtype of disorder,[Clinical subtype],Cataract 25,,,[605728],[98985],[Early-onset sutural cataract],[16885],,,,, +GARD:18233,Active,Orphanet+OMIM,OMIM:115800,Subtype of disorder,[Clinical subtype],Cataract 29,,"Coralliform cataracts are characterized by multiple coral-like white opacities that radiate out bilaterally in an axial direction from the center of the lens in a fusiform or spindle-shaped fashion but never actually reach the capsule (summary by {1:Gao et al., 2005}).",[115800],[98990],[Coralliform cataract],[16886],,,,, +GARD:18234,Active,Orphanet+OMIM,OMIM:116400,Subtype of disorder,[Clinical subtype],Cataract 41,"[Cataract 41, congenital nuclear type]","Cataract is an opacification of the lens or lens capsule in the eye and is the most common cause of childhood blindness in the world, with an incidence of 1 to 3 per 10,000 live births. If untreated in infancy or childhood, it frequently causes visual impairment and can result in irreversible amblyopia. Nuclear cataract refers to opacification within the embryonal and/or fetal nuclei of the lens (summary by {1:Berry et al., 2013}).",[116400],[98991],[Early-onset nuclear cataract],[16887],,,,, +GARD:18235,Active,Orphanet+OMIM,OMIM:607304,Subtype of disorder,[Clinical subtype],Cataract 27,,,[607304],[98991],[Early-onset nuclear cataract],[16887],,,,, +GARD:18236,Active,Orphanet+OMIM,OMIM:611391,Subtype of disorder,[Clinical subtype],"Cataract 33, multiple types",,"Mutations in the BFSP1 gene have been found to cause multiple types of cataract, which have been described as cortical, nuclear, and progressive punctate lamellar. Both autosomal dominant and autosomal recessive modes of inheritance have been reported.",[611391],[98991],[Early-onset nuclear cataract],[16887],,,,, +GARD:18237,Active,Orphanet+OMIM,OMIM:169150,Subtype of disorder,[Disease subtype],"Macular dystrophy, patterned, 1","[butterfly dystrophy of retinal pigment epithelium, Patterned dystrophy of retinal pigment epithelium, macular dystrophy, butterfly-shaped pigmentary]","Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see {268000})-like changes have sometimes been observed in association with patterned dystrophies (summary by {10:Vaclavik et al., 2012}).\n\nThree main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see {179840} and {267800}), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea.\n\n<Subhead> Genetic Heterogeneity of Patterned Macular Dystrophy\n\nAlso see MDPT2 ({608970}), caused by mutation in the CTNNA1 gene ({116805}) on chromosome 5q31; and MDPT3 ({617111}), caused by mutation in the MAPKAPK3 gene ({602130}) on chromosome 3p21.",[169150],[99001],[Butterfly-shaped pigment dystrophy],[16890],,,,, +GARD:18238,Active,Orphanet+OMIM,OMIM:608970,Subtype of disorder,[Disease subtype],"Macular dystrophy, patterned, 2","[Macular dystrophy, butterfly-shaped pigmentary, 2]","Butterfly-shaped pigmentary macular dystrophy is an autosomal dominant eye disease characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly (summary by {4:van Lith-Verhoeven et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of patterned macular dystrophy, see {169150}.",[608970],[99001],[Butterfly-shaped pigment dystrophy],[16890],,,,, +GARD:18239,Active,Orphanet+OMIM,OMIM:179840,Subtype of disorder,[Disease subtype],Reticular dystrophy of retinal pigment epithelium,,"Reticular dystrophy is a disorder of protean manifestations occurring in the retinal pigment epithelium (RPE) with little or no involvement of the neurosensory retina. The disorder may be detected at an early age and may be slowly progressive, but the prognosis for visual acuity is good. Abnormalities of dark adaptation and nyctalopia may develop with time. Electrophysiologic testing may show a normal electroretinogram (ERG), subnormal electrooculogram (EOG), and subnormal results of dark adaptation studies (summary by {2:Kingham et al., 1978}).",[179840],[99002],[Reticular dystrophy of the retinal pigment epithelium],[16891],,,,, +GARD:18240,Active,Orphanet+OMIM,OMIM:267800,Subtype of disorder,[Disease subtype],"Retinal dystrophy, reticular pigmentary, of posterior pole",,"Reticular pigmentary retinal dystrophy is a form of patterned dystrophy (see MDPT1, {169150}) characterized by a reticular pattern of pigmentation that likely appears in infancy and may be fully developed at age 15 years. Indirect funduscopy has shown that the condition is bilateral and symmetric and that the pigmentary deposits are localized below the neuroepithelium, very likely in the pigment epithelium. The reticulum extends from the macula in all directions, sparing the midperiphery and periphery. Visual acuity is unaffected or only minimally affected in advanced stages. Retinal function testing is normal, although the electrooculogram and dark adaptation can be at the lower limit of normal values (summary by {2:Schauwvlieghe et al., 2013}).",[267800],[99002],[Reticular dystrophy of the retinal pigment epithelium],[16891],,,,, +GARD:18241,Active,Orphanet+OMIM,OMIM:617175,Subtype of disorder,[Disease subtype],Retinal dystrophy with or without extraocular anomalies,,,[617175],[99002],[Reticular dystrophy of the retinal pigment epithelium],[16891],,,,, +GARD:18242,Active,Orphanet+OMIM,OMIM:271950,Subtype of disorder,[Clinical subtype],"Subaortic stenosis, membranous",,{1:Gale et al. (1974)} reported this anomaly in a brother and sister. No familial cases had been reported previously. {2:Richardson et al. (1991)} described one family in which a mother and daughter were affected and a second family in which a boy was found to have a subaortic ridge after repair of aortic coarctation and a maternal uncle likewise had 'fixed' subaortic stenosis.,[271950],[99051],[Discrete fixed membranous subaortic stenosis],[16892],,,,, +GARD:18243,Active,Orphanet+OMIM,OMIM:119570,Subtype of disorder,[Morphological anomaly subtype],Cleft soft palate,,{1:Jenkins and Stady (1980)} described a family with simple cleft palate (cleft of the soft palate) in 7 males of 5 sibships in 4 generations.,[119570],[99772],[Cleft velum],[16907],,,,, +GARD:18244,Active,Orphanet+OMIM,OMIM:106600,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 1","[Hypodontia/oligodontia 1, tooth agenesis, familial, second premolars and third molars, absence of]","Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by {3:Gorlin et al. (1990)}. The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see {114600} and {302400}.\n\nSelective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete ({8:Salinas, 1978}).\n\n<Subhead> Genetic Heterogeneity of Selective Tooth Agenesis\n\nOther forms of selective tooth agenesis include STHAG2 ({602639}), mapped to chromosome 16q12; STHAG3 ({604625}), caused by mutation in the PAX9 gene ({167416}) on chromosome 14q12; STHAG4 ({150400}), caused by mutation in the WNT10A gene ({606268}) on chromosome 2q35; STHAG5 ({610926}), mapped to chromosome 10q11; STHAG7 ({616724}), caused by mutation in the LRP6 gene ({603507}) on chromosome 12p13; STHAG8 ({617073}), caused by mutation in the WNT10B gene ({601906}) on chromosome 12q13; STHAG9 ({617275}), caused by mutation in the GREM2 gene ({608832}) on chromosome 1q43; and STHAGX1 ({313500}), caused by mutation in the EDA gene ({300451}) on chromosome Xq13.\n\nA type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; {601216}).\n\nOf 34 unrelated patients with nonsyndromic tooth agenesis, {9:van den Boogaard et al. (2012)} found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia.\n\n<Subhead> Genotype-Phenotype Correlations\n\n{12:Yu et al. (2016)} observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.",[106600],[99798],[Oligodontia],[16908],,,,, +GARD:18245,Active,Orphanet+OMIM,OMIM:150400,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 4","[lateral incisors, absence of, Tooth agenesis, selective, 4, with or without ectodermal dysplasia, lateral incisors, pegged or missing, succedaneous teeth, agenesis of]",,[150400],[99798],[Oligodontia],[16908],,,,, +GARD:18246,Active,Orphanet+OMIM,OMIM:313500,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, x-linked, 1","[Hypodontia/oligodontia, x-linked, 1]",,[313500],[99798],[Oligodontia],[16908],,,,, +GARD:18247,Active,Orphanet+OMIM,OMIM:604625,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 3",[Hypodontia/oligodontia 3],,[604625],[99798],[Oligodontia],[16908],,,,, +GARD:18248,Active,Orphanet+OMIM,OMIM:610926,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 5",,"For a general phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 ({106600}).",[610926],[99798],[Oligodontia],[16908],,,,, +GARD:18249,Active,Orphanet+OMIM,OMIM:616724,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 7",,,[616724],[99798],[Oligodontia],[16908],,,,, +GARD:18250,Active,Orphanet+OMIM,OMIM:617073,Subtype of disorder,[Morphological anomaly subtype],"Tooth agenesis, selective, 8",,,[617073],[99798],[Oligodontia],[16908],,,,, +GARD:18251,Active,Orphanet+OMIM,OMIM:268200,Subtype of disorder,[Disease subtype],"Myoglobinuria, acute recurrent, autosomal recessive","[rhabdomyolysis, acute recurrent, Myoglobinuria, familial paroxysmal paralytic]","Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome ({232600}), carnitine palmitoyltransferase deficiency (see {255110}), and the Creteil variety of phosphoglycerate kinase deficiency ({311800}), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. ({6:Ramesh and Gardner-Medwin, 1992}).\n\nSee {160010} for discussion of a possible autosomal dominant form of myglobinuria.\n\nSevere rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia ({145600}), an autosomal dominant disorder.",[268200],[99845],[Genetic recurrent myoglobinuria],[16916],,,,, +GARD:18252,Active,Orphanet+OMIM,OMIM:615889,Subtype of disorder,[Clinical subtype],"Leukoencephalopathy, progressive, with ovarian failure",,"Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by {1:Dallabona et al., 2014}).",[615889],[99853],[Ovarioleukodystrophy],[16918],,,,, +GARD:18253,Active,Orphanet+OMIM,OMIM:145000,Subtype of disorder,[Disease subtype],Hyperparathyroidism 1,"[Hyperparathyroidism, familial isolated primary]","Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by {28:Shibata et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Familial Hyperparathyroidism\n\nHyperparathyroidism-2 with jaw tumors (HRPT2; {145001}), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3; {610071}) has been mapped to chromosome 2p14-p13.3. HRPT4 ({617343}) is caused by mutation in the GCM2 gene ({603716}) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT; {239200}) is caused by mutation in the CASR gene ({601199}) on chromosome 3q.\n\nFamilial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, {131100}).\n\nFamilial hypocalciuric hypercalcemia (see {145980}) can be confused with familial primary hyperparathyroidism.",[145000],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18254,Active,Orphanet+OMIM,OMIM:600166,Subtype of disorder,[Disease subtype],"Hyperparathyroidism, primary, caused by water clear cell hyperplasia",,"Primary hyperparathyroidism due to water clear cell hyperplasia (WCCH) shows a strong association with blood group O ({2:Tisell et al., 1981}). {1:Hedbaeck and Oden (1994)} compared the blood groups of 32 cases of WCCH with those of 2 control groups, one with primary hyperparathyroidism due to other causes and the other with the population in a geographically defined area of Sweden. The blood group distribution differed between the 2 control groups, but the findings in the patients with WCCH differed with high significance (P = 0.00040). This association was thought to be by far the strongest association with the ABO system demonstrated to date.",[600166],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18255,Active,Orphanet+OMIM,OMIM:610071,Subtype of disorder,[Disease subtype],Hyperparathyroidism 3,,"For a phenotypic description and a discussion of genetic heterogeneity of familial primary hyperparathyroidism, see HRPT1 ({145000}).",[610071],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18256,Active,Orphanet+OMIM,OMIM:617343,Subtype of disorder,[Disease subtype],Hyperparathyroidism 4,,,[617343],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18257,Active,Orphanet+OMIM,OMIM:618883,Subtype of disorder,[Disease subtype],"Hypoparathyroidism, familial isolated, 2",,"Patients with familial isolated hypoparathyroidism-2 (FIH2) usually present with seizures, caused by hypocalcemia, in early life. Serum parathyroid hormone (PTH; {168450}) levels are low to undetectable. Hyperphosphatemia is present, and levels of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D may be within the normal range. Development can be normal if hypocalcemia is treated with calcium and vitamin D supplementation ({5:Ding et al., 2001}). Some patients have been found to lack parathyroid glands ({8:Thomee et al., 2005}).\n\nFor a discussion of genetic heterogeneity of familial isolated hypoparathyroidism, see FIH1 ({146200}).",[618883],[99879],[Familial isolated hyperparathyroidism],[16923],,,,, +GARD:18258,Active,Orphanet+OMIM,OMIM:617607,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type iiib",,"Hypomineralized amelogenesis imperfecta type IIIB is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places ({1:Smith et al., 2016}).",[617607],[100032],[Hypocalcified amelogenesis imperfecta],[16931],,,,, +GARD:18259,Active,Orphanet+OMIM,OMIM:300909,Subtype of disorder,[Disease subtype],"Angioedema induced by ace inhibitors, susceptibility to",,"Approximately 40 million people take ACE inhibitors (ACEi) to treat hypertension and cardiovascular disease. A small proportion of white patients who take ACEi (0.1-0.7%) develop angioedema (AEACEI) ({7:Israili and Hall, 1992}; {8:Vleeming et al., 1998}), a potentially life-threatening side effect characterized by swelling of the face, lips, tongue, and airway that can lead to suffocation and death if severe. ACEi-associated angioedema is 4 to 5 times more prevalent among African Americans ({3:Brown et al., 1996}; {5:Coats, 2002}). Other risk factors include female sex, smoking, immunosuppressant therapy, and seasonal allergies. The pathophysiology of ACEi-associated angioedema is thought to be related to increased circulating bradykinin, which is normally degraded by ACE. During pharmacologic ACE inhibition, bradykinin is primarily degraded by aminopeptidase P (summary by {6:Duan et al., 2005} and {9:Woodard-Grice et al., 2010}). Aminopeptidase P is encoded by 3 genes: XPNPEP1 ({602443}) on chromosome 10q25, XPNPEP2 ({300145}) on chromosome Xq25, and XPNPEP3 ({613553}) on chromosome 22q13.",[300909],[100057],[Renin-angiotensin-aldosterone system-blocker-induced angioedema],[16936],,,,, +GARD:18260,Active,Orphanet+OMIM,OMIM:270420,Subtype of disorder,[Disease subtype],"Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies","[Sodium diarrhea, congenital, diarrhea 3, secretory sodium, congenital, syndromic]",,[270420],[103908],[Congenital sodium diarrhea],[16945],,,,, +GARD:18261,Active,Orphanet+OMIM,OMIM:616868,Subtype of disorder,[Disease subtype],"Diarrhea 8, secretory sodium, congenital","[Diarrhea, congenital sodium]",,[616868],[103908],[Congenital sodium diarrhea],[16945],,,,, +GARD:18262,Active,Orphanet+OMIM,OMIM:158590,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type iia","[charcot-marie-tooth disease, spinal, iia, neuropathy, distal hereditary motor, type iia, spinal muscular atrophy, distal, adult, autosomal dominant, iia, Hmn iia]",,[158590],[139525],[Distal hereditary motor neuropathy type 2],[16954],,,,, +GARD:18263,Active,Orphanet+OMIM,OMIM:608634,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type iib","[neuropathy, distal hereditary motor, type iib, Hmn iib]",,[608634],[139525],[Distal hereditary motor neuropathy type 2],[16954],,,,, +GARD:18264,Active,Orphanet+OMIM,OMIM:613376,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type iic","[neuropathy, distal hereditary motor, type iic, Hmn iic]",,[613376],[139525],[Distal hereditary motor neuropathy type 2],[16954],,,,, +GARD:18265,Active,Orphanet+OMIM,OMIM:615575,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type iid","[neuropathy, distal hereditary motor, type iid, spinal muscular atrophy, distal, autosomal dominant, calf-predominant, Hmn iid]","Distal hereditary motor neuronopathy type IID is an autosomal dominant neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by {2:Sumner et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1; {182960}).",[615575],[139525],[Distal hereditary motor neuropathy type 2],[16954],,,,, +GARD:18266,Active,Orphanet+OMIM,OMIM:600794,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type va","[Hmn 5a, neuronopathy, distal hereditary motor, type v, neuropathy, distal hereditary motor, type va, spinal muscular atrophy, distal, with upper limb predominance, dhmn va, spinal muscular atrophy, distal, type va, spinal muscular atrophy, distal, type v]","Distal hereditary motor neuronopathy type VA (dHMN5A or HMN5A) is an autosomal dominant neuromuscular disorder characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life. The disorder is slowly progressive, and most patients eventually have lower limb involvement with foot deformities. Although sensory impairment is uncommon, some patients show this feature, illustrating the phenotypic overlap with CMT2D. Rare patients may have pyramidal signs or hyperreflexia (summary by {3:Christodoulou et al., 1995} and {4:Dubourg et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN1 ({182960}).",[600794],[139536],[Distal hereditary motor neuropathy type 5],[16955],,,,, +GARD:18267,Active,Orphanet+OMIM,OMIM:614751,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type vb","[neuropathy, distal hereditary motor, type vb, spinal muscular atrophy, distal, type vb, Hmn vb, dhmn vb]","Distal hereditary motor neuronopathy type VB is an autosomal dominant neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by {1:Beetz et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1; {182960}).",[614751],[139536],[Distal hereditary motor neuropathy type 5],[16955],,,,, +GARD:18268,Active,Orphanet+OMIM,OMIM:619112,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type vc","[spinal muscular atrophy, distal, type 5c, Dhmn5c]","Distal hereditary motor neuronopathy type VC (dHMN5C or HMN5C) is an autosomal dominant neurologic disorder characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills. Some patients show spasticity and hyperreflexia, mainly of the lower limbs: these features overlap with those observed in Silver syndrome, an allelic disorder. In addition, some patients with BSCL2 mutations show features of Charcot-Marie-Tooth type 2 (CMT2) with distal sensory impairment. HMN5C, Silver syndrome (SPG17), and features of axonal sensorimotor peripheral neuropathy (CMT2) thus represent a phenotypic spectrum associated with heterozygous mutations in the BSCL2 gene. Individuals with the same mutation may manifest features consistent with any of those disorders; variability is even observed within the same family (summary by {8:Van de Warrenburg et al., 2006}; {7:Luigetti et al., 2010}; {4:Choi et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; {182960}).",[619112],[139536],[Distal hereditary motor neuropathy type 5],[16955],,,,, +GARD:18269,Active,Orphanet+OMIM,OMIM:158580,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type viia","[spinal muscular atrophy, distal, with vocal cord paralysis, Hmn viia, neuropathy, distal hereditary motor, type viia, dhmnvp, harper-young myopathy, dhmn7a]","Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by {1:Barwick et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; {182960}).",[158580],[139589],[Distal hereditary motor neuropathy type 7],[16960],,,,, +GARD:1827,Active,Orphanet,ORPHA:1666,Disorder,[Morphological anomaly],Dextrocardia,,"A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricle, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases.",,,,,,Dextrocardia,TRUE,FALSE,Active +GARD:18270,Active,Orphanet+OMIM,OMIM:607641,Subtype of disorder,[Disease subtype],"Neuronopathy, distal hereditary motor, type viib","[neuropathy, distal hereditary motor, with vocal cord paralysis, type viib, lower motor neuron disease, dynactin type, dhmn7b, Hmn viib, neuropathy, distal hereditary motor, type viib]",,[607641],[139589],[Distal hereditary motor neuropathy type 7],[16960],,,,, +GARD:18271,Active,Orphanet+OMIM,OMIM:613112,Subtype of disorder,[Disease subtype],"Macrothrombocytopenia, isolated, 1, autosomal dominant",,"Autosomal dominant isolated macrothrombocytopenia-1 (MACTHC1) is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Affected individuals do not have increased bleeding episodes and platelet function is normal; macrothrombocytopenia is usually an incidental laboratory finding ({3:Kunishima et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Isolated Macrothrombocytopenia\n\nSee also MACTHC2 ({619840}), caused by mutation in the TUBA8 gene ({605742}) on chromosome 22q11.",[613112],[140957],[Autosomal dominant macrothrombocytopenia],[16965],,,,, +GARD:18272,Active,Orphanet+OMIM,OMIM:615193,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 15","[Macrothrombocytopenia, autosomal dominant, actn1-related]","Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by {1:Kunishima et al., 2013}).",[615193],[140957],[Autosomal dominant macrothrombocytopenia],[16965],,,,, +GARD:18273,Active,Orphanet+OMIM,OMIM:619271,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 24",[Glanzmann thrombasthenia-like with macrothrombocytopenia 2],"Platelet-type bleeding disorder-24 (BDPLT24) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by {5:Kunishima et al., 2011} and {6:Nurden et al., 2011}).\n\nFor a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see {187800}.",[619271],[140957],[Autosomal dominant macrothrombocytopenia],[16965],,,,, +GARD:18274,Active,Orphanet+OMIM,OMIM:108760,Subtype of disorder,[Morphological anomaly subtype],Atresia of external auditory canal and conductive deafness,,,[108760],[141074],[External auditory canal aplasia/hypoplasia],[16969],,,,, +GARD:18275,Active,Orphanet+OMIM,OMIM:607842,Subtype of disorder,[Morphological anomaly subtype],"Aural atresia, congenital","[Aural atresia, congenital, with hyposmia]","{1:Altmann (1955)} was the first to describe a congenital aural atresia (CAA) classification, which has been modified over the years ({2:Cremers et al., 1988}; {7:Schuknecht, 1989}; {4:Jahrsdoerfer et al., 1992}). In CAA type I, there is bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity (summary by {3:Feenstra et al., 2011}).",[607842],[141074],[External auditory canal aplasia/hypoplasia],[16969],,,,, +GARD:18276,Active,Orphanet+OMIM,OMIM:610069,Subtype of disorder,[Disease subtype],"Polyposis syndrome, hereditary mixed, 2",,"Hereditary mixed polyposis syndrome-2 (HMPS2) is characterized by colonic polyps of mixed hyperplastic, adenomatous, and occasional juvenile types. Polyposis eventually progresses to colorectal cancer ({1:Cao et al., 2006}).\n\nFor a discussion of genetic heterogeneity of HMPS, see HMPS1 ({601228}).",[610069],[157794],[Hereditary mixed polyposis syndrome],[16981],,,,, +GARD:18277,Active,Orphanet+OMIM,OMIM:610313,Subtype of disorder,[Disease subtype],Crisponi/cold-induced sweating syndrome 2,,"Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by {2:Hahn et al., 2010}). {1:Buers et al. (2020)} provided a detailed review of Crisponi/CISS, including clinical features and evolution of the disease, noting that signs and symptoms in infancy can be severe and result in early death; clinical and genetic diagnoses. The authors also discussed pathogenesis, differential diagnosis, and recommended management and treatment.\n\n{1:Buers et al. (2020)} provided a detailed review of Crisponi/CISS, including clinical features, diagnosis, and evolution of the disease, differential diagnosis, pathogenesis, and recommended management and treatment.\n\nFor a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 ({272430}).",[610313],[157820],[Cold-induced sweating syndrome],[16983],,,,, +GARD:18278,Active,Orphanet+OMIM,OMIM:617055,Subtype of disorder,[Disease subtype],Perching syndrome,"[Crisponi/cold-induced sweating syndrome 3, formerly]","PERCHING syndrome is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating. Each letter of the PERCHING acronym represents 2 important phenotypic elements: Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations; and facial Gestalt/grimacing and Genitourinary abnormalities ({4:Jeffries et al., 2019}). Death in infancy or early childhood often occurs, although survival to the third decade has been reported. Some of the features, such as contractures, dysmorphic craniofacial features, and severe feeding difficulties, are reminiscent of Bohring-Opitz syndrome ({605039}) (summary by {5:Kanthi et al., 2019} and {3:Buers et al., 2020}).",[617055],[157820],[Cold-induced sweating syndrome],[16983],,,,, +GARD:18279,Active,Orphanet+OMIM,OMIM:611630,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 3",,"For a general description and a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL2 ({608096}).",[611630],[163717],[Benign familial mesial temporal lobe epilepsy],[17001],,,,, +GARD:18280,Active,Orphanet+OMIM,OMIM:614417,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 5",,,[614417],[163717],[Benign familial mesial temporal lobe epilepsy],[17001],,,,, +GARD:18281,Active,Orphanet+OMIM,OMIM:615697,Subtype of disorder,[Disease subtype],"Epilepsy, familial temporal lobe, 6",,"For a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL1 ({600512}).",[615697],[163717],[Benign familial mesial temporal lobe epilepsy],[17001],,,,, +GARD:18282,Active,Orphanet+OMIM,OMIM:300643,Subtype of disorder,[Disease subtype],"Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked","[Rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked]",,[300643],[163721],[Rolandic epilepsy-speech dyspraxia syndrome],[17002],,,,, +GARD:18283,Active,Orphanet+OMIM,OMIM:614418,Subtype of disorder,[Disease subtype],"Febrile seizures, familial, 11","[Convulsions, familial febrile, 11]","Familial febrile seizures-11 is an autosomal recessive seizure disorder characterized by early childhood onset of simple or complex seizures associated with fever. These seizures usually remit later in childhood with no neurologic sequelae (summary by {1:Salzmann et al., 2012}).\n\nFor a general description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 ({121210}).",[614418],[165805],[Familial mesial temporal lobe epilepsy with febrile seizures],[17011],,,,, +GARD:18284,Active,Orphanet+OMIM,OMIM:163800,Subtype of disorder,[Disease subtype],Sick sinus syndrome 2,"[Sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation, sinus node disease, familial, autosomal dominant, atrial fibrillation with bradyarrhythmia, sinus bradycardia syndrome, familial, autosomal dominant]",,[163800],[166282],[Familial sick sinus syndrome],[13663],,,,, +GARD:18285,Active,Orphanet+OMIM,OMIM:614090,Subtype of disorder,[Disease subtype],"Sick sinus syndrome 3, susceptibility to",,"Sick sinus syndrome may be encountered at any age but is primarily a disease of the elderly and is often secondary to other cardiac disorders when diagnosed in younger individuals. Symptoms are often intermittent and/or nonspecific and include dizziness, syncope, and heart failure. The only effective treatment for symptomatic and irreversible sinus node dysfunction is permanent cardiac pacing, and sick sinus syndrome remains the most common indication for permanent pacemaker implantation (summary by {1:Holm et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of sick sinus syndrome, see SSS1 ({608567}).",[614090],[166282],[Familial sick sinus syndrome],[13663],,,,, +GARD:18286,Active,Orphanet+OMIM,OMIM:613339,Subtype of disorder,[Disease subtype],"Epilepsy, hot water, 1",,"Hot water epilepsy (HWE) is a form of reflex or sensory epilepsy in which seizures are precipitated by immersion in hot water or pouring of hot water over the head during bathing. The seizures are usually complex partial, but about 33% of patients experience secondary generalization. There are no additional neurologic abnormalities ({7:Satishchandra, 2003}).",[613339],[166412],[Hot water reflex epilepsy],[17028],,,,, +GARD:18287,Active,Orphanet+OMIM,OMIM:613340,Subtype of disorder,[Disease subtype],"Epilepsy, hot water, 2",,"For a general phenotypic description and a discussion of genetic heterogeneity of hot water epilepsy, see HWE1 ({613339}).",[613340],[166412],[Hot water reflex epilepsy],[17028],,,,, +GARD:18288,Active,Orphanet+OMIM,OMIM:273900,Subtype of disorder,[Etiological subtype],Thrombocytopenia 3,"[Thrombocytopenia, autosomal recessive, 3]","Thrombocytopenia-3 (THC3) is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by {3:Levin et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.",[273900],[168629],[Autosomal thrombocytopenia with normal platelets],[17041],,,,, +GARD:18289,Active,Orphanet+OMIM,OMIM:612004,Subtype of disorder,[Etiological subtype],Thrombocytopenia 4,"[Thrombocytopenia, autosomal dominant, 4]",,[612004],[168629],[Autosomal thrombocytopenia with normal platelets],[17041],,,,, +GARD:18290,Active,Orphanet+OMIM,OMIM:610102,Subtype of disorder,[Disease subtype],Complement component 7 deficiency,[C7 deficiency],"Patients with C7 deficiency have an increased susceptibility to recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis ({14:Nishizaka et al., 1996}).",[610102],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,,,, +GARD:18291,Active,Orphanet+OMIM,OMIM:612446,Subtype of disorder,[Disease subtype],Complement component 6 deficiency,[C6 deficiency],,[612446],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,,,, +GARD:18292,Active,Orphanet+OMIM,OMIM:613825,Subtype of disorder,[Disease subtype],Complement component 9 deficiency,[C9 deficiency],,[613825],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,,,, +GARD:18293,Active,Orphanet+OMIM,OMIM:608971,Subtype of disorder,[Disease subtype],Immunodeficiency 104,"[scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive]","Immunodeficiency-104 (IMD104) is an autosomal recessive disorder characterized by the onset of recurrent infections in early infancy. Manifestations may include oral thrush, fever, and failure to thrive. Some patients have lymphadenopathy and hepatosplenomegaly, whereas others have absence of lymph nodes and lack a thymic shadow. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, variable hypogammaglobulinemia, and normal NK cells. The disorder is caused by a defect in IL7 ({146660}) signaling due to a mutant IL7 receptor. Hematopoietic stem cell transplantation may be curative ({6:Roifman et al., 2000} and {1:Giliani et al., 2005}).\n\n{1:Giliani et al. (2005)} provided a detailed review of IL7R deficiency, including discussion of the IL7R gene and its function in the immune system, clinical features of the disorder, and experiences with hematopoietic stem cell transplant as treatment.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see {601457}.",[608971],[169160],[T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta],[17053],,,,, +GARD:18294,Active,Orphanet+OMIM,OMIM:610163,Subtype of disorder,[Disease subtype],Immunodeficiency 25,[Immunodeficiency due to defect in cd3-zeta],,[610163],[169160],[T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta],[17053],,,,, +GARD:18295,Active,Orphanet+OMIM,OMIM:615615,Subtype of disorder,[Disease subtype],Immunodeficiency 18,[Cd3-epsilon deficiency],"Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by {1:de Saint Basile et al., 2004}).",[615615],[169160],[T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta],[17053],,,,, +GARD:18296,Active,Orphanet+OMIM,OMIM:615617,Subtype of disorder,[Disease subtype],Immunodeficiency 19,"[scid, t cell-negative, b cell-positive, nk cell-positive, severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, Cd3-delta deficiency]","Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by {4:Yu et al., 2011}).",[615617],[169160],[T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta],[17053],,,,, +GARD:18297,Active,Orphanet+OMIM,OMIM:613658,Subtype of disorder,[Disease subtype],Rajab interstitial lung disease with brain calcifications 1,"[neurodevelopmental disorder with brain, liver, and lung abnormalities, formerly, developmental delay, small stature, microcephaly, and brain calcifications, formerly, Rajab interstitial lung disease with brain calcifications, rajab syndrome]","Rajab interstitial lung disease with brain calcifications-1 (RILCBC1) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by {3:Xu et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Rajab Interstitial Lung Disease with Brain Calcifications\n\nAlso see Rajab interstitial disease with brain calcifications-2 (RILDBC2; {619013}), caused by mutation in the FARSA gene ({602918}).",[613658],[178506],"[Brain calcification, Rajab type]",[17082],,,,, +GARD:18298,Active,Orphanet+OMIM,OMIM:619013,Subtype of disorder,[Disease subtype],Rajab interstitial lung disease with brain calcifications 2,,"Rajab interstitial lung disease with brain calcifications-2 (RILDBC2) is an autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts ({1:Krenke et al., 2019}).\n\nFor a discussion of genetic heterogeneity of RILDBC, see RILDBC1 ({613658}).",[619013],[178506],"[Brain calcification, Rajab type]",[17082],,,,, +GARD:18299,Active,Orphanet+OMIM,OMIM:608203,Subtype of disorder,[Disease subtype],Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis,[Neutrophil immunodeficiency syndrome],"Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections. Laboratory studies show leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities. Neutrophils showed decreased chemotaxis associated with actin polymerization abnormalities, as well as variably impaired oxidative responses. Hematopoietic stem cell transplant may be curative (summary by {1:Accetta et al., 2011}; review by {3:Lougaris et al., 2020}).\n\nIn a review of autosomal forms of chronic granulomatous disease (see {306400} for genetic heterogeneity of CGD), {4:Roos et al. (2021)} noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity.",[608203],[183707],[Neutrophil immunodeficiency syndrome],[17087],,,,, +GARD:183,Legacy,GARD,,,,,,,,,,,,Bubonic plague,TRUE,FALSE,Active +GARD:18300,Active,Orphanet+OMIM,OMIM:618987,Subtype of disorder,[Disease subtype],Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia,,,[618987],[183707],[Neutrophil immunodeficiency syndrome],[17087],,,,, +GARD:18301,Active,Orphanet+OMIM,OMIM:115300,Subtype of disorder,[Disease subtype],"Hypercarotenemia and vitamin a deficiency, autosomal dominant",,"In hypercarotenemia and vitamin A deficiency (HCVAD), serum beta-carotene levels are very high, but serum vitamin A levels are low to low-normal. Yellow or orange discoloration of skin may be present (summary by {4:Lindqvist et al., 2007}).\n\nSee also {277350} for possible autosomal recessive inheritance.",[115300],[199285],[Hereditary hypercarotenemia and vitamin A deficiency],[17090],,,,, +GARD:18302,Active,Orphanet+OMIM,OMIM:277350,Subtype of disorder,[Disease subtype],"Hypercarotenemia and vitamin a deficiency, autosomal recessive",,,[277350],[199285],[Hereditary hypercarotenemia and vitamin A deficiency],[17090],,,,, +GARD:18303,Active,Orphanet+OMIM,OMIM:600625,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 11,"[Cleft lip with or without cleft palate, nonsyndromic, 11]","Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril ({1:Castilla and Martinez-Frias, 1995}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip with or without cleft palate, see OFC1 ({119530}).",[600625],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18304,Active,Orphanet+OMIM,OMIM:608864,Subtype of disorder,[Morphological anomaly subtype],"Orofacial cleft 6, susceptibility to","[Cleft lip with or without cleft palate, nonsyndromic, 6]","Orofacial cleft-6 (OFD6) is characterized by isolated cleft lip or cleft palate or by cleft lip and cleft palate ({5:Rahimov et al., 2008}; {4:Pan et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see {119530}.",[608864],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18305,Active,Orphanet+OMIM,OMIM:608874,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 5,"[Cleft lip with or without cleft palate, nonsyndromic, 5]",,[608874],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18306,Active,Orphanet+OMIM,OMIM:613705,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 10,"[Cleft lip with or without cleft palate, nonsyndromic, 10]",,[613705],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18307,Active,Orphanet+OMIM,OMIM:616788,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 15,,,[616788],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18308,Active,Orphanet+OMIM,OMIM:618149,Subtype of disorder,[Morphological anomaly subtype],Orofacial cleft 8,"[Cleft lip with or without cleft palate, nonsyndromic, 8]","Orofacial cleft-8 (OFC8) is characterized by unilateral or bilateral cleft lip ({2:Leoyklang et al., 2006}; {1:Basha et al., 2018}).",[618149],[199306],[Cleft lip/palate],[17092],,,,, +GARD:18309,Active,Orphanet+OMIM,OMIM:612900,Subtype of disorder,[Disease subtype],"Cerebral palsy, spastic quadriplegic, 2",,"Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development ({5:Hughes and Newton, 1992}). Cerebral palsy can be classified according to the type of movement disorder: spastic cerebral palsy accounts for approximately 60% of cases and can be subdivided into hemiplegic, diplegic, quadriplegic, and monoplegic types, whereas other forms include athetoid/dyskinetic, ataxic ({605388}), and mixed ({4:Gustavson et al., 1969}).\n\n<Subhead> Genetic Heterogeneity of Spastic Quadriplegic Cerebral Palsy\n\nSee also CPSQ3 ({617008}), caused by mutation in the ADD3 gene ({601568}) on 10q24.\n\nRelated phenotypes that were formerly classified in the CPSQ series include spastic paraplegia-47 (SPG47; 614066), spastic paraplegia-50 (SPG50; 612936), spastic paraplegia-51 (SPG51; 613744), spastic paraplegia-52 (SPG52; 614067), and neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA; {619026}).",[612900],[210141],[Inherited congenital spastic tetraplegia],[17109],,,,, +GARD:18310,Active,Orphanet+OMIM,OMIM:617008,Subtype of disorder,[Disease subtype],"Cerebral palsy, spastic quadriplegic, 3",,,[617008],[210141],[Inherited congenital spastic tetraplegia],[17109],,,,, +GARD:18311,Active,Orphanet+OMIM,OMIM:245590,Subtype of disorder,[Disease subtype],"Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive","[Laron syndrome due to postreceptor defect, growth hormone insensitivity due to postreceptor defect]","Autosomal recessive growth hormone insensitivity syndrome with immune dysregulation-1 (GHISID1) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; {139250}). Affected individuals usually have failure to thrive, delayed bone age, and delayed puberty associated with decreased serum IGF1 ({147440}), IGFBP3 ({146732}), and ALS ({601489}). Some patients may have dysmorphic features. Most, but not all, patients have features of immune dysregulation, including chronic pulmonary disease, interstitial pneumonitis, recurrent or severe infections, eczema, and autoimmune arthritis. The immune features are highly variable (summary by {7:Kofoed et al., 2003}; {10:Vidarsdottir et al., 2006}).\n\nSee {262500} for a form of growth hormone insensitivity caused by mutation in the growth hormone receptor gene (GHR; {600946}).",[245590],[220465],[Laron syndrome with immunodeficiency],[17133],,,,, +GARD:18312,Active,Orphanet+OMIM,OMIM:618985,Subtype of disorder,[Disease subtype],"Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant",,"Autosomal dominant growth hormone insensitivity syndrome with immune dysregulation-2 (GHISID2) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; {139250}). Affected individuals usually have delayed bone age, delayed puberty, and decreased serum IGF1 ({147440}). Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease (summary by {1:Klammt et al., 2018}).",[618985],[220465],[Laron syndrome with immunodeficiency],[17133],,,,, +GARD:18313,Active,Orphanet+OMIM,OMIM:603284,Subtype of disorder,[Malformation syndrome subtype],Cerebral cavernous malformations 2,,,[603284],[221061],[Familial cerebral cavernous malformation],[13641],,,,, +GARD:18314,Active,Orphanet+OMIM,OMIM:603285,Subtype of disorder,[Malformation syndrome subtype],Cerebral cavernous malformations 3,,,[603285],[221061],[Familial cerebral cavernous malformation],[13641],,,,, +GARD:18315,Active,Orphanet+OMIM,OMIM:500003,Subtype of disorder,[Disease subtype],"Striatonigral degeneration, infantile, mitochondrial","[Bilateral striatal necrosis, infantile, mitochondrial, infantile bilateral striatal necrosis, mitochondrial]",,[500003],[225154],[Familial infantile bilateral striatal necrosis],[17141],,,,, +GARD:18316,Active,Orphanet+OMIM,OMIM:619115,Subtype of disorder,[Disease subtype],Combined osteogenesis imperfecta and ehlers-danlos syndrome 1,[Oieds syndrome 1],"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-1 (OIEDS1) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by {2:Cabral et al., 2007}; {4:Malfait et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome\n\nAlso see OIEDS2 ({619120}), caused by mutation in the COL1A2 gene ({120160}) on chromosome 7q21.",[619115],[230857],[Ehlers-Danlos/osteogenesis imperfecta syndrome],[17156],,,,, +GARD:18317,Active,Orphanet+OMIM,OMIM:619120,Subtype of disorder,[Disease subtype],Combined osteogenesis imperfecta and ehlers-danlos syndrome 2,[Oieds syndrome 2],"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-2 (OIEDS2) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by {4:Raff et al., 2000} and {1:Malfait et al., 2013}).\n\nFor a discussion of genetic heterogeneity of combined osteogenesis imperfecta and Ehlers-Danlos syndrome, see {619115}.",[619120],[230857],[Ehlers-Danlos/osteogenesis imperfecta syndrome],[17156],,,,, +GARD:18318,Active,Orphanet+OMIM,OMIM:609322,Subtype of disorder,[Clinical subtype],Rhabdoid tumor predisposition syndrome 1,"[Brain tumor, posterior fossa, of infancy, familial]","The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors ({12:Sevenet et al., 1999}).\n\nRhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors ({1:Beckwith and Palmer, 1978}). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) ({10:Parham et al., 1994}). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT).\n\n<Subhead> Genetic Heterogeneity of Rhabdoid Tumor Predisposition Syndrome\n\nSee also RTPS2 ({613325}), caused by germline mutation in the SMARCA4 gene ({603254}) on chromosome 19p13.",[609322],[231108],[Familial rhabdoid tumor],[17159],,,,, +GARD:18319,Active,Orphanet+OMIM,OMIM:613325,Subtype of disorder,[Clinical subtype],Rhabdoid tumor predisposition syndrome 2,,"Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by {1:Foulkes et al., 2014}).\n\nSee also RTPS1 ({609322}), which is caused by mutation in the SMARCB1 gene ({601607}) on chromosome 22q11.",[613325],[231108],[Familial rhabdoid tumor],[17159],,,,, +GARD:1832,Legacy,GARD,,,,,,,,,,,,Diabetes hypogonadism deafness mental retardation,TRUE,FALSE,Retired +GARD:18320,Active,Orphanet+OMIM,OMIM:105800,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 1",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {16:Krischek and Inoue, 2006}).\n\n<Subhead> Genetic Heterogeneity of Intracranial Berry Aneurysm\n\nIntracranial berry aneurysm-1 (ANIB1) has been mapped to chromosome 7q11.2.\n\nOther mapped loci for intracranial berry aneurysm include ANIB2 ({608542}) on chromosome 19q13, ANIB3 ({609122}) on 1p36.13-p34.3, ANIB4 ({610213}) on 5p15.2-14.3, ANIB5 ({300870}) on Xp22, ANIB6 ({611892}) on 9p21, ANIB7 ({612161}) on 11q24-q25, ANIB8 ({612162}) on 14q23, ANIB9 ({612586}) on 2q, ANIB10 ({612587}) on 8q, and ANIB11 ({614252}) on 8p22. ANIB12 ({618734}) is caused by mutation in the THSD1 gene ({616821}).",[105800],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18321,Active,Orphanet+OMIM,OMIM:300870,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 5",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[300870],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18322,Active,Orphanet+OMIM,OMIM:609122,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 3",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {3:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[609122],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18323,Active,Orphanet+OMIM,OMIM:610213,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 4",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[610213],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18324,Active,Orphanet+OMIM,OMIM:611892,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 6",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {4:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[611892],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18325,Active,Orphanet+OMIM,OMIM:612161,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 7",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 (105800).",[612161],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18326,Active,Orphanet+OMIM,OMIM:612162,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 8",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800}).",[612162],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18327,Active,Orphanet+OMIM,OMIM:612586,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 9",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {3:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 ({105800}).",[612586],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18328,Active,Orphanet+OMIM,OMIM:612587,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 10",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {2:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 ({105800}).",[612587],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18329,Active,Orphanet+OMIM,OMIM:614252,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 11",,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {2:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 ({105800}).",[614252],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18330,Active,Orphanet+OMIM,OMIM:618734,Subtype of disorder,[Disease subtype],"Aneurysm, intracranial berry, 12",,"Rupture of an intracranial aneurysm (IA), an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage (SAH), a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).",[618734],[231160],[Familial cerebral saccular aneurysm],[17161],,,,, +GARD:18331,Active,Orphanet+OMIM,OMIM:203300,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 1,"[delta storage pool disease, Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells]","Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes ({19:Oh et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Hermansky-Pudlak Syndrome\n\nHPS2 ({608233}) is caused by mutation in the AP3B1 gene ({603401}) on chromosome 5q14. HPS3 ({614072}) is caused by mutation in the HSP3 gene ({606118}) on chromosome 3q24. HPS4 ({614073}) is caused by mutation in the HSP4 gene ({606682}) on chromosome 22q12. HPS5 ({614074}) is caused by mutation in the HPS5 gene ({607521}) on chromosome 11p14. HPS6 ({614075}) is caused by mutation in the HPS6 gene ({607522}) on chromosome 10q24. HPS7 ({614076}) is caused by mutation in the DTNBP1 gene ({607145}) on chromosome 6p22. HPS8 ({614077}) is caused by mutation in the BLOC1S3 gene ({609762}) on chromosome 19q13. HPS9 ({614171}) is caused by mutation in the PLDN gene ({604310}) on chromosome 15q21. HPS10 ({617050}) is caused by mutation in the AP3D1 gene ({607246}) on chromosome 19p13. HPS11 ({619172}) is caused by mutation in the BLOC1S5 gene ({607289}) on chromosome 6p24.",[203300],[231500],[Hermansky-Pudlak syndrome due to BLOC-3 deficiency],[17168],,,,, +GARD:18332,Active,Orphanet+OMIM,OMIM:614073,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 4,,"Hermansky-Pudlak syndrome-4 (HPS4) is characterized by oculocutaneous albinism in association with easy bruising or a bleeding tendency and absence of platelet dense bodies. Some patients also exhibit pulmonary fibrosis and/or granulomatous colitis ({1:Anderson et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300}).",[614073],[231500],[Hermansky-Pudlak syndrome due to BLOC-3 deficiency],[17168],,,,, +GARD:18333,Active,Orphanet+OMIM,OMIM:614072,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 3,,,[614072],[231512],[Hermansky-Pudlak syndrome due to BLOC-2 deficiency],[17169],,,,, +GARD:18334,Active,Orphanet+OMIM,OMIM:614074,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 5,,"Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients ({2:Ringeisen et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300}).",[614074],[231512],[Hermansky-Pudlak syndrome due to BLOC-2 deficiency],[17169],,,,, +GARD:18335,Active,Orphanet+OMIM,OMIM:614075,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 6,,,[614075],[231512],[Hermansky-Pudlak syndrome due to BLOC-2 deficiency],[17169],,,,, +GARD:18336,Active,Orphanet+OMIM,OMIM:614076,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 7,,,[614076],[231531],[Hermansky-Pudlak syndrome due to BLOC-1 deficiency],[17170],,,,, +GARD:18337,Active,Orphanet+OMIM,OMIM:614077,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 8,,,[614077],[231531],[Hermansky-Pudlak syndrome due to BLOC-1 deficiency],[17170],,,,, +GARD:18338,Active,Orphanet+OMIM,OMIM:614171,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 9,,,[614171],[231531],[Hermansky-Pudlak syndrome due to BLOC-1 deficiency],[17170],,,,, +GARD:18339,Active,Orphanet+OMIM,OMIM:619172,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 11,,"Hermansky-Pudlak syndrome-11 (HPS11) is characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis. Patients lack detectable platelet dense granules, and show mildly impaired activation-induced ATP release and platelet aggregation in vitro ({1:Pennamen et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300}).",[619172],[231531],[Hermansky-Pudlak syndrome due to BLOC-1 deficiency],[17170],,,,, +GARD:18340,Active,Orphanet+OMIM,OMIM:607748,Subtype of disorder,[Disease subtype],"Hypercholanemia, familial 1","[Bile acid, elevated serum]","Familial hypercholanemia-1 (FHCA1) is an autosomal recessive disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins. Vitamin D deficiency results in rickets, and vitamin K deficiency results in a coagulopathy ({2:Morton et al., 2000}; {3:Shneider et al., 1997}; summary by {1:Carlton et al., 2003}).\n\nSee also bile acid conjugation defect-1 (BACD1; {619232}), which can also show increased bile acid levels, although the bile acids in BACD1 are unconjugated.\n\n<Subhead> Genetic Heterogeneity of FHCA\n\nSee FHCA2 ({619256}), caused by mutation in the SLC10A1 gene ({182396}) on chromosome 14q24.",[607748],[238475],[Familial hypercholanemia],[17173],,,,, +GARD:18341,Active,Orphanet+OMIM,OMIM:619256,Subtype of disorder,[Disease subtype],"Hypercholanemia, familial, 2",[Ntcp deficiency],"Familial hypercholanemia-2 (FHCA2) is an autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy. Most patients are asymptomatic and have no liver dysfunction, although some neonates may have transient jaundice or transiently elevated liver enzymes. These abnormalities improve with age. The bile acid defect can result in impaired absorption of fat-soluble vitamins, including D and K, causing decreased bone mineral density or prolonged prothrobin time (PT) (summary by {1:Deng et al., 2016} and {3:Liu et al., 2017}).\n\nFor a discussion of genetic heterogeneity of FHCA, see FHCA1 ({607748}).",[619256],[238475],[Familial hypercholanemia],[17173],,,,, +GARD:18342,Active,Orphanet+OMIM,OMIM:612567,Subtype of disorder,[Disease subtype],"Inflammatory bowel disease 25, autosomal recessive","[Inflammatory bowel disease, early-onset, autosomal recessive]",,[612567],[238569],[Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome],[13016],,,,, +GARD:18343,Active,Orphanet+OMIM,OMIM:613148,Subtype of disorder,[Disease subtype],"Inflammatory bowel disease 28, autosomal recessive","[Inflammatory bowel disease, early-onset, autosomal recessive]",,[613148],[238569],[Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome],[13016],,,,, +GARD:18344,Active,Orphanet+OMIM,OMIM:609454,Subtype of disorder,[Clinical subtype],"Supranuclear palsy, progressive, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 ({601104}).",[609454],[240071],[Classic progressive supranuclear palsy syndrome],[17182],,,,, +GARD:18345,Active,Orphanet+OMIM,OMIM:610898,Subtype of disorder,[Clinical subtype],"Supranuclear palsy, progressive, 3",,"For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 ({601104}).",[610898],[240071],[Classic progressive supranuclear palsy syndrome],[17182],,,,, +GARD:18346,Active,Orphanet+OMIM,OMIM:612286,Subtype of disorder,[Disease subtype],"Nephrolithiasis/osteoporosis, hypophosphatemic, 1",,,[612286],[244305],[Dominant hypophosphatemia with nephrolithiasis or osteoporosis],[17186],,,,, +GARD:18347,Active,Orphanet+OMIM,OMIM:612287,Subtype of disorder,[Disease subtype],"Nephrolithiasis/osteoporosis, hypophosphatemic, 2",,,[612287],[244305],[Dominant hypophosphatemia with nephrolithiasis or osteoporosis],[17186],,,,, +GARD:18348,Active,Orphanet+OMIM,OMIM:615851,Subtype of disorder,[Disease subtype],"Pontocerebellar hypoplasia, type 2e",,"Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by {2:Feinstein et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A ({277470}).",[615851],[247198],[Progressive cerebello-cerebral atrophy],[17187],,,,, +GARD:18349,Active,Orphanet+OMIM,OMIM:239300,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 1,"[Mabry syndrome, glycosylphosphatidylinositol biosynthesis defect 2]","Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by {4:Krawitz et al., 2010}). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 ({610293}).\n\n<Subhead> Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation Syndrome\n\nSee also HPMRS2 ({614749}), caused by mutation in the PIGO gene ({614730}) on chromosome 9p13; HPMRS3 ({614207}), caused by mutation in the PGAP2 gene ({615187}) on chromosome 11p15; HPMRS4 ({615716}), caused by mutation in the PGAP3 gene ({611801}) on chromosome 17q12; HPMRS5 ({616025}), caused by mutation in the PIGW gene ({610275}) on chromosome 17q12; and HPMRS6 ({616809}), caused by mutation in the PIGY gene ({610662}) on chromosome 4q22.\n\n{3:Knaus et al. (2018)} provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. {3:Knaus et al. (2018)} concluded that a distinction between HPMRS and MCAHS (see, e.g., {614080}), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).",[239300],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18350,Active,Orphanet+OMIM,OMIM:614207,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 3,"[Mental retardation, autosomal recessive 17, glycosylphosphatidylinositol biosynthesis defect 8, mental retardation, autosomal recessive 21]","Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by {2:Hansen et al., 2013}). However, the severity of the disorder can also vary to include milder intellectual disability ({3:Krawitz et al., 2013}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of HPMRS, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[614207],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18351,Active,Orphanet+OMIM,OMIM:614749,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 2,[Glycosylphosphatidylinositol biosynthesis defect 6],"Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by {1:Krawitz et al., 2012}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of hyperphosphatasia with mental retardation syndrome, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[614749],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18352,Active,Orphanet+OMIM,OMIM:615716,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 4,[Glycosylphosphatidylinositol biosynthesis defect 10],"Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by {3:Howard et al., 2014}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of HPMRS, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[615716],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18353,Active,Orphanet+OMIM,OMIM:616025,Subtype of disorder,[Disease subtype],Glycosylphosphatidylinositol biosynthesis defect 11,[Hyperphosphatasia with mental retardation syndrome 5],"GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by {2:Hogrebe et al., 2016}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[616025],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18354,Active,Orphanet+OMIM,OMIM:616809,Subtype of disorder,[Disease subtype],Hyperphosphatasia with mental retardation syndrome 6,[Glycosylphosphatidylinositol biosynthesis defect 12],"Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by {1:Ilkovski et al., 2015}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of HPMRS, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[616809],[247262],[Hyperphosphatasia-intellectual disability syndrome],[17188],,,,, +GARD:18355,Active,Orphanet+OMIM,OMIM:609820,Subtype of disorder,[Disease subtype],"Erythrocytosis, familial, 3",,,[609820],[247511],[Autosomal dominant secondary polycythemia],[17189],,,,, +GARD:18356,Active,Orphanet+OMIM,OMIM:611783,Subtype of disorder,[Disease subtype],"Erythrocytosis, familial, 4",,"Familial erythrocytosis-4 (ECYT4) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration as well as elevated serum erythropoietin (EPO; {133170}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 ({133100}).",[611783],[247511],[Autosomal dominant secondary polycythemia],[17189],,,,, +GARD:18357,Active,Orphanet+OMIM,OMIM:617626,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 5","[fibromatosis, gingival, hereditary, 5, Ggf5]","Gingival fibromatosis-5 is an autosomal dominant benign overgrowth disorder characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues. Affected individuals may have diastema, malposition of the teeth, and prolonged retention of primary teeth. Onset is in the first decade. Treatment by surgical resection is generally followed by regrowth of the gingival tissues (summary by {2:Pehlivan et al., 2009}).",[617626],[2024],[Hereditary gingival fibromatosis],[16582],,,,, +GARD:18358,Active,Orphanet+OMIM,OMIM:614134,Subtype of disorder,[Clinical subtype],"Stickler syndrome, type iv",,,[614134],[250984],[Autosomal recessive Stickler syndrome],[17203],,,,, +GARD:18359,Active,Orphanet+OMIM,OMIM:614284,Subtype of disorder,[Clinical subtype],"Stickler syndrome, type v",,,[614284],[250984],[Autosomal recessive Stickler syndrome],[17203],,,,, +GARD:18360,Active,Orphanet+OMIM,OMIM:615542,Subtype of disorder,[Malformation syndrome subtype],Testicular anomalies with or without congenital heart disease,,,[615542],[251510],"[46,XY partial gonadal dysgenesis]",[17211],,,,, +GARD:18361,Active,Orphanet+OMIM,OMIM:616067,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 9","[46,xy sex reversal, zfpm2-related]",,[616067],[251510],"[46,XY partial gonadal dysgenesis]",[17211],,,,, +GARD:18362,Active,Orphanet+OMIM,OMIM:619096,Subtype of disorder,[Disease subtype],Mismatch repair cancer syndrome 2,,"Mismatch repair cancer syndrome-2 (MMRCS2) is an autosomal recessive childhood cancer predisposition syndrome characterized by hematologic malignancy, brain tumors, and gastrointestinal tumors. Multiple cafe-au-lait spots reminiscent of neurofibromatosis type I (NF1; {162200}) may be present. Microsatellite instability may be detected in tumor samples ({2:Muller et al., 2006}).\n\nFor a discussion of genetic heterogeneity of mismatch repair cancer syndrome (MMRCS), see MMRCS1 ({276300}).",[619096],[252202],[Constitutional mismatch repair deficiency syndrome],[17217],,,,, +GARD:18363,Active,Orphanet+OMIM,OMIM:619097,Subtype of disorder,[Disease subtype],Mismatch repair cancer syndrome 3,,"Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; {162200}) may be present ({2:Hegde et al., 2005}, {4:Ostergaard et al., 2005}). Microsatellite instability may be detected in tumor samples ({2:Hegde et al., 2005}).\n\nFor a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 ({276300}).",[619097],[252202],[Constitutional mismatch repair deficiency syndrome],[17217],,,,, +GARD:18364,Active,Orphanet+OMIM,OMIM:619101,Subtype of disorder,[Disease subtype],Mismatch repair cancer syndrome 4,,"Mismatch repair cancer syndrome-4 (MMRCS4) is an autosomal recessive childhood cancer predisposition syndrome characterized by early-onset leukemia/lymphoma, brain tumors, colorectal/gastrointestinal cancers, and other rare malignancies, including rhabdomyosarcoma (summary by {11:Li et al., 2015}). Cafe-au-lait spots are usually present ({4:De Vos et al., 2006}).\n\nFor a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 ({276300}).",[619101],[252202],[Constitutional mismatch repair deficiency syndrome],[17217],,,,, +GARD:18365,Active,Orphanet+OMIM,OMIM:231090,Subtype of disorder,[Clinical subtype],"Hydatidiform mole, recurrent, 1","[Hydatidiform mole, hydatidiform mole, complete, gestational trophoblastic disease]","A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by {6:Fallahian et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Recurrent Hydatidiform Mole\n\nAnother form of recurrent complete hydatidiform mole (HYDM2; {614293}) is caused by mutation in the KHDC3L gene ({611687}) on chromosome 6q13. HYDM3 ({618431}) is caused by mutation in the MEI1 gene ({608797}) on chromosome 22q13. HYDM4 ({618432}) is caused by mutation in the C11ORF80 gene ({616109}) on chromosome 11q13.",[231090],[254688],[Complete hydatidiform mole],[17224],,,,, +GARD:18366,Active,Orphanet+OMIM,OMIM:614293,Subtype of disorder,[Clinical subtype],"Hydatidiform mole, recurrent, 2","[Hydatidiform mole, complete]","A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by {1:Fallahian et al., 2013}).\n\nFor a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 ({231090}).",[614293],[254688],[Complete hydatidiform mole],[17224],,,,, +GARD:18367,Active,Orphanet+OMIM,OMIM:618431,Subtype of disorder,[Clinical subtype],"Hydatidiform mole, recurrent, 3",,"Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes (summary by {1:Nguyen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 ({231090}).",[618431],[254688],[Complete hydatidiform mole],[17224],,,,, +GARD:18368,Active,Orphanet+OMIM,OMIM:618432,Subtype of disorder,[Clinical subtype],"Hydatidiform mole, recurrent, 4",,"Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes (summary by {1:Nguyen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 ({231090}).",[618432],[254688],[Complete hydatidiform mole],[17224],,,,, +GARD:18369,Active,Orphanet+OMIM,OMIM:609560,Subtype of disorder,[Disease subtype],Mitochondrial dna depletion syndrome 2 (myopathic type),"[Mitochondrial dna depletion myopathy, tk2-related]","Mitochondrial DNA depletion syndrome-2 is an autosomal recessive disorder characterized primarily by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later childhood onset of a slowly progressive myopathy ({10:Oskoui et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 ({603041}).",[609560],[254875],"[Mitochondrial DNA depletion syndrome, myopathic form]",[17228],,,,, +GARD:18370,Active,Orphanet+OMIM,OMIM:618972,Subtype of disorder,[Disease subtype],Mitochondrial dna depletion syndrome 19,,,[618972],[254875],"[Mitochondrial DNA depletion syndrome, myopathic form]",[17228],,,,, +GARD:18371,Active,Orphanet+OMIM,OMIM:618235,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 13",,,[618235],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18372,Active,Orphanet+OMIM,OMIM:618239,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 17",,,[618239],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18373,Active,Orphanet+OMIM,OMIM:618243,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 22",,,[618243],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18374,Active,Orphanet+OMIM,OMIM:618244,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 23",,"Mitochondrial complex I deficiency nuclear type 23 (MC1DN23) is an autosomal recessive nuclear-encoded mitochondrial disease with clinical presentations ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI findings may include basal ganglia abnormalities or optic atrophy (summary by {1:Magrinelli et al., 2022}).",[618244],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18375,Active,Orphanet+OMIM,OMIM:618248,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 27",,,[618248],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18376,Active,Orphanet+OMIM,OMIM:618249,Subtype of disorder,[Disease subtype],"Mitochondrial complex i deficiency, nuclear type 28",,,[618249],[255241],[Leigh syndrome with leukodystrophy],[17238],,,,, +GARD:18377,Active,Orphanet+OMIM,OMIM:618257,Subtype of disorder,"[Etiological subtype, Disease subtype]","Deafness, autosomal recessive 112",,"DFNB112 is characterized by postlingual progressive sensorineural hearing impairment ({1:Girotto et al., 2013}).",[618257],"[255241, 90636]","[Autosomal recessive non-syndromic sensorineural deafness type DFNB, Leigh syndrome with leukodystrophy]","[17238, 18644]",,,,, +GARD:18378,Active,Orphanet+OMIM,OMIM:607426,Subtype of disorder,[Disease subtype],"Coenzyme q10 deficiency, primary, 1","[coenzyme q deficiency 1, ubiquinone deficiency 1, coq deficiency 1, Coq10 deficiency, primary, 1]","Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by {10:Quinzii and Hirano, 2011}). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain ({4:Duncan et al., 2009}).\n\nThe disorder has been associated with 4 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia ({9:Ogasahara et al., 1989}); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure ({14:Rotig et al., 2000}); a predominantly cerebellar form with ataxia and cerebellar atrophy ({6:Lamperti et al., 2003}); and Leigh syndrome with growth retardation ({17:van Maldergem et al., 2002}). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment.\n\n<Subhead> Genetic Heterogeneity of Primary Coenzyme Q10 Deficiency\n\nSee also COQ10D2 ({614651}), caused by mutation in the PDSS1 gene ({607429}) on chromosome 10p12; COQ10D3 ({614652}), caused by mutation in the PDSS2 gene ({610564}) on chromosome 6q21; COQ10D4 ({612016}), caused by mutation in the COQ8 gene (ADCK3; {606980}) on chromosome 1q42; COQ10D5 ({614654}), caused by mutation in the COQ9 gene ({612837}) on chromosome 16q21; COQ10D6 ({614650}), caused by mutation in the COQ6 gene ({614647}) on chromosome 14q24; COQ10D7 ({616276}), caused by mutation in the COQ4 gene ({612898}) on chromosome 9q34; COQ10D8 ({616733}), caused by mutation in the COQ7 gene ({601683}) on chromosome 16p13; and COQ10D9 ({619028}), caused by mutation in the COQ5 gene ({616359}) on chromosome 12q24.\n\nSecondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD; {231680}), caused by mutation in the ETFDH gene ({231675}) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1; {208920}), caused by mutation in the APTX gene ({606350}) on chromosome 9p13.",[607426],[255249],[Leigh syndrome with nephrotic syndrome],[17239],,,,, +GARD:18379,Active,Orphanet+OMIM,OMIM:614652,Subtype of disorder,[Disease subtype],"Coenzyme q10 deficiency, primary, 3",,,[614652],[255249],[Leigh syndrome with nephrotic syndrome],[17239],,,,, +GARD:18380,Active,Orphanet+OMIM,OMIM:182170,Subtype of disorder,[Disease subtype],"Anemia, sideroblastic, 4",,"Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if present, may be microcytic or macrocytic. Sometimes a dimorphic picture is observed in which 2 populations of erythrocytes can be detected in peripheral blood smears. The presence of ringed sideroblasts (erythroblasts containing pathologic mitochondrial iron deposits) in bone marrow is pathognomonic for sideroblastic anemia ({3:van Waveren Hogervorst et al., 1987}; {2:Schmitz-Abe et al., 2015}).\n\nFor a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 ({300751}).",[182170],[260305],[Autosomal recessive sideroblastic anemia],[17240],,,,, +GARD:18381,Active,Orphanet+OMIM,OMIM:205950,Subtype of disorder,[Disease subtype],"Anemia, sideroblastic, 2, pyridoxine-refractory",,,[205950],[260305],[Autosomal recessive sideroblastic anemia],[17240],,,,, +GARD:18382,Active,Orphanet+OMIM,OMIM:617768,Subtype of disorder,[Etiological subtype],Kleefstra syndrome 2,,"Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by {3:Koemans et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 ({610253}).",[617768],[261652],[Kleefstra syndrome due to a point mutation],[17253],,,,, +GARD:18383,Active,Orphanet+OMIM,OMIM:619082,Subtype of disorder,[Disease subtype],"Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1",,"Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1) is characterized by poor visual acuity in early childhood. Congenital cataract and microcornea are followed by rod-cone dystrophy, with later development of posterior staphyloma ({1:Cai et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma\n\nMRCS2 (see {193220}) is caused by mutation in the BEST1 gene ({607854}) on chromosome 11q12; 1 such family has been reported.",[619082],[263347],[MRCS syndrome],[17255],,,,, +GARD:18384,Active,Orphanet+OMIM,OMIM:614212,Subtype of disorder,[Disease subtype],"Encephalopathy, acute, infection-induced, susceptibility to, 4",,"Acute encephalopathy is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder (summary by {1:Chen et al., 2005}; {4:Shinohara et al., 2011}).\n\nFor a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see {610551}.",[614212],[263524],[Acute necrotizing encephalopathy of childhood],[17257],,,,, +GARD:18385,Active,Orphanet+OMIM,OMIM:607174,Subtype of disorder,[Disease subtype],"Meningioma, familial, susceptibility to",,"Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare ({58:Zang, 2001}).\n\nFamilial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis ({162091}), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2; {613028}) associated with a mutation in the PTEN gene ({601728}) developed a meningioma ({51:Staal et al., 2002}).",[607174],[263662],[Familial multiple meningioma],[17260],,,,, +GARD:18386,Active,Orphanet+OMIM,OMIM:306000,Subtype of disorder,[Disease subtype],Glycogen storage disease ixa1,"[gsd viii, formerly, glycogen storage disease viii, formerly, Liver glycogenosis, x-linked, type i]","Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB; {172490}), gamma (PHKG2; {172471}), and delta (CALM1; {114180}). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B ({261750}), and GSD9C ({613027}), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive.\n\nGSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes ({22:Keating et al., 1985}; {10:Hendrickx et al., 1994}; {1:Beauchamp et al., 2007}).\n\nSee also X-linked muscle PHK deficiency (GSD9D; {300559}), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1; {311870}).",[306000],[264580],[Glycogen storage disease due to liver phosphorylase kinase deficiency],[17261],,,,, +GARD:18387,Active,Orphanet+OMIM,OMIM:613027,Subtype of disorder,[Disease subtype],Glycogen storage disease ixc,[Gsd ixc],"Glycogen storage disease IXc (GSD9C) is characterized by onset in childhood of hepatomegaly, hypotonia, growth retardation in childhood, and liver dysfunction. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis ({4:Burwinkel et al., 1998}).\n\nFor a general description and a discussion of genetic heterogeneity of GSD IX, see GSD9A ({306000}).",[613027],[264580],[Glycogen storage disease due to liver phosphorylase kinase deficiency],[17261],,,,, +GARD:18388,Active,Orphanet+OMIM,OMIM:615135,Subtype of disorder,[Clinical subtype],"Maple syrup urine disease, mild variant",,"The mild variant of MSUD is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes; however, plasma levels of BCAA may remain elevated (summary by {2:Oyarzabal et al., 2013}).\n\nFor a general description and a discussion of genetic heterogeneity of maple syrup urine disease, see {248600}.",[615135],[268162],[Intermediate maple syrup urine disease],[17264],,,,, +GARD:18389,Active,Orphanet+OMIM,OMIM:189800,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 1,"[Preg1, pee, toxemia of pregnancy]","Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by {40:Payne et al., 2011}).\n\nPreeclampsia is otherwise known as gestational proteinuric hypertension ({16:Davey and MacGillivray, 1988}). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition ({19:Fisher et al., 1981}). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) ({9:Brown et al., 2000}).\n\n<Subhead> Genetic Heterogeneity of Preeclampsia/Eclampsia\n\nSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 ({609402}) on chromosome 2p25, and PEE3 ({609403}) on chromosome 9p13. PEE4 ({609404}) is caused by mutation in the STOX1 gene ({609397}) on chromosome 10q22. PEE5 ({614595}) is caused by mutation in the CORIN gene ({605236}) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene ({132810}) on chromosome 1q.",[189800],[275555],[Preeclampsia],[12924],,,,, +GARD:1839,Active,Orphanet,ORPHA:99886,Disorder,[Disease],Transient neonatal diabetes mellitus,[TNDM],"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.","[610374, 610582, 601410]",,,,,Transient neonatal diabetes mellitus,TRUE,FALSE,Active +GARD:18390,Active,Orphanet+OMIM,OMIM:609402,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 2,,"For a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia, see PEE1 ({189800}).",[609402],[275555],[Preeclampsia],[12924],,,,, +GARD:18391,Active,Orphanet+OMIM,OMIM:609403,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 3,,"For a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia, see PEE1 ({189800}).",[609403],[275555],[Preeclampsia],[12924],,,,, +GARD:18392,Active,Orphanet+OMIM,OMIM:609404,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 4,,,[609404],[275555],[Preeclampsia],[12924],,,,, +GARD:18393,Active,Orphanet+OMIM,OMIM:614595,Subtype of disorder,[Disease subtype],Preeclampsia/eclampsia 5,,"Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by {2:Payne et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia/eclampsia, see PEE1 ({189800}).",[614595],[275555],[Preeclampsia],[12924],,,,, +GARD:18394,Active,Orphanet+OMIM,OMIM:615342,Subtype of disorder,[Etiological subtype],"Pulmonary hypertension, primary, 2",,,[615342],[275777],[Heritable pulmonary arterial hypertension],[11914],,,,, +GARD:18395,Active,Orphanet+OMIM,OMIM:619132,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 8,,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-8 (FTDALS8) is an autosomal dominant neurodegenerative disorder characterized by adult-onset dementia manifest as memory impairment, executive dysfunction, and behavioral or personality changes. Some patients may develop ALS or parkinsonism. Neuropathologic studies show frontotemporal lobar degeneration (FTLD) with tau (MAPT; {157140})- and TDP43 ({605078})-immunoreactive inclusions (summary by {1:Dobson-Stone et al., 2020}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[619132],[275864],[Behavioral variant of frontotemporal dementia],[7392],,,,, +GARD:18396,Active,Orphanet+OMIM,OMIM:105550,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 1,"[amyotrophic lateral sclerosis and/or frontotemporal dementia, frontotemporal dementia and/or motor neuron disease, Frontotemporal dementia and/or amyotrophic lateral sclerosis]","Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) is an autosomal dominant neurodegenerative disorder characterized by adult onset of one or both of these features in an affected individual, with significant intrafamilial variation. The disorder is genetically and pathologically heterogeneous (summary by {54:Vance et al., 2006}). Patients with C9ORF72 repeat expansions tend to show a lower age of onset, shorter survival, bulbar symptom onset, increased incidence of neurodegenerative disease in relatives, and a propensity toward psychosis or hallucinations compared to patients with other forms of ALS and/or FTD (summary by {17:Harms et al., 2013}). Patients with C9ORF72 repeat expansions also show psychiatric disturbances that may predate the onset of dementia ({31:Meisler et al., 2013}; {15:Gomez-Tortosa et al., 2013}).\n\n{41:Ranganathan et al. (2020)} provided a detailed review of the genes involved in different forms of FTDALS, noting that common disease pathways involve disturbances in RNA processing, autophagy, the ubiquitin proteasome system, the unfolded protein response, and intracellular trafficking. The current understanding of ALS and FTD is that some forms of these disorders represent a spectrum of disease with converging mechanisms of neurodegeneration.\n\nFor a general phenotypic description of frontotemporal dementia, also known as frontotemporal lobar degeneration (FTLD), see {600274}. For a general discussion of motor neuron disease (MND), see amyotrophic lateral sclerosis-1 (ALS1; {105400}).\n\n<Subhead> Genetic Heterogeneity of Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis\n\nSee also FTDALS2 ({615911}), caused by mutation in the CHCHD10 gene ({615903}) on chromosome 22q11; FTDALS3 ({616437}), caused by mutation in the SQSTM1 gene ({601530}) on chromosome 5q35; FTDALS4 ({616439}), caused by mutation in the TBK1 gene ({604834}) on chromosome 12q14; FTDALS5 ({619141}), caused by mutation in the CCNF gene ({600227}) on chromosome 16p13; FTDALS6 ({613954}), caused by mutation in the VCP gene ({601023}) on chromosome 9p13; FTDALS7 ({600795}), caused by mutation in the CHMP2B gene ({609512}) on chromosome 3p11; and FTDALS8 ({619132}), caused by mutation in the CYLD gene ({605018}) on chromosome 16q12.",[105550],[275872],[Frontotemporal dementia with motor neuron disease],[17273],,,,, +GARD:18397,Active,Orphanet+OMIM,OMIM:615911,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,,,[615911],[275872],[Frontotemporal dementia with motor neuron disease],[17273],,,,, +GARD:18398,Active,Orphanet+OMIM,OMIM:616439,Subtype of disorder,[Disease subtype],Frontotemporal dementia and/or amyotrophic lateral sclerosis 4,,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. The phenotype is highly variable (summary by {2:Freischmidt et al., 2015}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550}).",[616439],[275872],[Frontotemporal dementia with motor neuron disease],[17273],,,,, +GARD:18399,Active,Orphanet+OMIM,OMIM:606766,Subtype of disorder,[Disease subtype],Spermatogenic failure 3,,"In spermatogenic failure-3 (SPGF3), primary infertility is associated with nonobstructive asthenozoospermia ({1:Dirami et al., 2013}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[606766],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:184,Active,Orphanet,ORPHA:662,Disorder,[Disease],Yellow nail syndrome,"[Lymphedema with yellow nails, YNS]","A rare, syndromic nail anomaly disease characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.",[153300],,,,,Yellow nail syndrome,TRUE,FALSE,Active +GARD:1840,Legacy,GARD,,,,,,,,,,,,Diabetes persistent mullerian ducts,TRUE,FALSE,Active +GARD:18400,Active,Orphanet+OMIM,OMIM:612997,Subtype of disorder,[Disease subtype],Spermatogenic failure 7,"[Male infertility, nonsyndromic, autosomal recessive]",,[612997],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18401,Active,Orphanet+OMIM,OMIM:614822,Subtype of disorder,[Disease subtype],Spermatogenic failure 10,[Spermatogenic failure with defective sperm annulus],"Spermatogenic failure-10 is associated with a defective annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The firm attachment of the annulus to the flagellar membrane suggests that it may supply mechanical support and prevent displacement of the caudal mitochondrial helix (summary by {1:Kuo et al., 2012}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[614822],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18402,Active,Orphanet+OMIM,OMIM:617576,Subtype of disorder,[Disease subtype],Spermatogenic failure 18,,"Spermatogenic failure-18 is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella ({2:Ben Khelifa et al., 2014}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617576],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18403,Active,Orphanet+OMIM,OMIM:617592,Subtype of disorder,[Disease subtype],Spermatogenic failure 19,,"Spermatogenic failure-19 is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella ({3:Tang et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617592],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18404,Active,Orphanet+OMIM,OMIM:617593,Subtype of disorder,[Disease subtype],Spermatogenic failure 20,,"Spermatogenic failure-20 is characterized by multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella ({3:Tang et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617593],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18405,Active,Orphanet+OMIM,OMIM:617965,Subtype of disorder,[Disease subtype],Spermatogenic failure 27,,"Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization ({1:Lores et al., 2018}).\n\nFor a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[617965],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18406,Active,Orphanet+OMIM,OMIM:618152,Subtype of disorder,[Disease subtype],Spermatogenic failure 33,,"Spermatogenic failure-33 (SPGF33) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Short and irregular-caliber flagella are primarily observed, as well as absent and coiled flagella, and abnormalities of the acrosome, head, and base are also present ({2:Kherraf et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618152],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18407,Active,Orphanet+OMIM,OMIM:618153,Subtype of disorder,[Disease subtype],Spermatogenic failure 34,,"Spermatogenic failure-34 (SPGF34) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Irregular-caliber, short, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of the axoneme are also present ({1:Martinez et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618153],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18408,Active,Orphanet+OMIM,OMIM:618429,Subtype of disorder,[Disease subtype],Spermatogenic failure 37,,"Spermatogenic failure-37 (SPGF37) is characterized by primary male infertility with asthenoteratozoospermia. Spermatozoa exhibit severely reduced motility due to multiple morphologic abnormalities of the flagella (MMAF), primarily consisting of short or absent flagella. Neck defects at the head-tail junction are frequently seen ({1:Liu et al., 2019}).\n\nFor a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618429],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18409,Active,Orphanet+OMIM,OMIM:618433,Subtype of disorder,[Disease subtype],Spermatogenic failure 38,,"Spermatogenic failure-38 (SPGF38) is characterized by primary infertility and asthenoteratozoospermia due to multiple morphologic abnormalities of the flagella (MMAF). Spermatozoa show total sperm motility below 10% and exhibit morphologic anomalies including short, absent, coiled, bent, or irregular-caliber flagella ({1:Coutton et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618433],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18410,Active,Orphanet+OMIM,OMIM:618643,Subtype of disorder,[Disease subtype],Spermatogenic failure 39,,"Spermatogenic failure-39 (SPGF39) is characterized by infertility due to asthenozoospermia. Patient spermatozoa exhibit multiple morphologic anomalies of the sperm flagellum (MMAF), including short, absent, irregularly shaped, and coiled flagella; abnormalities of the sperm head and midpiece have also been observed. Ultrastructural analysis shows a lack of the outer dynein arms (ODAs) in sperm cells ({2:Whitfield et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618643],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18411,Active,Orphanet+OMIM,OMIM:618664,Subtype of disorder,[Disease subtype],Spermatogenic failure 40,,"Spermatogenic failure-40 (SPGF40) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Patient spermatozoa may also show morphologic defects of the sperm head, with acrosomal hypoplasia or aplasia ({4:Wang et al., 2019}; {2:Li et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618664],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18412,Active,Orphanet+OMIM,OMIM:618670,Subtype of disorder,[Disease subtype],Spermatogenic failure 41,,"Spermatogenic failure-41 (SPGF41) is characterized by infertility due to multiple morphologic abnormalities of the flagella (MMAF). Patient semen analysis has also shown oligozoospermia, and the flagellar abnormalities include short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities ({1:Beurois et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618670],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18413,Active,Orphanet+OMIM,OMIM:618745,Subtype of disorder,[Disease subtype],Spermatogenic failure 42,,"Spermatogenic failure-42 (SPGF42) is characterized by infertility and spermatozoa with almost no progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece ({3:Lores et al., 2019}; {2:Liu et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618745],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18414,Active,Orphanet+OMIM,OMIM:618751,Subtype of disorder,[Disease subtype],Spermatogenic failure 43,,"Spermatogenic failure-43 (SPGF43) is characterized by infertility and spermatozoa lacking progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Most flagella lack the central pair (9+0 configuration) on ultrastructural analysis ({3:Liu et al., 2019}; {4:Sha et al., 2019}; {2:Liu et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[618751],[276234],[Non-syndromic male infertility due to sperm motility disorder],[17277],,,,, +GARD:18415,Active,Orphanet+OMIM,OMIM:600081,Subtype of disorder,[Disease subtype],"Vitamin d hydroxylation-deficient rickets, type 1b","[Vitamin d-dependent rickets, type 1b, 25-hydroxyvitamin d3 deficiency, selective, pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency]","Vitamin D hydroxylation-deficient rickets type 1B (VDDR1B) is caused by a defect in vitamin D 25-hydroxylation ({5:Molin et al., 2017}). The major function of vitamin D is to maintain calcium and phosphate levels in the normal range to support metabolic functions, neuromuscular transmission, and bone mineralization. Disorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia (summary by {4:Liberman and Marx, 2001}).",[600081],[289157],[Hypocalcemic vitamin D-dependent rickets],[17319],,,,, +GARD:18416,Active,Orphanet+OMIM,OMIM:241520,Subtype of disorder,[Disease subtype],"Hypophosphatemic rickets, autosomal recessive, 1","[hypophosphatemia, autosomal recessive, Arhr]",,[241520],[289176],[Autosomal recessive hypophosphatemic rickets],[17320],,,,, +GARD:18417,Active,Orphanet+OMIM,OMIM:613312,Subtype of disorder,[Disease subtype],"Hypophosphatemic rickets, autosomal recessive, 2",,,[613312],[289176],[Autosomal recessive hypophosphatemic rickets],[17320],,,,, +GARD:18418,Active,Orphanet+OMIM,OMIM:193000,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 1,,"Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by {16:Lu et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Vesicoureteral Reflux\n\nA locus designated VUR1 maps to chromosome 1p13. VUR2 ({610878}) is caused by mutation in the ROBO2 gene ({602431}) on chromosome 3p12; VUR3 ({613674}) is caused by mutation in the SOX17 gene ({610928}) on chromosome 8q11; VUR4 ({614317}) maps to chromosome 5; VUR5 ({614318}) maps to chromosome 13; VUR6 ({614319}) maps to chromosome 18; VUR7 ({615390}) maps to chromosome 12; and VUR8 ({615963}) is caused by mutation in the TNXB gene ({600985}) on chromosome 6p21. A possible X-linked form has been reported (VURX; {314550}).",[193000],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18419,Active,Orphanet+OMIM,OMIM:610878,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 2,,,[610878],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18420,Active,Orphanet+OMIM,OMIM:613674,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 3,,,[613674],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18421,Active,Orphanet+OMIM,OMIM:614317,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 4,,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 ({193000}).",[614317],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18422,Active,Orphanet+OMIM,OMIM:614318,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 5,,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 ({193000}).",[614318],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18423,Active,Orphanet+OMIM,OMIM:614319,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 6,,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 ({193000}).",[614319],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18424,Active,Orphanet+OMIM,OMIM:615390,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 7,,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux (VUR), see {193000}.",[615390],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18425,Active,Orphanet+OMIM,OMIM:615963,Subtype of disorder,[Malformation syndrome subtype],Vesicoureteral reflux 8,,,[615963],[289365],[Familial vesicoureteral reflux],[17323],,,,, +GARD:18426,Active,Orphanet+OMIM,OMIM:607936,Subtype of disorder,[Disease subtype],Peeling skin syndrome 4,"[ichthyosis, exfoliative, autosomal recessive, Ichthyosis bullosa of siemens-like]",,[607936],[289586],[Exfoliative ichthyosis],[17329],,,,, +GARD:18427,Active,Orphanet+OMIM,OMIM:617115,Subtype of disorder,[Disease subtype],Peeling skin syndrome 5,,"Peeling skin syndrome-5 (PSS5) is characterized by superficial peeling of the dorsal and palmar skin of the hands and feet; the skin of the forearms and legs may also be involved. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques ({1:Pigors et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 ({270300}).",[617115],[289586],[Exfoliative ichthyosis],[17329],,,,, +GARD:18428,Active,Orphanet+OMIM,OMIM:265050,Subtype of disorder,[Malformation syndrome subtype],3mc syndrome 2,"[Ptosis of eyelids with diastasis recti and hip dysplasia, oculo-skeletal-abdominal syndrome, osa syndrome, carnevale syndrome, formerly]","The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by {6:Rooryck et al., 2011}).\n\nFor a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 ({257920}).",[265050],[293843],[3MC syndrome],[1118],,,,, +GARD:18429,Active,Orphanet+OMIM,OMIM:614328,Subtype of disorder,[Disease subtype],"Inflammatory skin and bowel disease, neonatal, 1",,,[614328],[294023],[Neonatal inflammatory skin and bowel disease],[17355],,,,, +GARD:1843,Legacy,GARD,,,,,,,,,,,,Diaphragmatic agenesis radial aplasia omphalocele,TRUE,FALSE,Active +GARD:18430,Active,Orphanet+OMIM,OMIM:616069,Subtype of disorder,[Disease subtype],"Inflammatory skin and bowel disease, neonatal, 2",,,[616069],[294023],[Neonatal inflammatory skin and bowel disease],[17355],,,,, +GARD:18431,Active,Orphanet+OMIM,OMIM:208540,Subtype of disorder,[Malformation syndrome subtype],Renal-hepatic-pancreatic dysplasia 1,[Rhpd],,[208540],[294415],[Renal-hepatic-pancreatic dysplasia],[17356],,,,, +GARD:18432,Active,Orphanet+OMIM,OMIM:615415,Subtype of disorder,[Malformation syndrome subtype],Renal-hepatic-pancreatic dysplasia 2,,"RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by {4:Grampa et al., 2016}).\n\nFor a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 ({208540}).",[615415],[294415],[Renal-hepatic-pancreatic dysplasia],[17356],,,,, +GARD:18433,Active,Orphanet+OMIM,OMIM:300942,Subtype of disorder,[Disease subtype],Chromosome xq26.3 duplication syndrome,,"X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1; {139250}) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds ({1:Beckers et al., 2015}).",[300942],[300373],[X-linked acrogigantism],[17370],,,,, +GARD:18434,Active,Orphanet+OMIM,OMIM:143880,Subtype of disorder,[Disease subtype],"Hypercalcemia, infantile, 1","[Hypercalcemia, idiopathic, of infancy]","Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by {8:Schlingmann et al., 2011}).\n\n<Subhead> Genetic Heterogeneity\n\nInfantile hypercalcemia-2 (HCINF2; {616963}) is caused by mutation in the SLC34A1 gene ({182309}) on chromosome 5q35.",[143880],[300547],[Autosomal recessive infantile hypercalcemia],[17374],,,,, +GARD:18435,Active,Orphanet+OMIM,OMIM:616963,Subtype of disorder,[Disease subtype],"Hypercalcemia, infantile, 2",,"Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by {2:Schlingmann et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 ({143880}).",[616963],[300547],[Autosomal recessive infantile hypercalcemia],[17374],,,,, +GARD:18436,Active,Orphanet+OMIM,OMIM:604185,Subtype of disorder,[Morphological anomaly subtype],"Facial paresis, hereditary congenital, 2",,"For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis (HCFP), see {601471}.",[604185],[306530],[Congenital hereditary facial paralysis-variable hearing loss syndrome],[17379],,,,, +GARD:18437,Active,Orphanet+OMIM,OMIM:614744,Subtype of disorder,[Morphological anomaly subtype],"Facial paresis, hereditary congenital, 3",,"HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by {4:Vogel et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.",[614744],[306530],[Congenital hereditary facial paralysis-variable hearing loss syndrome],[17379],,,,, +GARD:18438,Active,Orphanet+OMIM,OMIM:614231,Subtype of disorder,[Disease subtype],"Microcephaly, epilepsy, and diabetes syndrome 1",[Meds],"Microcephaly, epilepsy, and diabetes syndrome-1 (MEDS1) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes (summary by {3:Poulton et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Microcephaly, Epilepsy, and Diabetes Syndrome\n\nMEDS2 ({619278}) is caused by mutation in the YIPF5 gene ({611483}) on chromosome 5q31.",[614231],[306558],[Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome],[17381],,,,, +GARD:18439,Active,Orphanet+OMIM,OMIM:619278,Subtype of disorder,[Disease subtype],"Microcephaly, epilepsy, and diabetes syndrome 2",,"MEDS2 is characterized by severe microcephaly and neonatal/early-onset epilepsy and diabetes ({1:De Franco et al., 2020}).\n\nFor a discussion of genetic heterogeneity of microcephaly, epilepsy, and diabetes syndrome, see MEDS1 ({614231}).",[619278],[306558],[Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome],[17381],,,,, +GARD:18440,Active,Orphanet+OMIM,OMIM:615551,Subtype of disorder,[Disease subtype],"Episodic pain syndrome, familial, 2",,"Familial episodic pain syndrome-2 is an autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities (summary by {1:Faber et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial episodic pain syndrome, see {615040}.",[615551],[306577],[Sodium channelopathy-related small fiber neuropathy],[17382],,,,, +GARD:18441,Active,Orphanet+OMIM,OMIM:612199,Subtype of disorder,[Disease subtype],Cerebroretinal microangiopathy with calcifications and cysts 1,"[Crmcc, coats plus syndrome]","Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia (summary by {1:Anderson et al., 2012} and {8:Polvi et al., 2012}).\n\nLeukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome ({614561}), has similar central nervous system features as CRMCC in the absence of extraneurologic or systemic manifestations. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic ({1:Anderson et al., 2012}; {8:Polvi et al., 2012}).\n\nSome features of CRMCC resemble those observed in dyskeratosis congenita (see, e.g., {127550}), which is a clinically and genetically heterogeneous telomere-related genetic disorder.\n\n<Subhead> Genetic Heterogeneity of Cerebroretinal Microangiopathy With Calcifications And Cysts\n\nSee also CRMCC2 ({617341}), caused by mutation in the STN1 gene ({613128}) on chromosome 10q24.",[612199],[313838],[Coats plus syndrome],[17412],,,,, +GARD:18442,Active,Orphanet+OMIM,OMIM:617341,Subtype of disorder,[Disease subtype],Cerebroretinal microangiopathy with calcifications and cysts 2,,"CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by {1:Simon et al., 2016}).\n\nFor a discussion of genetic heterogeneity of CRMCC, see CRMCC1 ({612199}).",[617341],[313838],[Coats plus syndrome],[17412],,,,, +GARD:18443,Active,Orphanet+OMIM,OMIM:614881,Subtype of disorder,[Disease subtype],"Spinal muscular atrophy, distal, autosomal recessive, 5",,"DSMA5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired (summary by {1:Blumen et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal SMA, see HMN1 ({182960}).",[614881],[314485],[Young adult-onset distal hereditary motor neuropathy],[17421],,,,, +GARD:18444,Active,Orphanet+OMIM,OMIM:619216,Subtype of disorder,[Disease subtype],"Neuropathy, hereditary motor, with myopathic features",,"Hereditary motor neuropathy with myopathic features (HMNMYO) is an autosomal recessive disorder with both myopathic and neurogenic features. Affected individuals usually present in the first decade with lower leg weakness resulting in difficulty climbing stairs and problems standing on the heels. Some patients have later onset well into the adult years. Most patients have foot deformities, and some may have leg muscle atrophy. The disorder is slowly progressive and often involves the upper limbs. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. Sensory abnormalities are not typically present, and patients remain ambulatory. The phenotype shows some phenotypic overlap with distal hereditary motor neuropathy (see, e.g., {182960}), but is distinguished by the presence of myopathic features (summary by {1:Deschauer et al., 2021} and {2:Pagnamenta et al., 2021}).",[619216],[314485],[Young adult-onset distal hereditary motor neuropathy],[17421],,,,, +GARD:18445,Active,Orphanet+OMIM,OMIM:300854,Subtype of disorder,[Disease subtype],"Renal cell carcinoma, xp11-associated",,"Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations with breakpoints involving the TFE3 gene within tumor cells. The result is a TFE3 transcription factor gene fusion with 1 of multiple reported genes including ASPRCR1 ({606236}) on chromosome 17q25 and PRCC ({179755}) on 1q21, and more rarely, NONO ({300084}) on Xq13, SFPQ ({605199}) on 1p34, CLTC ({118955}) on 17q23, and unknown genes on chromosomes 3 and 10. Xp11 translocations are often found in pediatric tumors and less commonly in adults. However, adult cases may outnumber pediatric cases since renal cell carcinoma is more common in the adult population. Prior chemotherapy is a known risk factor for Xp11 translocations. Histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed (review by {6:Ross and Argani, 2010}).\n\nFor a discussion of genetic heterogeneity of renal cell carcinoma, see RCC ({144700}).",[300854],[319308],[MiT family translocation renal cell carcinoma],[17446],,,,, +GARD:18446,Active,Orphanet+OMIM,OMIM:617591,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 3,,"Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by {1:Brehm et al., 2015}).\n\nFor a discussion of genetic heterogeneity of PRAAS, see PRAAS1 ({256040}).",[617591],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,,,, +GARD:18447,Active,Orphanet+OMIM,OMIM:618048,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 2,,"Proteasome-associated autoinflammatory syndrome-2 (PRAAS2) is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by {4:Poli et al., 2018}).\n\nFor a discussion of genetic heterogeneity of PRAAS, see PRAAS1 ({256040}).",[618048],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,,,, +GARD:18448,Active,Orphanet+OMIM,OMIM:619175,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 5,,,[619175],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,,,, +GARD:18449,Active,Orphanet+OMIM,OMIM:619183,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 4,,"Proteasome-associated autoinflammatory syndrome-4 (PRAAS4) is an autosomal recessive immunologic disorder characterized by onset of panniculitis and erythematous skin lesions in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, fever, generalized lipodystrophy, myositis, and joint contractures, as well as delayed motor and speech development. Autoimmune features, such as hemolytic anemia, may also occur. Laboratory studies show elevation of acute phase reactants and abnormal activation of the type I interferon response. Treatment with the JAK (see {147795}) inhibitor ruxolitinib may result in clinical improvement (summary by {1:de Jesus et al., 2019}).\n\nFor a discussion of genetic heterogeneity of PRAAS, see PRAAS1 ({256040}).",[619183],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,,,, +GARD:18450,Active,Orphanet+OMIM,OMIM:616479,Subtype of disorder,[Disease subtype],"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2","[Progressive external ophthalmoplegia, autosomal recessive 2]","Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by {1:Reyes et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 ({258450}).",[616479],[329336],[Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy],[17503],,,,, +GARD:18451,Active,Orphanet+OMIM,OMIM:610542,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 12","[Myasthenic syndrome, congenital, with tubular aggregates 1]","Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by {9:Senderek et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[610542],[353327],[Congenital myasthenic syndromes with glycosylation defect],[17539],,,,, +GARD:18452,Active,Orphanet+OMIM,OMIM:614750,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 13","[Myasthenic syndrome, congenital, with tubular aggregates 2]","Congenital myasthenic syndrome-13 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by {1:Belaya et al., 2012}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[614750],[353327],[Congenital myasthenic syndromes with glycosylation defect],[17539],,,,, +GARD:18453,Active,Orphanet+OMIM,OMIM:616227,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 15","[Myasthenic syndrome, congenital, without tubular aggregates]","Congenital myasthenic syndrome-15 is one of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness (summary by {1:Cossins et al., 2013}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616227],[353327],[Congenital myasthenic syndromes with glycosylation defect],[17539],,,,, +GARD:18454,Active,Orphanet+OMIM,OMIM:616228,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 14","[Myasthenic syndrome, congenital, with tubular aggregates 3]","Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by {1:Cossins et al., 2013}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616228],[353327],[Congenital myasthenic syndromes with glycosylation defect],[17539],,,,, +GARD:18455,Active,Orphanet+OMIM,OMIM:613151,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3","[Muscular dystrophy, congenital, pomgnt1-related]","MDDGB3 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and mild brain abnormalities ({1:Clement et al., 2008}). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({2:Mercuri et al., 2009}).\n\nFor a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 ({613155}).",[613151],[370959],[Congenital muscular dystrophy with cerebellar involvement],[17605],,,,, +GARD:18456,Active,Orphanet+OMIM,OMIM:613152,Subtype of disorder,[Disease subtype],"Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4","[Muscular dystrophy, congenital, fktn-related]","MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies.' In contrast to most dystroglycanopathies, impaired intellectual development is not a feature of MDDGB4 ({1:Godfrey et al., 2007}).\n\nFor a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 ({613155}).",[613152],[370980],[Congenital muscular dystrophy without intellectual disability],[17607],,,,, +GARD:18457,Active,Orphanet+OMIM,OMIM:615419,Subtype of disorder,[Disease subtype],"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1",[Ihprf],"Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by {1:Al-Sayed et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies\n\nSee also IHPRF2 ({616801}), caused by mutation in the UNC80 gene ({612636}) on chromosome 2q34; and IHPRF3 ({616900}), caused by mutation in the TBCK gene ({616899}) on chromosome 4q24.",[615419],[371364],[Hypotonia-speech impairment-severe cognitive delay syndrome],[17609],,,,, +GARD:18458,Active,Orphanet+OMIM,OMIM:616801,Subtype of disorder,[Disease subtype],"Hypotonia, infantile, with psychomotor retardation and characteristic facies 2",,"Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by {2:Shamseldin et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 ({615419}).",[616801],[371364],[Hypotonia-speech impairment-severe cognitive delay syndrome],[17609],,,,, +GARD:18459,Active,Orphanet+OMIM,OMIM:616033,Subtype of disorder,[Disease subtype],"Microcephaly, short stature, and impaired glucose metabolism 1",[Mssgm],,[616033],[391408],[Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome],[17620],,,,, +GARD:1846,Legacy,GARD,,,,,,,,,,,,Diaphragmatic hernia exomphalos corpus callosum agenesis,TRUE,FALSE,Active +GARD:18460,Active,Orphanet+OMIM,OMIM:616817,Subtype of disorder,[Disease subtype],"Microcephaly, short stature, and impaired glucose metabolism 2",,,[616817],[391408],[Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome],[17620],,,,, +GARD:18461,Active,Orphanet+OMIM,OMIM:615528,Subtype of disorder,[Disease subtype],"Parkinson disease 19a, juvenile-onset","[Park19, formerly]","Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by {1:Edvardson et al., 2012} and {3:Koroglu et al., 2013}).\n\nParkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy ({4:Olgiati et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD ({168600}).",[615528],[391411],[Atypical juvenile parkinsonism],[17621],,,,, +GARD:18462,Active,Orphanet+OMIM,OMIM:615530,Subtype of disorder,[Disease subtype],"Parkinson disease 20, early-onset",,"Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by {2:Krebs et al., 2013} and {3:Quadri et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD ({168600}).",[615530],[391411],[Atypical juvenile parkinsonism],[17621],,,,, +GARD:18463,Active,Orphanet+OMIM,OMIM:616489,Subtype of disorder,[Etiological subtype],Silver-russell syndrome 3,"[Growth restriction, severe, with distinctive facies]","Silver-Russell syndrome-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay ({2:Begemann et al., 2015}; {7:Yamoto et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 ({180860}).",[616489],[397590],[Silver-Russell syndrome due to a point mutation],[17628],,,,, +GARD:18464,Active,Orphanet+OMIM,OMIM:618907,Subtype of disorder,[Etiological subtype],Silver-russell syndrome 4,,"Silver-Russell syndrome-4 (SRS4) is characterized by intrauterine growth retardation followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face and prominent forehead, and relative macrocephaly at birth may be observed ({1:Abi Habib et al., 2018}).\n\nFor a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 ({180860}).",[618907],[397590],[Silver-Russell syndrome due to a point mutation],[17628],,,,, +GARD:18465,Active,Orphanet+OMIM,OMIM:618908,Subtype of disorder,[Etiological subtype],Silver-russell syndrome 5,,"Silver-Russell syndrome-5 (SRS5) is characterized by intrauterine growth retardation, with feeding difficulties in early childhood and postnatal growth failure. Relative macrocephaly may be present at birth. Other dysmorphic features include triangular face with prominent forehead ({3:De Crescenzo et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 ({180860}).",[618908],[397590],[Silver-Russell syndrome due to a point mutation],[17628],,,,, +GARD:18466,Active,Orphanet+OMIM,OMIM:615595,Subtype of disorder,[Disease subtype],Combined oxidative phosphorylation deficiency 19,,,[615595],[397593],[Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency],[17629],,,,, +GARD:18467,Active,Orphanet+OMIM,OMIM:616546,Subtype of disorder,[Malformation syndrome subtype],Short-rib thoracic dysplasia 14 with polydactyly,,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {2:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500}).",[616546],[397715],[Joubert syndrome with Jeune asphyxiating thoracic dystrophy],[17637],,,,, +GARD:18468,Active,Orphanet+OMIM,OMIM:615592,Subtype of disorder,[Disease subtype],Immunodeficiency 15b,,"Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by {3:Pannicke et al., 2013}).",[615592],[397787],[Severe combined immunodeficiency due to IKK2 deficiency],[17641],,,,, +GARD:18469,Active,Orphanet+OMIM,OMIM:618204,Subtype of disorder,[Disease subtype],Immunodeficiency 15a,,"Immunodeficiency 15A (IMD15A) is an autosomal dominant primary immunodeficiency disorder characterized by relatively late onset of recurrent respiratory tract infections and lymphopenia, combined with immune activation of both CD4+ and CD8+ T cells. One patient presented with inflammatory disease and possible ectodermal defect.",[618204],[397787],[Severe combined immunodeficiency due to IKK2 deficiency],[17641],,,,, +GARD:1847,Legacy,GARD,,,,,,,,,,,,Diaphragmatic hernia upper limb defects,TRUE,FALSE,Active +GARD:18470,Active,Orphanet+OMIM,OMIM:109730,Subtype of disorder,[Morphological anomaly subtype],Aortic valve disease 1,"[aortic valve, bicuspid, aortic stenosis, calcific, Aortic valve disease, bicuspid aortic valve, aortic valve, calcification of]","Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets ({4:Cripe et al., 2004}). In 1 to 2% of the population a bicuspid aortic valve is present. Bicuspid aortic valve is frequently an antecedent to aortic valve stenosis or insufficiency. In extreme cases the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome ({241550}) ({6:Garg et al., 2005}). The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. Mutations in the signaling and transcription regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in nonsyndromic autosomal dominant human pedigrees.\n\n<Subhead> Genetic Heterogeneity of Aortic Valve Disease\n\nAlso see AOVD2 ({614823}), caused by mutation in the SMAD6 gene ({602931}) on chromosome 15q22, and AOVD3 ({618496}), caused by mutation in the ROBO4 gene ({607528}) on chromosome 11q24. There is evidence for additional genetic heterogeneity (see MAPPING).",[109730],[402075],[Familial bicuspid aortic valve],[17670],,,,, +GARD:18471,Active,Orphanet+OMIM,OMIM:614823,Subtype of disorder,[Morphological anomaly subtype],Aortic valve disease 2,"[aortic valve stenosis, Bicuspid aortic valve]","Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta ({3:Tan et al., 2012}; {1:Luyckx et al., 2019}; {2:Park et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 ({109730}).",[614823],[402075],[Familial bicuspid aortic valve],[17670],,,,, +GARD:18472,Active,Orphanet+OMIM,OMIM:155600,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 1","[melanoma, malignant, melanoma, familial, Melanoma, cutaneous malignant, b-k mole syndrome, dysplastic nevus syndrome, hereditary, familial atypical mole-malignant melanoma syndrome]","Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {57:Habif, 2010}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Cutaneous Malignant Melanoma\n\nThe locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 ({155601}), caused by variation in the CDKN2A gene ({600160}) on chromosome 9p21; CMM3 ({609048}), caused by variation in the CDK4 gene ({123829}) on chromosome 12q14; CMM4 ({608035}), mapped to chromosome 1p22; CMM5 ({613099}), caused by variation in the MC1R gene ({155555}) on chromosome 16q24; CMM6 ({613972}), caused by variation in the XRCC3 gene ({600675}) on chromosome 14q32; CMM7 ({612263}), mapped to chromosome 20q11; CMM8 ({614456}), caused by variation in the MITF gene ({156845}) on chromosome 3p13; CMM9 ({615134}), caused by variation in the TERT gene ({187270}) on chromosome 5p15; and CMM10 ({615848}), caused by mutation in the POT1 gene ({606478}) on chromosome 7q31.\n\nSomatic mutations causing malignant melanoma have also been identified in several genes, including BRAF ({164757}), STK11 ({602216}), PTEN ({601728}), TRRAP ({603015}), DCC ({120470}), GRIN2A ({138253}), ZNF831, BAP1 ({603089}), and RASA2 ({601589}). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E ({164757.0001}) ({34:Davies et al., 2002}; {93:Pollock et al., 2003}).",[155600],"[404560, 618]","[Familial melanoma, Familial atypical multiple mole melanoma syndrome]","[3460, 9281]",,,,, +GARD:18473,Active,Orphanet+OMIM,OMIM:606719,Subtype of disorder,[Disease subtype],Melanoma-pancreatic cancer syndrome,[Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome],"Melanoma-pancreatic cancer syndrome is an inherited cancer predisposition syndrome in which mutation carriers have an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer (summary by {3:Harinck et al., 2012}).\n\nFor background and phenotypic information on malignant melanoma and pancreatic cancer, see {155600} and {260350}, respectively.",[606719],[404560],[Familial atypical multiple mole melanoma syndrome],[9281],,,,, +GARD:18474,Active,Orphanet+OMIM,OMIM:168601,Subtype of disorder,[Disease subtype],"Parkinson disease 1, autosomal dominant","[Parkinson disease 1, autosomal dominant lewy body]","Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; {104300}), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia ({18:Polymeropoulos et al., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.",[168601],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18475,Active,Orphanet+OMIM,OMIM:605543,Subtype of disorder,[Disease subtype],"Parkinson disease 4, autosomal dominant","[Parkinson disease 4, autosomal dominant lewy body]",,[605543],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18476,Active,Orphanet+OMIM,OMIM:607060,Subtype of disorder,[Disease subtype],"Parkinson disease 8, autosomal dominant",,,[607060],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18477,Active,Orphanet+OMIM,OMIM:607688,Subtype of disorder,[Disease subtype],"Parkinson disease 11, autosomal dominant, susceptibility to",,,[607688],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18478,Active,Orphanet+OMIM,OMIM:614203,Subtype of disorder,[Disease subtype],Parkinson disease 17,,"Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {7:Wider et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.",[614203],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18479,Active,Orphanet+OMIM,OMIM:614251,Subtype of disorder,[Disease subtype],"Parkinson disease 18, autosomal dominant, susceptibility to",,"Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {1:Chartier-Harlin et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.",[614251],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18480,Active,Orphanet+OMIM,OMIM:616361,Subtype of disorder,[Disease subtype],Parkinson disease 21,,"Parkinson disease-21 (PARK21) is an autosomal dominant form of typical adult-onset Parkinson disease characterized by tremor, rigidity, bradykinesia, postural instability, and good response to levodopa treatment (summary by {3:Vilarino-Guell et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD ({168600}).",[616361],[411602],[Hereditary late-onset Parkinson disease],[17684],,,,, +GARD:18481,Active,Orphanet+OMIM,OMIM:251270,Subtype of disorder,[Malformation syndrome subtype],"Microcephaly and chorioretinopathy, autosomal recessive, 1",,"Microcephaly and chorioretinopathy is an autosomal recessive developmental disorder characterized by delayed psychomotor development and visual impairment, often accompanied by short stature (summary by {5:Martin et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Microcephaly and Chorioretinopathy\n\nSee also MCCRP2 ({616171}), caused by mutation in the PLK4 gene ({605031}) on chromosome 4q27, and MCCRP3 ({616335}), caused by mutation in the TUBGCP4 gene ({609610}) on chromosome 15q15.\n\nAn autosomal dominant form of microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is caused by heterozygous mutation in the KIF11 gene ({148760}) on chromosome 10q23.\n\nSee also Mirhosseini-Holmes-Walton syndrome (autosomal recessive pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.",[251270],[2518],[Autosomal recessive chorioretinopathy-microcephaly syndrome],[16603],,,,, +GARD:18482,Active,Orphanet+OMIM,OMIM:616335,Subtype of disorder,[Malformation syndrome subtype],"Microcephaly and chorioretinopathy, autosomal recessive, 3",,,[616335],[2518],[Autosomal recessive chorioretinopathy-microcephaly syndrome],[16603],,,,, +GARD:18483,Active,Orphanet+OMIM,OMIM:616541,Subtype of disorder,[Malformation syndrome subtype],"Short stature, microcephaly, and endocrine dysfunction",,"In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients ({4:Murray et al., 2015}; {1:Bee et al., 2015}; {2:de Bruin et al., 2015}; {3:Guo et al., 2015}).",[616541],[436182],[Microcephalic primordial dwarfism-insulin resistance syndrome],[17728],,,,, +GARD:18484,Active,Orphanet+OMIM,OMIM:617253,Subtype of disorder,[Malformation syndrome subtype],Seckel syndrome 10,,,[617253],[436182],[Microcephalic primordial dwarfism-insulin resistance syndrome],[17728],,,,, +GARD:18485,Active,Orphanet+OMIM,OMIM:612591,Subtype of disorder,[Clinical subtype],"Colorectal cancer, susceptibility to, 10","[Colorectal cancer, susceptibility to, on chromosome 19q]",,[612591],[447877],[Polymerase proofreading-related adenomatous polyposis],[17772],,,,, +GARD:18486,Active,Orphanet+OMIM,OMIM:615083,Subtype of disorder,[Clinical subtype],"Colorectal cancer, susceptibility to, 12","[Colorectal cancer, susceptibility to, on chromosome 12q24]","Colorectal cancer-12 (CRCS12) is an autosomal dominant disorder characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset usually occurs before age 40 years. The histologic features of the tumors may be unremarkable ({3:Palles et al., 2013}) or show microsatellite instability (MSI) ({2:Elsayed et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see {114500}.",[615083],[447877],[Polymerase proofreading-related adenomatous polyposis],[17772],,,,, +GARD:18487,Active,Orphanet+OMIM,OMIM:613000,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma, nonepidermolytic, focal 1","[keratoderma, focal nonepidermolytic palmoplantar, Ppkfne, focal nonepidermolytic palmoplantar keratoderma]","Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is an autosomal dominant skin disorder characterized by large, hard, compact, painful masses of keratin that develop at sites of recurrent friction, principally on the feet, though also on the palms and other sites, without evidence of epidermolysis (summary by {1:Kelsell et al., 1995}).",[613000],[448264],[Isolated focal non-epidermolytic palmoplantar keratoderma],[17781],,,,, +GARD:18488,Active,Orphanet+OMIM,OMIM:616400,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma, nonepidermolytic, focal 2",,,[616400],[448264],[Isolated focal non-epidermolytic palmoplantar keratoderma],[17781],,,,, +GARD:18489,Active,Orphanet+OMIM,OMIM:617035,Subtype of disorder,[Morphological anomaly subtype],Patent ductus arteriosus 2,,"The ductus arteriosus is a muscular artery connecting the pulmonary artery and the aorta during fetal life, shunting blood away from the lungs. It normally occludes shortly after birth. Failure of ductal closure results in PDA, one of the most common congenital heart defects, affecting 1 in 2,000 to 1 in 5,000 full-term infants and constituting 5% to 7% of all congenital heart defects (summary by {3:Mani et al., 2005}). PDA can be an isolated anomaly or occur in association with other congenital anomalies (summary by {2:Khetyar et al., 2008}).\n\nFor a discussion of genetic heterogeneity of isolated PDA, see PDA1 ({607411}).",[617035],[466729],[Familial patent arterial duct],[17828],,,,, +GARD:18490,Active,Orphanet+OMIM,OMIM:617039,Subtype of disorder,[Morphological anomaly subtype],Patent ductus arteriosus 3,,"The ductus arteriosus is a vital in utero vascular connection between the aorta and pulmonary artery that allows right ventricular output to bypass the nonventilated fetal lungs. Postnatal closure of the ductus arteriosus is an important step in normal cardiopulmonary transition. Failure of ductal closure results in patent ductus arteriosus (PDA), which occurs in approximately 2 to 8 per 10,000 term infants and constitutes 5% to 7% of all congenital heart defects (summary by {1:Hajj and Dagle, 2012}).\n\nFor a discussion of genetic heterogeneity of isolated PDA, see PDA1 ({607411}).",[617039],[466729],[Familial patent arterial duct],[17828],,,,, +GARD:18491,Active,Orphanet+OMIM,OMIM:616913,Subtype of disorder,[Disease subtype],"Bleeding disorder, platelet-type, 20",,,[616913],[466806],[Autosomal dominant thrombocytopenia with platelet secretion defect],[17835],,,,, +GARD:18492,Active,Orphanet+OMIM,OMIM:619130,Subtype of disorder,[Disease subtype],Thrombocytopenia 7,"[Thrombocytopenia, autosomal dominant, 7]","Thrombocytopenia-7 (THC7) is an autosomal dominant disorder characterized by reduced peripheral platelet count. The expression and severity of the disorder is highly variable: some patients have no bleeding symptoms, whereas other have recurrent petechiae, epistaxis, or more severe bleeding episodes. A common finding is decreased alpha-granules in the platelets. There are variable findings on light and electron microscopic analysis: some patients have normal platelet morphology, whereas others show abnormal platelet morphology with cytoskeletal defects. Flow cytometric studies may show reduced expression of platelet membrane glycoproteins and activation markers (summary by {2:Lentaigne et al., 2019} and {1:Leinoe et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.",[619130],[466806],[Autosomal dominant thrombocytopenia with platelet secretion defect],[17835],,,,, +GARD:18493,Active,Orphanet+OMIM,OMIM:610448,Subtype of disorder,[Disease subtype],Chilblain lupus 1,,"Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; {152700}) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by {5:Lee-Kirsch et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Chilblain Lupus\n\nSee also CHBL2 ({614415}), caused by mutation in the SAMHD1 gene ({606754}) on chromosome 20q11.\n\nMutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, {225750} and AGS5, {612952}, respectively).",[610448],[481662],[Familial Chilblain lupus],[17874],,,,, +GARD:18494,Active,Orphanet+OMIM,OMIM:614415,Subtype of disorder,[Disease subtype],Chilblain lupus 2,,"Chilblain lupus is a rare cutaneous form of systemic lupus erythematosus (SLE; {152700}) characterized by tender, bluish-red swellings and nodules on the hands, feet, ears, and nose, with histologic changes of lupus. The phenotype is induced by cold, such that patients frequently report a worsening of lesions in the winter months (summary by {1:Ravenscroft et al., 2011}).\n\nFor a general description and a discussion of genetic heterogeneity of chilblain lupus, see CHBL1 ({610448}).",[614415],[481662],[Familial Chilblain lupus],[17874],,,,, +GARD:18495,Active,Orphanet+OMIM,OMIM:616867,Subtype of disorder,[Disease subtype],Spinal muscular atrophy with congenital bone fractures 2,,"Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by {3:Knierim et al., 2016}).\n\nFor a discussion of genetic heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 ({616866}).",[616867],[486811],[Prenatal-onset spinal muscular atrophy with congenital bone fractures],[17882],,,,, +GARD:18496,Active,Orphanet+OMIM,OMIM:616780,Subtype of disorder,[Disease subtype],Oocyte maturation defect 2,,,[616780],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:18497,Active,Orphanet+OMIM,OMIM:617743,Subtype of disorder,[Disease subtype],Oocyte maturation defect 4,,"Oocyte maturation defects due to mutation in PATL2 show phenotypic variability, with some oocytes exhibiting maturation arrest at the germinal vesicle stage and others at the metaphase I stage. In some patients, a few oocytes progress to polar body I; those oocytes either undergo fertilization failure or, in those that are fertilized, early embryonic arrest ({1:Chen et al., 2017}).",[617743],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:18498,Active,Orphanet+OMIM,OMIM:619009,Subtype of disorder,[Disease subtype],Oocyte maturation defect 8,,"Oocyte maturation defect-8 (OOMD8) is characterized by female infertility due to failure of the fertilized ovum to undergo zygotic cleavage ({1:Zheng et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774}).",[619009],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:18499,Active,Orphanet+OMIM,OMIM:619011,Subtype of disorder,[Disease subtype],Oocyte maturation defect 9,,"Oocyte maturation defect-9 (OOMD9) is characterized by female infertility due to oocyte meiotic arrest at metaphase I in most patients. Abnormal zygotic cleavage has also been observed ({1:Zhang et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774}).",[619011],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:185,Legacy,GARD,,,,,,,,,,,,Y chromosome infertility,TRUE,FALSE,Active +GARD:1850,Active,Orphanet,ORPHA:37042,Disorder,[Disease],Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,"[Autoimmune enteropathy type 1, IPEX]","A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.",[304790],,,,,"Immunodysregulation, polyendocrinopathy and enteropathy X-linked",TRUE,FALSE,Active +GARD:18500,Active,Orphanet+OMIM,OMIM:619176,Subtype of disorder,[Disease subtype],Oocyte maturation defect 10,,"Oocyte maturation defect-10 (OOMD10) is characterized by high rates of abnormal fertilization of mature oocytes, with development of multiple pronuclei or absent pronucleus. Morphologically normal zygotes often undergo early embryonic arrest, and surviving embryos fail to establish a successful pregnancy after implantation ({1:Wang et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774}).",[619176],[488191],[Female infertility due to oocyte meiotic arrest],[17887],,,,, +GARD:18501,Active,Orphanet+OMIM,OMIM:616973,Subtype of disorder,[Malformation syndrome subtype],"Intellectual developmental disorder, autosomal dominant 42","[Mental retardation, autosomal dominant 42]","Autosomal dominant intellectual developmental disorder-42 (MRD42) is characterized by global developmental delay and impaired intellectual development. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by {4:Petrovski et al., 2016}).",[616973],[488613],[Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome],[17893],,,,, +GARD:18502,Active,Orphanet+OMIM,OMIM:616917,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy","[intellectual developmental disorder, autosomal recessive 53, formerly, Glycosylphosphatidylinositol biosynthesis defect 13, mental retardation, autosomal recessive 53, formerly]","Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) is an autosomal recessive disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar atrophy, ataxia, and nonspecific dysmorphic features. NEDHSCA is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway. Some patients with NEDHSCA may have the Emm-null blood group phenotype (see {619812}) (summary by {4:Makrythanasis et al., 2016}; {2:Duval et al., 2021}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[616917],[488635],[Early-onset epilepsy-intellectual disability-brain anomalies syndrome],[17897],,,,, +GARD:18503,Active,Orphanet+OMIM,OMIM:400042,Subtype of disorder,[Malformation syndrome subtype],"Spermatogenic failure, y-linked, 1",,"In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules ({13:Sargent et al., 1999}).\n\nAnother, possibly X-linked, form of Sertoli cell-only syndrome has also been reported ({305700}).\n\n<Subhead> Heterogeneity of Spermatogenic Failure\n\nSee {415000} for a general discussion of the AZF region of the Y chromosome and Y-linked nonobstructive spermatogenic failure.\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[400042],[1646],[Partial chromosome Y deletion],[16574],,,,, +GARD:18504,Active,Orphanet+OMIM,OMIM:415000,Subtype of disorder,[Malformation syndrome subtype],"Spermatogenic failure, y-linked, 2","[Spermatogenic failure, nonobstructive, y-linked, spermatogenic arrest, y-linked, azoospermia, nonobstructive, y-linked, oligozoospermia, nonobstructive, y-linked, oligospermia, nonobstructive, y-linked]","About 2 to 3% of human males are infertile because of defects in sperm function, primarily due to oligozoospermia (defined as less than 10-15 million sperm per mL of semen) or azoospermia ({20:Hull et al., 1985}).\n\n<Subhead> Heterogeneity of Spermatogenic Failure\n\nFor a discussion of Y-linked spermatogenic failure due to Sertoli cell-only syndrome, see {400042}.\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[415000],[1646],[Partial chromosome Y deletion],[16574],,,,, +GARD:18505,Active,Orphanet+OMIM,OMIM:252270,Subtype of disorder,[Disease subtype],Monosomy 7 myelodysplasia and leukemia syndrome 1,"[monosomy 7 of bone marrow, Mlsm7, chromosome 7q deletion]","Monosomy 7 myelodysplasia and leukemia syndrome-1 (M7MLS1) is an autosomal dominant hematologic disorder with highly variable manifestations. Most patients present in early childhood with pancytopenia and dyspoietic or dysplastic changes in the bone marrow. These abnormalities are almost always associated with monosomy 7 in the bone marrow. In severely affected individuals, the phenotype progresses to frank myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML). Less severely affected individuals may have transient thrombocytopenia or anemia, or have normal peripheral blood counts with transient bone marrow abnormalities or transient monosomy 7. Germline mutations in the SAMD9L gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by {18:Wong et al., 2018}).\n\nMonosomy 7 or partial deletion of the long arm of chromosome 7 (7q-) is a frequent cytogenetic finding in the bone marrow of patients with myelodysplasia and acute myelogenous leukemia. Furthermore, monosomy 7 or 7q- is the most frequent abnormality of karyotype in cases of AML that occur after cytotoxic cancer therapy or occupational exposure to mutagens. The age distribution of de novo cases shows peaks in the first and fifth decades. Monosomy 7 is found in about 5% of de novo and 40% of secondary cases of AML. These findings suggest that loss of certain genes at this region is an important event in the development of myelodysplasia (summary by {16:Shannon et al., 1989}).\n\n<Subhead> Genetic Heterogeneity of Monosomy 7 Myelodysplastic and Leukemia Syndrome\n\nSee also M7MLS2 ({619041}), caused by germline mutation in the SAMD9 gene ({610457}) on chromosome 7q21.",[252270],[495930],[Familial monosomy 7 syndrome],[3765],,,,, +GARD:18506,Active,Orphanet+OMIM,OMIM:619041,Subtype of disorder,[Disease subtype],Monosomy 7 myelodysplasia and leukemia syndrome 2,,"Monosomy 7 myelodysplasia and leukemia syndrome-2 (M7MLS2) is an autosomal dominant hematologic disorder characterized by onset of pancytopenia, acute myelogenous leukemia (AML), and variable features of myelodysplastic syndrome (MDS) usually in the first decades of life. Bone marrow cells show monosomy 7. Germline mutations in the SAMD9 gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by {3:Wong et al., 2018}).\n\nFor a discussion of genetic heterogeneity of monosomy 7 myelodysplasia and leukemia syndrome, see {252270}.",[619041],[495930],[Familial monosomy 7 syndrome],[3765],,,,, +GARD:18507,Active,Orphanet+OMIM,OMIM:618097,Subtype of disorder,[Disease subtype],"Microcephaly, growth restriction, and increased sister chromatid exchange 2",,"MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM; {210900}), but patients with mutations in the TOP3A gene do not have a malar rash (summary by {1:Martin et al., 2018}).\n\nFor a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; {210900})",[618097],[508512],[Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome],[17949],,,,, +GARD:18508,Active,Orphanet+OMIM,OMIM:617660,Subtype of disorder,[Malformation syndrome subtype],"Vertebral, cardiac, renal, and limb defects syndrome 1","[3-hydroxyanthranilic acidemia, Congenital nad deficiency disorder 1]","VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by {1:Shi et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Vertebral, Cardiac, Renal, and Limb Defects Syndrome\n\nVCRL2 ({617661}) is caused by mutation in the KYNU gene ({605197}) on chromosome 2q22. VCRL3 ({618845}) is caused by mutation in the NADSYN1 gene ({608285}) on chromosome 11q13.",[617660],[521438],[Congenital vertebral-cardiac-renal anomalies syndrome],[17961],,,,, +GARD:18509,Active,Orphanet+OMIM,OMIM:617661,Subtype of disorder,[Malformation syndrome subtype],"Vertebral, cardiac, renal, and limb defects syndrome 2","[Congenital nad deficiency disorder 2, kynureninase deficiency, complete]","VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by {1:Shi et al., 2017}).\n\nFor a discussion of genetic heterogeneity of VCRL, see VCRL1 ({617660}).",[617661],[521438],[Congenital vertebral-cardiac-renal anomalies syndrome],[17961],,,,, +GARD:1851,Active,Orphanet,ORPHA:1671,Subtype of disorder,[Clinical subtype],Split cord malformation type I,"[SCM type 1, SCM type I, Split cord malformation type 1]","A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus.",[222500],,,,,Split spinal cord malformation,TRUE,FALSE,Active +GARD:18510,Active,Orphanet+OMIM,OMIM:618845,Subtype of disorder,[Malformation syndrome subtype],"Vertebral, cardiac, renal, and limb defects syndrome 3",[Congenital nad deficiency disorder 3],"Vertebral, cardiac, renal, and limb defects syndrome-3 (VCRL3) is an autosomal recessive disorder characterized by severe cardiac and renal anomalies that are lethal in infancy, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia ({1:Szot et al., 2020}).\n\nFor a discussion of genetic heterogeneity of VCRL, see VCRL1 ({617660}).",[618845],[521438],[Congenital vertebral-cardiac-renal anomalies syndrome],[17961],,,,, +GARD:18511,Active,Orphanet+OMIM,OMIM:301029,Subtype of disorder,[Disease subtype],Shukla-vernon syndrome,,"Shukla-Vernon syndrome (SHUVER) is an X-linked recessive neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development, and behavioral abnormalities, including autism spectrum disorder and ADHD. Dysmorphic features are common and may include tall forehead, downslanting palpebral fissures, and tapering fingers. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier mothers may have mild manifestations, including learning disabilities (summary by {2:Shukla et al., 2019}).",[301029],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18512,Active,Orphanet+OMIM,OMIM:606053,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with autism and speech delay,"[autism-related speech delay, Phrase speech delay, autism-related, autism, susceptibility to, 5, formerly]","IDDAS is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits ({3:Deriziotis et al., 2014}; {2:den Hoed et al., 2018}).",[606053],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18513,Active,Orphanet+OMIM,OMIM:617755,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,,"NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by {3:Stankiewicz et al., 2017}).",[617755],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18514,Active,Orphanet+OMIM,OMIM:618009,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 61","[Mental retardation, autosomal dominant 61]","Autosomal dominant intellectual developmental disorder-61 (MRD61) is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). Most affected individuals learn to walk on time or with some mild delay. Additional features are highly variable and may include nonspecific dysmorphic features, obstipation, ocular anomalies, and poor overall growth ({1:Snijders Blok et al., 2018}).",[618009],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18515,Active,Orphanet+OMIM,OMIM:618292,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia",,,[618292],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18516,Active,Orphanet+OMIM,OMIM:618342,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature",,,[618342],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18517,Active,Orphanet+OMIM,OMIM:618430,Subtype of disorder,[Disease subtype],Developmental delay with variable intellectual impairment and behavioral abnormalities,,"Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) is an autosomal dominant neurodevelopmental disorder. Most patients have impaired intellectual development with speech difficulties, and many have behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity. Many patients have dysmorphic features, although there is not a consistent gestalt. Additional more variable features may include hypotonia, somatic overgrowth with macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation. The phenotype is highly variable (summary by {5:Vetrini et al., 2019} and {4:Torti et al., 2019}).",[618430],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18518,Active,Orphanet+OMIM,OMIM:618470,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with severe speech and ambulation defects,,"Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) is an autosomal dominant neurodevelopmental disorder with onset of features in infancy or early childhood. Affected individuals have global developmental delay with impaired intellectual development and absent speech, and most cannot walk independently. Common dysmorphic features include prominent forehead and wide mouth (summary by {1:Bell et al., 2019}).",[618470],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18519,Active,Orphanet+OMIM,OMIM:618569,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly",,,[618569],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18520,Active,Orphanet+OMIM,OMIM:618653,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with impaired language and dysmorphic facies,,"Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) is an autosomal dominant disorder characterized by global developmental delay apparent from infancy, impaired language development, and dysmorphic facial features, including hypertelorism, epicanthal folds, and abnormal palpebral fissures. Some patients may have additional findings, including feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies (summary by {1:Balak et al., 2019}).",[618653],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18521,Active,Orphanet+OMIM,OMIM:618659,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies,,"Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a global neurodevelopmental disorder with highly variable features. Patients often show poor feeding, poor overall growth, and hypotonia from early infancy, followed by mildly delayed motor development, poor language acquisition, and behavioral abnormalities. Intellectual development varies from severe with absent speech to mild with the ability to attend special schools. Common features include dysmorphic facial features with notable eye anomalies, joint hypermobility, and mild skeletal anomalies of the hands and feet (summary by {1:Carapito et al., 2019}).",[618659],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18522,Active,Orphanet+OMIM,OMIM:618906,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder with autistic features and language delay, with or without seizures",,"Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS), is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum. About half of patients develop seizures; brain imaging is typically normal. Additional features are highly variable, but may include chronic constipation, walking difficulties, and dysmorphic facial features (summary by {3:Guo et al., 2019}).",[618906],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18523,Active,Orphanet+OMIM,OMIM:618914,Subtype of disorder,[Disease subtype],"Neurodevelopmental, jaw, eye, and digital syndrome",,"Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is characterized by phenotypic diversity, with patients exhibiting a range of overlapping phenotypes. Most patients show developmental delay ranging from mild to severe, and often have behavioral disorders as well. Brain imaging shows hypoplasia of the corpus callosum, prominence of lateral ventricles, and/or white matter abnormalities. Many patients have retro- or micrognathia, but mild prognathism has also been observed. Ocular anomalies are variably present, and may be severe and complex; however, some patients show only mild myopia. Abnormalities of fingers and toes include brachydactyly, clinodactyly, syndactyly, and contractures; polydactyly is rarely seen ({1:Holt et al., 2019}).",[618914],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18524,Active,Orphanet+OMIM,OMIM:618922,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities",,"Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects. Death in childhood may occur (summary by {2:Marafi et al., 2020}).",[618922],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18525,Active,Orphanet+OMIM,OMIM:618971,Subtype of disorder,[Disease subtype],Tolchin-le caignec syndrome,[Intellectual developmental disorder with behavioral abnormalities and variable bone defects],"Tolchin-Le Caignec syndrome (TOLCAS) is a developmental disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes. Many patients have bony abnormalities, including osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference. Rarely, additional congenital anomalies may also be observed. These additional features and the bony defects are highly variable (summary by {1:Tolchin et al., 2020}).",[618971],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18526,Active,Orphanet+OMIM,OMIM:618974,Subtype of disorder,[Disease subtype],Li-ghorbani-weisz-hubshman syndrome,,"Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is a neurodevelopmental disorder characterized by global developmental delay, mild to moderately impaired intellectual development with language delay, and mild dysmorphic features. Affected individuals may have behavioral abnormalities and difficulties with numbers and understanding certain concepts, such as money. Some patients have seizures. Brain imaging often shows enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia, suggesting abnormal cortical brain development. More variable additional features may be present (summary by {1:Li et al., 2020}).",[618974],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18527,Active,Orphanet+OMIM,OMIM:619000,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with seizures and language delay,,"Intellectual developmental disorder with seizures and language delay (IDDSELD) is characterized by global developmental delay with speech and language impairment and onset of seizures usually in the first few years of life. Seizures tend to be myoclonic, although variable types have been reported. Many patients have accompanying behavioral abnormalities, most commonly autism spectrum disorder and anxiety. Additional features, such as facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed (summary by {6:Roston et al., 2021}).",[619000],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18528,Active,Orphanet+OMIM,OMIM:619005,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia",,"Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) is an autosomal recessive disorder characterized by global developmental delay and mildly to severely impaired intellectual development with poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism. Aside from dysmorphic facial features and occasional findings such as scoliosis or undescended testes, other organ systems are not involved (summary by {3:Schneeberger et al., 2020}).",[619005],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18529,Active,Orphanet+OMIM,OMIM:619031,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies",,"IDDEBF is a severe disorder characterized by impaired intellectual development, epilepsy, behavioral abnormalities, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes ({1:Kvarnung et al., 2018}).",[619031],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:1853,Legacy,GARD,,,,,,,,,,,,Dibasic aminoaciduria 2,TRUE,FALSE,Active +GARD:18530,Active,Orphanet+OMIM,OMIM:619056,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with speech impairment and dysmorphic facies,,"Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) is characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition. Additional features include dysmorphic facies, distal limb anomalies, gastrointestinal problems or feeding difficulties, and hypotonia. The phenotypic features and severity of the disorder are variable (summary by {3:Kummeling et al., 2021}).",[619056],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18531,Active,Orphanet+OMIM,OMIM:619072,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with seizures and brain atrophy,,"Neurodevelopmental disorder with seizures and brain atrophy (NEDSEBA) is an autosomal recessive disorder with highly variable manifestations and severity of these core features. The most severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion or planned termination. Those that survive may present with severe seizures at birth, have poor overall growth with small head circumference, achieve no developmental progress, and show significant brain atrophy and other brain abnormalities. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy (summary by {1:Coulter et al., 2020}).",[619072],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18532,Active,Orphanet+OMIM,OMIM:619076,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy",,"Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB) is an autosomal recessive disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life; eventually they are unable to sit, feed, or communicate, and may be unresponsive to stimuli. Other features include muscle weakness, spasticity with hyperreflexia, irritability, and contractures ({1:Coulter et al., 2020}).",[619076],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18533,Active,Orphanet+OMIM,OMIM:619083,Subtype of disorder,[Disease subtype],Delpire-mcneill syndrome,,"Delpire-McNeill syndrome (DELMNES) is a neurodevelopmental disorder with highly variable manifestations. Patients present in infancy with global developmental delay, including motor, speech, and impaired intellectual development. The most severely affected patients have hypotonia, inability to hold their head or walk, bilateral sensorineural deafness, and absent language, whereas others have delayed walking and mild to moderate intellectual disability, often with speech delay and autistic features. More variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect (summary by {1:McNeill et al., 2020}).",[619083],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18534,Active,Orphanet+OMIM,OMIM:619091,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities",,"Neurodevelopmental disorder with microcephaly, language delay, and gait abnormalities (NEDMILG) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems ({1:Manole et al., 2020}).",[619091],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18535,Active,Orphanet+OMIM,OMIM:619092,Subtype of disorder,[Disease subtype],"Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities",,"Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG) is characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems ({1:Manole et al., 2020}).",[619092],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18536,Active,Orphanet+OMIM,OMIM:619099,Subtype of disorder,[Disease subtype],Intellectual developmental disorder with speech delay and axonal peripheral neuropathy,,"Intellectual developmental disorder with speech delay and axonal peripheral neuropathy (IDDSAPN) is an autosomal recessive neurologic disorder characterized by mild global developmental delay with motor impairment and severe speech delay apparent in the first years of life. Affected individuals begin to walk independently between 3 and 4 years of age, but often have an unsteady or ataxic gait. Most patients have progressive distal muscle weakness and atrophy of the lower limbs, foot or hand deformities, and dysarthria, consistent with a peripheral neuropathy. There is mildly impaired intellectual development. Some patients may have behavioral anomalies, such as autistic features or attention deficit-hyperactivity disorder (ADHD), and some can attend special schools. The overall clinical features indicate involvement of both the central and peripheral nervous systems (summary by {3:Martin et al., 2020} and {1:Ahmed et al., 2021})",[619099],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18537,Active,Orphanet+OMIM,OMIM:619125,Subtype of disorder,[Disease subtype],Kaya-barakat-masson syndrome,,"Kaya-Barakat-Masson syndrome (KABAMAS) is a severe autosomal recessive neurodevelopmental disorder characterized by profoundly impaired global development with variable motor abnormalities, such as axial hypotonia, peripheral spasticity, dystonia, and poor coordination, resulting in the inability to sit or walk. Affected individuals have impaired intellectual development with absent speech, poor eye contact, and feeding difficulties, resulting in poor overall growth, sometimes with microcephaly. Dysmorphic features are generally not present. Additional more variable features include early-onset seizures, ocular anomalies, foot deformities, and nonspecific brain imaging findings, such as thin corpus callosum and cerebral, cerebellar, or pontine atrophy. Some patients may die in infancy or early childhood (summary by {1:AlMuhaizea et al., 2020} and {2:Diaz et al., 2020}).",[619125],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18538,Active,Orphanet+OMIM,OMIM:619149,Subtype of disorder,[Disease subtype],Lessel-kreienkamp syndrome,,"Lessel-Kreienkamp syndrome (LESKRES) is a neurodevelopmental disorder characterized by global developmental delay with intellectual disability and speech and language delay apparent from infancy or early childhood. The severity of the disorder is highly variable: some patients have mildly delayed walking and mild cognitive deficits, whereas others are nonambulatory and nonverbal. Most have behavioral disorders. Additional features, including seizures, hypotonia, gait abnormalities, visual defects, cardiac defects, and nonspecific dysmorphic facial features may also be present (summary by {1:Lessel et al., 2020}).",[619149],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18539,Active,Orphanet+OMIM,OMIM:619157,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with or without early-onset generalized epilepsy,,"Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) is characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. About half of patients develop early-onset generalized epilepsy with different seizure types; myoclonic seizures and myoclonic-atonic epilepsy are commonly observed. The seizures may remit with age or remain refractory to treatment. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities (summary by {3:Mulhern et al., 2018}).",[619157],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:1854,Legacy,GARD,,,,,,,,,,,,Dibasic aminoaciduria 1,TRUE,FALSE,Active +GARD:18540,Active,Orphanet+OMIM,OMIM:619239,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with or without autism or seizures,,"Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures. Others have autistic features or behavioral abnormalities. Additional variable systemic features may also be present, such as cardiac defects, failure to thrive, or brain imaging anomalies (summary by {5:Nakashima et al., 2020}).",[619239],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18541,Active,Orphanet+OMIM,OMIM:619243,Subtype of disorder,[Disease subtype],Global developmental delay with speech and behavioral abnormalities,,"Global developmental delay with speech and behavioral abnormalities (GDSBA) is characterized by developmental delay apparent from infancy or early childhood. Affected individuals have mildly delayed fine and motor skills with walking by 3 years of age, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and ADHD. Some patients may have additional nonspecific features, such as facial dysmorphism, myopia or strabismus, and skeletal defects, including joint hypermobility, pes planus, or slender fingers (summary by {2:Granadillo et al., 2020}).",[619243],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18542,Active,Orphanet+OMIM,OMIM:619244,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism,,"Neurodevelopmental disorder with cerebral atrophy and facial dysmorphism (NEDCAFD) is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Most patients have variable dysmorphic facial features including prominent eyes, protruding and low-set ears, and thin upper lip. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern (summary by {2:Rasheed et al., 2021}).",[619244],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18543,Active,Orphanet+OMIM,OMIM:619264,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with dysmorphic facies and variable seizures,,"Neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS) is an autosomal recessive disorder characterized by global developmental delay apparent in early childhood. Patients have mildly impaired intellectual development, often with speech delay or behavioral abnormalities. Some may have seizures. Most have nonspecific dysmorphic facial features. Additional findings may include brain imaging abnormalities, mild skeletal defects, and renal abnormalities, although the renal anomalies may be unrelated (summary by {1:Shao et al., 2021}).",[619264],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18544,Active,Orphanet+OMIM,OMIM:619268,Subtype of disorder,[Disease subtype],Alzahrani-kuwahara syndrome,[Neurodevelopmental disorder with dysmorphic facies and cataracts],"Alzahrani-Kuwahara syndrome (ALKUS) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay with severely impaired intellectual function and poor or absent speech. Patients have poor overall growth and dysmorphic facial features. More variable findings include early-onset cataracts, hypotonia, congenital heart defects, lower limb spasticity, and hypospadias (summary by {1:Alzahrani et al., 2020}).",[619268],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18545,Active,Orphanet+OMIM,OMIM:619306,Subtype of disorder,[Disease subtype],Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia,,"Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. The phenotype is variable: more severely affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling. Brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia, although other features, such as thin corpus callosum and delayed myelination, may also be present. Dysmorphic facial features include sloping forehead, upslanting palpebral fissures, and hypertelorism. Additional more variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures (summary by {1:Van Bergen et al., 2020}).",[619306],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18546,Active,Orphanet+OMIM,OMIM:619314,Subtype of disorder,[Disease subtype],Buratti-harel syndrome,,"Buratti-Harel syndrome (BURHAS) is a neurodevelopmental disorder characterized by infantile hypotonia, global developmental delay, mild motor and speech delay, and mild to moderately impaired intellectual development. Some patients are able to attend special schools and show learning difficulties, whereas others are more severely affected. Patients have prominent dysmorphic facial features, including hypertelorism, downslanting palpebral fissures, strabismus, and small low-set ears. Additional features may include laryngomalacia with feeding difficulties and distal skeletal anomalies (summary by {1:Buratti et al., 2021}).",[619314],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18547,Active,Orphanet+OMIM,OMIM:619320,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, autosomal dominant 65","[Mental retardation, autosomal dominant 65]","Autosomal dominant intellectual developmental disorder-65 (MRD65) is characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities. Affected individuals also have dysmorphic facial features. Brain imaging may be normal or may show abnormalities, including cerebellar hypoplasia, poor development of the corpus callosum, dysmorphic hippocampus, and polymicrogyria. Feeding difficulties, hypotonia, and seizures may also be observed ({1:Duncan et al., 2020}).",[619320],[528084],[Non-specific syndromic intellectual disability],[17965],,,,, +GARD:18548,Active,Orphanet+OMIM,OMIM:616331,Subtype of disorder,[Clinical subtype],"Robinow syndrome, autosomal dominant 2",,"Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by {1:Bunn et al., 2015}). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 ({5:White et al., 2015}; {1:Bunn et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Robinow syndrome, see RRS ({268310}).",[616331],[3107],[Autosomal dominant Robinow syndrome],[16620],,,,, +GARD:18549,Active,Orphanet+OMIM,OMIM:616894,Subtype of disorder,[Clinical subtype],"Robinow syndrome, autosomal dominant 3",,"The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by {1:White et al., 2016}).\n\nFor a discussion of genetic heterogeneity in Robinow syndrome, see RRS ({268310}).",[616894],[3107],[Autosomal dominant Robinow syndrome],[16620],,,,, +GARD:1855,Active,Orphanet,ORPHA:2195,Disorder,[Disease],Dicarboxylic aminoaciduria,[Glutamate-aspartate transport defect],"Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.",[222730],,,,,Dicarboxylic aminoaciduria,TRUE,FALSE,Active +GARD:18550,Active,Orphanet+OMIM,OMIM:235400,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 1","[Ahus, susceptibility to, 1]","Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported ({18:Goodship et al., 1997}; {52:Taylor, 2001}; {55:Veyradier et al., 2003}; {37:Noris et al., 2003}). {38:Noris and Remuzzi (2009)} provided a detailed review of atypical HUS.\n\n<Subhead> Genetic Heterogeneity of Atypical Hemolytic Uremic Syndrome\n\nAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system ({24:Jozsi et al., 2008}). See AHUS2 ({612922}), AHUS3 ({612923}), AHUS4 ({612924}), AHUS5 ({612925}), and AHUS6 ({612926}). AHUS7 (see {615008}) is caused by mutation in the DGKE gene ({601440}), which is not part of the complement cascade system.",[235400],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18551,Active,Orphanet+OMIM,OMIM:609814,Subtype of disorder,[Etiological subtype],Complement factor h deficiency,"[cfh deficiency, factor h deficiency, C3 glomerulopathy 1]","Complement factor H deficiency (CFHD) has a variable phenotype. Some patients present with recurrent infections, including increased susceptibility to meningococcal infections, whereas others develop renal disease manifest primarily as C3 glomerulopathy. Affected individuals usually present in the first decades of life with nonspecific findings such as hematuria and may progress to chronic renal failure. As complement factor H is the key regulator of the alternative pathway of the complement system, CFH deficiency results in inappropriate activation of the alternative complement pathway. Laboratory features usually include decreased serum levels of factor H, due to the genetic defect, as well as secondarily decreased levels of complement component C3 ({120700}) and other alternative pathway components, consistent with consumption of these factors. The renal phenotype is now considered to be a form of C3 glomerulopathy (C3G), which is a pathologic entity in which C3 is deposited within the kidney glomerulus in the mesangial or intramembranous space; this occurs in the absence of immune complexes or immunoglobulins. Terms used to describe this disease include membranoproliferative glomerulonephritis type II (MPGN II), mesangial glomerulonephritis, dense deposit disease (DDD), and C3 glomerulonephritis (summary by {4:Ault, 2000}, reviews by {17:Riedl et al., 2017} and {22:Wong and Kavanagh, 2018}).\n\n<Subhead> Nomenclature and Classification\n\nSeveral reviews ({10:Ito et al., 2017}, {17:Riedl et al., 2017}, {22:Wong and Kavanagh, 2018}) have noted that the definition and classification of C3G continues to evolve. Historically, C3G has been referred to as type II membranoproliferative glomerulonephritis (MPGN) or dense deposit disease (DDD) with mesangial or intramembranous deposition of electron dense material. In contrast, MPGN types I and III, which are usually associated with immune complex deposition, tend to show subendothelial and subepithelial electron dense deposits. However, there is significant variability, and the differentiation and distinction between these terms is often unclear. {21:Welch (2002)} also discussed the role of complement in renal disease.\n\nA subgroup of patients with MGPN II who do not have mutations in the CFH gene are positive for serum C3 nephritic factor (C3NeF), which is an autoantibody directed against C3bBb, the convertase of the alternative pathway of the complement cascade. Presence of C3NeF prolongs the half-life of C3 convertase, which also results in inappropriate activation of the complement cascade (summary by {1:Abrera-Abeleda et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of C3G\n\nC3G2 ({610984}) is caused by mutation in the CFI gene ({217030}) on chromosome 4q25, and C3G3 ({614809}) is caused by mutation in the CFHR5 gene ({608593}) on chromosome 1q31.",[609814],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18552,Active,Orphanet+OMIM,OMIM:612922,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 2","[Ahus, susceptibility to, 2]",,[612922],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18553,Active,Orphanet+OMIM,OMIM:612923,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 3","[Ahus, susceptibility to, 3]",,[612923],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18554,Active,Orphanet+OMIM,OMIM:612924,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 4","[Ahus, susceptibility to, 4]",,[612924],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18555,Active,Orphanet+OMIM,OMIM:612925,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 5","[Ahus, susceptibility to, 5]",,[612925],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18556,Active,Orphanet+OMIM,OMIM:612926,Subtype of disorder,[Etiological subtype],"Hemolytic uremic syndrome, atypical, susceptibility to, 6","[Ahus, susceptibility to, 6]",,[612926],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18557,Active,Orphanet+OMIM,OMIM:615008,Subtype of disorder,[Etiological subtype],"Nephrotic syndrome, type 7","[Nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis]","Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. Some patients may benefit from immunosuppressive therapy (summary by {2:Ozaltin et al., 2013}).\n\nAtypical hemolytic uremic syndrome-7 is characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system (summary by {1:Lemaire et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 ({235400}).",[615008],[544472],[Atypical hemolytic uremic syndrome with complement gene abnormality],[17986],,,,, +GARD:18558,Active,Orphanet+OMIM,OMIM:190440,Subtype of disorder,[Morphological anomaly subtype],Trigonocephaly 1,"[Craniosynostosis, metopic]","Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by {1:Frydman et al., 1984}).\n\n<Subhead> Genetic Heterogeneity of Isolated Trigonocephaly\n\nAlso see trigonocephaly-2 (TRIGNO2; {614485}), caused by mutation in the FREM1 gene ({608944}) on chromosome 9p22.",[190440],[3366],[Non-syndromic metopic craniosynostosis],[16626],,,,, +GARD:18559,Active,Orphanet+OMIM,OMIM:614485,Subtype of disorder,[Morphological anomaly subtype],Trigonocephaly 2,"[Craniosynostosis, metopic]","Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by {2:Vissers et al., 2011}).\n\nFor a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 ({190440}).\n\nA syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see {158170}).",[614485],[3366],[Non-syndromic metopic craniosynostosis],[16626],,,,, +GARD:18560,Active,Orphanet+OMIM,OMIM:619217,Subtype of disorder,[Malformation syndrome subtype],"Endove syndrome, limb-only type",,"Limb-only ENDOVE syndrome (ENDOVESL) is characterized by marked mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. Patients also exhibit abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies have been observed ({1:Allou et al., 2021}).",[619217],[611223],[EN1-related dorsoventral syndrome],[18027],,,,, +GARD:18561,Active,Orphanet+OMIM,OMIM:619218,Subtype of disorder,[Malformation syndrome subtype],"Endove syndrome, limb-brain type","[Mesomelia of lower extremities with hand, foot, and brain anomalies]","Limb-brain ENDOVE syndrome (ENDOVESLB) is characterized by marked mesomelic shortening of the lower limbs due to severe hypoplasia of the tibia and fibula. The talus is absent and foot bones are rudimentary. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. In addition, there is cerebellar aplasia with hypoplasia of the brainstem ({1:Allou et al., 2021}).",[619218],[611223],[EN1-related dorsoventral syndrome],[18027],,,,, +GARD:18562,Active,Orphanet+OMIM,OMIM:619301,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 14",,"Pontocerebellar hypoplasia type 14 (PCH14) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include hypotonia, spastic quadriplegia, and early-onset seizures. Brain imaging shows pontocerebellar hypoplasia, agenesis or partial agenesis of the corpus callosum, and sometimes a simplified gyral pattern. Early death may occur (summary by {1:Chai et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[619301],[613274],[Pontocerebellar hypoplasia type 14],[18032],,,,, +GARD:18563,Active,Orphanet+OMIM,OMIM:619302,Subtype of disorder,[Malformation syndrome subtype],"Pontocerebellar hypoplasia, type 15",,"Pontocerebellar hypoplasia type 15 (PCH15) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include spastic quadriplegia, early-onset seizures, and chronic anemia and thrombocytopenia. Brain imaging shows pontocerebellar hypoplasia and partial agenesis of the corpus callosum (summary by {1:Chai et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596}).",[619302],[613274],[Pontocerebellar hypoplasia type 14],[18032],,,,, +GARD:18564,Active,Orphanet+OMIM,OMIM:616286,Subtype of disorder,[Malformation syndrome subtype],Lethal congenital contracture syndrome 7,,"Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita (AMC), is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period ({2:Laquerriere et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 ({253310}).",[616286],[2680],[Hypomyelination neuropathy-arthrogryposis syndrome],[16604],,,,, +GARD:18565,Active,Orphanet+OMIM,OMIM:616287,Subtype of disorder,[Malformation syndrome subtype],Lethal congenital contracture syndrome 8,,"Lethal congenital contracture syndrome-8 (LCCS8), an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period ({3:Laquerriere et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 ({253310}).",[616287],[2680],[Hypomyelination neuropathy-arthrogryposis syndrome],[16604],,,,, +GARD:18566,Active,Orphanet+OMIM,OMIM:617468,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect","[Arthrogryposis multiplex congenita, neurogenic, with myelin defect]","AMC1 is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by {1:Xue et al., 2017}).\n\n<Genetic Heterogeneity of Arthrogryposis Multiplex Congenita\n\nAlso see AMC2 ({208100}), caused by mutation in the ERGIC1 gene ({617946}); AMC3 ({618484}), caused by mutation in the SYNE1 gene ({608441}); AMC4 ({618776}), caused by mutation in the SCYL2 gene ({616365}); AMC5 ({618947}), caused by mutation in the TOR1A gene ({605204}), and AMC6 ({619334}), caused by mutation in the NEB gene ({161650})",[617468],[2680],[Hypomyelination neuropathy-arthrogryposis syndrome],[16604],,,,, +GARD:18567,Active,Orphanet+OMIM,OMIM:618186,Subtype of disorder,[Malformation syndrome subtype],"Neuropathy, congenital hypomyelinating, 3",,"Congenital hypomyelinating neuropathy-3 is an autosomal recessive neurologic disorder characterized by onset of neurogenic muscle impairment in utero. Affected individuals present at birth with severe hypotonia, often causing respiratory insufficiency or failure and inability to swallow or feed properly. They have profoundly impaired psychomotor development and may die in infancy or early childhood. Those that survive are unable to sit or walk. Sural nerve biopsy shows hypomyelination of the nerve fibers, and brain imaging often shows impaired myelination and cerebral and cerebellar atrophy. Nerve conduction velocities are severely decreased (about 10 m/s) or absent due to improper myelination (summary by {5:Vallat et al., 2016} and {2:Low et al., 2018}).\n\nFor a discussion of genetic heterogeneity of CHN, see CHN1 ({605253}).",[618186],[2680],[Hypomyelination neuropathy-arthrogryposis syndrome],[16604],,,,, +GARD:18568,Active,Orphanet+OMIM,OMIM:612336,Subtype of disorder,[Disease subtype],"Thrombophilia due to protein s deficiency, autosomal dominant",,"Heterozygous protein S deficiency, like protein C deficiency ({176860}), is characterized by recurrent venous thrombosis. {2:Bertina (1990)} classified protein S deficiency into 3 clinical subtypes based on laboratory findings. Type I refers to deficiency of both free and total protein S as well as decreased protein S activity; type II shows normal plasma values, but decreased protein S activity; and type III shows decreased free protein S levels and activity, but normal total protein S levels. Approximately 40% of protein S circulates as a free active form, whereas the remaining 60% circulates as an inactive form bound to C4BPA ({120830}).\n\n{24:Zoller et al. (1995)} observed coexistence of type I and type III PROS1-deficient phenotypes within a single family and determined that the subtypes are allelic. Under normal conditions, the concentration of protein S exceeds that of C4BPA by approximately 30 to 40%. Thus, free protein S is the molar surplus of protein S over C4BPA. Mild protein S deficiency will thus present with selective deficiency of free protein S, whereas more pronounced protein S deficiency will also decrease the complexed protein S and consequently the total protein S level. These findings explained why assays for free protein S have a higher predictive value for protein S deficiency.\n\nSee also autosomal recessive thrombophilia due to protein S deficiency (THPH6; {614514}), which is a more severe disorder.",[612336],[743],[Severe hereditary thrombophilia due to congenital protein S deficiency],[16543],,,,, +GARD:18569,Active,Orphanet+OMIM,OMIM:614514,Subtype of disorder,[Disease subtype],"Thrombophilia due to protein s deficiency, autosomal recessive",,"Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage ({7:Pung-amritt et al., 1999}; {3:Fischer et al., 2010}), whereas others have recurrent thromboses later in childhood ({2:Comp et al., 1984}).\n\nSee also autosomal dominant thrombophilia due to protein S deficiency (THPH5; {612336}), a less severe disorder caused by heterozygous mutation in the PROS1 gene.",[614514],[743],[Severe hereditary thrombophilia due to congenital protein S deficiency],[16543],,,,, +GARD:1857,Legacy,GARD,,,,,,,,,,,,Die Smulders Droog Van Dijk syndrome,TRUE,FALSE,Active +GARD:18570,Active,Orphanet+OMIM,OMIM:604377,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 2","[cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1]","Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see {256000}). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; {253300}). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by {4:Papadopoulou et al., 1999}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[604377],[1561],[Fatal infantile cytochrome C oxidase deficiency],[16569],,,,, +GARD:18571,Active,Orphanet+OMIM,OMIM:615119,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 6","[Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2]","Mitochondrial complex IV deficiency nuclear type 6 (MC4DN6) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Manifestations include hypotonia, feeding difficulties, and global developmental delay. Many, but not all, patients develop hypertrophic cardiomyopathy, which may result in early death. Additional more variable features may include poor overall growth, microcephaly, seizures, neurodegeneration, spasticity, visual defects, retinopathy, and hepatic steatosis. Brain imaging in some patients shows features consistent with Leigh syndrome (see {256000}). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by {4:Kennaway et al., 1990} and {5:Oquendo et al., 2004}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[615119],[1561],[Fatal infantile cytochrome C oxidase deficiency],[16569],,,,, +GARD:18572,Active,Orphanet+OMIM,OMIM:616500,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 9","[Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3]","Mitochondrial complex IV deficiency nuclear type 9 (MC4DN9) is an autosomal recessive multisystem metabolic disorder characterized by neonatal hypertrophic cardiomyopathy resulting in death in early infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Huigsloot et al., 2011}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[616500],[1561],[Fatal infantile cytochrome C oxidase deficiency],[16569],,,,, +GARD:18573,Active,Orphanet+OMIM,OMIM:616501,Subtype of disorder,[Disease subtype],"Mitochondrial complex iv deficiency, nuclear type 13","[Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4]","Mitochondrial complex IV deficiency nuclear type 13 (MC4DN13) is an autosomal recessive metabolic disorder characterized by the onset of hypertrophic cardiomyopathy soon after birth. Affected individuals have hypotonia, weakness, and failure to thrive, resulting in death in infancy. Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Baertling et al., 2015}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}.",[616501],[1561],[Fatal infantile cytochrome C oxidase deficiency],[16569],,,,, +GARD:18574,Active,Orphanet+OMIM,OMIM:176860,Subtype of disorder,[Disease subtype],"Thrombophilia due to protein c deficiency, autosomal dominant","[proc deficiency, autosomal dominant, Protein c deficiency, autosomal dominant]","Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic ({23:Millar et al., 2000}). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency ({4:Bertina et al., 1984}).\n\nAcquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. {8:Clouse and Comp (1986)} reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.",[176860],[745],[Severe hereditary thrombophilia due to congenital protein C deficiency],[16544],,,,, +GARD:18575,Active,Orphanet+OMIM,OMIM:155601,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 2",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {19:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 ({155600}).",[155601],[618],[Familial melanoma],[3460],,,,, +GARD:18576,Active,Orphanet+OMIM,OMIM:155700,Subtype of disorder,[Disease subtype],"Melanoma, malignant familial intraocular",,"{1:Bowen et al. (1964)} reported malignant intraocular melanoma in a 45-year-old white female and her 26-year-old daughter. {3:Davenport (1927)} reported this malignancy in 3 successive generations. The occurrence of cutaneous melanoma and intraocular melanoma as double primary cancers in the same patient and in different members of the same family has suggested that these 2 forms of melanoma may be etiologically related. From their family studies, {4:Greene et al. (1983)} concluded that these associations may be coincidental.",[155700],[618],[Familial melanoma],[3460],,,,, +GARD:18577,Active,Orphanet+OMIM,OMIM:608035,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 4",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {2:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma (CMM), see {155600}.",[608035],[618],[Familial melanoma],[3460],,,,, +GARD:18578,Active,Orphanet+OMIM,OMIM:609048,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 3",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {2:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of malignant melanoma, see {155600}.",[609048],[618],[Familial melanoma],[3460],,,,, +GARD:18579,Active,Orphanet+OMIM,OMIM:613099,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 5",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {3:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of malignant melanoma, see {155600}.",[613099],[618],[Familial melanoma],[3460],,,,, +GARD:1858,Legacy,GARD,,,,,,,,,,,,Die Smulders Vles Fryns syndrome,TRUE,FALSE,Active +GARD:18580,Active,Orphanet+OMIM,OMIM:613972,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 6",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {1:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma, see {155600}.",[613972],[618],[Familial melanoma],[3460],,,,, +GARD:18581,Active,Orphanet+OMIM,OMIM:615134,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 9",,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {1:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of malignant melanoma, see {155600}.",[615134],[618],[Familial melanoma],[3460],,,,, +GARD:18582,Active,Orphanet+OMIM,OMIM:615848,Subtype of disorder,[Disease subtype],"Melanoma, cutaneous malignant, susceptibility to, 10",,,[615848],[618],[Familial melanoma],[3460],,,,, +GARD:18583,Active,Orphanet+OMIM,OMIM:143870,Subtype of disorder,[Disease subtype],"Hypercalciuria, absorptive, 2","[Hypercalciuria, familial idiopathic]",,[143870],[2197],[Idiopathic hypercalciuria],[16587],,,,, +GARD:18584,Active,Orphanet+OMIM,OMIM:607258,Subtype of disorder,[Disease subtype],"Hypercalciuria, absorptive, 1",,"For a phenotypic description and a discussion of genetic heterogeneity of absorptive hypercalciuria, see {143870}.\n\n{2:Imamura et al. (1998)} reported the cases of 2 unrelated girls with multiple malformations, each of whom had an unbalanced translocation chromosome with deletion of the 4q33-qter segment and addition of a segment from another unidentified chromosome. One of the 2 girls had asymptomatic kidney stones. Both had excess urinary calcium excretion, exaggerated excretion on oral calcium load, and reduced but excessive excretion on restricted calcium intake. The urinary calcium excretion of their parents was normal. Both girls were thus diagnosed to have sporadic absorptive hypercalciuria. {2:Imamura et al. (1998)} suggested that the 4q33-qter segment contains the putative gene for absorptive hypercalciuria.\n\n{3:Townes et al. (1979)} recognized deletion of the terminal region of the long arm of chromosome 4 as a distinct syndrome. The syndrome comprises minor facial anomalies, cleft palate, limb and digital abnormalities (especially of the fifth finger), congenital heart defects, postnatal growth deficiency, and developmental delay. {1:Giuffre et al. (2004)} described a newborn girl with a de novo terminal 4q deletion (4q31.3-qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal growth deficiency. Excessive urinary calcium excretion on standard milk formula and on oral calcium load was found. At 2 months of age, ultrasound showed kidney calcifications. Clinical and laboratory data supported the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium-sensing receptors in the renal tubules. The findings supported the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of 4q.",[607258],[2197],[Idiopathic hypercalciuria],[16587],,,,, +GARD:18585,Active,Orphanet+OMIM,OMIM:615237,Subtype of disorder,[Morphological anomaly subtype],Congenital short bowel syndrome,,"Infants with congenital short bowel syndrome (CSBS) are born with a shortened small intestine, with a mean length of 50 cm compared to the normal length of 190 to 280 cm, and intestinal malrotation. Severe malnutrition develops as a result of the hugely reduced absorptive surface of the small intestine, and infants require parenteral nutrition for survival; however, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life (summary by {8:van der Werf et al., 2012}).\n\nA possible form of congenital short bowel syndrome (see {300048}) is caused by mutation in the FLNA gene ({300017}) on chromosome Xq28.",[615237],[2301],[Congenital short bowel syndrome],[16592],,,,, +GARD:18586,Active,Orphanet+OMIM,OMIM:164750,Subtype of disorder,[Morphological anomaly subtype],"Omphalocele, autosomal",,"An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis ({230750}), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by {1:Bugge, 2010}). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, {13:Yang et al. (1992)} concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects.\n\nOmphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome ({130650}) and the Shprintzen-Goldberg syndrome ({182210}).",[164750],[660],[Omphalocele],[16540],,,,, +GARD:18587,Active,Orphanet+OMIM,OMIM:310980,Subtype of disorder,[Morphological anomaly subtype],"Omphalocele, x-linked",,,[310980],[660],[Omphalocele],[16540],,,,, +GARD:18588,Active,Orphanet+OMIM,OMIM:617524,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 2,,"Erythrokeratodermia variabilis et progressiva-2 is a genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location. The severity and dominating features of the disease vary strikingly within families and also during an individual's course of disease. The erythematous component usually prevails in young children, whereas hyperkeratosis is the dominant or sole feature in adults. Some patients with EKVP2 display lesions resembling erythema gyratum repens (summary by {4:Richard et al., 2003}). EKVP was previously thought to be separate disorders: erythrokeratodermia variabilis (EKV) and progressive symmetric erythrokeratodermia (PSEK) ({5:van Steensel et al., 2009}).\n\nFor a discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[617524],[317],[Erythrokeratodermia variabilis],[16528],,,,, +GARD:18589,Active,Orphanet+OMIM,OMIM:617525,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 3,,"Erythrokeratodermia variabilis et progressiva is a rare skin disease. Patients with EKVP3 have normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema (summary by {1:Boyden et al., 2015}).\n\nFor a discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[617525],[317],[Erythrokeratodermia variabilis],[16528],,,,, +GARD:1859,Active,Orphanet,ORPHA:1916,Disorder,[Malformation syndrome],Diethylstilbestrol syndrome,"[DES embryofetopathy, DES syndrome, Diethylstilbestrol embryofetopathy, Distilbene embryofetopathy]","A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.",,,,,,Diethylstilbestrol syndrome,TRUE,FALSE,Active +GARD:18590,Active,Orphanet+OMIM,OMIM:617526,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 4,,"Erythrokeratodermia variabilis et progressiva-4 is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet (summary by {1:Boyden et al., 2017}).\n\nFor a discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[617526],[317],[Erythrokeratodermia variabilis],[16528],,,,, +GARD:18591,Active,Orphanet+OMIM,OMIM:129490,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant","[Ectodermal dysplasia, hypohidrotic, autosomal dominant]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {2:Cluzeau et al., 2011}).",[129490],[1810],[Autosomal dominant hypohidrotic ectodermal dysplasia],[2048],,,,, +GARD:18592,Active,Orphanet+OMIM,OMIM:614940,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant","[Ectodermal dysplasia, hypohidrotic, autosomal dominant]","Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {3:Cluzeau et al., 2011}).",[614940],[1810],[Autosomal dominant hypohidrotic ectodermal dysplasia],[2048],,,,, +GARD:18593,Active,Orphanet+OMIM,OMIM:617337,Subtype of disorder,[Etiological subtype],"Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type",,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {1:Cluzeau et al., 2011}).",[617337],[1810],[Autosomal dominant hypohidrotic ectodermal dysplasia],[2048],,,,, +GARD:18594,Active,Orphanet+OMIM,OMIM:181000,Subtype of disorder,[Disease subtype],"Sarcoidosis, susceptibility to, 1","[boeck sarcoid, Sarcoidosis]",,[181000],[797],[Sarcoidosis],[7607],,,,, +GARD:18595,Active,Orphanet+OMIM,OMIM:612387,Subtype of disorder,[Disease subtype],"Sarcoidosis, susceptibility to, 2",,,[612387],[797],[Sarcoidosis],[7607],,,,, +GARD:18596,Active,Orphanet+OMIM,OMIM:612388,Subtype of disorder,[Disease subtype],"Sarcoidosis, susceptibility to, 3",,"For a general description and a discussion of genetic heterogeneity of sarcoidosis, see {181000}.",[612388],[797],[Sarcoidosis],[7607],,,,, +GARD:18597,Active,Orphanet+OMIM,OMIM:173900,Subtype of disorder,[Disease subtype],Polycystic kidney disease 1 with or without polycystic liver disease,"[potter type iii polycystic kidney disease, formerly, polycystic kidney disease, adult, type i, Polycystic kidney disease, adult]","PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by {114:Wu and Somlo, 2000}).\n\n<Subhead> Genetic Heterogeneity of Polycystic Kidney Disease\n\nAlso see polycystic kidney disease-2 (PKD2; {613095}), caused by mutation in the PKD2 gene ({173910}) on chromosome 4q22; PKD3 ({600666}), caused by mutation in the GANAB gene ({104160}) on chromosome 11q13; PKD4 ({263200}), caused by mutation in the PKHD1 gene ({606702}) on chromosome 6p12; PKD5 ({617610}), caused by mutation in the DZIP1L gene ({617570}) on chromosome 3q22; and PKD6 ({618061}), caused by mutation in the DNAJB11 gene ({611341}) on chromosome 3q27.",[173900],[730],[Autosomal dominant polycystic kidney disease],[10413],,,,, +GARD:18598,Active,Orphanet+OMIM,OMIM:600666,Subtype of disorder,[Disease subtype],Polycystic kidney disease 3 with or without polycystic liver disease,"[Polycystic kidney disease, adult, type iii]","Polycystic kidney disease-3, a form of autosomal dominant PKD (ADPKD), is characterized by renal cysts, often associated with liver cysts, that may lead to organ dysfunction. Affected individuals usually present in mid to late adulthood with progressive cysts in the kidney and/or liver. The renal disease is relatively mild, and only some patients develop hypertension; renal insufficiency usually does not occur. The liver disease shows a wide spectrum of severity: some patients have no cysts, whereas others have severe liver involvement (summary by {2:Porath et al., 2016}).\n\nFor a discussion of genetic heterogeneity of PKD, see PKD1 ({173900}).",[600666],[730],[Autosomal dominant polycystic kidney disease],[10413],,,,, +GARD:18599,Active,Orphanet+OMIM,OMIM:613095,Subtype of disorder,[Disease subtype],Polycystic kidney disease 2 with or without polycystic liver disease,"[Polycystic kidney disease, adult, type ii]",,[613095],[730],[Autosomal dominant polycystic kidney disease],[10413],,,,, +GARD:18600,Active,Orphanet+OMIM,OMIM:614839,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 10 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614839],[432],[Normosmic congenital hypogonadotropic hypogonadism],[16533],,,,, +GARD:18601,Active,Orphanet+OMIM,OMIM:614842,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 13 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {1:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614842],[432],[Normosmic congenital hypogonadotropic hypogonadism],[16533],,,,, +GARD:18602,Active,Orphanet+OMIM,OMIM:125700,Subtype of disorder,[Clinical subtype],"Diabetes insipidus, neurohypophyseal","[diabetes insipidus, cranial type, Diabetes insipidus, primary central]","Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood (summary by {28:Wahlstrom et al., 2004}).",[125700],[30925],[Hereditary central diabetes insipidus],[16629],,,,, +GARD:18603,Active,Orphanet+OMIM,OMIM:304900,Subtype of disorder,[Clinical subtype],"Diabetes insipidus, neurohypophyseal, x-linked",,,[304900],[30925],[Hereditary central diabetes insipidus],[16629],,,,, +GARD:18604,Active,Orphanet+OMIM,OMIM:300557,Subtype of disorder,[Disease subtype],Parkinson disease 12,,"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.",[300557],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18605,Active,Orphanet+OMIM,OMIM:605909,Subtype of disorder,[Disease subtype],"Parkinson disease 6, autosomal recessive early-onset","[Parkinson disease 6, early-onset]",,[605909],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18606,Active,Orphanet+OMIM,OMIM:606324,Subtype of disorder,[Disease subtype],"Parkinson disease 7, autosomal recessive early-onset",,,[606324],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18607,Active,Orphanet+OMIM,OMIM:606852,Subtype of disorder,[Disease subtype],Parkinson disease 10,,"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.",[606852],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18608,Active,Orphanet+OMIM,OMIM:610297,Subtype of disorder,[Disease subtype],"Parkinson disease 13, autosomal dominant, susceptibility to",,,[610297],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18609,Active,Orphanet+OMIM,OMIM:613643,Subtype of disorder,[Disease subtype],"Parkinson disease 5, autosomal dominant, susceptibility to",,,[613643],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:1861,Active,Orphanet,ORPHA:2123,Disorder,[Malformation syndrome],Diffuse neonatal hemangiomatosis,,"Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.",,,,,,Diffuse neonatal hemangiomatosis,TRUE,FALSE,Active +GARD:18610,Active,Orphanet+OMIM,OMIM:616840,Subtype of disorder,[Disease subtype],"Parkinson disease 23, autosomal recessive early-onset",,"Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by {1:Lesage et al., 2016}).",[616840],[2828],[Young-onset Parkinson disease],[16610],,,,, +GARD:18611,Active,Orphanet+OMIM,OMIM:108770,Subtype of disorder,[Disease subtype],Atrial standstill 1,"[Atrial cardiomyopathy with heart block, cardiomyopathy, familial, with conduction disturbance]","Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by {3:Fazelifar et al., 2005}).",[108770],[1344],[Atrial standstill],[16564],,,,, +GARD:18612,Active,Orphanet+OMIM,OMIM:615745,Subtype of disorder,[Disease subtype],Atrial standstill 2,"[Atrial dilation and standstill, cardiomyopathy, atrial dilated, with atrial standstill]","Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by {3:Fazelifar et al., 2005}).",[615745],[1344],[Atrial standstill],[16564],,,,, +GARD:18613,Active,Orphanet+OMIM,OMIM:602247,Subtype of disorder,[Disease subtype],"Xanthomatosis, susceptibility to",,"{1:Vergopoulos et al. (1997)} studied a consanguineous Syrian kindred containing 6 individuals homozygous for a cys646-to-arg mutation in the LDLR gene ({606945}) resulting in familial hypercholesterolemia ({143890}). Half of the homozygotes had giant xanthomas, while half did not, even though their LDL-cholesterol concentrations were elevated to similar degrees. Heterozygous FH individuals in this family were also clearly distinguishable with respect to xanthoma size. Segregation analysis suggested the existence in this family of a second gene that determined the development of giant xanthomas when present in combination with the cys646-to-arg mutation.",[602247],[391665],[Homozygous familial hypercholesterolemia],[10416],,,,, +GARD:18614,Active,Orphanet+OMIM,OMIM:603813,Subtype of disorder,[Disease subtype],"Hypercholesterolemia, familial, 4","[fhcb1, formerly, hypercholesterolemia, autosomal recessive, 2, formerly, hypercholesterolemia, autosomal recessive, 1, formerly, fhcb2, formerly, Hypercholesterolemia, autosomal recessive]","Autosomal recessive familial hypercholesterolemia-4 (FCHL4) is a rare monogenic disease characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease (summary by {14:Sanchez-Hernandez et al., 2018}).",[603813],[391665],[Homozygous familial hypercholesterolemia],[10416],,,,, +GARD:18615,Active,Orphanet,ORPHA:300751,Disorder,[Disease],Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,,"A rare familial cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy.",[115200],,,,,,,, +GARD:18616,Active,Orphanet+OMIM,OMIM:159900,Subtype of disorder,[Disease subtype],"Dystonia 11, myoclonic","[myoclonus, hereditary essential, Myoclonus-dystonia syndrome, myoclonic dystonia, dystonia, alcohol-responsive]","Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal muscles. Dystonia, usually torticollis or writer's cramp, is observed in most patients, but occasionally can be the only symptom of the disorder. Onset of the disorder is usually in the first or second decade. Symptoms often respond to alcohol, and patients may also have psychiatric abnormalities ({42:Valente et al., 2003}; {38:Schule et al., 2004}).",[159900],[36899],[Myoclonus-dystonia syndrome],[7139],,,,, +GARD:18617,Active,Orphanet+OMIM,OMIM:300672,Subtype of disorder,"[Clinical syndrome subtype, Disease subtype]",Developmental and epileptic encephalopathy 2,"[infantile spasm syndrome, x-linked 2, Epileptic encephalopathy, early infantile, 2]","Developmental and epileptic encephalopathy-2 (DEE2) is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in impaired intellectual development and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome ({312750}), but DEE2 is considered to be a distinct entity (summary by {4:Fehr et al., 2013}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.",[300672],"[1934, 3095, 3451]","[Early infantile epileptic encephalopathy, Infantile spasms syndrome, Atypical Rett syndrome]","[7887, 9255, 4694]",,,,, +GARD:18619,Active,Orphanet+OMIM,OMIM:606070,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 21,"[Multisystem proteinopathy 5, vocal cord and pharyngeal dysfunction with distal myopathy, formerly, myopathy, distal, 2, formerly]","Amyotrophic lateral sclerosis-21 (ALS21) is an autosomal dominant neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia (summary by {2:Johnson et al., 2014}).\n\nFor a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400}).",[606070],[803],[Amyotrophic lateral sclerosis],[5786],,,,, +GARD:1862,Active,Orphanet,ORPHA:2337,Disorder,[Disease],Non-epidermolytic palmoplantar keratoderma,"[Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type, Diffuse palmoplantar keratoderma, Bothnian type, NEPPK]","A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by diffuse, homogeneous, mild to thick, yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers), which presents a white spongy appearance following exposure to water, frequently associated with dermatophyte infections. Hyperhydrosis is usually present and skin biopsy shows non-epidermolytic changes.",[600231],,,,,"Diffuse palmoplantar keratoderma, Bothnian type",TRUE,FALSE,Active +GARD:18620,Active,Orphanet+OMIM,OMIM:610489,Subtype of disorder,[Disease subtype],"Pigmented nodular adrenocortical disease, primary, 1","[cushing syndrome, adrenal, due to ppnad1, adrenocortical nodular dysplasia, primary, Pigmented micronodular adrenocortical disease, primary, 1]","Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1; {160980}), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation ({3:Groussin et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical Disease\n\nSee also PPNAD2 ({610475}), caused by mutation in the PDE11A gene ({604961}) on chromosome 2q31; PPNAD3 ({614190}), caused by mutation in the PDE8B gene ({603390}) on chromosome 5q13; and PPNAD4 ({615830}), caused by a duplication on chromosome 19p13 that includes the PRKACA gene ({601639}).",[610489],[189439],[Primary pigmented nodular adrenocortical disease],[10906],,,,, +GARD:18621,Active,Orphanet+OMIM,OMIM:615878,Subtype of disorder,[Clinical subtype],"Cholestasis, progressive familial intrahepatic, 4",,,[615878],[79304],[Progressive familial intrahepatic cholestasis type 2],[1288],,,,, +GARD:18622,Active,Orphanet+OMIM,OMIM:616266,Subtype of disorder,[Malformation syndrome subtype],"Congenital contractures of the limbs and face, hypotonia, and developmental delay",,"CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by {1:Chong et al., 2015}).",[616266],"[2053, 1147]","[Freeman-Sheldon syndrome, Sheldon-Hall syndrome]","[16556, 6466]",,,,, +GARD:18623,Active,Orphanet+OMIM,OMIM:156200,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal dominant 1","[Mental retardation, autosomal dominant 1]",,[156200],[178469],[Autosomal dominant non-syndromic intellectual disability],[12107],,,,, +GARD:18624,Active,Orphanet+OMIM,OMIM:614381,Subtype of disorder,[Clinical subtype],"Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism","[cerebellar hypoplasia with endosteal sclerosis, 4h leukodystrophy 2]","Hypomyelinating leukodystrophy-8 (HLD8) is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by {9:Tetreault et al., 2011}).\n\nSee also HLD7 ({607694}), which has similar features and is caused by mutation in the POLR3A gene ({614258}) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.",[614381],[88637],[Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome],[16771],,,,, +GARD:18625,Active,Orphanet+OMIM,OMIM:600165,Subtype of disorder,[Malformation syndrome subtype],Nanophthalmos 1,,"Autosomal dominant nanophthalmos is characterized by a small eye, as indicated by short axial length, high hyperopia, high lens/eye volume ratio, and a high incidence of angle-closure glaucoma (summary by {3:Othman et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Nanophthalmos\n\nNanophthalmos-1 (NNO1) has been mapped to chromosome 11p. Nanophthalmos-2 (NNO2; {609549}) is caused by mutation in the MFRP gene ({606227}) on chromosome 11q23. Nanophthalmos-3 (NNO3; {611897}) has been mapped to chromosome 2q11-q14. Nanophthalmos-4 (NNO4; {615972}) is caused by mutation in the TMEM98 gene ({615949}) on chromosome 17q11.",[600165],[35612],[Nanophthalmos],[16637],,,,, +GARD:18626,Active,Orphanet+OMIM,OMIM:609549,Subtype of disorder,[Malformation syndrome subtype],Nanophthalmos 2,"[Nanophthalmia 2, nanophthalmos, autosomal recessive]",,[609549],[35612],[Nanophthalmos],[16637],,,,, +GARD:18627,Active,Orphanet+OMIM,OMIM:611897,Subtype of disorder,[Malformation syndrome subtype],Nanophthalmos 3,,"For a general phenotypic description and a discussion of genetic heterogeneity of nanophthalmos, see NNO1 ({600165}).",[611897],[35612],[Nanophthalmos],[16637],,,,, +GARD:18628,Active,Orphanet+OMIM,OMIM:613517,Subtype of disorder,[Malformation syndrome subtype],"Microphthalmia, isolated 6","[Microphthalmia, posterior nonsyndromic]","Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by {5:Gal et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 ({251600}).",[613517],[35612],[Nanophthalmos],[16637],,,,, +GARD:18629,Active,Orphanet+OMIM,OMIM:615972,Subtype of disorder,[Malformation syndrome subtype],Nanophthalmos 4,[Nanophthalmia 4],"Nanophthalmos is characterized by axial lengths of the ocular globe that are more than 2 SDs smaller than the normal range, or less than 20 mm in adults, with a cornea and lens that are typically of normal size, associated with severe hyperopia (farsightedness) of +7.00 diopters or more. The smaller dimensions of the anterior chamber depth cause the iridocorneal angle to be typically narrow. Abnormal thickening of the scleral connective tissue is often observed (summary by {1:Awadalla et al., 2014}).\n\nFor a discussion of genetic heterogeneity of nanophthalmos, see NNO1 ({600165}).",[615972],[35612],[Nanophthalmos],[16637],,,,, +GARD:1863,Legacy,GARD,,,,,,,,,,,,Gastric duplication cysts,TRUE,FALSE,Active +GARD:18630,Active,Orphanet+OMIM,OMIM:227300,Subtype of disorder,[Disease subtype],"Factor v and factor viii, combined deficiency of, 1","[fmfd i, Familial multiple coagulation factor deficiency i, multiple coagulation factor deficiency i]","Combined deficiency of factor V ({612309}) and factor VIII ({300841}) is characterized by bleeding symptoms similar to those in hemophilia ({306700}) or parahemophilia ({227400}), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by {17:Zhang and Ginsburg, 2004}).\n\n<Subhead> Genetic Heterogeneity of Combined Deficiency of Factor V and Factor VIII\n\nAnother form of combined deficiency of factor V and factor VII (F5F8D2; {613625}) is caused by mutation in the MCFD2 gene ({607788}) on chromosome 2.",[227300],[35909],[Combined deficiency of factor V and factor VIII],[16639],,,,, +GARD:18631,Active,Orphanet+OMIM,OMIM:227310,Subtype of disorder,[Disease subtype],"Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor",,"{1:Rahim Adam et al. (1985)} reported a hemorrhagic diathesis due to combined deficiency of factors V and VIII in a Syrian brother and sister. Unlike reported cases, no abnormality of protein C ({612283}) or its inhibitor was found. Both parents and 1 of 3 clinically normal sibs had levels of factors V and VIII greater than 10% but less than 50% of normal.",[227310],[35909],[Combined deficiency of factor V and factor VIII],[16639],,,,, +GARD:18632,Active,Orphanet+OMIM,OMIM:613625,Subtype of disorder,[Disease subtype],"Factor v and factor viii, combined deficiency of, 2",,"Combined deficiency of factor V ({612309}) and factor VIII ({300841}) is characterized by bleeding symptoms similar to those in hemophilia ({306700}) or parahemophilia ({227400}), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by {3:Zhang and Ginsburg, 2004}).",[613625],[35909],[Combined deficiency of factor V and factor VIII],[16639],,,,, +GARD:18633,Active,Orphanet+OMIM,OMIM:609620,Subtype of disorder,[Disease subtype],Short qt syndrome 1,,"Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by {7:Moreno et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Short QT Syndrome\n\nShort QT syndrome-2 (SQT2; {609621}) is caused by mutation in the KCNQ1 gene ({607542}). SQT3 ({609622}) is caused by mutation in the KCNJ2 gene ({600681}).",[609620],[51083],[Familial short QT syndrome],[16650],,,,, +GARD:18634,Active,Orphanet+OMIM,OMIM:609621,Subtype of disorder,[Disease subtype],Short qt syndrome 2,,"Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by {3:Moreno et al., 2015}).\n\nFor a discussion of genetic heterogeneity of short QT syndrome, see SQT1 ({609620}).",[609621],[51083],[Familial short QT syndrome],[16650],,,,, +GARD:18635,Active,Orphanet+OMIM,OMIM:609622,Subtype of disorder,[Disease subtype],Short qt syndrome 3,,"Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by {1:Moreno et al., 2015}).\n\nFor a discussion of genetic heterogeneity of short QT syndrome, see SQT1 ({609620}).",[609622],[51083],[Familial short QT syndrome],[16650],,,,, +GARD:18636,Active,Orphanet+OMIM,OMIM:264700,Subtype of disorder,[Disease subtype],"Vitamin d hydroxylation-deficient rickets, type 1a","[1-alpha, 25-hydroxyvitamin d3 deficiency, selective, pseudovitamin d-deficiency rickets, type ia, 25-hydroxycholecalciferol-1-hydroxylase deficiency, 1-alpha-hydroxylase deficiency, vitamin d dependency, type 1, Vitamin d-dependent rickets, type 1a, pddr ia]","Vitamin D3 (cholecalciferol), synthesized in the epidermis in response to UV radiation, and dietary vitamin D2 (ergocalciferol, synthesized in plants) are devoid of any biologic activity. Vitamin D hormonal activity is due primarily to the hydroxylated metabolite of vitamin D3, 1-alpha,25-dihydroxyvitamin D3 (calcitriol), the actions of which are mediated by the vitamin D receptor (VDR; {601769}) ({11:Koren, 2006}; {17:Liberman and Marx, 2001}).\n\nIn the liver, vitamin D 25-hydroxylase (CYP2R1; {608713}) catalyzes the initial hydroxylation of vitamin D at carbon 25; in the kidney, 1-alpha-hydroxylase (CYP27B1; {609506}) catalyzes the hydroxylation and metabolic activation of 25-hydroxyvitamin D3 into 1,25-dihydroxyvitamin D3. The active metabolite 1,25(OH)2D3 binds and activates the nuclear vitamin D receptor, with subsequent regulation of physiologic events such as calcium homeostasis and cellular differentiation and proliferation ({25:Takeyama et al., 1997}).\n\nDisorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia ({17:Liberman and Marx, 2001}).\n\n<Subhead> Genetic Heterogeneity of Vitamin D-Dependent Rickets\n\nVitamin D-dependent rickets type 1A (VDDR1A) is due to an enzymatic defect in synthesis of the active form of vitamin D caused by mutation in the CYP27B1 gene. VDDR1B ({600081}) is a form of rickets due to mutation in the gene encoding a vitamin D 25-hydroxylase (CYP2R1; {608713}), another enzyme necessary for the synthesis of active vitamin D. Vitamin D-dependent rickets type 2A (VDDR2A; {277440}) is caused by end-organ unresponsiveness of active vitamin D due to mutation in the gene encoding the vitamin D receptor (VDR; {601769}). VDDR2B ({600785}) is an unusual form of end-organ unresponsiveness to active vitamin D due to an abnormal protein (see HNRNPC, {164020}) that interferes with the function of the VDR. VDDR3 ({619073}) is a dominant form of VDDR caused by accelerated inactivation of vitamin D metabolites due to mutation in the CYP3A4 gene ({124010}).\n\n<Subhead> Other Forms of Hypophosphatemic Rickets\n\nFor a discussion of other forms of hypophosphatemic rickets, see ADHR ({193100}).",[264700],[289157],[Hypocalcemic vitamin D-dependent rickets],[17319],,,,, +GARD:18637,Active,Orphanet+OMIM,OMIM:105250,Subtype of disorder,[Disease subtype],"Amyloidosis, primary localized cutaneous, 1","[Amyloidosis, primary cutaneous, 1, amyloidosis, familial cutaneous lichen, pca, lichen amyloidosis, familial, amyloidosis ix]","Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by {16:Tanaka et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Primary Localized Cutaneous Amyloidosis\n\nPrimary localized cutaneous amyloidosis-2 (PLCA2; {613955}) is caused by heterozygous mutation in the IL31RA gene ({609510}) on chromosome 5q11. Primary localized cutaneous amyloidosis-3 (PLCA3; {617920}) is caused by mutation in the GPNMB gene ({604368}) on chromosome 7p15.",[105250],[353220],[Familial primary localized cutaneous amyloidosis],[17533],,,,, +GARD:18638,Active,Orphanet+OMIM,OMIM:613955,Subtype of disorder,[Disease subtype],"Amyloidosis, primary localized cutaneous, 2",,"Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by {2:Tanaka et al., 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of PLCA, see {105250}.",[613955],[353220],[Familial primary localized cutaneous amyloidosis],[17533],,,,, +GARD:18639,Active,Orphanet,ORPHA:316,Disorder,[Disease],Progressive symmetric erythrokeratodermia,"[Darier-Gottron disease, Erythrokeratodermia progressiva symmetrica, Progressive symmetric erythrokeratodermia, Gottron type]",,"[617756, 619209, 618531]",,,,,,,, +GARD:1864,Legacy,GARD,,,,,,,,,,,,Digitorenocerebral syndrome,TRUE,FALSE,Retired +GARD:18640,Active,Orphanet,ORPHA:777,Subtype of disorder,[Etiological subtype],X-linked non-syndromic intellectual disability,,,"[300919, 300716, 300433, 300210, 300558, 300355, 300436, 300428, 300705, 300046, 300271, 300983, 300047, 301013, 300454, 300505, 309549, 300984, 300802, 300324, 300498, 300803, 309530, 300143, 300978, 300419, 300928, 300115, 300848, 300849, 300850, 300372, 300851, 300852, 300844, 300518, 300387, 300062]",,,,,,,, +GARD:18641,Active,Orphanet,ORPHA:36387,Disorder,[Disease],Generalized epilepsy with febrile seizures-plus,"[GEFS+, Genetic epilepsy with febrile seizures-plus]",Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).,"[618482, 604403, 604233, 613060, 613863, 616172, 613828, 612279, 609800]",,,,,,,, +GARD:18642,Active,Orphanet,ORPHA:46532,Disorder,[Disease],Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,[HPFH-beta-thalassemia syndrome],Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.,"[141749, 305435, 142335, 613566, 142470]",,,,,,,, +GARD:18643,Active,Orphanet,ORPHA:88616,Subtype of disorder,[Etiological subtype],Autosomal recessive non-syndromic intellectual disability,"[AR-NSID, NS-ARID]",,"[616739, 614329, 617125, 611093, 614208, 615979, 613192, 618687, 616887, 614333, 614202, 616460, 614020, 618109, 249500, 617188, 614249, 615817, 614343, 611107, 608443, 614344, 618402, 618221, 614345, 615942, 616116, 614346, 614499, 617816, 614347, 611095, 614340, 611096, 614341, 617709, 616193, 614342, 611097, 617028, 607417, 611090, 611091, 615802, 611092]",,,,,,,, +GARD:18644,Active,Orphanet,ORPHA:90636,Subtype of disorder,[Etiological subtype],Autosomal recessive non-syndromic sensorineural deafness type DFNB,"[Autosomal recessive isolated neurosensory deafness type DFNB, Autosomal recessive isolated neurosensory hearing loss type DFNB, Autosomal recessive isolated sensorineural deafness type DFNB, Autosomal recessive isolated sensorineural hearing loss type DFNB, Autosomal recessive non-syndromic neurosensory deafness type DFNB, Autosomal recessive non-syndromic neurosensory hearing loss type DFNB, Autosomal recessive non-syndromic sensorineural hearing loss type DFNB]",,"[617654, 616515, 608653, 600791, 602092, 609823, 609946, 600974, 618410, 600060, 619093, 619174, 604060, 608264, 618456, 615974, 601072, 610248, 603098, 605428, 603629, 618481, 612645, 613865, 610265, 613307, 616705, 610419, 613453, 615429, 607821, 605818, 614617, 615837, 614944, 610153, 612433, 612789, 600971, 607084, 609647, 600792, 614861, 609439, 608219, 607101, 614934, 610143, 618434, 609941, 601071, 609006, 608265, 613391, 603678, 613718, 615540, 613079, 610220, 610212, 220290, 618257, 608565, 616042, 617639, 613916, 613285, 601386, 609706, 609533, 613685, 607239, 611022, 614899, 614035, 611451, 601869, 603720, 618145, 617637, 603010, 600316, 614414, 607039, 618422, 614945, 610154, 609646, 609952, 613392]",,,,,,,, +GARD:18645,Active,Orphanet,ORPHA:93592,Subtype of disorder,[Clinical subtype],Juvenile nephronophthisis,,,"[615382, 256100]",,,,,,,, +GARD:18646,Active,Orphanet,ORPHA:137634,Disorder,[Malformation syndrome],Overgrowth-macrocephaly-facial dysmorphism syndrome,,"A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.",[613675],,,,,,,, +GARD:18647,Active,Orphanet,ORPHA:168615,Disorder,[Biological anomaly],Hereditary persistence of alpha-fetoprotein,,"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy",[615970],,,,,,,, +GARD:18648,Active,Orphanet,ORPHA:251380,Disorder,[Disease],Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,[HPFH-sickle cell disease syndrome],"A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.","[141749, 305435, 142335, 613566, 142470]",,,,,,,, +GARD:18649,Active,Orphanet,ORPHA:254913,Disorder,[Disease],Isolated ATP synthase deficiency,[Isolated mitochondrial respiratory chain complex V deficiency],"Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).","[604273, 618120, 615228, 618683, 614053]",,,,,,,, +GARD:18650,Active,Orphanet,ORPHA:280654,Disorder,[Disease],Autosomal recessive nail dysplasia,,"Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.",[161050],,,,,,,, +GARD:18651,Active,Orphanet,ORPHA:363989,Disorder,[Disease],Familial benign flecked retina,,"Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.",[228980],,,,,,,, +GARD:18652,Active,Orphanet,ORPHA:440713,Disorder,[Disease],Isolated sedoheptulokinase deficiency,[Isolated SHPK deficiency],"A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythritol, and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear.",[617213],,,,,,,, +GARD:18653,Active,Orphanet,ORPHA:443950,Disorder,[Disease],DNAJB2-related Charcot-Marie-Tooth disease type 2,[DNAJB2-related CMT2],"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation.",[614881],,,,,,,, +GARD:18654,Active,Orphanet,ORPHA:444069,Disorder,[Malformation syndrome],Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,,"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth).",[243605],,,,,,,, +GARD:18655,Active,Orphanet,ORPHA:572773,Subtype of disorder,[Clinical subtype],Microcephaly-short stature-limb abnormalities syndrome,[MISSLA],,,,,,,,,, +GARD:18656,Active,Orphanet+OMIM,OMIM:141749,Subtype of disorder,[Disease subtype],Fetal hemoglobin quantitative trait locus 1,"[hereditary persistence of fetal hemoglobin, hb gene cluster-related, Hemoglobin f, hereditary persistence of]","Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations. Expression of the HBG1 and HBG2 genes, which encode the gamma isoforms of HbF, is normally suppressed shortly before birth and replaced by expression of the beta- (HBB; {141900}) or delta- (HBD; {142000}) chains, which form adult hemoglobin. Adults normally have less than 1% HbF, whereas heterozygotes for HPFH have 5 to 30% HbF. HPFH heterozygotes have essentially normal red cell indices and a rather homogeneous distribution of HbF among red cells, termed 'pancellular.' Homozygotes for HPFH can express HbF in up to 100% of red blood cells ({56:Thein and Craig, 1998}).\n\nDelta-beta thalassemia is a hemoglobin disorder characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis from the affected chromosome. Individuals with delta-beta thalassemia have hypochromic, microcytic anemia and increased HbF, which may mitigate the anemia depending on the level of HbF. Delta-beta thalassemia and some forms of HPFH result from deletions within the beta-globin gene cluster on chromosome 11p15; this has been referred to as 'deletional' HPFH. HPFH can also result from point mutations in the promoter regions of the gamma globulin genes HBG1 and HBG2; this has been referred to as 'non-deletional' HPFH ({47:Ottolenghi et al., 1982}; {23:Forget, 1998}).\n\n{23:Forget (1998)} noted that HPFH and delta-beta thalassemia are not clearly distinct disorders, but rather show partially overlapping features that may defy classification. Higher expression of HbF is often termed 'pancellular,' whereas lower expression of HbF is often termed 'heterocellular,' although these represent a spectrum.\n\nApproximately 10% of the population has HPFH manifest as modest elevations of HbF (1 to 4%) present in a subset of red cells (about 4.5%) termed F cells. This is also sometimes referred to as 'heterocellular' HPFH, and is considered to be a multifactorial trait influenced by multiple genetic loci ({56:Thein and Craig, 1998}).",[141749],"[251380, 46532]","[Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome]","[18648, 18642]",,,,, +GARD:18657,Active,Orphanet+OMIM,OMIM:142470,Subtype of disorder,[Disease subtype],Fetal hemoglobin quantitative trait locus 2,,"Fetal hemoglobin (HbF) levels vary considerably in healthy normal adults. The distribution of HbF and F cells, erythrocytes that contain measurable HbF, in healthy adults is continuous, although most adults have HbF of less than 0.6% of total Hb. Approximately 10 to 15% of individuals have increases of HbF ranging from 0.8% to 5%, a trait often referred to as hereditary persistence of fetal hemoglobin (HPFH), usually distributed unevenly among red cells. When coinherited with beta-thalassemia (see {613985}) or sickle cell anemia ({603903}), HPFH can increase HbF output to levels that are clinically beneficial ({8:Thein et al., 2007}).\n\nFor a general phenotypic description and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 ({141749}).",[142470],"[251380, 46532]","[Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome]","[18648, 18642]",,,,, +GARD:18658,Active,Orphanet+OMIM,OMIM:305435,Subtype of disorder,[Disease subtype],Fetal hemoglobin quantitative trait locus 3,,"For a general phenotypic description and a discussion of loci that may affect fetal hemoglobin production, see HBFQTL1 ({141749}).",[305435],"[251380, 46532]","[Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome]","[18648, 18642]",,,,, +GARD:18659,Active,Orphanet+OMIM,OMIM:604233,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 1","[Gefs+, type 1]","Generalized epilepsy with febrile seizures plus type 1 (GEFSP1) is an autosomal dominant neurologic disorder characterized by onset of seizures associated with fever in infancy or early childhood. There is wide phenotypic variability, even within families. In contrast to classic febrile seizures (see, e.g., FEB1, {121210}), which affect approximately 3% of children under 6 years of age and typically spontaneously remit by age 6 years, patients with GEFSP1 either have febrile seizures extending beyond age 6 years or develop epilepsy with afebrile seizures. Other seizure types include absence seizures, partial seizures, myoclonic seizures, and atonic seizures. Some patients may have developmental delay after the onset of seizures (summary by {6:Wallace et al., 1998} and {4:Singh et al., 1999}).\n\n{2:Deprez et al. (2009)} reviewed the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.\n\n<Subhead> Genetic Heterogeneity of GEFS+\n\nGEFS+ is a genetically heterogeneous disorder. See also GEFS+2 ({604403}), caused by mutation in the SCN1A gene ({182389}) on chromosome 2q24; GEFS+3 (see {607681}), caused by mutation in the GABRG2 gene ({137164}) on chromosome 5q34; GEFS+5 ({613060}), associated with variation in the GABRD ({137163}) gene on chromosome 1p36; GEFS+9 ({616172}), caused by mutation in the STX1B gene ({601485}) on chromosome 16p11; GEFS+10 ({618482}), caused by mutation in the HCN1 gene ({602780}) on chromosome 5p12; and GEFS+11 ({602477}), caused by mutation in the HCN2 gene ({602781}) on chromosome 19p13.\n\nSeveral putative loci have also been identified; see GEFS+4 ({609800}), mapped to chromosome 2p24; GEFS+6 ({612279}), mapped to chromosome 8p23-p21; GEFS+7 ({613863}), mapped to chromosome 2q24; and GEFS+8 ({613828}), mapped to chromosome 6q16.3-q22.31.",[604233],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18660,Active,Orphanet+OMIM,OMIM:604273,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 1","[Mitochondrial complex v (atp synthase) deficiency, atpaf2 type]","A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by {3:Mayr et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex V Deficiency\n\nOther nuclear types of mitochondrial complex V deficiency include MC5DN2 ({614052}), caused by mutation in the TMEM70 gene ({612418}) on chromosome 8q21; MC5DN3 ({614053}), caused by mutation in the ATP5E gene (ATP5F1E; {606153}) on chromosome 20q13; MC5DN4 ({615228}), caused by mutation in the ATP5A1 gene (ATP5F1A; {164360}) on chromosome 18q; MC5DN5 ({618120}), caused by mutation in the ATP5D gene (ATP5F1D; {603150}) on chromosome 19p13; and MC5DN6 ({618683}), caused by mutation in the USMG5 gene (ATP5MD; {615204}) on chromosome 10q24.\n\nMutations in the mitochondrial-encoded MTATP6 ({516060}) and MTATP8 ({516070}) genes can also cause mitochondrial complex V deficiency (see, e.g., {500015}).",[604273],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18661,Active,Orphanet+OMIM,OMIM:604403,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 2","[Gefs+, type 2]","Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2) is an autosomal dominant neurologic disorder characterized by the onset of seizures associated with fever in the first months or years of life. Affected individuals continue to have various types of febrile and afebrile seizures later in life, including generalized tonic-clonic seizures (GTCS). Some patients may have offset of seizures in the first or second decades; rare patients may have mildly impaired intellectual development. In contrast, patients with isolated febrile seizures (FEB3A) have onset between ages 6 months and 4 years, show spontaneous remission by age 6 years, and have normal cognition. Mutations in the SCN1A gene thus cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 2, which represents a more severe phenotype (summary by {10:Scheffer and Berkovic, 1997} and {6:Mantegazza et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.",[604403],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18662,Active,Orphanet+OMIM,OMIM:609800,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 4",,"For a general phenotypic description and a discussion of genetic heterogeneity of generalized epilepsy with febrile seizures plus (GEFS+), see {604233}.",[609800],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18663,Active,Orphanet+OMIM,OMIM:612279,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 6",,"For a general phenotypic description and a discussion of genetic heterogeneity of generalized epilepsy with febrile seizures plus (GEFS+), see {604233}.",[612279],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18664,Active,Orphanet+OMIM,OMIM:613828,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 8",,"Generalized epilepsy with febrile seizures-plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. Seizure phenotypes include classic infantile febrile seizures, febrile seizures persisting beyond age 6 years or accompanied by afebrile generalized tonic-clonic seizures (GTCS), generalized or localization-related epilepsy, and more rarely, severe seizures with encephalopathy (summary by {1:Poduri et al., 2009}).\n\nFor a discussion of genetic heterogeneity of GEFS+, see {604233}.",[613828],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18665,Active,Orphanet+OMIM,OMIM:613863,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 7",,"Patients with isolated febrile seizures (FEB3B) usually have onset between ages 5 months to 4 years and show spontaneous remission by age 6 years (summary by {5:Singh et al., 2009}), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by {6:Singh et al., 1999}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.",[613863],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18666,Active,Orphanet+OMIM,OMIM:614053,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 3","[Mitochondrial complex v (atp synthase) deficiency, atp5e type]",,[614053],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18667,Active,Orphanet+OMIM,OMIM:615228,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 4","[Mitochondrial complex v (atp synthase) deficiency, atp5a1 type]",,[615228],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18668,Active,Orphanet+OMIM,OMIM:616172,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 9","[Gefs+, type 9]","Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities (summary by {2:Schubert et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.",[616172],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18669,Active,Orphanet+OMIM,OMIM:617756,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 5,,,[617756],[316],[Progressive symmetric erythrokeratodermia],[18639],,,,, +GARD:18670,Active,Orphanet+OMIM,OMIM:618120,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 5","[Mitochondrial complex v (atp synthase) deficiency, atp5f1d type]",,[618120],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18671,Active,Orphanet+OMIM,OMIM:618482,Subtype of disorder,[Disease subtype],"Generalized epilepsy with febrile seizures plus, type 10","[Gefs+, type 10]","Generalized epilepsy with febrile seizures plus-10 (GEFSP10) is a seizure disorder characterized by variable types of seizures, including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Onset tends to be in the first months or years of life, and the seizure type may evolve or even eventually remit. Some patients may have impaired intellectual development or autistic features. Brain imaging is usually normal (summary by {2:Marini et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.",[618482],[36387],[Generalized epilepsy with febrile seizures-plus],[18641],,,,, +GARD:18672,Active,Orphanet+OMIM,OMIM:618531,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 6,,"EKVP6 is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces. Intrafamilial variation in severity has been observed, and most affected individuals experience slowly progressive spontaneous remission after puberty ({1:Wang et al., 2019}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[618531],[316],[Progressive symmetric erythrokeratodermia],[18639],,,,, +GARD:18673,Active,Orphanet+OMIM,OMIM:618683,Subtype of disorder,[Disease subtype],"Mitochondrial complex v (atp synthase) deficiency, nuclear type 6",,"Mitochondrial complex V (ATP synthase) deficiency nuclear type 6 (MC5DN6) is an autosomal recessive progressive and degenerative disorder characterized by episodic regression of gross motor skills beginning in early childhood. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome (see {256000}) (summary by {1:Barca et al., 2018}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex V deficiency, see MC5DN1 ({604273}).",[618683],[254913],[Isolated ATP synthase deficiency],[18649],,,,, +GARD:18674,Active,Orphanet+OMIM,OMIM:619209,Subtype of disorder,[Disease subtype],Erythrokeratodermia variabilis et progressiva 7,,"Erythrokeratodermia variabilis et progressiva-7 (EKVP7) is characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present ({1:Duchatelet et al., 2019}; {2:Patel et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200}).",[619209],[316],[Progressive symmetric erythrokeratodermia],[18639],,,,, +GARD:18675,Active,Orphanet,ORPHA:67,Disorder,[Disease],Amoebiasis due to Entamoeba histolytica,,"A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.",,,,,,,,, +GARD:18676,Active,Orphanet,ORPHA:69,Group of disorders,[Category],Amyloidosis,,A vast group of diseases defined by the presence of insoluble protein deposits in tissues. Amyloidoses are classified according to clinical signs and biochemical type of amyloid protein involved.,,,,,,,,, +GARD:18677,Active,Orphanet,ORPHA:92,Group of disorders,[Clinical group],Juvenile idiopathic arthritis,"[Juvenile chronic arthritis, Juvenile rheumatoid arthritis]","A rare, heterogeneous group of rheumatologic diseases characterized by arthritis which has an onset before 16 years of age, persists for more than 6 weeks, and is of unknown origin.",,,,,,,,, +GARD:18678,Active,Orphanet,ORPHA:105,Disorder,[Morphological anomaly],Atresia of urethra,[Urethral atresia],"A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting in utero as megacystis, oligohydramnios or anhydramnios, and potter sequence.",,,,,,,,, +GARD:18679,Active,Orphanet,ORPHA:176,Group of disorders,[Clinical group],Non-rhizomelic chondrodysplasia punctata,,"Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Non-rhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.",,,,,,,,, +GARD:1868,Legacy,GARD,,,,,,,,,,,,Dincsoy-Salih-Patel syndrome,TRUE,FALSE,Retired +GARD:18680,Active,Orphanet,ORPHA:185,Disorder,[Malformation syndrome],Scimitar syndrome,"[Congenital pulmonary venolobar syndrome, Epibronchial right pulmonary vein syndrome, Halasz syndrome, Hypogenetic lung syndrome]",Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.,,,,,,,,, +GARD:18681,Active,Orphanet,ORPHA:200,Disorder,[Morphological anomaly],Isolated corpus callosum agenesis,,"A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving.",,,,,,,,, +GARD:18682,Active,Orphanet,ORPHA:224,Group of disorders,[Category],Neonatal diabetes mellitus,[NDM],"Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.",,,,,,,,, +GARD:18683,Active,Orphanet,ORPHA:236,Disorder,[Malformation syndrome],Trisomy 9p,"[Duplication 9p, Duplication of the short arm of chromosome 9, Trisomy of the short arm of chromosome 9]","Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.",,,,,,,,, +GARD:18684,Active,Orphanet,ORPHA:238,Disorder,[Morphological anomaly],Digestive duplication,,"Digestive duplication is a rare developmental defect during embryogenesis characterized by cystic, spherical or tubular structures (communicating or not with the lumen), located on a segment of the digestive tract (from the mouth cavity to anus), and constituted of a wall with a double smooth muscle layer and a digestive mucosa. The malformation may be asymptomatic or manifest with various signs including abdominal mass, abdominal pain, transit troubles or subocclusive syndrome. Mild digestive hemorrhage, perforation, pancreatitis and neonatal respiratory distress are possible complications.",,,,,,,,, +GARD:18685,Active,Orphanet,ORPHA:254,Group of disorders,[Clinical group],Spondylometaphyseal dysplasia,,Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.,,,,,,,,, +GARD:18686,Active,Orphanet,ORPHA:262,Group of disorders,[Clinical group],Duchenne and Becker muscular dystrophy,"[Severe dystrophinopathy, Duchenne and Becker type]","A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females.",,,,,,,,, +GARD:18687,Active,Orphanet,ORPHA:293,Disorder,[Disease],Congenital herpes simplex virus infection,"[Antenatal herpes simplex virus infection, Mother-to-child transmission of herpes simplex virus infection]","Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.",,,,,,,,, +GARD:18688,Active,Orphanet,ORPHA:310,Group of disorders,[Clinical group],Reflex epilepsy,,"Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy, see these terms), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).",,,,,,,,, +GARD:18689,Active,Orphanet,ORPHA:340,Disorder,[Disease],Hemorrhagic fever-renal syndrome,"[Hantavirosis, Hantavirus fever]","A rare rodent-borne, potentially severe, hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.",,,,,,,,, +GARD:18690,Active,Orphanet,ORPHA:344,Group of disorders,[Category],Arbovirus fever,,"A rare viral disease caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.",,,,,,,,, +GARD:18691,Active,Orphanet,ORPHA:370,Group of disorders,[Clinical group],Glycogen storage disease due to phosphorylase kinase deficiency,"[GSD due to phosphorylase kinase deficiency, GSD type 9, GSD type IX, Glycogen storage disease due to PhK deficiency, Glycogen storage disease type 9, Glycogen storage disease type IX, Glycogenosis due to phosphorylase kinase deficiency, Glycogenosis type 9, Glycogenosis type IX, Gycogenosis due to PhK deficiency]","Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms).",,,,,,,,, +GARD:18692,Active,Orphanet,ORPHA:390,Disorder,[Disease],Histoplasmosis,[Darling disease],"A rare mycosis characterized by granulomatous inflammation primarily of the lung after inhalation of spores of Histoplasma capsulatum. The severity of clinical disease depends on the immune status of the individual and the size of the inoculum. In immunocompetent persons, the infection usually takes a self-limiting and asymptomatic or relatively mild, flu-like course. In immunocompromised patients, it can become progressive and disseminated, involving multiple organs and presenting with fever, pneumonia, hepatosplenomegaly, skin infiltrates, and endocarditis, among others.",,,,,,,,, +GARD:18693,Active,Orphanet,ORPHA:493,Disorder,[Disease],Familial keratoacanthoma,"[Hereditary keratoacanthoma, Multiple keratoacanthoma]","A rare inherited skin cancer syndrome characterized by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces.",,,,,,,,, +GARD:18694,Active,Orphanet,ORPHA:498,Group of disorders,[Clinical group],Keratosis pilaris atrophicans,,,,,,,,,,, +GARD:18695,Active,Orphanet,ORPHA:536,Disorder,[Disease],Systemic lupus erythematosus,"[Disseminated lupus erythematosus, SLE]",,,,,,,,,, +GARD:18696,Active,Orphanet,ORPHA:537,Subtype of disorder,[Clinical subtype],Toxic epidermal necrolysis,[Lyell syndrome],An extended form of Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.,,,,,,,,, +GARD:18697,Active,Orphanet,ORPHA:541,Group of disorders,[Clinical group],Primary cutaneous CD30+ T-cell lymphoproliferative disease,[Primary cutaneous Ki-1+ T-cell lymphoproliferative disease],,,,,,,,,, +GARD:18698,Active,Orphanet,ORPHA:542,Group of disorders,[Category],Primary cutaneous lymphoma,,"Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.",,,,,,,,, +GARD:18699,Active,Orphanet,ORPHA:599,Group of disorders,[Category],Distal myopathy,[Distal muscular dystrophy],Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.,,,,,,,,, +GARD:1870,Legacy,GARD,,,,,,,,,,,,Diomedi Bernardi Placidi syndrome,TRUE,FALSE,Active +GARD:18700,Active,Orphanet,ORPHA:617,Disorder,[Morphological anomaly],Congenital primary megaureter,[Congenital primary megalo-ureter],"Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.",,,,,,,,, +GARD:18701,Active,Orphanet,ORPHA:658,Group of disorders,[Clinical group],Non-histaminic angioedema,"[Angioneurotic edema, Bradykinine-induced angioedema, Non histamine-induced angioedema]",A disorder that is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.,,,,,,,,, +GARD:18702,Active,Orphanet,ORPHA:707,Disorder,[Disease],Plague,[Yersiniosis],Plague is a severe bacterial infection caused by the Gram-negative bacterium Yersinia pestis.,,,,,,,,, +GARD:18703,Active,Orphanet,ORPHA:720,Disorder,[Disease],Pili bifurcati,,An uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.,,,,,,,,, +GARD:18704,Active,Orphanet,ORPHA:795,Group of disorders,[Category],Rare form of salmonellosis,,"Rare form of salmonellosis is a group of rare invasive salmonellosis that includes infection with Salmonella enterica typhoidal species (S. typhi and S. paratyphi) that results in enteric fever, and infection by invasive non-typhoidal species (typically strains of S. typhimurium and S. enteritidis) which have a high burden amongst immunocompromised or malnourished individuals, and results in bacteriemia, systemic febrile disease, and variable manifestations including lower respiratory tract infection and splenomegaly.",,,,,,,,, +GARD:18705,Active,Orphanet,ORPHA:801,Group of disorders,[Clinical group],Scleroderma,,"Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).",,,,,,,,, +GARD:18706,Active,Orphanet,ORPHA:831,Disorder,[Disease],Congenital cervical spinal stenosis,"[Congenital narrowing of cervical spinal canal, Congenital stenosis of the cervical spine]","Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.",,,,,,,,, +GARD:18707,Active,Orphanet,ORPHA:854,Disorder,[Clinical syndrome],Primitive portal vein thrombosis,[Non-cirrhotic portal vein thrombosis],Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.,,,,,,,,, +GARD:18708,Active,Orphanet,ORPHA:858,Disorder,[Disease],Congenital toxoplasmosis,"[Mother-to-child transmission of toxoplasmosis, Toxoplasma embryofetopathy, Toxoplasma embryopathy]","A rare fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primary infection by Toxoplasma gondii (Tg).",,,,,,,,, +GARD:18709,Active,Orphanet,ORPHA:874,Disorder,[Disease],Primary adult heart tumor,"[Adult cardiac tumor, Adult heart tumor]","A rare disorder that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma.",,,,,,,,, +GARD:18710,Active,Orphanet,ORPHA:875,Disorder,[Disease],Primary pediatric heart tumor,"[Cardiac tumor of child, Heart tumor of child]","Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.",,,,,,,,, +GARD:18711,Active,Orphanet,ORPHA:883,Disorder,[Disease],Extragonadal teratoma,,"Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.",,,,,,,,, +GARD:18712,Active,Orphanet,ORPHA:980,Disorder,[Morphological anomaly],Absence of the pulmonary artery,"[Aplasia of pulmonary artery, UAPA, Unilateral Pulmonary Artery Absence, Unilateral pulmonary artery agenesis]","A rare congenital great vessels anomaly that commonly presents with dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. It is often associated with congenital heart malformation (CHM ). In the absence of associated cardiac malformation the condition may be asymptomatic until adult age.",,,,,,,,, +GARD:18713,Active,Orphanet,ORPHA:1006,Disorder,[Disease],Alopecia antibody deficiency,[Ipp-Gelfand syndrome],"A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.",,,,,,,,, +GARD:18714,Active,Orphanet,ORPHA:1047,Group of disorders,[Category],Sideroblastic anemia,,"Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms).",,,,,,,,, +GARD:18715,Active,Orphanet,ORPHA:1084,Disorder,[Disease],Isolated lissencephaly type 1 without known genetic defects,,"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.",,,,,,,,, +GARD:18716,Active,Orphanet,ORPHA:1121,Disorder,[Malformation syndrome],Radial deficiency-tibial hypoplasia syndrome,,"Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.",,,,,,,,, +GARD:18717,Active,Orphanet,ORPHA:1138,Group of disorders,[Clinical group],Abnormal origin of the pulmonary artery,,,,,,,,,,, +GARD:18718,Active,Orphanet,ORPHA:1172,Group of disorders,[Category],Autosomal recessive cerebellar ataxia,[ARCA],"A heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.",,,,,,,,, +GARD:18719,Active,Orphanet,ORPHA:1349,Disorder,[Malformation syndrome],Mitochondrial DNA-related cardiomyopathy and hearing loss,"[Maternally-inherited cardiomyopathy and deafness, mtDNA-related cardiomyopathy and deafness, mtDNA-related cardiomyopathy and hearing loss, tRNA-LYS-related cardiomyopathy-hearing loss syndrome]","A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.",,,,,,,,, +GARD:1872,Active,Orphanet,ORPHA:227,Disorder,[Morphological anomaly],Diphallia,,"A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.",,,,,,Diphallia,TRUE,FALSE,Active +GARD:18720,Active,Orphanet,ORPHA:1398,Disorder,[Morphological anomaly],Isolated cerebellar agenesis,"[Near total absence of cerebellum, Subtotal absence of cerebellum]","A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and intellectual disability.",,,,,,,,, +GARD:18721,Active,Orphanet,ORPHA:1431,Group of disorders,[Clinical group],Paroxysmal dyskinesia,"[Paroxysmal choreoathetosis, Paroxysmal dystonic choreoathetosis]","Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms).",,,,,,,,, +GARD:18722,Active,Orphanet,ORPHA:1455,Subtype of disorder,[Clinical subtype],Autosomal dominant coarctation of aorta,,"A number of families have been described, where several members were affected with coarctation of aorta. In a systematic study of coarctation, familial aggregation was considered as result of multifactorial inheritance and recurrence risks in sibs was evaluated at about 0.5% for coarctation and 1.0% for any form of congenital heart defect. Nevertheless, in some of the described families, aortic coarctations seems to be inherited as an autosomal dominant mutation.",,,,,,,,, +GARD:18723,Active,Orphanet,ORPHA:1456,Subtype of disorder,[Clinical subtype],Atypical coarctation of aorta,"[Coarctation of the abdominal aorta, Mid-aortic dysplastic syndrome, Mid-aortic syndrome, Midaortic syndrome, Middle aortic syndrome]","A rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).",,,,,,,,, +GARD:18724,Active,Orphanet,ORPHA:1461,Disorder,[Morphological anomaly],Criss-cross heart,"[Criss-cross atrioventricular relationships, Superoinferior ventricles, Twisted atrioventricular connections]","Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.",,,,,,,,, +GARD:18725,Active,Orphanet,ORPHA:1464,Disorder,[Morphological anomaly],Univentricular heart,[Double inlet atrioventricular connection],"A severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.",,,,,,,,, +GARD:18726,Active,Orphanet,ORPHA:1505,Group of disorders,[Clinical group],Short rib-polydactyly syndrome,,A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).,,,,,,,,, +GARD:18727,Active,Orphanet,ORPHA:1506,Disorder,[Malformation syndrome],Thin ribs-tubular bones-dysmorphism syndrome,[Sharma-Kapoor-Ramji syndrome],"An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.",,,,,,,,, +GARD:18728,Active,Orphanet,ORPHA:1544,Disorder,[Disease],Benign focal seizures of adolescence,[Adolescent benign focal crisis],"A rare epilepsy typically characterized by isolated focal motor and somatosensory seizures. Less frequently other focal seizure types, with or without secondary generalization, have been described. The seizures usually happen when the patient is awake and take a benign course. The condition is transitory, interictal examinations are normal, and there is usually no family history of epilepsy.",,,,,,,,, +GARD:18729,Active,Orphanet,ORPHA:1581,Disorder,[Malformation syndrome],Non-distal monosomy 10q,"[Non-distal deletion 10q, Non-telomeric monosomy 10q]","Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.",,,,,,,,, +GARD:1873,Legacy,GARD,,,,,,,,,,,,Diphallus rachischisis imperforate anus,TRUE,FALSE,Active +GARD:18730,Active,Orphanet,ORPHA:1627,Disorder,[Malformation syndrome],Deletion 5q35,"[Del (5)(q35), Del (5)(qter), Distal 5q deletion, Monosomy 5q35, Telomeric deletion 5q]","Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.",,,,,,,,, +GARD:18731,Active,Orphanet,ORPHA:1636,Disorder,[Malformation syndrome],Distal monosomy 7q36,"[Distal deletion 7q36, Monosomy 7qter, Telomeric deletion 7q36]","Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.",,,,,,,,, +GARD:18732,Active,Orphanet,ORPHA:1642,Disorder,[Malformation syndrome],Distal monosomy 9p,"[Distal deletion 9p, Monosomy 9pter, Telomeric deletion 9p]","Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.",,,,,,,,, +GARD:18733,Active,Orphanet,ORPHA:1643,Disorder,[Malformation syndrome],Xp22.3 microdeletion syndrome,[Del(X)(p23)],"Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.",,,,,,,,, +GARD:18734,Active,Orphanet,ORPHA:1665,Disorder,[Malformation syndrome],Sporadic fetal brain disruption sequence,,"Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.",,,,,,,,, +GARD:18735,Active,Orphanet,ORPHA:1677,Disorder,[Morphological anomaly],Familial idiopathic dilatation of the right atrium,,"A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.",,,,,,,,, +GARD:18736,Active,Orphanet,ORPHA:1692,Disorder,[Malformation syndrome],Mosaic trisomy 1,"[Mosaic trisomy chromosome 1, Trisomy 1 mosaicism]","A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (campodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.",,,,,,,,, +GARD:18737,Active,Orphanet,ORPHA:1695,Disorder,[Malformation syndrome],Non-distal trisomy 10q,"[Non-distal duplication 10q, Non-telomeric trisomy 10q]","Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.",,,,,,,,, +GARD:18738,Active,Orphanet,ORPHA:1702,Disorder,[Malformation syndrome],Non-distal trisomy 13q,"[Non-distal duplication 13q, Non-telomeric trisomy 13q]","Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.",,,,,,,,, +GARD:18739,Active,Orphanet,ORPHA:1705,Disorder,[Malformation syndrome],Distal trisomy 14q,"[Distal duplication 14q, Telomeric duplication 14q, Trisomy 14qter]","Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.",,,,,,,,, +GARD:1874,Active,Orphanet,ORPHA:714,Disorder,[Disease],Hemolytic anemia due to diphosphoglycerate mutase deficiency,,,[222800],,,,,Diphosphoglycerate mutase deficiency of erythrocyte,TRUE,FALSE,Active +GARD:18740,Active,Orphanet,ORPHA:1707,Subtype of disorder,[Etiological subtype],Distal trisomy 15q,"[Distal duplication 15q, Telomeric duplication 15q, Trisomy 15qter]",,,,,,,,,, +GARD:18741,Active,Orphanet,ORPHA:1708,Disorder,[Malformation syndrome],Mosaic trisomy 16,"[Mosaic trisomy chromosome 16, Trisomy 16 mosaicism]","Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.",,,,,,,,, +GARD:18742,Active,Orphanet,ORPHA:1716,Disorder,[Malformation syndrome],Distal trisomy 18q,"[Distal duplication 18q, Telomeric duplication 18q, Trisomy 18qter]","Distal trisomy 18q is a rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.",,,,,,,,, +GARD:18743,Active,Orphanet,ORPHA:1717,Disorder,[Malformation syndrome],Distal trisomy 19q,"[Distal duplication 19q, Telomeric duplication 19q, Trisomy 19qter]","Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.",,,,,,,,, +GARD:18744,Active,Orphanet,ORPHA:1724,Disorder,[Malformation syndrome],Mosaic trisomy 20,"[Mosaic trisomy chromosome 20, Trisomy 20 mosaicism]","Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.",,,,,,,,, +GARD:18745,Active,Orphanet,ORPHA:1745,Disorder,[Malformation syndrome],Distal trisomy 6p,"[Distal duplication 6p, Telomeric duplication 6p, Trisomy 6pter]","Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.",,,,,,,,, +GARD:18746,Active,Orphanet,ORPHA:1757,Disorder,[Malformation syndrome],Fibular dimelia-diplopodia syndrome,[Leg duplication-mirror foot syndrome],"A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be assoicated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma.",,,,,,,,, +GARD:18747,Active,Orphanet,ORPHA:1772,Disorder,[Malformation syndrome],"45,X/46,XY mixed gonadal dysgenesis","[45,X/46,XY MGD, 45,X0/46,XY MGD, 45,X0/46,XY mixed gonadal dysgenesis]","45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.",,,,,,,,, +GARD:18748,Active,Orphanet,ORPHA:1851,Disorder,[Morphological anomaly],Multicystic dysplastic kidney,"[MCDK, Multicystic renal dysplasia]","A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.",,,,,,,,, +GARD:18749,Active,Orphanet,ORPHA:1866,Group of disorders,[Category],"Focal, segmental or multifocal dystonia",,"A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.",,,,,,,,, +GARD:1875,Active,Orphanet,ORPHA:1679,Disorder,[Disease],Diphtheria,,"A rare bacterial infectious disease characterized by an affliction of the upper respiratory tract mediated by the toxin of Corynebacterium diphtheriae. Symptoms include formation of an inflammatory pseudomembrane, fever, sore throat, headaches, coughing, dysphagia, dyspnea, and prominently swollen cervical lymph nodes. The disease may lead to respiratory failure and severe toxin-mediated damage of internal organs, including the heart and kidneys. A cutaneous form of diphtheria is more common in tropical climates and usually follows an indolent course.",,,,,,Diphtheria,TRUE,FALSE,Active +GARD:18750,Active,Orphanet,ORPHA:1913,Disorder,[Malformation syndrome],Fetal trimethadione syndrome,,"A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.",,,,,,,,, +GARD:18751,Active,Orphanet,ORPHA:1920,Disorder,[Malformation syndrome],Toluene embryopathy,,"A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.",,,,,,,,, +GARD:18752,Active,Orphanet,ORPHA:1929,Disorder,[Disease],Rasmussen subacute encephalitis,[Rasmussen syndrome],"A rare inflammatory and autoimmune disease with epilepsy characterized by unilateral hemispheric atrophy, associated with drug-resistant focal epilepsy, progressive hemiplegia, and cognitive decline. The disease mainly affects children and begins with a prodromal period with mild hemiparesis or infrequent seizures lasting up to several years. The acute stage is marked by frequent seizures arising from one cerebral hemisphere, followed by a residual stage with persistent severe neurological deficits and relapsing epilepsy.",,,,,,,,, +GARD:18753,Active,Orphanet,ORPHA:1931,Subtype of disorder,[Clinical subtype],Frontal encephalocele,[Anterior encephalocele],,,,,,,,,, +GARD:18754,Active,Orphanet,ORPHA:1991,Group of disorders,[Clinical group],Cleft lip with or without cleft palate,"[Tessier cleft number 1,2]",,,,,,,,,, +GARD:18755,Active,Orphanet,ORPHA:2003,Disorder,[Malformation syndrome],Cleft lip/palate-deafness-sacral lipoma syndrome,"[Cleft lip/palate-hearing loss-sacral lipoma syndrome, Lowry-Yong syndrome]","Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.",,,,,,,,, +GARD:18756,Active,Orphanet,ORPHA:2006,Disorder,[Morphological anomaly],Median cleft lip/mandibule,[Median cleft lower facial stage],Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.,,,,,,,,, +GARD:18757,Active,Orphanet,ORPHA:2034,Group of disorders,[Category],Filariasis,,"A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.",,,,,,,,, +GARD:18758,Active,Orphanet,ORPHA:2039,Disorder,[Morphological anomaly],Congenital systemic arteriovenous fistula,,"Congenital systemic arteriovenous fistula is a rare, potentially life-threatening, vascular malformation characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings.",,,,,,,,, +GARD:18759,Active,Orphanet,ORPHA:2062,Disorder,[Malformation syndrome],Progressive non-infectious anterior vertebral fusion,[Copenhagen syndrome],Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.,,,,,,,,, +GARD:1876,Active,Orphanet,ORPHA:1681,Disorder,[Morphological anomaly],Diprosopus,"[Craniofacial duplication, Diprosopia]","Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases.",,,,,,Diprosopia,TRUE,FALSE,Active +GARD:18760,Active,Orphanet,ORPHA:2104,Disorder,[Malformation syndrome],Dysmorphism-pectus carinatum-joint laxity syndrome,[Guízar Vázquez-Sánchez-Manzano syndrome],"Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.",,,,,,,,, +GARD:18761,Active,Orphanet,ORPHA:2130,Group of disorders,[Clinical group],Hemimelia,[Longitudinal meromelia],"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity.",,,,,,,,, +GARD:18762,Active,Orphanet,ORPHA:2145,Disorder,[Malformation syndrome],"Craniosynostosis, Herrmann-Opitz type",,"Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.",,,,,,,,, +GARD:18763,Active,Orphanet,ORPHA:2266,Disorder,[Disease],"Hypotrichosis-intellectual disability, Lopes type",[Lopes-Marques de Faria syndrome],"A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.",,,,,,,,, +GARD:18764,Active,Orphanet,ORPHA:2282,Disorder,[Malformation syndrome],Dysmorphism-short stature-deafness-disorder of sex development syndrome,"[Dysmorphism-short stature-hearing loss-disorder of sex development syndrome, Ieshima-Koeda-Inagaki syndrome]","Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.",,,,,,,,, +GARD:18765,Active,Orphanet,ORPHA:2305,Disorder,[Malformation syndrome],Isotretinoin syndrome,"[Isotretinoin embryopathy, Retinoic acid embryopathy, Retinoids embryopathy]","A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia.",,,,,,,,, +GARD:18766,Active,Orphanet,ORPHA:2325,Disorder,[Malformation syndrome],Epidermolysis bullosa simplex with anodontia/hypodontia,"[EBS with anodontia/hypodontia, Kallin syndrome]","A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail dystrophy. Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described.",,,,,,,,, +GARD:18767,Active,Orphanet,ORPHA:2326,Disorder,[Malformation syndrome],Kallmann syndrome-heart disease syndrome,,"Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.",,,,,,,,, +GARD:18768,Active,Orphanet,ORPHA:2338,Group of disorders,[Clinical group],Isolated punctate palmoplantar keratoderma,"[Isolated punctate PPK, Isolated punctate palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:18769,Active,Orphanet,ORPHA:2416,Group of disorders,[Clinical group],Congenital primary lymphedema without systemic or visceral involvement,,,,,,,,,,, +GARD:18770,Active,Orphanet,ORPHA:2420,Disorder,[Disease],Primary pulmonary lymphoma,,"A rare neoplastic disease defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).",,,,,,,,, +GARD:18771,Active,Orphanet,ORPHA:2443,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies,"[Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies, OXPHOS disease due to nDNA anomalies, OXPHOS disease due to nuclear DNA anomalies]","A group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis.",,,,,,,,, +GARD:18772,Active,Orphanet,ORPHA:2444,Disorder,[Malformation syndrome],Congenital pulmonary airway malformation,"[CCAM, CPAM, Congenital cystic adenomatoid malformation of the lung, Congenital cystic adenomatous malformation of the lung, Congenital cystic disease of the lung]","A rare respiratory malformation characterized by a hamartomatous mass of non-functioning lung tissue of variable extent and with variable degrees of cystic or adenomatoid change. Clinical presentation, prognosis, and presence of associated abnormalities depend on the subtype of the lesion. Based on histopathological findings, five subtypes (types 0 to 4) can be differentiated.",,,,,,,,, +GARD:18773,Active,Orphanet,ORPHA:2487,Disorder,[Malformation syndrome],Lower limb malformation-hypospadias syndrome,[Fried-Goldberg-Mundel syndrome],"Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.",,,,,,,,, +GARD:18774,Active,Orphanet,ORPHA:2519,Disorder,[Malformation syndrome],Microcephaly-seizures-intellectual disability-heart disease syndrome,,"A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.",,,,,,,,, +GARD:18775,Active,Orphanet,ORPHA:2582,Disorder,[Malformation syndrome],Myalgia-eosinophilia syndrome associated with tryptophan,,"Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.",,,,,,,,, +GARD:18776,Active,Orphanet,ORPHA:2653,Disorder,[Malformation syndrome],Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome,"[Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome, Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome, Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome]","Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.",,,,,,,,, +GARD:18777,Active,Orphanet,ORPHA:2666,Disorder,[Disease],Adult familial nephronophthisis-spastic quadriparesia syndrome,,"A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.",,,,,,,,, +GARD:18778,Active,Orphanet,ORPHA:2787,Disorder,[Malformation syndrome],Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome,[Heide syndrome],"A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981.",,,,,,,,, +GARD:18779,Active,Orphanet,ORPHA:2846,Group of disorders,[Category],Congenital pericardium anomaly,,"Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst) (see these terms).",,,,,,,,, +GARD:1878,Legacy,GARD,,,,,,,,,,,,"Chromosome 1, uniparental disomy 1q12 q21",TRUE,FALSE,Active +GARD:18780,Active,Orphanet,ORPHA:2847,Disorder,[Malformation syndrome],Pericardial and diaphragmatic defect,,Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.,,,,,,,,, +GARD:18781,Active,Orphanet,ORPHA:2907,Disorder,[Disease],Hereditary acrokeratotic poikiloderma,[Weary syndrome],"A rare hereditary poikiloderma characterized by infantile onset of vesicopustule formation on hands and feet and widespread eczematoid dermatitis (both spontaneously resolving during childhood), as well as gradually developing diffuse poikiloderma with striate and reticulate atrophy (excluding the face, scalp, and ears), and development of keratotic papules on hands, feet, elbows, and knees, beginning in early childhood. There have been no further descriptions in the literature since 1981.",,,,,,,,, +GARD:18782,Active,Orphanet,ORPHA:2973,Disorder,[Malformation syndrome],"46,XX disorder of sex development-anorectal anomalies syndrome",,"46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.",,,,,,,,, +GARD:18783,Active,Orphanet,ORPHA:2982,Group of disorders,[Category],"46,XX disorder of sex development","[46,XX DSD]",,,,,,,,,, +GARD:18784,Active,Orphanet,ORPHA:3004,Disorder,[Malformation syndrome],Mirror polydactyly-vertebral segmentation-limbs defects syndrome,,"A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.",,,,,,,,, +GARD:18785,Active,Orphanet,ORPHA:3091,Group of disorders,[Category],Congenital systemic veins anomaly,,,,,,,,,,, +GARD:18786,Active,Orphanet,ORPHA:3093,Disorder,[Morphological anomaly],Congenital aortic valve stenosis,,"A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.",,,,,,,,, +GARD:18787,Active,Orphanet,ORPHA:3151,Disorder,[Disease],Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome,,"Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis (see this term) and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.",,,,,,,,, +GARD:18788,Active,Orphanet,ORPHA:3225,Disorder,[Malformation syndrome],Hearing loss-familial salivary gland insensitivity to aldosterone syndrome,[Tungland-Bellman syndrome],Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.,,,,,,,,, +GARD:18789,Active,Orphanet,ORPHA:3240,Disorder,[Disease],Central nervous system calcification-deafness-tubular acidosis-anemia syndrome,"[Central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome, Yoshimura-Takeshita syndrome]","A rare, genetic, syndromic, neurological disorder characterized by early infantile-onset of the progressive brain and spinal cord calcification, growth retardation, psychomotor deterioration, deafness, microcytic hypochromic anemia, and variable distal renal tubular acidosis. There have been no further descriptions in the literature since 1997.",,,,,,,,, +GARD:18790,Active,Orphanet,ORPHA:3276,Group of disorders,[Category],Disorder of plasmalogens biosynthesis,,,,,,,,,,, +GARD:18791,Active,Orphanet,ORPHA:3293,Disorder,[Malformation syndrome],Telecanthus-hypertelorism-strabismus-pes cavus syndrome,,"Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.",,,,,,,,, +GARD:18792,Active,Orphanet,ORPHA:3309,Disorder,[Malformation syndrome],Tetrasomy 5p,[Isochromosome 5p],"Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).",,,,,,,,, +GARD:18793,Active,Orphanet,ORPHA:3343,Disorder,[Disease],Toxocariasis,,"A cosmopolitan zoonotic disease caused in humans by the accidental ingestion of eggs or larvae of the ascarids Toxocara canis or Toxocara cati, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major organs such as liver, lungs or central nervous system (manifesting with fever, cough, hepatomegaly, pneumonia or rarely encephalitis), or as ocular larva migrans caused by larval migration to the eye (manifesting as ocular inflammation and retinal scaring).",,,,,,,,, +GARD:18794,Active,Orphanet,ORPHA:3379,Disorder,[Malformation syndrome],Distal trisomy 17q,"[Distal duplication 17q, Telomeric duplication 17q, Trisomy 17qter]","Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.",,,,,,,,, +GARD:18795,Active,Orphanet,ORPHA:3386,Disorder,[Disease],American trypanosomiasis,[Chagas disease],"A tropical disease mainly found in latin America and transmitted by triatomine insects (mostly Triatoma infestans and Rhodnius prolixus and Panstrongylus megistus) harboring the hemoflagellate protozoan parasite Trypanosoma cruzi. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates.",,,,,,,,, +GARD:18796,Active,Orphanet,ORPHA:3388,Group of disorders,[Category],Neural tube defect,,,,,,,,,,, +GARD:18797,Active,Orphanet,ORPHA:3399,Group of disorders,[Category],Germ cell tumor,,,,,,,,,,, +GARD:18798,Active,Orphanet,ORPHA:3400,Disorder,[Morphological anomaly],Aorto-ventricular tunnel,,"A congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.",,,,,,,,, +GARD:18799,Active,Orphanet,ORPHA:26349,Disorder,[Disease],Protein S acquired deficiency,,,,,,,,,,, +GARD:188,Legacy,GARD,,,,,,,,,,,,N acetyltransferase deficiency,TRUE,FALSE,Active +GARD:18800,Active,Orphanet,ORPHA:31142,Disorder,[Disease],Oral erosive lichen,,,,,,,,,,, +GARD:18801,Active,Orphanet,ORPHA:31153,Group of disorders,[Clinical group],Hypoalphalipoproteinemia,,,,,,,,,,, +GARD:18802,Active,Orphanet,ORPHA:31154,Group of disorders,[Clinical group],Hypobetalipoproteinemia,,Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.,,,,,,,,, +GARD:18803,Active,Orphanet,ORPHA:31824,Disorder,[Particular clinical situation in a disease or syndrome],Colchicine poisoning,,"Colchicine poisoning is a potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.",,,,,,,,, +GARD:18804,Active,Orphanet,ORPHA:31825,Disorder,[Disease],Methanol poisoning,,"Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).",,,,,,,,, +GARD:18805,Active,Orphanet,ORPHA:31826,Disorder,[Disease],Ethylene glycol poisoning,,"Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.",,,,,,,,, +GARD:18806,Active,Orphanet,ORPHA:31827,Disorder,[Disease],Paraquat poisoning,,"Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.",,,,,,,,, +GARD:18807,Active,Orphanet,ORPHA:31828,Disorder,[Particular clinical situation in a disease or syndrome],Digitalis poisoning,,"A rare, potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.",,,,,,,,, +GARD:18808,Active,Orphanet,ORPHA:33408,Disorder,[Disease],Bullous lichen planus,,Bullous lichen planus is a variant of rare lichen planus (see this term) characterized by the development of vesico-bullous lesions.,,,,,,,,, +GARD:18809,Active,Orphanet,ORPHA:33475,Disorder,[Disease],Meningococcal meningitis,,"Meningococcal meningitis is an acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.",,,,,,,,, +GARD:18810,Active,Orphanet,ORPHA:34533,Group of disorders,[Category],Corneal dystrophy,,The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.,,,,,,,,, +GARD:18811,Active,Orphanet,ORPHA:35062,Disorder,[Disease],Severe disseminated cytomegalovirus infection in immunocompetent patients,[Severe disseminated CMV infection in immunocompetent patients],"A rare viral disease characterized by fulminant cytomegalovirus infection with multiple organ involvement including the brain, lung, liver, and/or heart, among others, and marked constitutional symptoms in immunocompetent patients. The condition is associated with a high case fatality rate.",,,,,,,,, +GARD:18812,Active,Orphanet,ORPHA:35063,Disorder,[Disease],Fulminant viral hepatitis,,"Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.",,,,,,,,, +GARD:18813,Active,Orphanet,ORPHA:35125,Disorder,[Disease],Epidermal nevus syndrome,[Epidermal hamartoma syndrome],"Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.",,,,,,,,, +GARD:18814,Active,Orphanet,ORPHA:35696,Group of disorders,[Category],Mitochondrial disorder due to a defect in mitochondrial protein synthesis,"[COXPD, Combined OXPHOS defect, Combined OXPHOS deficiency, Combined oxidative phosphorylation defect]",,,,,,,,,, +GARD:18815,Active,Orphanet,ORPHA:35705,Group of disorders,[Category],Neurometabolic disorder due to serine deficiency,[Serine deficiency],"Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms).",,,,,,,,, +GARD:18816,Active,Orphanet,ORPHA:35808,Group of disorders,[Category],Malignant sex cord stromal tumor of ovary,"[Malignant ovarian SCST, Malignant ovarian sex cord-stromal tumor]","Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer (see this term) arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.",,,,,,,,, +GARD:18817,Active,Orphanet,ORPHA:35889,Disorder,[Disease],Acute opioid poisoning,,"A rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.",,,,,,,,, +GARD:18818,Active,Orphanet,ORPHA:35981,Group of disorders,[Clinical group],Polymicrogyria,,"A heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents with variable combinations of neurological symptoms of varying severity such as epilepsy, developmental delay, intellectual disability, motor dysfunction (e.g. spasticity), and pseudobulbar palsy.",,,,,,,,, +GARD:18819,Active,Orphanet,ORPHA:36235,Disorder,[Disease],Staphylococcal scarlet fever,,"A rare bacterial infectious disease most prominently characterized by a red, sandpaper-like rash, a strawberry-like tongue, and a flushed face with perioral pallor. Other clinical symptoms include pharyngitis, tonsillitis, fever, headaches, and swollen lymph nodes. Potential complications are sinusitis, pneumonia, rheumatic fever, glomerulonephritis, and endocarditis, among others. The disease is caused by infection with toxin producing strains of Streptococcus pyogenes and can affect people of any age, although it is most common in children.",,,,,,,,, +GARD:18820,Active,Orphanet,ORPHA:36237,Disorder,[Disease],Bullous impetigo,,"A rare, acquired, typically benign, bacterial infectious disease caused by Staphylococcus aureus characterized by large, fragile vesicles and flaccid bullae on an erythematous base, which evolve into moistened erosions with a thin, varnish-like crust, usually localized in intertriginous areas of the trunk and extremities (armpits, groins, between the fingers or toes, beneath the breasts). Although uncommon, systemic symptoms, such as fever, diarrhea, and weakness, may be associated.",,,,,,,,, +GARD:18821,Active,Orphanet,ORPHA:36238,Disorder,[Disease],Staphylococcal necrotizing pneumonia,,"Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.",,,,,,,,, +GARD:18822,Active,Orphanet,ORPHA:36273,Disorder,[Disease],Gastric linitis plastica,"[Borrmann gastric cancer type 4, Linitis plastica of the stomach]","Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.",,,,,,,,, +GARD:18823,Active,Orphanet,ORPHA:36382,Disorder,[Disease],Familial cervical artery dissection,"[Familial CAD, Hereditary CAD, Hereditary cervical artery dissection]","Familial cervical artery dissection is a rare, genetic, neurological disorder characterized by dissection of the cervical artery in various members of a single family, presenting with variable manifestations which range from asymptomatic to the triad of ipsilateral pain in the head, neck, and face, Horner syndrome, and cerebral or retinal ischemic symptoms. Headache and cerebral ischemic features are most frequently observed.",,,,,,,,, +GARD:18824,Active,Orphanet,ORPHA:36913,Disorder,[Disease],Autoimmune hypoparathyroidism,,"A rare parathyroid disease and phosphocalcic metabolism anomaly characterized by hypocalcemia, hyperphosphatemia, hypercalciuria, and low serum parathyroid hormone levels, in the presence of autoantibodies against parathyroid tissue. Clinical signs and symptoms are of variable severity and include paresthesia, seizures, laryngospasm, tetany, cardiac dysrhythmias, calcifications of the basal ganglia, and neuropsychological manifestations such as anxiety, depression, confusion, or hallucination. The condition may occur as an isolated disease or in association with other autoimmune diseases.",,,,,,,,, +GARD:18825,Active,Orphanet,ORPHA:37202,Disorder,[Disease],Interstitial cystitis,"[Bladder pain syndrome, IC/BPS, IC/PBS, Interstitial cystitis/bladder pain syndrome, Interstitial cystitis/painful bladder syndrome, Painful bladder syndrome]","A rare non-infectious, chronic and most often progressive disease of the urinary bladder. It is characterized by varying combinations and extent of pain, urinary frequency (pollakisuria), nocturia and urgency. Interstitial cystitis (IC) has a broad intersection with Bladder Pain Syndrome (BPS) and Overactive Bladder (OAB).",,,,,,,,, +GARD:18826,Active,Orphanet,ORPHA:37559,Disorder,[Disease],Acquired kinky hair syndrome,,"A rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.",,,,,,,,, +GARD:18827,Active,Orphanet,ORPHA:40366,Disorder,[Malformation syndrome],Acitretin/etretinate embryopathy,"[Fetal acitretin/etretinate syndrome, Retinoid embryopathy]","A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.",,,,,,,,, +GARD:18828,Active,Orphanet,ORPHA:43116,Disorder,[Disease],Serotonin syndrome,"[Serotonergic syndrome, Serotonin storm, Serotonin toxicity, Serotonin toxidrome]","Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).",,,,,,,,, +GARD:18829,Active,Orphanet,ORPHA:43117,Disorder,[Particular clinical situation in a disease or syndrome],Acute tricyclic antidepressant poisoning,,"A rare, potentially lethal intoxication characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension and sudden death.",,,,,,,,, +GARD:1883,Active,Orphanet,ORPHA:345,Disorder,[Disease],Dissecting cellulitis of the scalp,,"Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.",[260910],,,,,Dissecting cellulitis of the scalp,TRUE,FALSE,Active +GARD:18830,Active,Orphanet,ORPHA:43119,Disorder,[Particular clinical situation in a disease or syndrome],Acute poisoning by drugs with membrane-stabilizing effect,,"A rare clinical situation characterized by acute, potentially life-threatening toxic effects of drugs acting on voltage-gated sodium or calcium channels, such as tricyclic antidepressants, anticonvulsants, local anesthetics and antiarrhythmics, some beta-blockers, and chloroquine. Clinical manifestations include abnormal ECG findings (intraventricular conduction block with widening of the QRS complex, T wave flattening, prolongation of the QT interval) and variable signs and symptoms depending on the drug, typically involving the cardiovascular and central nervous system, among others.",,,,,,,,, +GARD:18831,Active,Orphanet,ORPHA:45452,Disorder,[Disease],Idiopathic neonatal atrial flutter,,"Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.",,,,,,,,, +GARD:18832,Active,Orphanet,ORPHA:45453,Disorder,[Disease],Incessant infant ventricular tachycardia,,"Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.",,,,,,,,, +GARD:18833,Active,Orphanet,ORPHA:46485,Group of disorders,[Clinical group],Superficial pemphigus,,,,,,,,,,, +GARD:18834,Active,Orphanet,ORPHA:46488,Disorder,[Disease],Linear IgA dermatosis,,"A rare, acquired autoimmune bullous skin disease characterized by annular, grouped blisters on the skin and, frequently, mucous membranes with linear deposition of immunoglobulin A along the basement membrane zone (BMZ).",,,,,,,,, +GARD:18835,Active,Orphanet,ORPHA:48435,Disorder,[Disease],Postinfectious vasculitis,,"Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.",,,,,,,,, +GARD:18836,Active,Orphanet,ORPHA:48736,Subtype of disorder,[Clinical subtype],Embryonal carcinoma of the central nervous system,[Embryonal carcinoma of the CNS],,,,,,,,,, +GARD:18837,Active,Orphanet,ORPHA:48918,Disorder,[Disease],Focal myositis,"[Focal nodular myositis, Inflammatory pseudotumor of skeletal muscle]",A rare idiopathic inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.,,,,,,,,, +GARD:18838,Active,Orphanet,ORPHA:49566,Disorder,[Disease],Acquired purpura fulminans,,"A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. It may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of the disorder that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic purpura fulminans.",,,,,,,,, +GARD:18839,Active,Orphanet,ORPHA:49804,Disorder,[Disease],Lichen amyloidosis,"[Amyloid lichen, Lichen amyloidosus]","Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.",,,,,,,,, +GARD:1884,Legacy,GARD,,,,,,,,,,,,Distal arthrogryposis Moore Weaver type,TRUE,FALSE,Retired +GARD:18840,Active,Orphanet,ORPHA:50810,Disorder,[Malformation syndrome],Microlissencephaly-micromelia syndrome,[Basel-Vanagaite-Sirota syndrome],"Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.",,,,,,,,, +GARD:18841,Active,Orphanet,ORPHA:50812,Disorder,[Disease],Zellweger-like syndrome without peroxisomal anomalies,[Ahn-Lerman-Sagie syndrome],"Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.",,,,,,,,, +GARD:18842,Active,Orphanet,ORPHA:50817,Disorder,[Disease],Duane anomaly-myopathy-scoliosis syndrome,[Verloes-Deprez syndrome],"Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.",,,,,,,,, +GARD:18843,Active,Orphanet,ORPHA:51890,Disorder,[Disease],Anterior cutaneous nerve entrapment syndrome,"[ACNES, Intercostal nerve syndrome, Rectus abdominis syndrome]",A chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.,,,,,,,,, +GARD:18844,Active,Orphanet,ORPHA:52759,Group of disorders,[Category],Vasculitis,[Systemic vasculitis],"Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease; see these terms), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis; see these terms). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behçet disease, see this term) to relatively minor skin disease.",,,,,,,,, +GARD:18845,Active,Orphanet,ORPHA:52994,Disorder,[Disease],Orbital leiomyoma,,"Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.",,,,,,,,, +GARD:18846,Active,Orphanet,ORPHA:54247,Disorder,[Disease],Posterior cortical atrophy,"[Benson syndrome, Biparietal Alzheimer disease, PCA]","A rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions.",,,,,,,,, +GARD:18847,Active,Orphanet,ORPHA:54272,Disorder,[Disease],Hepatocellular adenoma,,Hepatocellular adenoma (HA) is a rare benign tumor of the liver.,,,,,,,,, +GARD:18848,Active,Orphanet,ORPHA:54368,Disorder,[Disease],Sarcocystosis,[Sarcosporidiosis],"A rare parasitic disease characterized by infection with sarcocystis species with humans as definitive (intestinal sarcocystosis) or aberrant intermediate (muscular sarcocystosis with development of sarcocysts in myocytes of skeletal, cardiac, and smooth muscle) host. Enteric infection is often mild or asymptomatic but may cause symptomatic enteritis with nausea, abdominal pain, diarrhea, and vomiting. Symptoms of muscular sarcocystosis include fever, fatigue, headache, cough, myalgia, and arthralgia, among others, with the possibility of a long-lasting, waxing and waning course.",,,,,,,,, +GARD:18849,Active,Orphanet,ORPHA:55655,Disorder,[Disease],Pneumococcal meningitis,,"A rare infectious disease of the nervous system caused by the bacterium Streptococcus pneumoniae, which is commonly part of the bacterial flora colonizing the nasopharyngeal mucosa. The disease is clinically characterized by typical symptoms of acute leptomeningitis, like fever, headache, neck stiffness, vomiting, and clouding of consciousness. It is frequently fatal and, in surviving patients, often accompanied by long-term sequelae, especially focal neurological deficits, hearing loss, cognitive impairment, and epilepsy.",,,,,,,,, +GARD:18850,Active,Orphanet,ORPHA:56044,Group of disorders,[Clinical group],Carcinoma of gallbladder and extrahepatic biliary tract,[Carcinoma of gallbladder and EBT],"Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.",,,,,,,,, +GARD:18851,Active,Orphanet,ORPHA:56970,Group of disorders,[Category],Human prion disease,"[TSE, Transmissible spongiform encephalopathy]","A group of rare neurodegenerative diseases characterized by the accumulation of prions, abnormal variants of the cellular prion protein, primarily in brain tissue of affected individuals, as well as massive, rapid neuronal death, and an invariably fatal course. Human prion diseases most often occur sporadically but may also be of genetic origin or infectiously acquired. Irrespective of etiology, they are transmissible to other individuals.",,,,,,,,, +GARD:18852,Active,Orphanet,ORPHA:57777,Disorder,[Disease],Cirrhotic cardiomyopathy,,"Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.",,,,,,,,, +GARD:18853,Active,Orphanet,ORPHA:57782,Disorder,[Malformation syndrome],Mazabraud syndrome,[Myxoma with fibrous dysplasia],"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.",,,,,,,,, +GARD:18854,Active,Orphanet,ORPHA:58040,Disorder,[Disease],Osteoblastoma,,"A rare, neoplastic disease characterized by a typically benign, locally aggressive, non self-limiting, osteoblastic bone tumor, usually located on the spine, proximal humerus and hip (although any bone may be involved), generally manifesting with slowly progressive, dull aching pain which is difficult to localize and is not relieved by nonsteroidal anti-inflammatory drugs or aspirin. Neurologic symptoms, such as cranial nerve palsies, myelopathy, neuralgia, radiculopathy, paraparesis or paraplegia, may be associated if the spine is involved. Imaging reveals a lytic (or mixed lytic and blastic) lesion with a radiolucent nidus (> 2 cm) associated with reactive sclerotic bone.",,,,,,,,, +GARD:18855,Active,Orphanet,ORPHA:59315,Disorder,[Malformation syndrome],Rhombencephalosynapsis,,"A rare cerebellar malformation characterized by congenital complete or partial fusion of the cerebellar hemispheres, dentate nuclei, and middle cerebellar peduncles, and complete or partial absence of the vermis. It may occur as an isolated anomaly or together with other malformations of the brain and is associated with variable clinical manifestations including developmental delay, ataxia, dysarthria, oculomotor abnormalities, seizures, and involuntary head movements, among others.",,,,,,,,, +GARD:18856,Active,Orphanet,ORPHA:60014,Disorder,[Disease],Argyria,[Silver staining],"A rare dermatosis, which can be either localized or generalized, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).",,,,,,,,, +GARD:18857,Active,Orphanet,ORPHA:63443,Group of disorders,[Category],Rare epithelial tumor of stomach,[Rare gastric epithelial tumor],,,,,,,,,, +GARD:18858,Active,Orphanet,ORPHA:63455,Disorder,[Disease],Paraneoplastic pemphigus,,"A rare form of autoimmune bullous skin disease characterized by polyformative skin lesions, typically beginning on the oral mucus membranes, and generally associated with lymphoma or chronic lymphoid leukemia.",,,,,,,,, +GARD:18859,Active,Orphanet,ORPHA:64542,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Kennedy-Teebi type",[Kennedy-Teebi syndrome],"A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.",,,,,,,,, +GARD:1886,Active,Orphanet,ORPHA:98912,Disorder,[Disease],"Late-onset distal myopathy, Markesbery-Griggs type",[ZASP-related myofibrillar myopathy],"A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.",[609452],,,,,"Late-onset distal myopathy, Markesbery-Griggs type",TRUE,FALSE,Active +GARD:18860,Active,Orphanet,ORPHA:64545,Disorder,[Disease],Benign idiopathic neonatal seizures,"[BINS, Benign nonfamilial neonatal seizures]","A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.",,,,,,,,, +GARD:18861,Active,Orphanet,ORPHA:64692,Disorder,[Disease],Oroya fever,"[Bartonellosis due to Bartonella bacilliformis infection, Carrion disease]",,,,,,,,,, +GARD:18862,Active,Orphanet,ORPHA:64694,Disorder,[Disease],Trench fever,[Bartonellosis due to Bartonella quintana infection],"A rare bacterial infectious disease caused by the louse-borne bacterium Bartonella quintana and characterized by a variable clinical picture with acute or insidious onset of a (potentially relapsing) febrile illness, headache, leg pain (most typically the shinbone), endocarditis, and thrombocytopenia. There may also be only non-specific symptoms that mimic other infections. The disease nowadays most commonly affects socially disadvantaged persons in urban areas.",,,,,,,,, +GARD:18863,Active,Orphanet,ORPHA:64722,Disorder,[Disease],Granulomatous mastitis,[Idiopathic granulomatous mastitis],"A rare gynecologic or obstetric disease characterized by a painful, palpable breast mass with relative sparing of the subareolar regions, often associated with inflammation of the overlying skin and accompanied by axillary lymphadenopathy. It usually occurs in young parous women with a history of breast-feeding. The diagnosis of idiopathic granulomatous mastitis requires that other granulomatous lesions in the breast be excluded.",,,,,,,,, +GARD:18864,Active,Orphanet,ORPHA:64741,Disorder,[Disease],Pulmonary blastoma,[Pneumoblastoma],"A biphasic primary lung neoplasm, belonging to the group of sarcomatoid lung carcinomas (SLCs). The tumor contains both an epithelial well-differentiated component, showing tubular architecture resembling the normal fetal lung, and a mesenchymal undifferentiated stroma with a so-called ''blastema-like'' configuration that resembles an embryonic lung.",,,,,,,,, +GARD:18865,Active,Orphanet,ORPHA:64743,Subtype of disorder,[Histopathological subtype],Hepatoportal sclerosis,[Obliterative portal venopathy],"A form of portosinusoidal vascular disease characterized histologically by varying degrees of phlebosclerosis, primarily involving the small and medium branches of the portal vein with heterogeneous distribution, in the absence of cirrhosis.",,,,,,,,, +GARD:18866,Active,Orphanet,ORPHA:64744,Subtype of disorder,[Clinical subtype],IgG4-related thyroid disease,"[Riedel disease, Riedel thyroiditis]","A fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficul¼ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.",,,,,,,,, +GARD:18867,Active,Orphanet,ORPHA:65681,Disorder,[Morphological anomaly],Vaginal atresia,,"A rare vaginal malformation characterized by congenital uterovaginal outflow tract obstruction due to failure of the urogenital sinus to form the caudal aspect of the vagina, which is then replaced by fibrous tissue. The malformation may occur as an isolated developmental defect or in association with other anomalies, such as cervical agenesis, imperforate hymen, and bicornuate bicervical uterus. Presenting signs and symptoms include primary amenorrhea, cyclic pelvic pain, abdominal pain, dyspareunia, pelvic mass, menstrual disorder, and periodic fever.",,,,,,,,, +GARD:18868,Active,Orphanet,ORPHA:66518,Disorder,[Disease],Short fifth metacarpals-insulin resistance syndrome,,"A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome.",,,,,,,,, +GARD:18869,Active,Orphanet,ORPHA:66633,Disorder,[Disease],Sensorineural hearing loss-early graying-essential tremor syndrome,[Sensorineural deafness-early graying-essential tremor syndrome],"A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.",,,,,,,,, +GARD:1887,Active,Orphanet,ORPHA:600,Disorder,[Disease],Vocal cord and pharyngeal distal myopathy,"[Distal myopathy with vocal cord weakness, MATR3-related distal myopathy, VCPDM]",Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.,[606070],,,,,Distal myopathy with vocal cord weakness,TRUE,FALSE,Active +GARD:18870,Active,Orphanet,ORPHA:66661,Disorder,[Disease],Mast cell sarcoma,,"Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase.",,,,,,,,, +GARD:18871,Active,Orphanet,ORPHA:66662,Disorder,[Disease],Extracutaneous mastocytoma,,"A rare neoplastic disease characterized by a localized, unifocal, low-grade tumor composed of mature mast cells, without evidence of systemic mastocytosis or skin lesions. The tumor most commonly arises in the lung and shows a non-destructive growth pattern.",,,,,,,,, +GARD:18872,Active,Orphanet,ORPHA:67039,Disorder,[Disease],Segmental odontomaxillary dysplasia,,"Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.",,,,,,,,, +GARD:18873,Active,Orphanet,ORPHA:68334,Group of disorders,[Category],Rare hemorrhagic disorder due to a constitutional coagulation factors defect,"[Rare bleeding disorder due to a constitutional coagulation factors defect, Rare coagulopathy due to a constitutional coagulation factors defect]",,,,,,,,,, +GARD:18874,Active,Orphanet,ORPHA:68335,Group of disorders,[Category],Rare chromosomal anomaly,,,,,,,,,,, +GARD:18875,Active,Orphanet,ORPHA:68336,Group of disorders,[Category],Rare genetic tumor,,,,,,,,,,, +GARD:18876,Active,Orphanet,ORPHA:68341,Group of disorders,[Category],Multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:18877,Active,Orphanet,ORPHA:68346,Group of disorders,[Category],Rare genetic skin disease,[Rare genodermatosis],,,,,,,,,, +GARD:18878,Active,Orphanet,ORPHA:68347,Group of disorders,[Category],Tumor of hematopoietic and lymphoid tissues,,,,,,,,,,, +GARD:18879,Active,Orphanet,ORPHA:68354,Group of disorders,[Category],Rare sleep disorder,,,,,,,,,,, +GARD:18880,Active,Orphanet,ORPHA:68361,Group of disorders,[Category],Rare deafness,[Rare hearing loss],,,,,,,,,, +GARD:18881,Active,Orphanet,ORPHA:68362,Group of disorders,[Category],Rare vascular disease,,,,,,,,,,, +GARD:18882,Active,Orphanet,ORPHA:68363,Group of disorders,[Category],Rare dystonia,[Rare dystonic disorder],,,,,,,,,, +GARD:18883,Active,Orphanet,ORPHA:68364,Group of disorders,[Category],Hemoglobinopathy,,,,,,,,,,, +GARD:18884,Active,Orphanet,ORPHA:68366,Group of disorders,[Category],Lysosomal disease,,,,,,,,,,, +GARD:18885,Active,Orphanet,ORPHA:68373,Group of disorders,[Category],Peroxisomal disease,,,,,,,,,,, +GARD:18886,Active,Orphanet,ORPHA:68378,Group of disorders,[Category],Congenital limb malformation,,,,,,,,,,, +GARD:18887,Active,Orphanet,ORPHA:68380,Group of disorders,[Category],Mitochondrial disease,,,,,,,,,,, +GARD:18888,Active,Orphanet,ORPHA:68381,Group of disorders,[Category],Neuromuscular disease,,,,,,,,,,, +GARD:18889,Active,Orphanet,ORPHA:68383,Group of disorders,[Category],Rare constitutional aplastic anemia,,,,,,,,,,, +GARD:1889,Legacy,GARD,,,,,,,,,,,,"Distal primary acidosis, familial",TRUE,FALSE,Active +GARD:18890,Active,Orphanet,ORPHA:68385,Group of disorders,[Category],Neurometabolic disease,,,,,,,,,,, +GARD:18891,Active,Orphanet,ORPHA:68402,Group of disorders,[Category],Rare parkinsonian disorder,[Rare hypokinetic movement disorder],,,,,,,,,, +GARD:18892,Active,Orphanet,ORPHA:68411,Group of disorders,[Category],Rare bone tumor,,,,,,,,,,, +GARD:18893,Active,Orphanet,ORPHA:68415,Group of disorders,[Category],Rare parathyroid disease and phosphocalcic metabolism anomaly,,,,,,,,,,, +GARD:18894,Active,Orphanet,ORPHA:68419,Group of disorders,[Category],Vascular anomaly or angioma,,,,,,,,,,, +GARD:18895,Active,Orphanet,ORPHA:69028,Group of disorders,[Category],Dysostosis with brachydactyly,,"Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.",,,,,,,,, +GARD:18896,Active,Orphanet,ORPHA:69063,Disorder,[Disease],Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,"[Alloimmune neonatal renal disease, FMAIG, Fetomaternal alloimmunization with antenatal glomerulopathies, Neonatal glomerulopathy due to neprilysin alloimmunization, Neonatal membranous glomerulopathy with maternal NEP deficiency, Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency]","A rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunization characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life.",,,,,,,,, +GARD:18897,Active,Orphanet,ORPHA:69736,Disorder,[Disease],Bilateral acute depigmentation of the iris,[BADI],"Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.",,,,,,,,, +GARD:18898,Active,Orphanet,ORPHA:69744,Disorder,[Disease],Circumscribed palmoplantar hypokeratosis,,"Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin.",,,,,,,,, +GARD:18899,Active,Orphanet,ORPHA:69745,Disorder,[Disease],Warty dyskeratoma,[Follicular dyskeratoma],"A rare, benign, epidermal disease characterized by a solitary, asymptomatic, verrucous, skin-coloured to red-brown papule or nodule, which contains a central pore and keratotic plug, occuring most frequently on the scalp, face and neck (rarely, in the mouth, under the nail plate or on the mons pubis). Occasionally, lesions may be multiple and/or pruritic. Histologically, a well-circumscribed, cup-shaped, keratin-filled invagination, with prominent acantholytic dyskeratosis, suprabasilar clefts and villi projecting into the clefts, is observed.",,,,,,,,, +GARD:189,Legacy,GARD,,,,,,,,,,,,Elliott Ludman Teebi syndrome,TRUE,FALSE,Active +GARD:1890,Legacy,GARD,,,,,,,,,,,,Distichiasis heart congenital anomalies,TRUE,FALSE,Active +GARD:18900,Active,Orphanet,ORPHA:70475,Disorder,[Disease],Radiation proctitis,,"Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.",,,,,,,,, +GARD:18901,Active,Orphanet,ORPHA:99977,Disorder,[Disease],Squamous cell carcinoma of the esophagus,"[ESCC, Esophageal epidermoid carcinoma, Esophageal squamous cell carcinoma]","Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.",[133239],,,,,,,, +GARD:18902,Active,Orphanet,ORPHA:70578,Disorder,[Disease],Adult acute respiratory distress syndrome,[Adult ARDS],"A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.",,,,,,,,, +GARD:18903,Active,Orphanet,ORPHA:70596,Disorder,[Disease],Congenital Epstein-Barr virus infection,"[Antenatal EBV infection, Antenatal Epstein-Barr virus infection, Congenital EBV infection, Mother-to-child transmission of Epstein-Barr virus infection]","A rare infectious disease that causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.",,,,,,,,, +GARD:18904,Active,Orphanet,ORPHA:71198,Group of disorders,[Category],Rare pulmonary hypertension,,,,,,,,,,, +GARD:18905,Active,Orphanet,ORPHA:71202,Group of disorders,[Category],Rare hemorrhagic disorder due to a constitutional platelet anomaly,"[Rare bleeding disorder due to a constitutional platelet anomaly, Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia, Rare coagulopathy due to a constitutional platelet anomaly, Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia, Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia]",,,,,,,,,, +GARD:18906,Active,Orphanet,ORPHA:71203,Group of disorders,[Clinical group],Autoimmune thrombocytopenia,,,,,,,,,,, +GARD:18907,Active,Orphanet,ORPHA:71209,Group of disorders,[Category],Rare soft tissue tumor,[Rare mesenchymal tumor],,,,,,,,,, +GARD:18908,Active,Orphanet,ORPHA:71213,Disorder,[Disease],Retinal capillary malformation,,"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.",,,,,,,,, +GARD:18909,Active,Orphanet,ORPHA:71267,Disorder,[Malformation syndrome],Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,[Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome],"A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.",,,,,,,,, +GARD:1891,Active,Orphanet,ORPHA:1685,Disorder,[Disease],Distomatosis,"[Distomiasis, Fluke infection]","A group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.",,,,,,Distomatosis,TRUE,FALSE,Active +GARD:18910,Active,Orphanet,ORPHA:71276,Disorder,[Disease],Silent sinus syndrome,[Imploding antrum syndrome],Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.,,,,,,,,, +GARD:18911,Active,Orphanet,ORPHA:71281,Group of disorders,[Category],Rare central nervous system and retinal vascular disease,,,,,,,,,,, +GARD:18912,Active,Orphanet,ORPHA:71505,Disorder,[Disease],Cancer-associated retinopathy,"[CAR syndrome, Paraneoplastic retinopathy]",Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.,,,,,,,,, +GARD:18913,Active,Orphanet,ORPHA:71518,Disorder,[Disease],Benign paroxysmal torticollis of infancy,,"A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollic posturing of the head between infancy and early-childhood.",,,,,,,,, +GARD:18914,Active,Orphanet,ORPHA:71519,Disorder,[Clinical syndrome],Psychogenic movement disorders,[Psychogenic dystonia],"A rare neurologic disease characterized by the manifestation of an underlying psychiatric illness or malingering, and that cannot be attributed to any known structural or neurochemical diseases. Most cases fall in the psychiatric diagnostic category of conversion disorder, also referred to as functional neurological symptom disorder.",,,,,,,,, +GARD:18915,Active,Orphanet,ORPHA:71859,Group of disorders,[Category],Rare genetic neurological disorder,,,,,,,,,,, +GARD:18916,Active,Orphanet,ORPHA:71862,Group of disorders,[Category],Inherited retinal disorder,[Retinal dystrophy],,,,,,,,,, +GARD:18917,Active,Orphanet,ORPHA:71864,Group of disorders,[Category],Muscular channelopathy,,,,,,,,,,, +GARD:18918,Active,Orphanet,ORPHA:73014,Group of disorders,[Category],Intractable diarrhea of infancy,[IDI],"Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different etiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.",,,,,,,,, +GARD:18919,Active,Orphanet,ORPHA:73223,Disorder,[Malformation syndrome],Global developmental delay-osteopenia-ectodermal defect syndrome,,"A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described.",,,,,,,,, +GARD:18920,Active,Orphanet,ORPHA:73224,Disorder,[Disease],Kidney tubulopathy-dilated cardiomyopathy syndrome,,"A rare renal disease characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.",,,,,,,,, +GARD:18921,Active,Orphanet,ORPHA:73230,Disorder,[Disease],Ossification anomalies-psychomotor developmental delay syndrome,,"A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia.",,,,,,,,, +GARD:18922,Active,Orphanet,ORPHA:73245,Disorder,[Malformation syndrome],Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome,,"A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.",,,,,,,,, +GARD:18923,Active,Orphanet,ORPHA:73246,Disorder,[Malformation syndrome],Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported.",,,,,,,,, +GARD:18924,Active,Orphanet,ORPHA:75110,Group of disorders,[Category],Myiasis,,,,,,,,,,, +GARD:18925,Active,Orphanet,ORPHA:75378,Disorder,[Disease],Oligocone trichromacy,[Oligocone syndrome],"A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal.",,,,,,,,, +GARD:18926,Active,Orphanet,ORPHA:75389,Disorder,[Malformation syndrome],Brain malformation-congenital heart disease-postaxial polydactyly syndrome,[Goossens-Devriendt syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuropituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported.",,,,,,,,, +GARD:18927,Active,Orphanet,ORPHA:75508,Disorder,[Malformation syndrome],Angioosteohypotrophic syndrome,"[Phlebectatic osteohypoplastic angiodysplasia, Servelle-Martorell syndrome]","A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.",,,,,,,,, +GARD:18928,Active,Orphanet,ORPHA:75565,Disorder,[Disease],Tropical endomyocardial fibrosis,"[Davies disease, TEMF]","Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.",,,,,,,,, +GARD:18929,Active,Orphanet,ORPHA:75566,Disorder,[Disease],Loeffler endocarditis,[Eosinophilic endocarditis],"A rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.",,,,,,,,, +GARD:18930,Active,Orphanet,ORPHA:75567,Disorder,[Clinical syndrome],Primary progressive freezing gait,[PPFG],"Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.",,,,,,,,, +GARD:18931,Active,Orphanet,ORPHA:75857,Disorder,[Malformation syndrome],6q terminal deletion syndrome,,"A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association.",,,,,,,,, +GARD:18932,Active,Orphanet,ORPHA:77240,Group of disorders,[Category],Primary lymphedema,,"Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphoangiogenesis). It can be hereditary or not and be congenital or late onset.",,,,,,,,, +GARD:18933,Active,Orphanet,ORPHA:77300,Disorder,[Malformation syndrome],Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities.",,,,,,,,, +GARD:18934,Active,Orphanet,ORPHA:77301,Disorder,[Malformation syndrome],Monosomy 9q22.3,[Microdeletion 9q22.3],"Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.",,,,,,,,, +GARD:18935,Active,Orphanet,ORPHA:77828,Group of disorders,[Category],Genetic obesity,,,,,,,,,,, +GARD:18936,Active,Orphanet,ORPHA:77830,Group of disorders,[Category],Rare genetic odontologic disease,,,,,,,,,,, +GARD:18937,Active,Orphanet,ORPHA:79062,Group of disorders,[Category],Disorder of amino acid and other organic acid metabolism,,,,,,,,,,, +GARD:18938,Active,Orphanet,ORPHA:79097,Disorder,[Disease],Folinic acid-responsive seizures,,"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.",,,,,,,,, +GARD:18939,Active,Orphanet,ORPHA:79098,Disorder,[Disease],Sympathetic ophthalmia,[Sympathetic uveitis],Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.,,,,,,,,, +GARD:1894,Active,Orphanet,ORPHA:3439,Disorder,[Malformation syndrome],Von Voss-Cherstvoy syndrome,"[DK phocomelia syndrome, Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome]","Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.",[223340],,,,,DK phocomelia syndrome,TRUE,FALSE,Active +GARD:18940,Active,Orphanet,ORPHA:79099,Disorder,[Disease],Interstitial granulomatous dermatitis with arthritis,"[Ackerman dermatitis syndrome, Ackerman syndrome, IGDA]","Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.",,,,,,,,, +GARD:18941,Active,Orphanet,ORPHA:79105,Disorder,[Disease],Myxofibrosarcoma,"[Fibromyxosarcoma, Myxoid malignant fibrous histiocytoma]","A rare soft tissue sarcoma characterized by a malignant, fibroblastic lesion with variably myxoid stroma, pleomorphism, and a distinctively curvilinear vascular pattern. The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. Depth of the lesion and tumor grade do not influence the high rate of local recurrence, while the percentage of metastasis and tumor-associated mortality are much higher in deep-seated and high-grade neoplasms.",,,,,,,,, +GARD:18942,Active,Orphanet,ORPHA:79127,Disorder,[Disease],Respiratory bronchiolitis-interstitial lung disease syndrome,[RB-ILD],"Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.",,,,,,,,, +GARD:18943,Active,Orphanet,ORPHA:79129,Disorder,[Malformation syndrome],Trichodysplasia-amelogenesis imperfecta syndrome,,A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993.,,,,,,,,, +GARD:18944,Active,Orphanet,ORPHA:79138,Disorder,[Disease],Bickerstaff brainstem encephalitis,,"Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).",,,,,,,,, +GARD:18945,Active,Orphanet,ORPHA:79158,Group of disorders,[Category],Cerebral organic aciduria,,,,,,,,,,, +GARD:18946,Active,Orphanet,ORPHA:79161,Group of disorders,[Category],Disorder of carbohydrate metabolism,,,,,,,,,,, +GARD:18947,Active,Orphanet,ORPHA:79163,Group of disorders,[Category],Classic organic aciduria,,,,,,,,,,, +GARD:18948,Active,Orphanet,ORPHA:79166,Group of disorders,[Category],Disorder of amino acid absorption and transport,,,,,,,,,,, +GARD:18949,Active,Orphanet,ORPHA:79168,Group of disorders,[Category],Disorder of bile acid synthesis,,"A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.",,,,,,,,, +GARD:1895,Legacy,GARD,,,,,,,,,,,,Dobrow syndrome,TRUE,FALSE,Active +GARD:18950,Active,Orphanet,ORPHA:79169,Group of disorders,[Category],Disorder of neurotransmitter metabolism and transport,,,,,,,,,,, +GARD:18951,Active,Orphanet,ORPHA:79171,Group of disorders,[Category],Disorder of cobalamin metabolism and transport,,,,,,,,,,, +GARD:18952,Active,Orphanet,ORPHA:79172,Group of disorders,[Clinical group],Creatine deficiency syndrome,"[CCDS, CDS, Cerebral creatine deficiency syndrome]","Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.",,,,,,,,, +GARD:18953,Active,Orphanet,ORPHA:79173,Group of disorders,[Category],Disorder of methionine cycle and sulfur amino acid metabolism,[Cytosolic methyl group transfer or sulfur amino acid metabolism disorder],,,,,,,,,, +GARD:18954,Active,Orphanet,ORPHA:79174,Group of disorders,[Category],Disorder of fatty acid oxidation and ketone body metabolism,,,,,,,,,,, +GARD:18955,Active,Orphanet,ORPHA:79175,Group of disorders,[Category],Disorder of gamma-aminobutyric acid metabolism,[Disorder of GABA metabolism],,,,,,,,,, +GARD:18956,Active,Orphanet,ORPHA:79177,Group of disorders,[Category],Gluconeogenesis disorder,,,,,,,,,,, +GARD:18957,Active,Orphanet,ORPHA:79178,Group of disorders,[Category],Glucose transport disorder,,,,,,,,,,, +GARD:18958,Active,Orphanet,ORPHA:79179,Group of disorders,[Category],Disorder of glycerol metabolism,,,,,,,,,,, +GARD:18959,Active,Orphanet,ORPHA:79181,Group of disorders,[Category],Disorder of histidine metabolism,,,,,,,,,,, +GARD:1896,Active,Orphanet,ORPHA:2014,Group of disorders,[Clinical group],Cleft palate,,A fissure type embryopathy that affects the soft and hard palate to varying degrees.,[119540],,,,,Dominant cleft palate,TRUE,FALSE,Active +GARD:18960,Active,Orphanet,ORPHA:79183,Group of disorders,[Category],Disorder of ketolysis,,,,,,,,,,, +GARD:18961,Active,Orphanet,ORPHA:79185,Group of disorders,[Category],Disorder of ornithine or proline metabolism,,,,,,,,,,, +GARD:18962,Active,Orphanet,ORPHA:79186,Group of disorders,[Category],Disorder of pentose phosphate metabolism,,,,,,,,,,, +GARD:18963,Active,Orphanet,ORPHA:79187,Group of disorders,[Category],Disorder of peptide metabolism,,,,,,,,,,, +GARD:18964,Active,Orphanet,ORPHA:79190,Group of disorders,[Category],Disorder of phenylalanin or tyrosine metabolism,,,,,,,,,,, +GARD:18965,Active,Orphanet,ORPHA:79191,Group of disorders,[Category],Disorder of purine metabolism,,,,,,,,,,, +GARD:18966,Active,Orphanet,ORPHA:79192,Group of disorders,[Category],Disorder of pyridoxine metabolism,,,,,,,,,,, +GARD:18967,Active,Orphanet,ORPHA:79193,Group of disorders,[Category],Disorder of pyrimidine metabolism,,,,,,,,,,, +GARD:18968,Active,Orphanet,ORPHA:79194,Group of disorders,[Category],Disorder of serine or glycine metabolism,,,,,,,,,,, +GARD:18969,Active,Orphanet,ORPHA:79195,Group of disorders,[Category],Sterol biosynthesis disorder,,,,,,,,,,, +GARD:1897,Legacy,GARD,,,,,,,,,,,,Dominant ichthyosis vulgaris,TRUE,FALSE,Retired +GARD:18970,Active,Orphanet,ORPHA:79196,Group of disorders,[Category],Disorder of the gamma-glutamyl cycle,,,,,,,,,,, +GARD:18971,Active,Orphanet,ORPHA:79197,Group of disorders,[Category],Disorder of branched-chain amino acid metabolism,,,,,,,,,,, +GARD:18972,Active,Orphanet,ORPHA:79200,Group of disorders,[Category],Disorder of energy metabolism,,,,,,,,,,, +GARD:18973,Active,Orphanet,ORPHA:79201,Group of disorders,[Category],Glycogen storage disease,"[GSD, Glycogenosis]",,,,,,,,,, +GARD:18974,Active,Orphanet,ORPHA:79207,Group of disorders,[Category],Disorder of lysosomal amino acid transport,,,,,,,,,,, +GARD:18975,Active,Orphanet,ORPHA:79212,Group of disorders,[Category],Mucolipidosis,,,,,,,,,,, +GARD:18976,Active,Orphanet,ORPHA:79214,Group of disorders,[Category],Disorder of biogenic amine metabolism and transport,,,,,,,,,,, +GARD:18977,Active,Orphanet,ORPHA:79215,Group of disorders,[Category],Oligosaccharidosis,,,,,,,,,,, +GARD:18978,Active,Orphanet,ORPHA:79217,Group of disorders,[Category],Other metabolic disease with skin involvement,,,,,,,,,,, +GARD:18979,Active,Orphanet,ORPHA:79219,Group of disorders,[Category],Metabolic disease involving other neurotransmitter deficiency,,,,,,,,,,, +GARD:1898,Active,Orphanet,ORPHA:98995,Subtype of disorder,[Clinical subtype],Early-onset zonular cataract,,,"[613763, 609376, 605728, 116400, 610019, 607304]",,,,,Early-onset zonular cataract,TRUE,FALSE,Active +GARD:18980,Active,Orphanet,ORPHA:79224,Group of disorders,[Category],Disorder of purine or pyrimidine metabolism,,,,,,,,,,, +GARD:18981,Active,Orphanet,ORPHA:79226,Group of disorders,[Category],Sterol metabolism disorder,,,,,,,,,,, +GARD:18982,Active,Orphanet,ORPHA:79254,Subtype of disorder,[Clinical subtype],Classic phenylketonuria,[Classic PKU],"A severe form of phenylketonuria (PKU) due to phenylalanine hydroxylase deficiency, an inborn error of amino acid metabolism, characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.",,,,,,,,, +GARD:18983,Active,Orphanet,ORPHA:79298,Group of disorders,[Clinical group],Diazoxide-resistant focal hyperinsulinism,"[Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form]","A form of congenital diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide.",,,,,,,,, +GARD:18984,Active,Orphanet,ORPHA:79353,Group of disorders,[Category],Epidermal disease,,,,,,,,,,, +GARD:18985,Active,Orphanet,ORPHA:79354,Group of disorders,[Category],Ichthyosis,,,,,,,,,,, +GARD:18986,Active,Orphanet,ORPHA:79355,Group of disorders,[Category],Erythrokeratoderma,,,,,,,,,,, +GARD:18987,Active,Orphanet,ORPHA:79356,Group of disorders,[Category],Acrokeratoderma,,,,,,,,,,, +GARD:18988,Active,Orphanet,ORPHA:79357,Group of disorders,[Category],Hereditary palmoplantar keratoderma,"[Hereditary PPK, Hereditary keratosis palmoplantaris, Hereditary palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:18989,Active,Orphanet,ORPHA:79358,Group of disorders,[Category],Porokeratosis,,,,,,,,,,, +GARD:1899,Active,Orphanet,ORPHA:2143,Disorder,[Malformation syndrome],Donnai-Barrow syndrome,"[DBS/FOAR syndrome, Diaphragmatic hernia-exomphalos-hypertelorism syndrome, Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome, Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome, FOAR syndrome, Facio-oculo-acoustico-renal syndrome, Holmes-Schepens syndrome, Syndrome of ocular and facial anomalies, telecanthus and deafness, Syndrome of ocular and facial anomalies, telecanthus and hearing loss]","A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.",[222448],,,,,Donnai-Barrow syndrome,TRUE,FALSE,Active +GARD:18990,Active,Orphanet,ORPHA:79359,Group of disorders,[Category],Other epidermal disorder,,,,,,,,,,, +GARD:18991,Active,Orphanet,ORPHA:79360,Group of disorders,[Category],Other genetic epidermal disease,,,,,,,,,,, +GARD:18992,Active,Orphanet,ORPHA:79361,Group of disorders,[Category],Inherited epidermolysis bullosa,"[Epidermolysis bullosa hereditaria, Hereditary epidermolysis bullosa]",Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.,,,,,,,,, +GARD:18993,Active,Orphanet,ORPHA:79362,Group of disorders,[Category],Epidermal appendage anomaly,,,,,,,,,,, +GARD:18994,Active,Orphanet,ORPHA:79363,Group of disorders,[Category],Hair anomaly,,,,,,,,,,, +GARD:18995,Active,Orphanet,ORPHA:79364,Group of disorders,[Category],Alopecia,,,,,,,,,,, +GARD:18996,Active,Orphanet,ORPHA:79365,Group of disorders,[Category],Rare disorder with hypertrichosis,,,,,,,,,,, +GARD:18997,Active,Orphanet,ORPHA:79366,Group of disorders,[Category],Isolated hair shaft abnormality,,,,,,,,,,, +GARD:18998,Active,Orphanet,ORPHA:79367,Group of disorders,[Category],Syndromic hair shaft abnormality,,,,,,,,,,, +GARD:18999,Active,Orphanet,ORPHA:79368,Group of disorders,[Category],Nail anomaly,,,,,,,,,,, +GARD:19,Active,Orphanet,ORPHA:1675,Disorder,[Disease],Dihydropyrimidine dehydrogenase deficiency,[Familial pyrimidinemia],"A rare disorder of pyrimidine metabolism characterized by a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.",[274270],,,,,Dihydropyrimidine dehydrogenase deficiency,FALSE,FALSE,Active +GARD:19000,Active,Orphanet,ORPHA:79369,Group of disorders,[Category],Isolated nail anomaly,,,,,,,,,,, +GARD:19001,Active,Orphanet,ORPHA:79370,Group of disorders,[Category],Syndromic nail anomaly,,,,,,,,,,, +GARD:19002,Active,Orphanet,ORPHA:79372,Group of disorders,[Category],Sebaceous gland anomaly,,,,,,,,,,, +GARD:19003,Active,Orphanet,ORPHA:79374,Group of disorders,[Category],Pigmentation anomaly of the skin,,,,,,,,,,, +GARD:19004,Active,Orphanet,ORPHA:79375,Group of disorders,[Category],Hyperpigmentation of the skin,,,,,,,,,,, +GARD:19005,Active,Orphanet,ORPHA:79376,Group of disorders,[Category],Hypopigmentation of the skin,,,,,,,,,,, +GARD:19006,Active,Orphanet,ORPHA:79377,Group of disorders,[Category],Dermis disorder,,,,,,,,,,, +GARD:19007,Active,Orphanet,ORPHA:79378,Group of disorders,[Category],Dermis elastic tissue disorder,,,,,,,,,,, +GARD:19008,Active,Orphanet,ORPHA:79379,Group of disorders,[Category],Skin vascular disease,,,,,,,,,,, +GARD:19009,Active,Orphanet,ORPHA:79380,Group of disorders,[Category],Mixed dermis disorder,,,,,,,,,,, +GARD:19010,Active,Orphanet,ORPHA:79381,Group of disorders,[Category],Other dermis disorder,,,,,,,,,,, +GARD:19011,Active,Orphanet,ORPHA:79382,Group of disorders,[Category],Subcutaneous tissue disease,,,,,,,,,,, +GARD:19012,Active,Orphanet,ORPHA:79384,Group of disorders,[Category],Rare urticaria,,,,,,,,,,, +GARD:19013,Active,Orphanet,ORPHA:79385,Group of disorders,[Category],Unclassified genetic skin disorder,,,,,,,,,,, +GARD:19014,Active,Orphanet,ORPHA:79386,Group of disorders,[Category],Rare skin tumor or hamartoma,,,,,,,,,,, +GARD:19015,Active,Orphanet,ORPHA:79387,Group of disorders,[Category],Metabolic disease with skin involvement,,,,,,,,,,, +GARD:19016,Active,Orphanet,ORPHA:79388,Group of disorders,[Category],Mucopolysaccharidosis with skin involvement,[MPS with skin involvement],,,,,,,,,, +GARD:19017,Active,Orphanet,ORPHA:79389,Group of disorders,[Category],Premature aging,,,,,,,,,,, +GARD:19018,Active,Orphanet,ORPHA:79390,Group of disorders,[Category],Rare photodermatosis,[Rare skin photosensitivity],,,,,,,,,, +GARD:19019,Active,Orphanet,ORPHA:79391,Group of disorders,[Category],Immune deficiency with skin involvement,,,,,,,,,,, +GARD:1902,Active,Orphanet,ORPHA:101150,Disorder,[Disease],Autosomal recessive dopa-responsive dystonia,"[Autosomal recessive Segawa syndrome, DYT5b, Tyrosine hydroxylase deficiency, Tyrosine hydroxylase-deficient dopa-responsive dystonia]",A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.,[605407],,,,,Tyrosine hydroxylase deficiency,TRUE,FALSE,Active +GARD:19020,Active,Orphanet,ORPHA:79467,Subtype of disorder,[Clinical subtype],Verrucous nevus,,,,,,,,,,, +GARD:19021,Active,Orphanet,ORPHA:79479,Disorder,[Disease],Pemphigus vegetans,,"A rare autoimmune bullous skin disease characterized by mucocutaneous bullae with subsequent erosion and formation of vegetative plaques, predominantly affecting intertriginous areas and the oral mucosa. Two clinical forms of the disease are recognized: the Hallopeau type, which presents an indolent course with pustules healing as vegetative plaques and frequent lack of involvement of the oral mucosa, and the Neumann type, which takes a more severe, refractory course with vegetations developing during an eruption of vesiculobullous lesions and involvement of the oral mucosa. Serum analysis reveals antibodies against desmoglein 1 and 3.",,,,,,,,, +GARD:19022,Active,Orphanet,ORPHA:79480,Disorder,[Disease],Pemphigus erythematosus,"[Seborrheic pemphigus, Senear-Usher syndrome]","A rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.",,,,,,,,, +GARD:19023,Active,Orphanet,ORPHA:79483,Subtype of disorder,[Clinical subtype],Phakomatosis cesioflammea,[Phakomatosis pigmentovascularis type 2],,,,,,,,,, +GARD:19024,Active,Orphanet,ORPHA:79484,Subtype of disorder,[Clinical subtype],Phakomatosis cesiomarmorata,[Phakomatosis pigmentovascularis type 5],,,,,,,,,, +GARD:19025,Active,Orphanet,ORPHA:79485,Subtype of disorder,[Clinical subtype],Phakomatosis spilorosea,[Phakomatosis pigmentovascularis type 3],,,,,,,,,, +GARD:19026,Active,Orphanet,ORPHA:79492,Disorder,[Disease],Pili gemini,[Pili multigemini],"Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.",,,,,,,,, +GARD:19027,Active,Orphanet,ORPHA:79651,Subtype of disorder,[Clinical subtype],Mild hyperphenylalaninemia,"[Mild HPA, Non-PKU HPA, mHPA]","A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders.",,,,,,,,, +GARD:19028,Active,Orphanet,ORPHA:79669,Group of disorders,[Clinical group],Autoimmune bullous skin disease,,,,,,,,,,, +GARD:19029,Active,Orphanet,ORPHA:83001,Group of disorders,[Category],Urogenital tract malformation,,,,,,,,,,, +GARD:1903,Active,Orphanet,ORPHA:230,Disorder,[Disease],Dopamine beta-hydroxylase deficiency,[DBH deficiency],A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.,[223360],,,,,Dopamine beta hydroxylase deficiency,TRUE,FALSE,Active +GARD:19030,Active,Orphanet,ORPHA:83312,Disorder,[Disease],Rickettsialpox,,"A rare, acquired, self-limiting, infectious disease due to the mite-borne bacteria Rickettsia akari characterized by an asymptomatic, 0.5 to 2 cm in diameter papulovesicle that typically ulcerates and forms an eschar, followed by a generalized papulovesicular rash associating variable constitutional symptoms, such as localized lymphadenopathy, fever, malaise, and headaches. Additonal symptoms may include diaphoresis, myalgia and, less frequently, rhinorrhea, pharyngitis, nausea, vomiting, splenomegaly, conjunctival hyperemia, and abdominal pain. Systemic symptoms resolve within 6-10 days.",,,,,,,,, +GARD:19031,Active,Orphanet,ORPHA:83313,Disorder,[Disease],Boutonneuse fever,[Mediterranean spotted fever],"A rare spotted fever rickettsiosis caused by infection with the tick-borne bacterium Rickettsia conorii, characterized by the onset of fever after an incubation period of about a week, followed by a centripetally spreading maculopapular rash, which may evolve into a petechial form. Accompanying symptoms are headaches, myalgia and/or arthralgia, among others. The typical ''tache noire'' may be observed at the site of the tick bite for several days. The disease is endemic in Africa, Southern Europe, and India.",,,,,,,,, +GARD:19032,Active,Orphanet,ORPHA:83314,Disorder,[Disease],Epidemic typhus,,"A Rickettsial disease characterized by malaise and vague symptoms before the onset of high fever, headache, severe myalgias and less commonly petechial rash on the trunk and limbs, nausea, vomiting, coughing and pneumonia. Most patients also have some central nervous system disturbances, such as meningeal irritation, confusion, drowsiness, seizures, coma, and hearing loss.",,,,,,,,, +GARD:19033,Active,Orphanet,ORPHA:83315,Disorder,[Disease],Murine typhus,"[Endemic typhus, Flea-borne typhus]","A Rickettsial disease characterized by headache, fever and macular or maculopapular rash, with only one-third of patients manifesting all three symptoms. Other common symptoms are chills, malaise, stomach pain, myalgia, loss of appetite, and in some cases confusion and altered level of consciousness. Classical laboratory abnormalities include elevated liver enzymes, lactate dehydrogenase, erythrocyte sedimentation rate and hypoalbuminemia. In children, typical symptoms occur in only half of patients, and abdominal pain, diarrhea, sore throat and anemia are more common.",,,,,,,,, +GARD:19034,Active,Orphanet,ORPHA:83316,Disorder,[Disease],Pseudotyphus of California,,"Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain). Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.",,,,,,,,, +GARD:19035,Active,Orphanet,ORPHA:83317,Disorder,[Disease],Scrub typhus,"[Tsutsugamushi disease, Tsutsugamushi fever]",Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.,,,,,,,,, +GARD:19036,Active,Orphanet,ORPHA:83450,Disorder,[Disease],Regional odontodysplasia,[Ghost teeth],Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.,,,,,,,,, +GARD:19037,Active,Orphanet,ORPHA:83453,Disorder,[Disease],Vulvovaginal gingival syndrome,,"A rare, non-malformative vulvovaginal disease characterized by a combination of erosive or desquamative lichen planus (LP) of vulval, vaginal and gingival mucosae, with a high propensity for scarring and stricture formation. Additional sites of involvement are frequently observed (in particular, tongue, buccal mucosae, skin and perianal LP). Patients may be asymptomatic or, more commonly, present with pain, burning, discomfort and bleeding, dyspareunia, and seropurulent vaginal discharge.",,,,,,,,, +GARD:19038,Active,Orphanet,ORPHA:83465,Disorder,[Disease],Narcolepsy type 2,[Narcolepsy without cataplexy],"A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and sometimes sleep paralysis, and hypnagogic/hypnopompic hallucinations.",,,,,,,,, +GARD:19039,Active,Orphanet,ORPHA:83468,Disorder,[Disease],Solitary bone cyst,[Unicameral bone cyst],"A benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.",,,,,,,,, +GARD:1904,Active,Orphanet,ORPHA:99796,Disorder,[Morphological anomaly],Subcortical band heterotopia,[Subcortical laminar heterotopia],"A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems.","[600348, 300067, 607432]",,,,,Subcortical band heterotopia,TRUE,FALSE,Active +GARD:19040,Active,Orphanet,ORPHA:83482,Disorder,[Disease],Mycoplasma encephalitis,,"Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).",,,,,,,,, +GARD:19041,Active,Orphanet,ORPHA:83484,Disorder,[Disease],St. Louis encephalitis,[Saint Louis encephalitis],"An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, and characterized by the onset of flulike symptoms such as fever, malaise, headache, cough, and sore throat that can progress to meningitis or encephalitis with symptoms like nausea, vomiting, confusion, stiff neck, disorientation, irritability, tremors, and convulsions. Photophobia, cranial nerve palsies, and even coma may occur.",,,,,,,,, +GARD:19042,Active,Orphanet,ORPHA:83595,Disorder,[Disease],Colorado tick fever,"[American mountain fever, Colorado tick encephalitis, Colorado tick-borne disease, Mountain fever, Mountain tick fever]","An acute arboviral infection caused by a Coltivirus transmitted by an infected tick and characterized by a biphasic fever with headache, myalgias, arthralgias, and fatigue that can last 3 weeks or more. In some cases, macular, maculopapular, or petechial rash and/or stiff neck, nausea, vomiting, abdominal pain, diarrhea, and sore throat may also occur.",,,,,,,,, +GARD:19043,Active,Orphanet,ORPHA:83616,Disorder,[Disease],Rubella panencephalitis,,"A rare chronic encephalitis developing up to several years after congenital rubella virus infection or rubella infection in childhood, characterized by slowly progressive, wide-spread neurological symptoms, like cognitive decline, cerebellar ataxia, spasticity, and seizures, amongst others. Progredient deterioration of the neurological disease eventually leads to the death of the patient.",,,,,,,,, +GARD:19044,Active,Orphanet,ORPHA:83619,Disorder,[Malformation syndrome],Macrostomia-preauricular tags-external ophthalmoplegia syndrome,,"A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.",,,,,,,,, +GARD:19045,Active,Orphanet,ORPHA:83628,Disorder,[Malformation syndrome],LUMBAR syndrome,"[Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome, PELVIS syndrome, Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome, SACRAL syndrome]","A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.",,,,,,,,, +GARD:19046,Active,Orphanet,ORPHA:84065,Disorder,[Disease],Idiopathic malabsorption due to bile acid synthesis defects,[Idiopathic bile acid malabsorption],A dirsorder that is due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.,,,,,,,,, +GARD:19047,Active,Orphanet,ORPHA:84085,Disorder,[Disease],Hinman syndrome,"[HAS, HS, Hinman-Allen syndrome, Non-neurogenic neurogenic bladder, Occult neuropathic bladder]",Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.,,,,,,,,, +GARD:19048,Active,Orphanet,ORPHA:84087,Disorder,[Disease],Collagen type III glomerulopathy,[Collagenofibrotic glomerulopathy],"A rare non-immune-mediated glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. Progression to end-stage kidney failure is possible.",,,,,,,,, +GARD:19049,Active,Orphanet,ORPHA:85168,Disorder,[Malformation syndrome],Craniofacial conodysplasia,,"Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.",,,,,,,,, +GARD:1905,Legacy,GARD,,,,,,,,,,,,Double discordia,TRUE,FALSE,Active +GARD:19050,Active,Orphanet,ORPHA:85175,Disorder,[Malformation syndrome],Astley-Kendall dysplasia,,"A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.",,,,,,,,, +GARD:19051,Active,Orphanet,ORPHA:85198,Disorder,[Malformation syndrome],Dysspondyloenchondromatosis,,"Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.",,,,,,,,, +GARD:19052,Active,Orphanet,ORPHA:85200,Disorder,[Malformation syndrome],Ischiovertebral syndrome,"[Ischiospinal dysostosis, Ischiovertebral dysplasia]","Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.",,,,,,,,, +GARD:19053,Active,Orphanet,ORPHA:85317,Disorder,[Malformation syndrome],X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.",,,,,,,,, +GARD:19054,Active,Orphanet,ORPHA:85319,Disorder,[Malformation syndrome],X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome,,"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.",,,,,,,,, +GARD:19055,Active,Orphanet,ORPHA:85320,Disorder,[Malformation syndrome],X-linked intellectual disability-macrocephaly-macroorchidism syndrome,[Johnson syndrome],"An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.",,,,,,,,, +GARD:19056,Active,Orphanet,ORPHA:85322,Disorder,[Malformation syndrome],"X-linked intellectual disability, Pai type",,"A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.",,,,,,,,, +GARD:19057,Active,Orphanet,ORPHA:85323,Disorder,[Disease],"X-linked intellectual disability, Seemanova type",,"X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.",,,,,,,,, +GARD:19058,Active,Orphanet,ORPHA:85325,Disorder,[Malformation syndrome],"X-linked intellectual disability, Stevenson type",,"X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.",,,,,,,,, +GARD:19059,Active,Orphanet,ORPHA:85326,Disorder,[Malformation syndrome],"X-linked intellectual disability, Stoll type",,"X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.",,,,,,,,, +GARD:1906,Legacy,GARD,,,,,,,,,,,,Double fingernail of fifth finger,TRUE,FALSE,Active +GARD:19060,Active,Orphanet,ORPHA:85327,Disorder,[Disease],X-linked intellectual disability-acromegaly-hyperactivity syndrome,,"X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.",,,,,,,,, +GARD:19061,Active,Orphanet,ORPHA:85334,Disorder,[Disease],"X-linked neurodegenerative syndrome, Bertini type",,"An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.",,,,,,,,, +GARD:19062,Active,Orphanet,ORPHA:85336,Disorder,[Disease],"X-linked neurodegenerative syndrome, Hamel type",,"An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death.",,,,,,,,, +GARD:19063,Active,Orphanet,ORPHA:85338,Disorder,[Disease],X-linked intellectual disability-ataxia-apraxia syndrome,,"A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.",,,,,,,,, +GARD:19064,Active,Orphanet,ORPHA:85435,Disorder,[Disease],Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis,"[Juvenile idiopathic rheumatoid factor-positive polyarthritis, Juvenile polyarthritis with rheumatoid factor, Rheumatoid factor-positive polyarticular JIA]",A rare form of juvenile idiopathic arthritis characterized by distal and symmetrical polyarthritis (more than 5 joints) with presence of rheumatoid factor and possible evolution towards the appearance of erosions and joint destruction.,,,,,,,,, +GARD:19065,Active,Orphanet,ORPHA:85446,Disorder,[Disease],Wild type ABeta2M amyloidosis,"[ABeta2Mwt amyloidosis, Dialysis-related amyloidosis, Dialysis-related arthropathy, Wild type ABeta2-microglobulinic amyloidosis]","A form of amyloidosis affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (β2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.",,,,,,,,, +GARD:19066,Active,Orphanet,ORPHA:86797,Disorder,[Disease],Atypical lichen myxedematosus,[Intermediate lichen myxedematosus],"An intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.",,,,,,,,, +GARD:19067,Active,Orphanet,ORPHA:86821,Disorder,[Malformation syndrome],Lissencephaly type 3-familial fetal akinesia sequence syndrome,,"Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia (see these terms).",,,,,,,,, +GARD:19068,Active,Orphanet,ORPHA:86823,Group of disorders,[Clinical group],Lissencephaly with cerebellar hypoplasia,[LCH],"Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.",,,,,,,,, +GARD:19069,Active,Orphanet,ORPHA:86836,Group of disorders,[Clinical group],Refractory cytopenia with multilineage dysplasia,,Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS; see this term) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.,,,,,,,,, +GARD:1907,Active,Orphanet,ORPHA:3427,Disorder,[Morphological anomaly],Double outlet left ventricle,[DOLV],"Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.",,,,,,Double outlet left ventricle,TRUE,FALSE,Active +GARD:19070,Active,Orphanet,ORPHA:86839,Disorder,[Disease],Refractory anemia with excess blasts,[RAEB],Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS; see this term) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood.,,,,,,,,, +GARD:19071,Active,Orphanet,ORPHA:86849,Disorder,[Disease],Acute basophilic leukemia,,"A rare acute myeloid leukemia characterized by primary differentiation to basophils. Microscopically, peripheral blood and bone marrow blasts contain coarse cytoplasmic basophilic granules which are positive with metachromatic staining (toluidine blue). Electron microscopy confirms that granules show features characteristic of basophil precursors. Mature basophils are usually sparse. Patients may present with manifestations related to bone marrow failure, as well as hepatosplenomegaly, cutaneous involvement, lytic lesions, and hyperhistaminemia. The disease is associated with a poor prognosis.",,,,,,,,, +GARD:19072,Active,Orphanet,ORPHA:86854,Disorder,[Disease],Splenic marginal zone lymphoma,[SMZL],"Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.",,,,,,,,, +GARD:19073,Active,Orphanet,ORPHA:86861,Disorder,[Disease],Non-amyloid monoclonal immunoglobulin deposition disease,"[Non-amyloid MIDD, Randall disease]","A rare, secondary glomerular disease characterized by proteinuria, dysproteinemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organization and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibers, gastrointestinal tract, or skin.",,,,,,,,, +GARD:19074,Active,Orphanet,ORPHA:86864,Disorder,[Disease],Heavy chain disease,[HCD],Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.,,,,,,,,, +GARD:19075,Active,Orphanet,ORPHA:86867,Disorder,[Disease],Nodal marginal zone B-cell lymphoma,[NMZL],"Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.",,,,,,,,, +GARD:19076,Active,Orphanet,ORPHA:86875,Disorder,[Disease],Adult T-cell leukemia/lymphoma,[ATLL],"A rare, virus associated tumor due to human T-cell leukemia virus type 1 or human T-cell lymphotropic virus type 1 (HTLV-1) and is characterized by the presence of anti-HTLV-1 antibodies, and malignant, mature, medium-sized T cells with condensed chromatin and polylobated nuclei. The malignant cells exhibit a mature CD4+ T cells phenotype and express CD2, CD5, CD25, CD45RO, HLA-DR, and T-cell receptor αβ. Presentation is heterogeneous and is typically of aggressive leukemia or lymphoma, variable skin eruptions, and visceral organ involvement.",,,,,,,,, +GARD:19077,Active,Orphanet,ORPHA:86882,Disorder,[Disease],Hepatosplenic T-cell lymphoma,,"A rare T-cell non-Hodgkin lymphoma characterized by a proliferation of cytotoxic T-cells, usually gamma delta T-cells, with involvement of the liver and spleen, but without involvement of lymph nodes. The bone marrow is consistently affected. Patients typically present during adolescence or young adulthood with hepatosplenomegaly, pancytopenia, and systemic symptoms. Peripheral blood involvement may develop later in the disease course. There is a clear male preponderance. The disease often occurs in the context of long-term immunosuppression. The course is aggressive with poor therapy response.",,,,,,,,, +GARD:19078,Active,Orphanet,ORPHA:86885,Disorder,[Disease],Primary cutaneous peripheral T-cell lymphoma not otherwise specified,"[Primary cutaneous peripheral T-cell lymphoma NOS, Primary cutaneous unspecified peripheral T-cell lymphoma]","An extremely rare, primary cutaneous T-cell lymphoma disorder characterized by solitary, or multifocal and diffuse, cutaneous lesions, ranging from tumor-like patches, plaques, papules, nodules, and/or erythroderma, located on any area of the body, which rapidly progress and may become ulcerated and/or infected. Systemic involvement may be associated.",,,,,,,,, +GARD:19079,Active,Orphanet,ORPHA:86893,Disorder,[Disease],Nodular lymphocyte predominant Hodgkin lymphoma,[NLPHL],Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare subtype of Hodgkin lymphoma (HL; see this term) characterized histologically by malignant lymphocyte predominant (LP) cells and the absence of typical Hodgkin and Reed-Sternberg (HRS) cells.,,,,,,,,, +GARD:1908,Active,Orphanet,ORPHA:3426,Disorder,[Morphological anomaly],Double outlet right ventricle,[DORV],"A rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.",[217095],,,,,Double outlet right ventricle,TRUE,FALSE,Active +GARD:19080,Active,Orphanet,ORPHA:86896,Disorder,[Disease],Histiocytic sarcoma,,"A rare histiocytic tumor characterized by a malignant proliferation of cells showing morphological and immunophenotypic features of mature tissue histiocytes. Most cases occur in extranodal sites, most commonly the intestinal tract, skin, and soft tissue. Patients may present with a solitary mass, lymphadenopathy, a skin rash or numerous tumors on the trunk and extremities, lytic bone lesions, hepatosplenomegaly with pancytopenia, intestinal obstruction, and/or systemic symptoms. The neoplasm is aggressive with typically poor therapy response.",,,,,,,,, +GARD:19081,Active,Orphanet,ORPHA:86902,Disorder,[Disease],Follicular dendritic cell sarcoma,,"A rare dendritic cell neoplasm characterized by a proliferation of spindled to ovoid cells with morphological and immunophenotypic features of follicular dendritic cells. Conventional follicular dendritic cell sarcomas are negative for EBV. The tumor arises as a painless, slow-growing mass in lymph nodes (most often cervical), extranodal sites (such as tonsils, gastrointestinal tract, soft tissue, mediastinum, or lung, among others), or both. Paraneoplastic pemphigus may occur in rare cases. Predictive factors are tumor size, presence of coagulative necrosis, mitotic count, and presence of significant cytological atypia.",,,,,,,,, +GARD:19082,Active,Orphanet,ORPHA:86903,Disorder,[Disease],Dendritic cell sarcoma not otherwise specified,,"A rare dendritic cell tumor characterized by a neoplasm composed of spindled to ovoid cells with phenotypic features similar to those of normal indeterminate cells. The tumor cells consistently express S100 protein and CD1a, while langerin, specific B- and T-cell markers, CD30, the histiocytic marker CD163, and the follicular dendritic cell markers CD21, CD23, and CD35 are negative. Birbeck granules are absent on ultrastructural examination. Patients typically present with multiple papules, nodules, or plaques of the skin. Primary lymph node or splenic involvement is less common. Systemic symptoms are usually absent. The clinical course is highly variable.",,,,,,,,, +GARD:19083,Active,Orphanet,ORPHA:86904,Disorder,[Disease],Methotrexate-associated lymphoproliferative disorders,"[MTX-LPD, MTX-associated lymphoproliferative disorders]","Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.",,,,,,,,, +GARD:19084,Active,Orphanet,ORPHA:86906,Disorder,[Disease],Hypothalamic hamartomas with gelastic seizures,,"Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.",,,,,,,,, +GARD:19085,Active,Orphanet,ORPHA:86908,Disorder,[Disease],Idiopathic hemiconvulsion-hemiplegia syndrome,"[HHE syndrome, Hemiconvulsion-hemiplegia-epilepsy syndrome, IHHS]","A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.",,,,,,,,, +GARD:19086,Active,Orphanet,ORPHA:86909,Disorder,[Disease],Myoclonic epilepsy of infancy,"[Benign myoclonic epilepsy of infancy, Benign myoclonus epilepsy of infancy]","A rare infantile epilepsy syndrome characterized by infancy-onset of myoclonic seizures in otherwise neurologically and developmentally normal patients. Jerks may vary in severity, can be singular or occur in a series, and occur spontaneously or (less commonly) after sensory stimuli. Seizures are self-limiting and remit within several months to years from onset, although generalized tonic-clonic seizures or other forms of epilepsy may be seen later in life. Developmental delay and cognitive and behavioral difficulties have been reported in a considerable percentage of patients.",,,,,,,,, +GARD:19087,Active,Orphanet,ORPHA:86911,Disorder,[Disease],Epilepsy with myoclonic absences,,"A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders.",,,,,,,,, +GARD:19088,Active,Orphanet,ORPHA:86913,Disorder,[Malformation syndrome],Myoclonic epilepsy in non-progressive encephalopathies,"[Myoclonic status in non-progressive encephalopathies, Myoclonus epilepsy in non-progressive encephalopathies]","Myoclonic epilepsy in non-progressive encephalopathies is a rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.",,,,,,,,, +GARD:19089,Active,Orphanet,ORPHA:86918,Disorder,[Disease],Diffuse palmoplantar keratoderma-acrocyanosis syndrome,[Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome],Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.,,,,,,,,, +GARD:19090,Active,Orphanet,ORPHA:87277,Group of disorders,[Category],Rare intellectual disability,,,,,,,,,,, +GARD:19091,Active,Orphanet,ORPHA:87884,Disorder,[Disease],Non-syndromic genetic deafness,"[Isolated genetic deafness, Isolated genetic hearing loss, Non-syndromic genetic hearing loss]","Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin.",,,,,,,,, +GARD:19092,Active,Orphanet,ORPHA:88643,Disorder,[Disease],Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome,,"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.",,,,,,,,, +GARD:19093,Active,Orphanet,ORPHA:88660,Disorder,[Disease],Hypertension due to gain-of-function mutations in the mineralocorticoid receptor,"[Early-onset hypertension with exacerbation in pregnancy, Pseudohyperaldosteronism type 2]","Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.",,,,,,,,, +GARD:19094,Active,Orphanet,ORPHA:88991,Group of disorders,[Category],Rare congenital non-syndromic heart malformation,,,,,,,,,,, +GARD:19095,Active,Orphanet,ORPHA:88993,Group of disorders,[Category],Esophageal malformation,,,,,,,,,,, +GARD:19096,Active,Orphanet,ORPHA:89043,Group of disorders,[Category],Rare dementia,,,,,,,,,,, +GARD:19097,Active,Orphanet,ORPHA:90002,Disorder,[Disease],Undifferentiated connective tissue syndrome,[UCTD],"A rare systemic autoimmune disease characterized by the presence of signs and symptoms suggestive of a systemic autoimmune disease that do not fulfil the existing classification criteria. The main clinical manifestations are arthritis with arthralgia, Raynaud's phenomenon, xerostomia, xerophthalmia, and leukopenia, while neurologic or renal involvement are virtually absent.",,,,,,,,, +GARD:19098,Active,Orphanet,ORPHA:90003,Disorder,[Disease],Inflammatory pseudotumor of the liver,,"A rare benign liver tumor characterized by a prominent inflammatory infiltrate and often mimicking a malignant liver neoplasm. The tumor is frequently solitary with a predilection for the right lobe; however, multiple lesions are possible. There are two clinicopathological subtypes: fibrohistiocytic inflammatory pseudotumor of the liver and lymphoplasmacytic inflammatory pseudotumor of the liver. Patients present with non-specific clinical symptoms such as abdominal pain or discomfort, fever, and weight loss. The condition may be associated with other chronic inflammatory or autoimmune diseases.",,,,,,,,, +GARD:19099,Active,Orphanet,ORPHA:90021,Disorder,[Disease],Radiation myelitis,,"Radiation myelitis is a rare neurological disease characterized by the development of paresthesias, as well as, in severe cases, progressive paresis and paralysis following irradiation of tumors in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered.",,,,,,,,, +GARD:191,Legacy,GARD,,,,,,,,,,,,Kashani Strom Utley syndrome,TRUE,FALSE,Active +GARD:1910,Active,Orphanet,ORPHA:3411,Disorder,[Malformation syndrome],Double uterus-hemivagina-renal agenesis syndrome,"[Double uterus and obstructed hemivagina syndrome, Herlyn-Werner syndrome, OHVIRA syndrome, Obstructed hemivagina and ipsilateral renal anomaly, Wunderlich syndrome]","A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.",[192050],,,,,Double uterus-hemivagina-renal agenesis,TRUE,FALSE,Active +GARD:19100,Active,Orphanet,ORPHA:90025,Group of disorders,[Category],Non-syndromic syndactyly,,"A group of rare, congenital, non-syndromic distal limb malformation disorders characterized by webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. The morphological anomaly can be unilateral or bilateral, symmetrical or asymmetrical, depending on the specific type.",,,,,,,,, +GARD:19101,Active,Orphanet,ORPHA:90036,Disorder,[Disease],Mixed-type autoimmune hemolytic anemia,[Mixed AIHA],"Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.",,,,,,,,, +GARD:19102,Active,Orphanet,ORPHA:90037,Disorder,[Disease],Drug-induced autoimmune hemolytic anemia,[Drug-induced AIHA],"Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.",,,,,,,,, +GARD:19103,Active,Orphanet,ORPHA:90039,Disorder,[Disease],Hemoglobin D disease,,"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).",,,,,,,,, +GARD:19104,Active,Orphanet,ORPHA:90041,Disorder,[Disease],Gaisböck syndrome,"[Stress erythrocytosis, Stress polycythemia]",Gaisbock syndrome is characterised by secondary polycythemia.,,,,,,,,, +GARD:19105,Active,Orphanet,ORPHA:90051,Disorder,[Particular clinical situation in a disease or syndrome],Sepsis in premature infants,,"A rare systemic condition affecting neonates born at less than 37 weeks gestational age and characterized by life-threatening organ dysfunction caused by a dysregulated host response to an infection, which may have been acquired shortly before or during birth (resulting in early-onset neonatal sepsis during the first 72 hours of life), or after birth (leading to late-onset neonatal sepsis between 72 hours and three months). Prematurity constitutes one of the primary risk factors for neonatal sepsis. The clinical picture may develop gradually with signs and symptoms like irritability, lethargy, or poor feeding, or progress rapidly to respiratory distress, fever, hypothermia, hypotension, shock, and multiple organ failure.",,,,,,,,, +GARD:19106,Active,Orphanet,ORPHA:90052,Disorder,[Particular clinical situation in a disease or syndrome],Recurrent hepatitis C virus induced liver disease in liver transplant recipients,,"A rare hepatic disease characterized by recurrence of hepatitis C virus infection after liver transplantation, leading to liver injury with features resembling those observed in the non-transplant graft, and typically developing after three months post-transplantation. The clinical course is highly variable, although patients most commonly develop progressive chronic liver disease with higher viral loads and more rapid fibrosis progression than in the immunocompetent population.",,,,,,,,, +GARD:19107,Active,Orphanet,ORPHA:90053,Disorder,[Particular clinical situation in a disease or syndrome],Complications after hematopoietic stem cell transplantation,[Complications after HSCT],,,,,,,,,, +GARD:19108,Active,Orphanet,ORPHA:90056,Disorder,[Particular clinical situation in a disease or syndrome],Moderate and severe traumatic brain injury,,"A rare neurologic condition characterized by brain damage caused by an external mechanical force, with a Glasgow Coma Scale score of 9 to 12 in moderate traumatic brain injury (TBI), or 3 to 8 in severe TBI, respectively. TBI can be closed (with the dura mater remaining intact) or open (with penetration of the dura mater) and may lead to focal damage, such as cerebral contusion and hemorrhage, as well as diffuse axonal injury and secondary damage due to increased intracranial pressure. Signs and symptoms are highly variable, depending on the nature, severity, localization, and extent of the trauma.",,,,,,,,, +GARD:19109,Active,Orphanet,ORPHA:90058,Disorder,[Particular clinical situation in a disease or syndrome],Spinal cord injury,,,,,,,,,,, +GARD:19110,Active,Orphanet,ORPHA:90060,Disorder,[Clinical syndrome],Diffuse alveolar hemorrhage,,"A rare clinical situation for which there is a European and/or American orphan designation. Characteristics include diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis.",,,,,,,,, +GARD:19111,Active,Orphanet,ORPHA:90061,Group of disorders,[Category],Non-infectious posterior uveitis,[Non-infectious choroiditis],,,,,,,,,, +GARD:19112,Active,Orphanet,ORPHA:90062,Disorder,[Clinical syndrome],Acute liver failure,"[Acute hepatic failure, Fulminant hepatic failure]","A rare hepatic disease characterized by acute onset of severe liver dysfunction without evidence of underlying chronic liver disease. Patients present with nonspecific symptoms like jaundice, upper right abdominal pain, nausea, vomiting, pruritus, fatigue, and fever. The condition may rapidly progress to hepatic encephalopathy, coagulopathy, and life-threatening multiorgan failure. Liver biopsy typically shows massive hepatic necrosis.",,,,,,,,, +GARD:19113,Active,Orphanet,ORPHA:90064,Disorder,[Particular clinical situation in a disease or syndrome],Acute peripheral arterial occlusion,,,,,,,,,,, +GARD:19114,Active,Orphanet,ORPHA:90065,Disorder,[Particular clinical situation in a disease or syndrome],Acquired aneurysmal subarachnoid hemorrhage,,"A rare, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.",,,,,,,,, +GARD:19115,Active,Orphanet,ORPHA:90068,Disorder,[Disease],Cocaine intoxication,,"A rare disorder due to poisoning characterized by variable combination and dose-dependent severity of clinical manifestations, affecting behavior, central nervous and cardiovascular system. Patients present with euphoria, irritability, agitation, psychosis, hallucinations, paranoia, seizures, decreased responsiveness, mydriasis, tachyarrhythmia, chest pain, and cardiovascular collapse. Sometimes also dyspnea, hypertension, hyperthermia, hypothermia, lack of sleep and serotonin syndrome are present. Severe intoxication may lead to coma and death.",,,,,,,,, +GARD:19116,Active,Orphanet,ORPHA:90069,Disorder,[Disease],Systemic monochloroacetate poisoning,,"Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.",,,,,,,,, +GARD:19117,Active,Orphanet,ORPHA:90073,Disorder,[Particular clinical situation in a disease or syndrome],Hepatitis B reinfection following liver transplantation,,"A rare hepatic disease characterized by graft infection with the hepatitis B virus (HBV) after liver transplantation, due to persistence and reactivation of HBV in extrahepatic sites (also despite previous clearance of the HBs antigen from serum, as shown by laboratory examination), followed by re-invasion of the graft. It may develop between two weeks and several years post transplantation. Clinico-pathological features are variable and range from mild self-limited hepatitis, chronic active hepatitis, and fulminant hepatitis, to fibrosing cholestatic hepatitis. The condition is associated with significantly reduced graft survival rates and overall patient survival.",,,,,,,,, +GARD:19118,Active,Orphanet,ORPHA:90076,Disorder,[Particular clinical situation in a disease or syndrome],Partial deep dermal and full thickness burns,,,,,,,,,,, +GARD:19119,Active,Orphanet,ORPHA:90077,Group of disorders,[Category],Other acquired skin disease,,,,,,,,,,, +GARD:1912,Active,Orphanet,ORPHA:75376,Disorder,[Disease],Familial drusen,"[DHRD, Dominant drusen, Dominant radial drusen, Doyne honeycomb retinal dystrophy, Malattia leventinese]","A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage.","[126700, 126600]",,,,,Doyne honeycomb retinal dystrophy,TRUE,FALSE,Active +GARD:19120,Active,Orphanet,ORPHA:90078,Disorder,[Particular clinical situation in a disease or syndrome],Invasive infections due to vancomycin-resistant enterococci,[Invasive infections due to VRE],,,,,,,,,, +GARD:19121,Active,Orphanet,ORPHA:90080,Disorder,[Particular clinical situation in a disease or syndrome],Scarring in glaucoma filtration surgical procedures,,,,,,,,,,, +GARD:19122,Active,Orphanet,ORPHA:90081,Disorder,[Particular clinical situation in a disease or syndrome],AIDS wasting syndrome,,,,,,,,,,, +GARD:19123,Active,Orphanet,ORPHA:90118,Disorder,[Disease],Severe early-onset axonal neuropathy due to MFN2 deficiency,"[AR-CMT2, Ouvrier type, Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type, SEOAN due to MFN2 deficiency]","Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.",,,,,,,,, +GARD:19124,Active,Orphanet,ORPHA:90119,Disorder,[Disease],Hereditary motor and sensory neuropathy with acrodystrophy,"[AR-CMT2 with acrodystrophy, Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy, Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy, HMSN with acrodystrophy]","Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.",,,,,,,,, +GARD:19125,Active,Orphanet,ORPHA:90156,Disorder,[Disease],Centrifugal lipodystrophy,[Lipodystrophia centrifugalis abdominalis infantilis],"Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.",,,,,,,,, +GARD:19126,Active,Orphanet,ORPHA:90157,Disorder,[Disease],Drug-induced localized lipodystrophy,[Lipoatrophy caused by injected drug],"Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.",,,,,,,,, +GARD:19127,Active,Orphanet,ORPHA:90158,Disorder,[Disease],Idiopathic localized lipodystrophy,,"Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).",,,,,,,,, +GARD:19128,Active,Orphanet,ORPHA:90159,Disorder,[Disease],Panniculitis-induced localized lipodystrophy,,"Panniculitis-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy disorder characterized by eruption of tender, occasionally painful, erythematous nodules and plaques which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically, lesions are characterized by lipophagic, lobular panniculitis and absence of vasculitis.",,,,,,,,, +GARD:19129,Active,Orphanet,ORPHA:90160,Disorder,[Disease],Pressure-induced localized lipoatrophy,"[Lipoatrophia semicircularis, Semicircular lipoatrophy]","Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.",,,,,,,,, +GARD:1913,Legacy,GARD,,,,,,,,,,,,Drachtman Weinblatt Sitarz syndrome,TRUE,FALSE,Active +GARD:19130,Active,Orphanet,ORPHA:90280,Disorder,[Disease],Chilblain lupus,,"A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.",,,,,,,,, +GARD:19131,Active,Orphanet,ORPHA:90281,Disorder,[Disease],Discoid lupus erythematosus,,"A rare form of chronic cutaneous lupus erythematosus characterized by erythematous, scaly papules and plaques preferentially occurring on sun-exposed skin areas (scalp, face, and ears) and exhibiting follicular plugging, pigmentary changes, and central atrophy, scarring, and telangiectasia. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and involvement of the dermoepidermal junction with thickening of the basement membrane and vacuolar degeneration of the basal cells. A small percentage of patients may develop systemic lupus erythematosus.",,,,,,,,, +GARD:19132,Active,Orphanet,ORPHA:90282,Disorder,[Disease],Hypertrophic or verrucous lupus erythematosus,,"Hypertrophic or verrucous lupus erythematosus is a rare type of chronic cutaneous lupus erythematosus characterized by the appearance of lesions on sun-exposed areas (frequently the extensor surfaces of forearms, face, upper trunk) which vary from squamous violet, painful papules and blackish hyperkeratotic ulcers to depigmented atrophic plaques on the back, hyperkeratotic papules on upper extremities, and disseminated keratoacanthoma-like papulonodular verrucous lesions. Classic discoid lesions and squamous cell carcinoma may be associated. Histopathology reveals follicular plugging, liquefactive basal layer degeneration and a perivascular lymphocytic infiltrate.",,,,,,,,, +GARD:19133,Active,Orphanet,ORPHA:90285,Disorder,[Disease],Lupus erythematosus panniculitis,[Lupus erythematosus profundus],"A rare form of chronic cutaneous lupus erythematosus characterized by recurrent, indurated, erythematous plaques and subcutaneous nodules with normal overlying epidermis, occurring predominantly on the face, upper arms, trunk, buttocks, and thighs. The lesions can ulcerate and lead to scarring. Histological findings include lobular lymphocytic panniculitis, hyaline fat necrosis, mucin deposition, and calcification. The condition may be associated with discoid or systemic lupus erythematosus.",,,,,,,,, +GARD:19134,Active,Orphanet,ORPHA:90350,Group of disorders,[Clinical group],Autosomal recessive cutis laxa type 2,"[ARCL2, Cutis laxa with joint laxity and developmental delay]","A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic autosomal recessive cutis laxa type 2 (ARCL2, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).",,,,,,,,, +GARD:19135,Active,Orphanet,ORPHA:90363,Disorder,[Disease],Secondary intestinal lymphangiectasia,,"Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia (see this term) manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome (see these terms) and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.",,,,,,,,, +GARD:19136,Active,Orphanet,ORPHA:90389,Subtype of disorder,[Clinical subtype],Telangiectasia macularis eruptiva perstans,,,,,,,,,,, +GARD:19137,Active,Orphanet,ORPHA:90393,Disorder,[Disease],Nodular lichen myxedematosus,[Atypical tuberous myxedema of Jadassohn-Dosseker],"Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus (see this term) characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.",,,,,,,,, +GARD:19138,Active,Orphanet,ORPHA:90394,Disorder,[Disease],Discrete papular lichen myxedematosus,,"Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus (see this term) characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.",,,,,,,,, +GARD:19139,Active,Orphanet,ORPHA:90395,Disorder,[Disease],Papular mucinosis of infancy,[Cutaneous mucinosis of infancy],Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus (see this term) characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.,,,,,,,,, +GARD:19140,Active,Orphanet,ORPHA:90396,Disorder,[Disease],Acral persistent papular mucinosis,,A rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.,,,,,,,,, +GARD:19141,Active,Orphanet,ORPHA:90397,Disorder,[Disease],Self-healing papular mucinosis,,"Self-healing papular mucinosis is a rare form of localized lichen myxedematosus (see this term) occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.",,,,,,,,, +GARD:19142,Active,Orphanet,ORPHA:90398,Subtype of disorder,[Clinical subtype],Localized lichen myxedematosus with mixed features of different subtypes,,"Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus (see this term), characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM (see these terms).",,,,,,,,, +GARD:19143,Active,Orphanet,ORPHA:90399,Subtype of disorder,[Clinical subtype],Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms,,"Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus (see this term), characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus (see these terms); a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.",,,,,,,,, +GARD:19144,Active,Orphanet,ORPHA:90400,Subtype of disorder,[Clinical subtype],Scleromyxedema without monoclonal gammopathy,,"Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus (see this term), characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.",,,,,,,,, +GARD:19145,Active,Orphanet,ORPHA:90642,Group of disorders,[Category],Syndromic genetic deafness,[Syndromic genetic hearing loss],,,,,,,,,, +GARD:19146,Active,Orphanet,ORPHA:90692,Group of disorders,[Category],Rare endocrine growth disease,,,,,,,,,,, +GARD:19147,Active,Orphanet,ORPHA:90771,Group of disorders,[Category],Disorder of sex development,[DSD],,,,,,,,,, +GARD:19148,Active,Orphanet,ORPHA:90776,Group of disorders,[Category],"46,XX disorder of sex development induced by fetal androgens excess","[46,XX DSD induced by fetal androgens excess]",,,,,,,,,, +GARD:19149,Active,Orphanet,ORPHA:90783,Group of disorders,[Category],"46,XY disorder of sex development due to a testosterone synthesis defect","[46,XY DSD due to a testosterone synthesis defect]",,,,,,,,,, +GARD:1915,Legacy,GARD,,,,,,,,,,,,Duane anomaly mental retardation,TRUE,FALSE,Retired +GARD:19150,Active,Orphanet,ORPHA:90786,Group of disorders,[Category],"46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect","[46,XY DSD due to adrenal and testicular steroidogenesis defect]",,,,,,,,,, +GARD:19151,Active,Orphanet,ORPHA:90787,Group of disorders,[Category],"46,XY disorder of sex development due to testicular steroidogenesis defect","[46,XY DSD due to testicular steroidogenesis defect]",,,,,,,,,, +GARD:19152,Active,Orphanet,ORPHA:91088,Group of disorders,[Category],Other metabolic disease,,,,,,,,,,, +GARD:19153,Active,Orphanet,ORPHA:91127,Disorder,[Particular clinical situation in a disease or syndrome],Adenovirus infection in immunocompromised patients,,,,,,,,,,, +GARD:19154,Active,Orphanet,ORPHA:91136,Disorder,[Disease],Acquired monoclonal Ig light chain-associated Fanconi syndrome,"[Acquired Fanconi syndrome secondary to monoclonal gammopathy, Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome]","A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.",,,,,,,,, +GARD:19155,Active,Orphanet,ORPHA:91140,Disorder,[Disease],Unspecified juvenile idiopathic arthritis,[Unspecified JIA],"Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.",,,,,,,,, +GARD:19156,Active,Orphanet,ORPHA:91144,Group of disorders,[Category],"46,XX disorder of sex development induced by maternal-derived androgen","[46,XX DSD induced by maternal-derived androgen]",,,,,,,,,, +GARD:19157,Active,Orphanet,ORPHA:91347,Disorder,[Disease],TSH-secreting pituitary adenoma,"[Pituitary thyrotrophic adenoma, TSH-oma, Thyroid stimulating hormone-secreting pituitary adenoma, Thyrotroph adenoma]","A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symptoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly.",,,,,,,,, +GARD:19158,Active,Orphanet,ORPHA:91348,Disorder,[Disease],Functioning gonadotropic adenoma,"[Functioning pituitary gonadotropic adenoma, Gonadotroph adenoma]","Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).",,,,,,,,, +GARD:19159,Active,Orphanet,ORPHA:91349,Disorder,[Disease],Non-functioning pituitary adenoma,[NFPA],"A rare pituitary tumor originating from normally hormone-producing cells of the adenohypophysis, characterized by a sellar or extrasellar mass manifesting with clinical signs secondary to mass effect, but without evidence for hormonal hypersecretion. Typical manifestations are visual disturbances, headaches, cranial nerve dysfunction, and hypopituitarism but the mass may also be discovered incidentally.",,,,,,,,, +GARD:19160,Active,Orphanet,ORPHA:91350,Disorder,[Disease],Pituitary deficiency due to Rathke cleft cysts,,"A rare, acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size, and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea.",,,,,,,,, +GARD:19161,Active,Orphanet,ORPHA:91351,Disorder,[Disease],Pituitary dermoid and epidermoid cysts,,"Pituitary dermoid and epidermoid cysts is a rare, acquired pituitary hormone deficiency characterized by the presence of rare, benign tumor in the sellar region. Clinical presentation is either acute or insidious, and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances, and pituitary dysfunction.",,,,,,,,, +GARD:19162,Active,Orphanet,ORPHA:91352,Subtype of disorder,[Clinical subtype],Germinoma of the central nervous system,,"A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity.",,,,,,,,, +GARD:19163,Active,Orphanet,ORPHA:91354,Disorder,[Disease],Pituitary deficiency due to empty sella turcica syndrome,[Hypopituitarism due to empty sella turcica syndrome],"A rare pituitary deficiency characterized by herniation of the subarachnoid space into the sella turcica, resulting in flattening of the pituitary gland and endocrine dysfunction. Most common endocrine abnormalities are hyperprolactinemia and growth hormone deficit. Clinical symptoms are highly variable and include headaches, irregular menstruation, galactorrhea, obesity, and visual disturbances, among others.",,,,,,,,, +GARD:19164,Active,Orphanet,ORPHA:91357,Group of disorders,[Clinical group],Duplication of the esophagus,,,,,,,,,,, +GARD:19165,Active,Orphanet,ORPHA:91358,Disorder,[Morphological anomaly],Congenital esophageal diverticulum,[Congenital esophageal pouch],"A rare, non-syndromic, congenital esophageal malformation characterized by a false diverticulum, most often located in the upper, posterior esophagus (pharyngo-esophageal) but may occur anywhere along the esophagus (mid-thoracic or epiphrenic). Many patients are asymptomatic, but bad breath, chronic cough, respiratory distress, food regurgitation, dysphagia, chest pain or discomfort, and aspiration pneumonia are typical presenting manifestations.",,,,,,,,, +GARD:19166,Active,Orphanet,ORPHA:91359,Disorder,[Disease],Chronic pneumonitis of infancy,[CPI],"Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD, see this term).",,,,,,,,, +GARD:19167,Active,Orphanet,ORPHA:91364,Disorder,[Disease],Non-specific interstitial pneumonia,"[NSIP, Non-specific idiopathic interstitial pneumonia]","A rare idiopathic interstitial pneumonia characterized by temporally uniform alveolar and interstitial mononuclear cell inflammation (cellular type) and/or fibrosis of the alveolar walls (fibrotic type) with preserved alveolar architecture. Other types of interstitial lung disease must be excluded. Symptoms are non-specific and include dyspnea, cough, and often constitutional symptoms such as fever and fatigue. Pulmonary function test reveals a restrictive pattern. Computed tomography shows predominantly lower lobe subpleural reticular changes, traction bronchiectasis, and ground-glass opacities. The cellular type of the disease is less common but carries a better prognosis.",,,,,,,,, +GARD:19168,Active,Orphanet,ORPHA:91397,Disorder,[Morphological anomaly],Isolated ankyloblepharon filiforme adnatum,,"Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.",,,,,,,,, +GARD:19169,Active,Orphanet,ORPHA:91491,Disorder,[Malformation syndrome],Congenital ectropion uveae,,"Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.",,,,,,,,, +GARD:1917,Active,Orphanet,ORPHA:1656,Disorder,[Disease],Dermatitis herpetiformis,[Duhring-Brocq disease],"A chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. It may also appear as a consequence of gluten intolerance.",[601230],,,,,Dermatitis herpetiformis ,TRUE,FALSE,Active +GARD:19170,Active,Orphanet,ORPHA:91546,Disorder,[Disease],Lyme disease,[Lyme borreliosis],Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.,,,,,,,,, +GARD:19171,Active,Orphanet,ORPHA:91547,Disorder,[Disease],Relapsing fever,,"Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease (see this term) belonging to the Borrelia burgdorferi complex.",,,,,,,,, +GARD:19172,Active,Orphanet,ORPHA:93101,Disorder,[Morphological anomaly],Renal hypoplasia,,A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient's age) with normal corticomedullary differentiation and reduced number of nephrons.,,,,,,,,, +GARD:19173,Active,Orphanet,ORPHA:93108,Disorder,[Morphological anomaly],Renal dysplasia,[Kidney dysplasia],"A rare renal malformation in which the kidney(s) are present but their development is abnormal, leading to malformation of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity.",,,,,,,,, +GARD:19174,Active,Orphanet,ORPHA:93109,Disorder,[Morphological anomaly],Congenital megacalycosis,,"Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.",,,,,,,,, +GARD:19175,Active,Orphanet,ORPHA:93126,Disorder,[Disease],Pauci-immune glomerulonephritis,,"A rare small vessel vasculitis associated with rapidly progressive glomerulonephritis (GN) and clinically characterized by renal manifestations such as urinary abnormalities (hematuria and/or proteinuria) and hypertension leading to renal failure within days or weeks, and distinguished by the absence of immune deposits on immunofluorescent microscopy. The disease can occur as a renal-limited disease or as a component of systemic necrotizing small-vessel vasculitis.",,,,,,,,, +GARD:19176,Active,Orphanet,ORPHA:93164,Disorder,[Disease],Transient pseudohypoaldosteronism,"[Secondary pseudohypoaldosteronism, TPHA]","A rare renal tubulopathy secondary to urinary tract infection (UTI) and/or urinary tract malformation (UTM) characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis, hyperkalemia and inappropriately high serum aldosterone concentration and clinically manifesting as dehydration, vomiting, and poor oral intake.",,,,,,,,, +GARD:19177,Active,Orphanet,ORPHA:93172,Subtype of disorder,[Clinical subtype],"Renal dysplasia, unilateral","[Kidney dysplasia, unilateral]","A form of renal dysplasia (RD) characterized by abnormal or incomplete development of one kidney. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the contralateral kidney is functional. Even in cases of severe unilateral RD, i.e. renal aplasia, the risk of renal failure in childhood is minimal; however, patients may develop hypertension, proteinuria and renal failure as adults.",,,,,,,,, +GARD:19178,Active,Orphanet,ORPHA:93173,Subtype of disorder,[Clinical subtype],"Renal dysplasia, bilateral","[Kidney dysplasia, bilateral]","A form of renal dysplasia (RD), a renal tract malformation, characterized by abnormal or incomplete development of both kidneys. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the residual kidney function is sufficient. In cases of severe bilateral RD, the risk of renal failure in childhood is high.",,,,,,,,, +GARD:19179,Active,Orphanet,ORPHA:93176,Subtype of disorder,[Clinical subtype],Unilateral congenital megacalycosis,,,,,,,,,,, +GARD:1918,Legacy,GARD,,,,,,,,,,,,Duker Weiss Siber syndrome,TRUE,FALSE,Active +GARD:19180,Active,Orphanet,ORPHA:93177,Subtype of disorder,[Clinical subtype],Congenital bilateral megacalycosis,,,,,,,,,,, +GARD:19181,Active,Orphanet,ORPHA:93277,Subtype of disorder,[Clinical subtype],Monostotic fibrous dysplasia,[Jaffe-Lichtenstein disease],,,,,,,,,, +GARD:19182,Active,Orphanet,ORPHA:93320,Disorder,[Morphological anomaly],Ulnar hemimelia,"[Congenital longitudinal deficiency of the ulna, Ulnar clubhand, Ulnar longitudinal meromelia]",A rare congenital limb malformation characterized by complete or partial absence of the ulna.,,,,,,,,, +GARD:19183,Active,Orphanet,ORPHA:93399,Subtype of disorder,[Clinical subtype],Juvenile sialidosis type 2,,,,,,,,,,, +GARD:19184,Active,Orphanet,ORPHA:93400,Subtype of disorder,[Clinical subtype],Congenital sialidosis type 2,,,,,,,,,,, +GARD:19185,Active,Orphanet,ORPHA:93420,Group of disorders,[Category],FGFR3-related chondrodysplasia,,,,,,,,,,, +GARD:19186,Active,Orphanet,ORPHA:93421,Group of disorders,[Category],Type 2 collagen-related bone disorder,,,,,,,,,,, +GARD:19187,Active,Orphanet,ORPHA:93422,Group of disorders,[Category],Type 11 collagen-related bone disorder,,,,,,,,,,, +GARD:19188,Active,Orphanet,ORPHA:93423,Group of disorders,[Category],Sulfation-related bone disorder,,,,,,,,,,, +GARD:19189,Active,Orphanet,ORPHA:93424,Group of disorders,[Category],Perlecan-related bone disorder,,,,,,,,,,, +GARD:1919,Legacy,GARD,,,,,,,,,,,,Duodenal atresia tetralogy of Fallot,TRUE,FALSE,Active +GARD:19190,Active,Orphanet,ORPHA:93425,Group of disorders,[Category],Filamin-related bone disorder,[Bone filaminopathy],,,,,,,,,, +GARD:19191,Active,Orphanet,ORPHA:93429,Group of disorders,[Category],Multiple epiphyseal dysplasia and pseudoachondroplasia,,,,,,,,,,, +GARD:19192,Active,Orphanet,ORPHA:93430,Group of disorders,[Clinical group],Multiple metaphyseal dysplasia,,,,,,,,,,, +GARD:19193,Active,Orphanet,ORPHA:93434,Group of disorders,[Clinical group],Spondylodysplastic dysplasia,,,,,,,,,,, +GARD:19194,Active,Orphanet,ORPHA:93436,Group of disorders,[Clinical group],Acromelic dysplasia,,,,,,,,,,, +GARD:19195,Active,Orphanet,ORPHA:93438,Group of disorders,[Clinical group],Mesomelic and rhizo-mesomelic dysplasia,,,,,,,,,,, +GARD:19196,Active,Orphanet,ORPHA:93439,Group of disorders,[Clinical group],Campomelic dysplasia and related disorders,[Bent bone dysplasia],,,,,,,,,, +GARD:19197,Active,Orphanet,ORPHA:93440,Group of disorders,[Clinical group],Slender bone dysplasia,,,,,,,,,,, +GARD:19198,Active,Orphanet,ORPHA:93441,Group of disorders,[Clinical group],Primary bone dysplasia with multiple joint dislocations,"[Primary osteodysplasia with multiple joint dislocations, Primary skeletal dysplasia with multiple joint dislocations]",,,,,,,,,, +GARD:19199,Active,Orphanet,ORPHA:93443,Group of disorders,[Clinical group],Neonatal osteosclerotic dysplasia,,,,,,,,,,, +GARD:192,Active,Orphanet,ORPHA:1381,Disorder,[Malformation syndrome],Cataract-intellectual disability-anal atresia-urinary defects syndrome,[Karandikar-Maria-Kamble syndrome],"Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.",,,,,,Karandikar Maria Kamble syndrome,TRUE,FALSE,Active +GARD:19200,Active,Orphanet,ORPHA:93444,Group of disorders,[Category],Primary bone dysplasia with increased bone density,"[Primary osteodysplasia with increased bone density, Primary skeletal dysplasia with increased bone density, Sclerosing bone dysplasia]",,,,,,,,,, +GARD:19201,Active,Orphanet,ORPHA:93446,Group of disorders,[Category],Primary bone dysplasia with decreased bone density,"[Primary osteodysplasia with decreased bone density, Primary skeletal dysplasia with decreased bone density]",,,,,,,,,, +GARD:19202,Active,Orphanet,ORPHA:93447,Group of disorders,[Category],Primary bone dysplasia with defective bone mineralization,"[Primary osteodysplasia with defective bone mineralization, Primary skeletal dysplasia with defective bone mineralization]",,,,,,,,,, +GARD:19203,Active,Orphanet,ORPHA:93448,Group of disorders,[Category],Lysosomal storage disease with skeletal involvement,[Dysostosis multiplex],,,,,,,,,, +GARD:19204,Active,Orphanet,ORPHA:93449,Group of disorders,[Category],Primary osteolysis,,,,,,,,,,, +GARD:19205,Active,Orphanet,ORPHA:93450,Group of disorders,[Category],Primary bone dysplasia with disorganized development of skeletal components,"[Primary osteodysplasia with disorganized development of skeletal components, Primary skeletal dysplasia with disorganized development of skeletal components]",,,,,,,,,, +GARD:19206,Active,Orphanet,ORPHA:93451,Group of disorders,[Category],Cleidocranial dysplasia and isolated cranial ossification defect,,,,,,,,,,, +GARD:19207,Active,Orphanet,ORPHA:93453,Group of disorders,[Category],Dysostosis with predominant craniofacial involvement,,,,,,,,,,, +GARD:19208,Active,Orphanet,ORPHA:93454,Group of disorders,[Category],Dysostosis with predominant vertebral and costal involvement,,,,,,,,,,, +GARD:19209,Active,Orphanet,ORPHA:93455,Group of disorders,[Category],Patellar dysostosis,,,,,,,,,,, +GARD:19210,Active,Orphanet,ORPHA:93457,Group of disorders,[Category],Non-syndromic limb reduction defect,[Non-syndromic limb hypoplasia],,,,,,,,,, +GARD:19211,Active,Orphanet,ORPHA:93458,Group of disorders,[Category],"Non-syndromic polydactyly, syndactyly and/or hyperphalangy",,,,,,,,,,, +GARD:19212,Active,Orphanet,ORPHA:93459,Group of disorders,[Category],Syndrome with synostosis or other joint formation defect,,,,,,,,,,, +GARD:19213,Active,Orphanet,ORPHA:93460,Group of disorders,[Category],Overgrowth syndrome,,,,,,,,,,, +GARD:19214,Active,Orphanet,ORPHA:93461,Group of disorders,[Category],Chromosomal disease with overgrowth,,,,,,,,,,, +GARD:19215,Active,Orphanet,ORPHA:93465,Group of disorders,[Category],Lethal chondrodysplasia,,,,,,,,,,, +GARD:19216,Active,Orphanet,ORPHA:93545,Group of disorders,[Category],Renal or urinary tract malformation,"[CAKUT, Congenital anomalies of kidney and urinary tract]",,,,,,,,,, +GARD:19217,Active,Orphanet,ORPHA:93546,Group of disorders,[Category],Non-syndromic renal or urinary tract malformation,,,,,,,,,,, +GARD:19218,Active,Orphanet,ORPHA:93547,Group of disorders,[Category],Syndromic renal or urinary tract malformation,,,,,,,,,,, +GARD:19219,Active,Orphanet,ORPHA:93552,Disorder,[Disease],Pediatric systemic lupus erythematosus,"[SLE, pediatric onset]","A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system).",,,,,,,,, +GARD:19220,Active,Orphanet,ORPHA:93554,Subtype of disorder,[Etiological subtype],Mixed cryoglobulinemia type II,[MC type II],"A clinico-serological subtype of mixed cryoglobulinemia syndrome, an immune complex disorder, characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).",,,,,,,,, +GARD:19221,Active,Orphanet,ORPHA:93555,Subtype of disorder,[Etiological subtype],Mixed cryoglobulinemia type III,[MC type III],"A clinico-serological subtype of mixed cryoglobulinemia syndrome, is an immune complex disorder, characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.",,,,,,,,, +GARD:19222,Active,Orphanet,ORPHA:93556,Subtype of disorder,[Clinical subtype],Heavy chain deposition disease,[HCDD],"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia.",,,,,,,,, +GARD:19223,Active,Orphanet,ORPHA:93557,Subtype of disorder,[Clinical subtype],Light and heavy chain deposition disease,[LHCDD],"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by secretion of abnormal light and heavy chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition most frequently occurs in association with multiple myeloma. The kidneys are most commonly affected (clinically manifesting as nephrotic syndrome and renal failure), but liver, heart, peripheral nerves, blood vessels, and joints may also be involved.",,,,,,,,, +GARD:19224,Active,Orphanet,ORPHA:93560,Subtype of disorder,[Clinical subtype],AApoAI amyloidosis,"[Apolipoprotein A-I amyloidosis, Familial amyloid nephropathy due to apolipoprotein A-I variant, Familial renal amyloidosis due to apolipoprotein A-I variant, Hereditary amyloid nephropathy due to apolipoprotein A-I variant, Hereditary renal amyloidosis due to apolipoprotein A-I variant]","A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported.",,,,,,,,, +GARD:19225,Active,Orphanet,ORPHA:93561,Subtype of disorder,[Clinical subtype],ALys amyloidosis,"[Familial amyloid nephropathy due to lysozyme variant, Familial renal amyloidosis due to lysozyme variant, Hereditary amyloid nephropathy due to lysozyme variant, Hereditary renal amyloidosis due to lysozyme variant, Lysozyme amyloidosis]","A rare, hereditary amyloidosis with primary renal involvement characterized by amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction.",,,,,,,,, +GARD:19226,Active,Orphanet,ORPHA:93562,Subtype of disorder,[Clinical subtype],AFib amyloidosis,"[Familial amyloid nephropathy due to fibrinogen A alpha-chain variant, Fibrinogen A alpha-chain amyloidosis, Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant, Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant]","A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition.",,,,,,,,, +GARD:19227,Active,Orphanet,ORPHA:93573,Group of disorders,[Clinical group],Thrombotic microangiopathy,[TMA],,,,,,,,,, +GARD:19228,Active,Orphanet,ORPHA:93587,Group of disorders,[Category],Genetic cystic renal disease,[Hereditary cystic renal disease],,,,,,,,,, +GARD:19229,Active,Orphanet,ORPHA:93593,Group of disorders,[Category],Nephropathy secondary to a storage or other metabolic disease,,,,,,,,,,, +GARD:1923,Legacy,GARD,,,,,,,,,,,,Chromosome 11q duplication,TRUE,FALSE,Active +GARD:19230,Active,Orphanet,ORPHA:93603,Group of disorders,[Category],Rare renal tubular disease,,,,,,,,,,, +GARD:19231,Active,Orphanet,ORPHA:93614,Group of disorders,[Category],Hematological disorder with renal involvement,,,,,,,,,,, +GARD:19232,Active,Orphanet,ORPHA:93618,Group of disorders,[Category],Rare cause of hypertension,,,,,,,,,,, +GARD:19233,Active,Orphanet,ORPHA:93619,Group of disorders,[Category],Rare renal tumor,,,,,,,,,,, +GARD:19234,Active,Orphanet,ORPHA:93665,Group of disorders,[Category],Autoinflammatory syndrome,,,,,,,,,,, +GARD:19235,Active,Orphanet,ORPHA:93928,Subtype of disorder,[Clinical subtype],Isolated epispadias,,A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.,,,,,,,,, +GARD:19236,Active,Orphanet,ORPHA:93938,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 1,"[LTEC I, LTEC1, Laryngo-tracheo-esophageal cleft type 1]","A congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.",,,,,,,,, +GARD:19237,Active,Orphanet,ORPHA:93939,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 2,"[LTEC II, LTEC2, Laryngo-tracheo-esophageal cleft type 2]","A congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.",,,,,,,,, +GARD:19238,Active,Orphanet,ORPHA:93941,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 4,"[LTEC IV, LTEC4, Laryngo-tracheo-esophageal cleft type 4]","A serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.",,,,,,,,, +GARD:19239,Active,Orphanet,ORPHA:93945,Subtype of disorder,[Clinical subtype],"X-linked intellectual disability, Porteous type",,,,,,,,,,, +GARD:19240,Active,Orphanet,ORPHA:93946,Subtype of disorder,[Clinical subtype],Hamel cerebro-palato-cardiac syndrome,,"An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.",,,,,,,,, +GARD:19241,Active,Orphanet,ORPHA:93947,Subtype of disorder,[Clinical subtype],"X-linked intellectual disability, Golabi-Ito-Hall type",,"An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.",,,,,,,,, +GARD:19242,Active,Orphanet,ORPHA:93950,Subtype of disorder,[Clinical subtype],"X-linked intellectual disability, Sutherland-Haan type",,,,,,,,,,, +GARD:19243,Active,Orphanet,ORPHA:93958,Disorder,[Disease],Oromandibular dystonia,,"A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.",,,,,,,,, +GARD:19244,Active,Orphanet,ORPHA:94056,Disorder,[Morphological anomaly],Humero-ulnar synostosis,[Humero-ulnar fusion],"A rare joint formation defect characterized by a bony connection between the humerus and the ulna, resulting in fixed flexion of the forearm, usually near 90°. The condition may be associated with upper limb hypoplasia. It may be sporadic or familial and occur uni- or bilaterally.",,,,,,,,, +GARD:19245,Active,Orphanet,ORPHA:94058,Disorder,[Particular clinical situation in a disease or syndrome],Neovascular glaucoma,,"Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.",,,,,,,,, +GARD:19246,Active,Orphanet,ORPHA:94059,Disorder,[Particular clinical situation in a disease or syndrome],Uremic pruritus,,,,,,,,,,, +GARD:19247,Active,Orphanet,ORPHA:94066,Disorder,[Malformation syndrome],Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia,,"Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.",,,,,,,,, +GARD:19248,Active,Orphanet,ORPHA:94080,Disorder,[Disease],Non-functioning paraganglioma,[Non-secreting paraganglioma],"A rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome, may be observed.",,,,,,,,, +GARD:19249,Active,Orphanet,ORPHA:94087,Disorder,[Disease],Cytophagic histiocytic panniculitis,"[CHP, Winkelmann cytophagic panniculitis]","Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.",,,,,,,,, +GARD:19250,Active,Orphanet,ORPHA:94091,Disorder,[Disease],Mills syndrome,,"A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemiplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and controversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.",,,,,,,,, +GARD:19251,Active,Orphanet,ORPHA:94125,Disorder,[Disease],Recessive mitochondrial ataxia syndrome,[MIRAS],"Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.",,,,,,,,, +GARD:19252,Active,Orphanet,ORPHA:94145,Group of disorders,[Clinical group],Autosomal dominant cerebellar ataxia type I,"[ADCA1, ADCAI, Autosomal dominant cerebellar ataxia type 1, Cerebellar plus syndrome]","A group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.",,,,,,,,, +GARD:19253,Active,Orphanet,ORPHA:94148,Group of disorders,[Clinical group],Autosomal dominant cerebellar ataxia type III,"[ADCA3, ADCAIII, Autosomal dominant cerebellar ataxia type 3, Pure cerebellar syndrome-mild pyramidal signs syndrome]","A group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.",,,,,,,,, +GARD:19254,Active,Orphanet,ORPHA:94149,Group of disorders,[Clinical group],Autosomal dominant cerebellar ataxia type IV,"[ADCA4, ADCAIV, Autosomal dominant cerebellar ataxia type 4]",,,,,,,,,, +GARD:19255,Active,Orphanet,ORPHA:95157,Group of disorders,[Clinical group],Acute hepatic porphyria,,"A rare sub-group of porphyrias characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare).",,,,,,,,, +GARD:19256,Active,Orphanet,ORPHA:95161,Group of disorders,[Clinical group],Chronic hepatic porphyria,,Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms).,,,,,,,,, +GARD:19257,Active,Orphanet,ORPHA:95409,Disorder,[Clinical syndrome],Acute adrenal insufficiency,"[Acute adrenal failure, Acute adrenocortical insufficiency, Addisonian crisis, Adrenal crisis, Adrenocortical crisis]","A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.",,,,,,,,, +GARD:19258,Active,Orphanet,ORPHA:95427,Disorder,[Disease],Secondary short bowel syndrome,,"Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.",,,,,,,,, +GARD:19259,Active,Orphanet,ORPHA:95443,Disorder,[Morphological anomaly],Mesocardia,[Midline heart],"A rare, congenital non-syndromic heart malformation characterized by an atypical location of the heart in a central position in the thorax, with the apex in the midline of the thorax. Atria are usually situs solitus, whereas ventricles may be situs inversus. Various congenital heart anomalies and visceral situs inversus have also been associated.",,,,,,,,, +GARD:1926,Legacy,GARD,,,,,,,,,,,,Chromosome 12q duplication,TRUE,FALSE,Active +GARD:19260,Active,Orphanet,ORPHA:95448,Subtype of disorder,[Clinical subtype],Congenital aortic valve atresia,,,,,,,,,,, +GARD:19261,Active,Orphanet,ORPHA:95457,Disorder,[Morphological anomaly],Tricuspid valve agenesis,[Congenital unguarded tricuspid orifice],"A rare, congenital, non-syndromic heart malformation characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice. It can be isolated or associated with other heart anomalies. Clinical presentation is variable and may include syncope, arrhythmias, cyanosis, right heart dilatation and failure.",,,,,,,,, +GARD:19262,Active,Orphanet,ORPHA:95459,Disorder,[Morphological anomaly],Congenital tricuspid stenosis,,"A rare congenital tricuspid malformation characterized by narrowing of the tricuspid valve orifice due to congenital valve anomalies, such as incompletely developed leaflets, shortened and malformed chordae tendineae, small annulus, and/or abnormal number and size of papillary muscles, resulting in right ventricular inflow obstruction. Clinical presentation depends on the degree of stenosis, as well as the presence or absence of additional cardiac anomalies, and includes easy fatigability, swelling of the lower limbs, and hepatomegaly, among others.",,,,,,,,, +GARD:19263,Active,Orphanet,ORPHA:95461,Disorder,[Morphological anomaly],Straddling or overriding tricuspid valve,,"Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.",,,,,,,,, +GARD:19264,Active,Orphanet,ORPHA:95462,Disorder,[Morphological anomaly],Accessory tricuspid valve tissue,,"A rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.",,,,,,,,, +GARD:19265,Active,Orphanet,ORPHA:95463,Group of disorders,[Category],Anomaly of the tricuspid subvalvular apparatus,,"A group of rare congenital tricuspid malformations characterized by anomalies of the chordae tendineae and papillary muscles, including aberrant chordae tendineae, straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired right ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.",,,,,,,,, +GARD:19266,Active,Orphanet,ORPHA:95464,Group of disorders,[Category],Congenital mitral valve insufficiency and/or stenosis,,,,,,,,,,, +GARD:19267,Active,Orphanet,ORPHA:95465,Disorder,[Morphological anomaly],Cleft mitral valve,,"A rare, congenital, non-syndromic heart malformation characterized by a slit-like hole or defect in one of the mitral valve leaflets, which is usually thickened and distorted. It usually affects the anterior leaflet, but the cleft of posterior leaflet has also been described. Cleft mitral valve can be isolated or associated with other congenital heart anomalies.",,,,,,,,, +GARD:19268,Active,Orphanet,ORPHA:95474,Subtype of disorder,[Clinical subtype],Double-orifice mitral valve,,"A rare, congenital, non-syndromic heart malformation characterized by a single fibrous annulus with two orifices opening into the left ventricle. Clinical presentation is variable and related to the degree of resulting mitral insufficiency and/or stenosis, and depending on the associated heart disease, most commonly atrioventricular septal defect, obstructive left-sided lesions, and cyanotic heart disease. Rare cases of isolated disease have been reported.",,,,,,,,, +GARD:19269,Active,Orphanet,ORPHA:95483,Group of disorders,[Category],Univentricular cardiopathy,,,,,,,,,,, +GARD:19270,Active,Orphanet,ORPHA:95485,Group of disorders,[Category],Arterial duct anomaly,[Patent ductus arteriosus anomalies],,,,,,,,,, +GARD:19271,Active,Orphanet,ORPHA:95486,Disorder,[Morphological anomaly],Premature closure of the arterial duct,[Premature closure of the patent ductus arteriosus],"Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.",,,,,,,,, +GARD:19272,Active,Orphanet,ORPHA:95488,Group of disorders,[Category],Non-acquired pituitary hormone deficiency,,,,,,,,,,, +GARD:19273,Active,Orphanet,ORPHA:95491,Disorder,[Morphological anomaly],Congenital coronary artery aneurysm,[Congenital coronary aneurysm],"Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.",,,,,,,,, +GARD:19274,Active,Orphanet,ORPHA:95495,Group of disorders,[Category],Disease associated with non-acquired combined pituitary hormone deficiency,,,,,,,,,,, +GARD:19275,Active,Orphanet,ORPHA:95498,Group of disorders,[Category],Congenital anomaly of superior vena cava,"[Congenital anomaly of superior caval vein, Congenital anomaly of the SVC]",,,,,,,,,, +GARD:19276,Active,Orphanet,ORPHA:95499,Group of disorders,[Category],Congenital anomaly of the inferior vena cava,"[Congenital anomaly of the IVC, Congenital anomaly of the inferior caval vein]",,,,,,,,,, +GARD:19277,Active,Orphanet,ORPHA:95500,Group of disorders,[Category],Congenital anomaly of the coronary sinus,,,,,,,,,,, +GARD:19278,Active,Orphanet,ORPHA:95502,Group of disorders,[Category],Acquired pituitary hormone deficiency,,,,,,,,,,, +GARD:19279,Active,Orphanet,ORPHA:95503,Group of disorders,[Category],Pituitary hormone deficiency of tumoral origin,,,,,,,,,,, +GARD:19280,Active,Orphanet,ORPHA:95505,Group of disorders,[Category],Pituitary hormone deficiency of meningeal origin,,,,,,,,,,, +GARD:19281,Active,Orphanet,ORPHA:95506,Group of disorders,[Clinical group],Primary hypophysitis,[Autoimmune hypophysitis],,,,,,,,,, +GARD:19282,Active,Orphanet,ORPHA:95507,Disorder,[Morphological anomaly],Congenital anomaly of hepatic vein,,,,,,,,,,, +GARD:19283,Active,Orphanet,ORPHA:95510,Group of disorders,[Category],Atrial appendage anomaly,[Atrial auricle anomaly],,,,,,,,,, +GARD:19284,Active,Orphanet,ORPHA:95512,Disorder,[Disease],Adenohypophysitis,[Anterior pituitary hypophysitis],"A rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.",,,,,,,,, +GARD:19285,Active,Orphanet,ORPHA:95513,Disorder,[Disease],Panhypophysitis,[Infundibulo-panhypophysitis],"Panhypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.",,,,,,,,, +GARD:19286,Active,Orphanet,ORPHA:95611,Group of disorders,[Category],Pituitary hormone deficiency of vascular origin,,,,,,,,,,, +GARD:19287,Active,Orphanet,ORPHA:95613,Disorder,[Disease],Pituitary apoplexy,[Pituitary tumor apoplexy],"A rare pituitary disease characterized by hemorrhagic or non-hemorrhagic necrosis of the pituitary gland. Clinical manifestations typically comprise sudden and severe headache (often with nausea and vomiting), visual disturbances (visual-field defects, loss of visual acuity), oculomotor palsies, and variable degrees of altered consciousness, ranging from lethargy to coma. Acute endocrine dysfunction may also be present, most commonly corticotropic deficiency with severe hypotension and hyponatremia as well as secondary adrenal failure, but also thyrotropic and gonadotropic deficiency.",,,,,,,,, +GARD:19288,Active,Orphanet,ORPHA:95617,Group of disorders,[Category],Pituitary hormone deficiency secondary to a granulomatous disease,,,,,,,,,,, +GARD:19289,Active,Orphanet,ORPHA:95618,Group of disorders,[Category],Pituitary hormone deficiency secondary to storage disease,,,,,,,,,,, +GARD:1929,Legacy,GARD,,,,,,,,,,,,Chromosome 13q duplication,TRUE,FALSE,Active +GARD:19290,Active,Orphanet,ORPHA:95619,Disorder,[Disease],Post-traumatic pituitary deficiency,,"A rare, acquired, endocrine disorder characterized by deficiency of one or more of the pituitary hormones resulting as a consequence of traumatic or medically-induced injury of the pituitary gland. Clinical presentation is variable depending on the nature and acuity of the injury and the resulting order and amount of hormone deficiency.",,,,,,,,, +GARD:19291,Active,Orphanet,ORPHA:95626,Subtype of disorder,[Clinical subtype],Acquired central diabetes insipidus,"[Acquired CDI, Acquired neurogenic diabetes insipidus]","A subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.",,,,,,,,, +GARD:19292,Active,Orphanet,ORPHA:95707,Disorder,[Morphological anomaly],Idiopathic isolated micropenis,,"A rare, non-syndromic, urogenital tract malformation characterized by an anatomically normal penis which has a stretched penile length of less than 2.5 SD for age, in the absence of any other abnormalities and with no known cause.",,,,,,,,, +GARD:19293,Active,Orphanet,ORPHA:95709,Group of disorders,[Category],Acquired premature ovarian failure,,,,,,,,,,, +GARD:19294,Active,Orphanet,ORPHA:95710,Group of disorders,[Category],Non-acquired premature ovarian failure,,,,,,,,,,, +GARD:19295,Active,Orphanet,ORPHA:95711,Group of disorders,[Category],Congenital hypothyroidism due to developmental anomaly,[Primary congenital hypothyroidism due to developmental anomaly],"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.",,,,,,,,, +GARD:19296,Active,Orphanet,ORPHA:95714,Group of disorders,[Category],Primary congenital hypothyroidism without thyroid developmental anomaly,,Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal.,,,,,,,,, +GARD:19297,Active,Orphanet,ORPHA:95715,Disorder,[Disease],Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies,,"Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism (see this term), a thyroid hormone deficiency that is not permanent.",,,,,,,,, +GARD:19298,Active,Orphanet,ORPHA:95717,Disorder,[Disease],Idiopathic congenital hypothyroidism,,Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown.,,,,,,,,, +GARD:19299,Active,Orphanet,ORPHA:95718,Group of disorders,[Category],Congenital thyroid malformation without hypothyroidism,,,,,,,,,,, +GARD:193,Active,Orphanet,ORPHA:2745,Disorder,[Malformation syndrome],Opitz GBBB syndrome,"[Hypertelorism-hypospadias syndrome, Hypertelorism-oesophageal abnormality-hypospadias syndrome, Hypospadias-dysphagia syndrome, Opitz BBB/G syndrome, Opitz BBBG syndrome, Opitz G/BBB syndrome, Opitz-Frias syndrome]","A rare X-linked congenital midline malformation syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias.",[300000],,,,,Opitz G/BBB syndrome,TRUE,FALSE,Active +GARD:19300,Active,Orphanet,ORPHA:96059,Disorder,[Malformation syndrome],Mosaic trisomy 4,"[Mosaic trisomy chromosome 4, Trisomy 4 mosaicism]","Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.",,,,,,,,, +GARD:19301,Active,Orphanet,ORPHA:96060,Disorder,[Malformation syndrome],Mosaic trisomy 5,"[Mosaic trisomy chromosome 5, Trisomy 5 mosaicism]","Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.",,,,,,,,, +GARD:19302,Active,Orphanet,ORPHA:96063,Disorder,[Malformation syndrome],Mosaic trisomy 10,"[Mosaic trisomy chromosome 10, Trisomy 10 mosaicism]","Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.",,,,,,,,, +GARD:19303,Active,Orphanet,ORPHA:96069,Disorder,[Malformation syndrome],Distal trisomy 1p36,"[Distal duplication 1p36, Telomeric duplication 1p36, Trisomy 1pter]","Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.",,,,,,,,, +GARD:19304,Active,Orphanet,ORPHA:96070,Disorder,[Malformation syndrome],Distal trisomy 2p,"[Distal duplication 2p, Telomeric duplication 2p, Trisomy 2pter]","Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.",,,,,,,,, +GARD:19305,Active,Orphanet,ORPHA:96071,Disorder,[Malformation syndrome],Distal trisomy 3p,"[Distal duplication 3p, Telomeric duplication 3p, Trisomy 3pter]","Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.",,,,,,,,, +GARD:19306,Active,Orphanet,ORPHA:96072,Disorder,[Malformation syndrome],4p16.3 microduplication syndrome,"[Distal duplication 4p, Distal trisomy 4p, Telomeric duplication 4p, Trisomy 4pter]","4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.",,,,,,,,, +GARD:19307,Active,Orphanet,ORPHA:96074,Disorder,[Malformation syndrome],Distal trisomy 7p,"[Distal duplication 7p, Telomeric duplication 7p, Trisomy 7pter]","Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.",,,,,,,,, +GARD:19308,Active,Orphanet,ORPHA:96076,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to 11p15 microduplication,,,,,,,,,,, +GARD:19309,Active,Orphanet,ORPHA:96092,Disorder,[Malformation syndrome],8p inverted duplication/deletion syndrome,"[Invdupdel(8p), Inverted 8p duplication/deletion syndrome]","A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%).",,,,,,,,, +GARD:19310,Active,Orphanet,ORPHA:96094,Disorder,[Malformation syndrome],Distal trisomy 2q,"[Distal duplication 2q, Telomeric duplication 2q, Trisomy 2qter]","Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.",,,,,,,,, +GARD:19311,Active,Orphanet,ORPHA:96095,Disorder,[Malformation syndrome],3q26 microduplication syndrome,"[Dup(3)(q26), Dup(3q) syndrome, Trisomy 3q26]","3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.",,,,,,,,, +GARD:19312,Active,Orphanet,ORPHA:96096,Disorder,[Malformation syndrome],Distal trisomy 4q,"[Distal duplication 4q, Telomeric duplication 4q, Trisomy 4qter]","Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.",,,,,,,,, +GARD:19313,Active,Orphanet,ORPHA:96097,Disorder,[Malformation syndrome],Distal trisomy 5q,"[Distal duplication 5q, Telomeric duplication 5q, Trisomy 5qter]","Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).",,,,,,,,, +GARD:19314,Active,Orphanet,ORPHA:96098,Disorder,[Malformation syndrome],Distal trisomy 6q,"[Distal duplication 6q, Telomeric duplication 6q, Trisomy 6qter]","Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.",,,,,,,,, +GARD:19315,Active,Orphanet,ORPHA:96100,Disorder,[Malformation syndrome],Distal trisomy 8q,"[Distal duplication 8q, Telomeric duplication 8q, Trisomy 8qter]","Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).",,,,,,,,, +GARD:19316,Active,Orphanet,ORPHA:96101,Disorder,[Malformation syndrome],Distal trisomy 9q,"[Distal duplication 9q, Telomeric duplication 9q, Trisomy 9qter]","Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.",,,,,,,,, +GARD:19317,Active,Orphanet,ORPHA:96102,Disorder,[Malformation syndrome],Distal trisomy 10q,"[Distal duplication 10q, Telomeric duplication 10q, Trisomy 10qter]","Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.",,,,,,,,, +GARD:19318,Active,Orphanet,ORPHA:96103,Disorder,[Malformation syndrome],Distal trisomy 11q,"[Distal duplication 11q, Telomeric duplication 11q, Trisomy 11qter]","Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.",,,,,,,,, +GARD:19319,Active,Orphanet,ORPHA:96105,Disorder,[Malformation syndrome],Distal trisomy 13q,"[Distal duplication 13q, Telomeric duplication 13q, Trisomy 13qter]","Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.",,,,,,,,, +GARD:19320,Active,Orphanet,ORPHA:96106,Disorder,[Malformation syndrome],Distal trisomy 16q,"[Distal duplication 16q, Telomeric duplication 16q, Trisomy 16qter]","Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.",,,,,,,,, +GARD:19321,Active,Orphanet,ORPHA:96107,Disorder,[Malformation syndrome],Distal trisomy 20q,"[Distal duplication 20q, Telomeric duplication 20q, Trisomy 20qter]","Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.",,,,,,,,, +GARD:19322,Active,Orphanet,ORPHA:96109,Disorder,[Malformation syndrome],Distal trisomy 22q,"[Distal duplication 22q, Telomeric duplication 22q, Trisomy 22qter]","Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.",,,,,,,,, +GARD:19323,Active,Orphanet,ORPHA:96112,Disorder,[Malformation syndrome],Non-distal trisomy 9q,"[Non-distal duplication 9q, Non-telomeric trisomy 9q]","Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.",,,,,,,,, +GARD:19324,Active,Orphanet,ORPHA:96123,Disorder,[Malformation syndrome],Monosomy 22,"[Del(22), Deletion 22]","A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.",,,,,,,,, +GARD:19325,Active,Orphanet,ORPHA:96126,Disorder,[Malformation syndrome],Distal monosomy 7p,"[Distal deletion 7p, Monosomy 7pter, Telomeric deletion 7p]","Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.",,,,,,,,, +GARD:19326,Active,Orphanet,ORPHA:96129,Disorder,[Malformation syndrome],Distal monosomy 19p13.3,"[Distal deletion 19p, Telomeric deletion 19p]","Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).",,,,,,,,, +GARD:19327,Active,Orphanet,ORPHA:96145,Disorder,[Malformation syndrome],Distal monosomy 4q,"[Distal deletion 4q, Monosomy 4qter, Telomeric deletion 4q]","Distal monosomy 4q is a partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.",,,,,,,,, +GARD:19328,Active,Orphanet,ORPHA:96149,Disorder,[Malformation syndrome],Distal monosomy 12q,"[Distal deletion 12q, Monosomy 12qter, Telomeric deletion 12q]",,,,,,,,,, +GARD:19329,Active,Orphanet,ORPHA:96150,Disorder,[Malformation syndrome],Distal monosomy 14q,"[Distal deletion 14q, Telomeric deletion 14q]","Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.",,,,,,,,, +GARD:19330,Active,Orphanet,ORPHA:96160,Disorder,[Malformation syndrome],Non-distal monosomy 12q,"[Non-distal deletion 12q, Non-telomeric monosomy 12q]","Non-distal monosomy 12q is a partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.",,,,,,,,, +GARD:19331,Active,Orphanet,ORPHA:96179,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 2,[UPD(2)mat],Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:19332,Active,Orphanet,ORPHA:96180,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 4,[UPD(4)mat],Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:19333,Active,Orphanet,ORPHA:96181,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 6,[UPD(6)mat],Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.,,,,,,,,, +GARD:19334,Active,Orphanet,ORPHA:96182,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7,[UPD(7)mat],"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).",,,,,,,,, +GARD:19335,Active,Orphanet,ORPHA:96183,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 9,[UPD(9)mat],Maternal uniparental disomy of chromosome 9 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:19336,Active,Orphanet,ORPHA:96185,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 16,[UPD(16)mat],"Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.",,,,,,,,, +GARD:19337,Active,Orphanet,ORPHA:96187,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 21,[UPD(21)mat],Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.,,,,,,,,, +GARD:19338,Active,Orphanet,ORPHA:96188,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 22,[UPD(22)mat],Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.,,,,,,,,, +GARD:19339,Active,Orphanet,ORPHA:96190,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 5,[UPD(5)pat],Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.,,,,,,,,, +GARD:19340,Active,Orphanet,ORPHA:96191,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 6,[UPD(6)pat],"Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.",,,,,,,,, +GARD:19341,Active,Orphanet,ORPHA:96192,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 7,[UPD(7)pat],"Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).",,,,,,,,, +GARD:19342,Active,Orphanet,ORPHA:96193,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11,"[Mosaic paternal uniparental disomy of chromosome 11, UPD(11)pat]",,,,,,,,,, +GARD:19343,Active,Orphanet,ORPHA:96194,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 20,"[Paternal UPD(20), UPD(20)pat]","Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b (see this term) testing and have UPD involving variable segments of the long arm of chromosome 20.",,,,,,,,, +GARD:19344,Active,Orphanet,ORPHA:96195,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 21,[UPD(21)pat],Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.,,,,,,,,, +GARD:19345,Active,Orphanet,ORPHA:96201,Disorder,[Malformation syndrome],X small rings,,"X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.",,,,,,,,, +GARD:19346,Active,Orphanet,ORPHA:96210,Group of disorders,[Category],Rare genetic deafness,[Rare genetic hearing loss],,,,,,,,,, +GARD:19347,Active,Orphanet,ORPHA:96269,Disorder,[Morphological anomaly],Isolated partial vaginal agenesis,[Congenital absence of vagina],"A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.",,,,,,,,, +GARD:19348,Active,Orphanet,ORPHA:96321,Group of disorders,[Category],Polyploidy,,,,,,,,,,, +GARD:19349,Active,Orphanet,ORPHA:96325,Group of disorders,[Category],Isochromosome Y,,,,,,,,,,, +GARD:19350,Active,Orphanet,ORPHA:96333,Group of disorders,[Category],Rare otorhinolaryngological malformation,,,,,,,,,,, +GARD:19351,Active,Orphanet,ORPHA:96346,Group of disorders,[Category],Anorectal malformation,[ARM],,,,,,,,,, +GARD:19352,Active,Orphanet,ORPHA:96369,Disorder,[Disease],Early-onset schizophrenia,,"A rare, neurologic disease characterized by an early onset of positive and negative symptoms of psychosis that impact development and cognitive functioning. Clinical manifestation commonly include premorbid features of autism spectrum disorders, attention deficits, neurodevelopmental delays, and behavioral abnormalities. After the onset of psychotic symptoms, other comorbidities are also common, including obsessive-compulsive disorder, major depressive disorder, attention deficit hyperactivity disorder, expressive and receptive language disorders, auditory processing deficits, and executive functioning deficits.",,,,,,,,, +GARD:19353,Active,Orphanet,ORPHA:97230,Disorder,[Disease],Solar urticaria,,"A rare photodermatosis characterized by an abrupt onset of transient erythema, wheals, and pruritus appearing within minutes of exposure to light.",,,,,,,,, +GARD:19354,Active,Orphanet,ORPHA:97240,Disorder,[Disease],Zebra body myopathy,,"Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.",,,,,,,,, +GARD:19355,Active,Orphanet,ORPHA:97252,Disorder,[Morphological anomaly],Mega-cisterna magna,,"A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients.",,,,,,,,, +GARD:19356,Active,Orphanet,ORPHA:97261,Disorder,[Disease],GRFoma,"[GRF tumor, Growth hormone releasing factor tumor]","GRFoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes growth hormone-releasing factor (GRF or GHRH) and that clinically resembles a pituitary adenoma (see this term) as patients present with acromegaly. In addition to the pancreas, this tumor can also occur in the lungs or small intestine, are usually large > 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1; see these terms).",,,,,,,,, +GARD:19357,Active,Orphanet,ORPHA:97275,Group of disorders,[Category],Encephalitis,,,,,,,,,,, +GARD:19358,Active,Orphanet,ORPHA:97278,Disorder,[Disease],PPoma,[Pancreatic polypeptidoma],"PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term).",,,,,,,,, +GARD:19359,Active,Orphanet,ORPHA:97285,Disorder,[Disease],Thyroid lymphoma,,"A rare primary organ-specific lymphoma characterized by primary origin in the thyroid gland, sometimes involving cervical lymph nodes, and infrequently more distant sites. Diffuse large B-cell lymphoma is most common, followed by MALT lymphoma, and follicular lymphoma. More rare types include T-cell lymphomas, Burkitt lymphoma, or classic Hodgkin lymphoma. The condition is usually associated with Hashimoto thyroiditis. Patients typically present with a mass in the thyroid, with or without cervical lymphadenopathy. Hoarseness and dyspnea may occur, while constitutional symptoms are rare. Prognosis is favorable for patients with localized tumors.",,,,,,,,, +GARD:19360,Active,Orphanet,ORPHA:97287,Disorder,[Disease],Bronchial neuroendocrine tumor,[Bronchial NET],"A rare neuroendocrine neoplasm characterized by origin from pulmonary neuroendocrine cells and ranging from low-grade typical carcinoid and intermediate-grade atypical carcinoid to high-grade large-cell neuroendocrine carcinoma and small-cell carcinoma. Two thirds of the tumors are located in the major bronchi, with a predilection for the right lung, in particular the middle lobe. Most patients with central bronchial tumors present with hemoptysis, cough, recurrent pulmonary infections, fever, chest discomfort, and unilateral wheezing, while peripheral carcinoids are usually discovered only incidentally. Carcinoid syndrome or Cushing syndrome are very rare. The tumors may be part of multiple endocrine neoplasia type 1.",,,,,,,,, +GARD:19361,Active,Orphanet,ORPHA:97289,Disorder,[Disease],Thymic neuroendocrine tumor,,"A rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome, respectively.",,,,,,,,, +GARD:19362,Active,Orphanet,ORPHA:97292,Disorder,[Particular clinical situation in a disease or syndrome],Cardiogenic shock,,"A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.",,,,,,,,, +GARD:19363,Active,Orphanet,ORPHA:97293,Group of disorders,[Category],Rare benign ovarian tumor,,,,,,,,,,, +GARD:19364,Active,Orphanet,ORPHA:97335,Disorder,[Disease],Osgood-Schlatter disease,"[Aseptic necrosis of the tibial tubercle, Osteochondrosis of the tibial tubercle]",Osgood-Schlatter disease is a traction apophysitis of the anterior tibial tubercle described in active adolescents and characterized by gradual onset of pain and swelling of the anterior knee causing limping that usually disappears at the end of growth.,,,,,,,,, +GARD:19365,Active,Orphanet,ORPHA:97336,Disorder,[Disease],Panner disease,"[Aseptic necrosis of the capital humerus, Osteochondrosis of the capital humerus]","Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum (see this term), occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.",,,,,,,,, +GARD:19366,Active,Orphanet,ORPHA:97337,Disorder,[Disease],Sinding-Larsen-Johansson disease,"[Aseptic necrosis of patella, Osteochondrosis of patella]",Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella.,,,,,,,,, +GARD:19367,Active,Orphanet,ORPHA:97338,Disorder,[Disease],Melanoma of soft tissue,[Clear cell sarcoma of the tendons and aponeuroses],"A rare soft tissue tumor characterized by a slowly growing mass typically involving tendons and aponeuroses of the extremities, composed of polygonal or spindle-shaped cells with melanocytic differentiation. The tumor typically affects young adults, who often present with pain or tenderness at the tumor site. Prognosis is poor with high recurrence rates and frequent metastasis, especially to lymph nodes, lung, and bones.",,,,,,,,, +GARD:19368,Active,Orphanet,ORPHA:97339,Disorder,[Morphological anomaly],Dural sinus malformation,"[Cranial dural arteriovenous fistula, Cranial dural arteriovenous malformations]","A rare neurovascular malformation characterized by massive dilation of one or more dural sinuses typically associated with arteriovenous shunts. Anatomic types are the lateral type involving the jugular bulb, which presents with minimal symptoms, and the usually symptomatic midline type involving the confluens sinuum (torcular Herophili) and adjacent posterior sinuses. Complications include sinus thrombosis, venous infarction, and cerebral hemorrhage, as well as cardiac failure, macrocrania, and hydrocephalus. Spontaneous regression of the malformation may occur.",,,,,,,,, +GARD:19369,Active,Orphanet,ORPHA:97341,Disorder,[Disease],Persistent placoid maculopathy,,"Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.",,,,,,,,, +GARD:19370,Active,Orphanet,ORPHA:97349,Disorder,[Disease],Postencephalitic parkinsonism,,,,,,,,,,, +GARD:19371,Active,Orphanet,ORPHA:97353,Disorder,[Disease],Dementia pugilistica,"[Boxer's dementia, Chronic traumatic encephalopathy, Punch-drunk syndrome]","A rare neurologic disease characterized by progressive neurodegeneration secondary to repetitive mild traumatic brain injuries. The clinical picture is highly variable and includes behavioral or psychiatric symptoms (such as aggression, depression, delusions, and suicidality), cognitive impairment (including diminished attention, memory deficits, executive functioning deficits, and dementia), and motor deficits (including parkinsonism, ataxia, and dysarthria). Neuropathological hallmark is the accumulation of phosphorylated tau-protein in sulci and perivascular regions.",,,,,,,,, +GARD:19372,Active,Orphanet,ORPHA:97355,Disorder,[Disease],Caribbean parkinsonism,[Atypical parkinsonism in the Caribbean],"Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.",,,,,,,,, +GARD:19373,Active,Orphanet,ORPHA:97361,Subtype of disorder,[Clinical subtype],"Renal hypoplasia, unilateral",,A form of renal hypoplasia characterized by unilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic with minimal risk of renal failure in childhood,,,,,,,,, +GARD:19374,Active,Orphanet,ORPHA:97362,Subtype of disorder,[Clinical subtype],"Renal hypoplasia, bilateral",,"A form of renal hypoplasia characterized by bilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic but may be associated with hypertension, and some excretory functional limitations, as well as eventual chronic renal failure.",,,,,,,,, +GARD:19375,Active,Orphanet,ORPHA:97363,Subtype of disorder,[Clinical subtype],Unilateral multicystic dysplastic kidney,"[Unilateral MCDK, Unilateral multicystic renal dysplasia]","A rare form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.",,,,,,,,, +GARD:19376,Active,Orphanet,ORPHA:97366,Disorder,[Morphological anomaly],Multiloculated renal cyst,"[Multilocular cyst of the kidney, Multilocular renal cyst]","A rare benign renal tumor characterized by a typically unilateral, solitary, multiloculated cystic mass consisting of small, non-communicating cysts with flat, cuboidal, or hobnail epithelial lining, separated by fibrous septa which may have an ovarian stroma-like appearance or be paucicellular. The tumor is surrounded by a thick fibrous capsule and does not contain solid areas or necrosis. Patients may be asymptomatic or present with a palpable abdominal mass and/or abdominal or flank pain. Age distribution is bimodal, the typical age of onset being either below five or between 40 and 70 years of age.",,,,,,,,, +GARD:19377,Active,Orphanet,ORPHA:97367,Subtype of disorder,[Etiological subtype],Renal tubular dysgenesis due to twin-twin transfusion,,"A rare acquired form of renal tubular dysgenesis that develops in donor fetuses due to the shunting of blood flow to the kidney of the recipient and characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).",,,,,,,,, +GARD:19378,Active,Orphanet,ORPHA:97368,Subtype of disorder,[Etiological subtype],Drug-related renal tubular dysgenesis,,,,,,,,,,, +GARD:19379,Active,Orphanet,ORPHA:97563,Subtype of disorder,[Clinical subtype],Pauci-immune glomerulonephritis with ANCA,[Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody],"A form of pauci-immune glomerulonephritis characterized by a rapidly progressive glomerulonephritis in association with the presence of circulating antineutrophilic cytoplasmic antibodies (ANCA), mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO). Patients usually present with urinary abnormalities and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.",,,,,,,,, +GARD:19380,Active,Orphanet,ORPHA:97564,Subtype of disorder,[Clinical subtype],Pauci-immune glomerulonephritis without ANCA,"[Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis, Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody]","A form of pauci-immune glomerulonephritis characterized by rapidly progressive glomerulonephritis and the absence of antineutrophilic cytoplasmic antibodies (ANCA). In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease, have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. The prognosis is generally poorer.",,,,,,,,, +GARD:19381,Active,Orphanet,ORPHA:97598,Disorder,[Disease],Congenital renal artery stenosis,[Congenital renovascular hypoplasia],"A rare renal disease characterized by congenital unilateral or bilateral narrowing of the renal artery leading to severe arterial hypertension and progressive renal failure in the neonate. Manifestations include hypertensive encephalopathy and/or neurological signs and symptoms due to hyponatremia, polyuria, renal electrolyte loss, proteinuria, and hematuria.",,,,,,,,, +GARD:19382,Active,Orphanet,ORPHA:97678,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 13,[UPD(13)mat],Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:19383,Active,Orphanet,ORPHA:97944,Group of disorders,[Category],Gastroduodenal malformation,,,,,,,,,,, +GARD:19384,Active,Orphanet,ORPHA:97945,Group of disorders,[Category],Intestinal malformation,,,,,,,,,,, +GARD:19385,Active,Orphanet,ORPHA:97957,Group of disorders,[Category],Respiratory or thoracic malformation,,,,,,,,,,, +GARD:19386,Active,Orphanet,ORPHA:98010,Group of disorders,[Category],Infectious disease of the nervous system,,,,,,,,,,, +GARD:19387,Active,Orphanet,ORPHA:98022,Group of disorders,[Category],Rare headache,,,,,,,,,,, +GARD:19388,Active,Orphanet,ORPHA:98027,Group of disorders,[Category],Rare disease with odontological manifestation,,,,,,,,,,, +GARD:19389,Active,Orphanet,ORPHA:98033,Group of disorders,[Category],Rare neurologic disease with psychiatric involvement,,,,,,,,,,, +GARD:19390,Active,Orphanet,ORPHA:98038,Group of disorders,[Category],Cranial malformation,,,,,,,,,,, +GARD:19391,Active,Orphanet,ORPHA:98039,Group of disorders,[Category],Digestive tract malformation,,,,,,,,,,, +GARD:19392,Active,Orphanet,ORPHA:98041,Group of disorders,[Category],"Visceral malformation of the liver, biliary tract, pancreas or spleen",,,,,,,,,,, +GARD:19393,Active,Orphanet,ORPHA:98043,Group of disorders,[Category],Diaphragmatic or abdominal wall malformation,,,,,,,,,,, +GARD:19394,Active,Orphanet,ORPHA:98044,Group of disorders,[Category],Central nervous system malformation,,,,,,,,,,, +GARD:19395,Active,Orphanet,ORPHA:98045,Group of disorders,[Category],Respiratory or mediastinal malformation,,,,,,,,,,, +GARD:19396,Active,Orphanet,ORPHA:98048,Group of disorders,[Category],Rare male infertility,,,,,,,,,,, +GARD:19397,Active,Orphanet,ORPHA:98049,Group of disorders,[Category],Rare female infertility,,,,,,,,,,, +GARD:19398,Active,Orphanet,ORPHA:98052,Group of disorders,[Category],Rare allergic respiratory disease,[Rare respiratory allergy],,,,,,,,,, +GARD:19399,Active,Orphanet,ORPHA:98054,Group of disorders,[Category],Rare genetic cardiac disease,,,,,,,,,,, +GARD:194,Active,Orphanet,ORPHA:2066,Disorder,[Disease],Gamma-aminobutyric acid transaminase deficiency,[GABA transaminase deficiency],"Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.",[613163],,,,,Gamma aminobutyric acid transaminase deficiency,TRUE,FALSE,Active +GARD:19400,Active,Orphanet,ORPHA:98056,Group of disorders,[Category],Rare genetic renal disease,,,,,,,,,,, +GARD:19401,Active,Orphanet,ORPHA:98057,Group of disorders,[Category],Rare tumor,[Rare neoplasm],,,,,,,,,, +GARD:19402,Active,Orphanet,ORPHA:98058,Group of disorders,[Category],Rare urinary tract tumor,"[Rare urinary tract cancer, Rare urinary tract neoplasm]",,,,,,,,,, +GARD:19403,Active,Orphanet,ORPHA:98059,Group of disorders,[Category],Rare digestive tumor,"[Rare digestive cancer, Rare digestive neoplasm]",,,,,,,,,, +GARD:19404,Active,Orphanet,ORPHA:98060,Group of disorders,[Category],Rare respiratory tumor,"[Rare respiratory cancer, Rare respiratory neoplasm]",,,,,,,,,, +GARD:19405,Active,Orphanet,ORPHA:98061,Group of disorders,[Category],Rare otorhinolaryngologic tumor,"[Rare ORL cancer, Rare ORL neoplasm, Rare ORL tumor]",,,,,,,,,, +GARD:19406,Active,Orphanet,ORPHA:98062,Group of disorders,[Category],Rare nervous system tumor,[Rare nervous system neoplasm],,,,,,,,,, +GARD:19407,Active,Orphanet,ORPHA:98063,Group of disorders,[Category],Rare gynecological tumor,"[Rare gynaecological cancer, Rare gynaecological neoplasm]",,,,,,,,,, +GARD:19408,Active,Orphanet,ORPHA:98074,Group of disorders,[Category],Gonadal dysgenesis of gynecological interest,,,,,,,,,,, +GARD:19409,Active,Orphanet,ORPHA:98078,Group of disorders,[Category],"46,XX disorder of sex development induced by androgens excess","[46,XX DSD induced by androgens excess]",,,,,,,,,, +GARD:19410,Active,Orphanet,ORPHA:98086,Group of disorders,[Category],"46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue",,,,,,,,,,, +GARD:19411,Active,Orphanet,ORPHA:98087,Group of disorders,[Category],"Syndrome with 46,XY disorder of sex development","[Syndrome with 46,XY DSD]",,,,,,,,,, +GARD:19412,Active,Orphanet,ORPHA:98095,Group of disorders,[Category],Autosomal recessive congenital cerebellar ataxia,,,,,,,,,,, +GARD:19413,Active,Orphanet,ORPHA:98096,Group of disorders,[Category],Autosomal recessive metabolic cerebellar ataxia,,,,,,,,,,, +GARD:19414,Active,Orphanet,ORPHA:98097,Group of disorders,[Category],Autosomal recessive cerebellar ataxia due to a DNA repair defect,,,,,,,,,,, +GARD:19415,Active,Orphanet,ORPHA:98098,Group of disorders,[Category],Autosomal recessive degenerative and progressive cerebellar ataxia,,,,,,,,,,, +GARD:19416,Active,Orphanet,ORPHA:98099,Group of disorders,[Category],Autosomal recessive syndromic cerebellar ataxia,,,,,,,,,,, +GARD:19417,Active,Orphanet,ORPHA:98127,Group of disorders,[Category],Autosomal anomaly,,,,,,,,,,, +GARD:19418,Active,Orphanet,ORPHA:98130,Group of disorders,[Category],Autosomal trisomy,[Autosomal duplication],,,,,,,,,, +GARD:19419,Active,Orphanet,ORPHA:98131,Group of disorders,[Category],Total autosomal trisomy,,,,,,,,,,, +GARD:19420,Active,Orphanet,ORPHA:98132,Group of disorders,[Category],Partial autosomal trisomy/tetrasomy,,,,,,,,,,, +GARD:19421,Active,Orphanet,ORPHA:98141,Group of disorders,[Category],Total autosomal monosomy,,,,,,,,,,, +GARD:19422,Active,Orphanet,ORPHA:98142,Group of disorders,[Category],Partial autosomal monosomy,[Partial autosomal deletion],,,,,,,,,, +GARD:19423,Active,Orphanet,ORPHA:98152,Group of disorders,[Category],Autosomal uniparental disomy,,,,,,,,,,, +GARD:19424,Active,Orphanet,ORPHA:98153,Group of disorders,[Category],Maternal uniparental disomy,,,,,,,,,,, +GARD:19425,Active,Orphanet,ORPHA:98154,Group of disorders,[Category],Paternal uniparental disomy,,,,,,,,,,, +GARD:19426,Active,Orphanet,ORPHA:98155,Group of disorders,[Category],Sex-chromosome anomaly,[Allosome anomaly],,,,,,,,,, +GARD:19427,Active,Orphanet,ORPHA:98156,Group of disorders,[Category],Sex-chromosome number anomaly,[Allosome number anomaly],,,,,,,,,, +GARD:19428,Active,Orphanet,ORPHA:98157,Group of disorders,[Category],Sex-chromosome structural anomaly,[Allosome structural anomaly],,,,,,,,,, +GARD:19429,Active,Orphanet,ORPHA:98158,Group of disorders,[Category],Chromosome Y structural anomaly,,,,,,,,,,, +GARD:19430,Active,Orphanet,ORPHA:98159,Group of disorders,[Category],Chromosome X structural anomaly,,,,,,,,,,, +GARD:19431,Active,Orphanet,ORPHA:98196,Group of disorders,[Category],Malformation syndrome with hamartosis,[Dysmorphologic diseases with phakomatosis],,,,,,,,,, +GARD:19432,Active,Orphanet,ORPHA:98203,Group of disorders,[Category],Combined dystonia,[Dystonia-plus syndrome],,,,,,,,,, +GARD:19433,Active,Orphanet,ORPHA:98252,Group of disorders,[Category],Infectious encephalitis,,,,,,,,,,, +GARD:19434,Active,Orphanet,ORPHA:98255,Group of disorders,[Category],Chronic encephalitis,,,,,,,,,,, +GARD:19435,Active,Orphanet,ORPHA:98257,Group of disorders,[Category],Neonatal epilepsy syndrome,,,,,,,,,,, +GARD:19436,Active,Orphanet,ORPHA:98258,Group of disorders,[Category],Infantile epilepsy syndrome,,,,,,,,,,, +GARD:19437,Active,Orphanet,ORPHA:98259,Group of disorders,[Category],Childhood-onset epilepsy syndrome,,,,,,,,,,, +GARD:19438,Active,Orphanet,ORPHA:98260,Group of disorders,[Category],Adolescent-onset epilepsy syndrome,,,,,,,,,,, +GARD:19439,Active,Orphanet,ORPHA:98267,Disorder,[Disease],Genetic non-syndromic obesity,[Monogenic obesity due to a leptin-melanocortin pathway anomaly],"A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others.",,,,,,,,, +GARD:19440,Active,Orphanet,ORPHA:98282,Group of disorders,[Category],Plasma cell tumor,,,,,,,,,,, +GARD:19441,Active,Orphanet,ORPHA:98287,Group of disorders,[Category],Histiocytic and dendritic cell tumor,,,,,,,,,,, +GARD:19442,Active,Orphanet,ORPHA:98288,Group of disorders,[Category],Macrophage or histiocytic tumor,,,,,,,,,,, +GARD:19443,Active,Orphanet,ORPHA:98290,Group of disorders,[Category],Immunodeficiency-associated lymphoproliferative disease,,,,,,,,,,, +GARD:19444,Active,Orphanet,ORPHA:98301,Group of disorders,[Category],Laminopathy,,,,,,,,,,, +GARD:19445,Active,Orphanet,ORPHA:98313,Group of disorders,[Category],Male infertility due to gonadal dysgenesis,[Male infertility due to testicular dysgenesis],,,,,,,,,, +GARD:19446,Active,Orphanet,ORPHA:98343,Group of disorders,[Category],Male infertility due to obstructive azoospermia,[Male infertility due to impaired sperm transport],,,,,,,,,, +GARD:19447,Active,Orphanet,ORPHA:98349,Group of disorders,[Category],Autosomal dominant isolated diffuse palmoplantar keratoderma,[Autosomal dominant isolated diffuse palmoplantar hyperkeratosis],,,,,,,,,, +GARD:19448,Active,Orphanet,ORPHA:98352,Group of disorders,[Category],Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature,[Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:19449,Active,Orphanet,ORPHA:98353,Group of disorders,[Category],Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature,[Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:19450,Active,Orphanet,ORPHA:98356,Group of disorders,[Category],Autosomal recessive isolated diffuse palmoplantar keratoderma,[Autosomal recessive isolated diffuse palmoplantar hyperkeratosis],,,,,,,,,, +GARD:19451,Active,Orphanet,ORPHA:98357,Group of disorders,[Category],Autosomal recessive disease with focal palmoplantar keratoderma as a major feature,[Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:19452,Active,Orphanet,ORPHA:98360,Group of disorders,[Category],Constitutional anemia due to iron metabolism disorder,,,,,,,,,,, +GARD:19453,Active,Orphanet,ORPHA:98362,Group of disorders,[Category],Constitutional sideroblastic anemia,,,,,,,,,,, +GARD:19454,Active,Orphanet,ORPHA:98363,Group of disorders,[Category],Rare hemolytic anemia,,,,,,,,,,, +GARD:19455,Active,Orphanet,ORPHA:98364,Group of disorders,[Category],Rare constitutional hemolytic anemia due to a red cell membrane anomaly,,,,,,,,,,, +GARD:19456,Active,Orphanet,ORPHA:98365,Group of disorders,[Clinical group],Hereditary stomatocytosis,[Hereditary stomatocytic disease],,,,,,,,,, +GARD:19457,Active,Orphanet,ORPHA:98366,Group of disorders,[Category],Constitutional hemolytic anemia due to acanthocytosis,[Constitutional hemolytic anemia due to acanthocytic disorder],,,,,,,,,, +GARD:19458,Active,Orphanet,ORPHA:98369,Group of disorders,[Category],Rare constitutional hemolytic anemia due to an enzyme disorder,,,,,,,,,,, +GARD:19459,Active,Orphanet,ORPHA:98370,Group of disorders,[Category],Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies,,,,,,,,,,, +GARD:19460,Active,Orphanet,ORPHA:98372,Group of disorders,[Category],Hemolytic anemia due to a disorder of glycolytic enzymes,,,,,,,,,,, +GARD:19461,Active,Orphanet,ORPHA:98374,Group of disorders,[Category],Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder,[Hemolytic anemia due to an erythroenzymopathy],,,,,,,,,, +GARD:19462,Active,Orphanet,ORPHA:98396,Group of disorders,[Category],Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder,,,,,,,,,,, +GARD:19463,Active,Orphanet,ORPHA:98408,Group of disorders,[Category],Constitutional megaloblastic anemia due to folate metabolism disorder,,,,,,,,,,, +GARD:19464,Active,Orphanet,ORPHA:98415,Group of disorders,[Category],Vitamin B12- and folate-independent constitutional megaloblastic anemia,,,,,,,,,,, +GARD:19465,Active,Orphanet,ORPHA:98421,Group of disorders,[Clinical group],Primary acquired red cell aplasia,[Primary autoimmune red cell aplasia],,,,,,,,,, +GARD:19466,Active,Orphanet,ORPHA:98427,Group of disorders,[Clinical group],Polycythemia,,,,,,,,,,, +GARD:19467,Active,Orphanet,ORPHA:98428,Group of disorders,[Category],Secondary polycythemia,[Secondary erythrocytosis],Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms).,,,,,,,,, +GARD:19468,Active,Orphanet,ORPHA:98429,Group of disorders,[Category],Rare coagulation disorder,,,,,,,,,,, +GARD:19469,Active,Orphanet,ORPHA:98455,Group of disorders,[Category],Alpha granule disease,,,,,,,,,,, +GARD:19470,Active,Orphanet,ORPHA:98456,Group of disorders,[Category],Dense granule disease,[Delta granule disease],,,,,,,,,, +GARD:19471,Active,Orphanet,ORPHA:98472,Group of disorders,[Category],Skeletal muscle disease,,,,,,,,,,, +GARD:19472,Active,Orphanet,ORPHA:98486,Group of disorders,[Category],Metabolic myopathy,,,,,,,,,,, +GARD:19473,Active,Orphanet,ORPHA:98491,Group of disorders,[Category],Neuromuscular junction disease,,,,,,,,,,, +GARD:19474,Active,Orphanet,ORPHA:98494,Group of disorders,[Category],Acquired neuromuscular junction disease,,,,,,,,,,, +GARD:19475,Active,Orphanet,ORPHA:98495,Group of disorders,[Category],Genetic neuromuscular junction disease,,,,,,,,,,, +GARD:19476,Active,Orphanet,ORPHA:98496,Group of disorders,[Category],Rare peripheral neuropathy,,,,,,,,,,, +GARD:19477,Active,Orphanet,ORPHA:98503,Group of disorders,[Category],Motor neuron disease,[Anterior horn cell disease],,,,,,,,,, +GARD:19478,Active,Orphanet,ORPHA:98505,Group of disorders,[Category],Genetic motor neuron disease,[Genetic anterior horn cell disease],,,,,,,,,, +GARD:19479,Active,Orphanet,ORPHA:98506,Group of disorders,[Category],Acquired motor neuron disease,[Acquired anterior horn cell disease],,,,,,,,,, +GARD:19480,Active,Orphanet,ORPHA:98514,Group of disorders,[Category],Malformation of the cerebellar vermis,,,,,,,,,,, +GARD:19481,Active,Orphanet,ORPHA:98516,Group of disorders,[Category],Malformation of the cerebellar hemispheres,,,,,,,,,,, +GARD:19482,Active,Orphanet,ORPHA:98518,Group of disorders,[Category],Cranial nerve and nuclear aplasia,,,,,,,,,,, +GARD:19483,Active,Orphanet,ORPHA:98519,Group of disorders,[Category],Posterior fossa malformation,,,,,,,,,,, +GARD:19484,Active,Orphanet,ORPHA:98534,Group of disorders,[Category],Neurodegenerative disease with dementia,,,,,,,,,,, +GARD:19485,Active,Orphanet,ORPHA:98535,Group of disorders,[Clinical group],Frontotemporal degeneration with dementia,,,,,,,,,,, +GARD:19486,Active,Orphanet,ORPHA:98538,Group of disorders,[Category],Ataxia with dementia,,,,,,,,,,, +GARD:19487,Active,Orphanet,ORPHA:98539,Group of disorders,[Category],Early-onset ataxia with dementia,,,,,,,,,,, +GARD:19488,Active,Orphanet,ORPHA:98540,Group of disorders,[Category],Late-onset ataxia with dementia,,,,,,,,,,, +GARD:19489,Active,Orphanet,ORPHA:98542,Group of disorders,[Category],Infectious disease with dementia,,,,,,,,,,, +GARD:19490,Active,Orphanet,ORPHA:98543,Group of disorders,[Category],Metabolic disease with dementia,,,,,,,,,,, +GARD:19491,Active,Orphanet,ORPHA:98544,Group of disorders,[Category],Cerebral lipidosis with dementia,,,,,,,,,,, +GARD:19492,Active,Orphanet,ORPHA:98549,Group of disorders,[Category],Rare cerebrovascular dementia,,,,,,,,,,, +GARD:19493,Active,Orphanet,ORPHA:98555,Group of disorders,[Category],Microphthalmia-anophthalmia-coloboma,[Anophthalmia-microphthalmia syndrome],,,,,,,,,, +GARD:19494,Active,Orphanet,ORPHA:98557,Group of disorders,[Category],Syndromic aniridia,,,,,,,,,,, +GARD:19495,Active,Orphanet,ORPHA:98560,Group of disorders,[Category],Rare palpebral disorder,,,,,,,,,,, +GARD:19496,Active,Orphanet,ORPHA:98561,Group of disorders,[Category],Congenital malformation of the eyelid,,,,,,,,,,, +GARD:19497,Active,Orphanet,ORPHA:98563,Group of disorders,[Clinical group],Microblepharon-ablephara syndrome,,,,,,,,,,, +GARD:19498,Active,Orphanet,ORPHA:98564,Group of disorders,[Category],Eyelid border anomaly,,,,,,,,,,, +GARD:19499,Active,Orphanet,ORPHA:98565,Group of disorders,[Category],Syndromic ankyloblepharon filiforme adnatum,[Syndromic ankyloblepharon],,,,,,,,,, +GARD:195,Active,Orphanet,ORPHA:682,Disorder,[Disease],Hyperkalemic periodic paralysis,"[Adynamia episodica hereditaria, Familial hyperPP, Familial hyperkalemic periodic paralysis, Gamstorp disease, Gamstorp episodic adynamy, HYPP, HyperKPP, HyperPP, Hyperkalemic PP, Primary hyperPP, Primary hyperkalemic periodic paralysis]",A rare muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.,[170500],,,,,Hyperkalemic periodic paralysis,TRUE,FALSE,Active +GARD:19500,Active,Orphanet,ORPHA:98566,Group of disorders,[Category],Syndromic eyelid coloboma,[Syndromic palpebral coloboma],,,,,,,,,, +GARD:19501,Active,Orphanet,ORPHA:98567,Group of disorders,[Category],Rare eyelid malposition disorder,[Eyelids malposition disorder],,,,,,,,,, +GARD:19502,Active,Orphanet,ORPHA:98570,Group of disorders,[Category],Congenital ectropion,,,,,,,,,,, +GARD:19503,Active,Orphanet,ORPHA:98571,Group of disorders,[Category],Secondary ectropion,,,,,,,,,,, +GARD:19504,Active,Orphanet,ORPHA:98574,Group of disorders,[Category],Syndromic epicanthus,,,,,,,,,,, +GARD:19505,Active,Orphanet,ORPHA:98575,Group of disorders,[Category],Syndromic telecanthus,,,,,,,,,,, +GARD:19506,Active,Orphanet,ORPHA:98576,Group of disorders,[Category],Syndromic outer canthal malposition,[Malposition of external canthus],,,,,,,,,, +GARD:19507,Active,Orphanet,ORPHA:98578,Group of disorders,[Category],Rare disorder with ptosis,,,,,,,,,,, +GARD:19508,Active,Orphanet,ORPHA:98594,Group of disorders,[Category],Rare eyebrow/eyelash disorder,[Rare eyebrow/eyelashes anomaly],,,,,,,,,, +GARD:19509,Active,Orphanet,ORPHA:98602,Group of disorders,[Category],Rare disorder of the lacrimal apparatus,[Rare lacrimal system disease],,,,,,,,,, +GARD:19510,Active,Orphanet,ORPHA:98604,Group of disorders,[Category],Congenital alacrima,,,,,,,,,,, +GARD:19511,Active,Orphanet,ORPHA:98605,Group of disorders,[Category],Lacrimal drainage system anomaly,[Excretory apparatus of the lacrimal system anomaly],,,,,,,,,, +GARD:19512,Active,Orphanet,ORPHA:98609,Group of disorders,[Category],EEC syndrome and related disorders,"[EEC syndrome and related syndrome, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders]",,,,,,,,,, +GARD:19513,Active,Orphanet,ORPHA:98610,Group of disorders,[Category],Rare disorder with conjunctival involvement as a major feature,,,,,,,,,,, +GARD:19514,Active,Orphanet,ORPHA:98618,Group of disorders,[Category],Rare refraction anomaly,,,,,,,,,,, +GARD:19515,Active,Orphanet,ORPHA:98621,Group of disorders,[Category],Rare hyperopia and astigmatism,,,,,,,,,,, +GARD:19516,Active,Orphanet,ORPHA:98622,Group of disorders,[Category],Syndromic hyperopia,,,,,,,,,,, +GARD:19517,Active,Orphanet,ORPHA:98623,Group of disorders,[Category],Syndromic keratoconus,,,,,,,,,,, +GARD:19518,Active,Orphanet,ORPHA:98625,Group of disorders,[Category],Superficial corneal dystrophy,[Anterior corneal dystrophy],"The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.",,,,,,,,, +GARD:19519,Active,Orphanet,ORPHA:98626,Group of disorders,[Category],Stromal corneal dystrophy,,"The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.",,,,,,,,, +GARD:19520,Active,Orphanet,ORPHA:98627,Group of disorders,[Category],Posterior corneal dystrophy,,"Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.",,,,,,,,, +GARD:19521,Active,Orphanet,ORPHA:98628,Group of disorders,[Category],Syndromic corneal dystrophy,,,,,,,,,,, +GARD:19522,Active,Orphanet,ORPHA:98631,Group of disorders,[Category],Congenital malformation of the eye with glaucoma as a major feature,,,,,,,,,,, +GARD:19523,Active,Orphanet,ORPHA:98635,Group of disorders,[Category],Corneodysgenesis,[Corneogoniodysgenesis],,,,,,,,,, +GARD:19524,Active,Orphanet,ORPHA:98638,Group of disorders,[Category],Rare disease with glaucoma as a major feature,,,,,,,,,,, +GARD:19525,Active,Orphanet,ORPHA:98639,Group of disorders,[Category],Rare lens disease,,,,,,,,,,, +GARD:19526,Active,Orphanet,ORPHA:98640,Group of disorders,[Category],Rare disorder with lens opacification,[Rare cataract],,,,,,,,,, +GARD:19527,Active,Orphanet,ORPHA:98641,Group of disorders,[Category],Syndromic cataract,,,,,,,,,,, +GARD:19528,Active,Orphanet,ORPHA:98642,Group of disorders,[Category],Chromosomal anomaly with cataract,,,,,,,,,,, +GARD:19529,Active,Orphanet,ORPHA:98644,Group of disorders,[Category],Metabolic disease with cataract,,,,,,,,,,, +GARD:19530,Active,Orphanet,ORPHA:98646,Group of disorders,[Category],Renal disease with cataract,,,,,,,,,,, +GARD:19531,Active,Orphanet,ORPHA:98648,Group of disorders,[Category],Musculoskeletal disease with cataract,,,,,,,,,,, +GARD:19532,Active,Orphanet,ORPHA:98649,Group of disorders,[Category],Dentocutaneous disease with cataract,,,,,,,,,,, +GARD:19533,Active,Orphanet,ORPHA:98650,Group of disorders,[Category],Craniofacial anomaly with cataract,,,,,,,,,,, +GARD:19534,Active,Orphanet,ORPHA:98652,Group of disorders,[Category],Lens size anomaly,,,,,,,,,,, +GARD:19535,Active,Orphanet,ORPHA:98653,Group of disorders,[Category],Lens position anomaly,,,,,,,,,,, +GARD:19536,Active,Orphanet,ORPHA:98655,Group of disorders,[Category],Lens shape anomaly,,,,,,,,,,, +GARD:19537,Active,Orphanet,ORPHA:98658,Group of disorders,[Category],Color-vision disease,,,,,,,,,,, +GARD:19538,Active,Orphanet,ORPHA:98661,Group of disorders,[Category],Syndromic rod-cone dystrophy,[Syndromic retinitis pigmentosa],,,,,,,,,, +GARD:19539,Active,Orphanet,ORPHA:98668,Group of disorders,[Category],Vitreoretinopathy,,,,,,,,,,, +GARD:19540,Active,Orphanet,ORPHA:98671,Group of disorders,[Category],Hereditary optic neuropathy,,,,,,,,,,, +GARD:19541,Active,Orphanet,ORPHA:98681,Group of disorders,[Category],Rare disorder with strabismus,,,,,,,,,,, +GARD:19542,Active,Orphanet,ORPHA:98683,Group of disorders,[Category],Syndromic disorder with strabismus,[Syndrome with a symptomatic strabismus],,,,,,,,,, +GARD:19543,Active,Orphanet,ORPHA:98684,Group of disorders,[Category],Craniostenosis with strabismus,,,,,,,,,,, +GARD:19544,Active,Orphanet,ORPHA:98685,Group of disorders,[Category],Rare oculomotor nerve disorder,,,,,,,,,,, +GARD:19545,Active,Orphanet,ORPHA:98686,Disorder,[Disease],Congenital trochlear nerve palsy,"[Congenital CNIV palsy, Congenital fourth cranial nerve palsy, Congenital superior oblique palsy]","A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.",,,,,,,,, +GARD:19546,Active,Orphanet,ORPHA:98687,Group of disorders,[Category],Supranuclear eye movement disorder,,,,,,,,,,, +GARD:19547,Active,Orphanet,ORPHA:98688,Group of disorders,[Category],Oculomotor apraxia,,,,,,,,,,, +GARD:19548,Active,Orphanet,ORPHA:98706,Group of disorders,[Category],Oculocutaneous or ocular albinism,,,,,,,,,,, +GARD:19549,Active,Orphanet,ORPHA:98715,Group of disorders,[Category],Uveitis,,,,,,,,,,, +GARD:19550,Active,Orphanet,ORPHA:98716,Group of disorders,[Category],Heart position anomaly,,,,,,,,,,, +GARD:19551,Active,Orphanet,ORPHA:98717,Group of disorders,[Category],Transposition of the great arteries and conotruncal cardiac anomaly,,,,,,,,,,, +GARD:19552,Active,Orphanet,ORPHA:98718,Group of disorders,[Category],Aortic malformation,,,,,,,,,,, +GARD:19553,Active,Orphanet,ORPHA:98719,Group of disorders,[Category],Pulmonary artery or pulmonary branch anomaly,,,,,,,,,,, +GARD:19554,Active,Orphanet,ORPHA:98720,Group of disorders,[Category],Atrioventricular valve anomaly,,,,,,,,,,, +GARD:19555,Active,Orphanet,ORPHA:98721,Group of disorders,[Category],Congenital tricuspid malformation,,,,,,,,,,, +GARD:19556,Active,Orphanet,ORPHA:98724,Group of disorders,[Category],Congenital anomaly of the great arteries,"[Congenital aorta, aortic arch or pulmonary arteries anomaly]",,,,,,,,,, +GARD:19557,Active,Orphanet,ORPHA:98725,Group of disorders,[Category],Ascending aorta anomaly,,,,,,,,,,, +GARD:19558,Active,Orphanet,ORPHA:98727,Group of disorders,[Category],Rare atrial defect and interatrial communication,[Atrial defect and interauricular communication],,,,,,,,,, +GARD:19559,Active,Orphanet,ORPHA:98729,Group of disorders,[Category],Congenital pulmonary veins anomaly,,,,,,,,,,, +GARD:19560,Active,Orphanet,ORPHA:98731,Group of disorders,[Category],Congenital arteriovenous fistula,,"A rare simple vascular malformation characterized by a congenital abnormal connection between an artery and a vein, appearing as varicose veins with port wine discoloration, leading to a bypass of the capillary bed. Signs and symptoms include palpable continuous thrill in the dilated vessels, continuous machinery murmur with systolic accentuation, collapsing arterial pulse, Nicoladoni Branham sign, as well as local gigantism and hot ulcers due to hypoxia, among others.",,,,,,,,, +GARD:19561,Active,Orphanet,ORPHA:98733,Group of disorders,[Category],Noonan syndrome and Noonan-related syndrome,,,,,,,,,,, +GARD:19562,Active,Orphanet,ORPHA:98737,Group of disorders,[Category],Genetic neurological muscular channelopathy,,,,,,,,,,, +GARD:19563,Active,Orphanet,ORPHA:98738,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic sodium channel defect,,,,,,,,,,, +GARD:19564,Active,Orphanet,ORPHA:98739,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic chloride channel defect,,,,,,,,,,, +GARD:19565,Active,Orphanet,ORPHA:98740,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic calcium channel defect,,,,,,,,,,, +GARD:19566,Active,Orphanet,ORPHA:98741,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic potassium channel defect,,,,,,,,,,, +GARD:19567,Active,Orphanet,ORPHA:98742,Group of disorders,[Category],Neurological muscular channelopathy due to a genetic ryanodine receptor defect,,,,,,,,,,, +GARD:19568,Active,Orphanet,ORPHA:98743,Group of disorders,[Category],Genetic neurological channelopathy of the central nervous system,,,,,,,,,,, +GARD:19569,Active,Orphanet,ORPHA:98744,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic sodium channel defect,,,,,,,,,,, +GARD:19570,Active,Orphanet,ORPHA:98745,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic calcium channel defect,,,,,,,,,,, +GARD:19571,Active,Orphanet,ORPHA:98746,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic potassium channel defect,,,,,,,,,,, +GARD:19572,Active,Orphanet,ORPHA:98747,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect,,,,,,,,,,, +GARD:19573,Active,Orphanet,ORPHA:98748,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect,,,,,,,,,,, +GARD:19574,Active,Orphanet,ORPHA:98749,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect,,,,,,,,,,, +GARD:19575,Active,Orphanet,ORPHA:98750,Group of disorders,[Category],Autoimmune neurological channelopathy,,,,,,,,,,, +GARD:19576,Active,Orphanet,ORPHA:98793,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to paternal 15q11q13 deletion,,,,,,,,,,, +GARD:19577,Active,Orphanet,ORPHA:98794,Subtype of disorder,[Etiological subtype],Angelman syndrome due to maternal 15q11q13 deletion,[Angelman syndrome due to maternal monosomy 15q11q13],,,,,,,,,, +GARD:19578,Active,Orphanet,ORPHA:98795,Subtype of disorder,[Etiological subtype],Angelman syndrome due to paternal uniparental disomy of chromosome 15,[UPD(15)pat],,,,,,,,,, +GARD:19579,Active,Orphanet,ORPHA:98797,Disorder,[Malformation syndrome],Isochromosomy Yp,,"Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.",,,,,,,,, +GARD:19580,Active,Orphanet,ORPHA:98798,Disorder,[Malformation syndrome],Isochromosomy Yq,,"Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.",,,,,,,,, +GARD:19581,Active,Orphanet,ORPHA:98815,Subtype of disorder,[Clinical subtype],"Benign childhood occipital epilepsy, Panayiotopoulos type","[Early-onset benign childhood occipital epilepsy, Panayiotopoulos syndrome]","Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.",,,,,,,,, +GARD:19582,Active,Orphanet,ORPHA:98816,Subtype of disorder,[Clinical subtype],"Benign childhood occipital epilepsy, Gastaut type",[Late-onset benign childhood occipital epilepsy],"Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.",,,,,,,,, +GARD:19583,Active,Orphanet,ORPHA:98824,Disorder,[Disease],Atypical chronic myeloid leukemia,[Subacute myeloid leukemia],"A rare myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood leukocytosis due to increased numbers of morphologically dysplastic neutrophils and their precursors, hypercellular bone marrow with granulocytic proliferation and dysplasia (with or without dysplasia in the erythroid and megakaryocytic lineages), and prominent dysgranulopoiesis, but no or minimal absolute basophilia or monocytosis. Blasts account for less than 20% of leukocytes in the blood and bone marrow. BCR-ABL1 fusion is absent, as well as PDGFRA, PDGFRB or FGFR1 rearrangement, or PCM1-JAK2. Patients may present with signs and symptoms related to splenomegaly, anemia, or thrombocytopenia. Prognosis is generally poor.",,,,,,,,, +GARD:19584,Active,Orphanet,ORPHA:98825,Disorder,[Disease],Unclassified myelodysplastic/myeloproliferative disease,[Unclassified mixed myelodysplastic/myeloproliferatic syndrome],"A rare myelodysplastic/myeloproliferative neoplasm characterized by clinical, laboratory, and morphological features of both myelodysplastic syndrome and myeloproliferative neoplasm at onset, in the absence of recent cytotoxic or growth factor therapy, and without Philadelphia chromosome, BCR-ABL1 or PCM1-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1. Cases of a previously well-defined myeloproliferative neoplasm developing dysplastic features are excluded, and the criteria for any other myelodysplastic/myeloproliferative neoplasm, myelodysplastic syndrome, or myeloproliferative neoplasm are not met.",,,,,,,,, +GARD:19585,Active,Orphanet,ORPHA:98826,Disorder,[Disease],Refractory anemia,,Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.,,,,,,,,, +GARD:19586,Active,Orphanet,ORPHA:98827,Disorder,[Disease],Unclassified myelodysplastic syndrome,,Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance.,,,,,,,,, +GARD:19587,Active,Orphanet,ORPHA:98831,Disorder,[Disease],Acute myeloid leukemia with 11q23 abnormalities,[AML with 11q23 abnormalities],"A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss.",,,,,,,,, +GARD:19588,Active,Orphanet,ORPHA:98832,Disorder,[Disease],Acute myeloid leukemia with minimal differentiation,"[AML M0, Minimally differentiated acute myeloblastic leukemia]","A rare subtype of acute myeloid leukemia characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood or other tissues. It usually presents with anemia, thrombocytopenia and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Low remission rates are reported.",,,,,,,,, +GARD:19589,Active,Orphanet,ORPHA:98838,Disorder,[Disease],Primary mediastinal large B-cell lymphoma,"[Large cell lymphoma of the mediastinum, Med-DLBCL, Mediastinal diffuse large-cell lymphoma with sclerosis, Primary mediastinal clear cell lymphoma of B-cell type]","A rare subtype of diffuse large B-cell lymphoma (DLBCL), arising from B cells of thymic origin, predominantly affecting women between the ages of 20-30, and that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome.",,,,,,,,, +GARD:19590,Active,Orphanet,ORPHA:98839,Disorder,[Disease],Intravascular large B-cell lymphoma,"[Angioendotheliomatosis proliferans systemisata, Angiotropic large cell lymphoma, Intravascular lymphomatosis, Malignant angioendotheliomatosis, Tappeiner-Pfleger disease]","Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.",,,,,,,,, +GARD:19591,Active,Orphanet,ORPHA:98843,Subtype of disorder,[Histopathological subtype],"Classic Hodgkin lymphoma, nodular sclerosis type",,,,,,,,,,, +GARD:19592,Active,Orphanet,ORPHA:98844,Subtype of disorder,[Histopathological subtype],"Classic Hodgkin lymphoma, mixed cellularity type",,,,,,,,,,, +GARD:19593,Active,Orphanet,ORPHA:98845,Subtype of disorder,[Histopathological subtype],"Classic Hodgkin lymphoma, lymphocyte-rich type",,,,,,,,,,, +GARD:19594,Active,Orphanet,ORPHA:98846,Subtype of disorder,[Histopathological subtype],"Classic Hodgkin lymphoma, lymphocyte-depleted type",,,,,,,,,,, +GARD:19595,Active,Orphanet,ORPHA:98848,Disorder,[Disease],Indolent systemic mastocytosis,,"A rare, usually benign, chronic, form of systemic mastocytosis (SM) characterized by an abnormal accumulation of neoplastic mast cells (MCs) mainly in the bone marrow (BM) but also in other organs or tissues such as preferably the skin.",,,,,,,,, +GARD:19596,Active,Orphanet,ORPHA:98849,Disorder,[Disease],Systemic mastocytosis with associated hematologic neoplasm,"[SM-AHN, SM-AHNMD, Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease]","An advanced form of systemic mastocytosis (SM) characterized by the abnormal accumulation of neoplastic mast cells (MCs) in one or more extracutaneous organs, mainly the bone marrow, associated with another hematologic neoplasm of non MC nature.",,,,,,,,, +GARD:19597,Active,Orphanet,ORPHA:98850,Disorder,[Disease],Aggressive systemic mastocytosis,,"A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm.",,,,,,,,, +GARD:19598,Active,Orphanet,ORPHA:98851,Disorder,[Disease],Mast cell leukemia,,"A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow).",,,,,,,,, +GARD:19599,Active,Orphanet,ORPHA:98888,Group of disorders,[Clinical group],X-linked complex spastic paraplegia,"[Complex X-linked HSP, Complex X-linked SPG, Complicated X-linked HSP, Complicated X-linked SPG, X-linked complicated spastic paraplegia]",,,,,,,,,, +GARD:196,Legacy,GARD,,,,,,,,,,,,St Anthony's fire,TRUE,FALSE,Active +GARD:19600,Active,Orphanet,ORPHA:98910,Group of disorders,[Clinical group],Alpha-crystallinopathy,[CRYAB-related myofobrillar myopathy],,,,,,,,,, +GARD:19601,Active,Orphanet,ORPHA:98917,Disorder,[Disease],Acute motor and sensory axonal neuropathy,"[AMSAN, Acute motor-sensory axonal GBS, Acute motor-sensory axonal Guillain-Barré syndrome]","A rare motor-sensory, axonal form of Guillain-Barré syndrome (GBS).",,,,,,,,, +GARD:19602,Active,Orphanet,ORPHA:98918,Disorder,[Disease],Acute motor axonal neuropathy,"[AMAN, Acute pure motor GBS, Acute pure motor Guillain-Barré syndrome]",A rare pure motor axonal form of Guillain-Barré syndrome (GBS).,,,,,,,,, +GARD:19603,Active,Orphanet,ORPHA:98922,Disorder,[Morphological anomaly],Blake pouch cyst,,"Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.",,,,,,,,, +GARD:19604,Active,Orphanet,ORPHA:98933,Subtype of disorder,[Clinical subtype],"Multiple system atrophy, parkinsonian type","[MSA, parkinsonian type, MSA-p]","Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).",,,,,,,,, +GARD:19605,Active,Orphanet,ORPHA:98946,Disorder,[Morphological anomaly],Coloboma of eyelid,,"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral, symmetrical or asymmetrical, partial or full thickness defect of the superior or inferior eyelid margin, ranging in size from a small notch to complete absence of the entire lid, typically located on the medial to lateral third of the eyelid, resulting in an unprotected cornea and thus possibly leading to exposure keratopathy and vision impairment. It may occur isolated, be associated with other ocular defects or be part of a craniofacial syndrome, such as Treacher-Collins or Goldenhar syndrome.",,,,,,,,, +GARD:19606,Active,Orphanet,ORPHA:98948,Subtype of disorder,[Clinical subtype],Congenital symblepharon,,,,,,,,,,, +GARD:19607,Active,Orphanet,ORPHA:98950,Subtype of disorder,[Clinical subtype],Partial cryptophthalmia,,,,,,,,,,, +GARD:19608,Active,Orphanet,ORPHA:98951,Subtype of disorder,[Clinical subtype],Inverse Marcus-Gunn phenomenon,,Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.,,,,,,,,, +GARD:19609,Active,Orphanet,ORPHA:98958,Disorder,[Disease],Climatic droplet keratopathy,[Honey-droplet corneal dystrophy],"A rare superficial corneal dystrophy characterized by progressive opacity of the most anterior corneal layers. Slit-lamp examination reveals typical confluent translucent subepithelial deposits, extending in size and growing into clusters of golden droplets covering the cornea with disease progression. Patients present variably compromised visual acuity, depending on the stage of the disease. In advanced stages, decreased corneal sensation may lead to corneal trophic changes, perforation, and permanent visual loss.",,,,,,,,, +GARD:19610,Active,Orphanet,ORPHA:98975,Disorder,[Disease],Congenital hereditary endothelial dystrophy type I,"[Autosomal dominant CHED, Autosomal dominant congenital hereditary endothelial dystrophy, CHED1, CHEDI, Congenital hereditary endothelial dystrophy type 1]","A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.",,,,,,,,, +GARD:19611,Active,Orphanet,ORPHA:98981,Subtype of disorder,[Clinical subtype],Essential iris atrophy,,"A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.",,,,,,,,, +GARD:19612,Active,Orphanet,ORPHA:99003,Disorder,[Disease],Multifocal pattern dystrophy simulating fundus flavimaculatus,[Multifocal pattern dystrophy simulating Stargardt disease],"A rare, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.",,,,,,,,, +GARD:19613,Active,Orphanet,ORPHA:99004,Disorder,[Disease],Fundus pulverulentus,,"Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.",,,,,,,,, +GARD:19614,Active,Orphanet,ORPHA:99042,Subtype of disorder,[Clinical subtype],Congenitally uncorrected transposition of the great arteries with coarctation,"[Congenitally uncorrected transposition of the great vessels with coarctation, TGA with coarctation]",,,,,,,,,, +GARD:19615,Active,Orphanet,ORPHA:99043,Subtype of disorder,[Clinical subtype],Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis,"[DORV with subaortic or doubly committed VSD with pulmonary stenosis, DORV, Fallot type, Double outlet right ventricle, Fallot type]",,,,,,,,,, +GARD:19616,Active,Orphanet,ORPHA:99045,Subtype of disorder,[Clinical subtype],Double outlet right ventricle with subpulmonary ventricular septal defect,"[DORV with subpulmonary VSD, DORV-TGA, Double outlet right ventricle with transposition of the great arteries, Taussig-Bing syndrome]",,,,,,,,,, +GARD:19617,Active,Orphanet,ORPHA:99046,Subtype of disorder,[Clinical subtype],Double outlet right ventricle with non-committed subpulmonary ventricular septal defect,[DORV with non-committed subpulmonary VSD],,,,,,,,,, +GARD:19618,Active,Orphanet,ORPHA:99048,Disorder,[Malformation syndrome],Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome,"[APV/PDA, non-Fallot type]","A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve, and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate), may be present.",,,,,,,,, +GARD:19619,Active,Orphanet,ORPHA:99049,Disorder,[Morphological anomaly],Pulmonary artery coming from patent ductus arteriosus,,"Pulmonary artery coming from patent ductus arteriosus is a rare, congenital, non-syndromic heart malformation characterized by the presence of a single (or a double) patent ductus arteriosus which associates one or both pulmonary arteries originating from it. Manifestations are variable, frequently presenting with neonatal cyanosis, severe progressive hypoxia, persistent pulmonary hypertension, increased susceptibility to pulmonary infections, and thoracic asymmetry resulting from asymmetric lung volumes.",,,,,,,,, +GARD:19620,Active,Orphanet,ORPHA:99052,Subtype of disorder,[Clinical subtype],Discrete fibromuscular subaortic stenosis,,,,,,,,,,, +GARD:19621,Active,Orphanet,ORPHA:99053,Subtype of disorder,[Clinical subtype],Tunnel subaortic stenosis,,,,,,,,,,, +GARD:19622,Active,Orphanet,ORPHA:99054,Subtype of disorder,[Clinical subtype],Valvular pulmonary stenosis,,,,,,,,,,, +GARD:19623,Active,Orphanet,ORPHA:99055,Disorder,[Morphological anomaly],Congenital anomaly of the tricuspid valve chordae,"[Congenital anomaly of tricuspid chordae tendineae, Congenital anomaly of tricuspid tendinous chords]","A rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.",,,,,,,,, +GARD:19624,Active,Orphanet,ORPHA:99056,Disorder,[Morphological anomaly],Parachute tricuspid valve,,"Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.",,,,,,,,, +GARD:19625,Active,Orphanet,ORPHA:99058,Disorder,[Morphological anomaly],Hypoplasia of the mitral valve annulus,,"A rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.",,,,,,,,, +GARD:19626,Active,Orphanet,ORPHA:99059,Disorder,[Morphological anomaly],Congenital supravalvular mitral ring,,"Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.",,,,,,,,, +GARD:19627,Active,Orphanet,ORPHA:99060,Disorder,[Morphological anomaly],Congenital unguarded mitral orifice,,"Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.",,,,,,,,, +GARD:19628,Active,Orphanet,ORPHA:99061,Disorder,[Morphological anomaly],Accessory mitral valve tissue,,"A congenital non-syndromic heart malformation characratized by an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.",,,,,,,,, +GARD:19629,Active,Orphanet,ORPHA:99062,Disorder,[Morphological anomaly],Mitral valve agenesis,,"Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.",,,,,,,,, +GARD:19630,Active,Orphanet,ORPHA:99063,Disorder,[Malformation syndrome],Shone complex,,"Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated.",,,,,,,,, +GARD:19631,Active,Orphanet,ORPHA:99064,Subtype of disorder,[Clinical subtype],Straddling and/or overriding mitral valve,,"A rare, congenital, non-syndromic heart malformation characterized by an abnormal attachment of the mitral chordae to both ventricles. Straddling mitral valve is usually associated with conotruncal anomalies, most commonly double outlet right ventricle or transposition of the great arteries. Overriding mitral valve is characterized by a mitral annulus committed to the two ventricular chambers, where the mitral valve is shared between the ventricles. Straddling and overriding mitral valve can occur together or in isolation.",,,,,,,,, +GARD:19632,Active,Orphanet,ORPHA:99070,Subtype of disorder,[Clinical subtype],Aorto-right ventricular tunnel,,,,,,,,,,, +GARD:19633,Active,Orphanet,ORPHA:99071,Subtype of disorder,[Clinical subtype],Aorto-left ventricular tunnel,,,,,,,,,,, +GARD:19634,Active,Orphanet,ORPHA:99072,Disorder,[Morphological anomaly],Congenital patent ductus arteriosus aneurysm,,"A rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.",,,,,,,,, +GARD:19635,Active,Orphanet,ORPHA:99075,Disorder,[Morphological anomaly],Encircling double aortic arch,,"Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.",,,,,,,,, +GARD:19636,Active,Orphanet,ORPHA:99076,Disorder,[Morphological anomaly],Persistent fifth aortic arch,,"A rare, congenital anomaly of the great arteries characterized by an extrapericardial vessel arising from the ascending aorta proximal to the brachiocephalic artery and terminating either in the dorsal aorta or in pulmonary arteries via a persistently patent arterial duct. The resulting connection is a systemic-to-systemic or systemic-to-pulmonary. Clinical manifestation include exercise intolerance, reduced femoral pulses, cyanosis with or without pulmonary hypertension and heart failure. Other congenital cardiovascular anomalies are often present and influence the clinical presentation.",,,,,,,,, +GARD:19637,Active,Orphanet,ORPHA:99077,Disorder,[Morphological anomaly],Kommerell diverticulum,,"Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.",,,,,,,,, +GARD:19638,Active,Orphanet,ORPHA:99078,Disorder,[Morphological anomaly],Neuhauser anomaly,,"Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).",,,,,,,,, +GARD:19639,Active,Orphanet,ORPHA:99079,Disorder,[Morphological anomaly],Cervical aortic arch,,"A rare, congenital anomaly of the great arteries characterized by cranially situated aortic arch ascending into the neck above the clavicles. Most patients remain asymptomatic, some present with a murmur and a pulsatile neck mass, stridor, dyspnea, recurrent bronchitis, dysphagia or signs and symptoms of a stenosis/aneurism of the aortic arch. Other congenital heart anomalies are frequently associated, including abnormalities of arch laterality and branching, aortic coarctation or aneurysm.",,,,,,,,, +GARD:19640,Active,Orphanet,ORPHA:99081,Disorder,[Morphological anomaly],Right aortic arch,,,,,,,,,,, +GARD:19641,Active,Orphanet,ORPHA:99082,Disorder,[Morphological anomaly],Dysphagia lusoria,,"A rare aortic arch defect characterized by variable degrees of dysphagia due to compression of the esophagus from an aberrant right subclavian artery (arteria lusoria), which arises as the fourth branch, distal to the left subclavian artery, from the aortic arch. In most cases, the aberrant vessel then passes posterior to the esophagus, less frequently between the trachea and esophagus, or anterior to the trachea. Children may also present with stridor and recurrent chest infections.",,,,,,,,, +GARD:19642,Active,Orphanet,ORPHA:99083,Disorder,[Morphological anomaly],Pulmonary artery hypoplasia,"[PAH, Unilateral Pulmonary Artery Hypoplasia]","A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, shortness of breath, including recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia.",,,,,,,,, +GARD:19643,Active,Orphanet,ORPHA:99087,Disorder,[Morphological anomaly],Coronary ostial stenosis or atresia,"[COSA, Congenital coronary arterial orifice stenosis or atresia, Congenital stenosis or atresia of a coronary ostium]","A rare coronary artery congenital malformation characterized by congenital, partial or total occlusion of the left or right coronary artery orifice, associated with hypoplasia of the proximal segment of the corresponding coronary artery. It may present with failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, myocardial ischemia and/or sudden death.",,,,,,,,, +GARD:19644,Active,Orphanet,ORPHA:99089,Disorder,[Morphological anomaly],Abnormal number of coronary ostia,,"A rare, congenital, non-syndromic heart malformation characterized by more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography.",,,,,,,,, +GARD:19645,Active,Orphanet,ORPHA:99090,Disorder,[Morphological anomaly],Malposition of a coronary ostium,,"A rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.",,,,,,,,, +GARD:19646,Active,Orphanet,ORPHA:99094,Disorder,[Morphological anomaly],Laubry-Pezzi syndrome,"[VSD with aortic insufficiency, Ventricular septal defect with aortic insufficiency]","Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.",,,,,,,,, +GARD:19647,Active,Orphanet,ORPHA:99095,Disorder,[Morphological anomaly],Congenital Gerbode defect,[Left ventricular-to-right atrial communication],"A rare, congenital non-syndromic heart malformation characterized by an abnormal shunting between the left ventricle and right atrium. The clinical manifestation varies, depending on the volume of the shunt. Small congenital shunts are usually asymptomatic or associated with dyspnea and fever, whereas larger shunts often present with chest pain, fatigue, weakness, lower extremity edema, and sometimes heart failure and death. Other congenital heart anomalies may be associated.",,,,,,,,, +GARD:19648,Active,Orphanet,ORPHA:99100,Disorder,[Morphological anomaly],Juxtaposition of the atrial appendages,[Juxtaposition of the atrial auricles],"Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.",,,,,,,,, +GARD:19649,Active,Orphanet,ORPHA:99101,Disorder,[Morphological anomaly],Ectasia of the right atrial appendage,"[Dilatation of the right atrial appendage, Dilatation of the right atrial auricle, Ectasia of the right atrial auricle]","Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.",,,,,,,,, +GARD:19650,Active,Orphanet,ORPHA:99102,Disorder,[Morphological anomaly],Ectasia of the left atrial appendage,"[Dilatation of the left atrial appendage, Dilatation of the left auricle, Ectasia of the left auricle]","Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.",,,,,,,,, +GARD:19651,Active,Orphanet,ORPHA:99107,Disorder,[Morphological anomaly],Atrial septal aneurysm,,"A rare congenital non-syndromic heart malformation characterized by an abnormal protrusion of the interatrial septum into the right or left atrium, or both, during the cardiorespiratory cycle. The defect may be limited to the fossa ovalis or involve the entire septum. It can present as an isolated finding but is more often associated with interatrial shunts, in particular patent foramen ovale. Clinically it increases the risk of peripheral arterial embolism and stroke.",,,,,,,,, +GARD:19652,Active,Orphanet,ORPHA:99109,Disorder,[Morphological anomaly],Persistent left superior vena cava connecting through coronary sinus to left-sided atrium,[Persistent left SVC connecting through coronary sinus to left-sided atrium],"A rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.",,,,,,,,, +GARD:19653,Active,Orphanet,ORPHA:99110,Disorder,[Morphological anomaly],Right superior vena cava connecting to left-sided atrium,"[Right SVC connecting to left-sided atrium, Right superior caval vein connecting to left-sided atrium]","A rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.",,,,,,,,, +GARD:19654,Active,Orphanet,ORPHA:99111,Disorder,[Morphological anomaly],Persistent left superior vena cava connecting to the roof of left-sided atrium,"[Persistent left SVC connecting to left-sided atrium, Persistent left SVC connecting to the roof of left-sided atrium, Persistent left superior vena cava connecting to left-sided atrium]","A rare congenital anomaly of superior vena cava characterized by a persistent left superior vena cava that drains into the left atrium through a direct connection to its roof, creating a right-to-left shunt. Patients are at risk of developing chronic hypoxia, decreased exercise tolerance, cyanosis, embolic cerebrovascular events, and heart failure.",,,,,,,,, +GARD:19655,Active,Orphanet,ORPHA:99112,Disorder,[Morphological anomaly],Absence of innominate vein,[Absence of brachiocephalic vein],"A rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.",,,,,,,,, +GARD:19656,Active,Orphanet,ORPHA:99113,Disorder,[Morphological anomaly],Subaortic course of innominate vein,[Subaortic course of brachiocephalic vein],"Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.",,,,,,,,, +GARD:19657,Active,Orphanet,ORPHA:99114,Disorder,[Morphological anomaly],Agenesis of the superior vena cava,"[Absence of the SVC, Absence of the superior caval vein, Absence of the superior vena cava, Agenesis of the SVC, Agenesis of the superior caval vein]","A rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the superior vena cava (SVC). Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.",,,,,,,,, +GARD:19658,Active,Orphanet,ORPHA:99117,Disorder,[Morphological anomaly],Coronary sinus stenosis,,"A rare congenital anomaly of the coronary sinus characterized by its stenosis at the ostium, lumen, or origin, typically leading to dilation of the vessel. Symptoms are variable and can include palpitations, tachypnea, dyspnea, chest pain, fatigue, and cyanosis. The malformation may be associated with other cardiac anomalies, such as coronary artery-coronary sinus fistula, unroofed coronary sinus, atrial septal defect, coronary sinus-left atrium fistula, total anomalous pulmonary venous connection, and ventricular septal defect.",,,,,,,,, +GARD:19659,Active,Orphanet,ORPHA:99118,Disorder,[Morphological anomaly],Coronary sinus atresia,,,,,,,,,,, +GARD:19660,Active,Orphanet,ORPHA:99119,Disorder,[Morphological anomaly],Right inferior vena cava connecting to left-sided atrium,"[Right IVC connecting to left-sided atrium, Right inferior caval vein connecting to left-sided atrium]","A rare vascular anomaly characterized by a congenital anomalous connection between the inferior vena cava and the left atrium. Clinical manifestations depend on the presence and nature of additional cardiac defects and include cyanosis, dyspnea, failure to thrive, clubbing of fingers and toes, and potentially heart failure.",,,,,,,,, +GARD:19661,Active,Orphanet,ORPHA:99120,Disorder,[Morphological anomaly],Persistent eustachian valve,,"Persistent eustachian valve is a rare congenital anomaly of the inferior vena cava characterized by the postnatal presence of an eustachian valve remnant, which may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, infective endocarditis, and when combined with persistent foramen ovale, it may generate permanent right-to-left shunt.",,,,,,,,, +GARD:19662,Active,Orphanet,ORPHA:99121,Disorder,[Morphological anomaly],Azygos continuation of the inferior vena cava,"[Azygos continuation of the IVC, Azygos continuation of the inferior caval vein, Inferior vena cava interruption with azygos continuation]","A rare vascular anomaly characterized by absence of the hepatic segment of the inferior vena cava and presence of an enlarged azygos vein (or in rare cases hemiazygos vein, if there is a left-sided inferior vena cava) draining the venous blood from the caudal segments. The post-hepatic segment of the inferior vena cava is present, draining only the hepatic veins into the right atrium. Most patients remain asymptomatic, if the anomaly is isolated. Association with congenital heart disease and asplenia or polysplenia syndromes has been reported.",,,,,,,,, +GARD:19663,Active,Orphanet,ORPHA:99122,Disorder,[Morphological anomaly],Congenital stenosis of the inferior vena cava,"[Congenital stenosis of the IVC, Congenital stenosis of the inferior caval vein]","A rare vascular anomaly characterized by congenital narrowing of the inferior vena cava mostly at the diaphragmatic level or hepatic segment, with or without web formation. Patients may present with deep vein thrombosis below the obstructed segment as well as swelling, pain, and varices of the lower extremities, abdominal pain/varices, or hematochezia. Presence of collateral veins between upper and lower segments of the stenosis, as well as venous aneurysms are typical associated findings.",,,,,,,,, +GARD:19664,Active,Orphanet,ORPHA:99123,Disorder,[Morphological anomaly],Inferior vena cava interruption without azygos continuation,"[IVC interruption, Inferior caval vein interruption]","A rare congenital anomaly of the inferior vena cava characterized by complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices, and hematochezia, among others. Additional venous abnormalities or cardiac malformations are frequently present.",,,,,,,,, +GARD:19665,Active,Orphanet,ORPHA:99124,Disorder,[Morphological anomaly],Congenital partial pulmonary venous return anomaly,,"A form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.",,,,,,,,, +GARD:19666,Active,Orphanet,ORPHA:99129,Disorder,[Morphological anomaly],Congenital complete agenesis of pericardium,,"Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.",,,,,,,,, +GARD:19667,Active,Orphanet,ORPHA:99130,Disorder,[Morphological anomaly],Congenital partial agenesis of pericardium,,"Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.",,,,,,,,, +GARD:19668,Active,Orphanet,ORPHA:99131,Disorder,[Morphological anomaly],Pleuro-pericardial cyst,,"Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.",,,,,,,,, +GARD:19669,Active,Orphanet,ORPHA:99138,Disorder,[Disease],Hemolytic anemia due to erythrocyte adenosine deaminase overproduction,,"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.",,,,,,,,, +GARD:19670,Active,Orphanet,ORPHA:99139,Disorder,[Disease],Unstable hemoglobin disease,,"A rare hemoglobinopathy characterized by variable degrees of hemolytic anemia, depending on the nature of the hemoglobin variant. In symptomatic patients, clinical manifestations are jaundice, splenomegaly, and, in patients with severe anemia, pallor. Additional features include reticulocytosis, presence of Heinz bodies, and pigmenturia.",,,,,,,,, +GARD:19671,Active,Orphanet,ORPHA:99169,Disorder,[Morphological anomaly],Epiblepharon,,"A rare eyelid malposition disorder characterized by a horizontal fold consisting of redundant skin and underlying pretarsal orbicularis muscle overriding the eyelid margin and causing inward rotation of the eyelashes with potential irritation of the ocular surface. Patients may be asymptomatic or experience foreign body sensation, constant watering, itching, and redness of the eyes. Complications include repeated infections and corneal erosion. The condition is usually bilateral and more commonly affects the lower eyelids.",,,,,,,,, +GARD:19672,Active,Orphanet,ORPHA:99170,Disorder,[Morphological anomaly],Tarsal kink syndrome,,Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.,,,,,,,,, +GARD:19673,Active,Orphanet,ORPHA:99171,Disorder,[Morphological anomaly],Isolated congenital ectropion,,"Isolated congenital ectropion is a rare ocular disease characterized by congenital, unilateral or bilateral, lower or upper eyelid malposition with eversion of the margin due to a vertical shortage of skin, leading to exposure of the conjunctiva and sometimes the cornea. Chronic epiphora and exposure keratitis may be observed in severe cases.",,,,,,,,, +GARD:19674,Active,Orphanet,ORPHA:99172,Disorder,[Morphological anomaly],Euryblepharon,,"Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus; see this term) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome, see this term). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.",,,,,,,,, +GARD:19675,Active,Orphanet,ORPHA:99176,Disorder,[Morphological anomaly],Congenital eyelid retraction,,"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.",,,,,,,,, +GARD:19676,Active,Orphanet,ORPHA:99226,Subtype of disorder,[Etiological subtype],Monosomy X,,,,,,,,,,, +GARD:19677,Active,Orphanet,ORPHA:99228,Subtype of disorder,[Etiological subtype],Mosaic monosomy X,,,,,,,,,,, +GARD:19678,Active,Orphanet,ORPHA:99324,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 13,[UPD(13)pat],Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.,,,,,,,,, +GARD:19679,Active,Orphanet,ORPHA:99330,Disorder,[Malformation syndrome],"49,XYYYY syndrome",,"A rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.",,,,,,,,, +GARD:19680,Active,Orphanet,ORPHA:99408,Group of disorders,[Clinical group],Pituitary adenoma,,,,,,,,,,, +GARD:19681,Active,Orphanet,ORPHA:99413,Subtype of disorder,[Etiological subtype],Turner syndrome due to structural X chromosome anomalies,,,,,,,,,,, +GARD:19682,Active,Orphanet,ORPHA:99647,Disorder,[Disease],Cheirospondyloenchondromatosis,[Generalized enchondromatosis with platyspondyly],"Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.",,,,,,,,, +GARD:19683,Active,Orphanet,ORPHA:99688,Disorder,[Malformation syndrome],Dermotrichic syndrome,,"Dermotrichic syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.",,,,,,,,, +GARD:19684,Active,Orphanet,ORPHA:99701,Disorder,[Disease],Mesial temporal lobe epilepsy with hippocampal sclerosis,"[HS-MTLE, Hippocampal sclerosis-related mesial temporal lobe epilepsy, MTLE-HS]","Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.",,,,,,,,, +GARD:19685,Active,Orphanet,ORPHA:99704,Disorder,[Disease],Early-onset obesity-hyperphagia-severe developmental delay syndrome,[OBHD],,,,,,,,,, +GARD:19686,Active,Orphanet,ORPHA:99739,Group of disorders,[Category],Rare familial disorder with hypertrophic cardiomyopathy,"[Rare familial disorder with hypertrophic obstructive cardiomyopathy, Rare familial disorder with hypertrophic subaortic stenosis]",,,,,,,,,, +GARD:19687,Active,Orphanet,ORPHA:99771,Disorder,[Morphological anomaly],Bifid uvula,"[Bifidity of the uvula, Uvular cleft]",Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.,,,,,,,,, +GARD:19688,Active,Orphanet,ORPHA:99824,Disorder,[Disease],Lassa fever,"[LF, Lassa hemorrhagic fever]","Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure.",,,,,,,,, +GARD:19689,Active,Orphanet,ORPHA:99825,Disorder,[Disease],Nipah virus disease,"[Nipah encephalitis, Nipah fever]","Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.",,,,,,,,, +GARD:19690,Active,Orphanet,ORPHA:99827,Disorder,[Disease],Crimean-Congo hemorrhagic fever,"[CCHF, Congo fever, Congo hemorrhagic fever, Crimean hemorrhagic fever]","Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.",,,,,,,,, +GARD:19691,Active,Orphanet,ORPHA:99856,Disorder,[Morphological anomaly],Primary syringomyelia,[Congenital syringomyelia],"A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities.",,,,,,,,, +GARD:19692,Active,Orphanet,ORPHA:99857,Disorder,[Disease],Secondary syringomyelia,,"Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.",,,,,,,,, +GARD:19693,Active,Orphanet,ORPHA:99858,Subtype of disorder,[Clinical subtype],Idiopathic syringomyelia,,"Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.",,,,,,,,, +GARD:19694,Active,Orphanet,ORPHA:99861,Disorder,[Disease],Precursor T-cell acute lymphoblastic leukemia,"[Precursor T-cell acute lymphoblastic leukemia/lymphoma, Precursor T-cell acute lymphocytic leukemia, Precursor T-cell acute lymphocytic leukemia/lymphoma, T-ALL]","A rare acute lymphoblastic leukemia characterized by a neoplasm of lymphoblasts committed to the T-cell lineage, involving bone marrow and blood. A value of >25% bone marrow blasts may be used to define leukemia (as opposed to lymphoma) in cases with the presence of a mass lesion in addition to bone marrow involvement. Patients typically present with leukocytosis, and frequently with a large mediastinal or other tissue mass. Lymphadenopathy and hepatosplenomegaly are common.",,,,,,,,, +GARD:19695,Active,Orphanet,ORPHA:99868,Disorder,[Disease],Thymic carcinoma,[Malignant thymoma],Thymic carcinoma (TC) is a type of thymic epithelial neoplasm (see this term) characterized by a high malignant potential.,,,,,,,,, +GARD:19696,Active,Orphanet,ORPHA:99869,Disorder,[Disease],Thymic neuroendocrine carcinoma,,Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm (see this term) displaying evidence of neuroendocrine differentiation.,,,,,,,,, +GARD:19697,Active,Orphanet,ORPHA:99887,Subtype of disorder,[Clinical subtype],Acute megakaryoblastic leukemia in Down syndrome,[DS-AMKL],,,,,,,,,, +GARD:19698,Active,Orphanet,ORPHA:99889,Disorder,[Disease],Cushing syndrome due to ectopic ACTH secretion,"[Adrenocorticotropic hormone secretion syndrome, Ectopic ACTH secreting tumor, Ectopic Cushing syndrome, Occult ectopic ACTH secretion, Paraneoplastic Cushing syndrome]","Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome (see this term) caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.",,,,,,,,, +GARD:19699,Active,Orphanet,ORPHA:99892,Group of disorders,[Clinical group],ACTH-dependent Cushing syndrome,"[ACTH-dependent CS, Adrenocorticotropic hormone-dependent Cushing syndrome, Corticotropin-dependent Cushing syndrome]","A form of endogenous Cushing syndrome (CS) caused by abnormal production of ACTH due, in 80% of cases, to adrenocorticotropic hormone (ACTH) oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).",,,,,,,,, +GARD:19700,Active,Orphanet,ORPHA:99893,Group of disorders,[Clinical group],ACTH-independent Cushing syndrome,"[Adrenal Cushing syndrome, Adrenocorticotropic hormone-independent Cushing syndrome, Corticotropin-independent Cushing syndrome]","A form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).",,,,,,,,, +GARD:19701,Active,Orphanet,ORPHA:99903,Subtype of disorder,[Etiological subtype],Spirillary rat-bite fever,[Sodoku],"Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the Gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.",,,,,,,,, +GARD:19702,Active,Orphanet,ORPHA:99905,Subtype of disorder,[Etiological subtype],Streptobacillary rat-bite fever,,Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic Gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.,,,,,,,,, +GARD:19703,Active,Orphanet,ORPHA:99907,Disorder,[Disease],House allergic alveolitis,,"House allergic alveolitis is a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis (see this term).",,,,,,,,, +GARD:19704,Active,Orphanet,ORPHA:99909,Group of disorders,[Clinical group],Occupational allergic alveolitis,,"Occupational allergic alveolitis designates a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise",,,,,,,,, +GARD:19705,Active,Orphanet,ORPHA:99912,Disorder,[Disease],Malignant dysgerminomatous germ cell tumor of the ovary,"[Dysgerminomatous germ cell cancer of the ovary, Malignant ovarian dysgerminoma]","A form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts).",,,,,,,,, +GARD:19706,Active,Orphanet,ORPHA:99913,Group of disorders,[Category],Extragonadal non-dysgerminomatous germ cell tumor,,,,,,,,,,, +GARD:19707,Active,Orphanet,ORPHA:99915,Disorder,[Disease],Maligant granulosa cell tumor of the ovary,"[Granulosa cell cancer, Granulosa cell malignant tumor]","A rare malignant sex cord stromal tumor of ovary arising from the granulosa cells of the ovary, which occurs in peri and post menopausal women, and that presents with abnormal vaginal bleeding, abdominal pain and distension. The tumor is frequently unilateral, estrogen secreting, and has a slow natural history and a tendency to relapse long after the initial diagnosis.",,,,,,,,, +GARD:19708,Active,Orphanet,ORPHA:99917,Disorder,[Disease],"Theca steroid-producing cell malignant tumor of ovary, not further specified","[Theca (steroid-producing) cell cancer, not further specified]","A rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.",,,,,,,,, +GARD:19709,Active,Orphanet,ORPHA:99918,Subtype of disorder,[Etiological subtype],Streptococcal toxic-shock syndrome,[Streptococcal TSS],"Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.",,,,,,,,, +GARD:19710,Active,Orphanet,ORPHA:99919,Subtype of disorder,[Etiological subtype],Staphylococcal toxic-shock syndrome,[Staphylococcal TSS],"Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.",,,,,,,,, +GARD:19711,Active,Orphanet,ORPHA:99925,Disorder,[Disease],Invasive mole,,"A form of gestational trophoblastic neoplasia similar to a hydatidiform mole but with deep invasion into the myometriumand histologically characterized hyperplasia of trophoblasts, generalized cystic degeneration of chorionic villi and the presence of molar villi in the myometrium and/ or uterine blood vessels. Indicative signs include persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after evacuation of a hydatidiform mole. Metastases (in the lungs or vagina) may be observed.",,,,,,,,, +GARD:19712,Active,Orphanet,ORPHA:99926,Disorder,[Disease],Gestational choriocarcinoma,,"A form of gestational trophoblastic neoplasia characterized histologically by trophoblast proliferation, absence of chorionic villi (except in cases of intraplacental choriocarcinoma) and tissue necrosis with bleeding. The tumor occurs secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. Indicative signs are persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after removal of a hydatidiform mole; persistent unexplained metrorrhagia following spontaneous abortion or VTP; occasionally unexplained metrorrhagia in the weeks or months following normal childbirth or an ectopic pregnancy. Occasionally, metastases (lung, liver, brain, kidneys, vagina) are indicative signs in women of childbearing age.",,,,,,,,, +GARD:19713,Active,Orphanet,ORPHA:99930,Disorder,[Disease],Secondary pulmonary hemosiderosis,,"Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome (see this term), autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography",,,,,,,,, +GARD:19714,Active,Orphanet,ORPHA:99932,Subtype of disorder,[Clinical subtype],Heiner syndrome,[Cow's milk hypersensitivity],"Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis (see this term), digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.",,,,,,,,, +GARD:19715,Active,Orphanet,ORPHA:99933,Subtype of disorder,[Clinical subtype],Pleuropulmonary blastoma type 1,,,,,,,,,,, +GARD:19716,Active,Orphanet,ORPHA:99934,Subtype of disorder,[Clinical subtype],Pleuropulmonary blastoma type 2,,,,,,,,,,, +GARD:19717,Active,Orphanet,ORPHA:99935,Subtype of disorder,[Clinical subtype],Pleuropulmonary blastoma type 3,,,,,,,,,,, +GARD:19718,Active,Orphanet,ORPHA:99965,Disorder,[Disease],O'Sullivan-McLeod syndrome,,A rare acquired motor neuron disease characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.,,,,,,,,, +GARD:19719,Active,Orphanet,ORPHA:99969,Subtype of disorder,[Histopathological subtype],Pleomorphic liposarcoma,[PLS],"Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS; see this term), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma (see these terms).",,,,,,,,, +GARD:19720,Active,Orphanet,ORPHA:99970,Subtype of disorder,[Histopathological subtype],Dedifferentiated liposarcoma,[DDLS],"Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS; see this term) that progresses from well-differentiated liposarcoma (WDLS; see this term), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. .",,,,,,,,, +GARD:19721,Active,Orphanet,ORPHA:99971,Subtype of disorder,[Histopathological subtype],Well-differentiated liposarcoma,"[ALT, Atypical lipoma, Atypical lipomatous tumor, WDLS]","Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes.",,,,,,,,, +GARD:19722,Active,Orphanet,ORPHA:99981,Disorder,[Disease],Apnea of prematurity,,"A developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.",,,,,,,,, +GARD:19723,Active,Orphanet,ORPHA:99983,Group of disorders,[Category],Cutaneous myiasis,,,,,,,,,,, +GARD:19724,Active,Orphanet,ORPHA:99989,Disorder,[Disease],Intermediate DEND syndrome,"[Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form]","A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and is characterized clinically by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy.",,,,,,,,, +GARD:19725,Active,Orphanet,ORPHA:99990,Subtype of disorder,[Clinical subtype],Brill-Zinsser disease,"[Brill disease, Recrudescent typhus]",,,,,,,,,, +GARD:19726,Active,Orphanet,ORPHA:99991,Subtype of disorder,[Clinical subtype],Relapsing epidemic typhus,,,,,,,,,,, +GARD:19727,Active,Orphanet,ORPHA:99994,Subtype of disorder,[Clinical subtype],Complex regional pain syndrome type 2,[Causalgia],"Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia , not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.",,,,,,,,, +GARD:19728,Active,Orphanet,ORPHA:100000,Subtype of disorder,[Clinical subtype],Reticular perineurioma,,,,,,,,,,, +GARD:19729,Active,Orphanet,ORPHA:100001,Subtype of disorder,[Clinical subtype],Sclerosing perineurioma,,,,,,,,,,, +GARD:19730,Active,Orphanet,ORPHA:100002,Disorder,[Disease],Extraneural perineurioma,[Soft tissue perineurioma],"Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.",,,,,,,,, +GARD:19731,Active,Orphanet,ORPHA:100011,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type A,,"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.",,,,,,,,, +GARD:19732,Active,Orphanet,ORPHA:100012,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type B,,"A form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.",,,,,,,,, +GARD:19733,Active,Orphanet,ORPHA:100013,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type C,,"A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.",,,,,,,,, +GARD:19734,Active,Orphanet,ORPHA:100014,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type D,,"A form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (≤ -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.",,,,,,,,, +GARD:19735,Active,Orphanet,ORPHA:100015,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type E,,"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.",,,,,,,,, +GARD:19736,Active,Orphanet,ORPHA:100016,Disorder,[Malformation syndrome],Lissencephaly with cerebellar hypoplasia type F,,"A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.",,,,,,,,, +GARD:19737,Active,Orphanet,ORPHA:100019,Subtype of disorder,[Clinical subtype],Refractory anemia with excess blasts type 1,[RAEB-1],"A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.",,,,,,,,, +GARD:19738,Active,Orphanet,ORPHA:100020,Subtype of disorder,[Clinical subtype],Refractory anemia with excess blasts type 2,[RAEB-2],"A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.",,,,,,,,, +GARD:19739,Active,Orphanet,ORPHA:100021,Subtype of disorder,[Clinical subtype],Primary plasmacytoma of the bone,,,,,,,,,,, +GARD:19740,Active,Orphanet,ORPHA:100022,Subtype of disorder,[Clinical subtype],Extramedullary soft tissue plasmacytoma,,,,,,,,,,, +GARD:19741,Active,Orphanet,ORPHA:100024,Subtype of disorder,[Clinical subtype],Mu-heavy chain disease,[mu-HCD],A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).,,,,,,,,, +GARD:19742,Active,Orphanet,ORPHA:100025,Subtype of disorder,[Clinical subtype],Alpha-heavy chain disease,"[Alpha-HCD, IPSID, Immunoproliferative small intestinal disease, Mediterranean lymphoma]",A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.,,,,,,,,, +GARD:19743,Active,Orphanet,ORPHA:100035,Disorder,[Disease],Solitary necrotic nodule of the liver,[Hepatic solitary necrotic nodule],"A rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.",,,,,,,,, +GARD:19744,Active,Orphanet,ORPHA:100047,Disorder,[Morphological anomaly],Esophageal duplication cyst,,"A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported.",,,,,,,,, +GARD:19745,Active,Orphanet,ORPHA:100048,Disorder,[Morphological anomaly],Tubular duplication of the esophagus,,"A rare, non-syndromic, congenital esophageal malformation characterized by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood.",,,,,,,,, +GARD:19746,Active,Orphanet,ORPHA:100049,Group of disorders,[Category],Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies,[Primary ILD specific to childhood due to pulmonary surfactant protein anomalies],A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.,,,,,,,,, +GARD:19747,Active,Orphanet,ORPHA:100055,Subtype of disorder,[Clinical subtype],Acquired angioedema type 2,"[AAE 2, AAE II, Acquired angioneurotic edema type 2]","A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",,,,,,,,, +GARD:19748,Active,Orphanet,ORPHA:100056,Subtype of disorder,[Clinical subtype],Acquired angioedema type 1,[Acquired angioneurotic edema type 1],"A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.",,,,,,,,, +GARD:19749,Active,Orphanet,ORPHA:100073,Subtype of disorder,[Clinical subtype],Neurogenic thoracic outlet syndrome,"[NTOS, Neurogenic TOS, Neurogenic cervical rib syndrome, Neurogenic costoclavicular syndrome, Neurogenic thoracic outlet compression syndrome]","Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.",,,,,,,,, +GARD:1975,Active,Orphanet,ORPHA:237,Disorder,[Morphological anomaly],Duplication of urethra,,"A rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.",,,,,,Duplication of urethra,TRUE,FALSE,Active +GARD:19750,Active,Orphanet,ORPHA:100075,Disorder,[Disease],Neuroendocrine tumor of stomach,"[GNET, Gastric NET, Gastric neuroendocrine tumor, NET of stomach]","A rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.",,,,,,,,, +GARD:19751,Active,Orphanet,ORPHA:100076,Group of disorders,[Category],Duodenal neuroendocrine tumor,,,,,,,,,,, +GARD:19752,Active,Orphanet,ORPHA:100077,Group of disorders,[Category],Jejunal neuroendocrine tumor,[Jejunal neuroendocrine neoplasm],"Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.",,,,,,,,, +GARD:19753,Active,Orphanet,ORPHA:100078,Disorder,[Disease],Ileal neuroendocrine tumor,[Ileal neuroendocrine neoplasm],"Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.",,,,,,,,, +GARD:19754,Active,Orphanet,ORPHA:100079,Disorder,[Disease],Neuroendocrine neoplasm of appendix,"[Appendiceal NEN, Appendiceal neuroendocrine neoplasm, NEN of appendix]","Endocrine tumor of the appendix is the most common sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC; see these terms).",,,,,,,,, +GARD:19755,Active,Orphanet,ORPHA:100080,Disorder,[Disease],Neuroendocrine tumor of the colon,"[Colonic NET, NET of the colon, Neuroendocrine neoplasm of the colon]","A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).",,,,,,,,, +GARD:19756,Active,Orphanet,ORPHA:100081,Disorder,[Disease],Neuroendocrine tumor of the rectum,"[NET of the rectum, Rectal NET, Rectal neuroendocrine tumor]","Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.",,,,,,,,, +GARD:19757,Active,Orphanet,ORPHA:100082,Disorder,[Disease],Neuroendocrine tumor of anal canal,[NET of anal canal],"A are epithelial tumor of the anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).",,,,,,,,, +GARD:19758,Active,Orphanet,ORPHA:100083,Disorder,[Disease],Laryngeal neuroendocrine tumor,,"A rare head and neck tumor characterized by an epithelial neoplasm with evidence of neuroendocrine differentiation, typically located in the supraglottic larynx. The tumor can be well, moderately, or poorly differentiated, the latter group being subdivided into small cell or large cell neuroendocrine carcinomas. There is a strong association with tobacco use. Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production. Poorly differentiated tumors are highly aggressive with high rates of regional and distant metastasis.",,,,,,,,, +GARD:19759,Active,Orphanet,ORPHA:100084,Disorder,[Disease],Middle ear neuroendocrine tumor,,"Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis.",,,,,,,,, +GARD:1976,Legacy,GARD,,,,,,,,,,,,Duplication of leg mirror foot,TRUE,FALSE,Active +GARD:19760,Active,Orphanet,ORPHA:100085,Disorder,[Disease],Primary hepatic neuroendocrine carcinoma,,"Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.",,,,,,,,, +GARD:19761,Active,Orphanet,ORPHA:100086,Disorder,[Disease],Gallbladder neuroendocrine tumor,,"A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated.",,,,,,,,, +GARD:19762,Active,Orphanet,ORPHA:100087,Group of disorders,[Category],Thyroid tumor,,,,,,,,,,, +GARD:19763,Active,Orphanet,ORPHA:100088,Group of disorders,[Category],Thyroid carcinoma,,,,,,,,,,, +GARD:19764,Active,Orphanet,ORPHA:100090,Group of disorders,[Category],Rare parathyroid tumor,,,,,,,,,,, +GARD:19765,Active,Orphanet,ORPHA:100091,Group of disorders,[Category],Adrenal/paraganglial tumor,,,,,,,,,,, +GARD:19766,Active,Orphanet,ORPHA:100094,Group of disorders,[Category],Multiple polyglandular tumor,,,,,,,,,,, +GARD:19767,Active,Orphanet,ORPHA:100100,Group of disorders,[Category],Thymic tumor,,,,,,,,,,, +GARD:19768,Active,Orphanet,ORPHA:100101,Group of disorders,[Category],Neuroendocrine tumor with other location,,,,,,,,,,, +GARD:19769,Active,Orphanet,ORPHA:100974,Disorder,[Disease],FRAXF syndrome,,"FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.",,,,,,,,, +GARD:1977,Legacy,GARD,,,,,,,,,,,,Duplication of the thumb unilateral biphalangeal,TRUE,FALSE,Active +GARD:19770,Active,Orphanet,ORPHA:100979,Group of disorders,[Clinical group],Autosomal dominant complex spastic paraplegia,"[Autosomal dominant complex HSP, Autosomal dominant complex SPG, Autosomal dominant complicated HSP, Autosomal dominant complicated SPG, Autosomal dominant complicated spastic paraplegia]",,,,,,,,,, +GARD:19771,Active,Orphanet,ORPHA:100980,Group of disorders,[Clinical group],Autosomal dominant pure spastic paraplegia,"[Autosomal dominant pure HSP, Autosomal dominant pure SPG, Autosomal dominant uncomplicated HSP, Autosomal dominant uncomplicated SPG, Autosomal dominant uncomplicated spastic paraplegia]",,,,,,,,,, +GARD:19772,Active,Orphanet,ORPHA:100981,Group of disorders,[Clinical group],Autosomal recessive complex spastic paraplegia,"[Autosomal recessive complex HSP, Autosomal recessive complex SPG, Autosomal recessive complicated HSP, Autosomal recessive complicated SPG, Autosomal recessive complicated spastic paraplegia]",,,,,,,,,, +GARD:19773,Active,Orphanet,ORPHA:100982,Group of disorders,[Clinical group],Autosomal recessive pure spastic paraplegia,"[Autosomal recessive pure HSP, Autosomal recessive pure SPG, Autosomal recessive uncomplicated HSP, Autosomal recessive uncomplicated SPG, Autosomal recessive uncomplicated spastic paraplegia]",,,,,,,,,, +GARD:19774,Active,Orphanet,ORPHA:101023,Disorder,[Morphological anomaly],Cleft hard palate,,,,,,,,,,, +GARD:19775,Active,Orphanet,ORPHA:101029,Subtype of disorder,[Clinical subtype],Sub-cortical nodular heterotopia,,,,,,,,,,, +GARD:19776,Active,Orphanet,ORPHA:101043,Subtype of disorder,[Clinical subtype],Congenital aortic valve dysplasia,,,,,,,,,,, +GARD:19777,Active,Orphanet,ORPHA:101071,Subtype of disorder,[Clinical subtype],Unilateral hemispheric polymicrogyria,,,,,,,,,,, +GARD:19778,Active,Orphanet,ORPHA:101096,Disorder,[Disease],Aregenerative anemia,,,,,,,,,,, +GARD:19779,Active,Orphanet,ORPHA:101104,Subtype of disorder,[Clinical subtype],Marin-Amat syndrome,,,,,,,,,,, +GARD:19780,Active,Orphanet,ORPHA:101206,Disorder,[Malformation syndrome],Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome,"[APV/ADA, Fallot type, Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome, PVA/ADA, Fallot type]","Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.",,,,,,,,, +GARD:19781,Active,Orphanet,ORPHA:101334,Disorder,[Disease],African tick typhus,,"A rare bacterial infectious disease caused by the tick-borne bacterium Rickettsia africae, characterized by acute onset of fever accompanied by myalgia, localized lymphadenitis, and a papulovesicular rash. In most cases at least one, sometimes multiple, inoculation eschars are observed. Clustering of cases is frequent.",,,,,,,,, +GARD:19782,Active,Orphanet,ORPHA:101435,Group of disorders,[Category],Rare genetic eye disease,[Rare genetic ophthalmologic disease],,,,,,,,,, +GARD:19783,Active,Orphanet,ORPHA:101685,Disorder,[Disease],Rare non-syndromic intellectual disability,[Rare NSID],"Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.",,,,,,,,, +GARD:19784,Active,Orphanet,ORPHA:101932,Disorder,[Morphological anomaly],Anomaly of the mitral subvalvular apparatus,,"A group of rare congenital mitral malformations characterized by anomalies of the chordae tendineae and papillary muscles. This comprises anomalous mitral arcade or hammock valve (due to thickened and extremely short chordae tendineae), straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired left ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.",,,,,,,,, +GARD:19785,Active,Orphanet,ORPHA:101934,Group of disorders,[Category],Genetic cardiac rhythm disease,,,,,,,,,,, +GARD:19786,Active,Orphanet,ORPHA:101936,Group of disorders,[Category],Rare gastroesophageal disease,,,,,,,,,,, +GARD:19787,Active,Orphanet,ORPHA:101937,Group of disorders,[Category],Rare pancreatic disease,,,,,,,,,,, +GARD:19788,Active,Orphanet,ORPHA:101938,Group of disorders,[Category],Rare vascular liver disease,,,,,,,,,,, +GARD:19789,Active,Orphanet,ORPHA:101939,Group of disorders,[Category],Rare parenchymal liver disease,,,,,,,,,,, +GARD:19790,Active,Orphanet,ORPHA:101940,Group of disorders,[Category],Rare metabolic liver disease,,,,,,,,,,, +GARD:19791,Active,Orphanet,ORPHA:101941,Group of disorders,[Category],Rare biliary tract disease,,,,,,,,,,, +GARD:19792,Active,Orphanet,ORPHA:101943,Group of disorders,[Category],Rare hepatic and biliary tract tumor,,,,,,,,,,, +GARD:19793,Active,Orphanet,ORPHA:101944,Group of disorders,[Category],Rare pulmonary disease,,,,,,,,,,, +GARD:19794,Active,Orphanet,ORPHA:101945,Group of disorders,[Category],Rare bronchopulmonary tumor,,,,,,,,,,, +GARD:19795,Active,Orphanet,ORPHA:101950,Group of disorders,[Category],Rare eye tumor,,,,,,,,,,, +GARD:19796,Active,Orphanet,ORPHA:101952,Group of disorders,[Category],Rare diabetes mellitus,,,,,,,,,,, +GARD:19797,Active,Orphanet,ORPHA:101953,Group of disorders,[Category],Rare dyslipidemia,,,,,,,,,,, +GARD:19798,Active,Orphanet,ORPHA:101954,Group of disorders,[Category],Rare adrenal disease,,,,,,,,,,, +GARD:19799,Active,Orphanet,ORPHA:101955,Group of disorders,[Category],Rare thyroid disease,,,,,,,,,,, +GARD:198,Active,Orphanet,ORPHA:83419,Subtype of disorder,[Clinical subtype],Proximal spinal muscular atrophy type 3,"[Juvenile spinal muscular atrophy, Kugelberg-Welander disease, SMA type 3, SMA type III, SMA-III, SMA3]","A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heterogeneous but walking is typically acquired.",[253400],,,,,Spinal muscular atrophy type 3,TRUE,FALSE,Active +GARD:19800,Active,Orphanet,ORPHA:101956,Group of disorders,[Category],Polyendocrinopathy,,,,,,,,,,, +GARD:19801,Active,Orphanet,ORPHA:101957,Group of disorders,[Category],Pituitary deficiency,,,,,,,,,,, +GARD:19802,Active,Orphanet,ORPHA:101958,Group of disorders,[Category],Primary adrenal insufficiency,,,,,,,,,,, +GARD:19803,Active,Orphanet,ORPHA:101959,Group of disorders,[Category],Chronic primary adrenal insufficiency,"[CPAI, Chronic adrenocorticoid insufficiency]",Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.,,,,,,,,, +GARD:19804,Active,Orphanet,ORPHA:101960,Group of disorders,[Category],Genetic chronic primary adrenal insufficiency,,,,,,,,,,, +GARD:19805,Active,Orphanet,ORPHA:101963,Group of disorders,[Category],Acquired chronic primary adrenal insufficiency,,,,,,,,,,, +GARD:19806,Active,Orphanet,ORPHA:101972,Group of disorders,[Clinical group],Combined T and B cell immunodeficiency,,,,,,,,,,, +GARD:19807,Active,Orphanet,ORPHA:101977,Group of disorders,[Category],Immunodeficiency predominantly affecting antibody production,,,,,,,,,,, +GARD:19808,Active,Orphanet,ORPHA:101985,Group of disorders,[Category],Quantitative and/or qualitative congenital phagocyte defect,,,,,,,,,,, +GARD:19809,Active,Orphanet,ORPHA:101987,Group of disorders,[Category],Constitutional neutropenia,,,,,,,,,,, +GARD:19810,Active,Orphanet,ORPHA:101988,Group of disorders,[Category],Primary immunodeficiency due to a defect in innate immunity,,,,,,,,,,, +GARD:19811,Active,Orphanet,ORPHA:101992,Group of disorders,[Category],Immunodeficiency due to a complement cascade protein anomaly,,,,,,,,,,, +GARD:19812,Active,Orphanet,ORPHA:101995,Group of disorders,[Category],Periodic fever syndrome,,,,,,,,,,, +GARD:19813,Active,Orphanet,ORPHA:101997,Group of disorders,[Category],Primary immunodeficiency,,,,,,,,,,, +GARD:19814,Active,Orphanet,ORPHA:101998,Group of disorders,[Category],Rare epilepsy,,,,,,,,,,, +GARD:19815,Active,Orphanet,ORPHA:102000,Group of disorders,[Category],Medullar disease,,,,,,,,,,, +GARD:19816,Active,Orphanet,ORPHA:102002,Group of disorders,[Category],Rare ataxia,,,,,,,,,,, +GARD:19817,Active,Orphanet,ORPHA:102003,Group of disorders,[Category],Rare movement disorder,,,,,,,,,,, +GARD:19818,Active,Orphanet,ORPHA:102005,Group of disorders,[Category],Brain inflammatory disease,,,,,,,,,,, +GARD:19819,Active,Orphanet,ORPHA:102006,Group of disorders,[Category],Neurovascular malformation,,,,,,,,,,, +GARD:19820,Active,Orphanet,ORPHA:102010,Group of disorders,[Category],Other syndrome with lissencephaly as a major feature,,,,,,,,,,, +GARD:19821,Active,Orphanet,ORPHA:102011,Group of disorders,[Clinical group],Lissencephaly type 3,,,,,,,,,,, +GARD:19822,Active,Orphanet,ORPHA:102012,Group of disorders,[Clinical group],Pure hereditary spastic paraplegia,"[Pure HSP, Pure SPG, Pure familial spastic paraplegia, Uncomplicated HSP, Uncomplicated SPG, Uncomplicated familial spastic paraplegia, Uncomplicated hereditary spastic paraplegia]",,,,,,,,,, +GARD:19823,Active,Orphanet,ORPHA:102013,Group of disorders,[Clinical group],Complex hereditary spastic paraplegia,"[Complex HSP, Complex SPG, Complex familial spastic paraplegia, Complicated HSP, Complicated SPG, Complicated familial spastic paraplegia, Complicated hereditary spastic paraplegia]",,,,,,,,,, +GARD:19824,Active,Orphanet,ORPHA:102014,Group of disorders,[Category],Autosomal dominant limb-girdle muscular dystrophy,,,,,,,,,,, +GARD:19825,Active,Orphanet,ORPHA:102015,Group of disorders,[Category],Autosomal recessive limb-girdle muscular dystrophy,,,,,,,,,,, +GARD:19826,Active,Orphanet,ORPHA:102020,Group of disorders,[Category],Autosomal monosomy,[Autosomal deletion],,,,,,,,,, +GARD:19827,Active,Orphanet,ORPHA:102021,Group of disorders,[Category],Rickettsial disease,[Rickettsiae disease],,,,,,,,,, +GARD:19828,Active,Orphanet,ORPHA:102022,Group of disorders,[Category],Spotted fever rickettsiosis,[Spotted fever rickettsiae disease],,,,,,,,,, +GARD:19829,Active,Orphanet,ORPHA:102023,Group of disorders,[Category],Typhus-group rickettsiosis,[Typhus-group rickettsiae disease],,,,,,,,,, +GARD:1983,Legacy,GARD,,,,,,,,,,,,Dupont Sellier Chochillon syndrome,TRUE,FALSE,Active +GARD:19830,Active,Orphanet,ORPHA:102024,Group of disorders,[Category],Human herpesvirus 8-related disorder,[HHV-8-related disorder],,,,,,,,,, +GARD:19831,Active,Orphanet,ORPHA:102237,Group of disorders,[Category],Unexplained periodic fever syndrome,,,,,,,,,,, +GARD:19832,Active,Orphanet,ORPHA:102283,Group of disorders,[Category],Multiple congenital anomalies/dysmorphic syndrome-intellectual disability,"[MCA/MR, Multiple congenital anomalies-intellectual disability with or without dysmorphism]",,,,,,,,,, +GARD:19833,Active,Orphanet,ORPHA:102285,Group of disorders,[Category],Multiple congenital anomalies/dysmorphic syndrome without intellectual disability,"[MCA without intellectual disability, Multiple congenital anomalies without intellectual disability with or without dysmorphism]",,,,,,,,,, +GARD:19834,Active,Orphanet,ORPHA:102369,Group of disorders,[Category],Rare syndromic intellectual disability,,,,,,,,,,, +GARD:19835,Active,Orphanet,ORPHA:102379,Disorder,[Disease],Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent,[AML and myelodysplastic syndromes related to alkylating agent],"A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).",,,,,,,,, +GARD:19836,Active,Orphanet,ORPHA:102381,Disorder,[Disease],Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor,[AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor],"A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.",,,,,,,,, +GARD:19837,Active,Orphanet,ORPHA:102724,Disorder,[Disease],Acute myeloid leukemia with t(8;21)(q22;q22) translocation,[AML with t(8;21)(q22;q22) translocation],"A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count.",,,,,,,,, +GARD:19838,Active,Orphanet,ORPHA:103907,Disorder,[Disease],Chronic diarrhea due to glucoamylase deficiency,[Maltase-glucoamylase deficiency],"A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.",,,,,,,,, +GARD:19839,Active,Orphanet,ORPHA:103910,Disorder,[Disease],Congenital enterocyte heparan sulfate deficiency,,"A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.",,,,,,,,, +GARD:1984,Legacy,GARD,,,,,,,,,,,,Dwarfism bluish sclerae,TRUE,FALSE,Active +GARD:19840,Active,Orphanet,ORPHA:103920,Disorder,[Disease],Undetermined colitis,,Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohn’s disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.,,,,,,,,, +GARD:19841,Active,Orphanet,ORPHA:104003,Group of disorders,[Category],Congenital intestinal transport defect,,,,,,,,,,, +GARD:19842,Active,Orphanet,ORPHA:104004,Group of disorders,[Category],Intestinal disease due to vitamin absorption anomaly,,,,,,,,,,, +GARD:19843,Active,Orphanet,ORPHA:104005,Group of disorders,[Category],Intestinal disease due to fat malabsorption,,,,,,,,,,, +GARD:19844,Active,Orphanet,ORPHA:104006,Group of disorders,[Category],Congenital intestinal disease due to an enzymatic defect,,,,,,,,,,, +GARD:19845,Active,Orphanet,ORPHA:104007,Group of disorders,[Category],Congenital enteropathy involving intestinal mucosa development,,,,,,,,,,, +GARD:19846,Active,Orphanet,ORPHA:104009,Group of disorders,[Category],Rare disease involving intestinal motility,,,,,,,,,,, +GARD:19847,Active,Orphanet,ORPHA:104010,Group of disorders,[Clinical group],Intestinal polyposis syndrome,,,,,,,,,,, +GARD:19848,Active,Orphanet,ORPHA:104011,Group of disorders,[Category],Rare tumor of intestine,"[Rare intestinal tumor, Rare tumor of bowel]",,,,,,,,,, +GARD:19849,Active,Orphanet,ORPHA:104012,Group of disorders,[Category],Rare inflammatory bowel disease,,,,,,,,,,, +GARD:1985,Legacy,GARD,,,,,,,,,,,,Dwarfism deafness retinitis pigmentosa,TRUE,FALSE,Active +GARD:19850,Active,Orphanet,ORPHA:104013,Group of disorders,[Category],Metabolic disease with intestinal involvement,,,,,,,,,,, +GARD:19851,Active,Orphanet,ORPHA:104075,Disorder,[Disease],Adenocarcinoma of the small intestine,[Adenocarcinoma of the small bowel],"Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis.",,,,,,,,, +GARD:19852,Active,Orphanet,ORPHA:104076,Disorder,[Disease],Leiomyosarcoma of small intestine,,"Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases.",,,,,,,,, +GARD:19853,Active,Orphanet,ORPHA:104077,Subtype of disorder,[Etiological subtype],Myopathic intestinal pseudoobstruction,,,,,,,,,,, +GARD:19854,Active,Orphanet,ORPHA:104078,Subtype of disorder,[Etiological subtype],Unclassified intestinal pseudoobstruction,,,,,,,,,,, +GARD:19855,Active,Orphanet,ORPHA:108959,Group of disorders,[Category],Non-syndromic esophageal malformation,,,,,,,,,,, +GARD:19856,Active,Orphanet,ORPHA:108961,Group of disorders,[Category],Syndromic esophageal malformation,,,,,,,,,,, +GARD:19857,Active,Orphanet,ORPHA:108963,Group of disorders,[Category],Non-syndromic gastroduodenal malformation,,,,,,,,,,, +GARD:19858,Active,Orphanet,ORPHA:108965,Group of disorders,[Category],Syndromic gastroduodenal malformation,,,,,,,,,,, +GARD:19859,Active,Orphanet,ORPHA:108967,Group of disorders,[Category],Non-syndromic intestinal malformation,,,,,,,,,,, +GARD:1986,Legacy,GARD,,,,,,,,,,,,Dwarfism lethal type advanced bone age,TRUE,FALSE,Active +GARD:19860,Active,Orphanet,ORPHA:108969,Group of disorders,[Category],Syndromic intestinal malformation,,,,,,,,,,, +GARD:19861,Active,Orphanet,ORPHA:108971,Group of disorders,[Category],Non-syndromic visceral malformation,,,,,,,,,,, +GARD:19862,Active,Orphanet,ORPHA:108973,Group of disorders,[Category],Syndromic visceral malformation,,,,,,,,,,, +GARD:19863,Active,Orphanet,ORPHA:108977,Group of disorders,[Category],Non-syndromic diaphragmatic or abdominal wall malformation,,,,,,,,,,, +GARD:19864,Active,Orphanet,ORPHA:108979,Group of disorders,[Category],Syndromic diaphragmatic or abdominal wall malformation,,,,,,,,,,, +GARD:19865,Active,Orphanet,ORPHA:108989,Group of disorders,[Category],Non-syndromic central nervous system malformation,,,,,,,,,,, +GARD:19866,Active,Orphanet,ORPHA:108991,Group of disorders,[Category],Syndrome with a central nervous system malformation as a major feature,,,,,,,,,,, +GARD:19867,Active,Orphanet,ORPHA:108993,Group of disorders,[Category],Non-syndromic respiratory or mediastinal malformation,,,,,,,,,,, +GARD:19868,Active,Orphanet,ORPHA:108995,Group of disorders,[Category],Syndromic respiratory or mediastinal malformation,,,,,,,,,,, +GARD:19869,Active,Orphanet,ORPHA:108997,Group of disorders,[Category],Rare anemia,,,,,,,,,,, +GARD:19870,Active,Orphanet,ORPHA:109007,Group of disorders,[Category],Arthrogryposis syndrome,,,,,,,,,,, +GARD:19871,Active,Orphanet,ORPHA:109009,Group of disorders,[Category],Syndrome with limb malformations as a major feature,,,,,,,,,,, +GARD:19872,Active,Orphanet,ORPHA:109011,Group of disorders,[Category],Non-syndromic limb malformation,,,,,,,,,,, +GARD:19873,Active,Orphanet,ORPHA:117569,Group of disorders,[Category],Rare intestinal disease,,,,,,,,,,, +GARD:19874,Active,Orphanet,ORPHA:117573,Group of disorders,[Category],Syndromic anorectal malformation,,,,,,,,,,, +GARD:19875,Active,Orphanet,ORPHA:137577,Disorder,[Particular clinical situation in a disease or syndrome],Neonatal hypoxic and ischemic brain injury,"[HIE, Hypoxic and ischemic brain injury in the newborn, Hypoxic-ischemic encephalopathy, Perinatal asphyxia, Perinatal hypoxia]","A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy.",,,,,,,,, +GARD:19876,Active,Orphanet,ORPHA:137583,Disorder,[Disease],Vulvar intraepithelial neoplasia,"[VIN, Vulvar intraepithelial tumor]","A rare vulvovaginal tumor characterized by intraepithelial neoplastic proliferation of the vulvar epithelium, histologically presenting proliferation of atypical basal cells with basal layer involvement, enlarged nuclei, hyperchromasia, pleomorphic cells and increased numbers of mitotic figures. Patients are frequently asymptomatic, although vulvar pruritis/pain/burning, dysuria and/or dyspareunia may be associated. Concurrent anogenital involvement is frequent. Two subtypes, usual type VIN (uVIN) and differentiated type VIN (dVIN) exist, with uVIN typically being associated with HPV infection and presenting multifocal, elevated lesions around the introitus and/or labia majora, and dVIN being related to chronic inflammation and lesions consisting of poorly demarcated pink or white plaques that are often associated with lichen sclerosis or lichen planus. Diffusely positive p16 immunohistochemistry and high Ki-67 proliferation index in uVIN futher differentiates this subtype from dVIN, this latter being consistently negative for p16 while presenting p53 positivity.",,,,,,,,, +GARD:19877,Active,Orphanet,ORPHA:137593,Disorder,[Disease],Infectious epithelial keratitis,,"Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.",,,,,,,,, +GARD:19878,Active,Orphanet,ORPHA:137596,Disorder,[Disease],Neurotrophic keratopathy,[Neurotrophic keratitis],"Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.",,,,,,,,, +GARD:19879,Active,Orphanet,ORPHA:137599,Disorder,[Disease],Herpes simplex virus stromal keratitis,,"Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.",,,,,,,,, +GARD:1988,Legacy,GARD,,,,,,,,,,,,Dwarfism,FALSE,FALSE,Active +GARD:19880,Active,Orphanet,ORPHA:137602,Disorder,[Disease],Corneal endotheliitis,,"A rare corneal disorder characterized by inflammation of the corneal endothelium with corneal edema, keratic precipitates, mild to moderate anterior chamber reaction, and subsequent visual disturbances. It is often associated with increased intraocular pressure. Based on the distribution of the lesions, a linear, sectorial, disciform, and diffuse form can be distinguished.",,,,,,,,, +GARD:19881,Active,Orphanet,ORPHA:137608,Disorder,[Malformation syndrome],Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,[SOLAMEN syndrome],"Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.",,,,,,,,, +GARD:19882,Active,Orphanet,ORPHA:137622,Disorder,[Malformation syndrome],Intractable diarrhea-choanal atresia-eye anomalies syndrome,,"Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.",,,,,,,,, +GARD:19883,Active,Orphanet,ORPHA:137628,Disorder,[Malformation syndrome],Cardiac anomalies-heterotaxy syndrome,,"Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.",,,,,,,,, +GARD:19884,Active,Orphanet,ORPHA:137698,Disorder,[Particular clinical situation in a disease or syndrome],Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk,[CMV disease in patients with impaired cell mediated immunity deemed at risk],,,,,,,,,, +GARD:19885,Active,Orphanet,ORPHA:137814,Disorder,[Disease],Macular amyloidosis,,"Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.",,,,,,,,, +GARD:19886,Active,Orphanet,ORPHA:137820,Disorder,[Disease],Extrapelvic endometriosis,[Endometriosis outside pelvis],"A rare, non-malformative gynecologic disease characterized by the presence of functional endometrial glands and stroma in extrapelvic locations, such as lungs, pleura, kidneys, bladder, abdominal wall, umbilicus, and cesarean section scar among others. Clinical manifestations are menstrually-related and depend on the location of the ectopic tissue, but in general include pain, mass/nodule, swelling and/or bleeding in the involved area.",,,,,,,,, +GARD:19887,Active,Orphanet,ORPHA:137867,Disorder,[Disease],Madras motor neuron disease,[MMND],"Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.",,,,,,,,, +GARD:19888,Active,Orphanet,ORPHA:137905,Group of disorders,[Category],Syndromic optic nerve hypoplasia,,,,,,,,,,, +GARD:19889,Active,Orphanet,ORPHA:137917,Subtype of disorder,[Clinical subtype],"Choanal atresia, unilateral",,"Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.",,,,,,,,, +GARD:1989,Legacy,GARD,,,,,,,,,,,,Dwarfism stiff joint ocular abnormalities,TRUE,FALSE,Retired +GARD:19890,Active,Orphanet,ORPHA:137920,Subtype of disorder,[Clinical subtype],"Choanal atresia, bilateral",,"Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.",,,,,,,,, +GARD:19891,Active,Orphanet,ORPHA:137926,Disorder,[Malformation syndrome],Primary laryngeal lymphangioma,,"Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.",,,,,,,,, +GARD:19892,Active,Orphanet,ORPHA:137929,Disorder,[Disease],Neonatal brainstem dysfunction,,"Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.",,,,,,,,, +GARD:19893,Active,Orphanet,ORPHA:137935,Disorder,[Disease],Laryngotracheal angioma,,"A rare benign vascular tumor characterized by rapid growth after birth (followed by spontaneous partial regression over the course of years), potentially leading to life-threatening airway obstruction due to the subglottic location. Patients present with respiratory symptoms including biphasic stridor, recurrent croup, cyanosis, apnea, and sternal and intercostal retractions. The tumor may be accompanied by cutaneous hemangiomata, especially in the lower facial (""beard"") distribution.",,,,,,,,, +GARD:19894,Active,Orphanet,ORPHA:138041,Group of disorders,[Category],Pierre Robin syndrome associated with collagen disease,[Pierre Robin sequence associated with collagen disease],,,,,,,,,, +GARD:19895,Active,Orphanet,ORPHA:138044,Group of disorders,[Category],Rare disease with Pierre Robin syndrome,,,,,,,,,,, +GARD:19896,Active,Orphanet,ORPHA:138047,Group of disorders,[Category],Pierre Robin syndrome associated with a chromosomal anomaly,[Pierre Robin sequence associated with a chromosomal anomaly],,,,,,,,,, +GARD:19897,Active,Orphanet,ORPHA:138050,Group of disorders,[Category],Pierre Robin syndrome associated with branchial archs anomalies,[Pierre Robin sequence associated with branchial archs anomalies],,,,,,,,,, +GARD:19898,Active,Orphanet,ORPHA:138055,Group of disorders,[Category],Pierre Robin syndrome associated with bone disease,[Pierre Robin sequence associated with bone disease],,,,,,,,,, +GARD:19899,Active,Orphanet,ORPHA:138059,Group of disorders,[Category],Teratogenic Pierre Robin syndrome,[Teratogenic Pierre Robin sequence],,,,,,,,,, +GARD:199,Legacy,GARD,,,,,,,,,,,,Cardiac hydatid cysts with intracavitary expansion,TRUE,FALSE,Active +GARD:1990,Legacy,GARD,,,,,,,,,,,,Syndesmodysplasic dwarfism,TRUE,FALSE,Retired +GARD:19900,Active,Orphanet,ORPHA:139009,Group of disorders,[Category],Developmental anomaly of metabolic origin,,,,,,,,,,, +GARD:19901,Active,Orphanet,ORPHA:139012,Group of disorders,[Category],Rare bone development disorder,[Rare skeletal development disorder],,,,,,,,,, +GARD:19902,Active,Orphanet,ORPHA:139021,Group of disorders,[Category],Malformation syndrome with short stature,,,,,,,,,,, +GARD:19903,Active,Orphanet,ORPHA:139024,Group of disorders,[Category],Overgrowth/obesity syndrome,,,,,,,,,,, +GARD:19904,Active,Orphanet,ORPHA:139027,Group of disorders,[Category],Rare developmental defect with skin/mucosae involvement,,,,,,,,,,, +GARD:19905,Active,Orphanet,ORPHA:139030,Group of disorders,[Category],Rare developmental defect with connective tissue involvement,,,,,,,,,,, +GARD:19906,Active,Orphanet,ORPHA:139033,Group of disorders,[Category],Progeroid syndrome,,,,,,,,,,, +GARD:19907,Active,Orphanet,ORPHA:139036,Group of disorders,[Category],Branchial arch or oral-acral syndrome,,,,,,,,,,, +GARD:19908,Active,Orphanet,ORPHA:139039,Group of disorders,[Category],Orofacial clefting syndrome,,,,,,,,,,, +GARD:19909,Active,Orphanet,ORPHA:139042,Group of disorders,[Category],Malformation syndrome with odontal and/or periodontal component,,,,,,,,,,, +GARD:1991,Legacy,GARD,,,,,,,,,,,,Dwarfism tall vertebrae,TRUE,FALSE,Retired +GARD:19910,Active,Orphanet,ORPHA:139390,Group of disorders,[Clinical group],Non-syndromic craniosynostosis,[Isolated craniosynostosis],,,,,,,,,, +GARD:19911,Active,Orphanet,ORPHA:139393,Group of disorders,[Category],Syndromic craniosynostosis,,,,,,,,,,, +GARD:19912,Active,Orphanet,ORPHA:139414,Disorder,[Disease],Congenital panfollicular nevus,,"Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.",,,,,,,,, +GARD:19913,Active,Orphanet,ORPHA:139417,Disorder,[Disease],Acute transverse myelitis,,A rare inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).,,,,,,,,, +GARD:19914,Active,Orphanet,ORPHA:139423,Subtype of disorder,[Clinical subtype],Idiopathic acute transverse myelitis,,"A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.",,,,,,,,, +GARD:19915,Active,Orphanet,ORPHA:139426,Disorder,[Disease],Perioral myoclonia with absences,[POMA],"A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.",,,,,,,,, +GARD:19916,Active,Orphanet,ORPHA:139431,Disorder,[Disease],Jeavons syndrome,"[EMEA, Eyelid myoclonia with and without absences]","A rare, idiopathic, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.",,,,,,,,, +GARD:19917,Active,Orphanet,ORPHA:139444,Disorder,[Disease],Leukoencephalopathy with bilateral anterior temporal lobe cysts,,"A rare, nonprogressive, neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.",,,,,,,,, +GARD:19918,Active,Orphanet,ORPHA:139447,Disorder,[Disease],Progressive cavitating leukoencephalopathy,,"A rare leukoencephalopathy characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.",,,,,,,,, +GARD:19919,Active,Orphanet,ORPHA:139512,Disorder,[Disease],Neuropathy with hearing impairment,,This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.,,,,,,,,, +GARD:1992,Legacy,GARD,,,,,,,,,,,,Dwarfism thin bones multiple fractures,TRUE,FALSE,Active +GARD:19920,Active,Orphanet,ORPHA:139573,Disorder,[Disease],Hereditary sensory and autonomic neuropathy with deafness and global delay,"[HSAN with deafness and global delay, HSAN with hearing loss and global delay, Hereditary sensory and autonomic neuropathy with hearing loss and global delay]","This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.",,,,,,,,, +GARD:19921,Active,Orphanet,ORPHA:140162,Group of disorders,[Category],Inherited cancer-predisposing syndrome,,,,,,,,,,, +GARD:19922,Active,Orphanet,ORPHA:140286,Disorder,[Disease],Secondary hypoparathyroidism due to impaired parathormon secretion,,,,,,,,,,, +GARD:19923,Active,Orphanet,ORPHA:140453,Group of disorders,[Category],Autosomal dominant hereditary demyelinating motor and sensory neuropathy,,,,,,,,,,, +GARD:19924,Active,Orphanet,ORPHA:140456,Group of disorders,[Category],Autosomal dominant hereditary axonal motor and sensory neuropathy,,,,,,,,,,, +GARD:19925,Active,Orphanet,ORPHA:140459,Group of disorders,[Category],Autosomal recessive hereditary demyelinating motor and sensory neuropathy,,,,,,,,,,, +GARD:19926,Active,Orphanet,ORPHA:140465,Group of disorders,[Category],Autosomal dominant distal hereditary motor neuropathy,"[Autosomal dominant dHMN, Autosomal dominant distal spinal muscular atrophy]",,,,,,,,,, +GARD:19927,Active,Orphanet,ORPHA:140468,Group of disorders,[Category],Autosomal recessive distal hereditary motor neuropathy,"[Autosomal recessive dHMN, Autosomal recessive dSMA, Autosomal recessive distal spinal muscular atrophy]",,,,,,,,,, +GARD:19928,Active,Orphanet,ORPHA:140474,Group of disorders,[Category],Autosomal dominant hereditary sensory and autonomic neuropathy,,,,,,,,,,, +GARD:19929,Active,Orphanet,ORPHA:140477,Group of disorders,[Category],Autosomal recessive hereditary sensory and autonomic neuropathy,,,,,,,,,,, +GARD:1993,Active,Orphanet,ORPHA:2274,Disorder,[Disease],Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,[Dykes-Marks-Harper syndrome],"Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.",[242520],,,,,Dykes Markes Harper syndrome,TRUE,FALSE,Active +GARD:19930,Active,Orphanet,ORPHA:140653,Group of disorders,[Category],Neuro-ophthalmological disease,,,,,,,,,,, +GARD:19931,Active,Orphanet,ORPHA:140874,Group of disorders,[Category],Joubert syndrome and related disorders,[JSRD],"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.",,,,,,,,, +GARD:19932,Active,Orphanet,ORPHA:140933,Disorder,[Disease],Linear atrophoderma of Moulin,,"Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.",,,,,,,,, +GARD:19933,Active,Orphanet,ORPHA:140949,Disorder,[Particular clinical situation in a disease or syndrome],Low-flow priapism,,,,,,,,,,, +GARD:19934,Active,Orphanet,ORPHA:141013,Disorder,[Morphological anomaly],First branchial cleft anomaly,"[First branchial cleft cyst, First branchial cleft fistula]","A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywhere between the external auditory canal and the mandibular angle, including parotid gland.",,,,,,,,, +GARD:19935,Active,Orphanet,ORPHA:141030,Disorder,[Morphological anomaly],Third branchial cleft anomaly,"[Third branchial cleft cyst, Third branchial cleft fistula]","A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia,and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula.",,,,,,,,, +GARD:19936,Active,Orphanet,ORPHA:141037,Disorder,[Morphological anomaly],Fourth branchial cleft anomaly,"[Fourth branchial cleft cyst, Fourth branchial cleft fistula]","A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula.",,,,,,,,, +GARD:19937,Active,Orphanet,ORPHA:141046,Disorder,[Morphological anomaly],Cervical dermoid cyst,[Dermoid cyst of the neck],"Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.",,,,,,,,, +GARD:19938,Active,Orphanet,ORPHA:141051,Disorder,[Morphological anomaly],Facial dermoid cyst,[Dermoid cyst of the face],"Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.",,,,,,,,, +GARD:19939,Active,Orphanet,ORPHA:141061,Disorder,[Morphological anomaly],Commissural lip fistula,,"A rare otorhinolaryngological malformation characterized by a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection.",,,,,,,,, +GARD:1994,Active,Orphanet,ORPHA:1765,Disorder,[Malformation syndrome],Dyschondrosteosis-nephritis syndrome,,"Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis.",[127350],,,,,Dyschondrosteosis nephritis,TRUE,FALSE,Active +GARD:19940,Active,Orphanet,ORPHA:141064,Disorder,[Morphological anomaly],Lower lip fistula,,"A rare otorhinolaryngological malformation characterized by congenital, typically bilateral and paramedian, symmetric or asymmetric fistulae in the lower lip, which are lined by labial mucosa. The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secretion of saliva from the opening. Infections may also occur.",,,,,,,,, +GARD:19941,Active,Orphanet,ORPHA:141067,Disorder,[Morphological anomaly],Cervicofacial fibrochondroma,,"A rare extraskeletal chondroma located in the head and neck region, histologically typically characterized by lobules of mature, adult hyaline cartilage with chondrocytic cells identifiable in lacunae, and prominent fibrosis. Malignant transformation has not been described.",,,,,,,,, +GARD:19942,Active,Orphanet,ORPHA:141071,Disorder,[Morphological anomaly],Digestive duplication cyst of the tongue,"[Enteric duplication cyst of the tongue, Foregut duplication cyst of the tongue, Gastric duplication cyst of the tongue]","Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.",,,,,,,,, +GARD:19943,Active,Orphanet,ORPHA:141077,Subtype of disorder,[Clinical subtype],Epignathus,[Oropharyngeal teratoma],"Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.",,,,,,,,, +GARD:19944,Active,Orphanet,ORPHA:141083,Disorder,[Morphological anomaly],Nasolacrimal duct cyst,"[Dacryocele, Dacryocystocele, Nasolacrimal mucocele]","Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.",,,,,,,,, +GARD:19945,Active,Orphanet,ORPHA:141091,Disorder,[Malformation syndrome],Polyrrhinia,"[Double nose, Polyrhinia]","Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.",,,,,,,,, +GARD:19946,Active,Orphanet,ORPHA:141096,Disorder,[Malformation syndrome],Supernumerary nostril,[Accessory nostril],"Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia (see this term) there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.",,,,,,,,, +GARD:19947,Active,Orphanet,ORPHA:141099,Disorder,[Malformation syndrome],Proboscis lateralis,[Congenital tubular nose],"Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms).",,,,,,,,, +GARD:19948,Active,Orphanet,ORPHA:141107,Subtype of disorder,[Clinical subtype],Nasopharyngeal teratoma,[Teratoma of the nasopharynx],,,,,,,,,, +GARD:19949,Active,Orphanet,ORPHA:141112,Disorder,[Disease],Nasal glial heterotopia,[Nasal glioma],"Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.",,,,,,,,, +GARD:19950,Active,Orphanet,ORPHA:141115,Subtype of disorder,[Clinical subtype],Nasal ganglioglioma,,"Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.",,,,,,,,, +GARD:19951,Active,Orphanet,ORPHA:141118,Subtype of disorder,[Clinical subtype],Nasal encephalocele,,"Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.",,,,,,,,, +GARD:19952,Active,Orphanet,ORPHA:141121,Disorder,[Malformation syndrome],Congenital subglottic stenosis,,"A rare larynx anomaly characterized by a partial or complete narrowing of the upper airway extending from just below the vocal folds to the lower border of the cricoid cartilage. Clinical presentation is variable and includes recurrent, croup-like, upper respiratory infections, stridor, dyspnea, barking cough, and in most severe cases acute airway compromise at delivery. It may be an isolated finding, or associated with other congenital anomalies and syndromes.",,,,,,,,, +GARD:19953,Active,Orphanet,ORPHA:141124,Disorder,[Morphological anomaly],Congenital laryngeal cyst,,"Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.",,,,,,,,, +GARD:19954,Active,Orphanet,ORPHA:141163,Disorder,[Malformation syndrome],Glossopalatine ankylosis,[Cosack syndrome],Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.,,,,,,,,, +GARD:19955,Active,Orphanet,ORPHA:141168,Disorder,[Malformation syndrome],Frontonasal arteriovenous malformation,,"Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.",,,,,,,,, +GARD:19956,Active,Orphanet,ORPHA:141171,Disorder,[Malformation syndrome],Maxillary arteriovenous malformation,[Arteriovenous malformation of maxilla],"Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.",,,,,,,,, +GARD:19957,Active,Orphanet,ORPHA:141174,Disorder,[Malformation syndrome],Mandibular arteriovenous malformation,[Arteriovenous malformation of mandible],"Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.",,,,,,,,, +GARD:19958,Active,Orphanet,ORPHA:141184,Disorder,[Disease],Rapidly involuting congenital hemangioma,[RICH],Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH; see this term) mainly because they undergo rapid postnatal involution.,,,,,,,,, +GARD:19959,Active,Orphanet,ORPHA:141194,Disorder,[Malformation syndrome],Cerebrofacial arteriovenous metameric syndrome type 1,[CAMS1],"A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the hypothalamus and nasal region (medial prosencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry.",,,,,,,,, +GARD:1996,Active,Orphanet,ORPHA:241,Disorder,[Disease],Dyschromatosis universalis hereditaria,,"A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported.","[127500, 612715, 615402]",,,,,Dyschromatosis universalis hereditaria,TRUE,FALSE,Active +GARD:19960,Active,Orphanet,ORPHA:141199,Disorder,[Malformation syndrome],Cerebrofacial arteriovenous metameric syndrome type 3,[CAMS3],"A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the cerebellum, pons, and mandible (lateral rhombencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry.",,,,,,,,, +GARD:19961,Active,Orphanet,ORPHA:141209,Disorder,[Malformation syndrome],Diffuse lymphatic malformation,"[Diffuse lymphangioma, Diffuse lymphangiomatosis, Disseminated lymphangioma, Disseminated lymphangiomatosis, Disseminated lymphatic malformation, GLA, Generalized lymphatic anomaly]","A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.",,,,,,,,, +GARD:19962,Active,Orphanet,ORPHA:141214,Disorder,[Malformation syndrome],Isolated congenital syngnathia,[Isolated congenital maxillomandibular fusion],"Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.",,,,,,,,, +GARD:19963,Active,Orphanet,ORPHA:141219,Disorder,[Morphological anomaly],Nasal dorsum fistula,,"A rare otorhinolaryngological malformation characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists.",,,,,,,,, +GARD:19964,Active,Orphanet,ORPHA:141229,Group of disorders,[Category],Facial cleft,[Craniofacial cleft],,,,,,,,,, +GARD:19965,Active,Orphanet,ORPHA:141234,Group of disorders,[Clinical group],Median facial cleft,"[Midline facial cleft, Tessier number 0-14 and 30 facial cleft]",,,,,,,,,, +GARD:19966,Active,Orphanet,ORPHA:141239,Disorder,[Morphological anomaly],Median cleft of the upper lip and maxilla,,"Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaxillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.",,,,,,,,, +GARD:19967,Active,Orphanet,ORPHA:141253,Group of disorders,[Clinical group],Oblique facial cleft,[Orbitofacial cleft],,,,,,,,,, +GARD:19968,Active,Orphanet,ORPHA:141261,Disorder,[Morphological anomaly],Tessier number 5 facial cleft,,"A rare oblique facial cleft characterized by a congenital unilateral or bilateral defect beginning in the upper lip medial to the oral commissure and extending across the cheek as a groove ending between the middle and lateral third of the lower eyelid (resulting in coloboma). Bone involvement includes an alveolar cleft in the premolar region, extending across the maxilla lateral to the infraorbital nerve and up to the infraorbital rim and orbital floor. The malformation may be associated with Tessier number 3 and number 4 clefts, macrostomia, or anophthalmos.",,,,,,,,, +GARD:19969,Active,Orphanet,ORPHA:141265,Disorder,[Morphological anomaly],Tessier number 6 facial cleft,,"A rare oblique facial cleft characterized by a defect between the maxilla and the zygomatic bone, opening into the infra-orbital fissure, accompanied by coloboma of the lower eyelid and a vertical furrow on the cheek oriented either laterally to the corner of the mouth or in the direction of the angle of the mandible. The posterior aspect of the maxilla is short with a high palate and choanal atresia. The malformation is typically associated with Treacher-Collins syndrome.",,,,,,,,, +GARD:19970,Active,Orphanet,ORPHA:141269,Group of disorders,[Clinical group],Lateral facial cleft,,,,,,,,,,, +GARD:19971,Active,Orphanet,ORPHA:141288,Disorder,[Morphological anomaly],Midline cervical cleft,,"Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.",,,,,,,,, +GARD:19972,Active,Orphanet,ORPHA:155832,Group of disorders,[Category],Rare head and neck malformation,,,,,,,,,,, +GARD:19973,Active,Orphanet,ORPHA:155835,Group of disorders,[Category],Cysts and fistulae of the face and oral cavity,,,,,,,,,,, +GARD:19974,Active,Orphanet,ORPHA:155838,Disorder,[Morphological anomaly],Pinnae fistula or cyst,,"Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.",,,,,,,,, +GARD:19975,Active,Orphanet,ORPHA:155867,Group of disorders,[Clinical group],Paramedian facial cleft,[Tessier number 1-1 and 2-12 facial cleft],,,,,,,,,, +GARD:19976,Active,Orphanet,ORPHA:155878,Disorder,[Morphological anomaly],Submucosal cleft palate,,,,,,,,,,, +GARD:19977,Active,Orphanet,ORPHA:155884,Disorder,[Morphological anomaly],Coloboma of superior eyelid,[Superior palpebral coloboma],"Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.",,,,,,,,, +GARD:19978,Active,Orphanet,ORPHA:155889,Disorder,[Morphological anomaly],Coloboma of inferior eyelid,[Inferior palpebral coloboma],"Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.",,,,,,,,, +GARD:19979,Active,Orphanet,ORPHA:155896,Group of disorders,[Category],Otomandibular dysplasia,,,,,,,,,,, +GARD:1998,Active,Orphanet,ORPHA:1766,Disorder,[Disease],Dysequilibrium syndrome,"[CAMRQ syndrome, Cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome, Non-progressive cerebellar ataxia-intellectual disability syndrome, UTS, Uner Tan syndrome]","Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.","[610185, 613227, 615268, 224050]",,,,,Dysequilibrium syndrome,TRUE,FALSE,Active +GARD:19980,Active,Orphanet,ORPHA:155899,Group of disorders,[Clinical group],Mandibulofacial dysostosis,[Bilateral and symmetric oto-mandibular dysplasia],,,,,,,,,, +GARD:19981,Active,Orphanet,ORPHA:156140,Group of disorders,[Clinical group],Predominantly large-vessel vasculitis,,,,,,,,,,, +GARD:19982,Active,Orphanet,ORPHA:156143,Group of disorders,[Clinical group],Predominantly medium-vessel vasculitis,,,,,,,,,,, +GARD:19983,Active,Orphanet,ORPHA:156146,Group of disorders,[Clinical group],Predominantly small-vessel vasculitis,,,,,,,,,,, +GARD:19984,Active,Orphanet,ORPHA:156149,Group of disorders,[Category],Immune complex mediated vasculitis,,,,,,,,,,, +GARD:19985,Active,Orphanet,ORPHA:156159,Group of disorders,[Category],Isolated dystonia,[Pure dystonia],,,,,,,,,, +GARD:19986,Active,Orphanet,ORPHA:156162,Group of disorders,[Category],Renal ciliopathy,,,,,,,,,,, +GARD:19987,Active,Orphanet,ORPHA:156165,Group of disorders,[Category],Retinal ciliopathy,,,,,,,,,,, +GARD:19988,Active,Orphanet,ORPHA:156168,Group of disorders,[Category],Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene,[Retinal ciliopathy due to mutation in RP1 gene],,,,,,,,,, +GARD:19989,Active,Orphanet,ORPHA:156171,Group of disorders,[Category],Retinal ciliopathy due to mutation in the RPGR gene,,,,,,,,,,, +GARD:1999,Active,Orphanet,ORPHA:85,Group of disorders,[Clinical group],Congenital dyserythropoietic anemia,[CDA],"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms).",,,,,,Congenital dyserythropoietic anemia,TRUE,FALSE,Active +GARD:19990,Active,Orphanet,ORPHA:156174,Group of disorders,[Category],Retinal ciliopathy due to mutation in the RPGRIP gene,,,,,,,,,,, +GARD:19991,Active,Orphanet,ORPHA:156177,Group of disorders,[Category],Retinal ciliopathy due to mutation in Usher gene,,,,,,,,,,, +GARD:19992,Active,Orphanet,ORPHA:156180,Group of disorders,[Category],Retinal ciliopathy due to mutation in nephronophthisis gene,,,,,,,,,,, +GARD:19993,Active,Orphanet,ORPHA:156183,Group of disorders,[Category],Retinal ciliopathy due to mutation in Bardet-Biedl gene,,,,,,,,,,, +GARD:19994,Active,Orphanet,ORPHA:156202,Group of disorders,[Category],Otomandibular dysplasia associated with monogenic syndromes,,,,,,,,,,, +GARD:19995,Active,Orphanet,ORPHA:156212,Group of disorders,[Category],Hypoglossia/aglossia,,,,,,,,,,, +GARD:19996,Active,Orphanet,ORPHA:156215,Group of disorders,[Category],Oromandibular-limb anomalies syndrome,,,,,,,,,,, +GARD:19997,Active,Orphanet,ORPHA:156224,Group of disorders,[Category],Paralytic facial malformation,,,,,,,,,,, +GARD:19998,Active,Orphanet,ORPHA:156237,Group of disorders,[Category],Syndrome or malformation associated with head and neck malformations,,,,,,,,,,, +GARD:19999,Active,Orphanet,ORPHA:156243,Group of disorders,[Category],Pinnae and external auditory canal anomaly,,,,,,,,,,, +GARD:20,Legacy,GARD,,,,,,,,,,,,Barrett esophagus,FALSE,FALSE,Active +GARD:200,Active,Orphanet,ORPHA:443079,Disorder,[Disease],Central serous chorioretinopathy,[CSCR],"A rare, acquired, choroidal disorder characterized by subretinal detachment in the macular área and leakage of fluid under the retina that accumulates under the central macula. Symptoms tend to include blurred or distorted vision (metamorphopsia), moderate dyschromatopsia, relative central scotoma, hypermetropization, micropsia and reduced contrast sensitivity. A blurred or gray spot in the central visual field is common when the retina is detached.",,,,,,Central serous chorioretinopathy,TRUE,FALSE,Active +GARD:2000,Active,Orphanet,ORPHA:98869,Disorder,[Disease],Congenital dyserythropoietic anemia type I,"[CDA I, CDA type 1, CDA type I, Congenital dyserythropoietic anemia type 1]",Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.,"[224120, 615631]",,,,,Congenital dyserythropoietic anemia type 1,TRUE,FALSE,Active +GARD:20000,Active,Orphanet,ORPHA:156246,Group of disorders,[Category],Nose and cavum anomaly,,,,,,,,,,, +GARD:20001,Active,Orphanet,ORPHA:156249,Group of disorders,[Category],Larynx anomaly,,,,,,,,,,, +GARD:20002,Active,Orphanet,ORPHA:156252,Group of disorders,[Category],Tracheal anomaly,,,,,,,,,,, +GARD:20003,Active,Orphanet,ORPHA:156532,Group of disorders,[Category],Rare syndrome with cardiac malformations,,,,,,,,,,, +GARD:20004,Active,Orphanet,ORPHA:156601,Group of disorders,[Category],Rare genetic hepatic disease,,,,,,,,,,, +GARD:20005,Active,Orphanet,ORPHA:156604,Group of disorders,[Category],Genetic parenchymatous liver disease,,,,,,,,,,, +GARD:20006,Active,Orphanet,ORPHA:156607,Group of disorders,[Category],Genetic biliary tract disease,,,,,,,,,,, +GARD:20007,Active,Orphanet,ORPHA:156610,Group of disorders,[Category],Rare genetic respiratory disease,,,,,,,,,,, +GARD:20008,Active,Orphanet,ORPHA:156619,Group of disorders,[Category],Rare genetic urogenital disease,,,,,,,,,,, +GARD:20009,Active,Orphanet,ORPHA:156622,Group of disorders,[Category],Genetic urogenital tract malformation,,,,,,,,,,, +GARD:2001,Active,Orphanet,ORPHA:98873,Disorder,[Disease],Congenital dyserythropoietic anemia type II,"[CDA II, CDA type 2, CDA type II, Congenital dyserythropoietic anemia type 2, Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas), SEC23B-CDG]","Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.",[224100],,,,,Congenital dyserythropoietic anemia type 2,TRUE,FALSE,Active +GARD:20010,Active,Orphanet,ORPHA:156629,Group of disorders,[Category],Rare genetic cause of hypertension,,,,,,,,,,, +GARD:20011,Active,Orphanet,ORPHA:156638,Group of disorders,[Category],Rare genetic endocrine disease,,,,,,,,,,, +GARD:20012,Active,Orphanet,ORPHA:156643,Group of disorders,[Category],Genetic endocrine growth disease,,,,,,,,,,, +GARD:20013,Active,Orphanet,ORPHA:157769,Disorder,[Morphological anomaly],Situs ambiguus,"[Incomplete situs inversus, Partial situs inversus, Situs ambiguous]","A rare, genetic, developmental defect during embryogenesis characterized by a partial mirror-image transposition of intra-thoracic and/or intra-abdominal organs across the left-right axis of the body. Intra-organ variations and other malformations, such as ciliary motricity anomalies (e.g. Kartagener syndrome), biliary atresia and cardiac defects, are frequently associated. Left (polysplenia syndrome) or right (asplenia syndrome) isomerism are usually observed.",,,,,,,,, +GARD:20014,Active,Orphanet,ORPHA:157791,Disorder,[Disease],Epithelioid hemangioendothelioma,,"A rare vascular tumor characterized by a solitary lesion in the superficial or deep soft tissue of the extremities, most often originating from a small vein as a fusiform intravascular mass also infiltrating surrounding tissues. It is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma. Patients present with an often painful nodule which may be associated with edema or thrombophlebitis. In classic epithelioid hemangioendothelioma lacking atypical histological features metastatic rate and mortality are low.",,,,,,,,, +GARD:20015,Active,Orphanet,ORPHA:157808,Disorder,[Morphological anomaly],Congenital pseudoarthrosis of the limbs,[Congenital pseudarthrosis of the limbs],"Congenital pseudoarthrosis of the limbs is a rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.",,,,,,,,, +GARD:20016,Active,Orphanet,ORPHA:157826,Disorder,[Disease],Congenital epulis,"[Congenital gingival cell tumor, Congenital granular cell tumor, Neumann tumor]","A rare soft tissue tumor characterized by a benign space occupying lesion in neonates, most typically located on the gingival mucosa overlying the anterior alveolar ridge of the maxilla near the canine, although the mandibular region may also be involved. Females are much more frequently affected than males. The tumor mostly presents as a single lesion, potentially interfering with feeding and respiration. Metastasis, malignant transformation, or recurrence after excision have not been reported.",,,,,,,,, +GARD:20017,Active,Orphanet,ORPHA:157843,Group of disorders,[Clinical group],Trigeminal autonomic cephalalgia,,,,,,,,,,, +GARD:20018,Active,Orphanet,ORPHA:157991,Disorder,[Disease],Generalized eruptive histiocytosis,[Generalized eruptive histiocytoma],"A rare non-Langerhans cell histiocytosis characterized by rapid onset of crops of asymptomatic small red to brown papules, typically distributed symmetrically over the face, trunk, and proximal extremities, occasionally with mucous membrane involvement. The lesions resolve spontaneously without scarring after a variable time span and do not recur in most cases. Histopathology reveals diffuse, uniform dermal infiltration with non-xanthomatous histiocytes staining positive for CD68 and Ki-M1p. Multinucleate giant cells may occasionally be found.",,,,,,,,, +GARD:20019,Active,Orphanet,ORPHA:157997,Disorder,[Disease],Benign cephalic histiocytosis,,"A rare non-Langerhans cell histiocytosis characterized by multiple small yellowish-red or brown papules initially erupting predominantly in the head and neck region. The histopathological hallmark of these eventually self-healing lesions is a dermal proliferation of histiocytes with intracytoplasmic comma-shaped bodies, coated vesicles, and desmosome-like structures. Birbeck granules are absent. The disease typically occurs in young children.",,,,,,,,, +GARD:2002,Active,Orphanet,ORPHA:98870,Disorder,[Disease],Congenital dyserythropoietic anemia type III,"[CDA III, CDA type 3, CDA type III, Congenital dyserythropoietic anemia type 3]","Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.",[105600],,,,,Congenital dyserythropoietic anemia type 3,TRUE,FALSE,Active +GARD:20020,Active,Orphanet,ORPHA:158000,Disorder,[Disease],Juvenile xanthogranuloma,,"Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.",,,,,,,,, +GARD:20021,Active,Orphanet,ORPHA:158008,Disorder,[Disease],Papular xanthoma,,"Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.",,,,,,,,, +GARD:20022,Active,Orphanet,ORPHA:158019,Disorder,[Disease],Indeterminate cell histiocytosis,"[Indeterminate dendritic cell neoplasm, Indeterminate dendritic cell tumor]","A rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression).",,,,,,,,, +GARD:20023,Active,Orphanet,ORPHA:158022,Disorder,[Disease],Progressive nodular histiocytosis,,"Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.",,,,,,,,, +GARD:20024,Active,Orphanet,ORPHA:158032,Group of disorders,[Category],Hemophagocytic syndrome,"[HLH, Hemophagocytic lymphohistiocytosis]","Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes).",,,,,,,,, +GARD:20025,Active,Orphanet,ORPHA:158038,Group of disorders,[Clinical group],Primary hemophagocytic lymphohistiocytosis,[Genetic hemophagocytic lymphohistiocytosis],,,,,,,,,, +GARD:20026,Active,Orphanet,ORPHA:158041,Group of disorders,[Category],Secondary hemophagocytic lymphohistiocytosis,"[Acquired hemophagocytic lymphohistiocytosis, Reactive hemophagocytic syndrome]",,,,,,,,,, +GARD:20027,Active,Orphanet,ORPHA:158057,Disorder,[Particular clinical situation in a disease or syndrome],Acquired hemophagocytic lymphohistiocytosis associated with malignant disease,,"A rare, secondary hemophagocytic lymphohistiocytosis characterized by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are lukemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings.",,,,,,,,, +GARD:20028,Active,Orphanet,ORPHA:158124,Group of disorders,[Category],Genetic dementia,,,,,,,,,,, +GARD:20029,Active,Orphanet,ORPHA:158266,Group of disorders,[Clinical group],Huntington disease-like syndrome,[Huntington disease phenocopy syndrome],,,,,,,,,, +GARD:2003,Active,Orphanet,ORPHA:207073,Group of disorders,[Category],Qualitative or quantitative defects of dysferlin,[Dysferlinopathy],,,,,,,Dysferlinopathy,TRUE,FALSE,Active +GARD:20030,Active,Orphanet,ORPHA:158300,Group of disorders,[Category],Rare genetic hematologic disease,,,,,,,,,,, +GARD:20031,Active,Orphanet,ORPHA:158673,Subtype of disorder,[Clinical subtype],"Localized dystrophic epidermolysis bullosa, acral form","[Localized DEB, acral form]","A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement.",,,,,,,,, +GARD:20032,Active,Orphanet,ORPHA:158676,Subtype of disorder,[Clinical subtype],"Localized dystrophic epidermolysis bullosa, nails only","[Localized DEB, nails only]","A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed.",,,,,,,,, +GARD:20033,Active,Orphanet,ORPHA:158766,Subtype of disorder,[Clinical subtype],Typical urticaria pigmentosa,,,,,,,,,,, +GARD:20034,Active,Orphanet,ORPHA:158769,Subtype of disorder,[Clinical subtype],Plaque-form urticaria pigmentosa,,,,,,,,,,, +GARD:20035,Active,Orphanet,ORPHA:158772,Subtype of disorder,[Clinical subtype],Nodular urticaria pigmentosa,,,,,,,,,,, +GARD:20036,Active,Orphanet,ORPHA:158775,Disorder,[Disease],Smoldering systemic mastocytosis,,"A rare, slowly progressive form of systemic mastocytosis (SM) characterized by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions.",,,,,,,,, +GARD:20037,Active,Orphanet,ORPHA:158778,Disorder,[Disease],Isolated bone marrow mastocytosis,,"A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.",,,,,,,,, +GARD:20038,Active,Orphanet,ORPHA:160148,Disorder,[Disease],Cap polyposis,"[Cap inflammatory polyposis, Eroded polypoid hyperplasia, Inflammatory myoglandular polyps, Polypoid prolapsing folds]","A rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.",,,,,,,,, +GARD:20039,Active,Orphanet,ORPHA:162516,Disorder,[Malformation syndrome],Isolated congenital nasal pyriform aperture stenosis,"[Isolated apertura pyriformis stenosis, Isolated nasal pyriform aperture hypoplasia]","A rare otorhinolaryngological malformation characterized by narrowing of the pyriform aperture (i. e. < 8 to 10 mm in a full-term infant) due to an overgrowth of the nasal process of the maxilla, resulting in potentially lethal nasal airway obstruction in the newborn. Depending on the degree of obstruction, clinical signs and symptoms include inspiratory stridor, respiratory distress, cyanosis, sternal retraction, ribcage asymmetry, and feeding difficulties.",,,,,,,,, +GARD:2004,Active,Orphanet,ORPHA:98881,Subtype of disorder,[Clinical subtype],Familial dysfibrinogenemia,,Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.,[616004],,,,,Dysfibrinogenemia,TRUE,FALSE,Active +GARD:20040,Active,Orphanet,ORPHA:162526,Disorder,[Morphological anomaly],Isolated congenital auditory ossicle malformation,[Congenital auditory ossicle malformation without external ear abnormality],"Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non-progressive, conductive hearing loss often associated with speech delay and poor school performance.",,,,,,,,, +GARD:20041,Active,Orphanet,ORPHA:163209,Group of disorders,[Category],Non-syndromic cerebral malformation due to abnormal neuronal migration,[Brain malformation due to abnormal neuronal migration],,,,,,,,,, +GARD:20042,Active,Orphanet,ORPHA:163525,Disorder,[Disease],Subacute cutaneous lupus erythematosus,,"A form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. This disorder is associated with anti-Ro/SSA antibodies and can be drug-induced.",,,,,,,,, +GARD:20043,Active,Orphanet,ORPHA:163531,Group of disorders,[Clinical group],Chronic cutaneous lupus erythematosus,,"A form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.",,,,,,,,, +GARD:20044,Active,Orphanet,ORPHA:163582,Group of disorders,[Category],Rare bacterial infectious disease,,,,,,,,,,, +GARD:20045,Active,Orphanet,ORPHA:163585,Group of disorders,[Category],Rare viral disease,,,,,,,,,,, +GARD:20046,Active,Orphanet,ORPHA:163588,Group of disorders,[Category],Rare parasitic disease,,,,,,,,,,, +GARD:20047,Active,Orphanet,ORPHA:163591,Group of disorders,[Category],Rare mycosis,,,,,,,,,,, +GARD:20048,Active,Orphanet,ORPHA:163631,Group of disorders,[Category],Bile acid synthesis defect with cholestasis and malabsorption,,,,,,,,,,, +GARD:20049,Active,Orphanet,ORPHA:163637,Group of disorders,[Category],"Rare disorder related with pregnancy, childbirth and puerperium",,,,,,,,,,, +GARD:2005,Active,Orphanet,ORPHA:182127,Disorder,[Disease],Extragonadal germinoma,,"Extragonadal germinoma is a rare, malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumor commonly presents with chest pain, dyspnea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumor.",,,,,,Central nervous system germinoma,TRUE,FALSE,Active +GARD:20050,Active,Orphanet,ORPHA:163708,Disorder,[Disease],Cryptogenic late-onset epileptic spasms,[Late-onset infantile spasms],"Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.",,,,,,,,, +GARD:20051,Active,Orphanet,ORPHA:163921,Disorder,[Particular clinical situation in a disease or syndrome],Posttransplant acute limbic encephalitis,[PALE],"Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.",,,,,,,,, +GARD:20052,Active,Orphanet,ORPHA:163931,Disorder,[Disease],Acrodermatitis continua of Hallopeau,,"A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.",,,,,,,,, +GARD:20053,Active,Orphanet,ORPHA:163934,Disorder,[Disease],Atopic keratoconjunctivitis,,"A rare, chronic allergic disease of the cornea and conjunctiva occurring in all age groups, characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.",,,,,,,,, +GARD:20054,Active,Orphanet,ORPHA:163971,Disorder,[Disease],"X-linked intellectual disability, Cilliers type",[X-linked intellectual disability-microcephaly-testicular failure syndrome],"X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).",,,,,,,,, +GARD:20055,Active,Orphanet,ORPHA:164001,Group of disorders,[Category],Rare odontal or periodontal disorder,,,,,,,,,,, +GARD:20056,Active,Orphanet,ORPHA:164004,Group of disorders,[Category],Middle ear anomaly,,,,,,,,,,, +GARD:20057,Active,Orphanet,ORPHA:164726,Disorder,[Disease],Acute myeloid leukemia and myelodysplastic syndromes related to radiation,[AML and myelodysplastic syndromes related to radiation],"A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.",,,,,,,,, +GARD:20058,Active,Orphanet,ORPHA:164823,Group of disorders,[Category],Rare acquired aplastic anemia,,,,,,,,,,, +GARD:20059,Active,Orphanet,ORPHA:165652,Group of disorders,[Category],Rare genetic gastroenterological disease,,,,,,,,,,, +GARD:20060,Active,Orphanet,ORPHA:165655,Group of disorders,[Category],Genetic intestinal disease,,,,,,,,,,, +GARD:20061,Active,Orphanet,ORPHA:165658,Group of disorders,[Category],Genetic gastro-esophageal disease,,,,,,,,,,, +GARD:20062,Active,Orphanet,ORPHA:165661,Group of disorders,[Category],Genetic pancreatic disease,,,,,,,,,,, +GARD:20063,Active,Orphanet,ORPHA:165704,Group of disorders,[Category],Non-syndromic urogenital tract malformation,,,,,,,,,,, +GARD:20064,Active,Orphanet,ORPHA:165707,Group of disorders,[Category],Syndromic urogenital tract malformation,,,,,,,,,,, +GARD:20065,Active,Orphanet,ORPHA:165955,Disorder,[Disease],Wound myiasis,[Traumatic myiasis],"A rare cutaneous myiasis characterized by infestation of open wounds by dipterous fly larvae. Mucous membranes and body cavity openings can also be affected. The condition may be accompanied by fever, pain, and secondary infections and can lead to massive tissue destruction and even death. Predisposing factors for larval infestation are poor hygiene, advanced or very young age, alcoholism, diabetes, and vascular occlusive disease, among others.",,,,,,,,, +GARD:20066,Active,Orphanet,ORPHA:165958,Disorder,[Disease],Cavitary myiasis,,"Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.",,,,,,,,, +GARD:20067,Active,Orphanet,ORPHA:165985,Group of disorders,[Clinical group],Diazoxide-sensitive diffuse hyperinsulinism,"[Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form]",,,,,,,,,, +GARD:20068,Active,Orphanet,ORPHA:165988,Group of disorders,[Clinical group],Diazoxide-resistant diffuse hyperinsulinism,"[Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form]","Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.",,,,,,,,, +GARD:20069,Active,Orphanet,ORPHA:166113,Disorder,[Disease],Bazex syndrome,"[Acrokeratosis of Bazex, Acrokeratosis paraneoplastica, Acrokeratosis paraneoplastica of Bazex]",Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions.,,,,,,,,, +GARD:2007,Active,Orphanet+OMIM,OMIM:305000,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, x-linked",[Zinsser-cole-engman syndrome],"Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by {32:Kirwan and Dokal, 2008}).\n\nHoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by {55:Walne et al., 2013}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[305000],[1775],[Dyskeratosis congenita],[10905],,Dyskeratosis congenita X-linked,TRUE,FALSE,Active +GARD:20070,Active,Orphanet,ORPHA:166286,Disorder,[Disease],Porokeratotic eccrine ostial and dermal duct nevus,"[Comedo nevus of the palm, Porokeratotic eccrine nevus]",,,,,,,,,, +GARD:20071,Active,Orphanet,ORPHA:166295,Group of disorders,[Clinical group],Benign non-familial infantile seizures,,,,,,,,,,, +GARD:20072,Active,Orphanet,ORPHA:166299,Disorder,[Disease],Benign partial epilepsy of infancy with complex partial seizures,,"Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.",,,,,,,,, +GARD:20073,Active,Orphanet,ORPHA:166302,Disorder,[Disease],Benign partial epilepsy with secondarily generalized seizures in infancy,,"Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.",,,,,,,,, +GARD:20074,Active,Orphanet,ORPHA:166305,Disorder,[Disease],Benign infantile seizures associated with mild gastroenteritis,,"Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.",,,,,,,,, +GARD:20075,Active,Orphanet,ORPHA:166308,Disorder,[Disease],Benign infantile focal epilepsy with midline spikes and waves during sleep,[BIMSE],"Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.",,,,,,,,, +GARD:20076,Active,Orphanet,ORPHA:166311,Group of disorders,[Clinical group],Benign partial infantile seizures,,,,,,,,,,, +GARD:20077,Active,Orphanet,ORPHA:166415,Disorder,[Disease],Audiogenic seizures,,"A rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).",,,,,,,,, +GARD:20078,Active,Orphanet,ORPHA:166418,Disorder,[Disease],Eating reflex epilepsy,"[Eating epilepsy, Eating seizures]","A rare reflex epilepsy characterized by in most cases complex partial seizures triggered by different components of eating, such as the sight of food, proprioceptive, olfactory or gustatory sensations, chewing, salivation, and gastric distension after food intake. The seizures may be idiopathic or associated with symptomatic localization-related epilepsies.",,,,,,,,, +GARD:20079,Active,Orphanet,ORPHA:166421,Disorder,[Disease],Orgasm-induced seizures,,"Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.",,,,,,,,, +GARD:2008,Legacy,GARD,,,,,,,,,,,,Dysmorphism abnormal vocalization mental retardation,TRUE,FALSE,Retired +GARD:20080,Active,Orphanet,ORPHA:166424,Disorder,[Disease],Thinking seizures,,"Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g. Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.",,,,,,,,, +GARD:20081,Active,Orphanet,ORPHA:166427,Disorder,[Disease],Startle epilepsy,,"Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.",,,,,,,,, +GARD:20082,Active,Orphanet,ORPHA:166430,Disorder,[Disease],Micturation-induced seizures,,"Micturation-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.",,,,,,,,, +GARD:20083,Active,Orphanet,ORPHA:166463,Group of disorders,[Category],Epilepsy syndrome,,,,,,,,,,, +GARD:20084,Active,Orphanet,ORPHA:166466,Group of disorders,[Category],Neurocutaneous syndrome with epilepsy,,,,,,,,,,, +GARD:20085,Active,Orphanet,ORPHA:166469,Group of disorders,[Category],Chromosomal anomaly with epilepsy as a major feature,,,,,,,,,,, +GARD:20086,Active,Orphanet,ORPHA:166472,Group of disorders,[Category],Monogenic disease with epilepsy,,,,,,,,,,, +GARD:20087,Active,Orphanet,ORPHA:166475,Group of disorders,[Category],Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes,,,,,,,,,,, +GARD:20088,Active,Orphanet,ORPHA:166478,Group of disorders,[Category],Cerebral malformation with epilepsy,,,,,,,,,,, +GARD:20089,Active,Orphanet,ORPHA:166481,Group of disorders,[Category],Metabolic diseases with epilepsy,,,,,,,,,,, +GARD:2009,Active,Orphanet,ORPHA:1779,Disorder,[Malformation syndrome],Dysmorphism-cleft palate-loose skin syndrome,,"Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.",,,,,,Dysmorphism cleft palate loose skin,TRUE,FALSE,Active +GARD:20090,Active,Orphanet,ORPHA:166484,Group of disorders,[Category],Inflammatory and autoimmune disease with epilepsy,,,,,,,,,,, +GARD:20091,Active,Orphanet,ORPHA:166487,Group of disorders,[Category],Cerebral diseases of vascular origin with epilepsy,,,,,,,,,,, +GARD:20092,Active,Orphanet,ORPHA:166490,Group of disorders,[Category],Infectious disease with epilepsy,,,,,,,,,,, +GARD:20093,Active,Orphanet,ORPHA:166775,Group of disorders,[Category],Rare hemorrhagic disorder due to an acquired coagulation factor defect,"[Rare bleeding disorder due to an acquired coagulation factor defect, Rare coagulopathy due to an acquired coagulation factor defect]",,,,,,,,,, +GARD:20094,Active,Orphanet,ORPHA:167759,Group of disorders,[Category],Hereditary dentin defect,,"The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions.",,,,,,,,, +GARD:20095,Active,Orphanet,ORPHA:167762,Group of disorders,[Category],Rare disease with dentinogenesis imperfecta,,,,,,,,,,, +GARD:20096,Active,Orphanet,ORPHA:167848,Group of disorders,[Category],Rare cardiomyopathy,,,,,,,,,,, +GARD:20097,Active,Orphanet,ORPHA:168194,Group of disorders,[Category],Rare cardiac tumor,,,,,,,,,,, +GARD:20098,Active,Orphanet,ORPHA:168621,Disorder,[Disease],"Dysplasia of head of femur, Meyer type","[Dysplasia epiphysealis capitis femoris, Meyer dysplasia]","Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.",,,,,,,,, +GARD:20099,Active,Orphanet,ORPHA:168778,Group of disorders,[Category],Rare pervasive developmental disorder,"[Rare ASD, Rare PDD, Rare autism spectrum disorder]",,,,,,,,,, +GARD:201,Active,Orphanet,ORPHA:1253,Disorder,[Malformation syndrome],Ascher syndrome,[Blepharochalasis-double lip syndrome],"A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.",[109900],,,,,Ascher Syndrome,TRUE,FALSE,Active +GARD:20100,Active,Orphanet,ORPHA:168803,Group of disorders,[Category],Primary peritoneal tumor,,,,,,,,,,, +GARD:20101,Active,Orphanet,ORPHA:168807,Group of disorders,[Category],Primary malignant peritoneal tumor,,,,,,,,,,, +GARD:20102,Active,Orphanet,ORPHA:168811,Disorder,[Disease],Malignant peritoneal mesothelioma,"[Diffuse malignant peritoneal mesothelioma, Primary malignant peritoneal mesothelioma]",Malignant peritoneal mesothelioma is a primary peritoneal malignancy occurring in the lining cells (mesothelium) of the peritoneal cavity.,,,,,,,,, +GARD:20103,Active,Orphanet,ORPHA:168829,Disorder,[Disease],Primary peritoneal carcinoma,"[EOPPC, Extra-ovarian primary peritoneal carcinoma, PPC, Primary peritoneal serous carcinoma, Serous surface papillary carcinoma]","Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma (see this term).",,,,,,,,, +GARD:20104,Active,Orphanet,ORPHA:168940,Disorder,[Disease],Chronic eosinophilic leukemia,,"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common.",,,,,,,,, +GARD:20105,Active,Orphanet,ORPHA:168943,Group of disorders,[Category],"Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2",,,,,,,,,,, +GARD:20106,Active,Orphanet,ORPHA:168947,Disorder,[Disease],Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement,,"A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.",,,,,,,,, +GARD:20107,Active,Orphanet,ORPHA:168950,Disorder,[Disease],Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement,,"A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.",,,,,,,,, +GARD:20108,Active,Orphanet,ORPHA:168960,Disorder,[Disease],Refractory anemia with excess blasts in transformation,[RAEB-t],"A rare hematologic disease characterized by the presence of 20-29% blasts in the bone marrow, presence of 5-29% blasts in the peripheral blood, and/or presence of Auer rods. Patients show relatively stable peripheral blood counts for weeks or months, with specific cytogenetic and molecular genetic characteristics constituting important prognostic factors.",,,,,,,,, +GARD:20109,Active,Orphanet,ORPHA:168966,Disorder,[Disease],Composite lymphoma,[Composite Hodgkin and non-Hodgkin lymphoma],"A rare lymphoma characterized by the concurrent occurrence of two or more histologic types of lymphoma involving the same anatomic site. Composite lymphomas can be combinations of two non-Hodgkin lymphomas or of a non-Hodgkin and a Hodgkin lymphoma. In many cases, the tumors are clonally related. Clinical presentation and treatment are determined by the more aggressive component.",,,,,,,,, +GARD:20110,Active,Orphanet,ORPHA:168999,Disorder,[Disease],Malignant melanoma of the mucosa,,"A rare, aggressive, neoplastic disease characterized by the presence of a melanocyte tumor that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence.",,,,,,,,, +GARD:20111,Active,Orphanet,ORPHA:169110,Disorder,[Disease],Immunoglobulin heavy chain deficiency,,,,,,,,,,, +GARD:20112,Active,Orphanet,ORPHA:169139,Disorder,[Disease],Transient hypogammaglobulinemia of infancy,,"A rare primary immunodeficiency characterized by a delay in the maturation of immunoglobulin production, leading to prolongation of the physiologic hypogammaglobulinemia of the newborn period beyond six months of age. Patients present recurrent respiratory infections, otitis media, bronchitis, gastroenteritis, or allergic symptoms in the first two to four years of life, before the condition resolves spontaneously. Some children may remain asymptomatic, and severe or life-threatening infections are rare. The capacity to synthesize specific antibodies in response to vaccines is usually normal.",,,,,,,,, +GARD:20113,Active,Orphanet,ORPHA:169163,Group of disorders,[Category],Familial scaphocephaly syndrome,,,,,,,,,,, +GARD:20114,Active,Orphanet,ORPHA:169346,Group of disorders,[Category],DNA repair defect other than combined T-cell and B-cell immunodeficiencies,,,,,,,,,,, +GARD:20115,Active,Orphanet,ORPHA:169349,Group of disorders,[Clinical group],Immuno-osseous dysplasia,,,,,,,,,,, +GARD:20116,Active,Orphanet,ORPHA:169355,Group of disorders,[Category],Immunodeficiency syndrome with autoimmunity,,,,,,,,,,, +GARD:20117,Active,Orphanet,ORPHA:169361,Group of disorders,[Category],Immune dysregulation disease with immunodeficiency,,,,,,,,,,, +GARD:20118,Active,Orphanet,ORPHA:169443,Group of disorders,[Category],Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells,,,,,,,,,,, +GARD:20119,Active,Orphanet,ORPHA:169615,Subtype of disorder,[Etiological subtype],Idiopathic central precocious puberty,,,,,,,,,,, +GARD:2012,Active,Orphanet,ORPHA:1782,Disorder,[Malformation syndrome],Dysosteosclerosis,,A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly.,[224300],,,,,Dysosteosclerosis,TRUE,FALSE,Active +GARD:20120,Active,Orphanet,ORPHA:169618,Subtype of disorder,[Etiological subtype],Secondary central precocious puberty,,,,,,,,,,, +GARD:20121,Active,Orphanet,ORPHA:169826,Group of disorders,[Category],Congenital vitamin K-dependent coagulation factors deficiency,,,,,,,,,,, +GARD:20122,Active,Orphanet,ORPHA:171220,Disorder,[Morphological anomaly],Rectal duplication,,"A rare, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.",,,,,,,,, +GARD:20123,Active,Orphanet,ORPHA:171673,Disorder,[Disease],Limbal stem cell deficiency,,"A rare corneal disorder characterized by dysfunction and/or insufficient quantity of corneal limbal stem cells, leading to impaired self-renewal of the corneal epithelium and resulting in epithelial breakdown, corneal conjunctivalization and neovascularization, chronic inflammation, persistent epithelial defects, and scarring. Patients usually present with ocular redness, decreased vision, photophobia, foreign body sensation, tearing, and pain. The condition may be genetic, idiopathic, or acquired (in the context of inflammation, infection, trauma, or ocular surface tumors).",,,,,,,,, +GARD:20124,Active,Orphanet,ORPHA:171684,Disorder,[Disease],Idiopathic bilateral vestibulopathy,,"Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth cranial nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.",,,,,,,,, +GARD:20125,Active,Orphanet,ORPHA:171703,Disorder,[Malformation syndrome],Microcephaly-polymicrogyria-corpus callosum agenesis syndrome,,"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.",,,,,,,,, +GARD:20126,Active,Orphanet,ORPHA:171829,Disorder,[Disease],6q16 microdeletion syndrome,"[Del(6)(q16), Monosomy 6q16, Prader-Willi-like syndrome due to microdeletion 6q16]","A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.",,,,,,,,, +GARD:20127,Active,Orphanet,ORPHA:171839,Disorder,[Malformation syndrome],Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome,"[Berant syndrome, Capra-DeMarco syndrome, Familial scaphocephaly-radioulnar synostosis syndrome]","A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.",,,,,,,,, +GARD:20128,Active,Orphanet,ORPHA:171860,Disorder,[Disease],Intellectual disability-cataracts-kyphosis syndrome,,"This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.",,,,,,,,, +GARD:20129,Active,Orphanet,ORPHA:171889,Disorder,[Disease],Myopathy with hexagonally cross-linked tubular arrays,,"Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.",,,,,,,,, +GARD:2013,Active,Orphanet+OMIM,OMIM:180700,Subtype of disorder,[Clinical subtype],"Robinow syndrome, autosomal dominant 1","[acral dysostosis with facial and genital abnormalities, fetal face syndrome, Robinow dwarfism]","Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by {21:Roifman et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Robinow syndrome, see RRS ({268310}).",[180700],[3107],[Autosomal dominant Robinow syndrome],[16620],,Dysostosis acral with facial and genital abnormalities,TRUE,FALSE,Retired +GARD:20130,Active,Orphanet,ORPHA:171895,Group of disorders,[Category],Myeloid hemopathy,,,,,,,,,,, +GARD:20131,Active,Orphanet,ORPHA:171898,Group of disorders,[Category],Lymphoid hemopathy,,,,,,,,,,, +GARD:20132,Active,Orphanet,ORPHA:171915,Group of disorders,[Category],B-cell non-Hodgkin lymphoma,[B-cell NHL],,,,,,,,,, +GARD:20133,Active,Orphanet,ORPHA:171918,Group of disorders,[Category],T-cell non-Hodgkin lymphoma,[T-cell NHL],,,,,,,,,, +GARD:20134,Active,Orphanet,ORPHA:172976,Group of disorders,[Clinical group],Congenital myopathy with cores,,,,,,,,,,, +GARD:20135,Active,Orphanet,ORPHA:174590,Group of disorders,[Category],Congenital hypogonadotropic hypogonadism,,,,,,,,,,, +GARD:20136,Active,Orphanet,ORPHA:177101,Group of disorders,[Category],Rare adult hypothyroidism,,,,,,,,,,, +GARD:20137,Active,Orphanet,ORPHA:177107,Group of disorders,[Category],Syndromic hypothyroidism,,,,,,,,,,, +GARD:20138,Active,Orphanet,ORPHA:177901,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,,,,,,,,,,, +GARD:20139,Active,Orphanet,ORPHA:177904,Subtype of disorder,[Etiological subtype],Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,,,,,,,,,,, +GARD:20140,Active,Orphanet,ORPHA:178025,Group of disorders,[Category],Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations,,,,,,,,,,, +GARD:20141,Active,Orphanet,ORPHA:178040,Group of disorders,[Category],Rare peripheral precocious puberty,,,,,,,,,,, +GARD:20142,Active,Orphanet,ORPHA:178045,Group of disorders,[Clinical group],Transient congenital hypothyroidism,,,,,,,,,,, +GARD:20143,Active,Orphanet,ORPHA:178148,Subtype of disorder,[Clinical subtype],Antenatal multiminicore disease with arthrogryposis multiplex congenita,,,,,,,,,,, +GARD:20144,Active,Orphanet,ORPHA:178311,Disorder,[Disease],Isolated sternocostoclavicular hyperostosis,[Isolated SCCH],"Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.",,,,,,,,, +GARD:20145,Active,Orphanet,ORPHA:178315,Disorder,[Disease],Undifferentiated embryonal sarcoma of the liver,"[Embryonal sarcoma of the liver, UES, Undifferentiated sarcoma of the liver]","Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.",,,,,,,,, +GARD:20146,Active,Orphanet,ORPHA:178320,Disorder,[Particular clinical situation in a disease or syndrome],Acute lung injury,,,,,,,,,,, +GARD:20147,Active,Orphanet,ORPHA:178377,Disorder,[Malformation syndrome],Osteosclerosis-developmental delay-craniosynostosis syndrome,,"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).",,,,,,,,, +GARD:20148,Active,Orphanet,ORPHA:178396,Disorder,[Disease],Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,,"A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.",,,,,,,,, +GARD:20149,Active,Orphanet,ORPHA:178475,Subtype of disorder,[Etiological subtype],Wound botulism,"[Cutaneous infectious botulism, Cutaneous toxin-mediated botulism, Inoculation botulism, Skin infectious botulism, Skin toxin-mediated botulism]","Wound botulism is a rare infectious form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs), produced after infection of wounds by Clostridium botulinum.",,,,,,,,, +GARD:2015,Active,Orphanet,ORPHA:1795,Disorder,[Malformation syndrome],Peripheral dysostosis,,"Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.",[170700],,,,,Dysostosis peripheral,TRUE,FALSE,Active +GARD:20150,Active,Orphanet,ORPHA:178478,Subtype of disorder,[Clinical subtype],Infant botulism,"[Infant intestinal botulism, Infant intestinal toxemia botulism, Infant intestinal toxin-mediated botulism, Infantile botulism]","A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). It is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.",,,,,,,,, +GARD:20151,Active,Orphanet,ORPHA:178481,Subtype of disorder,[Clinical subtype],Intestinal botulism,"[Intestinal colonization botulism, Intestinal toxemia botulism, Intestinal toxin-mediated botulism]","A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).",,,,,,,,, +GARD:20152,Active,Orphanet,ORPHA:178487,Subtype of disorder,[Clinical subtype],Adult intestinal botulism,"[Adult intestinal colonization botulism, Adult intestinal toxemia botulism, Adult intestinal toxin-mediated botulism, Infant-like botulism]","A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.",,,,,,,,, +GARD:20153,Active,Orphanet,ORPHA:178493,Disorder,[Disease],Myopic macular degeneration,[Myopic maculopathy],"A rare, genetic macular disorder characterised by severe near-sightedness resulting from continual elongation of the eyeball. As the eyeball stretches the sclera and retina thin and the macula can tear, causing bleeding beneath the retina. It is a major cause of irreversible vision loss.",,,,,,,,, +GARD:20154,Active,Orphanet,ORPHA:178512,Disorder,[Disease],Folliculotropic mycosis fungoides,[Mycosis fungoides-associated follicular mucinosis],"A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.",,,,,,,,, +GARD:20155,Active,Orphanet,ORPHA:178517,Disorder,[Disease],Localized pagetoid reticulosis,"[Pagetoid reticulosis, Woringer-Kolopp type]","A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of localized patches or plaques with epidermal hyperplasia and intraepidermal proliferation of neoplastic T-cells, usually involving one extremity.",,,,,,,,, +GARD:20156,Active,Orphanet,ORPHA:178522,Disorder,[Disease],Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma,,"A rare, primary cutaneous T-cell lymphoma characterized by solitary cutaneous nodule or only regional disease, typically occurring on the head and neck, and involving entire dermis. Sometimes, subcutis and adnexal structures are involved, as well. The infiltrate is nodular or diffuse, composed of small to medium sized pleomorphic lymphocytes and showing mild to moderate cytologic atypia. Neoplastic T-cells are mixed with B-cells, histiocytes, plasma cells and eosinophils.",,,,,,,,, +GARD:20157,Active,Orphanet,ORPHA:178528,Disorder,[Disease],Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma,"[Berti lymphoma, Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma]","Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.",,,,,,,,, +GARD:20158,Active,Orphanet,ORPHA:178533,Disorder,[Disease],Primary cutaneous gamma/delta-positive T-cell lymphoma,,"Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.",,,,,,,,, +GARD:20159,Active,Orphanet,ORPHA:178536,Disorder,[Disease],Primary cutaneous marginal zone B-cell lymphoma,[PCMZL],"A rare, indolent primary cutaneous B-cell lymphoma characterized by multifocal, red to violaceous papules, plaques or nodules localized predominantly on the trunk and extremities. Histologically, these are dermis infiltrates consisting of small, marginal zone B cells, lymphoplasmacytic cells, and plasma cells. Marginal zone B cells express CD20, CD79a and Bcl-2, and are negative for CD5, CD10 and Bcl-6. Plasma cells are typically located at the periphery, and express CD138, CD79a, and monotypic light chains.",,,,,,,,, +GARD:2016,Active,Orphanet,ORPHA:1798,Disorder,[Malformation syndrome],"Dysostosis, Stanescu type","[Autosomal dominant osteosclerosis, Stanescu type, Craniofacial dysostosis-diaphyseal hyperplasia syndrome, Stanescu osteosclerosis]",Stanescu type dysostosis is a rare form of osteosclerosis.,[122900],,,,,Craniofacial dysostosis with diaphyseal hyperplasia,TRUE,FALSE,Active +GARD:20160,Active,Orphanet,ORPHA:178544,Disorder,[Disease],"Primary cutaneous diffuse large B-cell lymphoma, leg type","[PCDLBCL,LT]","A rare, aggressive, primary cutaneous B-cell lymphoma characterized by rapidly progressive, red to bluish, often ulcerating, nodular tumors predominantly involving the lower legs. Histology shows sheets of centroblasts and immunoblasts that spare the epidermis, but infiltrate the dermis and subcutaneous tissues, and often disseminate extracutaneously. The neoplastic cells typically express CD20, CD79a, Bcl-2, MUM-1, and FOXP1, but are negative for CD10.",,,,,,,,, +GARD:20161,Active,Orphanet,ORPHA:178548,Group of disorders,[Clinical group],Indolent primary cutaneous T-cell lymphoma,,,,,,,,,,, +GARD:20162,Active,Orphanet,ORPHA:178551,Group of disorders,[Clinical group],Aggressive primary cutaneous T-cell lymphoma,,,,,,,,,,, +GARD:20163,Active,Orphanet,ORPHA:178554,Group of disorders,[Clinical group],Aggressive primary cutaneous B-cell lymphoma,,,,,,,,,,, +GARD:20164,Active,Orphanet,ORPHA:178557,Group of disorders,[Clinical group],Indolent primary cutaneous B-cell lymphoma,,,,,,,,,,, +GARD:20165,Active,Orphanet,ORPHA:178563,Group of disorders,[Category],Primary cutaneous B-cell lymphoma,,,,,,,,,,, +GARD:20166,Active,Orphanet,ORPHA:178566,Group of disorders,[Clinical group],Mycosis fungoides and variants,,"A group of disorders including the most common forms of cutaneous T-cell lymphomas. The term Mycosis fungoides (MF) is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.",,,,,,,,, +GARD:20167,Active,Orphanet,ORPHA:178996,Group of disorders,[Category],Acquired neutropenia,[Immunologic neutropenia],,,,,,,,,, +GARD:20168,Active,Orphanet,ORPHA:179006,Group of disorders,[Category],Primary immunodeficiency due to a defect in adaptive immunity,,,,,,,,,,, +GARD:20169,Active,Orphanet,ORPHA:179490,Subtype of disorder,[Etiological subtype],Obesity due to congenital leptin resistance,,,,,,,,,,, +GARD:20170,Active,Orphanet,ORPHA:180062,Group of disorders,[Category],Uterovaginal malformation,,,,,,,,,,, +GARD:20171,Active,Orphanet,ORPHA:180065,Group of disorders,[Category],Non-syndromic uterovaginal malformation,,,,,,,,,,, +GARD:20172,Active,Orphanet,ORPHA:180068,Group of disorders,[Clinical group],Partial bilateral aplasia of the Müllerian ducts,[Incomplete bilateral aplasia of the Müllerian ducts],,,,,,,,,, +GARD:20173,Active,Orphanet,ORPHA:180071,Group of disorders,[Clinical group],Unilateral aplasia of the Müllerian ducts,[Unicornuate uterus],,,,,,,,,, +GARD:20174,Active,Orphanet,ORPHA:180074,Disorder,[Morphological anomaly],True unicornuate uterus,"[Complete unilateral Müllerian aplasia, Complete unilateral aplasia of the Müllerian ducts, Unicornuate uterus without rudimentary horn]","A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.",,,,,,,,, +GARD:20175,Active,Orphanet,ORPHA:180079,Disorder,[Morphological anomaly],Pseudounicornuate uterus,"[Incomplete unilateral Müllerian aplasia, Incomplete unilateral aplasia of the Müllerian ducts, Unicornuate uterus with rudimentary horn]","A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.",,,,,,,,, +GARD:20176,Active,Orphanet,ORPHA:180086,Disorder,[Morphological anomaly],Didelphys uterus,[Bicervical bicornuate uterus],"A rare non-syndromic uterovaginal malformation characterized by two separate uterine cavities and cervices, due to failure of the Müllerian ducts to fuse. A longitudinal vaginal septum of variable thickness and elasticity is also present. Patients may be asymptomatic or experience dyspareunia or dysmenorrhea. There is increased frequency of endometriosis, as well as fertility and gestational issues with significantly reduced chances of seeing a pregnancy to term. The condition may be associated with renal agenesis.",,,,,,,,, +GARD:20177,Active,Orphanet,ORPHA:180106,Subtype of disorder,[Clinical subtype],Bicervical bicornuate uterus and blind hemivagina,,,,,,,,,,, +GARD:20178,Active,Orphanet,ORPHA:180111,Subtype of disorder,[Clinical subtype],Bicervical bicornuate uterus with patent cervix and vagina,,,,,,,,,,, +GARD:20179,Active,Orphanet,ORPHA:180114,Disorder,[Morphological anomaly],Unicervical bicornuate uterus,,,,,,,,,,, +GARD:20180,Active,Orphanet,ORPHA:180122,Group of disorders,[Clinical group],Septate uterus,,,,,,,,,,, +GARD:20181,Active,Orphanet,ORPHA:180126,Disorder,[Morphological anomaly],Complete septate uterus,[Total septate uterus],"Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.",,,,,,,,, +GARD:20182,Active,Orphanet,ORPHA:180129,Disorder,[Morphological anomaly],Partial septate uterus,"[Subtotal septate uterus, Uterus subseptus]","Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.",,,,,,,,, +GARD:20183,Active,Orphanet,ORPHA:180134,Group of disorders,[Clinical group],Bicornuate uterus,,,,,,,,,,, +GARD:20184,Active,Orphanet,ORPHA:180139,Disorder,[Morphological anomaly],Uterine hypoplasia,,"A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, and infertility.",,,,,,,,, +GARD:20185,Active,Orphanet,ORPHA:180142,Disorder,[Morphological anomaly],Absence of uterine body,,"A rare, non-syndromic, uterovaginal malformation characterized by underdevelopment of the uterus, ranging from complete absence to the presence of bilateral rudimentary horns with or without a cavity. Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility.",,,,,,,,, +GARD:20186,Active,Orphanet,ORPHA:180145,Disorder,[Morphological anomaly],Uterine cervical aplasia and agenesis,,"A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems.",,,,,,,,, +GARD:20187,Active,Orphanet,ORPHA:180148,Group of disorders,[Category],Syndromic uterovaginal malformation,,,,,,,,,,, +GARD:20188,Active,Orphanet,ORPHA:180151,Group of disorders,[Category],Rare vaginal malformation,,,,,,,,,,, +GARD:20189,Active,Orphanet,ORPHA:180154,Disorder,[Morphological anomaly],Septate vagina,,A rare vaginal malformation characterized by the presence of a complete or incomplete longitudinal or transverse septum in the vagina due to disrupted fusion or canalization of the solid vaginal plate during embryogenesis. Signs and symptoms depend on the type of septum.,,,,,,,,, +GARD:2019,Active,Orphanet,ORPHA:1822,Disorder,[Malformation syndrome],Dysplasia epiphysealis hemimelica,[Trevor disease],"A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint.",[127800],,,,,Dysplasia epiphysealis hemimelica,TRUE,FALSE,Active +GARD:20190,Active,Orphanet,ORPHA:180157,Subtype of disorder,[Clinical subtype],Longitudinal vaginal septum,,"A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities.",,,,,,,,, +GARD:20191,Active,Orphanet,ORPHA:180160,Subtype of disorder,[Clinical subtype],Transverse vaginal septum,,"A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea.",,,,,,,,, +GARD:20192,Active,Orphanet,ORPHA:180163,Group of disorders,[Category],Rare breast malformation,,,,,,,,,,, +GARD:20193,Active,Orphanet,ORPHA:180170,Group of disorders,[Category],Excess breast volume or number,,,,,,,,,,, +GARD:20194,Active,Orphanet,ORPHA:180173,Group of disorders,[Category],Deficient breast volume or number,,,,,,,,,,, +GARD:20195,Active,Orphanet,ORPHA:180182,Disorder,[Morphological anomaly],Supernumerary breasts,"[Accessory breasts, Polymastia]","A rare breast malformation characterized by the presence of accessory breasts with a complete ductal system, areola, and nipple in addition to two normal breasts. The accessory breast tissue mostly lies along the milk lines. It is often not recognized until puberty, when it begins to respond to regular hormonal fluctuations, and may develop the same changes as normal breasts throughout life.",,,,,,,,, +GARD:20196,Active,Orphanet,ORPHA:180193,Group of disorders,[Category],Syndromic breast hypoplasia/aplasia,,,,,,,,,,, +GARD:20197,Active,Orphanet,ORPHA:180199,Group of disorders,[Category],Rare non-malformative gynecologic or obstetric disease,,,,,,,,,,, +GARD:20198,Active,Orphanet,ORPHA:180202,Group of disorders,[Category],Rare non-malformative breast disease,,,,,,,,,,, +GARD:20199,Active,Orphanet,ORPHA:180205,Group of disorders,[Category],Rare non-malformative uterovaginal or vulvovaginal disease,,,,,,,,,,, +GARD:202,Legacy,GARD,,,,,,,,,,,,Maxillary double lip,TRUE,FALSE,Retired +GARD:20200,Active,Orphanet,ORPHA:180208,Group of disorders,[Category],Anomaly of puberty or/and menstrual cycle,,,,,,,,,,, +GARD:20201,Active,Orphanet,ORPHA:180220,Group of disorders,[Category],Rare uterine adnexal tumor,,,,,,,,,,, +GARD:20202,Active,Orphanet,ORPHA:180234,Disorder,[Disease],Mixed germ cell tumor,,"A rare germ cell tumor characterized by composition of two or more malignant germ cell components, the most common combination being dysgerminoma and yolk sac tumor. The tumors typically occur between childhood and young adulthood. They are usually located in the gonads, occasionally also in other regions. Clinical presentation corresponds to the individual germ cell components and the tumor location; manifestations may include abdominal pain, abdominal mass, and menstrual disorder in females, and a testicular mass in males. The most important prognostic factor is tumor stage.",,,,,,,,, +GARD:20203,Active,Orphanet,ORPHA:180237,Disorder,[Disease],Benign tumor of fallopian tubes,,A group of rare uterine adnexal tumors comprising non-metastasizing neoplasms arising from the fallopian tube. This includes epithelial tumors (benign serous tumors such as serous adenofibroma and papilloma) and mature teratomas. Patients may be asymptomatic or present with tubal obstruction.,,,,,,,,, +GARD:20204,Active,Orphanet,ORPHA:180242,Disorder,[Disease],Malignant tumor of fallopian tubes,"[Cancer of fallopian tubes, Malignant tubal tumor, Tubal cancer]",,,,,,,,,, +GARD:20205,Active,Orphanet,ORPHA:180250,Group of disorders,[Category],Rare breast tumor,,,,,,,,,,, +GARD:20206,Active,Orphanet,ORPHA:180267,Disorder,[Disease],Giant adenofibroma of the breast,,"Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.",,,,,,,,, +GARD:20207,Active,Orphanet,ORPHA:180303,Group of disorders,[Category],Rare non-malformative uterine adnexal disease,,,,,,,,,,, +GARD:20208,Active,Orphanet,ORPHA:180312,Group of disorders,[Category],Rare vulvovaginal tumor,,,,,,,,,,, +GARD:20209,Active,Orphanet,ORPHA:180766,Group of disorders,[Category],Malformative syndrome with dentinogenesis imperfecta,,,,,,,,,,, +GARD:20211,Active,Orphanet,ORPHA:180776,Group of disorders,[Category],Non-syndromic diaphragmatic or thoracic malformation,,,,,,,,,,, +GARD:20212,Active,Orphanet,ORPHA:180779,Group of disorders,[Category],Syndromic diaphragmatic or thoracic malformation,,,,,,,,,,, +GARD:20213,Active,Orphanet,ORPHA:180821,Group of disorders,[Category],Rare gastroesophageal tumor,,,,,,,,,,, +GARD:20214,Active,Orphanet,ORPHA:181368,Group of disorders,[Category],Rare insulin-resistance syndrome,,,,,,,,,,, +GARD:20215,Active,Orphanet,ORPHA:181371,Group of disorders,[Category],Rare diabetes mellitus type 1,[Rare insulin-dependent diabetes mellitus],,,,,,,,,, +GARD:20216,Active,Orphanet,ORPHA:181376,Group of disorders,[Category],Rare diabetes mellitus type 2,[Rare insulin-independent diabetes mellitus],,,,,,,,,, +GARD:20217,Active,Orphanet,ORPHA:181381,Group of disorders,[Category],Other rare diabetes mellitus,,,,,,,,,,, +GARD:20218,Active,Orphanet,ORPHA:181384,Group of disorders,[Category],Rare hypothalamic or pituitary disease,,,,,,,,,,, +GARD:20219,Active,Orphanet,ORPHA:181387,Group of disorders,[Category],Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism,,,,,,,,,,, +GARD:2022,Active,Orphanet,ORPHA:2204,Disorder,[Malformation syndrome],Dysplastic cortical hyperostosis,[Kozlowski-Tsuruta syndrome],"Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.",,,,,,Dysplastic cortical hyperostosis,TRUE,FALSE,Active +GARD:20220,Active,Orphanet,ORPHA:181390,Group of disorders,[Category],Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature,,,,,,,,,,, +GARD:20221,Active,Orphanet,ORPHA:181396,Group of disorders,[Category],Rare hypothyroidism,,,,,,,,,,, +GARD:20222,Active,Orphanet,ORPHA:181399,Group of disorders,[Category],Rare hyperthyroidism,,,,,,,,,,, +GARD:20223,Active,Orphanet,ORPHA:181402,Group of disorders,[Category],Syndrome with hypoparathyroidism,,,,,,,,,,, +GARD:20224,Active,Orphanet,ORPHA:181405,Group of disorders,[Category],Rare hypoparathyroidism,,,,,,,,,,, +GARD:20225,Active,Orphanet,ORPHA:181408,Group of disorders,[Category],Rare hyperparathyroidism,,,,,,,,,,, +GARD:20226,Active,Orphanet,ORPHA:181412,Group of disorders,[Category],Adrenogenital syndrome,,,,,,,,,,, +GARD:20227,Active,Orphanet,ORPHA:181415,Group of disorders,[Category],Rare primary hyperaldosteronism,[Rare primary aldosteronism],,,,,,,,,, +GARD:20228,Active,Orphanet,ORPHA:181419,Group of disorders,[Category],Rare hypoaldosteronism,,,,,,,,,,, +GARD:20229,Active,Orphanet,ORPHA:181422,Group of disorders,[Category],Rare hyperlipidemia,,,,,,,,,,, +GARD:20230,Active,Orphanet,ORPHA:181428,Group of disorders,[Clinical group],Hyperalphalipoproteinemia,,,,,,,,,,, +GARD:20231,Active,Orphanet,ORPHA:181431,Group of disorders,[Category],Rare hypolipidemia,,,,,,,,,,, +GARD:20232,Active,Orphanet,ORPHA:181437,Group of disorders,[Category],Rare syndromic dyslipidemia,,,,,,,,,,, +GARD:20233,Active,Orphanet,ORPHA:181441,Group of disorders,[Category],Rare disorder with hypergonadotropic hypogonadism,[Rare disorder with primary hypogonadism],,,,,,,,,, +GARD:20234,Active,Orphanet,ORPHA:182040,Group of disorders,[Category],Aplastic anemia,,,,,,,,,,, +GARD:20235,Active,Orphanet,ORPHA:182043,Group of disorders,[Category],Rare constitutional hemolytic anemia,,,,,,,,,,, +GARD:20236,Active,Orphanet,ORPHA:182047,Group of disorders,[Category],Rare acquired hemolytic anemia,,,,,,,,,,, +GARD:20237,Active,Orphanet,ORPHA:182054,Group of disorders,[Category],Rare thrombotic disease of hematologic origin,,,,,,,,,,, +GARD:20238,Active,Orphanet,ORPHA:182061,Group of disorders,[Category],Cerebellar malformation,,,,,,,,,,, +GARD:20239,Active,Orphanet,ORPHA:182064,Group of disorders,[Category],Rare neuroinflammatory or neuroimmunological disease,,,,,,,,,,, +GARD:20240,Active,Orphanet,ORPHA:182070,Group of disorders,[Category],Rare neurodegenerative disease,,,,,,,,,,, +GARD:20241,Active,Orphanet,ORPHA:182079,Group of disorders,[Clinical group],ARX-related epileptic encephalopathy,,,,,,,,,,, +GARD:20242,Active,Orphanet,ORPHA:182083,Group of disorders,[Category],Channelopathy with epilepsy,,,,,,,,,,, +GARD:20243,Active,Orphanet,ORPHA:182086,Group of disorders,[Category],Acquired peripheral neuropathy,,,,,,,,,,, +GARD:20244,Active,Orphanet,ORPHA:182095,Group of disorders,[Category],Interstitial lung disease,[ILD],,,,,,,,,, +GARD:20245,Active,Orphanet,ORPHA:182098,Group of disorders,[Clinical group],Pneumoconiosis,,,,,,,,,,, +GARD:20246,Active,Orphanet,ORPHA:182101,Group of disorders,[Clinical group],Idiopathic eosinophilic pneumonia,,,,,,,,,,, +GARD:20247,Active,Orphanet,ORPHA:182104,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease,"[CTD-ILD, Secondary ILD in childhood and adulthood associated with a connective tissue disease]",,,,,,,,,, +GARD:20248,Active,Orphanet,ORPHA:182108,Group of disorders,[Category],Thoracic malformation,,,,,,,,,,, +GARD:20249,Active,Orphanet,ORPHA:182111,Group of disorders,[Category],Respiratory malformation,,,,,,,,,,, +GARD:2025,Legacy,GARD,,,,,,,,,,,,Dyssegmental dysplasia and glaucoma,TRUE,FALSE,Active +GARD:20250,Active,Orphanet,ORPHA:182114,Group of disorders,[Category],Rare urogenital tumor,,,,,,,,,,, +GARD:20251,Active,Orphanet,ORPHA:182117,Group of disorders,[Category],Non-syndromic urogenital tract malformation of female,,,,,,,,,,, +GARD:20252,Active,Orphanet,ORPHA:182121,Group of disorders,[Category],Non-syndromic urogenital tract malformation of male,,,,,,,,,,, +GARD:20253,Active,Orphanet,ORPHA:182124,Group of disorders,[Category],Non-syndromic urogenital tract malformation of male and female,,,,,,,,,,, +GARD:20254,Active,Orphanet,ORPHA:182130,Group of disorders,[Category],Tumor of endocrine glands,,,,,,,,,,, +GARD:20255,Active,Orphanet,ORPHA:182222,Group of disorders,[Category],Rare systemic disease,,,,,,,,,,, +GARD:20256,Active,Orphanet,ORPHA:182228,Group of disorders,[Category],Systemic autoimmune disease,,,,,,,,,,, +GARD:20257,Active,Orphanet,ORPHA:182231,Group of disorders,[Category],Rare rheumatologic disease,,,,,,,,,,, +GARD:20258,Active,Orphanet,ORPHA:182734,Group of disorders,[Clinical group],Genetic urticaria,,,,,,,,,,, +GARD:20259,Active,Orphanet,ORPHA:183422,Group of disorders,[Category],Polymalformative genetic syndrome with increased risk of developing cancer,,Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.,,,,,,,,, +GARD:2026,Active,Orphanet,ORPHA:1865,Disorder,[Disease],"Dyssegmental dysplasia, Silverman-Handmaker type",,"Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.",[224410],,,,,Dyssegmental dysplasia Silverman-Handmaker type,TRUE,FALSE,Active +GARD:20260,Active,Orphanet,ORPHA:183426,Group of disorders,[Category],Genetic epidermal disorder,,,,,,,,,,, +GARD:20261,Active,Orphanet,ORPHA:183435,Group of disorders,[Category],Inherited ichthyosis,[Genetic ichthyosis],,,,,,,,,, +GARD:20262,Active,Orphanet,ORPHA:183438,Group of disorders,[Category],Genetic erythrokeratoderma,,,,,,,,,,, +GARD:20263,Active,Orphanet,ORPHA:183441,Group of disorders,[Category],Genetic acrokeratoderma,,,,,,,,,,, +GARD:20264,Active,Orphanet,ORPHA:183444,Group of disorders,[Category],Genetic porokeratosis,,,,,,,,,,, +GARD:20265,Active,Orphanet,ORPHA:183447,Group of disorders,[Category],Genetic epidermal appendage anomaly,,,,,,,,,,, +GARD:20266,Active,Orphanet,ORPHA:183450,Group of disorders,[Category],Genetic hair anomaly,,,,,,,,,,, +GARD:20267,Active,Orphanet,ORPHA:183454,Group of disorders,[Category],Genetic nail anomaly,,,,,,,,,,, +GARD:20268,Active,Orphanet,ORPHA:183460,Group of disorders,[Category],Genetic sebaceous gland anomaly,,,,,,,,,,, +GARD:20269,Active,Orphanet,ORPHA:183463,Group of disorders,[Category],Genetic pigmentation anomaly of the skin,,,,,,,,,,, +GARD:2027,Active,Orphanet,ORPHA:256,Disorder,[Disease],Early-onset generalized limb-onset dystonia,"[Dystonia musculorum deformans, EOTD, Early-onset generalized torsion dystonia, Early-onset isolated dystonia, Early-onset primary dystonia, Early-onset torsion dystonia, Idiopathic torsion dystonia, Oppenheim dystonia]","A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region.","[128100, 602554]",,,,,DYT-TOR1A,TRUE,FALSE,Active +GARD:20270,Active,Orphanet,ORPHA:183466,Group of disorders,[Category],Genetic hyperpigmentation of the skin,,,,,,,,,,, +GARD:20271,Active,Orphanet,ORPHA:183469,Group of disorders,[Category],Genetic hypopigmentation of the skin,,,,,,,,,,, +GARD:20272,Active,Orphanet,ORPHA:183472,Group of disorders,[Category],Genetic dermis disorder,,,,,,,,,,, +GARD:20273,Active,Orphanet,ORPHA:183478,Group of disorders,[Category],Genetic skin vascular disorder,,,,,,,,,,, +GARD:20274,Active,Orphanet,ORPHA:183481,Group of disorders,[Category],Genetic mixed dermis disorder,,,,,,,,,,, +GARD:20275,Active,Orphanet,ORPHA:183484,Group of disorders,[Category],Genetic subcutaneous tissue disorder,,,,,,,,,,, +GARD:20276,Active,Orphanet,ORPHA:183487,Group of disorders,[Category],Genetic skin tumor or hamartoma,,,,,,,,,,, +GARD:20277,Active,Orphanet,ORPHA:183490,Group of disorders,[Category],Genetic photodermatosis,"[Genetic skin photosensitivity, Photogenodermatosis, Photogénodermatose]",,,,,,,,,, +GARD:20278,Active,Orphanet,ORPHA:183494,Group of disorders,[Category],Genetic immune deficiency with skin involvement,,,,,,,,,,, +GARD:20279,Active,Orphanet,ORPHA:183497,Group of disorders,[Category],Genetic neuromuscular disease,,,,,,,,,,, +GARD:2028,Active,Orphanet,ORPHA:99657,Disorder,[Disease],"Primary dystonia, DYT2 type",[DYT2],Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.,[224500],,,,,"Dystonia 2, torsion, autosomal recessive",TRUE,FALSE,Active +GARD:20280,Active,Orphanet,ORPHA:183500,Group of disorders,[Category],Genetic neurodegenerative disease,,,,,,,,,,, +GARD:20281,Active,Orphanet,ORPHA:183503,Group of disorders,[Category],Genetic central nervous system and retinal vascular disease,,,,,,,,,,, +GARD:20282,Active,Orphanet,ORPHA:183506,Group of disorders,[Category],Genetic central nervous system malformation,,,,,,,,,,, +GARD:20283,Active,Orphanet,ORPHA:183509,Group of disorders,[Category],Rare genetic headache,,,,,,,,,,, +GARD:20284,Active,Orphanet,ORPHA:183512,Group of disorders,[Category],Rare genetic epilepsy,,,,,,,,,,, +GARD:20285,Active,Orphanet,ORPHA:183515,Group of disorders,[Category],Rare genetic medullar disease,,,,,,,,,,, +GARD:20286,Active,Orphanet,ORPHA:183518,Group of disorders,[Category],Rare hereditary ataxia,,,,,,,,,,, +GARD:20287,Active,Orphanet,ORPHA:183521,Group of disorders,[Category],Rare genetic movement disorder,,,,,,,,,,, +GARD:20288,Active,Orphanet,ORPHA:183524,Group of disorders,[Category],Rare genetic bone disease,,,,,,,,,,, +GARD:20289,Active,Orphanet,ORPHA:183527,Group of disorders,[Category],Genetic bone tumor,,,,,,,,,,, +GARD:20290,Active,Orphanet,ORPHA:183530,Group of disorders,[Category],Rare genetic developmental defect during embryogenesis,,,,,,,,,,, +GARD:20291,Active,Orphanet,ORPHA:183533,Group of disorders,[Category],Genetic multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:20292,Active,Orphanet,ORPHA:183536,Group of disorders,[Category],Genetic congenital limb malformation,,,,,,,,,,, +GARD:20293,Active,Orphanet,ORPHA:183539,Group of disorders,[Category],Genetic renal or urinary tract malformation,,,,,,,,,,, +GARD:20294,Active,Orphanet,ORPHA:183542,Group of disorders,[Category],Genetic cranial malformation,,,,,,,,,,, +GARD:20295,Active,Orphanet,ORPHA:183545,Group of disorders,[Category],Genetic digestive tract malformation,,,,,,,,,,, +GARD:20296,Active,Orphanet,ORPHA:183548,Group of disorders,[Category],"Genetic visceral malformation of the liver, biliary tract, pancreas or spleen",,,,,,,,,,, +GARD:20297,Active,Orphanet,ORPHA:183554,Group of disorders,[Category],Genetic respiratory or mediastinal malformation,,,,,,,,,,, +GARD:20298,Active,Orphanet,ORPHA:183557,Group of disorders,[Category],Genetic developmental defect of the eye,,,,,,,,,,, +GARD:20299,Active,Orphanet,ORPHA:183570,Group of disorders,[Category],Genetic malformation syndrome with short stature,,,,,,,,,,, +GARD:203,Legacy,GARD,,,,,,,,,,,,Crohn's disease of the esophagus,TRUE,FALSE,Active +GARD:20300,Active,Orphanet,ORPHA:183573,Group of disorders,[Category],Genetic overgrowth/obesity syndrome,,,,,,,,,,, +GARD:20301,Active,Orphanet,ORPHA:183576,Group of disorders,[Category],Genetic branchial arch or oral-acral syndrome,,,,,,,,,,, +GARD:20302,Active,Orphanet,ORPHA:183580,Group of disorders,[Category],Genetic malformation syndrome with odontal and/or periodontal component,,,,,,,,,,, +GARD:20303,Active,Orphanet,ORPHA:183583,Group of disorders,[Category],Genetic head and neck malformation,,,,,,,,,,, +GARD:20304,Active,Orphanet,ORPHA:183586,Group of disorders,[Category],Genetic glomerular disease,,,,,,,,,,, +GARD:20305,Active,Orphanet,ORPHA:183589,Group of disorders,[Category],Genetic thrombotic microangiopathy,,,,,,,,,,, +GARD:20306,Active,Orphanet,ORPHA:183592,Group of disorders,[Category],Genetic renal tubular disease,,,,,,,,,,, +GARD:20307,Active,Orphanet,ORPHA:183595,Group of disorders,[Category],Genetic renal tumor,,,,,,,,,,, +GARD:20308,Active,Orphanet,ORPHA:183607,Group of disorders,[Category],Genetic lens and zonula anomaly,,,,,,,,,,, +GARD:20309,Active,Orphanet,ORPHA:183616,Group of disorders,[Category],Genetic neuro-ophthalmological disease,,,,,,,,,,, +GARD:2031,Active,Orphanet,ORPHA:207085,Group of disorders,[Category],Qualitative or quantitative defects of dystrophin,[Dystrophinopathy],,,,,,,Dystrophinopathy,TRUE,FALSE,Active +GARD:20310,Active,Orphanet,ORPHA:183619,Group of disorders,[Category],Genetic eye tumor,,,,,,,,,,, +GARD:20311,Active,Orphanet,ORPHA:183622,Group of disorders,[Category],Genetic respiratory malformation,,,,,,,,,,, +GARD:20312,Active,Orphanet,ORPHA:183625,Group of disorders,[Category],Rare genetic diabetes mellitus,,,,,,,,,,, +GARD:20313,Active,Orphanet,ORPHA:183628,Group of disorders,[Category],Rare genetic hypothalamic or pituitary disease,,,,,,,,,,, +GARD:20314,Active,Orphanet,ORPHA:183631,Group of disorders,[Category],Rare genetic thyroid disease,,,,,,,,,,, +GARD:20315,Active,Orphanet,ORPHA:183634,Group of disorders,[Category],Rare genetic parathyroid disease and phosphocalcic metabolism disorder,,,,,,,,,,, +GARD:20316,Active,Orphanet,ORPHA:183637,Group of disorders,[Category],Rare genetic adrenal disease,,,,,,,,,,, +GARD:20317,Active,Orphanet,ORPHA:183643,Group of disorders,[Category],Genetic polyendocrinopathy,,,,,,,,,,, +GARD:20318,Active,Orphanet,ORPHA:183651,Group of disorders,[Category],Rare constitutional anemia,,,,,,,,,,, +GARD:20319,Active,Orphanet,ORPHA:183654,Group of disorders,[Category],Rare genetic coagulation disorder,,,,,,,,,,, +GARD:2032,Legacy,GARD,,,,,,,,,,,,EAF,TRUE,FALSE,Active +GARD:20320,Active,Orphanet,ORPHA:183669,Group of disorders,[Category],Agammaglobulinemia,,,,,,,,,,, +GARD:20321,Active,Orphanet,ORPHA:183681,Group of disorders,[Category],Functional neutrophil defect,,,,,,,,,,, +GARD:20322,Active,Orphanet,ORPHA:183710,Group of disorders,[Category],Genetic susceptibility to infections due to particular pathogens,,,,,,,,,,, +GARD:20323,Active,Orphanet,ORPHA:183731,Group of disorders,[Category],Rare genetic gynecological and obstetrical diseases,,,,,,,,,,, +GARD:20324,Active,Orphanet,ORPHA:183734,Group of disorders,[Category],Genetic gynecological tumor,,,,,,,,,,, +GARD:20325,Active,Orphanet,ORPHA:183757,Group of disorders,[Category],Rare genetic intellectual disability,,,,,,,,,,, +GARD:20326,Active,Orphanet,ORPHA:183763,Group of disorders,[Category],Rare genetic syndromic intellectual disability,,,,,,,,,,, +GARD:20327,Active,Orphanet,ORPHA:183770,Group of disorders,[Category],Rare genetic immune disease,,,,,,,,,,, +GARD:20328,Active,Orphanet,ORPHA:199257,Group of disorders,[Clinical group],Superficial fibromatosis,,,,,,,,,,, +GARD:20329,Active,Orphanet,ORPHA:199260,Disorder,[Disease],Calcifying aponeurotic fibroma,"[Juvenile aponeurotic fibromatosis, Keasby tumor]","A rare, superficial fibromatosis characterized by non-malignant, locally invading, fibrosing tumour of differentiated fibroblasts, slowly growing subcutaneously, occurring predominantly distally on the extremities, especially the hands and feet. Histologic examination shows a multinodular pattern with large areas of calcification and fibrosis, and the presence of elongated spindle cells with hyperchromatic plump vesicular nuclei interspersed within fine bands of collagen.",,,,,,,,, +GARD:2033,Active,Orphanet,ORPHA:2554,Disorder,[Malformation syndrome],Ear-patella-short stature syndrome,[Meier-Gorlin syndrome],"A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).","[613803, 613800, 616835, 617063, 613804, 224690, 613805]",,,,,Meier-Gorlin syndrome,TRUE,FALSE,Active +GARD:20330,Active,Orphanet,ORPHA:199293,Disorder,[Morphological anomaly],Congenital microgastria,,"Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.",,,,,,,,, +GARD:20331,Active,Orphanet,ORPHA:199299,Disorder,[Disease],Late-onset isolated ACTH deficiency,,"Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.",,,,,,,,, +GARD:20332,Active,Orphanet,ORPHA:199310,Disorder,[Malformation syndrome],Tetragametic chimerism,"[46,XX/46,XY chimerism]","A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.",,,,,,,,, +GARD:20333,Active,Orphanet,ORPHA:199323,Disorder,[Disease],Endophthalmitis,,"A rare ophthalmic disorder characterized by inflammation involving the vitreous and/or aqueous humors, usually due to bacterial or fungal infection. It may arise endogenously from hematogenous spread of the infectious agent, or exogenously after direct inoculation, and can take an acute or chronic course. Clinical signs and symptoms include progressive vitritis, hypopyon, reduced or blurred vision, red eye, pain, and lid swelling. The condition may be complicated by panophthalmitis, corneal infiltration and perforation, affection of orbital structures, and phthisis bulbi.",,,,,,,,, +GARD:20334,Active,Orphanet,ORPHA:199326,Disorder,[Disease],"Isolated autosomal dominant hypomagnesemia, Glaudemans type",,"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.",,,,,,,,, +GARD:20335,Active,Orphanet,ORPHA:199329,Disorder,[Disease],"Congenital myopathy, Paradas type",,"A rare congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.",,,,,,,,, +GARD:20336,Active,Orphanet,ORPHA:199627,Disorder,[Disease],Atypical autism,,"A rare, pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior.",,,,,,,,, +GARD:20337,Active,Orphanet,ORPHA:199630,Disorder,[Morphological anomaly],Isolated cerebellar vermis hypoplasia,,"Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.",,,,,,,,, +GARD:20338,Active,Orphanet,ORPHA:199633,Group of disorders,[Category],Non-syndromic cerebral malformation,[Non-syndromic brain malformation],,,,,,,,,, +GARD:20339,Active,Orphanet,ORPHA:199639,Group of disorders,[Category],Syndrome with corpus callosum agenesis/dysgenesis as a major feature,,,,,,,,,,, +GARD:2034,Legacy,GARD,,,,,,,,,,,,Thickened earlobes-conductive deafness syndrome,TRUE,FALSE,Active +GARD:20340,Active,Orphanet,ORPHA:200037,Group of disorders,[Clinical group],Paroxysmal dystonia,,,,,,,,,,, +GARD:20341,Active,Orphanet,ORPHA:202940,Group of disorders,[Category],Anomaly of puberty or/and menstrual cycle of genetic origin,,,,,,,,,,, +GARD:20342,Active,Orphanet,ORPHA:202948,Group of disorders,[Category],Syndromic microphthalmia-anophthalmia-coloboma,[Syndromic microphthalmia],,,,,,,,,, +GARD:20343,Active,Orphanet,ORPHA:206436,Subtype of disorder,[Clinical subtype],Infantile Krabbe disease,"[Krabbe disease, classic form, Krabbe disease, early-onset]",,,,,,,,,, +GARD:20344,Active,Orphanet,ORPHA:206443,Subtype of disorder,[Clinical subtype],Late-infantile/juvenile Krabbe disease,"[Krabbe disease, late-onset]",,,,,,,,,, +GARD:20345,Active,Orphanet,ORPHA:206448,Subtype of disorder,[Clinical subtype],Adult Krabbe disease,,,,,,,,,,, +GARD:20346,Active,Orphanet,ORPHA:206470,Disorder,[Disease],Cystadenoma of childhood,[Cystadenoma of ovary in childhood],"A benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.",,,,,,,,, +GARD:20347,Active,Orphanet,ORPHA:206489,Disorder,[Disease],Malignant germ cell tumor of the vagina,"[Vaginal germ cell cancer, Vaginal germ cell malignant tumor]","Malignant germ cell tumor of the vagina is an extremely rare, malignant, vulvovaginal neoplasm, deriving from primordial germ cells in the vagina, typically characterized by painless bloody vaginal discharge and a polypoid mass which protrudes from the vagina. Serum alpha-fetoprotein is usually elevated and rapid progression, local agression and early metastasis to liver and lungs is reported.",,,,,,,,, +GARD:20348,Active,Orphanet,ORPHA:206492,Disorder,[Disease],Vulvovaginal rhabdomyosarcoma,,"Vulvovaginal rhabdomyosarcoma is a rare vulvovaginal tumour, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration.",,,,,,,,, +GARD:20349,Active,Orphanet,ORPHA:206538,Disorder,[Disease],Malignant non-dysgerminomatous germ cell tumor of ovary,[Non-dysgerminomatous germ cell cancer of ovary],"Malignant non-dysgerminomatous germ cell tumor of ovary is a rare malignant germ cell tumor of ovary (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilization, hyperthyroidism or carcinoid syndrome (see this term). Histologically they comprise the following: embryonal carcinoma, Yolk sac tumor, polyembryoma and mixed germ cell tumor.",,,,,,,,, +GARD:2035,Active,Orphanet,ORPHA:319218,Disorder,[Disease],Ebola hemorrhagic fever,"[EHF, Ebola fever, Ebola virus disease]","Ebola hemorrhagic fever (EHF), caused by Ebola virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.",,,,,,Ebola virus disease,TRUE,FALSE,Active +GARD:20350,Active,Orphanet,ORPHA:206546,Disorder,[Disease],Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,,"A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.",,,,,,,,, +GARD:20351,Active,Orphanet,ORPHA:206569,Disorder,[Disease],Immune-mediated necrotizing myopathy,"[Anti-HMG-CoA myopathy, Anti-SRP myopathy, Autoimmune necrotizing myositis, IMNM, Immune myopathy with myocyte necrosis, NAM]","A rare form of idiopathic inflammatory myopathy characterized by acute or subacute, severe, symmetrical, proximal muscle weakness usually associated with muscle-specific antibodies (anti-HMGCR or anti-SRP). Histopathological characteristics include myocyte necrosis and regeneration without significant inflammation, and C5b-9 deposition on non-necrotic myofibers.",,,,,,,,, +GARD:20352,Active,Orphanet,ORPHA:206572,Disorder,[Disease],Overlap myositis,"[Adult-onset overlap myositis, Non-specific myositis]","A rare idiopathic inflammatory myopathy (IIM) with a heterogeneous phenotype characterized by myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud's phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE).",,,,,,,,, +GARD:20353,Active,Orphanet,ORPHA:206575,Disorder,[Disease],Rippling muscle disease with myasthenia gravis,"[Acquired rippling muscle disease, Immune-mediated rippling muscle disease]","Rippling muscle disease with myasthenia gravis is a rare, acquired, neuromuscular disease characterized by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically-silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea).",,,,,,,,, +GARD:20354,Active,Orphanet,ORPHA:206586,Disorder,[Disease],Neurolymphomatosis,,"Neurolymphomatosis is a rare syndrome of peripheral and cranial nerve dysfunction in patients with hematologic malignancies, mostly non-Hodgkin's lymphoma or acute leukemia, characterized by painful or painless involvement of peripheral or cranial nerves or nerve roots. The clinical presentation is diverse depending on the site involved and includes plexopathy, mononeuritis multiplex, peripheral neuropathy, radiculopathy and cranial nerve palsies.",,,,,,,,, +GARD:20355,Active,Orphanet,ORPHA:206594,Disorder,[Disease],Subacute inflammatory demyelinating polyneuropathy,[Subacute inflammatory demyelinating polyradiculoneuropathy],"Subacute inflammatory demyelinating polyneuropathy (SIDP) is a subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP; see these terms).",,,,,,,,, +GARD:20356,Active,Orphanet,ORPHA:206599,Disorder,[Biological anomaly],Isolated asymptomatic elevation of creatine phosphokinase,"[Idiopathic asymptomatic hyperCKemia, Isolated asymptomatic hyperCKemia]","A rare neurologic biological anomaly characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.",,,,,,,,, +GARD:20357,Active,Orphanet,ORPHA:206613,Group of disorders,[Category],Infectious disease with peripheral neuropathy,,,,,,,,,,, +GARD:20358,Active,Orphanet,ORPHA:206634,Group of disorders,[Category],Genetic skeletal muscle disease,,,,,,,,,,, +GARD:20359,Active,Orphanet,ORPHA:206638,Group of disorders,[Category],Acquired skeletal muscle disease,,,,,,,,,,, +GARD:20360,Active,Orphanet,ORPHA:206644,Group of disorders,[Category],Progressive muscular dystrophy,,,,,,,,,,, +GARD:20361,Active,Orphanet,ORPHA:206650,Group of disorders,[Category],Autosomal dominant distal myopathy,,,,,,,,,,, +GARD:20362,Active,Orphanet,ORPHA:206653,Group of disorders,[Category],Autosomal recessive distal myopathy,,,,,,,,,,, +GARD:20363,Active,Orphanet,ORPHA:206656,Group of disorders,[Category],Non-dystrophic myopathy,,,,,,,,,,, +GARD:20364,Active,Orphanet,ORPHA:206662,Group of disorders,[Category],Inclusion myopathy,,,,,,,,,,, +GARD:20365,Active,Orphanet,ORPHA:206701,Group of disorders,[Category],Bulbospinal muscular atrophy,,,,,,,,,,, +GARD:20366,Active,Orphanet,ORPHA:206704,Group of disorders,[Clinical group],Bulbospinal muscular atrophy of childhood,,,,,,,,,,, +GARD:20367,Active,Orphanet,ORPHA:206707,Group of disorders,[Clinical group],Bulbospinal muscular atrophy of adult,,,,,,,,,,, +GARD:20368,Active,Orphanet,ORPHA:206710,Group of disorders,[Clinical group],Generalized bulbospinal muscular atrophy,,,,,,,,,,, +GARD:20369,Active,Orphanet,ORPHA:206953,Group of disorders,[Category],Muscular lipidosis,[Lipid storage myopathy],,,,,,,,,, +GARD:20370,Active,Orphanet,ORPHA:206959,Group of disorders,[Clinical group],Muscular glycogenosis,[Glycogen storage myopathy],,,,,,,,,, +GARD:20371,Active,Orphanet,ORPHA:206966,Group of disorders,[Category],Mitochondrial myopathy,,,,,,,,,,, +GARD:20372,Active,Orphanet,ORPHA:206970,Group of disorders,[Category],Myotonic syndrome,,,,,,,,,,, +GARD:20373,Active,Orphanet,ORPHA:206973,Group of disorders,[Clinical group],Congenital myotonia,,,,,,,,,,, +GARD:20374,Active,Orphanet,ORPHA:206976,Group of disorders,[Clinical group],Periodic paralysis,,,,,,,,,,, +GARD:20375,Active,Orphanet,ORPHA:206982,Group of disorders,[Category],Muscular tumor,,,,,,,,,,, +GARD:20376,Active,Orphanet,ORPHA:206988,Group of disorders,[Category],"Infectious, fungal or parasitic myopathy",,,,,,,,,,, +GARD:20377,Active,Orphanet,ORPHA:206991,Disorder,[Disease],Viral myositis,,"A rare acquired skeletal muscle disease characterized by sudden onset of muscle weakness, tenderness, and pain during or following recovery from a viral illness. The most commonly reported underlying viral infections are influenza B and A, the latter being the significantly less frequent cause. Most cases occur in children. Symptoms are often limited to the calf muscles, but other muscle groups may be involved as well. The condition is typically self-limiting, resolving within several days, although rhabdomyolysis with renal failure and compartment syndrome have been reported.",,,,,,,,, +GARD:20378,Active,Orphanet,ORPHA:206994,Disorder,[Disease],Bacterial myositis,,"A rare acquired skeletal muscle disease characterized by diffuse muscle infection without an intramuscular abscess. Although a wide variety of bacteria can be causative, the majority of cases are due to streptococcal infection. Signs and symptoms depend on the underlying infectious agent and include muscular pain, swelling, weakness, rash, acute rhabdomyolysis, myonecrosis, and gangrene.",,,,,,,,, +GARD:20379,Active,Orphanet,ORPHA:206997,Group of disorders,[Category],Parasitic myositis,,,,,,,,,,, +GARD:2038,Legacy,GARD,,,,,,,,,,,,Basan syndrome,TRUE,FALSE,Retired +GARD:20380,Active,Orphanet,ORPHA:207000,Disorder,[Disease],Fungal myositis,,"A rare acquired skeletal muscle disease characterized by inflammation of a muscle due to infection with a fungus, usually occurring in an immunocompromised host. General symptoms are pain, tenderness, swelling, and/or weakness in the affected muscle. Most common causative agent are Candida species, with myositis developing in the setting of systemic candidiasis, typically as diffuse, multiple microabscesses. Other fungal pathogens potentially causing myositis are Cryptococcus neoformans, Histoplasma capsulatum, Coccidioides species, or Aspergillus species, among others.",,,,,,,,, +GARD:20381,Active,Orphanet,ORPHA:207012,Group of disorders,[Clinical group],Spinal muscular atrophy associated with central nervous system anomaly,,,,,,,,,,, +GARD:20382,Active,Orphanet,ORPHA:207018,Group of disorders,[Category],Rare hereditary metabolic disease with peripheral neuropathy,,,,,,,,,,, +GARD:20383,Active,Orphanet,ORPHA:207021,Group of disorders,[Category],Rare hereditary systemic disease with peripheral neuropathy,,,,,,,,,,, +GARD:20384,Active,Orphanet,ORPHA:207025,Group of disorders,[Category],Rare hereditary neurologic disease with peripheral neuropathy,,,,,,,,,,, +GARD:20385,Active,Orphanet,ORPHA:207028,Group of disorders,[Category],Cerebellar ataxia with peripheral neuropathy,,,,,,,,,,, +GARD:20386,Active,Orphanet,ORPHA:207038,Group of disorders,[Category],Acute and subacute inflammatory demyelinating polyneuropathy,[Acute and subacute inflammatory demyelinating polyradiculoneuropathy],,,,,,,,,, +GARD:20387,Active,Orphanet,ORPHA:207046,Group of disorders,[Category],Malignant lymphoma with peripheral neuropathy,,,,,,,,,,, +GARD:20388,Active,Orphanet,ORPHA:207049,Group of disorders,[Category],Qualitative or quantitative protein defects in neuromuscular diseases,,,,,,,,,,, +GARD:20389,Active,Orphanet,ORPHA:207052,Group of disorders,[Category],Qualitative or quantitative defects of sarcoglycan,[Sarcoglycanopathy],,,,,,,,,, +GARD:2039,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia adrenal cyst,TRUE,FALSE,Retired +GARD:20390,Active,Orphanet,ORPHA:207060,Group of disorders,[Category],Qualitative or quantitative defects of alpha-sarcoglycan,,,,,,,,,,, +GARD:20391,Active,Orphanet,ORPHA:207063,Group of disorders,[Category],Qualitative or quantitative defects of beta-sarcoglycan,,,,,,,,,,, +GARD:20392,Active,Orphanet,ORPHA:207067,Group of disorders,[Category],Qualitative or quantitative defects of gamma-sarcoglycan,,,,,,,,,,, +GARD:20393,Active,Orphanet,ORPHA:207070,Group of disorders,[Category],Qualitative or quantitative defects of delta-sarcoglycan,,,,,,,,,,, +GARD:20394,Active,Orphanet,ORPHA:207078,Group of disorders,[Category],Qualitative or quantitative defects of caveolin-3,[Caveolinopathy],,,,,,,,,, +GARD:20395,Active,Orphanet,ORPHA:207090,Group of disorders,[Category],Qualitative or quantitative defects of collagen 6,,,,,,,,,,, +GARD:20396,Active,Orphanet,ORPHA:207094,Group of disorders,[Category],Laminin subunit alpha 2-related muscular dystrophy,"[LAMA2-related muscular dystrophy, Qualitative or quantitative defects of merosin]",,,,,,,,,, +GARD:20397,Active,Orphanet,ORPHA:207098,Group of disorders,[Category],Qualitative or quantitative defects of integrin alpha-7,[Integrinopathy],,,,,,,,,, +GARD:20398,Active,Orphanet,ORPHA:207101,Group of disorders,[Category],Qualitative or quantitative defects of perlecan,,,,,,,,,,, +GARD:20399,Active,Orphanet,ORPHA:207104,Group of disorders,[Category],Qualitative or quantitative defects of calpain,,,,,,,,,,, +GARD:204,Legacy,GARD,,,,,,,,,,,,Dieterich's disease,TRUE,FALSE,Active +GARD:2040,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia alopecia preaxial polydactyly,TRUE,FALSE,Active +GARD:20400,Active,Orphanet,ORPHA:207107,Group of disorders,[Category],Qualitative or quantitative defects of TRIM32,,,,,,,,,,, +GARD:20401,Active,Orphanet,ORPHA:207110,Group of disorders,[Category],Qualitative or quantitative defects of myotubularin,,,,,,,,,,, +GARD:20402,Active,Orphanet,ORPHA:207113,Group of disorders,[Category],Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan,"[Secondary alpha-dystroglycanopathy, Secondary dystroglycanopathy]",,,,,,,,,, +GARD:20403,Active,Orphanet,ORPHA:207119,Group of disorders,[Category],Qualitative or quantitative defects of FKRP,,,,,,,,,,, +GARD:20404,Active,Orphanet,ORPHA:207122,Group of disorders,[Category],Qualitative or quantitative defects of fukutin,,,,,,,,,,, +GARD:20405,Active,Orphanet,ORPHA:208508,Group of disorders,[Clinical group],Autosomal dominant cerebellar ataxia type II,"[ADCA2, ADCAII, Autosomal dominant cerebellar ataxia type 2]",,,,,,,,,, +GARD:20406,Active,Orphanet,ORPHA:208524,Disorder,[Disease],Herpetiform pemphigus,,"A rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and sometimes vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histology can show an aspect of either pemphigus (superficial or deep), or an intraepidermal infiltrate rich in eosinophils (eosinophilic spongiosis).",,,,,,,,, +GARD:20407,Active,Orphanet,ORPHA:208593,Group of disorders,[Category],Genetic hypoparathyroidism,,,,,,,,,,, +GARD:20408,Active,Orphanet,ORPHA:208596,Group of disorders,[Category],Genetic hyperparathyroidism,,,,,,,,,,, +GARD:20409,Active,Orphanet,ORPHA:208974,Group of disorders,[Clinical group],Chronic acquired demyelinating polyneuropathy,[CADP],,,,,,,,,, +GARD:20410,Active,Orphanet,ORPHA:208978,Group of disorders,[Clinical group],Chronic polyradiculoneuropathy,,,,,,,,,,, +GARD:20411,Active,Orphanet,ORPHA:208981,Disorder,[Disease],Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies,,,,,,,,,,, +GARD:20412,Active,Orphanet,ORPHA:208984,Group of disorders,[Category],Acquired sensory ganglionopathy,[Acquired sensory neuronopathy],,,,,,,,,, +GARD:20413,Active,Orphanet,ORPHA:208989,Disorder,[Disease],Non-paraneoplastic sensory ganglionopathy,[Non-paraneoplastic sensory neuronopathy],,,,,,,,,, +GARD:20414,Active,Orphanet,ORPHA:208999,Disorder,[Disease],Paraneoplastic sensory ganglionopathy,[Paraneoplastic sensory neuronopathy],,,,,,,,,, +GARD:20415,Active,Orphanet,ORPHA:209004,Disorder,[Disease],Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy,,,,,,,,,,, +GARD:20416,Active,Orphanet,ORPHA:209007,Group of disorders,[Category],Systemic inflammatory disease associated with an acquired peripheral neuropathy,,,,,,,,,,, +GARD:20417,Active,Orphanet,ORPHA:209010,Group of disorders,[Category],Peripheral neuropathy associated with monoclonal gammopathy,,,,,,,,,,, +GARD:20418,Active,Orphanet,ORPHA:209013,Group of disorders,[Category],Acquired amyloid peripheral neuropathy,,,,,,,,,,, +GARD:20419,Active,Orphanet,ORPHA:209016,Group of disorders,[Category],Hematological disease associated with an acquired peripheral neuropathy,,,,,,,,,,, +GARD:2042,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia arthrogryposis diabetes mellitus,TRUE,FALSE,Active +GARD:20420,Active,Orphanet,ORPHA:209019,Group of disorders,[Category],Solid tumor associated with an acquired peripheral neuropathy,,,,,,,,,,, +GARD:20421,Active,Orphanet,ORPHA:209024,Group of disorders,[Category],"Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase",[Qualitative or quantitative defects of protein POMGNT1],,,,,,,,,, +GARD:20422,Active,Orphanet,ORPHA:209027,Group of disorders,[Category],Qualitative or quantitative defects of protein glycosyltransferase-like,,,,,,,,,,, +GARD:20423,Active,Orphanet,ORPHA:209030,Group of disorders,[Category],Qualitative or quantitative defects of protein O-mannosyltransferase 1,,,,,,,,,,, +GARD:20424,Active,Orphanet,ORPHA:209033,Group of disorders,[Category],Qualitative or quantitative defects of protein O-mannosyltransferase 2,,,,,,,,,,, +GARD:20425,Active,Orphanet,ORPHA:209038,Group of disorders,[Category],Qualitative or quantitative defects of myofibrillar proteins,,,,,,,,,,, +GARD:20426,Active,Orphanet,ORPHA:209041,Group of disorders,[Category],Qualitative or quantitative defects of desmin,,,,,,,,,,, +GARD:20427,Active,Orphanet,ORPHA:209044,Group of disorders,[Category],Qualitative or quantitative defects of alphaB-cristallin,,,,,,,,,,, +GARD:20428,Active,Orphanet,ORPHA:209047,Group of disorders,[Category],Qualitative or quantitative defects of filamin C,,,,,,,,,,, +GARD:20429,Active,Orphanet,ORPHA:209050,Group of disorders,[Category],Qualitative or quantitative defects of protein ZASP,,,,,,,,,,, +GARD:2043,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia Bartalos type,TRUE,FALSE,Active +GARD:20430,Active,Orphanet,ORPHA:209053,Group of disorders,[Category],Qualitative or quantitative defects of titin,,,,,,,,,,, +GARD:20431,Active,Orphanet,ORPHA:209056,Group of disorders,[Category],Qualitative or quantitative defects of telethonin,,,,,,,,,,, +GARD:20432,Active,Orphanet,ORPHA:209059,Group of disorders,[Category],Qualitative or quantitative defects of alpha-actin,,,,,,,,,,, +GARD:20433,Active,Orphanet,ORPHA:209182,Group of disorders,[Category],Qualitative or quantitative defects of nebulin,,,,,,,,,,, +GARD:20434,Active,Orphanet,ORPHA:209185,Group of disorders,[Category],Qualitative or quantitative defects of beta-myosin heavy chain (MYH7),,,,,,,,,,, +GARD:20435,Active,Orphanet,ORPHA:209188,Group of disorders,[Category],Qualitative or quantitative defects of emerin,,,,,,,,,,, +GARD:20436,Active,Orphanet,ORPHA:209193,Group of disorders,[Category],Qualitative or quantitative defects of selenoprotein N1,,,,,,,,,,, +GARD:20437,Active,Orphanet,ORPHA:209196,Group of disorders,[Category],Qualitative or quantitative defects of plectin,,,,,,,,,,, +GARD:20438,Active,Orphanet,ORPHA:209199,Group of disorders,[Category],Qualitative or quantitative defects of protein SERCA1,,,,,,,,,,, +GARD:20439,Active,Orphanet,ORPHA:209203,Group of disorders,[Category],Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -,,,,,,,,,,, +GARD:2044,Active,Orphanet,ORPHA:1816,Disorder,[Malformation syndrome],Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,"[Berlin syndrome, Ectodermal dysplasia, Berlin type]","Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.",[246500],,,,,Ectodermal dysplasia Berlin type,TRUE,FALSE,Active +GARD:20440,Active,Orphanet,ORPHA:209224,Group of disorders,[Category],Myotilinopathy,[Qualitative or quantitative defects of myotilin],,,,,,,,,, +GARD:20441,Active,Orphanet,ORPHA:209902,Disorder,[Disease],Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,,"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency is a rare, genetic, sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertrigliceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.",,,,,,,,, +GARD:20442,Active,Orphanet,ORPHA:209956,Disorder,[Disease],Idiopathic uveal effusion syndrome,,"Idiopathic uveal effusion syndrome is a rare acquired eye disease characterized by uni- or bilateral abnormal fluid accumulation within the suprachoroidal space, resulting in internal choroidal elevation, in the absence of any known cause, such as decreased intraocular tension, intraocular tumor, intraocular inflammation or nanophtalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment.",,,,,,,,, +GARD:20443,Active,Orphanet,ORPHA:209959,Disorder,[Disease],Phacoanaphylactic uveitis,"[Endophthalmitis phacoanaphylactica, Lens-induced endophthalmitis, Lens-induced iridocyclitis, Lens-induced uveitis, Phacoallergic endophthalmitis, Phacoantigenic endophthalmitis, Phako-anaphylactic endophthalmitis]","A rare ophthalmic disorder characterized by a zonal granulomatous inflammatory reaction centered around the lens secondary to its traumatic rupture. Signs and symptoms include photophobia, ocular irritation or pain, blurred vision, redness, mutton-fat keratic precipitates, posterior synechiae, and sometimes hypopyon. Intraocular pressure may be elevated due to blockage of the trabecular meshwork by inflammatory cells or lens material.",,,,,,,,, +GARD:20444,Active,Orphanet,ORPHA:209964,Disorder,[Disease],Solitary rectal ulcer syndrome,,"Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.",,,,,,,,, +GARD:20445,Active,Orphanet,ORPHA:209973,Disorder,[Disease],Benign nocturnal alternating hemiplegia of childhood,,Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.,,,,,,,,, +GARD:20446,Active,Orphanet,ORPHA:209978,Group of disorders,[Clinical group],Alternating hemiplegia,,,,,,,,,,, +GARD:20447,Active,Orphanet,ORPHA:209989,Disorder,[Disease],Non-papillary transitional cell carcinoma of the bladder,[Non-papillary urothelial carcinoma],,,,,,,,,, +GARD:20448,Active,Orphanet,ORPHA:210133,Disorder,[Disease],Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome,,"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.",,,,,,,,, +GARD:20449,Active,Orphanet,ORPHA:210136,Disorder,[Disease],Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome,,"Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named “trimorphic syndrome” (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.",,,,,,,,, +GARD:2045,Active,Orphanet,ORPHA:1806,Disorder,[Malformation syndrome],Ectodermal dysplasia-blindness syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.",[268320],,,,,Ectodermal dysplasia blindness,TRUE,FALSE,Active +GARD:20450,Active,Orphanet,ORPHA:210576,Disorder,[Disease],Congenital temporomandibular joint ankylosis,[Congenital trismus],"Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.",,,,,,,,, +GARD:20451,Active,Orphanet,ORPHA:210581,Group of disorders,[Category],Temporomandibular joint anomaly,,,,,,,,,,, +GARD:20452,Active,Orphanet,ORPHA:210584,Disorder,[Disease],Spindle cell hemangioma,[Spindle cell hemangioendothelioma],"Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in Kaposi’s sarcoma and located in the dermis and subcutis.",,,,,,,,, +GARD:20453,Active,Orphanet,ORPHA:210589,Group of disorders,[Clinical group],Infantile hemangioma of rare localization,,,,,,,,,,, +GARD:20454,Active,Orphanet,ORPHA:211037,Group of disorders,[Clinical group],Autosomal dominant proximal spinal muscular atrophy,,"A group of rare, genetic, motor neuron disease characterized by childhood or adult onset progressive, predominantly proximal, muscular weakness and wasting. Included diseases are Autosomal dominant adult-onset proximal spinal muscular atrophy, Lower motor neuron syndrome with late-adult onset, and Autosomal dominant childhood-onset proximal spinal muscular atrophy.",,,,,,,,, +GARD:20455,Active,Orphanet,ORPHA:211047,Group of disorders,[Clinical group],Specific learning disability,"[Specific learning difficulty, Specific learning disorder]",,,,,,,,,, +GARD:20456,Active,Orphanet,ORPHA:211053,Group of disorders,[Clinical group],Specific language disorder,[Dysphasia],,,,,,,,,, +GARD:20457,Active,Orphanet,ORPHA:211062,Group of disorders,[Category],Hereditary episodic ataxia,,"Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2.",,,,,,,,, +GARD:20458,Active,Orphanet,ORPHA:211237,Group of disorders,[Category],Rare vascular tumor,,,,,,,,,,, +GARD:20459,Active,Orphanet,ORPHA:211240,Group of disorders,[Category],Genetic vascular anomaly,,,,,,,,,,, +GARD:20460,Active,Orphanet,ORPHA:211243,Group of disorders,[Category],Simple vascular malformation,,,,,,,,,,, +GARD:20461,Active,Orphanet,ORPHA:211247,Group of disorders,[Category],Rare capillary malformation,,,,,,,,,,, +GARD:20462,Active,Orphanet,ORPHA:211252,Group of disorders,[Category],Rare venous malformation,,,,,,,,,,, +GARD:20463,Active,Orphanet,ORPHA:211255,Group of disorders,[Category],Rare lymphatic system anomaly,,,,,,,,,,, +GARD:20464,Active,Orphanet,ORPHA:211266,Group of disorders,[Category],Rare arteriovenous malformation,,,,,,,,,,, +GARD:20465,Active,Orphanet,ORPHA:211277,Group of disorders,[Category],Complex vascular malformation with associated anomalies,[Hemangiolymphangioma],,,,,,,,,, +GARD:20466,Active,Orphanet,ORPHA:213504,Disorder,[Disease],Adenocarcinoma of ovary,[Ovarian adenocarcinoma],,,,,,,,,, +GARD:20467,Active,Orphanet,ORPHA:213517,Group of disorders,[Clinical group],Familial ovarian cancer,[Familial ovarian malignant tumor],,,,,,,,,, +GARD:20468,Active,Orphanet,ORPHA:213524,Disorder,[Disease],Hereditary site-specific ovarian cancer syndrome,,"Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.",,,,,,,,, +GARD:20469,Active,Orphanet,ORPHA:213564,Group of disorders,[Category],Rare uterine cancer,"[Rare cancer of uterus, Rare malignant tumor of uterus, Rare uterine malignant tumor]",,,,,,,,,, +GARD:20470,Active,Orphanet,ORPHA:213569,Group of disorders,[Category],Rare cancer of corpus uteri,[Rare malignant tumor of corpus uteri],,,,,,,,,, +GARD:20471,Active,Orphanet,ORPHA:213574,Disorder,[Disease],Rare variants of adenocarcinoma of the corpus uteri,,,,,,,,,,, +GARD:20472,Active,Orphanet,ORPHA:213589,Group of disorders,[Clinical group],Malignant mixed epithelial and mesenchymal tumor of corpus uteri,[Mixed epithelial and mesenchymal cancer of corpus uteri],,,,,,,,,, +GARD:20473,Active,Orphanet,ORPHA:213600,Disorder,[Disease],Adenosarcoma of the corpus uteri,,"A rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less often abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported.",,,,,,,,, +GARD:20474,Active,Orphanet,ORPHA:213605,Disorder,[Disease],Carcinofibroma of the corpus uteri,,"Carcinofibroma of the corpus uteri is an extremely rare subtype of mixed müllerian tumor characterized by the presence of a uterine neoplasm which simuntaneously presents a malignant epithelial component (carcinomatous glands) and a benign mesenchymal component. Clinical presentation typically includes dysfunctional vaginal bleeding, abnormal vaginal discharge and/or lower abdominal pain.",,,,,,,,, +GARD:20475,Active,Orphanet,ORPHA:213615,Disorder,[Disease],Rhabdomyosarcoma of the corpus uteri,,"Rhabdomyosarcoma of the corpus uteri is an extremely rare, highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported.",,,,,,,,, +GARD:20476,Active,Orphanet,ORPHA:213620,Group of disorders,[Clinical group],Sarcoma of the corpus uteri,,,,,,,,,,, +GARD:20477,Active,Orphanet,ORPHA:213625,Disorder,[Disease],Leiomyosarcoma of the corpus uteri,,"Leiomyosarcoma of the corpus uteri is a rare, malignant, mesenchymal tumor of smooth muscle origin characterized, histologically, by spindle and/or pleomorphic cells, often forming disorganized fascicles, with tumor cell necrosis and, macroscopically, by a large, soft, usually intramural mass with irregular borders and necrotic and hemorrhagic areas, located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and hematuria may also be associated.",,,,,,,,, +GARD:20478,Active,Orphanet,ORPHA:213630,Disorder,[Disease],Primitive neuroectodermal tumor of the corpus uteri,"[Malignant peripheral neuroectodermal tumor of the corpus uteri, Peripheral neuroectodermal cancer of the corpus uteri]","Primitive neuroectodermal tumor of the corpus uteri is a rare cancer of corpus uteri derived from neural crest cells, characterized by small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, poorly circumscribed polypoid mass with necrotic areas and hemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement.",,,,,,,,, +GARD:20479,Active,Orphanet,ORPHA:213716,Disorder,[Disease],Squamous cell carcinoma of the corpus uteri,[Endometrial squamous cell carcinoma],"Squamous cell carcinoma of the corpus uteri is a rare cancer of corpus uteri composed of squamous cells of varying degree of differentiation that usually affects postmenopausal women and presents with abnormal vaginal discharge, dysfunctional bleeding, abdominal pain and distension. It is often associated with cervical stenosis and pyometra.",,,,,,,,, +GARD:2048,Active,Orphanet,ORPHA:1810,Subtype of disorder,[Etiological subtype],Autosomal dominant hypohidrotic ectodermal dysplasia,"[AD-HED, Autosomal dominant anhidrotic ectodermal dysplasia]",,"[614940, 129490, 617337]",,,,,Hypohidrotic ectodermal dysplasia autosomal dominant,TRUE,FALSE,Active +GARD:20480,Active,Orphanet,ORPHA:213721,Disorder,[Disease],Undifferentiated carcinoma of the corpus uteri,[Endometrial undifferentiated carcinoma],"Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.",,,,,,,,, +GARD:20481,Active,Orphanet,ORPHA:213726,Disorder,[Disease],Serous carcinoma of the corpus uteri,[Endometrial serous carcinoma],"A rare high-grade endometrial carcinoma characterized by diffuse, marked nuclear pleomorphism, typically exhibiting complex papillary and/or glandular growth patterns and showing abnormal p53 and diffuse p16 immunohistochemistry. The tumor typically arises in atrophic endometrium or in an endometrial polyp. Most patients present with postmenopausal bleeding. Extrauterine metastasis is present in 40-50% of surgically staged cases, most frequently involving lymph nodes or peritoneal sites and omentum. Patients with extrauterine spread have poor outcomes, while endometrium-limited carcinoma has a better prognosis.",,,,,,,,, +GARD:20482,Active,Orphanet,ORPHA:213731,Disorder,[Disease],High-grade neuroendocrine carcinoma of the corpus uteri,"[High-grade neuroendocrine carcinoma of the uterine corpus, Poorly differentiated neuroendocrine carcinoma of the corpus uteri, Poorly differentiated neuroendocrine carcinoma of the endometrium]","High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.",,,,,,,,, +GARD:20483,Active,Orphanet,ORPHA:213736,Disorder,[Disease],Low-grade neuroendocrine tumor of the corpus uteri,"[Low-grade neuroendocrine tumor of the uterine corpus, Well-differentiated neuroendocrine neoplasm of the endometrium, Well-differentiated neuroendocrine tumor of the corpus uteri, Well-differentiated neuroendocrine tumor of the endometrium]","Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.",,,,,,,,, +GARD:20484,Active,Orphanet,ORPHA:213746,Disorder,[Disease],Transitional cell carcinoma of the corpus uteri,[Endometrial transitional cell carcinoma],"A rare uterine cancer characterized by a usually intracavitary, friable, relatively well-circumscribed tumor located in the corpus uteri, with possible infiltration of the myometrium, composed, microscopically, of cells resembling urothelial transition cells, with a papillary or polypoid growth pattern, typically admixed with another type of carcinoma (frequently endometrial adenocarcinoma), generally manifesting with postmenopausal vaginal bleeding.",,,,,,,,, +GARD:20485,Active,Orphanet,ORPHA:213751,Disorder,[Disease],Malignant germ cell tumor of the corpus uteri,[Germ cell cancer of the corpus uteri],"Malignant germ cell tumor of the corpus uteri is an extremely rare uterine neoplasm characterized by a typically polypoid mass deriving from primordial germ cells localized in the endometrium. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. The malignant teratoma and yolk sac tumor histological subtypes are the most common.",,,,,,,,, +GARD:20486,Active,Orphanet,ORPHA:213761,Group of disorders,[Category],Rare cancer of cervix uteri,"[Rare cervical cancer, Rare cervical malignant tumor, Rare malignant tumor of cervix uteri]",,,,,,,,,, +GARD:20487,Active,Orphanet,ORPHA:213767,Disorder,[Disease],Squamous cell carcinoma of the cervix uteri,[Cervical squamous cell carcinoma],,,,,,,,,, +GARD:20488,Active,Orphanet,ORPHA:213772,Disorder,[Disease],Adenocarcinoma of the cervix uteri,[Cervical adenocarcinoma],,,,,,,,,, +GARD:20489,Active,Orphanet,ORPHA:213777,Disorder,[Disease],High-grade neuroendocrine carcinoma of the cervix uteri,"[High-grade neuroendocrine carcinoma of the uterine cervix, Poorly differentiated neuroendocrine carcinoma of the cervix uteri, Poorly differentiated neuroendocrine cervical carcinoma]","High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.",,,,,,,,, +GARD:2049,Active,Orphanet,ORPHA:1882,Disorder,[Malformation syndrome],Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,"[ANOTHER syndrome, HEDH syndrome]","A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.",[225050],,,,,Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia,TRUE,FALSE,Active +GARD:20490,Active,Orphanet,ORPHA:213782,Group of disorders,[Clinical group],Malignant mixed epithelial and mesenchymal tumor of cervix uteri,"[Cervical malignant mixed epithelial and mesenchymal tumor, Mixed epithelial and mesenchymal cancer of cervix uteri]",,,,,,,,,, +GARD:20491,Active,Orphanet,ORPHA:213787,Disorder,[Disease],Carcinosarcoma of the cervix uteri,"[Cervical carcinosarcoma, Cervical malignant Müllerian mixed tumor, Malignant Müllerian mixed tumor of the cervix uteri]","Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.",,,,,,,,, +GARD:20492,Active,Orphanet,ORPHA:213792,Disorder,[Disease],Adenosarcoma of the cervix uteri,[Cervical adenosarcoma],"A rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.",,,,,,,,, +GARD:20493,Active,Orphanet,ORPHA:213797,Group of disorders,[Clinical group],Sarcoma of cervix uteri,"[Cervical malignant mesenchymal tumor, Cervical sarcoma, Malignant mesenchymal tumor of cervix uteri]",,,,,,,,,, +GARD:20494,Active,Orphanet,ORPHA:213802,Disorder,[Disease],Rhabdomyosarcoma of the cervix uteri,[Cervical rhabdomyosarcoma],"Rhabdomyosarcoma of the cervix uteri is a rare, highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.",,,,,,,,, +GARD:20495,Active,Orphanet,ORPHA:213807,Disorder,[Disease],Leiomyosarcoma of the cervix uteri,[Cervical leiomyosarcoma],"Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.",,,,,,,,, +GARD:20496,Active,Orphanet,ORPHA:213812,Disorder,[Disease],Primitive neuroectodermal tumor of the cervix uteri,"[Cervical malignant peripheral neuroectodermal tumor, Cervical peripheral neuroectodermal cancer, Malignant peripheral neuroectodermal tumor of the cervix uteri, Peripheral neuroectodermal cancer of cervix uteri]","Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.",,,,,,,,, +GARD:20497,Active,Orphanet,ORPHA:213817,Disorder,[Disease],Papillary carcinoma of the cervix uteri,[Cervical papillary carcinoma],,,,,,,,,, +GARD:20498,Active,Orphanet,ORPHA:213823,Disorder,[Disease],Adenoid cystic carcinoma of the cervix uteri,[Cervical adenoid cystic carcinoma],"A rare, highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence.",,,,,,,,, +GARD:20499,Active,Orphanet,ORPHA:213828,Disorder,[Disease],Adenoid basal carcinoma of the cervix uteri,[Cervical adenoid basal carcinoma],"A rare, slow-growing uterine cancer characterized, histologically, by small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk HPV-types (16 and 33) has been reported in some cases.",,,,,,,,, +GARD:2050,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia Margarita type,TRUE,FALSE,Active +GARD:20500,Active,Orphanet,ORPHA:213833,Disorder,[Disease],Glassy cell carcinoma of the cervix uteri,,"Glassy cell carcinoma of the cervix uteri is a rare cancer of the uterine cervix, composed of nests of large neoplastic cells with 'ground glass' cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk HPV-infection (types 18, 16 and 32).",,,,,,,,, +GARD:20501,Active,Orphanet,ORPHA:213837,Disorder,[Disease],Malignant germ cell tumor of the cervix uteri,"[Cervical germ cell cancer, Cervical malignant germ cell tumor, Germ cell cancer of the cervix uteri]","Malignant germ cell tumor of the cervix uteri is an extremely rare uterine neoplasm characterized by a usually polypoid, friable tumor deriving from primordial germ cells located in the uterine cervix. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a cervical mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. Various histological subtypes (incl. dysgerminoma, yolk sac tumor, choriocarcinoma and malignant teratoma) are reported.",,,,,,,,, +GARD:20502,Active,Orphanet,ORPHA:216718,Subtype of disorder,[Clinical subtype],Isolated congenitally uncorrected transposition of the great arteries,[Isolated congenitally uncorrected transposition of the great vessels],,,,,,,,,, +GARD:20503,Active,Orphanet,ORPHA:216729,Subtype of disorder,[Clinical subtype],Congenitally uncorrected transposition of the great arteries with cardiac malformation,"[Congenitally uncorrected transposition of the great vessels with cardiac malformation, TGA with cardiac malformation]",,,,,,,,,, +GARD:20504,Active,Orphanet,ORPHA:216972,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, severe perinatal form",,,,,,,,,,, +GARD:20505,Active,Orphanet,ORPHA:216975,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, severe early infantile neurologic onset",,,,,,,,,,, +GARD:20506,Active,Orphanet,ORPHA:216978,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, late infantile neurologic onset",,,,,,,,,,, +GARD:20507,Active,Orphanet,ORPHA:216981,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, juvenile neurologic onset","[Niemann-Pick disease type C, classic form]",,,,,,,,,, +GARD:20508,Active,Orphanet,ORPHA:216986,Subtype of disorder,[Clinical subtype],"Niemann-Pick disease type C, adult neurologic onset",,,,,,,,,,, +GARD:20509,Active,Orphanet,ORPHA:217064,Disorder,[Particular clinical situation in a disease or syndrome],5-fluorouracil poisoning,[5-fluorouracil intoxication],"A rare intoxication caused by the prolonged, low-dose administration of 5-fluorouracil, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-fluorouracil poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-fluorouracil-related toxicity than men.",,,,,,,,, +GARD:2051,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia intellectual disability CNS malformation,TRUE,FALSE,Active +GARD:20510,Active,Orphanet,ORPHA:217067,Disorder,[Particular clinical situation in a disease or syndrome],Pouchitis,,,,,,,,,,, +GARD:20511,Active,Orphanet,ORPHA:217074,Group of disorders,[Category],Rare carcinoma of pancreas,[Rare pancreatic carcinoma],,,,,,,,,, +GARD:20512,Active,Orphanet,ORPHA:217080,Disorder,[Particular clinical situation in a disease or syndrome],Pulmonary fungal infections in patients deemed at risk,,,,,,,,,,, +GARD:20513,Active,Orphanet,ORPHA:217253,Disorder,[Disease],NMDA receptor encephalitis,"[Limbic encephalitis with N-methyl-D-aspartate receptor antibodies, Limbic encephalitis with NMDA receptor antibodies, N-methyl-D-aspartate receptor encephalitis, NMDARE, anti-NMDA receptor encephalitis]","A rare limbic encephalitis characterized by the presence of autoantibodies against NMDA receptors in serum and cerebrospinal fluid. It may be of paraneoplastic (most commonly associated with ovarian teratoma) or non-paraneoplastic origin and is life-threatening but potentially treatable. Patients present with acute behavioral change, psychosis, and catatonia, rapidly progressing to seizures, memory deficit, dyskinesias, speech problems, and autonomic and breathing dysregulation.",,,,,,,,, +GARD:20514,Active,Orphanet,ORPHA:217399,Disorder,[Disease],Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation,"[Congenital absence of pain with hyperhidrosis, Congenital analgesia with hyperhidrosis, Congenital indifference to pain with hyperhidrosis, Congenital insensitivity to pain with hyperhidrosis]",,,,,,,,,, +GARD:20515,Active,Orphanet,ORPHA:217454,Group of disorders,[Clinical group],Rare hereditary thrombophilia,,,,,,,,,,, +GARD:20516,Active,Orphanet,ORPHA:217557,Disorder,[Disease],Pulmonary interstitial glycogenosis,"[Infantile cellular interstitial pneumonitis, PIG]","Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term).",,,,,,,,, +GARD:20517,Active,Orphanet,ORPHA:217560,Disorder,[Disease],Neuroendocrine cell hyperplasia of infancy,"[NCHI, NEHI]","Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD, see this term) characterized by tachypnea without respiratory failure.",,,,,,,,, +GARD:20518,Active,Orphanet,ORPHA:217569,Group of disorders,[Category],Rare hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20519,Active,Orphanet,ORPHA:217572,Group of disorders,[Category],Glycogen storage disease with hypertrophic cardiomyopathy,"[GSD with hypertrophic cardiomyopathy, Glycogenosis with hypertrophic cardiomyopathy]",,,,,,,,,, +GARD:2052,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia mental retardation syndactyly,TRUE,FALSE,Retired +GARD:20520,Active,Orphanet,ORPHA:217581,Group of disorders,[Category],Lysosomal disease with hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20521,Active,Orphanet,ORPHA:217587,Group of disorders,[Category],Mitochondrial disease with hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20522,Active,Orphanet,ORPHA:217591,Group of disorders,[Category],Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20523,Active,Orphanet,ORPHA:217595,Group of disorders,[Category],Syndrome associated with hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20524,Active,Orphanet,ORPHA:217598,Group of disorders,[Category],Non-familial hypertrophic cardiomyopathy,,,,,,,,,,, +GARD:20525,Active,Orphanet,ORPHA:217607,Group of disorders,[Category],Familial dilated cardiomyopathy,,,,,,,,,,, +GARD:20526,Active,Orphanet,ORPHA:217610,Group of disorders,[Category],Neuromuscular disease with dilated cardiomyopathy,,,,,,,,,,, +GARD:20527,Active,Orphanet,ORPHA:217613,Group of disorders,[Category],Mitochondrial disease with dilated cardiomyopathy,,,,,,,,,,, +GARD:20528,Active,Orphanet,ORPHA:217616,Group of disorders,[Category],Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy,,,,,,,,,,, +GARD:20529,Active,Orphanet,ORPHA:217619,Group of disorders,[Category],Syndrome associated with dilated cardiomyopathy,,,,,,,,,,, +GARD:2053,Legacy,GARD,,,,,,,,,,,,Ectodermal dysplasia neurosensory deafness,TRUE,FALSE,Active +GARD:20530,Active,Orphanet,ORPHA:217629,Group of disorders,[Category],Non-familial dilated cardiomyopathy,,,,,,,,,,, +GARD:20531,Active,Orphanet,ORPHA:217632,Group of disorders,[Category],Restrictive cardiomyopathy,,,,,,,,,,, +GARD:20532,Active,Orphanet,ORPHA:217635,Group of disorders,[Category],Familial restrictive cardiomyopathy,,,,,,,,,,, +GARD:20533,Active,Orphanet,ORPHA:217638,Group of disorders,[Category],Lysosomal disease with restrictive cardiomyopathy,,,,,,,,,,, +GARD:20534,Active,Orphanet,ORPHA:217678,Group of disorders,[Category],Unclassified cardiomyopathy,,,,,,,,,,, +GARD:20535,Active,Orphanet,ORPHA:217720,Group of disorders,[Category],Non-familial restrictive cardiomyopathy,,,,,,,,,,, +GARD:20536,Active,Orphanet,ORPHA:218436,Group of disorders,[Category],Rare cardiac rhythm disease,,,,,,,,,,, +GARD:20537,Active,Orphanet,ORPHA:218439,Group of disorders,[Category],Non-genetic cardiac rhythm disease,,,,,,,,,,, +GARD:20538,Active,Orphanet,ORPHA:220448,Disorder,[Disease],Macrothrombocytopenia with mitral valve insufficiency,,"Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.",,,,,,,,, +GARD:20539,Active,Orphanet,ORPHA:220452,Group of disorders,[Category],Isolated hereditary giant platelet disorder,"[Isolated hereditary macrothrombocytopenia, Isolated inherited giant platelet disorder, Isolated inherited macrothrombocytopenia]",,,,,,,,,, +GARD:20540,Active,Orphanet,ORPHA:220489,Group of disorders,[Category],Rare hereditary hemochromatosis,[Iron overload disease],"Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease.",,,,,,,,, +GARD:20541,Active,Orphanet,ORPHA:221078,Disorder,[Disease],Combined hyperactive dysfunction syndrome of the cranial nerves,,"Combined hyperactive dysfunction syndrome of the cranial nerves is a rare, acquired peripheral neuropathy characterized by symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion. The symptoms may be unilateral or bilateral, may occur synchronously or metachronously, and include trigeminal neuralgia, hemifacial spasm and glossopharyngeal neuralgia.",,,,,,,,, +GARD:20542,Active,Orphanet,ORPHA:221109,Group of disorders,[Clinical group],Cranial neuralgia,[Facial neuralgia],,,,,,,,,, +GARD:20543,Active,Orphanet,ORPHA:221114,Group of disorders,[Category],Acquired peripheral movement disorder,,,,,,,,,,, +GARD:20544,Active,Orphanet,ORPHA:221142,Disorder,[Disease],Confetti-like macular atrophy,,"A rare, acquired, dermis elastic tissue disorder with decreased elastic tissue characterized by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganized, hyalinized, coarse collagen bundles, and variable loss of elastic fibers in the dermis.",,,,,,,,, +GARD:20545,Active,Orphanet,ORPHA:222628,Group of disorders,[Category],Hereditary poikiloderma,,,,,,,,,,, +GARD:20546,Active,Orphanet,ORPHA:223713,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder,[OXPHOS disease],,,,,,,,,, +GARD:20547,Active,Orphanet,ORPHA:223727,Group of disorders,[Clinical group],Bone sarcoma,,,,,,,,,,, +GARD:20548,Active,Orphanet,ORPHA:223735,Group of disorders,[Category],Lymphoma,,,,,,,,,,, +GARD:20549,Active,Orphanet,ORPHA:225147,Disorder,[Disease],Sporadic infantile bilateral striatal necrosis,"[ABSN, Acute bilateral striatal necrosis, Sporadic IBSN, Sporadic infantile striatonigral degeneration, Sporadic infantile striatonigral necrosis]","Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.",,,,,,,,, +GARD:2055,Active,Orphanet,ORPHA:1818,Disorder,[Malformation syndrome],"Ectodermal dysplasia, trichoodontoonychial type",,"Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.",[129510],,,,,Ectodermal dysplasia trichoodontoonychial type,TRUE,FALSE,Active +GARD:20550,Active,Orphanet,ORPHA:225681,Group of disorders,[Category],Lysosomal disease with epilepsy,,,,,,,,,,, +GARD:20551,Active,Orphanet,ORPHA:225686,Group of disorders,[Category],Peroxisomal disease with epilepsy,,,,,,,,,,, +GARD:20552,Active,Orphanet,ORPHA:225689,Group of disorders,[Category],Amino acid or protein metabolism disease with epilepsy,,,,,,,,,,, +GARD:20553,Active,Orphanet,ORPHA:225692,Group of disorders,[Category],Metal transport or utilization disorder with epilepsy,,,,,,,,,,, +GARD:20554,Active,Orphanet,ORPHA:225696,Group of disorders,[Category],Energy metabolism disorder with epilepsy,,,,,,,,,,, +GARD:20555,Active,Orphanet,ORPHA:225700,Group of disorders,[Category],Mitochondrial disease with epilepsy,,,,,,,,,,, +GARD:20556,Active,Orphanet,ORPHA:225703,Group of disorders,[Category],Mitochondrial disease with peripheral neuropathy,,,,,,,,,,, +GARD:20557,Active,Orphanet,ORPHA:225707,Group of disorders,[Category],Metabolic neurotransmission anomaly with epilepsy,,,,,,,,,,, +GARD:20558,Active,Orphanet,ORPHA:225710,Group of disorders,[Category],Sterol metabolism disorder with epilepsy,,,,,,,,,,, +GARD:20559,Active,Orphanet,ORPHA:225713,Group of disorders,[Category],Other metabolic disease with epilepsy,,,,,,,,,,, +GARD:2056,Active,Orphanet,ORPHA:189,Disorder,[Disease],Hidrotic ectodermal dysplasia,[Clouston syndrome],"Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.",[129500],,,,,Clouston syndrome,TRUE,FALSE,Active +GARD:20560,Active,Orphanet,ORPHA:226292,Group of disorders,[Category],Permanent congenital hypothyroidism,,"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth.",,,,,,,,, +GARD:20561,Active,Orphanet,ORPHA:226295,Group of disorders,[Clinical group],Primary congenital hypothyroidism,,"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.",,,,,,,,, +GARD:20562,Active,Orphanet,ORPHA:226307,Disorder,[Disease],Hypothyroidism due to deficient transcription factors involved in pituitary development or function,,"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.",,,,,,,,, +GARD:20563,Active,Orphanet,ORPHA:226313,Disorder,[Disease],Congenital hypothyroidism due to maternal intake of antithyroid drugs,,"Congenital hypothyroidism due to maternal intake of antithyroid drugs is a rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.",,,,,,,,, +GARD:20564,Active,Orphanet,ORPHA:226316,Disorder,[Disease],Genetic transient congenital hypothyroidism,,"Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.",,,,,,,,, +GARD:20565,Active,Orphanet,ORPHA:227510,Subtype of disorder,[Clinical subtype],"Multiple system atrophy, cerebellar type","[MSA, cerebellar type, MSA-c, Sporadic OPCA type 1, Sporadic olivopontocerebellar atrophy type 1]","Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).",,,,,,,,, +GARD:20566,Active,Orphanet,ORPHA:227972,Disorder,[Disease],Toxic oil syndrome,,"Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.",,,,,,,,, +GARD:20567,Active,Orphanet,ORPHA:227990,Disorder,[Disease],Autoimmune polyendocrinopathy type 4,"[APS type 4, APS4, Autoimmune polyendocrine syndrome type 4, Autoimmune polyglandular syndrome type 4]","A rare autoimmune polyendocrinopathy characterized by autoimmune activity against an endocrine organ in combination with at least one more endocrine or non-endocrine organ. Typical autoimmune diseases occurring in this type include insulin-requiring diabetes, pernicious anemia, alopecia, vitiligo, or myasthenia gravis, but not Addison disease, thyroid disease, or hypoparathyroidism.",,,,,,,,, +GARD:20568,Active,Orphanet,ORPHA:228113,Disorder,[Particular clinical situation in a disease or syndrome],Anal fistula,,"A rare intestinal condition characterized by an abnormal communication between the lower rectum and the perianal skin, which usually develops after an acute perianal abscess. A fistulous traject may be established on either side of the anus (never in the midline) and mucous or fecal discharge can appear. The skin around the external orifice can be irritated. Males are more often affected than females.",,,,,,,,, +GARD:20569,Active,Orphanet,ORPHA:228116,Disorder,[Disease],Hughes-Stovin syndrome,,"Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD; see this term). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.",,,,,,,,, +GARD:2057,Active,Orphanet,ORPHA:248,Subtype of disorder,[Etiological subtype],Autosomal recessive hypohidrotic ectodermal dysplasia,"[AR-HED, Autosomal recessive anhidrotic ectodermal dysplasia]",,"[224900, 614941, 618535]",,,,,Hypohidrotic ectodermal dysplasia autosomal recessive,TRUE,FALSE,Active +GARD:20570,Active,Orphanet,ORPHA:228119,Disorder,[Disease],Fusariosis,[Fusarium infection],"Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.",,,,,,,,, +GARD:20571,Active,Orphanet,ORPHA:228145,Group of disorders,[Category],Multiple sclerosis variant,,,,,,,,,,, +GARD:20572,Active,Orphanet,ORPHA:228157,Disorder,[Disease],Marburg acute multiple sclerosis,"[Acute multiple sclerosis, Marburg type, Acute multiple sclerosis, Marburg variant]","Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.",,,,,,,,, +GARD:20573,Active,Orphanet,ORPHA:228184,Group of disorders,[Category],Heart-hand syndrome,[Atriodigital dysplasia],"Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms).",,,,,,,,, +GARD:20574,Active,Orphanet,ORPHA:228215,Group of disorders,[Category],Genetic dermis elastic tissue disorder,,,,,,,,,,, +GARD:20575,Active,Orphanet,ORPHA:228218,Group of disorders,[Category],Acquired dermis elastic tissue disorder,,,,,,,,,,, +GARD:20576,Active,Orphanet,ORPHA:228221,Group of disorders,[Category],Acquired dermis elastic tissue disorder with decreased elastic tissue,,,,,,,,,,, +GARD:20577,Active,Orphanet,ORPHA:228224,Group of disorders,[Category],Acquired dermis elastic tissue disorder with increased elastic tissue,,,,,,,,,,, +GARD:20578,Active,Orphanet,ORPHA:228227,Disorder,[Disease],Late-onset focal dermal elastosis,"[PXE-like late-onset focal dermal elastosis, Pseudoxanthoma-like late-onset focal dermal elastosis]","Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.",,,,,,,,, +GARD:20579,Active,Orphanet,ORPHA:228236,Disorder,[Disease],Linear focal elastosis,"[Elastotic striae, Linear focal dermal elastosis]","Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.",,,,,,,,, +GARD:20580,Active,Orphanet,ORPHA:228243,Disorder,[Disease],Elastofibroma dorsi,,"Elastofibroma dorsi is a rare, acquired, dermis elastic tissue disorder characterized by a benign, slowly progressive, often bilateral, non-encapsulated lesion, usually presenting as an ill-defined mass under the inferior angle of the scapula (but other locations have been reported), which adheres to the deep layers and presents no local signs of inflammation. It is commonly asymptomatic and discovered inadvertently, but symptoms may include pain and discomfort or stiffness when using the shoulder. The presence of a firm mass masked by the scapula during retropulsion of the shoulder and becoming prominent when the shoulder is displaced toward the front is a frequent sign. Neuromuscular involvement of the upper limb may occur in rare cases.",,,,,,,,, +GARD:20581,Active,Orphanet,ORPHA:228247,Disorder,[Disease],Acquired pseudoxanthoma elasticum,"[Acquired Gronblad-Strandberg-Touraine syndrome, Acquired PXE]","A rare acquired dermis elastic tissue disorder characterized by clinical and histopathologic evidence of pseudoxanthoma elasticum in the absence of a family history or specific mutation. Patients present with predominantly cutaneous manifestations consisting of yellowish papules which coalesce into large plaques and are most commonly localized on the neck, axillae, groin, and flexural surfaces. Skin biopsy shows accumulation of clumped, calcified elastic fibers in the mid-dermis. Reported underlying factors include previous liver transplantation, exposure to penicillamine, or concomitant beta-thalassemia.",,,,,,,,, +GARD:20582,Active,Orphanet,ORPHA:228254,Disorder,[Disease],Elastoma,"[Juvenile elastoma without osteopoikilosis, Nevus elasticus, Weidman juvenile elastoma]","A rare, genetic or acquired, dermis elastic tissue disorder characterized by asymptomatic, solitary or multiple, firm, skin-colored to yellowish papules or nodules of variable size that are disseminated or grouped in clusters and typically located on the trunk, buttocks, thighs or face, among others. Histologically, focal increase of thickened, tortuous elastic fibers in the reticular dermis, without signs of degeneration, is reported. Isolated cases, as well as cases associated with osteopoikilosis (Buschke-Ollendorf syndrome), may be observed.",,,,,,,,, +GARD:20583,Active,Orphanet,ORPHA:228264,Disorder,[Disease],Papular elastorrhexis,,"A rare, acquired, dermis elastic tissue disorder characterized by multiple, asymptomatic, firm, well-demarcated, nonfollicular, hypopigmented or skin-colored papules, with a diameter of less than 1 cm, distributed symmetrically over trunk and/or proximal limbs (rarely, head, neck, shoulders, armpits, thighs), with no extracutaneous manifestations. Histopathology typically reveals decreased and fragmented elastic fibers, thickened and/or homogenized collagen bundles and, in some, a mild, perivascular, lymphocytic infiltrate in the dermis.",,,,,,,,, +GARD:20584,Active,Orphanet,ORPHA:228272,Disorder,[Disease],Primary anetoderma,[Primary macular atrophy],Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.,,,,,,,,, +GARD:20585,Active,Orphanet,ORPHA:228277,Disorder,[Disease],Familial anetoderma,"[Hereditary anetoderma, Hereditary macular atrophy]",Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.,,,,,,,,, +GARD:20586,Active,Orphanet,ORPHA:228285,Disorder,[Disease],Acquired cutis laxa,[Cutis laxa acquisita],,,,,,,,,, +GARD:20587,Active,Orphanet,ORPHA:228290,Disorder,[Disease],White fibrous papulosis of the neck,,"White fibrous papulosis of the neck is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.",,,,,,,,, +GARD:20588,Active,Orphanet,ORPHA:228293,Disorder,[Disease],Pseudoxanthoma elasticum-like papillary dermal elastolysis,[PXE-like papillary dermal elastolysis],"Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.",,,,,,,,, +GARD:20589,Active,Orphanet,ORPHA:228299,Disorder,[Disease],Mid-dermal elastolysis,,"A rare, acquired, dermis elastic tissue disease characterized by asymptomatic, well-demarcated, symmetric patches and/or plaques of finely wrinkled skin arranged parallel to skin cleavage lines (type I), associated with perifollicular papular protrusions (type II) or with persistent reticular erythema (type III), occurring predominantly on the shoulders, trunk, back, and proximal extremities, associating, on histopathology, a selective loss of elastic tissue in the midreticular dermis. Erythema and/or urticaria may or may not precede wrinkly lesions.",,,,,,,,, +GARD:20590,Active,Orphanet,ORPHA:228312,Group of disorders,[Clinical group],"Autoimmune hemolytic anemia, cold type","[Cold AIHA, cAHA, cAIHA]","Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH; see these terms).",,,,,,,,, +GARD:20591,Active,Orphanet,ORPHA:228371,Subtype of disorder,[Clinical subtype],Foodborne botulism,[Intoxication botulism],"Foodborne botulism is the most common form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.",,,,,,,,, +GARD:20592,Active,Orphanet,ORPHA:228379,Disorder,[Disease],Virus-associated trichodysplasia spinulosa,"[Cyclosporine-induced folliculodystrophy, Pilomatrix dysplasia, TS, Trichodysplasia spinulosa, VATS]","Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.",,,,,,,,, +GARD:20593,Active,Orphanet,ORPHA:228396,Disorder,[Malformation syndrome],Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome,,"Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.",,,,,,,,, +GARD:20594,Active,Orphanet,ORPHA:228410,Disorder,[Malformation syndrome],Polyvalvular heart disease syndrome,[PHD syndrome],"A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay.",,,,,,,,, +GARD:20595,Active,Orphanet,ORPHA:228415,Disorder,[Malformation syndrome],5q35 microduplication syndrome,"[Dup(5)(q35), Trisomy 5q35]","The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.",,,,,,,,, +GARD:20596,Active,Orphanet,ORPHA:229720,Group of disorders,[Category],Syndromic agammaglobulinemia,,,,,,,,,,, +GARD:20597,Active,Orphanet,ORPHA:230800,Subtype of disorder,[Clinical subtype],Toxin-mediated infectious botulism,[Toxin-mediated infective botulism],"Infectious botulism is a form of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism; see these terms).",,,,,,,,, +GARD:20598,Active,Orphanet,ORPHA:231080,Disorder,[Particular clinical situation in a disease or syndrome],High-grade dysplasia in patients with Barrett esophagus,,,,,,,,,,, +GARD:20599,Active,Orphanet,ORPHA:231111,Disorder,[Disease],Drug-induced lupus erythematosus,[DILE],"A rare, systemic disease with skin involvement characterized by the onset of idiopathic lupus erythematosus-like signs and symptoms resulting from continuous drug intake (>1 month), which resolve when treatment is discontinued, in persons with no history of autoimmune disease. Manifestations are variable and may be systemic (e.g. arthralgia, myalgia, fever, fatigue, serositis, pleuritis, pericarditis), subacute cutaneous (incl. photosensitive, non-scarring, annular, polycyclic or papulosquamous lesions, malar erythema, vasculitis, bullous lesions, erythema multiforme-like changes), and/or chronic cutaneous (typically discoid lesions in sun-exposed areas). Procainamide and hydralazine are the drugs most frequently implicated.",,,,,,,,, +GARD:206,Active,Orphanet,ORPHA:655,Disorder,[Disease],Nephronophthisis,,"A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.","[606966, 614377, 615382, 615862, 617271, 602088, 613159, 613820, 613824, 611498, 256100, 604387]",,,,,Nephronophthisis,TRUE,FALSE,Active +GARD:2060,Active,Orphanet+OMIM,OMIM:225100,Subtype of disorder,[Malformation syndrome subtype],"Ectopia lentis 2, isolated, autosomal recessive",,"Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment ({6:Greene et al., 2010}).\n\nAn autosomal dominant form of isolated ectopia lentis (ECTOL1; {129600}) is caused by mutation in the FBN1 gene ({134797}).\n\nEctopia lentis is a hallmark of several well-known syndromes, e.g., Marfan syndrome ({154700}), Weill-Marchesani syndrome (see {277600}), and homocystinuria ({236200}).",[225100],[1885],[Isolated ectopia lentis],[12251],,"Ectopia lentis, isolated autosomal recessive",TRUE,FALSE,Active +GARD:20600,Active,Orphanet,ORPHA:231117,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,,,,,,,,,,, +GARD:20601,Active,Orphanet,ORPHA:231127,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to 11p15 microdeletion,,,,,,,,,,, +GARD:20602,Active,Orphanet,ORPHA:231130,Subtype of disorder,[Etiological subtype],Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion,,,,,,,,,,, +GARD:20603,Active,Orphanet,ORPHA:231137,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to 7p11.2p13 microduplication,"[Silver-Russell syndrome due to 7p11.2-p13 microduplication, Silver-Russell syndrome due to dup(7)(p11.2p13), Silver-Russell syndrome due to trisomy 7p11.2-p13, Silver-Russell syndrome due to trisomy 7p11.2p13]",,,,,,,,,, +GARD:20604,Active,Orphanet,ORPHA:231140,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to an imprinting defect of 11p15,,,,,,,,,,, +GARD:20605,Active,Orphanet,ORPHA:231144,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to 11p15 microduplication,,,,,,,,,,, +GARD:20606,Active,Orphanet,ORPHA:231147,Subtype of disorder,[Etiological subtype],Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11,[UPD(11)mat],,,,,,,,,, +GARD:20607,Active,Orphanet,ORPHA:231230,Group of disorders,[Category],Beta-thalassemia associated with another hemoglobin anomaly,[Beta-thalassemia associated with another Hb anomaly],"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)].",,,,,,,,, +GARD:20608,Active,Orphanet,ORPHA:231242,Disorder,[Disease],Hemoglobin C-beta-thalassemia syndrome,"[C-beta-thalassemia, HbC-beta-thalassemia syndrome]",Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.,,,,,,,,, +GARD:20609,Active,Orphanet,ORPHA:231249,Disorder,[Disease],Hemoglobin E-beta-thalassemia syndrome,"[E-beta-thalassemia, HbE-beta-thalassemia syndrome]",Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).,,,,,,,,, +GARD:20610,Active,Orphanet,ORPHA:231386,Group of disorders,[Category],Beta-thalassemia with other manifestations,,Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder.,,,,,,,,, +GARD:20611,Active,Orphanet,ORPHA:231413,Group of disorders,[Category],Variant of Guillain-Barré syndrome,[Variant of GBS],,,,,,,,,, +GARD:20612,Active,Orphanet,ORPHA:231416,Group of disorders,[Clinical group],Regional variant of Guillain-Barré syndrome,[Regional variant of GBS],,,,,,,,,, +GARD:20613,Active,Orphanet,ORPHA:231419,Group of disorders,[Clinical group],Functional variant of Guillain-Barré syndrome,[Functional variant of GBS],,,,,,,,,, +GARD:20614,Active,Orphanet,ORPHA:231426,Disorder,[Disease],Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome,"[PCB variant of GBS, PCB variant of Guillain-Barré syndrome, Pharyngeal-cervical-brachial weakness, Pharyngo-cervico-brachial variant of GBS, Pharyngo-cervico-brachial variant of Guillain-Barré syndrome]","Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome is a rare, acquired peripheral neuropathy disease characterized by rapidly progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia, in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated.",,,,,,,,, +GARD:20615,Active,Orphanet,ORPHA:231445,Disorder,[Disease],Paraparetic variant of Guillain-Barré syndrome,[Paraparetic variant of GBS],"Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.",,,,,,,,, +GARD:20616,Active,Orphanet,ORPHA:231450,Disorder,[Disease],Acute pure sensory neuropathy,"[Acute pure sensory GBS, Acute pure sensory Guillain-Barré syndrome]","A rare, acquired, demyelinating neuropathy disease characterized by acute, symmetric, monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia, and unsteady gait, as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense.",,,,,,,,, +GARD:20617,Active,Orphanet,ORPHA:231457,Disorder,[Disease],Acute pandysautonomia,"[Acute panautonomic GBS, Acute panautonomic Guillain-Barré syndrome, Acute panautonomic neuropathy]","A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.",,,,,,,,, +GARD:20618,Active,Orphanet,ORPHA:231466,Disorder,[Disease],Acute sensory ataxic neuropathy,"[ASAN, Acute sensory ataxic GBS, Acute sensory ataxic Guillain-Barré syndrome]","A rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.",,,,,,,,, +GARD:20619,Active,Orphanet,ORPHA:231573,Disorder,[Disease],Congenital erosive and vesicular dermatosis,"[CEVD, Congenital erosive and vesicular dermatosis with reticulated supple scarring]","Congenital erosive and vesicular dermatosis is a rare, idiopathic skin disease characterized by widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohydrosis. Nail anomalies, neurodevelopmental and ophtalmologic abnormalities, tongue atrophy and preterm birth, with or without history of choriomnionitis, are commonly associated.",,,,,,,,, +GARD:20620,Active,Orphanet,ORPHA:231580,Disorder,[Disease],Primary unilateral adrenal hyperplasia,[PUAH],"Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA; see this term) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.",,,,,,,,, +GARD:20621,Active,Orphanet,ORPHA:231625,Disorder,[Disease],Adrenocortical carcinoma with pure aldosterone hypersecretion,"[Pure APAC, Pure aldosterone-producing adrenocortical carcinoma, Pure aldosterone-secreting adrenocortical carcinoma]",A very rare surgically-correctable form of primary aldosteronism (PA) due to an aldosterone-secreting adrenal malignancy.,,,,,,,,, +GARD:20622,Active,Orphanet,ORPHA:231632,Disorder,[Disease],Ectopic aldosterone-producing tumor,[Extra-adrenal aldosterone-producing tumor],"Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.",,,,,,,,, +GARD:20623,Active,Orphanet,ORPHA:231637,Group of disorders,[Category],Rare surgically correctable form of primary aldosteronism,,"Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism; see this term) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia.",,,,,,,,, +GARD:20624,Active,Orphanet,ORPHA:231641,Group of disorders,[Category],Rare non surgically correctable form of primary aldosteronism,,,,,,,,,,, +GARD:20625,Active,Orphanet,ORPHA:231742,Disorder,[Malformation syndrome],Epibulbar lipodermoid-preauricular appendage-polythelia syndrome,,"Epibulbar lipodermoid – preauricular appendages – polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.",,,,,,,,, +GARD:20626,Active,Orphanet,ORPHA:232035,Group of disorders,[Category],Infectious embryofetopathy,,,,,,,,,,, +GARD:20627,Active,Orphanet,ORPHA:232288,Group of disorders,[Category],Syndrome with alpha-thalassemia as a major feature,,"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).",,,,,,,,, +GARD:20628,Active,Orphanet,ORPHA:233655,Group of disorders,[Category],Rare genetic vascular disease,,,,,,,,,,, +GARD:20629,Active,Orphanet,ORPHA:235832,Group of disorders,[Clinical group],Congenital vascular bone syndrome,,,,,,,,,,, +GARD:2063,Legacy,GARD,,,,,,,,,,,,Ectrodactyly cardiopathy dysmorphism,TRUE,FALSE,Active +GARD:20630,Active,Orphanet,ORPHA:235936,Group of disorders,[Clinical group],Familial hyperaldosteronism,[FH],"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.",,,,,,,,, +GARD:20631,Active,Orphanet,ORPHA:238269,Subtype of disorder,[Clinical subtype],AApoAII amyloidosis,"[Apolipoprotein A-II amyloidosis, Familial amyloid nephropathy due to apolipoprotein A-II variant, Familial renal amyloidosis due to apolipoprotein A-II variant, Hereditary amyloid nephropathy due to apolipoprotein A-II variant, Hereditary renal amyloidosis due to apolipoprotein A-II variant]","A rare hereditary amyloidosis with primary renal involvement characterized by variable onset of renal insufficiency with edema, hypertension, proteinuria, and azotemia, eventually leading to end-stage renal disease. Amyloid cardiomyopathy and histopathological evidence of amyloid deposition in other organs, such as the spleen, liver, adrenal glands, and pancreas, among others, have also been described.",,,,,,,,, +GARD:20632,Active,Orphanet,ORPHA:238305,Disorder,[Disease],Infundibulo-neurohypophysitis,,"Infundibulo-neurohypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism.",,,,,,,,, +GARD:20633,Active,Orphanet,ORPHA:238510,Group of disorders,[Clinical group],Lymphoproliferative syndrome,,,,,,,,,,, +GARD:20634,Active,Orphanet,ORPHA:238517,Group of disorders,[Clinical group],Hypotonia-cystinuria type 1 syndrome,,,,,,,,,,, +GARD:20635,Active,Orphanet,ORPHA:238536,Group of disorders,[Category],Congenital secondary polycythemia,[Congenital secondary erythrocytosis],,,,,,,,,, +GARD:20636,Active,Orphanet,ORPHA:238547,Group of disorders,[Category],Acquired secondary polycythemia,[Acquired secondary erythrocytosis],,,,,,,,,, +GARD:20637,Active,Orphanet,ORPHA:238621,Disorder,[Particular clinical situation in a disease or syndrome],Ileal pouch anal anastomosis related faecal incontinence,,"A rare intestinal disorder characterized by the inability to control the passage of rectal contents (feces, gas) through the anus following ileal pouch-anal anastomosis surgery. Fecal incontinence is usually more frequent during the night than during daytime. The condition generally worsens over time, with a significant negative impact on the quality of life of the patient.",,,,,,,,, +GARD:20638,Active,Orphanet,ORPHA:238637,Disorder,[Disease],Megacystis-megaureter syndrome,[Megaureter-megacystis syndrome],"Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.",,,,,,,,, +GARD:20639,Active,Orphanet,ORPHA:238642,Subtype of disorder,[Clinical subtype],"Primary megaureter, adult-onset form",,,,,,,,,,, +GARD:2064,Legacy,GARD,,,,,,,,,,,,Ectrodactyly cleft palate syndrome,TRUE,FALSE,Retired +GARD:20640,Active,Orphanet,ORPHA:238646,Subtype of disorder,[Clinical subtype],"Congenital primary megaureter, obstructed form",,,,,,,,,,, +GARD:20641,Active,Orphanet,ORPHA:238650,Subtype of disorder,[Clinical subtype],"Congenital primary megaureter, refluxing form",,,,,,,,,,, +GARD:20642,Active,Orphanet,ORPHA:238654,Subtype of disorder,[Clinical subtype],"Congenital primary megaureter, nonrefluxing and unobstructed form",,,,,,,,,,, +GARD:20643,Active,Orphanet,ORPHA:238666,Disorder,[Disease],Isolated congenital hypogonadotropic hypogonadism,"[Gonadotropic deficiency, Isolated congenital gonadotropin deficiency, Isolated gonadotropin-releasing hormone deficiency]","A rare, genetic pituitary hormone deficiency characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This disorder may be associated with a normal (normosmic) or impaired sense of smell (Kallmann syndrome).",,,,,,,,, +GARD:20644,Active,Orphanet,ORPHA:238688,Disorder,[Disease],Neonatal iodine exposure,,"Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.",,,,,,,,, +GARD:20645,Active,Orphanet,ORPHA:238696,Group of disorders,[Category],Transient congenital hypothyroidism due to maternal factor,,,,,,,,,,, +GARD:20646,Active,Orphanet,ORPHA:238699,Group of disorders,[Category],Transient congenital hypothyroidism due to neonatal factor,,,,,,,,,,, +GARD:20647,Active,Orphanet,ORPHA:240094,Subtype of disorder,[Clinical subtype],Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,"[PSP-PAGF, PSP-pure akinesia with gait freezing]","An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by progressive freezing of gait, speech and writing early in the disease course. Later, axial rigidity, and facial immobility can occur, and supranuclear downgaze paresis may emerge after a decade. Neuropathological characteristics include tau pathology and neuronal loss in specific brain areas, especially in the globus pallidus, subthalamic nucleus, and substantia nigra. The tau pathology is less widespread compared to the other PSP sub-types.",,,,,,,,, +GARD:20648,Active,Orphanet,ORPHA:240103,Subtype of disorder,[Clinical subtype],Progressive supranuclear palsy-corticobasal syndrome,"[PSP-CBS, PSP-corticobasal syndrome]","An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by a variable mixture of progressive asymmetric limb rigidity, apraxia, cortical sensory loss, alien limb, dystonia and bradykinesia that is unresponsive to levodopa. Postural instability and axial rigidity develop as the disease progresses. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the midfrontal and inferior parietal cortices.",,,,,,,,, +GARD:20649,Active,Orphanet,ORPHA:240112,Subtype of disorder,[Clinical subtype],Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,"[PSP-AOS, PSP-PNFA, Progressive supranuclear palsy-apraxia of speech syndrome]","An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by an initial presentation of an isolated speech and language disorder (apraxia of speech, agrammatism, and phonemic errors) years before developing other motor features of PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the temporal cortex and superior frontal gyrus.",,,,,,,,, +GARD:20650,Active,Orphanet,ORPHA:240371,Group of disorders,[Category],Syndromic obesity,,,,,,,,,,, +GARD:20651,Active,Orphanet,ORPHA:244275,Disorder,[Particular clinical situation in a disease or syndrome],De novo thrombotic microangiopathy after kidney transplantation,,,,,,,,,,, +GARD:20652,Active,Orphanet,ORPHA:244283,Disorder,[Malformation syndrome],Biliary atresia with splenic malformation syndrome,[BASM syndrome],"Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia (see this term) and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.",,,,,,,,, +GARD:20653,Active,Orphanet,ORPHA:247165,Disorder,[Disease],Infantile mercury poisoning,"[Erythroedema polyneuritis, Feer disease, Infantile acrodynia, Infantile mercury intoxication, Pink disease, Swift disease, Swift-Feer disease]","Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss and insomnia.",,,,,,,,, +GARD:20654,Active,Orphanet,ORPHA:247234,Disorder,[Disease],Sporadic adult-onset ataxia of unknown etiology,"[Idiopathic late-onset cerebellar ataxia, SAOA]","A rare non-hereditary degenerative ataxia disease characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.",,,,,,,,, +GARD:20655,Active,Orphanet,ORPHA:247239,Group of disorders,[Category],Non-hereditary degenerative ataxia,,,,,,,,,,, +GARD:20656,Active,Orphanet,ORPHA:247242,Group of disorders,[Category],Acquired ataxia,,,,,,,,,,, +GARD:20657,Active,Orphanet,ORPHA:247257,Disorder,[Disease],Inhalational anthrax,"[Inhalation anthrax disease, Pulmonary anthrax, Respiratory anthrax, Respiratory anthrax disease]","Inhalational anthrax is a rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.",,,,,,,,, +GARD:20658,Active,Orphanet,ORPHA:247378,Disorder,[Disease],Autosomal recessive secondary polycythemia not associated with VHL gene,"[Autosomal recessive secondary erythrocytosis not associated with VHL gene, Autosomal recessive secondary erythrocytosis, non-Chuvash type, Autosomal recessive secondary polycythemia, non-Chuvash type]","A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.",,,,,,,,, +GARD:20659,Active,Orphanet,ORPHA:247546,Subtype of disorder,[Clinical subtype],Acute neonatal citrullinemia type I,"[Acute neonatal citrullinemia type 1, Classic citrullinemia type 1, Classic citrullinemia type I]","A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.",,,,,,,,, +GARD:20660,Active,Orphanet,ORPHA:247573,Subtype of disorder,[Clinical subtype],Adult-onset citrullinemia type I,"[Adult-onset citrullinemia type 1, Late-onset citrullinemia type 1, Late-onset citrullinemia type I]","A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.",,,,,,,,, +GARD:20661,Active,Orphanet,ORPHA:247582,Group of disorders,[Category],Citrin deficiency,,"A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).",,,,,,,,, +GARD:20662,Active,Orphanet,ORPHA:247638,Subtype of disorder,[Clinical subtype],Prenatal benign hypophosphatasia,"[Prenatal benign Rathbun disease, Prenatal benign phosphoethanolaminuria]",A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.,,,,,,,,, +GARD:20663,Active,Orphanet,ORPHA:247718,Disorder,[Disease],Inflammatory myopathy with abundant macrophages,[IMAM],"A rare idiopathic inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.",,,,,,,,, +GARD:20664,Active,Orphanet,ORPHA:247724,Disorder,[Disease],Idiopathic eosinophilic myositis,[Idiopathic eosinophilia-associated myopathy],"A rare idiopathic inflammatory myopathy characterized by eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue, in the absence of an identifiable causative factor (e.g. parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalized muscle weakness and pain, difficulties to walk, motor clumsiness and/or mild bilateral aquilae retraction, as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia.",,,,,,,,, +GARD:20665,Active,Orphanet,ORPHA:247765,Group of disorders,[Category],X-linked cerebellar ataxia,,,,,,,,,,, +GARD:20666,Active,Orphanet,ORPHA:247815,Disorder,[Disease],Autosomal recessive ataxia due to PEX10 deficiency,[Mild peroxisomal disorder due to PEX10 deficiency],,,,,,,,,, +GARD:20667,Active,Orphanet,ORPHA:248095,Group of disorders,[Clinical group],Primary hypertrophic osteoarthropathy,"[Idiopathic hypertrophic osteoarthropathy, PHO]","Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms).",,,,,,,,, +GARD:20668,Active,Orphanet,ORPHA:248293,Group of disorders,[Category],Rare deficiency anemia,,,,,,,,,,, +GARD:20669,Active,Orphanet,ORPHA:248296,Group of disorders,[Category],Constitutional deficiency anemia,,,,,,,,,,, +GARD:20670,Active,Orphanet,ORPHA:248302,Group of disorders,[Category],Rare acquired deficiency anemia,,,,,,,,,,, +GARD:20671,Active,Orphanet,ORPHA:248308,Group of disorders,[Category],Rare hemorrhagic disorder,[Rare bleeding disorder],,,,,,,,,, +GARD:20672,Active,Orphanet,ORPHA:248315,Group of disorders,[Category],Rare hemorrhagic disorder due to a coagulation factors defect,"[Rare bleeding disorder due to a coagulation factors defect, Rare coagulopathy due to a coagulation factor defect]",,,,,,,,,, +GARD:20673,Active,Orphanet,ORPHA:248326,Group of disorders,[Category],Rare hemorrhagic disorder due to a platelet anomaly,"[Rare bleeding disorder due to a platelet anomaly, Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia, Rare coagulopathy due to a platelet anomaly, Rare coagulopathy due to a thrombopathy and/or thrombocytopenia, Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia]",,,,,,,,,, +GARD:20674,Active,Orphanet,ORPHA:248340,Disorder,[Disease],Isolated delta-storage pool disease,"[Isolated delta-SPD, Isolated dense-SPD, Isolated dense-storage pool disease]","Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.",,,,,,,,, +GARD:20675,Active,Orphanet,ORPHA:248347,Group of disorders,[Category],Rare hemorrhagic disorder due to an acquired platelet anomaly,"[Rare bleeding disorder due to an acquired platelet anomaly, Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia, Rare coagulopathy due to an acquired platelet anomaly, Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia, Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia]",,,,,,,,,, +GARD:20676,Active,Orphanet,ORPHA:248358,Group of disorders,[Category],Rare thrombotic disorder due to a coagulation factors defect,,,,,,,,,,, +GARD:20677,Active,Orphanet,ORPHA:248361,Group of disorders,[Category],Rare thrombotic disorder due to a constitutional coagulation factors defect,,,,,,,,,,, +GARD:20678,Active,Orphanet,ORPHA:248365,Group of disorders,[Category],Rare thrombotic disorder due to an acquired coagulation factors defect,,,,,,,,,,, +GARD:20679,Active,Orphanet,ORPHA:248368,Group of disorders,[Category],Rare thrombotic disorder due to a platelet anomaly,,,,,,,,,,, +GARD:2068,Active,Orphanet,ORPHA:1892,Disorder,[Malformation syndrome],Ectrodactyly-polydactyly syndrome,,"Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.",[225290],,,,,Ectrodactyly polydactyly,TRUE,FALSE,Active +GARD:20680,Active,Orphanet,ORPHA:248401,Group of disorders,[Category],Rare thrombotic disorder due to a constitutional platelet anomaly,,,,,,,,,,, +GARD:20681,Active,Orphanet,ORPHA:248404,Group of disorders,[Category],Rare thrombotic disorder due to an acquired platelet anomaly,,,,,,,,,,, +GARD:20682,Active,Orphanet,ORPHA:250165,Group of disorders,[Category],Genetic polycythemia,,,,,,,,,,, +GARD:20683,Active,Orphanet,ORPHA:250805,Group of disorders,[Category],Serpinopathy,,,,,,,,,,, +GARD:20684,Active,Orphanet,ORPHA:250808,Group of disorders,[Category],Serpinopathy with toxic serpin polymerization,,,,,,,,,,, +GARD:20685,Active,Orphanet,ORPHA:250811,Group of disorders,[Category],Serpinopathy with loss of serpin function,,,,,,,,,,, +GARD:20686,Active,Orphanet,ORPHA:250932,Disorder,[Disease],Autosomal dominant optic atrophy and peripheral neuropathy,,"A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.",,,,,,,,, +GARD:20687,Active,Orphanet,ORPHA:250972,Disorder,[Malformation syndrome],Polymicrogyria with optic nerve hypoplasia,,"Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.",,,,,,,,, +GARD:20688,Active,Orphanet,ORPHA:251004,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome 1,[UPD(1)pat],Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.,,,,,,,,, +GARD:20689,Active,Orphanet,ORPHA:251009,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome 1,[UPD(1)mat],Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.,,,,,,,,, +GARD:20690,Active,Orphanet,ORPHA:251014,Disorder,[Malformation syndrome],2q31.1 microdeletion syndrome,"[Del(2)(q31.1), Monosomy 2q31.1]","2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.",,,,,,,,, +GARD:20691,Active,Orphanet,ORPHA:251046,Disorder,[Malformation syndrome],6p22 microdeletion syndrome,"[Del(6)(p22), Monosomy 6p22]","6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.",,,,,,,,, +GARD:20692,Active,Orphanet,ORPHA:251061,Disorder,[Malformation syndrome],7q31 microdeletion syndrome,"[Del(7)(q31), Monosomy 7q31]","7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.",,,,,,,,, +GARD:20693,Active,Orphanet,ORPHA:251066,Disorder,[Malformation syndrome],8p11.2 deletion syndrome,"[Del(8)(p11.2), Monosomy 8p11.2]","8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.",,,,,,,,, +GARD:20694,Active,Orphanet,ORPHA:251304,Disorder,[Disease],Infantile onset panniculitis with uveitis and systemic granulomatosis,,"Infantile onset panniculitis with uveitis and systemic granulomatosis is a rare granulomatous autoinflammatroy disease characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.",,,,,,,,, +GARD:20695,Active,Orphanet,ORPHA:251307,Disorder,[Disease],Idiopathic recurrent pericarditis,[Idiopathic relapsing pericarditis],"Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.",,,,,,,,, +GARD:20696,Active,Orphanet,ORPHA:251312,Group of disorders,[Clinical group],Overlapping connective tissue disease,,,,,,,,,,, +GARD:20697,Active,Orphanet,ORPHA:251325,Disorder,[Disease],Drug-induced vasculitis,,"A rare secondary vasculitis characterized by an inflammation of blood vessels caused by various pharmaceutical agents, including certain antibiotics, anti-tumor necrosis factor-alpha agents, and psychoactive agents, among others. The skin is most commonly affected, but other tissues and organs, such as the subcutis, kidneys, or lungs may also be involved. Systemic disease develops only in a minority of patients treated with the causative drug over a prolonged period of time. Typical presenting signs and symptoms include skin rash, myalgia, arthralgia, fever, and malaise.",,,,,,,,, +GARD:20698,Active,Orphanet,ORPHA:251328,Disorder,[Disease],Unclassified vasculitis,,"A rare vasculitis characterized by an inflammatory disease of blood vessels which cannot be assigned to any of the known categories of vasculitis. Clinical features are highly variable, depending on the nature and extent of the inflammatory process, as well as the type of vessels and organ systems involved.",,,,,,,,, +GARD:20699,Active,Orphanet,ORPHA:251332,Disorder,[Disease],Unexplained long-lasting fever/inflammatory syndrome,[Persistent fever/inflammation of unknown origin],A rare systemic disease characterized by febrile illness (body temperature >38.3°C on several occasions) or inflammation (elevated serum C-reactive protein and erythrocyte sedimentation rate) lasting at least three weeks and for which no specific diagnosis is achieved despite extended diagnostics.,,,,,,,,, +GARD:207,Active,Orphanet,ORPHA:284,Disorder,[Disease],Alveolar echinococcosis,[Echinococcus multilocularis infection],A rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis and characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.,,,,,,Alveolar echinococcosis,TRUE,FALSE,Active +GARD:20700,Active,Orphanet,ORPHA:251375,Disorder,[Disease],Sickle cell-hemoglobin E disease syndrome,[HbSE disease],"A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).",,,,,,,,, +GARD:20701,Active,Orphanet,ORPHA:251529,Group of disorders,[Category],Toxic or drug-related embryofetopathy,,,,,,,,,,, +GARD:20702,Active,Orphanet,ORPHA:251535,Group of disorders,[Category],Maternal disease-related embryofetopathy,,,,,,,,,,, +GARD:20703,Active,Orphanet,ORPHA:251558,Group of disorders,[Category],Rare tumor of neuroepithelial tissue,,,,,,,,,,, +GARD:20704,Active,Orphanet,ORPHA:251561,Group of disorders,[Clinical group],High-grade astrocytoma,,,,,,,,,,, +GARD:20705,Active,Orphanet,ORPHA:251579,Subtype of disorder,[Histopathological subtype],Giant cell glioblastoma,,,,,,,,,,, +GARD:20706,Active,Orphanet,ORPHA:251592,Group of disorders,[Clinical group],Low-grade astrocytoma,,,,,,,,,,, +GARD:20707,Active,Orphanet,ORPHA:251598,Subtype of disorder,[Histopathological subtype],Protoplasmic astrocytoma,,,,,,,,,,, +GARD:20708,Active,Orphanet,ORPHA:251601,Subtype of disorder,[Histopathological subtype],Fibrillary astrocytoma,,,,,,,,,,, +GARD:20709,Active,Orphanet,ORPHA:251604,Subtype of disorder,[Histopathological subtype],Gemistocytic astrocytoma,,,,,,,,,,, +GARD:2071,Active,Orphanet,ORPHA:1997,Disorder,[Malformation syndrome],Blepharo-cheilo-odontic syndrome,"[BCD syndrome, Blepharocheilodontic syndrome, Clefting-ectropion-conical teeth syndrome, Ectropion inferior-cleft lip and/or palate syndrome, Elschnig syndrome, Lagophthalmia-cleft lip and palate syndrome]","A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.","[119580, 617681]",,,,,Blepharo-cheilo-odontic syndrome,TRUE,FALSE,Active +GARD:20710,Active,Orphanet,ORPHA:251615,Subtype of disorder,[Histopathological subtype],Pilomyxoid astrocytoma,,,,,,,,,,, +GARD:20711,Active,Orphanet,ORPHA:251623,Disorder,[Disease],Pituicytoma,,"A rare glial tumor originating from pituicytes, the specialized glial cells of the neurohypophysis, characterized by a sellar or suprasellar mass manifesting with clinical signs secondary to mass effect. Typical manifestations are visual disturbances, headaches, and hypopituitarism. Pituicytomas are low-grade tumors, and prognosis is good after total resection.",,,,,,,,, +GARD:20712,Active,Orphanet,ORPHA:251651,Group of disorders,[Clinical group],Oligoastrocytic tumor,[Mixed oligodendroglial and astrocytic tumor],,,,,,,,,, +GARD:20713,Active,Orphanet,ORPHA:251668,Group of disorders,[Clinical group],Glial tumor of neuroepithelial tissue with unknown origin,,,,,,,,,,, +GARD:20714,Active,Orphanet,ORPHA:251671,Disorder,[Disease],Angiocentric glioma,,"An extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.",,,,,,,,, +GARD:20715,Active,Orphanet,ORPHA:251674,Disorder,[Disease],Chordoid glioma,,"Chordoid glioma is an extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity.",,,,,,,,, +GARD:20716,Active,Orphanet,ORPHA:251852,Group of disorders,[Category],Embryonal tumor of neuroepithelial tissue,,,,,,,,,,, +GARD:20717,Active,Orphanet,ORPHA:251855,Subtype of disorder,[Histopathological subtype],Anaplastic/large cell medulloblastoma,,"A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia.",,,,,,,,, +GARD:20718,Active,Orphanet,ORPHA:251870,Group of disorders,[Clinical group],Central nervous system embryonal tumor,"[CNS PNET, Central nervous system primitive neuroectodermal tumor]",,,,,,,,,, +GARD:20719,Active,Orphanet,ORPHA:251877,Disorder,[Disease],Ganglioneuroblastoma,,"Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET; see this term), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome (see this term), depending on the location of the tumor.",,,,,,,,, +GARD:20720,Active,Orphanet,ORPHA:251880,Disorder,[Disease],Ependymoblastoma,,Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.,,,,,,,,, +GARD:20721,Active,Orphanet,ORPHA:251883,Disorder,[Disease],Medulloepithelioma of the central nervous system,,"Medulloepithelioma of the central nervous system is a rare, primitive neuroectodermal tumor characterized by papillary, tubular and trabecular arrangements of neoplastic neuroepithelium, mimicking the embryonic neural tube, most commonly found in the periventricular region within the cerebral hemispheres, but has also been reported in brainstem and cerebellum. It usually presents in childhood with headache, nausea, vomiting, facial nerve paresis, and/or cerebellar ataxia, and typically has a progressive course, highly malignant behavior and poor prognosis. Hearing and visual loss have also been observed.",,,,,,,,, +GARD:20722,Active,Orphanet,ORPHA:251896,Group of disorders,[Clinical group],Choroid plexus tumor,,,,,,,,,,, +GARD:20723,Active,Orphanet,ORPHA:251902,Disorder,[Disease],Atypical papilloma of choroid plexus,"[Atypical CPP, Atypical choroid plexus papilloma]","A very rare type of choroid plexus tumor that, contrary to papilloma of the choroid plexus, has an increased likelihood of progression to carcinoma and of recurrence. It displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern, and cell necrosis.",,,,,,,,, +GARD:20724,Active,Orphanet,ORPHA:251905,Group of disorders,[Clinical group],Pineal tumor of neuroepithelial tissue,,,,,,,,,,, +GARD:20725,Active,Orphanet,ORPHA:251915,Disorder,[Disease],Papillary tumor of the pineal region,[PTPR],"Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.",,,,,,,,, +GARD:20726,Active,Orphanet,ORPHA:251924,Group of disorders,[Clinical group],Neuronal tumor,,,,,,,,,,, +GARD:20727,Active,Orphanet,ORPHA:251927,Disorder,[Disease],Extraventricular neurocytoma,[EVN],"Extraventricular neurocytoma (EVN), a variant of central neurocytoma (see this term), is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.",,,,,,,,, +GARD:20728,Active,Orphanet,ORPHA:251934,Group of disorders,[Clinical group],Mixed neuronal-glial tumor,,,,,,,,,,, +GARD:20729,Active,Orphanet,ORPHA:251940,Disorder,[Disease],Desmoplastic infantile astrocytoma/ganglioglioma,[DIA/DIG],"Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.",,,,,,,,, +GARD:20730,Active,Orphanet,ORPHA:251962,Disorder,[Disease],Papillary glioneuronal tumor,"[PGNT, Pseudopapillary ganglioglioneurocytoma, Pseudopapillary neurocytoma with glial differentiation]","A rare mixed neuronal-glial tumor characterized by a supratentorial space-occupying lesion in periventricular location, often with prominent cystic change. The histological hallmark of this low-grade neoplasm is its pseudopapillary appearance with a single layer of cuboidal cells around hyalinized blood vessels, associated with sheets or focal collections of neuronal cells. Clinical presentation is variable and non-specific, most frequently with headache and seizures. Prognosis is favorable after complete resection.",,,,,,,,, +GARD:20731,Active,Orphanet,ORPHA:251992,Disorder,[Disease],Ganglioneuroma,,"Ganglioneuroma is a rare tumor of neuroepithelial tissue, a benign and well-differentiated tumor of neural crest origin, arising from the sympathetic nervous system and composed of ganglion cells and stromal Schwann cells. It can arise anywhere from the base of the skull to the pelvis, with the most frequent locations being the adrenal glands, retroperitoneum, posterior mediastinum and the pelvis, or, in rare cases, the central nervous system, heart, bones, intestine or other sites. It may be asymptomatic or present with various symptoms due to mass effect. Association with neurofibromatosis type I, multiple endocrine neoplasia type 2B and Turner syndrome was reported.",,,,,,,,, +GARD:20732,Active,Orphanet,ORPHA:251995,Group of disorders,[Category],Primary germ cell tumor of central nervous system,[Primary germ cell tumor of CNS],,,,,,,,,, +GARD:20733,Active,Orphanet,ORPHA:252006,Subtype of disorder,[Clinical subtype],Yolk sac tumor of central nervous system,"[Endodermal sinus tumor of CNS, Endodermal sinus tumor of central nervous system, Intracranial endodermal sinus tumor, Intracranial yolk sac tumor, Yolk sac tumor of CNS]",,,,,,,,,, +GARD:20734,Active,Orphanet,ORPHA:252015,Disorder,[Disease],Choriocarcinoma of the central nervous system,,"A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor.",,,,,,,,, +GARD:20735,Active,Orphanet,ORPHA:252018,Subtype of disorder,[Clinical subtype],Teratoma of the central nervous system,,,,,,,,,,, +GARD:20736,Active,Orphanet,ORPHA:252021,Subtype of disorder,[Clinical subtype],Mixed germ cell tumor of central nervous system,[Mixed germ cell tumor of CNS],,,,,,,,,, +GARD:20737,Active,Orphanet,ORPHA:252025,Group of disorders,[Category],Tumor of meninges,,,,,,,,,,, +GARD:20738,Active,Orphanet,ORPHA:252028,Group of disorders,[Category],Primary melanocytic tumor of central nervous system,"[Primary melanocytic lesion of CNS, Primary melanocytic lesion of central nervous system, Primary melanocytic tumor of CNS]",,,,,,,,,, +GARD:20739,Active,Orphanet,ORPHA:252031,Disorder,[Disease],Diffuse leptomeningeal melanocytosis,"[DLM, Leptomeningeal melanomatosis]","Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.",,,,,,,,, +GARD:2074,Active,Orphanet,ORPHA:1895,Disorder,[Malformation syndrome],Edinburgh malformation syndrome,[Typus Edinburgensis],"Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.",[129850],,,,,Edinburgh malformation syndrome,TRUE,FALSE,Active +GARD:20740,Active,Orphanet,ORPHA:252046,Disorder,[Disease],Meningeal melanocytoma,,"A rare nervous system tumor characterized by a benign pigmented space-occupying lesion derived from leptomeningeal melanocytes. Symptoms typically show insidious onset and are related to the mass effect on adjacent tissues. Depending on the location of the tumor, they include focal neurological deficits, increased intracranial pressure, seizures, and spinal cord compression, among others. Although the tumor may behave aggressively, prognosis is good after complete surgical resection.",,,,,,,,, +GARD:20741,Active,Orphanet,ORPHA:252128,Subtype of disorder,[Histopathological subtype],Malignant peripheral nerve sheath tumor with perineurial differentiation,[Malignant perineurioma],"Malignant peripheral nerve sheath tumor with perineurial differentiation is a rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumor necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumors have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported.",,,,,,,,, +GARD:20742,Active,Orphanet,ORPHA:252190,Group of disorders,[Category],Inherited nervous system cancer-predisposing syndrome,,,,,,,,,,, +GARD:20743,Active,Orphanet,ORPHA:252212,Subtype of disorder,[Histopathological subtype],Malignant triton tumor,"[MPNST with rhabdomyosarcomatous differentiation, MTT, Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation]",Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST; see this term) characterized histopathologically by focal rhabdomyoblastic differentiation.,,,,,,,,, +GARD:20744,Active,Orphanet,ORPHA:254370,Group of disorders,[Category],Rare cutaneous lichen planus,[Rare cutaneous LP],,,,,,,,,, +GARD:20745,Active,Orphanet,ORPHA:254373,Group of disorders,[Category],Rare mucosal lichen planus,[Rare mucosal LP],,,,,,,,,, +GARD:20746,Active,Orphanet,ORPHA:254504,Subtype of disorder,[Clinical subtype],Inhalational botulism,[Inhalation botulism],"Inhalational botulism is a man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).",,,,,,,,, +GARD:20747,Active,Orphanet,ORPHA:254509,Subtype of disorder,[Clinical subtype],Iatrogenic botulism,[Inadvertent botulism],"Iatrogenic botulism is the most recent man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.",,,,,,,,, +GARD:20748,Active,Orphanet,ORPHA:254685,Group of disorders,[Category],Gestational trophoblastic disease,,,,,,,,,,, +GARD:20749,Active,Orphanet,ORPHA:254693,Subtype of disorder,[Clinical subtype],Partial hydatidiform mole,"[Incomplete hydatidiform mole, Incomplete molar pregnancy, Partial molar pregnancy]","A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.",,,,,,,,, +GARD:20750,Active,Orphanet,ORPHA:254698,Disorder,[Disease],Epithelioid trophoblastic tumor,,A rare gestational trophoblastic neoplasmcharacterized histologically by invasion of the myometrium and/or cervix uteri by regular epithelioid cells of chorion laeve type intermediate trophoblasts which clusters in a hyaline stroma. The disease generally occurs several years after pregnancy and indicative signs are irregular metrorrhagia and moderate increases in chorionic gonadotropin levels.,,,,,,,,, +GARD:20751,Active,Orphanet,ORPHA:254704,Disorder,[Biological anomaly],Genetic hyperferritinemia without iron overload,[Benign hyperferritinemia],"Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.",,,,,,,,, +GARD:20752,Active,Orphanet,ORPHA:254746,Group of disorders,[Category],Pyruvate metabolism disorder,,,,,,,,,,, +GARD:20753,Active,Orphanet,ORPHA:254749,Group of disorders,[Category],Tricarboxylic acid cycle disorder,"[Citric acid cycle disorder, Krebs cycle disorder, TCA cycle disorder]",,,,,,,,,, +GARD:20754,Active,Orphanet,ORPHA:254758,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies,"[Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies, OXPHOS disease due to mitochondrial DNA anomalies, OXPHOS disease due to mtDNA anomalies]",,,,,,,,,, +GARD:20755,Active,Orphanet,ORPHA:254767,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA,"[Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA, OXPHOS disease due to a large-scale single deletion of mitochondrial DNA, OXPHOS disease due to a large-scale single deletion of mtDNA]",,,,,,,,,, +GARD:20756,Active,Orphanet,ORPHA:254776,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA,"[Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA, OXPHOS disease due to a point mutation of mitochondrial DNA, OXPHOS disease due to a point mutation of mtDNA]",,,,,,,,,, +GARD:20757,Active,Orphanet,ORPHA:254788,Group of disorders,[Clinical group],Mitochondrial DNA-related mitochondrial myopathy,"[Maternally-inherited mitochondrial myopathy, mtDNA-related mitochondrial myopathy]","A group of rare mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies characterized by progressive, most commonly proximal, myopathy with variable degrees of weakness, exercise-induced muscle pain, and fatigue. Progressive external ophthalmoplegia is often observed. Additional features include neurological signs and symptoms (such as seizures, stroke-like episodes, or developmental delay), cardiomyopathy, involvement of liver, kidneys, and gastrointestinal tract, and diabetes. Lactic acidosis is frequently present, while recurrent rhabdomyolysis and myoglobinuria are rare. Muscle biopsy may reveal the presence of ragged-red fibers and a mosaic pattern of cytochrome c oxidase-negative fibers.",,,,,,,,, +GARD:20758,Active,Orphanet,ORPHA:254807,Group of disorders,[Category],Multiple mitochondrial DNA deletion syndrome,[Multiple mtDNA deletion syndrome],,,,,,,,,, +GARD:20759,Active,Orphanet,ORPHA:254818,Group of disorders,[Clinical group],Ataxia neuropathy spectrum,,,,,,,,,,, +GARD:2076,Active,Orphanet,ORPHA:1896,Disorder,[Malformation syndrome],EEC syndrome,[Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome],"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).","[129900, 604292]",,,,,EEC syndrome,TRUE,FALSE,Active +GARD:20760,Active,Orphanet,ORPHA:254822,Group of disorders,[Category],Mitochondrial oxidative phosphorylation disorder with no known mechanism,[OXPHOS disease with no known mechanism],,,,,,,,,, +GARD:20761,Active,Orphanet,ORPHA:254827,Group of disorders,[Category],Mitochondrial membrane transport disorder,,,,,,,,,,, +GARD:20762,Active,Orphanet,ORPHA:254830,Group of disorders,[Category],Mitochondrial substrate carrier disorder,,,,,,,,,,, +GARD:20763,Active,Orphanet,ORPHA:254834,Group of disorders,[Category],Mitochondrial protein import disorder,,,,,,,,,,, +GARD:20764,Active,Orphanet,ORPHA:254837,Group of disorders,[Clinical group],Unspecified mitochondrial disorder,,,,,,,,,,, +GARD:20765,Active,Orphanet,ORPHA:254843,Group of disorders,[Clinical group],Exercise intolerance with lactic acidosis,,,,,,,,,,, +GARD:20766,Active,Orphanet,ORPHA:254846,Group of disorders,[Category],Isolated oxidative phosphorylation complex disorder,[Isolated respiratory chain complex disorder],,,,,,,,,, +GARD:20767,Active,Orphanet,ORPHA:254851,Disorder,[Disease],Mitochondrial DNA-related dystonia,"[Maternally-inherited mitochondrial dystonia, mtDNA-related dystonia]",Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.,,,,,,,,, +GARD:20768,Active,Orphanet,ORPHA:254854,Disorder,[Disease],Pure mitochondrial myopathy,,"Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.",,,,,,,,, +GARD:20769,Active,Orphanet,ORPHA:254871,Group of disorders,[Clinical group],"Mitochondrial DNA depletion syndrome, hepatocerebral form","[Deoxyguanosine kinase deficiency, mtDNA depletion syndrome, hepatocerebral form]",,,,,,,,,, +GARD:2077,Legacy,GARD,,,,,,,,,,,,Ectrodactyly and ectodermal dysplasia without cleft lip/palate,TRUE,FALSE,Retired +GARD:20770,Active,Orphanet,ORPHA:261102,Disorder,[Malformation syndrome],Distal 7q11.23 microduplication syndrome,"[Distal dup(7)(q11.23), Distal trisomy 7q11.23, Dup7q11.23D]","Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.",,,,,,,,, +GARD:20771,Active,Orphanet,ORPHA:261144,Subtype of disorder,[Clinical subtype],FOXG1 syndrome due to 14q12 microdeletion,"[Del(14)(q12), Monosomy 14q12]","14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.",,,,,,,,, +GARD:20772,Active,Orphanet,ORPHA:261204,Disorder,[Malformation syndrome],16p11.2p12.2 microduplication syndrome,"[Dup(16)(p11.2p12.2), Trisomy 16p11.2p12.2]","16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.",,,,,,,,, +GARD:20773,Active,Orphanet,ORPHA:261229,Disorder,[Malformation syndrome],14q11.2 microduplication syndrome,"[Dup(14)(q11.2), Trisomy 14q11.2]","14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.",,,,,,,,, +GARD:20774,Active,Orphanet,ORPHA:261236,Disorder,[Malformation syndrome],16p13.11 microdeletion syndrome,"[Del(16)(p13.11), Monosomy 16p13.11]","16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.",,,,,,,,, +GARD:20775,Active,Orphanet,ORPHA:261243,Disorder,[Malformation syndrome],16p13.11 microduplication syndrome,"[Dup(16)(p13.11), Trisomy 16p13.11]","16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.",,,,,,,,, +GARD:20776,Active,Orphanet,ORPHA:261257,Disorder,[Malformation syndrome],Distal 17p13.3 microdeletion syndrome,"[Distal del(17)(p13.3 ), Distal monosomy 17p13.3]","Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.",,,,,,,,, +GARD:20777,Active,Orphanet,ORPHA:261304,Disorder,[Malformation syndrome],Paternal 20q13.2q13.3 microdeletion syndrome,"[Paternal del(20)(q13.2q13.3), Paternal monosomy 20q13.2q13.3]","Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.",,,,,,,,, +GARD:20778,Active,Orphanet,ORPHA:261311,Disorder,[Malformation syndrome],20q13.33 microdeletion syndrome,"[Del(20)(q13.33), Monosomy 20q13.33]","A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.",,,,,,,,, +GARD:20779,Active,Orphanet,ORPHA:261323,Disorder,[Malformation syndrome],21q22.11q22.12 microdeletion syndrome,"[Del(21)(q22.11q22.12), Monosomy 21q22.11q22.12]","A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated.",,,,,,,,, +GARD:2078,Active,Orphanet,ORPHA:1897,Disorder,[Malformation syndrome],EEM syndrome,[Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome],"A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.",[225280],,,,,EEM syndrome,TRUE,FALSE,Active +GARD:20780,Active,Orphanet,ORPHA:261337,Disorder,[Malformation syndrome],Distal 22q11.2 microduplication syndrome,"[Distal dup(22)(q11.2), Distal trisomy 22q11.2]","A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from as asymptomatic parent.",,,,,,,,, +GARD:20781,Active,Orphanet,ORPHA:261344,Disorder,[Malformation syndrome],Trisomy 1q,[Duplication 1q],"Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.",,,,,,,,, +GARD:20782,Active,Orphanet,ORPHA:261501,Disorder,[Malformation syndrome],Atypical Norrie disease due to Xp11.3 microdeletion,"[Atypical Norrie disease due to del(X)(p11.3), Atypical Norrie disease due to nullisomy Xp11.3]","A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.",,,,,,,,, +GARD:20783,Active,Orphanet,ORPHA:261519,Disorder,[Malformation syndrome],Maternal uniparental disomy of chromosome X,[UPD(X)mat],A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.,,,,,,,,, +GARD:20784,Active,Orphanet,ORPHA:261524,Disorder,[Malformation syndrome],Paternal uniparental disomy of chromosome X,[UPD(X)pat],A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.,,,,,,,,, +GARD:20785,Active,Orphanet,ORPHA:261529,Disorder,[Malformation syndrome],Ring chromosome Y syndrome,"[Ring chromosome Y, r(Y)]","Ring chromosome Y syndrome is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.",,,,,,,,, +GARD:20786,Active,Orphanet,ORPHA:261584,Subtype of disorder,[Etiological subtype],Familial adenomatous polyposis due to 5q22.2 microdeletion,"[Colorectal adenomatous polyposis due to monosomy 5q22.2, FAP due to monosomy 5q22.2, Familial adenomatous polyposis due to del(5)(q22.2), Familial adenomatous polyposis due to monosomy 5q22.2, Familial polyposis coli due to monosomy 5q22.2]",,,,,,,,,, +GARD:20787,Active,Orphanet,ORPHA:261638,Subtype of disorder,[Etiological subtype],Okihiro syndrome due to 20q13 microdeletion,"[Duane-radial ray syndrome due to monosomy 20q13, Okihiro syndrome due to del(20)(q13), Okihiro syndrome due to monosomy 20q13]",,,,,,,,,, +GARD:20788,Active,Orphanet,ORPHA:261647,Subtype of disorder,[Etiological subtype],Okihiro syndrome due to a point mutation,[Duane-radial ray syndrome due to a point mutation],,,,,,,,,, +GARD:20789,Active,Orphanet,ORPHA:261766,Group of disorders,[Category],Partial deletion of chromosome 1,[Partial monosomy of chromosome 1],,,,,,,,,, +GARD:20790,Active,Orphanet,ORPHA:261771,Group of disorders,[Category],Partial deletion of chromosome 2,[Partial monosomy of chromosome 2],,,,,,,,,, +GARD:20791,Active,Orphanet,ORPHA:261776,Group of disorders,[Category],Partial deletion of chromosome 3,[Partial monosomy of chromosome 3],,,,,,,,,, +GARD:20792,Active,Orphanet,ORPHA:261781,Group of disorders,[Category],Partial deletion of chromosome 4,[Partial monosomy of chromosome 4],,,,,,,,,, +GARD:20793,Active,Orphanet,ORPHA:261786,Group of disorders,[Category],Partial deletion of chromosome 5,[Partial monosomy of chromosome 5],,,,,,,,,, +GARD:20794,Active,Orphanet,ORPHA:261791,Group of disorders,[Category],Partial deletion of chromosome 6,[Partial monosomy of chromosome 6],,,,,,,,,, +GARD:20795,Active,Orphanet,ORPHA:261796,Group of disorders,[Category],Partial deletion of chromosome 7,[Partial monosomy of chromosome 7],,,,,,,,,, +GARD:20796,Active,Orphanet,ORPHA:261801,Group of disorders,[Category],Partial deletion of chromosome 8,[Partial monosomy of chromosome 8],,,,,,,,,, +GARD:20797,Active,Orphanet,ORPHA:261806,Group of disorders,[Category],Partial deletion of chromosome 9,[Partial monosomy of chromosome 9],,,,,,,,,, +GARD:20798,Active,Orphanet,ORPHA:261811,Group of disorders,[Category],Partial deletion of chromosome 10,[Partial monosomy of chromosome 10],,,,,,,,,, +GARD:20799,Active,Orphanet,ORPHA:261816,Group of disorders,[Category],Partial deletion of chromosome 11,[Partial monosomy of chromosome 11],,,,,,,,,, +GARD:208,Legacy,GARD,,,,,,,,,,,,Giant mammary hamartoma,TRUE,FALSE,Active +GARD:20800,Active,Orphanet,ORPHA:261821,Group of disorders,[Category],Partial deletion of the long arm of chromosome 12,"[Partial deletion of chromosome 12q, Partial monosomy of chromosome 12q, Partial monosomy of the long arm of chromosome 12]",,,,,,,,,, +GARD:20801,Active,Orphanet,ORPHA:261826,Group of disorders,[Category],Partial deletion of chromosome 16,[Partial monosomy of chromosome 16],,,,,,,,,, +GARD:20802,Active,Orphanet,ORPHA:261831,Group of disorders,[Category],Partial deletion of chromosome 17,[Partial monosomy of chromosome 17],,,,,,,,,, +GARD:20803,Active,Orphanet,ORPHA:261836,Group of disorders,[Category],Partial deletion of chromosome 18,[Partial monosomy of chromosome 18],,,,,,,,,, +GARD:20804,Active,Orphanet,ORPHA:261841,Group of disorders,[Category],Partial deletion of chromosome 19,[Partial monosomy of chromosome 19],,,,,,,,,, +GARD:20805,Active,Orphanet,ORPHA:261846,Group of disorders,[Category],Partial deletion of chromosome 20,[Partial monosomy of chromosome 20],,,,,,,,,, +GARD:20806,Active,Orphanet,ORPHA:261857,Group of disorders,[Category],Partial deletion of the short arm of chromosome 1,"[Partial deletion of chromosome 1p, Partial monosomy of chromosome 1p, Partial monosomy of the short arm of chromosome 1]",,,,,,,,,, +GARD:20807,Active,Orphanet,ORPHA:261866,Group of disorders,[Category],Partial deletion of the short arm of chromosome 2,"[Partial deletion of chromosome 2p, Partial monosomy of chromosome 2p, Partial monosomy of the short arm of chromosome 2]",,,,,,,,,, +GARD:20808,Active,Orphanet,ORPHA:261884,Group of disorders,[Category],Partial deletion of the short arm of chromosome 4,"[Partial deletion of chromosome 4p, Partial monosomy of chromosome 4p, Partial monosomy of the short arm of chromosome 4]",,,,,,,,,, +GARD:20809,Active,Orphanet,ORPHA:261893,Group of disorders,[Category],Partial deletion of the short arm of chromosome 5,"[Partial deletion of chromosome 5p, Partial monosomy of chromosome 5p, Partial monosomy of the short arm of chromosome 5]",,,,,,,,,, +GARD:2081,Active,Orphanet,ORPHA:285,Disorder,[Disease],Hypermobile Ehlers-Danlos syndrome,"[EDS III, EDS-HT, Ehlers-Danlos syndrome hypermobility type, Ehlers-Danlos syndrome type 3, Hypermobile EDS, hEDS]","Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.",[130020],,,,,Hypermobile Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20810,Active,Orphanet,ORPHA:261902,Group of disorders,[Category],Partial deletion of the short arm of chromosome 6,"[Partial deletion of chromosome 6p, Partial monosomy of chromosome 6p, Partial monosomy of the short arm of chromosome 6]",,,,,,,,,, +GARD:20811,Active,Orphanet,ORPHA:261911,Group of disorders,[Category],Partial deletion of the short arm of chromosome 7,"[Partial deletion of chromosome 7p, Partial monosomy of chromosome 7p, Partial monosomy of the short arm of chromosome 7]",,,,,,,,,, +GARD:20812,Active,Orphanet,ORPHA:261920,Group of disorders,[Category],Partial deletion of the short arm of chromosome 8,"[Partial deletion of chromosome 8p, Partial monosomy of chromosome 8p, Partial monosomy of the short arm of chromosome 8]",,,,,,,,,, +GARD:20813,Active,Orphanet,ORPHA:261929,Group of disorders,[Category],Partial deletion of the short arm of chromosome 9,"[Partial deletion of chromosome 9p, Partial monosomy of chromosome 9p, Partial monosomy of the short arm of chromosome 9]",,,,,,,,,, +GARD:20814,Active,Orphanet,ORPHA:261938,Group of disorders,[Category],Partial deletion of the short arm of chromosome 10,"[Partial deletion of chromosome 10p, Partial monosomy of chromosome 10p, Partial monosomy of the short arm of chromosome 10]",,,,,,,,,, +GARD:20815,Active,Orphanet,ORPHA:261947,Group of disorders,[Category],Partial deletion of the short arm of chromosome 11,"[Partial deletion of chromosome 11p, Partial monosomy of chromosome 11p, Partial monosomy of the short arm of chromosome 11]",,,,,,,,,, +GARD:20816,Active,Orphanet,ORPHA:261956,Group of disorders,[Category],Partial deletion of the short arm of chromosome 16,"[Partial deletion of chromosome 16p, Partial monosomy of chromosome 16p, Partial monosomy of the short arm of chromosome 16]",,,,,,,,,, +GARD:20817,Active,Orphanet,ORPHA:261965,Group of disorders,[Category],Partial monosomy of the short arm of chromosome 17,"[Partial deletion of chromosome 17p, Partial deletion of the short arm of chromosome 17, Partial monosomy of chromosome 17p]",,,,,,,,,, +GARD:20818,Active,Orphanet,ORPHA:261974,Group of disorders,[Category],Partial deletion of the short arm of chromosome 18,"[Partial deletion of chromosome 18p, Partial monosomy of chromosome 18p, Partial monosomy of the short arm of chromosome 18]",,,,,,,,,, +GARD:20819,Active,Orphanet,ORPHA:261983,Group of disorders,[Category],Partial deletion of the short arm of chromosome 19,"[Partial deletion of chromosome 19p, Partial monosomy of chromosome 19p, Partial monosomy of the short arm of chromosome 19]",,,,,,,,,, +GARD:2082,Active,Orphanet,ORPHA:286,Disorder,[Disease],Vascular Ehlers-Danlos syndrome,"[Arterial-ecchymotic EDS, EDS IV, Ehlers-Danlos syndrome type 4, Sack-Barabas syndrome, Vascular EDS, vEDS]","A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.",[130050],,,,,Vascular Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20820,Active,Orphanet,ORPHA:261992,Group of disorders,[Category],Partial monosomy of the short arm of chromosome 20,"[Partial deletion of chromosome 20p, Partial deletion of the short arm of chromosome 20, Partial monosomy of chromosome 20p, Pure partial 20p deletion]",,,,,,,,,, +GARD:20821,Active,Orphanet,ORPHA:262001,Group of disorders,[Category],Partial deletion of the long arm of chromosome 1,"[Partial deletion of chromosome 1q, Partial monosomy of chromosome 1q, Partial monosomy of the long arm of chromosome 1]",,,,,,,,,, +GARD:20822,Active,Orphanet,ORPHA:262010,Group of disorders,[Category],Partial deletion of the long arm of chromosome 2,"[Partial deletion of chromosome 2q, Partial monosomy of chromosome 2q, Partial monosomy of the long arm of chromosome 2]",,,,,,,,,, +GARD:20823,Active,Orphanet,ORPHA:262019,Group of disorders,[Category],Partial deletion of the long arm of chromosome 3,"[Partial deletion of chromosome 3q, Partial monosomy of chromosome 3q, Partial monosomy of the long arm of chromosome 3]",,,,,,,,,, +GARD:20824,Active,Orphanet,ORPHA:262029,Group of disorders,[Category],Partial deletion of the long arm of chromosome 4,"[Partial deletion of chromosome 4q, Partial monosomy of chromosome 4q, Partial monosomy of the long arm of chromosome 4]",,,,,,,,,, +GARD:20825,Active,Orphanet,ORPHA:262038,Group of disorders,[Category],Partial deletion of the long arm of chromosome 5,"[Partial deletion of chromosome 5q, Partial monosomy of chromosome 5q, Partial monosomy of the long arm of chromosome 5]",,,,,,,,,, +GARD:20826,Active,Orphanet,ORPHA:262047,Group of disorders,[Category],Partial deletion of the long arm of chromosome 6,"[Partial deletion of chromosome 6q, Partial monosomy of chromosome 6q, Partial monosomy of the long arm of chromosome 6]",,,,,,,,,, +GARD:20827,Active,Orphanet,ORPHA:262056,Group of disorders,[Category],Partial deletion of the long arm of chromosome 7,"[Partial deletion of chromosome 7q, Partial monosomy of chromosome 7q, Partial monosomy of the long arm of chromosome 7]",,,,,,,,,, +GARD:20828,Active,Orphanet,ORPHA:262065,Group of disorders,[Category],Partial deletion of the long arm of chromosome 8,"[Partial deletion of chromosome 8q, Partial monosomy of chromosome 8q, Partial monosomy of the long arm of chromosome 8]",,,,,,,,,, +GARD:20829,Active,Orphanet,ORPHA:262074,Group of disorders,[Category],Partial monosomy of the long arm of chromosome 9,"[Partial deletion of chromosome 9q, Partial deletion of the long arm of chromosome 9, Partial monosomy of chromosome 9q]",,,,,,,,,, +GARD:2083,Active,Orphanet,ORPHA:536545,Disorder,[Disease],Kyphoscoliotic Ehlers-Danlos syndrome,"[EDS VI, Ehlers-Danlos syndrome type 6, Kyphoscoliotic EDS, kEDS]","A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.",,,,,,Kyphoscoliotic Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20830,Active,Orphanet,ORPHA:262083,Group of disorders,[Category],Partial monosomy of the long arm of chromosome 10,"[Partial deletion of chromosome 10q, Partial deletion of the long arm of chromosome 10, Partial monosomy of chromosome 10q]",,,,,,,,,, +GARD:20831,Active,Orphanet,ORPHA:262092,Group of disorders,[Category],Partial deletion of the long arm of chromosome 11,"[Partial deletion of chromosome 11q, Partial monosomy of chromosome 11q, Partial monosomy of the long arm of chromosome 11]",,,,,,,,,, +GARD:20832,Active,Orphanet,ORPHA:262101,Group of disorders,[Category],Partial deletion of the long arm of chromosome 13,"[Partial deletion of chromosome 13q, Partial monosomy of chromosome 13q, Partial monosomy of the long arm of chromosome 13]",,,,,,,,,, +GARD:20833,Active,Orphanet,ORPHA:262110,Group of disorders,[Category],Partial deletion of the long arm of chromosome 14,"[Partial deletion of chromosome 14q, Partial monosomy of chromosome 14q, Partial monosomy of the long arm of chromosome 14]",,,,,,,,,, +GARD:20834,Active,Orphanet,ORPHA:262119,Group of disorders,[Category],Partial deletion of the long arm of chromosome 15,"[Partial deletion of chromosome 15q, Partial monosomy of chromosome 15q, Partial monosomy of the long arm of chromosome 15]",,,,,,,,,, +GARD:20835,Active,Orphanet,ORPHA:262128,Group of disorders,[Category],Partial deletion of the long arm of chromosome 16,"[Partial deletion of chromosome 16q, Partial monosomy of chromosome 16q, Partial monosomy of the long arm of chromosome 16]",,,,,,,,,, +GARD:20836,Active,Orphanet,ORPHA:262137,Group of disorders,[Category],Partial deletion of the long arm of chromosome 17,"[Partial deletion of chromosome 17q, Partial monosomy of chromosome 17q, Partial monosomy of the long arm of chromosome 17]",,,,,,,,,, +GARD:20837,Active,Orphanet,ORPHA:262146,Group of disorders,[Category],Partial deletion of the long arm of chromosome 18,"[Partial deletion of chromosome 18q, Partial monosomy of chromosome 18q, Partial monosomy of the long arm of chromosome 18]",,,,,,,,,, +GARD:20838,Active,Orphanet,ORPHA:262155,Group of disorders,[Category],Partial deletion of the long arm of chromosome 19,"[Partial deletion of chromosome 19q, Partial monosomy of chromosome 19q, Partial monosomy of the long arm of chromosome 19]",,,,,,,,,, +GARD:20839,Active,Orphanet,ORPHA:262164,Group of disorders,[Category],Partial deletion of the long arm of chromosome 20,"[Partial deletion of chromosome 20q, Partial monosomy of chromosome 20q, Partial monosomy of the long arm of chromosome 20]",,,,,,,,,, +GARD:2084,Active,Orphanet,ORPHA:1899,Disorder,[Disease],Arthrochalasia Ehlers-Danlos syndrome,"[Arthrochalasia EDS, Arthrochalasis multiplex congenita, EDS VII, Ehlers-Danlos syndrome type 7, Ehlers-Danlos syndrome, arthrochalasia type, aEDS]","A form of Ehlers-Danlos syndrome (EDS) characterized by congenital bilateral hip dislocation, severe generalized joint hypermobility with recurrent joint dislocations and subluxations, hyperextensible and/or fragile skin.","[130060, 617821]",,,,,Arthrochalasia Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20840,Active,Orphanet,ORPHA:262173,Group of disorders,[Category],Partial deletion of the long arm of chromosome 21,"[Partial deletion of chromosome 21q, Partial monosomy of chromosome 21q, Partial monosomy of the long arm of chromosome 21]",,,,,,,,,, +GARD:20841,Active,Orphanet,ORPHA:262182,Group of disorders,[Category],Partial deletion of the long arm of chromosome 22,"[Partial deletion of chromosome 22q, Partial monosomy of chromosome 22q, Partial monosomy of the long arm of chromosome 22]",,,,,,,,,, +GARD:20842,Active,Orphanet,ORPHA:262191,Group of disorders,[Category],Partial duplication of chromosome 1,[Partial trisomy of chromosome 1],,,,,,,,,, +GARD:20843,Active,Orphanet,ORPHA:262196,Group of disorders,[Category],Partial duplication of chromosome 2,[Partial trisomy of chromosome 2],,,,,,,,,, +GARD:20844,Active,Orphanet,ORPHA:262201,Group of disorders,[Category],Partial duplication of chromosome 3,[Partial trisomy of chromosome 3],,,,,,,,,, +GARD:20845,Active,Orphanet,ORPHA:262206,Group of disorders,[Category],Partial duplication of chromosome 4,[Partial trisomy of chromosome 4],,,,,,,,,, +GARD:20846,Active,Orphanet,ORPHA:262211,Group of disorders,[Category],Partial trisomy/tetrasomy of chromosome 5,[Partial duplication/triplication of chromosome 5],,,,,,,,,, +GARD:20847,Active,Orphanet,ORPHA:262628,Group of disorders,[Category],Partial duplication of chromosome 6,[Partial trisomy of chromosome 6],,,,,,,,,, +GARD:20848,Active,Orphanet,ORPHA:262633,Group of disorders,[Category],Partial duplication of chromosome 7,[Partial trisomy of chromosome 7],,,,,,,,,, +GARD:20849,Active,Orphanet,ORPHA:262638,Group of disorders,[Category],Partial duplication of chromosome 8,[Partial trisomy of chromosome 8],,,,,,,,,, +GARD:20850,Active,Orphanet,ORPHA:262643,Group of disorders,[Category],Partial trisomy/tetrasomy of chromosome 9,[Partial duplication/triplication of chromosome 9],,,,,,,,,, +GARD:20851,Active,Orphanet,ORPHA:262648,Group of disorders,[Category],Partial duplication of chromosome 10,[Partial trisomy of chromosome 10],,,,,,,,,, +GARD:20852,Active,Orphanet,ORPHA:262653,Group of disorders,[Category],Partial duplication of chromosome 11,[Partial trisomy of chromosome 11],,,,,,,,,, +GARD:20853,Active,Orphanet,ORPHA:262658,Group of disorders,[Category],Partial trisomy/tetrasomy of the short arm of chromosome 12,"[Partial duplication/triplication of chromosome 12p, Partial duplication/triplication of the short arm of chromosome 12, Partial trisomy/tetrasomy of chromosome 12p]",,,,,,,,,, +GARD:20854,Active,Orphanet,ORPHA:262672,Group of disorders,[Category],Partial duplication of chromosome 16,[Partial trisomy of chromosome 16],,,,,,,,,, +GARD:20855,Active,Orphanet,ORPHA:262677,Group of disorders,[Category],Partial duplication of chromosome 17,[Partial trisomy of chromosome 17],,,,,,,,,, +GARD:20856,Active,Orphanet,ORPHA:262682,Group of disorders,[Category],Partial trisomy/tetrasomy of chromosome 18,[Partial duplication/triplication of chromosome 18],,,,,,,,,, +GARD:20857,Active,Orphanet,ORPHA:262687,Group of disorders,[Category],Partial duplication of chromosome 19,[Partial trisomy of chromosome 19],,,,,,,,,, +GARD:20858,Active,Orphanet,ORPHA:262692,Group of disorders,[Category],Partial trisomy of chromosome 20,[Partial duplication of chromosome 20],,,,,,,,,, +GARD:20859,Active,Orphanet,ORPHA:262698,Group of disorders,[Category],Partial duplication of the short arm of chromosome 2,"[Partial duplication of chromosome 2p, Partial trisomy of chromosome 2p]",,,,,,,,,, +GARD:20860,Active,Orphanet,ORPHA:262707,Group of disorders,[Category],Partial duplication of the short arm of chromosome 3,"[Partial duplication of chromosome 3p, Partial trisomy of chromosome 3p, Partial trisomy of the short arm of chromosome 3]",,,,,,,,,, +GARD:20861,Active,Orphanet,ORPHA:262716,Group of disorders,[Category],Partial duplication of the short arm of chromosome 4,"[Partial duplication of chromosome 4p, Partial trisomy of chromosome 4p, Partial trisomy of the short arm of chromosome 4]",,,,,,,,,, +GARD:20862,Active,Orphanet,ORPHA:262725,Group of disorders,[Category],Partial trisomy/tetrasomy of the short arm of chromosome 5,"[Partial duplication/triplication of chromosome 5p, Partial duplication/triplication of the short arm of chromosome 5, Partial trisomy/tetrasomy of chromosome 5p]",,,,,,,,,, +GARD:20863,Active,Orphanet,ORPHA:262740,Group of disorders,[Category],Partial duplication of the short arm of chromosome 6,"[Partial duplication of chromosome 6p, Partial trisomy of chromosome 6p, Partial trisomy of the short arm of chromosome 6]",,,,,,,,,, +GARD:20864,Active,Orphanet,ORPHA:262749,Group of disorders,[Category],Partial duplication of the short arm of chromosome 7,"[Partial duplication of chromosome 7p, Partial trisomy of chromosome 7p, Partial trisomy of the short arm of chromosome 7]",,,,,,,,,, +GARD:20865,Active,Orphanet,ORPHA:262758,Group of disorders,[Category],Partial duplication of the short arm of chromosome 8,"[Partial duplication of chromosome 8p, Partial trisomy of chromosome 8p, Partial trisomy of the short arm of chromosome 8]",,,,,,,,,, +GARD:20866,Active,Orphanet,ORPHA:262767,Group of disorders,[Category],Partial trisomy/tetrasomy of the short arm of chromosome 9,"[Partial duplication of chromosome 9p, Partial duplication of the short arm of chromosome 9, Partial trisomy of chromosome 9p]",,,,,,,,,, +GARD:20867,Active,Orphanet,ORPHA:262776,Group of disorders,[Category],Partial duplication of the short arm of chromosome 10,"[Partial duplication of chromosome 10p, Partial trisomy of chromosome 10p, Partial trisomy of the short arm of chromosome 10]",,,,,,,,,, +GARD:20868,Active,Orphanet,ORPHA:262785,Group of disorders,[Category],Partial duplication of the short arm of chromosome 11,"[Partial duplication of chromosome 11p, Partial trisomy of chromosome 11p, Partial trisomy of the short arm of chromosome 11]",,,,,,,,,, +GARD:20869,Active,Orphanet,ORPHA:262794,Group of disorders,[Category],Partial duplication of the short arm of chromosome 16,"[Partial duplication of chromosome 16p, Partial trisomy of chromosome 16p, Partial trisomy of the short arm of chromosome 16]",,,,,,,,,, +GARD:20870,Active,Orphanet,ORPHA:262803,Group of disorders,[Category],Partial duplication of the short arm of chromosome 17,"[Partial duplication of chromosome 17p, Partial trisomy of chromosome 17p, Partial trisomy of the short arm of chromosome 17]",,,,,,,,,, +GARD:20871,Active,Orphanet,ORPHA:262812,Group of disorders,[Category],Partial trisomy/tetrasomy of the short arm of chromosome 18,"[Partial duplication/triplication of chromosome 18p, Partial duplication/triplication of the short arm of chromosome 18, Partial trisomy/tetrasomy of chromosome 18p]",,,,,,,,,, +GARD:20872,Active,Orphanet,ORPHA:262833,Group of disorders,[Category],Partial duplication of the long arm of chromosome 1,"[Partial duplication of chromosome 1q, Partial trisomy of chromosome 1q, Partial trisomy of the long arm of chromosome 1]",,,,,,,,,, +GARD:20873,Active,Orphanet,ORPHA:262842,Group of disorders,[Category],Partial duplication of the long arm of chromosome 2,"[Partial duplication of chromosome 2q, Partial trisomy of chromosome 2q, Partial trisomy of the long arm of chromosome 2]",,,,,,,,,, +GARD:20874,Active,Orphanet,ORPHA:262851,Group of disorders,[Category],Partial duplication of the long arm of chromosome 3,"[Partial duplication of chromosome 3q, Partial trisomy of chromosome 3q]",,,,,,,,,, +GARD:20875,Active,Orphanet,ORPHA:262860,Group of disorders,[Category],Partial duplication of the long arm of chromosome 4,"[Partial duplication of chromosome 4q, Partial trisomy of chromosome 4q, Partial trisomy of the long arm of chromosome 4]",,,,,,,,,, +GARD:20876,Active,Orphanet,ORPHA:262869,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 5,"[Partial duplication of chromosome 5q, Partial duplication of the long arm of chromosome 5, Partial trisomy of chromosome 5q]",,,,,,,,,, +GARD:20877,Active,Orphanet,ORPHA:262878,Group of disorders,[Category],Partial duplication of the long arm of chromosome 6,"[Partial duplication of chromosome 6q, Partial trisomy of chromosome 6q, Partial trisomy of the long arm of chromosome 6]",,,,,,,,,, +GARD:20878,Active,Orphanet,ORPHA:262887,Group of disorders,[Category],Partial duplication of the long arm of chromosome 7,"[Partial duplication of chromosome 7q, Partial trisomy of chromosome 7q, Partial trisomy of the long arm of chromosome 7]",,,,,,,,,, +GARD:20879,Active,Orphanet,ORPHA:262896,Group of disorders,[Category],Partial duplication of the long arm of chromosome 8,"[Partial duplication of chromosome 8q, Partial trisomy of chromosome 8q, Partial trisomy of the long arm of chromosome 8]",,,,,,,,,, +GARD:2088,Active,Orphanet,ORPHA:287,Disorder,[Disease],Classical Ehlers-Danlos syndrome,"[Classical EDS, cEDS]","A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.","[130000, 130010]",,,,,Classical Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20880,Active,Orphanet,ORPHA:262905,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 9,"[Partial duplication of chromosome 9q, Partial duplication of the long arm of chromosome 9, Partial trisomy of chromosome 9q]",,,,,,,,,, +GARD:20881,Active,Orphanet,ORPHA:262914,Group of disorders,[Category],Partial duplication of the long arm of chromosome 10,"[Partial duplication of chromosome 10q, Partial trisomy of chromosome 10q, Partial trisomy of the long arm of chromosome 10]",,,,,,,,,, +GARD:20882,Active,Orphanet,ORPHA:262923,Group of disorders,[Category],Partial duplication of the long arm of chromosome 11,"[Partial duplication of chromosome 11q, Partial trisomy of chromosome 11q, Partial trisomy of the long arm of chromosome 11]",,,,,,,,,, +GARD:20883,Active,Orphanet,ORPHA:262932,Group of disorders,[Category],Partial duplication of the long arm of chromosome 13,"[Partial duplication of chromosome 13q, Partial trisomy of chromosome 13q, Partial trisomy of the long arm of chromosome 13]",,,,,,,,,, +GARD:20884,Active,Orphanet,ORPHA:262941,Group of disorders,[Category],Partial duplication of the long arm of chromosome 14,"[Partial duplication of chromosome 14q, Partial trisomy of chromosome 14q, Partial trisomy of the long arm of chromosome 14]",,,,,,,,,, +GARD:20885,Active,Orphanet,ORPHA:262950,Group of disorders,[Category],Partial duplication of the long arm of chromosome 15,"[Partial duplication of chromosome 15q, Partial trisomy of chromosome 15q, Partial trisomy of the long arm of chromosome 15]",,,,,,,,,, +GARD:20886,Active,Orphanet,ORPHA:262959,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 16,"[Partial duplication of chromosome 16q, Partial duplication of the long arm of chromosome 16, Partial trisomy of chromosome 16q]",,,,,,,,,, +GARD:20887,Active,Orphanet,ORPHA:262968,Group of disorders,[Category],Partial duplication of the long arm of chromosome 17,"[Partial duplication of chromosome 17q, Partial trisomy of chromosome 17q, Partial trisomy of the long arm of chromosome 17]",,,,,,,,,, +GARD:20888,Active,Orphanet,ORPHA:262977,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 18,"[Partial duplication of chromosome 18q, Partial duplication of the long arm of chromosome 18, Partial trisomy of chromosome 18q]",,,,,,,,,, +GARD:20889,Active,Orphanet,ORPHA:262986,Group of disorders,[Category],Partial duplication of the long arm of chromosome 19,"[Partial duplication of chromosome 19q, Partial trisomy of chromosome 19q, Partial trisomy of the long arm of chromosome 19]",,,,,,,,,, +GARD:2089,Active,Orphanet,ORPHA:1901,Disorder,[Disease],Dermatosparaxis Ehlers-Danlos syndrome,"[Dermatosparaxis EDS, Ehlers-Danlos syndrome type 7C, Human dermatosparaxis EDS VIIC, dEDS]","A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.",[225410],,,,,Dermatosparaxis Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:20890,Active,Orphanet,ORPHA:262995,Group of disorders,[Category],Partial trisomy of the long arm of chromosome 20,"[Partial duplication of chromosome 20q, Partial duplication of the long arm of chromosome 20, Partial trisomy of chromosome 20q]",,,,,,,,,, +GARD:20891,Active,Orphanet,ORPHA:263004,Group of disorders,[Category],Partial duplication of the long arm of chromosome 22,"[Partial duplication of chromosome 22q, Partial trisomy of chromosome 22q, Partial trisomy of the long arm of chromosome 22]",,,,,,,,,, +GARD:20892,Active,Orphanet,ORPHA:263310,Subtype of disorder,[Histopathological subtype],Thymoma type A,"[Primary thymic epithelial neoplasm type A, Primary thymic epithelial tumor type A]",,,,,,,,,, +GARD:20893,Active,Orphanet,ORPHA:263317,Subtype of disorder,[Histopathological subtype],Thymoma type B,"[Primary thymic epithelial neoplasm type B, Primary thymic epithelial tumor type B]",,,,,,,,,, +GARD:20894,Active,Orphanet,ORPHA:263324,Subtype of disorder,[Histopathological subtype],Thymoma type AB,"[Primary thymic epithelial neoplasm type AB, Primary thymic epithelial tumor type AB]",,,,,,,,,, +GARD:20895,Active,Orphanet,ORPHA:263331,Subtype of disorder,[Histopathological subtype],Well-differentiated thymic neuroendocrine carcinoma,,,,,,,,,,, +GARD:20896,Active,Orphanet,ORPHA:263335,Subtype of disorder,[Histopathological subtype],Moderately-differentiated thymic neuroendocrine carcinoma,,,,,,,,,,, +GARD:20897,Active,Orphanet,ORPHA:263339,Subtype of disorder,[Histopathological subtype],Poorly differentiated thymic neuroendocrine carcinoma,,,,,,,,,,, +GARD:20898,Active,Orphanet,ORPHA:263352,Disorder,[Particular clinical situation in a disease or syndrome],Postcardiotomy right ventricular failure,,,,,,,,,,, +GARD:20899,Active,Orphanet,ORPHA:263410,Disorder,[Disease],Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,,"Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome is a rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.",,,,,,,,, +GARD:20900,Active,Orphanet,ORPHA:263413,Disorder,[Disease],Angiosarcoma,,"A rare vascular tumor characterized by a malignant space-occupying lesion composed of cells variably recapitulating features of normal endothelium. It mostly develops as a cutaneous tumor and is much less frequently located in the deep soft tissue. Clinical presentation is an enlarging mass, sometimes with symptoms like coagulopathy, anemia, persistent hematoma, or bruisability. Some tumors are associated with pre-existing conditions, e. g. Klippel-Trenaunay syndrome, Maffucci syndrome, or following radiation, among others. Older age, retroperitoneal location, large size, and high mitotic activity are predictors for poor outcome.",,,,,,,,, +GARD:20901,Active,Orphanet,ORPHA:263425,Disorder,[Disease],Nevus of Ota,[Nevus fusculoceruleus ophthalmomaxillaris],"Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.",,,,,,,,, +GARD:20902,Active,Orphanet,ORPHA:263435,Disorder,[Disease],Congenital smooth muscle hamartoma,,"Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.",,,,,,,,, +GARD:20903,Active,Orphanet,ORPHA:263455,Disorder,[Disease],Hyperinsulinism due to HNF4A deficiency,[Hyperinsulinemic hypoglycemia due to HNF4A deficiency],"Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term).",,,,,,,,, +GARD:20904,Active,Orphanet,ORPHA:263558,Subtype of disorder,[Clinical subtype],Peeling skin syndrome type C,"[Generalized deciduous skin type C, Generalized peeling skin syndrome type C]",,,,,,,,,, +GARD:20905,Active,Orphanet,ORPHA:263665,Disorder,[Disease],NK-cell enteropathy,,"Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see these terms).",,,,,,,,, +GARD:20906,Active,Orphanet,ORPHA:263708,Group of disorders,[Category],Complex chromosomal rearrangement,,,,,,,,,,, +GARD:20907,Active,Orphanet,ORPHA:263714,Group of disorders,[Category],X chromosome number anomaly,,,,,,,,,,, +GARD:20908,Active,Orphanet,ORPHA:263717,Group of disorders,[Category],X chromosome number anomaly with female phenotype,,,,,,,,,,, +GARD:20909,Active,Orphanet,ORPHA:263720,Group of disorders,[Category],X chromosome number anomaly with male phenotype,,,,,,,,,,, +GARD:20910,Active,Orphanet,ORPHA:263723,Group of disorders,[Category],Polysomy of X chromosome,,,,,,,,,,, +GARD:20911,Active,Orphanet,ORPHA:263726,Group of disorders,[Category],Partial deletion of chromosome X,[Partial monosomy of chromosome X],,,,,,,,,, +GARD:20912,Active,Orphanet,ORPHA:263731,Group of disorders,[Category],Partial monosomy of the short arm of chromosome X,"[Partial deletion of chromosome Xp, Partial deletion of the short arm of chromosome X, Partial monosomy of chromosome Xp]",,,,,,,,,, +GARD:20913,Active,Orphanet,ORPHA:263746,Group of disorders,[Category],Y chromosome number anomaly,,,,,,,,,,, +GARD:20914,Active,Orphanet,ORPHA:263749,Group of disorders,[Category],X and Y chromosomal anomaly,,,,,,,,,,, +GARD:20915,Active,Orphanet,ORPHA:263756,Group of disorders,[Category],Partial deletion of the long arm of chromosome X,"[Partial deletion of chromosome Xq, Partial monosomy of chromosome Xq, Partial monosomy of the long arm of chromosome X]",,,,,,,,,, +GARD:20916,Active,Orphanet,ORPHA:263768,Group of disorders,[Category],Partial duplication of chromosome X,[Partial trisomy of chromosome X],,,,,,,,,, +GARD:20917,Active,Orphanet,ORPHA:263783,Group of disorders,[Category],Partial duplication of the long arm of chromosome X,"[Partial duplication of chromosome Xq, Partial trisomy of chromosome Xq, Partial trisomy of the long arm of chromosome X]",,,,,,,,,, +GARD:20918,Active,Orphanet,ORPHA:263793,Group of disorders,[Category],Uniparental disomy of chromosome X,[UPD(X)],,,,,,,,,, +GARD:20919,Active,Orphanet,ORPHA:264431,Group of disorders,[Category],Partial duplication of the short arm of chromosome 1,"[Partial duplication of chromosome 1p, Partial trisomy of chromosome 1p]",,,,,,,,,, +GARD:2092,Active,Orphanet,ORPHA:1902,Disorder,[Disease],Ehrlichiosis,,"A group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE).",,,,,,Ehrlichiosis,TRUE,FALSE,Active +GARD:20920,Active,Orphanet,ORPHA:264450,Disorder,[Malformation syndrome],Trisomy 8p,[Duplication 8p],"Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.",,,,,,,,, +GARD:20921,Active,Orphanet,ORPHA:264656,Group of disorders,[Category],Interstitial lung disease specific to childhood,[ILD specific to childhood],,,,,,,,,, +GARD:20922,Active,Orphanet,ORPHA:264670,Group of disorders,[Category],Primary interstitial lung disease specific to childhood due to alveolar structure disorder,[Primary ILD specific to childhood due to alveolar structure disorder],,,,,,,,,, +GARD:20923,Active,Orphanet,ORPHA:264683,Group of disorders,[Category],Primary interstitial lung disease specific to childhood due to alveolar vascular disorder,[Primary ILD specific to childhood due to alveolar vascular disorder],,,,,,,,,, +GARD:20924,Active,Orphanet,ORPHA:264691,Disorder,[Disease],Isolated pulmonary capillaritis,,"Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.",,,,,,,,, +GARD:20925,Active,Orphanet,ORPHA:264694,Group of disorders,[Category],Interstitial lung disease specific to infancy,[ILD specific to infancy],,,,,,,,,, +GARD:20926,Active,Orphanet,ORPHA:264699,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a systemic disease,[Secondary ILD specific to childhood associated with a systemic disease],,,,,,,,,, +GARD:20927,Active,Orphanet,ORPHA:264704,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a connective tissue disease,[Secondary ILD specific to childhood associated with a connective tissue disease],,,,,,,,,, +GARD:20928,Active,Orphanet,ORPHA:264709,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis,[Secondary ILD specific to childhood associated with a systemic vasculitis],,,,,,,,,, +GARD:20929,Active,Orphanet,ORPHA:264714,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a granulomatous disease,[Secondary ILD specific to childhood associated with a granulomatous disease],,,,,,,,,, +GARD:20930,Active,Orphanet,ORPHA:264719,Group of disorders,[Category],Secondary interstitial lung disease specific to childhood associated with a metabolic disease,[Secondary ILD specific to childhood associated with a metabolic disease],,,,,,,,,, +GARD:20931,Active,Orphanet,ORPHA:264735,Group of disorders,[Category],Interstitial lung disease specific to adulthood,[ILD specific to adulthood],,,,,,,,,, +GARD:20932,Active,Orphanet,ORPHA:264740,Group of disorders,[Category],Primary interstitial lung disease specific to adulthood,[Primary ILD specific to adulthood],,,,,,,,,, +GARD:20933,Active,Orphanet,ORPHA:264745,Group of disorders,[Category],Secondary interstitial lung disease specific to adulthood associated with a systemic disease,[Secondary ILD specific to adulthood associated with a systemic disease],,,,,,,,,, +GARD:20934,Active,Orphanet,ORPHA:264757,Group of disorders,[Category],Interstitial lung disease in childhood and adulthood,[ILD in childhood and adulthood],,,,,,,,,, +GARD:20935,Active,Orphanet,ORPHA:264762,Group of disorders,[Category],Primary interstitial lung disease in childhood and adulthood,[Primary ILD in childhood and adulthood],,,,,,,,,, +GARD:20936,Active,Orphanet,ORPHA:264930,Group of disorders,[Category],Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder,[Primary ILD in childhood and adulthood due to alveolar structure disorder],,,,,,,,,, +GARD:20937,Active,Orphanet,ORPHA:264935,Group of disorders,[Category],Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder,[Primary ILD in childhood and adulthood due to alveolar vascular disorder],,,,,,,,,, +GARD:20938,Active,Orphanet,ORPHA:264944,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood,[Secondary ILD in childhood and adulthood],,,,,,,,,, +GARD:20939,Active,Orphanet,ORPHA:264949,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease,[Secondary ILD in childhood and adulthood associated with a systemic disease],,,,,,,,,, +GARD:20940,Active,Orphanet,ORPHA:264968,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease,[Secondary ILD in childhood and adulthood associated with a metabolic disease],,,,,,,,,, +GARD:20941,Active,Orphanet,ORPHA:264973,Group of disorders,[Category],Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis,[Secondary ILD in childhood and adulthood associated with a systemic vasculitis],,,,,,,,,, +GARD:20942,Active,Orphanet,ORPHA:264978,Disorder,[Particular clinical situation in a disease or syndrome],Drug or radiation exposure-related interstitial lung disease,,,,,,,,,,, +GARD:20943,Active,Orphanet,ORPHA:264984,Group of disorders,[Category],Exposure-related interstitial lung disease,,,,,,,,,,, +GARD:20944,Active,Orphanet,ORPHA:264992,Group of disorders,[Category],Genetic interstitial lung disease,[Genetic ILD],,,,,,,,,, +GARD:20945,Active,Orphanet,ORPHA:268139,Disorder,[Disease],Intraocular medulloepithelioma,[Orbital medulloepithelioma],"Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.",,,,,,,,, +GARD:20946,Active,Orphanet,ORPHA:268249,Disorder,[Malformation syndrome],Mycophenolate mofetil embryopathy,[MMF embryopathy],"Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.",,,,,,,,, +GARD:20947,Active,Orphanet,ORPHA:268261,Subtype of disorder,[Etiological subtype],DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,"[21q22.13q22.2 microdeletion syndrome, Del(21)(q22.13q22.2), Monosomy 21q22.13q22.2]","A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.",,,,,,,,, +GARD:20948,Active,Orphanet,ORPHA:268316,Disorder,[Particular clinical situation in a disease or syndrome],Complication in hemodialysis,,,,,,,,,,, +GARD:20949,Active,Orphanet,ORPHA:268363,Subtype of disorder,[Clinical subtype],Open iniencephaly,,,,,,,,,,, +GARD:20950,Active,Orphanet,ORPHA:268366,Subtype of disorder,[Clinical subtype],Closed iniencephaly,,,,,,,,,,, +GARD:20951,Active,Orphanet,ORPHA:268369,Disorder,[Morphological anomaly],Spina bifida aperta,,"A rare neural tube closure defect characterized by a skin defect with exposed neural tissue in the area of the spinal column, with or without a protruding sac at the location of the defect. Signs and symptoms are variable depending on the content (only meninges or also spinal cord tissue), location, and severity of the lesion, but may include motor, sensory, and/or sphincter dysfunction, hydrocephalus, and/or skeletal anomalies (e. g. scoliosis, hemivertebrae), among others.",,,,,,,,, +GARD:20952,Active,Orphanet,ORPHA:268377,Subtype of disorder,[Clinical subtype],Total spina bifida aperta,,,,,,,,,,, +GARD:20953,Active,Orphanet,ORPHA:268384,Subtype of disorder,[Clinical subtype],Thoracolumbosacral spina bifida aperta,,,,,,,,,,, +GARD:20954,Active,Orphanet,ORPHA:268388,Subtype of disorder,[Clinical subtype],Lumbosacral spina bifida aperta,,,,,,,,,,, +GARD:20955,Active,Orphanet,ORPHA:268392,Subtype of disorder,[Clinical subtype],Cervical spina bifida aperta,,,,,,,,,,, +GARD:20956,Active,Orphanet,ORPHA:268397,Subtype of disorder,[Clinical subtype],Cervicothoracic spina bifida aperta,,,,,,,,,,, +GARD:20957,Active,Orphanet,ORPHA:268740,Subtype of disorder,[Clinical subtype],Upper thoracic spina bifida aperta,,,,,,,,,,, +GARD:20958,Active,Orphanet,ORPHA:268744,Group of disorders,[Clinical group],Spina bifida cystica,,,,,,,,,,, +GARD:20959,Active,Orphanet,ORPHA:268748,Subtype of disorder,[Clinical subtype],Total spina bifida cystica,,,,,,,,,,, +GARD:2096,Active,Orphanet,ORPHA:221054,Disorder,[Malformation syndrome],Acrocephalopolydactyly,"[Acrocephalopolydactylous dysplasia, Elejalde syndrome]","An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.",[200995],,,,,Acrocephalopolydactyly,TRUE,FALSE,Active +GARD:20960,Active,Orphanet,ORPHA:268752,Subtype of disorder,[Clinical subtype],Thoracolumbosacral spina bifida cystica,,,,,,,,,,, +GARD:20961,Active,Orphanet,ORPHA:268758,Subtype of disorder,[Clinical subtype],Lumbosacral spina bifida cystica,,,,,,,,,,, +GARD:20962,Active,Orphanet,ORPHA:268762,Subtype of disorder,[Clinical subtype],Cervical spina bifida cystica,,,,,,,,,,, +GARD:20963,Active,Orphanet,ORPHA:268766,Subtype of disorder,[Clinical subtype],Cervicothoracic spina bifida cystica,,,,,,,,,,, +GARD:20964,Active,Orphanet,ORPHA:268770,Subtype of disorder,[Clinical subtype],Upper thoracic spina bifida cystica,,,,,,,,,,, +GARD:20965,Active,Orphanet,ORPHA:268810,Disorder,[Morphological anomaly],Posterior meningocele,,"Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.",,,,,,,,, +GARD:20966,Active,Orphanet,ORPHA:268813,Disorder,[Morphological anomaly],Myelocystocele,,"A rare neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The malformation can occur anywhere along the spinal cord but appears to be more frequent in the posterior cervical and the lumbosacral region. It may be an isolated anomaly or be associated with other defects, including anorectal and genitourinary anomalies, or sacral agenesis.",,,,,,,,, +GARD:20967,Active,Orphanet,ORPHA:268817,Group of disorders,[Clinical group],Cephalocele,,,,,,,,,,, +GARD:20968,Active,Orphanet,ORPHA:268820,Disorder,[Morphological anomaly],Cranial meningocele,,"A rare central nervous system malformation characterized by herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leaking of cerebrospinal fluid.",,,,,,,,, +GARD:20969,Active,Orphanet,ORPHA:268823,Subtype of disorder,[Clinical subtype],Occipital encephalocele,,,,,,,,,,, +GARD:20970,Active,Orphanet,ORPHA:268826,Subtype of disorder,[Clinical subtype],Parietal encephalocele,,,,,,,,,,, +GARD:20971,Active,Orphanet,ORPHA:268829,Subtype of disorder,[Clinical subtype],Basal encephalocele,,,,,,,,,,, +GARD:20972,Active,Orphanet,ORPHA:268832,Group of disorders,[Clinical group],Lipoma associated with neurospinal dysraphism,,,,,,,,,,, +GARD:20973,Active,Orphanet,ORPHA:268838,Disorder,[Morphological anomaly],Leptomyelolipoma,,"Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.",,,,,,,,, +GARD:20974,Active,Orphanet,ORPHA:268843,Group of disorders,[Category],"Malformation of the neurenteric canal, spinal cord and column",,,,,,,,,,, +GARD:20975,Active,Orphanet,ORPHA:268865,Disorder,[Morphological anomaly],Neurenteric cyst,,"A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed.",,,,,,,,, +GARD:20976,Active,Orphanet,ORPHA:268868,Disorder,[Morphological anomaly],Isolated amyelia,,"A rare central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and bulky, thickened, and low-lying caudally. Clinical presentation includes varying degrees of motor weakness (associated with deformities of the lower limbs) and neurogenic bladder dysfunction.",,,,,,,,, +GARD:20977,Active,Orphanet,ORPHA:268920,Subtype of disorder,[Clinical subtype],Isolated megalencephaly,[Isolated macrencephaly],,,,,,,,,, +GARD:20978,Active,Orphanet,ORPHA:268926,Group of disorders,[Category],Midline cerebral malformation,[Midline brain malformation],,,,,,,,,, +GARD:20979,Active,Orphanet,ORPHA:268936,Disorder,[Morphological anomaly],Isolated arhinencephaly,,Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.,,,,,,,,, +GARD:2098,Active,Orphanet,ORPHA:2516,Disorder,[Malformation syndrome],Microcephaly-cardiac defect-lung malsegmentation syndrome,[Ellis-Yale-Winter syndrome],"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.",[601355],,,,,Ellis Yale Winter syndrome,TRUE,FALSE,Active +GARD:20980,Active,Orphanet,ORPHA:268943,Disorder,[Morphological anomaly],Unilateral polymicrogyria,,Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria (see these terms).,,,,,,,,, +GARD:20981,Active,Orphanet,ORPHA:268947,Subtype of disorder,[Clinical subtype],Unilateral focal polymicrogyria,,"Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.",,,,,,,,, +GARD:20982,Active,Orphanet,ORPHA:268950,Group of disorders,[Clinical group],Cerebral cortical dysplasia,[Brain cortical dysplasia],,,,,,,,,, +GARD:20983,Active,Orphanet,ORPHA:268961,Subtype of disorder,[Clinical subtype],Isolated focal cortical dysplasia type I,[FCD type I],,,,,,,,,, +GARD:20984,Active,Orphanet,ORPHA:268973,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type Ia,[FCD type Ia],,,,,,,,,, +GARD:20985,Active,Orphanet,ORPHA:268980,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type Ib,[FCD type Ib],,,,,,,,,, +GARD:20986,Active,Orphanet,ORPHA:268987,Subtype of disorder,[Histopathological subtype],Isolated focal cortical dysplasia type Ic,[FCD type Ic],,,,,,,,,, +GARD:20987,Active,Orphanet,ORPHA:269190,Group of disorders,[Clinical group],Encephaloclastic disorder,,,,,,,,,,, +GARD:20988,Active,Orphanet,ORPHA:269194,Group of disorders,[Category],Central nervous system cystic malformation,,,,,,,,,,, +GARD:20989,Active,Orphanet,ORPHA:269197,Disorder,[Morphological anomaly],Glioependymal/ependymal cyst,,"Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).",,,,,,,,, +GARD:2099,Legacy,GARD,,,,,,,,,,,,Emerinopathy,TRUE,FALSE,Active +GARD:20990,Active,Orphanet,ORPHA:269203,Disorder,[Morphological anomaly],Isolated cerebellar vermis agenesis,,"A rare, congenital, cerebellar malformation disorder characterized by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnea, and delayed gait acquisition, as well as delayed speech and language development.",,,,,,,,, +GARD:20991,Active,Orphanet,ORPHA:269206,Subtype of disorder,[Clinical subtype],Isolated total cerebellar vermis agenesis,,,,,,,,,,, +GARD:20992,Active,Orphanet,ORPHA:269209,Subtype of disorder,[Clinical subtype],Isolated partial cerebellar vermis agenesis,,,,,,,,,,, +GARD:20993,Active,Orphanet,ORPHA:269212,Subtype of disorder,[Clinical subtype],Isolated Dandy-Walker malformation with hydrocephalus,,,,,,,,,,, +GARD:20994,Active,Orphanet,ORPHA:269215,Subtype of disorder,[Clinical subtype],Isolated Dandy-Walker malformation without hydrocephalus,,,,,,,,,,, +GARD:20995,Active,Orphanet,ORPHA:269218,Disorder,[Morphological anomaly],Isolated unilateral hemispheric cerebellar hypoplasia,,"Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.",,,,,,,,, +GARD:20996,Active,Orphanet,ORPHA:269221,Disorder,[Morphological anomaly],Isolated bilateral hemispheric cerebellar hypoplasia,,"Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.",,,,,,,,, +GARD:20997,Active,Orphanet,ORPHA:269224,Group of disorders,[Category],Global cerebellar malformation,[Diffuse cerebellar malformation],,,,,,,,,, +GARD:20998,Active,Orphanet,ORPHA:269505,Subtype of disorder,[Clinical subtype],Congenital communicating hydrocephalus,[Congenital non-obstructive hydrocephalus],,,,,,,,,, +GARD:20999,Active,Orphanet,ORPHA:269523,Group of disorders,[Category],Syndrome with a cerebellar malformation as a major feature,,,,,,,,,,, +GARD:210,Legacy,GARD,,,,,,,,,,,,Ruzicka Goerz Anton syndrome,TRUE,FALSE,Active +GARD:21000,Active,Orphanet,ORPHA:269528,Group of disorders,[Category],Syndrome with microcephaly as a major feature,,,,,,,,,,, +GARD:21001,Active,Orphanet,ORPHA:269531,Group of disorders,[Category],Other syndrome with a central nervous system malformation as a major feature,,,,,,,,,,, +GARD:21002,Active,Orphanet,ORPHA:269546,Group of disorders,[Category],Syndrome with a Dandy-Walker malformation as a major feature,,,,,,,,,,, +GARD:21003,Active,Orphanet,ORPHA:269550,Group of disorders,[Category],Genetic non-syndromic central nervous system malformation,,,,,,,,,,, +GARD:21004,Active,Orphanet,ORPHA:269553,Group of disorders,[Category],Genetic cerebral malformation,[Genetic brain malformation],,,,,,,,,, +GARD:21005,Active,Orphanet,ORPHA:269557,Group of disorders,[Category],Genetic posterior fossa malformation,,,,,,,,,,, +GARD:21006,Active,Orphanet,ORPHA:269560,Group of disorders,[Category],Genetic cerebellar malformation,,,,,,,,,,, +GARD:21007,Active,Orphanet,ORPHA:269564,Group of disorders,[Category],Genetic syndrome with a central nervous system malformation as a major feature,[Genetic syndrome with a CNS malformation as major feature],,,,,,,,,, +GARD:21008,Active,Orphanet,ORPHA:269567,Group of disorders,[Category],Genetic syndrome with a cerebellar malformation as a major feature,,,,,,,,,,, +GARD:21009,Active,Orphanet,ORPHA:269570,Group of disorders,[Category],Genetic syndrome with a Dandy-Walker malformation as a major feature,,,,,,,,,,, +GARD:2101,Legacy,GARD,,,,,,,,,,,,"Emery-Dreifuss muscular dystrophy, dominant type",TRUE,FALSE,Retired +GARD:21010,Active,Orphanet,ORPHA:269573,Group of disorders,[Category],Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature,,,,,,,,,,, +GARD:21011,Active,Orphanet,ORPHA:271832,Group of disorders,[Category],Genetic soft tissue tumor,[Genetic mesenchymal tumor],,,,,,,,,, +GARD:21012,Active,Orphanet,ORPHA:271835,Group of disorders,[Category],Genetic digestive tract tumor,,,,,,,,,,, +GARD:21013,Active,Orphanet,ORPHA:271841,Group of disorders,[Category],Genetic cardiac tumor,,,,,,,,,,, +GARD:21014,Active,Orphanet,ORPHA:271844,Group of disorders,[Category],Genetic urogenital tumor,,,,,,,,,,, +GARD:21015,Active,Orphanet,ORPHA:271847,Group of disorders,[Category],Genetic neuroendocrine tumor,,,,,,,,,,, +GARD:21016,Active,Orphanet,ORPHA:271853,Group of disorders,[Category],Genetic cardiac anomaly,,,,,,,,,,, +GARD:21017,Active,Orphanet,ORPHA:271861,Group of disorders,[Clinical group],Hereditary ATTR amyloidosis,"[Familial TTR-related amyloidosis, Familial transthyretin-related amyloidosis]",,,,,,,,,, +GARD:21018,Active,Orphanet,ORPHA:271870,Group of disorders,[Category],Rare genetic systemic or rheumatologic disease,,,,,,,,,,, +GARD:21019,Active,Orphanet,ORPHA:275729,Group of disorders,[Category],Rare hemorrhagic disorder due to a constitutional thrombocytopenia,"[Rare bleeding disorder due to a constitutional thrombocytopenia, Rare bleeding disorder due to a quantitative platelet defect, Rare coagulopathy due to a constitutional thrombocytopenia, Rare coagulopathy due to a quantitative platelet defect, Rare hemorrhagic disorder due to a quantitative platelet defect]",,,,,,,,,, +GARD:2102,Active,Orphanet,ORPHA:98863,Subtype of disorder,[Etiological subtype],X-linked Emery-Dreifuss muscular dystrophy,,,"[310300, 300696]",,,,,"Emery-Dreifuss muscular dystrophy, X-linked",TRUE,FALSE,Retired +GARD:21020,Active,Orphanet,ORPHA:275736,Group of disorders,[Category],Rare hemorrhagic disorder due to a qualitative platelet defect,"[Rare bleeding disorder due to a constitutional thrombopathy, Rare bleeding disorder due to a qualitative platelet defect, Rare coagulopathy due to a constitutional thrombopathy, Rare coagulopathy due to a qualitative platelet defect, Rare hemorrhagic disorder due to a constitutional thrombopathy]",,,,,,,,,, +GARD:21021,Active,Orphanet,ORPHA:275742,Group of disorders,[Category],Genetic infertility,,,,,,,,,,, +GARD:21022,Active,Orphanet,ORPHA:275745,Group of disorders,[Category],Alpha-thalassemia and related disorders,,,,,,,,,,, +GARD:21023,Active,Orphanet,ORPHA:275749,Group of disorders,[Category],Beta-thalassemia and related diseases,,,,,,,,,,, +GARD:21024,Active,Orphanet,ORPHA:275752,Group of disorders,[Category],Sickle cell disease and related diseases,,,,,,,,,,, +GARD:21025,Active,Orphanet,ORPHA:275766,Subtype of disorder,[Etiological subtype],Idiopathic pulmonary arterial hypertension,"[IPAH, Primary pulmonary arterial hypertension]","Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.",,,,,,,,, +GARD:21026,Active,Orphanet,ORPHA:275786,Group of disorders,[Clinical group],Drug- or toxin-induced pulmonary arterial hypertension,[Drug- or toxin-induced PAH],"Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH, see this term) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.",,,,,,,,, +GARD:21027,Active,Orphanet,ORPHA:275791,Group of disorders,[Category],Pulmonary arterial hypertension associated with another disease,"[PAH associated with another disease, Secondary PAH]","Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH (see this term); connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia (see these terms),which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.",,,,,,,,, +GARD:21028,Active,Orphanet,ORPHA:275798,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with connective tissue disease,[PAH associated with connective tissue disease],A form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.,,,,,,,,, +GARD:21029,Active,Orphanet,ORPHA:275803,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with congenital heart disease,[PAH associated with congenital heart disease],"Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.",,,,,,,,, +GARD:21030,Active,Orphanet,ORPHA:275808,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with HIV infection,[PAH associated with HIV infaction],A form of pulmonary arterial hypertension characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection.,,,,,,,,, +GARD:21031,Active,Orphanet,ORPHA:275813,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with portal hypertension,"[PAH associated with portal hypertension, POPH, Portopulmonary hypertension]","Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension.",,,,,,,,, +GARD:21032,Active,Orphanet,ORPHA:275823,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with schistosomiasis,[PAH associated with schistosomiasis],"Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis (see this term).",,,,,,,,, +GARD:21033,Active,Orphanet,ORPHA:275828,Group of disorders,[Clinical group],Pulmonary arterial hypertension associated with chronic hemolytic anemia,[PAH associated with chronic hemolytic anemia],Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia.,,,,,,,,, +GARD:21034,Active,Orphanet,ORPHA:275837,Group of disorders,[Clinical group],Pulmonary hypertension owing to lung disease and/or hypoxia,"[PH due to lung disease and/or hypoxia, PH owing to lung disease and/or hypoxia, Pulmonary hypertension due to lung disease and/or hypoxia]",,,,,,,,,, +GARD:21035,Active,Orphanet,ORPHA:275844,Group of disorders,[Clinical group],Pulmonary hypertension with unclear multifactorial mechanism,[PH with unclear multifactorial mechanism],,,,,,,,,, +GARD:21036,Active,Orphanet,ORPHA:275853,Group of disorders,[Category],Syndrome with pulmonary hypertension as a major feature,,,,,,,,,,, +GARD:21037,Active,Orphanet,ORPHA:275938,Group of disorders,[Category],Hemolytic disease due to fetomaternal alloimmunization,"[HDFN, Hemolytic disease of the fetus and newborn]",,,,,,,,,, +GARD:21038,Active,Orphanet,ORPHA:275944,Disorder,[Disease],Hemolytic disease of the newborn with Kell alloimmunization,"[Anti-K HDN, Maternal anti-Kell alloimmunization]","A rare hematologic disease characterized by the transfer of maternal alloantibodies against red blood cell antigens of the Kell family to a fetus positive for this antigen across the placental barrier, causing suppression of erythropoiesis with reticulocytopenia and anemia, as well as alloimmune hemolysis. Severe anemia may lead to hydrops fetalis. Significant hyperbilirubinemia is rare in this condition.",,,,,,,,, +GARD:21039,Active,Orphanet,ORPHA:276058,Group of disorders,[Category],Genetic neurodegenerative disease with dementia,,,,,,,,,,, +GARD:2104,Active,Orphanet,ORPHA:1928,Disorder,[Morphological anomaly],Congenital lobar emphysema,"[Congenital lobar hyperinflation, Infantile lobar hyperinflation]",A respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.,[130710],,,,,Congenital lobar emphysema,TRUE,FALSE,Active +GARD:21040,Active,Orphanet,ORPHA:276061,Group of disorders,[Category],Genetic frontotemporal degeneration with dementia,,,,,,,,,,, +GARD:21041,Active,Orphanet,ORPHA:276066,Disorder,[Disease],Bile acid CoA ligase deficiency and defective amidation,,"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure.",,,,,,,,, +GARD:21042,Active,Orphanet,ORPHA:276142,Group of disorders,[Category],Rare tumor of salivary glands,,,,,,,,,,, +GARD:21043,Active,Orphanet,ORPHA:276145,Disorder,[Disease],Malignant epithelial tumor of salivary glands,,"Malignant epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, otorrhoea, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, dyspnea, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy.",,,,,,,,, +GARD:21044,Active,Orphanet,ORPHA:276161,Group of disorders,[Clinical group],Multiple endocrine neoplasia,[MEN],"Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.",,,,,,,,, +GARD:21045,Active,Orphanet,ORPHA:276174,Disorder,[Disease],Idiopathic recurrent stupor,,"A rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.",,,,,,,,, +GARD:21046,Active,Orphanet,ORPHA:276212,Subtype of disorder,[Clinical subtype],"Mucopolysaccharidosis type 6, rapidly progressing","[Arylsulfatase B deficiency, rapidly progressing, MPS6, rapidly progressing, MPSVI, rapidly progressing, Mucopolysaccharidosis type VI, rapidly progressing]",,,,,,,,,, +GARD:21047,Active,Orphanet,ORPHA:276223,Subtype of disorder,[Clinical subtype],"Mucopolysaccharidosis type 6, slowly progressing","[Arylsulfatase B deficiency, slowly progressing, MPS6, slowly progressing, MPSVI, slowly progressing, Mucopolysaccharidosis type VI, slowly progressing]",,,,,,,,,, +GARD:21048,Active,Orphanet,ORPHA:276238,Subtype of disorder,[Clinical subtype],Machado-Joseph disease type 1,"[SCA3, Joseph type, Spinocerebellar ataxia type 3, Joseph type]","Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.",,,,,,,,, +GARD:21049,Active,Orphanet,ORPHA:276241,Subtype of disorder,[Clinical subtype],Machado-Joseph disease type 2,"[SCA3, Thomas type, Spinocerebellar ataxia, Thomas type]","Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.",,,,,,,,, +GARD:21050,Active,Orphanet,ORPHA:276244,Subtype of disorder,[Clinical subtype],Machado-Joseph disease type 3,"[SCA3, Machado type, Spinocerebellar ataxia type 3, Machado type]","Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.",,,,,,,,, +GARD:21051,Active,Orphanet,ORPHA:276280,Disorder,[Malformation syndrome],Hemihyperplasia-multiple lipomatosis syndrome,[HHML],"Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.",,,,,,,,, +GARD:21052,Active,Orphanet,ORPHA:276422,Disorder,[Malformation syndrome],10q22.3q23.3 microduplication syndrome,"[Dup(10)(q22.3q23.3), Trisomy 10q22.3q23.3]","10q22.3q23.3 microduplication syndrome is a rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.",,,,,,,,, +GARD:21053,Active,Orphanet,ORPHA:276525,Group of disorders,[Category],Familial hyperinsulinism,"[FHI, Familial hyperinsulinemic hypoglycemia]",,,,,,,,,, +GARD:21054,Active,Orphanet,ORPHA:276556,Disorder,[Disease],Hyperinsulinism due to UCP2 deficiency,[Hyperinsulinemic hypoglycemia due to UCP2 deficiency],"A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.",,,,,,,,, +GARD:21055,Active,Orphanet,ORPHA:276585,Group of disorders,[Clinical group],Diazoxide-resistant hyperinsulinism,[Diazoxide-resistant hyperinsulinemic hypoglycemia],"A form of congenital isolated hyperinsulism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. Pancreatic involvement can be diffuse or focal.",,,,,,,,, +GARD:21056,Active,Orphanet,ORPHA:276608,Disorder,[Disease],Non-insulinoma pancreatogenous hypoglycemia syndrome,[NIPHS],,,,,,,,,, +GARD:21057,Active,Orphanet,ORPHA:276630,Disorder,[Malformation syndrome],Symptomatic form of Coffin-Lowry syndrome in female carriers,,"A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported.",,,,,,,,, +GARD:21058,Active,Orphanet,ORPHA:279882,Disorder,[Clinical syndrome],Spasmus nutans,,"Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.",,,,,,,,, +GARD:21059,Active,Orphanet,ORPHA:279888,Subtype of disorder,[Clinical subtype],Acute endophthalmitis,,,,,,,,,,, +GARD:2106,Legacy,GARD,,,,,,,,,,,,Enamel hypoplasia cataract hydrocephaly,TRUE,FALSE,Active +GARD:21060,Active,Orphanet,ORPHA:279891,Subtype of disorder,[Clinical subtype],Chronic endophthalmitis,,,,,,,,,,, +GARD:21061,Active,Orphanet,ORPHA:279894,Disorder,[Disease],Toxic maculopathy due to antimalarial drugs,,"Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.",,,,,,,,, +GARD:21062,Active,Orphanet,ORPHA:279897,Disorder,[Disease],Primary oculocerebral lymphoma,[Primary oculocerebral non-Hodgkin lymphoma],"Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.",,,,,,,,, +GARD:21063,Active,Orphanet,ORPHA:279904,Disorder,[Disease],Primary intraocular lymphoma,"[PIOL, Primary intraocular non-Hodgkin lymphoma]",,,,,,,,,, +GARD:21064,Active,Orphanet,ORPHA:279911,Group of disorders,[Category],Primary organ-specific lymphoma,,,,,,,,,,, +GARD:21065,Active,Orphanet,ORPHA:279914,Disorder,[Disease],Intermediate uveitis,[IU],"A rare ophthalmic disorder characterized by intraocular inflammation primarily localized to the vitreous and peripheral retina. It incorporates pars planitis, posterior cyclitis, and hyalitis. Patients present with painless floaters, decreased or blurred vision, less frequently with pain, redness, and photophobia. On examination, snow banking, vitreous snowballs, peripheral retinal vascular sheathing, vitreous cells, and vitreous haze can be seen. Complications include epiretinal membrane formation, cataract formation, cystoid macular edema, or band keratopathy, among others. The condition may be idiopathic or occur in the context of infectious or systemic diseases.",,,,,,,,, +GARD:21066,Active,Orphanet,ORPHA:279919,Disorder,[Disease],Infectious posterior uveitis,,"A rare ophthalmic disorder characterized by inflammation of the posterior uveal tract (retina and choroid), due to an infectious etiology. Presenting symptoms are decreased visual acuity, visual field defects, floaters, photopsia, photophobia, and occasionally pain. Signs on examination include conjunctival injection, keratic precipitates, retrolental cells, inflammatory infiltrates on the retina, macular edema, and peripheral retinal neovascularization, among others. Complications (such as cataracts, band keratopathy, glaucoma, cystoid macula edema, and retinal detachment) may lead to permanent vision loss.",,,,,,,,, +GARD:21067,Active,Orphanet,ORPHA:279922,Disorder,[Disease],Infectious anterior uveitis,,"A rare ophthalmic disorder characterized by inflammation primarily of the anterior part of the uvea (iris and ciliary body), due to an infectious etiology. Clinical symptoms are pain, redness, photophobia, and variable visual loss. Signs on examination include presence of inflammatory cells in the anterior chamber and anterior vitreous, keratic precipitates, hypopyon, iris nodules, posterior synechiae, and miosis, among others.",,,,,,,,, +GARD:21068,Active,Orphanet,ORPHA:279925,Disorder,[Disease],Infectious panuveitis,,"A rare ophthalmic disorder characterized by generalized inflammation of all parts of the uveal tract (iris, ciliary body, and choroid), simultaneously involving adjacent vitreous and retina, without any predominant site of inflammation, due to viral, bacterial, fungal, or parasitic infections. Clinical symptoms include pain, photophobia, redness, blurring of vision, and floaters. Signs on examination are lid edema, ciliary injection, chemosis, keratic precipitates, cells in the anterior chamber, hypopyon, iris nodules and neovascularization, posterior synechiae, macular edema, vitreous and retinal hemorrhage, and retinal detachment, among others. Complications may result in visual loss.",,,,,,,,, +GARD:21069,Active,Orphanet,ORPHA:279928,Disorder,[Disease],Paraneoplastic uveitis,,,,,,,,,,, +GARD:21070,Active,Orphanet,ORPHA:280065,Subtype of disorder,[Clinical subtype],Calciphylaxis cutis,,"A rare, life-threatening, non-inflammatory vasculopathy characterized clinically by progressive and painful skin lesions associated with calcification of cutaneous arterial microvessels. Calciphylaxis predominantly affects patients with end-stage kidney disease (ESKD) on dialysis.",,,,,,,,, +GARD:21071,Active,Orphanet,ORPHA:280068,Subtype of disorder,[Clinical subtype],Visceral calciphylaxis,,"A rare, life-threatening, non-inflammatory vasculopathy characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually causes tissue necrosis. Depending on the affected organ, patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death. The disease predominantly affects patients with end-stage kidney disease (ESKD) on dialysis.",,,,,,,,, +GARD:21072,Active,Orphanet,ORPHA:280205,Subtype of disorder,[Clinical subtype],Laryngotracheoesophageal cleft type 0,"[LTEC0, Laryngo-tracheo-esophageal cleft type 0]",Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.,,,,,,,,, +GARD:21073,Active,Orphanet,ORPHA:280219,Subtype of disorder,[Clinical subtype],"Pelizaeus-Merzbacher disease, classic form",[Classic PMD],The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.,,,,,,,,, +GARD:21074,Active,Orphanet,ORPHA:280224,Subtype of disorder,[Clinical subtype],"Pelizaeus-Merzbacher disease, transitional form",[Transitional PMD],The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term).,,,,,,,,, +GARD:21075,Active,Orphanet,ORPHA:280229,Subtype of disorder,[Clinical subtype],Pelizaeus-Merzbacher disease in female carriers,,Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD (see this term) in some women carrying mutations in the PLP1 gene (Xq22).,,,,,,,,, +GARD:21076,Active,Orphanet,ORPHA:280302,Subtype of disorder,[Clinical subtype],Autoimmune pancreatitis type 1,"[AIP type 1, IgG4-related pancreatitis, Lymphoplasmacytic sclerosing pancreatitis]","Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.",,,,,,,,, +GARD:21077,Active,Orphanet,ORPHA:280315,Disorder,[Disease],Autoimmune pancreatitis type 2,"[AIP type 2, Duct-centric pancreatitis]","Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.",,,,,,,,, +GARD:21078,Active,Orphanet,ORPHA:280325,Disorder,[Malformation syndrome],Distal monosomy 12p,"[12p13.33 microdeletion syndrome, Del(12)(p13.33), Distal deletion 12p]","A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.",,,,,,,,, +GARD:21079,Active,Orphanet,ORPHA:280342,Group of disorders,[Category],Rare systemic or rheumatological disease of childhood,,,,,,,,,,, +GARD:2108,Active,Orphanet,ORPHA:2396,Disorder,[Disease],Encephalocraniocutaneous lipomatosis,[Haberland syndrome],"A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.",[613001],,,,,Encephalocraniocutaneous lipomatosis,TRUE,FALSE,Active +GARD:21080,Active,Orphanet,ORPHA:280365,Disorder,[Disease],Autosomal semi-dominant severe lipodystrophic laminopathy,,"A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.",,,,,,,,, +GARD:21081,Active,Orphanet,ORPHA:280369,Group of disorders,[Category],Rare pediatric vasculitis,,,,,,,,,,, +GARD:21082,Active,Orphanet,ORPHA:280373,Group of disorders,[Category],Rare pediatric systemic disease,,,,,,,,,,, +GARD:21083,Active,Orphanet,ORPHA:280384,Disorder,[Disease],Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,[IDMDC],"Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.",,,,,,,,, +GARD:21084,Active,Orphanet,ORPHA:280397,Disorder,[Disease],Familial Alzheimer-like prion disease,,"Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease (see this term) characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.",,,,,,,,, +GARD:21085,Active,Orphanet,ORPHA:280400,Group of disorders,[Category],Inherited human prion disease,"[Familial prion disease, Genetic human prion disease]",,,,,,,,,, +GARD:21086,Active,Orphanet,ORPHA:280403,Disorder,[Malformation syndrome],Familial omphalocele syndrome with facial dysmorphism,,"Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.",,,,,,,,, +GARD:21087,Active,Orphanet,ORPHA:280774,Disorder,[Disease],Generalized essential telangiectasia,[GET],"A rare skin disease characterized by widespread cutaneous telangiectases usually first appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or confluent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded.",,,,,,,,, +GARD:21088,Active,Orphanet,ORPHA:280785,Subtype of disorder,[Clinical subtype],Bullous diffuse cutaneous mastocytosis,[Bullous DCM],Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.,,,,,,,,, +GARD:21089,Active,Orphanet,ORPHA:280794,Subtype of disorder,[Clinical subtype],Pseudoxanthomatous diffuse cutaneous mastocytosis,"[Infiltrative small vesicular DCM, Infiltrative small vesicular diffuse cutaneous mastocytosis, Pseudoxanthomatous DCM]",Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.,,,,,,,,, +GARD:2109,Legacy,GARD,,,,,,,,,,,,Encephalocele anencephaly,TRUE,FALSE,Active +GARD:21090,Active,Orphanet,ORPHA:280802,Subtype of disorder,[Clinical subtype],Intralobar congenital pulmonary sequestration,"[Congenital intrapulmonary sequestration, Intralobar congenital bronchopulmonary sequestration]",,,,,,,,,, +GARD:21091,Active,Orphanet,ORPHA:280811,Subtype of disorder,[Clinical subtype],Extralobar congenital pulmonary sequestration,"[Congenital extrapulmonary sequestration, Extralobar congenital bronchopulmonary sequestration]",,,,,,,,,, +GARD:21092,Active,Orphanet,ORPHA:280821,Subtype of disorder,[Clinical subtype],Communicating congenital bronchopulmonary-foregut malformation,,,,,,,,,,, +GARD:21093,Active,Orphanet,ORPHA:280827,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 0,"[CPAM type 0, Congenital cystic adenomatoid malformation of the lung type 0, Congenital cystic adenomatous malformation of the lung type 0]","A rare subtype of congenital pulmonary airway malformation characterized by global arrest of lung development with small, solid appearing lungs with a diffusely granular surface, histologically featuring bronchus-like structures with smooth muscle, glands, and numerous cartilage plates, embedded in loose, vascular mesenchymal tissue. The condition presents at birth and is incompatible with life.",,,,,,,,, +GARD:21094,Active,Orphanet,ORPHA:280832,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 1,"[CCAM type 1, CPAM type 1, Congenital cystic adenomatoid malformation of the lung type 1, Congenital cystic adenomatous malformation of the lung type 1, Congenital cystic disease of the lung type 1]","A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue with one or more dominant cysts of 2 to 10 cm in diameter, which may be surrounded by smaller cysts. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Small lesions may remain asymptomatic, while most cases present with respiratory distress in the neonatal period or in infancy, or with recurrent respiratory infections later in life. Pulmonary hypoplasia and severe fetal hydrops are rare complications. The condition is associated with an increased risk of pulmonary malignancy, such as bronchoalveolar carcinoma.",,,,,,,,, +GARD:21095,Active,Orphanet,ORPHA:280840,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 2,"[CCAM type 2, CPAM type 2, Congenital cystic adenomatoid malformation of the lung type 2, Congenital cystic adenomatous malformation of the lung type 2, Congenital cystic disease of the lung type 2]","A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, consisting of small cysts of less than 2 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. The condition often presents with respiratory distress in the neonatal period or in infancy. It is frequently associated with other severe congenital anomalies, such as renal agenesis or dysgenesis, pulmonary sequestration, or cardiac abnormalities.",,,,,,,,, +GARD:21096,Active,Orphanet,ORPHA:280847,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 3,"[CCAM type 3, CPAM type 3, Congenital cystic adenomatoid malformation of the lung type 3, Congenital cystic adenomatous malformation of the lung type 3, Congenital cystic disease of the lung type 3]","A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue consisting of numerous microcysts of less than 0.5 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving an entire lobe. The condition may be associated with polyhydramnios, fetal hydrops, and stillbirth, or present with severe respiratory distress in the neonatal period.",,,,,,,,, +GARD:21097,Active,Orphanet,ORPHA:280854,Subtype of disorder,[Clinical subtype],Congenital pulmonary airway malformation type 4,"[CPAM type 4, Congenital cystic adenomatoid malformation of the lung type 4, Congenital cystic adenomatous malformation of the lung type 4]","A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, with peripheral, large, thin-walled, often multiloculated cysts, which may be 8 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Patients present with respiratory distress or respiratory infections in the neonatal period or in infancy. The condition is often associated with tension pneumothorax, signs of mediastinal shift, and malignant transformation to pleuropulmonary blastoma type 1.",,,,,,,,, +GARD:21098,Active,Orphanet,ORPHA:280914,Disorder,[Disease],Idiopathic anterior uveitis,,"A rare ophthalmic disorder characterized by intraocular inflammation with the anterior chamber as the predominant site of inflammation, without any identifiable etiology. Presenting symptoms are pain, redness, photophobia, and sometimes blurred vision. Signs on examination include anterior chamber cell and flare, limbal vascular injection, and keratic precipitates, among others.",,,,,,,,, +GARD:21099,Active,Orphanet,ORPHA:280917,Disorder,[Disease],Idiopathic posterior uveitis,,"Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.",,,,,,,,, +GARD:211,Legacy,GARD,,,,,,,,,,,,Smith-Lemli-Opitz syndrome type 2,FALSE,FALSE,Retired +GARD:21100,Active,Orphanet,ORPHA:280921,Disorder,[Disease],Idiopathic panuveitis,,"Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.",,,,,,,,, +GARD:21101,Active,Orphanet,ORPHA:280926,Group of disorders,[Category],Systemic diseases with anterior uveitis,,,,,,,,,,, +GARD:21102,Active,Orphanet,ORPHA:280930,Group of disorders,[Category],Systemic diseases with posterior uveitis,,,,,,,,,,, +GARD:21103,Active,Orphanet,ORPHA:280933,Group of disorders,[Category],Systemic diseases with panuveitis,,,,,,,,,,, +GARD:21104,Active,Orphanet,ORPHA:281082,Group of disorders,[Category],Inherited non-syndromic ichthyosis,,,,,,,,,,, +GARD:21105,Active,Orphanet,ORPHA:281085,Group of disorders,[Category],Inherited ichthyosis syndromic form,,,,,,,,,,, +GARD:21106,Active,Orphanet,ORPHA:281097,Group of disorders,[Clinical group],Autosomal recessive congenital ichthyosis,[ARCI],,,,,,,,,, +GARD:21107,Active,Orphanet,ORPHA:281103,Group of disorders,[Clinical group],Keratinopathic ichthyosis,[KPI],"A group of rare inherited non-syndromic ichthyoses characterized by mutations in keratin genes. Mutations in KRT1 and KRT10 cause most cases of epidermolytic ichthyosis (EI), as well as congenital reticular ichthyosiform erythroderma (CRIE). EI manifests at birth with generalized blistering, which later transforms into hyperkeratosis. Severe palmoplantar involvement is suggestive of the presence of a KRT1 mutation. CRIE patients present at birth with erythroderma and scaling, often with a collodion membrane, and gradually develop confetti-like clear areas of normal skin. KRT2 mutations are associated with superficial epidermolytic ichthyosis (SEI), which is clinically similar to EI, but generally milder and more localized.",,,,,,,,, +GARD:21108,Active,Orphanet,ORPHA:281127,Disorder,[Disease],Acral self-healing collodion baby,[Acral SHCB],A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.,,,,,,,,, +GARD:21109,Active,Orphanet,ORPHA:281210,Group of disorders,[Clinical group],X-linked ichthyosis syndrome,,,,,,,,,,, +GARD:21110,Active,Orphanet,ORPHA:281217,Group of disorders,[Category],Autosomal ichthyosis syndrome,,,,,,,,,,, +GARD:21111,Active,Orphanet,ORPHA:281222,Group of disorders,[Category],Autosomal ichthyosis syndrome with prominent hair abnormalities,,,,,,,,,,, +GARD:21112,Active,Orphanet,ORPHA:281238,Group of disorders,[Category],Autosomal ichthyosis syndrome with prominent neurologic signs,,,,,,,,,,, +GARD:21113,Active,Orphanet,ORPHA:281241,Group of disorders,[Category],Autosomal ichthyosis syndrome with fatal disease course,,,,,,,,,,, +GARD:21114,Active,Orphanet,ORPHA:281244,Group of disorders,[Category],Autosomal ichthyosis syndrome with other associated signs,,,,,,,,,,, +GARD:21115,Active,Orphanet,ORPHA:282124,Group of disorders,[Category],Partial deletion of chromosome 12,[Partial monosomy of chromosome 12],,,,,,,,,, +GARD:21116,Active,Orphanet,ORPHA:282196,Group of disorders,[Clinical group],Autoimmune polyendocrinopathy,"[APS, Autoimmune polyglandular syndrome]","A group of rare endocrine diseases characterized by autoimmune activity against more than one endocrine organ, with possible additional involvement of non-endocrine organs. Autoimmunity is typically directed against different target antigens in different tissues. The two more common autoimmune polyendocrine syndromes (APS), APS type 1 and type 2, have a strong genetic background and have Addison's disease as a major feature. The group furthermore includes APS type 3 and type 4.",,,,,,,,, +GARD:21117,Active,Orphanet,ORPHA:284180,Disorder,[Malformation syndrome],Xp22.13p22.2 duplication syndrome,"[Dup(X)(p22), Dup(X)(p22.13p22.2), Duplication Xp22]","Xp22.13p22.2 duplication syndrome is a rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.",,,,,,,,, +GARD:21118,Active,Orphanet,ORPHA:284362,Subtype of disorder,[Clinical subtype],Fetal lung interstitial tumor,"[FLIT, Immature interstitial mesenchymal tumor]",,,,,,,,,, +GARD:21119,Active,Orphanet,ORPHA:284385,Group of disorders,[Category],Familial intrahepatic cholestasis,,,,,,,,,,, +GARD:21120,Active,Orphanet,ORPHA:284395,Disorder,[Disease],Well-differentiated fetal adenocarcinoma of the lung,[WDFA],"Well-differentiated fetal adenocarcinoma of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.",,,,,,,,, +GARD:21121,Active,Orphanet,ORPHA:284460,Disorder,[Disease],Acute annular outer retinopathy,[AAOR],"A rare, acquired retinal disorder characterized by unilateral, acute onset, rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning, and normal retina. Gradual spontaneous visual recovery has been observed.",,,,,,,,, +GARD:21122,Active,Orphanet,ORPHA:284786,Group of disorders,[Category],Qualitative or quantitative defects of troponin,,,,,,,,,,, +GARD:21123,Active,Orphanet,ORPHA:284790,Group of disorders,[Category],Qualitative or quantitative defects of tropomyosin,,,,,,,,,,, +GARD:21124,Active,Orphanet,ORPHA:284804,Group of disorders,[Clinical group],Ocular albinism,,,,,,,,,,, +GARD:21125,Active,Orphanet,ORPHA:284811,Group of disorders,[Category],Syndromic oculocutaneous albinism,,,,,,,,,,, +GARD:21126,Active,Orphanet,ORPHA:284814,Group of disorders,[Category],Disorder of phenylalanine metabolism,,,,,,,,,,, +GARD:21127,Active,Orphanet,ORPHA:284818,Group of disorders,[Category],Disorder of tyrosine metabolism,,,,,,,,,,, +GARD:21128,Active,Orphanet,ORPHA:284979,Disorder,[Disease],Neonatal Marfan syndrome,[Neonatal MFS],"Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.",,,,,,,,, +GARD:21129,Active,Orphanet,ORPHA:284993,Group of disorders,[Category],Marfan syndrome and Marfan-related disorders,,,,,,,,,,, +GARD:2113,Active,Orphanet,ORPHA:1261,Disorder,[Malformation syndrome],Bonnemann-Meinecke-Reich syndrome,[Encephalopathy-intracerebral calcification-retinal degeneration syndrome],"Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.",[225755],,,,,Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration,TRUE,FALSE,Active +GARD:21130,Active,Orphanet,ORPHA:285014,Group of disorders,[Category],Rare disease with thoracic aortic aneurysm and aortic dissection,,,,,,,,,,, +GARD:21131,Active,Orphanet,ORPHA:285657,Group of disorders,[Category],Disorder of folate metabolism and transport,,,,,,,,,,, +GARD:21132,Active,Orphanet,ORPHA:289098,Group of disorders,[Category],Disorders of vitamin D metabolism,,,,,,,,,,, +GARD:21133,Active,Orphanet,ORPHA:289103,Group of disorders,[Clinical group],Hypocalcemic rickets,,"A group of rare genetic, vitamin D metabolism disorders characterized by hypocalcemia and rickets, and comprising of hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). Characteristic clinical features include slow growth, bone pain and bone deformities. HVDRR is associated with resistance to vitamin D treatment.",,,,,,,,, +GARD:21134,Active,Orphanet,ORPHA:289266,Disorder,[Disease],Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,,"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.",,,,,,,,, +GARD:21135,Active,Orphanet,ORPHA:289347,Disorder,[Disease],Infective dermatitis associated with HTLV-1,"[IDH, Infective dermatitis associated with human T-lymphotropic virus type 1, Infective dermatitis associated with human T-lymphotropic virus type I]","Infective dermatitis associated with HTLV-1 is a rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis (see these terms).",,,,,,,,, +GARD:21136,Active,Orphanet,ORPHA:289356,Disorder,[Disease],Primary non-gestational choriocarcinoma of ovary,"[NGCO, Primary non-gestational ovarian choriocarcinoma]","Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor (see this term), arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma (see this term) and hence should be distinguished from the latter by DNA polymorphism.",,,,,,,,, +GARD:21137,Active,Orphanet,ORPHA:289362,Subtype of disorder,[Clinical subtype],Non-central nervous system-localized embryonal carcinoma,[Non-CNS-localized embryonal carcinoma],,,,,,,,,, +GARD:21138,Active,Orphanet,ORPHA:289385,Disorder,[Particular clinical situation in a disease or syndrome],Malignancy diagnosed during pregnancy,[Cancer diagnosed during pregnancy],,,,,,,,,, +GARD:21139,Active,Orphanet,ORPHA:289478,Disorder,[Disease],Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome,[PASH syndrome],"A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.",,,,,,,,, +GARD:21140,Active,Orphanet,ORPHA:289494,Disorder,[Disease],4H leukodystrophy,[POLR-related leukodystrophy],"A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.",,,,,,,,, +GARD:21141,Active,Orphanet,ORPHA:289513,Disorder,[Malformation syndrome],12q15q21.1 microdeletion syndrome,"[Del(12)(q15)(q21.1), Deletion 12q15q21.1, Monosomy 12q15q21.1]","12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.",,,,,,,,, +GARD:21142,Active,Orphanet,ORPHA:289522,Disorder,[Malformation syndrome],Microtriplication 11q24.1,[Tetrasomy 11q24.1],"Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.",,,,,,,,, +GARD:21143,Active,Orphanet,ORPHA:289548,Disorder,[Disease],Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,,"Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.",,,,,,,,, +GARD:21144,Active,Orphanet,ORPHA:289596,Disorder,[Disease],Juvenile nasopharyngeal angiofibroma,[JNA],"Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.",,,,,,,,, +GARD:21145,Active,Orphanet,ORPHA:289635,Group of disorders,[Category],Rare virus associated tumor,,,,,,,,,,, +GARD:21146,Active,Orphanet,ORPHA:289638,Group of disorders,[Category],Epstein-Barr Virus-related tumor,[EBV-related tumor],,,,,,,,,, +GARD:21147,Active,Orphanet,ORPHA:289644,Group of disorders,[Category],Epstein-Barr virus-associated malignant lymphoproliferative disorder,[EBV-associated lymphoproliferative disorder],,,,,,,,,, +GARD:21148,Active,Orphanet,ORPHA:289651,Group of disorders,[Category],Epstein-Barr Virus-associated carcinoma,[EBV-associated carcinoma],,,,,,,,,, +GARD:21149,Active,Orphanet,ORPHA:289656,Group of disorders,[Category],Epstein-Barr Virus-associated mesenchymal tumor,[EBV-associated mesenchymal tumor],,,,,,,,,, +GARD:21150,Active,Orphanet,ORPHA:289661,Disorder,[Disease],Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly,[EBV-positive DLBCL of the elderly],"Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.",,,,,,,,, +GARD:21151,Active,Orphanet,ORPHA:289682,Disorder,[Disease],Lymphoepithelial-like carcinoma,,"Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.",,,,,,,,, +GARD:21152,Active,Orphanet,ORPHA:289685,Disorder,[Disease],Myopericytoma,,"A rare soft tissue tumor characterized by a benign subcutaneous lesion composed of oval-to-spindle shaped myoid appearing cells with a tendency for concentric perivascular growth. The tumor usually presents as a painless, slowly growing nodule, which may be solitary or appear as multiple lesions, which then arise metachronously and usually involve a particular anatomic region. Recurrence after surgical excision may occur in poorly circumscribed tumors. Malignancy is very rare.",,,,,,,,, +GARD:21153,Active,Orphanet,ORPHA:289825,Group of disorders,[Clinical group],Late-onset primary lymphedema without systemic or visceral involvement,,,,,,,,,,, +GARD:21154,Active,Orphanet,ORPHA:289829,Group of disorders,[Category],Disorder of tryptophan metabolism,,,,,,,,,,, +GARD:21155,Active,Orphanet,ORPHA:289832,Group of disorders,[Category],Disorder of lysine and hydroxylysine metabolism,,,,,,,,,,, +GARD:21156,Active,Orphanet,ORPHA:289841,Group of disorders,[Category],Disorder of glutamine metabolism,,,,,,,,,,, +GARD:21157,Active,Orphanet,ORPHA:289866,Group of disorders,[Category],Disorder of proline metabolism,,,,,,,,,,, +GARD:21158,Active,Orphanet,ORPHA:289869,Group of disorders,[Category],Disorder of ornithine metabolism,,,,,,,,,,, +GARD:21159,Active,Orphanet,ORPHA:289877,Disorder,[Particular clinical situation in a disease or syndrome],Transient hyperammonemia of the newborn,,,,,,,,,,, +GARD:21160,Active,Orphanet,ORPHA:290836,Group of disorders,[Category],Systemic disease with skin involvement,,,,,,,,,,, +GARD:21161,Active,Orphanet,ORPHA:290839,Group of disorders,[Category],Autoinflammatory syndrome with immune deficiency,,,,,,,,,,, +GARD:21162,Active,Orphanet,ORPHA:290842,Group of disorders,[Category],Autoinflammatory syndrome with skin involvement,,,,,,,,,,, +GARD:21163,Active,Orphanet,ORPHA:290849,Group of disorders,[Category],Rare head and neck tumor,,,,,,,,,,, +GARD:21164,Active,Orphanet,ORPHA:293173,Disorder,[Disease],Acute generalized exanthematous pustulosis,"[AGEP, Pustular drug eruption, Toxic pustuloderma]","A rare toxic dermatosis disease characterized by the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an edematous and erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Acute onset of fever (>38°C), peripheral blood leukocytosis, and mild eosinophilia are accompanying features. Systemic involvement, with hepatic, renal or pulmonary dysfunction, occasionally occurs. Histologically reveals characteristic spongiform, subcorneal and/or intraepidermal, pustules, as well as marked edema of the papillary dermis, a perivascularly accentuated, neutrophil-rich inflammatory infiltrate, and intrapustular or intradermal eosinophils.",,,,,,,,, +GARD:21165,Active,Orphanet,ORPHA:293199,Subtype of disorder,[Clinical subtype],Pleomorphic rhabdomyosarcoma,,"A rare soft tissue sarcoma characterized by a high-grade lesion occurring almost exclusively in adults, composed of bizarre polygonal, round, and spindle cells with evidence of skeletal muscle differentiation. Patients usually present with a rapidly growing, painful mass located in the deep soft tissues of the extremities, but also other anatomic regions. Prognosis is generally poor.",,,,,,,,, +GARD:21166,Active,Orphanet,ORPHA:293284,Subtype of disorder,[Clinical subtype],Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria,"[BH4-responsive HPA/PKU, BH4-responsive hyperphenylalaninemia/phenylketonuria, Tetrahydrobiopterin-responsive HPA/PKU]","A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase.",,,,,,,,, +GARD:21167,Active,Orphanet,ORPHA:293375,Disorder,[Disease],Grayson-Wilbrandt corneal dystrophy,[GWCD],Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.,,,,,,,,, +GARD:21168,Active,Orphanet,ORPHA:293462,Disorder,[Disease],Pre-Descemet corneal dystrophy,[PDCD],"Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.",,,,,,,,, +GARD:21169,Active,Orphanet,ORPHA:293807,Disorder,[Disease],Ketamine-induced biliary dilatation,,"Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.",,,,,,,,, +GARD:2117,Legacy,GARD,,,,,,,,,,,,Encephalopathy recurrent of childhood,TRUE,FALSE,Active +GARD:21170,Active,Orphanet,ORPHA:293812,Disorder,[Disease],Fixed drug eruption,,"Fixed drug eruption is a rare toxic dermatosis disorder characterized by the appearance of a drug-induced rash which typically manifests with small (diameter less than 8 cm), erythematous, round, sometimes painful, plaques that result in long-lasting pigmentation and which recurr (usually at the same site) upon reexposure to the causative medication.",,,,,,,,, +GARD:21171,Active,Orphanet,ORPHA:293815,Group of disorders,[Category],Toxic dermatosis,,,,,,,,,,, +GARD:21172,Active,Orphanet,ORPHA:293830,Group of disorders,[Category],Constitutional dyserythropoietic anemia,,,,,,,,,,, +GARD:21173,Active,Orphanet,ORPHA:293948,Disorder,[Malformation syndrome],1p21.3 microdeletion syndrome,"[Del(1)(p21.3), Monosomy 1p21.3]","1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).",,,,,,,,, +GARD:21174,Active,Orphanet,ORPHA:293967,Disorder,[Malformation syndrome],Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,[Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome],"Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.",,,,,,,,, +GARD:21175,Active,Orphanet,ORPHA:294026,Disorder,[Malformation syndrome],Syndactyly-nystagmus syndrome due to 2q31.1 microduplication,"[Syndactyly-nystagmus syndrome due to dup(2)(q31.1), Syndactyly-nystagmus syndrome due to trisomy 2q31.1]","A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.",,,,,,,,, +GARD:21176,Active,Orphanet,ORPHA:294057,Group of disorders,[Category],Rare nevus,,,,,,,,,,, +GARD:21177,Active,Orphanet,ORPHA:294060,Group of disorders,[Clinical group],Multiple pterygium syndrome,,"A group of rare genetic disorders characterized by the presence of joint contractures and multiple soft tissue webs (pterygia) across the neck and various joints, as well as typical facial appearance and a variety of other congenital anomalies. Both lethal (lethal and X-linked lethal multiple pterygium syndrome) and non-lethal (autosomal recessive and autosomal dominant multiple pterygium syndrome) forms occur.",,,,,,,,, +GARD:21178,Active,Orphanet,ORPHA:294422,Disorder,[Clinical syndrome],Chronic intestinal failure,[CIF],"Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).",,,,,,,,, +GARD:21179,Active,Orphanet,ORPHA:294925,Group of disorders,[Clinical group],Amelia,,,,,,,,,,, +GARD:21180,Active,Orphanet,ORPHA:294927,Group of disorders,[Clinical group],Intercalary limb defects,[Intercalary meromelia],,,,,,,,,, +GARD:21181,Active,Orphanet,ORPHA:294944,Group of disorders,[Category],Congenital deformities of limbs,,,,,,,,,,, +GARD:21182,Active,Orphanet,ORPHA:294947,Group of disorders,[Category],Congenital deformities of fingers,,,,,,,,,,, +GARD:21183,Active,Orphanet,ORPHA:294949,Group of disorders,[Category],Joint formation defects,,,,,,,,,,, +GARD:21184,Active,Orphanet,ORPHA:294951,Group of disorders,[Category],Congenital joint dislocations,,,,,,,,,,, +GARD:21185,Active,Orphanet,ORPHA:294953,Group of disorders,[Category],Non syndromic limb overgrowth,,,,,,,,,,, +GARD:21186,Active,Orphanet,ORPHA:294955,Group of disorders,[Category],Syndrome with limb reduction defects,,,,,,,,,,, +GARD:21187,Active,Orphanet,ORPHA:294957,Group of disorders,[Category],Dysostosis with combined reduction defects of upper and lower limbs,,,,,,,,,,, +GARD:21188,Active,Orphanet,ORPHA:294959,Group of disorders,[Category],"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy",,,,,,,,,,, +GARD:21189,Active,Orphanet,ORPHA:294963,Group of disorders,[Clinical group],Popliteal pterygium syndrome,,,,,,,,,,, +GARD:21190,Active,Orphanet,ORPHA:294967,Disorder,[Morphological anomaly],Amelia of upper limb,,"A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.",,,,,,,,, +GARD:21191,Active,Orphanet,ORPHA:294969,Disorder,[Morphological anomaly],Amelia of lower limb,,"A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.",,,,,,,,, +GARD:21192,Active,Orphanet,ORPHA:294973,Disorder,[Morphological anomaly],Humeral agenesis/hypoplasia,"[Congenital absence of humerus, Congenital hypoplasia of humerus, Humeral intercalary meromelia]","Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.",,,,,,,,, +GARD:21193,Active,Orphanet,ORPHA:294977,Disorder,[Morphological anomaly],Congenital absence of thigh and lower leg with foot present,[Femorotibiofibular intercalary transverse meromelia],"Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.",,,,,,,,, +GARD:21194,Active,Orphanet,ORPHA:294979,Disorder,[Morphological anomaly],Congenital absence of both forearm and hand,[Radio-ulnar terminal transverse meromelia],"Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.",,,,,,,,, +GARD:21195,Active,Orphanet,ORPHA:294981,Disorder,[Morphological anomaly],Congenital absence of both lower leg and foot,[Tibiofibular terminal transverse meromelia],"Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.",,,,,,,,, +GARD:21196,Active,Orphanet,ORPHA:294983,Disorder,[Morphological anomaly],Acheiria,[Congenital absence of hand],A rare non-syndromic limb reduction defect characterized by the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral.,,,,,,,,, +GARD:21197,Active,Orphanet,ORPHA:294986,Disorder,[Morphological anomaly],Apodia,[Congenital absence of foot],"A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral.",,,,,,,,, +GARD:21198,Active,Orphanet,ORPHA:294988,Disorder,[Morphological anomaly],Congenital hypoplasia of thumb,"[Congenital absence/hypoplasia of thumb, Thumb hypodactyly, Thumb oligodactyly]","A rare congenital malformation characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.",,,,,,,,, +GARD:21199,Active,Orphanet,ORPHA:295002,Disorder,[Morphological anomaly],Hyperphalangy,"[Supernumerary phalanges, Supernumerary phalanx]","Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.",,,,,,,,, +GARD:212,Active,Orphanet,ORPHA:2709,Disorder,[Malformation syndrome],"Oculodental syndrome, Rutherfurd type","[Gingival hypertrophy-corneal dystrophy, Rutherfurd syndrome]","Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.",[180900],,,,,Rutherfurd syndrome,TRUE,FALSE,Active +GARD:21200,Active,Orphanet,ORPHA:295004,Disorder,[Morphological anomaly],Central polydactyly,[Mesoaxial polydactyly],A rare congenital limb malformation characterized by complete or partial duplication of one of the three middle digits in a hand or foot. It most commonly affects the fourth digit. The malformation may be unilateral or bilateral and can occur as an isolated defect or in association with other anomalies.,,,,,,,,, +GARD:21201,Active,Orphanet,ORPHA:295012,Disorder,[Morphological anomaly],Syndactyly type 6,"[Mitten hand, Syndactyly, mitten type, Unilateral syndactyly of digits 2-5]","A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers.",,,,,,,,, +GARD:21202,Active,Orphanet,ORPHA:295014,Disorder,[Morphological anomaly],Familial isolated clinodactyly of fingers,,"Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.",,,,,,,,, +GARD:21203,Active,Orphanet,ORPHA:295018,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the tibia,[Congenital pseudarthrosis of the tibia],"A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1.",,,,,,,,, +GARD:21204,Active,Orphanet,ORPHA:295020,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the femur,[Congenital pseudarthrosis of the femur],"A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. Congenital hip dysplasia and absence of the patella have been reported in association.",,,,,,,,, +GARD:21205,Active,Orphanet,ORPHA:295022,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the fibula,[Congenital pseudarthrosis of the fibula],"A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the tibia and neurofibromatosis type 1.",,,,,,,,, +GARD:21206,Active,Orphanet,ORPHA:295024,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the radius,[Congenital pseudarthrosis of the radius],"A rare bone development disorder characterized by abnormal bowing of the radius and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include radial deviation in the wrist joint and limited pronation and supination of the forearm. Neurofibromatosis type 1, osteofibrous dysplasia, and bowing and pseudoarthrosis of the ulna are frequently associated.",,,,,,,,, +GARD:21207,Active,Orphanet,ORPHA:295026,Subtype of disorder,[Clinical subtype],Congenital pseudoarthrosis of the ulna,[Congenital pseudarthrosis of the ulna],"A rare bone development disorder characterized by abnormal bowing of the ulna and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include concomitant bowing of the radius, abnormalities of the humeroulnar joint, and limited pronation or supination of the forearm. Neurofibromatosis type 1 and osteofibrous dysplasia are frequently associated.",,,,,,,,, +GARD:21208,Active,Orphanet,ORPHA:295028,Disorder,[Morphological anomaly],Tibio-fibular synostosis,[Tibio-fibular fusion],"Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.",,,,,,,,, +GARD:21209,Active,Orphanet,ORPHA:295030,Disorder,[Morphological anomaly],True congenital shoulder dislocation,,"A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation.",,,,,,,,, +GARD:2121,Legacy,GARD,,,,,,,,,,,,Endomyocardial fibroelastosis,TRUE,FALSE,Retired +GARD:21210,Active,Orphanet,ORPHA:295032,Disorder,[Morphological anomaly],Isolated congenital radial head dislocation,[Isolated congenital elbow dislocation],"A rare congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis.",,,,,,,,, +GARD:21211,Active,Orphanet,ORPHA:295034,Disorder,[Morphological anomaly],Congenital knee dislocation,,"A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. Larsen's syndrome, arthrogryposis multiplex congenita).",,,,,,,,, +GARD:21212,Active,Orphanet,ORPHA:295049,Disorder,[Morphological anomaly],Upper limb hypertrophy,,,,,,,,,,, +GARD:21213,Active,Orphanet,ORPHA:295051,Disorder,[Morphological anomaly],Lower limb hypertrophy,,"A rare, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.",,,,,,,,, +GARD:21214,Active,Orphanet,ORPHA:295189,Subtype of disorder,[Clinical subtype],Zygodactyly type 2,"[SD1, Lueken type, SD1b, Syndactyly type 1, Lueken type, Syndactyly type 1b, Zygodactyly, Lueken type]",,,,,,,,,, +GARD:21215,Active,Orphanet,ORPHA:295191,Subtype of disorder,[Clinical subtype],Zygodactyly type 3,"[SD1, Montagu type, SD1c, Syndactyly type 1, Montagu type, Syndactyly type 1c, Zygodactyly, Montagu type]",,,,,,,,,, +GARD:21216,Active,Orphanet,ORPHA:295193,Subtype of disorder,[Clinical subtype],Zygodactyly type 4,"[SD1, Castilla type, SD1d, Syndactyly type 1, Castilla type, Syndactyly type 1d, Zygodactyly, Castilla type]",,,,,,,,,, +GARD:21217,Active,Orphanet,ORPHA:295201,Subtype of disorder,[Clinical subtype],"Congenital vertical talus, unilateral",,,,,,,,,,, +GARD:21218,Active,Orphanet,ORPHA:295203,Subtype of disorder,[Clinical subtype],"Congenital vertical talus, bilateral",,,,,,,,,,, +GARD:21219,Active,Orphanet,ORPHA:295213,Subtype of disorder,[Clinical subtype],"Humero-ulnar synostosis, unilateral","[Humero-ulnar fusion, unilateral]",,,,,,,,,, +GARD:21220,Active,Orphanet,ORPHA:295215,Subtype of disorder,[Clinical subtype],"Humero-ulnar synostosis, bilateral","[Humero-ulnar fusion, bilateral]",,,,,,,,,, +GARD:21221,Active,Orphanet,ORPHA:295217,Subtype of disorder,[Clinical subtype],"Radio-ulnar synostosis, unilateral","[Radio-ulnar fusion, unilateral]",,,,,,,,,, +GARD:21222,Active,Orphanet,ORPHA:295219,Subtype of disorder,[Clinical subtype],"Radio-ulnar synostosis, bilateral","[Radio-ulnar fusion, bilateral]",,,,,,,,,, +GARD:21223,Active,Orphanet,ORPHA:295225,Subtype of disorder,[Clinical subtype],"Congenital elbow dislocation, unilateral",,,,,,,,,,, +GARD:21224,Active,Orphanet,ORPHA:295227,Subtype of disorder,[Clinical subtype],"Congenital elbow dislocation, bilateral",,,,,,,,,,, +GARD:21225,Active,Orphanet,ORPHA:295229,Subtype of disorder,[Clinical subtype],Congenital genu recurvatum,,"A rare congenital knee dislocation characterized by hyperextension of the knee greater than 0° associated with limited flexion, with prominence of the femoral condyles in the popliteal fossa and increased transverse skin folds over the anterior surface of the knee. It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot) or be part of a syndrome (e. g. Larsen's syndrome).",,,,,,,,, +GARD:21226,Active,Orphanet,ORPHA:295232,Subtype of disorder,[Clinical subtype],Congenital genu flexum,,A rare congenital knee dislocation characterized by permanent knee flexion with limited extension. It can be unilateral or bilateral and may occur as an isolated malformation or be part of a syndrome (especially arthrogryposis multiplex congenita).,,,,,,,,, +GARD:21227,Active,Orphanet,ORPHA:295239,Subtype of disorder,[Clinical subtype],"Macrodactyly of fingers, unilateral","[Macrodactyly of hand, unilateral]",,,,,,,,,, +GARD:21228,Active,Orphanet,ORPHA:295241,Subtype of disorder,[Clinical subtype],"Macrodactyly of fingers, bilateral","[Macrodactyly of hand, bilateral]",,,,,,,,,, +GARD:21229,Active,Orphanet,ORPHA:295243,Subtype of disorder,[Clinical subtype],"Macrodactyly of toes, unilateral","[Macrodactyly of foot, unilateral]",,,,,,,,,, +GARD:2123,Active,Orphanet,ORPHA:1937,Disorder,[Malformation syndrome],Eng-Strom syndrome,[Short stature-locking fingers syndrome],A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.,[135950],,,,,Eng Strom syndrome,TRUE,FALSE,Retired +GARD:21230,Active,Orphanet,ORPHA:295245,Subtype of disorder,[Clinical subtype],"Macrodactyly of toes, bilateral","[Macrodactyly of foot, bilateral]",,,,,,,,,, +GARD:21231,Active,Orphanet,ORPHA:298644,Group of disorders,[Category],Disorder of thiamine metabolism and transport,,,,,,,,,,, +GARD:21232,Active,Orphanet,ORPHA:300305,Disorder,[Malformation syndrome],11p15.4 microduplication syndrome,"[Dup(11)p(15.4), Trisomy 11p15.4]","A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.",,,,,,,,, +GARD:21233,Active,Orphanet,ORPHA:300493,Disorder,[Particular clinical situation in a disease or syndrome],Sagliker syndrome,,"A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, ''brown tumors'' in the mouth, hearing loss, and neuropsychiatric disorders.",,,,,,,,, +GARD:21234,Active,Orphanet,ORPHA:300512,Disorder,[Disease],Onychomatricoma,,"Onychomatricoma is a rare, benign nail tumor originating in the nail matrix characterized by localized or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter hemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail dystrophy and dorsal pterygium may be associated. Occasionally, a pigmented lesion has been reported.",,,,,,,,, +GARD:21235,Active,Orphanet,ORPHA:300515,Group of disorders,[Category],Rare nail tumor,,,,,,,,,,, +GARD:21236,Active,Orphanet,ORPHA:300552,Disorder,[Disease],Follicular cholangitis and pancreatitis,[Follicular pancreatocholangitis],"Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.",,,,,,,,, +GARD:21237,Active,Orphanet,ORPHA:300557,Disorder,[Disease],Carcinoma of the ampulla of Vater,"[Ampullary carcinoma, Ampulloma]","Carcinoma of the ampulla of Vater is a rare malignant tumor originating from the ampulla of Vater that can present with symptoms of general fatigue, loss of appetite, weight loss, nausea, vomiting, abdominal pain and, most commonly, painless obstructive jaundice. The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. In general, carcinoma of the ampulla of Vater has a better prognosis (5-year survival rate of 45%) than cancers of the distal bile duct and pancreas.",,,,,,,,, +GARD:21238,Active,Orphanet,ORPHA:300564,Disorder,[Disease],Combined pulmonary fibrosis-emphysema syndrome,[CPFE],"A rare interstitial lung disease characterized by the coexistence of emphysema and usual interstitial pneumonia, typically occurring in male smokers. Emphysema is usually encountered in the upper lobes, preceding fibrosis of the lower lobes. Patients present with severe dyspnea and markedly reduced diffusion capacity on functional testing, while spirometric values are relatively preserved. The syndrome is frequently complicated by pulmonary hypertension and acute lung injury.",,,,,,,,, +GARD:21239,Active,Orphanet,ORPHA:300579,Group of disorders,[Category],Staphylococcal toxemia,,,,,,,,,,, +GARD:2124,Legacy,GARD,,,,,,,,,,,,Engelhard Yatziv syndrome,TRUE,FALSE,Active +GARD:21240,Active,Orphanet,ORPHA:300755,Group of disorders,[Category],Laminopathy with striated muscle involvement,,,,,,,,,,, +GARD:21241,Active,Orphanet,ORPHA:300758,Group of disorders,[Category],Laminopathy with peripheral neuropathy,,,,,,,,,,, +GARD:21242,Active,Orphanet,ORPHA:300763,Group of disorders,[Category],Laminopathy with lipodystrophy,,,,,,,,,,, +GARD:21243,Active,Orphanet,ORPHA:300766,Group of disorders,[Category],Laminopathy with premature aging,,,,,,,,,,, +GARD:21244,Active,Orphanet,ORPHA:300842,Group of disorders,[Category],Indolent B-cell non-Hodgkin lymphoma,[Indolent B-cell NHL],,,,,,,,,, +GARD:21245,Active,Orphanet,ORPHA:300846,Group of disorders,[Category],Aggressive B-cell non-Hodgkin lymphoma,[Aggressive B-cell NHL],,,,,,,,,, +GARD:21246,Active,Orphanet,ORPHA:300849,Disorder,[Disease],Diffuse large B-cell lymphoma of the central nervous system,[DLBCL of the CNS],,,,,,,,,, +GARD:21247,Active,Orphanet,ORPHA:300865,Disorder,[Disease],Primary cutaneous anaplastic large cell lymphoma,"[Primary C-ALCL, Regressive atypical histiocytosis]",Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features.,,,,,,,,, +GARD:21248,Active,Orphanet,ORPHA:300869,Disorder,[Disease],Splenic diffuse red pulp small B-cell lymphoma,"[SDRPL, Splenic diffuse red pulp lymphoma]","Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.",,,,,,,,, +GARD:21249,Active,Orphanet,ORPHA:300878,Disorder,[Disease],Hairy cell leukemia variant,"[HCL-v, Leukemic reticuloendotheliosis variant, Prolymphocytic variant of HCL, Prolymphocytic variant of hairy cell leukemia]","A rare, malignant splenic B-cell lymphoma/leukemia characterized by circulating abnormal lymphocytes with intermediate morphology between prolymphocytes and hairy cells with positive expression of CD11c and negative expression of CD25, CD123 and the BRAFV600E mutation. Manifestations include splenomegaly, elevated white blood cell (WBC) count, hyper-cellular bone marrow and anemia/thrombocytopenia, but no monocytopenia.",,,,,,,,, +GARD:2125,Active,Orphanet,ORPHA:99849,Disorder,[Disease],Glycogen storage disease due to muscle beta-enolase deficiency,"[GSD due to muscle beta-enolase deficiency, GSDXIII, Glycogenosis due to muscle beta-enolase deficiency, Glycogenosis type 13, Muscle enolase deficiency, Muscular enolase deficiency]",Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.,[612932],,,,,Glycogen storage disease type 13,TRUE,FALSE,Active +GARD:21250,Active,Orphanet,ORPHA:300888,Disorder,[Disease],Diffuse large B-cell lymphoma with chronic inflammation,[DLBCL with chronic inflammation],"Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.",,,,,,,,, +GARD:21251,Active,Orphanet,ORPHA:300895,Subtype of disorder,[Histopathological subtype],ALK-positive anaplastic large cell lymphoma,"[ALK+ ALCL, ALK+ anaplastic large cell lymphoma]","A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).",,,,,,,,, +GARD:21252,Active,Orphanet,ORPHA:300903,Subtype of disorder,[Histopathological subtype],ALK-negative anaplastic large cell lymphoma,"[ALK- ALCL, ALK- anaplastic large cell lymphoma]","A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).",,,,,,,,, +GARD:21253,Active,Orphanet,ORPHA:304055,Group of disorders,[Category],Pituitary tumor,,,,,,,,,,, +GARD:21254,Active,Orphanet,ORPHA:306516,Disorder,[Disease],Primary hypomagnesemia with hypercalciuria and nephrocalcinosis,"[FHHNC, Michellis-Castrillo syndrome]","Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms).",,,,,,,,, +GARD:21255,Active,Orphanet,ORPHA:306553,Disorder,[Disease],Myospherulosis,"[Spherulocytosis, Subcutaneous spherulocystic disease]","A rare maxillo-facial surgical disease characterized by an inflammatory, granulomatous lesion, most commonly of iatrogenic origin due to interaction of extravasated erythrocytes with exogenous lipids, in particular petrolatum-based antibiotic ointment used after surgical procedures. Most frequent locations are the paranasal sinuses and jaws, although the lesion can occur in any part of the body. It is typically found incidentally as an asymptomatic soft tissue swelling.",,,,,,,,, +GARD:21256,Active,Orphanet,ORPHA:306633,Group of disorders,[Category],Rare tumor of gallbladder and extrahepatic biliary tract,[Rare tumor of gallbladder and EBT],,,,,,,,,, +GARD:21257,Active,Orphanet,ORPHA:306636,Group of disorders,[Category],Rare tumor of liver and intrahepatic biliary tract,[Rare tumor of liver and IBT],,,,,,,,,, +GARD:21258,Active,Orphanet,ORPHA:306640,Group of disorders,[Category],Rare intoxication due to medical products,,,,,,,,,,, +GARD:21259,Active,Orphanet,ORPHA:306644,Disorder,[Particular clinical situation in a disease or syndrome],Complication after organ transplantation,,,,,,,,,,, +GARD:2126,Legacy,GARD,,,,,,,,,,,,Enolase deficiency type 1,TRUE,FALSE,Retired +GARD:21260,Active,Orphanet,ORPHA:306648,Group of disorders,[Category],Non-infectious anterior uveitis,[Non-infectious iridocyclitis],,,,,,,,,, +GARD:21261,Active,Orphanet,ORPHA:306666,Group of disorders,[Category],Rare parkinsonian syndrome due to neurodegenerative disease,,,,,,,,,,, +GARD:21262,Active,Orphanet,ORPHA:306669,Disorder,[Disease],Hemiparkinsonism-hemiatrophy syndrome,[HP-HA syndrome],"Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated.",,,,,,,,, +GARD:21263,Active,Orphanet,ORPHA:306679,Group of disorders,[Category],Rare parkinsonian syndrome due to intoxication,,,,,,,,,,, +GARD:21264,Active,Orphanet,ORPHA:306682,Disorder,[Disease],Manganese poisoning,"[Manganese intoxication, Manganism]","A rare disorder due to toxic effects characterized by a progressive, permanent affliction of the extrapyramidal system with the globus pallidus and striatum as primary targets of neurotoxic effects. Symptoms include headache, insomnia, memory loss, emotional instability, hyperreflexia, dystonia, tremor, speech disturbances, and gait abnormalities. Individual factors like age, gender, genetics, and pre-existing medical conditions appear to have a profound impact on manganese toxicity.",,,,,,,,, +GARD:21265,Active,Orphanet,ORPHA:306686,Disorder,[Disease],Delayed encephalopathy due to carbon monoxide poisoning,[Delayed encephalopathy due to CO poisoning],"A rare neurologic disease characterized by delayed onset of encephalopathy typically within a few weeks after acute carbon monoxide poisoning. The most common symptoms are cognitive impairment, personality changes, and movement disorder including parkinsonism, among others. Prognosis is good with a high rate of spontaneous recovery within a year.",,,,,,,,, +GARD:21266,Active,Orphanet,ORPHA:306692,Disorder,[Disease],Cyanide-induced parkinsonism-dystonia,,"A rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.",,,,,,,,, +GARD:21267,Active,Orphanet,ORPHA:306695,Group of disorders,[Category],Miscellaneous movement disorder due to neurodegenerative disease,,,,,,,,,,, +GARD:21268,Active,Orphanet,ORPHA:306708,Group of disorders,[Category],Frontotemporal neurodegeneration with movement disorder,,,,,,,,,,, +GARD:21269,Active,Orphanet,ORPHA:306712,Group of disorders,[Category],Rare tremor disorder,,,,,,,,,,, +GARD:2127,Legacy,GARD,,,,,,,,,,,,Enolase deficiency type 2,TRUE,FALSE,Retired +GARD:21270,Active,Orphanet,ORPHA:306715,Group of disorders,[Category],Rare choreic movement disorder,,,,,,,,,,, +GARD:21271,Active,Orphanet,ORPHA:306719,Group of disorders,[Category],Neurodegenerative disease with chorea,,,,,,,,,,, +GARD:21272,Active,Orphanet,ORPHA:306727,Group of disorders,[Category],Postinfectious autoimmune disease with chorea,,,,,,,,,,, +GARD:21273,Active,Orphanet,ORPHA:306741,Disorder,[Disease],Hemidystonia-hemiatrophy syndrome,[HD-HA syndrome],"Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.",,,,,,,,, +GARD:21274,Active,Orphanet,ORPHA:306747,Group of disorders,[Category],Rare myoclonus,,,,,,,,,,, +GARD:21275,Active,Orphanet,ORPHA:306750,Group of disorders,[Category],Primary myoclonus,,,,,,,,,,, +GARD:21276,Active,Orphanet,ORPHA:306753,Group of disorders,[Category],Rare disease with myoclonus as a major feature,,,,,,,,,,, +GARD:21277,Active,Orphanet,ORPHA:306756,Group of disorders,[Category],Epilepsy and/or ataxia with myoclonus as a major feature,,,,,,,,,,, +GARD:21278,Active,Orphanet,ORPHA:306759,Group of disorders,[Category],Non progressive epilepsy and/or ataxia with myoclonus as a major feature,,,,,,,,,,, +GARD:21279,Active,Orphanet,ORPHA:306765,Group of disorders,[Category],Motor stereotypies,,,,,,,,,,, +GARD:2128,Legacy,GARD,,,,,,,,,,,,Enolase deficiency type 3,TRUE,FALSE,Retired +GARD:21280,Active,Orphanet,ORPHA:306768,Group of disorders,[Category],Rare paroxysmal movement disorder,,,,,,,,,,, +GARD:21281,Active,Orphanet,ORPHA:306773,Group of disorders,[Clinical group],Hyperekplexia,,,,,,,,,,, +GARD:21282,Active,Orphanet,ORPHA:306776,Disorder,[Disease],Sporadic hyperekplexia,,"A rare neurologic disease characterized by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia.",,,,,,,,, +GARD:21283,Active,Orphanet,ORPHA:307052,Group of disorders,[Category],Rare genetic parkinsonian disorder,[Rare genetic hypokinetic movement disorder],,,,,,,,,, +GARD:21284,Active,Orphanet,ORPHA:307055,Group of disorders,[Category],Rare parkinsonian syndrome due to genetic neurodegenerative disease,,,,,,,,,,, +GARD:21285,Active,Orphanet,ORPHA:307058,Group of disorders,[Category],Miscellaneous movement disorder due to genetic neurodegenerative disease,,,,,,,,,,, +GARD:21286,Active,Orphanet,ORPHA:307061,Group of disorders,[Category],Rare genetic tremor disorder,,,,,,,,,,, +GARD:21287,Active,Orphanet,ORPHA:307064,Group of disorders,[Category],Rare genetic myoclonus,,,,,,,,,,, +GARD:21288,Active,Orphanet,ORPHA:307067,Group of disorders,[Category],Rare genetic disease with myoclonus as a major feature,,,,,,,,,,, +GARD:21289,Active,Orphanet,ORPHA:307141,Group of disorders,[Category],Diffuse palmoplantar keratoderma,"[Diffuse PPK, Diffuse keratosis palmoplantaris, Diffuse palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:2129,Legacy,GARD,,,,,,,,,,,,Enolase deficiency type 4,TRUE,FALSE,Retired +GARD:21290,Active,Orphanet,ORPHA:307148,Group of disorders,[Clinical group],Isolated diffuse palmoplantar keratoderma,"[Isolated diffuse PPK, Isolated diffuse keratosis palmoplantaris, Isolated diffuse palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:21291,Active,Orphanet,ORPHA:307711,Group of disorders,[Category],Disease with diffuse palmoplantar keratoderma as a major feature,[Disease with diffuse palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21292,Active,Orphanet,ORPHA:307773,Group of disorders,[Clinical group],Autosomal dominant diffuse mutilating palmoplantar keratoderma,[Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis],,,,,,,,,, +GARD:21293,Active,Orphanet,ORPHA:307804,Group of disorders,[Category],Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature,[Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21294,Active,Orphanet,ORPHA:307837,Group of disorders,[Category],Focal palmoplantar keratoderma,"[Focal PPK, Focal keratosis palmoplantaris, Focal palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:21295,Active,Orphanet,ORPHA:307846,Group of disorders,[Clinical group],Isolated focal palmoplantar keratoderma,"[Isolated focal PPK, Isolated focal keratosis palmoplantaris, Isolated focal palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:21296,Active,Orphanet,ORPHA:307871,Group of disorders,[Category],Disease with focal palmoplantar keratoderma as a major feature,[Disease with focal palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21297,Active,Orphanet,ORPHA:307967,Group of disorders,[Category],Punctate palmoplantar keratoderma,"[Punctate PPK, Punctate keratosis palmoplantaris, Punctate palmoplantar hyperkeratosis]",,,,,,,,,, +GARD:21298,Active,Orphanet,ORPHA:307995,Group of disorders,[Clinical group],Marginal papular palmoplantar keratoderma,[Marginal papular palmoplantar hyperkeratosis],,,,,,,,,, +GARD:21299,Active,Orphanet,ORPHA:308013,Disorder,[Disease],Focal acral hyperkeratosis,"[PPKP3 without elastoidosis, PPPK3 without elastoidosis, Punctate palmoplantar hyperkeratosis type 3 without elastoidosis, Punctate palmoplantar keratoderma type 3 without elastoidosis]","A rare epidermal disease characterized by multiple, usually asymptomatic, yellowish to flesh colored hyperkeratotic papules and plaques on the palms and soles, with a preference for the palmar and plantar margins. Histological examination shows pronounced orthohyperkeratosis overlying a crateriform depression in the epidermis, with hypergranulosis and mild acanthosis, while elastorrhexis is absent. The lesions appear in the second or third decade of life and gradually increase in number over several years. The condition may be sporadic or familial.",,,,,,,,, +GARD:213,Active,Orphanet,ORPHA:1834,Disorder,[Malformation syndrome],Axial mesodermal dysplasia spectrum,"[Blastogenesis defect, Russell-Weaver-Bull syndrome]","Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.",,,,,,Axial mesodermal dysplasia spectrum,TRUE,FALSE,Active +GARD:2130,Active,Orphanet,ORPHA:292,Disorder,[Disease],Congenital enterovirus infection,"[Antenatal enterovirus infection, Mother-to-child transmission of enterovirus infection]","An infectious embryofetopathy including coxsackie viruses and ECHO viruses that have been reported to cause spontaneous abortion, stillbirth, acute systemic illness in the newborn, and possibly fetal malformations.",,,,,,Enterovirus antenatal infection,TRUE,FALSE,Active +GARD:21300,Active,Orphanet,ORPHA:308023,Group of disorders,[Category],Disease with punctate palmoplantar keratoderma as a major feature,[Disease with punctate palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21301,Active,Orphanet,ORPHA:308031,Group of disorders,[Category],Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature,[Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21302,Active,Orphanet,ORPHA:308041,Group of disorders,[Category],Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature,[Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature],,,,,,,,,, +GARD:21303,Active,Orphanet,ORPHA:308407,Group of disorders,[Category],Disorder of beta and omega amino acid metabolism,,,,,,,,,,, +GARD:21304,Active,Orphanet,ORPHA:308448,Group of disorders,[Clinical group],Aminoacylase deficiency,,,,,,,,,,, +GARD:21305,Active,Orphanet,ORPHA:308451,Group of disorders,[Category],Disorder of neutral amino acid transport,,,,,,,,,,, +GARD:21306,Active,Orphanet,ORPHA:308459,Group of disorders,[Category],Disorder of glycolysis,,,,,,,,,,, +GARD:21307,Active,Orphanet,ORPHA:308463,Group of disorders,[Category],Disorder of fructose metabolism,,,,,,,,,,, +GARD:21308,Active,Orphanet,ORPHA:308467,Group of disorders,[Category],Disorder of galactose metabolism,,,,,,,,,,, +GARD:21309,Active,Orphanet,ORPHA:308520,Group of disorders,[Clinical group],Glycogen storage disease due to glycogen synthase deficiency,"[GSD due to glycogen synthase deficiency, Glycogenosis due to glycogen synthase deficiency]",,,,,,,,,, +GARD:2131,Legacy,GARD,,,,,,,,,,,,Envenomization by bothrops lanceolatus,TRUE,FALSE,Retired +GARD:21310,Active,Orphanet,ORPHA:308552,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to acid maltase deficiency, infantile onset","[Alpha-1,4-glucosidase acid deficiency, infantile onset, GSD due to acid maltase deficiency, infantile onset, GSD type 2, infantile onset, GSD type II, infantile onset, Glycogen storage disease type 2, infantile onset, Glycogen storage disease type II, infantile onset, Glycogenosis due to acid maltase deficiency, infantile onset, Glycogenosis type 2, infantile onset, Glycogenosis type II, infantile onset, Pompe disease, infantile onset]","Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.",,,,,,,,, +GARD:21311,Active,Orphanet,ORPHA:308993,Group of disorders,[Clinical group],Glycerol kinase deficiency,,,,,,,,,,, +GARD:21312,Active,Orphanet,ORPHA:308998,Group of disorders,[Category],Disorder of glyoxylate metabolism,,,,,,,,,,, +GARD:21313,Active,Orphanet,ORPHA:309001,Group of disorders,[Category],Disorder of carbohydrate absorption and transport,,,,,,,,,,, +GARD:21314,Active,Orphanet,ORPHA:309005,Group of disorders,[Category],Disorder of lipid metabolism,,,,,,,,,,, +GARD:21315,Active,Orphanet,ORPHA:309025,Disorder,[Disease],Mevalonate kinase deficiency,[MKD],A rare inborn error of metabolism characterized by a spectrum of presentation ranging from hyperimmunoglobulinemia D with periodic fever (HIDS) to mevalonic aciduria.,,,,,,,,, +GARD:21316,Active,Orphanet,ORPHA:309028,Group of disorders,[Category],Disorder of lipid absorption and transport,,,,,,,,,,, +GARD:21317,Active,Orphanet,ORPHA:309115,Group of disorders,[Category],Disorder of fatty acid oxidation and ketogenesis,,,,,,,,,,, +GARD:21318,Active,Orphanet,ORPHA:309120,Group of disorders,[Clinical group],Acyl-CoA dehydrogenase deficiency,,,,,,,,,,, +GARD:21319,Active,Orphanet,ORPHA:309127,Group of disorders,[Clinical group],3-hydroxyacyl-CoA dehydrogenase deficiency,,,,,,,,,,, +GARD:21320,Active,Orphanet,ORPHA:309130,Group of disorders,[Category],Disorder of carnitine cycle and carnitine transport,,,,,,,,,,, +GARD:21321,Active,Orphanet,ORPHA:309133,Group of disorders,[Category],Metabolic disease due to other fatty acid oxidation disorder,,,,,,,,,,, +GARD:21322,Active,Orphanet,ORPHA:309136,Group of disorders,[Category],Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes,,,,,,,,,,, +GARD:21323,Active,Orphanet,ORPHA:309152,Group of disorders,[Clinical group],GM2 gangliosidosis,,,,,,,,,,, +GARD:21324,Active,Orphanet,ORPHA:309178,Subtype of disorder,[Clinical subtype],"Tay-Sachs disease, B variant, infantile form","[GM2 gangliosidosis, B variant, infantile form, Hexosaminidase A deficiency, infantile form]",,,,,,,,,, +GARD:21325,Active,Orphanet,ORPHA:309185,Subtype of disorder,[Clinical subtype],"Tay-Sachs disease, B variant, juvenile form","[GM2 gangliosidosis, B variant, juvenile form, Hexosaminidase A deficiency, juvenile form]",,,,,,,,,, +GARD:21326,Active,Orphanet,ORPHA:309192,Subtype of disorder,[Clinical subtype],"Tay-Sachs disease, B variant, adult form","[GM2 gangliosidosis, B variant, adult form, Hexosaminidase A deficiency, adult form]",,,,,,,,,, +GARD:21327,Active,Orphanet,ORPHA:309239,Subtype of disorder,[Clinical subtype],"Tay-Sachs disease, B1 variant","[GM2 gangliosidosis, B1 variant, Hexosaminidase A deficiency, B1 variant]",,,,,,,,,, +GARD:21328,Active,Orphanet,ORPHA:309256,Subtype of disorder,[Clinical subtype],"Metachromatic leukodystrophy, late infantile form","[Arylsulfatase A deficiency, late infantile form, MLD, late infantile form]","A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life.",,,,,,,,, +GARD:21329,Active,Orphanet,ORPHA:309263,Subtype of disorder,[Clinical subtype],"Metachromatic leukodystrophy, juvenile form","[Arylsulfatase A deficiency, juvenile form, MLD, juvenile form]","A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, spasticity, seizures, paralysis, dementia, and loss of speech, vision, and hearing, eventually resulting in complete loss of motor and cognitive skills, and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life.",,,,,,,,, +GARD:21330,Active,Orphanet,ORPHA:309271,Subtype of disorder,[Clinical subtype],"Metachromatic leukodystrophy, adult form","[Arylsulfatase A deficiency, adult form, MLD, adult form]","A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset.",,,,,,,,, +GARD:21331,Active,Orphanet,ORPHA:309294,Group of disorders,[Clinical group],Sialidosis,,"Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I (see this term), the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.",,,,,,,,, +GARD:21332,Active,Orphanet,ORPHA:309319,Group of disorders,[Category],Disorder of sialic acid metabolism,,,,,,,,,,, +GARD:21333,Active,Orphanet,ORPHA:309337,Group of disorders,[Category],Lysosomal glycogen storage disease,,,,,,,,,,, +GARD:21334,Active,Orphanet,ORPHA:309340,Group of disorders,[Category],Disorder of lysosomal-related organelles,,,,,,,,,,, +GARD:21335,Active,Orphanet,ORPHA:309347,Group of disorders,[Category],Disorder of protein N-glycosylation,,,,,,,,,,, +GARD:21336,Active,Orphanet,ORPHA:309447,Group of disorders,[Category],Disorder of protein O-glycosylation,,,,,,,,,,, +GARD:21337,Active,Orphanet,ORPHA:309450,Group of disorders,[Category],Disorder of O-xylosylglycan synthesis,,,,,,,,,,, +GARD:21338,Active,Orphanet,ORPHA:309458,Group of disorders,[Category],Disorder of O-N-acetylgalactosaminylglycan synthesis,,,,,,,,,,, +GARD:21339,Active,Orphanet,ORPHA:309463,Group of disorders,[Category],Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis,,,,,,,,,,, +GARD:2134,Legacy,GARD,,,,,,,,,,,,Idiopathic eosinophilic chronic pneumopathy (IECP),TRUE,FALSE,Retired +GARD:21340,Active,Orphanet,ORPHA:309469,Group of disorders,[Category],Disorder of O-mannosylglycan synthesis,,,,,,,,,,, +GARD:21341,Active,Orphanet,ORPHA:309505,Group of disorders,[Category],Disorder of fucoglycosan synthesis,,,,,,,,,,, +GARD:21342,Active,Orphanet,ORPHA:309515,Group of disorders,[Category],Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation,[Disorder of glycosphingolipid and GPI-anchored proteins glycosylation],,,,,,,,,, +GARD:21343,Active,Orphanet,ORPHA:309526,Group of disorders,[Category],Disorder of multiple glycosylation,,,,,,,,,,, +GARD:21344,Active,Orphanet,ORPHA:309568,Group of disorders,[Category],Defect in conserved oligomeric Golgi complex,[Defect in COG complex],,,,,,,,,, +GARD:21345,Active,Orphanet,ORPHA:309778,Group of disorders,[Category],Defect in V-ATPase,,,,,,,,,,, +GARD:21346,Active,Orphanet,ORPHA:309813,Group of disorders,[Category],Disorder of porphyrin and heme metabolism,,,,,,,,,,, +GARD:21347,Active,Orphanet,ORPHA:309816,Group of disorders,[Category],Disorder of bilirubin metabolism and excretion,,,,,,,,,,, +GARD:21348,Active,Orphanet,ORPHA:309819,Group of disorders,[Category],Disorder of pterin metabolism,,,,,,,,,,, +GARD:21349,Active,Orphanet,ORPHA:309824,Group of disorders,[Category],Disorder of metabolite absorption and transport,,,,,,,,,,, +GARD:21350,Active,Orphanet,ORPHA:309827,Group of disorders,[Category],Disorder of vitamin and non-protein cofactor absorption and transport,,,,,,,,,,, +GARD:21351,Active,Orphanet,ORPHA:309830,Group of disorders,[Category],Disorder of catecholamine synthesis,,,,,,,,,,, +GARD:21352,Active,Orphanet,ORPHA:309833,Group of disorders,[Category],Disorder of other vitamins and cofactors metabolism and transport,,,,,,,,,,, +GARD:21353,Active,Orphanet,ORPHA:309836,Group of disorders,[Category],Disorder of mineral absorption and transport,,,,,,,,,,, +GARD:21354,Active,Orphanet,ORPHA:309839,Group of disorders,[Category],Disorder of copper metabolism,,,,,,,,,,, +GARD:21355,Active,Orphanet,ORPHA:309842,Group of disorders,[Category],Disorder of iron metabolism and transport,,,,,,,,,,, +GARD:21356,Active,Orphanet,ORPHA:309845,Group of disorders,[Category],Disorder of zinc metabolism and transport,,,,,,,,,,, +GARD:21357,Active,Orphanet,ORPHA:309848,Group of disorders,[Category],Disorder of magnesium transport,,,,,,,,,,, +GARD:21358,Active,Orphanet,ORPHA:309851,Group of disorders,[Category],Disorder of manganese transport,,,,,,,,,,, +GARD:21359,Active,Orphanet,ORPHA:310050,Group of disorders,[Category],Acquired immunodeficiency,,,,,,,,,,, +GARD:2136,Legacy,GARD,,,,,,,,,,,,Epidermal nevus vitamin D resistant rickets,TRUE,FALSE,Active +GARD:21360,Active,Orphanet,ORPHA:313781,Disorder,[Malformation syndrome],20p13 microdeletion syndrome,"[20p subtelomeric deletion syndrome, Del(20)(p13), Monosomy 20p13]","20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.",,,,,,,,, +GARD:21361,Active,Orphanet,ORPHA:313906,Disorder,[Morphological anomaly],Congenital pancreatic cyst,"[Neonatal congenital pancreatic cyst, True congenital pancreatic cyst]","A rare pancreatic disease characterized by a most commonly single, unilocular, thin-walled cystic lesion which may be located anywhere within the pancreas (but is more frequently found in the body and tail) and does not communicate with the pancreatic ductal system. Patients may be asymptomatic or present with signs and symptoms of gastrointestinal or biliary obstruction, or pancreatitis. The condition can be isolated or occur in association with other anomalies (such as von Hippel-Lindau disease or polycystic kidney disease).",,,,,,,,, +GARD:21362,Active,Orphanet,ORPHA:313920,Disorder,[Disease],Epstein-Barr virus-associated gastric carcinoma,"[EBV-associated gastric carcinoma, EBVaGC]","A rare form of gastric carcinoma characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.",,,,,,,,, +GARD:21363,Active,Orphanet,ORPHA:313947,Disorder,[Malformation syndrome],2q23.1 microduplication syndrome,"[Dup(2)(q23.1), Trisomy 2q23.1]","2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.",,,,,,,,, +GARD:21364,Active,Orphanet,ORPHA:314002,Disorder,[Malformation syndrome],Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome,[Dinno syndrome],"Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.",,,,,,,,, +GARD:21365,Active,Orphanet,ORPHA:314017,Disorder,[Disease],Idiopathic linear interstitial keratitis,,"Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.",,,,,,,,, +GARD:21366,Active,Orphanet,ORPHA:314029,Disorder,[Disease],High bone mass osteogenesis imperfecta,[High bone mass OI],"High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.",,,,,,,,, +GARD:21367,Active,Orphanet,ORPHA:314034,Disorder,[Malformation syndrome],7p22.1 microduplication syndrome,"[Dup(7)(p22.1), Trisomy 7p22.1]","7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.",,,,,,,,, +GARD:21368,Active,Orphanet,ORPHA:314041,Disorder,[Malformation syndrome],Marfanoid habitus-inguinal hernia-advanced bone age syndrome,,"Marfanoid habitus-inguinal hernia-advanced bone age syndrome is a very rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).",,,,,,,,, +GARD:21369,Active,Orphanet,ORPHA:314389,Disorder,[Malformation syndrome],Xq12-q13.3 duplication syndrome,[Dup(X)(q12-q13.3)],"Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.",,,,,,,,, +GARD:2137,Active,Orphanet,ORPHA:257,Disorder,[Disease],Epidermolysis bullosa simplex with muscular dystrophy,"[EBS with muscular dystrophy, EBS-MD, Limb-girdle muscular dystrophy with epidermolysis bullosa simplex]",A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.,[226670],,,,,Epidermolysa bullosa simplex with muscular dystrophy,TRUE,FALSE,Active +GARD:21370,Active,Orphanet,ORPHA:314425,Group of disorders,[Category],Rare odontogenic tumor,,,,,,,,,,, +GARD:21371,Active,Orphanet,ORPHA:314432,Disorder,[Malformation syndrome],Spigelian hernia-cryptorchidism syndrome,,"Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.",,,,,,,,, +GARD:21372,Active,Orphanet,ORPHA:314451,Disorder,[Clinical syndrome],Meigs syndrome,[Demons-Meigs syndrome],"Meigs syndrome is a rare neoplastic disease characterized by the clinical triad of benign ovarian tumor (typically, ovarian fibroma or fibroma-like tumor), hydrothorax and ascites, which resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.",,,,,,,,, +GARD:21373,Active,Orphanet,ORPHA:314459,Disorder,[Clinical syndrome],Pseudo-Meigs syndrome,[Pseudo-Demons-Meigs syndrome],"Pseudo-Meigs syndrome is a rare neoplastic disease characterized by the presence of a benign or malignant, pelvic or abdominal tumor (other than ovarian fibroma or fibroma-like and localized outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.",,,,,,,,, +GARD:21374,Active,Orphanet,ORPHA:314466,Disorder,[Clinical syndrome],Atypical Meigs syndrome,"[Atypical Demons-Meigs syndrome, Incomplete Meigs syndrome]","A rare benign ovarian tumor characterized by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumor.",,,,,,,,, +GARD:21375,Active,Orphanet,ORPHA:314473,Disorder,[Disease],Ovarian fibroma,,"A rare benign ovarian tumor of sex cord / stromal origin characterized by an abdominal mass which may present with abdominal pain, distension, or menorrhagia, among others, or may also be asymptomatic. Association with ascites and hydrothorax is known as Meigs syndrome. The tumor can be solid and/or cystic in nature. Histologically it features bundles of spindle cells forming variable amounts of collagen, without cellular atypia or atypical mitoses.",,,,,,,,, +GARD:21376,Active,Orphanet,ORPHA:314478,Disorder,[Disease],Ovarian fibrothecoma,,"Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).",,,,,,,,, +GARD:21377,Active,Orphanet,ORPHA:314566,Disorder,[Disease],Primary progressive apraxia of speech,[PPAOS],"Primary progressive apraxia of speech is a rare neurodegenerative disease characterized by impaired planning or programming of the movements for speech, leading to phonetically and prosodically abnormal speech, in absence, at onset, of any other neurological features (such as aphasia, memory loss, pyramidal signs). Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time.",,,,,,,,, +GARD:21378,Active,Orphanet,ORPHA:314572,Disorder,[Disease],Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome,,"A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.",,,,,,,,, +GARD:21379,Active,Orphanet,ORPHA:314575,Disorder,[Malformation syndrome],Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome,,"Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.",,,,,,,,, +GARD:21380,Active,Orphanet,ORPHA:314613,Disorder,[Particular clinical situation in a disease or syndrome],Growing teratoma syndrome,,,,,,,,,,, +GARD:21381,Active,Orphanet,ORPHA:314621,Disorder,[Morphological anomaly],Duplication of the pituitary gland,"[DPG-plus syndrome, Duplication of the pituitary gland-plus syndrome, Hypophyseal duplication]","Duplication of the pituitary gland is a rare midline cerebral malformation disorder characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).",,,,,,,,, +GARD:21382,Active,Orphanet,ORPHA:314652,Disorder,[Disease],Variant ABeta2M amyloidosis,[Autosomal dominant beta2-microglobulinic amyloidosis],"A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.",,,,,,,,, +GARD:21383,Active,Orphanet,ORPHA:314655,Subtype of disorder,[Etiological subtype],Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,"[5q31.3 microdeletion syndrome, Del(5)(q31.3), Monosomy 5q31.3]",,,,,,,,,, +GARD:21384,Active,Orphanet,ORPHA:314662,Disorder,[Disease],Segmental progressive overgrowth syndrome with fibroadipose hyperplasia,,"A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.",,,,,,,,, +GARD:21385,Active,Orphanet,ORPHA:314684,Disorder,[Disease],Primary bone lymphoma,,"Primary bone lymphoma is a rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.",,,,,,,,, +GARD:21386,Active,Orphanet,ORPHA:314697,Subtype of disorder,[Etiological subtype],Acquired porencephaly,,,,,,,,,,, +GARD:21387,Active,Orphanet,ORPHA:314709,Subtype of disorder,[Clinical subtype],Primary localized amyloidosis,[Localized AL amyloidosis],,,,,,,,,, +GARD:21388,Active,Orphanet,ORPHA:314749,Group of disorders,[Category],Rare disease with Cushing syndrome as a major feature,,,,,,,,,,, +GARD:21389,Active,Orphanet,ORPHA:314753,Group of disorders,[Clinical group],Functioning pituitary adenoma,"[Endocrine active pituitary adenoma, Secreting pituitary adenoma]",,,,,,,,,, +GARD:2139,Active,Orphanet,ORPHA:231568,Disorder,[Disease],Autosomal dominant generalized dystrophic epidermolysis bullosa,[Generalized DDEB],"A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.",[131750],,,,,Dominant dystrophic epidermolysis bullosa,TRUE,FALSE,Active +GARD:21390,Active,Orphanet,ORPHA:314759,Group of disorders,[Category],Mixed functioning pituitary adenoma,[Mixed secreting pituitary adenoma],,,,,,,,,, +GARD:21391,Active,Orphanet,ORPHA:314769,Disorder,[Disease],Somatomammotropinoma,"[GH and PRL cosecreting pituitary adenoma, Growth hormone and prolactin cosecreting pituitary adenoma, Somatolactotropinoma, Somatoprolactinoma]","Somatomammotropinoma is a rare, mixed, functioning pituitary adenoma characterized by the cosecretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia.",,,,,,,,, +GARD:21392,Active,Orphanet,ORPHA:314786,Subtype of disorder,[Histopathological subtype],Silent pituitary adenoma,,,,,,,,,,, +GARD:21393,Active,Orphanet,ORPHA:314790,Subtype of disorder,[Histopathological subtype],Null pituitary adenoma,,,,,,,,,,, +GARD:21394,Active,Orphanet,ORPHA:314889,Subtype of disorder,[Clinical subtype],Autosomal dominant proximal renal tubular acidosis,[AD pRTA],A rare autosomal dominant form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.,,,,,,,,, +GARD:21395,Active,Orphanet,ORPHA:314950,Disorder,[Disease],Primary hypereosinophilic syndrome,"[Clonal hypereosinophilic syndrome, HES-M, HES-N, Neoplastic hypereosinophilic syndrome, Primary HES]","A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by clonal eosinophils derived from neoplastic stem cells in the absence of any secondary cause of eosinophilia and persisting for at least six months. The condition is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations, among others.",,,,,,,,, +GARD:21396,Active,Orphanet,ORPHA:314962,Disorder,[Disease],Secondary hypereosinophilic syndrome,"[HES-R, Reactive hypereosinophilic syndrome, Secondary HES]","A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by reactive/non-clonal eosinophils secondary to an underlying medical condition and persisting for at least six months. The disorder can derive from non-neoplastic conditions (such as chronic infections and infestations, allergic reactions, intoxications, or autoimmune and chronic inflammatory disorders) or from neoplasms including non-myeloid malignancies, among others. It is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and most commonly include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations.",,,,,,,,, +GARD:21397,Active,Orphanet,ORPHA:314970,Subtype of disorder,[Clinical subtype],Lymphocytic hypereosinophilic syndrome,"[HES-L, Lymphocytic variant HES, Lymphoid HES]",,,,,,,,,, +GARD:21398,Active,Orphanet,ORPHA:315306,Subtype of disorder,[Clinical subtype],"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form","[Classic 21-OHD CAH, salt wasting form]","A form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females and normal genitalia in males in association with glucocorticoid insufficiency with salt-wasting due to aldosterone deficiency, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height.",,,,,,,,, +GARD:21399,Active,Orphanet,ORPHA:315311,Subtype of disorder,[Clinical subtype],"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form","[Classic 21-OHD CAH, simple virilizing form]","A form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females, and normal genitalia in males in association with glucocorticoid insufficiency with absence of salt-wasting, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. Females have a normal uterus and various degrees of abnormal vaginal development.",,,,,,,,, +GARD:21400,Active,Orphanet,ORPHA:315350,Group of disorders,[Category],Autoimmune disease with skin involvement,,,,,,,,,,, +GARD:21401,Active,Orphanet,ORPHA:316226,Group of disorders,[Clinical group],Spastic ataxia,[SPAX],,,,,,,,,, +GARD:21402,Active,Orphanet,ORPHA:316235,Group of disorders,[Category],Autosomal dominant spastic ataxia,[AD-SPAX],,,,,,,,,, +GARD:21403,Active,Orphanet,ORPHA:316240,Group of disorders,[Category],Autosomal recessive spastic ataxia,[AR-SPAX],,,,,,,,,, +GARD:21404,Active,Orphanet,ORPHA:316244,Group of disorders,[Category],Partial deletion of the short arm of chromosome 12,"[Partial deletion of chromosome 12p, Partial monosomy of chromosome 12p, Partial monosomy of the short arm of chromosome 12]",,,,,,,,,, +GARD:21405,Active,Orphanet,ORPHA:317416,Group of disorders,[Clinical group],T-B+ severe combined immunodeficiency,[T-B+ SCID],"T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.",,,,,,,,, +GARD:21406,Active,Orphanet,ORPHA:317419,Group of disorders,[Clinical group],T-B- severe combined immunodeficiency,[T-B- SCID],"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.",,,,,,,,, +GARD:21407,Active,Orphanet,ORPHA:319192,Disorder,[Morphological anomaly],Diencephalic-mesencephalic junction dysplasia,,"Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.",,,,,,,,, +GARD:21408,Active,Orphanet,ORPHA:319195,Disorder,[Disease],Chondroectodermal dysplasia with night blindness,,"Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.",,,,,,,,, +GARD:21409,Active,Orphanet,ORPHA:319205,Subtype of disorder,[Etiological subtype],Bilateral massive adrenal hemorrhage,"[BMAH, Bilateral adrenal hemorrhage]",,,,,,,,,, +GARD:2141,Active,Orphanet,ORPHA:79396,Disorder,[Disease],"Autosomal dominant generalized epidermolysis bullosa simplex, severe form","[Autosomal dominant generalized EBS, severe form, Epidermolysis bullosa simplex herpetiformis, Epidermolysis bullosa simplex, Dowling-Meara type]","Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.",[131760],,,,,"Epidermolysis bullosa simplex, Dowling-Meara type",TRUE,FALSE,Active +GARD:21410,Active,Orphanet,ORPHA:319213,Disorder,[Disease],Lujo hemorrhagic fever,[Zambian hemorrhagic fever],"Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.",,,,,,,,, +GARD:21411,Active,Orphanet,ORPHA:319223,Disorder,[Disease],Argentine hemorrhagic fever,"[Argentinian hemorrhagic fever, Junin hemorrhagic fever]","A disorder that caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.",,,,,,,,, +GARD:21412,Active,Orphanet,ORPHA:319229,Disorder,[Disease],Bolivian hemorrhagic fever,[Machupo hemorrhagic fever],"Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.",,,,,,,,, +GARD:21413,Active,Orphanet,ORPHA:319234,Disorder,[Disease],Venezuelan hemorrhagic fever,[Guanarito hemorrhagic fever],"Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.",,,,,,,,, +GARD:21414,Active,Orphanet,ORPHA:319239,Disorder,[Disease],Brazilian hemorrhagic fever,[Sabia hemorrhagic fever],"Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.",,,,,,,,, +GARD:21415,Active,Orphanet,ORPHA:319244,Disorder,[Disease],Chapare hemorrhagic fever,,"Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.",,,,,,,,, +GARD:21416,Active,Orphanet,ORPHA:319251,Disorder,[Disease],Rift valley fever,,"Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.",,,,,,,,, +GARD:21417,Active,Orphanet,ORPHA:319287,Subtype of disorder,[Histopathological subtype],Multilocular cystic renal neoplasm of low malignant potential,"[MCRCC, Multilocular clear cell adenocarcinoma, Multilocular clear cell carcinoma, Multilocular clear cell renal cell adenocarcinoma, Multilocular clear cell renal cell carcinoma, Multilocular cystic renal cell adenocarcinoma, Multilocular cystic renal cell carcinoma]","Multilocular cystic renal neoplasm of low malignant potential is a rare subtype of clear cell renal cell carcinoma with distinct pathological features of cysts lined by occasionally flattened cuboidal clear cells and septa containing aggregates of epithelial cells with clear cytoplasm, and excellent prognosis. The tumor usually presents as an asymptomatic, unilateral, solitary lesion, macroscopically consisting of numerous, fluid-filled, septated cysts of variable size. Rarely, the symptoms typically associated with renal tumors (flank pain, hematuria, palpable mass) may be present.",,,,,,,,, +GARD:21418,Active,Orphanet,ORPHA:319322,Disorder,[Disease],Mucinous tubular and spindle cell renal carcinoma,,"Mucinous tubular and spindle cell renal carcinoma is a rare subtype of renal cell carcinoma characterized, histologically, by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and, macroscopically, by a solid, generally well-circumscribed, partially encapsulated tumor of variable size, with a homogenously colored, bulging cut surface, occassionally containing areas of hemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, adbominal mass and/or hematuria, however most are asymptomatic and tumor is discovered incidentally. Indolent behavior is frequent and association with nephrolithiasis and end-stage kidney disease has been noted.",,,,,,,,, +GARD:21419,Active,Orphanet,ORPHA:319325,Disorder,[Disease],Tubulocystic renal cell carcinoma,,"Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (""bubble wrap-like"") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported.",,,,,,,,, +GARD:21420,Active,Orphanet,ORPHA:319328,Group of disorders,[Category],Inherited renal cancer-predisposing syndrome,,,,,,,,,,, +GARD:21421,Active,Orphanet,ORPHA:319494,Group of disorders,[Clinical group],Familial nonmedullary thyroid carcinoma,,A rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.,,,,,,,,, +GARD:21422,Active,Orphanet,ORPHA:319535,Group of disorders,[Category],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency,[Autosomal recessive MSMD due to a complete deficiency],"A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.",,,,,,,,, +GARD:21423,Active,Orphanet,ORPHA:319539,Group of disorders,[Category],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency,[Autosomal recessive MSMD due to a partial deficiency],A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to autosomal recessive mutations in the IFNGR1 and IFNGR2 genes which lead to a residual response of IFN-gamma.,,,,,,,,, +GARD:21424,Active,Orphanet,ORPHA:319543,Group of disorders,[Category],Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency,[Autosomal dominant MSMD due to a partial deficiency],"A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).",,,,,,,,, +GARD:21425,Active,Orphanet,ORPHA:319589,Disorder,[Disease],Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,"[Autosomal dominant MSMD due to partial IFNgammaR2 deficiency, Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency]","A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",,,,,,,,, +GARD:21426,Active,Orphanet,ORPHA:319667,Disorder,[Disease],Primary lymphoma of the conjunctiva,[Primary lymphoid conjunctival tumor],"Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.",,,,,,,,, +GARD:21427,Active,Orphanet,ORPHA:319719,Group of disorders,[Category],Autoinflammatory syndrome of childhood,,,,,,,,,,, +GARD:21428,Active,Orphanet,ORPHA:320332,Group of disorders,[Clinical group],X-linked pure spastic paraplegia,,,,,,,,,,, +GARD:21429,Active,Orphanet,ORPHA:320335,Group of disorders,[Clinical group],Pure or complex hereditary spastic paraplegia,"[Pure or complex familial spastic paraplegia, Pure or complicated familial spastic paraplegia, Pure or complicated hereditary spastic paraplegia]",,,,,,,,,, +GARD:2143,Active,Orphanet,ORPHA:79405,Disorder,[Disease],Junctional epidermolysis bullosa inversa,"[JEB inversa, JEB-I]","A rare intermediate form of junctional epidermolysis bullosa characterized by congenital blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.",[226650],,,,,Junctional epidermolysis bullosa inversa,TRUE,FALSE,Active +GARD:21430,Active,Orphanet,ORPHA:320342,Group of disorders,[Clinical group],Pure or complex autosomal dominant spastic paraplegia,[Pure or complicated autosomal dominant spastic paraplegia],,,,,,,,,, +GARD:21431,Active,Orphanet,ORPHA:320346,Group of disorders,[Clinical group],Pure or complex autosomal recessive spastic paraplegia,[Pure or complicated autosomal recessive spastic paraplegia],,,,,,,,,, +GARD:21432,Active,Orphanet,ORPHA:320350,Group of disorders,[Clinical group],Pure or complex X-linked spastic paraplegia,[Pure or complicated X-linked spastic paraplegia],,,,,,,,,, +GARD:21433,Active,Orphanet,ORPHA:320360,Disorder,[Disease],MT-ATP6-related mitochondrial spastic paraplegia,"[Maternally-inherited SPG, Maternally-inherited spastic paraplegia]","MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.",,,,,,,,, +GARD:21434,Active,Orphanet,ORPHA:322126,Group of disorders,[Category],Genetic tumor of hematopoietic and lymphoid tissues,,,,,,,,,,, +GARD:21435,Active,Orphanet,ORPHA:324299,Disorder,[Disease],Multiple paragangliomas associated with polycythemia,"[Multiple paragangliomas associated with erythrocytosis, Paraganglioma-somatostatinoma-polycythemia syndrome]","A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple parangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.",,,,,,,,, +GARD:21436,Active,Orphanet,ORPHA:324307,Disorder,[Disease],Severe lateral tibial bowing with short stature,,"Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.",,,,,,,,, +GARD:21437,Active,Orphanet,ORPHA:324313,Disorder,[Malformation syndrome],9p13 microdeletion syndrome,"[Del(9)(p13), Monosomy 9p13]","9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).",,,,,,,,, +GARD:21438,Active,Orphanet,ORPHA:324353,Disorder,[Morphological anomaly],Congenital achiasma,,"Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.",,,,,,,,, +GARD:21439,Active,Orphanet,ORPHA:324364,Disorder,[Disease],Mixed sclerosing bone dystrophy with extra-skeletal manifestations,,"A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated.",,,,,,,,, +GARD:21440,Active,Orphanet,ORPHA:324381,Disorder,[Disease],Hereditary inclusion body myopathy type 4,[HIBM4],"Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.",,,,,,,,, +GARD:21441,Active,Orphanet,ORPHA:324416,Disorder,[Malformation syndrome],Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome,,"Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.",,,,,,,,, +GARD:21442,Active,Orphanet,ORPHA:324525,Disorder,[Disease],Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation,"[Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation, Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation]","A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.",,,,,,,,, +GARD:21443,Active,Orphanet,ORPHA:324540,Disorder,[Malformation syndrome],Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,"[Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome, Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.",,,,,,,,, +GARD:21444,Active,Orphanet,ORPHA:324575,Disorder,[Disease],Hyperinsulinism due to HNF1A deficiency,[Hyperinsulinemic hypoglycemia due to HNF1A deficiency],"Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.",,,,,,,,, +GARD:21445,Active,Orphanet,ORPHA:324581,Disorder,[Disease],Benign Samaritan congenital myopathy,,"Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.",,,,,,,,, +GARD:21446,Active,Orphanet,ORPHA:324585,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,[Autosomal dominant intermediate CMT disease with neuropathic pain],"A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.",,,,,,,,, +GARD:21447,Active,Orphanet,ORPHA:324611,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,[CMT2 due to KIF5A mutation],"A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.",,,,,,,,, +GARD:21448,Active,Orphanet,ORPHA:324632,Disorder,[Disease],Hendra virus infection,,"Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.",,,,,,,,, +GARD:21449,Active,Orphanet,ORPHA:324648,Disorder,[Disease],Invasive non-typhoidal salmonellosis,"[Invasive non-typhoidal salmonella disease, iNTS disease]","Invasive non-typhoidal salmonellosis is a rare, bacterial, infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed.",,,,,,,,, +GARD:21450,Active,Orphanet,ORPHA:324761,Group of disorders,[Clinical group],Microcephalic primordial dwarfism,,,,,,,,,,, +GARD:21451,Active,Orphanet,ORPHA:324764,Group of disorders,[Clinical group],Trichorhinophalangeal syndrome,,,,,,,,,,, +GARD:21452,Active,Orphanet,ORPHA:324767,Group of disorders,[Category],Non-familial rare disease with dilated cardiomyopathy,,,,,,,,,,, +GARD:21453,Active,Orphanet,ORPHA:324924,Group of disorders,[Category],Hereditary periodic fever syndrome,,,,,,,,,,, +GARD:21454,Active,Orphanet,ORPHA:324927,Group of disorders,[Category],Pyogenic autoinflammatory syndrome,,,,,,,,,,, +GARD:21455,Active,Orphanet,ORPHA:324930,Group of disorders,[Category],Granulomatous autoinflammatory syndrome,,,,,,,,,,, +GARD:21456,Active,Orphanet,ORPHA:324933,Group of disorders,[Category],Mixed autoinflammatory and autoimmune syndrome,,"Mixed autoinflammatory and autoimmune syndrome is a group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincally with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems.",,,,,,,,, +GARD:21457,Active,Orphanet,ORPHA:324936,Group of disorders,[Category],Unclassified autoinflammatory syndrome,,,,,,,,,,, +GARD:21458,Active,Orphanet,ORPHA:324939,Group of disorders,[Category],Periodic fever syndrome of childhood,,,,,,,,,,, +GARD:21459,Active,Orphanet,ORPHA:324942,Group of disorders,[Category],Pyogenic autoinflammatory syndrome of childhood,,,,,,,,,,, +GARD:2146,Active,Orphanet,ORPHA:79400,Disorder,[Disease],Localized epidermolysis bullosa simplex,"[EBS-loc, Epidermolysis bullosa simplex of palms and soles, Epidermolysis bullosa simplex, Weber-Cockayne type, Localized EBS]","Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.",[131800],,,,,"Epidermolysis bullosa simplex, localized",TRUE,FALSE,Active +GARD:21460,Active,Orphanet,ORPHA:324950,Group of disorders,[Category],Granulomatous autoinflammatory syndrome of childhood,,,,,,,,,,, +GARD:21461,Active,Orphanet,ORPHA:324953,Group of disorders,[Category],Unclassified autoinflammatory syndrome of childhood,,,,,,,,,,, +GARD:21462,Active,Orphanet,ORPHA:324960,Group of disorders,[Category],Unexplained periodic fever syndrome of childhood,,,,,,,,,,, +GARD:21463,Active,Orphanet,ORPHA:325055,Group of disorders,[Category],"46,XX disorder of gonadal development",,,,,,,,,,, +GARD:21464,Active,Orphanet,ORPHA:325061,Group of disorders,[Category],"46,XX disorder of sex development induced by fetoplacental androgens excess","[46,XX DSD induced by fetoplacental androgens excess]",,,,,,,,,, +GARD:21465,Active,Orphanet,ORPHA:325093,Group of disorders,[Clinical group],"46,XX disorder of sex development induced by endogenous maternal-derived androgen","[46,XX DSD induced by endogenous maternal-derived androgen]",,,,,,,,,, +GARD:21466,Active,Orphanet,ORPHA:325099,Group of disorders,[Clinical group],"46,XX disorder of sex development induced by exogenous maternal-derived androgen","[46,XX DSD induced by exogenous maternal-derived androgen]",,,,,,,,,, +GARD:21467,Active,Orphanet,ORPHA:325109,Group of disorders,[Category],"Syndrome with 46,XX disorder of sex development","[Syndrome with 46,XX DSD]",,,,,,,,,, +GARD:21468,Active,Orphanet,ORPHA:325118,Group of disorders,[Category],"46,XY disorder of gonadal development",,,,,,,,,,, +GARD:21469,Active,Orphanet,ORPHA:325345,Disorder,[Disease],"46,XY ovotesticular disorder of sex development","[46,XY ovotesticular DSD]","46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.",,,,,,,,, +GARD:2147,Active,Orphanet,ORPHA:79399,Disorder,[Disease],"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form","[Autosomal dominant generalized EBS, intermediate form, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex, Köbner type]","Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.",[131900],,,,,"Epidermolysis bullosa simplex, generalized",TRUE,FALSE,Active +GARD:21470,Active,Orphanet,ORPHA:325351,Group of disorders,[Category],"46,XY disorder of sex development of endocrine origin","[46,XY DSD of endocrine origin]",,,,,,,,,, +GARD:21471,Active,Orphanet,ORPHA:325357,Group of disorders,[Category],"46,XY disorder of sex development due to impaired androgen production","[46,XY DSD due to impaired androgen production]",,,,,,,,,, +GARD:21472,Active,Orphanet,ORPHA:325511,Group of disorders,[Category],"46,XY disorder of sex development due to a cholesterol synthesis defect","[46,XY DSD due to a cholesterol synthesis defect]",,,,,,,,,, +GARD:21473,Active,Orphanet,ORPHA:325524,Subtype of disorder,[Clinical subtype],Classic congenital lipoid adrenal hyperplasia due to STAR deficency,[Classic CLAH],,,,,,,,,, +GARD:21474,Active,Orphanet,ORPHA:325529,Subtype of disorder,[Clinical subtype],Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency,,,,,,,,,,, +GARD:21475,Active,Orphanet,ORPHA:325537,Group of disorders,[Category],"46,XY disorder of sex development induced by maternal exposure to endocrine disruptors","[46,XY DSD induced by maternal-exposure to endocrine disruptors]",,,,,,,,,, +GARD:21476,Active,Orphanet,ORPHA:325546,Group of disorders,[Category],Sex chromosome disorder of sex development,[Sex chromosome DSD],,,,,,,,,, +GARD:21477,Active,Orphanet,ORPHA:325620,Group of disorders,[Category],Disorder of sex development of gynecological interest,[DSD of gynecological interest],,,,,,,,,, +GARD:21478,Active,Orphanet,ORPHA:325632,Group of disorders,[Category],"46,XY disorder of sex development of gynecological interest","[46,XY DSD of gynecological interest]",,,,,,,,,, +GARD:21479,Active,Orphanet,ORPHA:325638,Group of disorders,[Category],Syndrome with disorder of sex development of gynecological interest,[Syndrome with DSD of gynecological interest],,,,,,,,,, +GARD:2148,Active,Orphanet,ORPHA:79401,Disorder,[Disease],PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,[PLEC-related intermediate EBS without extracutaneous involvement],"A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.",[131950],,,,,"Epidermolysis bullosa simplex, Ogna type",TRUE,FALSE,Active +GARD:21480,Active,Orphanet,ORPHA:325665,Group of disorders,[Category],Genetic disorder of sex development of gynecological interest,[Genetic DSD of gynecological interest],,,,,,,,,, +GARD:21481,Active,Orphanet,ORPHA:325690,Group of disorders,[Category],Genetic disorder of sex development,[Genetic DSD],,,,,,,,,, +GARD:21482,Active,Orphanet,ORPHA:325697,Group of disorders,[Category],"Genetic 46,XX disorder of sex development","[Genetic 46,XX DSD]",,,,,,,,,, +GARD:21483,Active,Orphanet,ORPHA:325706,Group of disorders,[Category],"Genetic 46,XY disorder of sex development","[Genetic 46,XY DSD]",,,,,,,,,, +GARD:21484,Active,Orphanet,ORPHA:325713,Group of disorders,[Category],"Genetic 46,XY disorder of sex development of endocrine origin","[Genetic 46,XY DSD of endocrine origin]",,,,,,,,,, +GARD:21485,Active,Orphanet,ORPHA:329217,Disorder,[Disease],Cerebral sinovenous thrombosis,[CSVT],"A rare, potentially life-threatening, circulatory system disease characterized by variable signs and symptoms which may include headache, seizures, altered mental status, intracranial hypertension and cavernous sinus syndrome, among others.",,,,,,,,, +GARD:21486,Active,Orphanet,ORPHA:329249,Subtype of disorder,[Etiological subtype],Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,,"A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.",,,,,,,,, +GARD:21487,Active,Orphanet,ORPHA:329319,Disorder,[Disease],Thrombocythemia with distal limb defects,"[Familial thrombocytosis with transverse limb defect, Hereditary thrombocytosis with transverse limb defect]","Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.",,,,,,,,, +GARD:21488,Active,Orphanet,ORPHA:329324,Disorder,[Disease],Inverse Klippel-Trénaunay syndrome,[Cutaneous hemangioma with muscle or bone atrophy],,,,,,,,,, +GARD:21489,Active,Orphanet,ORPHA:329329,Disorder,[Malformation syndrome],Autosomal recessive frontotemporal pachygyria,,"A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.",,,,,,,,, +GARD:21490,Active,Orphanet,ORPHA:329469,Subtype of disorder,[Clinical subtype],Acute megakaryoblastic leukemia without Down syndrome,[Non-DS-AMKL],,,,,,,,,, +GARD:21491,Active,Orphanet,ORPHA:329475,Disorder,[Disease],Spastic paraplegia-Paget disease of bone syndrome,,"Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.",,,,,,,,, +GARD:21492,Active,Orphanet,ORPHA:329478,Disorder,[Disease],Adult-onset distal myopathy due to VCP mutation,,"A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.",,,,,,,,, +GARD:21493,Active,Orphanet,ORPHA:329813,Disorder,[Malformation syndrome],Mosaic genome-wide paternal uniparental disomy,"[Androgenetic/biparental mosaicism, Genome-wide paternal uniparental disomy mosaicism, Mosaic genome-wide paternal UPD]","A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.",,,,,,,,, +GARD:21494,Active,Orphanet,ORPHA:329874,Disorder,[Disease],Idiopathic giant cell myocarditis,[IGCM],"A rare cardiomyopathy characterized by progressive myocarditis with diffuse infiltration of cardiac tissue by lymphocytes, macrophages, multinuclear giant cells, and myocardial necrosis. Clinical presentation includes rapidly progressive heart failure, ventricular arrhythmias, complete heart block, and sudden cardiac death. Some patients have associated autoimmune disorders.",,,,,,,,, +GARD:21495,Active,Orphanet,ORPHA:329883,Disorder,[Disease],Non-hypoproteinemic hypertrophic gastropathy,[Hypertrophic gastropathy without hypoproteinemia],"Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.",,,,,,,,, +GARD:21496,Active,Orphanet,ORPHA:329888,Group of disorders,[Category],Juvenile idiopathic inflammatory myopathy,[JIIM],,,,,,,,,, +GARD:21497,Active,Orphanet,ORPHA:329894,Disorder,[Disease],Juvenile overlap myositis,,"A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.",,,,,,,,, +GARD:21498,Active,Orphanet,ORPHA:329942,Disorder,[Disease],Transient neonatal multiple acyl-CoA dehydrogenase deficiency,"[Transient neonatal MAD deficiency, Transient neonatal MADD, Transient neonatal glutaric acidemia type 2, Transient neonatal glutaric aciduria type 2]","Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.",,,,,,,,, +GARD:21499,Active,Orphanet,ORPHA:329967,Disorder,[Disease],Intermittent hydrarthrosis,,"A rare rheumatologic disease characterized by recurrent self-remitting episodes of acute monoarticular arthritis, often with a fixed periodicity, typically affecting the knee or another large joint, which develops an effusion over 12 to 24 hours with only mild to moderate pain and minimal signs of inflammation. Attacks last three to five days and may parallel menses in females. Systemic symptoms are absent, and no joint damage occurs.",,,,,,,,, +GARD:215,Active,Orphanet,ORPHA:1768,Disorder,[Malformation syndrome],Familial caudal dysgenesis,[Rudd-Klimek syndrome],"A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.",,,,,,Familial caudal dysgenesis,TRUE,FALSE,Active +GARD:2150,Active,Orphanet,ORPHA:303,Group of disorders,[Clinical group],Dystrophic epidermolysis bullosa,"[DEB, Dermolytic epidermolysis bullosa, Epidermolysis bullosa dystrophica]","A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB.",,,,,,Dystrophic epidermolysis bullosa,TRUE,FALSE,Active +GARD:21500,Active,Orphanet,ORPHA:329977,Subtype of disorder,[Clinical subtype],Classic neuroendocrine tumor of appendix,"[Classic appendiceal neuroendocrine tumor, Classic appendix neuroendocrine tumor]","A rare endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. It is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.",,,,,,,,, +GARD:21501,Active,Orphanet,ORPHA:330001,Disorder,[Disease],Wild type ATTR amyloidosis,"[ATTRwt amyloidosis, ATTRwt-related amyloidosis, Senile systemic amyloidosis, Wild type ATTR-related amyloidosis]","A common form of systemic amyloidosis characterized by deposition of wild type transthyretin predominantly in the heart and the soft tissues (mainly the carpal tunnel region, lumbar canal and tendons).",,,,,,,,, +GARD:21502,Active,Orphanet,ORPHA:330012,Disorder,[Particular clinical situation in a disease or syndrome],High altitude pulmonary edema,,"A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.",,,,,,,,, +GARD:21503,Active,Orphanet,ORPHA:330015,Disorder,[Disease],Lead poisoning,"[Lead intoxication, Plumbism, Saturnism]","Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.",,,,,,,,, +GARD:21504,Active,Orphanet,ORPHA:330029,Disorder,[Disease],Hypotrichosis-deafness syndrome,[Hypotrichosis-hearing loss syndrome],"A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.",,,,,,,,, +GARD:21505,Active,Orphanet,ORPHA:330032,Disorder,[Disease],Hemoglobin Lepore-beta-thalassemia syndrome,"[HbLepore-beta-thalassemia syndrome, Lepore-beta-thalassemia syndrome]","A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.",,,,,,,,, +GARD:21506,Active,Orphanet,ORPHA:330064,Disorder,[Disease],Chronic actinic dermatitis,"[Actinic reticuloid, Chronic photosensitivity dermatitis]","Chronic actinic dermatitis (CAD) is an immunologically mediated photodermatosis usually observed in temperate climates and that typically develops in middle-aged to elderly males. CAD is characterized by eczematous and often lichenified pruritic patches and confluent plaques located predominantly on sun-exposed areas with notable sparing of eyelids, skin folds, and postauricular skin. It is often accompanied by multiple contact allergies and usually occurs in a background of either atopic, contact allergic, or seborrheic dermatitis, although it can occur de novo. Resolution of photosensitivity is reported in up to 50% of individuals after 15 years or more, with contact allergies persisting.",,,,,,,,, +GARD:21507,Active,Orphanet,ORPHA:330206,Group of disorders,[Category],Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability,"[Genetic MCA, Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)]",,,,,,,,,, +GARD:21508,Active,Orphanet,ORPHA:331184,Group of disorders,[Category],Constitutional neutropenia with extra-hematopoietic manifestations,,,,,,,,,,, +GARD:21509,Active,Orphanet,ORPHA:331193,Group of disorders,[Category],Other immunodeficiency syndromes due to defects in innate immunity,,,,,,,,,,, +GARD:2151,Legacy,GARD,,,,,,,,,,,,Junctional epidermolysis bullosa generalized intermediate,TRUE,FALSE,Active +GARD:21510,Active,Orphanet,ORPHA:331217,Group of disorders,[Category],Syndrome with combined immunodeficiency,,,,,,,,,,, +GARD:21511,Active,Orphanet,ORPHA:331220,Group of disorders,[Category],Immunodeficiency due to absence of thymus,,,,,,,,,,, +GARD:21512,Active,Orphanet,ORPHA:331232,Group of disorders,[Category],Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells,,,,,,,,,,, +GARD:21513,Active,Orphanet,ORPHA:331240,Group of disorders,[Category],Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells,,,,,,,,,,, +GARD:21514,Active,Orphanet,ORPHA:331244,Group of disorders,[Category],Other immunodeficiency syndrome with predominantly antibody defects,,,,,,,,,,, +GARD:21515,Active,Orphanet,ORPHA:331249,Group of disorders,[Category],Immunodeficiency syndrome with hypopigmentation,,,,,,,,,,, +GARD:21516,Active,Orphanet,ORPHA:352301,Group of disorders,[Category],"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis",,,,,,,,,,, +GARD:21517,Active,Orphanet,ORPHA:352306,Group of disorders,[Category],"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement",,,,,,,,,,, +GARD:21518,Active,Orphanet,ORPHA:352309,Group of disorders,[Category],"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement",,,,,,,,,,, +GARD:21519,Active,Orphanet,ORPHA:352312,Group of disorders,[Category],"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement",,,,,,,,,,, +GARD:2152,Active,Orphanet,ORPHA:305,Group of disorders,[Clinical group],Junctional epidermolysis bullosa,"[Epidermolysis bullosa atrophicans, JEB]","A group of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.",,,,,,Junctional epidermolysis bullosa,TRUE,FALSE,Active +GARD:21520,Active,Orphanet,ORPHA:352456,Group of disorders,[Category],Mitochondrial DNA maintenance syndrome,[mtDNA maintenance syndrome],,,,,,,,,, +GARD:21521,Active,Orphanet,ORPHA:352530,Disorder,[Disease],Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,[Autosomal recessive intellectual disability due to TRAPPC9 deficiency],"Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.",,,,,,,,, +GARD:21522,Active,Orphanet,ORPHA:352587,Disorder,[Disease],Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,[Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome],"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.",,,,,,,,, +GARD:21523,Active,Orphanet,ORPHA:352629,Disorder,[Disease],16q24.1 microdeletion syndrome,"[Del(16)(q24.1), Monosomy 16q24.1]","A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).",,,,,,,,, +GARD:21524,Active,Orphanet,ORPHA:352636,Disorder,[Disease],Phalangeal microgeodic syndrome,[Phalangeal osteolysis],"A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.",,,,,,,,, +GARD:21525,Active,Orphanet,ORPHA:352641,Disorder,[Disease],Autosomal recessive cerebellar ataxia with late-onset spasticity,[Autosomal recessive cerebellar ataxia due to GBA2 deficiency],"A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.",,,,,,,,, +GARD:21526,Active,Orphanet,ORPHA:352665,Subtype of disorder,[Etiological subtype],Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,"[9q21.3 microdeletion syndrome, Del(9)(q21.3)]",,,,,,,,,, +GARD:21527,Active,Orphanet,ORPHA:352723,Disorder,[Disease],Attenuated Chédiak-Higashi syndrome,[Atypical Chédiak-Higashi syndrome],"A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.",,,,,,,,, +GARD:21528,Active,Orphanet,ORPHA:352728,Group of disorders,[Category],Disorder of melanin metabolism,,,,,,,,,,, +GARD:21529,Active,Orphanet,ORPHA:352734,Subtype of disorder,[Clinical subtype],Minimal pigment oculocutaneous albinism type 1,"[MP OCA type 1, OCA1-MP]","An extremely rare form of Oculocutaneous albinism type 1 with minimal pigment present, characterized by blond hair (white at birth), variable iris transillumination (blue irides at birth followed by minimal development of pigment during the first decade of life), visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.",,,,,,,,, +GARD:2153,Active,Orphanet,ORPHA:79404,Disorder,[Disease],Severe generalized junctional epidermolysis bullosa,"[Epidermolysis bullosa letalis, JEB-H, Junctional epidermolysis bullosa generalisata gravis, Junctional epidermolysis bullosa, Herlitz type, Junctional epidermolysis bullosa, Herlitz-Pearson type, Severe generalized JEB]","A severe form of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.",[226700],,,,,"Junctional epidermolysis bullosa, Herlitz type",TRUE,FALSE,Active +GARD:21530,Active,Orphanet,ORPHA:353334,Disorder,[Morphological anomaly],Congenital retinal arteriovenous communication,"[Congenital arteriovenous anastomoses of the retina, Congenital arteriovenous communication of the retina, Congenital retinal arteriovenous anastomoses]","A rare neurovascular malformation characterized by a unilateral, direct communication between the arterial and venous system in the retina via abnormal, enlarged vessels, but without interposed capillaries. The inferotemporal vasculature is most commonly affected. Patients may be asymptomatic or present with variable degrees of visual loss. Local vascular complications include vascular occlusions or retinal or vitreous hemorrhages. The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present.",,,,,,,,, +GARD:21531,Active,Orphanet,ORPHA:353344,Disorder,[Disease],Idiopathic macular telangiectasia type 1,"[Aneurysmal telangiectasia, Visible and exudative idiopathic juxtafoveolar retinal telangiectasis]","Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.",,,,,,,,, +GARD:21532,Active,Orphanet,ORPHA:353351,Disorder,[Disease],Idiopathic macular telangiectasia type 3,[Occlusive idiopathic juxtafoveolar retinal telangiectasis],"Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.",,,,,,,,, +GARD:21533,Active,Orphanet,ORPHA:353356,Disorder,[Disease],Vasoproliferative tumor of the retina,"[Retinal vasoproliferative tumor, VPTR, Vasoproliferative tumor of the ocular fundus]","Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.",,,,,,,,, +GARD:21534,Active,Orphanet,ORPHA:356947,Disorder,[Malformation syndrome],3q26q27 microdeletion syndrome,"[Del(3)(q26q27), Monosomy 3q26q27]","3q26q27 microdeletion syndrome is a rare partial autosomal monosomy syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported.",,,,,,,,, +GARD:21535,Active,Orphanet,ORPHA:357107,Subtype of disorder,[Clinical subtype],Arterial thoracic outlet syndrome,"[ATOS, Arterial TOS, Arterial cervical rib syndrome, Arterial costoclavicular syndrome, Arterial hyperabduction syndrome, Arterial scalenus anticus syndrome, Arterial thoracic outlet compression syndrome]",A form of thoracic outlet syndrome that presents as unilateral upper extremity ischemia.,,,,,,,,, +GARD:21536,Active,Orphanet,ORPHA:357131,Subtype of disorder,[Clinical subtype],Venous thoracic outlet syndrome,"[Effort subclavian vein thrombosis, Paget-Schrotter disease, VTOS, Venous TOS, Venous cervical rib syndrome, Venous costoclavicular syndrome, Venous hyperabduction syndrome, Venous scalenus anticus syndrome, Venous thoracic outlet compression syndrome]",Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS; see this term) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.,,,,,,,,, +GARD:21537,Active,Orphanet,ORPHA:357220,Disorder,[Disease],Primary essential cutis verticis gyrata,,"Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.",,,,,,,,, +GARD:21538,Active,Orphanet,ORPHA:357225,Disorder,[Disease],Primary non-essential cutis verticis gyrata,,"Primary non-essential cutis verticis gyrata is a rare, genetic, dermis disorder characterized by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy).",,,,,,,,, +GARD:21539,Active,Orphanet,ORPHA:357502,Group of disorders,[Clinical group],Idiopathic nephrotic syndrome,,"A rare primary glomerular group of diseases characterized by the triad of edema, massive, or nephrotic-range, proteinuria and hypoalbuminemia, for which there is no known cause. Depending on response to treatment, disease is distinguished into steroid-sensitive nephrotic syndrome (SSNS) and steroid-resistant nephrotic syndrome (SRNS), with the latter being further divided, depending on occurrence, into familial or sporadic forms.",,,,,,,,, +GARD:21540,Active,Orphanet,ORPHA:357506,Group of disorders,[Category],Genetic non-syndromic renal or urinary tract malformation,,,,,,,,,,, +GARD:21541,Active,Orphanet,ORPHA:363189,Group of disorders,[Category],Congenital anomaly of the great veins,,,,,,,,,,, +GARD:21542,Active,Orphanet,ORPHA:363203,Group of disorders,[Category],Ring chromosome,,,,,,,,,,, +GARD:21543,Active,Orphanet,ORPHA:363245,Group of disorders,[Category],Genetic progeroid syndrome,,,,,,,,,,, +GARD:21544,Active,Orphanet,ORPHA:363250,Group of disorders,[Category],Ciliopathy,,,,,,,,,,, +GARD:21545,Active,Orphanet,ORPHA:363294,Group of disorders,[Category],Genetic syndromic Pierre Robin syndrome,,,,,,,,,,, +GARD:21546,Active,Orphanet,ORPHA:363300,Group of disorders,[Category],Genetic intractable diarrhea of infancy,,,,,,,,,,, +GARD:21547,Active,Orphanet,ORPHA:363306,Group of disorders,[Category],Genetic intestinal disease due to fat malabsorption,,,,,,,,,,, +GARD:21548,Active,Orphanet,ORPHA:363314,Group of disorders,[Category],Genetic intestinal polyposis,[Familial intestinal polyposis],,,,,,,,,, +GARD:21549,Active,Orphanet,ORPHA:363472,Group of disorders,[Category],Tumor of testis and paratestis,[Testicular and paratesticular tumor],,,,,,,,,, +GARD:2155,Active,Orphanet,ORPHA:79410,Subtype of disorder,[Clinical subtype],"Localized dystrophic epidermolysis bullosa, pretibial form","[DEB-Pt, Localized DEB, pretibial form]","A form of localized dystrophic epidermolysis bullosa characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the anterior lower legs (pretibial areas and feet), the hands and nails. Individual lesions, which tend to be papular or plaque-like, are often violaceous. Pruritus is possible. Healing of blisters is associated with hypertrophic scarring and milia formation. Dystrophy of both fingernails and toenails is characteristic.",[131850],,,,,Pretibial epidermolysis bullosa,TRUE,FALSE,Active +GARD:21550,Active,Orphanet,ORPHA:363478,Disorder,[Disease],Paratesticular adenocarcinoma,[Adenocarcinoma of the paratestis],"A rare, locally invasive or malignant, urogenital tumor characterized by a gland-forming epithelial neoplasm arising from paratesticular structures, typically manifesting with a palpable scrotal mass, with or without hydrocele, and/or testicular pain.",,,,,,,,, +GARD:21551,Active,Orphanet,ORPHA:363489,Disorder,[Disease],Sex cord-stromal tumor of testis,[Testicular sex cord-stromal tumor],"A group of rare tumors of testis comprising neoplasms of pure sex cord or pure stromal type, or neoplasms with admixtures of both components in various proportions and degree of differentiation. The tumors usually present as a painless testicular mass, although some may be associated with endocrine manifestations such as precocious puberty, gynecomastia, or erectile dysfunction. Malignant behavior is seen only in a small percentage of these tumors.",,,,,,,,, +GARD:21552,Active,Orphanet,ORPHA:363549,Disorder,[Disease],Acute encephalopathy with biphasic seizures and late reduced diffusion,"[AESD, AIEF, Acute infantile encephalopathy predominantly affecting the frontal lobes]","A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.",,,,,,,,, +GARD:21553,Active,Orphanet,ORPHA:363567,Group of disorders,[Clinical group],Acute encephalopathy with inflammation-mediated status epilepticus,,,,,,,,,,, +GARD:21554,Active,Orphanet,ORPHA:363582,Group of disorders,[Category],Gonadal germ cell tumor,,,,,,,,,,, +GARD:21555,Active,Orphanet,ORPHA:363618,Disorder,[Disease],LMNA-related cardiocutaneous progeria syndrome,[LCPS],"LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.",,,,,,,,, +GARD:21556,Active,Orphanet,ORPHA:363659,Disorder,[Malformation syndrome],20q11.2 microduplication syndrome,[Dup(20)(q11.2)],"20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.",,,,,,,,, +GARD:21557,Active,Orphanet,ORPHA:363680,Disorder,[Malformation syndrome],2p13.2 microdeletion syndrome,[Del(2)(p13.2)],"A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.",,,,,,,,, +GARD:21558,Active,Orphanet,ORPHA:363746,Disorder,[Disease],Balint syndrome,"[Balint-Holmes syndrome, Optic ataxia-gaze apraxia-simultanagnosia syndrome]","Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.",,,,,,,,, +GARD:21559,Active,Orphanet,ORPHA:363965,Subtype of disorder,[Etiological subtype],Koolen-De Vries syndrome due to a point mutation,,,,,,,,,,, +GARD:2156,Legacy,GARD,,,,,,,,,,,,"Palmoplantar keratoderma, epidermolytic",TRUE,FALSE,Retired +GARD:21560,Active,Orphanet,ORPHA:363969,Disorder,[Disease],Autosomal recessive cerebral atrophy,,"A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.",,,,,,,,, +GARD:21561,Active,Orphanet,ORPHA:364013,Subtype of disorder,[Clinical subtype],Immune hydrops fetalis,"[IHF, Immune HF, Immune fetal edema, Immune fetal hydrops]","Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.",,,,,,,,, +GARD:21562,Active,Orphanet,ORPHA:364033,Disorder,[Disease],Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood,"[Systemic EBV+ T-cell LPD of childhood, Systemic EBV-positive T-cell lymphoproliferative disease of childhood]","A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.",,,,,,,,, +GARD:21563,Active,Orphanet,ORPHA:364039,Disorder,[Disease],Hydroa vacciniforme-like lymphoma,"[Angiocentric cutaneous T-cell lymphoma of childhood, HVLL, Hydroa-like cutaneous T-cell lymphoma]","A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.",,,,,,,,, +GARD:21564,Active,Orphanet,ORPHA:364043,Disorder,[Disease],ALK-positive large B-cell lymphoma,"[ALK+ LBCL, ALK+ large B-cell lymphoma]","A very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.",,,,,,,,, +GARD:21565,Active,Orphanet,ORPHA:364055,Disorder,[Disease],Severe early-childhood-onset retinal dystrophy,"[EOSRD, Early-onset severe retinal dystrophy, SECORD]","Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.",,,,,,,,, +GARD:21566,Active,Orphanet,ORPHA:364198,Disorder,[Morphological anomaly],Bipartite talus,,"A rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.",,,,,,,,, +GARD:21567,Active,Orphanet,ORPHA:364526,Group of disorders,[Category],Primary bone dysplasia,"[Primary osteodysplasia, Primary skeletal dysplasia]",,,,,,,,,, +GARD:21568,Active,Orphanet,ORPHA:364531,Group of disorders,[Category],"Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments","[Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments, Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments]",,,,,,,,,, +GARD:21569,Active,Orphanet,ORPHA:364536,Group of disorders,[Category],Primary bone dysplasia with micromelia,"[Primary osteodysplasia with micromelia, Primary skeletal dysplasia with micromelia]",,,,,,,,,, +GARD:21570,Active,Orphanet,ORPHA:364541,Group of disorders,[Clinical group],Otopalatodigital syndrome spectrum disorder,"[OPD spectrum disorder, OPSD]","Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.",,,,,,,,, +GARD:21571,Active,Orphanet,ORPHA:364559,Group of disorders,[Category],Dysostosis,,,,,,,,,,, +GARD:21572,Active,Orphanet,ORPHA:364568,Group of disorders,[Category],Dysostosis with limb anomaly as a major feature,,,,,,,,,,, +GARD:21573,Active,Orphanet,ORPHA:364571,Group of disorders,[Category],Dysostosis with limb and face anomalies as a major feature,,,,,,,,,,, +GARD:21574,Active,Orphanet,ORPHA:364574,Group of disorders,[Clinical group],Acrofacial dysostosis,,,,,,,,,,, +GARD:21575,Active,Orphanet,ORPHA:364803,Group of disorders,[Category],Rare bone disease related to a common gene or pathway defect,,,,,,,,,,, +GARD:21576,Active,Orphanet,ORPHA:364817,Group of disorders,[Category],Aggrecan-related bone disorder,,,,,,,,,,, +GARD:21577,Active,Orphanet,ORPHA:364820,Group of disorders,[Category],TRPV4-related bone disorder,,,,,,,,,,, +GARD:21578,Active,Orphanet,ORPHA:365563,Group of disorders,[Clinical group],Primary short bowel syndrome,,,,,,,,,,, +GARD:21579,Active,Orphanet,ORPHA:369847,Disorder,[Disease],Intellectual disability-hyperkinetic movement-truncal ataxia syndrome,,"A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported.",,,,,,,,, +GARD:21580,Active,Orphanet,ORPHA:369873,Subtype of disorder,[Etiological subtype],Obesity due to SIM1 deficiency,,"A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.",,,,,,,,, +GARD:21581,Active,Orphanet,ORPHA:369881,Disorder,[Malformation syndrome],2p21 microdeletion syndrome without cystinuria,[Del(2)(p21) without cystinuria],"2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.",,,,,,,,, +GARD:21582,Active,Orphanet,ORPHA:369886,Group of disorders,[Clinical group],Homozygous 2p21 microdeletion syndrome,[2p21 contiguous gene deletion syndrome],,,,,,,,,, +GARD:21583,Active,Orphanet,ORPHA:369950,Disorder,[Disease],Intellectual disability-seizures-macrocephaly-obesity syndrome,[Der(8)t(8;12)],"Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.",,,,,,,,, +GARD:21584,Active,Orphanet,ORPHA:369979,Disorder,[Malformation syndrome],Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome,,"Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is a rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces.",,,,,,,,, +GARD:21585,Active,Orphanet,ORPHA:370010,Disorder,[Malformation syndrome],Intellectual disability-facial dysmorphism-hand anomalies syndrome,,"Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.",,,,,,,,, +GARD:21586,Active,Orphanet,ORPHA:370015,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Isidor type",,"Spondyloepimetaphyseal dysplasia, Isidor type is rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genum varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.",,,,,,,,, +GARD:21587,Active,Orphanet,ORPHA:370019,Disorder,[Disease],"Spondylometaphyseal dysplasia, Czarny-Ratajczak type",,"Spondylometaphyseal dysplasia, Czarny-Ratajczak type is a rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying) which is more severe in the femur and forearm bones than the metacarpals and phalanges, and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions, and severe platyspondyly.",,,,,,,,, +GARD:21588,Active,Orphanet,ORPHA:370026,Disorder,[Disease],Acute myeloid leukemia with t(8;16)(p11;p13) translocation,[AML with t(8;16)(p11;p13) translocation],"A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.",,,,,,,,, +GARD:21589,Active,Orphanet,ORPHA:370034,Subtype of disorder,[Clinical subtype],Familial syringomyelia,,,,,,,,,,, +GARD:2159,Legacy,GARD,,,,,,,,,,,,Benign familial neonatal epilepsy,TRUE,FALSE,Active +GARD:21590,Active,Orphanet,ORPHA:370039,Disorder,[Disease],Angora hair nevus,[Schauder syndrome],"A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko's lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported.",,,,,,,,, +GARD:21591,Active,Orphanet,ORPHA:370046,Disorder,[Disease],Didymosis aplasticosebacea,[Aplasia cutis congenita-nevus sebaceus syndrome],Didymosis aplasticosebacea is a rare skin disorder characterized by the co-ocurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.,,,,,,,,, +GARD:21592,Active,Orphanet,ORPHA:370052,Disorder,[Disease],SCALP syndrome,"[Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome, Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome]","SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement.",,,,,,,,, +GARD:21593,Active,Orphanet,ORPHA:370059,Disorder,[Disease],NEVADA syndrome,[Nevus epidermicus verrucosus with angiodysplasia and aneurysms],"A rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.",,,,,,,,, +GARD:21594,Active,Orphanet,ORPHA:370068,Group of disorders,[Clinical group],Fetal anticonvulsant syndrome,"[FACS, Fetal AEDS, Fetal antiepileptic drug syndrome]",,,,,,,,,, +GARD:21595,Active,Orphanet,ORPHA:370076,Disorder,[Malformation syndrome],Fetal carbamazepine syndrome,,"Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.",,,,,,,,, +GARD:21596,Active,Orphanet,ORPHA:370106,Group of disorders,[Category],Rare disorder with dystonia and other neurologic or systemic manifestation,,,,,,,,,,, +GARD:21597,Active,Orphanet,ORPHA:370109,Disorder,[Disease],Ataxia-telangiectasia variant,[v-AT],"A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.",,,,,,,,, +GARD:21598,Active,Orphanet,ORPHA:370127,Disorder,[Disease],Medich giant platelet syndrome,[Medich macrothrombocytopenia],Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.,,,,,,,,, +GARD:21599,Active,Orphanet,ORPHA:370930,Disorder,[Disease],XYLT1-CDG,,"XYLT1-CDG is a rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophyrs and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs.",,,,,,,,, +GARD:216,Active,Orphanet,ORPHA:1323,Disorder,[Malformation syndrome],Camptodactyly-joint contractures-facial skeletal defects syndrome,[Rozin camptodactyly syndrome],"A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).",[602612],,,,,Rozin Hertz Goodman syndrome,TRUE,FALSE,Active +GARD:2160,Legacy,GARD,,,,,,,,,,,,Epilepsy benign neonatal recessive form,TRUE,FALSE,Retired +GARD:21600,Active,Orphanet,ORPHA:371007,Disorder,[Disease],Congenital muscular dystrophy with hyperlaxity,[CMDH],"Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.",,,,,,,,, +GARD:21601,Active,Orphanet,ORPHA:371024,Group of disorders,[Category],Qualitative or quantitative defects of alpha-dystroglycan,"[Alpha-dystroglycanopathy, Dystroglycanopathy]",,,,,,,,,, +GARD:21602,Active,Orphanet,ORPHA:371040,Group of disorders,[Category],Primary qualitative or quantitative defects of alpha-dystroglycan,"[Primary alpha-dystroglycanopathy, Primary dystroglycanopathy]",,,,,,,,,, +GARD:21603,Active,Orphanet,ORPHA:371047,Group of disorders,[Category],Congenital disorder of glycosylation with neurological involvement,[CDG with neurological involvement],,,,,,,,,, +GARD:21604,Active,Orphanet,ORPHA:371071,Group of disorders,[Category],Congenital disorder of glycosylation with epilepsy as a major feature,[CDG with epilepsy as a major feature],,,,,,,,,, +GARD:21605,Active,Orphanet,ORPHA:371157,Group of disorders,[Category],Congenital disorder of glycosylation with hepatic involvement,[CDG with hepatic involvement],,,,,,,,,, +GARD:21606,Active,Orphanet,ORPHA:371176,Group of disorders,[Category],Congenital disorder of glycosylation with dilated cardiomyopathy,[CDG with dilated cardiomyopathy],,,,,,,,,, +GARD:21607,Active,Orphanet,ORPHA:371183,Group of disorders,[Category],Congenital disorder of glycosylation with cardiac malformation as a major feature,[CDG with cardiac malformation as a major feature],,,,,,,,,, +GARD:21608,Active,Orphanet,ORPHA:371188,Group of disorders,[Category],Congenital disorder of glycosylation with intestinal involvement,[CDG with intestinal involvement],,,,,,,,,, +GARD:21609,Active,Orphanet,ORPHA:371195,Group of disorders,[Category],Congenital disorder of glycosylation-related bone disorder,[CDG-related bone disorder],,,,,,,,,, +GARD:21610,Active,Orphanet,ORPHA:371200,Group of disorders,[Category],Congenital disorder of glycosylation with skin involvement,[CDG with skin involvement],,,,,,,,,, +GARD:21611,Active,Orphanet,ORPHA:371207,Group of disorders,[Category],Congenital disorder of glycosylation with nephropathy as a major feature,[CDG with nephropathy as a major feature],,,,,,,,,, +GARD:21612,Active,Orphanet,ORPHA:371212,Group of disorders,[Category],Congenital disorder of glycosylation with deafness as a major feature,"[CDG with deafness as a major feature, CDG with hearing loss as a major feature, Congenital disorder of glycosylation with hearing loss as a major feature]",,,,,,,,,, +GARD:21613,Active,Orphanet,ORPHA:371433,Group of disorders,[Category],Genetic periodic paralysis,,,,,,,,,,, +GARD:21614,Active,Orphanet,ORPHA:371436,Group of disorders,[Category],Genetic neurovascular malformation,,,,,,,,,,, +GARD:21615,Active,Orphanet,ORPHA:371442,Group of disorders,[Category],Sphingolipidosis with epilepsy,,,,,,,,,,, +GARD:21616,Active,Orphanet,ORPHA:371445,Group of disorders,[Category],Genetic syndromic esophageal malformation,,,,,,,,,,, +GARD:21617,Active,Orphanet,ORPHA:371861,Group of disorders,[Category],Genetic hyperaldosteronism,,,,,,,,,,, +GARD:21618,Active,Orphanet,ORPHA:376724,Group of disorders,[Category],Generalized isolated dystonia,,,,,,,,,,, +GARD:21619,Active,Orphanet,ORPHA:391316,Disorder,[Disease],Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,,"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.",,,,,,,,, +GARD:2162,Active,Orphanet,ORPHA:1941,Disorder,[Disease],Juvenile absence epilepsy,[JAE],"Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.",[607631],,,,,Epilepsy juvenile absence,TRUE,FALSE,Active +GARD:21620,Active,Orphanet,ORPHA:391343,Disorder,[Disease],Fatal post-viral neurodegenerative disorder,,"Fatal post-viral neurodegenerative disorder is a rare neuroinflammatory disease characterized by the onset of ataxia, dysarthia and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertrigliceridemia, hypofibrinogenemia and hyperferritinemia.",,,,,,,,, +GARD:21621,Active,Orphanet,ORPHA:391366,Disorder,[Disease],Growth retardation-mild developmental delay-chronic hepatitis syndrome,,"Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.",,,,,,,,, +GARD:21622,Active,Orphanet,ORPHA:391381,Group of disorders,[Category],Disorder of asparagine metabolism,,,,,,,,,,, +GARD:21623,Active,Orphanet,ORPHA:391490,Subtype of disorder,[Clinical subtype],Adult-onset myasthenia gravis,"[Adult-onset acquired myasthenia, Adult-onset autoimmune myasthenia gravis]","A rare autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.",,,,,,,,, +GARD:21624,Active,Orphanet,ORPHA:391497,Subtype of disorder,[Clinical subtype],Juvenile myasthenia gravis,"[Childhood myasthenia gravis, Juvenile acquired myasthenia, Juvenile autoimmune myasthenia gravis]","Juvenile myasthenia gravis (MG; see this term) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.",,,,,,,,, +GARD:21625,Active,Orphanet,ORPHA:391504,Subtype of disorder,[Clinical subtype],Transient neonatal myasthenia gravis,"[NMG, Neonatal myasthenia gravis, Transient neonatal acquired myasthenia, Transient neonatal autoimmune myasthenia gravis]",Transient neonatal myasthenia gravis (MG) is a rare form of MG (see this term) occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.,,,,,,,,, +GARD:21626,Active,Orphanet,ORPHA:391651,Disorder,[Disease],Glomus tumor,,"A rare soft tissue tumor characterized by a nodular lesion composed of cells closely resembling the modified smooth muscle cells of the normal glomus body. The tumors most often arise in the skin or soft tissues of the distal extremities, in particular the subungual region, but have been reported in almost any location. They occur as typical glomus tumors, glomangiomatosis (multiple nodules of solid glomus tumor investing the vascular walls), symplastic (showing striking nuclear atypia without mitotic activity or necrosis) or malignant glomus tumors, and glomus tumors of uncertain malignant potential.",,,,,,,,, +GARD:21627,Active,Orphanet,ORPHA:391655,Disorder,[Particular clinical situation in a disease or syndrome],Off-periods in Parkinson disease not responding to oral treatment,,"A rare clinical situation occurring in the context of Parkinson disease characterized by return or worsening of symptoms (including motor and/or non-motor symptoms) under antiparkinsonian therapy. Types of off-periods are Morning Off (experienced before the first dose of the day), Delayed On (occurring more frequently after the first dose of the day or after meals), Wearing Off (end-of-dose deterioration), Sudden Off (sudden transition from on to off), and Dose Failure.",,,,,,,,, +GARD:21628,Active,Orphanet,ORPHA:391711,Group of disorders,[Clinical group],Persistent combined dystonia,,,,,,,,,,, +GARD:21629,Active,Orphanet,ORPHA:391723,Disorder,[Disease],Mucinous adenocarcinoma of the appendix,[Appendiceal mucinous adenocarcinoma],"Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.",,,,,,,,, +GARD:2163,Legacy,GARD,,,,,,,,,,,,Epilepsy mental deterioration Finnish type,TRUE,FALSE,Active +GARD:21630,Active,Orphanet,ORPHA:391799,Group of disorders,[Category],Rare genetic dystonia,[Rare genetic dystonic disorder],,,,,,,,,, +GARD:21631,Active,Orphanet,ORPHA:397587,Disorder,[Disease],Deep dermatophytosis,[Disseminated granulomatous dermatophytosis],"A rare mycosis characterized by severe, potentially life-threatening dermal and subcutaneous tissue invasion by dermatophytes. Dissemination to lymph nodes is frequent, but the infection may also occasionally spread to the central nervous system. Cutaneous signs and symptoms include erythema, desquamation, itching, nodules, plaques, or ulceration. The majority of deep dermatophytoses develop in immunocompromised patients.",,,,,,,,, +GARD:21632,Active,Orphanet,ORPHA:397606,Disorder,[Disease],PrP systemic amyloidosis,"[Chronic diarrhea with HSAN, Chronic diarrhea with hereditary sensory and autonomic neuropathy, Prion protein systemic amyloidosis]","A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.",,,,,,,,, +GARD:21633,Active,Orphanet,ORPHA:397695,Disorder,[Disease],3q27.3 microdeletion syndrome,[Del(3)(q27.3)],"3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.",,,,,,,,, +GARD:21634,Active,Orphanet,ORPHA:397750,Disorder,[Disease],Periodic paralysis with later-onset distal motor neuropathy,,"Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.",,,,,,,,, +GARD:21635,Active,Orphanet,ORPHA:397755,Disorder,[Disease],Periodic paralysis with transient compartment-like syndrome,,"Periodic paralysis with transient compartment-like syndrome is a rare, genetic, neuromuscular disease characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.",,,,,,,,, +GARD:21636,Active,Orphanet,ORPHA:397802,Group of disorders,[Clinical group],T+ B+ severe combined immunodeficiency,,,,,,,,,,, +GARD:21637,Active,Orphanet,ORPHA:397922,Disorder,[Disease],Ferro-cerebro-cutaneous syndrome,[Cerebro-cutaneous syndrome with iron overload],"Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.",,,,,,,,, +GARD:21638,Active,Orphanet,ORPHA:398053,Disorder,[Disease],Adenocarcinoma of the penis,[Penile adenocarcinoma],"An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelilal cells floating in lakes of extracellular, PAS-positive mucin, clinically characterized by a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor.",,,,,,,,, +GARD:21639,Active,Orphanet,ORPHA:398058,Disorder,[Disease],Squamous cell carcinoma of the penis,[Penile squamous cell carcinoma],"A rare urogenital tumor characterized by origin from squamous epithelial cells of the penis, most commonly the glans or inner surface of the prepuce. Macroscopically, the tumors can appear either papillary or flat and ulcerating. Histological subtypes include usual squamous cell carcinoma as the most common type, as well as basaloid, warty, verrucous, papillary, and mixed carcinomas. Patients may initially be asymptomatic but present with itching, bleeding, discharge, foul odor, and pain, as the disease progresses. Regional lymph node involvement is common, while distant metastases occur only late in the disease. Risk factors include HPV infection, smoking, poor hygiene, and HIV infection. Neonatal circumcision is implicated as strongly protective.",,,,,,,,, +GARD:21640,Active,Orphanet,ORPHA:398063,Disorder,[Disease],Refractory celiac disease,"[Refractory CD, Refractory sprue]","Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes.",,,,,,,,, +GARD:21641,Active,Orphanet,ORPHA:398073,Group of disorders,[Clinical group],Prader-Willi-like syndrome,[PWS-like],"Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.",,,,,,,,, +GARD:21642,Active,Orphanet,ORPHA:398079,Disorder,[Disease],SIM1-related Prader-Willi-like syndrome,[SIM1-related PWLS],,,,,,,,,, +GARD:21643,Active,Orphanet,ORPHA:398091,Group of disorders,[Category],Secondary neonatal autoimmune disease,[Transplacentally acquired neonatal autoimmune disease],,,,,,,,,, +GARD:21644,Active,Orphanet,ORPHA:398097,Disorder,[Disease],Neonatal antiphospholipid syndrome,"[Neonatal Hughes syndrome, Neonatal antiphospholipid antibody syndrome]","Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (e.g. cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations).",,,,,,,,, +GARD:21645,Active,Orphanet,ORPHA:398109,Disorder,[Disease],Neonatal autoimmune hemolytic anemia,"[Neonatal AHA, Neonatal AIHA]","Neonatal autoimmune hemolytic anemia is a very rare, secondary, neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated.",,,,,,,,, +GARD:21646,Active,Orphanet,ORPHA:398117,Disorder,[Disease],Neonatal dermatomyositis,[Neonatal DM],"Neonatal dermatomyositis is a very rare, secondary, neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.",,,,,,,,, +GARD:21647,Active,Orphanet,ORPHA:398124,Disorder,[Disease],Neonatal lupus erythematosus,,"A rare systemic autoimmune disease characterized by cutaneous lesions, hepatic dysfunction, hematological abnormalities, and/or cardiac arrhythmia, and caused by transplacental passage of maternal SS-A and SS-B autoantibodies. The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. The most severe presentation of the disease is irreversible congenital total atrioventricular block.",,,,,,,,, +GARD:21648,Active,Orphanet,ORPHA:398127,Disorder,[Disease],Neonatal scleroderma,,"Neonatal scleroderma is a very rare, secondary, neonatal autoimmune disease characterized by neonatal-onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated.",,,,,,,,, +GARD:21649,Active,Orphanet,ORPHA:398147,Disorder,[Disease],Persistent idiopathic facial pain,"[AFP, Atypical facial pain, PIFP]","A rare neurological disease characterized by a generally deep, poorly localized, persistent facial pain that does not present characteristics of a cranial neuralgia and which cannot be attributed to another disorder.",,,,,,,,, +GARD:21650,Active,Orphanet,ORPHA:398940,Group of disorders,[Category],Malignant non-epithelial tumor of ovary,"[Non-epithelial cancer of ovary, Ovarian malignant non-epithelial tumor, Ovarian non-epithelial cancer]",,,,,,,,,, +GARD:21651,Active,Orphanet,ORPHA:398961,Disorder,[Disease],Mucinous adenocarcinoma of ovary,[Ovarian mucinous adenocarcinoma],"Mucinous adenocarcinoma of ovary is a rare, malignant epithelial tumor of the ovary characterized, macroscopically, by a large, usually unilateral tumor with smooth surface and evenly distributed cystic and solid areas and, histologically, by a complex papillary growth pattern with microscopic cystic glands and necrotic debris. Patients often present with pelvic pain and pressure, abdominal mass or gastrointestinal problems such as early satiety or bloating.",,,,,,,,, +GARD:21652,Active,Orphanet,ORPHA:398971,Disorder,[Disease],Clear cell adenocarcinoma of the ovary,[Ovarian clear cell adenocarcinoma],"A rare, malignant, epithelilal ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported.",,,,,,,,, +GARD:21653,Active,Orphanet,ORPHA:398980,Disorder,[Disease],Primary peritoneal serous/papillary carcinoma,[PPSPC],,,,,,,,,, +GARD:21654,Active,Orphanet,ORPHA:398987,Disorder,[Disease],Malignant teratoma of ovary,"[Immature teratoma of ovary, Ovarian immature teratoma, Ovarian malignant teratoma]","A rare ovarian germ cell tumor characterized by a unilateral large adnexal mass containing variable amounts of immature embryonal-type tissues (mostly in the form of neuroectodermal tubules and rosettes, sometimes with a component of cellular mitotically active glia), admixed with ectodermal and endodermal elements with varying degrees of maturation. Patients typically present in their first three decades of life with signs and symptoms related to mass effect. The tumor is often associated with the occurrence of innumerable miliary nodules of mature glia in the peritoneum (gliomatosis peritonei) and abdominal lymph nodes.",,,,,,,,, +GARD:21655,Active,Orphanet,ORPHA:399081,Disorder,[Disease],KLHL9-related early-onset distal myopathy,,"KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.",,,,,,,,, +GARD:21656,Active,Orphanet,ORPHA:399103,Disorder,[Disease],Distal nebulin myopathy,[Nebulin-related early-onset distal myopathy],"Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.",,,,,,,,, +GARD:21657,Active,Orphanet,ORPHA:399158,Group of disorders,[Category],Osteonecrosis,[Bone necrosis],,,,,,,,,, +GARD:21658,Active,Orphanet,ORPHA:399164,Group of disorders,[Category],Avascular necrosis,[AVN],,,,,,,,,, +GARD:21659,Active,Orphanet,ORPHA:399169,Group of disorders,[Category],Secondary avascular necrosis,[Secondary AVN],,,,,,,,,, +GARD:2166,Active,Orphanet,ORPHA:1459,Disorder,[Disease],Celiac disease-epilepsy-cerebral calcification syndrome,[CEC],"Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.",[226810],,,,,Epilepsy occipital calcifications,TRUE,FALSE,Active +GARD:21660,Active,Orphanet,ORPHA:399175,Disorder,[Disease],Traumatic avascular necrosis,[Traumatic AVN],,,,,,,,,, +GARD:21661,Active,Orphanet,ORPHA:399180,Disorder,[Disease],Secondary non-traumatic avascular necrosis,"[Secondary non-traumatic AVN, Secondary non-traumatic osteonecrosis]","A rare osteonecrosis disease characterized by death of bone cellular components secondary to an interruption of the subchondral blood supply, typically manifesting with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease, amongst others, has been observed.",,,,,,,,, +GARD:21662,Active,Orphanet,ORPHA:399185,Group of disorders,[Category],Rare hereditary disease with avascular necrosis,,,,,,,,,,, +GARD:21663,Active,Orphanet,ORPHA:399293,Disorder,[Disease],Osteonecrosis of the jaw,,"A rare osteonecrosis characterized by an exposed necrotic lesion in the mandible or maxilla present for more than eight weeks, arising as a complication of antiresorptive medication, dental interventions, or trauma and infections. Patients may present with pain, altered neurosensory functions, secondary infections, and (in advanced stages) pathological fractures, or fistulae.",,,,,,,,, +GARD:21664,Active,Orphanet,ORPHA:399302,Group of disorders,[Clinical group],Primary avascular necrosis,[Primary AVN],,,,,,,,,, +GARD:21665,Active,Orphanet,ORPHA:399307,Disorder,[Disease],Idiopathic avascular necrosis,[Idiopathic AVN],"A rare osteonecrosis characterized by bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus, and scaphoid, among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling, and reduced range of motion. If left untreated, the condition may progress to bone collapse with secondary degeneration, fragmentation, and pathological fracture, as well as osteoarthritis.",,,,,,,,, +GARD:21666,Active,Orphanet,ORPHA:399329,Disorder,[Disease],Epiphysiolysis of the hip,"[Epiphysiolysis of the upper femur, Femoral head epiphysiolysis, SCFE, SUFE, Slipped capital femoral epiphysis, Slipped upper femoral epiphysis]","Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).",,,,,,,,, +GARD:21667,Active,Orphanet,ORPHA:399380,Group of disorders,[Category],Osteonecrosis of genetic origin,[Bone necrosis of genetic origin],,,,,,,,,, +GARD:21668,Active,Orphanet,ORPHA:399388,Group of disorders,[Category],Avascular necrosis of genetic origin,,,,,,,,,,, +GARD:21669,Active,Orphanet,ORPHA:399391,Group of disorders,[Category],Osteochondrosis of genetic origin,,,,,,,,,,, +GARD:2167,Active,Orphanet,ORPHA:263516,Subtype of disorder,[Clinical subtype],Progressive myoclonic epilepsy type 3,"[CLN14 disease, EPM3, PME type 3, Progressive myoclonic epilepsy due to KCTD7 deficiency, Progressive myoclonus epilepsy type 3]","A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.",[611726],,,,,Epilepsy progressive myoclonic type 3,TRUE,FALSE,Active +GARD:21670,Active,Orphanet,ORPHA:399572,Group of disorders,[Category],Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder,"[Rare male infertility due to gonadotropic axis disorder, Rare male infertility due to hypothalamic-pituitary-testicular axis disorder]",,,,,,,,,, +GARD:21671,Active,Orphanet,ORPHA:399584,Group of disorders,[Category],Rare male infertility due to adrenal disorder,,,,,,,,,,, +GARD:21672,Active,Orphanet,ORPHA:399685,Group of disorders,[Category],Rare male infertility due to testicular endocrine disorder,,,,,,,,,,, +GARD:21673,Active,Orphanet,ORPHA:399764,Group of disorders,[Category],Male infertility due to gonadal dysgenesis or sperm disorder,[Male infertility due to testicular dysgenesis or sperm disorder],,,,,,,,,, +GARD:21674,Active,Orphanet,ORPHA:399771,Group of disorders,[Category],Male infertility due to sperm disorder,,,,,,,,,,, +GARD:21675,Active,Orphanet,ORPHA:399775,Group of disorders,[Category],Male infertility with spermatogenesis disorder,,,,,,,,,,, +GARD:21676,Active,Orphanet,ORPHA:399813,Group of disorders,[Category],Male infertility due to sperm motility disorder,[Male infertility due to asthenozoospermia],,,,,,,,,, +GARD:21677,Active,Orphanet,ORPHA:399824,Group of disorders,[Category],Rare disorder with obstructive azoospermia,[Rare disorder due to impaired sperm transport],,,,,,,,,, +GARD:21678,Active,Orphanet,ORPHA:399831,Group of disorders,[Category],Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder,"[Rare female infertility due to gonadotropic axis disorder, Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder]",,,,,,,,,, +GARD:21679,Active,Orphanet,ORPHA:399839,Group of disorders,[Category],Rare female infertility due to a congenital hypogonadotropic hypogonadism,,,,,,,,,,, +GARD:2168,Active,Orphanet,ORPHA:1951,Disorder,[Disease],Epilepsy-telangiectasia syndrome,,"A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.",[226850],,,,,Epilepsy telangiectasia,TRUE,FALSE,Active +GARD:21680,Active,Orphanet,ORPHA:399846,Group of disorders,[Category],Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism,,,,,,,,,,, +GARD:21681,Active,Orphanet,ORPHA:399849,Group of disorders,[Category],Rare female infertility due to an adrenal disorder,,,,,,,,,,, +GARD:21682,Active,Orphanet,ORPHA:399853,Group of disorders,[Category],Rare female infertility due to an anomaly of ovarian function,,,,,,,,,,, +GARD:21683,Active,Orphanet,ORPHA:399877,Group of disorders,[Category],Rare female infertility due to gonadal dysgenesis,[Rare female infertility due to ovarian dysgenesis],,,,,,,,,, +GARD:21684,Active,Orphanet,ORPHA:399882,Group of disorders,[Category],Rare female infertility due to an implantation defect,,,,,,,,,,, +GARD:21685,Active,Orphanet,ORPHA:399980,Group of disorders,[Category],Rare genetic male infertility,,,,,,,,,,, +GARD:21686,Active,Orphanet,ORPHA:399983,Group of disorders,[Category],Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin,"[Rare male infertility due to gonadotropic axis disorder of genetic origin, Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin]",,,,,,,,,, +GARD:21687,Active,Orphanet,ORPHA:399994,Group of disorders,[Category],Rare male infertility due to adrenal disorder of genetic origin,,,,,,,,,,, +GARD:21688,Active,Orphanet,ORPHA:399998,Group of disorders,[Category],Male infertility due to obstructive azoospermia of genetic origin,[Male infertility due to impaired sperm transport of genetic origin],,,,,,,,,, +GARD:21689,Active,Orphanet,ORPHA:400003,Group of disorders,[Category],Rare genetic disorder with obstructive azoospermia,[Rare genetic disorder due to impaired sperm transport],,,,,,,,,, +GARD:2169,Active,Orphanet,ORPHA:1942,Disorder,[Disease],Myoclonic-astatic epilepsy,"[Doose syndrome, EMAS, Epilepsy with myoclonic-astatic seizures, Epilepsy with myoclonic-atonic seizures, MAE, Myoclonic atonic epilepsy, Myoclonic-astatic epilepsy in early childhood]","A rare, childhood onset epilepsy syndrome characterized by multiple seizure types including myoclonic-atonic (MA) seizures that occur usually in previously healthy children.","[618587, 616421, 615369]",,,,,Epilepsy with myoclonic-atonic seizures,TRUE,FALSE,Active +GARD:21690,Active,Orphanet,ORPHA:400008,Group of disorders,[Category],Rare genetic female infertility,,,,,,,,,,, +GARD:21691,Active,Orphanet,ORPHA:400011,Group of disorders,[Category],Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin,"[Rare female infertility due to gonadotropic axis disorder of genetic origin, Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin]",,,,,,,,,, +GARD:21692,Active,Orphanet,ORPHA:400018,Group of disorders,[Category],Rare female infertility due to adrenal disorder of genetic origin,,,,,,,,,,, +GARD:21693,Active,Orphanet,ORPHA:400022,Group of disorders,[Category],Rare female infertility due to an anomaly of ovarian function of genetic origin,,,,,,,,,,, +GARD:21694,Active,Orphanet,ORPHA:400025,Group of disorders,[Category],Female infertility due to an implantation defect of genetic origin,,,,,,,,,,, +GARD:21695,Active,Orphanet,ORPHA:401795,Disorder,[Disease],Autosomal recessive spastic paraplegia type 59,[SPG59],"Autosomal recessive spastic paraplegia type 59 is a very rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.",,,,,,,,, +GARD:21696,Active,Orphanet,ORPHA:401800,Disorder,[Disease],Autosomal recessive spastic paraplegia type 60,[SPG60],"Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.",,,,,,,,, +GARD:21697,Active,Orphanet,ORPHA:401815,Disorder,[Disease],Autosomal recessive spastic paraplegia type 66,[SPG66],"Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.",,,,,,,,, +GARD:21698,Active,Orphanet,ORPHA:401820,Disorder,[Disease],Autosomal recessive spastic paraplegia type 67,[SPG67],"Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.",,,,,,,,, +GARD:21699,Active,Orphanet,ORPHA:401830,Disorder,[Disease],Autosomal recessive spastic paraplegia type 69,[SPG69],"Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.",,,,,,,,, +GARD:217,Legacy,GARD,,,,,,,,,,,,Roy Maroteaux Kremp syndrome,TRUE,FALSE,Active +GARD:2170,Active,Orphanet,ORPHA:25968,Disorder,[Disease],Benign occipital epilepsy,,"Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.",[132090],,,,,"Epilepsy, benign occipital",TRUE,FALSE,Active +GARD:21700,Active,Orphanet,ORPHA:401835,Disorder,[Disease],Autosomal recessive spastic paraplegia type 70,[SPG70],"Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.",,,,,,,,, +GARD:21701,Active,Orphanet,ORPHA:401840,Disorder,[Disease],Autosomal recessive spastic paraplegia type 71,[SPG71],"Autosomal recessive spastic paraplegia type 71 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.",,,,,,,,, +GARD:21702,Active,Orphanet,ORPHA:401901,Disorder,[Disease],Huntington disease-like syndrome due to C9ORF72 expansions,"[C9ORF72-related Huntington disease phenocopy, C9ORF72-related Huntington disease-like syndrome, Huntington disease phenocopy due to C9ORF72 expansions]","Huntington disease-like syndrome due to C9ORF72 expansions is a rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.",,,,,,,,, +GARD:21703,Active,Orphanet,ORPHA:401911,Subtype of disorder,[Clinical subtype],AXIN2-related attenuated familial adenomatous polyposis,"[AXIN2-related AFAP, AXIN2-related attenuated FAP, AXIN2-related attenuated familial polyposis coli]",,,,,,,,,, +GARD:21704,Active,Orphanet,ORPHA:401920,Disorder,[Disease],Fibrolamellar hepatocellular carcinoma,"[FHCC, Fibrolamellar hepatocarcinoma]","A rare variant of hepatocellular carcinoma (HCC) presenting in adolescents or young adults with no underlying liver disease. Clinical presentation is non specific, with abdominal mass, abdominal discomfort or pain, fatigue and weight loss. Patients can also be asymptomatic. HCC markers (alpha fetoprotein) are normal. Fibrolamellar HCC presents as a unique, well-delimited mass at imagery and a biopsy confirms the diagnosis, showing well-differentiated tumor cells surrounded by thick collagen bands.",,,,,,,,, +GARD:21705,Active,Orphanet,ORPHA:401923,Disorder,[Malformation syndrome],9q31.1q31.3 microdeletion syndrome,"[Del(9)(q31.1q31.3), Monosomy 9q31.1q31.3]","9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.",,,,,,,,, +GARD:21706,Active,Orphanet,ORPHA:401935,Disorder,[Malformation syndrome],14q24.1q24.3 microdeletion syndrome,"[Del(14)(q24.1q24.3), Monosomy 14q24.1q24.3]","14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.",,,,,,,,, +GARD:21707,Active,Orphanet,ORPHA:401959,Disorder,[Malformation syndrome],Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,,"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.",,,,,,,,, +GARD:21708,Active,Orphanet,ORPHA:401993,Group of disorders,[Clinical group],Cold-induced sweating syndrome-hyperthermia spectrum,,,,,,,,,,, +GARD:21709,Active,Orphanet,ORPHA:402007,Group of disorders,[Clinical group],Lichen myxedematosus,,,,,,,,,,, +GARD:21710,Active,Orphanet,ORPHA:402014,Disorder,[Disease],Acute myeloid leukemia with t(6;9)(p23;q34),[AML with t(6;9)(p23;q34)],"A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.",,,,,,,,, +GARD:21711,Active,Orphanet,ORPHA:402017,Disorder,[Disease],Acute myeloid leukemia with t(9;11)(p22;q23),[AML with t(9;11)(p22;q23)],"A tumor of hematopoietic and lymphoid tissues characterized by the most common AML-causing MLL translocation, resulting in the MLL-MLLT3-fusion protein. It can occur either as a primary neoplasm or secondary to previous chemo-/radiation therapy. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs and include leukocytosis, anemia, thrombocytopenia, fever, bone pain, fatigue, pallor, easy bruising and frequent bleeding.",,,,,,,,, +GARD:21712,Active,Orphanet,ORPHA:402023,Disorder,[Disease],Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13),[Megakaryoblastic AML with t(1;22)(p13;q13)],"Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.",,,,,,,,, +GARD:21713,Active,Orphanet,ORPHA:402026,Disorder,[Disease],Acute myeloid leukemia with NPM1 somatic mutations,[AML with NPM1 somatic mutations],"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages.",,,,,,,,, +GARD:21714,Active,Orphanet,ORPHA:402029,Group of disorders,[Clinical group],Primary eosinophilic gastrointestinal disease,[EGID],,,,,,,,,, +GARD:21715,Active,Orphanet,ORPHA:402035,Disorder,[Disease],Eosinophilic colitis,,"A rare gastroenterologic disease characterized by extensive eosinophilic infiltration of the colon in the absence of any known cause of secondary intestinal eosinophilia. Patients present with abdominal pain, nausea, vomiting, diarrhea, gastrointestinal bleeding, malabsorption, and/or weight loss. Symptoms do not correlate with the extent of the disease, which can be segmental or pancolonic. Blood testing may show peripheral eosinophilia. The condition has a bimodal age distribution, with a first peak in neonates and a second peak in young adulthood.",,,,,,,,, +GARD:21716,Active,Orphanet,ORPHA:402823,Disorder,[Disease],Hepatitis delta,"[HDV, Hepatitis D virus]","Hepatitis delta is a rare hepatic disease characterized by variable degrees of acute hepatitis resulting from infection with the hepatitis delta virus. Occasionally it may present a benign course, but most frequently it manifests with severe liver disease that may include fulminant liver failure, hepatic decompensation and rapid progression to cirrhosis. All patients present concomitant hepatitis B virus infection and an increased risk of developing hepatocellular carcinoma has been reported.",,,,,,,,, +GARD:21717,Active,Orphanet,ORPHA:404451,Disorder,[Malformation syndrome],FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,,"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.",,,,,,,,, +GARD:21718,Active,Orphanet,ORPHA:404469,Group of disorders,[Category],Rare female infertility due to oocyte maturation defect,,,,,,,,,,, +GARD:21719,Active,Orphanet,ORPHA:404481,Group of disorders,[Clinical group],Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome,,,,,,,,,,, +GARD:2172,Legacy,GARD,,,,,,,,,,,,"Epilepsy, nocturnal, frontal lobe type",TRUE,FALSE,Retired +GARD:21720,Active,Orphanet,ORPHA:404507,Disorder,[Disease],Chondromyxoid fibroma,,"A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common presenting symptom. Prognosis is excellent even in cases with local recurrence.",,,,,,,,, +GARD:21721,Active,Orphanet,ORPHA:404511,Subtype of disorder,[Histopathological subtype],Clear cell papillary renal cell carcinoma,,"Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.",,,,,,,,, +GARD:21722,Active,Orphanet,ORPHA:404514,Disorder,[Disease],Acquired cystic disease-associated renal cell carcinoma,,"A rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.",,,,,,,,, +GARD:21723,Active,Orphanet,ORPHA:404521,Disorder,[Disease],Spinal muscular atrophy with respiratory distress type 2,"[Diaphragmatic spinal muscular atrophy type 2, SMARD2, Severe infantile axonal neuropathy with respiratory failure type 2, X-linked spinal muscular atrophy with respiratory distress]","Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.",,,,,,,,, +GARD:21724,Active,Orphanet,ORPHA:404538,Group of disorders,[Category],X-linked distal hereditary motor neuropathy,"[X-linked dHMN, X-linked distal spinal muscular atrophy]",,,,,,,,,, +GARD:21725,Active,Orphanet,ORPHA:404568,Group of disorders,[Category],Dysostosis of genetic origin,,,,,,,,,,, +GARD:21726,Active,Orphanet,ORPHA:404571,Group of disorders,[Category],Dysostosis of genetic origin with limb anomaly as a major feature,,,,,,,,,,, +GARD:21727,Active,Orphanet,ORPHA:404574,Group of disorders,[Category],Genetic syndrome with limb reduction defects,,,,,,,,,,, +GARD:21728,Active,Orphanet,ORPHA:404577,Group of disorders,[Category],Genetic syndrome with limb malformations as a major feature,,,,,,,,,,, +GARD:21729,Active,Orphanet,ORPHA:404580,Group of disorders,[Clinical group],Polyarticular juvenile idiopathic arthritis,"[Juvenile polyarthritis, Juvenile polyarticular arthritis, Polyarticular JIA]","A rare type of juvenile idiopathic arthritis characterized by arthritis with an onset prior to the age of 16 years persisting for longer than six weeks and affecting at least five joints during the first six months of the disease. Other possible causes of joint inflammation must be excluded. Two subgroups of the disease can be distinguished, based on the presence of absence of rheumatoid factor. Both subgroups are more common in girls and may be associated with mild fever, weight loss, anemia, moderate hepatosplenomegaly, and mild growth retardation.",,,,,,,,, +GARD:2173,Active,Orphanet,ORPHA:309,Group of disorders,[Clinical group],Familial partial epilepsy,,,,,,,,"Epilepsy, partial, familial",TRUE,FALSE,Active +GARD:21730,Active,Orphanet,ORPHA:404584,Group of disorders,[Category],Rare genetic bone development disorder,[Rare genetic skeletal development disorder],,,,,,,,,, +GARD:21731,Active,Orphanet,ORPHA:411501,Disorder,[Morphological anomaly],Williams-Campbell syndrome,,"A rare, respiratory malformation characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi, leading to distal airway collapse and contributing to the formation of bronchiectasis. The defect is mostly present between the fourth and sixth order bronchial divisions. Clinical manifestation includes recurrent pneumonia, coughing and wheezing.",,,,,,,,, +GARD:21732,Active,Orphanet,ORPHA:411511,Subtype of disorder,[Etiological subtype],Angelman syndrome due to a point mutation,,,,,,,,,,, +GARD:21733,Active,Orphanet,ORPHA:411515,Subtype of disorder,[Etiological subtype],Angelman syndrome due to imprinting defect in 15q11-q13,,,,,,,,,,, +GARD:21734,Active,Orphanet,ORPHA:411527,Disorder,[Particular clinical situation in a disease or syndrome],Central retinal vein occlusion,[CRVO],"A rare retinal vasculopathy characterized by impaired venous return from the retinal circulation due to an occlusion occurring within or posterior to the optic nerve head. The clinical presentation is variable and may range from asymptomatic to an abrupt and profound loss of vision. Complications causing visual loss include macular edema, macular ischemia, optic neuropathy, vitreous hemorrhage, tractional retinal detachment, and in more severe cases extensive capillary non-perfusion with a high risk of neovascular glaucoma.",,,,,,,,, +GARD:21735,Active,Orphanet,ORPHA:411696,Disorder,[Disease],Proton-pump inhibitor-responsive esophageal eosinophilia,"[PPI-REE, PPI-responsive esophageal eosinophilia, PPIRee]","Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.",,,,,,,,, +GARD:21736,Active,Orphanet,ORPHA:411777,Disorder,[Disease],Generalized eruptive keratoacanthoma,"[GEKA, Generalized eruptive keratoacanthomas of Grzybowski, Grzybowski syndrome]","Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.",,,,,,,,, +GARD:21737,Active,Orphanet,ORPHA:412035,Disorder,[Malformation syndrome],13q12.3 microdeletion syndrome,"[Del(13)(q12.3), Monosomy 13q12.3]","13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.",,,,,,,,, +GARD:21738,Active,Orphanet,ORPHA:412066,Disorder,[Disease],PRKAR1B-related neurodegenerative dementia with intermediate filaments,,"PRKAR1B-related neurodegenerative dementia with intermediate filaments is a rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.",,,,,,,,, +GARD:21739,Active,Orphanet,ORPHA:412217,Disorder,[Disease],Dystonia-aphonia syndrome,,"Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment.",,,,,,,,, +GARD:21740,Active,Orphanet,ORPHA:414726,Group of disorders,[Category],Genetic facial cleft,[Genetic craniofacial cleft],,,,,,,,,, +GARD:21741,Active,Orphanet,ORPHA:418945,Disorder,[Disease],"Carcinoma of esophagus, salivary gland type","[Esophageal carcinoma, salivary gland type]","A rare gastroesophageal tumor characterized by a typically submucosal tumor occurring usually in the middle to distal esophagus and histologically characterized as either mucoepidermoid (intimate mixture of mucus, intermediate, and epidermoid cells) or as adenoid cystic carcinoma (biphasic admixture of duct‐lining epithelial and myoepithelial cells with tubular, cribriform, solid, or basaloid growth patterns). Patients may be asymptomatic or may present with progressive dysphagia, heartburn, retrosternal pain and/or weight loss.",,,,,,,,, +GARD:21742,Active,Orphanet,ORPHA:418951,Disorder,[Disease],Undifferentiated carcinoma of esophagus,[Undifferentiated esophageal carcinoma],"A rare, aggressive, malignant, epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and, histologically, by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastroesophageal reflux, weight loss, anemia, abdominal or chest pain/pressure, dyspnea, and/or hematemesis. Presence or history of Barrett esophagus is frequently associated.",,,,,,,,, +GARD:21743,Active,Orphanet,ORPHA:418959,Disorder,[Disease],Squamous cell carcinoma of the stomach,[Gastric squamous cell carcinoma],"A rare epithelial tumour of stomach, defined histopathologically as keratinizing cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges, and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without esophageal involvement. It is characterized by preferential location in the upper third of the stomach, high probability of lymphovascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melena or hematochezia, haematemesis and weight loss.",,,,,,,,, +GARD:21744,Active,Orphanet,ORPHA:420259,Disorder,[Disease],Secondary pulmonary alveolar proteinosis,[Secondary PAP],"A rare, acquired, interstitial lung disease, characterized by alveolar surfactant accumulation, cough, progressive dyspnea and respiratory insufficiency. The disease may be secondary to hematological disorder, toxic inhalation, and infection or may occur within the setting of immunosuppression after transplantation.",,,,,,,,, +GARD:21745,Active,Orphanet,ORPHA:420402,Disorder,[Clinical syndrome],Semicircular canal dehiscence syndrome,[SCD syndrome],"A rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.",,,,,,,,, +GARD:21746,Active,Orphanet,ORPHA:420429,Subtype of disorder,[Clinical subtype],"Glycogen storage disease due to acid maltase deficiency, late-onset","[Alpha-1,4-glucosidase acid deficiency, late-onset, GSD due to acid maltase deficiency, late-onset, GSD type 2, late-onset, GSD type II, late-onset, Glycogen storage disease type 2, late-onset, Glycogen storage disease type II, late-onset, Glycogenosis type 2, late-onset, Glycogenosis type II, late-onset, Pompe disease, late-onset]","A form of glycogen storage disease due to acid maltase deficiency, a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, that is characterized by an accumulation of glycogen in lysosomes.",,,,,,,,, +GARD:21747,Active,Orphanet,ORPHA:420699,Disorder,[Disease],Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,,"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.",,,,,,,,, +GARD:21748,Active,Orphanet,ORPHA:420755,Group of disorders,[Category],Rare genetic odontal or periodontal disorder,,,,,,,,,,, +GARD:21749,Active,Orphanet,ORPHA:420789,Disorder,[Disease],Autoimmune encephalopathy with parasomnia and obstructive sleep apnea,"[Anti-IgLON5 disease, Anti-IgLON5 syndrome]","A rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.",,,,,,,,, +GARD:2175,Legacy,GARD,,,,,,,,,,,,Epimetaphyseal dysplasia cataract,TRUE,FALSE,Active +GARD:21750,Active,Orphanet,ORPHA:420794,Disorder,[Malformation syndrome],Cono-spondylar dysplasia,[Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome],"Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.",,,,,,,,, +GARD:21751,Active,Orphanet,ORPHA:423306,Disorder,[Malformation syndrome],Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,,"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.",,,,,,,,, +GARD:21752,Active,Orphanet,ORPHA:423479,Disorder,[Disease],X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome,,"X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.",,,,,,,,, +GARD:21753,Active,Orphanet,ORPHA:423655,Group of disorders,[Clinical group],ARX-related encephalopathy-brain malformation spectrum,,,,,,,,,,, +GARD:21754,Active,Orphanet,ORPHA:423662,Group of disorders,[Category],Rare autonomic nervous system disorder,,,,,,,,,,, +GARD:21755,Active,Orphanet,ORPHA:423693,Subtype of disorder,[Clinical subtype],Double outlet right ventricle with subaortic or doubly committed ventricular septal defect,[DORV with subaortic or doubly committed VSD],,,,,,,,,, +GARD:21756,Active,Orphanet,ORPHA:423712,Subtype of disorder,[Clinical subtype],"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy","[DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy]",,,,,,,,,, +GARD:21757,Active,Orphanet,ORPHA:423771,Group of disorders,[Category],Rare carcinoma of stomach,[Rare gastric carcinoma],,,,,,,,,, +GARD:21758,Active,Orphanet,ORPHA:423776,Group of disorders,[Category],Hereditary gastric cancer,[Hereditary cancer of stomach],"Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach (see these terms) and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome (see these terms).",,,,,,,,, +GARD:21759,Active,Orphanet,ORPHA:423786,Disorder,[Disease],Undifferentiated carcinoma of stomach,[Undifferentiated gastric carcinoma],"Undifferentiated carcinoma of stomach is a rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread.",,,,,,,,, +GARD:2176,Legacy,GARD,,,,,,,,,,,,Epimetaphyseal skeletal dysplasia,TRUE,FALSE,Retired +GARD:21760,Active,Orphanet,ORPHA:423793,Group of disorders,[Category],Rare tumor of small intestine,[Rare tumor of small bowel],,,,,,,,,, +GARD:21761,Active,Orphanet,ORPHA:423798,Group of disorders,[Category],Mesenchymal tumor of small intestine,[Mesenchymal tumor of small bowel],,,,,,,,,, +GARD:21762,Active,Orphanet,ORPHA:423894,Disorder,[Disease],Microcephaly-complex motor and sensory axonal neuropathy syndrome,,"Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.",,,,,,,,, +GARD:21763,Active,Orphanet,ORPHA:423957,Group of disorders,[Category],Rare carcinoma of small intestine,[Rare carcinoma of small bowel],,,,,,,,,, +GARD:21764,Active,Orphanet,ORPHA:423968,Disorder,[Disease],Squamous cell carcinoma of the small intestine,[Squamous cell carcinoma of the small bowel],"Squamous cell carcinoma of the small intestine is an extremely rare, malignant, epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases.",,,,,,,,, +GARD:21765,Active,Orphanet,ORPHA:423975,Group of disorders,[Category],Neuroendocrine tumor of the small intestine,"[NET of the small intestine, Neuroendocrine neoplasm of the small intestine, Neuroendocrine tumor of small bowel]",,,,,,,,,, +GARD:21766,Active,Orphanet,ORPHA:423982,Group of disorders,[Category],Epithelial tumor of the appendix,[Appendiceal epithelial tumor],,,,,,,,,, +GARD:21767,Active,Orphanet,ORPHA:423991,Group of disorders,[Category],Rare epithelial tumor of colon,,,,,,,,,,, +GARD:21768,Active,Orphanet,ORPHA:423994,Disorder,[Disease],Squamous cell carcinoma of the colon,,"A rare epithelial tumour of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal squamous cell carcinoma. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, hematochesia or melena. Cases of severe, symptomatic hypercalcemia have been reported.",,,,,,,,, +GARD:21769,Active,Orphanet,ORPHA:423998,Group of disorders,[Category],Rare epithelial tumor of rectum,[Rare rectal epithelial tumor],,,,,,,,,, +GARD:2177,Legacy,GARD,,,,,,,,,,,,Epiphyseal dysplasia dysmorphism camptodactyly,TRUE,FALSE,Active +GARD:21770,Active,Orphanet,ORPHA:424002,Disorder,[Disease],Squamous cell carcinoma of the rectum,[Rectal squamous cell carcinoma],"A rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of SCC of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits.",,,,,,,,, +GARD:21771,Active,Orphanet,ORPHA:424010,Group of disorders,[Category],Epithelial tumor of anal canal,,,,,,,,,,, +GARD:21772,Active,Orphanet,ORPHA:424013,Group of disorders,[Clinical group],Carcinoma of the anal canal,,,,,,,,,,, +GARD:21773,Active,Orphanet,ORPHA:424016,Disorder,[Disease],Adenocarcinoma of the anal canal,,"A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread.",,,,,,,,, +GARD:21774,Active,Orphanet,ORPHA:424019,Disorder,[Disease],Squamous cell carcinoma of the anal canal,,"Squamous cell carcinoma of the anal canal is a rare epithelial intestinal neoplasm, arising from squamous epithelial cells in the anal canal, with variable macroscopic appearance, ranging from small, benign lesions (that mimick fissures, hemorrhoids or anorectal fistulae) to a large, exophytic or ulcerating tumor localized within the anal canal. Patients may be asymptomatic or present difficulty to defecate, anal bleeding, pain and/or discharge, and often have a history of chronic anal fistulae and abscesses, Crohn's disease, hemorrhoids, or, especially in younger patients, immunosuppression (such as HIV infection). Association with HPV infection is commonly reported.",,,,,,,,, +GARD:21775,Active,Orphanet,ORPHA:424033,Group of disorders,[Category],Rare epithelial tumor of pancreas,[Rare pancreatic epithelial tumor],,,,,,,,,, +GARD:21776,Active,Orphanet,ORPHA:424039,Disorder,[Disease],Squamous cell carcinoma of pancreas,[Pancreatic squamous cell carcinoma],"A rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lymphovascular and perineural invasion, as well as high metastatic potential. Patients present with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice.",,,,,,,,, +GARD:21777,Active,Orphanet,ORPHA:424046,Disorder,[Disease],Acinar cell carcinoma of pancreas,[Pancreatic acinar cell carcinoma],"A very rare, malignant, epithelial tumor of the pancreas characterized, macroscopically, by a usually large, well-circumscribed, fully or partially encapsulated, solid mass, often with hemorrhage, necrosis and cystic changes, in any portion of the pancreas and, histologically, by neoplastic cells with variable degrees of differentiation and morphology, ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or, less commonly, jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported.",,,,,,,,, +GARD:21778,Active,Orphanet,ORPHA:424053,Disorder,[Disease],Mucinous cystadenocarcinoma of the pancreas,[Pancreatic mucinous cystadenocarcinoma],"A rare, epithelial tumor of the pancreas characterized, histologically, by columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (<3 cm) are usually asymptomatic, while large tumors typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, hemobilia and diabetes mellitus.",,,,,,,,, +GARD:21779,Active,Orphanet,ORPHA:424058,Disorder,[Disease],Intraductal papillary mucinous carcinoma of pancreas,"[IPMN, Pancreatic intraductal papillary mucinous carcinoma]","Intraductal papillary mucinous carcinoma of pancreas is a rare epithelial tumor of pancreas characterized by malignant, mucin-producing cystic mass, originating from the pancreatic ductal system, associated with local invasion and metastatic spread, composed of mucin-producing, columnar epithelial cells covering the dilated pancreatic ducts with a papillary structure. The presenting symptoms are non-specific and include abdominal pain, pancreatitis, steatorrhea, jaundice and diabetes. Many patients are asymptomatic at the time of diagnosis.",,,,,,,,, +GARD:2178,Active,Orphanet,ORPHA:1825,Disorder,[Malformation syndrome],Epiphyseal dysplasia-hearing loss-dysmorphism syndrome,"[Epiphyseal dysplasia-deafness-dysmorphism syndrome, Finucane-Kurtz-Scott syndrome]","Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.",,,,,,Epiphyseal dysplasia hearing loss dysmorphism,TRUE,FALSE,Active +GARD:21780,Active,Orphanet,ORPHA:424065,Disorder,[Disease],Solid pseudopapillary carcinoma of pancreas,"[Pancreatic solid pseudopapillary carcinoma, Solid pseudopapillary neoplasm of the pancreas]","A rare carcinoma of the pancreas characterized by a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting, and weight loss. One-third of the patients are asymptomatic. The tumor has low malignant potential, but can invade locally.",,,,,,,,, +GARD:21781,Active,Orphanet,ORPHA:424073,Disorder,[Disease],Serous cystadenocarcinoma of pancreas,[Pancreatic serous cystadenocarcinoma],"A very rare, malignant, epithelial tumor of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usually non-specific and include abdominal and/or flank pain, palpable abdominal mass, upper gastrointestinal bleeding, jaundice or abnormal serum liver enzymes, vomiting, anorexia and/or weight loss.",,,,,,,,, +GARD:21782,Active,Orphanet,ORPHA:424080,Disorder,[Disease],Osteoclastic giant cell tumor of pancreas,"[OGCT of pancreas, Pancreatic osteoclastic giant cell tumor, Pancreatic undifferentiated carcinoma with osteoclast-like giant cells, Undifferentiated carcinoma of pancreas with osteoclast-like giant cells]",,,,,,,,,, +GARD:21783,Active,Orphanet,ORPHA:424107,Disorder,[Disease],Congenital myopathy with myasthenic-like onset,,"Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.",,,,,,,,, +GARD:21784,Active,Orphanet,ORPHA:424925,Group of disorders,[Category],Qualitative or quantitative defects of Torsin-1A-interacting protein 1,,,,,,,,,,, +GARD:21785,Active,Orphanet,ORPHA:424933,Group of disorders,[Category],Rare malignant epithelial tumor of liver and intrahepatic biliary tract,[Rare malignant epithelial tumor of liver and IBT],,,,,,,,,, +GARD:21786,Active,Orphanet,ORPHA:424936,Group of disorders,[Category],Carcinoma of liver and intrahepatic biliary tract,[Carcinoma of liver and IBT],,,,,,,,,, +GARD:21787,Active,Orphanet,ORPHA:424943,Disorder,[Disease],Adenocarcinoma of the liver and intrahepatic biliary tract,[Adenocarcinoma of the liver and IBT],"A very rare hepatic and biliary tract tumor characterized by a growth pattern ressembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes.",,,,,,,,, +GARD:21788,Active,Orphanet,ORPHA:424970,Disorder,[Disease],Undifferentiated carcinoma of liver and intrahepatic biliary tract,[Undifferentiated carcinoma of liver and IBT],"Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated.",,,,,,,,, +GARD:21789,Active,Orphanet,ORPHA:424975,Disorder,[Disease],Squamous cell carcinoma of liver and intrahepatic biliary tract,[Squamous cell carcinoma of liver and IBT],"Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.",,,,,,,,, +GARD:21790,Active,Orphanet,ORPHA:424982,Disorder,[Disease],Biliary cystadenocarcinoma,[Intrahepatic bile duct cystadenocarcinoma],,,,,,,,,, +GARD:21791,Active,Orphanet,ORPHA:424991,Disorder,[Disease],Adenocarcinoma of the gallbladder and extrahepatic biliary tract,[Adenocarcinoma of the gallbladder and EBT],"A rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.",,,,,,,,, +GARD:21792,Active,Orphanet,ORPHA:424996,Disorder,[Disease],Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,[Squamous cell carcinoma of gallblader and EBT],"A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.",,,,,,,,, +GARD:21793,Active,Orphanet,ORPHA:425003,Group of disorders,[Category],Inherited digestive cancer-predisposing syndrome,,,,,,,,,,, +GARD:21794,Active,Orphanet,ORPHA:425368,Group of disorders,[Category],Rare epithelial tumor of small intestine,[Rare epithelial tumor of small bowel],,,,,,,,,, +GARD:21795,Active,Orphanet,ORPHA:431156,Group of disorders,[Category],Primary immunodeficiency with predisposition to severe viral infection,,,,,,,,,,, +GARD:21796,Active,Orphanet,ORPHA:431263,Group of disorders,[Clinical group],Late-onset scapuloperoneal muscular dystrophy with hyaline bodies,"[Late-onset SPMD with hyaline bodies, Late-onset scapuloperoneal syndrome, myopathic type]",,,,,,,,,, +GARD:21797,Active,Orphanet,ORPHA:431320,Group of disorders,[Clinical group],Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder,[SPOAN and SPOAN-related disorder],"A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.",,,,,,,,, +GARD:21798,Active,Orphanet,ORPHA:431341,Disorder,[Morphological anomaly],Patent urachus,,"Patent urachus is a type of congenital urachal anomaly (see this term) characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.",,,,,,,,, +GARD:21799,Active,Orphanet,ORPHA:431344,Disorder,[Morphological anomaly],Urachal sinus,,"Urachal sinus is a type of congenital urachal anomaly (see this term) resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.",,,,,,,,, +GARD:218,Active,Orphanet,ORPHA:3111,Disorder,[Disease],Rotor syndrome,"[Hyperbilirubinemia, Rotor type]","A benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.",[237450],,,,,Rotor syndrome,TRUE,FALSE,Active +GARD:2180,Active,Orphanet,ORPHA:93308,Disorder,[Disease],Multiple epiphyseal dysplasia type 1,"[EDM1, MED1, Polyepiphyseal dysplasia type 1]","Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.",[132400],,,,,Multiple epiphyseal dysplasia 1,TRUE,FALSE,Active +GARD:21800,Active,Orphanet,ORPHA:431347,Disorder,[Morphological anomaly],Urachal diverticulum,[Vesicourachal diverticulum],Urachal diverticulum is the rarest type of congenital urachal anomaly (see this term) resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.,,,,,,,,, +GARD:21801,Active,Orphanet,ORPHA:431353,Group of disorders,[Category],Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,,A disorder that constitutes a rare subgroup of rare pulmonary hypertension characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.,,,,,,,,, +GARD:21802,Active,Orphanet,ORPHA:434786,Group of disorders,[Category],Rare genetic autonomic nervous system disorder,,,,,,,,,,, +GARD:21803,Active,Orphanet,ORPHA:434809,Group of disorders,[Category],Syndrome with woolly hair,,,,,,,,,,, +GARD:21804,Active,Orphanet,ORPHA:435365,Group of disorders,[Clinical group],Fetal lower urinary tract obstruction,[LUTO],,,,,,,,,, +GARD:21805,Active,Orphanet,ORPHA:435372,Disorder,[Morphological anomaly],Anterior urethral valve,,"A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly occurring in males and characterized by a posteriorly directed semilunar fold arising from the floor of the anterior urethra and causing urethral obstruction during micturition. The valves may be located anywhere distal to the membranous urethra. Clinical presentation is highly variable, depending on age and degree of urinary obstruction, and includes urinary incontinence, urinary retention, weak urinary stream, post-micturitional dribbling, bulging on the ventral penis, urinary tract infection, and urosepsis.",,,,,,,,, +GARD:21806,Active,Orphanet,ORPHA:435554,Group of disorders,[Category],Genetic precocious puberty,,,,,,,,,,, +GARD:21807,Active,Orphanet,ORPHA:435561,Group of disorders,[Category],Precocious puberty in female,,,,,,,,,,, +GARD:21808,Active,Orphanet,ORPHA:435564,Group of disorders,[Category],Genetic precocious puberty in female,,,,,,,,,,, +GARD:21809,Active,Orphanet,ORPHA:435603,Group of disorders,[Category],Genetic otorhinolaryngological malformation,,,,,,,,,,, +GARD:21810,Active,Orphanet,ORPHA:435606,Group of disorders,[Category],Genetic nose and cavum anomaly,,,,,,,,,,, +GARD:21811,Active,Orphanet,ORPHA:435609,Group of disorders,[Category],Genetic larynx anomaly,,,,,,,,,,, +GARD:21812,Active,Orphanet,ORPHA:435612,Group of disorders,[Category],Genetic tracheal anomaly,,,,,,,,,,, +GARD:21813,Active,Orphanet,ORPHA:435638,Disorder,[Malformation syndrome],3p25.3 microdeletion syndrome,"[Del(3)p(25.3), Intellectual disability-epilepsy-stereotypic hand movement syndrome, Monosomy 3p25.3]","3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.",,,,,,,,, +GARD:21814,Active,Orphanet,ORPHA:435743,Group of disorders,[Category],Congenital urachal anomaly,,"Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum (see these terms).",,,,,,,,, +GARD:21815,Active,Orphanet,ORPHA:435819,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,[CMT2 due to TFG mutation],"A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.",,,,,,,,, +GARD:21816,Active,Orphanet,ORPHA:436003,Disorder,[Malformation syndrome],Contractures-developmental delay-Pierre Robin syndrome,[5q23 microdeletion syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.",,,,,,,,, +GARD:21817,Active,Orphanet,ORPHA:436141,Disorder,[Malformation syndrome],Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.",,,,,,,,, +GARD:21818,Active,Orphanet,ORPHA:436144,Disorder,[Disease],Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,,"A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.",,,,,,,,, +GARD:21819,Active,Orphanet,ORPHA:436271,Disorder,[Disease],Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy,,"A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.",,,,,,,,, +GARD:21820,Active,Orphanet,ORPHA:436274,Disorder,[Disease],Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,[PXE-like syndrome with retinitis pigmentosa],"A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.",,,,,,,,, +GARD:21821,Active,Orphanet,ORPHA:438072,Group of disorders,[Category],Disorder of keton body transport,,,,,,,,,,, +GARD:21822,Active,Orphanet,ORPHA:438279,Disorder,[Disease],Human infection by orthopoxvirus,,"A rare viral disease characterized by fever, malaise, lymphadenopathy, and a maculopapular exanthema spreading from the site of infection to other regions of the body. The skin lesions eventually dry out and may leave behind scars. The most relevant orthopox species for human disease after the eradication of the variola virus, which was responsible for smallpox, are the monkeypox virus and the cowpox virus. Infections with these viruses typically take a benign course.",,,,,,,,, +GARD:21823,Active,Orphanet,ORPHA:439167,Disorder,[Clinical syndrome],Placental insufficiency,[Uteroplacental vascular insufficiency],"A rare obstetric disease characterized by inadequate blood flow to the placenta during pregnancy, resulting in a decrease in trans-placental transfer of oxygen and nutrients to the fetus, potentially leading to fetal growth retardation, distress, or death. Maternal risk factors include preeclampsia, gestational diabetes, and smoking, among others.",,,,,,,,, +GARD:21824,Active,Orphanet,ORPHA:439175,Disorder,[Clinical syndrome],Pediatric arterial ischemic stroke,"[Childhood AIS, Childhood arterial ischemic stroke, Pediatric AIS]","A rare neurologic condition characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in pediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. Children under one year of age are more likely to present with seizures and altered level of consciousness, while older children more often show focal neurological deficits.",,,,,,,,, +GARD:21825,Active,Orphanet,ORPHA:439196,Disorder,[Particular clinical situation in a disease or syndrome],Zinc-responsive necrolytic acral erythema,"[NAE, Necrolytic acral erythema]",,,,,,,,,, +GARD:21826,Active,Orphanet,ORPHA:439202,Disorder,[Disease],Non-recovering obstetric brachial plexus lesion,"[Chronic obstetric brachial plexus injury, Chronic obstetric brachial plexus palsy, Non-recovering OBPI, Non-recovering OBPL]","A rare acquired peripheral neuropathy characterized by paresis of the supraspinatus, infraspinatus, deltoid, and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits, and secondary deformities.",,,,,,,,, +GARD:21827,Active,Orphanet,ORPHA:439224,Disorder,[Disease],ALECT2 amyloidosis,[Leukocyte chemotactic factor-2 amyloidosis],"A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.",,,,,,,,, +GARD:21828,Active,Orphanet,ORPHA:439232,Disorder,[Disease],AApoAIV amyloidosis,[Apolipoprotein A-IV amyloidosis],"A rare, systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals renal tubular atrophy, interstitial fibrosis, glomerular sclerosis, and medullar amyloid deposits.",,,,,,,,, +GARD:21829,Active,Orphanet,ORPHA:439246,Group of disorders,[Clinical group],ABeta2M amyloidosis,[Beta2-microglobulinic amyloidosis],,,,,,,,,, +GARD:2183,Legacy,GARD,,,,,,,,,,,,Acute posterior multifocal placoid pigment epitheliopathy,TRUE,FALSE,Active +GARD:21830,Active,Orphanet,ORPHA:439737,Subtype of disorder,[Clinical subtype],Primary polyarteritis nodosa,"[Primary PAN, Primary periarteritis nodosa]",,,,,,,,,, +GARD:21831,Active,Orphanet,ORPHA:439746,Subtype of disorder,[Clinical subtype],Secondary polyarteritis nodosa,"[Secondary PAN, Secondary periarteritis nodosa]","Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN (see this term) characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).",,,,,,,,, +GARD:21832,Active,Orphanet,ORPHA:439755,Subtype of disorder,[Clinical subtype],Single-organ polyarteritis nodosa,"[Single-organ PAN, Single-organ periarteritis nodosa]","Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN; see this term), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN (see this term) and relapses appear to be more common.",,,,,,,,, +GARD:21833,Active,Orphanet,ORPHA:439762,Subtype of disorder,[Clinical subtype],Systemic polyarteritis nodosa,"[Systemic PAN, Systemic periarteritis nodosa]",Systemic polyarteritis nodosa (PAN; see this term) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.,,,,,,,,, +GARD:21834,Active,Orphanet,ORPHA:439849,Group of disorders,[Category],Autosomal recessive severe congenital neutropenia,,,,,,,,,,, +GARD:21835,Active,Orphanet,ORPHA:439881,Disorder,[Particular clinical situation in a disease or syndrome],Plastic bronchitis,"[Croupous bronchitis, Fibrinous bronchitis, Pseudo-membranous bronchitis]",,,,,,,,,, +GARD:21836,Active,Orphanet,ORPHA:440221,Disorder,[Disease],Congenital oculomotor nerve palsy,"[Congenital CNIII lesion, Congenital third cranial nerve palsy]","A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.",,,,,,,,, +GARD:21837,Active,Orphanet,ORPHA:440233,Disorder,[Disease],Congenital abducens nerve palsy,"[Benign congenital sixth cranial nerve palsy, Congenital CNVI palsy]","A rare neuro-ophthalmological disease characterized by dysfunction of the ipsilateral lateral rectus muscle with esotropia in primary position, limited or no abduction of the eyeball, and compensatory horizontal face turn toward the palsied eye. The condition commonly resolves spontaneously.",,,,,,,,, +GARD:21838,Active,Orphanet,ORPHA:440354,Disorder,[Malformation syndrome],Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,[Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome],"A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate.",,,,,,,,, +GARD:21839,Active,Orphanet,ORPHA:440368,Disorder,[Disease],Necrotizing soft tissue infection,[NSTI],"A rare infectious disease characterized by painful, rapidly progressive infection of deep soft tissue structures. Infections can be mono- or polymicrobial and involve gram-positive cocci, enteric gram-negative bacilli, anaerobes, among others. Fungal infections have also been described in rare cases. Physical examination findings are often subtle and may include erythema, bullae, induration of subcutaneous tissues, and tenderness to palpation.",,,,,,,,, +GARD:21840,Active,Orphanet,ORPHA:440437,Disorder,[Disease],Familial colorectal cancer Type X,[FCCTX],"A rare, hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterized by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumor cells, a more heterogeneous tumor architecture and an infiltrative growth pattern, when compared to Lynch syndrome cases.",,,,,,,,, +GARD:21841,Active,Orphanet,ORPHA:440701,Group of disorders,[Category],Disorders of pentose/polyol metabolism,,,,,,,,,,, +GARD:21842,Active,Orphanet,ORPHA:440724,Disorder,[Disease],Extensive peripapillary myelinated nerve fibers,,"A rare ophthalmic disorder characterized by visual abnormalities (such as myopia, strabismus, or amblyopia) due to the presence of myelinated retinal nerve fibers, which appear as whitish patches with feathery edges at the level of the retinal nerve fiber layer and may be continuous or discontinuous with the optic nerve head. The defect can be unilateral or bilateral.",,,,,,,,, +GARD:21843,Active,Orphanet,ORPHA:440727,Disorder,[Disease],Combined hamartoma of the retina and retinal pigment epithelium,"[CHR-RPE, Combined hamartoma of the retina and RPE]","A rare benign eye tumor characterized by the presence of glial cells, vascular tissue, and sheets of pigment epithelial cells lacking the distribution and organization of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, nevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision.",,,,,,,,, +GARD:21844,Active,Orphanet,ORPHA:440987,Disorder,[Morphological anomaly],Isolated agenesis of gallbladder,,"A rare biliary tract disease characterized by congenital absence of the gallbladder and cystic duct. The majority of patients are asymptomatic. Possible clinical manifestations include abdominal pain and tenderness in the right upper quadrant, nausea, vomiting, fatty food intolerance, and jaundice. Frequency of choledocholithiasis is increased significantly.",,,,,,,,, +GARD:21845,Active,Orphanet,ORPHA:441434,Group of disorders,[Category],Syndromic hereditary optic neuropathy,,,,,,,,,,, +GARD:21846,Active,Orphanet,ORPHA:441447,Subtype of disorder,[Clinical subtype],Early-onset posterior subcapsular cataract,,,,,,,,,,, +GARD:21847,Active,Orphanet,ORPHA:442582,Disorder,[Disease],AH amyloidosis,[Heavy chain amyloidosis],"A rare, systemic amyloidosis characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. Amyloid fibrils deposit in various organs, most commonly in the kidneys. It typically affects older patients and clinical presentation includes signs and symptoms of renal dysfunction, sometimes leading to nephrotic syndrome and end stage renal disease. Cardiac, liver and nerves involvement has also been described.",,,,,,,,, +GARD:21848,Active,Orphanet,ORPHA:443090,Group of disorders,[Category],"46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect",,,,,,,,,,, +GARD:21849,Active,Orphanet,ORPHA:443095,Group of disorders,[Category],Hyperinsulinemic hypoglycaemia,,,,,,,,,,, +GARD:21850,Active,Orphanet,ORPHA:443101,Disorder,[Disease],Hypothalamic adipsic hypernatraemia syndrome,,"A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception, due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal.",,,,,,,,, +GARD:21851,Active,Orphanet,ORPHA:443159,Disorder,[Disease],Lymphoplasmacytic lymphoma without IgM production,[Lymphoplasmacytic lymphoma without Immunoglobulin M production],"A rare B-cell non-Hodgkin lymphoma characterized by the presence of small B-lymphocytes, plasmacytoid lymphocytes, and plasma cells, and either non-secreting or secreting IgG or IgA paraproteins. The disease usually involves the bone marrow, sometimes also the spleen or lymph nodes. Patients typically present with symptoms related to anemia. Hyperviscosity, autoimmune phenomena, and B symptoms may also be observed. Mortality is higher as compared to Waldenström macroglobulinemia.",,,,,,,,, +GARD:21852,Active,Orphanet,ORPHA:443167,Disorder,[Disease],NUT midline carcinoma,[NMC],"A rare tumor characterized by a rapidly growing mass usually arising along the midline, defined by the presence of NUTM1 rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect, depending on the location. Extensive local invasion of adjacent structures, lymph node involvement, and distant metastatic disease are often present at the time of diagnosis. Prognosis is generally poor.",,,,,,,,, +GARD:21853,Active,Orphanet,ORPHA:443173,Disorder,[Disease],Postpartum psychosis,[Puerperal psychosis],"A rare gynecologic or obstetric disease characterized by an abrupt onset of psychiatric symptoms during the first weeks after childbirth. Clinical features include mood changes, depression, anxiety, delusions, and hallucinations, among others. The disease is associated with a risk of suicide or infanticide, as well as an increased risk for recurrence after the next pregnancy and future non-pregnancy related psychotic episodes.",,,,,,,,, +GARD:21854,Active,Orphanet,ORPHA:443180,Disorder,[Disease],Spontaneous intracranial hypotension,[Spontaneous cerebrospinal fluid leak],"A rare headache resulting from a cerebrospinal fluid (CSF) leak with subsequent lowered CSF pressure, characterized clinically by severe headaches which typically worsen upon standing up and get better when lying down. Additional features may include neck stiffness, nausea, vomiting, vertigo, tinnitus, visual disturbances, and cognitive abnormalities, among others, as sagging and displacement of the brain can lead to a variety of lesions and symptoms.",,,,,,,,, +GARD:21855,Active,Orphanet,ORPHA:443227,Disorder,[Disease],Paratyphoid fever,,"A rare form of salmonellosis caused by Salmonella enterica serovar Paratyphi A, B and C, characterized by typical symptoms of enteric fever including high fever, headache, abdominal pain and intestinal symptoms, dry cough, chills, and rashes, followed by a long period of recovery. The infection can be complicated by intestinal hemorrhage and perforation, as well as cardiac involvement, and may even be fatal. Transmission of the pathogen is via the fecal-oral route, with humans as the sole reservoir of infection.",,,,,,,,, +GARD:21856,Active,Orphanet,ORPHA:443287,Group of disorders,[Category],ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor,,,,,,,,,,, +GARD:21857,Active,Orphanet,ORPHA:443291,Disorder,[Particular clinical situation in a disease or syndrome],HIV-associated cancer,[HIV-related cancer],,,,,,,,,, +GARD:21858,Active,Orphanet,ORPHA:444002,Disorder,[Malformation syndrome],11q22.2q22.3 microdeletion syndrome,"[Del(11)(q22.2q22.3), Monosomy 11q22.2q22.3]","11q22.2q22.3 microdeletion syndrome is a rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.",,,,,,,,, +GARD:21859,Active,Orphanet,ORPHA:444051,Disorder,[Malformation syndrome],20q11.2 microdeletion syndrome,"[Del(20)(q11.2), Monosomy 20q11]","A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.",,,,,,,,, +GARD:21860,Active,Orphanet,ORPHA:444316,Disorder,[Disease],Idiopathic phalangeal acro-osteolysis,[Idiopathic phalangeal acroosteolysis],"A rare bone disease characterized by bone resorption affecting the distal phalanx, most commonly the terminal tuft, in the absence of a known cause. Patients present with shortening of the affected fingers or toes, associated with nail abnormalities (dystrophic or hypertrophic nails) and skin changes (such as ulceration or pigment anomalies).",,,,,,,,, +GARD:21861,Active,Orphanet,ORPHA:444916,Group of disorders,[Clinical group],Pseudohypoaldosteronism,,,,,,,,,,, +GARD:21862,Active,Orphanet,ORPHA:444941,Group of disorders,[Clinical group],Caudal regression-sirenomelia spectrum,,"A group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.",,,,,,,,, +GARD:21863,Active,Orphanet,ORPHA:445197,Group of disorders,[Category],Secondary vasculitis,,,,,,,,,,, +GARD:21864,Active,Orphanet,ORPHA:447731,Disorder,[Disease],NIK deficiency,[Primary immunodeficiency with multifaceted aberrant lymphoid immunity],"A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation.",,,,,,,,, +GARD:21865,Active,Orphanet,ORPHA:447740,Disorder,[Disease],Susceptibility to localized juvenile periodontitis,,"A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss.",,,,,,,,, +GARD:21866,Active,Orphanet,ORPHA:447757,Disorder,[Disease],Autosomal dominant spastic paraplegia type 9B,[AD-SPG9B],"A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal.",,,,,,,,, +GARD:21867,Active,Orphanet,ORPHA:447764,Subtype of disorder,[Clinical subtype],IgG4-related sclerosing cholangitis,,"A rare systemic autoimmune disease characterized by cholestasis and diffuse cholangiographic abnormalities with circular and symmetrical bile duct wall thickening, and elevated serum IgG4 levels. Characteristic histopathological findings include dense infiltration of IgG4-positive plasma cells and extensive fibrosis in the bile duct wall. A marked response to steroid therapy is typical. Patients present with jaundice, cholangitis, pruritis, and sometimes associated findings of autoimmune pancreatitis, sialadenitis, and retroperitoneal fibrosis.",,,,,,,,, +GARD:21868,Active,Orphanet,ORPHA:447771,Group of disorders,[Clinical group],Sclerosing cholangitis,,,,,,,,,,, +GARD:21869,Active,Orphanet,ORPHA:447774,Disorder,[Disease],Secondary sclerosing cholangitis,,"A rare, biliary tract disease characterized by development of sclerosing cholangitis due to a known primary insult to the biliary tree, including infections, autoimmune disease, exposure to toxic agents, obstructive and ischemic injuries. Patients may be initially asymptomatic with only elevated alkaline phosphatase and gamma glutamyltransferase levels. Later presentation includes abdominal pain, jaundice, pruritus, fever and bacterial cholangitis from ascending infection.",,,,,,,,, +GARD:21870,Active,Orphanet,ORPHA:447777,Disorder,[Disease],Keratocystic odontogenic tumor,"[KTOC, Odontogenic keratocystoma]","A rare odontogenic tumor characterized by an unilocular or multilocular cyst most commonly located in the posterior body and lower ramus of the mandible, often surrounding the crown of the third molar. Histopathologically, the lesion shows a lining of parakeratinized stratified squamous epithelium with palisading hyperchromatic basal cells. Patients may be asymptomatic or present with local infection and/or signs and symptoms of mass effect. Recurrence is rare after complete surgical removal. Some patients have multiple cysts (metachronous or synchronous), especially in the context of nevoid basal cell carcinoma syndrome (Gorlin syndrome).",,,,,,,,, +GARD:21871,Active,Orphanet,ORPHA:447788,Disorder,[Clinical syndrome],Cerebral visual impairment,[Cortical visual impairment],"A rare neurologic disease characterized by significant visual dysfunction that cannot be explained by ocular abnormalities alone and is due to damage to post-chiasmatic visual pathways and structures during early perinatal development. Signs and symptoms include decreased visual acuity, visual field defects, and impairments in visual processing and attention.",,,,,,,,, +GARD:21872,Active,Orphanet,ORPHA:447795,Disorder,[Biological anomaly],Lipoyl transferase 2 deficiency,,,,,,,,,,, +GARD:21873,Active,Orphanet,ORPHA:447874,Group of disorders,[Category],Biological anomaly without phenotypic characterization,,,,,,,,,,, +GARD:21874,Active,Orphanet,ORPHA:447881,Disorder,[Clinical syndrome],Idiopathic dropped head syndrome,[Isolated neck extensor myopathy],"A rare acquired skeletal muscle disease characterized by severe weakness of the neck extensor muscles causing progressive reducible kyphosis of the cervical spine and the inability to hold the head up, in the absence of a known cause. Histological studies reveal a non-inflammatory myopathic picture. The clinical course is relatively benign, although cervical myelopathy may develop.",,,,,,,,, +GARD:21875,Active,Orphanet,ORPHA:447980,Disorder,[Malformation syndrome],19p13.3 microduplication syndrome,[Dup(19)(p13.13)],"A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.",,,,,,,,, +GARD:21876,Active,Orphanet,ORPHA:447985,Group of disorders,[Category],Partial duplication of the short arm of chromosome 19,"[Partial duplication of chromosome 19p, Partial trisomy of chromosome 19p, Partial trisomy of the short arm of chromosome 19]",,,,,,,,,, +GARD:21877,Active,Orphanet,ORPHA:448270,Disorder,[Morphological anomaly],Ectopia cordis,,"A rare, life-threatening, congenital non-syndromic heart malformation characterized by complete or partial location of the heart outside the thoracic cavity. The main ectopic positions are thoracic but anterior to the sternum, abdominal, thoracoabdominal, and cervical. Associated abnormalities include sternal, diaphragmatic, pericardial, and abdominal wall defects, as well as intracardiac malformations.",,,,,,,,, +GARD:21878,Active,Orphanet,ORPHA:448426,Group of disorders,[Category],Genetic primary orthostatic hypotension,,,,,,,,,,, +GARD:21879,Active,Orphanet,ORPHA:449266,Disorder,[Particular clinical situation in a disease or syndrome],Pleural empyema,,"A rare pulmonary condition characterized by accumulation of pus in the pleural cavity, most commonly as a consequence of pneumonia, but also trauma and surgical procedures. Clinical signs and symptoms depend on host factors, as well as the nature of the causative microorganism, among others, and include cough, chest pain, dyspnea, and fever.",,,,,,,,, +GARD:2188,Active,Orphanet,ORPHA:222,Disorder,[Disease],Erosive pustular dermatosis of the scalp,,"Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.",,,,,,Erosive pustular dermatosis of the scalp,TRUE,FALSE,Active +GARD:21880,Active,Orphanet,ORPHA:449280,Disorder,[Disease],Scedosporiosis,,"A rare mycosis caused by Scedosporium species, characterized by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, chronic lung disease, but also in immunocompetent hosts and near drowning.",,,,,,,,, +GARD:21881,Active,Orphanet,ORPHA:449285,Disorder,[Disease],Snakebite envenomation,,,,,,,,,,, +GARD:21882,Active,Orphanet,ORPHA:449395,Subtype of disorder,[Clinical subtype],IgG4-related kidney disease,,"A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis.",,,,,,,,, +GARD:21883,Active,Orphanet,ORPHA:449400,Subtype of disorder,[Clinical subtype],IgG4-related aortitis,,"A rare systemic autoimmune disease characterized by infiltrates of IgG4-positive plasma cells and lymphocytes in the adventitia of the aorta, resulting in thickening of perivascular tissue or formation of soft tissue masses surrounding the aorta and its major branches (potentially complicated by inflammatory aortic aneurysm), associated with elevated serum IgG4 levels. Preferential location is the infra-renal portion of the abdominal aorta. In addition, medium-sized blood vessels can be involved, and the condition may occur together with IgG4-related disease in other parts of the body. Clinical symptoms are unspecific and include chest or back pain and fever.",,,,,,,,, +GARD:21884,Active,Orphanet,ORPHA:449432,Subtype of disorder,[Clinical subtype],IgG4-related submandibular gland disease,[Küttner tumor],,,,,,,,,, +GARD:21885,Active,Orphanet,ORPHA:449563,Subtype of disorder,[Clinical subtype],IgG4-related ophthalmic disease,,"A rare, inflammatory eye disease characterized by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common.",,,,,,,,, +GARD:21886,Active,Orphanet,ORPHA:449566,Disorder,[Disease],Eosinophilic angiocentric fibrosis,[IgG4-related eosinophilic angiocentric fibrosis],"A rare otorhinolaryngologic disease characterized by an indolent submucosal mass of variable size and extent, most commonly arising in the anterior nasal cavity, involving the nasal septum and lateral nasal wall, and potentially extending into the adjacent sinuses. Occurrence in the larynx and lower respiratory tract or the orbit is rare. Histological examination shows concentric angiocentric stromal fibrosis (onionskin fibrosis) and prominent eosinophils. Increased numbers of IgG4-positive plasma cells in the lesion may also be observed, in addition to elevated serum IgG4. Patients typically present with long-standing obstructive symptoms.",,,,,,,,, +GARD:21887,Active,Orphanet,ORPHA:450322,Disorder,[Clinical syndrome],Polyclonal hyperviscosity syndrome,,"A rare hematologic disease characterized by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström's macroglobulinemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal hemorrhage, headache, stroke, pulmonary hypertension, and congestive heart failure.",,,,,,,,, +GARD:21888,Active,Orphanet,ORPHA:451602,Disorder,[Disease],Primary cutaneous plasmacytosis,,"A rare acquired skin disease characterized by benign proliferation of mature plasma cells with a typical triad of cutaneous lesions, polyclonal hypergammaglobulinemia, and superficial lymphadenopathy, without an apparent underlying cause. The skin lesions consist of multiple round-to-oval, red-to-dark-brown macules, papules, and plaques most commonly found on the trunk, but also the face, neck, and axillae.",,,,,,,,, +GARD:21889,Active,Orphanet,ORPHA:451607,Disorder,[Disease],Cutaneous pseudolymphoma,,"A rare acquired skin disease characterized by a benign, etiologically variable lymphoproliferative process of the skin mimicking cutaneous lymphoma clinically and/or histologically, while not fulfilling criteria for the diagnosis of a specific disease. Depending on the predominant cell type in the infiltrate, T- and B-cell pseudolymphomas can be distinguished.",,,,,,,,, +GARD:21890,Active,Orphanet,ORPHA:453510,Disorder,[Disease],Congenital insensitivity to pain with severe intellectual disability,"[Congenital absence of pain with severe intellectual disability, Congenital analgesia with severe intellectual disability, Congenital insensitivity to pain with preserved temperature sensation, Congenital insensitivity to pain with severe non-progressive cognitive delay]","Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.",,,,,,,,, +GARD:21891,Active,Orphanet,ORPHA:454706,Disorder,[Disease],Progressive muscular atrophy,[PMA],"A rare motor neuron disease characterized by isolated lower motor neuron features, including progressive flaccid weakness, muscle atrophy, fasciculations, and reduced or absent tendon reflexes. Onset is in late adulthood, with men being affected more often than women. Upper motor neuron signs may develop later in some cases. Occurrence of respiratory insufficiency determines the prognosis. Neuropathological analysis shows intraneuronal Bunina bodies and ubiquitin-positive inclusions.",,,,,,,,, +GARD:21892,Active,Orphanet,ORPHA:454710,Disorder,[Disease],Anti-p200 pemphigoid,,"A rare, acquired, subepidermal autoimmune bullous disease characterized by polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with imunoglubulin G deposition in the basement membrane zone. Lesions are frequently localized on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes.",,,,,,,,, +GARD:21893,Active,Orphanet,ORPHA:454723,Disorder,[Disease],Endometrioid carcinoma of ovary,,"A rare malignant epithelial tumor of ovary characterized by confluent or cribriform proliferations of round, oval, or tubular glands, typically lined by stratified non-mucin-containing epithelium with well-defined luminal margins. Squamous differentiation, secretory changes, oxyphilic variants, sex cord-stromal type patterns, or sertoliform endometrioid carcinomas may occur. Patients most commonly present in the sixth decade of life, either with a pelvic mass with or without pain, or without any symptoms. The tumor may be bilateral and is frequently associated with endometriosis and/or endometrial carcinoma.",,,,,,,,, +GARD:21894,Active,Orphanet,ORPHA:454742,Disorder,[Disease],Variably protease-sensitive prionopathy,,"A rare human prion disease characterized by accumulation of abnormal prion protein markedly less protease-resistant than in other prion diseases, depending on the genotype at codon 129 of the prion protein gene. No mutations are found in the coding sequence of the gene. Neuropathological analysis shows spongiform change and prion protein deposition with microplaques in the cerebellum. Patients present with slowly progressive cognitive and motor decline, psychiatric symptoms, ataxia, myoclonus, or tremor, among others. The disease is fatal and transmissible to other individuals.",,,,,,,,, +GARD:21895,Active,Orphanet,ORPHA:454750,Disorder,[Morphological anomaly],Isolated tracheoesophageal fistula,[H-type tracheoesophageal fistula],"A rare, congenital, esophageal malformation characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood.",,,,,,,,, +GARD:21896,Active,Orphanet,ORPHA:454831,Disorder,[Particular clinical situation in a disease or syndrome],Acute radiation syndrome,[Acute radiation sickness],,,,,,,,,, +GARD:21897,Active,Orphanet,ORPHA:454836,Disorder,[Disease],Avian influenza,,"A rare, infectious disease characterized by variable severity and outcome, ranging from mild upper respiratory tract infection with fever and cough, to influenza-like illness with rapid progression to severe pneumonia, sepsis with shock, acute respiratory distress syndrome and even death. Additional manifestations may include conjunctivitis, nausea, abdominal pain, diarrhea, vomiting, multiple organ dysfunction, and encephalopathy.",,,,,,,,, +GARD:21898,Active,Orphanet,ORPHA:456298,Disorder,[Malformation syndrome],1p35.2 microdeletion syndrome,"[Del(1)(p35.2), Deletion 1p35.2, Monosomy 1p35.2]","A very rare, chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.",,,,,,,,, +GARD:21899,Active,Orphanet,ORPHA:456333,Disorder,[Disease],Hereditary neuroendocrine tumor of small intestine,[Hereditary neuroendocrine tumor of small bowel],"A rare inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported.",,,,,,,,, +GARD:219,Legacy,GARD,,,,,,,,,,,,Congenital giant megaureter,TRUE,FALSE,Active +GARD:21900,Active,Orphanet,ORPHA:457062,Group of disorders,[Clinical group],Pseudohypoparathyroidism without Albright hereditary osteodystrophy,,,,,,,,,,, +GARD:21901,Active,Orphanet,ORPHA:457074,Group of disorders,[Clinical group],Congenital nemaline myopathy,,,,,,,,,,, +GARD:21902,Active,Orphanet,ORPHA:457077,Disorder,[Disease],TAFRO syndrome,[Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome],"A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare.",,,,,,,,, +GARD:21903,Active,Orphanet,ORPHA:457083,Disorder,[Morphological anomaly],Isolated splenogonadal fusion,[SGF],"A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ectopic spleen tissue without connection to the principal spleen. Males typically present with a scrotal mass or as an incidental finding during the management of cryptorchidism, testicular tumors or inguinal hernia. In females this is usually an incidental finding during laparotomy.",,,,,,,,, +GARD:21904,Active,Orphanet,ORPHA:457205,Disorder,[Disease],Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,"[ANOAC, Axonal neuropathy-optic atrophy-cognitive deficit syndrome]","A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.",,,,,,,,, +GARD:21905,Active,Orphanet,ORPHA:457246,Disorder,[Disease],Clear cell sarcoma of kidney,[CCSK],"Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.",,,,,,,,, +GARD:21906,Active,Orphanet,ORPHA:457365,Disorder,[Malformation syndrome],Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness, and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose, and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia, and intention tremor. Brain imaging may show white matter abnormalities.",,,,,,,,, +GARD:21907,Active,Orphanet,ORPHA:458758,Disorder,[Disease],Composite hemangioendothelioma,,"A rare vascular tumor characterized by a poorly circumscribed, infiltrative nodular lesion with vascular differentiation, centered in the dermis and subcutis. The tumor is composed of histologically benign, intermediate, and malignant components. Typical is an admixture of different components which include epithelioid and retiform hemangioendothelioma, spindle cell hemangioma, angiosarcoma-like areas, and benign vascular lesions. Predilection sites are the distal extremities. Many patients have a history of lymphedema. Local recurrence is frequent, while metastasis is rare.",,,,,,,,, +GARD:21908,Active,Orphanet,ORPHA:458763,Disorder,[Disease],Retiform hemangioendothelioma,,"A rare vascular tumor characterized by a slowly growing lesion with predominant involvement of the skin and subcutaneous tissue of the distal extremities. Distinctive arborizing blood vessels lined by endothelial cells with characteristic hobnail morphology are a typical feature. Local recurrences are frequent unless wide local excision is performed, while metastasis is rare.",,,,,,,,, +GARD:21909,Active,Orphanet,ORPHA:458768,Disorder,[Disease],Primary intralymphatic angioendothelioma,[Dabska tumor],"A rare vascular tumor characterized by an ill-defined, slowly growing, asymptomatic cutaneous plaque or nodule mostly involving the limbs, in fewer cases the trunk. The tumor is composed of lymphatic-like channels with prominent intraluminal papillary tufts with hyaline cores lined by hobnail endothelial cells. It is locally aggressive, while metastasis is rare. Infants and children are much more often affected than adults.",,,,,,,,, +GARD:2191,Active,Orphanet+OMIM,OMIM:609536,Subtype of disorder,[Disease subtype],Complement component 5 deficiency,[C5 deficiency],,[609536],[169150],[Immunodeficiency due to a late component of complement deficiency],[17050],,Complement component 5 deficiency,TRUE,FALSE,Active +GARD:21910,Active,Orphanet,ORPHA:458775,Group of disorders,[Clinical group],Congenital hemangioma,,,,,,,,,,, +GARD:21911,Active,Orphanet,ORPHA:458785,Disorder,[Disease],Partially involuting congenital hemangioma,,"A rare congenital hemangioma characterized by a superficial, red to violaceous lesion with overlying telangiectasia and a surrounding pale halo, which initially behaves like a rapidly involuting congenital hemangioma, beginning to involute shortly after birth. Involution is then aborted, and a residual tumor virtually indistinguishable from non-involuting congenital hemangioma remains. This lesion grows proportionally with the child and does not regress.",,,,,,,,, +GARD:21912,Active,Orphanet,ORPHA:458792,Disorder,[Malformation syndrome],Mixed cystic lymphatic malformation,[Mixed cystic lymphangioma],"A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.",,,,,,,,, +GARD:21913,Active,Orphanet,ORPHA:458827,Group of disorders,[Category],Vascular tumor with associated anomalies,,,,,,,,,,, +GARD:21914,Active,Orphanet,ORPHA:458830,Group of disorders,[Category],Rare capillary malformation with associated anomalies,,,,,,,,,,, +GARD:21915,Active,Orphanet,ORPHA:458833,Group of disorders,[Clinical group],Common cystic lymphatic malformation,,"A group of rare lymphatic malformation disorders characterized by solitary or multifocal, benign, congenital malformation of the lymphatic vessels in the soft tissues, resulting in painless cystic lesions, which are predominantly found in the head and neck (but may affect any site), and which have varying clinical presentation depending on specific size and location of lesion. Categorization into macrocystic lympathic malformations, microcystic lymphatic malformations or mixed cystic lymphatic malformations is reported based on the size of the cyst(s) contained within the lesion. Functional deficits and compromise of vital functions (including breathing, feeding) may be observed.",,,,,,,,, +GARD:21916,Active,Orphanet,ORPHA:458837,Group of disorders,[Clinical group],Rare combined vascular malformation,,,,,,,,,,, +GARD:21917,Active,Orphanet,ORPHA:458844,Group of disorders,[Category],Rare vascular malformation of major vessels,,,,,,,,,,, +GARD:21918,Active,Orphanet,ORPHA:459074,Disorder,[Malformation syndrome],Corpus callosum agenesis-macrocephaly-hypertelorism syndrome,"[7q36.3 microduplication syndrome, Dup(7)(q36.3)]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association.",,,,,,,,, +GARD:21919,Active,Orphanet,ORPHA:459345,Group of disorders,[Category],Immunodeficiency due to a complement cascade component deficiency,,,,,,,,,,, +GARD:2192,Active,Orphanet,ORPHA:1954,Disorder,[Disease],Congenital lethal erythroderma,,"A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.",[227090],,,,,Erythroderma lethal congenital,TRUE,FALSE,Retired +GARD:21920,Active,Orphanet,ORPHA:459348,Group of disorders,[Category],Immunodeficiency due to a complement regulatory deficiency,,,,,,,,,,, +GARD:21921,Active,Orphanet,ORPHA:459526,Group of disorders,[Category],Rare genetic capillary malformation,,,,,,,,,,, +GARD:21922,Active,Orphanet,ORPHA:459537,Group of disorders,[Category],Genetic complex vascular malformation with associated anomalies,[Genetic hemangiolymphangioma],,,,,,,,,, +GARD:21923,Active,Orphanet,ORPHA:459543,Group of disorders,[Category],Rare genetic vascular tumor,,,,,,,,,,, +GARD:21924,Active,Orphanet,ORPHA:459548,Group of disorders,[Category],Rare genetic venous malformation,,,,,,,,,,, +GARD:21925,Active,Orphanet,ORPHA:459787,Group of disorders,[Category],Lethal multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:21926,Active,Orphanet,ORPHA:464311,Subtype of disorder,[Etiological subtype],Intellectual disability syndrome due to a DYRK1A point mutation,[DYRK1A-related intellectual disability syndrome due to a point mutation],,,,,,,,,, +GARD:21927,Active,Orphanet,ORPHA:464318,Disorder,[Disease],Verrucous hemangioma,,"A rare vascular anomaly characterized by congenital, solitary or grouped, red-to-purple plaques which may bleed and enlarge over time. The lesions show a predilection for the lower extremities. Histological examination reveals numerous dilated, congested capillaries and venules in the papillary dermis, often with a deep dermal component, and with increased density of variably congested capillaries and venules also in the subcutaneous tissue. The overlying epidermis displays prominent acanthosis, papillomatosis, hyperkeratosis, parakeratosis, and crusting.",,,,,,,,, +GARD:21928,Active,Orphanet,ORPHA:464359,Disorder,[Disease],Benign metanephric tumor,,,,,,,,,,, +GARD:21929,Active,Orphanet,ORPHA:464370,Disorder,[Disease],Neonatal alloimmune neutropenia,,"A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.",,,,,,,,, +GARD:21930,Active,Orphanet,ORPHA:464453,Disorder,[Disease],Acquired methemoglobinemia,[Drug-induced methemoglobinemia],"A rare hematologic disease characterized by increased levels of methemoglobin in the blood due to exposure to oxidizing agents like nitrates or nitrites, a variety of medications (most commonly local anesthetics), or aniline dyes, among others. Clinical manifestations include cyanosis, dizziness, headache, dyspnea, confusion, and coma. The severity of symptoms ranges from mild to life-threatening, depending on the percentage of methemoglobin.",,,,,,,,, +GARD:21931,Active,Orphanet,ORPHA:464458,Disorder,[Particular clinical situation in a disease or syndrome],Paracetamol poisoning,[Acetaminophen poisoning],,,,,,,,,, +GARD:21932,Active,Orphanet,ORPHA:464756,Disorder,[Disease],Familial gastric type 1 neuroendocrine tumor,,"A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. Synchronous gastric adenocarcinoma has also been reported. Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis).",,,,,,,,, +GARD:21933,Active,Orphanet,ORPHA:464764,Group of disorders,[Clinical group],Immune-mediated acquired neuromuscular junction disease,,,,,,,,,,, +GARD:21934,Active,Orphanet,ORPHA:466066,Group of disorders,[Category],Genetic hemoglobinopathy,,,,,,,,,,, +GARD:21935,Active,Orphanet,ORPHA:466084,Group of disorders,[Category],Genetic otorhinolaryngologic disease,,,,,,,,,,, +GARD:21936,Active,Orphanet,ORPHA:466650,Disorder,[Disease],Exercise-induced malignant hyperthermia,[Exertional heat stroke],"A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.",,,,,,,,, +GARD:21937,Active,Orphanet,ORPHA:466658,Group of disorders,[Category],Rare disease with malignant hyperthermia,,,,,,,,,,, +GARD:21938,Active,Orphanet,ORPHA:466670,Disorder,[Particular clinical situation in a disease or syndrome],Cyanide poisoning,,,,,,,,,,, +GARD:21939,Active,Orphanet,ORPHA:466677,Disorder,[Disease],Scorpion envenomation,,"Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.",,,,,,,,, +GARD:21940,Active,Orphanet,ORPHA:466682,Disorder,[Disease],Euthyroid Graves orbitopathy,[Euthyroid Graves ophthalmopathy],"A rare ophthalmic disorder characterized by clinical signs of Graves orbitopathy (i. e. unilateral or bilateral lid retraction, exophthalmos, soft tissue involvement, restrictive myopathy, and/or optic neuropathy) with normal thyroid function and without any signs of hyperthyroidism. Laboratory examination typically reveals low serum levels of thyroid-stimulating hormone receptor autoantibodies.",,,,,,,,, +GARD:21941,Active,Orphanet,ORPHA:466695,Disorder,[Morphological anomaly],Supratip dysplasia,,"Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.",,,,,,,,, +GARD:21942,Active,Orphanet,ORPHA:466921,Disorder,[Disease],Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,,"A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.",,,,,,,,, +GARD:21943,Active,Orphanet,ORPHA:466962,Disorder,[Disease],SMARCA4-deficient sarcoma of thorax,[SMARCA4-deficient thoracic sarcoma],"A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnea, cough, chest pain, or dysphagia, among others. The tumors are aggressive with limited response to chemotherapies, rapid local progression, high recurrence rate after surgical resection, and short median survival times. There is a strong association with smoking.",,,,,,,,, +GARD:21944,Active,Orphanet,ORPHA:467166,Disorder,[Disease],Tubulinopathy-associated dysgyria,[Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome],"A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems.",,,,,,,,, +GARD:21945,Active,Orphanet,ORPHA:468635,Disorder,[Disease],Cryptogenic multifocal ulcerous stenosing enteritis,[CMUSE],"A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed.",,,,,,,,, +GARD:21946,Active,Orphanet,ORPHA:468641,Disorder,[Disease],Chronic enteropathy associated with SLCO2A1 gene,[CEAS],"A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.",,,,,,,,, +GARD:21947,Active,Orphanet,ORPHA:471383,Group of disorders,[Category],Genetic lethal multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:21948,Active,Orphanet,ORPHA:474347,Group of disorders,[Clinical group],Rare congenital anomaly of ventricular septum,"[Congenital anomaly of interventricular communication, Congenital ventricular septal anomaly]",,,,,,,,,, +GARD:21949,Active,Orphanet,ORPHA:476093,Disorder,[Disease],Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,,"A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.",,,,,,,,, +GARD:2195,Active,Orphanet,ORPHA:2405,Disorder,[Malformation syndrome],Thickened earlobes-conductive deafness syndrome,"[Escher-Hirt syndrome, Thickened earlobes-conductive hearing loss syndrome]","Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.",[128980],,,,,Escher Hirt syndrome,TRUE,FALSE,Retired +GARD:21950,Active,Orphanet,ORPHA:476096,Disorder,[Disease],Erythrokeratodermia-cardiomyopathy syndrome,[EKC syndrome],"Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.",,,,,,,,, +GARD:21951,Active,Orphanet,ORPHA:476109,Group of disorders,[Clinical group],Axonal hereditary motor and sensory neuropathy,[Axonal HMSN],,,,,,,,,, +GARD:21952,Active,Orphanet,ORPHA:476116,Group of disorders,[Clinical group],Demyelinating hereditary motor and sensory neuropathy,[Demyelinating HMSN],,,,,,,,,, +GARD:21953,Active,Orphanet,ORPHA:476119,Disorder,[Malformation syndrome],Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,,"A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet.",,,,,,,,, +GARD:21954,Active,Orphanet,ORPHA:476123,Group of disorders,[Clinical group],Intermediate Charcot-Marie-Tooth disease,"[Intermediate CMT, Intermediate hereditary motor and sensory neuropathy]",,,,,,,,,, +GARD:21955,Active,Orphanet,ORPHA:476403,Group of disorders,[Clinical group],Hypercontractile muscle stiffness syndrome,,,,,,,,,,, +GARD:21956,Active,Orphanet,ORPHA:476406,Disorder,[Disease],Congenital generalized hypercontractile muscle stiffness syndrome,,"A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.",,,,,,,,, +GARD:21957,Active,Orphanet,ORPHA:477647,Group of disorders,[Category],Type 1 interferonopathy,,,,,,,,,,, +GARD:21958,Active,Orphanet,ORPHA:477650,Disorder,[Disease],Fibroblastic rheumatism,,"A rare rheumatologic disease characterized by sudden onset of symmetric inflammatory distal polyarthritis and multiple firm cutaneous nodules with predilection for the upper and lower extremities. Patients often develop sclerodactyly and joint contractures. Skin biopsy shows fibroblastic proliferation in a matrix of thickened collagen fibers, with loss of elastic fibers and no mucin deposition.",,,,,,,,, +GARD:21959,Active,Orphanet,ORPHA:477742,Disorder,[Disease],Nodular fasciitis,"[Pseudosarcomatous fasciitis, Pseudosarcomatous fibromatosis]","A rare soft tissue tumor characterized by a solitary mass-forming fibrous proliferation that usually occurs in the subcutaneous tissue, composed of uniform fibroblastic/myofibroblastic cells displaying a loose growth pattern. Upper extremities, trunk, and head and neck are most frequently affected. The lesion typically grows rapidly and almost always measures less than five centimeters in diameter. Macroscopically, it may appear circumscribed or infiltrative but is not encapsulated. Recurrence after excision is very rare, and metastasis does not occur.",,,,,,,,, +GARD:2196,Legacy,GARD,,,,,,,,,,,,Esophageal atresia coloboma talipes,TRUE,FALSE,Active +GARD:21960,Active,Orphanet,ORPHA:477754,Group of disorders,[Category],Genetic cerebral small vessel disease,,,,,,,,,,, +GARD:21961,Active,Orphanet,ORPHA:477759,Group of disorders,[Category],COL4A1 or COL4A2-related cerebral small vessel disease,[COL4A1 or COL4A2-related cerebral angiopathy],,,,,,,,,, +GARD:21962,Active,Orphanet,ORPHA:477762,Group of disorders,[Clinical group],COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy,[COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy],,,,,,,,,, +GARD:21963,Active,Orphanet,ORPHA:477765,Group of disorders,[Clinical group],COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy,[COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy],,,,,,,,,, +GARD:21964,Active,Orphanet,ORPHA:477768,Group of disorders,[Clinical group],Moyamoya angiopathy,,,,,,,,,,, +GARD:21965,Active,Orphanet,ORPHA:477771,Group of disorders,[Category],Rare disorder with a moyamoya angiopathy,,,,,,,,,,, +GARD:21966,Active,Orphanet,ORPHA:477781,Disorder,[Disease],Primary condylar hyperplasia,[Type 1 condylar hyperplasia],"A rare temporomandibular joint anomaly characterized by progressive, asymmetrical, non-neoplastic overgrowth of a mandibular condyle. It is unilateral in most cases and leads to progressive facial asymmetry, mandibular deviation, articular dysfunction, and dental malocclusion.",,,,,,,,, +GARD:21967,Active,Orphanet,ORPHA:477794,Group of disorders,[Category],Syndromic constitutional thrombocytopenia,,,,,,,,,,, +GARD:21968,Active,Orphanet,ORPHA:477797,Group of disorders,[Category],Isolated constitutional thrombocytopenia,"[Constitutional thrombocytopenia without extra-hematopoietic manifestations, Non-syndromic constitutional thrombocytopenia]",,,,,,,,,, +GARD:21969,Active,Orphanet,ORPHA:477805,Group of disorders,[Category],Genetic cardiac malformation,,,,,,,,,,, +GARD:2197,Active,Orphanet,ORPHA:1957,Disorder,[Disease],Esthesioneuroblastoma,[Olfactory neuroblastoma],"Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.",,,,,,Olfactory neuroblastoma,TRUE,FALSE,Active +GARD:21970,Active,Orphanet,ORPHA:477808,Group of disorders,[Category],Other genetic dermis disorder,,,,,,,,,,, +GARD:21971,Active,Orphanet,ORPHA:477811,Group of disorders,[Category],Rare hypercholesterolemia,,,,,,,,,,, +GARD:21972,Active,Orphanet,ORPHA:480491,Subtype of disorder,[Clinical subtype],MYO5B-related progressive familial intrahepatic cholestasis,[MYO5B deficiency],,,,,,,,,, +GARD:21973,Active,Orphanet,ORPHA:480501,Disorder,[Morphological anomaly],Choledochal cyst,[Congenital cystic dilatation of the biliary tract],"A rare biliary tract disease characterized by congenital fusiform or cystic dilatation of intra- and/or extrahepatic bile ducts. Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, hepatomegaly, rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased.",,,,,,,,, +GARD:21974,Active,Orphanet,ORPHA:480506,Disorder,[Disease],Primary intrahepatic lithiasis,"[PIHL, Primary hepatolithiasis]","A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. The condition is rare in the Western world but frequent in eastern Asia. Patients usually present before the age of forty with right upper quadrant pain, jaundice, and/or fever. Stones are typically calcium bilirubinate (pigment) stones, and bacteria are present in the bile in almost all cases. Complications are biliary strictures, liver abscess, liver fibrosis, and secondary biliary cirrhosis. Association with cholangiocarcinoma has also been reported.",,,,,,,,, +GARD:21975,Active,Orphanet,ORPHA:480512,Disorder,[Disease],Idiopathic ductopenia,"[IAD, Idiopathic adult ductopenia]","A rare biliary tract disease characterized by loss of interlobular bile ducts resulting in chronic cholestasis, without any known cause. Loss of less than 50% of interlobular bile ducts is associated with a mild disease course, while loss of the majority of ducts results in a severe form, potentially leading to cirrhosis and liver failure. Patients typically present as young or middle-aged adults with episodic jaundice, pruritus, and elevated liver enzymes.",,,,,,,,, +GARD:21976,Active,Orphanet,ORPHA:480520,Disorder,[Malformation syndrome],Caroli syndrome,,"A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.",,,,,,,,, +GARD:21977,Active,Orphanet,ORPHA:480524,Disorder,[Disease],Idiopathic peliosis hepatis,[Idiopathic peliosis hepatitis],"A rare vascular liver disease characterized by widespread or focal cystic dilatation of sinusoidal blood-filled spaces of the liver without any known cause. Lesions can vary in diameter between few millimeters and several centimeters. The condition may remain asymptomatic or manifest with complications including rupture and intraperitoneal hemorrhage, hepatomegaly, portal hypertension, cholestasis, and liver failure.",,,,,,,,, +GARD:21978,Active,Orphanet,ORPHA:480528,Disorder,[Malformation syndrome],Lethal hydranencephaly-diaphragmatic hernia syndrome,,"Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.",,,,,,,,, +GARD:21979,Active,Orphanet,ORPHA:480531,Disorder,[Morphological anomaly],Congenital portosystemic shunt,[Congenital portosystemic venous fistula],"Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.",,,,,,,,, +GARD:2198,Active,Orphanet,ORPHA:51188,Disorder,[Disease],Ethylmalonic encephalopathy,,"Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.",[602473],,,,,Ethylmalonic encephalopathy,TRUE,FALSE,Active +GARD:21980,Active,Orphanet,ORPHA:480541,Disorder,[Disease],High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement,,"A rare aggressive B-cell non-Hodgkin lymphoma characterized by a rearrangement in MYC and BCL2 and/or BCL6 (so-called double-hit or triple-hit lymphoma). The category includes double-hit cases with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma, blastoid cases with a double-hit, and cases with a DLBCL, not otherwise specified, morphology with a double-hit. It refers only to de novo cases, not to lymphomas with a history of pre-existing or coexistent indolent lymphoma. Patients typically present with widespread disease, including involvement of lymph nodes, bone marrow, and central nervous system.",,,,,,,,, +GARD:21981,Active,Orphanet,ORPHA:480549,Group of disorders,[Category],Non-severe combined immunodeficiency,[Non-SCID],,,,,,,,,, +GARD:21982,Active,Orphanet,ORPHA:480553,Disorder,[Disease],Aneurysmal bone cyst,,"A rare bone tumor characterized by a benign, cystic lesion consisting of blood-filled cavities divided by fibrous septa containing fibroblasts, multinucleated osteoclast-type giant cells, and reactive woven bone. The tumor may arise de novo or secondarily, complicating other benign or malignant bone tumors. It most commonly arises during the first two decades of life and often affects the epiphyses of long bones and posterior elements of vertebral bodies. Patients typically present with pain and swelling, or neurological symptoms due to compression of nerve roots or the spinal cord by vertebral tumors.",,,,,,,,, +GARD:21983,Active,Orphanet,ORPHA:480556,Disorder,[Disease],Isolated neonatal sclerosing cholangitis,,"Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.",,,,,,,,, +GARD:21984,Active,Orphanet,ORPHA:480701,Disorder,[Disease],Facial diplegia with paresthesias,"[Facial diplegia with paresthesias variant of GBS, Facial diplegia with paresthesias variant of Guillain-Barré syndrome]","A rare localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. CSF analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy, although axonal polyneuropathy has been also described.",,,,,,,,, +GARD:21985,Active,Orphanet,ORPHA:481508,Group of disorders,[Category],Gastroenteric neuroendocrine neoplasm,,,,,,,,,,, +GARD:21986,Active,Orphanet,ORPHA:481671,Group of disorders,[Category],Type 1 interferonopathy of childhood,,,,,,,,,,, +GARD:21987,Active,Orphanet,ORPHA:481771,Group of disorders,[Category],Genetic alopecia,,,,,,,,,,, +GARD:21988,Active,Orphanet,ORPHA:482072,Group of disorders,[Clinical group],HTRA1-related cerebral small vessel disease,[HTRA1-related cerebral angiopathy],,,,,,,,,, +GARD:21989,Active,Orphanet,ORPHA:482092,Group of disorders,[Category],Rare idiopathic macular telangiectasia,,,,,,,,,,, +GARD:2199,Legacy,GARD,,,,,,,,,,,,Exencephaly,TRUE,FALSE,Active +GARD:21990,Active,Orphanet,ORPHA:482606,Disorder,[Malformation syndrome],X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,,"A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.",,,,,,,,, +GARD:21991,Active,Orphanet,ORPHA:485358,Disorder,[Malformation syndrome],Propylthiouracil embryofetopathy,"[PTU embryofetopathy, PTU embryopathy, Propylthiouracil embryopathy]","Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).",,,,,,,,, +GARD:21992,Active,Orphanet,ORPHA:485382,Group of disorders,[Category],Genetic non-acquired premature ovarian failure,,,,,,,,,,, +GARD:21993,Active,Orphanet,ORPHA:485405,Disorder,[Malformation syndrome],16p12.1p12.3 triplication syndrome,"[Tetrasomy 16p12.1p12.3, Trip(16)(p12.1p12.3)]","16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.",,,,,,,,, +GARD:21994,Active,Orphanet,ORPHA:485418,Disorder,[Disease],EMILIN-1-related connective tissue disease,,"A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures.",,,,,,,,, +GARD:21995,Active,Orphanet,ORPHA:485426,Disorder,[Disease],Isolated congenital hepatic fibrosis,[Isolated CHF],"A rare parenchymal liver disease characterized by progressive fibrosis of the portal tracts due to arrest of maturation of the ductal plate of the intrahepatic bile ducts. Clinically, it may manifest as a portal hypertensive, cholangitic, mixed, or latent form. Onset of symptoms is mostly in adolescence or young adulthood. Hepatocellular function is relatively well preserved.",,,,,,,,, +GARD:21996,Active,Orphanet,ORPHA:485631,Group of disorders,[Clinical group],Congenital bile acid synthesis defect,[BASD],,,,,,,,,, +GARD:21997,Active,Orphanet,ORPHA:486955,Group of disorders,[Category],Rare pediatric rheumatologic disease,,,,,,,,,,, +GARD:21998,Active,Orphanet,ORPHA:487809,Disorder,[Disease],Pediatric collagenous gastritis,[Childhood-onset collagenous gastritis],"A rare gastroenterologic disease characterized by the histopathological finding of a thickened (> 10 µm) gastric subepithelial collagen layer in association with an inflammatory infiltrate in the lamina propria. Patients typically present with upper abdominal pain and severe iron deficiency anemia. The condition is not commonly associated with autoimmune diseases, and involvement of the colon is less frequent than in the adult form. The disease takes a generally benign course with limited long-term morbidity and no increased mortality.",,,,,,,,, +GARD:21999,Active,Orphanet,ORPHA:487814,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,[CMT2 due to DGAT2 mutation],"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.",,,,,,,,, +GARD:22,Active,Orphanet,ORPHA:123,Disorder,[Disease],Björnstad syndrome,"[Deafness-pili torti-hypogonadism syndrome, Hearing loss-pili torti-hypogonadism syndrome]",Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti.,[262000],,,,,Bjornstad syndrome,TRUE,FALSE,Active +GARD:220,Active,Orphanet,ORPHA:563,Disorder,[Disease],Peripartum cardiomyopathy,[Postpartum cardiomyopathy],"Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.",,,,,,Peripartum cardiomyopathy,TRUE,FALSE,Active +GARD:22000,Active,Orphanet,ORPHA:488239,Disorder,[Disease],Acute macular neuroretinopathy,[AMNR],"A rare, acquired retinal disorder characterised by transient or permanent visual impairment accompanied by the presence of reddish-brown, wedge-shaped lesions in the macula, the apices of which tend to point towards the fovea. The lesions usually appear in a petalloid or tear-drop configuration. Patients tend to be young, Caucasian, and female.",,,,,,,,, +GARD:22001,Active,Orphanet,ORPHA:488437,Disorder,[Malformation syndrome],SIX2-related frontonasal dysplasia,[SIX2-related FND],"A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described.",,,,,,,,, +GARD:22002,Active,Orphanet,ORPHA:488586,Disorder,[Malformation syndrome],Congenital amyoplasia,[Amyoplasia congenita],"A rare sporadic arthrogryposis syndrome characterized by multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted, and sometimes dislocated. The knees may be fixed in extension or flexion, and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue.",,,,,,,,, +GARD:22003,Active,Orphanet,ORPHA:494424,Disorder,[Morphological anomaly],Extracranial carotid artery aneurysm,"[ECAA, ECCA]","A rare vascular anomaly characterized by dilation of the internal or the common carotid artery greater than 150% of the diameter of the normal, healthy vessel. Lesions of the carotid bifurcation are typically fusiform, degenerative in nature, and may occur bilaterally, while saccular aneurysms are usually unilateral and mostly located in the middle segment of the internal carotid artery. Symptomatic patients may present with a palpable pulsating mass, local pain, cerebral ischemia, peripheral nerve dysfunction, stridor, or voice changes due to local compression.",,,,,,,,, +GARD:22004,Active,Orphanet,ORPHA:494428,Disorder,[Disease],Idiopathic pleuroparenchymal fibroelastosis,"[IPPFE, Idiopathic pleuropulmonary fibroelastosis]","A rare idiopathic interstitial pneumonia characterized by prominent subpleural and parenchymal fibroelastosis and pleural fibrosis, predominantly involving the upper lobes. Signs and symptoms include non-productive cough, dyspnea, and recurrent respiratory infections. Pneumothorax is a frequently reported complication. Pulmonary function test reveals a restrictive pattern and reduced diffusing capacity. Computed tomography shows pleural thickening with signs of fibrosis (traction bronchiectasis, architectural distortion, and loss of volume), and reticulation.",,,,,,,,, +GARD:22005,Active,Orphanet,ORPHA:494448,Subtype of disorder,[Histopathological subtype],Vulvar squamous cell carcinoma,[Squamous cell carcinoma of the vulva],"A rare vulvar carcinoma characterized by an ulcer, nodule, macule, or pedunculated mass which is histologically composed of infiltrating islands of malignant squamous cells. Histological subtypes include keratinizing, non-keratinizing, basaloid, warty, and verrucous carcinomas. Some tumors are associated with human papilloma virus, smoking, high grade squamous intraepithelial lesion, chronic vulvar inflammatory disorders, or differentiated vulvar intraepithelial neoplasia. Patients may present with discharge, bleeding, or pain. Most important prognostic features are tumor depth and lymph node status.",,,,,,,,, +GARD:22006,Active,Orphanet,ORPHA:494451,Subtype of disorder,[Histopathological subtype],Vulvar basal cell carcinoma,[Basal cell carcinoma of vulva],"A rare vulvar carcinoma characterized by a slowly growing ulcer or nodule which is histologically composed of demarcated nests of palisaded basal cells originating at the epidermal-dermal junction. Occasionally, the tumor may be extensively pigmented. Patients most commonly present with pruritus. The lesion is usually treated by local excision, although groin metastases have been reported.",,,,,,,,, +GARD:22007,Active,Orphanet,ORPHA:494454,Subtype of disorder,[Histopathological subtype],Vulvar adenocarcinoma,[Adenocarcinoma of the vulva],"A rare vulvar carcinoma characterized by a malignant epithelial neoplasm of glandular origin and/or with glandular characteristics arising in the vulva, including adenocarcinoma of mammary gland type, sweat gland type, and intestinal type, as well as adenocarcinomas of the Bartholin glands and Paget disease of the vulva. Depending on the type of tumor and disease stage, patients may present with a solitary vulvar mass, bleeding, or (in the case of Paget disease) a pruritic, erythematous, eczematous lesion.",,,,,,,,, +GARD:22008,Active,Orphanet,ORPHA:494457,Group of disorders,[Category],Rare hyperkinetic movement disorder,,,,,,,,,,, +GARD:22009,Active,Orphanet,ORPHA:495818,Disorder,[Malformation syndrome],9q33.3q34.11 microdeletion syndrome,"[Del(9)(q33.3q34.11), Deletion 9q33.3q34.11, Monosomy 9q33.3q34.11]","A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias.",,,,,,,,, +GARD:22010,Active,Orphanet,ORPHA:495875,Disorder,[Malformation syndrome],Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,[Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons.",,,,,,,,, +GARD:22011,Active,Orphanet,ORPHA:495879,Disorder,[Morphological anomaly],Congenital agenesis of the scrotum,"[Congenital absence of the scrotum, Congenital scrotal absence, Congenital scrotal agenesis]","A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies.",,,,,,,,, +GARD:22012,Active,Orphanet,ORPHA:496689,Disorder,[Disease],Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,[Kyphoscoliosis-lateral tongue atrophy-HSP syndrome],"A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement.",,,,,,,,, +GARD:22013,Active,Orphanet,ORPHA:496916,Group of disorders,[Category],Rare genetic hyperkinetic movement disorder,,,,,,,,,,, +GARD:22014,Active,Orphanet,ORPHA:496924,Group of disorders,[Category],Non-inflammatory vasculopathy,,,,,,,,,,, +GARD:22015,Active,Orphanet,ORPHA:497623,Group of disorders,[Clinical group],C12ORF65-related combined oxidative phosphorylation defect,[C12ORF65-related COXPD],,,,,,,,,, +GARD:22016,Active,Orphanet,ORPHA:497737,Disorder,[Disease],Epidermolytic nevus,"[Epidermal nevus with epidermolytic hyperkeratosis, Epidermolytic epidermal nevus, Epidermolytic verrucous epidermal nevus]","A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the upper epidermis with coarse keratohyaline granules. There is no extra-cutaneous involvement. Affected individuals are at risk of parenting a child with bullous ichthyosiform erythroderma.",,,,,,,,, +GARD:22017,Active,Orphanet,ORPHA:498251,Disorder,[Disease],Menstrual cycle-dependent periodic fever,"[Luteal-phase-dependent febrile episode, Luteal-phase-dependent periodic fever, Menstrual cycle-dependent febrile episode]",A rare anomaly of puberty or/and menstrual cycle characterized by recurrent fevers (higher than 38 degrees Celsius) associated with the luteal phase of the menstrual cycle in women.,,,,,,,,, +GARD:22018,Active,Orphanet,ORPHA:498345,Group of disorders,[Category],Biliary atresia and associated disorders,,,,,,,,,,, +GARD:22019,Active,Orphanet,ORPHA:498350,Group of disorders,[Clinical group],Syndromic biliary atresia,,,,,,,,,,, +GARD:2202,Active,Orphanet,ORPHA:1962,Disorder,[Malformation syndrome],Exostoses-anetodermia-brachydactyly type E syndrome,,"An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.",[133690],,,,,Exostoses anetodermia brachydactyly type E,TRUE,FALSE,Retired +GARD:22020,Active,Orphanet,ORPHA:498445,Group of disorders,[Category],Genetic inflammatory or rheumatoid-like osteoarthropathy,,,,,,,,,,, +GARD:22021,Active,Orphanet,ORPHA:498448,Group of disorders,[Category],Overgrowth or tall stature syndrome with skeletal involvement,,,,,,,,,,, +GARD:22022,Active,Orphanet,ORPHA:498451,Group of disorders,[Category],Dysostosis with brachydactyly without extraskeletal manifestations,,,,,,,,,,, +GARD:22023,Active,Orphanet,ORPHA:498454,Group of disorders,[Category],Dysostosis with brachydactyly with extraskeletal manifestations,,,,,,,,,,, +GARD:22024,Active,Orphanet,ORPHA:498457,Group of disorders,[Category],Longitudinal limb defect,,,,,,,,,,, +GARD:22025,Active,Orphanet,ORPHA:498461,Group of disorders,[Category],Terminal transverse limb defect,,,,,,,,,,, +GARD:22026,Active,Orphanet,ORPHA:498464,Group of disorders,[Category],Non-syndromic preaxial polydactyly,,,,,,,,,,, +GARD:22027,Active,Orphanet,ORPHA:498467,Group of disorders,[Category],Non-syndromic postaxial polydactyly,,,,,,,,,,, +GARD:22028,Active,Orphanet,ORPHA:498470,Group of disorders,[Category],Non-syndromic complex polydactyly,,,,,,,,,,, +GARD:22029,Active,Orphanet,ORPHA:498474,Disorder,[Disease],Hyaline fibromatosis syndrome,,"A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhea, increased susceptibility to infections, and severe failure to thrive.",,,,,,,,, +GARD:22030,Active,Orphanet,ORPHA:498477,Group of disorders,[Category],Ectrodactyly with and without other manifestations,,,,,,,,,,, +GARD:22031,Active,Orphanet,ORPHA:498481,Disorder,[Malformation syndrome],LRP5-related primary osteoporosis,,"A rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.",,,,,,,,, +GARD:22032,Active,Orphanet,ORPHA:498488,Disorder,[Malformation syndrome],Overgrowth syndrome with 2q37 translocation,,"A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.",,,,,,,,, +GARD:22033,Active,Orphanet,ORPHA:498491,Group of disorders,[Category],Complete hemimelia,,,,,,,,,,, +GARD:22034,Active,Orphanet,ORPHA:498494,Disorder,[Morphological anomaly],Mirror-image polydactyly,,"A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies.",,,,,,,,, +GARD:22035,Active,Orphanet,ORPHA:498693,Disorder,[Disease],MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,[MYBPC1-related autosomal recessive non-lethal AMC syndrome],"A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fulness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia.",,,,,,,,, +GARD:22036,Active,Orphanet,ORPHA:499009,Disorder,[Disease],Congenital syphilis,"[MTCT of syphilis, Mother-to-child transmission of syphilis]","A rare teratologic disease caused by vertical transmission of the spirochete Treponema pallidum from an infected mother to the fetus, characterized by early congenital syphilis during the first two years of life (maculopapular rash progressing to desquamation, hepatosplenomegaly, osteochondritis, snuffles, and iritis), followed by late congenital syphilis with the classic Hutchinson's triad of Hutchinson's teeth, interstitial keratitis, and eighth nerve deafness. Additional signs may include saddle nose, saber shins, seizures, and mental retardation. Congenital syphilis can also result in stillbirth, neonatal death, and nonimmune hydrops.",,,,,,,,, +GARD:22037,Active,Orphanet,ORPHA:499047,Group of disorders,[Clinical group],Autoimmune/inflammatory optic neuropathy,,,,,,,,,,, +GARD:22038,Active,Orphanet,ORPHA:499085,Disorder,[Disease],Chronic relapsing inflammatory optic neuropathy,"[CRION, Chronic recurrent isolated optic neuritis]","A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.",,,,,,,,, +GARD:22039,Active,Orphanet,ORPHA:499096,Disorder,[Disease],Isolated optic neuritis,[ION],"A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disc appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.",,,,,,,,, +GARD:2204,Active,Orphanet+OMIM,OMIM:133700,Subtype of disorder,[Disease subtype],"Exostoses, multiple, type i","[multiple osteochondromas, multiple cartilaginous exostoses, osteochondromatosis, diaphyseal aclasis, Ext]","Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent ({32:Peterson, 1989}).\n\nTwo conditions in which multiple exostoses occur are metachondromatosis ({156250}) and the Langer-Giedion syndrome (LGS; {150230}); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP; {135100}), occipital horn syndrome ({304150}), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent ({40:Silverman, 1985}).\n\n<Subhead> Genetic Heterogeneity of Multiple Exostoses\n\nMultiple exostoses type II (EXT2; {133701}) is caused by mutation in the EXT2 gene ({608210}) on chromosome 11p11. Multiple exostoses type III (EXT3; {600209}) has been mapped to a locus on chromosome 19.",[133700],[321],[Multiple osteochondromas],[7035],,"Exostoses, multiple, type 1",TRUE,FALSE,Active +GARD:22040,Active,Orphanet,ORPHA:499103,Disorder,[Disease],Recurrent idiopathic neuroretinitis,[RINR],"A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.",,,,,,,,, +GARD:22041,Active,Orphanet,ORPHA:499107,Disorder,[Disease],Idiopathic optic perineuritis,[Idiopathic OPN],"A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc edema is observed in most cases. The condition is usually unilateral.",,,,,,,,, +GARD:22042,Active,Orphanet,ORPHA:499182,Disorder,[Disease],Pilomatrix carcinoma,"[Calcified epithelial carcinoma of Malherbe, Calcifying epitheliocarcinoma, Malignant pilomatricoma, Trichomatrical carcinoma]","A rare skin tumor characterized by an asymptomatic, solitary, often ulcerated nodule most commonly located in the face, involving the deep dermis, subcutaneous tissue, and skeletal muscle and fascia. Histopathologically, the lesion is composed of aggregates of atypical basaloid cells with numerous mitoses. Typical features include shadow cells, keratin cysts, and trichohyalin and keratohyalin granules. The tumor is locally aggressive and shows a tendency to recur after incomplete excision. Regional lymph node or visceral metastasis has been reported.",,,,,,,,, +GARD:22043,Active,Orphanet,ORPHA:500163,Disorder,[Malformation syndrome],Witteveen-Kolk syndrome,"[SIN3A-related intellectual disability syndrome, WITKOS]","A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.",,,,,,,,, +GARD:22044,Active,Orphanet,ORPHA:502305,Disorder,[Morphological anomaly],Cochleovestibular malformation,,"A rare otorhinolaryngological malformation characterized by varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence.",,,,,,,,, +GARD:22045,Active,Orphanet,ORPHA:502318,Disorder,[Morphological anomaly],Cochlear nerve deficiency,,"A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal.",,,,,,,,, +GARD:22046,Active,Orphanet,ORPHA:502369,Group of disorders,[Category],Squamous cell carcinoma of oral cavity and lip,,,,,,,,,,, +GARD:22047,Active,Orphanet,ORPHA:502430,Disorder,[Malformation syndrome],Metopic ridging-ptosis-facial dysmorphism syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.",,,,,,,,, +GARD:22048,Active,Orphanet,ORPHA:502437,Disorder,[Malformation syndrome],4q25 proximal deletion syndrome,"[Proximal del(4)(q25), Proximal monosomy 4q25]","A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.",,,,,,,,, +GARD:22049,Active,Orphanet,ORPHA:502499,Disorder,[Disease],Erythema multiforme major,"[Erythema exsudativum multiforme majus, Erythema multiforme majus]","A rare skin disease characterized most typically by targetoid papules with concentric color variation symmetrically distributed on the extensor surfaces of the extremities, accompanied by mucosal involvement (in particular the oral mucosa) in the form of initial erythema with edema, progressing to superficial erosions with pseudomembrane formation. Grouping of lesions around the elbows and knees and edema of the nail folds may also be observed. The condition is commonly proceeded by prodromal symptoms of malaise, fever, and myalgias, and is usually self-limiting, although recurrent disease is seen in a subset of patients.",,,,,,,,, +GARD:2205,Active,Orphanet+OMIM,OMIM:133701,Subtype of disorder,[Disease subtype],"Exostoses, multiple, type ii",,"Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see EXT1 ({133700}).",[133701],[321],[Multiple osteochondromas],[7035],,"Exostoses, multiple, type 2",TRUE,FALSE,Active +GARD:22050,Active,Orphanet,ORPHA:505208,Disorder,[Disease],3-methylglutaconic aciduria type 8,[MGA8],"A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.",,,,,,,,, +GARD:22051,Active,Orphanet,ORPHA:505395,Disorder,[Particular clinical situation in a disease or syndrome],Ventilator-induced diaphragmatic dysfunction,[VIDD],,,,,,,,,, +GARD:22052,Active,Orphanet,ORPHA:506052,Group of disorders,[Category],Neuroendocrine neoplasm of pancreas,"[PNEN, Pancreatic NEN, Pancreatic neuroendocrine neoplasm]",,,,,,,,,, +GARD:22053,Active,Orphanet,ORPHA:506060,Group of disorders,[Category],Functioning neuroendocrine tumor of pancreas,"[Functioning PNET, Functioning pancreatic NET, Functioning pancreatic neuroendocrine tumor, Functioning well-differentiated NEN of pancreas, Functioning well-differentiated neuroendocrine neoplasm of pancreas, Functioning well-differentiated pancreatic NEN, Functioning well-differentiated pancreatic neuroendocrine neoplasm]",,,,,,,,,, +GARD:22054,Active,Orphanet,ORPHA:506075,Disorder,[Disease],Non-functioning neuroendocrine tumor of pancreas,"[Non-functioning PNET, Non-functioning pancreatic NET, Non-functioning pancreatic neuroendocrine tumor, Non-functioning well-differentiated NEN of pancreas, Non-functioning well-differentiated neuroendocrine neoplasm of pancreas, Non-functioning well-differentiated pancreatic NEN, Non-functioning well-differentiated pancreatic neuroendocrine neoplasm]","A rare neuroendocrine tumor of pancreas characterized by a well-differentiated epithelial pancreatic neuroendocrine neoplasm measuring at least 0.5 cm, without distinct hormonal syndrome. Tumors <0.5 cm are called microadenomas. Microadenomatosis is the multifocal occurrence of microadenomas. Histopathologic examination shows an organoid growth pattern and expression of synaptophysin and chromogranin A on immunohistochemistry. Tumors are often discovered incidentally, or patients may present with symptoms related to local or metastatic tumor spread. Microadenomas are considered benign, while larger tumors may behave in a malignant manner with extrapancreatic spread, metastasis, or recurrence.",,,,,,,,, +GARD:22055,Active,Orphanet,ORPHA:506090,Disorder,[Disease],Serotonin-producing neuroendocrine tumor of pancreas,"[Serotonin-producing PNET, Serotonin-producing pancreatic NET, Serotonin-producing pancreatic neuroendocrine tumor]","A rare functioning neuroendocrine tumor of pancreas characterized by a typically well-differentiated neoplasm composed of cells expressing serotonin. Patients may present with atypical carcinoid syndrome with abdominal pain, diarrhea, weight loss, and/or flushing. Carcinoid syndrome is usually present only when there are liver metastases. The tumors tend to be larger than non-functioning tumors and are associated with a poorer prognosis because they are almost always metastatic.",,,,,,,,, +GARD:22056,Active,Orphanet,ORPHA:506098,Disorder,[Disease],Neuroendocrine carcinoma of pancreas,"[Pancreatic NEC, Pancreatic neuroendocrine carcinoma, Poorly-differentiated NEN of pancreas, Poorly-differentiated neuroendocrine neoplasm of pancreas, Poorly-differentiated pancreatic NEN, Poorly-differentiated pancreatic neuroendocrine neoplasm]","A rare neuroendocrine neoplasm of pancreas characterized by a high-grade malignant epithelial tumor with neuroendocrine differentiation. Based on histopathologic appearance, a small cell (composed of diffuse sheets of cells) and a large cell type (showing a nesting/trabecular pattern) are distinguished. Synaptophysin and chromogranin are positive on immunohistochemistry. The Ki-67 proliferation index is typically very high (>60 - 80%). Patients present with back pain, jaundice, and/or non-specific abdominal symptoms. Serum hormone activity is unusual. The tumor is highly aggressive with poor prognosis.",,,,,,,,, +GARD:22057,Active,Orphanet,ORPHA:506112,Disorder,[Disease],Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas,"[MiNEN of pancreas, Pancreatic MiNEN, Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm]","A rare neuroendocrine neoplasm of pancreas characterized by morphologically recognizable neuroendocrine and non-neuroendocrine components, each constituting at least 30% of the tumor volume. Based on histopathology, mixed ductal- and mixed acinar-neuroendocrine carcinomas are distinguished. Patients usually present with unspecific symptoms related to tumor growth and/or metastasis, although occurrence of Zollinger-Ellison syndrome has been reported. Resectability of the tumor is the most important prognostic factor.",,,,,,,,, +GARD:22058,Active,Orphanet,ORPHA:506136,Disorder,[Disease],Neuroendocrine neoplasm of esophagus,"[Esophageal NEN, Esophageal neuroendocrine neoplasm, NEN of esophagus]","A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. The tumors typically occur in the lower esophagus, often in association with Barrett mucosa. NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome.",,,,,,,,, +GARD:22059,Active,Orphanet,ORPHA:506207,Group of disorders,[Category],Rare disorder potentially indicated for transplant,,"A group of rare disorders with irreversible organ and/or system dysfunction(s), or the effects of dysfunction after alternative medical and surgical treatments have been utilized, for which the benefits of transplantation outweigh the risk of continuing alternative modalities.",,,,,,,,, +GARD:2206,Active,Orphanet+OMIM,OMIM:600209,Subtype of disorder,[Disease subtype],"Exostoses, multiple, type iii",,"For a phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see ({133700}).",[600209],[321],[Multiple osteochondromas],[7035],,"Exostoses, multiple, type 3",TRUE,FALSE,Active +GARD:22060,Active,Orphanet,ORPHA:506210,Group of disorders,[Category],Rare disorder potentially indicated for liver transplant,,,,,,,,,,, +GARD:22061,Active,Orphanet,ORPHA:506213,Group of disorders,[Category],Rare disorder potentially indicated for kidney transplant,,,,,,,,,,, +GARD:22062,Active,Orphanet,ORPHA:506216,Group of disorders,[Category],Rare disorder potentially indicated for bowel transplant,,,,,,,,,,, +GARD:22063,Active,Orphanet,ORPHA:506219,Group of disorders,[Category],Rare disorder potentially indicated for hematopoietic stem cell transplant,,,,,,,,,,, +GARD:22064,Active,Orphanet,ORPHA:506222,Group of disorders,[Category],Rare disorder potentially indicated for lung transplant,,,,,,,,,,, +GARD:22065,Active,Orphanet,ORPHA:506225,Group of disorders,[Category],Rare disorder potentially indicated for heart transplant,,,,,,,,,,, +GARD:22066,Active,Orphanet,ORPHA:506784,Subtype of disorder,[Clinical subtype],Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome,"[SJS/TEN overlap syndrome, Stevens-Johnson/TEN overlap syndrome, Stevens-Johnson/toxic epidermal necrolysis overlap syndrome]",,,,,,,,,, +GARD:22067,Active,Orphanet,ORPHA:508410,Disorder,[Morphological anomaly],Familial intestinal malrotation,,"A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies.",,,,,,,,, +GARD:22068,Active,Orphanet,ORPHA:508476,Disorder,[Malformation syndrome],Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,"[Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome, Hyaluronidase 2 deficiency]","A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.",,,,,,,,, +GARD:22069,Active,Orphanet,ORPHA:508501,Disorder,[Malformation syndrome],Oral-facial-digital syndrome with short stature and brachymesophalangy,"[OFD18, Oral-facial-digital syndrome type 18, Orofaciodigital syndrome type 18]","A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.",,,,,,,,, +GARD:2207,Active,Orphanet,ORPHA:322,Disorder,[Malformation syndrome],Exstrophy-epispadias complex,"[BEEC, Bladder exstrophy-epispadias-cloacal extrophy complex, EEC]","Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.","[258040, 600057]",,,,,Exstrophy-epispadias complex,TRUE,FALSE,Active +GARD:22070,Active,Orphanet,ORPHA:508533,Disorder,[Disease],Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,"[EXTL3-related neuro-immuno-skeletal dysplasia syndrome, Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts.",,,,,,,,, +GARD:22071,Active,Orphanet,ORPHA:508542,Disorder,[Disease],Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,[MYSM1 deficiency],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging.",,,,,,,,, +GARD:22072,Active,Orphanet,ORPHA:512017,Disorder,[Disease],Chronic lymphoproliferative disorder of natural killer cells,"[CLPD-NK, CNKL, Chronic NK lymphocytosis, Chronic NK-cell lymphocytosis, Chronic lymphoproliferative disorder of NK-cells, NK-cell lineage granular lymphocyte proliferative disorder]","A rare large granular lymphocyte leukemia characterized by persistent (> 6 months) natural killer cell lymphocytosis in the absence of clinical diagnosis of leukemia/lymphoma, autoimmune disease, or chronic viral infections. The clinical course is variable, but generally indolent. Patients often remain asymptomatic, or may present with clinical manifestations including vasculitic skin lesions, neutropenic infections, musculoskeletal symptoms, peripheral neuropathy, or splenomegaly.",,,,,,,,, +GARD:22073,Active,Orphanet,ORPHA:512034,Group of disorders,[Clinical group],Large granular lymphocyte leukemia,,,,,,,,,,, +GARD:22074,Active,Orphanet,ORPHA:512103,Disorder,[Disease],Autosomal recessive epidermolytic ichthyosis,[AREI],"A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous, amorphous structure.",,,,,,,,, +GARD:22075,Active,Orphanet,ORPHA:512260,Disorder,[Disease],Congenital cerebellar ataxia due to RNU12 mutation,,"A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.",,,,,,,,, +GARD:22076,Active,Orphanet,ORPHA:514352,Disorder,[Malformation syndrome],Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome,[Serpentine-like syndrome],"A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.",,,,,,,,, +GARD:22077,Active,Orphanet,ORPHA:514980,Group of disorders,[Clinical group],ATP13A2-related parkinsonism,,,,,,,,,,, +GARD:22078,Active,Orphanet,ORPHA:519264,Group of disorders,[Category],Inflammatory/autoimmune disorder involving the lacrimal system,,,,,,,,,,, +GARD:22079,Active,Orphanet,ORPHA:519266,Group of disorders,[Category],Rare disorder of the ocular adnexa,,,,,,,,,,, +GARD:2208,Legacy,GARD,,,,,,,,,,,,"Exsudative retinopathy familial, autosomal dominant",TRUE,FALSE,Retired +GARD:22080,Active,Orphanet,ORPHA:519268,Group of disorders,[Category],Rare disorder with ectropion,,,,,,,,,,, +GARD:22081,Active,Orphanet,ORPHA:519270,Group of disorders,[Category],Rare disorder with entropion,,,,,,,,,,, +GARD:22082,Active,Orphanet,ORPHA:519272,Group of disorders,[Category],Structural developmental eye defect,,,,,,,,,,, +GARD:22083,Active,Orphanet,ORPHA:519274,Group of disorders,[Category],Syndromic lacrimal system disorder,,,,,,,,,,, +GARD:22084,Active,Orphanet,ORPHA:519276,Group of disorders,[Category],Anterior segment developmental abnormality with extraocular manifestations,,,,,,,,,,, +GARD:22085,Active,Orphanet,ORPHA:519278,Group of disorders,[Category],Infective keratitis,,,,,,,,,,, +GARD:22086,Active,Orphanet,ORPHA:519280,Group of disorders,[Category],Rare conjunctivitis,,,,,,,,,,, +GARD:22087,Active,Orphanet,ORPHA:519282,Group of disorders,[Category],Rare corneal disorder,,,,,,,,,,, +GARD:22088,Active,Orphanet,ORPHA:519284,Group of disorders,[Category],Rare disorder of the anterior segment of the eye,,,,,,,,,,, +GARD:22089,Active,Orphanet,ORPHA:519286,Group of disorders,[Category],Rare disorder of the pupil,,,,,,,,,,, +GARD:2209,Legacy,GARD,,,,,,,,,,,,"Exsudative retinopathy familial, autosomal recessive",TRUE,FALSE,Retired +GARD:22090,Active,Orphanet,ORPHA:519288,Group of disorders,[Category],Rare disorder with corneal involvement as a major feature,,,,,,,,,,, +GARD:22091,Active,Orphanet,ORPHA:519290,Group of disorders,[Category],Rare inflammatory/autoimmune corneal disorder,,,,,,,,,,, +GARD:22092,Active,Orphanet,ORPHA:519292,Group of disorders,[Category],Syndromic ectopia lentis,,,,,,,,,,, +GARD:22093,Active,Orphanet,ORPHA:519294,Group of disorders,[Category],Syndromic microspherophakia,,,,,,,,,,, +GARD:22094,Active,Orphanet,ORPHA:519296,Group of disorders,[Category],Rare disorder with pigmented sclera,,,,,,,,,,, +GARD:22095,Active,Orphanet,ORPHA:519298,Group of disorders,[Category],Rare scleral disorder,,,,,,,,,,, +GARD:22096,Active,Orphanet,ORPHA:519300,Group of disorders,[Category],Isolated chorioretinal dystrophy,,,,,,,,,,, +GARD:22097,Active,Orphanet,ORPHA:519302,Group of disorders,[Category],Isolated macular dystrophy,,,,,,,,,,, +GARD:22098,Active,Orphanet,ORPHA:519304,Group of disorders,[Category],Isolated vitreoretinopathy,,,,,,,,,,, +GARD:22099,Active,Orphanet,ORPHA:519306,Group of disorders,[Category],Isolated progressive inherited retinal disorder,,,,,,,,,,, +GARD:221,Active,Orphanet,ORPHA:217604,Group of disorders,[Category],Dilated cardiomyopathy,,,,,,,,Dilated cardiomyopathy,TRUE,FALSE,Active +GARD:2210,Legacy,GARD,,,,,,,,,,,,"Exsudative retinopathy familial, X-linked, recessive",TRUE,FALSE,Retired +GARD:22100,Active,Orphanet,ORPHA:519309,Group of disorders,[Category],Rare choroidal disorder,,,,,,,,,,, +GARD:22101,Active,Orphanet,ORPHA:519311,Group of disorders,[Category],Rare disorder of the posterior segment of the eye,,,,,,,,,,, +GARD:22102,Active,Orphanet,ORPHA:519313,Group of disorders,[Category],Rare macular disorder,,,,,,,,,,, +GARD:22103,Active,Orphanet,ORPHA:519315,Group of disorders,[Category],Rare retinal disorder,,,,,,,,,,, +GARD:22104,Active,Orphanet,ORPHA:519317,Group of disorders,[Category],Rare retinal vasculopathy,,,,,,,,,,, +GARD:22105,Active,Orphanet,ORPHA:519319,Group of disorders,[Category],Isolated stationary inherited retinal disorder,,,,,,,,,,, +GARD:22106,Active,Orphanet,ORPHA:519321,Group of disorders,[Category],Syndromic chorioretinal dystrophy,,,,,,,,,,, +GARD:22107,Active,Orphanet,ORPHA:519323,Group of disorders,[Category],Syndromic macular dystrophy,,,,,,,,,,, +GARD:22108,Active,Orphanet,ORPHA:519325,Group of disorders,[Category],Syndromic inherited retinal disorder,[Syndromic retinal dystrophy],,,,,,,,,, +GARD:22109,Active,Orphanet,ORPHA:519327,Group of disorders,[Category],Syndromic vitreoretinopathy,,,,,,,,,,, +GARD:2211,Legacy,GARD,,,,,,,,,,,,"Exudative retinopathy, familial",TRUE,FALSE,Retired +GARD:22110,Active,Orphanet,ORPHA:519329,Group of disorders,[Category],Rare disorder involving multiple structures of the eye,,,,,,,,,,, +GARD:22111,Active,Orphanet,ORPHA:519331,Group of disorders,[Category],Secondary early-onset glaucoma,,,,,,,,,,, +GARD:22112,Active,Orphanet,ORPHA:519333,Group of disorders,[Category],Congenital optic disc excavation,,,,,,,,,,, +GARD:22113,Active,Orphanet,ORPHA:519337,Group of disorders,[Category],Disorder with optic nerve compression,,,,,,,,,,, +GARD:22114,Active,Orphanet,ORPHA:519339,Group of disorders,[Category],Pseudopapilledema,,,,,,,,,,, +GARD:22115,Active,Orphanet,ORPHA:519341,Group of disorders,[Category],Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature,,,,,,,,,,, +GARD:22116,Active,Orphanet,ORPHA:519343,Group of disorders,[Category],Rare ophthalmic disorder with cortical involvement,,,,,,,,,,, +GARD:22117,Active,Orphanet,ORPHA:519345,Group of disorders,[Category],Rare disorder with optic disc malformation,,,,,,,,,,, +GARD:22118,Active,Orphanet,ORPHA:519347,Group of disorders,[Category],Rare neuromuscular disorder with ocular motility/alignment anomaly,,,,,,,,,,, +GARD:22119,Active,Orphanet,ORPHA:519349,Group of disorders,[Category],Rare ophthalmic disorder with cranial nerve involvement,,,,,,,,,,, +GARD:22120,Active,Orphanet,ORPHA:519351,Group of disorders,[Category],Rare optic nerve disorder,,,,,,,,,,, +GARD:22121,Active,Orphanet,ORPHA:519353,Group of disorders,[Category],Rare trochlear nerve disorder,,,,,,,,,,, +GARD:22122,Active,Orphanet,ORPHA:519355,Group of disorders,[Category],Rare ocular motility/alignment disorder,,,,,,,,,,, +GARD:22123,Active,Orphanet,ORPHA:519386,Disorder,[Morphological anomaly],Isolated congenital entropion,,"A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.",,,,,,,,, +GARD:22124,Active,Orphanet,ORPHA:519390,Disorder,[Disease],Isolated blepharochalasis,,"A rare palpebral disorder characterized by recurrent episodes of painless eyelid edema. It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudoepicanthal folds, lacrimal gland prolapse, or ptosis.",,,,,,,,, +GARD:22125,Active,Orphanet,ORPHA:519392,Disorder,[Disease],Isolated iridoschisis,,"A rare disorder of the anterior segment of the eye characterized by spontaneous separation of the anterior layer of the iris stroma from the posterior stroma and muscle layers. The anterior layer then splits into strands, and the free ends float freely in the anterior chamber. The condition usually affects patients in the seventh decade of life and is often associated with glaucoma. It may begin on one side but is typically a bilateral disease. The inferior part of the iris is most commonly involved.",,,,,,,,, +GARD:22126,Active,Orphanet,ORPHA:519396,Disorder,[Morphological anomaly],Isolated microspherophakia,,"A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma.",,,,,,,,, +GARD:22127,Active,Orphanet,ORPHA:519398,Disorder,[Morphological anomaly],Isolated foveal hypoplasia,,"A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.",,,,,,,,, +GARD:22128,Active,Orphanet,ORPHA:519400,Disorder,[Morphological anomaly],Peripapillary staphyloma,,"A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon.",,,,,,,,, +GARD:22129,Active,Orphanet,ORPHA:519402,Disorder,[Morphological anomaly],Isolated megalopapilla,,"A rare ophthalmic disorder characterized by an abnormally large optic disc (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disc, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla.",,,,,,,,, +GARD:2213,Active,Orphanet,ORPHA:1964,Disorder,[Malformation syndrome],Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,[Char-Douglas-Dungan syndrome],"Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.",[133750],,,,,Extrasystoles short stature hyperpigmentation microcephaly,TRUE,FALSE,Active +GARD:22130,Active,Orphanet,ORPHA:519404,Disorder,[Morphological anomaly],Optic disc pit,,"A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life.",,,,,,,,, +GARD:22131,Active,Orphanet,ORPHA:519406,Disorder,[Disease],Thygeson superficial punctate keratitis,[Thygeson superficial punctate keratopathy],"A rare disorder of the anterior segment of the eye characterized by chronic recurrent epithelial keratitis manifesting with groupings of small, slightly elevated, ovoid, grayish-white intraepithelial opacities, usually located in the central cornea. Patients present with photophobia, tearing, foreign body sensation, and blurred vision. The condition is typically bilateral, takes a relapsing-remitting course, and is mostly self-limiting after a few years.",,,,,,,,, +GARD:22132,Active,Orphanet,ORPHA:519408,Disorder,[Disease],Mooren ulcer,,"A rare disorder of the anterior segment of the eye characterized by a unilateral or bilateral rapidly progressive, intractable, painful, ulcerative keratitis which initially affects the peripheral cornea and may spread circumferentially and then centrally. The destructive process involves stromal corneal tissue only, leaving the epithelium and endothelium largely unaffected. There is no involvement of the adjacent sclera. The condition can be complicated by glaucoma, cataract, and perforation.",,,,,,,,, +GARD:22133,Active,Orphanet,ORPHA:519410,Disorder,[Disease],Terrien marginal degeneration,,"A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, asymmetric, usually non-inflammatory degeneration of the peripheral cornea, resulting in stromal thinning, vascularization, lipid deposition, and against-the-rule astigmatism with decreased visual acuity. Degeneration typically involves the superior aspect of the cornea first and extends circumferentially, leading to circumferential ectasia of the peripheral cornea. Opacification of the central cornea may occur at a very advanced stage. In rare cases, the condition is complicated by perforation.",,,,,,,,, +GARD:22134,Active,Orphanet,ORPHA:519930,Disorder,[Disease],Fungal keratitis,"[Keratomycosis, Mycotic keratitis]","A rare disorder of the anterior segment of the eye characterized by ocular infection by human-pathogenic fungi, most commonly Aspergillus, Candida, or Fusarium species, which gain access into the corneal stroma through a defect in the corneal epithelium. Risk factors include trauma, ocular surface disease, contact lenses, or immunocompromised state. Patients present with pain, foreign body sensation, redness, photophobia, tearing, secretion, or blurred vision. The condition may be complicated by corneal destruction and perforation, endophthalmitis, scleritis, and panophthalmitis.",,,,,,,,, +GARD:22135,Active,Orphanet,ORPHA:520814,Group of disorders,[Category],Rare disorder of the visual organs,,,,,,,,,,, +GARD:22136,Active,Orphanet,ORPHA:520817,Group of disorders,[Category],Isolated inherited retinal disorder,,,,,,,,,,, +GARD:22137,Active,Orphanet,ORPHA:521123,Disorder,[Disease],Radiation-induced plexopathy,,"A rare radiation-induced disorder characterized by impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paresthesia, followed by weakness, atrophy, and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paresthesia, pain, and weakness, and are more often bilateral.",,,,,,,,, +GARD:22138,Active,Orphanet,ORPHA:521127,Disorder,[Disease],Osteoradionecrosis of the mandible,,"A rare radiation-induced disorder characterized by exposed irradiated bone that fails to heal over a period of three months without evidence of persisting or recurrent tumor. Patients present with pain, dysesthesia, dysgeusia, fetor oris, trismus, ulceration or necrosis of the mucosa with exposure of necrotic bone, and local suppuration. Complications include pathological fractures, formation of intra- or extra-oral fistulae, and infection. MRI shows cortical destruction, abnormal bone marrow signal, and irregular contrast enhancement.",,,,,,,,, +GARD:22139,Active,Orphanet,ORPHA:521132,Group of disorders,[Category],Radiation-induced disorder,,,,,,,,,,, +GARD:22140,Active,Orphanet,ORPHA:521232,Group of disorders,[Category],Genetic primary orthostatic disorder,,,,,,,,,,, +GARD:22141,Active,Orphanet,ORPHA:521236,Group of disorders,[Category],Primary orthostatic disorder,,,,,,,,,,, +GARD:22142,Active,Orphanet,ORPHA:521308,Disorder,[Malformation syndrome],Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome,,"A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.",,,,,,,,, +GARD:22143,Active,Orphanet,ORPHA:521411,Disorder,[Disease],Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,[Autosomal recessive axonal CMT due to copper metabolism defect],"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.",,,,,,,,, +GARD:22144,Active,Orphanet,ORPHA:521432,Disorder,[Disease],Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,,"A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.",,,,,,,,, +GARD:22145,Active,Orphanet,ORPHA:521445,Disorder,[Malformation syndrome],Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,,,,,,,,,,, +GARD:22146,Active,Orphanet,ORPHA:521450,Disorder,[Disease],LAMA5-related multisystemic syndrome,,"A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.",,,,,,,,, +GARD:22147,Active,Orphanet,ORPHA:522037,Disorder,[Disease],Primary autoimmune enteropathy,,"A rare intestinal disease characterized by immune-mediated injury of the intestinal mucosa, leading to severe, chronic, intractable diarrhea, malabsorption, and severe weight loss or failure to thrive. Characteristic histologic findings in the small intestine include partial or complete blunting of the villi, deep crypt lymphocytosis, increased crypt apoptosis, and minimal surface intraepithelial lymphocytosis. In addition, the stomach, colon, and esophagus may also be involved. Circulating autoantibodies against enterocytes and/or goblet cells are found in many, but not all, patients. The diagnosis requires exclusion of other causes of villous atrophy.",,,,,,,,, +GARD:22148,Active,Orphanet,ORPHA:522043,Group of disorders,[Clinical group],Syndromic autoimmune enteropathy,,,,,,,,,,, +GARD:22149,Active,Orphanet,ORPHA:522504,Group of disorders,[Category],Rare genetic disorder of the visual organs,,,,,,,,,,, +GARD:22150,Active,Orphanet,ORPHA:522506,Group of disorders,[Category],Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature,,,,,,,,,,, +GARD:22151,Active,Orphanet,ORPHA:522508,Group of disorders,[Category],Rare genetic ophthalmic disorder with cortical involvement,,,,,,,,,,, +GARD:22152,Active,Orphanet,ORPHA:522510,Group of disorders,[Category],Rare genetic ophthalmic disorder with cranial nerve involvement,,,,,,,,,,, +GARD:22153,Active,Orphanet,ORPHA:522512,Group of disorders,[Category],Rare genetic optic nerve disorder,,,,,,,,,,, +GARD:22154,Active,Orphanet,ORPHA:522514,Group of disorders,[Category],Congenital optic disc excavation of genetic origin,,,,,,,,,,, +GARD:22155,Active,Orphanet,ORPHA:522516,Group of disorders,[Category],Rare genetic ocular motility/alignment disorder,,,,,,,,,,, +GARD:22156,Active,Orphanet,ORPHA:522518,Group of disorders,[Category],Rare genetic disorder with strabismus,,,,,,,,,,, +GARD:22157,Active,Orphanet,ORPHA:522520,Group of disorders,[Category],Syndromic genetic disorder with strabismus,,,,,,,,,,, +GARD:22158,Active,Orphanet,ORPHA:522522,Group of disorders,[Category],Rare genetic neuromuscular disorder with ocular motility/alignment anomaly,,,,,,,,,,, +GARD:22159,Active,Orphanet,ORPHA:522524,Group of disorders,[Category],Rare genetic disorder of the ocular adnexa,,,,,,,,,,, +GARD:2216,Active,Orphanet,ORPHA:3172,Disorder,[Malformation syndrome],Eyebrow duplication-syndactyly syndrome,,"Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.",[227210],,,,,"Eyebrows duplication of, with stretchable skin and syndactyly",TRUE,FALSE,Active +GARD:22160,Active,Orphanet,ORPHA:522526,Group of disorders,[Category],Rare genetic palpebral disorder,,,,,,,,,,, +GARD:22161,Active,Orphanet,ORPHA:522528,Group of disorders,[Category],Rare genetic eyelid malposition disorder,,,,,,,,,,, +GARD:22162,Active,Orphanet,ORPHA:522530,Group of disorders,[Category],Rare genetic disorder with entropion,,,,,,,,,,, +GARD:22163,Active,Orphanet,ORPHA:522532,Group of disorders,[Category],Rare genetic disorder of the lacrimal apparatus,,,,,,,,,,, +GARD:22164,Active,Orphanet,ORPHA:522534,Group of disorders,[Category],Lacrimal drainage system anomaly of genetic origin,,,,,,,,,,, +GARD:22165,Active,Orphanet,ORPHA:522536,Group of disorders,[Category],Structural developmental eye defect of genetic origin,,,,,,,,,,, +GARD:22166,Active,Orphanet,ORPHA:522538,Group of disorders,[Category],Rare genetic disorder of the anterior segment of the eye,,,,,,,,,,, +GARD:22167,Active,Orphanet,ORPHA:522540,Group of disorders,[Category],Anterior segment developmental anomaly of genetic origin,,,,,,,,,,, +GARD:22168,Active,Orphanet,ORPHA:522542,Group of disorders,[Category],Rare genetic disorder with conjunctival involvement as a major feature,,,,,,,,,,, +GARD:22169,Active,Orphanet,ORPHA:522546,Group of disorders,[Category],Rare genetic disorder with lens opacification,,,,,,,,,,, +GARD:22170,Active,Orphanet,ORPHA:522548,Group of disorders,[Category],Syndromic genetic cataract,,,,,,,,,,, +GARD:22171,Active,Orphanet,ORPHA:522550,Group of disorders,[Category],Lens size anomaly of genetic origin,,,,,,,,,,, +GARD:22172,Active,Orphanet,ORPHA:522552,Group of disorders,[Category],Lens position anomaly of genetic origin,,,,,,,,,,, +GARD:22173,Active,Orphanet,ORPHA:522554,Group of disorders,[Category],Syndromic genetic ectopia lentis,,,,,,,,,,, +GARD:22174,Active,Orphanet,ORPHA:522556,Group of disorders,[Category],Rare genetic corneal disorder,,,,,,,,,,, +GARD:22175,Active,Orphanet,ORPHA:522558,Group of disorders,[Category],Rare genetic disorder with corneal involvement as a major feature,,,,,,,,,,, +GARD:22176,Active,Orphanet,ORPHA:522560,Group of disorders,[Category],Genetic corneal dystrophy,,,,,,,,,,, +GARD:22177,Active,Orphanet,ORPHA:522562,Group of disorders,[Category],Genetic superficial corneal dystrophy,,,,,,,,,,, +GARD:22178,Active,Orphanet,ORPHA:522564,Group of disorders,[Category],Syndromic genetic keratoconus,,,,,,,,,,, +GARD:22179,Active,Orphanet,ORPHA:522566,Group of disorders,[Category],Rare genetic inflammatory/autoimmune corneal disorder,,,,,,,,,,, +GARD:2218,Legacy,GARD,,,,,,,,,,,,Facial asymmetry temporal seizures,TRUE,FALSE,Retired +GARD:22180,Active,Orphanet,ORPHA:522568,Group of disorders,[Category],Rare genetic disorder of the pupil,,,,,,,,,,, +GARD:22181,Active,Orphanet,ORPHA:522570,Group of disorders,[Category],Rare genetic disorder of the posterior segment of the eye,,,,,,,,,,, +GARD:22182,Active,Orphanet,ORPHA:522572,Group of disorders,[Category],Rare genetic retinal disorder,,,,,,,,,,, +GARD:22183,Active,Orphanet,ORPHA:522574,Group of disorders,[Category],Rare genetic macular disorder,,,,,,,,,,, +GARD:22184,Active,Orphanet,ORPHA:522576,Group of disorders,[Category],Rare genetic retinal vasculopathy,,,,,,,,,,, +GARD:22185,Active,Orphanet,ORPHA:522578,Group of disorders,[Category],Rare genetic disorder involving multiple structures of the eye,,,,,,,,,,, +GARD:22186,Active,Orphanet,ORPHA:522580,Group of disorders,[Category],Secondary early-onset glaucoma of genetic origin,,,,,,,,,,, +GARD:22187,Active,Orphanet,ORPHA:522584,Group of disorders,[Category],Rare genetic choroidal disorder,,,,,,,,,,, +GARD:22188,Active,Orphanet,ORPHA:523000,Group of disorders,[Category],Pediatric-onset glaucoma,,,,,,,,,,, +GARD:22189,Active,Orphanet,ORPHA:525677,Group of disorders,[Category],Genetic congenital malformation of the eye with glaucoma as a major feature,,,,,,,,,,, +GARD:22190,Active,Orphanet,ORPHA:525731,Disorder,[Disease],Pediatric-onset Graves disease,[Pediatric-onset Basedow disease],"A rare endocrine disease characterized by the presence of serum autoantibodies against thyroid-stimulating hormone receptors, leading to increased thyroid hormone production and secretion, causing diffuse toxic goiter. Patients present in childhood with signs of thyrotoxicosis (such as tachycardia, weight loss, hand tremor, and sweating), diffuse enlargement of the thyroid gland, and orbitopathy. Additional signs and symptoms include decreased academic and athletic performance, accelerated growth, restlessness, fatigue, sensitivity to heat, and amenorrhea, among others.",,,,,,,,, +GARD:22191,Active,Orphanet,ORPHA:525738,Disorder,[Disease],Prepubertal anorexia nervosa,,"A rare neurologic disease with psychiatric involvement characterized by significantly lower-than-expected body weight due to voluntary reduction of food intake, intense fear of becoming overweight, and a distorted body image, in prepubescent children. Secondary manifestations include growth, developmental, and pubertal delay, decreased bone density, severe metabolic and endocrine dysfunction, cognitive impairment, depression, deterioration of academic or athletic performance, as well as difficulties in familial and peer relations, among others.",,,,,,,,, +GARD:22192,Active,Orphanet,ORPHA:527276,Disorder,[Disease],Encephalopathy due to mitochondrial and peroxisomal fission defect,,"A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.",,,,,,,,, +GARD:22193,Active,Orphanet,ORPHA:527468,Disorder,[Malformation syndrome],Diaphragmatic hernia-short bowel-asplenia syndrome,,"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.",,,,,,,,, +GARD:22194,Active,Orphanet,ORPHA:528623,Disorder,[Disease],Hereditary angioedema with C1Inh deficiency,"[HAE with C1 inhibitor deficiency, HAE with C1Inh deficiency, Hereditary angioneurotic edema with C1 inhibitor deficiency, Hereditary angioneurotic edema with C1Inh deficiency]","A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases.",,,,,,,,, +GARD:22195,Active,Orphanet,ORPHA:528647,Disorder,[Disease],Hereditary angioedema with normal C1Inh,"[HAE with normal C1 inhibitor, HAE with normal C1Inh, Hereditary angioedema with normal C1 inhibitor, Hereditary angioneurotic edema with normal C1 inhibitor, Hereditary angioneurotic edema with normal C1Inh]","A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.",,,,,,,,, +GARD:22196,Active,Orphanet,ORPHA:528663,Disorder,[Disease],Acquired angioedema with C1Inh deficiency,"[Acquired angioneurotic edema with C1 inhibitor deficiency, Acquired angioneurotic edema with C1Inh deficiency]","A rare non-histaminic angioedema characterized by potentially life-threatening episodes of edema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting edema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa, and severe edema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable.",,,,,,,,, +GARD:22197,Active,Orphanet,ORPHA:529799,Disorder,[Clinical syndrome],Acute bilirubin encephalopathy,"[ABE, Acute kernicterus]","A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.",,,,,,,,, +GARD:22198,Active,Orphanet,ORPHA:529808,Disorder,[Clinical syndrome],Chronic bilirubin encephalopathy,"[BIND, Bilirubin-induced neurological dysfunction, CBE, KSD, Kernicterus spectrum disorder]","A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.",,,,,,,,, +GARD:22199,Active,Orphanet,ORPHA:529831,Disorder,[Particular clinical situation in a disease or syndrome],Letrozole toxicity,,,,,,,,,,, +GARD:2220,Legacy,GARD,,,,,,,,,,,,Facial clefting corpus callosum agenesis,TRUE,FALSE,Active +GARD:22200,Active,Orphanet,ORPHA:529852,Disorder,[Disease],Combined hepatocellular carcinoma and cholangiocarcinoma,"[Combined HCC-CC, Combined hepatocellular-cholangiocarcinoma, Hepatocholangiocarcinoma, cHCC-CC]","A rare hepatic tumor characterized by the presence of both hepatocytic and cholangiocytic differentiation within a primary liver carcinoma. The lesion commonly arises in the context of chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Typical manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. The entity has been associated with a worse prognosis than hepatocellular carcinoma after resection.",,,,,,,,, +GARD:22201,Active,Orphanet,ORPHA:529864,Disorder,[Disease],Secondary erythromelalgia,[Secondary erythermalgia],,,,,,,,,, +GARD:22202,Active,Orphanet,ORPHA:529962,Disorder,[Malformation syndrome],17q24.2 microdeletion syndrome,[Del(17)(q24)],"A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.",,,,,,,,, +GARD:22203,Active,Orphanet,ORPHA:529974,Group of disorders,[Clinical group],Immune dysregulation with inflammatory bowel disease,,,,,,,,,,, +GARD:22204,Active,Orphanet,ORPHA:529977,Disorder,[Disease],Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,,"A rare genetic immune disease characterized by early onset of recurrent bacterial, viral, and fungal infections, chronic inflammatory bowel disease, gastritis, and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia.",,,,,,,,, +GARD:22205,Active,Orphanet,ORPHA:529980,Disorder,[Disease],Inflammatory bowel disease-recurrent sinopulmonary infections syndrome,[NFAT5 haploinsufficiency],"A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells.",,,,,,,,, +GARD:22206,Active,Orphanet,ORPHA:530033,Disorder,[Morphological anomaly],Dermoid or epidermoid cyst of the central nervous system,[Dermoid or epidermoid cyst of the CNS],"A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.",,,,,,,,, +GARD:22207,Active,Orphanet,ORPHA:530298,Subtype of disorder,[Clinical subtype],Progressive myoclonic epilepsy with neuroserpin inclusion bodies,[Early onset familial encephalopathy with neuroserpin inclusion bodies],,,,,,,,,, +GARD:22208,Active,Orphanet,ORPHA:530303,Subtype of disorder,[Clinical subtype],Progressive dementia with neuroserpin inclusion bodies,[Late-onset familial encephalopathy with neuroserpin inclusion bodies],,,,,,,,,, +GARD:22209,Active,Orphanet,ORPHA:530313,Group of disorders,[Clinical group],PIK3CA-related overgrowth syndrome,[PROS],,,,,,,,,, +GARD:2221,Active,Orphanet,ORPHA:1969,Disorder,[Malformation syndrome],Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,"[FACES syndrome, Friedman-Goodman syndrome]","Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.",,,,,,FACES syndrome,TRUE,FALSE,Active +GARD:22210,Active,Orphanet,ORPHA:530792,Disorder,[Disease],RELA fusion-positive ependymoma,[Supratentorial C11ORF95-RELA fused ependymoma],"A rare ependymal tumor characterized by the presence of a RELA fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.",,,,,,,,, +GARD:22211,Active,Orphanet,ORPHA:530983,Disorder,[Disease],Lamb-Shaffer syndrome,[SOX5 haploinsufficiency syndrome],"A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures.",,,,,,,,, +GARD:22212,Active,Orphanet,ORPHA:531151,Disorder,[Malformation syndrome],9q21.13 microdeletion syndrome,,"A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.",,,,,,,,, +GARD:22213,Active,Orphanet,ORPHA:536391,Group of disorders,[Clinical group],RASopathy,,,,,,,,,,, +GARD:22214,Active,Orphanet,ORPHA:536471,Disorder,[Disease],Spondylodysplastic Ehlers-Danlos syndrome,"[Spondylodysplastic EDS, spEDS]","A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later_onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype.",,,,,,,,, +GARD:22215,Active,Orphanet,ORPHA:536516,Disorder,[Disease],Myopathic Ehlers-Danlos syndrome,"[EDS/myopathy overlap syndrome, Myopathic EDS]","A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.",,,,,,,,, +GARD:22216,Active,Orphanet,ORPHA:1900,Subtype of disorder,[Clinical subtype],Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,"[Cutis hyperelastica, EDS VIA, Ehlers-Danlos syndrome type 6A, Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency, Lysyl hydroxylase-deficient EDS, Ocular-scoliotic EDS, kEDS-PLOD1]","A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low‐set ears, epicanthal folds, down‐slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.",[225400],,,,,,,, +GARD:22217,Active,Orphanet,ORPHA:537072,Subtype of disorder,[Clinical subtype],PLG-related hereditary angioedema with normal C1Inh,[PLG-related HAE with normal C1 inhibitor],,,,,,,,,, +GARD:22218,Active,Orphanet,ORPHA:538101,Disorder,[Disease],Congenital axonal neuropathy with encephalopathy,,"A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.",,,,,,,,, +GARD:22219,Active,Orphanet,ORPHA:538238,Group of disorders,[Category],Neurological channelopathy of the central nervous system due to a genetic chloride channel defect,,,,,,,,,,, +GARD:2222,Active,Orphanet,ORPHA:1970,Disorder,[Malformation syndrome],Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.",[220219],,,,,"Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy",TRUE,FALSE,Retired +GARD:22220,Active,Orphanet,ORPHA:538863,Subtype of disorder,[Clinical subtype],Classic pyoderma gangrenosum,[Ulcerative pyoderma gangrenosum],"A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.",,,,,,,,, +GARD:22221,Active,Orphanet,ORPHA:538866,Subtype of disorder,[Clinical subtype],Pustular pyoderma gangrenosum,,"A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.",,,,,,,,, +GARD:22222,Active,Orphanet,ORPHA:538869,Subtype of disorder,[Clinical subtype],Bullous pyoderma gangrenosum,[Phemphigoid pyoderma gangrenosum],"A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.",,,,,,,,, +GARD:22223,Active,Orphanet,ORPHA:538872,Subtype of disorder,[Clinical subtype],Vegetative pyoderma gangrenosum,[Granulomatous pyoderma gangrenosum],"A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.",,,,,,,,, +GARD:22224,Active,Orphanet,ORPHA:541443,Disorder,[Morphological anomaly],Anomalous aortic origin of the left coronary artery,"[AOLCA, L-ACAOS, Left coronary artery from right aortic sinus]","A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia.",,,,,,,,, +GARD:22225,Active,Orphanet,ORPHA:541454,Disorder,[Morphological anomaly],Anomalous aortic origin of the right coronary artery,"[AORCA, R-ACAOS, Right coronary artery from left aortic sinus]","A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present.",,,,,,,,, +GARD:22226,Active,Orphanet,ORPHA:541478,Group of disorders,[Clinical group],Anomalous aortic origin of coronary artery,[AAOCA],"A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed.",,,,,,,,, +GARD:22227,Active,Orphanet,ORPHA:541507,Disorder,[Morphological anomaly],Anomalous origin of coronary artery from the pulmonary artery,[ACAPA],"A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed.",,,,,,,,, +GARD:22228,Active,Orphanet,ORPHA:542323,Disorder,[Particular clinical situation in a disease or syndrome],CAR T cell therapy-associated cytokine release syndrome,"[CAR T cell therapy-associated CRS, Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome]","A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterized by a systemic inflammatory response due to massive activation of leukocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock, and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnea to acute respiratory distress syndrome (ARDS).",,,,,,,,, +GARD:22229,Active,Orphanet,ORPHA:542568,Disorder,[Morphological anomaly],Quadricuspid aortic valve,,"A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom.",,,,,,,,, +GARD:22230,Active,Orphanet,ORPHA:542822,Group of disorders,[Clinical group],Anomaly of the coronary ostia,,"A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia.",,,,,,,,, +GARD:22231,Active,Orphanet,ORPHA:543470,Disorder,[Disease],Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,,"A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.",,,,,,,,, +GARD:22232,Active,Orphanet,ORPHA:544254,Disorder,[Disease],SYNGAP1-related developmental and epileptic encephalopathy,[SYNGAP1-related DEE],"A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).",,,,,,,,, +GARD:22233,Active,Orphanet,ORPHA:544458,Group of disorders,[Clinical group],Hemolytic uremic syndrome,[HUS],,,,,,,,,, +GARD:22234,Active,Orphanet,ORPHA:544482,Disorder,[Disease],Infection-related hemolytic uremic syndrome,[Infection-related HUS],,,,,,,,,, +GARD:22235,Active,Orphanet,ORPHA:544493,Subtype of disorder,[Clinical subtype],Streptococcus pneumoniae-associated hemolytic uremic syndrome,"[S. pneumoniae-associated HUS, SP-HUS]",,,,,,,,,, +GARD:22236,Active,Orphanet,ORPHA:544578,Subtype of disorder,[Clinical subtype],"Congenital primary megaureter, refluxing and obstructed form",,,,,,,,,,, +GARD:22237,Active,Orphanet,ORPHA:544590,Group of disorders,[Category],Collagen-related glomerular basement membrane disease,,,,,,,,,,, +GARD:22238,Active,Orphanet,ORPHA:544628,Disorder,[Disease],Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,,,,,,,,,,, +GARD:22239,Active,Orphanet,ORPHA:555434,Subtype of disorder,[Clinical subtype],Fibrohistiocytic inflammatory pseudotumor of the liver,,"A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.",,,,,,,,, +GARD:22240,Active,Orphanet,ORPHA:555437,Subtype of disorder,[Clinical subtype],Lymphoplasmacytic inflammatory pseudotumor of the liver,[IgG4-related inflammatory pseudotumor of the liver],"A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.",,,,,,,,, +GARD:22241,Active,Orphanet,ORPHA:555874,Disorder,[Morphological anomaly],Congenital tricuspid valve dysplasia,,"A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur.",,,,,,,,, +GARD:22242,Active,Orphanet,ORPHA:555905,Disorder,[Disease],IgA pemphigus,,"A rare autoimmune bullous skin disease characterized by painful and pruritic vesiculopustular eruptions resulting from circulating IgA antibodies against keratinocyte cell surface components. The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis.",,,,,,,,, +GARD:22243,Active,Orphanet,ORPHA:556030,Subtype of disorder,[Clinical subtype],Early-onset familial hypoaldosteronism,"[Early-onset familial hyperreninemic hypoaldosteronism, Severe aldosterone synthase deficiency]","A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.",,,,,,,,, +GARD:22244,Active,Orphanet,ORPHA:556037,Subtype of disorder,[Clinical subtype],Late-onset familial hypoaldosteronism,"[Late-onset familial hyperreninemic hypoaldosteronism, Mild aldosterone synthase deficiency]","A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.",,,,,,,,, +GARD:22245,Active,Orphanet,ORPHA:556508,Group of disorders,[Category],Rare disorder due to poisoning,,,,,,,,,,, +GARD:22246,Active,Orphanet,ORPHA:556985,Disorder,[Disease],Early-onset calcifying leukoencephalopathy-skeletal dysplasia,,"A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.",,,,,,,,, +GARD:22247,Active,Orphanet,ORPHA:557056,Disorder,[Disease],Spastic ataxia-dysarthria due to glutaminase deficiency,,"A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.",,,,,,,,, +GARD:22248,Active,Orphanet,ORPHA:557866,Group of disorders,[Category],Rare disorder with Hirschsprung disease as a major feature,,,,,,,,,,, +GARD:22249,Active,Orphanet,ORPHA:558411,Disorder,[Disease],Idiopathic gastroparesis,,"A rare idiopathic gastroesophageal disease characterized by delayed gastric emptying in the absence of mechanical obstruction of the gastric outlet. Patients present symptoms including nausea, vomiting, early satiety, postprandial fullness, bloating, abdominal pain and, in more severe cases, dehydration, electrolyte disturbances, weight loss and malnutrition.",,,,,,,,, +GARD:2225,Legacy,GARD,,,,,,,,,,,,Facies unusual arthrogryposis advanced skeletal malformations,TRUE,FALSE,Retired +GARD:22250,Active,Orphanet,ORPHA:562639,Disorder,[Disease],Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,"[Overlap syndromes of autoimmune liver diseases, PBC/PSC and AIH overlap syndrome]","A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical phenotype vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.",,,,,,,,, +GARD:22251,Active,Orphanet,ORPHA:563576,Subtype of disorder,[Clinical subtype],Autoimmune hepatitis type 1,[AIH type 1],"A form of autoimmune hepatitis characterized by clinical presentation as cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, and presence of circulating autoantibodies, specifically antinuclear antibodies (ANA), anti-smooth muscle antibodies (anti-SMA), and/or anti-soluble liver antigen/liver pancreas antigen antibodies (anti-SLA/LP). The disease predominantly develops at a post-pubertal age and most commonly takes a chronic course, although acute or acute severe presentation may also be observed. Typical concurrent autoimmune diseases are autoimmune thyroiditis and rheumatic diseases.",,,,,,,,, +GARD:22252,Active,Orphanet,ORPHA:563581,Subtype of disorder,[Clinical subtype],Autoimmune hepatitis type 2,[AIH type 2],"A form of autoimmune hepatitis characterized by clinical presentation as cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, and presence of circulating autoantibodies, specifically antibodies to liver kidney microsome type 1 (anti-LKM1) and anti-liver cytosol type 1 (anti-LC1) antibodies. The disease typically manifests in childhood or adolescence with an acute onset, often with acute liver failure. Long-term immunosuppression is usually required. Reported concurrent autoimmune diseases are autoimmune thyroiditis, diabetes mellitus, and vitiligo.",,,,,,,,, +GARD:22253,Active,Orphanet,ORPHA:563589,Subtype of disorder,[Clinical subtype],Seronegative autoimmune hepatitis,"[Autoantibody-negative autoimmune hepatitis, Seronegative AIH]","A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.",,,,,,,,, +GARD:22254,Active,Orphanet,ORPHA:563609,Subtype of disorder,[Clinical subtype],Isolated anencephaly,,,,,,,,,,, +GARD:22255,Active,Orphanet,ORPHA:563612,Subtype of disorder,[Clinical subtype],Isolated exencephaly,,,,,,,,,,, +GARD:22256,Active,Orphanet,ORPHA:563666,Subtype of disorder,[Histopathological subtype],Serous cystadenoma of childhood,[Serous cystadenoma of ovary in childhood],,,,,,,,,, +GARD:22257,Active,Orphanet,ORPHA:563671,Subtype of disorder,[Histopathological subtype],Mucinous cystadenoma of childhood,[Mucinous cystadenoma of ovary in childhood],,,,,,,,,, +GARD:22258,Active,Orphanet,ORPHA:563676,Subtype of disorder,[Histopathological subtype],Seromucinous cystadenoma of childhood,[Seromucinous cystadenoma of ovary in childhood],,,,,,,,,, +GARD:22259,Active,Orphanet,ORPHA:563684,Subtype of disorder,[Clinical subtype],Furuncular myiasis due to Dermatobia hominis,"[Furunculoid myiasis due to Dermatobia hominis, Furunculous myiasis due to Dermatobia hominis]",,,,,,,,,, +GARD:2226,Legacy,GARD,,,,,,,,,,,,Facio digito genital syndrome recessive form,TRUE,FALSE,Active +GARD:22260,Active,Orphanet,ORPHA:563687,Subtype of disorder,[Clinical subtype],Furuncular myiasis due to Cordylobia anthropophaga,"[Furunculoid myiasis due to Cordylobia anthropophaga, Furunculous myiasis due to Cordylobia anthropophaga]",,,,,,,,,, +GARD:22261,Active,Orphanet,ORPHA:563690,Subtype of disorder,[Clinical subtype],Furuncular myiasis due to Cordylobia rodhaini,"[Furunculoid myiasis due to Cordylobia rodhaini, Furunculous myiasis due to Cordylobia rodhaini]",,,,,,,,,, +GARD:22262,Active,Orphanet,ORPHA:563708,Disorder,[Disease],Syndromic congenital sodium diarrhea,[Syndromic congenital tufting enteropathy],"A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral chonal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly.",,,,,,,,, +GARD:22263,Active,Orphanet,ORPHA:563951,Subtype of disorder,[Clinical subtype],Isolated congenital aglossia,,,,,,,,,,, +GARD:22264,Active,Orphanet,ORPHA:563954,Subtype of disorder,[Clinical subtype],Isolated congenital hypoglossia,,,,,,,,,,, +GARD:22265,Active,Orphanet,ORPHA:564127,Group of disorders,[Clinical group],Genetic nephrotic syndrome,[Hereditary nephrotic syndrome],,,,,,,,,, +GARD:22266,Active,Orphanet,ORPHA:564178,Disorder,[Disease],Primary hypomagnesemia-refractory seizures-intellectual disability syndrome,,,,,,,,,,, +GARD:22267,Active,Orphanet,ORPHA:565612,Disorder,[Disease],Triglyceride deposit cardiomyovasculopathy,"[Neutral lipid storage disease with severe cardiovascular involvement, TGCV]",,,,,,,,,, +GARD:22268,Active,Orphanet,ORPHA:565641,Disorder,[Disease],Primary desmosis coli,[Aplastic desmosis coli],"A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.",,,,,,,,, +GARD:22269,Active,Orphanet,ORPHA:565782,Disorder,[Disease],Methotrexate toxicity,,"A rare intoxication characterized by acute renal tubular toxicity due to crystallization of methotrexate in the renal tubular lumen (which in turn leads to impaired methotrexate clearance and further deterioration of renal function and exacerbation of non-renal adverse events), myelosuppression with pancytopenia, gastrointestinal mucositis, maculopapular skin rash, chemical conjunctivitis, hepatotoxicity (reversible chemical hepatitis and hyperbilirubinemia), pulmonary toxicity, and, in severe cases, multiorgan failure. Central nervous system involvement, including headaches, seizures, and stroke-like symptoms, may also be observed.",,,,,,,,, +GARD:2227,Legacy,GARD,,,,,,,,,,,,Facio skeletal genital syndrome Rippberger type,TRUE,FALSE,Active +GARD:22270,Active,Orphanet,ORPHA:565837,Disorder,[Disease],Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23,"[LGMD type R23, Laminin subunit alpha 2-related LGMD R23, Laminin subunit alpha 2-related late-onset muscular dystrophy]",,,,,,,,,, +GARD:22271,Active,Orphanet,ORPHA:565899,Disorder,[Disease],POMGNT2-related limb-girdle muscular dystrophy R24,"[LGMD type R24, Limb-girdle muscular dystrophy type R24, POMGNT2-related LGMD R24, POMGNT2-related muscular dystrophy]",,,,,,,,,, +GARD:22272,Active,Orphanet,ORPHA:565909,Disorder,[Disease],Calpain-3-related limb-girdle muscular dystrophy D4,"[LGMD type D4, LGMD1I, Limb-girdle muscular dystrophy type D4]",,,,,,,,,, +GARD:22273,Active,Orphanet,ORPHA:566067,Disorder,[Disease],CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,[CAIN],"A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.",,,,,,,,, +GARD:22274,Active,Orphanet,ORPHA:566192,Disorder,[Disease],Congenital autosomal recessive small-platelet thrombocytopenia,[CARST],"A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.",,,,,,,,, +GARD:22275,Active,Orphanet,ORPHA:566231,Disorder,[Disease],Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,"[RTHa, Resistance to thyroid hormone alpha, Resistance to thyroid hormone due to a mutation in TRa]","A rare primary congenital hypothyroidism characterized by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms.",,,,,,,,, +GARD:22276,Active,Orphanet,ORPHA:566393,Subtype of disorder,[Clinical subtype],Acute mast cell leukemia,[Acute MCL],"A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.",,,,,,,,, +GARD:22277,Active,Orphanet,ORPHA:566396,Subtype of disorder,[Clinical subtype],Chronic mast cell leukemia,[Chronic MCL],"A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.",,,,,,,,, +GARD:22278,Active,Orphanet,ORPHA:566841,Disorder,[Disease],Liver adenomatosis,[Hepatic adenomatosis],"A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.",,,,,,,,, +GARD:22279,Active,Orphanet,ORPHA:566847,Disorder,[Morphological anomaly],Aprosencephaly/atelencephaly spectrum,[AP/AT spectum],"A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies.",,,,,,,,, +GARD:2228,Legacy,GARD,,,,,,,,,,,,Facio thoraco genital syndrome,TRUE,FALSE,Active +GARD:22280,Active,Orphanet,ORPHA:566852,Subtype of disorder,[Clinical subtype],Atelencephaly,[Atelencephalic microcephaly],,,,,,,,,, +GARD:22281,Active,Orphanet,ORPHA:566857,Subtype of disorder,[Clinical subtype],Aprosencephaly,,,,,,,,,,, +GARD:22282,Active,Orphanet,ORPHA:566862,Disorder,[Malformation syndrome],Left sided atrial isomerism,"[Isomerism of left atrial appendage, LAI]",,,,,,,,,, +GARD:22283,Active,Orphanet,ORPHA:566943,Disorder,[Disease],Mueller-Weiss syndrome,"[Brailsford disease, Mueller-Weiss osteonecrosis of the tarsal bone]","A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.",,,,,,,,, +GARD:22284,Active,Orphanet,ORPHA:567502,Disorder,[Disease],B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,"[BILU syndrome, Hoffman syndrome]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.",,,,,,,,, +GARD:22285,Active,Orphanet,ORPHA:567544,Disorder,[Clinical syndrome],Idiopathic non-lupus full-house nephropathy,[Idiopathic non-lupus FHN],,,,,,,,,, +GARD:22286,Active,Orphanet,ORPHA:567546,Disorder,[Clinical syndrome],Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance,"[Idiopathic SSNS with secondary steroid resistance, Secondary SRNS, Secondary steroid-resistant nephrotic syndrome]","A rare, idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids, but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant.",,,,,,,,, +GARD:22287,Active,Orphanet,ORPHA:567550,Subtype of disorder,[Clinical subtype],Idiopathic multidrug-resistant nephrotic syndrome,,,,,,,,,,, +GARD:22288,Active,Orphanet,ORPHA:567552,Subtype of disorder,[Clinical subtype],Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy,[Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression],,,,,,,,,, +GARD:22289,Active,Orphanet,ORPHA:567554,Group of disorders,[Category],Systemic disease with glomerulopathy as a major feature,,,,,,,,,,, +GARD:2229,Active,Orphanet,ORPHA:1972,Disorder,[Malformation syndrome],Lethal faciocardiomelic dysplasia,,An extremely rare polymalformative syndrome.,[227270],,,,,Faciocardiomelic dysplasia lethal,TRUE,FALSE,Active +GARD:22290,Active,Orphanet,ORPHA:567556,Group of disorders,[Category],Genetic systemic disease with glomerulopathy as a major feature,,,,,,,,,,, +GARD:22291,Active,Orphanet,ORPHA:567558,Group of disorders,[Category],Non-genetic systemic disease with glomerulopathy as a major feature,,,,,,,,,,, +GARD:22292,Active,Orphanet,ORPHA:567560,Group of disorders,[Category],Systemic vasculitis associated with glomerulopathy,,,,,,,,,,, +GARD:22293,Active,Orphanet,ORPHA:567562,Group of disorders,[Category],Disorder with multisystemic involvement and glomerulopathy,,,,,,,,,,, +GARD:22294,Active,Orphanet,ORPHA:567564,Group of disorders,[Category],Nephrotic syndrome without extrarenal manifestations,,,,,,,,,,, +GARD:22295,Active,Orphanet,ORPHA:567983,Disorder,[Particular clinical situation in a disease or syndrome],Parenteral nutrition-associated cholestasis,[PNAC],"A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.",,,,,,,,, +GARD:22296,Active,Orphanet,ORPHA:568041,Group of disorders,[Category],Primary lymphedema without systemic or visceral involvement,,,,,,,,,,, +GARD:22297,Active,Orphanet,ORPHA:568044,Group of disorders,[Category],Primary lymphedema with systemic or visceral involvement,,,,,,,,,,, +GARD:22298,Active,Orphanet,ORPHA:568047,Group of disorders,[Category],Disorder with multisystemic involvement and primary lymphedema,,,,,,,,,,, +GARD:22299,Active,Orphanet,ORPHA:568051,Disorder,[Disease],GJC2-related late-onset primary lymphedema,,"A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.",,,,,,,,, +GARD:223,Active,Orphanet,ORPHA:252175,Subtype of disorder,[Clinical subtype],Vestibular schwannoma,"[Acoustic neurilemoma, Acoustic neurinoma, Acoustic neuroma]","Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.",,,,,,Acoustic neuroma,TRUE,FALSE,Active +GARD:2230,Active,Orphanet,ORPHA:1973,Disorder,[Malformation syndrome],Faciocardiorenal syndrome,[Eastman-Bixler syndrome],"A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.",[227280],,,,,Faciocardiorenal syndrome,TRUE,FALSE,Active +GARD:22300,Active,Orphanet,ORPHA:568056,Disorder,[Disease],Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome,"[Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome, WILD syndrome]","A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.",,,,,,,,, +GARD:22301,Active,Orphanet,ORPHA:568062,Disorder,[Disease],PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,"[Generalized lymphatic dysplasia of Fotiou, PIEZO1-related LRHF/GLD, PIEZO1-related generalized lymphatic dysplasia with systemic involvement, PIEZO1-related lymphatic-related hydrops fetalis]","A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.",,,,,,,,, +GARD:22302,Active,Orphanet,ORPHA:568065,Disorder,[Disease],EPHB4-related lymphatic-related hydrops fetalis,"[EPHB4-related LRHF/GLD, EPHB4-related generalized lymphatic dysplasia with atrial septal defect, EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis]","A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.",,,,,,,,, +GARD:22303,Active,Orphanet,ORPHA:569164,Disorder,[Disease],Angiomatoid fibrous histiocytoma,[AFH],"A rare soft tissue tumor characterized by a slow-growing, usually painless, subcutaneous nodule, predominantly located in the extremities, less frequently the trunk or head and neck region. Histopathologically, the lesion is well-circumscribed, lobulated, and composed of epitheloid, ovoid, or spindle cells arranged in a nodular and often syncytial pattern, with pseudoangiomatoid spaces and a peripheral fibrous pseudocapsule with a prominent lymphoplasmacytic cuff. The tumor is most common in the first two decades of life and usually follows an indolent course, although local recurrence may occur, while metastasis is rare.",,,,,,,,, +GARD:22304,Active,Orphanet,ORPHA:569248,Disorder,[Disease],Microcystic stromal tumor,[MCST],"A rare benign ovarian stromal tumor characterized by a stromal neoplasm with variable microcystic morphology, low mitotic activity, and diffuse nuclear beta-catenin and cyclin D1 immunoreactivity, while inhibin and calretinin are not expressed. Patients most commonly present with symptoms of a unilateral pelvic mass. Hormonal manifestations are usually absent. The tumor may be associated with familial adenomatous polyposis.",,,,,,,,, +GARD:22305,Active,Orphanet,ORPHA:569274,Disorder,[Disease],Multiple mitochondrial dysfunctions syndrome type 5,"[ISCA1 deficiency, MMDS5]",,,,,,,,,, +GARD:22306,Active,Orphanet,ORPHA:569816,Disorder,[Disease],CELSR1-related late-onset primary lymphedema,,"A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.",,,,,,,,, +GARD:22307,Active,Orphanet,ORPHA:569821,Disorder,[Disease],Congenital primary lymphedema of Gordon,[VEGFC-related congenital primary lymphedema],"A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.",,,,,,,,, +GARD:22308,Active,Orphanet,ORPHA:570371,Subtype of disorder,[Clinical subtype],Bartter syndrome type 5,"[Bartter syndrome type V, Transient antenatal Bartter syndrome]","A form of antenatal Bartter syndrome characterized by early maternal polyhydramnios, excessive renal salt loss with secondary metabolic alkalosis in the neonatal period that completely disappears within the first months of life.",,,,,,,,, +GARD:22309,Active,Orphanet,ORPHA:570431,Subtype of disorder,[Clinical subtype],Idiopathic multicentric Castleman disease,"[HHV-8-negative multicentric Castleman disease, Human herpesvirus-8-negative multicentric Castleman disease]",,,,,,,,,, +GARD:22310,Active,Orphanet,ORPHA:570438,Subtype of disorder,[Clinical subtype],HHV-8-associated multicentric Castleman disease,[Human herpesvirus-8-associated multicentric Castleman disease],,,,,,,,,, +GARD:22311,Active,Orphanet,ORPHA:570470,Disorder,[Disease],Ricin poisoning,,"A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of Ricinus communis, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.",,,,,,,,, +GARD:22312,Active,Orphanet,ORPHA:572333,Disorder,[Malformation syndrome],Blepharophimosis-ptosis-epicanthus inversus syndrome plus,"[3q23 microdeletion syndrome, BPES plus]",,,,,,,,,, +GARD:22313,Active,Orphanet,ORPHA:572428,Disorder,[Disease],Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,"[OAS1 deficiency, OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia]","A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.",,,,,,,,, +GARD:22314,Active,Orphanet,ORPHA:572761,Disorder,[Malformation syndrome],DONSON-related microcephaly-short stature-limb abnormalities spectrum,,A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.,,,,,,,,, +GARD:22315,Active,Orphanet,ORPHA:573163,Group of disorders,[Clinical group],Pheochromocytoma-paraganglioma,,A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.,,,,,,,,, +GARD:22316,Active,Orphanet,ORPHA:573253,Subtype of disorder,[Clinical subtype],Split cord malformation type II,"[SCM type 2, SCM type II, Split cord malformation type 2]",,,,,,,,,, +GARD:22317,Active,Orphanet,ORPHA:573278,Disorder,[Morphological anomaly],Split cord malformation,[SCM],,,,,,,,,, +GARD:22318,Active,Orphanet,ORPHA:574918,Disorder,[Disease],Predisposition to severe viral infection due to IRF7 deficiency,,,,,,,,,,, +GARD:22319,Active,Orphanet,ORPHA:574957,Disorder,[Disease],Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency,[Autosomal recessive MSMD due to partial JAK1 deficiency],,,,,,,,,, +GARD:22320,Active,Orphanet,ORPHA:575553,Disorder,[Disease],Cathepsin A-related arteriopathy-strokes-leukoencephalopathy,[CARASAL],"A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.",,,,,,,,, +GARD:22321,Active,Orphanet,ORPHA:576074,Disorder,[Disease],Middle East respiratory syndrome,[MERS],,,,,,,,,, +GARD:22322,Active,Orphanet,ORPHA:576227,Subtype of disorder,[Clinical subtype],Complete atrioventricular septal defect without ventricular hypoplasia,"[Balanced complete atrioventricular canal, CAVC without ventricular hypoplasia, Complete AVSD without ventricular hypoplasia, Complete atrioventricular canal defect without ventricular hypoplasia, Complete atrioventricular septal defect with balanced ventricles]",,,,,,,,,, +GARD:22323,Active,Orphanet,ORPHA:576232,Subtype of disorder,[Clinical subtype],Partial atrioventricular septal defect with ventricular hypoplasia,"[PAVC with ventricular hypoplasia, Partial AVSD with ventricular hypoplasia, Partial atrioventricular canal defect with ventricular hypoplasia, Partial atrioventricular septal defect with ventricular imbalance, Unbalanced partial atrioventricular canal]",,,,,,,,,, +GARD:22324,Active,Orphanet,ORPHA:576235,Subtype of disorder,[Clinical subtype],Partial atrioventricular septal defect without ventricular hypoplasia,"[Balanced partial atrioventricular canal, PAVC without ventricular hypoplasia, Partial AVSD without ventricular hypoplasia, Partial atrioventricular canal defect without ventricular hypoplasia, Partial atrioventricular septal defect with balanced ventricles]",,,,,,,,,, +GARD:22325,Active,Orphanet,ORPHA:576242,Disorder,[Morphological anomaly],Intermediate atrioventricular septal defect,"[Intermediate AVSD, Intermediate atrioventricular canal defect, Transitional atrioventricular canal defect]",,,,,,,,,, +GARD:22326,Active,Orphanet,ORPHA:576278,Disorder,[Malformation syndrome],SATB2-associated syndrome,[SAS],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging.",,,,,,,,, +GARD:22327,Active,Orphanet,ORPHA:576356,Group of disorders,[Category],Sporadic human prion disease,[Idiopathic human prion disease],,,,,,,,,, +GARD:22328,Active,Orphanet,ORPHA:576360,Group of disorders,[Category],Acquired human prion disease,[Infectious human prion disease],,,,,,,,,, +GARD:22329,Active,Orphanet,ORPHA:576379,Disorder,[Disease],Iatrogenic Creutzfeldt-Jakob disease,"[Iatrogenic MCJ, iCJD]","A rare acquired human prion disease characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of CJD prions in the course of medical procedures or treatments (treatment with human pituitary growth hormone or gonadotrophin, human dura mater or corneal graft, exposure to contaminated neurosurgical instruments). Patients present rapidly progressive cognitive impairment, as well as myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, and/or akinetic mutism. EEG examination may show characteristic generalized periodic sharp wave complexes. Neuropathologic analysis reveals spongiform change, neuronal loss and gliosis, and deposition of abnormal prion protein.",,,,,,,,, +GARD:22330,Active,Orphanet,ORPHA:576742,Group of disorders,[Category],Genetic hemolytic uremic syndrome,[Genetic HUS],,,,,,,,,, +GARD:22331,Active,Orphanet,ORPHA:580572,Disorder,[Disease],Intraductal tubulopapillary neoplasm of pancreas,[ITPN],"A rare epithelial tumor of pancreas characterized by a solid, nodular mass growing within dilated pancreatic ducts, histologically composed of nodules of back-to-back tubular glands forming large cribriform structures, with high-grade dysplasia and ductal differentiation. There is no overt production of mucin. About half of the tumors occur in the head of the pancreas, one third involve the gland diffusely. Patients present with nonspecific symptoms including abdominal pain, vomiting, weight loss, steatorrhea, and diabetes mellitus, while obstructive jaundice is uncommon. This tumor type accounts for less than 1% of exocrine neoplasms and 3% of intraductal neoplasms of the pancreas.",,,,,,,,, +GARD:22332,Active,Orphanet,ORPHA:580933,Disorder,[Malformation syndrome],Lethal brain and heart developmental defects,,"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss.",,,,,,,,, +GARD:22333,Active,Orphanet,ORPHA:583097,Disorder,[Disease],Congenital infiltrating lipomatosis of the face,"[CIL-F, Facial infused lipomatosis, Fibroadipose infiltrating lipomatosis]",,,,,,,,,, +GARD:22334,Active,Orphanet,ORPHA:583595,Disorder,[Disease],"Serine biosynthesis pathway deficiency, infantile/juvenile form",,,,,,,,,,, +GARD:22335,Active,Orphanet,ORPHA:583602,Subtype of disorder,[Etiological subtype],Neu-laxova syndrome due to phosphoserine aminotransferase deficiency,"[Phosphoserine aminotransferase deficiency, prenatal form]",,,,,,,,,, +GARD:22336,Active,Orphanet,ORPHA:583607,Subtype of disorder,[Etiological subtype],Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency,"[3-phosphoglycerate dehydrogenase deficiency, prenatal form]",,,,,,,,,, +GARD:22337,Active,Orphanet,ORPHA:583612,Subtype of disorder,[Etiological subtype],Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency,"[3-phosphoserine phosphatase deficiency, prenatal form]",,,,,,,,,, +GARD:22338,Active,Orphanet,ORPHA:583856,Disorder,[Disease],Isolated splenic vein thrombosis,,,,,,,,,,, +GARD:22339,Active,Orphanet,ORPHA:583861,Disorder,[Disease],Isolated mesenteric vein thrombosis,,,,,,,,,,, +GARD:22340,Active,Orphanet,ORPHA:585867,Disorder,[Disease],Acute myeloid leukemia with t(9;22)(q34.1;q11.2),"[AML with BCR-ABL1, AML with t(9;22)(q34.1;q11.2)]","A rare acute myeloid leukemia (AML) with recurrent genetic anomaly characterized by the presence of bone marrow and peripheral blood myeloblasts with features ranging from those of minimal differentiation to granulocytic maturation, demonstrating t(9;22)(q34.1;q11.2) or molecular genetic evidence of BCR-ABL1 fusion. Evidence of chronic myeloid leukemia (CML) is absent. Patients most commonly present with leukocytosis with blast predominance and variable anemia and thrombocytopenia. Splenomegaly is less frequent and peripheral blood basophilia lower than in patients with myeloid blast transformation of CML. The disease occurs primarily in adults, and response to traditional AML therapy or tyrosine kinase inhibitor therapy alone is typically poor.",,,,,,,,, +GARD:22341,Active,Orphanet,ORPHA:585877,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,,,,,,,,,,, +GARD:22342,Active,Orphanet,ORPHA:585909,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),"[B-ALL with t(9;22)(q34.1;q11.2), BCR-ABL1-like B-ALL, Philadelphia chromosome-like B-ALL]",,,,,,,,,, +GARD:22343,Active,Orphanet,ORPHA:585918,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(v;11q23.3),"[B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged, B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged]",,,,,,,,,, +GARD:22344,Active,Orphanet,ORPHA:585929,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),"[B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1, B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1]",,,,,,,,,, +GARD:22345,Active,Orphanet,ORPHA:585936,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with hyperdiploidy,,,,,,,,,,, +GARD:22346,Active,Orphanet,ORPHA:585942,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with hypodiploidy,[Hypodiploid ALL],,,,,,,,,, +GARD:22347,Active,Orphanet,ORPHA:585948,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3),[B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH],,,,,,,,,, +GARD:22348,Active,Orphanet,ORPHA:585956,Subtype of disorder,[Etiological subtype],B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),[B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1],,,,,,,,,, +GARD:22349,Active,Orphanet,ORPHA:586130,Disorder,[Disease],Sporadic fatal insomnia,,"A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.",,,,,,,,, +GARD:2235,Legacy,GARD,,,,,,,,,,,,Factor 2 deficiency,TRUE,FALSE,Retired +GARD:22350,Active,Orphanet,ORPHA:589442,Disorder,[Malformation syndrome],Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome,[Liberfarb syndrome],,,,,,,,,, +GARD:22351,Active,Orphanet,ORPHA:589515,Disorder,[Disease],PUM1-associated developmental disability-ataxia-seizure syndrome,"[PADDAS syndrome, SCA47]",,,,,,,,,, +GARD:22352,Active,Orphanet,ORPHA:589522,Disorder,[Disease],Spinocerebellar ataxia type 46,[SCA46],,,,,,,,,, +GARD:22353,Active,Orphanet,ORPHA:589527,Disorder,[Disease],Spinocerebellar ataxia type 45,[SCA45],,,,,,,,,, +GARD:22354,Active,Orphanet,ORPHA:589534,Subtype of disorder,[Etiological subtype],Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),[MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1],,,,,,,,,, +GARD:22355,Active,Orphanet,ORPHA:589542,Disorder,[Disease],Myeloid/lymphoid neoplasm associated with JAK2 rearrangement,[Myeloid/lymphoid neoplasms with PCM1-JAK2],,,,,,,,,, +GARD:22356,Active,Orphanet,ORPHA:589547,Disorder,[Disease],"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",,,,,,,,,,, +GARD:22357,Active,Orphanet,ORPHA:589595,Subtype of disorder,[Etiological subtype],Mixed phenotype acute leukemia with t(v;11q23.3),"[MPAL with t(v;11q23.3); KMT2A rearranged, MPAL with t(v;11q23.3); MLL rearranged]",,,,,,,,,, +GARD:22358,Active,Orphanet,ORPHA:589608,Disorder,[Disease],"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",[RHOA-related mosaic ectodermal dysplasia],"A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation.",,,,,,,,, +GARD:22359,Active,Orphanet,ORPHA:589618,Disorder,[Disease],Dystonia 28,"[DYT28, KMT2B-related dystonia]",,,,,,,,,, +GARD:22360,Active,Orphanet,ORPHA:589746,Group of disorders,[Category],Inherited gynecological cancer-predisposing syndrome,,,,,,,,,,, +GARD:22361,Active,Orphanet,ORPHA:589821,Subtype of disorder,[Clinical subtype],Congenital-onset Steinert myotonic dystrophy,"[Congenital-onset Steinert disease, Congenital-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22362,Active,Orphanet,ORPHA:589824,Subtype of disorder,[Clinical subtype],Childhood-onset Steinert myotonic dystrophy,"[Childhood-onset Steinert disease, Childhood-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22363,Active,Orphanet,ORPHA:589827,Subtype of disorder,[Clinical subtype],Juvenile-onset Steinert myotonic dystrophy,"[Juvenile-onset Steinert disease, Juvenile-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22364,Active,Orphanet,ORPHA:589830,Subtype of disorder,[Clinical subtype],Adult-onset Steinert myotonic dystrophy,"[Adult-onset Steinert disease, Adult-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22365,Active,Orphanet,ORPHA:589833,Subtype of disorder,[Clinical subtype],Late-onset Steinert myotonic dystrophy,"[Late-onset Steinert disease, Late-onset myotonic dystrophy type 1]",,,,,,,,,, +GARD:22366,Active,Orphanet,ORPHA:589856,Disorder,[Malformation syndrome],Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,[KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome],,,,,,,,,, +GARD:22367,Active,Orphanet,ORPHA:589905,Disorder,[Disease],PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,[Chung-Jansen syndrome],"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities.",,,,,,,,, +GARD:22368,Active,Orphanet,ORPHA:590539,Disorder,[Disease],Isolated melanotic schwannoma,[Isolated melanocytic schwannoma],A rare nervous system tumor characterized by cells phenotypically representing Schwann cells but containing melanosomes and expressing melanoma markers. The entity occurs as a non-psammomatous (typically affecting spinal nerves) or a psammomatous (also involving nerves of the intestinal tract and heart) variant. About 50% of psammomatous tumors are associated with Carney complex. Slightly over 10% of melanotic schwannomas follow a malignant course.,,,,,,,,, +GARD:22369,Active,Orphanet,ORPHA:592564,Disorder,[Disease],GNAO1-related developmental delay-seizures-movement disorder spectrum,[GNAO1-related spectrum],,,,,,,,,, +GARD:2237,Active,Orphanet,ORPHA:326,Disorder,[Disease],Congenital factor V deficiency,"[Owren disease, Parahemophilia, Proaccelerin deficiency]",Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.,[227400],,,,,Factor V deficiency,TRUE,FALSE,Active +GARD:22370,Active,Orphanet,ORPHA:592570,Disorder,[Malformation syndrome],TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.",,,,,,,,, +GARD:22371,Active,Orphanet,ORPHA:592574,Disorder,[Malformation syndrome],Menke-Hennekam syndrome,,,,,,,,,,, +GARD:22372,Active,Orphanet,ORPHA:592850,Subtype of disorder,[Clinical subtype],Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies,"[NMOSD with anti-AQP4 antibodies, Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies]",,,,,,,,,, +GARD:22373,Active,Orphanet,ORPHA:592856,Subtype of disorder,[Clinical subtype],Neuromyelitis optica spectrum disorder with anti-MOG antibodies,"[NMOSD with anti-MOG antibodies, Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies]",,,,,,,,,, +GARD:22374,Active,Orphanet,ORPHA:592869,Subtype of disorder,[Clinical subtype],Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies,"[NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies, Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies]",,,,,,,,,, +GARD:22375,Active,Orphanet,ORPHA:592873,Subtype of disorder,[Clinical subtype],Acute transverse myelitis with anti-MOG antibodies,[Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies],,,,,,,,,, +GARD:22376,Active,Orphanet,ORPHA:592885,Subtype of disorder,[Clinical subtype],Isolated optic neuritis without anti-MOG antibodies,[Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies],,,,,,,,,, +GARD:22377,Active,Orphanet,ORPHA:592888,Subtype of disorder,[Clinical subtype],Isolated optic neuritis with anti-MOG antibodies,[Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies],,,,,,,,,, +GARD:22378,Active,Orphanet,ORPHA:592894,Subtype of disorder,[Clinical subtype],Acute disseminated encephalomyelitis with anti-MOG antibodies,"[ADEM with anti-MOG antibodies, Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies]",,,,,,,,,, +GARD:22379,Active,Orphanet,ORPHA:592900,Subtype of disorder,[Clinical subtype],Acute disseminated encephalomyelitis without anti-MOG antibodies,[Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies],,,,,,,,,, +GARD:2238,Active,Orphanet,ORPHA:327,Disorder,[Disease],Congenital factor VII deficiency,"[Congenital proconvertin deficiency, Hypoproconvertinemia]","A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.",[227500],,,,,Factor VII deficiency,TRUE,FALSE,Active +GARD:22380,Active,Orphanet,ORPHA:595098,Subtype of disorder,[Clinical subtype],Timothy syndrome type 1,"[LQT8 type 1, TS1]",,,,,,,,,, +GARD:22381,Active,Orphanet,ORPHA:595105,Subtype of disorder,[Clinical subtype],Timothy syndrome type 2,"[LQT8 type 2, TS2]",,,,,,,,,, +GARD:22382,Active,Orphanet,ORPHA:595109,Subtype of disorder,[Clinical subtype],Atypical Timothy syndrome,"[ATS, Atypical LQT8]",,,,,,,,,, +GARD:22383,Active,Orphanet,ORPHA:595133,Disorder,[Disease],Perivascular epithelioid cell neoplasm,"[PEComa, Perivascular epithelioid tumour]","A rare soft tissue tumor characterized by distinctive perivascular epitheloid cells, often arranged radially around a vascular lumen, as well as spindled cells in variable proportion. Melanocytic and muscle markers are typically positive. The tumors have been reported in the uterus, falciform ligament, and large and small intestine, among others. Depending on their location, they may present as a painful or painless mass, or with vaginal bleeding. Tumors displaying infiltrative growth, marked hypercellularity, nuclear enlargement and hyperchromasia, high mitotic activity, atypical mitotic figures, and/or coagulative necrosis should be regarded as malignant.",,,,,,,,, +GARD:22384,Active,Orphanet,ORPHA:595216,Group of disorders,[Clinical group],Fibrous dysplasia/McCune-Albright syndrome,"[FD/MAS spectrum, FD/MAS syndrome, Fibrous dysplasia/McCune-Albright spectrum]",,,,,,,,,, +GARD:22385,Active,Orphanet,ORPHA:595337,Group of disorders,[Clinical group],Adrenal hypoplasia congenita,"[AHC, Congenital adrenal hypoplasia, Primary adrenal hypoplasia]",,,,,,,,,, +GARD:22386,Active,Orphanet,ORPHA:595346,Group of disorders,[Category],Epidermolysis bullosa simplex without extracutaneous involvement,[EBS without extracutaneous involvement],,,,,,,,,, +GARD:22387,Active,Orphanet,ORPHA:595351,Group of disorders,[Category],Epidermolysis bullosa simplex with extracutaneous involvement,[EBS with extracutaneous involvement],,,,,,,,,, +GARD:22388,Active,Orphanet,ORPHA:595356,Disorder,[Disease],Localized dystrophic epidermolysis bullosa,[Localized DEB],A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form).,,,,,,,,, +GARD:22389,Active,Orphanet,ORPHA:596008,Subtype of disorder,[Clinical subtype],Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis,,,,,,,,,,, +GARD:22390,Active,Orphanet,ORPHA:596426,Group of disorders,[Clinical group],Syndrome of reduced sensitivity to thyroid hormone,,,,,,,,,,, +GARD:22391,Active,Orphanet,ORPHA:596448,Disorder,[Disease],IgG4-related systemic disease,"[IgG4-RD, IgG4-related disease]",,,,,,,,,, +GARD:22392,Active,Orphanet,ORPHA:596759,Disorder,[Disease],Combined immunodeficiency due to RELA haploinsufficiency,[CID due to RELA haploinsufficiency],,,,,,,,,, +GARD:22393,Active,Orphanet,ORPHA:596937,Disorder,[Disease],Portosinusoidal vascular disease,[PSVD],,,,,,,,,, +GARD:22394,Active,Orphanet,ORPHA:596941,Subtype of disorder,[Histopathological subtype],Incomplete septal cirrhosis,[Incomplete septal fibrosis],"A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.",,,,,,,,, +GARD:22395,Active,Orphanet,ORPHA:597201,Disorder,[Disease],TRIM22-related inflammatory bowel disease,[TRIM22-related IBD],,,,,,,,,, +GARD:22396,Active,Orphanet,ORPHA:597623,Disorder,[Disease],IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome,,,,,,,,,,, +GARD:22397,Active,Orphanet,ORPHA:597743,Disorder,[Malformation syndrome],SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome,,,,,,,,,,, +GARD:22398,Active,Orphanet,ORPHA:597746,Disorder,[Malformation syndrome],Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome,,,,,,,,,,, +GARD:22399,Active,Orphanet,ORPHA:597749,Group of disorders,[Clinical group],KAT6B-related multiple congenital anomalies syndrome,[KAT6B-related disorder],,,,,,,,,, +GARD:224,Active,Orphanet,ORPHA:3015,Disorder,[Malformation syndrome],Radio-renal syndrome,,"Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.",[179280],,,,,Radio renal syndrome,TRUE,FALSE,Active +GARD:22400,Active,Orphanet,ORPHA:597887,Disorder,[Disease],ALPI-related inflammatory bowel disease,,,,,,,,,,, +GARD:22401,Active,Orphanet,ORPHA:597939,Disorder,[Disease],Euthyroid dysprealbuminemic hyperthyroxinemia,[Euthyroid dystransthyretinemic hyperthyroxinemia],,,,,,,,,, +GARD:22402,Active,Orphanet,ORPHA:598164,Subtype of disorder,[Clinical subtype],FOXG1 syndrome due to intragenic alteration,,,,,,,,,,, +GARD:22403,Active,Orphanet,ORPHA:598363,Disorder,[Disease],Multisystem inflammatory syndrome in children and adults,[MIS-C/A],,,,,,,,,, +GARD:22404,Active,Orphanet,ORPHA:599373,Disorder,[Disease],STXBP1-related encephalopathy,,"A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.",,,,,,,,, +GARD:22405,Active,Orphanet,ORPHA:599376,Disorder,[Disease],Hypomyelination of early myelinating structures,[HEMS],,,,,,,,,, +GARD:22406,Active,Orphanet,ORPHA:599418,Subtype of disorder,[Clinical subtype],Hereditary angioedema with normal C1Inh not related to F12 or PLG variant,,,,,,,,,,, +GARD:22407,Active,Orphanet,ORPHA:599485,Disorder,[Disease],Acquired hemophilia B,"[AHB, Acquired F9 deficiency, Acquired factor IX deficiency]",,,,,,,,,, +GARD:22408,Active,Orphanet,ORPHA:599490,Disorder,[Disease],Acquired factor V deficiency,,,,,,,,,,, +GARD:22409,Active,Orphanet,ORPHA:599495,Disorder,[Disease],Acquired factor VII deficiency,,,,,,,,,,, +GARD:2241,Legacy,GARD,,,,,,,,,,,,"Factor XI deficiency, congenital",TRUE,FALSE,Retired +GARD:22410,Active,Orphanet,ORPHA:599501,Disorder,[Disease],Acquired factor X deficiency,[aFX],,,,,,,,,, +GARD:22411,Active,Orphanet,ORPHA:599507,Disorder,[Disease],Acquired factor XI deficiency,[aFXI],,,,,,,,,, +GARD:22412,Active,Orphanet,ORPHA:599513,Disorder,[Disease],Acquired factor XIII deficiency,[aFXIII],,,,,,,,,, +GARD:22413,Active,Orphanet,ORPHA:599519,Disorder,[Disease],Factor V short isoforms-related bleeding disorder,[FV short isoforms-related bleeding disorder],,,,,,,,,, +GARD:22414,Active,Orphanet,ORPHA:599579,Subtype of disorder,[Etiological subtype],Factor V Amsterdam bleeding disorder,,,,,,,,,,, +GARD:22415,Active,Orphanet,ORPHA:600194,Subtype of disorder,[Etiological subtype],Factor V Atlanta bleeding disorder,,,,,,,,,,, +GARD:22416,Active,Orphanet,ORPHA:600663,Disorder,[Malformation syndrome],NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,,"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.",,,,,,,,, +GARD:22417,Active,Orphanet,ORPHA:600668,Disorder,[Disease],CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome,,,,,,,,,,, +GARD:22418,Active,Orphanet,ORPHA:600691,Disorder,[Disease],Combined deficiency of factor VII and factor X,,,,,,,,,,, +GARD:22419,Active,Orphanet,ORPHA:600832,Group of disorders,[Clinical group],Legionellosis,[Legionella infection],,,,,,,,,, +GARD:22420,Active,Orphanet,ORPHA:600952,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with perineal fistula,"[Non-syndromic ARM with cutaneous fistula, Non-syndromic ARM with perineal fistula, Non-syndromic anorectal malformation with cutaneous fistula]",,,,,,,,,, +GARD:22421,Active,Orphanet,ORPHA:600961,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectourethral fistula,[Non-syndromic ARM with rectourethral fistula],,,,,,,,,, +GARD:22422,Active,Orphanet,ORPHA:600966,Subtype of disorder,[Clinical subtype],"Non-syndromic anorectal malformation with rectourethral fistula, bulbar type","[Non-syndromic ARM with rectobulbar fistula, Non-syndromic ARM with rectourethral fistula, bulbar type, Non-syndromic anorectal malformation with rectobulbar fistula]",,,,,,,,,, +GARD:22423,Active,Orphanet,ORPHA:600975,Subtype of disorder,[Clinical subtype],"Non-syndromic anorectal malformation with rectourethral fistula, prostatic type","[Non-syndromic ARM with rectoprostatic fistula, Non-syndromic ARM with rectourethral fistula, prostatic type, Non-syndromic anorectal malformation with rectoprostatic fistula]",,,,,,,,,, +GARD:22424,Active,Orphanet,ORPHA:600984,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectovesical fistula,"[Non-syndromic ARM with bladder neck fistula, Non-syndromic ARM with rectovesical fistula, Non-syndromic anorectal malformation with bladder neck fistula]",,,,,,,,,, +GARD:22425,Active,Orphanet,ORPHA:600993,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with vestibular fistula,[Non-syndromic ARM with vestibular fistula],,,,,,,,,, +GARD:22426,Active,Orphanet,ORPHA:600998,Disorder,[Morphological anomaly],Non-syndromic cloacal malformation,,,,,,,,,,, +GARD:22427,Active,Orphanet,ORPHA:601002,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation without fistula,"[Non-syndromic ARM without fistula, Non-syndromic anorectal malformation with no fistula]",,,,,,,,,, +GARD:22428,Active,Orphanet,ORPHA:601008,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with anal stenosis,[Non-syndromic ARM with anal stenosis],,,,,,,,,, +GARD:22429,Active,Orphanet,ORPHA:601013,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with pouch colon,[Non-syndromic ARM with pouch colon],,,,,,,,,, +GARD:22430,Active,Orphanet,ORPHA:601018,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectal atresia,[Non-syndromic ARM with rectal atresia],,,,,,,,,, +GARD:22431,Active,Orphanet,ORPHA:601023,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectal stenosis,[Non-syndromic ARM with rectal stenosis],,,,,,,,,, +GARD:22432,Active,Orphanet,ORPHA:601028,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with rectovaginal fistula,[Non-syndromic ARM with rectovaginal fistula],,,,,,,,,, +GARD:22433,Active,Orphanet,ORPHA:601033,Disorder,[Morphological anomaly],Non-syndromic anorectal malformation with H-type fistula,[Non-syndromic ARM with H-type fistula],,,,,,,,,, +GARD:22434,Active,Orphanet,ORPHA:603515,Disorder,[Morphological anomaly],Isolated female hypospadias,,,,,,,,,,, +GARD:22435,Active,Orphanet,ORPHA:603684,Disorder,[Malformation syndrome],KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome,[PERCHING syndrome],,,,,,,,,, +GARD:22436,Active,Orphanet,ORPHA:603689,Disorder,[Malformation syndrome],KLHL7-related Bohring-Opitz-like syndrome,[KLHL7-related BOS-like syndrome],,,,,,,,,, +GARD:22437,Active,Orphanet,ORPHA:603694,Disorder,[Disease],KLHL7-related cold-induced sweating-like syndrome,[KLHL7-related Crisponi-like syndrome],,,,,,,,,, +GARD:22438,Active,Orphanet,ORPHA:603699,Group of disorders,[Clinical group],KLHL7-related disorder,,,,,,,,,,, +GARD:22439,Active,Orphanet,ORPHA:604680,Disorder,[Disease],Symptomatic form of X-linked centronuclear myopathy in female carriers,"[Symptomatic form of X-linked myotubular myopathy in female carriers, Symptomatic form of XLCNM in female carriers, Symptomatic form of XLMTM in female carriers]",,,,,,,,,, +GARD:22440,Active,Orphanet,ORPHA:611314,Group of disorders,[Category],Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome,,,,,,,,,,, +GARD:22441,Active,Orphanet,ORPHA:611327,Group of disorders,[Category],Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability,[Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism],,,,,,,,,, +GARD:22442,Active,Orphanet,ORPHA:615943,Disorder,[Disease],Granuloma faciale,"[Facial granuloma of Lever, Granuloma of Lever]",,,,,,,,,, +GARD:22443,Active,Orphanet,ORPHA:615970,Disorder,[Disease],Chronic intervillositis of unknown etiology,[CIUE],,,,,,,,,, +GARD:22444,Active,Orphanet,ORPHA:616874,Disorder,[Disease],Rare disorder without a determined diagnosis after full investigation,[Fully investigated rare disorder without a determined diagnosis],"A rare disorder for which all reasonable efforts have been done by rare diseases experts to determine a diagnosis according to the state of the art and available diagnostic capabilities, but did not enable to conclude on a clinically known concept. It is recommended to restrict the use of this entity for coding purposes to rare disease experts.",,,,,,,,, +GARD:22445,Active,Orphanet,ORPHA:617294,Disorder,[Disease],Twin anemia-polycythemia sequence,[TAPS],,,,,,,,,, +GARD:22446,Active,Orphanet,ORPHA:617297,Disorder,[Disease],Twin-reversed arterial perfusion sequence,[TRAP],,,,,,,,,, +GARD:22447,Active,Orphanet,ORPHA:617301,Disorder,[Disease],Selective intrauterine growth restriction,,,,,,,,,,, +GARD:22448,Active,Orphanet,ORPHA:617304,Disorder,[Disease],Amniotic fluid embolism,,,,,,,,,,, +GARD:22449,Active,Orphanet,ORPHA:617307,Group of disorders,[Category],Rare disorder related to monochorionic twin pregnancy,,,,,,,,,,, +GARD:2245,Active,Orphanet,ORPHA:3303,Disorder,[Malformation syndrome],Tetralogy of Fallot,,"Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.","[187500, 618780]",,,,,Tetralogy of Fallot,TRUE,FALSE,Active +GARD:22450,Active,Orphanet,ORPHA:617310,Group of disorders,[Category],Rare disorder due to unbalanced inter-twin blood transfusion,,,,,,,,,,, +GARD:22451,Active,Orphanet,ORPHA:617313,Group of disorders,[Category],Rare disorder due to inadequate sharing of the placenta,,,,,,,,,,, +GARD:22452,Active,Orphanet,ORPHA:617408,Disorder,[Disease],Classic eosinophilic pustular folliculitis,"[Classic EPF, Ofuji disease]",,,,,,,,,, +GARD:22453,Active,Orphanet,ORPHA:617449,Disorder,[Disease],Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome,,,,,,,,,,, +GARD:22454,Active,Orphanet,ORPHA:617919,Disorder,[Disease],F12-associated cold autoinflammatory syndrome,,,,,,,,,,, +GARD:22455,Active,Orphanet,ORPHA:617930,Subtype of disorder,[Clinical subtype],Hemophilia B Leyden,"[F9 deficiency, Leyden type, Factor IX deficiency, Leyden type]",,,,,,,,,, +GARD:22456,Active,Orphanet,ORPHA:618891,Disorder,[Disease],Chronic neurovisceral acid sphingomyelinase deficiency,"[Chronic neurovisceral ASMD, NPD-A/B, Niemann-Pick disease type A/B]",,,,,,,,,, +GARD:22457,Active,Orphanet,ORPHA:618899,Group of disorders,[Clinical group],Acid sphingomyelinase deficiency,[ASMD],,,,,,,,,, +GARD:22458,Active,Orphanet,ORPHA:619233,Disorder,[Disease],Hereditary persistence of fetal hemoglobin-intellectual disability syndrome,[Dias-Logan syndrome],,,,,,,,,, +GARD:22459,Active,Orphanet,ORPHA:619249,Group of disorders,[Category],Rare hereditary connective tissue disease,,,,,,,,,,, +GARD:22460,Active,Orphanet,ORPHA:619284,Group of disorders,[Clinical group],Narcolepsy,[Narcolepsy with or without cataplexy],,,,,,,,,, +GARD:22461,Active,Orphanet,ORPHA:619340,Group of disorders,[Category],Inherited hematologic cancer-predisposing syndrome,,,,,,,,,,, +GARD:22462,Active,Orphanet,ORPHA:619363,Disorder,[Disease],Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18,"[Neonatal-onset autoinflammation-cytopenia-facial dysmorphism syndrome, Neonatal-onset severe multisystemic autoinflammatory disease with increased interleukin 18]",,,,,,,,,, +GARD:22463,Active,Orphanet,ORPHA:619367,Disorder,[Disease],SAMD9L-associated autoinflammatory syndrome,[SAMD9L-SAAD],,,,,,,,,, +GARD:22464,Active,Orphanet,ORPHA:619941,Disorder,[Disease],Immune deficiency due to impaired neutrophil phagocytosis and migration,"[Immunodeficiency due to impaired neutrophil phagocytosis and migration, MKL1-related neutrophil motility defect]",,,,,,,,,, +GARD:22465,Active,Orphanet,ORPHA:619948,Disorder,[Disease],Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome,[SOCS1-related autoinflammatory syndrome],,,,,,,,,, +GARD:22466,Active,Orphanet,ORPHA:619953,Disorder,[Disease],Familial hyperinflammatory lymphoproliferative immunodeficiency,"[HEM1 deficiency syndrome, NCKAP1L-associated hyperinflammatory disorder]",,,,,,,,,, +GARD:22467,Active,Orphanet,ORPHA:619972,Disorder,[Disease],CADINS disease,[CARD11-associated atopy with dominant interference of NF-kB signaling syndrome],,,,,,,,,, +GARD:22468,Active,Orphanet,ORPHA:619979,Disorder,[Disease],Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,,,,,,,,,,, +GARD:22469,Active,Orphanet,ORPHA:620096,Group of disorders,[Clinical group],Non-syndromic unisutural craniosynostosis,"[Isolated unisutural craniosynostosis, Non-syndromic single suture synostosis]",,,,,,,,,, +GARD:22470,Active,Orphanet,ORPHA:620102,Disorder,[Morphological anomaly],Non-syndromic unicoronal craniosynostosis,"[Isolated frontal plagiocephaly, Isolated unicoronal craniosynostosis, Non-syndromic anterior synostotic plagiocephaly, Non-syndromic frontoparietal craniosynostosis, Non-syndromic hemicoronal craniosynostosis, Non-syndromic unilateral coronal synostosis]",,,,,,,,,, +GARD:22471,Active,Orphanet,ORPHA:620113,Disorder,[Morphological anomaly],Non-syndromic unilambdoid craniosynostosis,"[Isolated occipital plagiocephaly, Isolated unilamboid craniosynostosis, Non-syndromic posterior synostotic plagiocephaly, Non-syndromic unilateral lambdoid synostosis]",,,,,,,,,, +GARD:22472,Active,Orphanet,ORPHA:620139,Disorder,[Morphological anomaly],Non-syndromic unifrontosphenoidal craniosynostosis,"[Isolated unifrontosphenoidal craniosynostosis, Isolated unilateral sphenofrontal suture synostosis, Non-syndromic unilateral frontosphenoidal suture synostosis]",,,,,,,,,, +GARD:22473,Active,Orphanet,ORPHA:620146,Disorder,[Morphological anomaly],Non-syndromic unisquamosal craniosynostosis,"[Isolated unisquamosal craniosynostosis, Non-syndromic unilateral squamosal suture synostosis]",,,,,,,,,, +GARD:22474,Active,Orphanet,ORPHA:620152,Group of disorders,[Clinical group],Non-syndromic multisutural craniosynostosis,"[Isolated multisutural craniosynostosis, Non-syndromic multiple suture synostosis]",,,,,,,,,, +GARD:22475,Active,Orphanet,ORPHA:620158,Disorder,[Morphological anomaly],Non-syndromic non-specific multisutural craniosynostosis,"[Isolated non-specific multisutural craniosynostosis, Non-syndromic non-specific multiple suture synostosis]",,,,,,,,,, +GARD:22476,Active,Orphanet,ORPHA:620178,Disorder,[Morphological anomaly],Non-syndromic bilambdoid craniosynostosis,"[Isolated bilambdoid craniosynostosis, Isolated pachycephaly, Non-syndromic bilateral lambdoid synostosis]",,,,,,,,,, +GARD:22477,Active,Orphanet,ORPHA:620186,Disorder,[Morphological anomaly],Non-syndromic unicoronal and sagittal craniosynostosis,"[Isolated unicoronal and sagittal craniosynostosis, Non-syndromic unilateral coronal and sagittal suture synostosis]",,,,,,,,,, +GARD:22478,Active,Orphanet,ORPHA:620192,Disorder,[Morphological anomaly],Non-syndromic metopic and sagittal craniosynostosis,"[Isolated metopic and sagittal craniosynostosis, Non-syndromic metopic and sagittal suture synostosis]",,,,,,,,,, +GARD:22479,Active,Orphanet,ORPHA:620198,Disorder,[Morphological anomaly],Non-syndromic bicoronal and metopic craniosynostosis,"[Isolated bicoronal and metopic craniosynostosis, Non-syndromic bilateral coronal and metopic suture synostosis]",,,,,,,,,, +GARD:22480,Active,Orphanet,ORPHA:620205,Disorder,[Morphological anomaly],Non-syndromic bicoronal and sagittal craniosynostosis,"[Isolated bicoronal and sagittal craniosynostosis, Non-syndromic sagittal and bilateral coronal synostosis]",,,,,,,,,, +GARD:22481,Active,Orphanet,ORPHA:620212,Disorder,[Morphological anomaly],Non-syndromic pansynostosis,"[Isolated pansynostosis, Non-syndromic synostosis of all cranial vault sutures]",,,,,,,,,, +GARD:22482,Active,Orphanet,ORPHA:620217,Subtype of disorder,[Clinical subtype],Bartter syndrome type 1,[Bartter syndrome type I],,,,,,,,,, +GARD:22483,Active,Orphanet,ORPHA:620220,Subtype of disorder,[Clinical subtype],Bartter syndrome type 2,[Bartter syndrome type II],,,,,,,,,, +GARD:22484,Active,Orphanet,ORPHA:620363,Disorder,[Disease],Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,,,,,,,,,,, +GARD:22485,Active,Orphanet,ORPHA:620368,Disorder,[Disease],EGF-related primary hypomagnesemia with intellectual disability,,,,,,,,,,, +GARD:22486,Active,Orphanet,ORPHA:620371,Disorder,[Disease],Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,[Gitelman-like kidney tubulopathy due to mtDNA mutation],,,,,,,,,, +GARD:22487,Active,Orphanet,ORPHA:621758,Disorder,[Disease],Fibrosis-neurodegeneration-cerebral angiomatosis syndrome,"[FINCA, Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome]",,,,,,,,,, +GARD:22488,Active,Orphanet,ORPHA:622720,Group of disorders,[Category],Genetic autoinflammatory syndrome with skin involvement,,,,,,,,,,, +GARD:22489,Active,Orphanet,ORPHA:622914,Group of disorders,[Category],Rare genetic nevus,,,,,,,,,,, +GARD:2249,Active,Orphanet,ORPHA:91387,Disorder,[Disease],Familial thoracic aortic aneurysm and aortic dissection,"[Familial TAAD, Familial non-syndromic thoracic aortic aneurysm and aortic dissection]","Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.","[614816, 132900, 615582, 607086, 617168, 610168, 609192, 615436, 607087, 611788, 613780, 616166]",,,,,Familial thoracic aortic aneurysm and aortic dissection,TRUE,FALSE,Active +GARD:22490,Active,Orphanet,ORPHA:622925,Disorder,[Malformation syndrome],X-linked severe syndromic thoracic aortic aneurysm and dissection,"[Meester-Loeys syndrome, X-linked severe syndromic TAAD]",,,,,,,,,, +GARD:22491,Active,Orphanet,ORPHA:622934,Disorder,[Malformation syndrome],SBDS-related severe neonatal spondylometaphyseal dysplasia,"[SBDS-related severe neonatal SMD, Spondylometaphyseal dysplasia, Sedaghatian-like type]",,,,,,,,,, +GARD:22492,Active,Orphanet,ORPHA:623615,Disorder,[Disease],Autoimmune limbic encephalitis,[ALE],"A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.",,,,,,,,, +GARD:22493,Active,Orphanet,ORPHA:623626,Disorder,[Disease],Paraneoplastic cerebellar degeneration,"[PCD, Paraneoplastic cerebellar ataxia, Rapidely progressive cerebellar syndrome, Subacute cerebellar degeneration]",,,,,,,,,, +GARD:22494,Active,Orphanet,ORPHA:623638,Group of disorders,[Clinical group],Immune-mediated cerebellar ataxia,"[Autoimmune cerebellitis, IMCA]",,,,,,,,,, +GARD:22495,Active,Orphanet,ORPHA:623695,Disorder,[Malformation syndrome],MIR140-related spondyloepiphyseal dysplasia,"[MIR140-related SED, Spondyloepiphyseal dysplasia with severe brachydactyly and cone-shaped epiphyses]",,,,,,,,,, +GARD:22496,Active,Orphanet,ORPHA:623789,Disorder,[Disease],Body integrity dysphoria,"[BID, BIID, Body integrity identity disorder]",,,,,,,,,, +GARD:22497,Active,Orphanet,ORPHA:624166,Disorder,[Disease],Non-specific autoimmune supratentorial encephalitis with characteristic antibodies,[Non-specific supratentorial AE with characteristic antibodies],,,,,,,,,, +GARD:22498,Active,Orphanet,ORPHA:624178,Disorder,[Disease],Non-specific autoimmune supratentorial encephalitis without characteristic antibodies,[Non-specific supratentorial AE without characteristic antibodies],,,,,,,,,, +GARD:22499,Active,Orphanet,ORPHA:624190,Disorder,[Disease],Paraneoplastic isolated brainstem encephalitis,"[Paraneoplastic isolated rhombencephalitis, Paraneoplastic isolated rhomboencephalitis]",,,,,,,,,, +GARD:225,Active,Orphanet,ORPHA:93321,Disorder,[Morphological anomaly],Radial hemimelia,"[Congenital longitudinal deficiency of the radius, Radial clubhand, Radial longitidinal meromelia, Radial ray agenesis]",A rare congenital limb malformation characterized by partial or total absence of the radius.,,,,,,Radial ray agenesis,TRUE,FALSE,Active +GARD:2250,Active,Orphanet+OMIM,OMIM:600348,Subtype of disorder,[Morphological anomaly subtype],Band heterotopia,,,[600348],[99796],[Subcortical band heterotopia],[1904],,Familial band heterotopia,TRUE,FALSE,Active +GARD:22500,Active,Orphanet,ORPHA:624199,Disorder,[Disease],Non-specific autoimmune brainstem encephalitis with characteristic antibodies,"[Non-specific autoimmune rhombencephalitis with characteristic antibodies, Non-specific autoimmune rhomboencephalitis with characteristic antibodies]",,,,,,,,,, +GARD:22501,Active,Orphanet,ORPHA:624216,Disorder,[Disease],Non-specific autoimmune brainstem encephalitis without characteristic antibodies,"[Non-specific autoimmune rhombencephalitis without characteristic antibodies, Non-specific autoimmune rhomboencephalitis without characteristic antibodies]",,,,,,,,,, +GARD:22502,Active,Orphanet,ORPHA:624244,Disorder,[Disease],Postinfectious cerebellitis,"[ACA, APCA, Acute cerebellar ataxia, Acute postinfectious cerebellar ataxia, PIC, Para-infectious cerebellitis]",,,,,,,,,, +GARD:22503,Active,Orphanet,ORPHA:624259,Disorder,[Disease],Non-specific autoimmune cerebellar ataxia with characteristic antibodies,[Non-specific autoimmune CA with characteristic antibodies],,,,,,,,,, +GARD:22504,Active,Orphanet,ORPHA:624268,Disorder,[Disease],Non-specific autoimmune cerebellar ataxia without characteristic antibodies,"[Non-specific autoimmune CA without characteristic antibodies, PACA, Primary Autoimmune Cerebellar Ataxia]",,,,,,,,,, +GARD:22505,Active,Orphanet,ORPHA:52662,Group of disorders,[Category],Rare teratologic disease,[Acquired embryofetopathy],,,,,,,,,, +GARD:22506,Active,Orphanet,ORPHA:57146,Group of disorders,[Category],Rare hepatic disease,,,,,,,,,,, +GARD:22507,Active,Orphanet,ORPHA:68329,Group of disorders,[Category],Rare maxillo-facial surgical disease,[Rare maxillofacial anomaly],,,,,,,,,, +GARD:22508,Active,Orphanet,ORPHA:68367,Group of disorders,[Category],Rare inborn errors of metabolism,[Rare metabolic disease],,,,,,,,,, +GARD:22509,Active,Orphanet,ORPHA:68416,Group of disorders,[Category],Rare infectious disease,,,,,,,,,,, +GARD:2251,Legacy,GARD,,,,,,,,,,,,Familial hypertension,FALSE,FALSE,Active +GARD:22510,Active,Orphanet,ORPHA:89826,Group of disorders,[Category],Rare skin disease,,,,,,,,,,, +GARD:22511,Active,Orphanet,ORPHA:93419,Group of disorders,[Category],Rare bone disease,,,,,,,,,,, +GARD:22512,Active,Orphanet,ORPHA:93626,Group of disorders,[Category],Rare renal disease,,,,,,,,,,, +GARD:22513,Active,Orphanet,ORPHA:93890,Group of disorders,[Category],Rare developmental defect during embryogenesis,[Malformation syndrome],,,,,,,,,, +GARD:22514,Active,Orphanet,ORPHA:96344,Group of disorders,[Category],Rare gynecologic or obstetric disease,,,,,,,,,,, +GARD:22515,Active,Orphanet,ORPHA:97929,Group of disorders,[Category],Rare cardiac disease,,,,,,,,,,, +GARD:22516,Active,Orphanet,ORPHA:97935,Group of disorders,[Category],Rare gastroenterologic disease,,,,,,,,,,, +GARD:22517,Active,Orphanet,ORPHA:97955,Group of disorders,[Category],Rare respiratory disease,,,,,,,,,,, +GARD:22518,Active,Orphanet,ORPHA:97962,Group of disorders,[Category],Rare surgical thoracic disease,,,,,,,,,,, +GARD:22519,Active,Orphanet,ORPHA:97965,Group of disorders,[Category],Rare surgical cardiac disease,,,,,,,,,,, +GARD:2252,Active,Orphanet,ORPHA:467,Group of disorders,[Category],Non-acquired combined pituitary hormone deficiency,"[Congenital combined pituitary hormone deficiency, Congenital hypopituitarism]","Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.",,,,,,Congenital hypopituitarism,TRUE,FALSE,Active +GARD:22520,Active,Orphanet,ORPHA:97966,Group of disorders,[Category],Rare ophthalmic disorder,,,,,,,,,,, +GARD:22521,Active,Orphanet,ORPHA:97978,Group of disorders,[Category],Rare endocrine disease,,,,,,,,,,, +GARD:22522,Active,Orphanet,ORPHA:97992,Group of disorders,[Category],Rare hematologic disease,,,,,,,,,,, +GARD:22523,Active,Orphanet,ORPHA:98004,Group of disorders,[Category],Rare immune disease,,,,,,,,,,, +GARD:22524,Active,Orphanet,ORPHA:98006,Group of disorders,[Category],Rare neurologic disease,[Rare nervous system disease],,,,,,,,,, +GARD:22525,Active,Orphanet,ORPHA:98023,Group of disorders,[Category],Rare systemic or rheumatologic disease,,,,,,,,,,, +GARD:22526,Active,Orphanet,ORPHA:98026,Group of disorders,[Category],Rare odontologic disease,,,,,,,,,,, +GARD:22527,Active,Orphanet,ORPHA:98028,Group of disorders,[Category],Rare circulatory system disease,,,,,,,,,,, +GARD:22528,Active,Orphanet,ORPHA:98036,Group of disorders,[Category],Rare otorhinolaryngologic disease,,,,,,,,,,, +GARD:22529,Active,Orphanet,ORPHA:98047,Group of disorders,[Category],Rare infertility,,,,,,,,,,, +GARD:22530,Active,Orphanet,ORPHA:98050,Group of disorders,[Category],Rare allergic disease,[Rare allergy],,,,,,,,,, +GARD:22531,Active,Orphanet,ORPHA:98053,Group of disorders,[Category],Rare genetic disease,,,,,,,,,,, +GARD:22532,Active,Orphanet,ORPHA:101433,Group of disorders,[Category],Rare urogenital disease,,,,,,,,,,, +GARD:22533,Active,Orphanet,ORPHA:108999,Group of disorders,[Category],Rare disorder due to toxic effects,,,,,,,,,,, +GARD:22534,Active,Orphanet,ORPHA:165711,Group of disorders,[Category],Rare abdominal surgical disease,,,,,,,,,,, +GARD:22535,Active,Orphanet,ORPHA:250908,Group of disorders,[Category],Rare neoplastic disease,[Rare tumoral disease],,,,,,,,,, +GARD:22536,Active,Orphanet,ORPHA:565779,Group of disorders,[Category],Rare disorder potentially indicated for transplant or complication after transplantation,,,,,,,,,,, +GARD:22537,Active,Orphanet+OMIM,OMIM:249500,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 1","[Mental retardation, autosomal recessive 1]",,[249500],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22538,Active,Orphanet+OMIM,OMIM:607417,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 2","[mental retardation, autosomal recessive 2a, Mental retardation, autosomal recessive 2]",,[607417],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22539,Active,Orphanet+OMIM,OMIM:608443,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 3","[Mental retardation, autosomal recessive 3]",,[608443],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:2254,Active,Orphanet,ORPHA:922,Disorder,[Disease],Familial nasal acilia,,"Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.",,,,,,Familial nasal acilia,TRUE,FALSE,Active +GARD:22540,Active,Orphanet+OMIM,OMIM:611090,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 12",,,[611090],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22541,Active,Orphanet+OMIM,OMIM:611091,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 5","[Mental retardation, autosomal recessive 5]",,[611091],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22542,Active,Orphanet+OMIM,OMIM:611092,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 6","[Mental retardation, autosomal recessive 6]",,[611092],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22543,Active,Orphanet+OMIM,OMIM:611093,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 7","[mental retardation, autosomal recessive 22, Intellectual developmental disorder 22, mental retardation, autosomal recessive 7]",,[611093],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22544,Active,Orphanet+OMIM,OMIM:611095,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 9",,,[611095],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22545,Active,Orphanet+OMIM,OMIM:611096,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 10",,,[611096],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22546,Active,Orphanet+OMIM,OMIM:611097,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 11",,,[611097],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22547,Active,Orphanet+OMIM,OMIM:611107,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 4",,,[611107],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22548,Active,Orphanet+OMIM,OMIM:613192,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 13","[Mental retardation, autosomal recessive 13]",,[613192],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22549,Active,Orphanet+OMIM,OMIM:614020,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 14","[Mental retardation, autosomal recessive 14]",,[614020],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22550,Active,Orphanet+OMIM,OMIM:614202,Subtype of disorder,[Etiological subtype],Rafiq syndrome,"[Cdg2u, mental retardation, autosomal recessive 15, formerly]","Rafiq syndrome (RAFQS) is an autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern (summary by {1:Balasubramanian et al., 2019}).",[614202],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22551,Active,Orphanet+OMIM,OMIM:614208,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 16",,,[614208],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22552,Active,Orphanet+OMIM,OMIM:614249,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy","[Intellectual developmental disorder, autosomal recessive 18, mental retardation, autosomal recessive 18]","MRT18 is an autosomal recessive disorder characterized by impaired intellectual development with or without epilepsy. Other features may include spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography (summary by {6:Trehan et al., 2015}).",[614249],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22553,Active,Orphanet+OMIM,OMIM:614329,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 31",,,[614329],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22554,Active,Orphanet+OMIM,OMIM:614333,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 29",,,[614333],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22555,Active,Orphanet+OMIM,OMIM:614340,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 27","[Mental retardation, autosomal recessive 27]",,[614340],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22556,Active,Orphanet+OMIM,OMIM:614341,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 33",,,[614341],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22557,Active,Orphanet+OMIM,OMIM:614342,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 30",,,[614342],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22558,Active,Orphanet+OMIM,OMIM:614343,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 19",,,[614343],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22559,Active,Orphanet+OMIM,OMIM:614344,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 23",,,[614344],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:2256,Active,Orphanet,ORPHA:93337,Disorder,[Morphological anomaly],Polydactyly of an index finger,"[PPD3, Preaxial polydactyly type 3]","Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962.",[174600],,,,,Preaxial polydactyly type 3,TRUE,FALSE,Active +GARD:22560,Active,Orphanet+OMIM,OMIM:614345,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 24",,,[614345],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22561,Active,Orphanet+OMIM,OMIM:614346,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 25",,,[614346],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22562,Active,Orphanet+OMIM,OMIM:614347,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 28",,,[614347],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22563,Active,Orphanet+OMIM,OMIM:614499,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly","[Mental retardation, autosomal recessive 34, with variant lissencephaly]","MRT34 is an autosomal recessive neurologic disorder characterized by mildly to moderately impaired intellectual development and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by {1:Di Donato et al., 2016}).",[614499],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22564,Active,Orphanet+OMIM,OMIM:615802,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities","[mental retardation, autosomal recessive 42, Glycosylphosphatidylinositol biosynthesis defect 9]","Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities (NEDDSBA) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include nonspecific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment (summary by {1:Bosch et al., 2015}). {4:Novarino et al. (2014)} labeled the disorder 'spastic paraplegia-67' (SPG67). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).",[615802],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22565,Active,Orphanet+OMIM,OMIM:615817,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 43","[Mental retardation, autosomal recessive 43]","Autosomal recessive intellectual developmental disorder-43 (MRT43) is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features. Some patients may have significant motor delays (summary by {1:Gangfuss et al., 2022}).",[615817],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22566,Active,Orphanet+OMIM,OMIM:615942,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 44","[Mental retardation, autosomal recessive 44]",,[615942],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22567,Active,Orphanet+OMIM,OMIM:615979,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 45",,,[615979],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22568,Active,Orphanet+OMIM,OMIM:616116,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 46","[Mental retardation, autosomal recessive 46]",,[616116],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22569,Active,Orphanet+OMIM,OMIM:616193,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 47","[Mental retardation, autosomal recessive 47]",,[616193],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:2257,Active,Orphanet,ORPHA:101046,Disorder,[Disease],Autosomal dominant epilepsy with auditory features,"[ADEAF, ADLTE, ADPEAF, Autosomal dominant lateral temporal lobe epilepsy, Partial epilepsy with auditory aura, Partial epilepsy with auditory features]","A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.","[600512, 616461, 616436]",,,,,Autosomal dominant partial epilepsy with auditory features,TRUE,FALSE,Active +GARD:22570,Active,Orphanet+OMIM,OMIM:616460,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 50","[Mental retardation, autosomal recessive 50]",,[616460],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22571,Active,Orphanet+OMIM,OMIM:616739,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 51","[Mental retardation, autosomal recessive 51]",,[616739],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22572,Active,Orphanet+OMIM,OMIM:616887,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 52","[Mental retardation, autosomal recessive 52]",,[616887],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22573,Active,Orphanet+OMIM,OMIM:617028,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 54","[Mental retardation, autosomal recessive 54]",,[617028],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22574,Active,Orphanet+OMIM,OMIM:617125,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 56","[Mental retardation, autosomal recessive 56]",,[617125],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22575,Active,Orphanet+OMIM,OMIM:617188,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 57",,,[617188],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22576,Active,Orphanet+OMIM,OMIM:617709,Subtype of disorder,[Etiological subtype],"Neurodevelopmental disorder with microcephaly, ataxia, and seizures",,"Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) is an autosomal recessive disorder characterized by developmental delay, deafness, cardiomyopathy, epilepsy, and severe febrile decompensations (summary by {2:Ravel et al., 2021}).",[617709],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22577,Active,Orphanet+OMIM,OMIM:617816,Subtype of disorder,[Etiological subtype],Glycosylphosphatidylinositol biosynthesis defect 16,"[Mental retardation, autosomal recessive 62]",,[617816],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22578,Active,Orphanet+OMIM,OMIM:618109,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 65","[Mental retardation, autosomal recessive 65]",,[618109],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22579,Active,Orphanet+OMIM,OMIM:618221,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 66","[Mental retardation, autosomal recessive 66]","MRT66 is a nonsyndromic autosomal recessive intellectual developmental disorder with delayed speech development, neuropsychiatric symptoms, and relatively normal life span ({2:Philips et al., 2017}).",[618221],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:2258,Active,Orphanet,ORPHA:99810,Subtype of disorder,[Etiological subtype],Familial porencephaly,,,"[175780, 614483]",,,,,Familial porencephaly,TRUE,FALSE,Active +GARD:22580,Active,Orphanet+OMIM,OMIM:618402,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, autosomal recessive 70","[Mental retardation, autosomal recessive 70]","MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients ({1:Maddirevula et al., 2018}; {2:Perez et al., 2018}).",[618402],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22581,Active,Orphanet+OMIM,OMIM:618687,Subtype of disorder,[Etiological subtype],Intellectual developmental disorder with short stature and behavioral abnormalities,,,[618687],[88616],[Autosomal recessive non-syndromic intellectual disability],[18643],,,,, +GARD:22582,Active,Orphanet+OMIM,OMIM:600060,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 2",[Neurosensory nonsyndromic recessive deafness 2],,[600060],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22583,Active,Orphanet+OMIM,OMIM:600316,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 3",[Neurosensory nonsyndromic recessive deafness 3],,[600316],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22584,Active,Orphanet+OMIM,OMIM:600791,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct","[Neurosensory nonsyndromic recessive deafness 4, dilated vestibular aqueduct]","DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing loss, which may be fluctuating or progressive. The hearing loss is associated with temporal bone abnormalities, most commonly enlargement of the vestibular aqueduct, but it can also include the more severe Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns (summary by {8:Campbell et al., 2001} and {21:Pryor et al., 2005}). Enlarged vestibular aqueduct is the most common form of inner ear abnormality and can be associated with disequilibrium symptoms in a minority of patients ({25:Valvassori, 1983}; {15:Jackler and de la Cruz, 1989}; {16:Levenson et al., 1989}; {4:Arcand et al., 1991}; {7:Belenky et al., 1993}; {18:Okumura et al., 1995}).",[600791],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22585,Active,Orphanet+OMIM,OMIM:600792,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 5",,,[600792],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22586,Active,Orphanet+OMIM,OMIM:600971,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 6",[Neurosensory nonsyndromic recessive deafness 6],,[600971],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22587,Active,Orphanet+OMIM,OMIM:600974,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 7","[Deafness, autosomal recessive 11]",,[600974],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22588,Active,Orphanet+OMIM,OMIM:601071,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 9",[Neurosensory nonsyndromic recessive deafness 9],,[601071],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22589,Active,Orphanet+OMIM,OMIM:601072,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 8","[deafness, childhood-onset neurosensory, autosomal recessive 8, Deafness, autosomal recessive 10, neurosensory nonsyndromic recessive deafness 8]",,[601072],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:2259,Active,Orphanet,ORPHA:2456,Disorder,[Morphological anomaly],Familial supernumerary nipples,[Isolated polythelia],"Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.",[163700],,,,,Supernumerary nipple,FALSE,FALSE,Active +GARD:22590,Active,Orphanet+OMIM,OMIM:601386,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 12",,,[601386],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22591,Active,Orphanet+OMIM,OMIM:601869,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 15","[Deafness, autosomal recessive 72, deafness, autosomal recessive 95]","This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset (summary by {3:Charizopoulou et al., 2011}).",[601869],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22592,Active,Orphanet+OMIM,OMIM:602092,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 18a","[Deafness, autosomal recessive 18]",,[602092],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22593,Active,Orphanet+OMIM,OMIM:603010,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 17",,,[603010],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22594,Active,Orphanet+OMIM,OMIM:603098,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 13",,,[603098],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22595,Active,Orphanet+OMIM,OMIM:603629,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 21",,,[603629],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22596,Active,Orphanet+OMIM,OMIM:603678,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 14",,,[603678],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22597,Active,Orphanet+OMIM,OMIM:603720,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 16",,,[603720],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22598,Active,Orphanet+OMIM,OMIM:604060,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 20",,,[604060],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22599,Active,Orphanet+OMIM,OMIM:605428,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 26",,"DFNB26 is characterized by prelingual severe to profound nonsyndromic hearing loss ({3:Yousaf et al., 2018}).",[605428],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:226,Active,Orphanet,ORPHA:769,Disorder,[Malformation syndrome],Rabson-Mendenhall syndrome,,"A rare syndrome that belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).",[262190],,,,,Rabson-Mendenhall syndrome,TRUE,FALSE,Active +GARD:22600,Active,Orphanet+OMIM,OMIM:605818,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 27",,"By use of autozygosity mapping in a large consanguineous family from the United Arab Emirates, {1:Pulleyn et al. (2000)} identified a locus for autosomal recessive nonsyndromic, prelingual, sensorineural hearing impairment, designated DFNB27, on chromosome 2q23-q31. An ancestral haplotype was shared by all 7 affected members, with a 17-cM minimum critical region between markers D2S2157 and D2S2273 and a maximum 2-point lod score of 5.18 at theta = 0.0 for marker D2S2257. The DFNB27 critical region overlapped with the critical region to which another deafness locus, DFNA16 ({603964}), had been mapped in a family with fluctuating, progressive autosomal dominant nonsyndromic hearing loss. The authors noted that several sodium-channel alpha-subunit genes map to the critical region and are candidate genes for both DFNA16 and DFNB27.",[605818],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22601,Active,Orphanet+OMIM,OMIM:607039,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 22",,,[607039],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22602,Active,Orphanet+OMIM,OMIM:607084,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 31","[Whirler, mouse, homolog of]",,[607084],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22603,Active,Orphanet+OMIM,OMIM:607101,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 30",,,[607101],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22604,Active,Orphanet+OMIM,OMIM:607239,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 33",,,[607239],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22605,Active,Orphanet+OMIM,OMIM:607821,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 37",,,[607821],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22606,Active,Orphanet+OMIM,OMIM:608219,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 38",,,[608219],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22607,Active,Orphanet+OMIM,OMIM:608264,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 40",,,[608264],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22608,Active,Orphanet+OMIM,OMIM:608265,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 39",,,[608265],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22609,Active,Orphanet+OMIM,OMIM:608565,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 35",,,[608565],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22610,Active,Orphanet+OMIM,OMIM:608653,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 32, with or without immotile sperm","[deafness, autosomal recessive 105, formerly, Hearing impairment infertile male syndrome]","DFNB32 is characterized by prelingual progressive moderate to profound sensorineural deafness. Some affected men are infertile, and semen analysis has shown high percentages of immotile sperm with abnormal morphology ({2:Imtiaz et al., 2018}).",[608653],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22611,Active,Orphanet+OMIM,OMIM:609006,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 36, with or without vestibular involvement",,,[609006],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22612,Active,Orphanet+OMIM,OMIM:609439,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 48",,"DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by {3:Riazuddin et al., 2012}).",[609439],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22613,Active,Orphanet+OMIM,OMIM:609533,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 23",,,[609533],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22614,Active,Orphanet+OMIM,OMIM:609646,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 42",,,[609646],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22615,Active,Orphanet+OMIM,OMIM:609647,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 46",,,[609647],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22616,Active,Orphanet+OMIM,OMIM:609706,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 53",,,[609706],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22617,Active,Orphanet+OMIM,OMIM:609823,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 28",,,[609823],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22618,Active,Orphanet+OMIM,OMIM:610143,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 62",,,[610143],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22619,Active,Orphanet+OMIM,OMIM:610153,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 49",,"Autosomal recessive deafness-49 (DFNB49) is characterized by prelingual profound sensorineural hearing loss at all frequencies ({3:Riazuddin et al., 2006} and {1:Chishti et al., 2008}).",[610153],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22620,Active,Orphanet+OMIM,OMIM:610154,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 44",,,[610154],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22621,Active,Orphanet+OMIM,OMIM:610212,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 66",,,[610212],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22622,Active,Orphanet+OMIM,OMIM:610220,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 59",,,[610220],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22623,Active,Orphanet+OMIM,OMIM:610248,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 65",,,[610248],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22624,Active,Orphanet+OMIM,OMIM:610265,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 67",,,[610265],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22625,Active,Orphanet+OMIM,OMIM:610419,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 68",,,[610419],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22626,Active,Orphanet+OMIM,OMIM:611022,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 24",,,[611022],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22627,Active,Orphanet+OMIM,OMIM:611451,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 63",,,[611451],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22628,Active,Orphanet+OMIM,OMIM:612433,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 45",,,[612433],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22629,Active,Orphanet+OMIM,OMIM:612645,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 1b",,,[612645],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:2263,Legacy,GARD,,,,,,,,,,,,Familial ventricular tachycardia,TRUE,FALSE,Active +GARD:22630,Active,Orphanet+OMIM,OMIM:612789,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 71",,,[612789],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22631,Active,Orphanet+OMIM,OMIM:613079,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 77",,,[613079],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22632,Active,Orphanet+OMIM,OMIM:613285,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 25",,,[613285],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22633,Active,Orphanet+OMIM,OMIM:613307,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 79",,,[613307],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22634,Active,Orphanet+OMIM,OMIM:613391,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 84a","[deafness, autosomal recessive 84a, with vestibular dysfunction, Deafness, autosomal recessive 84]",,[613391],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22635,Active,Orphanet+OMIM,OMIM:613392,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 85",,,[613392],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22636,Active,Orphanet+OMIM,OMIM:613453,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 91",,,[613453],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22637,Active,Orphanet+OMIM,OMIM:613685,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 83",,,[613685],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22638,Active,Orphanet+OMIM,OMIM:613718,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 74",,,[613718],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22639,Active,Orphanet+OMIM,OMIM:613865,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 61",,,[613865],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22640,Active,Orphanet+OMIM,OMIM:613916,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 89",,,[613916],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22641,Active,Orphanet+OMIM,OMIM:614035,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 29",,,[614035],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22642,Active,Orphanet+OMIM,OMIM:614414,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 96",,"Autosomal recessive deafness-96 (DFNB96) is a form of nonsyndromic sensorineural severe to profound hearing impairment with prelingual onset (summary by {1:Ansar et al., 2011}).",[614414],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22643,Active,Orphanet+OMIM,OMIM:614617,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 86",,,[614617],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22644,Active,Orphanet+OMIM,OMIM:614861,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 98",,"This form of autosomal recessive nonsyndromic deafness is sensorineural and shows prelingual onset ({1:Delmaghani et al., 2012}).",[614861],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22645,Active,Orphanet+OMIM,OMIM:614899,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 93",,"Autosomal recessive deafness-93 is characterized by moderate to severe prelingual deafness and a distinctive U-shaped audiogram ({2:Tabatabaiefar et al., 2011}).",[614899],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22646,Active,Orphanet+OMIM,OMIM:614934,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 70",,,[614934],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22647,Active,Orphanet+OMIM,OMIM:614944,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 84b",,,[614944],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22648,Active,Orphanet+OMIM,OMIM:614945,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 18b",,,[614945],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22649,Active,Orphanet+OMIM,OMIM:615429,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 88",,,[615429],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22650,Active,Orphanet+OMIM,OMIM:615540,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 76",,,[615540],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22651,Active,Orphanet+OMIM,OMIM:615837,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 101",,,[615837],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22652,Active,Orphanet+OMIM,OMIM:615974,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 102",,,[615974],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22653,Active,Orphanet+OMIM,OMIM:616042,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 103",,,[616042],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22654,Active,Orphanet+OMIM,OMIM:616515,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 104",,,[616515],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22655,Active,Orphanet+OMIM,OMIM:616705,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 97",,,[616705],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22656,Active,Orphanet+OMIM,OMIM:617637,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 106",,,[617637],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22657,Active,Orphanet+OMIM,OMIM:617639,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 107",,,[617639],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22658,Active,Orphanet+OMIM,OMIM:617654,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 108",,,[617654],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22659,Active,Orphanet+OMIM,OMIM:618145,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 111",,"DFNB111 is characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement ({2:Wesdorp et al., 2018}; {1:Bademci et al., 2018}).",[618145],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22660,Active,Orphanet+OMIM,OMIM:618422,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 100",,"DFNB100 is characterized by prelingual onset of profound sensorineural deafness without vestibular involvement ({2:Yousaf et al., 2018}).",[618422],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22661,Active,Orphanet+OMIM,OMIM:618434,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 94",,"DFNB94 is characterized by prelingual profound sensorineural hearing loss ({1:Simon et al., 2015}).",[618434],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22662,Active,Orphanet+OMIM,OMIM:618456,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 114",,"DFNB114 is characterized by congenital profound sensorineural hearing loss ({1:Li et al., 2019}).",[618456],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22663,Active,Orphanet+OMIM,OMIM:618481,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 99",,"DFNB99 is characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction ({1:Cheng et al., 2003}).",[618481],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22664,Active,Orphanet+OMIM,OMIM:619093,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 116",,"Autosomal recessive deafness-116 (DFNB116) is characterized by slowly progressive moderate to profound sensorineural hearing loss (SNHL), with a steeply sloping audiogram in the high frequencies in younger patients ({1:Sineni et al., 2019}).",[619093],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22665,Active,Orphanet+OMIM,OMIM:619174,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 117",,"Autosomal recessive deafness-117 (DFNB117) is characterized by nonsyndromic bilateral moderate-to-profound sensorineural deafness, with onset in early childhood ({1:Vona et al., 2021}).",[619174],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,,,, +GARD:22666,Active,Orphanet+OMIM,OMIM:300046,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 23",,,[300046],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22667,Active,Orphanet+OMIM,OMIM:300047,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 20",,"Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Impaired intellectual development that is not associated with other distinguishing features is referred to as 'nonspecific.'\n\nThe Human Gene Mapping Nomenclature Committee ({2:Mulley et al., 1992}) proposed to designate each newly reported apparently unique X-linked mental retardation (MRX) family with gene symbols (e.g., MRX1, MRX2) if a minimal lod score of 2.0 was demonstrated between the MR locus and one or more X chromosome markers.",[300047],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22668,Active,Orphanet+OMIM,OMIM:300115,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 50","[Mental retardation, x-linked 50]",,[300115],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22669,Active,Orphanet+OMIM,OMIM:300143,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 21","[mental retardation, x-linked 34, Mental retardation, x-linked 21]","X-linked intellectual developmental disorder-21 (XLID21) is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderately impaired intellectual development to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by {11:Piton et al., 2008}).",[300143],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22670,Active,Orphanet+OMIM,OMIM:300210,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 58","[Mental retardation, x-linked 58]",,[300210],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22671,Active,Orphanet+OMIM,OMIM:300271,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 72","[Mental retardation, x-linked 72]",,[300271],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22672,Active,Orphanet+OMIM,OMIM:300324,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 53",,,[300324],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22673,Active,Orphanet+OMIM,OMIM:300355,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 73",,,[300355],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22674,Active,Orphanet+OMIM,OMIM:300372,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 42",,,[300372],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22675,Active,Orphanet+OMIM,OMIM:300428,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 2",,,[300428],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22676,Active,Orphanet+OMIM,OMIM:300433,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 81",,,[300433],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22677,Active,Orphanet+OMIM,OMIM:300436,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 46",,,[300436],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22678,Active,Orphanet+OMIM,OMIM:300454,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 77",,,[300454],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22679,Active,Orphanet+OMIM,OMIM:300498,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 45",,,[300498],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:2268,Active,Orphanet,ORPHA:2088,Disorder,[Disease],Fanconi-Bickel syndrome,"[GSD due to GLUT2 deficiency, Glycogen storage disease due to GLUT2 deficiency, Glycogenosis due to GLUT2 deficiency]","A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.",[227810],,,,,Fanconi Bickel syndrome,TRUE,FALSE,Active +GARD:22680,Active,Orphanet+OMIM,OMIM:300505,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 84",,,[300505],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22681,Active,Orphanet+OMIM,OMIM:300518,Subtype of disorder,[Etiological subtype],"Mental retardation, x-linked 82",,,[300518],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22682,Active,Orphanet+OMIM,OMIM:300558,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 30","[Mental retardation, x-linked 30, mental retardation, x-linked 47]",,[300558],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22683,Active,Orphanet+OMIM,OMIM:300705,Subtype of disorder,[Etiological subtype],Chromosome xp11.22 duplication syndrome,,,[300705],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22684,Active,Orphanet+OMIM,OMIM:300716,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 95",,,[300716],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22685,Active,Orphanet+OMIM,OMIM:300802,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 96","[Mental retardation, x-linked 96]",,[300802],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22686,Active,Orphanet+OMIM,OMIM:300803,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 97","[mental retardation, x-linked 65, Mental retardation, x-linked 97, mrxz]",,[300803],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22687,Active,Orphanet+OMIM,OMIM:300844,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 19","[Mental retardation, x-linked 19]","X-linked intellectual development disorder-19 (XLID19) is characterized by mildly to moderately impaired intellectual development. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS; {303600}), a syndrome with impaired intellectual deveopment, dysmorphic facial features, and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with impaired intellectual development and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by {3:Field et al., 2006}).",[300844],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22688,Active,Orphanet+OMIM,OMIM:300848,Subtype of disorder,[Etiological subtype],"Mental retardation, x-linked 89",,,[300848],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22689,Active,Orphanet+OMIM,OMIM:300849,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 41","[Mental retardation, x-linked 41, mental retardation, x-linked 48]",,[300849],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:2269,Legacy,GARD,,,,,,,,,,,,Fanconi ichthyosis dysmorphism,TRUE,FALSE,Retired +GARD:22690,Active,Orphanet+OMIM,OMIM:300850,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 90","[Mental retardation, x-linked 90]",,[300850],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22691,Active,Orphanet+OMIM,OMIM:300851,Subtype of disorder,[Etiological subtype],"Mental retardation, x-linked 92",,,[300851],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22692,Active,Orphanet+OMIM,OMIM:300852,Subtype of disorder,[Etiological subtype],"Mental retardation, x-linked 88",,,[300852],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22693,Active,Orphanet+OMIM,OMIM:300919,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 99","[Mental retardation, x-linked 99]",,[300919],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22694,Active,Orphanet+OMIM,OMIM:300928,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 101","[Mental retardation, x-linked 101]",,[300928],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22695,Active,Orphanet+OMIM,OMIM:300978,Subtype of disorder,[Etiological subtype],Tonne-kalscheuer syndrome,"[mental retardation, x-linked 61, Intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia]","Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities (summary by {1:Frints et al., 2019}).\n\nAlso see Fryns syndrome ({229850}), an autosomal recessive disorder with overlapping features.",[300978],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22696,Active,Orphanet+OMIM,OMIM:300983,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 104","[Mental retardation, x-linked 104]",,[300983],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22697,Active,Orphanet+OMIM,OMIM:300984,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 105","[Mental retardation, x-linked 105]",,[300984],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22698,Active,Orphanet+OMIM,OMIM:301013,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 107","[Mental retardation, x-linked 107]",,[301013],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:22699,Active,Orphanet+OMIM,OMIM:309530,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 1","[mrx, mental retardation, x-linked 18, Mental retardation, x-linked 1, mental retardation, x-linked 78]",,[309530],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:2270,Legacy,GARD,,,,,,,,,,,,Fanconi like syndrome,TRUE,FALSE,Retired +GARD:22700,Active,Orphanet+OMIM,OMIM:309549,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 9","[mental retardation, x-linked 44, Mental retardation, x-linked 9]",,[309549],[777],[X-linked non-syndromic intellectual disability],[18640],,,,, +GARD:2273,Legacy,GARD,,,,,,,,,,,,Fara Chlupackova syndrome,TRUE,FALSE,Active +GARD:2276,Active,Orphanet,ORPHA:2064,Disorder,[Malformation syndrome],Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,[Faulk-Epstein-Jones syndrome],A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.,[192800],,,,,Faulk Epstein Jones syndrome,TRUE,FALSE,Retired +GARD:2277,Legacy,GARD,,,,,,,,,,,,Faye-Petersen-Ward-Carey syndrome,TRUE,FALSE,Active +GARD:2279,Active,Orphanet,ORPHA:1192,Disorder,[Malformation syndrome],Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,"[Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome, Feigenbaum-Bergeron-Richardson syndrome]","A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.",[209010],,,,,Feigenbaum Bergeron Richardson syndrome,TRUE,FALSE,Active +GARD:228,Legacy,GARD,,,,,,,,,,,,Resistance to LH (luteinizing hormone),TRUE,FALSE,Retired +GARD:2280,Legacy,GARD,,,,,,,,,,,,Feigenbaum Bergeron syndrome,TRUE,FALSE,Active +GARD:2282,Legacy,GARD,,,,,,,,,,,,Feingold Trainer syndrome,TRUE,FALSE,Active +GARD:2285,Active,Orphanet,ORPHA:1986,Disorder,[Malformation syndrome],Gollop-Wolfgang complex,[Bifid femur-monodactylous ectrodactyly syndrome],"A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.",[228250],,,,,Femur bifid with monodactylous ectrodactyly,TRUE,FALSE,Active +GARD:2286,Active,Orphanet,ORPHA:2019,Disorder,[Malformation syndrome],Femur-fibula-ulna complex,"[FFU complex, Femur-fibula-ulna dysostosis, Femur-fibula-ulna syndrome, PFFD]","A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.",[228200],,,,,Femur fibula ulna syndrome,TRUE,FALSE,Active +GARD:2287,Active,Orphanet,ORPHA:1184,Disorder,[Malformation syndrome],Ataxia-photosensitivity-short stature syndrome,[Fenton-Wilkinson-Toselano syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.",,,,,,Fenton Wilkinson Toselano syndrome,TRUE,FALSE,Active +GARD:229,Active,Orphanet,ORPHA:1532,Disorder,[Malformation syndrome],Gómez-López-Hernández syndrome,"[Cerebellotrigeminal-dermal dysplasia syndrome, Craniosynostosis-alopecia-brain defect syndrome]","Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.",[601853],,,,,Gomez Lopez Hernandez syndrome,TRUE,FALSE,Active +GARD:2293,Active,Orphanet+OMIM,OMIM:300073,Subtype of disorder,[Malformation syndrome subtype],"Fetal akinesia syndrome, x-linked",,"{2:Holmes et al. (1997)} reported male sibs with a possibly X-linked form of fetal akinesia syndrome. One sib died at 11 weeks of age and other sib was stillborn. In both, the pregnancies were characterized by polyhydramnios and hypokinesia. Both had brain malformations (absence of corpus callosum in one; arhinencephaly in the other), telecanthus, and narrow palpebral fissures. (See holoprosencephaly with fetal akinesia/hypokinesia sequence ({306990}).) Only affected male sibs were described in several reports: {5:Mease et al. (1976)}, {4:MacMillan et al. (1985)}, {3:Lammer et al. (1989)}, {1:Gyr et al. (1992)}. This led {2:Holmes et al. (1997)} to suggest that there is an X-linked form of fetal akinesia syndrome(s). Also see fetal akinesia deformation sequence ({208150}).",[300073],[994],[Fetal akinesia deformation sequence],[9634],,Fetal akinesia syndrome X-linked,TRUE,FALSE,Active +GARD:2294,Active,Orphanet,ORPHA:1908,Disorder,[Malformation syndrome],Aminopterin/methotrexate embryofetopathy,"[Aminopterin embryopathy syndrome, Fetal aminopterin syndrome]","A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.",,,,,,Fetal aminopterin syndrome,TRUE,FALSE,Active +GARD:2295,Active,Orphanet,ORPHA:853,Disorder,[Disease],Fetal and neonatal alloimmune thrombocytopenia,"[FNAIT, NAIT]","A rare hematological disease characterized by maternal alloimmunisation against fetal platelet antigens that are inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopenia in otherwise healthy newborns.",,,,,,Fetal and neonatal alloimmune thrombocytopenia,TRUE,FALSE,Active +GARD:2296,Legacy,GARD,,,,,,,,,,,,Fetal antihypertensive drugs syndrome,TRUE,FALSE,Retired +GARD:2297,Legacy,GARD,,,,,,,,,,,,Fetal brain disruption sequence,TRUE,FALSE,Active +GARD:23,Active,Orphanet,ORPHA:126,Disorder,[Malformation syndrome],Blepharophimosis-ptosis-epicanthus inversus syndrome,[BPES],"A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).",[110100],,,,,Blepharophimosis-epicanthus inversus-ptosis syndrome,TRUE,FALSE,Retired +GARD:230,Active,Orphanet,ORPHA:2533,Disorder,[Malformation syndrome],Microcephaly-deafness-intellectual disability syndrome,"[Kawashima-Tsuji syndrome, Microcephaly-hearing loss-intellectual disability syndrome]","Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.",[156620],,,,,Microcephaly deafness syndrome,TRUE,FALSE,Active +GARD:2300,Legacy,GARD,,,,,,,,,,,,Fetal diethylstilbestrol syndrome,TRUE,FALSE,Retired +GARD:2301,Legacy,GARD,,,,,,,,,,,,Fetal edema,TRUE,FALSE,Retired +GARD:2302,Legacy,GARD,,,,,,,,,,,,Fetal enterovirus syndrome,TRUE,FALSE,Active +GARD:2303,Active,Orphanet,ORPHA:1909,Disorder,[Malformation syndrome],Indomethacin embryofetopathy,[Fetal indomethacin syndrome],"Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.",,,,,,Fetal indomethacin syndrome,FALSE,FALSE,Retired +GARD:2304,Active,Orphanet,ORPHA:1910,Disorder,[Malformation syndrome],Fetal iodine syndrome,,"Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).",[228355],,,,,Fetal iodine syndrome,TRUE,FALSE,Active +GARD:2305,Active,Orphanet,ORPHA:1055,Disorder,[Malformation syndrome],Congenital left ventricular aneurysm,,"A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of described aneurysms range from 0.5 cm in diameter up to a size of 8x9 cm. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death.",,,,,,Fetal left ventricular aneurysm,TRUE,FALSE,Active +GARD:2306,Legacy,GARD,,,,,,,,,,,,Fetal methimazole syndrome,FALSE,FALSE,Retired +GARD:2307,Legacy,GARD,,,,,,,,,,,,Fetal methyl mercury syndrome,FALSE,FALSE,Retired +GARD:2308,Active,Orphanet,ORPHA:1918,Disorder,[Malformation syndrome],Fetal minoxidil syndrome,[Minoxidil antenatal infection],"Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence) (see these terms), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.",,,,,,Fetal minoxidil syndrome,TRUE,FALSE,Active +GARD:2309,Legacy,GARD,,,,,,,,,,,,Fetal parainfluenza virus type 3 syndrome,TRUE,FALSE,Active +GARD:231,Active,Orphanet,ORPHA:135,Disorder,[Disease],CACH syndrome,"[Childhood ataxia with diffuse central nervous system hypomyelination, Leukoencephalopathy with vanishing white matter, Myelinosis centralis diffusa]","A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.","[603896, 615889]",,,,,Leukoencephalopathy with vanishing white matter,TRUE,FALSE,Active +GARD:2310,Legacy,GARD,,,,,,,,,,,,Fetal parvovirus syndrome,TRUE,FALSE,Active +GARD:2311,Legacy,GARD,,,,,,,,,,,,Fetal phenothiazine syndrome,TRUE,FALSE,Active +GARD:2313,Active,Orphanet,ORPHA:3312,Disorder,[Malformation syndrome],Thalidomide embryopathy,[Fetal thalidomide syndrome],"Thalidomide embryopathy is a group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.",,,,,,Fetal thalidomide syndrome,TRUE,FALSE,Active +GARD:2315,Legacy,GARD,,,,,,,,,,,,Fetal warfarin syndrome,TRUE,FALSE,Retired +GARD:2317,Active,Orphanet,ORPHA:93932,Disorder,[Disease],FG syndrome type 1,[Opitz-Kaveggia syndrome],"A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others.",[305450],,,,,FG syndrome,TRUE,FALSE,Active +GARD:232,Active,Orphanet,ORPHA:1309,Disorder,[Morphological anomaly],Medullary sponge kidney,"[Cacchi-Ricci disease, MSK, Precalicial canalicular ectasia]","A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions.",,,,,,Medullary sponge kidney,TRUE,FALSE,Active +GARD:2320,Active,Orphanet,ORPHA:335,Disorder,[Disease],Congenital fibrinogen deficiency,,Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) (see these terms) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia (see this term) corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).,"[616004, 202400]",,,,,"Fibrinogen deficiency, congenital",TRUE,FALSE,Active +GARD:2321,Active,Orphanet,ORPHA:2021,Disorder,[Disease],Fibrochondrogenesis,,"Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.","[228520, 614524]",,,,,Fibrochondrogenesis,TRUE,FALSE,Active +GARD:2322,Active,Orphanet,ORPHA:122,Disorder,[Malformation syndrome],Birt-Hogg-Dubé syndrome,"[Fibrofolliculomas with trichodiscomas and acrochordons, Hornstein-Knickenberg syndrome]","A rare inherited cancer-predisposing syndrome characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax.",[135150],,,,,Birt-Hogg-Dube syndrome,TRUE,FALSE,Active +GARD:2324,Active,Orphanet,ORPHA:2026,Disorder,[Malformation syndrome],Gingival fibromatosis-hypertrichosis syndrome,"[CGHT, Congenital generalized hypertrichosis terminalis, Hirsutism-congenital gingival hyperplasia syndrome, Hypertrichosis with or without gingival hyperplasia]","A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.",[135400],,,,,Gingival fibromatosis with hypertrichosis,TRUE,FALSE,Active +GARD:2326,Legacy,GARD,,,,,,,,,,,,Fibromuscular dysplasia,FALSE,FALSE,Active +GARD:2327,Active,Orphanet,ORPHA:2030,Disorder,[Disease],Fibrosarcoma,,,,,,,,Fibrosarcoma,TRUE,FALSE,Active +GARD:2329,Legacy,GARD,,,,,,,,,,,,Fibula aplasia complex brachydactyly,TRUE,FALSE,Retired +GARD:233,Legacy,GARD,,,,,,,,,,,,D ercole syndrome,TRUE,FALSE,Active +GARD:2331,Active,Orphanet,ORPHA:1118,Disorder,[Malformation syndrome],Fibular aplasia-ectrodactyly syndrome,,"A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.",[113310],,,,,Fibular aplasia ectrodactyly,TRUE,FALSE,Active +GARD:2333,Legacy,GARD,,,,,,,,,,,,Fibular hypoplasia scapulo pelvic dysplasia absent,TRUE,FALSE,Active +GARD:2336,Active,Orphanet,ORPHA:1658,Disorder,[Disease],Absence of fingerprints-congenital milia syndrome,"[Absence of dermatoglyphics-congenital milia syndrome, Baird syndrome, Basan-Baird syndrome]","A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.",[129200],,,,,Absence of fingerprints congenital milia,TRUE,FALSE,Active +GARD:2339,Active,Orphanet,ORPHA:85448,Disorder,[Disease],AGel amyloidosis,"[Familial amyloid polyneuropathy type IV, Familial amyloidosis, Finnish type, Gelsolin amyloidosis, Hereditary amyloidosis, Finnish type]","A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.",[105120],,,,,"Familial amyloidosis, Finnish type",TRUE,FALSE,Active +GARD:234,Active,Orphanet,ORPHA:941,Disorder,[Disease],D-glyceric aciduria,"[D-glycerate kinase deficiency, D-glyceric acidemia]","A rare inborn error of metabolism characterized by abnormal urinary excretion of D-glyceric acid due to D-glycerate kinase deficiency. Reported manifestations are highly variable and include a severe encephalopathic picture, chronic metabolic acidosis, developmental delay, intellectual disability, microcephaly, seizures, behavioral abnormalities, as well as only mild speech delay and apparently normal development.",[220120],,,,,D-glycericacidemia,TRUE,FALSE,Active +GARD:2342,Active,Orphanet,ORPHA:2820,Disorder,[Clinical syndrome],Spastic paraplegia-nephritis-deafness syndrome,"[Fitzsimmons-Walson-Mellor syndrome, Spastic paraplegia-nephritis-hearing loss syndrome]","Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.",[182690],,,,,Fitzsimmons Walson Mellor syndrome,TRUE,FALSE,Active +GARD:2343,Legacy,GARD,,,,,,,,,,,,Fitzsimmons-Guilbert syndrome,TRUE,FALSE,Active +GARD:2344,Active,Orphanet,ORPHA:2824,Disorder,[Malformation syndrome],Paraplegia-intellectual disability-hyperkeratosis syndrome,[Fitzsimmons-McLachlan-Gilbert syndrome],"A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.",[309560],,,,,Fitzsimmons syndrome,TRUE,FALSE,Active +GARD:2346,Active,Orphanet,ORPHA:2045,Disorder,[Disease],FLOTCH syndrome,[Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome],"FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.",,,,,,FLOTCH syndrome,TRUE,FALSE,Active +GARD:2347,Active,Orphanet,ORPHA:2047,Disorder,[Disease],Flynn-Aird syndrome,,"A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein.",[136300],,,,,Flynn Aird syndrome,TRUE,FALSE,Active +GARD:2349,Legacy,GARD,,,,,,,,,,,,Focal alopecia congenital megalencephaly,TRUE,FALSE,Active +GARD:2350,Legacy,GARD,,,,,,,,,,,,Focal or multifocal malformations in neuronal migration,TRUE,FALSE,Active +GARD:2351,Active,Orphanet,ORPHA:2048,Disorder,[Malformation syndrome],Foix-Chavany-Marie syndrome,"[Bilateral anterior opercular syndrome, Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation, Facio-pharyngo-glosso-masticatory diplegia]","A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.",,,,,,Foix Chavany Marie syndrome,TRUE,FALSE,Active +GARD:2354,Legacy,GARD,,,,,,,,,,,,Basaloid follicular hamartoma,TRUE,FALSE,Active +GARD:2355,Legacy,GARD,,,,,,,,,,,,"Ichthyosis, follicular",TRUE,FALSE,Active +GARD:2356,Active,Orphanet,ORPHA:545,Disorder,[Disease],Follicular lymphoma,,Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.,[613024],,,,,Follicular lymphoma,TRUE,FALSE,Active +GARD:2357,Legacy,GARD,,,,,,,,,,,,Follicular lymphoreticuloma,TRUE,FALSE,Active +GARD:2358,Legacy,GARD,,,,,,,,,,,,Fontaine Farriaux Blanckaert syndrome,TRUE,FALSE,Active +GARD:236,Active,Orphanet,ORPHA:2186,Disorder,[Malformation syndrome],Hydrocephalus-blue sclerae-nephropathy syndrome,[Daentl-Townsend-Siegel syndrome],"A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.",,,,,,Daentl Towsend Siegel syndrome,TRUE,FALSE,Active +GARD:2361,Legacy,GARD,,,,,,,,,,,,Formaldehyde poisoning,TRUE,FALSE,Active +GARD:2362,Active,Orphanet,ORPHA:3238,Disorder,[Malformation syndrome],Cardiospondylocarpofacial syndrome,"[Forney syndrome, Forney-Robinson-Pascoe syndrome, Mitral regurgitation-deafness-skeletal anomalies syndrome, Mitral regurgitation-hearing loss-skeletal anomalies syndrome]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.",[157800],,,,,"Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones",TRUE,FALSE,Active +GARD:2365,Active,Orphanet,ORPHA:2795,Disorder,[Disease],Fowler urethral sphincter dysfunction syndrome,"[Fowler syndrome, Fowler-Christmas-Chapple syndrome]","A rare urogenital disease characterized by otherwise unexplained chronic urinary retention of more than 1 liter of sterile urine on catheterization, an asensitive bladder with loss of urge to void, and no help of straining. Poor tolerance of self-catheterization is typically reported. The condition occurs in women between menarche and menopause.",,,,,,Fowler's syndrome,TRUE,FALSE,Active +GARD:2366,Legacy,GARD,,,,,,,,,,,,Fragile X syndrome type 1,TRUE,FALSE,Active +GARD:2367,Legacy,GARD,,,,,,,,,,,,Fragile X syndrome type 2,TRUE,FALSE,Active +GARD:2368,Legacy,GARD,,,,,,,,,,,,Fragile X syndrome type 3,TRUE,FALSE,Active +GARD:237,Active,Orphanet,ORPHA:1563,Disorder,[Malformation syndrome],Dahlberg-Borer-Newcomer syndrome,"[Dahlberg syndrome, Lymphedema-hypoparathyroidism syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. There have been no further descriptions in the literature since 1993.",[247410],,,,,Dahlberg Borer Newcomer syndrome,TRUE,FALSE,Active +GARD:2371,Legacy,GARD,,,,,,,,,,,,Franceschini Vardeu Guala syndrome,TRUE,FALSE,Active +GARD:2372,Legacy,GARD,,,,,,,,,,,,Franek Bocker kahlen syndrome,TRUE,FALSE,Retired +GARD:2373,Legacy,GARD,,,,,,,,,,,,Fraser Jequier Chen syndrome,TRUE,FALSE,Active +GARD:2374,Legacy,GARD,,,,,,,,,,,,Fraser like syndrome,TRUE,FALSE,Retired +GARD:2375,Active,Orphanet,ORPHA:347,Disorder,[Disease],Frasier syndrome,,"A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma.",[136680],,,,,Frasier syndrome,TRUE,FALSE,Active +GARD:2377,Legacy,GARD,,,,,,,,,,,,FRAXD,TRUE,FALSE,Active +GARD:2378,Active,Orphanet,ORPHA:100973,Disorder,[Disease],FRAXE intellectual disability,[Intellectual disability associated with fragile site FRAXE],"A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.",[309548],,,,,Fragile XE syndrome,TRUE,FALSE,Active +GARD:238,Active,Orphanet,ORPHA:2724,Disorder,[Malformation syndrome],Odontomatosis-aortae esophagus stenosis syndrome,[Boder syndrome],"Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.",[164330],,,,,Odontoma dysphagia syndrome,TRUE,FALSE,Active +GARD:2380,Active,Orphanet,ORPHA:564003,Disorder,[Disease],Osteochondrosis of the metatarsal bone,"[Avascular necrosis of the metatarsal bone, Freiberg disease, Freiberg infraction]","A rare bone disease characterized by avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal. Patients may present with pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. The condition can be bilateral in some cases and shows a significant predilection for females in the second or third decade of life.",,,,,,Freiberg's disease,TRUE,FALSE,Active +GARD:2381,Active,Orphanet,ORPHA:2723,Disorder,[Malformation syndrome],Odontotrichomelic syndrome,[Freire-Maia syndrome],"A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970.",[273400],,,,,Odontotrichomelic syndrome,TRUE,FALSE,Active +GARD:2383,Legacy,GARD,,,,,,,,,,,,Frenkel Russe syndrome,TRUE,FALSE,Active +GARD:2384,Active,Orphanet,ORPHA:264200,Disorder,[Malformation syndrome],14q22q23 microdeletion syndrome,"[14q22-q23 microdeletion syndrome, Del(14)(q22q23), Monosomy 14q22-q23, Monosomy 14q22q23]","14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.",[609640],,,,,Frias syndrome,TRUE,FALSE,Active +GARD:2386,Legacy,GARD,,,,,,,,,,,,Friedel Heid Grosshans syndrome,TRUE,FALSE,Retired +GARD:2387,Legacy,GARD,,,,,,,,,,,,Friedman Goodman syndrome,TRUE,FALSE,Retired +GARD:2388,Legacy,GARD,,,,,,,,,,,,Friedreich ataxia congenital glaucoma,TRUE,FALSE,Retired +GARD:2389,Legacy,GARD,,,,,,,,,,,,Fronto nasal malformation cloacal exstrophy,TRUE,FALSE,Active +GARD:239,Active,Orphanet,ORPHA:3132,Disorder,[Malformation syndrome],Say-Barber-Miller syndrome,[Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome],"Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.",[251240],,,,,Say Barber Miller syndrome,TRUE,FALSE,Active +GARD:2390,Active,Orphanet,ORPHA:1791,Disorder,[Malformation syndrome],Frontofacionasal dysplasia,[Gollop syndrome],"A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).",[229400],,,,,Frontofacionasal dysplasia,TRUE,FALSE,Active +GARD:2392,Active,Orphanet,ORPHA:250,Group of disorders,[Clinical group],Frontonasal dysplasia,[Median cleft face syndrome],"A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.",,,,,,Frontonasal dysplasia,TRUE,FALSE,Active +GARD:2393,Legacy,GARD,,,,,,,,,,,,Frontonasal dysplasia acromelic,TRUE,FALSE,Active +GARD:2394,Legacy,GARD,,,,,,,,,,,,Frontonasal dysplasia Klippel Feil syndrome,TRUE,FALSE,Active +GARD:2395,Legacy,GARD,,,,,,,,,,,,Frontonasal dysplasia phocomelic upper limbs,TRUE,FALSE,Active +GARD:2397,Active,Orphanet,ORPHA:2141,Disorder,[Malformation syndrome],Diaphragmatic defect-limb deficiency-skull defect syndrome,[Froster-Huch syndrome],"Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.",[601163],,,,,Froster-Huch syndrome,TRUE,FALSE,Active +GARD:2399,Legacy,GARD,,,,,,,,,,,,Acquired fructose intolerance,FALSE,FALSE,Retired +GARD:240,Legacy,GARD,,,,,,,,,,,,Say Carpenter syndrome,TRUE,FALSE,Active +GARD:2400,Active,Orphanet,ORPHA:348,Disorder,[Disease],"Fructose-1,6-bisphosphatase deficiency","[FBPase deficiency, Fructose-1,6-diphosphatase deficiency]","Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.",[229700],,,,,"Fructose-1,6-bisphosphatase deficiency",TRUE,FALSE,Active +GARD:2407,Legacy,GARD,,,,,,,,,,,,Fryns Fabry Remans syndrome,TRUE,FALSE,Active +GARD:2408,Active,Orphanet,ORPHA:2497,Disorder,[Malformation syndrome],Upper limb mesomelic dysplasia,"[Fryns-Hofkens-Fabry syndrome, Ulna hypoplasia]","This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.",[191440],,,,,Fryns Hofkens Fabry syndrome,TRUE,FALSE,Active +GARD:2409,Active,Orphanet,ORPHA:2058,Disorder,[Malformation syndrome],Fryns-Smeets-Thiry syndrome,,"A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and sever intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further description in the literature since 1994.",,,,,,Fryns smeets thiry syndrome,TRUE,FALSE,Active +GARD:241,Active,Orphanet,ORPHA:1003,Disorder,[Malformation syndrome],Scalp defects-postaxial polydactyly syndrome,,"A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985.",[181250],,,,,Scalp defects postaxial polydactyly,TRUE,FALSE,Active +GARD:2410,Active,Orphanet,ORPHA:2854,Disorder,[Malformation syndrome],Fuhrmann syndrome,"[Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome, Fuhrmann-Rieger-de Sousa syndrome]","Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.",[228930],,,,,Fuhrmann syndrome,TRUE,FALSE,Active +GARD:2411,Legacy,GARD,,,,,,,,,,,,Fukuda Miyanomae Nakata syndrome,TRUE,FALSE,Active +GARD:2414,Legacy,GARD,,,,,,,,,,,,Functioning pancreatic endocrine tumor,TRUE,FALSE,Active +GARD:2415,Legacy,GARD,,,,,,,,,,,,Fuqua Berkovitz syndrome,TRUE,FALSE,Active +GARD:2417,Active,Orphanet,ORPHA:2579,Disorder,[Disease],Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,[Furukawa-Takagi-Nakao syndrome],"A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.",[158500],,,,,Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus,TRUE,FALSE,Active +GARD:2418,Active,Orphanet,ORPHA:591,Disorder,[Disease],Furuncular myiasis,"[Furunculoid myiasis, Furunculous myiasis]",Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).,,,,,,Furunculous myiasis,TRUE,FALSE,Active +GARD:2419,Active,Orphanet,ORPHA:2287,Disorder,[Morphological anomaly],Fused mandibular incisors,,"Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure.",[147251],,,,,Fused mandibular incisors,TRUE,FALSE,Active +GARD:242,Legacy,GARD,,,,,,,,,,,,Say-Field-Coldwell syndrome,TRUE,FALSE,Active +GARD:2422,Active,Orphanet,ORPHA:79237,Disorder,[Disease],Galactokinase deficiency,"[GALK deficiency, GALK-D, Galactokinase deficiency galactosemia, Galactosemia type 2]","A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.",[230200],,,,,Galactokinase deficiency,TRUE,FALSE,Active +GARD:2424,Active,Orphanet,ORPHA:352,Group of disorders,[Category],Galactosemia,,"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms).","[230200, 230400, 230350]",,,,,Galactosemia,TRUE,FALSE,Active +GARD:2427,Active,Orphanet,ORPHA:3035,Disorder,[Malformation syndrome],Growth delay-hydrocephaly-lung hypoplasia syndrome,[Game-Friedman-Paradice syndrome],"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.",[236640],,,,,Game Friedman Paradice syndrome,TRUE,FALSE,Active +GARD:2428,Active,Orphanet,ORPHA:212,Disorder,[Disease],Cystathioninuria,"[Cystathionase deficiency, Cystathionine gamma-lyase deficiency syndrome, Gamma-cystathionase deficiency]",A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.,[219500],,,,,Gamma-cystathionase deficiency,TRUE,FALSE,Active +GARD:2429,Active,Orphanet,ORPHA:353,Disorder,[Disease],Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5,"[Autosomal recessive limb-girdle muscular dystrophy type 2C, Gamma-sarcoglycan-related LGMD R5, Gamma-sarcoglycanopathy, LGMD due to gamma-sarcoglycan deficiency, LGMD type 2C, LGMD2C, Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency, Limb-girdle muscular dystrophy type 2C]","A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.",[253700],,,,,"Limb-girdle muscular dystrophy, type 2C",TRUE,FALSE,Active +GARD:243,Active,Orphanet,ORPHA:3369,Disorder,[Malformation syndrome],Trigonocephaly-short stature-developmental delay syndrome,[Say-Meyer syndrome],"A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures.",[314320],,,,,Say Meyer syndrome,TRUE,FALSE,Active +GARD:2430,Active,Orphanet,ORPHA:251949,Disorder,[Disease],Ganglioglioma,,"Ganglioglioma is a rare, usually benign, well-circumscribed, often cystic, mixed neuronal-glial tumor (composed of both neoplastic glial and ganglionic elements) which is typically located in the temporal lobe and rarely invades the surrounding tissue. Patients usually present with seizures refractory to medical treatment. Association with neurofibromatosis type I and tuberous sclerosis has been reported.",,,,,,Ganglioglioma,TRUE,FALSE,Active +GARD:2431,Active,Orphanet,ORPHA:79257,Subtype of disorder,[Clinical subtype],GM1 gangliosidosis type 3,[Adult-onset GM1 gangliosidosis],"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.",[230650],,,,,GM1 gangliosidosis type 3,TRUE,FALSE,Active +GARD:2432,Active,Orphanet,ORPHA:1018,Subtype of disorder,[Clinical subtype],X-linked Alport syndrome-diffuse leiomyomatosis,[Xq22.3 microdeletion syndrome],"A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.","[150700, 308940]",,,,,"Leiomyomatosis, esophageal and vulval, with nephropathy",TRUE,FALSE,Active +GARD:2433,Legacy,GARD,,,,,,,,,,,,Gardner Morrison Abbot syndrome,TRUE,FALSE,Retired +GARD:2435,Legacy,GARD,,,,,,,,,,,,Garret Tripp syndrome,TRUE,FALSE,Active +GARD:2436,Active,Orphanet,ORPHA:2494,Disorder,[Disease],Ménétrier disease,"[Giant hypertrophic gastritis, Hypoproteinemic hypertrophic gastropathy]","Ménétrier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.",[137280],,,,,Menetrier disease,TRUE,FALSE,Active +GARD:2437,Active,Orphanet,ORPHA:100092,Group of disorders,[Category],Gastroenteropancreatic neuroendocrine neoplasm,[GEP-NEN],,,,,,,Gastro-enteropancreatic neuroendocrine tumor,TRUE,FALSE,Active +GARD:2438,Active,Orphanet,ORPHA:2069,Disorder,[Disease],Gastrocutaneous syndrome,,"A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.",[137270],,,,,Gastrocutaneous syndrome,TRUE,FALSE,Active +GARD:2441,Active,Orphanet,ORPHA:77259,Subtype of disorder,[Clinical subtype],Gaucher disease type 1,[Non-cerebral juvenile Gaucher disease],"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.",[230800],,,,,Gaucher disease type 1,TRUE,FALSE,Active +GARD:2442,Active,Orphanet,ORPHA:77260,Subtype of disorder,[Clinical subtype],Gaucher disease type 2,"[Acute neuronopathic Gaucher disease, Infantile cerebral Gaucher disease]","Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.",[230900],,,,,Gaucher disease type 2,TRUE,FALSE,Active +GARD:2443,Active,Orphanet,ORPHA:77261,Subtype of disorder,[Clinical subtype],Gaucher disease type 3,"[Cerebral juvenile and adult form of Gaucher disease, Chronic neuronopathic Gaucher disease, Gaucher disease, subacute neuronopathic type]","Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).",[231000],,,,,Gaucher disease type 3,TRUE,FALSE,Active +GARD:2444,Legacy,GARD,,,,,,,,,,,,Gaucher ichthyosis restrictive dermopathy,TRUE,FALSE,Active +GARD:2445,Legacy,GARD,,,,,,,,,,,,Gaucher-like disease,TRUE,FALSE,Retired +GARD:2446,Legacy,GARD,,,,,,,,,,,,Gay Feinmesser Cohen syndrome,TRUE,FALSE,Active +GARD:2447,Legacy,GARD,,,,,,,,,,,,Green Sandford Davison syndrome,TRUE,FALSE,Active +GARD:2448,Legacy,GARD,,,,,,,,,,,,Gelatinous ascites,TRUE,FALSE,Retired +GARD:2449,Active,Orphanet,ORPHA:2623,Disorder,[Malformation syndrome],Geleophysic dysplasia,[Geleophysic dwarfism],"A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').","[614185, 231050, 617809]",,,,,Geleophysic dwarfism,TRUE,FALSE,Active +GARD:2451,Active,Orphanet,ORPHA:2074,Disorder,[Malformation syndrome],Gemignani syndrome,"[Spinocerebellar ataxia-amyotrophy-deafness syndrome, Spinocerebellar ataxia-amyotrophy-hearing loss syndrome]","Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.",,,,,,Gemignani syndrome,TRUE,FALSE,Active +GARD:2452,Active,Orphanet,ORPHA:2084,Disorder,[Malformation syndrome],Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,[GEMSS syndrome],"Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).",[608328],,,,,"Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome",TRUE,FALSE,Active +GARD:2454,Active,Orphanet,ORPHA:2163,Disorder,[Malformation syndrome],Holoprosencephaly-craniosynostosis syndrome,"[Camero-Lituania-Cohen syndrome, Genoa syndrome]","Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.",[601370],,,,,Genoa syndrome,TRUE,FALSE,Active +GARD:2455,Legacy,GARD,,,,,,,,,,,,Genetic reflex epilepsy,TRUE,FALSE,Active +GARD:2456,Active,Orphanet+OMIM,OMIM:607948,Subtype of disorder,[Disease subtype],"Mycobacterium tuberculosis, susceptibility to",,"Mycobacterium tuberculosis latently infects approximately one-third of humanity and is comparable only to human immunodeficiency virus (HIV; see {609423}) as a leading infectious cause of mortality worldwide. Obstacles for controlling TB infection include lengthy treatment regimens of 6 to 9 months, drug resistance, lack of a highly efficacious vaccine, and incomplete understanding of the factors that control infectivity and disease progression. Although only 10% of individuals infected with M. tuberculosis develop active disease, the immune responses associated with TB susceptibility or resistance are not known. In addition, it is not known why some individuals have disseminated TB that spreads to the meninges and central nervous system, while most people have localized disease in the lungs. A number of studies suggest that host genetic factors influence susceptibility and resistance to TB (review by {9:Berrington and Hawn, 2007}).",[607948],[3389],[Tuberculosis],[7827],,"Mycobacterium tuberculosis, susceptibility to infection by",TRUE,FALSE,Retired +GARD:2458,Legacy,GARD,,,,,,,,,,,,Genital dwarfism,TRUE,FALSE,Active +GARD:2459,Legacy,GARD,,,,,,,,,,,,"Genital dwarfism, Turner type",TRUE,FALSE,Active +GARD:246,Active,Orphanet,ORPHA:63862,Disorder,[Malformation syndrome],Schisis association,,"Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These anomalies are associated at a higher frequency than would be expected with random combination rates.",,,,,,Schisis association,TRUE,FALSE,Active +GARD:2460,Active,Orphanet,ORPHA:2075,Disorder,[Malformation syndrome],Genitopalatocardiac syndrome,[Gardner-Silengo-Wachtel syndrome],"Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.",[231060],,,,,Genito palato cardiac syndrome,TRUE,FALSE,Active +GARD:2462,Active,Orphanet,ORPHA:2077,Disorder,[Malformation syndrome],German syndrome,[Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome],"German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.",[231080],,,,,German syndrome,TRUE,FALSE,Retired +GARD:2464,Legacy,GARD,,,,,,,,,,,,Gershinibaruch Leibo syndrome,TRUE,FALSE,Active +GARD:2467,Legacy,GARD,,,,,,,,,,,,Ghose Sachdev Kumar syndrome,TRUE,FALSE,Active +GARD:2468,Legacy,GARD,,,,,,,,,,,,Giant ganglionic hyperplasia,TRUE,FALSE,Retired +GARD:2469,Active,Orphanet,ORPHA:626,Disorder,[Disease],Large congenital melanocytic nevus,"[Congenital pigmented nevus, GMN, Giant congenital melanocytic nevus, Giant pigmented hairy nevus, LCMN]","A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.",[137550],,,,,Giant congenital nevus,TRUE,FALSE,Active +GARD:247,Active,Orphanet,ORPHA:3134,Disorder,[Malformation syndrome],SCARF syndrome,,"A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and anbnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptsosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on.",[312830],,,,,SCARF syndrome,TRUE,FALSE,Active +GARD:2470,Active,Orphanet,ORPHA:274,Disorder,[Disease],Bernard-Soulier syndrome,"[Giant platelet syndrome, Hemorrhagiparous thrombocytic dystrophy]","A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.","[153670, 231200]",,,,,Giant platelet syndrome,TRUE,FALSE,Active +GARD:2471,Legacy,GARD,,,,,,,,,,,,Gigantism advanced bone age hoarse cry,TRUE,FALSE,Active +GARD:2474,Active,Orphanet+OMIM,OMIM:605544,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 2",,"Hereditary gingival fibromatosis is a benign disorder manifested by a slowly progressive enlargement of the oral gingival tissues (summary by {1:Xiao et al., 2001}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF ({135300}).",[605544],[2024],[Hereditary gingival fibromatosis],[16582],,"Gingival fibromatosis, 2",TRUE,FALSE,Active +GARD:2475,Active,Orphanet+OMIM,OMIM:611010,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 4",,"Hereditary gingival fibromatosis is a benign disorder manifested by a slowly progressive overgrowth of the oral gingival tissues, which results in the teeth being partially or totally engulfed by keratinized gingiva (summary by {1:Zhu et al., 2007}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF1 ({135300}).",[611010],[2024],[Hereditary gingival fibromatosis],[16582],,"Gingival fibromatosis, 4",TRUE,FALSE,Active +GARD:2478,Active,Orphanet,ORPHA:849,Disorder,[Disease],Glanzmann thrombasthenia,,Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.,"[619267, 273800]",,,,,Glanzmann thrombasthenia,TRUE,FALSE,Active +GARD:2479,Legacy,GARD,,,,,,,,,,,,Glass-Chapman-Hockley syndrome,TRUE,FALSE,Retired +GARD:248,Active,Orphanet,ORPHA:1383,Disorder,[Malformation syndrome],Cataract-deafness-hypogonadism syndrome,"[Cataract-hearing loss-hypogonadism syndrome, Schaap-Taylor-Baraitser syndrome]","Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.",,,,,,Schaap Taylor Baraitser syndrome,TRUE,FALSE,Active +GARD:2482,Legacy,GARD,,,,,,,,,,,,Glaucoma iridogoniodysgenesia,TRUE,FALSE,Active +GARD:2483,Active,Orphanet,ORPHA:2085,Disorder,[Disease],Glaucoma-sleep apnea syndrome,,Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).,[137763],,,,,Glaucoma sleep apnea,TRUE,FALSE,Active +GARD:2484,Legacy,GARD,,,,,,,,,,,,Glaucoma type 1C,TRUE,FALSE,Active +GARD:2485,Active,Orphanet,ORPHA:98976,Disorder,[Disease],Congenital glaucoma,"[Buphthalmia, Buphthalmos, Buphthalmus, Primary congenital glaucoma]","A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema.","[613085, 613086, 231300, 600975, 617272]",,,,,"Glaucoma, congenital",TRUE,FALSE,Active +GARD:2486,Active,Orphanet,ORPHA:359,Group of disorders,[Category],Pediatric-onset glaucoma of genetic origin,[Hereditary glaucoma],"A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.",,,,,,"Glaucoma, hereditary",TRUE,FALSE,Active +GARD:2487,Legacy,GARD,,,,,,,,,,,,"Glaucoma, hereditary adult type 1A",TRUE,FALSE,Active +GARD:2488,Legacy,GARD,,,,,,,,,,,,"Glaucoma, hereditary juvenile type 1B",TRUE,FALSE,Active +GARD:2489,Legacy,GARD,,,,,,,,,,,,"Glaucoma, primary infantile type 3A",TRUE,FALSE,Active +GARD:249,Active,Orphanet+OMIM,OMIM:122860,Subtype of disorder,[Malformation syndrome subtype],"Craniodiaphyseal dysplasia, autosomal dominant",,"Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by {2:Brueton and Winter, 1990}). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by {4:Kim et al., 2011}).",[122860],[1513],[Craniodiaphyseal dysplasia],[1567],,Schaefer Stein Oshman syndrome,TRUE,FALSE,Active +GARD:2490,Active,Orphanet+OMIM,OMIM:600975,Subtype of disorder,[Disease subtype],"Glaucoma 3, primary infantile, b",,"For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A ({231300}).",[600975],[98976],[Congenital glaucoma],[2485],,Glaucoma 3 primary infantile B,TRUE,FALSE,Active +GARD:2491,Active,Orphanet,ORPHA:360,Disorder,[Disease],Glioblastoma,"[GBM, Glioblastoma multiforme]",Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).,"[137800, 613029]",,,,,Glioblastoma,TRUE,FALSE,Active +GARD:2492,Active,Orphanet+OMIM,OMIM:137940,Subtype of disorder,[Disease subtype],Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,"[telangiectatic membranoproliferative glomerulonephritis, Glomerulonephritis with sparse hair and telangiectases]","Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by {3:Moalem et al., 2015}).",[137940],[69735],[Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome],[12827],,Glomerulonephritis with sparse hair and telangiectases,TRUE,FALSE,Active +GARD:2495,Legacy,GARD,,,,,,,,,,,,Glossopalatine ankylosis micrognathia ear anomalies,TRUE,FALSE,Active +GARD:2496,Active,Orphanet,ORPHA:97280,Disorder,[Disease],Glucagonoma,[Glucagonoma syndrome],"Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.",,,,,,Glucagonoma,TRUE,FALSE,Active +GARD:2498,Active,Orphanet,ORPHA:361,Disorder,[Disease],Familial glucocorticoid deficiency,,"Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.","[609197, 617825, 614736, 607398, 202355, 202200]",,,,,Familial glucocorticoid deficiency,TRUE,FALSE,Active +GARD:2499,Active,Orphanet,ORPHA:786,Disorder,[Disease],Generalized glucocorticoid resistance syndrome,,"A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men.",[615962],,,,,Glucocorticoid resistance,TRUE,FALSE,Active +GARD:250,Active,Orphanet,ORPHA:800,Disorder,[Disease],Schwartz-Jampel syndrome,"[Aberfeld syndrome, Burton skeletal dysplasia, Burton syndrome, Catel-Hempel syndrome, Dysostosis enchondralis metaepiphysaria, Catel-Hempel type, Myotonic chondrodystrophy, Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, Osteochondromuscular dystrophy, SJS, SJS1, Schwartz-Jampel syndrome type 1, Schwartz-Jampel-Aberfeld syndrome]","A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).",[255800],,,,,Schwartz Jampel syndrome,TRUE,FALSE,Active +GARD:2501,Legacy,GARD,,,,,,,,,,,,Glucose-6-phosphate translocase deficiency,TRUE,FALSE,Active +GARD:2502,Legacy,GARD,,,,,,,,,,,,Glucosephosphate isomerase deficiency,TRUE,FALSE,Active +GARD:2503,Legacy,GARD,,,,,,,,,,,,"Glucosidase acid-1,4-alpha deficiency",TRUE,FALSE,Active +GARD:2505,Legacy,GARD,,,,,,,,,,,,Glutamate decarboxylase deficiency,TRUE,FALSE,Active +GARD:251,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease with ptosis and parkinsonism,TRUE,FALSE,Retired +GARD:2510,Legacy,GARD,,,,,,,,,,,,Glyceraldehyde-3-phosphate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:2513,Active,Orphanet,ORPHA:2089,Disorder,[Disease],Glycogen storage disease due to hepatic glycogen synthase deficiency,"[GSD due to hepatic glycogen synthase deficiency, GSD type 0a, Glycogen storage disease due to liver glycogen synthase deficiency, Glycogen storage disease type 0a, Glycogenosis type 0a]","A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.",[240600],,,,,"Glycogen storage disease type 0, liver",TRUE,FALSE,Active +GARD:2515,Active,Orphanet,ORPHA:79259,Subtype of disorder,[Clinical subtype],Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,"[G6P deficiency type Ib, G6P translocase deficiency, G6PT deficiency, GSD due to G6P deficiency type 1b, GSD due to G6P deficiency type Ib, GSD due to G6PT deficiency, GSD type 1 non a, GSD type 1b, GSD type Ib, GSDIb, Glycogen storage disease due to G6P deficiency type Ib, Glycogen storage disease type 1b, Glycogen storage disease type Ib, Glycogenosis due to glucose-6-phosphatase deficiency type 1b, Glycogenosis due to glucose-6-phosphatase transport defect type Ib, Glycogenosis type 1b, Glycogenosis type Ib]","Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).","[232240, 232220]",,,,,Glycogen storage disease type 1B,TRUE,FALSE,Active +GARD:2519,Legacy,GARD,,,,,,,,,,,,"Glycogen storage disease type 6, due to phosphorylation",TRUE,FALSE,Retired +GARD:2520,Active,Orphanet,ORPHA:367,Disorder,[Disease],Glycogen storage disease due to glycogen branching enzyme deficiency,"[Amylopectinosis, Andersen disease, GSD due to glycogen branching enzyme deficiency, GSD type 4, GSD type IV, Glycogen storage disease type 4, Glycogen storage disease type IV, Glycogenosis due to glycogen branching enzyme deficiency, Glycogenosis type 4, Glycogenosis type IV]","Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms).","[232500, 263570]",,,,,Glycogen storage disease type 4,TRUE,FALSE,Active +GARD:2521,Active,Orphanet,ORPHA:796,Disorder,[Disease],Sandhoff disease,"[GM2 gangliosidosis 0 variant, Hexosaminidases A and B deficiency]",Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.,[268800],,,,,"GM2 gangliosidosis, 0 variant",TRUE,FALSE,Active +GARD:2522,Legacy,GARD,,,,,,,,,,,,"GM2-gangliosidosis, B, B1, AB variant",TRUE,FALSE,Active +GARD:2523,Active,Orphanet,ORPHA:2090,Disorder,[Malformation syndrome],GMS syndrome,[Goniodysgenesis-intellectual disability-short stature syndrome],"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.",[138770],,,,,GMS syndrome,TRUE,FALSE,Active +GARD:253,Legacy,GARD,,,,,,,,,,,,Schwartz Cohen-Addad Lambert syndrome,TRUE,FALSE,Active +GARD:2532,Legacy,GARD,,,,,,,,,,,,"Trichomegaly, cataract, and hereditary spherocytosis",TRUE,FALSE,Retired +GARD:2533,Legacy,GARD,,,,,,,,,,,,Gollop Coates syndrome,TRUE,FALSE,Active +GARD:2537,Legacy,GARD,,,,,,,,,,,,GOMBO syndrome,TRUE,FALSE,Active +GARD:2538,Legacy,GARD,,,,,,,,,,,,Gonadal dysgenesis,TRUE,FALSE,Active +GARD:2539,Legacy,GARD,,,,,,,,,,,,Gonadal dysgenesis mixed,TRUE,FALSE,Active +GARD:254,Legacy,GARD,,,,,,,,,,,,Schroer Hammer Mauldin syndrome,TRUE,FALSE,Retired +GARD:2540,Legacy,GARD,,,,,,,,,,,,Gonadal dysgenesis Turner type,TRUE,FALSE,Active +GARD:2541,Active,Orphanet,ORPHA:1770,Disorder,[Malformation syndrome],XY type gonadal dysgenesis-associated anomalies syndrome,,"A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980.",[233430],,,,,Gonadal dysgenesis XY type associated anomalies,TRUE,FALSE,Active +GARD:2542,Active,Orphanet,ORPHA:2855,Disorder,[Disease],Perrault syndrome,"[XX gonodal dysgenesis-deafness syndrome, XX gonodal dysgenesis-hearing loss syndrome]","Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.","[233400, 616138, 614926, 615300, 617565, 614129]",,,,,Perrault syndrome,TRUE,FALSE,Active +GARD:2545,Legacy,GARD,,,,,,,,,,,,Goniodysgenesis mental retardation short stature,TRUE,FALSE,Retired +GARD:2546,Active,Orphanet,ORPHA:1482,Disorder,[Disease],Gonococcal conjunctivitis,,"A rare disorder of the anterior segment of the eye caused by Neisseria gonorrhoeae, characterized by a severe mucopurulent conjunctivitis associated with lid edema, often also with localized lymphadenopathy. It may be complicated by uveitis or keratitis which can eventually lead to corneal perforation. The disease most often occurs in teenagers and young adults with a male predominance, while infections are much less common in newborns, where they are typically bilateral.",,,,,,Gonococcal conjunctivitis,TRUE,FALSE,Active +GARD:2549,Active,Orphanet,ORPHA:65798,Disorder,[Malformation syndrome],Goodman syndrome,"[ACPS4, Acrocephalopolysyndactyly type 4]","A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disability. There have been no further descriptions in the literature since 1992.",[201020],,,,,Goodman syndrome,TRUE,FALSE,Retired +GARD:255,Legacy,GARD,,,,,,,,,,,,Schlegelberger Grote syndrome,TRUE,FALSE,Active +GARD:2551,Active,Orphanet,ORPHA:375,Disorder,[Disease],Anti-glomerular basement membrane disease,"[Anti-GBM syndrome, Goodpasture syndrome]","A rare, fulminant small vessel vasculitis that affects the capillary beds of the kidneys and lungs and characterized by the presence of anti-glomerular basement membrane (GBM) and, in its full-blown form, anti-alveolar basement membrane (ABM) antibodies. Consequently, it may manifest as a rapidly progressive, isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage.",[233450],,,,,Goodpasture syndrome,TRUE,FALSE,Active +GARD:2553,Active,Orphanet,ORPHA:376,Disorder,[Malformation syndrome],Gordon syndrome,"[Camptodactyly-cleft palate-clubfoot syndrome, Distal arthrogryposis type 3, Distal arthrogryposis type IIA]","Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.",[114300],,,,,Gordon syndrome,TRUE,FALSE,Active +GARD:2555,Legacy,GARD,,,,,,,,,,,,Gorlin Bushkell Jensen syndrome,TRUE,FALSE,Retired +GARD:2557,Active,Orphanet,ORPHA:2111,Disorder,[Disease],Cystic hamartoma of lung and kidney,[Graham-Boyle-Troxell syndrome],"Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.",,,,,,Graham Boyle Troxell syndrome,TRUE,FALSE,Active +GARD:2558,Legacy,GARD,,,,,,,,,,,,Grand Kaine Fulling syndrome,TRUE,FALSE,Retired +GARD:2559,Active,Orphanet,ORPHA:2097,Disorder,[Malformation syndrome],Grant syndrome,,"Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.",[138930],,,,,Grant syndrome,TRUE,FALSE,Active +GARD:256,Legacy,GARD,,,,,,,,,,,,Schrander-Stumpel Theunissen Hulsmans syndrome,TRUE,FALSE,Active +GARD:2562,Active,Orphanet,ORPHA:721,Disorder,[Disease],Gray platelet syndrome,"[Alpha storage pool deficiency, GPS, Platelet alpha-granule deficiency]","Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.","[187900, 139090]",,,,,Gray platelet syndrome,TRUE,FALSE,Active +GARD:2566,Active,Orphanet,ORPHA:79476,Subtype of disorder,[Clinical subtype],Griscelli syndrome type 1,"[Griscelli-Pruniéras syndrome type 1, Hypopigmentation-neurologic impairment syndrome]",,[214450],,,,,Griscelli syndrome type 1,TRUE,FALSE,Active +GARD:2567,Legacy,GARD,,,,,,,,,,,,Grix Blankenship Peterson syndrome,TRUE,FALSE,Active +GARD:2568,Active,Orphanet,ORPHA:3217,Disorder,[Disease],Deafness-small bowel diverticulosis-neuropathy syndrome,"[Groll-Hirschowitz syndrome, Hearing loss-small bowel diverticulosis-neuropathy syndrome]","A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.",[221400],,,,,Groll Hirschowitz syndrome,TRUE,FALSE,Active +GARD:257,Active,Orphanet,ORPHA:3041,Disorder,[Malformation syndrome],Intellectual disability-balding-patella luxation-acromicria syndrome,[Scholte-Begeer-van Essen syndrome],"Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.",[300977],,,,,Scholte syndrome,TRUE,FALSE,Active +GARD:2570,Legacy,GARD,,,,,,,,,,,,Growth deficiency brachydactyly unusual facies,TRUE,FALSE,Retired +GARD:2572,Active,Orphanet,ORPHA:2588,Disorder,[Malformation syndrome],Myhre syndrome,"[Facial dysmorphism-intellectual disability-short stature-deafness syndrome, Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome]","A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common.",[139210],,,,,Myhre syndrome,TRUE,FALSE,Active +GARD:2573,Legacy,GARD,,,,,,,,,,,,Growth retardation alopecia pseudoanodontia optic,TRUE,FALSE,Retired +GARD:2574,Legacy,GARD,,,,,,,,,,,,Growth retardation hydrocephaly lung hypoplasia,TRUE,FALSE,Active +GARD:2575,Legacy,GARD,,,,,,,,,,,,Growth retardation mental retardation phalangeal hypoplasia,TRUE,FALSE,Retired +GARD:2576,Active,Orphanet,ORPHA:2101,Disorder,[Malformation syndrome],Grubben-de Cock-Borghgraef syndrome,[Developmental delay-hypotonia-extremities hypertrophy syndrome],"Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.",[233810],,,,,Grubben de Cock Borghgraef syndrome,TRUE,FALSE,Active +GARD:2578,Active,Orphanet,ORPHA:382,Disorder,[Disease],Guanidinoacetate methyltransferase deficiency,[GAMT deficiency],"Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.",[612736],,,,,Guanidinoacetate methyltransferase deficiency,TRUE,FALSE,Active +GARD:2579,Active,Orphanet+OMIM,OMIM:259700,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 1","[marble bones, autosomal recessive, Osteopetrosis, infantile malignant 1, albers-schonberg disease, autosomal recessive]","Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by {1:Aker et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Osteopetrosis\n\nOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 ({611490}), which is caused by mutation in the CLCN7 gene ({602727}) on chromosome 16p13, and OPTB5 ({259720}), which is caused by mutation in the OSTM1 gene ({607649}) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; {259710}) is caused by mutation in the TNFSF11 gene ({602642}) on chromosome 13q14, an intermediate form (OPTB6; {611497}) is caused by mutation in the PLEKHM1 gene ({611466}) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7; {612301}) is caused by mutation in the TNFRSF11A gene ({603499}) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8; {615085}) is caused by mutation in the SNX10 gene ({614780}) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; {259730}) is caused by mutation in the CA2 gene ({611492}) on chromosome 8q21.\n\nAutosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).",[259700],[667],[Autosomal recessive malignant osteopetrosis],[15012],,Osteopetrosis autosomal recessive 1,TRUE,FALSE,Active +GARD:258,Active,Orphanet,ORPHA:2252,Disorder,[Malformation syndrome],Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,[Schmitt-Gillenwater-Kelly syndrome],"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.",[179250],,,,,Schmitt Gillenwater Kelly syndrome,TRUE,FALSE,Retired +GARD:2580,Active,Orphanet,ORPHA:1661,Disorder,[Disease],X-linked corneal dermoid,"[Corneal dystrophy epithelial-short stature syndrome, Guízar Vázquez-Luengas-Muñoz syndrome]","X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.",[304730],,,,,Dermoids of cornea,TRUE,FALSE,Active +GARD:2582,Legacy,GARD,,,,,,,,,,,,Hair defect-photosensitivity-intellectual disability syndrome,TRUE,FALSE,Active +GARD:2586,Active,Orphanet,ORPHA:2107,Disorder,[Malformation syndrome],Hall-Riggs syndrome,,"Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.",[234250],,,,,Hall-Riggs syndrome,TRUE,FALSE,Active +GARD:2589,Active,Orphanet,ORPHA:2926,Disorder,[Malformation syndrome],Digital extensor muscle aplasia-polyneuropathy,"[Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy, Hamanishi-Ueba-Tsuji syndrome, Polyneuropathy-hand defect syndrome]","Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.",[207740],,,,,Hamanishi Ueba Tsuji syndrome,TRUE,FALSE,Active +GARD:259,Active,Orphanet,ORPHA:3145,Disorder,[Disease],Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome,,"A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990.",[221995],,,,,Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome,TRUE,FALSE,Active +GARD:2593,Active,Orphanet,ORPHA:1927,Disorder,[Malformation syndrome],Emery-Nelson syndrome,[Hand and foot deformity-flat facies syndrome],"Emery-Nelson syndrome is a rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.",[139750],,,,,Hand and foot deformity with flat facies,TRUE,FALSE,Active +GARD:2594,Active,Orphanet,ORPHA:2438,Disorder,[Malformation syndrome],Hand-foot-genital syndrome,"[HFGS, Hand-foot-uterus syndrome]",Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.,[140000],,,,,Hand foot uterus syndrome,TRUE,FALSE,Active +GARD:2597,Active,Orphanet,ORPHA:3294,Disorder,[Malformation syndrome],Extensor tendons of finger anomalies,[Hapnes-Boman-Skeie syndrome],"Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980.",[187390],,,,,"Tendons, extensor, of fingers, anomalous insertion of",TRUE,FALSE,Active +GARD:2598,Active,Orphanet,ORPHA:2812,Disorder,[Disease],Parana hard skin syndrome,"[Hard skin syndrome, Parana type]","Parana hard skin syndrome is a rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.",[260530],,,,,Hard skin syndrome Parana type,TRUE,FALSE,Active +GARD:2599,Active,Orphanet,ORPHA:899,Disorder,[Disease],Walker-Warburg syndrome,"[HARD syndrome, Hydrocephalus-agyria-retinal dysplasia syndrome, WWS]",Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.,"[613153, 615041, 613154, 253800, 618135, 616538, 614643, 615181, 236670, 253280, 613150, 615249, 615287, 614830]",,,,,Walker-Warburg syndrome,TRUE,FALSE,Active +GARD:26,Active,Orphanet,ORPHA:195,Disorder,[Malformation syndrome],Cat-eye syndrome,[CES],"Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.",[115470],,,,,Cat eye syndrome,TRUE,FALSE,Active +GARD:2600,Active,Orphanet,ORPHA:1177,Disorder,[Disease],Early-onset cerebellar ataxia with retained tendon reflexes,"[EOCA, EOCARR, Harding ataxia]","Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.",[212895],,,,,Harding ataxia,TRUE,FALSE,Active +GARD:2601,Active,Orphanet,ORPHA:2115,Disorder,[Malformation syndrome],Harrod syndrome,[Cranio-facio-digito-genital syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.",[601095],,,,,Harrod Doman Keele syndrome,TRUE,FALSE,Active +GARD:2604,Legacy,GARD,,,,,,,,,,,,Hashimoto-Pritzker syndrome,TRUE,FALSE,Active +GARD:2605,Active,Orphanet,ORPHA:2994,Disorder,[Malformation syndrome],Short stature-craniofacial anomalies-genital hypoplasia syndrome,[Haspeslagh-Fryns-Muelenaere syndrome],"A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.",[177980],,,,,Short stature-craniofacial anomalies-genital hypoplasia syndrome,TRUE,FALSE,Active +GARD:2610,Active,Orphanet+OMIM,OMIM:604559,Subtype of disorder,[Disease subtype],"Progressive familial heart block, type ib",[Pfhbib],,[604559],[871],[Familial progressive cardiac conduction defect],[10005],,Progressive familial heart block type 1B,TRUE,FALSE,Active +GARD:2612,Legacy,GARD,,,,,,,,,,,,"Heart defect, tongue hamartoma and polysyndactyly",TRUE,FALSE,Retired +GARD:2613,Active,Orphanet,ORPHA:1354,Disorder,[Malformation syndrome],Heart defects-limb shortening syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs) and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.",[212135],,,,,Cardioskeletal syndrome Kuwaiti type,TRUE,FALSE,Active +GARD:2614,Active,Orphanet,ORPHA:1342,Disorder,[Malformation syndrome],Heart-hand syndrome type 3,"[Atriodigital dysplasia type 3, Cardiomelic syndrome type 3, Heart-hand syndrome, Spanish type, Heart-limb syndrome type 3]","Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.",[140450],,,,,"Heart-hand syndrome, Spanish type",TRUE,FALSE,Active +GARD:2619,Legacy,GARD,,,,,,,,,,,,Heart tumor,TRUE,FALSE,Active +GARD:262,Active,Orphanet,ORPHA:644,Disorder,[Disease],NARP syndrome,"[Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome, Neuropathy-ataxia-retinitis pigmentosa syndrome]","A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.",[551500],,,,,Neuropathy ataxia retinitis pigmentosa syndrome,TRUE,FALSE,Active +GARD:2620,Active,Orphanet,ORPHA:2119,Disorder,[Malformation syndrome],HEC syndrome,[Hydrocephalus-endocardial fibroelastosis-cataract syndrome],"A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evience of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.",[600559],,,,,HEC syndrome,TRUE,FALSE,Active +GARD:2621,Active,Orphanet,ORPHA:3377,Disorder,[Malformation syndrome],Trismus-pseudocamptodactyly syndrome,"[Distal arthrogryposis type 7, Dutch-Kentucky syndrome, Hecht syndrome, Hecht-Beals syndrome]","A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.",[158300],,,,,Trismus-pseudocamptodactyly syndrome,TRUE,FALSE,Active +GARD:2622,Active,Orphanet,ORPHA:2492,Disorder,[Malformation syndrome],FATCO syndrome,"[Fibular aplasia-tibial campomelia-oligosyndactyly syndrome, Hecht-Scott syndrome]","A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.",,,,,,"Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome",TRUE,FALSE,Active +GARD:2627,Active,Orphanet+OMIM,OMIM:234820,Subtype of disorder,[Disease subtype],"Hemangiopericytoma, malignant",,"Malignant tumors of the vascular system are relatively uncommon and usually have an unfavorable, rapid clinical course. Metastases usually occur early by hematogenous routes to the lung and bone as well as to the regional lymph nodes. These vascular tumors may develop anywhere and can be difficult to diagnose, both clinically and histologically. Histogenetically they are of 2 main types: malignant hemangioendotheliomas originating from intimal endothelial cells, and malignant hemangiopericytomas arising from adventitial perivascular cells or pericytes. {1:Plukker et al. (1988)} reported malignant hemangiopericytoma in a brother and sister, aged 19 and 22 years, respectively, and in a 25-year-old fifth cousin of theirs. In 1 patient the tumor originated in the scalp, in the second in the right lower quadrant of the abdomen, and in the third in the right orbit.",[234820],[2126],[Solitary fibrous tumor/hemangiopericytoma],[15014],,Hemangiopericytoma,TRUE,FALSE,Active +GARD:2628,Legacy,GARD,,,,,,,,,,,,"Hemeralopia, congenital essential",TRUE,FALSE,Retired +GARD:2629,Legacy,GARD,,,,,,,,,,,,"Hemeralopia, familial",TRUE,FALSE,Retired +GARD:263,Legacy,GARD,,,,,,,,,,,,Narrow oral fissure short stature cone shaped epiphyses,TRUE,FALSE,Retired +GARD:2630,Active,Orphanet,ORPHA:2128,Disorder,[Morphological anomaly],Isolated hemihyperplasia,"[Hemi 3 syndrome, Hemicorporal hypertrophy, Isolated hemihypertrophy]","Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.",[235000],,,,,Hemi 3 syndrome,TRUE,FALSE,Active +GARD:2631,Legacy,GARD,,,,,,,,,,,,Hemifacial atrophy agenesis of the caudate nucleus,TRUE,FALSE,Retired +GARD:2633,Active,Orphanet,ORPHA:1241,Disorder,[Malformation syndrome],Bencze syndrome,[Hemifacial hyperplasia-strabismus syndrome],"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.",[141350],,,,,Hemifacial hyperplasia strabismus,TRUE,FALSE,Active +GARD:2636,Legacy,GARD,,,,,,,,,,,,Hemihypertrophy intestinal web corneal opacity,TRUE,FALSE,Retired +GARD:2637,Active,Orphanet,ORPHA:99802,Disorder,[Malformation syndrome],Hemimegalencephaly,[Unilateral megalencephaly],"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.",,,,,,Hemimegalencephaly,TRUE,FALSE,Active +GARD:2638,Active,Orphanet+OMIM,OMIM:141500,Subtype of disorder,[Disease subtype],"Migraine, familial hemiplegic, 1","[Fhm, mhp1]","Familial hemiplegic migraine-1 (FHM1) is an autosomal dominant form of migraine with aura. Typical attacks include a unilateral motor deficit associated with paresthesias, speech disturbances, or visual signs. These aura symptoms last from 10 minutes to a few hours and are followed by a migrainous headache. In some families, affected individuals have permanent cerebellar symptoms, such as nystagmus and slowly progressive mild to moderate statokinetic ataxia. In some cases, cerebral magnetic resonance imaging (MRI) reveals cerebellar atrophy (summary by {7:Ducros et al., 1999}).",[141500],[569],[Familial or sporadic hemiplegic migraine],[10768],,Familial hemiplegic migraine type 1,TRUE,FALSE,Retired +GARD:264,Active,Orphanet,ORPHA:1824,Disorder,[Disease],Lowry-Wood syndrome,[Epiphyseal dysplasia-microcephaly-nystagmus syndrome],"A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.",[226960],,,,,Lowry Wood syndrome,TRUE,FALSE,Active +GARD:2640,Active,Orphanet,ORPHA:2132,Disorder,[Disease],Hemoglobin C disease,,"Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).",,,,,,Hemoglobin C disease,TRUE,FALSE,Active +GARD:2641,Active,Orphanet,ORPHA:2133,Disorder,[Disease],Hemoglobin E disease,,"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.",,,,,,Hemoglobin E disease,TRUE,FALSE,Active +GARD:2642,Active,Orphanet,ORPHA:1046,Disorder,[Malformation syndrome],Lethal hemolytic anemia-genital anomalies syndrome,[Water-West syndrome],"A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.",[600461],,,,,Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities,TRUE,FALSE,Active +GARD:2648,Legacy,GARD,,,,,,,,,,,,Hennekam Van der Horst syndrome,TRUE,FALSE,Retired +GARD:2649,Legacy,GARD,,,,,,,,,,,,Heparane sulfamidase deficiency,TRUE,FALSE,Active +GARD:265,Active,Orphanet,ORPHA:3351,Disorder,[Malformation syndrome],Trichodental syndrome,[Kersey syndrome],"A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported.",[601453],,,,,Trichodental syndrome,TRUE,FALSE,Active +GARD:2650,Active,Orphanet,ORPHA:3325,Disorder,[Disease],Heparin-induced thrombocytopenia,"[HAT, HIT, Heparin-associated thrombocytopenia, Heparin-induced thrombocytopenia type 2]","A rare drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.",,,,,,Heparin-induced thrombocytopenia,TRUE,FALSE,Active +GARD:2651,Active,Orphanet,ORPHA:386,Disorder,[Disease],Hepatic cystic hamartoma,"[Biliary hamartoma, MHL, Mesenchymal hamartoma of liver, VMC, Von Meyenburg complexes disease]","Hepatic cystic hamartoma, also named Mesenchyma hamartoma of liver, is a rare benign liver tumor of childhood, usually before the age of 2, of mesenchymal origin and variable clinical presentation (abdominal dissension, abdominal mass, pain, vomiting and signs of inferior vena cava compression).",,,,,,Hepatic cystic hamartoma,TRUE,FALSE,Active +GARD:2653,Legacy,GARD,,,,,,,,,,,,Hepatic fibrosis renal cysts mental retardation,TRUE,FALSE,Retired +GARD:2657,Active,Orphanet,ORPHA:449,Disorder,[Disease],Hepatoblastoma,,"A malignant hepatic tumor, typically affecting the pediatric population, arising mostly in an otherwise healthy liver. The most common signs are abdominal distension and abdominal mass. Sometimes patients present with anorexia, weight loss, fatigue. Most HBLs are sporadic, but some cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy, and familial adenomatous polyposis (FAP).",[114550],,,,,Hepatoblastoma,TRUE,FALSE,Active +GARD:2658,Active,Orphanet,ORPHA:882,Disorder,[Disease],Tyrosinemia type 1,"[FAH deficiency, Fumarylacetoacetase deficiency, Fumarylacetoacetate hydrolase deficiency, Hepatorenal tyrosinemia, Tyrosinemia type I]","Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.",[276700],,,,,Tyrosinemia type 1,TRUE,FALSE,Active +GARD:2659,Active,Orphanet,ORPHA:621,Disorder,[Disease],Hereditary methemoglobinemia,"[Autosomal recessive methemoglobinemia, Congenital methemoglobinemia]",A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2).,"[250700, 250790, 250800]",,,,,Hereditary methemoglobinemia,TRUE,FALSE,Active +GARD:2660,Legacy,GARD,,,,,,,,,,,,Hereditary myopathy with intranuclear filamentous,TRUE,FALSE,Retired +GARD:2661,Legacy,GARD,,,,,,,,,,,,Hereditary nodular heterotopia,TRUE,FALSE,Active +GARD:2662,Legacy,GARD,,,,,,,,,,,,Hereditary primary Fanconi disease,TRUE,FALSE,Retired +GARD:2663,Legacy,GARD,,,,,,,,,,,,Hereditary resistance to anti-vitamin K,TRUE,FALSE,Active +GARD:2669,Legacy,GARD,,,,,,,,,,,,Herpes virus antenatal infection,TRUE,FALSE,Active +GARD:267,Active,Orphanet,ORPHA:2662,Disorder,[Malformation syndrome],Keipert syndrome,[Nasodigitoacoustic syndrome],"A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.",[301026],,,,,Nasodigitoacoustic syndrome,TRUE,FALSE,Active +GARD:2670,Legacy,GARD,,,,,,,,,,,,Herpetic embryopathy,TRUE,FALSE,Retired +GARD:2671,Legacy,GARD,,,,,,,,,,,,Herrmann Opitz craniosynostosis,TRUE,FALSE,Active +GARD:2672,Legacy,GARD,,,,,,,,,,,,Hersh Podruch Weisskopk syndrome,TRUE,FALSE,Active +GARD:2682,Active,Orphanet,ORPHA:1808,Disorder,[Malformation syndrome],"Hidrotic ectodermal dysplasia, Christianson-Fourie type",[Christianson-Fourie syndrome],"Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.",[601375],,,,,"Ectodermal dysplasia, hidrotic, Christianson-Fourie type",TRUE,FALSE,Active +GARD:2684,Active,Orphanet,ORPHA:483,Disorder,[Disease],Congenital high-molecular-weight kininogen deficiency,,"A rare genetic hematologic disease characterized by abnormal surface-mediated activation of fibrinolysis due to the deficiency of high-molecular-weight kininogen in plasma. Activated partial thromboplastin time (aPTT) may be prolonged. Clinically, patients are typically asymptomatic and do not show increased bleeding or thrombotic tendency.",[228960],,,,,High molecular weight kininogen deficiency,TRUE,FALSE,Active +GARD:2685,Legacy,GARD,,,,,,,,,,,,Hillig syndrome,TRUE,FALSE,Retired +GARD:2686,Legacy,GARD,,,,,,,,,,,,Hing Torack Dowston syndrome,TRUE,FALSE,Retired +GARD:269,Active,Orphanet,ORPHA:2307,Disorder,[Malformation syndrome],IVIC syndrome,"[Oculo-oto-radial syndrome, Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia]","IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.",[147750],,,,,IVIC syndrome,TRUE,FALSE,Active +GARD:2690,Active,Orphanet,ORPHA:2114,Disorder,[Disease],"Hip dysplasia, Beukes type","[BFHD, Beukes familial hip dysplasia, Cilliers-Beighton syndrome, Premature degenerative osteoarthropathy of the hip]","A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.",[142669],,,,,Beukes familial hip dysplasia,TRUE,FALSE,Active +GARD:2691,Legacy,GARD,,,,,,,,,,,,Hip luxation,TRUE,FALSE,Retired +GARD:2692,Legacy,GARD,,,,,,,,,,,,Hip subluxation,TRUE,FALSE,Active +GARD:2695,Active,Orphanet,ORPHA:2151,Disorder,[Malformation syndrome],Hirschsprung disease-ganglioneuroblastoma syndrome,,"A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.",,,,,,Hirschsprung disease ganglioneuroblastoma,TRUE,FALSE,Active +GARD:2696,Legacy,GARD,,,,,,,,,,,,Hirschsprung disease polydactyly heart disease,TRUE,FALSE,Retired +GARD:2698,Legacy,GARD,,,,,,,,,,,,Hirschsprung disease type 2,TRUE,FALSE,Active +GARD:2699,Legacy,GARD,,,,,,,,,,,,Hirschsprung disease type 3,TRUE,FALSE,Active +GARD:27,Active,Orphanet,ORPHA:50839,Disorder,[Disease],Cat-scratch disease,[Bartonellosis due to Bartonella henselae infection],"Cat-scratch disease is a rare infectious disease, caused by the Gram-negative bacteria Bartonella henselae, that is transmitted to humans via a scratch or bite of an infected cat and that has a variable clinical presentation but that usually manifests with an erythematous papule at the site of inoculation followed by chronic regional lymphadenopathy. Clinical course is usually self-limiting but disseminated illness with high fever, hepatosplenomegaly, granulomatous osteolytic lesions, encephalitis, retinitis, and atypical pneumonia can also occur. Cat-scratch disease can atypically present as parinaud oculoglandular syndrome (unilateral conjunctivitis and preauricular lymphadenopathy).",,,,,,Cat scratch disease,TRUE,FALSE,Active +GARD:270,Active,Orphanet,ORPHA:3051,Disorder,[Malformation syndrome],Nicolaides-Baraitser syndrome,[Intellectual disability-sparse hair-brachydactyly syndrome],"A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth.",[601358],,,,,Nicolaides-Baraitser syndrome,TRUE,FALSE,Active +GARD:2700,Active,Orphanet,ORPHA:2150,Disorder,[Malformation syndrome],Hirschsprung disease-type D brachydactyly syndrome,,Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.,[306980],,,,,Hirschsprung disease type d brachydactyly,TRUE,FALSE,Active +GARD:2702,Legacy,GARD,,,,,,,,,,,,Hirschsprung microcephaly cleft palate,TRUE,FALSE,Retired +GARD:2703,Legacy,GARD,,,,,,,,,,,,Hirschsprung nail hypoplasia dysmorphism,TRUE,FALSE,Active +GARD:2705,Legacy,GARD,,,,,,,,,,,,Hirsutism skeletal dysplasia mental retardation,TRUE,FALSE,Retired +GARD:2706,Active,Orphanet,ORPHA:3283,Disorder,[Disease],His bundle tachycardia,"[JET, Junctional ectopic tachycardia]",His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.,,,,,,His bundle tachycardia,TRUE,FALSE,Active +GARD:2708,Active,Orphanet,ORPHA:2158,Disorder,[Disease],Histidinuria-renal tubular defect syndrome,,"A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.",[235830],,,,,Histidinuria renal tubular defect,TRUE,FALSE,Active +GARD:2709,Legacy,GARD,,,,,,,,,,,,Hittner Hirsch Kreh syndrome,TRUE,FALSE,Retired +GARD:271,Legacy,GARD,,,,,,,,,,,,Vagneur Triolle Ripert syndrome,TRUE,FALSE,Active +GARD:2710,Legacy,GARD,,,,,,,,,,,,Hm syndrome,TRUE,FALSE,Retired +GARD:2712,Active,Orphanet,ORPHA:35701,Disorder,[Disease],3-hydroxy-3-methylglutaryl-CoA synthase deficiency,[HMG-CoA synthase deficiency],"3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.",[605911],,,,,HMG CoA synthetase deficiency,TRUE,FALSE,Active +GARD:2714,Active,Orphanet,ORPHA:98293,Group of disorders,[Clinical group],Hodgkin lymphoma,,Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases.,,,,,,Hodgkin lymphoma,TRUE,FALSE,Active +GARD:2717,Legacy,GARD,,,,,,,,,,,,Holmes Borden syndrome,TRUE,FALSE,Retired +GARD:272,Active,Orphanet,ORPHA:3412,Disorder,[Malformation syndrome],VACTERL with hydrocephalus,[Sujansky-Leonard syndrome],"VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.","[276950, 314390]",,,,,VACTERL hydrocephaly,TRUE,FALSE,Active +GARD:2720,Legacy,GARD,,,,,,,,,,,,Holoacardius amorphus,TRUE,FALSE,Active +GARD:2721,Active,Orphanet,ORPHA:79242,Disorder,[Disease],Holocarboxylase synthetase deficiency,"[Early-onset multiple carboxylase deficiency, Neonatal multiple carboxylase deficiency]","A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.",[253270],,,,,Holocarboxylase synthetase deficiency,TRUE,FALSE,Active +GARD:2722,Active,Orphanet,ORPHA:2165,Disorder,[Malformation syndrome],Holoprosencephaly-caudal dysgenesis syndrome,,"Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).",,,,,,Holoprosencephaly caudal dysgenesis,TRUE,FALSE,Retired +GARD:2725,Active,Orphanet,ORPHA:2117,Disorder,[Malformation syndrome],Hartsfield syndrome,[Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome],"A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated.",[615465],,,,,Holoprosencephaly ectrodactyly cleft lip palate,TRUE,FALSE,Active +GARD:2727,Active,Orphanet,ORPHA:3186,Disorder,[Malformation syndrome],Holoprosencephaly-radial heart renal anomalies syndrome,[Steinfeld syndrome],"A rare multiple congenital anomalies syndrome characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.",[184705],,,,,Steinfeld syndrome,TRUE,FALSE,Active +GARD:2728,Active,Orphanet,ORPHA:2167,Disorder,[Malformation syndrome],Holzgreve syndrome,"[Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome, Holzgreve-Wagner-Rehder syndrome]","Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.",[236110],,,,,Holzgreve syndrome,TRUE,FALSE,Active +GARD:273,Active,Orphanet,ORPHA:2834,Subtype of disorder,[Clinical subtype],Wrinkly skin syndrome,"[WSS, Wrinkled skin syndrome]","Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).",[278250],,,,,Wrinkly skin syndrome,TRUE,FALSE,Active +GARD:2730,Legacy,GARD,,,,,,,,,,,,Homocarnosinosis,TRUE,FALSE,Active +GARD:2732,Legacy,GARD,,,,,,,,,,,,Homocystinuria due to defect in methylation cbl e,TRUE,FALSE,Active +GARD:2733,Legacy,GARD,,,,,,,,,,,,Homocystinuria due to defect in methylation cbl g,TRUE,FALSE,Active +GARD:2734,Active,Orphanet,ORPHA:395,Disorder,[Disease],Homocystinuria due to methylene tetrahydrofolate reductase deficiency,"[MTHFR deficiency, Methylene tetrahydrofolate reductase deficiency]",Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.,[236250],,,,,Homocystinuria due to MTHFR deficiency,TRUE,FALSE,Active +GARD:2735,Legacy,GARD,,,,,,,,,,,,Hoon Hall syndrome,TRUE,FALSE,Retired +GARD:2736,Legacy,GARD,,,,,,,,,,,,Hordnes Engebretsen Knudtson syndrome,TRUE,FALSE,Active +GARD:2737,Legacy,GARD,,,,,,,,,,,,Horn Kolb syndrome,TRUE,FALSE,Active +GARD:2739,Legacy,GARD,,,,,,,,,,,,Horseshoe kidney,FALSE,FALSE,Active +GARD:274,Active,Orphanet,ORPHA:2571,Disorder,[Disease],X-linked immunoneurologic disorder,[Woods-Black-Norbury syndrome],"X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.",[300076],,,,,Woods Black Norbury syndrome,TRUE,FALSE,Active +GARD:2742,Active,Orphanet,ORPHA:1352,Disorder,[Malformation syndrome],Atrioventricular defect-blepharophimosis-radial and anal defect syndrome,[Houlston-Ironton-Temple syndrome],"A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.",[600123],,,,,Houlston Ironton Temple syndrome,TRUE,FALSE,Retired +GARD:2748,Active,Orphanet,ORPHA:3265,Disorder,[Morphological anomaly],Humero-radial synostosis,[Humero-radial fusion],"Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.","[236400, 143050]",,,,,Humeroradial synostosis,TRUE,FALSE,Active +GARD:2749,Active,Orphanet,ORPHA:3266,Disorder,[Morphological anomaly],Humero-radio-ulnar synostosis,[Humero-radio-ulnar fusion],"Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.",,,,,,Humeroradioulnar synostosis,TRUE,FALSE,Active +GARD:275,Legacy,GARD,,,,,,,,,,,,Serpentine fibula polycystic kidney syndrome,TRUE,FALSE,Retired +GARD:2750,Active,Orphanet,ORPHA:3383,Disorder,[Malformation syndrome],Humerus trochlea aplasia,,"An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.",[191000],,,,,Trochlea of the humerus aplasia of,TRUE,FALSE,Active +GARD:2751,Legacy,GARD,,,,,,,,,,,,Hunter Carpenter Macdonald syndrome,TRUE,FALSE,Retired +GARD:2753,Legacy,GARD,,,,,,,,,,,,Hunter Macpherson syndrome,TRUE,FALSE,Retired +GARD:2754,Active,Orphanet,ORPHA:97340,Disorder,[Malformation syndrome],Hunter-McAlpine syndrome,,"Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).",[601379],,,,,Hunter-McAlpine syndrome,TRUE,FALSE,Active +GARD:2755,Legacy,GARD,,,,,,,,,,,,Hunter Mcdonald syndrome,TRUE,FALSE,Active +GARD:2756,Active,Orphanet,ORPHA:3365,Disorder,[Malformation syndrome],Trigonocephaly-broad thumbs syndrome,[Hunter-Rudd-Hoffmann syndrome],"Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.",,,,,,Hunter Rudd Hoffmann syndrome,TRUE,FALSE,Retired +GARD:2759,Legacy,GARD,,,,,,,,,,,,Hurst Hallam Hockey syndrome,TRUE,FALSE,Retired +GARD:276,Active,Orphanet+OMIM,OMIM:614841,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 12 with or without anosmia,"[Eunuchoidism, familial hypogonadotropic, gonadotropin deficiency, familial idiopathic]","Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {10:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[614841],[432],[Normosmic congenital hypogonadotropic hypogonadism],[16533],,Eunuchoidism familial hypogonadotropic,TRUE,FALSE,Active +GARD:2762,Legacy,GARD,,,,,,,,,,,,Hyalinosis systemic short stature,TRUE,FALSE,Retired +GARD:2764,Active,Orphanet,ORPHA:400,Disorder,[Disease],Cystic echinococcosis,"[Hydatid disease, Hydatidosis]","Hydatidosis or cyst hydatic disease is a cosmopolitan larval cestodosis caused principally by the Echinococcus granulosus tapeworm, the adult form of which parasitises the intestine of dogs. Hydatidosis generally affects large domestic herbivores; humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement.",,,,,,Hydatidosis,TRUE,FALSE,Active +GARD:2765,Active,Orphanet,ORPHA:2898,Disorder,[Malformation syndrome],X-linked intellectual disability-plagiocephaly syndrome,[Hyde Forster-McCarthy-Berry syndrome],"A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.",[300064],,,,,X-linked intellectual disability-plagiocephaly syndrome,TRUE,FALSE,Active +GARD:2767,Legacy,GARD,,,,,,,,,,,,Hydrocephalus autosomal recessive,TRUE,FALSE,Active +GARD:277,Active,Orphanet,ORPHA:2892,Disorder,[Malformation syndrome],Pilodental dysplasia-refractive errors syndrome,"[Euhidrotic ectodermal dysplasia, Kopysc-Barczyk-Krol syndrome]","Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.",[262020],,,,,Pilodental dysplasia with refractive errors,TRUE,FALSE,Active +GARD:2772,Legacy,GARD,,,,,,,,,,,,Hydrocephalus craniosynostosis bifid nose,TRUE,FALSE,Retired +GARD:2774,Legacy,GARD,,,,,,,,,,,,Hydrocephalus growth retardation skeletal anomalies,TRUE,FALSE,Retired +GARD:2775,Active,Orphanet,ORPHA:2183,Disorder,[Malformation syndrome],Hydrocephalus-obesity-hypogonadism syndrome,[Sengers-Hamel-Otten syndrome],"This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.",,,,,,Hydrocephalus obesity hypogonadism,TRUE,FALSE,Active +GARD:2776,Legacy,GARD,,,,,,,,,,,,Hydrocephalus skeletal anomalies,TRUE,FALSE,Active +GARD:2777,Legacy,GARD,,,,,,,,,,,,Hydrocephaly corpus callosum agenesis diaphragmatic hernia,TRUE,FALSE,Retired +GARD:2781,Legacy,GARD,,,,,,,,,,,,Hydronephrosis peculiar facial expression,TRUE,FALSE,Retired +GARD:2782,Legacy,GARD,,,,,,,,,,,,Hydrops ectrodactyly syndactyly,TRUE,FALSE,Retired +GARD:2783,Active,Orphanet,ORPHA:1041,Disorder,[Malformation syndrome],Hydrops fetalis,"[Fetal anasarca, Fetal hydrops, Generalized fetal edema, HF]","Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).",[236750],,,,,Hydrops fetalis,TRUE,FALSE,Active +GARD:2784,Legacy,GARD,,,,,,,,,,,,Hydrops fetalis anemia immune disorder absent thumb,TRUE,FALSE,Retired +GARD:2786,Legacy,GARD,,,,,,,,,,,,Hygroma cervical,TRUE,FALSE,Active +GARD:2787,Active,Orphanet,ORPHA:401,Disorder,[Disease],Hymenolepiasis,,"Hymenolepiasis is a cosmopolitan parasitosis caused by a hymenolepidid tapeworm infection, most commonly Hymenolepis nana, that is reported worldwide but particularly in tropical and subtropical countries and which is usually asymptomatic but in severe cases can also manifest with nausea, abdominal pain, anorexia, diarrhea and overall weakness.",,,,,,Hymenolepiasis,TRUE,FALSE,Active +GARD:2788,Active,Orphanet,ORPHA:343,Subtype of disorder,[Clinical subtype],Hyperimmunoglobulinemia D with periodic fever,"[HIDS, Hyper-IgD syndrome, Hyperimmunoglobinemia D with recurrent fever, Hyperimmunoglobulinemia D syndrome, Partial mevalonate kinase deficiency]","A rare autoinflammatory disease, and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations.",[260920],,,,,Hyper-IgD syndrome,TRUE,FALSE,Active +GARD:2789,Active,Orphanet,ORPHA:404,Disorder,[Disease],Familial hyperaldosteronism type II,"[FH-II, FH2, Familial adrenal adenoma, Familial hyperaldosteronism type 2]","A heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, non-glucocorticoid remediable hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA) and increased aldosterone-to-renin ratio.",[605635],,,,,Familial hyperaldosteronism type 2,TRUE,FALSE,Active +GARD:279,Legacy,GARD,,,,,,,,,,,,Hemorrhagic proctocolitis,TRUE,FALSE,Active +GARD:2790,Active,Orphanet,ORPHA:403,Disorder,[Disease],Familial hyperaldosteronism type I,"[Dexamethasone-sensitive hypertension, FH-I, FH1, Familial hyperaldosteronism type 1, GRA, Glucocorticoid-remediable aldosteronism, Glucocorticoid-sensitive hypertension]","A rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.",[103900],,,,,Glucocorticoid-remediable aldosteronism,TRUE,FALSE,Active +GARD:2791,Active,Orphanet,ORPHA:2312,Disorder,[Disease],Transient familial neonatal hyperbilirubinemia,[Lucey-Driscoll syndrome],"A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.",[237900],,,,,Hyperbilirubinemia transient familial neonatal,TRUE,FALSE,Active +GARD:2793,Active,Orphanet,ORPHA:234,Disorder,[Disease],Dubin-Johnson syndrome,"[Dubin-Sprinz disease, Hyperbilirubinemia type 2, Sprinz-Nelson syndrome]","Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.",[237500],,,,,Hyperbilirubinemia type 2,TRUE,FALSE,Active +GARD:2796,Active,Orphanet,ORPHA:93372,Subtype of disorder,[Etiological subtype],Familial hypocalciuric hypercalcemia type 1,[FHH type 1],,[145980],,,,,Familial hypocalciuric hypercalcemia type 1,TRUE,FALSE,Active +GARD:28,Active,Orphanet,ORPHA:1388,Disorder,[Malformation syndrome],Catel-Manzke syndrome,"[Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome, Index finger anomaly-Pierre Robin syndrome, Micrognathia digital syndrome, Palatodigital syndrome, Catel-Manzke type, Pierre Robin sequence-hyperphalangy-clinodactyly syndrome, Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome]","Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.",[616145],,,,,Catel Manzke syndrome,TRUE,FALSE,Active +GARD:280,Active,Orphanet,ORPHA:1809,Disorder,[Malformation syndrome],"Hidrotic ectodermal dysplasia, Halal type","[Halal-Setton-Wang syndrome, Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome]","Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.",,,,,,Halal Setton Wang syndrome,TRUE,FALSE,Active +GARD:2800,Legacy,GARD,,,,,,,,,,,,Hypercalcinuria macular coloboma,TRUE,FALSE,Active +GARD:2804,Active,Orphanet,ORPHA:168956,Group of disorders,[Clinical group],Hypereosinophilic syndrome,[HES],"Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.",,,,,,Hypereosinophilic syndrome,TRUE,FALSE,Active +GARD:2806,Active,Orphanet,ORPHA:163,Disorder,[Disease],Hereditary hyperferritinemia-cataract syndrome,"[Bonneau-Beaumont syndrome, HHCS, Hereditary hyperferritinemia with congenital cataracts]",Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.,[600886],,,,,Hyperferritinemia cataract syndrome,TRUE,FALSE,Active +GARD:2807,Active,Orphanet,ORPHA:408,Disorder,[Disease],Isolated glycerol kinase deficiency,[Hyperglycerolemia],"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)).",[307030],,,,,Hyperglycerolemia,TRUE,FALSE,Active +GARD:2808,Legacy,GARD,,,,,,,,,,,,"Hyperglycinemia, isolated nonketotic",FALSE,FALSE,Retired +GARD:2809,Legacy,GARD,,,,,,,,,,,,"Hyperglycinemia, isolated nonketotic type 1",FALSE,FALSE,Retired +GARD:281,Legacy,GARD,,,,,,,,,,,,Ramer Ladda syndrome,TRUE,FALSE,Retired +GARD:2810,Legacy,GARD,,,,,,,,,,,,"Hyperglycinemia, isolated nonketotic type 2",FALSE,FALSE,Retired +GARD:2811,Legacy,GARD,,,,,,,,,,,,"Hypergonadotropic ovarian failure, familial or sporadic",TRUE,FALSE,Active +GARD:2816,Active,Orphanet,ORPHA:217390,Disorder,[Disease],Combined immunodeficiency due to DOCK8 deficiency,"[CID due to DOCK8 deficiency, Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency, DOCK8 immunodeficiency syndrome]","Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).",[243700],,,,,Autosomal recessive hyper IgE syndrome,TRUE,FALSE,Active +GARD:2818,Active,Orphanet,ORPHA:79299,Disorder,[Disease],Hyperinsulinism due to glucokinase deficiency,[Hyperinsulinemic hypoglycemia due to glucokinase deficiency],"Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.",[602485],,,,,Hyperinsulinism due to glucokinase deficiency,TRUE,FALSE,Active +GARD:2819,Legacy,GARD,,,,,,,,,,,,Hyperinsulinism due to glutamodehydrogenase deficiency,TRUE,FALSE,Active +GARD:282,Active,Orphanet,ORPHA:1832,Disorder,[Malformation syndrome],Lethal osteosclerotic bone dysplasia,[Raine syndrome],"A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.",[259775],,,,,Raine syndrome,TRUE,FALSE,Active +GARD:2821,Legacy,GARD,,,,,,,,,,,,"Hyperinsulinism, diffuse",TRUE,FALSE,Active +GARD:2822,Legacy,GARD,,,,,,,,,,,,"Hyperinsulinism, focal",TRUE,FALSE,Retired +GARD:2824,Active,Orphanet,ORPHA:409,Disorder,[Disease],Hyperkeratosis lenticularis perstans,[Flegel disease],"A rare skin disease characterized by usually asymptomatic, hyperkeratotic, reddish-brown papules primarily located on the lower extremities. Histological examination shows lamellar hyperkeratosis with abrupt peripheral basket-weave orthokeratosis, irregular acanthosis, and underlying lichenoid lymphocytic infiltrate. The condition may be sporadic or familial.",[144150],,,,,Hyperkeratosis lenticularis perstans,TRUE,FALSE,Active +GARD:2825,Legacy,GARD,,,,,,,,,,,,Hyperkeratosis palmoplantar localized acanthokeratolytic,TRUE,FALSE,Retired +GARD:2826,Active,Orphanet,ORPHA:2199,Disorder,[Disease],Epidermolytic palmoplantar keratoderma,"[Diffuse erythrodermic palmoplantar keratoderma, Voerner type, Diffuse erythrodermic palmoplantar keratoderma, Vörner type, EPPK, Epidermolytic palmoplantar keratoderma of Voerner, Epidermolytic palmoplantar keratoderma of Vörner]","A rare, non-syndromic, hereditary palmoplantar keratoderma characterized by diffuse, yellowish, thick hyperkeratosis of the palms and soles with a sharp demarcation at the volar border and an erythematous margin, and the epidermolytic pattern of changes on the skin biopsy, including perinuclear vacuolization, granular degeneration of keratinocytes in the spinous and granular layer, and tonofilament aggregates. Painful fissures and hyperhidrosis are frequently associated.",[144200],,,,,Epidermolytic palmoplantar keratoderma,TRUE,FALSE,Active +GARD:2828,Active,Orphanet,ORPHA:2203,Disorder,[Disease],Hyperlysinemia,"[Hyperlysinemia type I, Lysine alpha-ketoglutarate reductase deficiency]",Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.,"[238700, 238710]",,,,,Hyperlysinemia,TRUE,FALSE,Active +GARD:2830,Active,Orphanet,ORPHA:415,Disorder,[Disease],Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,"[HHH syndrome, ORNT1 deficiency, Ornithine carrier deficiency, Ornithine translocase deficiency, Triple H syndrome]","A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.",[238970],,,,,Ornithine translocase deficiency syndrome,TRUE,FALSE,Active +GARD:2831,Active,Orphanet,ORPHA:2801,Disorder,[Malformation syndrome],Juvenile Paget disease,"[Familial osteoectasia, Hereditary hyperphosphatasia, Hyperostosis corticalis deformans juvenilis, JPG]","Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.",[239000],,,,,Juvenile Paget disease,TRUE,FALSE,Active +GARD:2832,Legacy,GARD,,,,,,,,,,,,Hyperostosis cortical infantile,TRUE,FALSE,Retired +GARD:2833,Active,Orphanet,ORPHA:3416,Disorder,[Malformation syndrome],Hyperostosis corticalis generalisata,"[Hyperphosphatasemia tarda, Van Buchem disease]","Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.",[239100],,,,,Hyperostosis corticalis generalisata,TRUE,FALSE,Active +GARD:2835,Active,Orphanet,ORPHA:93598,Subtype of disorder,[Clinical subtype],Primary hyperoxaluria type 1,"[Glycolic aciduria, Peroxisomal alanine-glyoxylate aminotransferase deficiency]",,[259900],,,,,Primary hyperoxaluria type 1,TRUE,FALSE,Active +GARD:2836,Active,Orphanet,ORPHA:93599,Subtype of disorder,[Clinical subtype],Primary hyperoxaluria type 2,"[D-glycerate dehydrogenase deficiency, L-glyceric aciduria]",,[260000],,,,,Primary hyperoxaluria type 2,TRUE,FALSE,Active +GARD:2837,Active,Orphanet,ORPHA:2207,Group of disorders,[Clinical group],Familial primary hyperparathyroidism,,,,,,,,Familial isolated hyperparathyroidism,TRUE,FALSE,Active +GARD:2838,Active,Orphanet,ORPHA:417,Disorder,[Disease],Neonatal severe primary hyperparathyroidism,[NSHPT],Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.,"[618188, 239200]",,,,,Neonatal severe hyperparathyroidism,TRUE,FALSE,Active +GARD:284,Active,Orphanet,ORPHA:86915,Disorder,[Malformation syndrome],Lymphedema-atrial septal defects-facial changes syndrome,"[Irons-Bhan syndrome, Irons-Bianchi syndrome]","Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.",[601927],,,,,Irons Bhan syndrome,TRUE,FALSE,Active +GARD:2840,Legacy,GARD,,,,,,,,,,,,Hyperphenilalaninemia due to pterin-4-alpha-carbin,TRUE,FALSE,Retired +GARD:2843,Active,Orphanet,ORPHA:1578,Subtype of disorder,[Clinical subtype],Pterin-4 alpha-carbinolamine dehydratase deficiency,"[Hyperphenylalaninemia due to dehydratase deficiency, Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency, Hyperphenylalaninemia with primapterinuria]","A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.",[264070],,,,,Hyperphenylalaninemia due to dehydratase deficiency,TRUE,FALSE,Active +GARD:2844,Active,Orphanet,ORPHA:2102,Subtype of disorder,[Clinical subtype],GTP cyclohydrolase I deficiency,"[GTPCH deficiency, Hyperphenylalaninemia due to GTP cyclohydrolase deficiency]","GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.",[233910],,,,,GTP cyclohydrolase I deficiency,TRUE,FALSE,Active +GARD:2846,Legacy,GARD,,,,,,,,,,,,Hyperpipecolatemia,TRUE,FALSE,Retired +GARD:2847,Active,Orphanet,ORPHA:419,Disorder,[Disease],Hyperprolinemia type 1,[Proline oxidase deficiency],"A rare disorder of proline metabolism characterized biochemically by markedly elevated levels of proline in plasma and urine due to deficiency of proline oxidase. The reported clinical phenotype ranges from asymptomatic to variable neurologic and psychiatric manifestations (including global developmental delay, seizures, autistic features, and hyperactivity).",[239500],,,,,Hyperprolinemia,TRUE,FALSE,Active +GARD:2848,Legacy,GARD,,,,,,,,,,,,Hypertelorism and tetralogy of Fallot,TRUE,FALSE,Active +GARD:2854,Legacy,GARD,,,,,,,,,,,,Hypertensive hypokalemia familial,TRUE,FALSE,Retired +GARD:2856,Active,Orphanet,ORPHA:2216,Disorder,[Malformation syndrome],Maternal hyperthermia-induced birth defects,,"A rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.",,,,,,Hyperthermia induced defects,TRUE,FALSE,Active +GARD:2858,Active,Orphanet,ORPHA:424,Disorder,[Disease],Familial hyperthyroidism due to mutations in TSH receptor,"[Familial non-immune hyperthyroidism, Resistance to thyroid stimulating hormone]","A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.",[609152],,,,,Familial hyperthyroidism due to mutations in TSH receptor,TRUE,FALSE,Active +GARD:286,Legacy,GARD,,,,,,,,,,,,Imaizumi Kuroki syndrome,TRUE,FALSE,Retired +GARD:2863,Active,Orphanet,ORPHA:79495,Subtype of disorder,[Clinical subtype],X-linked congenital generalized hypertrichosis,"[Congenital generalized hypertrichosis, Macias-Flores type, Macias Flores-Garcia Cruz-Rivera syndrome]","X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.",[307150],,,,,X-linked congenital generalized hypertrichosis,TRUE,FALSE,Active +GARD:2864,Active,Orphanet,ORPHA:2221,Disorder,[Disease],Acquired hypertrichosis lanuginosa,,"A rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.",,,,,,"Hypertrichosis lanuginosa, acquired",TRUE,FALSE,Active +GARD:2865,Active,Orphanet,ORPHA:2222,Disorder,[Disease],Hypertrichosis lanuginosa congenita,[Hypertrichosis universalis],"Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.","[145700, 145701, 307150]",,,,,Hypertrichosis lanuginosa congenita,TRUE,FALSE,Active +GARD:2868,Legacy,GARD,,,,,,,,,,,,Hypertrophic hemangiectasia,TRUE,FALSE,Retired +GARD:287,Active,Orphanet,ORPHA:2211,Disorder,[Malformation syndrome],Hypertelorism-hypospadias-polysyndactyly syndrome,"[Acrofrontofacionasal dysostosis type 2, Acrofrontofacionasal syndrome type 2, Naguib-Richieri-Costa syndrome]",Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.,[239710],,,,,Naguib-Richieri-Costa syndrome,TRUE,FALSE,Active +GARD:2871,Active,Orphanet,ORPHA:2224,Disorder,[Disease],Hypertryptophanemia,,"A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.",[600627],,,,,Hypertryptophanemia,TRUE,FALSE,Active +GARD:2872,Active,Orphanet,ORPHA:425,Disorder,[Disease],Apolipoprotein A-I deficiency,"[ApoA-I deficiency, Familial apoA-I deficiency, Familial hypoalphalipoproteinemia]","A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).","[604091, 618463]",,,,,Familial HDL deficiency,TRUE,FALSE,Active +GARD:2874,Legacy,GARD,,,,,,,,,,,,Hypoaldosteronism,TRUE,FALSE,Active +GARD:2875,Legacy,GARD,,,,,,,,,,,,Hypobetalipoproteinaemia ataxia hearing loss,TRUE,FALSE,Retired +GARD:2876,Active,Orphanet+OMIM,OMIM:615558,Subtype of disorder,[Disease subtype],"Hypobetalipoproteinemia, familial, 1","[hypobetalipoproteinemia, normotriglyceridemic, acanthocytosis with hypobetalipoproteinemia, Hypobetalipoproteinemia, familial]","Hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL; {200100}) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of FHBL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance, whereas obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance (summary by {15:Lee and Hegele, 2014}).\n\n<Subhead> Genetic Heterogeneity of Familial Hypobetalipoproteinemia\n\nFamilial hypobetalipoproteinemia-2 (FHBL2; {605019}) is caused by mutation in the ANGPTL3 gene ({604774}) on chromosome 1p31.",[615558],[14],[Abetalipoproteinemia],[5],,Familial hypobetalipoproteinemia,TRUE,FALSE,Active +GARD:2877,Active,Orphanet,ORPHA:428,Subtype of disorder,[Clinical subtype],Autosomal dominant hypocalcemia,[AD hypocalcemia],A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.,"[615361, 601198]",,,,,"Hypocalcemia, autosomal dominant",TRUE,FALSE,Active +GARD:2878,Active,Orphanet,ORPHA:101050,Subtype of disorder,[Etiological subtype],Familial hypocalciuric hypercalcemia type 3,[FHH type 3],,[600740],,,,,Familial hypocalciuric hypercalcemia type 3,TRUE,FALSE,Active +GARD:288,Active,Orphanet,ORPHA:2108,Disorder,[Malformation syndrome],Hallermann-Streiff syndrome,"[François dyscephalic syndrome, Oculomandibulofacial syndrome]","Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.",[234100],,,,,Hallermann-Streiff syndrome,TRUE,FALSE,Active +GARD:2882,Active,Orphanet,ORPHA:932,Disorder,[Disease],Achondrogenesis,,"A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.","[200610, 200600, 600972]",,,,,Achondrogenesis,TRUE,FALSE,Active +GARD:2883,Legacy,GARD,,,,,,,,,,,,Hypodermyasis,TRUE,FALSE,Active +GARD:2886,Legacy,GARD,,,,,,,,,,,,Hypodontia of incisors and premolars,TRUE,FALSE,Retired +GARD:2887,Active,Orphanet,ORPHA:101041,Subtype of disorder,[Clinical subtype],Familial hypofibrinogenemia,,Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.,[202400],,,,,"Hypofibrinogenemia, familial",TRUE,FALSE,Active +GARD:2889,Legacy,GARD,,,,,,,,,,,,Hypoglycemia with deficiency of glycogen synthetase in the liver,TRUE,FALSE,Active +GARD:2890,Legacy,GARD,,,,,,,,,,,,Hypogonadism cardiomyopathy,TRUE,FALSE,Retired +GARD:2893,Legacy,GARD,,,,,,,,,,,,Hypogonadism male mental retardation skeletal anomaly,TRUE,FALSE,Retired +GARD:2894,Legacy,GARD,,,,,,,,,,,,Hypogonadism mitral valve prolapse mental retardation,TRUE,FALSE,Retired +GARD:2895,Legacy,GARD,,,,,,,,,,,,Hypogonadism primary partial alopecia,TRUE,FALSE,Active +GARD:2897,Active,Orphanet+OMIM,OMIM:146110,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 7 with or without anosmia,"[Hypogonadism, isolated hypogonadotropic, idiopathic hypogonadotropic hypogonadism]","Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {17:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[146110],[432],[Normosmic congenital hypogonadotropic hypogonadism],[16533],,"Hypogonadism, isolated, hypogonadotropic",TRUE,FALSE,Active +GARD:2899,Legacy,GARD,,,,,,,,,,,,"Hypogonadotropic hypogonadism without anosmia, X-linked",TRUE,FALSE,Retired +GARD:29,Active,Orphanet,ORPHA:138,Disorder,[Malformation syndrome],CHARGE syndrome,"[CHARGE association, Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome, Hall-Hittner syndrome]","CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).",[214800],,,,,CHARGE syndrome,TRUE,FALSE,Active +GARD:290,Active,Orphanet,ORPHA:2109,Disorder,[Malformation syndrome],Hallermann-Streiff-like syndrome,"[Dennis-Fairhurst-Moore syndrome, Hallermann-Streiff-François syndrome, severe form, Severe Hallermann-Streiff-François syndrome]","A rare genetic bone development disorder characterized by multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull, and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth, and posteriorly angulated ears). Bilateral microphthalmia, cataracts, and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period. There have been no further descriptions in the literature since 1995.",,,,,,Dennis Fairhurst Moore syndrome,TRUE,FALSE,Retired +GARD:2905,Active,Orphanet,ORPHA:154,Disorder,[Disease],Familial isolated dilated cardiomyopathy,[Familial or idiopathic dilated cardiomyopathy],"A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.","[615396, 604145, 605582, 613881, 611615, 613424, 613286, 613642, 115200, 613694, 604765, 608569, 604288, 607482, 615184, 615235, 601493, 609915, 600884, 601494, 612877, 609909, 302045, 614672, 611407, 611878, 615916, 611879, 613252, 613426, 611880, 613172, 615248, 613122, 618189, 615373, 606685, 612158, 613697, 601154]",,,,,Familial dilated cardiomyopathy,TRUE,FALSE,Active +GARD:2906,Active,Orphanet,ORPHA:31043,Subtype of disorder,[Clinical subtype],Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,"[FHHNC without severe ocular involvement, HOMG3, Renal hypomagnesemia type 3]","Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.",[248250],,,,,Familial primary hypomagnesemia,TRUE,FALSE,Active +GARD:2907,Active,Orphanet,ORPHA:1790,Disorder,[Malformation syndrome],Hypomandibular faciocranial dysostosis,,"Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.",[241310],,,,,Hypomandibular faciocranial dysostosis,TRUE,FALSE,Active +GARD:2908,Active,Orphanet,ORPHA:2491,Disorder,[Malformation syndrome],Müllerian duct anomalies-limb anomalies syndrome,,"Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.",[146160],,,,,Hypomelia mullerian duct anomalies,TRUE,FALSE,Active +GARD:291,Legacy,GARD,,,,,,,,,,,,Spasticity multiple exostoses,TRUE,FALSE,Active +GARD:2910,Active,Orphanet,ORPHA:2238,Disorder,[Disease],Familial isolated hypoparathyroidism,,"Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.","[615361, 146200, 601198, 307700]",,,,,Familial isolated hypoparathyroidism,TRUE,FALSE,Active +GARD:2911,Active,Orphanet,ORPHA:2237,Disorder,[Malformation syndrome],Hypoparathyroidism-sensorineural deafness-renal disease syndrome,"[Barakat syndrome, HDR syndrome, Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome]","Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).",[146255],,,,,Barakat syndrome,TRUE,FALSE,Active +GARD:2913,Legacy,GARD,,,,,,,,,,,,Hypoparathyroidism short stature mental retardation,TRUE,FALSE,Retired +GARD:2914,Active,Orphanet+OMIM,OMIM:307700,Subtype of disorder,[Clinical subtype],"Hypoparathyroidism, x-linked",,,[307700],[2239],[Familial isolated hypoparathyroidism due to agenesis of parathyroid gland],[16589],,Hypoparathyroidism X-linked,TRUE,FALSE,Active +GARD:2917,Legacy,GARD,,,,,,,,,,,,Hypopituitarism,TRUE,FALSE,Active +GARD:2918,Legacy,GARD,,,,,,,,,,,,Hypopituitarism micropenis cleft lip palate,TRUE,FALSE,Retired +GARD:292,Active,Orphanet,ORPHA:2269,Disorder,[Disease],Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,[Jagell-Holmgren-Hofer syndrome],"Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.",[242510],,,,,Ichthyosis alopecia eclabion ectropion intellectual disability,TRUE,FALSE,Active +GARD:2920,Legacy,GARD,,,,,,,,,,,,Hypopituitarism postaxial polydactyly,TRUE,FALSE,Retired +GARD:2921,Legacy,GARD,,,,,,,,,,,,Hypoplasia hepatic ductular,TRUE,FALSE,Retired +GARD:2922,Active,Orphanet,ORPHA:98723,Group of disorders,[Clinical group],Hypoplastic right heart syndrome,,"A rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type (see this term). Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.",,,,,,Hypoplastic right heart syndrome,TRUE,FALSE,Active +GARD:2923,Legacy,GARD,,,,,,,,,,,,Hypoplastic thumb mullerian aplasia,TRUE,FALSE,Retired +GARD:2924,Legacy,GARD,,,,,,,,,,,,Hypoplastic thumbs hydranencephaly,TRUE,FALSE,Retired +GARD:2926,Active,Orphanet,ORPHA:325,Disorder,[Disease],Congenital factor II deficiency,"[Dysprothrombinemia, Hypoprothrombinemia, Prothrombin deficiency]","A rare inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous and soft tissue bleeding symptoms.",[613679],,,,,Prothrombin deficiency,TRUE,FALSE,Active +GARD:2927,Legacy,GARD,,,,,,,,,,,,Hyposmia nasal hypoplasia hypogonadism,TRUE,FALSE,Retired +GARD:2928,Active,Orphanet,ORPHA:2261,Disorder,[Malformation syndrome],"Hypospadias-intellectual disability, Goldblatt type syndrome",[Goldblatt-Wallis syndrome],"A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.",[241760],,,,,"Hypospadias-intellectual disability, Goldblatt type syndrome",TRUE,FALSE,Active +GARD:2929,Legacy,GARD,,,,,,,,,,,,Hypospadias familial,TRUE,FALSE,Active +GARD:293,Legacy,GARD,,,,,,,,,,,,Rodrigues blindness,TRUE,FALSE,Active +GARD:2930,Active,Orphanet,ORPHA:2353,Disorder,[Malformation syndrome],Schilbach-Rott syndrome,"[BRSS, Hypotelorism-cleft palate-hypospadias syndrome]","Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.",[164220],,,,,Hypotelorism cleft palate hypospadias,TRUE,FALSE,Active +GARD:2932,Legacy,GARD,,,,,,,,,,,,Hypothalamic dysfunction,TRUE,FALSE,Retired +GARD:2934,Legacy,GARD,,,,,,,,,,,,Hypothalamic hamartomas,TRUE,FALSE,Active +GARD:2938,Legacy,GARD,,,,,,,,,,,,Hypothyroidism due to iodide transport defect,TRUE,FALSE,Active +GARD:2939,Legacy,GARD,,,,,,,,,,,,Hypothyroidism postaxial polydactyly mental retardation,TRUE,FALSE,Retired +GARD:294,Legacy,GARD,,,,,,,,,,,,Enchondromatosis dwarfism deafness,TRUE,FALSE,Active +GARD:2940,Legacy,GARD,,,,,,,,,,,,Hypotonic sclerotic muscular dystrophy,TRUE,FALSE,Retired +GARD:2943,Active,Orphanet,ORPHA:206428,Group of disorders,[Clinical group],Hypoxanthine-guanine phosphoribosyltransferase deficiency,"[HPRT deficiency, HPRT1 deficiency, Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency]",Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.,,,,,,Hypoxanthine guanine phosphoribosyltransferase deficiency,TRUE,FALSE,Active +GARD:2944,Legacy,GARD,,,,,,,,,,,,IBIDS syndrome,TRUE,FALSE,Retired +GARD:2945,Active,Orphanet,ORPHA:2268,Disorder,[Malformation syndrome],ICF syndrome,[Immunodeficiency-centromeric instability-facial anomalies syndrome],"The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.","[616910, 614069, 242860, 616911]",,,,,ICF syndrome,TRUE,FALSE,Active +GARD:2946,Active,Orphanet+OMIM,OMIM:242150,Subtype of disorder,[Disease subtype],"Keratitis-ichthyosis-deafness syndrome, autosomal recessive","[kid syndrome, autosomal recessive, desmons syndrome, Ichthyosiform erythroderma, corneal involvement, and deafness]","Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) is characterized by neonatal-onset ichthyotic erythroderma and profound sensorineural deafness, with failure to thrive and developmental delay in childhood. Severe corneal scarring with vision loss has been observed in adulthood. Low plasma copper and ceruloplasmin levels have been reported in some patients ({1:Alsaif et al., 2019}; {2:Boyden et al., 2019}).\n\nAn autosomal dominant form of KID syndrome (KIDAD; {148210}) is caused by mutation in the GJB2 gene ({121011}) on chromosome 13q12.",[242150],[477],[KID syndrome],[3113],,"Ichthyosiform erythroderma, corneal involvement, deafness",TRUE,FALSE,Active +GARD:2947,Legacy,GARD,,,,,,,,,,,,Ichthyosis cheek eyebrow syndrome,TRUE,FALSE,Active +GARD:2948,Legacy,GARD,,,,,,,,,,,,Ichthyosis congenita biliary atresia,TRUE,FALSE,Active +GARD:2949,Legacy,GARD,,,,,,,,,,,,Ichthyosis deafness mental retardation skeletal anomaly,TRUE,FALSE,Retired +GARD:295,Legacy,GARD,,,,,,,,,,,,Nevo syndrome,TRUE,FALSE,Retired +GARD:2952,Active,Orphanet,ORPHA:2273,Disorder,[Disease],Ichthyosis follicularis-alopecia-photophobia syndrome,"[IFAP syndrome, Ichthyosis follicularis-atrichia-photophobia syndrome]","Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.","[619016, 308205]",,,,,Ichthyosis follicularis atrichia photophobia syndrome,TRUE,FALSE,Active +GARD:2954,Active,Orphanet,ORPHA:79503,Disorder,[Disease],Ichthyosis hystrix of Curth-Macklin,"[Ichthyosis hystrix, Curth-Macklin type]","Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term).",[146590],,,,,"Ichthyosis hystrix, Curth Macklin type",TRUE,FALSE,Active +GARD:2957,Legacy,GARD,,,,,,,,,,,,Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin,TRUE,FALSE,Retired +GARD:2958,Legacy,GARD,,,,,,,,,,,,Ichthyosis mental retardation dwarfism renal impairment,TRUE,FALSE,Retired +GARD:296,Active,Orphanet,ORPHA:2832,Disorder,[Malformation syndrome],Short tarsus-absence of lower eyelashes syndrome,[Lopes-Gorlin syndrome],Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.,[600269],,,,,Lopes Gorlin syndrome,TRUE,FALSE,Active +GARD:2960,Active,Orphanet,ORPHA:2272,Disorder,[Malformation syndrome],Ichthyosis-oral and digital anomalies syndrome,[Clayton Smith-Donnai syndrome],"Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.",[258840],,,,,Ichthyosis tapered fingers midline groove up,TRUE,FALSE,Active +GARD:2961,Legacy,GARD,,,,,,,,,,,,"Ichthyosis, erythrokeratolysis hemalis",TRUE,FALSE,Retired +GARD:2965,Legacy,GARD,,,,,,,,,,,,Ichthyosis and male hypogonadism,TRUE,FALSE,Retired +GARD:2966,Active,Orphanet,ORPHA:455,Disorder,[Disease],Superficial epidermolytic ichthyosis,"[Ichthyosis bullosa of Siemens, SEI]",Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.,[146800],,,,,Ichthyosis bullosa of Siemens,TRUE,FALSE,Active +GARD:2967,Legacy,GARD,,,,,,,,,,,,Ichthyosis linearis circumflexa,TRUE,FALSE,Active +GARD:2969,Legacy,GARD,,,,,,,,,,,,"Nystagmus 1, congenital, X- linked",TRUE,FALSE,Active +GARD:297,Legacy,GARD,,,,,,,,,,,,Lockwood Feingold syndrome,TRUE,FALSE,Retired +GARD:2970,Legacy,GARD,,,,,,,,,,,,Idiopathic diffuse interstitial fibrosis,TRUE,FALSE,Retired +GARD:2978,Active,Orphanet+OMIM,OMIM:601631,Subtype of disorder,[Morphological anomaly subtype],Anterior segment dysgenesis 3,"[iris hypoplasia with glaucoma, glaucoma iridogoniodysplasia, familial, Iridogoniodysgenesis, type 1, iridogoniodysgenesis anomaly, autosomal dominant]","Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {4:Cheong et al., 2016}).\n\nAnterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon ({6:Gould and John, 2002}).\n\nSome patients with ASGD3 have been reported with the following subtypes: iridogoniodysgenesis, Peters anomaly, Axenfeld anomaly, and Rieger anomaly.\n\nIridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by {16:Mears et al., 1996}).\n\nPeters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea ({22:Peters, 1906}).\n\nIn Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by {23:Smith and Traboulsi, 2012}).",[601631],"[91483, 98978]","[Axenfeld anomaly, Rieger anomaly]","[16485, 16482]",,Iridogoniodysgenesis type 1,TRUE,FALSE,Active +GARD:2979,Legacy,GARD,,,,,,,,,,,,Illum syndrome,FALSE,FALSE,Retired +GARD:298,Active,Orphanet,ORPHA:2410,Disorder,[Malformation syndrome],Hypergonadotropic hypogonadism-cataract syndrome,[Lubinsky syndrome],A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.,[240950],,,,,Lubinsky syndrome,TRUE,FALSE,Active +GARD:2981,Active,Orphanet+OMIM,OMIM:242670,Subtype of disorder,[Disease subtype],Ciliary dyskinesia with defective radial spokes,[Immotile cilia syndrome due to defective radial spokes],,[242670],[244],[Primary ciliary dyskinesia],[4484],,"Immotile cilia syndrome, due to defective radial spokes",TRUE,FALSE,Active +GARD:2982,Active,Orphanet+OMIM,OMIM:242680,Subtype of disorder,[Disease subtype],Ciliary dyskinesia with excessively long cilia,[Immotile cilia syndrome due to excessively long cilia],,[242680],[244],[Primary ciliary dyskinesia],[4484],,Ciliary dyskinesia with excessively long cilia,TRUE,FALSE,Active +GARD:2984,Active,Orphanet+OMIM,OMIM:146830,Subtype of disorder,[Disease subtype],"Immune deficiency, familial variable",,"{2:Rosen and Bougas (1963)} reported the case of a woman with recurrent infection, marked elevation of 19S gamma globulin, and virtual absence of 7S. {1:Feldman et al. (1975)} found that 12 relatives had a variable immunodeficiency. Ten had elevation of IgM, combined with deficiency of IgG and IgA in 3 and deficiency of one or the other in 2. Five had only elevated IgM and 2 had normal IgM but deficiency of IgG and IgA. No male-to-male transmission was observed.",[146830],[1572],[Common variable immunodeficiency],[6140],,"Immune deficiency, familial variable",TRUE,FALSE,Active +GARD:2986,Legacy,GARD,,,,,,,,,,,,"Immunodeficiency, microcephaly with normal intelligence",TRUE,FALSE,Retired +GARD:2988,Active,Orphanet,ORPHA:935,Disorder,[Disease],Short-limb skeletal dysplasia with severe combined immunodeficiency,"[Achondroplasia-SCID syndrome, Achondroplasia-Swiss type agammaglobulinemia syndrome, Achondroplasia-severe combined immunodeficiency syndrome, Immunodeficiency-short limb dwarfism syndrome, Short limb skeletal dysplasia with SCID]","An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.",[200900],,,,,Short-limb skeletal dysplasia with severe combined immunodeficiency,TRUE,FALSE,Active +GARD:2989,Active,Orphanet,ORPHA:2759,Disorder,[Malformation syndrome],Imperforate oropharynx-costovertebral anomalies syndrome,[Seghers syndrome],"Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.",,,,,,Imperforate oropharynx-costo vetebral anomalies,TRUE,FALSE,Active +GARD:299,Active,Orphanet,ORPHA:231556,Disorder,[Disease],Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,[Late-onset localized JEB-intellectual disability syndrome],"A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.",[226440],,,,,Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,TRUE,FALSE,Active +GARD:2992,Legacy,GARD,,,,,,,,,,,,Hypomelanosis of Ito,TRUE,FALSE,Active +GARD:2994,Legacy,GARD,,,,,,,,,,,,Fetal indomethacin syndrome,TRUE,FALSE,Active +GARD:2995,Active,Orphanet,ORPHA:1943,Disorder,[Disease],Early-onset progressive encephalopathy with migrant continuous myoclonus,,"A rare disorder characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown.",,,,,,Infant epilepsy with migrant focal crisis,TRUE,FALSE,Active +GARD:2996,Legacy,GARD,,,,,,,,,,,,Infantile axonal neuropathy,TRUE,FALSE,Active +GARD:2998,Active,Orphanet,ORPHA:2591,Disorder,[Disease],Infantile myofibromatosis,,"A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts.","[615293, 228550]",,,,,Infantile myofibromatosis,TRUE,FALSE,Active +GARD:3,Active,Orphanet,ORPHA:920,Disorder,[Malformation syndrome],Ablepharon macrostomia syndrome,,"An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.",[200110],,,,,Ablepharon macrostomia syndrome,TRUE,FALSE,Active +GARD:30,Legacy,GARD,,,,,,,,,,,,Cholecystitis,TRUE,FALSE,Active +GARD:3000,Legacy,GARD,,,,,,,,,,,,Infantile recurrent chronic multifocal osteomyelitis,TRUE,FALSE,Retired +GARD:30000,Draft,GARD,,Group of disorders,[Category],Rare to-be-classified GARD Diseases,,,,,,,,,,, +GARD:3002,Active,Orphanet,ORPHA:3173,Disorder,[Disease],Infantile spasms-broad thumbs syndrome,[Tsao-Ellingson syndrome],"Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.",,,,,,Infantile spasms broad thumbs,TRUE,FALSE,Active +GARD:3004,Legacy,GARD,,,,,,,,,,,,Infantile striato thalamic degeneration,TRUE,FALSE,Active +GARD:3005,Legacy,GARD,,,,,,,,,,,,Infundibulopelvic dysgenesis,TRUE,FALSE,Active +GARD:3006,Active,Orphanet,ORPHA:642,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 4,"[CIPA, Congenital insensitivity to pain with anhidrosis, HSAN4, Hereditary sensory and autonomic neuropathy type IV]","A rare hereditary sensory and autonomic neuropathy characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.",[256800],,,,,Congenital insensitivity to pain with anhidrosis,TRUE,FALSE,Active +GARD:3007,Active,Orphanet,ORPHA:1052,Disorder,[Malformation syndrome],Mosaic variegated aneuploidy syndrome,[Warburton-Anyane-Yeboa syndrome],Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.,"[257300, 617598, 614114]",,,,,Mosaic variegated aneuploidy syndrome,TRUE,FALSE,Active +GARD:3008,Active,Orphanet,ORPHA:2297,Disorder,[Disease],Insulin-resistance syndrome type A,,"Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.",[610549],,,,,"Insulin-resistant acanthosis nigricans, type A",TRUE,FALSE,Active +GARD:3009,Active,Orphanet,ORPHA:2298,Disorder,[Disease],Insulin-resistance syndrome type B,,A rare genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor.,,,,,,Insulin-resistance type B,TRUE,FALSE,Active +GARD:301,Legacy,GARD,,,,,,,,,,,,Generalized resistance to thyroid hormone,TRUE,FALSE,Active +GARD:3010,Active,Orphanet,ORPHA:97279,Disorder,[Disease],Insulinoma,,"A form of functioning pancreatic neuroendocrine tumor characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.",,,,,,Insulinoma,TRUE,FALSE,Active +GARD:3011,Legacy,GARD,,,,,,,,,,,,"Interferon gamma, receptor 1, deficiency",TRUE,FALSE,Active +GARD:3012,Active,Orphanet,ORPHA:981,Disorder,[Morphological anomaly],Internal carotid absence,,"Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography.",,,,,,Internal carotid agenesis,TRUE,FALSE,Active +GARD:3013,Active,Orphanet,ORPHA:2300,Disorder,[Morphological anomaly],Multiple intestinal atresia,[Familial intestinal polyatresia syndrome],"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.",[243150],,,,,Intestinal atresia multiple,TRUE,FALSE,Active +GARD:3017,Active,Orphanet+OMIM,OMIM:300048,Subtype of disorder,[Morphological anomaly subtype],"Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked","[ciip, x-linked, congenital idiopathic intestinal pseudoobstruction, Ipox, intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement]","Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion ({1:Auricchio et al., 1996}).\n\nSome primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy ({243180}) ({11:Tanner et al., 1976}).",[300048],[2301],[Congenital short bowel syndrome],[16592],,Intestinal pseudoobstruction neuronal chronic idiopathic X-linked,TRUE,FALSE,Active +GARD:3019,Legacy,GARD,,,,,,,,,,,,Intracranial aneurysms multiple congenital anomaly,TRUE,FALSE,Retired +GARD:302,Active,Orphanet,ORPHA:99749,Disorder,[Disease],Kostmann syndrome,"[Infantile agranulocytosis, Severe congenital neutropenia type 3]","Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.",[610738],,,,,Severe congenital neutropenia autosomal recessive 3,TRUE,FALSE,Active +GARD:3020,Active,Orphanet,ORPHA:46724,Disorder,[Morphological anomaly],Cerebral arteriovenous malformation,[Intracranial arteriovenous malformation],"Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.",[108010],,,,,Intracranial arteriovenous malformation,TRUE,FALSE,Active +GARD:3021,Legacy,GARD,,,,,,,,,,,,Intrathoracic kidney vertebral fusion,TRUE,FALSE,Retired +GARD:3022,Legacy,GARD,,,,,,,,,,,,Intrauterine growth retardation - mandibular malar hypoplasia,TRUE,FALSE,Retired +GARD:3023,Legacy,GARD,,,,,,,,,,,,Intrauterine infections,TRUE,FALSE,Retired +GARD:3024,Active,Orphanet,ORPHA:332,Disorder,[Disease],Congenital intrinsic factor deficiency,"[Congenital pernicious anemia, Gastric intrinsic factor deficiency, Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency, IFD, Intrinsic factor deficiency]",Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.,"[261000, 243320]",,,,,Intrinsic factor deficiency,TRUE,FALSE,Active +GARD:3025,Legacy,GARD,,,,,,,,,,,,Iodine antenatal exposure,TRUE,FALSE,Active +GARD:3026,Active,Orphanet+OMIM,OMIM:137600,Subtype of disorder,[Morphological anomaly subtype],Anterior segment dysgenesis 4,"[Iridogoniodysgenesis, type 2, iris hypoplasia with early-onset glaucoma, autosomal dominant, iridogoniodysgenesis syndrome]","Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {3:Cheong et al., 2016}).\n\nAnterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon ({5:Gould and John, 2002}).\n\nPatients with ASGD4 have been reported with iridogoniodysgenesis or Peters anomaly subtypes.\n\nIridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by {12:Mears et al., 1996}).\n\nPeters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea ({14:Peters, 1906}).",[137600],[91483],[Rieger anomaly],[16482],,Iridogoniodysgenesis type 2,TRUE,FALSE,Active +GARD:3027,Legacy,GARD,,,,,,,,,,,,Iris dysplasia hypertelorism deafness,TRUE,FALSE,Retired +GARD:3029,Legacy,GARD,,,,,,,,,,,,Ischiadic hypoplasia renal dysfunction immunodeficiency,TRUE,FALSE,Retired +GARD:303,Legacy,GARD,,,,,,,,,,,,Jeune syndrome situs inversus,TRUE,FALSE,Active +GARD:3030,Active,Orphanet,ORPHA:1509,Disorder,[Disease],Coxopodopatellar syndrome,"[Ischiopatellar dysplasia, SPS, Scott-Taor syndrome, Small patella syndrome]",Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.,[147891],,,,,Small patella syndrome,TRUE,FALSE,Active +GARD:3033,Active,Orphanet,ORPHA:472,Disorder,[Disease],Isosporiasis,[Cystoisosporiasis],"Isosporiasis (also known as cystoisosporiasis) is an exclusively human parasitosis occurring mainly in the tropics and subtropics, due to infection with Isospora belli (through ingestion of contaminated food), that is frequently asymptomatic or that can cause fever and diarrhea, but that is usually a self-limiting condition in the immunocompetent. HIV-positive individuals are particularly at risk of suffering from symptomatic isosporiasis and can manifest with a more severe clinical course of chronic diarrhea and severe weight loss.",,,,,,Cystoisosporiasis,TRUE,FALSE,Active +GARD:3036,Legacy,GARD,,,,,,,,,,,,Isthmian coarctation,TRUE,FALSE,Retired +GARD:304,Active,Orphanet,ORPHA:90340,Disorder,[Disease],Blau syndrome,,"Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.",[186580],,,,,Blau syndrome,TRUE,FALSE,Active +GARD:3040,Legacy,GARD,,,,,,,,,,,,Jaffer Beighton syndrome,TRUE,FALSE,Active +GARD:3044,Legacy,GARD,,,,,,,,,,,,Jankovic Rivera syndrome,TRUE,FALSE,Retired +GARD:3045,Active,Orphanet,ORPHA:228349,Subtype of disorder,[Etiological subtype],CLN2 disease,"[Classic late infantile NCL, Classic late infantile neuronal ceroid lipofuscinosis]",,[204500],,,,,Neuronal ceroid lipofuscinosis 2,TRUE,FALSE,Active +GARD:3046,Legacy,GARD,,,,,,,,,,,,Jensen syndrome,TRUE,FALSE,Retired +GARD:3047,Active,Orphanet,ORPHA:93314,Disorder,[Disease],"Spondylometaphyseal dysplasia, Kozlowski type",,"Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.",[184252],,,,,"Spondylometaphyseal dysplasia, Kozlowski type",TRUE,FALSE,Active +GARD:3048,Active,Orphanet,ORPHA:90647,Disorder,[Disease],Jervell and Lange-Nielsen syndrome,"[Long QT interval-deafness syndrome, Long QT interval-hearing loss syndrome]","A rare, severe, familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias.","[220400, 612347]",,,,,Jervell Lange-Nielsen syndrome,TRUE,FALSE,Active +GARD:3049,Active,Orphanet,ORPHA:474,Disorder,[Malformation syndrome],Jeune syndrome,"[Asphyxiating thoracic dystrophy of the newborn, JATD, Jeune asphyxiating thoracic dystrophy]","Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes.","[611263, 616300, 615633, 615630, 613819, 208500, 613091, 617088, 614376]",,,,,Jeune syndrome,TRUE,FALSE,Active +GARD:305,Active,Orphanet,ORPHA:3236,Disorder,[Malformation syndrome],Conductive deafness-ptosis-skeletal anomalies syndrome,"[Conductive hearing loss-ptosis-skeletal anomalies syndrome, Jackson-Barr syndrome]","Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.",[221320],,,,,Deafness conductive ptosis skeletal anomalies,TRUE,FALSE,Active +GARD:3050,Legacy,GARD,,,,,,,,,,,,Johnson Hall Krous syndrome,TRUE,FALSE,Retired +GARD:3051,Active,Orphanet,ORPHA:1112,Disorder,[Malformation syndrome],Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,[Johnson-Munson syndrome],"An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.",[207620],,,,,Johnson Munson syndrome,TRUE,FALSE,Active +GARD:3053,Active,Orphanet,ORPHA:1485,Disorder,[Malformation syndrome],"Arthrogryposis-hyperkeratosis syndrome, lethal form",[Johnston-Aarons-Schelley syndrome],"A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.",[208158],,,,,Johnston Aarons Schelley syndrome,TRUE,FALSE,Active +GARD:3054,Active,Orphanet,ORPHA:2295,Disorder,[Disease],Familial articular hypermobility syndrome,"[Familial joint instability syndrome, Familial joint laxity, Joint instability syndrome]","A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent.",[147900],,,,,Familial joint instability syndrome,TRUE,FALSE,Active +GARD:3055,Legacy,GARD,,,,,,,,,,,,Jones Hersh Yusk syndrome,TRUE,FALSE,Active +GARD:3056,Active,Orphanet,ORPHA:2027,Disorder,[Malformation syndrome],Gingival fibromatosis-progressive deafness syndrome,"[Gingival fibromatosis-progressive hearing loss syndrome, Jones syndrome]","A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.",[135550],,,,,Jones syndrome,TRUE,FALSE,Active +GARD:3057,Legacy,GARD,,,,,,,,,,,,Jorgenson Lenz syndrome,TRUE,FALSE,Active +GARD:306,Active,Orphanet,ORPHA:2848,Disorder,[Disease],Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,"[Arthropathy-camptodactyly syndrome, CACP syndrome, Jacobs syndrome, Pericarditis-arthropathy-camptodactyly syndrome]","A rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.",[208250],,,,,Camptodactyly arthropathy coxa vara pericarditis syndrome,TRUE,FALSE,Active +GARD:3060,Active,Orphanet,ORPHA:2319,Disorder,[Malformation syndrome],Juberg-Hayward syndrome,"[Cleft lip/palate-abnormal thumbs-microcephaly syndrome, Orocraniodigital syndrome]","Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.",[216100],,,,,Juberg-Hayward syndrome,TRUE,FALSE,Active +GARD:3061,Legacy,GARD,,,,,,,,,,,,Judge Misch Wright syndrome,TRUE,FALSE,Active +GARD:3062,Active,Orphanet,ORPHA:2321,Disorder,[Malformation syndrome],Jung syndrome,,"A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.",[601427],,,,,Jung Wolff Back Stahl syndrome,TRUE,FALSE,Active +GARD:3065,Active,Orphanet,ORPHA:2929,Disorder,[Disease],Juvenile polyposis syndrome,"[JIP, JPS, Juvenile gastrointestinal polyposis, Juvenile intestinal polyposis]",A rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.,"[175050, 174900, 612242]",,,,,Juvenile polyposis syndrome,TRUE,FALSE,Active +GARD:3066,Active,Orphanet,ORPHA:1573,Disorder,[Malformation syndrome],Hypotrichosis with juvenile macular degeneration,"[HJMD, Hypotrichosis with juvenile macular dystrophy]",Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.,[601553],,,,,Juvenile macular degeneration and hypotrichosis,TRUE,FALSE,Active +GARD:3067,Legacy,GARD,,,,,,,,,,,,Juvenile idiopathic arthritis,FALSE,FALSE,Active +GARD:3068,Active,Orphanet,ORPHA:26137,Disorder,[Disease],Juvenile temporal arteritis,"[JTA, Non-giant cell granulomatous temporal arteritis with eosinophilia]","Juvenile temporal arteritis (JTA) is an extremely uncommon vasculitis of unknown etiology. Eleven documented cases have been reported in the literature, affecting older children and young adults. In contrast to the classic form of temporal arteritis, it is not a systemic disease nor does it cause local symptoms at the temporal area. The term JTA was coined by Lie and his colleagues, in 1975, when they reported four cases of an otherwise asymptomatic disease presenting with a painless nodule at the temporal region. None of the cases showed evidence of systemic disease or history of trauma to the temporal region. Excisional biopsy of the lesions revealed a non-giant cell granulomatous inflammation of the temporal arteries with eosinophilic infiltration, intimal proliferation and microaneurysmal disruption of the media. JTA has a benign clinical course, is treated by surgical excision and does not recur.",,,,,,Juvenile temporal arteritis,TRUE,FALSE,Active +GARD:307,Active,Orphanet,ORPHA:2308,Disorder,[Malformation syndrome],Jacobsen syndrome,"[11q terminal deletion syndrome, Del(11)(q23.3), Del(11)(qter), Distal deletion 11q, Distal monosomy 11q, Monosomy 11qter, Telomeric deletion 11q]","A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.",[147791],,,,,Jacobsen syndrome,TRUE,FALSE,Active +GARD:3070,Active,Orphanet+OMIM,OMIM:147950,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 2 with or without anosmia,[Kallmann syndrome 2],"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {34:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nAlthough HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction ({44:Sykiotis et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without Anosmia\n\nOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 ({244200}), caused by mutation in the PROKR2 gene ({607123}); HH4 ({610628}), caused by mutation in the PROK2 gene ({607002}); HH5 ({612370}), caused by mutation in the CHD7 gene ({608892}); HH6 ({612702}), caused by mutation in the FGF8 gene ({600483}); HH7 ({146110}), caused by mutation in the GNRHR gene ({138850}); HH8 ({614837}), caused by mutation in the KISS1R gene ({604161}); HH9 ({614838}), caused by mutation in the NELF gene ({608137}); HH10 ({614839}), caused by mutation in the TAC3 gene ({162330}); HH11 ({614840}), caused by mutation in the TACR3 gene ({162332}); HH12 ({614841}), caused by mutation in the GNRH1 gene ({152760}); HH13 ({614842}), caused by mutation in the KISS1 gene ({603286}); HH14 ({614858}), caused by mutation in the WDR11 gene ({606417}); HH15 ({614880}), caused by mutation in the HS6ST1 gene ({604846}); HH16 ({614897}), caused by mutation in the SEMA3A gene ({603961}); HH17 ({615266}), caused by mutation in the SPRY4 gene ({607984}); HH18 ({615267}), caused by mutation in the IL17RD gene ({606807}); HH19 ({615269}), caused by mutation in the DUSP6 gene ({602748}); HH20 ({615270}), caused by mutation in the FGF17 gene ({603725}); HH21 ({615271}), caused by mutation in the FLRT3 gene ({604808}); HH22 ({616030}), caused by mutation in the FEZF1 gene ({613301}); HH23 ({228300}), caused by mutation in the LHB gene ({152780}); HH24 ({229070}), caused by mutation in the FSHB gene ({136530}); HH25 ({618841}), caused by mutation in the NDNF gene ({616506}); and HH26 ({619718}), caused by mutation in the TCF12 gene.\n\nThere is also an X-linked form of the disorder (HH1; {308700}), caused by mutation in the KAL1 gene ({300836}).\n\nThere is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by {8:Chan, 2011}). {44:Sykiotis et al. (2010)}, for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.\n\n<Subhead> Reviews\n\n{49:Valdes-Socin et al. (2014)} reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.\n\n{54:Young et al. (2019)} reviewed the genetics, diagnosis, and clinical management of patients with congenital hypogonadotropic hypogonadism.",[147950],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 2,TRUE,FALSE,Active +GARD:3071,Active,Orphanet+OMIM,OMIM:308700,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 1 with or without anosmia,"[anosmic hypogonadism, dysplasia olfactogenitalis of de morsier, kms, hypogonadotropic hypogonadism and anosmia, Kallmann syndrome 1]","Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {38:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'\n\nFor information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[308700],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 1,TRUE,FALSE,Active +GARD:3073,Active,Orphanet+OMIM,OMIM:244200,Subtype of disorder,[Clinical subtype],Hypogonadotropic hypogonadism 3 with or without anosmia,,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {4:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.",[244200],"[478, 432]","[Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism]","[10771, 16533]",,Kallmann syndrome 3,TRUE,FALSE,Active +GARD:3074,Active,Orphanet,ORPHA:1836,Disorder,[Malformation syndrome],"Mesomelic dysplasia, Kantaputra type","[Kantaputra mesomelic dysplasia, MDK, Mesomelic dysplasia, Thai type]",Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.,"[613681, 156232]",,,,,Mesomelic dysplasia Kantaputra type,TRUE,FALSE,Active +GARD:3075,Active,Orphanet,ORPHA:949,Disorder,[Malformation syndrome],Acrocraniofacial dysostosis,[Kaplan-Plauchu-Fitch syndrome],"A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.",[201050],,,,,Kaplan Plauchu Fitch syndrome,TRUE,FALSE,Active +GARD:3076,Legacy,GARD,,,,,,,,,,,,Kaplowitz Bodurtha syndrome,TRUE,FALSE,Retired +GARD:3077,Active,Orphanet,ORPHA:2122,Disorder,[Disease],Kaposiform hemangioendothelioma,,A rare low-grade malignant cutaneous or visceral vascular tumour that may be associated with severe thrombopaenia with consumption coagulopathy (Kasabach-Merritt syndrome) in pediatric patients.,,,,,,Kaposiform Hemangioendothelioma,TRUE,FALSE,Active +GARD:3078,Active,Orphanet,ORPHA:2328,Disorder,[Malformation syndrome],Kapur-Toriello syndrome,"[Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome]","Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.",[244300],,,,,Kapur Toriello syndrome,TRUE,FALSE,Active +GARD:308,Legacy,GARD,,,,,,,,,,,,Pachyonychia congenita type 1,TRUE,FALSE,Retired +GARD:3080,Legacy,GARD,,,,,,,,,,,,Kasznica Carlson Coppedge syndrome,TRUE,FALSE,Active +GARD:3081,Legacy,GARD,,,,,,,,,,,,Katsantoni Papadakou Lagoyanni syndrome,TRUE,FALSE,Active +GARD:3082,Legacy,GARD,,,,,,,,,,,,"Short stature, cranial hyperostosis, hepatomegaly and diabetes",TRUE,FALSE,Retired +GARD:3084,Active,Orphanet,ORPHA:2707,Disorder,[Malformation syndrome],"Oculocerebrofacial syndrome, Kaufman type",,"A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities.",[244450],,,,,Kaufman oculocerebrofacial syndrome,TRUE,FALSE,Active +GARD:3086,Active,Orphanet,ORPHA:991,Disorder,[Malformation syndrome],PAGOD syndrome,[Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome],"PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.",[202660],,,,,PAGOD syndrome,TRUE,FALSE,Active +GARD:3087,Legacy,GARD,,,,,,,,,,,,Kennerknecht Vogel syndrome,TRUE,FALSE,Retired +GARD:3089,Active,Orphanet,ORPHA:2334,Disorder,[Disease],Autosomal dominant keratitis,[Hereditary keratitis],"Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.",[148190],,,,,Hereditary keratitis,TRUE,FALSE,Active +GARD:309,Legacy,GARD,,,,,,,,,,,,Fibromatosis multiple non ossifying,TRUE,FALSE,Active +GARD:3090,Active,Orphanet,ORPHA:65748,Disorder,[Disease],Multiple self-healing squamous epithelioma,"[Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type, Ferguson-Smith disease, MSSE, Multiple keratoacanthoma, Ferguson-Smith type, Self-healing squamous epithelioma type 1]",Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.,[132800],,,,,Multiple self healing squamous epithelioma,TRUE,FALSE,Active +GARD:3091,Legacy,GARD,,,,,,,,,,,,Keratoconus posticus circumscriptus,TRUE,FALSE,Active +GARD:3092,Active,Orphanet,ORPHA:494,Disorder,[Disease],Keratoderma hereditarium mutilans,"[Mutilating keratoderma of Vohwinkel, Mutilating keratoderma plus deafness, Mutilating keratoderma plus hearing loss, PPK mutilans and deafness, PPK mutilans and hearing loss, Vohwinkel syndrome]","Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.",[124500],,,,,Vohwinkel syndrome,TRUE,FALSE,Active +GARD:3094,Active,Orphanet,ORPHA:2202,Disorder,[Disease],Palmoplantar keratoderma-deafness syndrome,"[PPK-deafness syndrome, Palmoplantar hyperkeratosis-deafness syndrome, Palmoplantar hyperkeratosis-hearing loss syndrome, Palmoplantar keratoderma-hearing loss syndrome]","Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.",[148350],,,,,Keratoderma palmoplantar deafness,TRUE,FALSE,Active +GARD:3095,Active,Orphanet,ORPHA:2201,Disorder,[Disease],Palmoplantar keratoderma-spastic paralysis syndrome,"[Palmoplantar hyperkeratosis-spastic paralysis syndrome, Powell-Venencie-Gordon syndrome]","A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.",[148360],,,,,Keratoderma palmoplantar spastic paralysis,TRUE,FALSE,Active +GARD:3096,Active,Orphanet,ORPHA:495,Disorder,[Disease],Transgrediens et progrediens palmoplantar keratoderma,"[Greither disease, Keratosis extremitatum hereditaria progrediens, Keratosis palmoplantaris transgrediens et progrediens, Progressive diffuse PPK, Progressive diffuse palmoplantar keratoderma, Transgrediens et progrediens PPK]","A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles' tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen.",[133200],,,,,Keratoderma palmoplantaris transgrediens,TRUE,FALSE,Active +GARD:3098,Active,Orphanet,ORPHA:2200,Disorder,[Disease],Focal palmoplantar and gingival keratoderma,[Focal palmoplantar and gingival hyperkeratosis],"Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.",[148730],,,,,Focal palmoplantar and gingival keratoderma,TRUE,FALSE,Active +GARD:3099,Active,Orphanet,ORPHA:2339,Disorder,[Malformation syndrome],Keratosis follicularis-dwarfism-cerebral atrophy syndrome,,"A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.",[308830],,,,,Keratosis follicularis dwarfism and cerebral atrophy,TRUE,FALSE,Active +GARD:31,Active,Orphanet,ORPHA:35686,Disorder,[Disease],Serpiginous choroiditis,[Geographic helicoid peripapillary choroidopathy],"A rare non-infectious posterior uveitis characterized by usually bilateral, chronic, progressive, recurrent inflammation of the choroid, retinal pigment epithelium, and choriocapillaris. In the classic or peripapillary geographic type of the disease, infiltrates originating in the peripapillary region progress in an irregular serpentine fashion centrifugally and resolve spontaneously after several weeks, leaving atrophic scars. Multiple recurrences, often with months to years of quiescence in between, result in progressive visual loss in one or both eyes.",,,,,,Serpiginous choroiditis,TRUE,FALSE,Active +GARD:310,Active,Orphanet,ORPHA:3474,Disorder,[Malformation syndrome],CHIME syndrome,"[Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome, Congenital disorder of glycosylation due to PIGL deficiency, Neuroectodermal dysplasia, CHIME type, Neuroectodermal syndrome, Zunich type, PIGL-CDG, Zunich-Kaye syndrome]","CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.",[280000],,,,,Zunich neuroectodermal syndrome,TRUE,FALSE,Active +GARD:3100,Active,Orphanet,ORPHA:678,Disorder,[Disease],Papillon-Lefèvre syndrome,"[Keratosis palmoplantar-periodontopathy syndrome, PLS]",Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.,[245000],,,,,Papillon Lefevre syndrome,TRUE,FALSE,Active +GARD:3101,Legacy,GARD,,,,,,,,,,,,Keratosis palmoplantaris adenocarcinoma of the colon,TRUE,FALSE,Retired +GARD:3102,Active,Orphanet,ORPHA:2198,Disorder,[Disease],Palmoplantar keratoderma-esophageal carcinoma syndrome,"[Bennion-Patterson syndrome, Howell-Evans syndrome, Keratosis palmoplantaris-esophageal carcinoma syndrome, Palmoplantar hyperkeratosis-esophageal carcinoma syndrome, Tylosis-oesophageal carcinoma syndrome]","A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection.",[148500],,,,,Tylosis with esophageal cancer,TRUE,FALSE,Active +GARD:3103,Active,Orphanet,ORPHA:79501,Disorder,[Disease],Punctate palmoplantar keratoderma type 1,"[Buschke-Fischer-Brauer syndrome, Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type, PPKP1]","Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..","[614936, 148600]",,,,,Punctate palmoplantar keratoderma type I,TRUE,FALSE,Active +GARD:3105,Active,Orphanet,ORPHA:28378,Disorder,[Disease],Tyrosinemia type 2,"[Keratosis palmoplantaris-corneal dystrophy syndrome, Oculocutaneous tyrosinemia, Richner-Hanhart syndrome, Tyrosinemia due to TAT deficiency, Tyrosinemia due to tyrosine aminotransferase deficiency, Tyrosinemia type II]","Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.",[276600],,,,,Tyrosinemia type 2,TRUE,FALSE,Active +GARD:3108,Legacy,GARD,,,,,,,,,,,,Seborrheic keratosis,FALSE,FALSE,Active +GARD:3109,Active,Orphanet,ORPHA:499,Disorder,[Disease],Kerion celsi,,"A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.",,,,,,Kerion celsi,TRUE,FALSE,Active +GARD:311,Legacy,GARD,,,,,,,,,,,,Saal Bulas syndrome,TRUE,FALSE,Active +GARD:3112,Active,Orphanet,ORPHA:98841,Disorder,[Disease],Anaplastic large cell lymphoma,"[ALCL, CD30 positive anaplastic large cell lymphoma, Ki-1 positive anaplastic large cell lymphoma, Primary systemic ALCL, sACL]","A rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.",,,,,,Anaplastic large cell lymphoma,TRUE,FALSE,Active +GARD:3113,Active,Orphanet,ORPHA:477,Disorder,[Disease],KID syndrome,"[Ichthyosis hystrix Rheydt type, KID/HID syndrome, Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome, Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome, Senter syndrome]","A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.","[602540, 148210, 242150]",,,,,KID syndrome,TRUE,FALSE,Active +GARD:3115,Legacy,GARD,,,,,,,,,,,,Kleeblattschaedel syndrome,TRUE,FALSE,Active +GARD:3117,Active,Orphanet,ORPHA:33543,Disorder,[Disease],Kleine-Levin syndrome,,Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.,[148840],,,,,Kleine Levin syndrome,TRUE,FALSE,Active +GARD:3118,Active,Orphanet,ORPHA:2110,Disorder,[Malformation syndrome],Hallux varus-preaxial polysyndactyly syndrome,[Kleiner-Holmes syndrome],"Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.",[234280],,,,,Kleiner Holmes syndrome,TRUE,FALSE,Active +GARD:312,Active,Orphanet,ORPHA:97360,Disorder,[Malformation syndrome],Robinow syndrome,"[Acral dysostosis with facial and genital abnormalities, Fetal face syndrome, Mesomelic dwarfism-small genitalia syndrome, Robinow dwarfism, Robinow-Silverman-Smith syndrome]","Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.","[268310, 616331, 616894, 180700]",,,,,Robinow syndrome,TRUE,FALSE,Active +GARD:3122,Active,Orphanet,ORPHA:2346,Group of disorders,[Clinical group],Angioosteohypertrophic syndrome,[Klippel-Trénaunay-Weber syndrome],"A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.","[608354, 149000]",,,,,Klippel-Trenaunay syndrome,TRUE,FALSE,Active +GARD:3123,Legacy,GARD,,,,,,,,,,,,Klumpke paralysis,TRUE,FALSE,Active +GARD:3124,Active,Orphanet,ORPHA:2347,Disorder,[Malformation syndrome],Lethal Kniest-like dysplasia,,"A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.",[245190],,,,,Kniest like dysplasia lethal,TRUE,FALSE,Active +GARD:3125,Active,Orphanet,ORPHA:2698,Disorder,[Disease],Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,"[Bart-Pumphrey syndrome, Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome, Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome, Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome]","A rare, syndromic genetic deafness disease characterized by symmetric or asymmetirc knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.",[149200],,,,,"Knuckle pads, leuconychia and sensorineural deafness",TRUE,FALSE,Active +GARD:3126,Active,Orphanet,ORPHA:2348,Disorder,[Disease],"Familial partial lipodystrophy, Dunnigan type","[Dunnigan syndrome, FPLD2, Familial partial lipodystrophy type 2]","A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.",[151660],,,,,Familial partial lipodystrophy type 2,TRUE,FALSE,Active +GARD:3128,Active,Orphanet,ORPHA:1946,Disorder,[Malformation syndrome],Amelocerebrohypohidrotic syndrome,"[Epilepsy-dementia-amelogenesis imperfecta syndrome, Kohlschütter-Tönz syndrome]","A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.",[226750],,,,,Kohlschutter Tonz syndrome,TRUE,FALSE,Active +GARD:3129,Active,Orphanet,ORPHA:3197,Disorder,[Disease],Hereditary hyperekplexia,"[Congenital stiff man syndrome, Familial startle disease, Hereditary hyperexplexia, Kok disease, Stiff baby syndrome]",Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.,"[149400, 618011, 614618, 614619]",,,,,Hereditary hyperekplexia,TRUE,FALSE,Active +GARD:313,Legacy,GARD,,,,,,,,,,,,Sabinas brittle hair syndrome,TRUE,FALSE,Active +GARD:3130,Legacy,GARD,,,,,,,,,,,,Konigsmark Knox Hussels syndrome,TRUE,FALSE,Retired +GARD:3131,Legacy,GARD,,,,,,,,,,,,Koone Rizzo Elias syndrome,TRUE,FALSE,Active +GARD:3134,Legacy,GARD,,,,,,,,,,,,Kotzot-Richter syndrome,TRUE,FALSE,Active +GARD:3136,Legacy,GARD,,,,,,,,,,,,Kozlowski Brown Hardwick syndrome,TRUE,FALSE,Active +GARD:3137,Legacy,GARD,,,,,,,,,,,,Kozlowski Celermajer Tink syndrome,TRUE,FALSE,Retired +GARD:3139,Legacy,GARD,,,,,,,,,,,,Kozlowski Ouvrier syndrome,TRUE,FALSE,Active +GARD:314,Active,Orphanet,ORPHA:3124,Disorder,[Disease],Saccharopinuria,"[Hyperlysinemia type II, Saccharopine dehydrogenase deficiency]",Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.,[268700],,,,,Saccharopinuria,TRUE,FALSE,Active +GARD:3140,Legacy,GARD,,,,,,,,,,,,Kozlowski Rafinski Klicharska syndrome,TRUE,FALSE,Active +GARD:3141,Active,Orphanet,ORPHA:3082,Disorder,[Malformation syndrome],Intellectual disability-polydactyly-uncombable hair syndrome,[Kozlowski-Krajewska syndrome],"Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.",,,,,,Kozlowski-Krajewska syndrome,TRUE,FALSE,Active +GARD:3143,Legacy,GARD,,,,,,,,,,,,Krauss Herman Holmes syndrome,TRUE,FALSE,Active +GARD:3144,Legacy,GARD,,,,,,,,,,,,Krieble Bixler syndrome,TRUE,FALSE,Active +GARD:3149,Legacy,GARD,,,,,,,,,,,,Kurczynski Casperson syndrome,TRUE,FALSE,Retired +GARD:315,Legacy,GARD,,,,,,,,,,,,Sackey Sakati Aur syndrome,TRUE,FALSE,Active +GARD:3150,Active,Orphanet,ORPHA:1149,Disorder,[Malformation syndrome],Kuskokwim syndrome,"[Arthrogryposis-like syndrome, Kuskokwim disease]","A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.",[259450],,,,,Kuskokwim disease,TRUE,FALSE,Active +GARD:3151,Legacy,GARD,,,,,,,,,,,,Kuster Majewski Hammerstein syndrome,TRUE,FALSE,Retired +GARD:3152,Legacy,GARD,,,,,,,,,,,,Kuster syndrome,TRUE,FALSE,Active +GARD:3157,Legacy,GARD,,,,,,,,,,,,Lachiewicz Sibley syndrome,TRUE,FALSE,Active +GARD:3159,Active,Orphanet,ORPHA:2364,Disorder,[Disease],Glycogen storage disease due to lactate dehydrogenase deficiency,"[GSD due to lactate dehydrogenase deficiency, Glycogenosis due to lactate dehydrogenase deficiency, LDH deficiency]","A rare genetic glycogen storage disease characterized by either lactate dehydrogenase (LDH) M- or H-subunit deficiency. Main features of LDH M-subunit deficiency are exertional fatigue and muscle pain potentially accompanied by myoglobinuria. Some patients may develop pustular psoriasis-like skin lesions. Complications of pregnancy, such as frequent abdominal pains and increased uterine tone with a risk of dystocia have also been described. LDH H-subunit deficiency manifests with low serum LDH activity of unclear clinical relevance.","[612933, 614128]",,,,,Lactate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:3160,Active,Orphanet,ORPHA:284426,Subtype of disorder,[Clinical subtype],Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,"[GSD due to lactate dehydrogenase M-subunit deficiency, Glycogenosis due to lactate dehydrogenase M-subunit deficiency, LDH-M subunit deficiency, Lactate dehydrogenase A deficiency]","A rare glycogen storage disease characterized by easy fatigue, exertional myalgia, painful muscle stiffness, and cramps, with or without myoglobinuria. Pustular psoriasis-like eruptions with antecedent annular scaly plaques may be observed in some patients. In affected women, pregnancy may be complicated by abdominal pain and dystocia.",[612933],,,,,Lactate dehydrogenase A deficiency,TRUE,FALSE,Active +GARD:3161,Active,Orphanet,ORPHA:284435,Subtype of disorder,[Clinical subtype],Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,"[GSD due to lactate dehydrogenase H-subunit deficiency, Glycogenosis due to lactate dehydrogenase H-subunit deficiency, LDH-H subunit deficiency, Lactate dehydrogenase B deficiency]",,[614128],,,,,Lactate dehydrogenase B deficiency,TRUE,FALSE,Active +GARD:3162,Legacy,GARD,,,,,,,,,,,,Lactate dehydrogenase deficiency type C,TRUE,FALSE,Retired +GARD:3163,Active,Orphanet,ORPHA:17,Disorder,[Disease],Fatal infantile lactic acidosis with methylmalonic aciduria,,"Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.",[245400],,,,,Lactic acidosis congenital infantile,TRUE,FALSE,Active +GARD:3167,Legacy,GARD,,,,,,,,,,,,Lagophthalmia cleft lip palate,TRUE,FALSE,Retired +GARD:3168,Legacy,GARD,,,,,,,,,,,,Lambdoid synostosis,TRUE,FALSE,Active +GARD:3169,Active,Orphanet,ORPHA:1296,Disorder,[Malformation syndrome],Lambert syndrome,[Branchial dysplasia-intellectual disability-inguinal hernia syndrome],"A very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.",[245550],,,,,Lambert syndrome,TRUE,FALSE,Active +GARD:317,Legacy,GARD,,,,,,,,,,,,Sacral hemangiomas multiple congenital abnormalities,TRUE,FALSE,Active +GARD:3170,Active,Orphanet+OMIM,OMIM:242300,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 1","[lamellar exfoliation of newborn, collodion fetus, Ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution, ichthyosis congenita ii, collodion baby, self-healing, ichthyosis congenita, desquamation of newborn, ichthyosis, lamellar, 1, formerly]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {17:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({32:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {16:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {26:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {14:Eckl et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Congenital Ichthyosis\n\nAutosomal recessive congenital ichthyosis-2 (ARCI2; {242100}) is caused by mutation in the ALOX12B gene ({603741}) on chromosome 17p13. ARCI3 ({606545}) is caused by mutation in the ALOXE3 gene ({607206}) on chromosome 17p13. ARCI4A ({601277}) and ARCI4B (harlequin ichthyosis; {242500}) are caused by mutation in the ABCA12 gene ({607800}) on chromosome 2q35. ARCI5 ({604777}) is caused by mutation in the CYP4F22 gene ({611495}) on chromosome 19p13. ARCI6 ({612281}) is caused by mutation in the NIPAL4 gene (ichthyin; {609383}) on chromosome 5q33. ARCI7 ({615022}) has been mapped to chromosome 12p11. ARCI8 ({613943}) is caused by mutation in the LIPN gene ({613924}) on chromosome 10q23. ARCI9 ({615023}) is caused by mutation in the CERS3 gene ({615276}) on chromosome 15q26. ARCI10 ({615024}) is caused by mutation in the PNPLA1 gene ({612121}) on chromosome 6p21. ARCI11 ({602400}) is caused by mutation in the ST14 gene ({606797}) on chromosome 11q24. ARCI12 ({617320}) is caused by mutation in the CASP14 gene ({605848}) on chromosome 19p13. ARCI13 ({617574}) is caused by mutation in the SDR9C7 gene ({609769}) on chromosome 12q13. ARCI14 ({617571}) is caused by mutation in the SULT2B1 gene ({604125}) on chromosome 19q13.\n\nIchthyosis prematurity syndrome ({608649}) is a self-improving form of ichthyosis that includes respiratory complications at birth and persistent eosinophilia and is caused by mutation in the FATP4 (SLC27A4; {604194}) gene. A rare syndromic form of NCIE, Chanarin-Dorfman syndrome ({275630}), is caused by mutation in the ABHD5 gene ({604780}).",[242300],[313],[Lamellar ichthyosis],[10803],,Ichthyosis lamellar 1,TRUE,FALSE,Active +GARD:3172,Legacy,GARD,,,,,,,,,,,,Landy-Donnai syndrome,TRUE,FALSE,Active +GARD:3174,Legacy,GARD,,,,,,,,,,,,Langer Nishino Yamaguchi syndrome,TRUE,FALSE,Active +GARD:3176,Legacy,GARD,,,,,,,,,,,,Laparoschisis,TRUE,FALSE,Retired +GARD:3177,Legacy,GARD,,,,,,,,,,,,Laplane Fontaine Lagardere syndrome,TRUE,FALSE,Retired +GARD:3178,Active,Orphanet,ORPHA:544,Group of disorders,[Clinical group],Diffuse large B-cell lymphoma,[DLBCL],"Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL; see this term) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.",,,,,,Diffuse Large B-Cell Lymphoma,TRUE,FALSE,Active +GARD:3181,Active,Orphanet,ORPHA:2371,Disorder,[Malformation syndrome],Lethal Larsen-like syndrome,,"A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.",[245650],,,,,Larsen-like syndrome,TRUE,FALSE,Active +GARD:3183,Legacy,GARD,,,,,,,,,,,,"Larsen syndrome, dominant type",TRUE,FALSE,Retired +GARD:3184,Legacy,GARD,,,,,,,,,,,,"Larsen syndrome, recessive type",TRUE,FALSE,Retired +GARD:3186,Legacy,GARD,,,,,,,,,,,,Laryngeal abductor paralysis mental retardation,TRUE,FALSE,Retired +GARD:3188,Active,Orphanet,ORPHA:2004,Disorder,[Morphological anomaly],Laryngotracheoesophageal cleft,"[LC, LTEC, Laryngo-tracheo-esophageal cleft, Laryngo-tracheo-esophageal diastema]","A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.",[215800],,,,,Laryngeal cleft,TRUE,FALSE,Active +GARD:319,Active,Orphanet,ORPHA:494421,Subtype of disorder,[Clinical subtype],Sacrococcygeal teratoma,,,,,,,,Sacrococcygeal Teratoma,TRUE,FALSE,Active +GARD:3191,Active,Orphanet,ORPHA:2372,Disorder,[Malformation syndrome],Laryngocele,,"A rare congenital laryngeal anomaly characterized by an abnormal dilation of the laryngeal saccule that is filled with air, maintains communication with the laryngeal lumen, and is either confined to the false vocal fold or extends upward, protruding through the thyrohyoid membrane to the neck. Symptoms may include cough, hoarseness, stridor, sore throat and uni- or bilateral swelling of the neck. Blockage of the laryngocele neck can result isn laryngomucocele, and forms laryngopyocele when infected.",,,,,,Laryngocele,TRUE,FALSE,Active +GARD:3192,Legacy,GARD,,,,,,,,,,,,"Larynx, congenital partial atresia of",TRUE,FALSE,Active +GARD:3194,Active,Orphanet,ORPHA:1202,Disorder,[Malformation syndrome],Larynx atresia,,"A rare larynx anomaly characterized by complete absence of the laryngeal lumen resulting in congenital upper airway obstruction syndrome which, without fetal or neonatal intervention, is incompatible with life. Fetal sonography shows a dilated trachea, hyperechoic lungs, pleural effusion, minimal fetal abdominal ascites or hydrops, and amniotic fluid abnormalities.",[150300],,,,,Larynx atresia,TRUE,FALSE,Active +GARD:3195,Active,Orphanet,ORPHA:505,Disorder,[Disease],Graham Little-Piccardi-Lassueur syndrome,"[Graham Little syndrome, Piccardi-Lassueur-Little syndrome]","A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.",,,,,,Graham-Little-Piccardi-Lassueur syndrome,TRUE,FALSE,Active +GARD:3196,Active,Orphanet+OMIM,OMIM:180020,Subtype of disorder,[Disease subtype],Retinal cone dystrophy 1,,"{5:Krill et al. (1973)} defined an autosomal dominant form of diffuse cone degeneration. The findings of electroretinogram were distinctive. Progressive loss of visual acuity, photophobia, and defective color vision are the major complaints. Unlike retinitis pigmentosa ({180100}), loss of side vision and night blindness are rare complaints. The most common macular lesion has a bull's eye appearance produced by a central area of uninvolved epithelium. {5:Krill et al. (1973)} published pedigrees of extensively affected families. The patients may be mislabelled as total colorblindness. {1:Berson et al. (1968)}, {2:Davis and Hollenhorst (1955)}, {6:Sloan and Brown (1962)}, and others have reported families. {8:Warburg (1989)} reasoned that patients with mental retardation and retinal cone dystrophy might have visible chromosomal abnormalities. From the study of such patients and correlations with patients previously reported, {8:Warburg (1989)} concluded that a gene that causes retinal cone dystrophy is located in the region 6q25-q26. {7:Tranebjaerg et al. (1986)} described the case of a 6-year-old boy with cone dystrophy, mental retardation, facial dysmorphism, and short neck, hands and feet in whom a t(1;6)(q44;q27) was identified. This was said to be the first description of retinal cone dystrophy with a chromosomal aberration.\n\n{9:Went et al. (1992)} described an autosomal dominant cone dystrophy spanning 7 generations in a Dutch family. The onset of decline of visual acuity was after age 20; a nearly complete absence of blue-cone function developed before any abnormalities in visual acuity were detected by funduscopy, ERG, visual fields or fluorescein angiography.\n\nIn 10 patients with cone dystrophy, {3:Holopigian et al. (2004)} evaluated rod and cone photoreceptor function. Five of the patients were from a family with autosomal dominant cone dystrophy; the other 5 patients had no family history of cone dystrophy and were not related. Full-field ERG revealed that most of the patients had abnormal cone photoreceptor function. Some patients also showed rod photoreceptor abnormalities. The rod system changes were smaller than the cone system changes.\n\n{4:Kondo et al. (2004)} described a form of cone dystrophy which the peripheral cone system was more affected than the central cone system, and whose rod system was relatively normal ({609021}).",[180020],[1871],[Progressive cone dystrophy],[11897],,Retinal cone dystrophy 1,TRUE,FALSE,Active +GARD:3197,Legacy,GARD,,,,,,,,,,,,Lateral body wall defect,TRUE,FALSE,Retired +GARD:3198,Legacy,GARD,,,,,,,,,,,,Laterality defects dominant,TRUE,FALSE,Active +GARD:320,Active,Orphanet,ORPHA:2256,Disorder,[Malformation syndrome],Fibulo-ulnar hypoplasia-renal anomalies syndrome,[Saito-Kuba-Tsuruta syndrome],"Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.",[228940],,,,,Saito Kuba Tsuruta syndrome,TRUE,FALSE,Active +GARD:3201,Legacy,GARD,,,,,,,,,,,,Laurence Prosser Rocker syndrome,TRUE,FALSE,Retired +GARD:3203,Active,Orphanet,ORPHA:2379,Disorder,[Disease],Early-onset parkinsonism-intellectual disability syndrome,"[Laxova-Opitz syndrome, Waisman syndrome]","A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.",[311510],,,,,Early-onset parkinsonism-intellectual disability syndrome,TRUE,FALSE,Active +GARD:321,Active,Orphanet,ORPHA:2613,Disorder,[Disease],Nail-patella-like renal disease,[Salcedo syndrome],"A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils.",[256020],,,,,Salcedo syndrome,TRUE,FALSE,Active +GARD:3211,Legacy,GARD,,,,,,,,,,,,Leber miliary aneurysm,TRUE,FALSE,Retired +GARD:3212,Active,Orphanet,ORPHA:1297,Disorder,[Malformation syndrome],Branchio-oculo-facial syndrome,[BOFS],"A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.",[113620],,,,,Branchiooculofacial syndrome,TRUE,FALSE,Active +GARD:3214,Legacy,GARD,,,,,,,,,,,,Leg absence deformity cataract,TRUE,FALSE,Active +GARD:3218,Legacy,GARD,,,,,,,,,,,,Leiomyomatosis familial,TRUE,FALSE,Retired +GARD:3219,Legacy,GARD,,,,,,,,,,,,"Leiomyomatosis of esophagus, cataract and hematuria",TRUE,FALSE,Active +GARD:322,Active,Orphanet,ORPHA:3156,Disorder,[Disease],Senior-Loken syndrome,"[Nephronophthisis with retinal dystrophy, Renal dysplasia-retinal aplasia syndrome, SLSN]","A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.","[613615, 606995, 610189, 266900, 606996, 609254, 616629, 616307, 614845]",,,,,Senior Loken Syndrome,TRUE,FALSE,Active +GARD:3221,Legacy,GARD,,,,,,,,,,,,Leisti Hollister Rimoin syndrome,TRUE,FALSE,Retired +GARD:3223,Active,Orphanet,ORPHA:2658,Disorder,[Malformation syndrome],Lenz-Majewski hyperostotic dwarfism,,"An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.",[151050],,,,,Lenz Majewski hyperostotic dwarfism,TRUE,FALSE,Active +GARD:3224,Active,Orphanet,ORPHA:240,Disorder,[Malformation syndrome],Léri-Weill dyschondrosteosis,[Léri-Weill syndrome],"A rare, genetic skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.",[127300],,,,,Leri Weill dyschondrosteosis,TRUE,FALSE,Active +GARD:3225,Legacy,GARD,,,,,,,,,,,,Lethal chondrodysplasia Moerman type,TRUE,FALSE,Active +GARD:3226,Legacy,GARD,,,,,,,,,,,,Lethal chondrodysplasia Seller type,TRUE,FALSE,Active +GARD:3227,Active,Orphanet,ORPHA:1486,Disorder,[Malformation syndrome],Lethal congenital contracture syndrome type 1,"[Herva disease, LCCS1, Multiple contracture syndrome, Finnish type]","Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.",[253310],,,,,Lethal congenital contracture syndrome 1,TRUE,FALSE,Active +GARD:3228,Active,Orphanet,ORPHA:511,Disorder,[Disease],Maple syrup urine disease,"[BCKD deficiency, BCKDH deficiency, Branched-chain 2-ketoacid dehydrogenase deficiency, Branched-chain ketoaciduria, MSUD]","A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD.","[615135, 248600]",,,,,Maple syrup urine disease,TRUE,FALSE,Active +GARD:323,Legacy,GARD,,,,,,,,,,,,Sallis Beighton syndrome,TRUE,FALSE,Retired +GARD:3230,Active,Orphanet,ORPHA:512,Disorder,[Disease],Metachromatic leukodystrophy,"[Arylsulfatase A deficiency, MLD]","A rare lysosomal disease characterized by accumulation of sulfatides in the central and peripheral nervous system due to deficiency of the enzyme arylsulfatase A, leading to demyelination. Three clinical subtypes can be distinguished based on the age of onset: late infantile, juvenile, and adult. Lead symptoms are deterioration in motor or cognitive function or behavioral problems, depending on the subtype, all eventually culminating in a decerebrated state and death after a highly variable disease course and duration. Mode of inheritance is autosomal recessive.","[250100, 249900, 156310]",,,,,Metachromatic leukodystrophy,TRUE,FALSE,Active +GARD:3231,Active,Orphanet,ORPHA:99852,Disorder,[Disease],Ravine syndrome,"[Progressive encephalopathy with severe infantile anorexia, Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome]","Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.",,,,,,RAVINE syndrome,TRUE,FALSE,Draft +GARD:3232,Active,Orphanet,ORPHA:2386,Disorder,[Disease],Leukoencephalopathy-palmoplantar keratoderma syndrome,,"Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.",,,,,,Leukoencephalopathy palmoplantar keratoderma,TRUE,FALSE,Active +GARD:3234,Legacy,GARD,,,,,,,,,,,,Leukomelanoderma mental retardation hypotrichosis,TRUE,FALSE,Retired +GARD:3236,Active,Orphanet,ORPHA:2743,Disorder,[Malformation syndrome],Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,[Levic-Stefanovic-Nikolic syndrome],"Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.",[165150],,,,,Levic Stefanovic Nikolic syndrome,TRUE,FALSE,Active +GARD:324,Active,Orphanet,ORPHA:2230,Disorder,[Disease],Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome,[Salti-Salem syndrome],This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.,,,,,,Slti Salem syndrome,TRUE,FALSE,Active +GARD:3242,Active,Orphanet,ORPHA:1300,Disorder,[Malformation syndrome],Autosomal dominant popliteal pterygium syndrome,"[Facio-genito-popliteal syndrome, Popliteal web syndrome]","A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.",[119500],,,,,Popliteal pterygium syndrome,TRUE,FALSE,Active +GARD:3243,Legacy,GARD,,,,,,,,,,,,Lewy body dementia,FALSE,FALSE,Active +GARD:3244,Active,Orphanet,ORPHA:755,Disorder,[Disease],Leydig cell hypoplasia,"[46,XY DSD due to LH resistance or LHB deficiency, 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency, 46,XY disorder of sex development due to LH resistance or LHB deficiency, 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency]","A rare, 46,XY disorder of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias.",[238320],,,,,Leydig cell hypoplasia,TRUE,FALSE,Active +GARD:3247,Active,Orphanet,ORPHA:525,Disorder,[Disease],Lichen planopilaris,"[Follicular lichen planus, LPP, Lichen follicularis, Lichen planus follicularis]","A rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.",,,,,,Lichen planopilaris,TRUE,FALSE,Active +GARD:3248,Active,Orphanet,ORPHA:2390,Disorder,[Disease],Lichtenstein syndrome,,"A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.",[246550],,,,,Lichtenstein syndrome,TRUE,FALSE,Active +GARD:3249,Legacy,GARD,,,,,,,,,,,,Iida Kannari syndrome,TRUE,FALSE,Active +GARD:325,Active,Orphanet,ORPHA:95431,Disorder,[Disease],Twin to twin transfusion syndrome,[Feto-fetal transfusion syndrome],"Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated",,,,,,Twin to twin transfusion syndrome,TRUE,FALSE,Active +GARD:3251,Active,Orphanet,ORPHA:2369,Disorder,[Malformation syndrome],Limb body wall complex,"[Body stalk anomaly, LBWC syndrome]","Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.",,,,,,Limb-body wall complex,TRUE,FALSE,Active +GARD:3252,Active,Orphanet,ORPHA:1307,Disorder,[Malformation syndrome],Distal limb deficiencies-micrognathia syndrome,"[10q24 microduplication syndrome, Buttiens-Fryns syndrome]","The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.",[246560],,,,,Limb deficiencies distal with micrognathia,TRUE,FALSE,Active +GARD:3253,Legacy,GARD,,,,,,,,,,,,Limb dystonia,TRUE,FALSE,Retired +GARD:3254,Legacy,GARD,,,,,,,,,,,,Limb reduction defect,TRUE,FALSE,Retired +GARD:3259,Active,Orphanet,ORPHA:2611,Disorder,[Disease],Linear verrucous nevus syndrome,[Linear hamartoma syndrome],"A rare skin disease characterized by a hamartomatous epidermal lesion presenting as a linear array of verrucous, hyperkeratotic papules that often coalesce into plaques and are formed along the lines of Blaschko. The condition is associated with involvement of other organ systems, mainly brain, eye, and skeletal system. It is the result of mosaic post-zygotic mutations and most commonly presents at birth, but may occur anytime during childhood, rarely also in adulthood.",,,,,,Linear hamartoma syndrome,TRUE,FALSE,Active +GARD:326,Legacy,GARD,,,,,,,,,,,,Cutaneous necrotizing vasculitis,TRUE,FALSE,Retired +GARD:3262,Active,Orphanet,ORPHA:165,Group of disorders,[Clinical group],Neutral lipid storage disease,[Lipidosis with triglyceride storage disease],Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished.,,,,,,Lipidosis with triglycerid storage disease,TRUE,FALSE,Active +GARD:3263,Active,Orphanet,ORPHA:2394,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E3 deficiency,"[DLD deficiency, Dihydrolipoamide dehydrogenase deficiency, E3-deficient maple syrup urine disease]","Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.",[246900],,,,,Dihydrolipoamide dehydrogenase deficiency,TRUE,FALSE,Active +GARD:3268,Active,Orphanet,ORPHA:530,Disorder,[Malformation syndrome],Lipoid proteinosis,"[Hyalinosis cutis et mucosae, Urbach-Wiethe disease]","Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.",[247100],,,,,Lipoid proteinosis of Urbach and Wiethe,TRUE,FALSE,Active +GARD:3276,Legacy,GARD,,,,,,,,,,,,Lissencephaly syndrome type 1,TRUE,FALSE,Retired +GARD:3277,Active,Orphanet,ORPHA:51577,Group of disorders,[Clinical group],Cobblestone lissencephaly,[Lissencephaly type 2],"A rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.",,,,,,Lissencephaly 2,TRUE,FALSE,Active +GARD:3278,Legacy,GARD,,,,,,,,,,,,"Lissencephaly, isolated",TRUE,FALSE,Retired +GARD:328,Legacy,GARD,,,,,,,,,,,,Wandering spleen,TRUE,FALSE,Active +GARD:3281,Legacy,GARD,,,,,,,,,,,,Localized epiphyseal dysplasia,TRUE,FALSE,Retired +GARD:3283,Active,Orphanet,ORPHA:2404,Disorder,[Disease],Loiasis,,"Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis (see these terms).",,,,,,Loiasis,TRUE,FALSE,Active +GARD:3284,Active,Orphanet,ORPHA:101016,Disorder,[Disease],Romano-Ward syndrome,[Romano-Ward long QT syndrome],"A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).","[613695, 600919, 611818, 616247, 603830, 612955, 613688, 611819, 613485, 192500, 611820, 616249, 613693]",,,,,Long QT syndrome 1,TRUE,FALSE,Active +GARD:3285,Active,Orphanet+OMIM,OMIM:613688,Subtype of disorder,[Disease subtype],Long qt syndrome 2,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({7:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[613688],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 2,TRUE,FALSE,Active +GARD:3286,Active,Orphanet+OMIM,OMIM:603830,Subtype of disorder,[Disease subtype],Long qt syndrome 3,,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({4:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500}).",[603830],[101016],[Romano-Ward syndrome],[3284],,Long QT syndrome 3,TRUE,FALSE,Active +GARD:3287,Active,Orphanet,ORPHA:168,Disorder,[Disease],Loose anagen syndrome,,"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.",[600628],,,,,Loose anagen hair syndrome,TRUE,FALSE,Active +GARD:329,Active,Orphanet,ORPHA:901,Disorder,[Disease],Wells syndrome,[Eosinophilic cellulitis],Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.,,,,,,Wells syndrome,TRUE,FALSE,Active +GARD:3293,Legacy,GARD,,,,,,,,,,,,"Dwarfism, low-birth-weight type with unresponsiveness to growth hormone",TRUE,FALSE,Active +GARD:3295,Active,Orphanet,ORPHA:534,Disorder,[Malformation syndrome],Oculocerebrorenal syndrome of Lowe,"[Lowe disease, Lowe oculo-cerebro-renal dystrophy, Lowe oculo-cerebro-renal syndrome, Lowe oculocerebrorenal dystrophy, Lowe syndrome, OCRL, Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency]","A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.",[309000],,,,,Lowe oculocerebrorenal syndrome,TRUE,FALSE,Active +GARD:3299,Legacy,GARD,,,,,,,,,,,,Lower mesodermal defects sequence,TRUE,FALSE,Active +GARD:330,Active,Orphanet,ORPHA:3455,Disorder,[Malformation syndrome],Wiedemann-Rautenstrauch syndrome,[Neonatal progeroid syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by marked prenatal and postnatal growth retardation, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and an unusual face. Mild to moderate intellectual disability is common.",[264090],,,,,Neonatal progeroid syndrome,TRUE,FALSE,Active +GARD:3300,Active,Orphanet,ORPHA:2409,Disorder,[Malformation syndrome],Lowry-MacLean syndrome,,"Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.",[600252],,,,,Lowry Maclean syndrome,TRUE,FALSE,Active +GARD:3303,Active,Orphanet,ORPHA:2575,Disorder,[Disease],Cystic fibrosis-gastritis-megaloblastic anemia syndrome,[Lubani-Al Saleh-Teebi syndrome],"A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.",[219721],,,,,Lubani Al Saleh Teebi syndrome,TRUE,FALSE,Active +GARD:3304,Legacy,GARD,,,,,,,,,,,,Lucey-Driscoll syndrome,TRUE,FALSE,Active +GARD:3307,Active,Orphanet,ORPHA:776,Disorder,[Malformation syndrome],Lujan-Fryns syndrome,[X-linked intellectual disability with marfanoid habitus],"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.","[300676, 300799, 309520]",,,,,Lujan syndrome,TRUE,FALSE,Active +GARD:3308,Legacy,GARD,,,,,,,,,,,,Lumbar malsegmentation short stature,TRUE,FALSE,Retired +GARD:331,Active,Orphanet,ORPHA:3472,Disorder,[Malformation syndrome],Yunis-Varon syndrome,[Cleidocranial dysplasia-micrognathia-absent thumbs syndrome],"A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global developmental delay, and respiratory, feeding and swallowing difficulties.",[216340],,,,,Yunis-Varon syndrome,TRUE,FALSE,Active +GARD:3314,Active,Orphanet,ORPHA:1173,Disorder,[Disease],Cerebellar ataxia-hypogonadism syndrome,"[Gordon-Holmes syndrome, Luteinizing hormone-releasing hormone deficiency with ataxia]","Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).","[212840, 605672]",,,,,Cerebellar ataxia and hypogonadotropic hypogonadism,TRUE,FALSE,Active +GARD:3315,Legacy,GARD,,,,,,,,,,,,Lutz Richner Landolt syndrome,TRUE,FALSE,Retired +GARD:3318,Active,Orphanet,ORPHA:2136,Disorder,[Malformation syndrome],Hennekam syndrome,[Lymphedema-lymphangiectasia-intellectual disability syndrome],"A rare syndromic lymphedema characterized by the association of primary lymphedema, intestinal lymphangiectasia, intellectual deficit and unusual facial characteristics.","[616006, 235510, 618154]",,,,,Hennekam syndrome,TRUE,FALSE,Active +GARD:3319,Active,Orphanet,ORPHA:538,Disorder,[Disease],Lymphangioleiomyomatosis,[LAM],"A rare, multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs).",[606690],,,,,Lymphangioleiomyomatosis,TRUE,FALSE,Active +GARD:332,Active,Orphanet,ORPHA:1555,Disorder,[Malformation syndrome],Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,[Beare-Stevenson cutis gyrata syndrome],"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.",[123790],,,,,Beare-Stevenson cutis gyrata syndrome,TRUE,FALSE,Active +GARD:3321,Active,Orphanet,ORPHA:2035,Disorder,[Disease],Lymphatic filariasis,,"Lymphatic filariasis (LF) is a severe form of filariasis (see this term), caused by the parasitic worms Wuchereria bancrofti, Brugia malayi and Brugia timori, and the most common cause of acquired lymphedema worldwide. LF is endemic to tropical and subtropical regions. The vast majority of infected patients are asymptomatic but it can also cause a variety of clinical manifestations, including limb lymphedema, genital anomalies (hydrocele, chylocele), elephantiasis in later stages of the disease (frequently in the lower extremities), and tropical pulmonary eosinophilia (nocturnal paroxysmal cough and wheezing, weight loss, low-grade fever, adenopathy, and pronounced blood eosinophilia). Renal involvement (hematuria, proteinuria, nephritic syndrome, glomerulonephritis), and mono-arthritis of the knee or ankle joint have also been reported.",,,,,,Lymphatic filariasis,TRUE,FALSE,Active +GARD:3324,Active,Orphanet,ORPHA:90186,Disorder,[Disease],Meige disease,"[Hereditary lymphedema type II, Meige lymphedema]","Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.",[153200],,,,,Hereditary lymphedema type II,TRUE,FALSE,Active +GARD:3328,Active,Orphanet+OMIM,OMIM:153100,Subtype of disorder,[Disease subtype],Lymphatic malformation 1,"[lymphedema, hereditary, type i, formerly, Nonne-milroy lymphedema, primary congenital lymphedema, lymphedema, hereditary, ia, formerly, lymphedema, early-onset, milroy disease]","Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {10:Gordon et al., 2013} and {1:Balboa-Beltran et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Lymphatic Malformation\n\nPrimary lymphedema is genetically heterogeneous: see also LMPHM2 ({611944}), which maps to chromosome 6q16.2-q22.1; LMPHM3 ({613480}), caused by mutation in the GJC2 gene ({608803}) on chromosome 1q42; LMPHM4 ({615907}), caused by mutation in the VEGFC gene ({601528}) on chromosome 4q34; LMPHM5 ({153200}); LMPHM6 ({616843}), caused by mutation in the PIEZO1 gene ({611184}) on chromosome 16q24; LMPHM7 ({617300}), caused by mutation in the EPHB4 gene ({600011}) on chromosome 7q22; LMPHM8 ({618773}), caused by mutation in the CALCRL gene ({114190}) on chromosome 2q31; LMPHM9 ({619319}), caused by mutation in the CELSR1 gene ({604523}) on chromosome 22q13; LMPHM10 ({610369}), caused by mutation in the ANGPT2 gene ({601922}) on chromosome 8p23; and LMPHM11 ({619401}), caused by mutation in the TIE1 gene ({600222}) on chromosome 1p34.\n\nLymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome ({153400}), which is caused by mutation in the FOXC2 gene ({602402}), and various forms of nonimmune hydrops fetalis (NIHF; see {236750}).",[153100],[79452],[Milroy disease],[7220],,Congenital lymphedema,TRUE,FALSE,Active +GARD:3329,Legacy,GARD,,,,,,,,,,,,Lymphoblastic lymphoma,TRUE,FALSE,Active +GARD:333,Active,Orphanet,ORPHA:33001,Disorder,[Malformation syndrome],Lymphedema-distichiasis syndrome,,"A rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.",[153400],,,,,Lymphedema-distichiasis syndrome,TRUE,FALSE,Active +GARD:3330,Legacy,GARD,,,,,,,,,,,,Angiomatous lymphoid hamartoma,TRUE,FALSE,Retired +GARD:3335,Active,Orphanet,ORPHA:470,Disorder,[Disease],Lysinuric protein intolerance,"[Hyperdibasic aminoaciduria, LPI]",Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.,[222700],,,,,Lysinuric protein intolerance,TRUE,FALSE,Active +GARD:334,Active,Orphanet,ORPHA:41,Disorder,[Disease],Dyschromatosis symmetrica hereditaria,[Acropigmentation of Dohi],"A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.",[127400],,,,,Dyschromatosis symmetrica hereditaria 1,TRUE,FALSE,Active +GARD:3342,Active,Orphanet,ORPHA:156207,Group of disorders,[Category],Macroglossia,,,,,,,,Macroglossia,TRUE,FALSE,Active +GARD:3343,Active,Orphanet,ORPHA:116,Disorder,[Malformation syndrome],Beckwith-Wiedemann syndrome,"[BWS, Exomphalos-macroglossia-gigantism syndrome, Wiedemann-Beckwith syndrome]","Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.",[130650],,,,,Beckwith-Wiedemann syndrome,TRUE,FALSE,Active +GARD:3347,Active,Orphanet,ORPHA:2435,Disorder,[Disease],Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome,[Westerhof-Beemer-Cormane syndrome],"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.",,,,,,Macules hereditary congenital hypopigmented and hyperpigmented,TRUE,FALSE,Active +GARD:3348,Active,Orphanet,ORPHA:2728,Disorder,[Malformation syndrome],"Blepharophimosis-intellectual disability syndrome, Ohdo type","[BMRS, Ohdo type, Blepharophimosis syndrome, Ohdo type, Ohdo syndrome, Ohdo-Madokoro-Sonoda syndrome]","Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.",[249620],,,,,Madokoro Ohdo Sonoda syndrome,TRUE,FALSE,Active +GARD:335,Legacy,GARD,,,,,,,,,,,,ABCD syndrome,TRUE,FALSE,Retired +GARD:3350,Active,Orphanet,ORPHA:34528,Disorder,[Disease],Autosomal dominant primary hypomagnesemia with hypocalciuria,"[HOMG2, Isolated autosomal dominant hypomagnesemia, Isolated renal magnesium wasting, Renal hypomagnesemia type 2]","A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.",[154020],,,,,Renal hypomagnesemia 2,TRUE,FALSE,Active +GARD:3356,Legacy,GARD,,,,,,,,,,,,Male pseudohermaphroditism due to defective LH molecule,TRUE,FALSE,Active +GARD:336,Active,Orphanet,ORPHA:101003,Disorder,[Disease],Autosomal recessive spastic paraplegia type 23,"[Lison syndrome, SPG23, Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome]","Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.",[270750],,,,,Spastic paraplegia 23,TRUE,FALSE,Active +GARD:3360,Legacy,GARD,,,,,,,,,,,,Malignant germ cell tumor,TRUE,FALSE,Active +GARD:3361,Active,Orphanet,ORPHA:2215,Disorder,[Malformation syndrome],Multiple pterygium-malignant hyperthermia syndrome,"[Froster-Iskenius-Waterson-Hall syndrome, Malignant hyperthermia-arthrogryposis-torticollis syndrome]","An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.",[217150],,,,,Malignant hyperthermia arthrogryposis torticollis,TRUE,FALSE,Active +GARD:3363,Active,Orphanet+OMIM,OMIM:145600,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 1","[hyperthermia of anesthesia, hyperpyrexia, malignant, Mhs]","Susceptibility to malignant hyperthermia (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by {47:Monnier et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Malignant Hyperthermia\n\nOther MHS loci include MHS2 ({154275}) on chromosome 17q; MHS3 ({154276}) on chromosome 7q; MHS4 ({600467}) on chromosome 3q; MHS5 ({601887}), caused by mutation in the CACNA1S gene ({114208}) on chromosome 1q32; and MHS6 ({601888}) on chromosome 5p.",[145600],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 1,TRUE,FALSE,Retired +GARD:3364,Active,Orphanet+OMIM,OMIM:154275,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 2",,"Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease with autosomal dominant inheritance triggered by exposure to commonly used inhalational anaesthetics or depolarizing muscle relaxants (summary by {5:Sudbrak et al., 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 ({145600}).",[154275],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 2,TRUE,FALSE,Retired +GARD:3365,Active,Orphanet+OMIM,OMIM:154276,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 3",,"Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle which manifests as a potentially fatal hypermetabolic crisis triggered by commonly used anaesthetic agents (summary by {1:Iles et al., 1994}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia susceptibility, see MHS1 ({145600}).",[154276],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 3,TRUE,FALSE,Retired +GARD:3366,Active,Orphanet+OMIM,OMIM:600467,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 4",,"Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease for which MH susceptibility (MHS) is transmitted as an autosomal dominant trait. A potentially life-threatening MH crisis is triggered by exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants (summary by {1:Sudbrak et al., 1995}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 ({145600}).",[600467],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 4,TRUE,FALSE,Retired +GARD:3367,Active,Orphanet+OMIM,OMIM:601887,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 5",,"Malignant hyperthermia-5 (MHS5) is a muscle disorder in which an episode is triggered by exposure to volatile anesthetic agents or depolarizing muscle relaxants. A fulminant malignant hyperthermia crisis is characterized by hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis (summary by {1:Monnier et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia, see MHS1 ({145600}).",[601887],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 5,TRUE,FALSE,Retired +GARD:3368,Active,Orphanet+OMIM,OMIM:601888,Subtype of disorder,[Disease subtype],"Malignant hyperthermia, susceptibility to, 6",,"Malignant hyperthermia (MH) is a life threatening disorder triggered in susceptible individuals on exposure to commonly used inhalational anaesthetics, e.g., halothane and the depolarizing muscle relaxant suxamethonium (succinyl choline) (summary by {1:Robinson et al., 1997})\n\nFor a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 ({145600}).",[601888],[423],[Malignant hyperthermia of anesthesia],[6964],,Malignant hyperthermia susceptibility type 6,TRUE,FALSE,Retired +GARD:3369,Legacy,GARD,,,,,,,,,,,,Malignant mesenchymoma,TRUE,FALSE,Active +GARD:3371,Active,Orphanet,ORPHA:943,Disorder,[Disease],Malonic aciduria,[Malonyl-CoA decarboxylase deficiency],Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).,[248360],,,,,Malonyl-CoA decarboxylase deficiency,TRUE,FALSE,Active +GARD:3373,Active,Orphanet,ORPHA:2229,Disorder,[Malformation syndrome],Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,"[Cardiogenital syndrome, Malouf syndrome, Najjar syndrome]",This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).,[212112],,,,,Dilated cardiomyopathy with hypergonadotropic hypogonadism,TRUE,FALSE,Active +GARD:3374,Active,Orphanet,ORPHA:90153,Subtype of disorder,[Clinical subtype],Mandibuloacral dysplasia with type A lipodystrophy,,,[248370],,,,,Mandibuloacral dysplasia with type A lipodystrophy,TRUE,FALSE,Active +GARD:3378,Active,Orphanet,ORPHA:1120,Disorder,[Malformation syndrome],Lung agenesis-heart defect-thumb anomalies syndrome,[Mardini-Nyhan syndrome],"Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.",[601612],,,,,Manouvrier syndrome,TRUE,FALSE,Active +GARD:338,Legacy,GARD,,,,,,,,,,,,Zerres Rietschel Majewski syndrome,TRUE,FALSE,Active +GARD:3382,Active,Orphanet,ORPHA:2460,Disorder,[Malformation syndrome],Van den Ende-Gupta syndrome,"[Marden-Walker-like syndrome, VDEGS]","Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.",[600920],,,,,Van den Ende Gupta syndrome,TRUE,FALSE,Active +GARD:3387,Legacy,GARD,,,,,,,,,,,,Marfanoid hypermobility syndrome,TRUE,FALSE,Active +GARD:3388,Active,Orphanet,ORPHA:2463,Disorder,[Malformation syndrome],Marfanoid habitus-autosomal recessive intellectual disability syndrome,[Fragoso-Cantú syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984.",[248770],,,,,Marfanoid habitus-autosomal recessive intellectual disability syndrome,TRUE,FALSE,Active +GARD:3389,Legacy,GARD,,,,,,,,,,,,Marginal glioneuronal heterotopia,TRUE,FALSE,Active +GARD:339,Legacy,GARD,,,,,,,,,,,,Zazam Sheriff Phillips syndrome,TRUE,FALSE,Active +GARD:3390,Active,Orphanet,ORPHA:444,Disorder,[Disease],Marie Unna hereditary hypotrichosis,"[Hypotrichosis, Marie Unna type, MUHH, Marie Unna congenital hypotrichosis]","A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.","[146550, 612841]",,,,,Marie Unna congenital hypotrichosis,TRUE,FALSE,Active +GARD:3393,Legacy,GARD,,,,,,,,,,,,Markel Vikkula Mulliken syndrome,TRUE,FALSE,Active +GARD:3395,Active,Orphanet,ORPHA:2717,Disorder,[Malformation syndrome],Oculotrichoanal syndrome,"[MOTA syndrome, Manitoba oculotrichoanal syndrome, Marles syndrome, Marles-Greenberg-Persaud syndrome]","Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.",[248450],,,,,Manitoba oculotrichoanal syndrome,TRUE,FALSE,Active +GARD:3396,Active,Orphanet,ORPHA:2763,Disorder,[Malformation syndrome],Osteocraniostenosis,"[Gracile bone dysplasia, Osteocraniosplenic syndrome]","Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.",[602361],,,,,Gracile bone dysplasia,TRUE,FALSE,Active +GARD:3397,Legacy,GARD,,,,,,,,,,,,Maroteaux Fonfria syndrome,TRUE,FALSE,Retired +GARD:3399,Active,Orphanet,ORPHA:1423,Disorder,[Malformation syndrome],Lethal recessive chondrodysplasia,[Maroteaux-Stanescu-Cousin syndrome],"Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.",,,,,,Maroteaux Stanescu Cousin syndrome,TRUE,FALSE,Active +GARD:340,Legacy,GARD,,,,,,,,,,,,Zadik Barak Levin syndrome,TRUE,FALSE,Active +GARD:3401,Active,Orphanet,ORPHA:2464,Disorder,[Malformation syndrome],"Marfanoid syndrome, De Silva type",,"A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.",[223330],,,,,Marphanoid syndrome type De Silva,TRUE,FALSE,Active +GARD:3402,Legacy,GARD,,,,,,,,,,,,Marsden Nyhan Sakati syndrome,TRUE,FALSE,Retired +GARD:3404,Legacy,GARD,,,,,,,,,,,,Martinez Monasterio Pinheiro syndrome,TRUE,FALSE,Retired +GARD:3406,Active,Orphanet,ORPHA:1387,Disorder,[Malformation syndrome],Cataract-intellectual disability-hypogonadism syndrome,[Martsolf syndrome],"This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.",[212720],,,,,Martsolf syndrome,TRUE,FALSE,Active +GARD:3407,Legacy,GARD,,,,,,,,,,,,Massa Casaer Ceulemans syndrome,TRUE,FALSE,Active +GARD:3409,Active,Orphanet,ORPHA:2135,Disorder,[Malformation syndrome],Hennekam-Beemer syndrome,"[Mastocytosis-short stature-deafness syndrome, Mastocytosis-short stature-hearing loss syndrome]","A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.",[248910],,,,,Mastocytosis cutaneous with short stature conductive hearing loss and microtia,TRUE,FALSE,Active +GARD:341,Active,Orphanet,ORPHA:3471,Disorder,[Disease],Young syndrome,[Azoospermia-sinopulmonary infections syndrome],Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections.,[279000],,,,,Young syndrome,TRUE,FALSE,Active +GARD:3410,Legacy,GARD,,,,,,,,,,,,Mastroiacovo De Rosa Satta syndrome,TRUE,FALSE,Retired +GARD:3411,Legacy,GARD,,,,,,,,,,,,Mastroiacovo Gambi Segni syndrome,TRUE,FALSE,Retired +GARD:3413,Active,Orphanet,ORPHA:2209,Disorder,[Malformation syndrome],Maternal phenylketonuria,"[Hyperphenylalaninemic embryopathy, Maternal PKU, Maternal hyperphenylalaninemia, Phenylketonuric embryopathy]","A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations.",[261600],,,,,Maternal hyperphenylalaninemia,TRUE,FALSE,Active +GARD:3417,Legacy,GARD,,,,,,,,,,,,Matsoukas Liarikos Giannikas syndrome,TRUE,FALSE,Retired +GARD:3418,Active,Orphanet+OMIM,OMIM:125850,Subtype of disorder,[Disease subtype],"Maturity-onset diabetes of the young, type 1","[Mody, type 1, mild juvenile diabetes mellitus]",,[125850],[552],[MODY],[3697],,"Maturity-onset diabetes of the young, type 1",TRUE,FALSE,Active +GARD:3419,Legacy,GARD,,,,,,,,,,,,Maumenee syndrome,TRUE,FALSE,Retired +GARD:3423,Legacy,GARD,,,,,,,,,,,,McCallum Macadam Johnston syndrome,TRUE,FALSE,Retired +GARD:3424,Active,Orphanet,ORPHA:2471,Disorder,[Malformation syndrome],McDonough syndrome,,"McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.",[248950],,,,,McDonough syndrome,TRUE,FALSE,Active +GARD:3425,Legacy,GARD,,,,,,,,,,,,McDowall syndrome,TRUE,FALSE,Active +GARD:3426,Active,Orphanet,ORPHA:168624,Disorder,[Malformation syndrome],"Familial scaphocephaly syndrome, McGillivray type",[Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome],"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.",[609579],,,,,McGillivray syndrome,TRUE,FALSE,Active +GARD:3427,Active,Orphanet,ORPHA:2473,Disorder,[Malformation syndrome],McKusick-Kaufman syndrome,"[Hydrometrocolpos-postaxial polydactyly syndrome, Kaufman-Mckusick syndrome]","A rare, genetic multiple congenital anomalies syndrome characterized by genitourinary malformations (hydrometrocolpos in females and in males, glanular hypospadias and prominent scrotal raphe) , postaxial polydactyly that may affect only one or several limbs, and to a lesser extent cardiac defects. Hydrometrocolpos is due to either a congenital obstruction, imperforate hymen or vaginal atressia, and causes a palpable mass and possibly hydronephrosis. Other anomalies occasionally reported include choanal atresia, pituitary dysplasia, esophageal atresia and distal tracheoesophageal fistula, Hirschsprung disease, vertebral anomalies, and hydrops fetalis. The disorder is allelic with Bardet-Biedl, and as some phenotypic overlap has been observed, patients should be reevaluated in later childhood for retinistis pigmentosas and other signs of Bardet-Biedl syndrome.",[236700],,,,,McKusick Kaufman syndrome,TRUE,FALSE,Active +GARD:3429,Legacy,GARD,,,,,,,,,,,,"Microcephaly, primary autosomal recessive",TRUE,FALSE,Retired +GARD:343,Active,Orphanet,ORPHA:166063,Disorder,[Malformation syndrome],Pontocerebellar hypoplasia type 4,"[Fatal infantile encephalopathy with olivopontocerebellar hypoplasia, Olivopontocerebellar hypoplasia, PCH4]","A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.",[225753],,,,,Pontocerebellar hypoplasia type 4,TRUE,FALSE,Active +GARD:3430,Active,Orphanet,ORPHA:2001,Disorder,[Malformation syndrome],Cleft lip/palate-intestinal malrotation-cardiopathy syndrome,[McPherson-Clemens syndrome],"A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.",[601165],,,,,McPherson Clemens syndrome,TRUE,FALSE,Active +GARD:3431,Legacy,GARD,,,,,,,,,,,,McPherson Robertson Cammarano syndrome,TRUE,FALSE,Active +GARD:3432,Active,Orphanet,ORPHA:3097,Disorder,[Malformation syndrome],Meacham syndrome,"[Meacham-Winn-Culler syndrome, Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome]","Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.",[608978],,,,,Meacham Winn Culler syndrome,TRUE,FALSE,Active +GARD:3434,Legacy,GARD,,,,,,,,,,,,Measles,TRUE,FALSE,Active +GARD:3436,Active,Orphanet,ORPHA:564,Disorder,[Malformation syndrome],Meckel syndrome,"[Dysencephalia splanchnocystica, Meckel-Gruber syndrome]","A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.","[603194, 614209, 607361, 615397, 612284, 611561, 613885, 611134, 617562, 249000, 609345]",,,,,Meckel syndrome,TRUE,FALSE,Active +GARD:3438,Active,Orphanet,ORPHA:2476,Disorder,[Malformation syndrome],Dysraphism-cleft lip/palate-limb reduction defects syndrome,[Medeira-Dennis-Donnai syndrome],"A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.",,,,,,Medeira-Dennis-Donnai syndrome,TRUE,FALSE,Active +GARD:3439,Active,Orphanet,ORPHA:1993,Disorder,[Malformation syndrome],Pai syndrome,[Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome],"A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.",[155145],,,,,Median cleft of upper lip with polyps of facial skin and nasal mucosa,TRUE,FALSE,Active +GARD:344,Active,Orphanet,ORPHA:2166,Disorder,[Malformation syndrome],Holoprosencephaly-postaxial polydactyly syndrome,[Pseudo-trisomy 13 syndrome],"Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).",[264480],,,,,Pseudotrisomy 13 syndrome,TRUE,FALSE,Active +GARD:3440,Active,Orphanet,ORPHA:2699,Disorder,[Malformation syndrome],Median nodule of the upper lip,,Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.,[151630],,,,,Median nodule of the upper lip,TRUE,FALSE,Active +GARD:3441,Legacy,GARD,,,,,,,,,,,,Medrano Roldan syndrome,TRUE,FALSE,Active +GARD:3442,Active,Orphanet,ORPHA:2241,Disorder,[Malformation syndrome],Megacystis-microcolon-intestinal hypoperistalsis syndrome,"[Berdon syndrome, MMIHS, Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome]","Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.","[619351, 249210]",,,,,Megacystis microcolon intestinal hypoperistalsis syndrome,TRUE,FALSE,Active +GARD:3443,Active,Orphanet,ORPHA:2604,Disorder,[Disease],Familial visceral myopathy,"[Familial hollow visceral myopathy, Hereditary hollow visceral myopathy, Megaduodenum and/or megacystis]","Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.","[619350, 155310]",,,,,Megaduodenum and/or megacystis,TRUE,FALSE,Active +GARD:3444,Legacy,GARD,,,,,,,,,,,,Megaepiphyseal dwarfism,TRUE,FALSE,Active +GARD:3445,Active,Orphanet,ORPHA:2478,Disorder,[Disease],Megalencephalic leukoencephalopathy with subcortical cysts,"[MLC, Megalencephalic leukodystrophy, Megalencephaly-cystic leukodystrophy syndrome, Vacuolating megalencephalic leukoencephalopathy with subcortical cysts, Van der Knaap syndrome]","A form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.","[604004, 613925, 613926]",,,,,Megalencephalic leukoencephalopathy with subcortical cysts,TRUE,FALSE,Active +GARD:3448,Active,Orphanet,ORPHA:2479,Disorder,[Malformation syndrome],Megalocornea-intellectual disability syndrome,"[MMR syndrome, Neuhäuser syndrome]","Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.",[249310],,,,,Megalocornea-intellectual disability syndrome,TRUE,FALSE,Active +GARD:3449,Active,Orphanet,ORPHA:3038,Disorder,[Malformation syndrome],Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,[Mehes syndrome],"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.",[182875],,,,,Mehes syndrome,TRUE,FALSE,Active +GARD:345,Active,Orphanet,ORPHA:3055,Disorder,[Malformation syndrome],X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome,[Young-Hughes syndrome],"X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.",,,,,,X-linked intellectual disability - short stature – obesity,TRUE,FALSE,Active +GARD:3450,Legacy,GARD,,,,,,,,,,,,Mehta Lewis Patton syndrome,TRUE,FALSE,Active +GARD:3451,Active,Orphanet,ORPHA:2196,Subtype of disorder,[Clinical subtype],Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,"[FHHNC with severe ocular involvement, Hypercalciuria-bilateral macular coloboma syndrome, Meier-Blumberg-Imahorn syndrome]","Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.",[248190],,,,,Meier Blumberg Imahorn syndrome,TRUE,FALSE,Active +GARD:3454,Legacy,GARD,,,,,,,,,,,,Meigel disease,TRUE,FALSE,Active +GARD:3456,Legacy,GARD,,,,,,,,,,,,Meinecke syndrome,TRUE,FALSE,Retired +GARD:346,Active,Orphanet,ORPHA:3322,Disorder,[Disease],Hoyeraal-Hreidarsson syndrome,[Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome],"An X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.","[615190, 613989, 305000, 613990, 616353, 616553]",,,,,Hoyeraal Hreidarsson syndrome,TRUE,FALSE,Active +GARD:3460,Active,Orphanet,ORPHA:618,Disorder,[Disease],Familial melanoma,,Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.,"[613099, 155600, 155601, 613972, 615848, 615134, 609048, 608035, 155700]",,,,,Hereditary melanoma,TRUE,FALSE,Active +GARD:3462,Active,Orphanet,ORPHA:2482,Disorder,[Malformation syndrome],Melhem-Fahl syndrome,,Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.,,,,,,Melhem Fahl syndrome,TRUE,FALSE,Active +GARD:347,Active,Orphanet,ORPHA:2255,Disorder,[Disease],Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,[Yorifuji-Okuno syndrome],"A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).",[600001],,,,,Yorifuji Okuno syndrome,TRUE,FALSE,Active +GARD:3470,Legacy,GARD,,,,,,,,,,,,Lysteria monocytoigeneses meningitis,TRUE,FALSE,Retired +GARD:3471,Legacy,GARD,,,,,,,,,,,,Meningocele,TRUE,FALSE,Active +GARD:3472,Legacy,GARD,,,,,,,,,,,,Meningococcemia,TRUE,FALSE,Active +GARD:3473,Legacy,GARD,,,,,,,,,,,,Meningoencephalocele,TRUE,FALSE,Active +GARD:3475,Active,Orphanet,ORPHA:93969,Disorder,[Morphological anomaly],Myelomeningocele,,"A rare neural tube closure defect characterized by protrusion of the spinal cord and meninges from the spinal column into a fluid-filled sac at the location of the defect. Clinical signs are variable, depending on location and severity of the lesion, but may include bladder and bowel dysfunction, hydrocephalus, and/or partial or complete paralysis of the lower limbs, among others.",,,,,,Myelomeningocele,TRUE,FALSE,Active +GARD:3476,Legacy,GARD,,,,,,,,,,,,Mental deficiency-epilepsy-endocrine disorders,TRUE,FALSE,Retired +GARD:3479,Legacy,GARD,,,,,,,,,,,,Mental retardation-polydactyly-uncombable hair,TRUE,FALSE,Retired +GARD:348,Active,Orphanet,ORPHA:876,Disorder,[Disease],Yolk sac tumor,[Endodermal sinus tumor],"A rare germ cell tumor characterized by multiple patterns reflecting endodermal extraembryonal differentiation (secondary yolk sac and allantois) or endodermal somatic tissues (intestine, liver, and mesenchyme). The tumors most commonly occur in the second or third decade of life. They are typically located in the gonads, occasionally also in other regions. Patients present with a pelvic mass and/or abdominal pain (females) or an often painless, unilateral testicular mass (males). Elevated serum alpha fetoprotein is a common laboratory finding.",[273300],,,,,Testicular yolk sac tumor,TRUE,FALSE,Active +GARD:3480,Active,Orphanet,ORPHA:66625,Disorder,[Malformation syndrome],Cerebrooculonasal syndrome,,"Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.",[605627],,,,,Cerebrooculonasal syndrome,TRUE,FALSE,Active +GARD:3481,Legacy,GARD,,,,,,,,,,,,Mental retardation arachnodactyly hypotonia telangiectasia,TRUE,FALSE,Retired +GARD:3482,Active,Orphanet,ORPHA:1236,Disorder,[Malformation syndrome],Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome,,"Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.",,,,,,Intellectual disability - athetosis - microphthalmia,TRUE,FALSE,Active +GARD:3485,Active,Orphanet,ORPHA:3079,Disorder,[Malformation syndrome],"Intellectual disability, Buenos-Aires type",[Mutchinick syndrome],"Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.",[249630],,,,,Intellectual deficit Buenos-Aires type,TRUE,FALSE,Active +GARD:3486,Legacy,GARD,,,,,,,,,,,,Mental retardation cataracts calcified pinnae myopathy,TRUE,FALSE,Retired +GARD:3487,Legacy,GARD,,,,,,,,,,,,Mental retardation coloboma slimness,TRUE,FALSE,Retired +GARD:3489,Legacy,GARD,,,,,,,,,,,,Mental retardation dysmorphism hypogonadism diabetes,TRUE,FALSE,Retired +GARD:349,Legacy,GARD,,,,,,,,,,,,Neuroaxonal dystrophy renal tubular acidosis,TRUE,FALSE,Active +GARD:3490,Legacy,GARD,,,,,,,,,,,,Mental retardation epilepsy,TRUE,FALSE,Retired +GARD:3491,Active,Orphanet,ORPHA:2139,Disorder,[Malformation syndrome],Hernández-Aguirre Negrete syndrome,[Intellectual disability-epilepsy-bulbous nose syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation.",,,,,,Hernández-Aguirre Negrete syndrome,TRUE,FALSE,Active +GARD:3492,Legacy,GARD,,,,,,,,,,,,Mental retardation gynecomastia obesity X-linked,TRUE,FALSE,Retired +GARD:3493,Legacy,GARD,,,,,,,,,,,,Mental retardation hip luxation G6PD variant,TRUE,FALSE,Retired +GARD:3494,Legacy,GARD,,,,,,,,,,,,Mental retardation hypocupremia hypobetalipoproteinemia,TRUE,FALSE,Retired +GARD:3496,Legacy,GARD,,,,,,,,,,,,Mental retardation hypotonia skin hyperpigmentation,TRUE,FALSE,Retired +GARD:3497,Legacy,GARD,,,,,,,,,,,,Mental retardation macrocephaly coarse facies hypotonia,TRUE,FALSE,Retired +GARD:3498,Legacy,GARD,,,,,,,,,,,,Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome,TRUE,FALSE,Retired +GARD:3499,Legacy,GARD,,,,,,,,,,,,Mental retardation microcephaly unusual facies,TRUE,FALSE,Retired +GARD:35,Active,Orphanet,ORPHA:3307,Disorder,[Malformation syndrome],Tetrasomy 18p,[Isochromosome 18p],"Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.",[614290],,,,,Chromosome 18p tetrasomy,TRUE,FALSE,Active +GARD:350,Active,Orphanet,ORPHA:1858,Disorder,[Malformation syndrome],Skeletal dysplasia-epilepsy-short stature syndrome,[Gurrieri-Sammito-Bellussi syndrome],"A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactily, slight generalized hypotonia and hyper extensible joints.",[601187],,,,,Gurrieri syndrome,TRUE,FALSE,Active +GARD:3505,Active,Orphanet,ORPHA:404473,Disorder,[Malformation syndrome],Severe intellectual disability-progressive spastic diplegia syndrome,[CTNNB1 syndrome],"Severe intellectual disability-progressive spastic diplegia syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.",[615075],,,,,Severe intellectual disability-progressive spastic diplegia syndrome,TRUE,FALSE,Active +GARD:3506,Active,Orphanet,ORPHA:3077,Disorder,[Malformation syndrome],X-linked intellectual disability-psychosis-macroorchidism syndrome,"[Lindsay-Burn syndrome, PPM-X]","An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities.",[300055],,,,,PPM-X syndrome,TRUE,FALSE,Active +GARD:351,Active,Orphanet,ORPHA:1562,Disorder,[Malformation syndrome],Dacryocystitis-osteopoikilosis syndrome,[Gunal-Seber-Basaran syndrome],"A rare, autosomal dominant, syndromic bone disorder characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).",[166705],,,,,Osteopoikilosis and dacryocystitis,TRUE,FALSE,Active +GARD:3511,Legacy,GARD,,,,,,,,,,,,Mental retardation short stature deafness genital,TRUE,FALSE,Retired +GARD:3514,Active,Orphanet,ORPHA:3074,Disorder,[Malformation syndrome],Intellectual disability-short stature-hypertelorism syndrome,[Stoll-Géraudel-Chauvin syndrome],"Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.",,,,,,Intellectual deficit - short stature - hypertelorism,TRUE,FALSE,Active +GARD:3515,Legacy,GARD,,,,,,,,,,,,Mental retardation short stature microcephaly eye,TRUE,FALSE,Retired +GARD:3519,Active,Orphanet,ORPHA:1240,Disorder,[Disease],Metaphyseal acroscyphodysplasia,"[Bellini syndrome, Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome]","Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.",[250215],,,,,Metaphyseal acroscyphodysplasia,TRUE,FALSE,Active +GARD:352,Legacy,GARD,,,,,,,,,,,,Guizar Vasquez Sanchez Manzano syndrome,TRUE,FALSE,Active +GARD:3520,Active,Orphanet,ORPHA:1436,Disorder,[Malformation syndrome],X-linked skeletal dysplasia-intellectual disability syndrome,[Christian syndrome],"A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described.",[309620],,,,,X-linked skeletal dysplasia-intellectual disability syndrome,TRUE,FALSE,Active +GARD:3521,Active,Orphanet+OMIM,OMIM:309580,Subtype of disorder,[Malformation syndrome subtype],"Intellectual disability-hypotonic facies syndrome, x-linked, 1","[xlmr-hypotonic facies syndrome, carpenter-waziri syndrome, smith-fineman-myers syndrome 1, sfms, holmes-gang syndrome, Mental retardation-hypotonic facies syndrome, x-linked, 1, chudley-lowry syndrome]","The term 'X-linked intellectual disability-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women ({1:Abidi et al., 2005}). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.\n\nX-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.",[309580],[847],[Alpha-thalassemia-X-linked intellectual disability syndrome],[5864],,Smith-Fineman-Myers syndrome,TRUE,FALSE,Active +GARD:3523,Active,Orphanet,ORPHA:1891,Disorder,[Malformation syndrome],Intellectual disability-spasticity-ectrodactyly syndrome,[Jancar syndrome],"Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).",[246555],,,,,Intellectual disability-spasticity-ectrodactyly syndrome,TRUE,FALSE,Active +GARD:3524,Active,Orphanet,ORPHA:2557,Disorder,[Malformation syndrome],Mietens syndrome,"[Intellectual disability, Mietens-Weber type]","Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.",[249600],,,,,Mietens-Weber syndrome,TRUE,FALSE,Active +GARD:3529,Legacy,GARD,,,,,,,,,,,,Intellectual deficit unusual facies talipes hand anomalies,TRUE,FALSE,Retired +GARD:353,Legacy,GARD,,,,,,,,,,,,Kozlowski Warren Fisher syndrome,TRUE,FALSE,Active +GARD:3530,Active,Orphanet,ORPHA:3080,Disorder,[Malformation syndrome],"Intellectual disability, Wolff type",[Wolff-Zimmermann syndrome],"Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.",[277990],,,,,Intellectual disability Wolff type,TRUE,FALSE,Retired +GARD:3531,Active,Orphanet,ORPHA:3057,Disorder,[Disease],Monoamine oxidase A deficiency,[Brunner syndrome],"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.",[300615],,,,,Monoamine oxidase A deficiency,TRUE,FALSE,Active +GARD:3532,Legacy,GARD,,,,,,,,,,,,Mental retardation X-linked dysmorphism,TRUE,FALSE,Retired +GARD:3537,Active,Orphanet,ORPHA:1193,Disorder,[Malformation syndrome],Atkin-Flaitz syndrome,"[X-linked intellectual disability, Atkin type]","A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.",[300431],,,,,Atkin syndrome,TRUE,FALSE,Active +GARD:354,Active,Orphanet,ORPHA:2324,Disorder,[Malformation syndrome],Osteopenia-intellectual disability-sparse hair syndrome,[Kaler-Garrity-Stern syndrome],"A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.",[259690],,,,,Osteopenia and sparse hair,TRUE,FALSE,Active +GARD:3542,Legacy,GARD,,,,,,,,,,,,X-linked non-specific intellectual disability,TRUE,FALSE,Active +GARD:3545,Legacy,GARD,,,,,,,,,,,,Merlob Grunebaum Reisner syndrome,TRUE,FALSE,Retired +GARD:3547,Legacy,GARD,,,,,,,,,,,,Diffuse mesangial sclerosis,TRUE,FALSE,Active +GARD:3549,Legacy,GARD,,,,,,,,,,,,Mesomelia,TRUE,FALSE,Active +GARD:3552,Active,Orphanet,ORPHA:2631,Disorder,[Malformation syndrome],Mesomelic dwarfism-cleft palate-camptodactyly syndrome,"[Mesomelic dysplasia, Kozlowski-Reardon type, Mesomelic dysplasia, Reardon type, Reardon-Hall-Slaney syndrome]","A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.",[249710],,,,,Mesomelic dwarfism cleft palate camptodactyly,TRUE,FALSE,Active +GARD:3553,Active,Orphanet,ORPHA:2632,Disorder,[Malformation syndrome],Langer mesomelic dysplasia,"[Mesomelic dwarfism, Langer type]","A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.",[249700],,,,,Langer mesomelic dysplasia,TRUE,FALSE,Active +GARD:3554,Active,Orphanet,ORPHA:2633,Disorder,[Malformation syndrome],"Mesomelic dysplasia, Nievergelt type","[Mesomelic dwarfism, Nievergelt type, Nievergelt syndrome]","A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features.",[163400],,,,,Nievergelt syndrome,TRUE,FALSE,Active +GARD:3555,Active,Orphanet,ORPHA:2634,Disorder,[Malformation syndrome],"Mesomelic dwarfism, Reinhardt-Pfeiffer type","[Reinhardt-Pfeiffer mesomelic dysplasia, Reinhardt-Pfeiffer syndrome]",A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.,[191400],,,,,"Ulna and fibula, hypoplasia of",TRUE,FALSE,Active +GARD:3556,Legacy,GARD,,,,,,,,,,,,Mesomelic dysplasia skin dimples,TRUE,FALSE,Active +GARD:3557,Legacy,GARD,,,,,,,,,,,,Thai symphalangism syndrome,TRUE,FALSE,Active +GARD:3559,Active,Orphanet,ORPHA:2498,Disorder,[Morphological anomaly],Syndactyly type 8,[Fusion of metacarpals 4 and 5],"A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.",[309630],,,,,Metacarpals 4 and 5 fusion,TRUE,FALSE,Active +GARD:3560,Active,Orphanet,ORPHA:2499,Disorder,[Malformation syndrome],Metachondromatosis,,Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.,[156250],,,,,Metachondromatosis,TRUE,FALSE,Active +GARD:3562,Active,Orphanet,ORPHA:1040,Disorder,[Disease],Metaphyseal anadysplasia,"[Maroteaux-Verloes-Stanescu syndrome, Regressive metaphyseal dysplasia]","A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.","[613073, 602111]",,,,,Metaphyseal anadysplasia,TRUE,FALSE,Active +GARD:3563,Active,Orphanet,ORPHA:2501,Disorder,[Disease],"Metaphyseal chondrodysplasia, Spahr type",,"A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.",[250400],,,,,Metaphyseal chondrodysplasia Spahr type,TRUE,FALSE,Active +GARD:3565,Legacy,GARD,,,,,,,,,,,,"Metaphyseal chondrodysplasia, others",TRUE,FALSE,Active +GARD:3566,Active,Orphanet,ORPHA:2502,Disorder,[Malformation syndrome],Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,[Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome],"Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.",[250420],,,,,Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,TRUE,FALSE,Active +GARD:3568,Active,Orphanet,ORPHA:2504,Disorder,[Malformation syndrome],Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,,"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.",[156510],,,,,Metaphyseal dysplasia maxillary hypoplasia brachydactyly,TRUE,FALSE,Active +GARD:357,Legacy,GARD,,,,,,,,,,,,Gupta Patton syndrome,TRUE,FALSE,Retired +GARD:3570,Legacy,GARD,,,,,,,,,,,,Metatarsus adductus,FALSE,FALSE,Active +GARD:3571,Active,Orphanet,ORPHA:2635,Disorder,[Disease],Metatropic dysplasia,[Metatropic dwarfism],Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.,[156530],,,,,Metatropic dysplasia,TRUE,FALSE,Active +GARD:3573,Active,Orphanet,ORPHA:1923,Disorder,[Malformation syndrome],Methimazole embryofetopathy,"[MMI/CMZ embryofetopathy, MMI/CMZ embryopathy, Methimazole/carbimazole embryofetopathy, Methimazole/carbimazole embryopathy]","A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.",,,,,,Methimazole antenatal exposure,TRUE,FALSE,Active +GARD:3575,Active,Orphanet,ORPHA:1917,Disorder,[Malformation syndrome],Fetal methylmercury syndrome,"[Methyl mercury antenatal infection, Minamata disease]",A rare disorder characterized by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.,,,,,,Fetal methylmercury syndrome,TRUE,FALSE,Active +GARD:3576,Active,Orphanet,ORPHA:2169,Subtype of disorder,[Clinical subtype],Methylcobalamin deficiency type cblE,[Functional methionine synthase deficiency type cblE],,[236270],,,,,"Methylcobalamin deficiency, cbl E complementation type",TRUE,FALSE,Retired +GARD:3577,Active,Orphanet,ORPHA:2170,Subtype of disorder,[Clinical subtype],Methylcobalamin deficiency type cblG,[Functional methionine synthase deficiency type cblG],,[250940],,,,,Methylcobalamin deficiency cbl G type,TRUE,FALSE,Active +GARD:3579,Active,Orphanet,ORPHA:26,Disorder,[Disease],Methylmalonic acidemia with homocystinuria,"[Combined defect in adenosylcobalamin and methylcobalamin synthesis, Methylmalonic aciduria with homocystinuria]","A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).","[277410, 614857, 277400, 277380]",,,,,Methylmalonic acidemia with homocystinuria,TRUE,FALSE,Active +GARD:358,Active,Orphanet,ORPHA:2804,Disorder,[Malformation syndrome],W syndrome,[Pallister-W syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described.",[311450],,,,,Pallister W syndrome,TRUE,FALSE,Active +GARD:3580,Legacy,GARD,,,,,,,,,,,,Methylmalonic aciduria microcephaly cataract,TRUE,FALSE,Retired +GARD:3582,Active,Orphanet,ORPHA:79283,Subtype of disorder,[Clinical subtype],"Methylmalonic acidemia with homocystinuria, type cblD","[CblD defect, Cobalamin D defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD, Methylmalonic aciduria with homocystinuria, type cblD]","cblD type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.",[277410],,,,,Methylmalonic acidemia with homocystinuria type cblD,TRUE,FALSE,Active +GARD:3584,Active,Orphanet,ORPHA:79284,Subtype of disorder,[Clinical subtype],Methylmalonic acidemia with homocystinuria type cblF,"[CblF defect, Cobalamin F defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF, Lysosomal membrane cobalamin transporter deficiency, Methylmalonic aciduria with homocystinuria, type cblF]","cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.",[277380],,,,,Methylmalonic acidemia with homocystinuria type cblF,TRUE,FALSE,Active +GARD:3586,Active,Orphanet,ORPHA:27,Disorder,[Disease],Vitamin B12-unresponsive methylmalonic acidemia,"[Methylmalonyl-CoA mutase deficiency, Methylmalonyl-Coenzyme A mutase deficiency, Vitamin B12-unresponsive methylmalonic aciduria]","Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms).",[251000],,,,,Methylmalonyl-Coenzyme A mutase deficiency,TRUE,FALSE,Active +GARD:3588,Active,Orphanet,ORPHA:29,Subtype of disorder,[Clinical subtype],Mevalonic aciduria,"[Complete mevalonate kinase deficiency, MVA]","A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.",[610377],,,,,Mevalonic aciduria,TRUE,FALSE,Active +GARD:3589,Active,Orphanet,ORPHA:2505,Disorder,[Disease],Multiple benign circumferential skin creases on limbs,"[CCSF, Circumferential skin creases, Kunze type, Congenital circumferential skin folds, Kunze-Riehm syndrome]","A rare genetic disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. The creases often improve spontaneously in childhood. Patients also exhibit variable degrees of intellectual disability, short stature, cleft palate, and facial dysmorphism (including epicanthal folds, microphthalmia, broad nasal bridge, low-set, posteriorly rotated ears, and microstomia, among others). Variable additional features have been reported, such as seizures, infantile hypotonia, hearing impairment, strabismus, and urogenital anomalies. Brain imaging may show hypoplastic corpus callosum or mildly dilated ventricles.","[156610, 616734]",,,,,Circumferential skin creases Kunze type,TRUE,FALSE,Active +GARD:359,Active,Orphanet,ORPHA:1515,Disorder,[Malformation syndrome],Cranioectodermal dysplasia,"[CED, Sensenbrenner syndrome]","Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).","[218330, 614378, 614099, 617102, 613610]",,,,,Cranioectodermal dysplasia,TRUE,FALSE,Active +GARD:3590,Legacy,GARD,,,,,,,,,,,,Michels Caskey syndrome,TRUE,FALSE,Retired +GARD:3592,Legacy,GARD,,,,,,,,,,,,Mickleson syndrome,TRUE,FALSE,Retired +GARD:3596,Active,Orphanet,ORPHA:2511,Disorder,[Malformation syndrome],Microbrachycephaly-ptosis-cleft lip syndrome,[Richieri Costa-Guion Almeida-Ramos syndrome],"Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.",[268850],,,,,Microbrachycephaly ptosis cleft lip,TRUE,FALSE,Active +GARD:360,Active,Orphanet,ORPHA:921,Disorder,[Malformation syndrome],Abruzzo-Erickson syndrome,"[CHARGE-like syndrome, Cleft palate-coloboma-deafness syndrome, Cleft palate-coloboma-hearing loss syndrome]","An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.",[302905],,,,,Abruzzo-Erickson syndrome,TRUE,FALSE,Active +GARD:3602,Active,Orphanet,ORPHA:2643,Disorder,[Malformation syndrome],"Microcephalic primordial dwarfism, Toriello type",,"A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.",[251190],,,,,Microcephalic primordial dwarfism Toriello type,TRUE,FALSE,Active +GARD:3603,Active,Orphanet,ORPHA:199642,Disorder,[Malformation syndrome],Isolated congenital microcephaly,,"A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.",,,,,,Microcephaly,TRUE,FALSE,Active +GARD:3604,Active,Orphanet,ORPHA:2513,Disorder,[Malformation syndrome],Microcephaly-albinism-digital anomalies syndrome,[Castro Gago-Pombo-Novo syndrome],"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.",[203340],,,,,Microcephaly-albinism-digital anomalies syndrome,TRUE,FALSE,Active +GARD:3605,Active,Orphanet,ORPHA:2514,Subtype of disorder,[Etiological subtype],Autosomal dominant primary microcephaly,,"A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.","[616311, 619179, 617520, 156580, 619180]",,,,,Microcephaly autosomal dominant,TRUE,FALSE,Active +GARD:3607,Active,Orphanet,ORPHA:2523,Disorder,[Malformation syndrome],Microcephaly-brain defect-spasticity-hypernatremia syndrome,[Franek-Bocker-Kahlen syndrome],"Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986.",,,,,,Microcephaly brain defect spasticity hypernatremia,TRUE,FALSE,Active +GARD:3609,Active,Orphanet,ORPHA:2515,Disorder,[Malformation syndrome],Microcephaly-cardiomyopathy syndrome,[Winship-Viljoen-Leary syndrome],"Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.",[251220],,,,,Microcephaly-cardiomyopathy,TRUE,FALSE,Active +GARD:361,Active,Orphanet,ORPHA:945,Disorder,[Malformation syndrome],Acalvaria,[Primary acalvaria],"A rare malformation characterized by missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.",,,,,,Acalvaria,TRUE,FALSE,Active +GARD:3610,Active,Orphanet,ORPHA:2522,Disorder,[Malformation syndrome],Microcephaly-cervical spine fusion anomalies syndrome,,"Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.",[251250],,,,,Microcephaly cervical spine fusion anomalies,TRUE,FALSE,Active +GARD:3611,Legacy,GARD,,,,,,,,,,,,Microcephaly chorioretinopathy recessive form,TRUE,FALSE,Active +GARD:3614,Legacy,GARD,,,,,,,,,,,,"Microcephaly, corpus callosum dysgenesis and cleft lip-palate",TRUE,FALSE,Active +GARD:3615,Active,Orphanet,ORPHA:2172,Disorder,[Malformation syndrome],Microcephaly-glomerulonephritis-marfanoid habitus syndrome,,"A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992.",[248760],,,,,Microcephaly glomerulonephritis Marfanoid habitus,TRUE,FALSE,Active +GARD:3617,Active,Orphanet,ORPHA:2558,Disorder,[Malformation syndrome],Mikati-Najjar-Sahli syndrome,[Microcephaly-hypergonadotropic hypogonadism-short stature syndrome],"Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).",,,,,,Microcephaly hypergonadotropic hypogonadism short stature,TRUE,FALSE,Retired +GARD:362,Legacy,GARD,,,,,,,,,,,,Alpha-thalassemia-abnormal morphogenesis,TRUE,FALSE,Active +GARD:3622,Active,Orphanet,ORPHA:2526,Disorder,[Malformation syndrome],Microcephaly-lymphedema-chorioretinopathy syndrome,[MLCRD],"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.",[152950],,,,,"Lymphedema, microcephaly and chorioretinopathy syndrome",TRUE,FALSE,Active +GARD:3627,Active,Orphanet,ORPHA:2528,Disorder,[Malformation syndrome],"Microcephaly-microcornea syndrome, Seemanova type",[Seemanova-Lesny syndrome],"Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.",,,,,,Microcephaly microcornea syndrome Seemanova type,TRUE,FALSE,Active +GARD:3628,Legacy,GARD,,,,,,,,,,,,Microcephaly micropenis convulsions,TRUE,FALSE,Active +GARD:3629,Legacy,GARD,,,,,,,,,,,,Microcephaly microphthalmos blindness,TRUE,FALSE,Active +GARD:363,Active,Orphanet,ORPHA:926,Disorder,[Disease],Acatalasemia,[Catalase deficiency],"A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations.",[614097],,,,,Acatalasemia,TRUE,FALSE,Active +GARD:3630,Legacy,GARD,,,,,,,,,,,,Microcephaly nonsyndromal,TRUE,FALSE,Active +GARD:3631,Legacy,GARD,,,,,,,,,,,,Microcephaly pontocerebellar hypoplasia dyskinesia,TRUE,FALSE,Retired +GARD:3632,Legacy,GARD,,,,,,,,,,,,Microcephaly seizures mental retardation heart disorders,TRUE,FALSE,Retired +GARD:3633,Legacy,GARD,,,,,,,,,,,,Microcephaly sparse hair mental retardation seizures,TRUE,FALSE,Retired +GARD:3635,Active,Orphanet,ORPHA:566,Disorder,[Malformation syndrome],Congenital microcoria,[Congenital miosis],"Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.",[156600],,,,,Congenital microcoria,TRUE,FALSE,Active +GARD:3636,Legacy,GARD,,,,,,,,,,,,Microcornea corectopia macular hypoplasia,TRUE,FALSE,Active +GARD:3637,Active,Orphanet,ORPHA:2536,Disorder,[Malformation syndrome],Microcornea-glaucoma-absent frontal sinuses syndrome,,"A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.",[156700],,,,,"Microcornea, glaucoma, and absent frontal sinuses",TRUE,FALSE,Active +GARD:3638,Legacy,GARD,,,,,,,,,,,,Microdontia hypodontia short stature,TRUE,FALSE,Active +GARD:364,Active,Orphanet,ORPHA:1134,Disorder,[Malformation syndrome],Isolated arrhinia,[Isolated nose agenesis],"An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.",,,,,,Arrhinia,TRUE,FALSE,Active +GARD:3640,Active,Orphanet,ORPHA:2538,Disorder,[Malformation syndrome],Microgastria-limb reduction defect syndrome,,"A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.",[156810],,,,,Microgastria limb reduction defect,TRUE,FALSE,Active +GARD:3642,Legacy,GARD,,,,,,,,,,,,Spondyloepimetaphyseal dysplasia micromelic,TRUE,FALSE,Active +GARD:3643,Active,Orphanet,ORPHA:93328,Subtype of disorder,[Clinical subtype],Autosomal dominant omodysplasia,,,[164745],,,,,Omodysplasia 2,TRUE,FALSE,Active +GARD:3644,Active,Orphanet,ORPHA:98938,Disorder,[Malformation syndrome],Colobomatous microphthalmia,"[MAC, Microphthalmia with colobomatous cyst, Microphthalmia-anophthalmia-coloboma syndrome]",Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.,"[616428, 251505, 300345, 614497, 613703, 615145, 611638, 610092, 601186, 605738]",,,,,Microphthalmia associated with colobomatous cyst,TRUE,FALSE,Active +GARD:3645,Active,Orphanet,ORPHA:139471,Disorder,[Malformation syndrome],Microphthalmia with brain and digit anomalies,"[Bakrania-Ragge syndrome, MCOPS6, Syndromic microphthalmia type 6]","Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.",[607932],,,,,Microphthalmia syndromic 6,TRUE,FALSE,Active +GARD:3647,Legacy,GARD,,,,,,,,,,,,Microphthalmia cataract,TRUE,FALSE,Retired +GARD:365,Active,Orphanet,ORPHA:91,Disorder,[Disease],Aromatase deficiency,[Congenital estrogen deficiency],"A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.",[613546],,,,,Aromatase deficiency,TRUE,FALSE,Active +GARD:3650,Active,Orphanet,ORPHA:2547,Disorder,[Malformation syndrome],Microphthalmia-microtia-fetal akinesia syndrome,[Thomas-Jewett-Raines syndrome],"A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.",,,,,,Microphthalmia microtia fetal akinesia,TRUE,FALSE,Active +GARD:3652,Active,Orphanet,ORPHA:727,Disorder,[Disease],Microscopic polyangiitis,"[MPA, Micropolyangiitis, Microscopic polyarteritis]","A rare inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs, including the kidney, the lungs, the skin and the peripheral nerves.",,,,,,Microscopic polyangiitis,TRUE,FALSE,Active +GARD:3653,Active,Orphanet,ORPHA:2549,Disorder,[Malformation syndrome],Oculoauriculovertebral spectrum with radial defects,"[Hemifacial microsomia-radial defects syndrome, Moeschler-Clarren syndrome]","A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.",[141400],,,,,Microsomia hemifacial radial defects,TRUE,FALSE,Active +GARD:3655,Active,Orphanet,ORPHA:2552,Disorder,[Disease],Microsporidiosis,,Microsporidiosis is a parasitosis caused by microsporidia (protozoan parasites).,,,,,,Microsporidiosis,TRUE,FALSE,Active +GARD:3657,Legacy,GARD,,,,,,,,,,,,"Microtia, meatal atresia and conductive deafness",TRUE,FALSE,Active +GARD:3659,Active,Orphanet,ORPHA:2556,Disorder,[Malformation syndrome],Microphthalmia with linear skin defects syndrome,"[MCOPS7, MIDAS syndrome, MLS syndrome, Microphthalmia-dermal aplasia-sclerocornea syndrome, Syndromic microphthalmia type 7]","MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.","[309801, 300952, 300887]",,,,,Microphthalmia with linear skin defects syndrome,TRUE,FALSE,Active +GARD:366,Legacy,GARD,,,,,,,,,,,,Arnold Stickler Bourne syndrome,TRUE,FALSE,Active +GARD:3660,Legacy,GARD,,,,,,,,,,,,Midline cleft of lower lip,TRUE,FALSE,Active +GARD:3668,Active,Orphanet,ORPHA:98919,Disorder,[Disease],Miller Fisher syndrome,"[Cranial variant of GBS, Cranial variant of Guillain-Barré syndrome, Fisher syndrome]",Miller-Fisher syndrome (MFS) is a rare cranial nerve variant of Guillain-Barré syndrome (GBS; see this term).,,,,,,Miller-Fisher syndrome,TRUE,FALSE,Active +GARD:3669,Active,Orphanet,ORPHA:531,Disorder,[Malformation syndrome],Miller-Dieker syndrome,"[Lissencephaly due to 17p13.3 deletion, Monosomy 17p13.3, Telomeric deletion 17p]","Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.",[247200],,,,,Miller-Dieker syndrome,TRUE,FALSE,Active +GARD:3670,Legacy,GARD,,,,,,,,,,,,Milner Khallouf Gibson syndrome,TRUE,FALSE,Active +GARD:3671,Active,Orphanet,ORPHA:255210,Disorder,[Disease],Mitochondrial DNA-associated Leigh syndrome,"[MILS, Maternally-inherited Leigh disease, Maternally-inherited infantile subacute necrotizing encephalopathy, mtDNA-associated Leigh syndrome]","Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.",[256000],,,,,Mitochondrial DNA-associated Leigh syndrome,TRUE,FALSE,Active +GARD:3672,Active,Orphanet,ORPHA:90031,Disorder,[Disease],Non-spherocytic hemolytic anemia due to hexokinase deficiency,,"Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in HK1, the gene that encodes red blood cell-specific hexokinase-R.",[235700],,,,,Nonspherocytic hemolytic anemia due to hexokinase deficiency,TRUE,FALSE,Active +GARD:3676,Legacy,GARD,,,,,,,,,,,,Mirror polydactyly segmentation and limbs defects,TRUE,FALSE,Active +GARD:368,Active,Orphanet,ORPHA:2407,Disorder,[Disease],Laryngo-onycho-cutaneous syndrome,"[LOC syndrome, LOGIC syndrome, Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome, Shabbir syndrome]","LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.",[245660],,,,,Laryngoonychocutaneous syndrome,TRUE,FALSE,Active +GARD:3681,Active,Orphanet,ORPHA:1933,Disorder,[Disease],"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria","[Booth-Haworth-Dilling syndrome, Mitochondrial encephalomyopathy-aminoacidopathy syndrome, mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria]","A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria.",[612073],,,,,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",TRUE,FALSE,Active +GARD:3682,Active,Orphanet,ORPHA:2597,Disorder,[Disease],Mitochondrial myopathy-lactic acidosis-deafness syndrome,[Mitochondrial myopathy-lactic acidosis-hearing loss syndrome],"A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.",[251950],,,,,Mitochondrial myopathy with lactic acidosis,TRUE,FALSE,Active +GARD:3684,Active,Orphanet,ORPHA:746,Disorder,[Disease],Mitochondrial trifunctional protein deficiency,"[TFP deficiency, TFPD]","A rare disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..",[609015],,,,,Mitochondrial trifunctional protein deficiency,TRUE,FALSE,Active +GARD:3685,Active,Orphanet,ORPHA:1205,Disorder,[Morphological anomaly],Mitral atresia,,"A rare congenital non-syndromic heart malformation characterized by an imperforate or absent mitral valve. In most cases, there is a univentricular atrioventricular connection to a dominant right ventricle via a tricuspid valve, and a hypoplastic left ventricle. Morphologic heterogeneity is considerable, and hemodynamic picture and clinical manifestation depend on the type and severity of associated cardiovascular anomalies (such as ventricular septal defect or aortic atresia).",,,,,,Mitral atresia,TRUE,FALSE,Active +GARD:3687,Active,Orphanet,ORPHA:741,Disorder,[Morphological anomaly],Familial mitral valve prolapse,,"A rare familial congenital mitral malformation characterized by systolic displacement of one or both mitral leaflets >2 mm beyond the annular plane into the left atrium. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Patients may remain asymptomatic or develop complications such as severe mitral regurgitation, endocarditis, and heart failure.","[610840, 157700, 607829]",,,,,"Mitral valve prolapse, familial, autosomal dominant",TRUE,FALSE,Active +GARD:3688,Active,Orphanet+OMIM,OMIM:157700,Subtype of disorder,[Morphological anomaly subtype],Mitral valve prolapse 1,,"Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP ({14:Freed et al., 1999}; {16:Grau et al., 2007}; {9:Delling and Vasan, 2014}).\n\n{16:Grau et al. (2007)} provided a detailed review of the genetics of mitral valve prolapse. {9:Delling and Vasan (2014)} reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis.\n\n<Subhead> Genetic Heterogeneity of Familial Mitral Valve Prolapse\n\nThe locus for MVP1 has been mapped to chromosome 16p; the locus for MVP2 ({607829}) has been mapped to chromosome 11p.\n\nMitral valve prolapse-3 (MVP3; {610840}) is caused by mutation in the DZIP1 gene ({608671}) on chromosome 13q32.",[157700],[741],[Familial mitral valve prolapse],[3687],,"Mitral valve prolapse, familial, X-linked",TRUE,FALSE,Active +GARD:3689,Legacy,GARD,,,,,,,,,,,,Miura syndrome,TRUE,FALSE,Retired +GARD:369,Active,Orphanet,ORPHA:1435,Disorder,[Malformation syndrome],Xq21 microdeletion syndrome,"[Ayazi syndrome, Del(X)(q21), Monosomy Xq21]","An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.",[303110],,,,,Ayazi syndrome,TRUE,FALSE,Active +GARD:3690,Active,Orphanet,ORPHA:1879,Disorder,[Malformation syndrome],Melorheostosis with osteopoikilosis,"[MSBD syndrome, Mixed sclerosing bone dystrophy]","Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.",,,,,,Melorheostosis with osteopoikilosis,TRUE,FALSE,Active +GARD:3692,Active,Orphanet,ORPHA:178364,Disorder,[Malformation syndrome],Syndromic microphthalmia type 5,"[MCOPS5, Syndromic microphthalmia/anophthalmia due to OTX2 mutation]","Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.",[610125],,,,,Microphthalmia syndromic 5,TRUE,FALSE,Active +GARD:3693,Active,Orphanet,ORPHA:3434,Disorder,[Malformation syndrome],MMEP syndrome,"[MCOPS8, Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome, Syndromic microphthalmia type 8, Viljoen-Smart syndrome]","The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.",[601349],,,,,Microphthalmia syndromic 8,TRUE,FALSE,Active +GARD:3695,Legacy,GARD,,,,,,,,,,,,MN1,FALSE,FALSE,Retired +GARD:3697,Active,Orphanet,ORPHA:552,Disorder,[Disease],MODY,[Maturity-onset diabetes of the young],"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.","[616329, 616511, 125851, 613375, 606392, 610508, 612225, 609812, 606394, 613370, 125850, 600496, 606391]",,,,,Maturity-onset diabetes of the young,TRUE,FALSE,Active +GARD:3698,Active,Orphanet,ORPHA:2560,Disorder,[Malformation syndrome],Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome,,A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996.,,,,,,Moebius axonal neuropathy hypogonadism,TRUE,FALSE,Active +GARD:3699,Active,Orphanet,ORPHA:2059,Disorder,[Malformation syndrome],Fryns syndrome,[Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome],"A rare multiple congenital anomaly syndrome characterized by congenital diaphragmatic hernia (CDH) and pulmonary hypoplasia, distal limb hypoplasia and facial anomalies in addition to variable expression of additional birth defects.",[229850],,,,,Fryns syndrome,TRUE,FALSE,Active +GARD:37,Active,Orphanet,ORPHA:261875,Group of disorders,[Category],Partial deletion of the short arm of chromosome 3,"[Partial deletion of chromosome 3p, Partial monosomy of chromosome 3p, Partial monosomy of the short arm of chromosome 3]",,,,,,,Partial deletion of the short arm of chromosome 3,TRUE,FALSE,Active +GARD:370,Active,Orphanet,ORPHA:1414,Disorder,[Disease],Cholestasis-lymphedema syndrome,[Aagenaes syndrome],"Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.",[214900],,,,,Aagenaes syndrome,TRUE,FALSE,Active +GARD:3701,Active,Orphanet,ORPHA:2751,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 2,"[Mohr syndrome, OFD2, Oral-facial-digital syndrome type 2]","Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.",[252100],,,,,Orofaciodigital syndrome 2,TRUE,FALSE,Active +GARD:3703,Legacy,GARD,,,,,,,,,,,,"Dwarfism, intellectual disability and eye abnormality",TRUE,FALSE,Retired +GARD:3704,Active,Orphanet,ORPHA:1433,Disorder,[Malformation syndrome],Choroidal atrophy-alopecia syndrome,"[Moloney syndrome, Regional choroidal atrophy and alopecia]","A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.",,,,,,Moloney syndrome,TRUE,FALSE,Active +GARD:3705,Active,Orphanet,ORPHA:99732,Subtype of disorder,[Clinical subtype],Sulfite oxidase deficiency due to molybdenum cofactor deficiency,"[Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase, MOCOD]",,"[252160, 615501, 252150]",,,,,Molybdenum cofactor deficiency,TRUE,FALSE,Active +GARD:3707,Active,Orphanet,ORPHA:2564,Disorder,[Malformation syndrome],Tetramelic monodactyly,[Sommer-Hines syndrome],"Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.",[187510],,,,,Tetramelic monodactyly,TRUE,FALSE,Active +GARD:371,Active,Orphanet,ORPHA:3010,Disorder,[Disease],Qazi-Markouizos syndrome,[Dysharmonic skeletal maturation-muscular fiber disproportion syndrome],"A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be assoicated. There have been no further descriptions in the literature since 1994.",[600096],,,,,Qazi Markouizos syndrome,TRUE,FALSE,Active +GARD:3711,Active,Orphanet,ORPHA:96148,Disorder,[Malformation syndrome],Distal monosomy 10q,"[Distal deletion 10q, Monosomy 10qter, Telomeric deletion 10q]","Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.",[609625],,,,,Chromosome 10q deletion,TRUE,FALSE,Active +GARD:372,Active,Orphanet,ORPHA:638,Disorder,[Malformation syndrome],Neurofibromatosis-Noonan syndrome,"[NFNS, Neurofibromatosis type 1-Noonan syndrome]","Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).",[601321],,,,,Neurofibromatosis-Noonan syndrome,TRUE,FALSE,Active +GARD:3722,Legacy,GARD,,,,,,,,,,,,Chromosome 14q deletion,TRUE,FALSE,Active +GARD:3726,Legacy,GARD,,,,,,,,,,,,Mosaic monosomy 18,TRUE,FALSE,Active +GARD:373,Active,Orphanet,ORPHA:346,Disorder,[Disease],Quinquaud folliculitis decalvans,,"A rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.",,,,,,Quinquaud folliculitis decalvans,TRUE,FALSE,Active +GARD:3730,Legacy,GARD,,,,,,,,,,,,Chromosome 1p deletion,TRUE,FALSE,Active +GARD:3738,Active,Orphanet,ORPHA:250999,Disorder,[Malformation syndrome],1q41q42 microdeletion syndrome,"[Del(1)(q41q42), Monosomy 1q41q42]","1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.",[612530],,,,,Chromosome 1q41-q42 deletion syndrome,TRUE,FALSE,Active +GARD:3739,Legacy,GARD,,,,,,,,,,,,Chromosome 20p deletion,TRUE,FALSE,Active +GARD:374,Active,Orphanet,ORPHA:2835,Disorder,[Malformation syndrome],Pectus excavatum-macrocephaly-dysplastic nails syndrome,[Zori-Stalker-Williams syndrome],"Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.",[600399],,,,,Zori Stalker Williams syndrome,TRUE,FALSE,Active +GARD:3744,Legacy,GARD,,,,,,,,,,,,Chromosome 2q deletion,TRUE,FALSE,Active +GARD:3746,Active,Orphanet,ORPHA:1617,Disorder,[Malformation syndrome],2q24 microdeletion syndrome,"[Del(2)(q24), Monosomy 2q24]","2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.",,,,,,Chromosome 2q24 microdeletion syndrome,TRUE,FALSE,Active +GARD:375,Active,Orphanet,ORPHA:3253,Disorder,[Malformation syndrome],Cleft lip/palate-ectodermal dysplasia syndrome,"[CLPED1, Cleft lip/palate-syndactyly-pili torti syndrome, Syndactyly-ectodermal dysplasia-cleft/lip palate, Zlotogora-Ogur syndrome]","Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.",[225060],,,,,Zlotogora syndrome,TRUE,FALSE,Active +GARD:3750,Active,Orphanet,ORPHA:1620,Disorder,[Malformation syndrome],Distal monosomy 3p,"[3p- syndrome, Distal 3p deletion, Monosomy 3pter, Telomeric monosomy 3p]","Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.",[613792],,,,,Chromosome 3p- syndrome,TRUE,FALSE,Active +GARD:376,Active,Orphanet,ORPHA:931,Disorder,[Morphological anomaly],Acheiropodia,[Acheiropody],"An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.",[200500],,,,,Acheiropody,TRUE,FALSE,Active +GARD:3760,Legacy,GARD,,,,,,,,,,,,Chromosome 6q deletion,TRUE,FALSE,Active +GARD:3764,Active,Orphanet,ORPHA:251056,Disorder,[Malformation syndrome],6q25 microdeletion syndrome,"[Del(6)(q25), Monosomy 6q25]","6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.",[612863],,,,,Chromosome 6q25 microdeletion syndrome,TRUE,FALSE,Active +GARD:3765,Active,Orphanet,ORPHA:495930,Disorder,[Disease],Familial monosomy 7 syndrome,,"A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.","[252270, 619041]",,,,,Chromosome 7q deletion,TRUE,FALSE,Active +GARD:3768,Legacy,GARD,,,,,,,,,,,,Chromosome 8p deletion,TRUE,FALSE,Active +GARD:3769,Active,Orphanet,ORPHA:251071,Disorder,[Malformation syndrome],8p23.1 microdeletion syndrome,"[Del(8)(p23.1), Monosomy 8p23.1]","8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.",,,,,,Chromosome 8p23.1 deletion,TRUE,FALSE,Active +GARD:377,Active,Orphanet,ORPHA:973,Disorder,[Morphological anomaly],"Congenital absence/hypoplasia of fingers excluding thumb, unilateral","[Adactyly of hand, unilateral, Digits 2-5 hypodactyly, unilateral, Digits 2-5 oligodactyly, unilateral]","Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.",[102650],,,,,Adactylia unilateral,TRUE,FALSE,Active +GARD:3770,Legacy,GARD,,,,,,,,,,,,Chromosome 8q deletion,TRUE,FALSE,Active +GARD:3773,Active,Orphanet,ORPHA:261112,Disorder,[Malformation syndrome],Monosomy 9p,"[9p deletion syndrome, 9p- syndrome, Alfi syndrome]","Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.",[158170],,,,,Chromosome 9p deletion,TRUE,FALSE,Active +GARD:3775,Legacy,GARD,,,,,,,,,,,,X-linked susceptibility to autism-4,TRUE,FALSE,Active +GARD:3776,Legacy,GARD,,,,,,,,,,,,Chromosome Xq28 deletion syndrome,TRUE,FALSE,Retired +GARD:3777,Legacy,GARD,,,,,,,,,,,,Montefiore syndrome,TRUE,FALSE,Retired +GARD:378,Active,Orphanet,ORPHA:2316,Disorder,[Malformation syndrome],Johnson neuroectodermal syndrome,"[Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome, Alopecia-anosmia-deafness-hypogonadism syndrome, Johnson-McMillin syndrome]","Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.",[147770],,,,,Johnson neuroectodermal syndrome,TRUE,FALSE,Active +GARD:3784,Legacy,GARD,,,,,,,,,,,,Morillo-Cucci-Passarge syndrome,TRUE,FALSE,Retired +GARD:3785,Active,Orphanet,ORPHA:309297,Subtype of disorder,[Clinical subtype],Mucopolysaccharidosis type 4A,"[GALNS deficiency, Galactosamine-6-sulfatase deficiency, MPS4A, MPSIVA, Morquio disease type A, Mucopolysaccharidosis type IVA, N-acetylgalactosamine-6-sulfate sulfatase deficiency]",,[253000],,,,,Mucopolysaccharidosis type IVA,TRUE,FALSE,Active +GARD:3786,Active,Orphanet,ORPHA:309310,Subtype of disorder,[Clinical subtype],Mucopolysaccharidosis type 4B,"[Beta-D-galactosidase deficiency, MPS4B, MPSIVB, Morquio disease type B, Mucopolysaccharidosis type IVB]",,[253010],,,,,Morquio syndrome B,TRUE,FALSE,Active +GARD:3787,Active,Orphanet,ORPHA:97282,Disorder,[Disease],VIPoma,"[Diarrheogenic islet cell tumor, Pancreatic cholera, VIP-secreting tumor, Verner-Morrison syndrome, WDHA syndrome, Watery diarrhea-hypokalemia-achlorhydria syndrome]","VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).",,,,,,WDHA syndrome,TRUE,FALSE,Active +GARD:3788,Active,Orphanet,ORPHA:2570,Disorder,[Malformation syndrome],Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,[Morse-Rawnsley-Sargent syndrome],"A rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.",[306990],,,,,Morse-Rawnsley-Sargent syndrome,TRUE,FALSE,Active +GARD:379,Active,Orphanet,ORPHA:3033,Disorder,[Malformation syndrome],Renal tubular dysgenesis,"[Primitive renal tubule syndrome, Renotubular dysgenesis]","A rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat, low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects), and skull ossification defects.",[267430],,,,,Renal tubular dysgenesis,TRUE,FALSE,Active +GARD:3791,Active,Orphanet,ORPHA:2400,Disorder,[Disease],Peripheral motor neuropathy-dysautonomia syndrome,[Lisker-Garcia-Ramos syndrome],"Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.",[252320],,,,,Motor neuropathy peripheral with dysautonomia,TRUE,FALSE,Retired +GARD:3792,Legacy,GARD,,,,,,,,,,,,Motor sensory neuropathy type 1 aplasia cutis congenita,TRUE,FALSE,Retired +GARD:3793,Active,Orphanet,ORPHA:3347,Disorder,[Clinical syndrome],Mounier-Kühn syndrome,"[Congenital tracheobronchomegaly, Idiopathic tracheobronchomegaly, Tracheobronchomegaly]",A rare congenital respiratory disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.,[275300],,,,,Mounier-Kuhn syndrome,TRUE,FALSE,Active +GARD:3795,Active,Orphanet,ORPHA:2572,Disorder,[Disease],Spastic ataxia-corneal dystrophy syndrome,"[Bedouin spastic ataxia syndrome, Mousa-Al Din-Al Nassar syndrome, Spastic ataxia-ocular anomalies syndrome]","Spastic ataxia-corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.",[271320],,,,,Mousa Al din Al Nassar syndrome,TRUE,FALSE,Active +GARD:380,Active,Orphanet,ORPHA:1571,Disorder,[Malformation syndrome],Knobloch syndrome,"[Knobloch-Layer syndrome, Retinal detachment-occipital encephalocele syndrome]","A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.",[267750],,,,,Knobloch syndrome,TRUE,FALSE,Active +GARD:3800,Legacy,GARD,,,,,,,,,,,,MSBD syndrome,TRUE,FALSE,Active +GARD:3806,Active,Orphanet,ORPHA:577,Disorder,[Disease],Mucolipidosis type III,[Pseudo-Hurler polydystrophy],"A rare lysosomal disease characterized by dysmorphic features and skeletal changes, restricted joint mobility, short stature, and hand deformities (such as claw hands, stiffness of hands, carpal tunnel syndrome, inability to make fists). Most patients have normal intellectual capacity and the clinical progression is less rapid than that of mucolipidosis type II (MLII).","[252605, 252600]",,,,,Mucolipidosis III alpha/beta,TRUE,FALSE,Active +GARD:3807,Active,Orphanet,ORPHA:581,Disorder,[Disease],Mucopolysaccharidosis type 3,"[MPS3, MPSIII, Mucopolysaccharidosis type III, Sanfilippo disease]",Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.,"[252900, 252940, 252920, 252930]",,,,,Mucopolysaccharidosis type III,TRUE,FALSE,Active +GARD:381,Active,Orphanet,ORPHA:1129,Disorder,[Malformation syndrome],Arachnodactyly-abnormal ossification-intellectual disability syndrome,[Kosztolanyi syndrome],"A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.",,,,,,Kosztolanyi syndrome,TRUE,FALSE,Active +GARD:3812,Legacy,GARD,,,,,,,,,,,,Muller Barth Menger syndrome,TRUE,FALSE,Active +GARD:3818,Active,Orphanet,ORPHA:2774,Disorder,[Malformation syndrome],Multicentric carpo-tarsal osteolysis with or without nephropathy,[Idiopathic multicentric osteolysis with or without nephropathy],"A very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.",[166300],,,,,Multicentric osteolysis nephropathy,TRUE,FALSE,Retired +GARD:3820,Legacy,GARD,,,,,,,,,,,,Multifocal motor neuropathy with conduction block (retired),TRUE,FALSE,Retired +GARD:3824,Active,Orphanet,ORPHA:148,Group of disorders,[Clinical group],Multiple carboxylase deficiency,[MCD],"A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.",,,,,,Multiple carboxylase deficiency,TRUE,FALSE,Active +GARD:3826,Legacy,GARD,,,,,,,,,,,,"Multiple congenital anomalies mental retardation, growth failure and cleft lip palate",TRUE,FALSE,Retired +GARD:3829,Active,Orphanet,ORPHA:652,Disorder,[Disease],Multiple endocrine neoplasia type 1,"[MEN1, Wermer syndrome]","A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.",[131100],,,,,Multiple endocrine neoplasia type 1,TRUE,FALSE,Active +GARD:383,Active,Orphanet,ORPHA:53,Disorder,[Malformation syndrome],Albers-Schönberg osteopetrosis,[Osteopetrosis autosomal dominant type 2],A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).,[166600],,,,,Osteopetrosis autosomal dominant type 2,TRUE,FALSE,Active +GARD:3830,Active,Orphanet,ORPHA:653,Disorder,[Disease],Multiple endocrine neoplasia type 2,[MEN2],A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism.,"[162300, 155240, 171400]",,,,,Multiple endocrine neoplasia type 2,TRUE,FALSE,Active +GARD:3831,Legacy,GARD,,,,,,,,,,,,Multiple fibrofolliculoma familial,TRUE,FALSE,Active +GARD:3833,Legacy,GARD,,,,,,,,,,,,Multiple joint dislocations metaphyseal dysplasia,TRUE,FALSE,Retired +GARD:3834,Active,Orphanet,ORPHA:33108,Disorder,[Malformation syndrome],Lethal multiple pterygium syndrome,"[Autosomal recessive lethal multiple pterygium syndrome, LMPS]","A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present.",[253290],,,,,Multiple pterygium syndrome lethal type,TRUE,FALSE,Active +GARD:3836,Active,Orphanet,ORPHA:3237,Disorder,[Malformation syndrome],Multiple synostoses syndrome,"[Deafness-Hermann type symphalangism syndrome, Facio-audio-symphalangism, Hearing loss-Hermann type symphalangism syndrome, Symphalangism-brachydactyly syndrome, WL syndrome]","Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.","[186500, 610017, 612961]",,,,,Multiple synostoses syndrome 1,TRUE,FALSE,Active +GARD:3837,Legacy,GARD,,,,,,,,,,,,Multiple vertebral anomalies unusual facies,TRUE,FALSE,Retired +GARD:384,Active,Orphanet,ORPHA:978,Disorder,[Malformation syndrome],ADULT syndrome,"[Acro-dermato-ungual-lacrimal-tooth syndrome, Pigment anomaly-ectrodactyly-hypodontia syndrome]","A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.",[103285],,,,,ADULT syndrome,TRUE,FALSE,Active +GARD:3842,Legacy,GARD,,,,,,,,,,,,"Muscular dystrophy, congenital, infantile with cataract and hypogonadism",TRUE,FALSE,Active +GARD:3843,Active,Orphanet,ORPHA:258,Disorder,[Malformation syndrome],Laminin subunit alpha 2-related congenital muscular dystrophy,"[CMD1A, Congenital muscular dystrophy due to laminin alpha2 deficiency, Congenital muscular dystrophy type 1A, MDC1A, Merosin-negative congenital muscular dystrophy]","Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.","[607855, 618138]",,,,,Congenital muscular dystrophy type 1A,TRUE,FALSE,Active +GARD:3844,Active,Orphanet,ORPHA:1878,Disorder,[Disease],TRIM32-related limb-girdle muscular dystrophy R8,"[Autosomal recessive limb-girdle muscular dystrophy type 2H, LGMD due to TRIM32 deficiency, LGMD type 2H, LGMD2H, Limb-girdle muscular dystrophy due to TRIM32 deficiency, Limb-girdle muscular dystrophy type 2H, Sarcotubular myopathy, TRIM32-related LGMD R8]","A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.",[254110],,,,,Limb-girdle muscular dystrophy type 2H,TRUE,FALSE,Active +GARD:3845,Legacy,GARD,,,,,,,,,,,,"Muscular dystrophy limb girdle type 2A, Erb type",TRUE,FALSE,Active +GARD:385,Active,Orphanet,ORPHA:3473,Disorder,[Malformation syndrome],Zimmermann-Laband syndrome,"[Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome, Laband syndrome]","A rare genetic multiple congenital anomalies syndrome characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.","[135500, 618658, 616455]",,,,,Laband syndrome,TRUE,FALSE,Active +GARD:3851,Active,Orphanet,ORPHA:119,Disorder,[Disease],Beta-sarcoglycan-related limb-girdle muscular dystrophy R4,"[Autosomal recessive limb-girdle muscular dystrophy type 2E, Beta-sarcoglycan-related LGMD R4, Beta-sarcoglycanopathy, LGMD due to beta-sarcoglycan deficiency, LGMD type 2E, LGMD2E, Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency, Limb-girdle muscular dystrophy type 2E]","A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.",[604286],,,,,Limb-girdle muscular dystrophy type 2E,TRUE,FALSE,Active +GARD:3854,Legacy,GARD,,,,,,,,,,,,Muscular dystrophy white matter spongiosis,TRUE,FALSE,Active +GARD:3855,Legacy,GARD,,,,,,,,,,,,"Muscular dystrophy, congenital, merosin-positive",TRUE,FALSE,Active +GARD:3856,Active,Orphanet,ORPHA:64755,Disorder,[Disease],Becker nevus syndrome,[Pigmentary hairy epidermal nevus],"A rare, syndromic, benign, epidermal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy.",[604919],,,,,Becker nevus syndrome,TRUE,FALSE,Active +GARD:3857,Legacy,GARD,,,,,,,,,,,,Muscular fibrosis multifocal obstructed vessels,TRUE,FALSE,Active +GARD:3858,Active,Orphanet,ORPHA:715,Disorder,[Disease],Glycogen storage disease due to muscle phosphorylase kinase deficiency,"[GSD due to muscle phosphorylase kinase deficiency, GSD type 9D, GSD type 9E, GSD type IXd, GSD type IXe, Glycogen storage disease type 9D, Glycogen storage disease type 9E, Glycogen storage disease type IXd, Glycogen storage disease type IXe, Glycogenosis due to muscle phosphorylase kinase deficiency, Glycogenosis type 9D, Glycogenosis type 9E, Glycogenosis type IXd, Glycogenosis type IXe]",Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.,[300559],,,,,Muscular phosphorylase kinase deficiency,TRUE,FALSE,Active +GARD:386,Active,Orphanet,ORPHA:3301,Disorder,[Malformation syndrome],Tetraamelia-multiple malformations syndrome,[Zimmer phocomelia],"An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.","[273395, 618021]",,,,,Tetraamelia-multiple malformations syndrome,TRUE,FALSE,Active +GARD:3860,Legacy,GARD,,,,,,,,,,,,Myalgia eosinophilia associated with tryptophan,TRUE,FALSE,Retired +GARD:3862,Active,Orphanet,ORPHA:2583,Disorder,[Disease],Mycetoma,[Madura foot],Subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.,,,,,,Mycetoma,TRUE,FALSE,Active +GARD:3863,Active,Orphanet,ORPHA:2584,Disorder,[Disease],Classic mycosis fungoides,"[Mycosis fungoides, Alibert-Bazin type]","Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.",[254400],,,,,Mycosis fungoides,TRUE,FALSE,Active +GARD:3865,Active,Orphanet,ORPHA:2585,Disorder,[Malformation syndrome],Ataxia-pancytopenia syndrome,[Myelocerebellar disorder],"A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.",[159550],,,,,Myelocerebellar disorder,TRUE,FALSE,Active +GARD:3867,Legacy,GARD,,,,,,,,,,,,Myeloid splenomegaly,TRUE,FALSE,Active +GARD:3868,Active,Orphanet,ORPHA:2587,Disorder,[Disease],Myeloperoxidase deficiency,[MPO deficiency],"A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.",[254600],,,,,Myeloperoxidase deficiency,TRUE,FALSE,Active +GARD:387,Active,Orphanet,ORPHA:911,Disorder,[Disease],Combined immunodeficiency due to ZAP70 deficiency,[Zeta-associated-protein 70 deficiency],"A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.",[269840],,,,,ZAP-70 deficiency,TRUE,FALSE,Active +GARD:3872,Active,Orphanet,ORPHA:280620,Disorder,[Disease],Progressive myoclonic epilepsy type 6,"[EPM6, GOSR2-related progressive myoclonus ataxia, North Sea progressive myoclonus epilepsy, PME type 6, Progressive myoclonus epilepsy type 6]","A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.",[614018],,,,,GOSR2-related progressive myoclonus ataxia,TRUE,FALSE,Active +GARD:3873,Active,Orphanet,ORPHA:2589,Disorder,[Malformation syndrome],Myoclonus-cerebellar ataxia-deafness syndrome,[Myoclonus-cerebellar ataxia-hearing loss syndrome],"This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.",[159800],,,,,Myoclonus cerebellar ataxia deafness,TRUE,FALSE,Active +GARD:3875,Active,Orphanet,ORPHA:2590,Disorder,[Disease],Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,"[Hereditary myoclonus-progressive distal muscular atrophy syndrome, Jankovic-Rivera syndrome, SMA-PME]",Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.,[159950],,,,,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,TRUE,FALSE,Active +GARD:3876,Active,Orphanet,ORPHA:308,Disorder,[Malformation syndrome],Progressive myoclonic epilepsy type 1,"[EPM1, Progressive myoclonus epilepsy type 1, ULD, Unverricht-Lundborg disease]","A rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.","[254800, 612437, 310370]",,,,,Unverricht-Lundborg disease,TRUE,FALSE,Active +GARD:3878,Legacy,GARD,,,,,,,,,,,,Myoglobinuria dominant form,TRUE,FALSE,Retired +GARD:3879,Active,Orphanet+OMIM,OMIM:550500,Subtype of disorder,[Disease subtype],"Myoglobinuria, recurrent",,,[550500],[99845],[Genetic recurrent myoglobinuria],[16916],,Myoglobinuria recurrent,TRUE,FALSE,Active +GARD:388,Legacy,GARD,,,,,,,,,,,,"Brachial amelia, forebrain defects and facial clefts",TRUE,FALSE,Retired +GARD:3881,Active,Orphanet,ORPHA:2596,Disorder,[Disease],Myopathy and diabetes mellitus,,"A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.",[500002],,,,,Mitochondrial myopathy with diabetes,TRUE,FALSE,Active +GARD:3883,Legacy,GARD,,,,,,,,,,,,Myopathy congenital multicore with external ophthalmoplegia,TRUE,FALSE,Retired +GARD:3884,Active,Orphanet,ORPHA:2593,Disorder,[Disease],Tubular aggregate myopathy,,"A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described.","[160565, 615883]",,,,,Tubular aggregate myopathy,TRUE,FALSE,Active +GARD:3885,Active,Orphanet,ORPHA:2598,Disorder,[Disease],Mitochondrial myopathy and sideroblastic anemia,"[MLASA, Myopathy, lactic acidosis and sideroblastic anemia]","Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.","[600462, 500011, 613561]",,,,,Mitochondrial myopathy and sideroblastic anemia,TRUE,FALSE,Active +GARD:3886,Legacy,GARD,,,,,,,,,,,,Myopathy growth and mental retardation hypospadias,TRUE,FALSE,Retired +GARD:3888,Legacy,GARD,,,,,,,,,,,,Myopathy mitochondrial cataract,TRUE,FALSE,Retired +GARD:3889,Active,Orphanet,ORPHA:1358,Disorder,[Malformation syndrome],Carey-Fineman-Ziter syndrome,[Myopathy-Moebius-Robin syndrome],"Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.",[254940],,,,,Carey-Fineman-Ziter syndrome,TRUE,FALSE,Active +GARD:389,Legacy,GARD,,,,,,,,,,,,Wegmann Jones Smith syndrome,TRUE,FALSE,Retired +GARD:3892,Active,Orphanet,ORPHA:25980,Disorder,[Disease],X-linked myopathy with excessive autophagy,[XMEA],X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.,[310440],,,,,X-linked myopathy with excessive autophagy,TRUE,FALSE,Active +GARD:3896,Active,Orphanet,ORPHA:611,Disorder,[Disease],Inclusion body myositis,"[IBM, Sporadic inclusion body myositis, sIBM]","A rare degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness, starting in either the quadriceps or finger flexors and slowly progressing to include other groups of limb muscles. Distinctive histopathological features include inflammatory and degenerative features.",[147421],,,,,Inclusion body myositis,TRUE,FALSE,Active +GARD:3897,Legacy,GARD,,,,,,,,,,,,Myotonia mental retardation skeletal anomalies,TRUE,FALSE,Retired +GARD:39,Active,Orphanet,ORPHA:3466,Disorder,[Disease],WT limb-blood syndrome,,A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.,[194350],,,,,WT limb blood syndrome,TRUE,FALSE,Active +GARD:390,Active,Orphanet,ORPHA:2790,Disorder,[Malformation syndrome],"Endosteal hyperostosis, Worth type","[Autosomal dominant osteosclerosis, Worth type, Worth syndrome]","Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.",[144750],,,,,Worth type autosomal dominant osteosclerosis,TRUE,FALSE,Active +GARD:3900,Legacy,GARD,,,,,,,,,,,,Myxoma-spotty pigmentation-endocrine overactivity,TRUE,FALSE,Retired +GARD:3902,Active,Orphanet,ORPHA:2608,Disorder,[Malformation syndrome],N syndrome,,"A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (incl. dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalized skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974.",[310465],,,,,N syndrome,TRUE,FALSE,Active +GARD:3903,Active,Orphanet,ORPHA:79281,Subtype of disorder,[Clinical subtype],Alpha-N-acetylgalactosaminidase deficiency type 3,"[NAGA deficiency type 3, Schindler disease type 3]","A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.",[609241],,,,,N-acetyl-alpha-D-galactosaminidase deficiency type III,TRUE,FALSE,Active +GARD:3904,Active,Orphanet,ORPHA:647,Disorder,[Malformation syndrome],Nijmegen breakage syndrome,"[AT V1, Ataxia-telangiectasia, variant 1, Berlin breakage syndrome, Immunodeficiency-microcephaly-chromosomal instability syndrome, Microcephaly-immunodeficiency-lymphoid malignancy syndrome, NBS, Seemanova syndrome type 2]","A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies.",[251260],,,,,Nijmegen breakage syndrome,TRUE,FALSE,Active +GARD:3908,Active,Orphanet,ORPHA:2609,Disorder,[Disease],Isolated complex I deficiency,"[Isolated NADH-CoQ reductase deficiency, Isolated NADH-coenzyme Q reductase deficiency, Isolated NADH-ubiquinone reductase deficiency, Isolated mitochondrial respiratory chain complex I deficiency]","Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).","[301020, 301021, 618236, 618237, 618238, 618230, 252010, 618253, 618232, 618233, 618225, 619170, 618234, 619272, 618226, 618228, 618250, 618229, 618251, 618222, 618245, 618224, 618246, 618776, 618240, 619003, 618241, 618242]",,,,,Mitochondrial complex I deficiency,TRUE,FALSE,Active +GARD:3909,Active,Orphanet+OMIM,OMIM:250700,Subtype of disorder,[Disease subtype],Methemoglobin reductase deficiency,"[tpnh-methemoglobin reductase deficiency, Nadph-dependent methemoglobin reductase deficiency]",,[250700],[621],[Hereditary methemoglobinemia],[2659],,NADH cytochrome B5 reductase deficiency,TRUE,FALSE,Active +GARD:391,Active,Orphanet,ORPHA:2777,Disorder,[Malformation syndrome],Osteomesopyknosis,[Axial osteosclerosis],Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.,[166450],,,,,Osteomesopyknosis,TRUE,FALSE,Active +GARD:3912,Active,Orphanet,ORPHA:69087,Disorder,[Disease],Naegeli-Franceschetti-Jadassohn syndrome,"[NFJ syndrome, Naegeli syndrome]","Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.",[161000],,,,,Naegeli syndrome,TRUE,FALSE,Active +GARD:3916,Active,Orphanet+OMIM,OMIM:256040,Subtype of disorder,[Disease subtype],Proteasome-associated autoinflammatory syndrome 1,"[Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, autoinflammation, lipodystrophy, and dermatosis syndrome, jmp syndrome, nakajo-nishimura syndrome, joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy]","This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by {1:Agarwal et al., 2010}; {6:Kitamura et al., 2011}; {2:Arima et al., 2011}).\n\nThis disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both {9:Nakajo (1939)} and {10:Nishimura et al. (1950)} contributed to the original phenotypic descriptions.\n\n<Subhead> Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome\n\nSee also PRAAS2 ({618048}), caused by mutation in the POMP gene ({613386}) on chromosome 13q12; PRAAS3 ({617591}), caused by mutation in the PSMB4 gene ({602177}) on chromosome 1q21; PRAAS4 ({619183}), caused by mutation in the PSMG2 gene ({609702}) on chromosome 18p11; and PRAAS5 ({619175}), caused by mutation in the PSMB10 gene ({176847}) on chromosome 16q22.",[256040],[324977],[Proteasome-associated autoinflammatory syndrome],[13824],,Nakajo Nishimura syndrome,TRUE,FALSE,Active +GARD:3917,Legacy,GARD,,,,,,,,,,,,Nakajo syndrome,TRUE,FALSE,Active +GARD:3919,Active,Orphanet,ORPHA:231671,Subtype of disorder,[Clinical subtype],Isolated growth hormone deficiency type IB,"[Congenital IGHD type IB, Congenital isolated GH deficiency type IB, Congenital isolated growth hormone deficiency type IB]",,"[612781, 618157]",,,,,Isolated growth hormone deficiency type 1B,TRUE,FALSE,Active +GARD:392,Legacy,GARD,,,,,,,,,,,,Weinstein Kliman Scully syndrome,TRUE,FALSE,Retired +GARD:3921,Active,Orphanet,ORPHA:231692,Subtype of disorder,[Clinical subtype],Isolated growth hormone deficiency type III,"[Congenital IGHD type III, Congenital isolated GH deficiency type III, Congenital isolated growth hormone deficiency type III, X-linked IGHD, X-linked isolated growth hormone deficiency]",,"[300123, 307200]",,,,,Isolated growth hormone deficiency type 3,TRUE,FALSE,Active +GARD:3924,Active,Orphanet,ORPHA:181393,Group of disorders,[Category],Growth hormone insensitivity syndrome,"[GHIS, Short stature due to a defect in growth hormone receptor or post-receptor pathway]","Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms).",,,,,,Growth hormone insensitivity with immunodeficiency,TRUE,FALSE,Active +GARD:3927,Active,Orphanet,ORPHA:2399,Disorder,[Malformation syndrome],Nasopalpebral lipoma-coloboma syndrome,,"A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.",[167730],,,,,Nasopalpebral lipoma coloboma syndrome,TRUE,FALSE,Active +GARD:3928,Active,Orphanet,ORPHA:99811,Subtype of disorder,[Etiological subtype],Neuronal intestinal pseudoobstruction,,Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.,[243185],,,,,"Natal teeth, intestinal pseudoobstruction and patent ductus",TRUE,FALSE,Active +GARD:3929,Active,Orphanet,ORPHA:2663,Disorder,[Malformation syndrome],Nathalie syndrome,"[Deafness-cataract-skeletal anomalies syndrome, Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome]","A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.",[255990],,,,,Nathalie syndrome,TRUE,FALSE,Active +GARD:393,Active,Orphanet,ORPHA:879,Disorder,[Disease],Tungiasis,,"Tungiasis is a parasitic skin disease caused by the female sand flea Tunga penetrans. The disease is characterized by acute (multiple white, gray, or yellowish papular or nodular lesions with brown-black-colored opening at the center and peripheral erythema) and chronic inflammation in the feet with itchy/ painful lesions. Bacterial superinfection is common and result in debilitating clinical pathology (deep ulcers, gangrene, lymphangitis and septicemia), leading to impaired physical fitness and mobility. Tungiasis also involves hyperkeratosis, fissuration, nail hypertrophy, and loss of nails.",,,,,,Tungiasis,TRUE,FALSE,Active +GARD:3931,Active,Orphanet,ORPHA:85408,Disorder,[Disease],Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,"[Juvenile polyarthritis without rheumatoid factor, Juvenile rheumatoid factor-negative polyarthritis, Rheumatoid factor-negative polyarticular JIA]",A rare form of polyarticular juvenile idiopathic arthritis characterized by childhood-onset chronic arthritis of unknown cause involving five or more joints at disease onset and absence of rheumatoid factor IgM.,,,,,,Rheumatoid factor-negative juvenile idiopathic arthritis,TRUE,FALSE,Active +GARD:3934,Legacy,GARD,,,,,,,,,,,,Neonatal ovarian cyst,TRUE,FALSE,Active +GARD:3936,Active,Orphanet,ORPHA:2849,Disorder,[Malformation syndrome],Perlman syndrome,[Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome],"Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.",[267000],,,,,Perlman syndrome,TRUE,FALSE,Active +GARD:3939,Legacy,GARD,,,,,,,,,,,,Nephronophthisis familial adult spastic quadriparesis,TRUE,FALSE,Retired +GARD:394,Active,Orphanet,ORPHA:3268,Disorder,[Malformation syndrome],Radioulnar synostosis-microcephaly-scoliosis syndrome,"[Giuffré-Tsukahara syndrome, Tsukahara syndrome]","Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.",[603438],,,,,Radioulnar synostosis-microcephaly-scoliosis syndrome,TRUE,FALSE,Active +GARD:3940,Active,Orphanet,ORPHA:2668,Disorder,[Malformation syndrome],Nephropathy-deafness-hyperparathyroidism syndrome,"[Edwards-Patton-Dilly syndrome, Nephropathy-hearing loss-hyperparathyroidism syndrome]","A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.",[256120],,,,,"Nephropathy, deafness, and hyperparathyroidism",TRUE,FALSE,Active +GARD:3942,Legacy,GARD,,,,,,,,,,,,Nephropathy familial with hyperuricemia,TRUE,FALSE,Retired +GARD:3943,Active,Orphanet,ORPHA:2669,Disorder,[Malformation syndrome],Nephrosis-deafness-urinary tract-digital malformations syndrome,"[Braun-Bayer syndrome, Nephrosis-hearing loss-urinary tract-digital malformations syndrome]","A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.",[256200],,,,,Nephrosis deafness urinary tract digital malformation,TRUE,FALSE,Active +GARD:3945,Legacy,GARD,,,,,,,,,,,,Nephrotic syndrome ocular anomalies,TRUE,FALSE,Active +GARD:3946,Active,Orphanet,ORPHA:656,Disorder,[Disease],Genetic steroid-resistant nephrotic syndrome,"[Familial idiopathic steroid-resistant nephrotic syndrome, Genetic SRNS, Hereditary steroid-resistant nephrotic syndrome]","A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course.","[618177, 615244, 616892, 619201, 618178, 616893, 301028, 600995, 603965, 256370, 615573, 618179, 616220, 616002, 616032, 610725, 613237, 603278, 614196, 619155, 614131, 616730, 615861, 618176, 612551, 607832]",,,,,Genetic steroid-resistant nephrotic syndrome,TRUE,FALSE,Active +GARD:3947,Active,Orphanet,ORPHA:657,Group of disorders,[Clinical group],Congenital isolated hyperinsulinism,"[PHHI, Persistent hyperinsulinemic hypoglycemia of infancy]","A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. Focal forms are only observed in early-onset cases of diazoxide unresponsive patients.",,,,,,Congenital hyperinsulinism,TRUE,FALSE,Active +GARD:3948,Active,Orphanet,ORPHA:3350,Disorder,[Disease],Tremor-nystagmus-duodenal ulcer syndrome,[Neuhauser-Daly-Magnelli syndrome],"Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976.",[190310],,,,,Neuhauser Daly Magnelli syndrome,TRUE,FALSE,Retired +GARD:3949,Active,Orphanet,ORPHA:2672,Disorder,[Malformation syndrome],Neuhauser-Eichner-Opitz syndrome,[Recurrent encephalophathy of childhood],"A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983.",[130950],,,,,Neuhauser Eichner Opitz syndrome,TRUE,FALSE,Retired +GARD:395,Active,Orphanet,ORPHA:1574,Disorder,[Malformation syndrome],Retinal degeneration-nanophthalmos-glaucoma syndrome,[Mackay-Shek-Carr syndrome],"Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.",[267760],,,,,"Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma",TRUE,FALSE,Active +GARD:3950,Legacy,GARD,,,,,,,,,,,,Neural crest tumor,TRUE,FALSE,Active +GARD:3953,Active,Orphanet,ORPHA:351,Disorder,[Disease],Galactosialidosis,"[Goldberg syndrome, Neuraminidase deficiency with beta-galactosidase deficiency]","Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.",[256540],,,,,Galactosialidosis,TRUE,FALSE,Active +GARD:3955,Active,Orphanet+OMIM,OMIM:162100,Subtype of disorder,[Disease subtype],"Amyotrophy, hereditary neuralgic","[brachial plexus neuropathy, hereditary, Neuritis with brachial predilection, amyotrophy, hereditary neuralgic, with predilection for brachial plexus]","Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.",[162100],[2901],[Neuralgic amyotrophy],[4228],,Hereditary neuralgic amyotrophy,TRUE,FALSE,Active +GARD:3956,Active,Orphanet,ORPHA:2388,Disorder,[Disease],Choreoacanthocytosis,"[ChAc, Chorea-acanthocytosis, Levine-Critchley syndrome]","Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.",[200150],,,,,Chorea-acanthocytosis,TRUE,FALSE,Active +GARD:3957,Active,Orphanet,ORPHA:35069,Disorder,[Disease],Infantile neuroaxonal dystrophy,"[INAD, INAD1, PLAN, Phospholipase A2-associated neurodegeneration, Seitelberger disease]","Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.","[610217, 256600]",,,,,Infantile neuroaxonal dystrophy,TRUE,FALSE,Active +GARD:3959,Legacy,GARD,,,,,,,,,,,,Neuroectodermal endocrine syndrome,TRUE,FALSE,Active +GARD:396,Active,Orphanet,ORPHA:3392,Disorder,[Disease],Tularemia,,"A rare bacterial infectious disease caused by Francisella tularensis and characterized by six major clinical presentations: ulceroglandular, glandular, oropharyngeal, oculoglandular, pneumonic, or typhoidal, depending on the route of infection. Early flu-like symptoms are common to all forms and are accompanied/followed by either a skin inoculation ulcer with localized lymphadenopathy; isolated lymphadenopathy; chronic pharyngitis with cervical lymphadenopathy; conjunctivitis with localized lymphadenopathy; lung involvement; severe systemic disease with neurological symptoms.",,,,,,Tularemia,TRUE,FALSE,Active +GARD:3963,Legacy,GARD,,,,,,,,,,,,Neuroepithelioma,TRUE,FALSE,Active +GARD:3964,Active,Orphanet,ORPHA:2673,Disorder,[Malformation syndrome],Neurofaciodigitorenal syndrome,[Freire Maia-Pinheiro-Opitz syndrome],"Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.",[256690],,,,,Neurofaciodigitorenal syndrome,TRUE,FALSE,Active +GARD:3966,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis type 3A,TRUE,FALSE,Retired +GARD:3967,Active,Orphanet,ORPHA:2678,Disorder,[Malformation syndrome],Neurofibromatosis type 6,"[Familial café-au-lait spots, Multiple café-au-lait spots, Multiple café-au-lait syndrome, NF6]","Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.",[114030],,,,,Multiple café-au-lait spots,TRUE,FALSE,Active +GARD:3969,Legacy,GARD,,,,,,,,,,,,Visceral neuropathy familial,TRUE,FALSE,Active +GARD:397,Legacy,GARD,,,,,,,,,,,,Herrmann Opitz arthrogryposis syndrome,TRUE,FALSE,Retired +GARD:3971,Active,Orphanet,ORPHA:2289,Disorder,[Disease],Neuronal intranuclear inclusion disease,,"Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.",[603472],,,,,Neuronal intranuclear inclusion disease,TRUE,FALSE,Active +GARD:3972,Active,Orphanet,ORPHA:255229,Disorder,[Disease],Navajo neurohepatopathy,[Navajo neuropathy],"A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism.",[256810],,,,,MPV17-related hepatocerebral mitochondrial DNA depletion syndrome,TRUE,FALSE,Active +GARD:3973,Active,Orphanet,ORPHA:99950,Disorder,[Disease],Charcot-Marie-Tooth disease type 4D,"[CMT4D, HMSN, Lom type, HMSN-Lom, Hereditary motor and sensory neuropathy, Lom type]","Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.",[601455],,,,,Charcot-Marie-Tooth disease type 4D,TRUE,FALSE,Active +GARD:3976,Active,Orphanet,ORPHA:970,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 2,"[Autosomal recessive sensory radicular neuropathy, HSAN2, Hereditary sensory and autonomic neuropathy type II, Neurogenic acroosteolysis]",A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves.,"[613115, 243000, 614213, 201300]",,,,,Hereditary sensory and autonomic neuropathy type 2,TRUE,FALSE,Active +GARD:3978,Legacy,GARD,,,,,,,,,,,,Neuropathy sensory spastic paraplegia,TRUE,FALSE,Retired +GARD:3979,Active,Orphanet,ORPHA:98907,Disorder,[Disease],Neutral lipid storage disease with ichthyosis,"[Dorfman-Chanarin disease, NLSDI]","A form of neutral lipid storage disease characterized by the accumulation of lipid vacuoles in leukocytes (so-called Jordan's anomaly seen in peripheral blood smears) and a variety of other cell types. The clinical picture consists of congenital ichthyosis of the congenital ichthyosiform erythroderma type together with variable multisystem involvement. Manifestations include hepatosplenomegaly, myopathy, intestinal disease, growth retardation, cataracts, sensorineural hearing loss, and intellectual disability, among others.",[275630],,,,,Chanarin-Dorfman syndrome,TRUE,FALSE,Active +GARD:398,Legacy,GARD,,,,,,,,,,,,Bagatelle Cassidy syndrome,TRUE,FALSE,Active +GARD:3981,Active,Orphanet,ORPHA:86788,Disorder,[Disease],X-linked severe congenital neutropenia,,"X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.",[300299],,,,,Severe congenital neutropenia X-linked,TRUE,FALSE,Active +GARD:3982,Active,Orphanet,ORPHA:2690,Disorder,[Disease],Neutropenia-monocytopenia-deafness syndrome,[Neutropenia-monocytopenia-hearing loss syndrome],"Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.",,,,,,Neutropenia monocytopenia deafness,TRUE,FALSE,Retired +GARD:3983,Legacy,GARD,,,,,,,,,,,,Neutropenia chronic familial,TRUE,FALSE,Active +GARD:3986,Active,Orphanet,ORPHA:624,Disorder,[Morphological anomaly],Familial multiple nevi flammei,[Familial multiple port-wine stains],"Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.",[163000],,,,,"Nevi flammei, familial multiple",TRUE,FALSE,Active +GARD:3989,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis type 3B,TRUE,FALSE,Retired +GARD:399,Active,Orphanet,ORPHA:393,Disorder,[Malformation syndrome],"46,XX testicular disorder of sex development","[46,XX testicular DSD, De la Chapelle syndrome, XX, male syndrome]","A rare disorder of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency.","[300833, 400045, 278850]",,,,,"46,XX testicular disorder of sex development",TRUE,FALSE,Active +GARD:3992,Legacy,GARD,,,,,,,,,,,,Niemann-Pick disease type C2,TRUE,FALSE,Active +GARD:3994,Active,Orphanet,ORPHA:1390,Disorder,[Malformation syndrome],Night blindness-skeletal anomalies-dysmorphism syndrome,[Hunter-Thompson-Reed syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphyc syndrome characterized by slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. There have been no further descriptions in the literature since 1979.",,,,,,Night blindness-skeletal anomalies-dysmorphism syndrome,TRUE,FALSE,Active +GARD:3995,Active,Orphanet,ORPHA:215,Disorder,[Disease],Congenital stationary night blindness,[Congenital essential nyctalopia],"Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.","[614565, 613216, 617024, 613830, 300071, 257270, 616389, 615058, 610444, 163500, 610427, 610445, 310500]",,,,,X-linked congenital stationary night blindness,TRUE,FALSE,Active +GARD:3999,Active,Orphanet,ORPHA:1884,Disorder,[Disease],Ectopia lentis-chorioretinal dystrophy-myopia syndrome,[Noble-Bass-Sherman syndrome],"A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients.",,,,,,Noble Bass Sherman syndrome,TRUE,FALSE,Active +GARD:4,Legacy,GARD,,,,,,,,,,,,Acanthocheilonemiasis,TRUE,FALSE,Active +GARD:400,Active,Orphanet,ORPHA:2067,Disorder,[Malformation syndrome],GAPO syndrome,[Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome],"A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations.",[230740],,,,,GAPO syndrome,TRUE,FALSE,Active +GARD:4001,Active,Orphanet,ORPHA:2700,Disorder,[Disease],Noma,[Cancrum oris],Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.,,,,,,Noma,TRUE,FALSE,Active +GARD:4002,Legacy,GARD,,,,,,,,,,,,Non functioning pancreatic endocrine tumor,TRUE,FALSE,Active +GARD:4003,Active,Orphanet,ORPHA:225,Disorder,[Disease],Maternally-inherited diabetes and deafness,"[MIDD, Maternally-inherited diabetes and hearing loss, Mitochondrial diabetes]",Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.,[520000],,,,,Maternally inherited diabetes and deafness,TRUE,FALSE,Active +GARD:4006,Legacy,GARD,,,,,,,,,,,,Noonan-like/multiple giant cell lesion syndrome,TRUE,FALSE,Retired +GARD:4009,Legacy,GARD,,,,,,,,,,,,Normokalemic periodic paralysis,TRUE,FALSE,Retired +GARD:4010,Active,Orphanet,ORPHA:1947,Disorder,[Disease],"Progressive epilepsy-intellectual disability syndrome, Finnish type","[CLN8 disease, Northern epilepsy variant, NCL, Northern epilepsy variant, Neuronal ceroid lipofuscinosis, Northern epilepsy variant, Northern epilepsy]","Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.",[610003],,,,,Northern epilepsy,TRUE,FALSE,Active +GARD:4011,Active,Orphanet,ORPHA:79293,Subtype of disorder,[Clinical subtype],Familial LCAT deficiency,"[Complete LCAT deficiency, FLD, Norum disease]","Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.",[245900],,,,,Familial LCAT deficiency,TRUE,FALSE,Active +GARD:4014,Active,Orphanet,ORPHA:2703,Disorder,[Malformation syndrome],Port-wine nevi-mega cisterna magna-hydrocephalus syndrome,[Nova syndrome],"A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.",,,,,,Nova syndrome,TRUE,FALSE,Retired +GARD:4015,Legacy,GARD,,,,,,,,,,,,Novak syndrome,TRUE,FALSE,Retired +GARD:4016,Legacy,GARD,,,,,,,,,,,,Neural tube defects,FALSE,FALSE,Active +GARD:4017,Active,Orphanet,ORPHA:198,Disorder,[Disease],Occipital horn syndrome,,"A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable.",[304150],,,,,Occipital horn syndrome,TRUE,FALSE,Active +GARD:4018,Active,Orphanet,ORPHA:268861,Disorder,[Morphological anomaly],Primary tethered cord syndrome,[Primary tethered spinal cord syndrome],"Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.",,,,,,Tethered cord syndrome,TRUE,FALSE,Active +GARD:402,Active,Orphanet+OMIM,OMIM:165199,Subtype of disorder,[Disease subtype],"Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant",,"{1:Hagemoser et al. (1989)} reported 2 unrelated families with a disorder characterized by optic atrophy, hearing loss, and peripheral neuropathy. In the first family, there were 13 affected members spanning 4 generations with an instance of male-to-male transmission. Most patients had onset of bilateral hearing loss and visual loss with optic atrophy by school-age. Onset of neurologic features occurred only in a subset of patients as adults, and consisted primarily of decreased vibratory sensation and hyporeflexia in the lower limbs. Nerve conduction velocities suggested an axonal sensory and motor neuropathy. The second family had 3 affected members in 3 generations. Optic atrophy was recognized in the first decade of life. The proband had visual loss at school age and hearing loss by age 13 years. Decreased distal sensation developed as an adult. {1:Hagemoser et al. (1989)} concluded that this disorder showed autosomal dominant inheritance with initial presentation of optic atrophy.\n\nSee {311070} and {258650} for an X-linked and a possible autosomal recessive form of the disorder, respectively.",[165199],[1215],[Autosomal dominant optic atrophy plus syndrome],[5243],,"Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy",TRUE,FALSE,Retired +GARD:4021,Legacy,GARD,,,,,,,,,,,,Oculo-cerebral dysplasia,TRUE,FALSE,Active +GARD:4022,Legacy,GARD,,,,,,,,,,,,Oculo cerebro acral syndrome,TRUE,FALSE,Retired +GARD:4023,Legacy,GARD,,,,,,,,,,,,Oculo cerebro osseous syndrome,TRUE,FALSE,Retired +GARD:4025,Legacy,GARD,,,,,,,,,,,,Oculo digital syndrome,TRUE,FALSE,Active +GARD:4028,Legacy,GARD,,,,,,,,,,,,Oculo skeletal renal syndrome,TRUE,FALSE,Active +GARD:4031,Active,Orphanet,ORPHA:398156,Disorder,[Malformation syndrome],Oculoauriculofrontonasal syndrome,[OAFNS],"Oculoauriculofrontonasal syndrome is a rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.",[601452],,,,,Oculoauriculofrontonasal syndrome,TRUE,FALSE,Active +GARD:4034,Active,Orphanet,ORPHA:2720,Disorder,[Malformation syndrome],"Oculocerebral hypopigmentation syndrome, Preus type",,"Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.",[257790],,,,,Oculocerebral hypopigmentation syndrome type Preus,TRUE,FALSE,Active +GARD:4037,Active,Orphanet,ORPHA:352731,Disorder,[Disease],Oculocutaneous albinism type 1,[OCA1],"A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).","[606952, 203100]",,,,,Oculocutaneous albinism type 1,TRUE,FALSE,Active +GARD:4038,Active,Orphanet,ORPHA:79432,Disorder,[Disease],Oculocutaneous albinism type 2,[OCA2],"A form of oculocutaneous albinism characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.",[203200],,,,,Oculocutaneous albinism type 2,TRUE,FALSE,Active +GARD:4039,Active,Orphanet,ORPHA:79433,Disorder,[Disease],Oculocutaneous albinism type 3,"[OCA3, Red oculocutaneous albinism, Rufous oculocutaneous albinism, Xanthous oculocutaneous albinism]",A form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.,[203290],,,,,Oculocutaneous albinism type 3,TRUE,FALSE,Active +GARD:404,Active,Orphanet,ORPHA:2786,Disorder,[Malformation syndrome],Osteoporosis-oculocutaneous hypopigmentation syndrome,"[Hernández-Fragoso syndrome, OOCHS]","A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported.",[601220],,,,,Osteoporosis oculocutaneous hypopigmentation syndrome,TRUE,FALSE,Active +GARD:4043,Legacy,GARD,,,,,,,,,,,,Oculodentodigital dysplasia dominant,TRUE,FALSE,Active +GARD:4045,Legacy,GARD,,,,,,,,,,,,Oculodentoosseous dysplasia recessive,TRUE,FALSE,Active +GARD:4046,Active,Orphanet,ORPHA:1794,Disorder,[Malformation syndrome],Oculomaxillofacial dysostosis,[Richieri-Costa-Gorlin syndrome],"Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.",,,,,,Oculomaxillofacial dysostosis,TRUE,FALSE,Active +GARD:4047,Active,Orphanet,ORPHA:1154,Disorder,[Malformation syndrome],Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,"[Distal arthrogryposis type 5, Distal arthrogryposis type IIB, Distal arthrogryposis with ophthalmoplegia, Oculomelic amyoplasia]","An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.",[108145],,,,,Distal arthrogryposis type 5,TRUE,FALSE,Active +GARD:4049,Active,Orphanet+OMIM,OMIM:257920,Subtype of disorder,[Malformation syndrome subtype],3mc syndrome 1,"[michels syndrome, formerly, Oculopalatoskeletal syndrome, craniosynostosis with lid anomalies]","The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by {10:Rooryck et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of 3MC Syndrome\n\nAlso see 3MC syndrome-2 (3MC2; {265050}), caused by mutation in the COLEC11 gene ({612502}), and 3MC syndrome-3 (3MC3; {248340}), caused by mutation in the COLEC1 gene ({607620}).",[257920],[293843],[3MC syndrome],[1118],,Michels syndrome,TRUE,FALSE,Retired +GARD:405,Active,Orphanet,ORPHA:3191,Disorder,[Malformation syndrome],Subaortic stenosis-short stature syndrome,[Onat syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.",[271960],,,,,Subaortic stenosis short stature syndrome,TRUE,FALSE,Active +GARD:4050,Active,Orphanet,ORPHA:2715,Disorder,[Malformation syndrome],Severe oculo-renal-cerebellar syndrome,"[Hunter-Jurenka-Thompson syndrome, ORC syndrome, Oculorenocerebellar syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982.",[257970],,,,,Oculorenocerebellar syndrome,TRUE,FALSE,Active +GARD:4051,Active,Orphanet,ORPHA:2722,Disorder,[Malformation syndrome],Odonto-onycho dysplasia-alopecia syndrome,,"Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.",,,,,,Odonto onycho dysplasia with alopecia,TRUE,FALSE,Active +GARD:4053,Active,Orphanet,ORPHA:1811,Disorder,[Malformation syndrome],Odontomicronychial dysplasia,,"Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.",[601319],,,,,Odontomicronychial dysplasia,TRUE,FALSE,Active +GARD:4054,Active,Orphanet,ORPHA:2721,Disorder,[Disease],Odonto-onycho-dermal dysplasia,[OODD],"A rare, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis).",[257980],,,,,Odontoonychodermal dysplasia,TRUE,FALSE,Active +GARD:406,Active,Orphanet,ORPHA:2253,Disorder,[Disease],Foveal hypoplasia-presenile cataract syndrome,[O'Donnell-Pappas syndrome],"Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.",[136520],,,,,O Donnell Pappas syndrome,TRUE,FALSE,Active +GARD:4060,Active,Orphanet,ORPHA:2755,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 8,"[OFD8, Oral-facial-digital syndrome type 8, Oral-facial-digital syndrome, Edwards type, Orofaciodigital syndrome, Edwards type]","Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.",[300484],,,,,Orofaciodigital syndrome 8,TRUE,FALSE,Active +GARD:4061,Active,Orphanet,ORPHA:2756,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 10,"[Figuera syndrome, OFD10, Oral-facial-digital syndrome type 10, Orofaciodigital syndrome with fibular aplasia]","Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.",[165590],,,,,Orofaciodigital syndrome 10,TRUE,FALSE,Active +GARD:4062,Active,Orphanet,ORPHA:1186,Disorder,[Disease],Infantile-onset spinocerebellar ataxia,"[IOSCA, Ohaha syndrome, Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome]",Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.,[271245],,,,,Infantile onset spinocerebellar ataxia,TRUE,FALSE,Active +GARD:4064,Active,Orphanet,ORPHA:2729,Disorder,[Malformation syndrome],Okamoto syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe developmental delay and intellectual disability, generalized hypotonia, growth failure, hydronephrosis, cardiac anomalies, and dysmorphic craniofacial features (such as microcephaly, hypertrichosis, synophrys, long eyelashes, epicanthus, flat nasal bridge, short, upturned nose, long philtrum, low-set ears, open-mouth appearance, full lower lip, cleft palate, and webbed neck). Thin corpus callosum, tethered spinal cord, intestinal malrotation, anal stenosis, and uterus didelphys have also been reported.",[604916],,,,,Okamoto syndrome,TRUE,FALSE,Active +GARD:4065,Active,Orphanet,ORPHA:2730,Disorder,[Malformation syndrome],Postaxial tetramelic oligodactyly,,"Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.",[176240],,,,,Oligodactyly tetramelic postaxial,TRUE,FALSE,Active +GARD:4066,Active,Orphanet,ORPHA:2260,Disorder,[Morphological anomaly],Oligomeganephronia,[Oligomeganephronic renal hypoplasia],A rare kidney malformation characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.,,,,,,Oligomeganephronic renal hypoplasia,TRUE,FALSE,Active +GARD:4069,Active,Orphanet,ORPHA:2920,Disorder,[Malformation syndrome],Oliver syndrome,[Postaxial polydactyly-intellectual disability syndrome],"Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.",[258200],,,,,Oliver syndrome,TRUE,FALSE,Active +GARD:407,Active,Orphanet,ORPHA:999,Disorder,[Malformation syndrome],Ermine phenotype,"[O'Doherty syndrome, Pigmentary disorder with deafness, Pigmentary disorder with hearing loss]","A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.",[227010],,,,,Ermine phenotype,TRUE,FALSE,Active +GARD:4070,Active,Orphanet,ORPHA:2732,Disorder,[Malformation syndrome],Olivopontocerebellar atrophy-deafness syndrome,[Olivopontocerebellar atrophy-hearing loss syndrome],"Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.",,,,,,Olivopontocerebellar atrophy deafness,TRUE,FALSE,Active +GARD:4071,Active,Orphanet,ORPHA:98755,Disorder,[Disease],Spinocerebellar ataxia type 1,[SCA1],"Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.",[164400],,,,,Spinocerebellar ataxia 1,TRUE,FALSE,Active +GARD:4072,Active,Orphanet,ORPHA:98756,Disorder,[Disease],Spinocerebellar ataxia type 2,[SCA2],"Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.",[183090],,,,,Spinocerebellar ataxia 2,TRUE,FALSE,Active +GARD:4075,Active,Orphanet,ORPHA:659,Disorder,[Disease],Mutilating palmoplantar keratoderma with periorificial keratotic plaques,"[Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques, Olmsted syndrome, Palmoplantar and periorificial keratoderma]",A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.,"[619208, 614594, 300918]",,,,,Olmsted syndrome,TRUE,FALSE,Active +GARD:4076,Active,Orphanet,ORPHA:93329,Subtype of disorder,[Clinical subtype],Autosomal recessive omodysplasia,[Micromelic dysplasia-dislocation of radius syndrome],,[258315],,,,,Omodysplasia 1,TRUE,FALSE,Active +GARD:4079,Active,Orphanet,ORPHA:2736,Disorder,[Malformation syndrome],Lethal omphalocele-cleft palate syndrome,[Czeizel syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy.",[258320],,,,,Omphalocele cleft palate syndrome lethal,TRUE,FALSE,Active +GARD:408,Active,Orphanet,ORPHA:629,Subtype of disorder,[Clinical subtype],Short stature due to growth hormone qualitative anomaly,[Kowarski syndrome],"Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.",[262650],,,,,Kowarski syndrome,TRUE,FALSE,Active +GARD:4080,Active,Orphanet,ORPHA:93929,Subtype of disorder,[Clinical subtype],Cloacal exstrophy,"[OEIS complex, Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome]","A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.",[258040],,,,,"Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex",TRUE,FALSE,Active +GARD:4081,Active,Orphanet,ORPHA:490,Disorder,[Morphological anomaly],Omphalomesenteric cyst,,"A rare non-syndromic diaphragmatic or abdominal wall malformation, a remnant of omphalomesenteric duct, characterized by cuboidal or columnar epithelium with gastrointestinal differentiation. Patients may be asymptomatic or present with infraumbilical mass, umbilical lesion with secretions, abdominal pain, hernia, abscess, gastrointestinal tract bleeding, intestinal obstruction, and acute abdomen.",,,,,,Omphalomesenteric cyst,TRUE,FALSE,Active +GARD:4083,Active,Orphanet,ORPHA:1487,Disorder,[Malformation syndrome],Cooks syndrome,"[Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome, ODP]",Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.,[106995],,,,,Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges,TRUE,FALSE,Active +GARD:4085,Active,Orphanet,ORPHA:221046,Disorder,[Disease],Poikiloderma with neutropenia,"[Poikiloderma with neutropenia, Clericuzio type]","Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.",[604173],,,,,Poikiloderma with neutropenia,TRUE,FALSE,Active +GARD:4087,Legacy,GARD,,,,,,,,,,,,Opthalmic icthyosis,TRUE,FALSE,Retired +GARD:4089,Legacy,GARD,,,,,,,,,,,,Opthalmomandibulomelic dysplasia,TRUE,FALSE,Active +GARD:409,Active,Orphanet,ORPHA:2798,Disorder,[Malformation syndrome],Pachygyria-intellectual disability-epilepsy syndrome,[Kuzniecky syndrome],"A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.",[600176],,,,,Pachygyria-intellectual disability-epilepsy syndrome,TRUE,FALSE,Active +GARD:4090,Legacy,GARD,,,,,,,,,,,,Ophthalmoplegia myalgia tubular aggregates,TRUE,FALSE,Retired +GARD:4092,Legacy,GARD,,,,,,,,,,,,Opthalmoplegia mental retardation lingua scrotalis,TRUE,FALSE,Retired +GARD:4093,Legacy,GARD,,,,,,,,,,,,Opthalmoplegia progressive external scoliosis,TRUE,FALSE,Retired +GARD:4098,Active,Orphanet,ORPHA:2746,Disorder,[Disease],Opsismodysplasia,,Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.,[258480],,,,,Opsismodysplasia,TRUE,FALSE,Active +GARD:4101,Legacy,GARD,,,,,,,,,,,,Optic atrophy opthalmoplegia ptosis deafness myopia,TRUE,FALSE,Retired +GARD:4102,Legacy,GARD,,,,,,,,,,,,Optic atrophy polyneuropathy deafness,TRUE,FALSE,Active +GARD:4106,Active,Orphanet,ORPHA:1475,Disorder,[Malformation syndrome],Renal coloboma syndrome,"[Coloboma of optic nerve with renal disease, Papillo-renal syndrome]",A genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.,[120330],,,,,Renal coloboma syndrome,TRUE,FALSE,Active +GARD:4107,Active,Orphanet,ORPHA:2086,Disorder,[Disease],Optic pathway glioma,,"Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1, see this term).",,,,,,Optic pathway glioma,TRUE,FALSE,Active +GARD:4108,Legacy,GARD,,,,,,,,,,,,Opticoacoustic nerve atrophy dementia,TRUE,FALSE,Retired +GARD:411,Active,Orphanet,ORPHA:2323,Disorder,[Malformation syndrome],Sanjad-Sakati syndrome,"[HRD syndrome, Hypoparathyroidism-intellectual disability-dysmorphism syndrome, Hypoparathyroidism-short stature-intellectual disability-seizures syndrome, Richardson-Kirk syndrome, SSS]","Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.",[241410],,,,,Hypoparathyroidism-intellectual disability-dysmorphism syndrome,TRUE,FALSE,Active +GARD:4114,Legacy,GARD,,,,,,,,,,,,Organic mood syndrome,TRUE,FALSE,Active +GARD:4116,Active,Orphanet,ORPHA:2749,Group of disorders,[Clinical group],Oromandibular-limb hypogenesis syndrome,[Oroacral syndrome],"Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).",,,,,,Oro-mandibular-limb hypogenesis syndrome,TRUE,FALSE,Active +GARD:4118,Active,Orphanet,ORPHA:141000,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 11,"[OFD11, Oral-facial-digital syndrome type 11, Oral-facial-digital syndrome, Gabrielli type, Orofaciodigital syndrome, Gabrielli type]","Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.",[612913],,,,,Orofaciodigital syndrome 11,TRUE,FALSE,Active +GARD:4119,Active,Orphanet,ORPHA:85286,Disorder,[Malformation syndrome],"X-linked intellectual disability, Shashi type",[Syndromic X-linked intellectual disability type 11],"X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.",[300238],,,,,"X-linked intellectual disability, Shashi type",TRUE,FALSE,Active +GARD:412,Active,Orphanet,ORPHA:1221,Disorder,[Disease],Cheilitis glandularis,,A rare skin disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.,[118330],,,,,Cheilitis glandularis,TRUE,FALSE,Active +GARD:4120,Active,Orphanet,ORPHA:2919,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 5,"[OFD5, Oral-facial-digital syndrome type 5, Orofaciodigital syndrome, Thurston type, Polydactyly postaxial with median cleft of upper lip, Thurston syndrome]","A rare orofaciodigital syndrome characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).",[174300],,,,,Orofaciodigital syndrome 5,TRUE,FALSE,Active +GARD:4121,Active,Orphanet,ORPHA:2750,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 1,"[OFD1, OFDI, OFDSI, Oral-facial-digital syndrome type 1, Papillon-Léage-Psaume syndrome]","Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.",[311200],,,,,Orofaciodigital syndrome 1,TRUE,FALSE,Active +GARD:4129,Active,Orphanet,ORPHA:2760,Disorder,[Malformation syndrome],OSLAM syndrome,[Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome],"A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.",[165660],,,,,Oslam syndrome,TRUE,FALSE,Active +GARD:413,Active,Orphanet,ORPHA:2078,Disorder,[Malformation syndrome],Geroderma osteodysplastica,,"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.",[231070],,,,,Geroderma osteodysplastica,TRUE,FALSE,Active +GARD:4130,Active,Orphanet,ORPHA:1427,Disorder,[Disease],Otospondylomegaepiphyseal dysplasia,[OSMED],"Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.",[215150],,,,,OSMED Syndrome,TRUE,FALSE,Active +GARD:4131,Active,Orphanet,ORPHA:3314,Disorder,[Disease],"Thiemann disease, familial form","[Aseptic necrosis of phalangeal epiphyses, Osteochondrosis of phalangeal epiphyses]","A very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.",[165700],,,,,Osteoarthropathy of fingers familial,TRUE,FALSE,Active +GARD:4133,Active,Orphanet,ORPHA:251262,Disorder,[Disease],Familial osteochondritis dissecans,[Osteochondritis dissecans and short stature],"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.",[165800],,,,,Familial osteochondritis dissecans,TRUE,FALSE,Active +GARD:4136,Active,Orphanet,ORPHA:2769,Disorder,[Malformation syndrome],"Familial osteodysplasia, Anderson type",,"Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.",[259250],,,,,Osteodysplasia familial Anderson type,TRUE,FALSE,Active +GARD:4138,Legacy,GARD,,,,,,,,,,,,Osteoectasia familial,TRUE,FALSE,Retired +GARD:4139,Active,Orphanet,ORPHA:2772,Disorder,[Malformation syndrome],Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,,"A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal in utero or shortly after birth. There have been no further descriptions in the literature since 1978.",[259410],,,,,Osteogenesis imperfecta congenita microcephaly and cataracts,TRUE,FALSE,Retired +GARD:414,Active,Orphanet,ORPHA:1226,Disorder,[Malformation syndrome],Bamforth-Lazarus syndrome,"[Athyroidal hypothyroidism-spiky hair-cleft palate syndrome, Bamforth syndrome, Hypothyroidism-cleft palate syndrome]","A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.",[241850],,,,,Bamforth syndrome,TRUE,FALSE,Active +GARD:4142,Active,Orphanet,ORPHA:2645,Disorder,[Malformation syndrome],Osteoglosphonic dysplasia,[Osteoglophonic dwarfism],"A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.",[166250],,,,,Osteoglophonic dysplasia,TRUE,FALSE,Active +GARD:4144,Legacy,GARD,,,,,,,,,,,,Autosomal recessive distal osteolysis syndrome,TRUE,FALSE,Active +GARD:4148,Active,Orphanet,ORPHA:2780,Disorder,[Malformation syndrome],Osteopathia striata-cranial sclerosis syndrome,"[Hyperostosis generalisata with striations, Robinow-Unger syndrome]","Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.",[300373],,,,,Osteopathia striata with cranial sclerosis,TRUE,FALSE,Active +GARD:415,Active,Orphanet,ORPHA:2985,Disorder,[Malformation syndrome],Pseudoprogeria syndrome,"[Absent eyebrows and eyelashes-intellectual disability syndrome, Hal-Berg-Rudolph syndrome]","A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.",[200130],,,,,Pseudoprogeria syndrome,TRUE,FALSE,Active +GARD:4151,Active,Orphanet,ORPHA:2783,Disorder,[Malformation syndrome],Autosomal dominant osteopetrosis type 1,,A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.,[607634],,,,,Osteopetrosis autosomal dominant type 1,TRUE,FALSE,Active +GARD:4153,Active,Orphanet+OMIM,OMIM:259720,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 5","[Osteopetrosis, infantile malignant 3]","Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life ({7:Quarello et al., 2004}).",[259720],[85179],[Infantile osteopetrosis with neuroaxonal dysplasia],[10082],,Osteopetrosis autosomal recessive 5,TRUE,FALSE,Active +GARD:4154,Active,Orphanet,ORPHA:2785,Disorder,[Disease],Osteopetrosis with renal tubular acidosis,"[Carbonic anhydrase 2 deficiency, Guibaud-Vainsel syndrome, Marble brain disease, Mixed RTA, Mixed renal tubular acidosis, Renal tubular acidosis type 3]","Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.","[267200, 259730]",,,,,Osteopetrosis autosomal recessive 3,TRUE,FALSE,Active +GARD:4155,Active,Orphanet,ORPHA:2781,Group of disorders,[Clinical group],Osteopetrosis and related disorders,,"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.",,,,,,Osteopetrosis,TRUE,FALSE,Active +GARD:4156,Active,Orphanet,ORPHA:210110,Disorder,[Malformation syndrome],Intermediate osteopetrosis,[Autosomal recessive intermediate osteopetrosis],"Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.",[611497],,,,,Osteopetrosis autosomal recessive 6,TRUE,FALSE,Active +GARD:4157,Active,Orphanet+OMIM,OMIM:259710,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 2","[Osteopetrosis, osteoclast-poor, osteopetrosis, mild autosomal recessive form]",,[259710],[667],[Autosomal recessive malignant osteopetrosis],[15012],,Osteopetrosis autosomal recessive 2,TRUE,FALSE,Active +GARD:4158,Legacy,GARD,,,,,,,,,,,,Osteopoikilosis,TRUE,FALSE,Active +GARD:4160,Active,Orphanet,ORPHA:2788,Disorder,[Disease],Osteoporosis-pseudoglioma syndrome,"[OPPG, Ocular form of osteogenesis imperfecta]",Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.,[259770],,,,,Osteoporosis-pseudoglioma syndrome,TRUE,FALSE,Active +GARD:4163,Active,Orphanet,ORPHA:79093,Disorder,[Malformation syndrome],Foix-Alajouanine syndrome,"[Angiodysgenetic necrotizing myelopathy, Familial osteosclerosis with abnormalities of the nervous system and meninges, Subacute angiohypertrophic myelomalacia, Subacute ascending necrotizing myelitis, Subacute necrotizing myelitis]","Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years.",,,,,,Osteosclerosis abnormalities of nervous system and meninges,TRUE,FALSE,Retired +GARD:4166,Active,Orphanet,ORPHA:1338,Disorder,[Malformation syndrome],Heart defect-tongue hamartoma-polysyndactyly syndrome,[Ostravik-Lindemann-Solberg syndrome],"A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.",[217085],,,,,Heart defect-tongue hamartoma-polysyndactyly syndrome,TRUE,FALSE,Active +GARD:4168,Active,Orphanet,ORPHA:2791,Disorder,[Malformation syndrome],Otodental syndrome,"[Globodontia, Otodental dysplasia]",Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.,[166750],,,,,Otodental dysplasia,TRUE,FALSE,Active +GARD:4169,Active,Orphanet,ORPHA:2792,Disorder,[Malformation syndrome],Otofaciocervical syndrome,"[Fara-Chlupackova syndrome, OFC syndrome]","Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.","[166780, 615560]",,,,,Otofaciocervical syndrome,TRUE,FALSE,Active +GARD:417,Legacy,GARD,,,,,,,,,,,,Aloi Tomasini Isaia syndrome,TRUE,FALSE,Retired +GARD:4170,Active,Orphanet,ORPHA:2793,Disorder,[Malformation syndrome],Otoonychoperoneal syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.",[259780],,,,,Otoonychoperoneal syndrome,TRUE,FALSE,Active +GARD:4174,Legacy,GARD,,,,,,,,,,,,"Otosclerosis, familial",TRUE,FALSE,Active +GARD:4176,Active,Orphanet,ORPHA:1179,Disorder,[Disease],Benign paroxysmal tonic upgaze of childhood with ataxia,[Ouvrier-Billson syndrome],"Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.",[168885],,,,,Ouvrier Billson syndrome,TRUE,FALSE,Active +GARD:4179,Legacy,GARD,,,,,,,,,,,,Ovarian insufficiency due to FSH resistance,TRUE,FALSE,Retired +GARD:418,Active,Orphanet,ORPHA:2843,Disorder,[Disease],Pentosuria,"[Essential pentosuria, Xylitol dehydrogenase deficiency]",Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.,[260800],,,,,Pentosuria,TRUE,FALSE,Active +GARD:4181,Legacy,GARD,,,,,,,,,,,,Overgrowth radial ray defect arthrogryposis,TRUE,FALSE,Retired +GARD:4183,Active,Orphanet,ORPHA:3203,Disorder,[Disease],Overhydrated hereditary stomatocytosis,,Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.,[185000],,,,,Overhydrated hereditary stomatocytosis,TRUE,FALSE,Active +GARD:4188,Legacy,GARD,,,,,,,,,,,,Pachyonychia congenita type 2,TRUE,FALSE,Retired +GARD:4189,Active,Orphanet,ORPHA:1952,Disorder,[Malformation syndrome],Epiphyseal stippling-osteoclastic hyperplasia syndrome,[Pacman dysplasia],"A rare disorder characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.",[167220],,,,,Pacman dysplasia,TRUE,FALSE,Active +GARD:4191,Legacy,GARD,,,,,,,,,,,,"Paget disease of bone, familial",TRUE,FALSE,Active +GARD:4192,Active,Orphanet,ORPHA:2800,Disorder,[Disease],Extramammary Paget disease,,"A rare skin tumor characterized by predominantly intraepithelial growth of an adenocarcinoma which may either arise primarily in the skin (primary extramammary Paget disease) or result from intraepithelial spread of a visceral carcinoma (secondary extramammary Paget disease). The lesion is typically located in the anogenital region, presenting as a scaly, oozing, pruritic or painful erythematous plaque often resembling eczema. It may exhibit an invasive component with a significant risk of lymph node metastasis.",[167300],,,,,Extramammary Paget disease,TRUE,FALSE,Active +GARD:4195,Legacy,GARD,,,,,,,,,,,,Pagon Stephan syndrome,TRUE,FALSE,Active +GARD:4198,Legacy,GARD,,,,,,,,,,,,Palant cleft palate syndrome,TRUE,FALSE,Active +GARD:4199,Active,Orphanet,ORPHA:2184,Disorder,[Malformation syndrome],Hydrocephaly-low insertion umbilicus syndrome,[Palmer-Pagon syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993.",,,,,,Palmer Pagon syndrome,TRUE,FALSE,Active +GARD:42,Active,Orphanet,ORPHA:3310,Disorder,[Malformation syndrome],Tetrasomy 9p,[Isochromosome 9p],"Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).",,,,,,Tetrasomy 9p,TRUE,FALSE,Active +GARD:420,Active,Orphanet+OMIM,OMIM:276300,Subtype of disorder,[Disease subtype],Mismatch repair cancer syndrome 1,"[Constitutional mismatch repair deficiency syndrome, childhood cancer syndrome, brain tumor-polyposis syndrome 1, mmr deficiency, turcot syndrome, btp1 syndrome, mismatch repair deficiency]","Mismatch repair cancer syndrome (MMRCS) is a rare autosomal recessive childhood cancer predisposition syndrome with 4 main tumor types: hematologic malignancies, brain/central nervous system tumors, colorectal tumors and multiple intestinal polyps, and other malignancies including embryonic tumors and rhabdomyosarcoma. Many patients show signs reminiscent of neurofibromatosis type I (NF1; {162200}), particularly multiple cafe-au-lait macules (summary by {1:Baas et al., 2013}).\n\n{31:Wimmer and Etzler (2008)} provided a review of the mismatch cancer repair syndrome and suggested that the prevalence may be underestimated.\n\n<Subhead> Genetic Heterogeneity of Mismatch Repair Cancer Syndrome\n\nMMRCS2 ({619096}) is caused by mutation in the MSH2 gene ({609309}) on chromosome 2p21-p16. MMRCS3 ({619097}) is caused by mutation in the MSH6 gene ({600678}) on chromosome 2p16. MMRCS4 ({619101}) is caused by mutation in the PMS2 gene ({600259}) on chromosome 7p22.\n\nPatients with familial adenomatous polyposis (FAP; {175100}), an autosomal dominant disorder that results from heterozygous mutations in the APC gene, may also develop brain tumors or extracolonic malignancies, resulting in a similar clinical phenotype.\n\nHeterozygous mutations in the MMR genes result in hereditary nonpolyposis colorectal cancer (see, e.g., HNPCC1, {120435}).",[276300],[252202],[Constitutional mismatch repair deficiency syndrome],[17217],,Turcot syndrome,TRUE,FALSE,Active +GARD:4203,Active,Orphanet,ORPHA:2805,Disorder,[Morphological anomaly],Partial pancreatic agenesis,"[Congenital pancreatic agenesis, Partial agenesis of the pancreas]",Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.,"[167755, 615935, 260370]",,,,,Agenesis of the dorsal pancreas,TRUE,FALSE,Active +GARD:4204,Active,Orphanet,ORPHA:93292,Disorder,[Disease],Adenoma of pancreas,[Pancreatic adenoma],"A rare, benign tumor of the pancreas characterized by variable number and size of the cysts lined with glycogen rich epithelial cells. Clinical manifestation may include epigastric or abdominal pain, weight loss, diabetes, jaundice and palpable abdominal mass. Some patients have no symptoms and the tumor is discovered incidentally.",,,,,,Pancreatic adenoma,TRUE,FALSE,Active +GARD:4205,Legacy,GARD,,,,,,,,,,,,Pancreatic beta cell agenesis with neonatal diabetes mellitus,TRUE,FALSE,Retired +GARD:4206,Active,Orphanet,ORPHA:1333,Disorder,[Disease],Familial pancreatic carcinoma,[Familial pancreatic cancer],Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.,"[606856, 613347, 614320, 613348, 260350]",,,,,Familial pancreatic cancer,TRUE,FALSE,Active +GARD:4208,Legacy,GARD,,,,,,,,,,,,Pancreatic lipomatosis duodenal stenosis,TRUE,FALSE,Active +GARD:4210,Active,Orphanet,ORPHA:677,Disorder,[Disease],Pancreatoblastoma,,"A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells is characterized by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.",,,,,,Pancreatoblastoma,TRUE,FALSE,Active +GARD:4213,Active,Orphanet,ORPHA:93276,Subtype of disorder,[Clinical subtype],Polyostotic fibrous dysplasia,,,,,,,,Panostotic fibrous dysplasia,TRUE,FALSE,Active +GARD:4214,Active,Orphanet,ORPHA:2807,Disorder,[Disease],Papilloma of choroid plexus,"[CPP, Choroid plexus papilloma]","A rare benign type of choroid plexus tumor often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.",[260500],,,,,Choroid plexus papilloma,TRUE,FALSE,Active +GARD:4215,Legacy,GARD,,,,,,,,,,,,Parainfluenza virus type 3,TRUE,FALSE,Active +GARD:4218,Legacy,GARD,,,,,,,,,,,,Paraomphalocele,TRUE,FALSE,Active +GARD:4219,Active,Orphanet,ORPHA:100998,Disorder,[Disease],Autosomal dominant spastic paraplegia type 17,"[SPG17, Silver syndrome, Spastic paraplegia-amyotrophy of hands and feet]","A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.",[270685],,,,,Spastic paraplegia 17,TRUE,FALSE,Active +GARD:422,Legacy,GARD,,,,,,,,,,,,Tunglang Savage Bellman syndrome,TRUE,FALSE,Active +GARD:4222,Active,Orphanet,ORPHA:2646,Disorder,[Malformation syndrome],Parastremmatic dwarfism,,"A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.",[168400],,,,,Parastremmatic dwarfism,TRUE,FALSE,Active +GARD:4223,Active,Orphanet,ORPHA:2825,Disorder,[Malformation syndrome],PARC syndrome,[Poikiloderma-alopecia-retrognathism-cleft palate syndrome],"PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.",[600331],,,,,PARC syndrome,TRUE,FALSE,Active +GARD:4224,Active,Orphanet,ORPHA:851,Disorder,[Disease],Paris-Trousseau thrombocytopenia,,"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.","[188025, 617443]",,,,,Paris-Trousseau thrombocytopenia,TRUE,FALSE,Active +GARD:4227,Active,Orphanet,ORPHA:228140,Disorder,[Disease],"Idiopathic ventricular fibrillation, non Brugada type","[Familial paroxysmal ventricular fibrillation, non Brugada type]","A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.","[603829, 612956]",,,,,Paroxysmal ventricular fibrillation,TRUE,FALSE,Active +GARD:4228,Active,Orphanet,ORPHA:2901,Disorder,[Disease],Neuralgic amyotrophy,"[Acute brachial plexus neuritis, Brachial plexus neuritis, Immune brachial plexus neuropathy, Mononeuritis multiplex with brachial predilection, Neuralgic shoulder amyotrophy]","A rare disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.",[162100],,,,,Parsonage Turner syndrome,TRUE,FALSE,Active +GARD:4229,Active,Orphanet,ORPHA:1330,Disorder,[Morphological anomaly],Partial atrioventricular septal defect,"[PAVC, Partial AVSD, Partial atrioventricular canal defect]","A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (''cleft''). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum.",,,,,,Partial atrioventricular canal,TRUE,FALSE,Active +GARD:4230,Legacy,GARD,,,,,,,,,,,,Partial deletion of Y,TRUE,FALSE,Active +GARD:4232,Legacy,GARD,,,,,,,,,,,,Partial lissencephaly,TRUE,FALSE,Retired +GARD:4234,Legacy,GARD,,,,,,,,,,,,Partington Anderson syndrome,TRUE,FALSE,Retired +GARD:4235,Active,Orphanet,ORPHA:94083,Disorder,[Malformation syndrome],Partington syndrome,"[Partington-Mulley syndrome, X-linked intellectual disability-dystonia-dysarthria syndrome]","Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (ARX) gene (Xp22.13). Transmission is X-linked recessive.",[309510],,,,,Partington syndrome,TRUE,FALSE,Active +GARD:4236,Active,Orphanet,ORPHA:295,Disorder,[Malformation syndrome],Fetal parvovirus syndrome,"[Mother-to-child transmission of parvovirus syndrome, Parvovirus antenatal infection]","Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.",,,,,,Parvovirus antenatal infection,TRUE,FALSE,Active +GARD:4238,Active,Orphanet,ORPHA:1252,Disorder,[Malformation syndrome],Blepharonasofacial malformation syndrome,"[Pashayan syndrome, Pashayan-Pruzansky syndrome]","Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.",[110050],,,,,Blepharonasofacial malformation syndrome,TRUE,FALSE,Active +GARD:424,Active,Orphanet,ORPHA:3469,Disorder,[Malformation syndrome],XK aprosencephaly syndrome,"[Garcia-Lurie syndrome, XK syndrome, XK-aprosencephaly]","A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.",[207770],,,,,XK aprosencephaly,TRUE,FALSE,Active +GARD:425,Active,Orphanet,ORPHA:1063,Disorder,[Disease],Tufted angioma,[Nakagawa angioblastoma],A rare vascular tumour that may be either congenital or acquired (appearing before the age of 5 years) with slow angiomatous proliferation.,[607859],,,,,Tufted angioma,TRUE,FALSE,Active +GARD:4253,Legacy,GARD,,,,,,,,,,,,Patel Bixler syndrome,TRUE,FALSE,Retired +GARD:4255,Legacy,GARD,,,,,,,,,,,,Patella hypoplasia mental retardation,TRUE,FALSE,Retired +GARD:4259,Active,Orphanet,ORPHA:2976,Disorder,[Malformation syndrome],"Pseudoleprechaunism syndrome, Patterson type","[Patterson pseudoleprechaunism syndrome, Patterson syndrome]","Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.",[169170],,,,,Patterson pseudoleprechaunism syndrome,TRUE,FALSE,Active +GARD:4260,Active,Orphanet,ORPHA:2439,Disorder,[Malformation syndrome],Patterson-Stevenson-Fontaine syndrome,"[Patterson-Stevenson syndrome, Split foot deformity-mandibulofacial dysostosis syndrome]",Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.,[183700],,,,,Patterson-Stevenson-Fontaine syndrome,TRUE,FALSE,Active +GARD:4261,Active,Orphanet,ORPHA:85410,Disorder,[Disease],Oligoarticular juvenile idiopathic arthritis,"[Oligoarticular JIA, Pauciarticular chronic arthritis]",A rare inflammatory rheumatic disease characterized by juvenile onset arthritis that affects fewer than 5 joints during the first 6 months after disease onset.,,,,,,Pauciarticular chronic arthritis,TRUE,FALSE,Active +GARD:4262,Legacy,GARD,,,,,,,,,,,,Syndactyly type 1 with cataracts and mental retardation,TRUE,FALSE,Retired +GARD:4264,Active,Orphanet,ORPHA:2836,Disorder,[Disease],PEHO syndrome,"[Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy, Progressive encephalopathy-optic atrophy syndrome]","PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.",[260565],,,,,PEHO syndrome,TRUE,FALSE,Active +GARD:4265,Active,Orphanet,ORPHA:702,Disorder,[Disease],Pelizaeus-Merzbacher disease,"[Diffuse familial brain sclerosis, PMD, Pelizaeus-Merzbacher brain sclerosis, Sudanophilic leukodystrophy, Paelizeus-Merzbacher type]","Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms).","[312080, 213900]",,,,,Pelizaeus-Merzbacher disease,TRUE,FALSE,Active +GARD:4266,Active,Orphanet,ORPHA:280293,Subtype of disorder,[Clinical subtype],Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,,,[260600],,,,,"Leukodystrophy, hypomyelinating 3",TRUE,FALSE,Active +GARD:4267,Legacy,GARD,,,,,,,,,,,,Pellagra like syndrome,TRUE,FALSE,Active +GARD:4268,Legacy,GARD,,,,,,,,,,,,Tryptophanuria with dwarfism,TRUE,FALSE,Active +GARD:4269,Active,Orphanet,ORPHA:2840,Disorder,[Malformation syndrome],Pelvic dysplasia-arthrogryposis of lower limbs syndrome,[Ray-Peterson-Scott syndrome],"Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.",[602484],,,,,Pelvic dysplasia arthrogryposis of lower limbs,TRUE,FALSE,Active +GARD:427,Active,Orphanet,ORPHA:2997,Disorder,[Malformation syndrome],Ptosis-vocal cord paralysis syndrome,[Tucker syndrome],"Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.",[193240],,,,,Tucker syndrome,TRUE,FALSE,Active +GARD:4270,Active,Orphanet+OMIM,OMIM:169610,Subtype of disorder,[Disease subtype],"Pemphigus vulgaris, familial",,"Pemphigus vulgaris (PV) is a rare, blistering autoimmune disease that affects the skin and mucous membranes. Patients have circulating antibody to an intercellular cement substance, and deposition in vivo of this antibody is a hallmark of the disease. The antibody appears to be pathogenetic, since newborn infants of mothers with pemphigus may have blisters, and newborn mice injected with the antibody from patients have clinical pemphigus. The disease is reported to have a particularly high incidence among Jews (summary by {2:Ahmed et al., 1990}).",[169610],[704],[Pemphigus vulgaris],[7355],,Familial pemphigus vulgaris,TRUE,FALSE,Retired +GARD:4271,Active,Orphanet,ORPHA:705,Disorder,[Malformation syndrome],Pendred syndrome,"[Goiter-deafness syndrome, Goiter-hearing loss syndrome]",A syndromic genetic deafness clinically variable characterized by bilateral sensorineural hearing loss and euthyroid goiter.,[274600],,,,,Pendred syndrome,TRUE,FALSE,Active +GARD:4272,Active,Orphanet,ORPHA:49,Disorder,[Morphological anomaly],Penile agenesis,"[Aphallia, Penis agenesis]","Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.",,,,,,Penis agenesis,TRUE,FALSE,Active +GARD:4273,Active,Orphanet,ORPHA:2842,Disorder,[Morphological anomaly],Penoscrotal transposition,,"A rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).",,,,,,Penoscrotal transposition,TRUE,FALSE,Active +GARD:4276,Active,Orphanet,ORPHA:363665,Disorder,[Disease],Acroosteolysis-keloid-like lesions-premature aging syndrome,"[Premature aging syndrome, Penttinen type]","A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.",[601812],,,,,Acroosteolysis-keloid-like lesions-premature aging syndrome,TRUE,FALSE,Active +GARD:4278,Active,Orphanet+OMIM,OMIM:261680,Subtype of disorder,[Disease subtype],"Phosphoenolpyruvate carboxykinase deficiency, cytosolic","[pepck deficiency, cytosolic, Pck1 deficiency, cytosolic]","Cytosolic phosphoenolpyruvate carboxykinase deficiency causes a defect in gluconeogenesis that results in a 'biochemical signature' of fasting hypoglycemia with high tricarboxylic acid cycle intermediate excretion, particularly of fumarate. Other biochemical anomalies that may be seen during metabolic crisis include ketonuria, dicarboxylic aciduria, and urea cycle dysfunction ({7:Vieira et al., 2017}).\n\nSee PCKDM ({261650}) for a discussion of mitochondrial PCK (PEPCK2; {614095}) deficiency.",[261680],[2880],[Phosphoenolpyruvate carboxykinase deficiency],[16613],,PEPCK 1 deficiency,TRUE,FALSE,Active +GARD:4279,Active,Orphanet+OMIM,OMIM:261650,Subtype of disorder,[Disease subtype],"Phosphoenolpyruvate carboxykinase deficiency, mitochondrial","[pepck2 deficiency, Pck2 deficiency]",,[261650],[2880],[Phosphoenolpyruvate carboxykinase deficiency],[16613],,PEPCK 2 deficiency,TRUE,FALSE,Active +GARD:428,Active,Orphanet,ORPHA:1521,Disorder,[Malformation syndrome],Craniofrontonasal dysplasia-Poland anomaly syndrome,[Webster-Deming syndrome],"Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly (see this term), cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.",,,,,,Webster Deming syndrome,TRUE,FALSE,Retired +GARD:4280,Legacy,GARD,,,,,,,,,,,,Peptidic growth factors deficiency,TRUE,FALSE,Retired +GARD:4284,Legacy,GARD,,,,,,,,,,,,Pericardium absent mental retardation short stature,TRUE,FALSE,Retired +GARD:429,Active,Orphanet,ORPHA:295000,Disorder,[Malformation syndrome],Constriction rings syndrome,"[Amniotic band sequence, Amniotic band syndrome, Congenital ring constrictions, Constriction band syndrome, Streeter dysplasia]","Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.",[217100],,,,,Amniotic band syndrome,TRUE,FALSE,Active +GARD:4291,Active,Orphanet+OMIM,OMIM:610422,Subtype of disorder,[Disease subtype],Alopecia-intellectual disability syndrome 2,,"For a discussion of genetic heterogeneity of alopecia-intellectual disability syndrome, see APMR1 ({203650}).",[610422],[2850],[Alopecia-intellectual disability syndrome],[612],,Alopecia intellectual disability syndrome 2,TRUE,FALSE,Active +GARD:4299,Active,Orphanet,ORPHA:2776,Disorder,[Malformation syndrome],Autosomal recessive distal osteolysis syndrome,"[Distal osteolysis-short stature-intellectual disability syndrome, Petit-Fryns syndrome]","An early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.",[259610],,,,,Petit-Fryns syndrome,TRUE,FALSE,Retired +GARD:43,Active,Orphanet,ORPHA:99776,Disorder,[Malformation syndrome],Mosaic trisomy 9,"[Mosaic trisomy chromosome 9, Trisomy 9 mosaicism]","Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.",,,,,,Mosaic trisomy 9,TRUE,FALSE,Active +GARD:430,Legacy,GARD,,,,,,,,,,,,Tachycardia hypertension microphthalmia and hyperglycinuria,TRUE,FALSE,Retired +GARD:4302,Active,Orphanet,ORPHA:2496,Disorder,[Malformation syndrome],Mesomelia-synostoses syndrome,"[8q13 microdeletion syndrome, Del(8)q(13), Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type, Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type, Monosomy 8q13, Verloes-David syndrome]","A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies.",[600383],,,,,Mesomelia-synostoses syndrome,TRUE,FALSE,Active +GARD:4303,Active,Orphanet,ORPHA:3224,Disorder,[Malformation syndrome],Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,"[Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome, Pfeiffer-Kapferer syndrome]","Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).",,,,,,Pfeiffer Kapferer syndrome,TRUE,FALSE,Active +GARD:4304,Active,Orphanet,ORPHA:2921,Disorder,[Malformation syndrome],Preaxial polydactyly-colobomata-intellectual disability syndrome,[Pfeiffer-Mayer syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.",,,,,,Pfeiffer Mayer syndrome,TRUE,FALSE,Active +GARD:4305,Active,Orphanet,ORPHA:2871,Disorder,[Malformation syndrome],Pfeiffer-Palm-Teller syndrome,,"Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.",[261560],,,,,Pfeiffer Palm Teller syndrome,TRUE,FALSE,Active +GARD:4306,Legacy,GARD,,,,,,,,,,,,Pfeiffer Rockelein syndrome,TRUE,FALSE,Active +GARD:4308,Legacy,GARD,,,,,,,,,,,,Pfeiffer Tietze Welte syndrome,TRUE,FALSE,Active +GARD:431,Active,Orphanet,ORPHA:83463,Disorder,[Morphological anomaly],Microtia,,"A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.","[128800, 600674]",,,,,Microtia-Anotia,TRUE,FALSE,Active +GARD:4311,Active,Orphanet,ORPHA:2874,Disorder,[Malformation syndrome],Phakomatosis pigmentokeratotica,,"Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.",,,,,,Phacomatosis pigmentokeratotica,TRUE,FALSE,Active +GARD:4312,Active,Orphanet,ORPHA:2875,Disorder,[Disease],Phakomatosis pigmentovascularis,,"A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics.",,,,,,Phacomatosis pigmentovascularis,TRUE,FALSE,Active +GARD:4315,Active,Orphanet,ORPHA:1919,Disorder,[Malformation syndrome],Phenobarbital embryopathy,,"A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.",,,,,,Phenobarbital antenatal exposure,TRUE,FALSE,Active +GARD:4319,Active,Orphanet,ORPHA:226,Subtype of disorder,[Clinical subtype],Dihydropteridine reductase deficiency,"[Hyperphenylalaninemia due to dihydropteridine reductase deficiency, PKU type 2, Phenylketonuria type 2]","Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.",[261630],,,,,Dihydropteridine reductase deficiency,TRUE,FALSE,Active +GARD:432,Legacy,GARD,,,,,,,,,,,,Arbovirosis,TRUE,FALSE,Active +GARD:4321,Legacy,GARD,,,,,,,,,,,,Pheochromocytoma-islet cell tumor syndrome,TRUE,FALSE,Active +GARD:4323,Active,Orphanet,ORPHA:2878,Disorder,[Malformation syndrome],Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome,"[Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome, Stoll-Lévy-Francfort syndrome]","Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.",[171480],,,,,Phocomelia ectrodactyly deafness sinus arrhythmia,TRUE,FALSE,Active +GARD:4329,Active,Orphanet,ORPHA:319646,Disorder,[Disease],PGM1-CDG,"[CDG syndrome type It, CDG-It, CDG1T, Congenital disorder of glycosylation type 1t, Congenital disorder of glycosylation type It, PGM1-related congenital disorder of glycosylation, Phosphoglucomutase-1 deficiency]","A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty.",[614921],,,,,PGM1-CDG,TRUE,FALSE,Active +GARD:433,Active,Orphanet,ORPHA:320,Disorder,[Disease],Apparent mineralocorticoid excess,"[11-beta-hydroxysteroid dehydrogenase deficiency type 2, Ulick syndrome]","A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.",[218030],,,,,Apparent mineralocorticoid excess,TRUE,FALSE,Active +GARD:4330,Legacy,GARD,,,,,,,,,,,,Phosphoglucomutase deficiency type 2,TRUE,FALSE,Retired +GARD:4331,Active,Orphanet,ORPHA:443811,Disorder,[Disease],PGM3-CDG,"[CID due to PGM3 deficiency, Combined immunodeficiency due to PGM3 deficiency, PGM3-related congenital disorder of glycosylation]","PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.",[615816],,,,,PGM3-CDG,TRUE,FALSE,Active +GARD:4332,Legacy,GARD,,,,,,,,,,,,Phosphoglucomutase deficiency type 4,TRUE,FALSE,Retired +GARD:4336,Legacy,GARD,,,,,,,,,,,,Phosphomannoisomerase deficiency,TRUE,FALSE,Active +GARD:4337,Active,Orphanet,ORPHA:3222,Disorder,[Disease],Phosphoribosylpyrophosphate synthetase superactivity,"[PRPP synthetase superactivity, PRPS1 superactivity]","A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.",[300661],,,,,Phosphoribosylpyrophosphate synthetase superactivity,TRUE,FALSE,Active +GARD:434,Active,Orphanet,ORPHA:2182,Subtype of disorder,[Clinical subtype],Hydrocephalus with stenosis of the aqueduct of Sylvius,"[Bickers-Adams syndrome, HSAS, X-linked HSAS, X-linked acqueductal stenosis, X-linked hydrocephalus, X-linked hydrocephalus with stenosis of aqueduct of Sylvius]","A congenital, X-linked, clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis.",[307000],,,,,Hydrocephalus due to congenital stenosis of aqueduct of sylvius,TRUE,FALSE,Active +GARD:4340,Legacy,GARD,,,,,,,,,,,,PIBIDS syndrome,TRUE,FALSE,Retired +GARD:4341,Legacy,GARD,,,,,,,,,,,,Picardi-Lassueur-Little syndrome,TRUE,FALSE,Retired +GARD:4344,Active,Orphanet,ORPHA:2884,Disorder,[Disease],Piebaldism,,"Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.",[172800],,,,,Piebaldism,TRUE,FALSE,Active +GARD:4345,Legacy,GARD,,,,,,,,,,,,Piepkorn Karp Hickok syndrome,TRUE,FALSE,Active +GARD:4346,Active,Orphanet,ORPHA:99,Group of disorders,[Category],Autosomal dominant cerebellar ataxia,"[ADCA, Autosomal dominant spinocerebellar ataxia]","A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.",,,,,,Autosomal dominant cerebellar ataxia,TRUE,FALSE,Active +GARD:4347,Active,Orphanet,ORPHA:718,Disorder,[Malformation syndrome],Isolated Pierre Robin syndrome,[Isolated Pierre Robin sequence],"A rare, congenital head and neck malformation characterized by the association of retrognathia and glossoptosis, with or without cleft palate, and respiratory obstruction.",[261800],,,,,Pierre Robin sequence,TRUE,FALSE,Active +GARD:435,Active,Orphanet,ORPHA:1995,Disorder,[Malformation syndrome],Cleft lip-retinopathy syndrome,"[Ausems-Wittebol Post-Hennekam syndrome, Cleft lip-cone rod dystrophy syndrome, Cleft lip-progressive retinopathy syndrome]",An exceedingly rare association characterized by cleft lip and progressive retinopathy.,,,,,,Ausems Wittebol-Post Hennekam syndrome,TRUE,FALSE,Active +GARD:4351,Legacy,GARD,,,,,,,,,,,,Weissenbacher-Zweymuller syndrome,TRUE,FALSE,Active +GARD:4354,Legacy,GARD,,,,,,,,,,,,Pierre Robin syndrome skeletal dysplasia polydactyly,TRUE,FALSE,Active +GARD:4356,Legacy,GARD,,,,,,,,,,,,Pigment-dispersion syndrome,TRUE,FALSE,Active +GARD:4357,Active,Orphanet,ORPHA:67042,Disorder,[Disease],Late-onset retinal degeneration,"[Autosomal dominant late-onset retinal degeneration, LORD]","Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.",[605670],,,,,Late-onset retinal degeneration,TRUE,FALSE,Active +GARD:4358,Active,Orphanet,ORPHA:169095,Disorder,[Disease],Severe combined immunodeficiency due to FOXN1 deficiency,"[Alymphoid cystic thymic dysgenesis, Nude/SCID, Nude/severe combined immunodeficiency, SCID due to FOXN1 deficiency, Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome, Winged helix deficiency]","A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.","[601705, 618806]",,,,,"T-cell immunodeficiency, congenital alopecia and nail dystrophy",TRUE,FALSE,Active +GARD:4359,Active,Orphanet,ORPHA:169,Disorder,[Disease],Ringed hair disease,[Pili annulati],"A rare isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or, very rarely, beard, axillary, or pubic hair. Hair is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.",[180600],,,,,Pili annulati,TRUE,FALSE,Active +GARD:436,Active,Orphanet,ORPHA:829,Disorder,[Disease],Adult-onset Still disease,"[AOSD, Wissler-Fanconi syndrome]","A rare inflammatory multisystem disorder characterized clinically by four cardinal signs: fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.",,,,,,Adult-onset Still's disease,TRUE,FALSE,Active +GARD:4360,Legacy,GARD,,,,,,,,,,,,Pili multigemini,FALSE,FALSE,Retired +GARD:4361,Active,Orphanet,ORPHA:2889,Disorder,[Disease],Pili torti,[Twisted hair],Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).,[261900],,,,,Pili torti,TRUE,FALSE,Active +GARD:4362,Active,Orphanet,ORPHA:2891,Disorder,[Malformation syndrome],Pili torti-developmental delay-neurological abnormalities syndrome,,"Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.",[261990],,,,,Pili torti developmental delay neurological abnormalities,TRUE,FALSE,Active +GARD:4364,Active,Orphanet,ORPHA:2890,Disorder,[Malformation syndrome],Pili torti-onychodysplasia syndrome,,"A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.",,,,,,Pili torti onychodysplasia,TRUE,FALSE,Active +GARD:4365,Active,Orphanet,ORPHA:2741,Disorder,[Malformation syndrome],Ophthalmomandibulomelic dysplasia,"[OMM syndrome, Pillay syndrome]","Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.",[164900],,,,,Pillay syndrome,TRUE,FALSE,Active +GARD:4366,Legacy,GARD,,,,,,,,,,,,Pilo dento ungular dysplasia microcephaly,TRUE,FALSE,Retired +GARD:4368,Legacy,GARD,,,,,,,,,,,,Pilotto syndrome,TRUE,FALSE,Active +GARD:4369,Active,Orphanet,ORPHA:3353,Disorder,[Malformation syndrome],Trichodermodysplasia-dental alterations syndrome,[Pinheiro-Freire Maia-Miranda syndrome],"Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.",,,,,,Pinheiro Freire-Maia Miranda syndrome,TRUE,FALSE,Active +GARD:4370,Legacy,GARD,,,,,,,,,,,,Microphthalmia mental deficiency,TRUE,FALSE,Retired +GARD:4371,Legacy,GARD,,,,,,,,,,,,Refsum disease with increased pipecolic acidemia,TRUE,FALSE,Active +GARD:4372,Active,Orphanet,ORPHA:2896,Disorder,[Malformation syndrome],Pitt-Hopkins syndrome,,"A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing.",[610954],,,,,Pitt-Hopkins syndrome,TRUE,FALSE,Active +GARD:4374,Legacy,GARD,,,,,,,,,,,,Pitt syndrome,TRUE,FALSE,Retired +GARD:4375,Active,Orphanet,ORPHA:1078,Disorder,[Malformation syndrome],Thumb stiffness-brachydactyly-intellectual disability syndrome,[Piussan-Lenaerts-Mathieu syndrome],"A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.",[188201],,,,,Piussan Lenaerts Mathieu syndrome,TRUE,FALSE,Active +GARD:4377,Legacy,GARD,,,,,,,,,,,,Plagiocephaly and X-linked mental retardation,TRUE,FALSE,Retired +GARD:4379,Legacy,GARD,,,,,,,,,,,,Plasmalogens synthesis deficiency isolated,TRUE,FALSE,Retired +GARD:438,Active,Orphanet,ORPHA:62,Disorder,[Disease],Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3,"[Alpha-sarcoglycan-related LGMD R3, Alpha-sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2D, LGMD due to alpha-sarcoglycan deficiency, LGMD type 2D, LGMD2D, Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency, Limb-girdle muscular dystrophy type 2D]","A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.",[608099],,,,,"Limb-girdle muscular dystrophy, type 2D",TRUE,FALSE,Active +GARD:4380,Active,Orphanet,ORPHA:722,Disorder,[Disease],Hypoplasminogenemia,[Plasminogen deficiency type 1],A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.,[217090],,,,,Type 1 plasminogen deficiency,TRUE,FALSE,Active +GARD:4381,Active,Orphanet,ORPHA:465,Disorder,[Disease],Congenital plasminogen activator inhibitor type 1 deficiency,[Congenital PAI-1 deficiency],A rare hemorrhagic disorder due to a constitutional haemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.,[613329],,,,,Plasminogen activator inhibitor type 1 deficiency,TRUE,FALSE,Active +GARD:4382,Active,Orphanet,ORPHA:85166,Disorder,[Malformation syndrome],"Platyspondylic dysplasia, Torrance type","[PLSD-T, Platyspondylic dysplasia, Torrance-Luton type, Platyspondylic lethal skeletal dysplasia, Torrance type]","Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.",[151210],,,,,Platyspondylic lethal skeletal dysplasia Torrance type,TRUE,FALSE,Active +GARD:4386,Active,Orphanet,ORPHA:723,Disorder,[Disease],Pneumocystosis,,"Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.",,,,,,Pneumocystosis,TRUE,FALSE,Active +GARD:4387,Legacy,GARD,,,,,,,,,,,,Podder-Tolmie syndrome,TRUE,FALSE,Active +GARD:439,Legacy,GARD,,,,,,,,,,,,Abdominal cystic lymphangioma,TRUE,FALSE,Active +GARD:4391,Active,Orphanet,ORPHA:2908,Disorder,[Disease],Kindler epidermolysis bullosa,"[Congenital bullous poikiloderma, Kindler syndrome, Poikiloderma of Kindler]",A rare inherited epidermolysis bullosa (EB) characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.,,,,,,Kindler syndrome,TRUE,FALSE,Active +GARD:4392,Active,Orphanet,ORPHA:2909,Disorder,[Disease],Rothmund-Thomson syndrome,"[Poikiloderma of Rothmund-Thomson, RTS]","Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.",[268400],,,,,Rothmund-Thomson syndrome,TRUE,FALSE,Active +GARD:4395,Legacy,GARD,,,,,,,,,,,,Pointer syndrome,TRUE,FALSE,Active +GARD:44,Active,Orphanet,ORPHA:2342,Disorder,[Disease],Haim-Munk syndrome,"[Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome, Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome, Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome]","Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.",[245010],,,,,Haim-Munk syndrome,TRUE,FALSE,Active +GARD:4404,Legacy,GARD,,,,,,,,,,,,"Polycystic kidney disease, type 1",FALSE,FALSE,Retired +GARD:4405,Legacy,GARD,,,,,,,,,,,,"Polycystic kidney disease, type 2",FALSE,FALSE,Retired +GARD:4406,Legacy,GARD,,,,,,,,,,,,"Polycystic kidney disease, type 3",FALSE,FALSE,Retired +GARD:4410,Active,Orphanet,ORPHA:2913,Group of disorders,[Category],Non-syndromic polydactyly,,,[603596],,,,,Polydactyly,TRUE,FALSE,Active +GARD:4412,Active,Orphanet,ORPHA:2754,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 6,"[Joubert syndrome with oral-facial-digital syndrome, Joubert syndrome with orofaciodigital defect, OFD6, Oral-facial-digital syndrome type 6, Polydactyly-cleft lip/palate-psychomotor retardation syndrome, Váradi syndrome, Váradi-Papp syndrome]","Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.","[615665, 277170, 300804, 618763, 614815, 617127]",,,,,Orofaciodigital syndrome 6,TRUE,FALSE,Active +GARD:4413,Active,Orphanet,ORPHA:2917,Disorder,[Malformation syndrome],Polydactyly-myopia syndrome,[Czeizel-Brooser syndrome],Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.,[174310],,,,,Polydactyly myopia syndrome,TRUE,FALSE,Active +GARD:4414,Active,Orphanet+OMIM,OMIM:174200,Subtype of disorder,[Morphological anomaly subtype],"Polydactyly, postaxial, type a1","[Postaxial polydactyly, type a, polydactyly, postaxial]","Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by {17:Umm-e-Kalsoom et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Postaxial Polydactyly\n\nOther forms of postaxial polydactyly type A include PAPA2 ({602085}) on chromosome 13q21; PAPA3 ({607324}) on chromosome 19p13; PAPA4 ({608562}) on chromosome 7q22; PAPA5 ({263450}) on chromosome 13q13; PAPA6 ({615226}), caused by mutation in the ZNF141 gene ({194648}) on chromosome 4p16; PAPA7 ({617642}), caused by mutation in the IQCE gene ({617631}) on chromosome 7p22; PAPA8 ({618123}), caused by mutation in the GLI1 gene ({165220}) on chromosome 12q13; PAPA9 ({618219}), caused by mutation in the FAM98A gene ({617273}) on chromosome 8q22; and PAPA10 ({618498}), caused by mutation in the KIAA0825 gene ({617266}) on chromosome 5q15.",[174200],[93334],[Postaxial polydactyly type A],[16817],,Polydactyly postaxial,TRUE,FALSE,Retired +GARD:4415,Legacy,GARD,,,,,,,,,,,,Polydactyly postaxial dental and vertebral,TRUE,FALSE,Active +GARD:4417,Active,Orphanet,ORPHA:93339,Disorder,[Morphological anomaly],Polydactyly of a biphalangeal thumb,"[PPD1, Preaxial polydactyly type 1]","Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.",[174400],,,,,Preaxial polydactyly type 1,TRUE,FALSE,Active +GARD:4418,Legacy,GARD,,,,,,,,,,,,Polydactyly syndrome middle ray duplication,TRUE,FALSE,Active +GARD:4420,Legacy,GARD,,,,,,,,,,,,Polymicrogyria turricephaly hypogenitalism,TRUE,FALSE,Retired +GARD:4421,Active,Orphanet,ORPHA:3286,Disorder,[Disease],Catecholaminergic polymorphic ventricular tachycardia,"[Bidirectional ventricular tachycardia induced by catecholamine, CPVT, Malignant paroxysmal ventricular tachycardia, Polymorphic ventricular tachycardia induced by catecholamines]","A rare, severe genetic arrhythmogenic disorder of the structurally normal heart characterized by catecholamine-induced ventricular tachycardia (VT) manifesting as syncope and sudden death in young individuals.","[615441, 614021, 611938, 614916, 604772]",,,,,Catecholaminergic polymorphic ventricular tachycardia,TRUE,FALSE,Active +GARD:4424,Active,Orphanet,ORPHA:2928,Disorder,[Malformation syndrome],Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,[Lundberg syndrome],"Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.",,,,,,Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,TRUE,FALSE,Active +GARD:4427,Active,Orphanet,ORPHA:2930,Disorder,[Disease],Cronkhite-Canada syndrome,"[Gastrointestinal polyposis-ectodermal changes syndrome, Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome]","Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.",[175500],,,,,Cronkhite-Canada disease,TRUE,FALSE,Active +GARD:4428,Active,Orphanet,ORPHA:2934,Disorder,[Malformation syndrome],Polysyndactyly-cardiac malformation syndrome,[Bonneau syndrome],"A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.",[263630],,,,,Polysyndactyly cardiac malformation,TRUE,FALSE,Active +GARD:4432,Legacy,GARD,,,,,,,,,,,,Polysyndactyly trigonocephaly agenesis of corpus callosum,TRUE,FALSE,Retired +GARD:4434,Active,Orphanet,ORPHA:93405,Disorder,[Morphological anomaly],Syndactyly type 4,"[Polysyndactyly, Haas type]","A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected.",[186200],,,,,Syndactyly type 4,TRUE,FALSE,Active +GARD:4435,Legacy,GARD,,,,,,,,,,,,Poncet-Spiegler's cylindroma,TRUE,FALSE,Active +GARD:4436,Active,Orphanet,ORPHA:1234,Disorder,[Malformation syndrome],Bartsocas-Papas syndrome,"[Autosomal recessive popliteal pterygium syndrome, Lethal popliteal pterygium syndrome]","Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.","[263650, 619339]",,,,,"Popliteal pterygium syndrome, Bartsocas-Papas type",TRUE,FALSE,Active +GARD:4437,Active,Orphanet,ORPHA:2941,Disorder,[Malformation syndrome],Porencephaly-cerebellar hypoplasia-internal malformations syndrome,[Bonnemann-Meinecke syndrome],"Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.",[601322],,,,,Porencephaly cerebellar hypoplasia internal malformations,TRUE,FALSE,Active +GARD:4438,Active,Orphanet,ORPHA:735,Disorder,[Disease],Porokeratosis of Mibelli,,"A rare skin disease that is characterized by the presence of brownish single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.","[175900, 175800]",,,,,Porokeratosis of Mibelli,TRUE,FALSE,Active +GARD:4439,Active,Orphanet,ORPHA:79502,Disorder,[Disease],Punctate palmoplantar keratoderma type 2,"[PPKP2, PPPP, Punctate palmoplantar hyperkeratosis type 2]","Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.",[175860],,,,,Punctate palmoplantar keratoderma type 2,TRUE,FALSE,Active +GARD:4445,Legacy,GARD,,,,,,,,,,,,Aminolevulinate dehydratase deficiency porphyria,TRUE,FALSE,Active +GARD:4446,Active,Orphanet,ORPHA:79277,Disorder,[Disease],Congenital erythropoietic porphyria,"[CEP, Günther disease]","Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.",[263700],,,,,Congenital erythropoietic porphyria,TRUE,FALSE,Active +GARD:4449,Legacy,GARD,,,,,,,,,,,,Portal hypertension due to infrahepatic block,TRUE,FALSE,Retired +GARD:4453,Legacy,GARD,,,,,,,,,,,,Positive rheumatoid factor polyarthritis,TRUE,FALSE,Active +GARD:4454,Active,Orphanet,ORPHA:2942,Disorder,[Disease],Postpoliomyelitis syndrome,"[Postpolio sequelae, Postpolio syndrome, Postpoliomyelitic syndrome, Postpoliomyelitis sequelae]","Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis (see this term), 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.",,,,,,Post Polio syndrome,TRUE,FALSE,Active +GARD:4456,Legacy,GARD,,,,,,,,,,,,Postaxial polydactyly mental retardation,TRUE,FALSE,Retired +GARD:4457,Active,Orphanet,ORPHA:280892,Group of disorders,[Category],Posterior uveitis,[Choroiditis],,,,,,,Posterior uveitis,TRUE,FALSE,Active +GARD:4458,Legacy,GARD,,,,,,,,,,,,Posterior valve urethra,TRUE,FALSE,Retired +GARD:4459,Active,Orphanet,ORPHA:612,Group of disorders,[Clinical group],Potassium-aggravated myotonia,"[K+-aggravated myotonia, K-aggravated myotonia, PAM]","A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.",[608390],,,,,Potassium aggravated myotonia,TRUE,FALSE,Active +GARD:4460,Legacy,GARD,,,,,,,,,,,,Potter syndrome type 1,TRUE,FALSE,Retired +GARD:4461,Legacy,GARD,,,,,,,,,,,,Potter syndrome type 3,TRUE,FALSE,Retired +GARD:4462,Legacy,GARD,,,,,,,,,,,,Potter sequence,TRUE,FALSE,Active +GARD:4463,Legacy,GARD,,,,,,,,,,,,Potter syndrome type 2,TRUE,FALSE,Retired +GARD:4464,Legacy,GARD,,,,,,,,,,,,Powell Buist Stenzel syndrome,TRUE,FALSE,Retired +GARD:4465,Active,Orphanet,ORPHA:2876,Disorder,[Malformation syndrome],PHAVER syndrome,[Powell-Chandra-Saal syndrome],"A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.",[261575],,,,,PHAVER syndrome,TRUE,FALSE,Active +GARD:4466,Legacy,GARD,,,,,,,,,,,,Venencie Powell Gordon Winkelmann syndrome,TRUE,FALSE,Retired +GARD:4468,Legacy,GARD,,,,,,,,,,,,Prata Libéral Gonçalves syndrome,TRUE,FALSE,Retired +GARD:4470,Active,Orphanet,ORPHA:2957,Disorder,[Malformation syndrome],Guttmacher syndrome,[Preaxial deficiency-postaxial polydactyly-hypospadias syndrome],"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.",[176305],,,,,"Preaxial deficiency, postaxial polydactyly and hypospadias",TRUE,FALSE,Active +GARD:4472,Legacy,GARD,,,,,,,,,,,,Precocious epileptic encephalopathy,TRUE,FALSE,Retired +GARD:4473,Legacy,GARD,,,,,,,,,,,,Precocious myoclonic encephalopathy,TRUE,FALSE,Retired +GARD:4474,Legacy,GARD,,,,,,,,,,,,"Precocious puberty, gonadotropin-dependent",TRUE,FALSE,Active +GARD:4475,Active,Orphanet,ORPHA:3000,Disorder,[Disease],Familial male-limited precocious puberty,"[FMPP, Familial gonadotropin-independent male-limited sexual precocity, Male-limited precocious puberty, Testotoxicosis]","Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.",[176410],,,,,Testotoxicosis,TRUE,FALSE,Active +GARD:4476,Legacy,GARD,,,,,,,,,,,,Preeyasombat Varavithya syndrome,TRUE,FALSE,Retired +GARD:4477,Active,Orphanet,ORPHA:749,Disorder,[Disease],Congenital prekallikrein deficiency,,"A rare genetic coagulation disorder characterized by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported.",[612423],,,,,"Prekallikrein deficiency, congenital",TRUE,FALSE,Active +GARD:4478,Legacy,GARD,,,,,,,,,,,,Premature aging Okamoto type,TRUE,FALSE,Active +GARD:4479,Legacy,GARD,,,,,,,,,,,,"Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, an",TRUE,FALSE,Retired +GARD:448,Active,Orphanet,ORPHA:1493,Disorder,[Malformation syndrome],Vici syndrome,"[Corpus callosum agenesis-cataract-immunodeficiency syndrome, Dionisi-Vici-Sabetta-Gambarara syndrome]","Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.",[242840],,,,,Vici syndrome,TRUE,FALSE,Active +GARD:4480,Legacy,GARD,,,,,,,,,,,,FMR1-related primary ovarian insufficiency,TRUE,FALSE,Active +GARD:4482,Active,Orphanet,ORPHA:2958,Disorder,[Malformation syndrome],X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,[Prieto-Badia-Mulas syndrome],"An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.",[309610],,,,,X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,TRUE,FALSE,Active +GARD:4483,Active,Orphanet,ORPHA:79477,Subtype of disorder,[Clinical subtype],Griscelli syndrome type 2,"[Griscelli-Pruniéras syndrome type 2, Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome]","A rare subtype of Griscelli syndrome characterized by pigmentary dilution in skin and hair with irregular clumps of pigment in hair shafts resulting in silvery hair, in association with increased susceptibility to recurrent infections and immunological abnormalities, in particular impairment of T-cell and natural killer cytotoxic activity eventually leading to hemophagocytic lymphohistiocytosis. Patients may present neurological manifestations related to infiltration of the central nervous system in the context of the hemophagocytic syndrome. The disease is mostly fatal in the first decade of life.",[607624],,,,,Griscelli syndrome type 2,TRUE,FALSE,Active +GARD:4484,Active,Orphanet,ORPHA:244,Disorder,[Disease],Primary ciliary dyskinesia,[PCD],"A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).","[300991, 615500, 618063, 618695, 608647, 242680, 244400, 613193, 617577, 617091, 614935, 616481, 615067, 617092, 615444, 615872, 612649, 612650, 215518, 612274, 608644, 215520, 610852, 614017, 242670, 608646, 614679, 614874, 611884, 616726, 618781, 613808, 612444, 616037, 612518, 618449, 615451, 606763, 615481, 615482, 615504, 615505, 618801, 613807, 615294]",,,,,Primary ciliary dyskinesia,TRUE,FALSE,Active +GARD:4485,Active,Orphanet,ORPHA:247604,Disorder,[Disease],Juvenile primary lateral sclerosis,"[JPLS, Juvenile PLS]","A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.",[606353],,,,,Juvenile primary lateral sclerosis,TRUE,FALSE,Active +GARD:4486,Legacy,GARD,,,,,,,,,,,,Primary malignant lymphoma,TRUE,FALSE,Retired +GARD:4487,Legacy,GARD,,,,,,,,,,,,Primary tubular proximal acidosis,TRUE,FALSE,Active +GARD:4488,Active,Orphanet,ORPHA:3042,Disorder,[Malformation syndrome],Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,[Primrose syndrome],"Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.",[259050],,,,,Primrose syndrome,TRUE,FALSE,Active +GARD:4491,Legacy,GARD,,,,,,,,,,,,"Proconvertin deficiency, congenital",TRUE,FALSE,Retired +GARD:4494,Active,Orphanet,ORPHA:2959,Disorder,[Malformation syndrome],Progeria-short stature-pigmented nevi syndrome,[Mulvihill-Smith syndrome],"Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.",[176690],,,,,Progeroid short stature with pigmented nevi,TRUE,FALSE,Active +GARD:4495,Legacy,GARD,,,,,,,,,,,,Progeria variant syndrome Ruvalcaba type,TRUE,FALSE,Retired +GARD:4497,Active,Orphanet,ORPHA:2963,Disorder,[Malformation syndrome],"Progeroid syndrome, Petty type","[Fontaine progeroid syndrome, Petty syndrome, Petty-Laxova-Wiedemann syndrome]","Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.",[612289],,,,,Progeroid syndrome Petty type,TRUE,FALSE,Active +GARD:4498,Legacy,GARD,,,,,,,,,,,,"Progeroid syndrome, Penttinen type",TRUE,FALSE,Retired +GARD:45,Active,Orphanet,ORPHA:291,Disorder,[Disease],Congenital varicella syndrome,"[Antenatal varicella virus infection, Mother-to-child transmission of varicella syndrome]","A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.",,,,,,Congenital varicella syndrome,TRUE,FALSE,Active +GARD:4500,Active,Orphanet,ORPHA:39,Disorder,[Disease],Acromelanosis,,"A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life.",,,,,,Acromelanosis,TRUE,FALSE,Active +GARD:4501,Legacy,GARD,,,,,,,,,,,,Progressive black carbon hyperpigmentation of infancy,TRUE,FALSE,Retired +GARD:4503,Active,Orphanet,ORPHA:520820,Group of disorders,[Category],Progressive external ophthalmoplegia,,,,,,,,Chronic progressive external ophthalmoplegia,TRUE,FALSE,Active +GARD:4504,Active,Orphanet+OMIM,OMIM:304400,Subtype of disorder,[Etiological subtype],"Deafness, x-linked 2","[Deafness, conductive, with stapes fixation, deafness 3, conductive, with stapes fixation, nance deafness, deafness, mixed, with perilymphatic gusher, sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear, perilymphatic gusher-deafness syndrome]","DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by {11:de Kok et al., 1995} and {29:Song et al., 2010}).\n\nSee also choroideremia, deafness, and mental retardation ({303110}), a contiguous gene deletion syndrome involving the POU3F4 and CHM ({300390}) genes on Xq21; isolated choroideremia ({303100}) is caused by mutation in the CHM gene.",[304400],[90641],[Mitochondrial non-syndromic sensorineural deafness],[16792],,"Deafness, X-linked 2",TRUE,FALSE,Active +GARD:4505,Legacy,GARD,,,,,,,,,,,,"Progressive kinking of the hair, acquired",TRUE,FALSE,Active +GARD:4507,Active,Orphanet,ORPHA:99750,Subtype of disorder,[Clinical subtype],Atypical progressive supranuclear palsy syndrome,[Atypical PSP syndrome],"A form or progressive supranuclear palsy syndrome (PSP), a rare late-onset neurodegenerative disease, characterized by an underlying PSP-tau pathology, that does not conform to the classic presentation of PSP. The clinical phenotype is variable and comprises PSP with predominant Parkinsonism (PSP-P), PSP with progressive gait freezing (PSP-PGF), PSP with predominant corticobasal syndrome (PSP-CBS), PSP with predominant speech/language disorder (PSP-SL), PSP with predominant frontal presentation (PSP-F), PSP with predominant ocular motor dysfunction (PSP-OM), and PSP with predominant postural instability (PSP-PI).",[260540],,,,,Progressive supranuclear palsy atypical,TRUE,FALSE,Active +GARD:4508,Active,Orphanet,ORPHA:2965,Disorder,[Disease],Prolactinoma,"[Lactotroph adenoma, PRL-secreting pituitary adenoma, PRLoma, Pituitary lactotrophic adenoma, Prolactin-secreting pituitary adenoma]","A rare, usually benign, neoplasm of the anterior pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.",,,,,,Prolactinoma,TRUE,FALSE,Active +GARD:4509,Active,Orphanet,ORPHA:492,Disorder,[Disease],Proliferating trichilemmal cyst,,"A rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.",,,,,,Proliferating trichilemmal cyst,TRUE,FALSE,Active +GARD:4513,Active,Orphanet,ORPHA:2966,Disorder,[Disease],Properdin deficiency,,"Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.",[312060],,,,,Properdin deficiency,TRUE,FALSE,Active +GARD:4518,Active,Orphanet,ORPHA:1126,Disorder,[Malformation syndrome],Aprosencephaly cerebellar dysgenesis,,"A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.",[601374],,,,,Prosencephaly cerebellar dysgenesis,TRUE,FALSE,Retired +GARD:4520,Active,Orphanet,ORPHA:1331,Disorder,[Disease],Familial prostate cancer,,"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.","[610997, 603688, 609299, 611928, 611100, 601518, 602759, 611958, 300704, 608656, 614731, 611959, 609558, 608658, 610321, 300147, 611868, 611955, 176807]",,,,,Familial prostate cancer,TRUE,FALSE,Active +GARD:4521,Legacy,GARD,,,,,,,,,,,,Protein C deficiency,FALSE,FALSE,Active +GARD:4522,Active,Orphanet,ORPHA:2967,Disorder,[Disease],Transcobalamin I deficiency,"[Haptocorrin deficiency, TCI deficiency, Transcobalamin-1 deficiency]","A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.",[193090],,,,,Protein R deficiency,TRUE,FALSE,Retired +GARD:4524,Legacy,GARD,,,,,,,,,,,,Protein S deficiency,TRUE,FALSE,Active +GARD:4525,Legacy,GARD,,,,,,,,,,,,Proteus like syndrome mental retardation eye defect,TRUE,FALSE,Retired +GARD:4527,Active,Orphanet,ORPHA:79278,Disorder,[Disease],Autosomal erythropoietic protoporphyria,[EPP],"Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.",[177000],,,,,Autosomal erythropoietic protoporphyria,TRUE,FALSE,Active +GARD:4528,Active,Orphanet,ORPHA:2508,Disorder,[Malformation syndrome],Corpus callosum agenesis-abnormal genitalia syndrome,"[ACC-abnormal genitalia syndrome, Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome, Proud syndrome, Proud-Levine-Carpenter syndrome]","Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.",[300004],,,,,Proud syndrome,TRUE,FALSE,Active +GARD:453,Active,Orphanet,ORPHA:90301,Disorder,[Disease],Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,,"This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.",[200170],,,,,Acanthosis nigricans muscle cramps acral enlargement,TRUE,FALSE,Active +GARD:4531,Active,Orphanet,ORPHA:70,Disorder,[Disease],Proximal spinal muscular atrophy,[SMA],Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.,"[253400, 253550, 271150, 253300]",,,,,Proximal spinal muscular atrophy,TRUE,FALSE,Active +GARD:4532,Legacy,GARD,,,,,,,,,,,,"Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA",TRUE,FALSE,Active +GARD:4536,Active,Orphanet,ORPHA:129,Disorder,[Disease],Pseudopelade of Brocq,,"Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.",,,,,,Pseudopelade of Brocq,TRUE,FALSE,Active +GARD:4538,Legacy,GARD,,,,,,,,,,,,Pseudo-Turner syndrome,TRUE,FALSE,Active +GARD:4539,Active,Orphanet,ORPHA:300,Disorder,[Disease],Bifunctional enzyme deficiency,,"A rare peroxisomal beta-oxidation disorder characterized by deficiency of peroxisomal D-bifunctional protein, type 1 being caused by deficiency of both dehydrogenase and hydratase activities of the enzyme, and types 2 and 3 by hydratase or dehydrogenase deficiency alone, while type 4 is due to compound heterozygous mutations affecting both units and represents a clinically milder phenotype. Types 1-3 are typically fatal in infancy. Patients present with early onset of generalized hypotonia, seizures, severe global developmental delay, craniofacial dysmorphism (large fontanel, high forehead, hypertelorism, epicanthal folds) and elevated plasma very long chain fatty acids. Variable features include hepatomegaly, polymicrogyria, and cerebral white matter abnormalities, among others.",[261515],,,,,D-bifunctional protein deficiency,TRUE,FALSE,Active +GARD:454,Active,Orphanet,ORPHA:674,Disorder,[Morphological anomaly],Accessory pancreas,,"A rare asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.",,,,,,Accessory pancreas,TRUE,FALSE,Active +GARD:4540,Active,Orphanet,ORPHA:750,Disorder,[Disease],Pseudoachondroplasia,"[Pseudoachondroplastic dysplasia, Pseudoachondroplastic spondyloepiphyseal dysplasia]",Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.,[177170],,,,,Pseudoachondroplasia,TRUE,FALSE,Active +GARD:4542,Legacy,GARD,,,,,,,,,,,,Pseudoachondroplastic dysplasia 2,TRUE,FALSE,Active +GARD:4543,Active,Orphanet,ORPHA:2971,Disorder,[Disease],Peroxisomal acyl-CoA oxidase deficiency,"[Pseudo-NALD, Pseudo-neonatal adrenoleukodystrophy, Pseudoadrenoleukodystrophy]",Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.,[264470],,,,,Pseudoneonatal adrenoleukodystrophy,TRUE,FALSE,Active +GARD:4544,Active,Orphanet,ORPHA:221120,Disorder,[Malformation syndrome],Pseudoaminopterin syndrome,"[ASSA, Aminopterin syndrome-like sine aminopterin]","Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.",[600325],,,,,Pseudoaminopterin syndrome,TRUE,FALSE,Active +GARD:4545,Legacy,GARD,,,,,,,,,,,,Pseudoarylsulfatase A deficiency,TRUE,FALSE,Retired +GARD:4547,Legacy,GARD,,,,,,,,,,,,Pseudohermaphrodism anorectal anomalies,TRUE,FALSE,Active +GARD:455,Active,Orphanet+OMIM,OMIM:200400,Subtype of disorder,[Disease subtype],"Achalasia, familial esophageal",,"Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (summary by {4:Farrokhi and Vaezi, 2007} and {6:Gockel et al., 2010}).",[200400],[930],[Idiopathic achalasia],[5708],,Familial esophageal achalasia,TRUE,FALSE,Retired +GARD:4550,Active,Orphanet,ORPHA:2983,Disorder,[Disease],Disorder of sex development-intellectual disability syndrome,[Verloes-Gillerot-Fryns syndrome],"A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.",[600122],,,,,"Male pseudohermaphroditism intellectual disability syndrome, Verloes type",TRUE,FALSE,Active +GARD:4552,Active,Orphanet,ORPHA:171876,Subtype of disorder,[Clinical subtype],Generalized pseudohypoaldosteronism type 1,"[Autosomal recessive PHA1, Autosomal recessive pseudohypoaldosteronism type 1, Generalized PHA1]","A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss.",[264350],,,,,Autosomal recessive pseudohypoaldosteronism type 1,TRUE,FALSE,Active +GARD:4553,Active,Orphanet,ORPHA:757,Disorder,[Disease],Pseudohypoaldosteronism type 2,"[Chloride shunt syndrome, Familial hyperkalemic hypertension, Gordon hyperkalemia-hypertension syndrome, Hyperkalemia-hypertension syndrome, Gordon type, Hypertensive hyperkalemia, Mineralocorticoid resistant hyperkalemia, PHA2, PHAII, Spitzer-Weinstein syndrome]","A rare genetic form of hypertension characterized by hyperkalemia, mild hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, with normal renal glomerular filtration rate (GFR).","[614496, 614495, 145260, 614491, 614492]",,,,,Pseudohypoaldosteronism type 2,TRUE,FALSE,Active +GARD:4555,Legacy,GARD,,,,,,,,,,,,Pseudomarfanism,TRUE,FALSE,Retired +GARD:4556,Legacy,GARD,,,,,,,,,,,,Pseudomongolism,TRUE,FALSE,Retired +GARD:4559,Active,Orphanet,ORPHA:2980,Disorder,[Malformation syndrome],Acrootoocular syndrome,[Pseudopapilledema-blepharophimosis-hand anomalies syndrome],"A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.",[264475],,,,,Pseudopapilledema blepharophimosis hand anomalies,TRUE,FALSE,Active +GARD:456,Active,Orphanet,ORPHA:929,Disorder,[Malformation syndrome],Achalasia-microcephaly syndrome,,"An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.",[200450],,,,,Achalasia microcephaly syndrome,TRUE,FALSE,Active +GARD:4561,Active,Orphanet,ORPHA:238624,Disorder,[Disease],Idiopathic intracranial hypertension,"[Benign intracranial hypertension, IIH, Pseudotumor cerebri]","Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.",[243200],,,,,Idiopathic intracranial hypertension,TRUE,FALSE,Active +GARD:4563,Legacy,GARD,,,,,,,,,,,,"Pseudoxanthoma elasticum, dominant form",TRUE,FALSE,Retired +GARD:4564,Legacy,GARD,,,,,,,,,,,,"Pseudoxanthoma elasticum, recessive form",TRUE,FALSE,Retired +GARD:4566,Legacy,GARD,,,,,,,,,,,,Pterygium Colli,TRUE,FALSE,Retired +GARD:4568,Active,Orphanet,ORPHA:2988,Disorder,[Malformation syndrome],Pterygium colli-intellectual disability-digital anomalies syndrome,[Khalifa-Graham syndrome],"A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.",[600159],,,,,Pterygium colli mental retardation digital anomalies,TRUE,FALSE,Retired +GARD:4569,Active,Orphanet,ORPHA:2989,Disorder,[Morphological anomaly],Familial pterygium of the conjunctiva,,"A rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.",[178000],,,,,Pterygium of the conjunctiva and cornea,TRUE,FALSE,Active +GARD:457,Active,Orphanet,ORPHA:869,Disorder,[Disease],Triple A syndrome,"[2A syndrome, 3A syndrome, 4A syndrome, AAA syndrome, Achalasia-addisonianism-alacrima syndrome, Adrenal insufficiency-achalasia-alacrima syndrome, Allgrove syndrome, Double A syndrome, Quaternary A syndrome]","Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.","[615510, 231550]",,,,,Triple A syndrome,TRUE,FALSE,Active +GARD:4570,Active,Orphanet,ORPHA:2987,Disorder,[Malformation syndrome],Antecubital pterygium syndrome,,"A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation.",[178200],,,,,Antecubital pterygium,TRUE,FALSE,Active +GARD:4573,Active,Orphanet,ORPHA:79447,Disorder,[Malformation syndrome],X-linked lethal multiple pterygium syndrome,,"X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.",[312150],,,,,Multiple pterygium syndrome X-linked,TRUE,FALSE,Active +GARD:4574,Legacy,GARD,,,,,,,,,,,,Ptosis coloboma mental retardation,TRUE,FALSE,Retired +GARD:4576,Legacy,GARD,,,,,,,,,,,,Ptosis strabismus diastasis,TRUE,FALSE,Retired +GARD:4577,Active,Orphanet,ORPHA:2999,Disorder,[Malformation syndrome],Ptosis-strabismus-ectopic pupils syndrome,[McPherson-Hall syndrome],"A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.",[178330],,,,,Ptosis strabismus ectopic pupils,TRUE,FALSE,Active +GARD:458,Active,Orphanet,ORPHA:168555,Disorder,[Disease],"Spondylometaphyseal dysplasia, A4 type",,"Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.",[609052],,,,,Spondylometaphyseal dysplasia type A4,TRUE,FALSE,Active +GARD:4582,Active,Orphanet,ORPHA:264675,Disorder,[Disease],Hereditary pulmonary alveolar proteinosis,"[Congenital PAP, Congenital pulmonary alveolar proteinosis]","A rare, genetic, interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant, presenting a highly variable clinical presentation, ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive, granular eosinophilic material, enlarged foamy alveolar macrophages, and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent.","[614370, 300770]",,,,,Congenital pulmonary alveolar proteinosis,TRUE,FALSE,Active +GARD:4584,Active,Orphanet,ORPHA:2038,Disorder,[Morphological anomaly],Pulmonary arteriovenous malformation,[PAVM],An aberrant communication between one or more pulmonary arteries and one or more pulmonary veins leading to an anatomic intrapulmonary right-to-left shunt.,[265140],,,,,Pulmonary arterio-veinous fistula,TRUE,FALSE,Active +GARD:4585,Legacy,GARD,,,,,,,,,,,,Pulmonary artery agenesis,TRUE,FALSE,Active +GARD:4586,Active,Orphanet,ORPHA:99050,Disorder,[Morphological anomaly],Abnormal origin of right or left pulmonary artery from the aorta,"[Hemitruncus arteriosus, Pulmonary artery coming from the aorta]","A rare, congenital, heart malformation characterized by anomalous origin of one branch of the pulmonary arteries directly from the aorta and a normal origin of the other pulmonary artery from the main pulmonary artery coming from the right ventricular outflow tract. Patients present respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.",,,,,,Pulmonary artery coming from the aorta,TRUE,FALSE,Active +GARD:4587,Legacy,GARD,,,,,,,,,,,,Pulmonary artery familial dilatation,TRUE,FALSE,Active +GARD:4588,Active,Orphanet,ORPHA:1207,Disorder,[Morphological anomaly],Pulmonary atresia with ventricular septal defect,,"Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).",[178370],,,,,Pulmonary atresia with ventricular septal defect,TRUE,FALSE,Active +GARD:4589,Active,Orphanet,ORPHA:99084,Disorder,[Morphological anomaly],Peripheral pulmonary stenosis,"[Branch pulmonary artery stenosis, Pulmonary branch stenosis]","Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.",,,,,,Congenital pulmonary artery branch stenosis,TRUE,FALSE,Active +GARD:459,Active,Orphanet,ORPHA:93299,Subtype of disorder,[Clinical subtype],Achondrogenesis type 1A,"[Achondrogenesis, Houston-Harris type]","A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.",[200600],,,,,Achondrogenesis type 1A,TRUE,FALSE,Active +GARD:4592,Legacy,GARD,,,,,,,,,,,,"Pulmonary hypoplasia, familial primary",TRUE,FALSE,Active +GARD:4593,Active,Orphanet,ORPHA:3161,Disorder,[Malformation syndrome],Congenital pulmonary sequestration,[Congenital bronchopulmonary sequestration],"Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply. Intralobar pulmonary sequestration may be asymptomatic or may present with recurrent pulmonary infections, hemoptysis, chest pain, cough and is usually diagnosed in older children and adults. Extralobar pulmonary sequestration present with respiratory distress, cyanosis, difficulty feeding or infection, may be associated with other anomalies and is mostly diagnosed in neonates or infants.",,,,,,Pulmonary sequestration,TRUE,FALSE,Active +GARD:4594,Active,Orphanet,ORPHA:3192,Subtype of disorder,[Clinical subtype],Supravalvular pulmonary stenosis,,,,,,,,Pulmonary supravalvular stenosis,TRUE,FALSE,Active +GARD:4595,Legacy,GARD,,,,,,,,,,,,"Pulmonary surfactant protein B, deficiency of",TRUE,FALSE,Active +GARD:4596,Legacy,GARD,,,,,,,,,,,,Pulmonary valve stenosis,TRUE,FALSE,Active +GARD:4597,Active,Orphanet,ORPHA:982,Group of disorders,[Clinical group],Pulmonary valve agenesis,"[Absent pulmonary valve syndrome, Congenital absence of the pulmonary valve, PVA]","Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.",,,,,,Pulmonary valves agenesis,TRUE,FALSE,Active +GARD:4598,Active,Orphanet,ORPHA:3188,Disorder,[Morphological anomaly],Congenital pulmonary veins atresia or stenosis,,"A rare progressive and life-threatening anomaly of the great vessels characterized by narrowing and obstruction of one or more normally positioned pulmonary vein at their junction with the left atrium. Presentation is typically during early infancy with dyspnea, tachypnea, and repeated pulmonary infections. Eventually, when all pulmonary veins of one lung are affected, the disorder results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.",,,,,,Pulmonary vein stenosis,TRUE,FALSE,Active +GARD:4599,Active,Orphanet,ORPHA:3090,Group of disorders,[Clinical group],Congenital pulmonary venous return anomaly,[Congenital pulmonary venous connection anomaly],"A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous.",,,,,,Pulmonary venous return anomaly,TRUE,FALSE,Active +GARD:46,Legacy,GARD,,,,,,,,,,,,Corticobasal degeneration,TRUE,FALSE,Active +GARD:460,Active,Orphanet,ORPHA:93298,Subtype of disorder,[Clinical subtype],Achondrogenesis type 1B,"[Achondrogenesis, Parenti-Fraccaro type]","A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.",[600972],,,,,Achondrogenesis type 1B,TRUE,FALSE,Active +GARD:4600,Active,Orphanet,ORPHA:1208,Disorder,[Morphological anomaly],Pulmonary atresia-intact ventricular septum syndrome,,"A rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. It presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.",[265150],,,,,Pulmonary atresia with intact ventricular septum,TRUE,FALSE,Active +GARD:4603,Active,Orphanet,ORPHA:99710,Disorder,[Disease],Punctate acrokeratoderma freckle-like pigmentation,,A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. There have been no further descriptions in the literature since 1993.,,,,,,Punctate acrokeratoderma freckle like pigmentation,TRUE,FALSE,Retired +GARD:4606,Active,Orphanet,ORPHA:760,Disorder,[Disease],Purine nucleoside phosphorylase deficiency,"[PNP deficiency, PNPase deficiency]","A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.",[613179],,,,,Purine nucleoside phosphorylase deficiency,TRUE,FALSE,Active +GARD:4607,Active,Orphanet,ORPHA:93585,Subtype of disorder,[Clinical subtype],Immune-mediated thrombotic thrombocytopenic purpura,"[Acquired TTP, Acquired thrombotic thrombocytopenic purpura, Autoimmune thrombotic thrombocytopenic purpura, Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies, aTTP, iTTP]","A rare, non-hereditary thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.",,,,,,"Thrombotic thrombocytopenic purpura, acquired",TRUE,FALSE,Active +GARD:4610,Active,Orphanet,ORPHA:3003,Disorder,[Malformation syndrome],Pyknoachondrogenesis,[Camera syndrome],A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.,[265880],,,,,Pyknoachondrogenesis,TRUE,FALSE,Active +GARD:4611,Active,Orphanet,ORPHA:763,Disorder,[Disease],Pycnodysostosis,[Pyknodysostosis],"Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.",[265800],,,,,Pycnodysostosis,TRUE,FALSE,Active +GARD:4612,Active,Orphanet,ORPHA:3005,Disorder,[Disease],Pyle disease,"[Metaphyseal dysplasia, Pyle type]","A rare bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.",[265900],,,,,Pyle disease,TRUE,FALSE,Active +GARD:4614,Active,Orphanet,ORPHA:764,Disorder,[Disease],Pyomyositis,"[Myositis purulenta tropica, Myositis tropicans, PM, Suppurative myositis, Tropical pyomyositis]","Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.",,,,,,Pyomyositis,TRUE,FALSE,Active +GARD:4616,Legacy,GARD,,,,,,,,,,,,Pyridoxine deficiency,TRUE,FALSE,Active +GARD:4619,Legacy,GARD,,,,,,,,,,,,Pyropoikilocytosis hereditary,TRUE,FALSE,Active +GARD:4620,Active,Orphanet,ORPHA:79243,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase E1-alpha deficiency,"[PDHAD, Pyruvate decarboxylase deficiency, Pyruvate dehydrogenase complex E1 component subunit alpha deficiency]","A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.",[312170],,,,,Pyruvate decarboxylase deficiency,TRUE,FALSE,Active +GARD:4621,Legacy,GARD,,,,,,,,,,,,"Pyruvate kinase deficiency, liver type",TRUE,FALSE,Active +GARD:4622,Legacy,GARD,,,,,,,,,,,,"Pyruvate kinase deficiency, muscle type",TRUE,FALSE,Retired +GARD:4624,Legacy,GARD,,,,,,,,,,,,Radial defect Robin sequence,TRUE,FALSE,Active +GARD:4626,Legacy,GARD,,,,,,,,,,,,"Radial hypoplasia, triphalangeal thumbs and hypospadias",TRUE,FALSE,Retired +GARD:4627,Active,Orphanet,ORPHA:3026,Disorder,[Malformation syndrome],Radial ray hypoplasia-choanal atresia syndrome,[Goldblatt-Viljoen syndrome],"An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.",[179270],,,,,Radial ray hypoplasia choanal atresia,TRUE,FALSE,Active +GARD:4628,Active,Orphanet,ORPHA:2712,Disorder,[Malformation syndrome],Oculofaciocardiodental syndrome,"[Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome, OFCD syndrome]","Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.",[300166],,,,,Oculofaciocardiodental syndrome,TRUE,FALSE,Active +GARD:4629,Legacy,GARD,,,,,,,,,,,,Radio-digito-facial dysplasia,TRUE,FALSE,Retired +GARD:463,Legacy,GARD,,,,,,,,,,,,Achondroplasia and Swiss type agammaglobulinemia,TRUE,FALSE,Retired +GARD:4630,Legacy,GARD,,,,,,,,,,,,Radio-ulnar synostosis type 1,TRUE,FALSE,Active +GARD:4632,Legacy,GARD,,,,,,,,,,,,Radioulnar synostosis retinal pigment abnormalities,TRUE,FALSE,Retired +GARD:4633,Active,Orphanet,ORPHA:3016,Disorder,[Malformation syndrome],Absent radius-anogenital anomalies syndrome,,"A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.",[312190],,,,,Radius absent anogenital anomalies,TRUE,FALSE,Active +GARD:4634,Active,Orphanet,ORPHA:99843,Subtype of disorder,[Clinical subtype],Leukocyte adhesion deficiency type II,"[CDG syndrome type IIc, CDG-IIc, CDG2C, LAD-II, Rambam-Hasharon syndrome, SLC35C1-CDG]","Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.",[266265],,,,,SLC35C1-CDG (CDG-IIc),TRUE,FALSE,Active +GARD:4635,Active,Orphanet,ORPHA:3018,Disorder,[Malformation syndrome],Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,"[Rambaud-Gallian syndrome, Rambaud-Gallian-Touchard syndrome]","A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.",[277175],,,,,Vascular hyalinosis,TRUE,FALSE,Active +GARD:4636,Active,Orphanet,ORPHA:1051,Disorder,[Malformation syndrome],Ramos-Arroyo syndrome,"[Corneal anesthesia-deafness-intellectual disability syndrome, Corneal anesthesia-hearing loss-intellectual disability syndrome]","Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability.",[122430],,,,,Ramos Arroyo Clark syndrome,TRUE,FALSE,Active +GARD:4637,Active,Orphanet,ORPHA:3021,Disorder,[Malformation syndrome],RAPADILINO syndrome,,"A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.",[266280],,,,,Rapadilino syndrome,TRUE,FALSE,Active +GARD:4638,Active,Orphanet,ORPHA:3023,Disorder,[Malformation syndrome],External auditory canal atresia-vertical talus-hypertelorism syndrome,[Rasmussen-Johnsen-Thomsen syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.",[133705],,,,,Rasmussen Johnsen Thomsen syndrome,TRUE,FALSE,Active +GARD:4641,Active,Orphanet,ORPHA:2278,Disorder,[Malformation syndrome],Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,[Passwell-Goodman-Siprkowski syndrome],"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.",[242530],,,,,Ichthyosis-intellectual disability-dwarfism-renal impairment,TRUE,FALSE,Active +GARD:4644,Active,Orphanet,ORPHA:1188,Disorder,[Malformation syndrome],Ataxia-deafness-intellectual disability syndrome,"[Ataxia-hearing loss-intellectual disability syndrome, Reardon-Baraitser syndrome]","A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.",[208850],,,,,Reardon Wilson Cavanagh syndrome,TRUE,FALSE,Active +GARD:4645,Legacy,GARD,,,,,,,,,,,,Recurrent peripheral facial palsy,TRUE,FALSE,Active +GARD:4646,Legacy,GARD,,,,,,,,,,,,Reductional transverse limb defects,TRUE,FALSE,Retired +GARD:4647,Active,Orphanet,ORPHA:83452,Disorder,[Disease],Complex regional pain syndrome,,"Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.",[604335],,,,,Complex regional pain syndrome,TRUE,FALSE,Active +GARD:4648,Active,Orphanet,ORPHA:772,Disorder,[Disease],Infantile Refsum disease,"[IRD, Mild PBD-ZSD, Mild peroxisome biogenesis disorder-Zellweger spectrum disorder]","Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).","[614867, 614885, 601539, 266510, 614871, 617370, 614873, 202370, 614877, 614920, 614863]",,,,,"Refsum disease, infantile form",TRUE,FALSE,Active +GARD:4649,Legacy,GARD,,,,,,,,,,,,Reginato Shiapachasse syndrome,TRUE,FALSE,Retired +GARD:465,Active,Orphanet,ORPHA:33,Disorder,[Disease],Isovaleric acidemia,[Isovaleric acid CoA dehydrogenase deficiency],"A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives.",[243500],,,,,Isovaleric acidemia,TRUE,FALSE,Active +GARD:4651,Legacy,GARD,,,,,,,,,,,,Renal adysplasia dominant type,TRUE,FALSE,Retired +GARD:4654,Legacy,GARD,,,,,,,,,,,,Renal agenesis meningomyelocele mullerian defect,TRUE,FALSE,Retired +GARD:4655,Active,Orphanet,ORPHA:2838,Disorder,[Malformation syndrome],Renal caliceal diverticuli-deafness syndrome,[Renal caliceal diverticuli-hearing loss syndrome],"Renal caliceal diverticuli-deafness syndrome is a rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.",,,,,,Renal caliceal diverticuli deafness,TRUE,FALSE,Active +GARD:4656,Legacy,GARD,,,,,,,,,,,,"Renal carcinoma, familial",TRUE,FALSE,Retired +GARD:4657,Legacy,GARD,,,,,,,,,,,,Renal dysplasia diffuse autosomal recessive,TRUE,FALSE,Retired +GARD:4658,Legacy,GARD,,,,,,,,,,,,Renal dysplasia diffuse cystic,TRUE,FALSE,Active +GARD:4661,Legacy,GARD,,,,,,,,,,,,Renal dysplasia megalocystis sirenomelia,TRUE,FALSE,Retired +GARD:4664,Legacy,GARD,,,,,,,,,,,,Renal genital middle ear anomalies,TRUE,FALSE,Active +GARD:4665,Active,Orphanet,ORPHA:3032,Disorder,[Malformation syndrome],NPHP3-related Meckel-like syndrome,"[Goldston syndrome, Meckel syndrome type 7, Meckel-like syndrome type 1, Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome]","NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.",[267010],,,,,Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia,TRUE,FALSE,Active +GARD:4666,Active,Orphanet,ORPHA:402041,Subtype of disorder,[Clinical subtype],Autosomal recessive distal renal tubular acidosis,"[AR dRTA, Autosomal recessive distal RTA]",A rare autosomal dominant form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.,"[602722, 267300]",,,,,Renal tubular acidosis with deafness,TRUE,FALSE,Active +GARD:4667,Active,Orphanet,ORPHA:18,Disorder,[Disease],Distal renal tubular acidosis,"[Classic RTA, Familial distal primary acidosis, Renal tubular acidosis type 1, dRTA]","A rare genetic or acquired renal tubular disease characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis (dRTA) is often associated with hypokalemia, other forms with hypokalemia, hyperkalemia or normokalemia.","[602722, 611590, 179800, 267300]",,,,,Distal renal tubular acidosis,TRUE,FALSE,Active +GARD:4668,Active,Orphanet,ORPHA:93608,Subtype of disorder,[Clinical subtype],Autosomal dominant distal renal tubular acidosis,[AD dRTA],"A rare autosomal dominant form of distal renal tubular acidosis characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia, hypercalciuria, nephrolithiasis and nephrocalcinosis may also develop. Renal failure has not been described.",[179800],,,,,Autosomal dominant distal renal tubular acidosis,TRUE,FALSE,Active +GARD:4669,Legacy,GARD,,,,,,,,,,,,Autosomal recessive distal renal tubular acidosis,TRUE,FALSE,Active +GARD:467,Active,Orphanet,ORPHA:35,Disorder,[Disease],Propionic acidemia,"[Ketotic hyperglycinemia, Propionic aciduria, Propionyl-CoA carboxylase deficiency]","Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.",[606054],,,,,Propionic acidemia,TRUE,FALSE,Active +GARD:4670,Legacy,GARD,,,,,,,,,,,,"Renal tubular acidosis, distal, type 3",TRUE,FALSE,Active +GARD:4671,Legacy,GARD,,,,,,,,,,,,"Renal tubular acidosis, distal, type 4",TRUE,FALSE,Retired +GARD:4672,Legacy,GARD,,,,,,,,,,,,Renier Gabreels Jasper syndrome,TRUE,FALSE,Active +GARD:4673,Legacy,GARD,,,,,,,,,,,,Renoanogenital syndrome,TRUE,FALSE,Retired +GARD:4676,Legacy,GARD,,,,,,,,,,,,Multiple respiratory chain enzyme deficiencies,TRUE,FALSE,Retired +GARD:468,Legacy,GARD,,,,,,,,,,,,Acitretin embryopathy,TRUE,FALSE,Active +GARD:4680,Active,Orphanet,ORPHA:1852,Disorder,[Disease],X-linked retinal dysplasia,,"A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated.",[312550],,,,,Retinal dysplasia X-linked,TRUE,FALSE,Active +GARD:4681,Legacy,GARD,,,,,,,,,,,,Retinal telangiectasia hypogammaglobulinemia,TRUE,FALSE,Retired +GARD:4682,Legacy,GARD,,,,,,,,,,,,Retinis pigmentosa deafness hypogenitalism,TRUE,FALSE,Retired +GARD:4683,Active,Orphanet,ORPHA:3085,Disorder,[Malformation syndrome],Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,"[Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome, Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome]","A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.",[268020],,,,,Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,TRUE,FALSE,Active +GARD:4684,Active,Orphanet+OMIM,OMIM:500004,Subtype of disorder,[Clinical subtype],Retinitis pigmentosa-deafness syndrome,"[Retinitis pigmentosa 8, formerly, retinitis pigmentosa 21, formerly]",,[500004],[231183],[Usher syndrome type 3],[5442],,Retinitis pigmentosa-deafness syndrome,TRUE,FALSE,Retired +GARD:4685,Legacy,GARD,,,,,,,,,,,,Retinohepatoendocrinologic syndrome,TRUE,FALSE,Active +GARD:4686,Legacy,GARD,,,,,,,,,,,,Retinopathy anemia CNS anomalies,TRUE,FALSE,Retired +GARD:4687,Legacy,GARD,,,,,,,,,,,,Retinopathy aplastic anemia neurological abnormalities,TRUE,FALSE,Active +GARD:4688,Legacy,GARD,,,,,,,,,,,,Retinopathy pigmentary mental retardation,TRUE,FALSE,Retired +GARD:469,Active,Orphanet,ORPHA:2561,Disorder,[Malformation syndrome],Pyramidal molars-abnormal upper lip syndrome,[Ackerman fused molar roots syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.",[200970],,,,,Pyramidal molars-abnormal upper lip syndrome,TRUE,FALSE,Active +GARD:4690,Active,Orphanet,ORPHA:792,Disorder,[Malformation syndrome],X-linked retinoschisis,"[X-linked juvenile retinoschisis, XLRS]","A rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages.",[312700],,,,,Juvenile retinoschisis,TRUE,FALSE,Active +GARD:4694,Active,Orphanet,ORPHA:3095,Disorder,[Disease],Atypical Rett syndrome,"[Atypical RTT, Rett syndrome variant]","A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.","[617903, 312750, 617904, 613454, 300672]",,,,,Atypical Rett syndrome,TRUE,FALSE,Active +GARD:4695,Active,Orphanet,ORPHA:3088,Disorder,[Malformation syndrome],Revesz syndrome,"[Dyskeratosis congenita with bilateral exudative retinopathy, Retinopathy-anemia-central nervous system anomalies syndrome, Revesz-DeBuse syndrome]","Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.",[268130],,,,,Revesz syndrome,TRUE,FALSE,Active +GARD:4696,Legacy,GARD,,,,,,,,,,,,Reynolds Neri Hermann syndrome,TRUE,FALSE,Retired +GARD:4697,Active,Orphanet,ORPHA:779,Disorder,[Disease],Reynolds syndrome,[Primary biliary cirrhosis and systemic scleroderma],Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).,[613471],,,,,Reynolds syndrome,TRUE,FALSE,Active +GARD:47,Active,Orphanet,ORPHA:79234,Subtype of disorder,[Clinical subtype],Crigler-Najjar syndrome type 1,"[Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1, Bilirubin-UGT deficiency type 1]","A form of Crigler Najjar syndrome (CNS), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated, severe and permanent jaundice with a permanent risk of bilirubin encephalopathy.",[218800],,,,,"Crigler Najjar syndrome, type 1",TRUE,FALSE,Active +GARD:4701,Active,Orphanet,ORPHA:99756,Subtype of disorder,[Clinical subtype],Alveolar rhabdomyosarcoma,,,[268220],,,,,Rhabdomyosarcoma alveolar,TRUE,FALSE,Active +GARD:4702,Active,Orphanet,ORPHA:99757,Subtype of disorder,[Clinical subtype],Embryonal rhabdomyosarcoma,,,[268210],,,,,Rhabdomyosarcoma embryonal,TRUE,FALSE,Active +GARD:4703,Active,Orphanet,ORPHA:2831,Disorder,[Malformation syndrome],"Rhizomelic dysplasia, Patterson-Lowry type",,"Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.",[601438],,,,,Rhizomelic dysplasia Patterson Lowry type,TRUE,FALSE,Active +GARD:4704,Active,Orphanet,ORPHA:93569,Disorder,[Disease],Polymyalgia rheumatica,[Rhizomelic pseudopolyarthritis],"A rare rheumatologic disease characterized by bilateral morning stiffness which lasts > 45-60 min of duration associated with a subacute-onset of severe pain with active movements, typically affecting the shoulders, proximal upper limbs, neck and/or, less commonly, the pelvic girdle and proximal aspects of thighs, which are exacerbated with inactivity and improve progressively over the day. Muscle tenderness, peripheral synovitis, arthritis, carpal tunnel syndrome or distal tenosynovitis, as well as non-specific symptoms, such as fatigue, asthenia, malaise, low-grade fever, anorexia and weight loss, may be associated. Acute phase reactants (erythrocyte sedimentation rate, C-reactive protein) are increased.",,,,,,Rhizomelic pseudopolyarthritis,TRUE,FALSE,Active +GARD:4705,Active,Orphanet,ORPHA:3098,Disorder,[Malformation syndrome],"Rhizomelic syndrome, Urbach type",,"Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.",[268250],,,,,Rhizomelic syndrome,TRUE,FALSE,Active +GARD:4708,Legacy,GARD,,,,,,,,,,,,Richieri-Costa Colletto Otto syndrome,TRUE,FALSE,Retired +GARD:4709,Active,Orphanet,ORPHA:3101,Disorder,[Malformation syndrome],Richieri Costa-da Silva syndrome,[Myotonia-intellectual disability-skeletal anomalies syndrome],"Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.",[255710],,,,,Richieri Costa Da Silva syndrome,TRUE,FALSE,Active +GARD:4711,Legacy,GARD,,,,,,,,,,,,Richieri Costa Guion Almeida syndrome,TRUE,FALSE,Retired +GARD:4712,Legacy,GARD,,,,,,,,,,,,Richieri-Costa Guion-Almeida Cohen syndrome,TRUE,FALSE,Active +GARD:4717,Legacy,GARD,,,,,,,,,,,,Richieri Costa Orquizas syndrome,TRUE,FALSE,Retired +GARD:4718,Active,Orphanet,ORPHA:3102,Disorder,[Malformation syndrome],Richieri Costa-Pereira syndrome,"[Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome, Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome]","Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.",[268305],,,,,Richieri Costa Pereira syndrome,TRUE,FALSE,Active +GARD:4720,Legacy,GARD,,,,,,,,,,,,Right atrium familial dilatation,TRUE,FALSE,Active +GARD:4721,Active,Orphanet,ORPHA:439,Disorder,[Morphological anomaly],Isolated right ventricular hypoplasia,,"Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.",[277200],,,,,Right ventricle hypoplasia,TRUE,FALSE,Active +GARD:4722,Active,Orphanet,ORPHA:178303,Disorder,[Malformation syndrome],8q22.1 microdeletion syndrome,"[Monosomy 8q22.1, Nablus mask-like facial syndrome]",The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.,[608156],,,,,Nablus mask-like facial syndrome,TRUE,FALSE,Active +GARD:4723,Active,Orphanet,ORPHA:97244,Disorder,[Disease],Rigid spine syndrome,[Rigid spine congenital muscular dystrophy],"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.",[602771],,,,,Rigid spine syndrome,TRUE,FALSE,Active +GARD:4724,Active,Orphanet,ORPHA:1441,Disorder,[Malformation syndrome],Ring chromosome 17 syndrome,"[Ring 17, Ring chromosome 17]","Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.",,,,,,Ring chromosome 17,TRUE,FALSE,Active +GARD:4725,Legacy,GARD,,,,,,,,,,,,Ringed hair disease,TRUE,FALSE,Active +GARD:4729,Active,Orphanet,ORPHA:3104,Disorder,[Malformation syndrome],Robin sequence-oligodactyly syndrome,[Pierre Robin sequence-oligodactyly syndrome],"Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.",[172880],,,,,Robin sequence and oligodactyly,TRUE,FALSE,Active +GARD:4730,Active,Orphanet+OMIM,OMIM:180750,Subtype of disorder,[Malformation syndrome subtype],Robinow-sorauf syndrome,"[Craniosynostosis-bifid hallux syndrome, acrocephalosyndactyly, robinow-sorauf type]",,[180750],[794],[Saethre-Chotzen syndrome],[7598],,Robinow Sorauf syndrome,TRUE,FALSE,Retired +GARD:4732,Active,Orphanet,ORPHA:79499,Disorder,[Malformation syndrome],Autosomal dominant deafness-onychodystrophy syndrome,"[Autosomal dominant hearing loss-onychodystrophy syndrome, DDOD syndrome]","A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges.",[124480],,,,,Autosomal dominant deafness-onychodystrophy syndrome,TRUE,FALSE,Active +GARD:4733,Active,Orphanet,ORPHA:529,Disorder,[Disease],Roch-Leri mesosomatous lipomatosis,,"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.",,,,,,Roch-Leri mesosomatous lipomatosis,TRUE,FALSE,Active +GARD:4734,Legacy,GARD,,,,,,,,,,,,Rod myopathy,TRUE,FALSE,Retired +GARD:4735,Legacy,GARD,,,,,,,,,,,,Rodini Richieri Costa syndrome,TRUE,FALSE,Retired +GARD:4737,Active,Orphanet,ORPHA:247775,Subtype of disorder,[Clinical subtype],Mayer-Rokitansky-Küster-Hauser syndrome type 1,"[Congenital absence of uterus and vagina, MRKH syndrome type 1, Rokitansky sequence]","Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome (see this term), is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.",[277000],,,,,Rokitansky sequence,TRUE,FALSE,Active +GARD:4738,Active,Orphanet,ORPHA:3110,Disorder,[Disease],Rombo syndrome,,"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.",[180730],,,,,Rombo syndrome,TRUE,FALSE,Active +GARD:4739,Legacy,GARD,,,,,,,,,,,,Rommen Mueller Sybert syndrome,TRUE,FALSE,Active +GARD:4740,Active,Orphanet,ORPHA:1837,Disorder,[Disease],Ulna metaphyseal dysplasia syndrome,[Rosenberg-Lohr syndrome],"Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.",[191420],,,,,Ulna metaphyseal dysplasia syndrome,TRUE,FALSE,Active +GARD:4741,Active,Orphanet,ORPHA:3115,Disorder,[Disease],Roussy-Lévy syndrome,"[Hereditary areflexic dystasia, Roussy-Lévy type]","A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant.",[180800],,,,,Roussy Levy syndrome,TRUE,FALSE,Active +GARD:4742,Legacy,GARD,,,,,,,,,,,,Rubella,TRUE,FALSE,Active +GARD:4744,Active,Orphanet,ORPHA:290,Disorder,[Disease],Congenital rubella syndrome,"[CRS, Fetal rubella syndrome, Mother-to-child transmission of rubella syndrome]","An infectious embryofetopathy that may present in an infant as a result of maternal infection early in pregnancy and subsequent fetal infection with rubella virus. The disorder can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.",,,,,,Congenital rubella,TRUE,FALSE,Active +GARD:4745,Legacy,GARD,,,,,,,,,,,,Rubinstein Taybi like syndrome,TRUE,FALSE,Active +GARD:4747,Legacy,GARD,,,,,,,,,,,,Ruvalcaba Churesigaew Myhre syndrome,TRUE,FALSE,Active +GARD:4748,Active,Orphanet,ORPHA:3121,Disorder,[Malformation syndrome],Ruvalcaba syndrome,,"Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.",[180870],,,,,Ruvalcaba syndrome,TRUE,FALSE,Active +GARD:475,Active,Orphanet,ORPHA:26348,Disorder,[Disease],Acquired prothrombin deficiency,[Acquired hypoprothrombinemia],,,,,,,Acquired hypoprothrombinemia,TRUE,FALSE,Retired +GARD:4751,Legacy,GARD,,,,,,,,,,,,Sacral defect with anterior meningocele,TRUE,FALSE,Retired +GARD:4752,Active,Orphanet,ORPHA:2351,Disorder,[Malformation syndrome],Kousseff syndrome,[Sacral meningocele-conotruncal heart defects syndrome],"A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.",,,,,,Sacral meningocele conotruncal heart defects,TRUE,FALSE,Active +GARD:4754,Active,Orphanet,ORPHA:309334,Subtype of disorder,[Clinical subtype],Salla disease,,,[604369],,,,,Salla disease,TRUE,FALSE,Active +GARD:476,Active,Orphanet,ORPHA:454,Disorder,[Disease],Acquired ichthyosis,,"A rare epidermal disease characterized by rough, dry skin with prominent, plate-like scaling. It is non-hereditary and usually arises during adulthood in the context of a variety of diseases or conditions, like various types of cancer, autoimmune diseases, endocrine disorders, nutritional deficiencies, but also as a side effect of certain medications. Severity depends on the underlying disease or condition.",,,,,,"Ichthyosis, acquired",TRUE,FALSE,Active +GARD:4766,Legacy,GARD,,,,,,,,,,,,Childhood-Onset Schizophrenia,TRUE,FALSE,Active +GARD:4767,Active,Orphanet,ORPHA:252164,Disorder,[Disease],Benign schwannoma,"[Neurilemmoma, Neurilemoma, Peripheral fibroblastoma]","A rare benign peripheral nerve sheath tumor characterized by a usually encapsulated space-occupying lesion composed of differentiated neoplastic Schwann cells. It most commonly arises from peripheral nerves in the head and neck region and extensor aspects of the extremities, but also from spinal and cranial nerves, especially the vestibular nerve. The tumor may be asymptomatic or cause symptoms related to a mass effect. It grows slowly and only rarely undergoes malignant transformation.",,,,,,Schwannoma,TRUE,FALSE,Active +GARD:4768,Active,Orphanet,ORPHA:93921,Disorder,[Disease],Schwannomatosis,"[NF3, Neurilemmomatosis, Neurofibromatosis type 3]","A rare form of neurofibromatosis characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves, and often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.","[162260, 615670, 162091]",,,,,Schwannomatosis,TRUE,FALSE,Active +GARD:4769,Active,Orphanet,ORPHA:75840,Disorder,[Disease],"Congenital muscular dystrophy, Ullrich type","[Scleroatonic muscular dystrophy, UCMD, Ullrich disease]","Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.","[254090, 616470]",,,,,Ullrich congenital muscular dystrophy,TRUE,FALSE,Active +GARD:4770,Legacy,GARD,,,,,,,,,,,,Sclerosing bone dysplasia mental retardation,TRUE,FALSE,Retired +GARD:4771,Active,Orphanet,ORPHA:3152,Disorder,[Malformation syndrome],Sclerosteosis,[Cortical hyperostosis-syndactyly syndrome],"Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.","[614305, 269500]",,,,,Sclerosteosis,TRUE,FALSE,Active +GARD:4773,Legacy,GARD,,,,,,,,,,,,Scoliosis with unilateral unsegmented bar,TRUE,FALSE,Retired +GARD:4774,Active,Orphanet,ORPHA:832,Disorder,[Disease],Succinyl-CoA:3-oxoacid CoA transferase deficiency,"[OXCT1 deficiency, SCOT deficiency, Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA:3-ketoacid CoA transferase deficiency]","A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.",[245050],,,,,SCOT deficiency,TRUE,FALSE,Active +GARD:4775,Active,Orphanet,ORPHA:915,Disorder,[Malformation syndrome],Aarskog-Scott syndrome,"[Aarskog syndrome, Faciodigitogenital syndrome, Faciogenital dysplasia]","A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.","[100050, 305400]",,,,,Aarskog syndrome,TRUE,FALSE,Active +GARD:4776,Active,Orphanet,ORPHA:1514,Disorder,[Malformation syndrome],Craniodigital-intellectual disability syndrome,"[Scott craniodigital syndrome, Scott-Bryant-Graham syndrome]","Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.",,,,,,Scott Bryant Graham syndrome,TRUE,FALSE,Active +GARD:4777,Active,Orphanet,ORPHA:806,Disorder,[Disease],Scott syndrome,,Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.,[262890],,,,,Scott syndrome,TRUE,FALSE,Active +GARD:4778,Active,Orphanet,ORPHA:1778,Disorder,[Malformation syndrome],Facial dysmorphism-shawl scrotum-joint laxity syndrome,[Seaver-Cassidy syndrome],"Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.",,,,,,Seaver Cassidy syndrome,TRUE,FALSE,Active +GARD:478,Legacy,GARD,,,,,,,,,,,,Acral dysostosis dyserythropoiesis syndrome,TRUE,FALSE,Active +GARD:4780,Legacy,GARD,,,,,,,,,,,,Sebocystomatosis,TRUE,FALSE,Retired +GARD:4781,Legacy,GARD,,,,,,,,,,,,Seckel like syndrome Majoor-Krakauer type,TRUE,FALSE,Active +GARD:4787,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis type 5,TRUE,FALSE,Retired +GARD:4789,Legacy,GARD,,,,,,,,,,,,Seizures benign familial neonatal recessive form,TRUE,FALSE,Retired +GARD:4790,Legacy,GARD,,,,,,,,,,,,Seizures mental retardation hair dysplasia,TRUE,FALSE,Retired +GARD:4791,Legacy,GARD,,,,,,,,,,,,Selig Benacerraf Greene syndrome,TRUE,FALSE,Active +GARD:4792,Active,Orphanet,ORPHA:842,Disorder,[Disease],Testicular seminomatous germ cell tumor,"[Seminoma of testis, Seminomatous germ cell tumor of testis, Testicular seminoma]","Testicular seminomatous germ cell tumor is a rare testicular germ cell tumor (see this term), most commonly presenting with a painless mass in the scrotum, with a very high cure rate if caught in the early stages.",[273300],,,,,Testicular seminoma,TRUE,FALSE,Active +GARD:4793,Legacy,GARD,,,,,,,,,,,,Semmekrot Haraldsson Weemaes syndrome,TRUE,FALSE,Retired +GARD:4798,Legacy,GARD,,,,,,,,,,,,Sensory neuropathy type 1,TRUE,FALSE,Retired +GARD:48,Active,Orphanet,ORPHA:254905,Disorder,[Disease],Isolated cytochrome C oxidase deficiency,"[Isolated COX deficiency, Isolated mitochondrial respiratory chain complex IV deficiency]","A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy, and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver.","[619048, 619063, 220110, 619064, 619355, 619051, 619058, 619059, 619060, 619052, 619046, 619053, 619054, 619061, 619055, 619062]",,,,,Cytochrome c oxidase deficiency,TRUE,FALSE,Active +GARD:480,Active,Orphanet,ORPHA:958,Disorder,[Malformation syndrome],Acro-renal-mandibular syndrome,[Split hand/split foot-mandibular hypoplasia syndrome],"A very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.",[200980],,,,,Acrorenal mandibular syndrome,TRUE,FALSE,Active +GARD:4800,Legacy,GARD,,,,,,,,,,,,Senter syndrome,TRUE,FALSE,Retired +GARD:4801,Legacy,GARD,,,,,,,,,,,,Seow Najjar syndrome,TRUE,FALSE,Active +GARD:4804,Legacy,GARD,,,,,,,,,,,,Sequeiros Sack syndrome,TRUE,FALSE,Retired +GARD:4805,Legacy,GARD,,,,,,,,,,,,Seres-Santamaria Arimany Muniz syndrome,TRUE,FALSE,Active +GARD:4815,Active,Orphanet,ORPHA:29822,Disorder,[Disease],Spontaneous periodic hypothermia,"[Episodic spontaneous hypothermia, Shapiro syndrome]",A rare neurologic disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.,,,,,,Shapiro syndrome,TRUE,FALSE,Active +GARD:4817,Legacy,GARD,,,,,,,,,,,,Sharp syndrome,TRUE,FALSE,Retired +GARD:4818,Active,Orphanet,ORPHA:810,Disorder,[Disease],Shigellosis,,"Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts.",,,,,,Shigellosis,TRUE,FALSE,Active +GARD:4819,Legacy,GARD,,,,,,,,,,,,Shih Filkins syndrome,TRUE,FALSE,Retired +GARD:4821,Legacy,GARD,,,,,,,,,,,,Short broad great toe macrocranium,TRUE,FALSE,Retired +GARD:4822,Active,Orphanet,ORPHA:26792,Disorder,[Disease],Short chain acyl-CoA dehydrogenase deficiency,"[ACADS deficiency, SCAD deficiency, SCADD]","Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.",[201470],,,,,Short-chain acyl-CoA dehydrogenase deficiency,TRUE,FALSE,Active +GARD:4823,Legacy,GARD,,,,,,,,,,,,Short limb dwarf lethal Colavita Kozlowski type,TRUE,FALSE,Retired +GARD:4824,Legacy,GARD,,,,,,,,,,,,"Lethal short-limb dwarfism, McAlister-Crane type",TRUE,FALSE,Retired +GARD:4826,Legacy,GARD,,,,,,,,,,,,Short limb dwarf edema iris coloboma,TRUE,FALSE,Retired +GARD:4827,Legacy,GARD,,,,,,,,,,,,Lethal short limb skeletal dysplasia Al Gazali type,TRUE,FALSE,Active +GARD:4828,Legacy,GARD,,,,,,,,,,,,Short limbs abnormal face congenital heart disease,TRUE,FALSE,Retired +GARD:4829,Legacy,GARD,,,,,,,,,,,,Short limbs subluxed knees cleft palate,TRUE,FALSE,Retired +GARD:483,Legacy,GARD,,,,,,,,,,,,Acro coxo mesomelic dysplasia,TRUE,FALSE,Retired +GARD:4832,Active,Orphanet,ORPHA:93268,Disorder,[Malformation syndrome],"Short rib-polydactyly syndrome, Beemer-Langer type",[Short rib-polydactyly syndrome type 4],"A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others.",[269860],,,,,Short rib-polydactyly syndrome type 4,TRUE,FALSE,Active +GARD:4833,Active,Orphanet,ORPHA:93269,Disorder,[Malformation syndrome],"Short rib-polydactyly syndrome, Majewski type",[Short rib-polydactyly syndrome type 2],"A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period.","[263520, 613091]",,,,,"Short rib-polydactyly syndrome, Majewski type",TRUE,FALSE,Active +GARD:4834,Active,Orphanet,ORPHA:93270,Disorder,[Malformation syndrome],"Short rib-polydactyly syndrome, Saldino-Noonan type",[Short rib-polydactyly syndrome type 1],"A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age.",[613091],,,,,Short rib-polydactyly syndrome type 1,TRUE,FALSE,Active +GARD:4835,Active,Orphanet,ORPHA:93271,Disorder,[Malformation syndrome],"Short rib-polydactyly syndrome, Verma-Naumoff type",[Short rib-polydactyly syndrome type 3],"A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period.","[615633, 614091, 615503, 613091]",,,,,Short rib-polydactyly syndrome type 3,TRUE,FALSE,Active +GARD:4836,Legacy,GARD,,,,,,,,,,,,Short ribs craniosynostosis polysyndactyly,TRUE,FALSE,Retired +GARD:4837,Legacy,GARD,,,,,,,,,,,,Short stature abnormal skin pigmentation mental retardation,TRUE,FALSE,Retired +GARD:4838,Active,Orphanet,ORPHA:2867,Disorder,[Malformation syndrome],"Short stature, Brussels type",[Mievis-Verellen-Dumoulin syndrome],"A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996.",[601350],,,,,"Short stature syndrome, Brussels type",TRUE,FALSE,Active +GARD:4839,Legacy,GARD,,,,,,,,,,,,Short stature contractures hypotonia,TRUE,FALSE,Retired +GARD:484,Active,Orphanet,ORPHA:1784,Disorder,[Malformation syndrome],Acrofrontofacionasal dysostosis,[Richieri-Costa-Colletto syndrome],A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.,[201180],,,,,Acrofrontofacionasal dysostosis syndrome,TRUE,FALSE,Active +GARD:4840,Legacy,GARD,,,,,,,,,,,,Short stature cranial hyperostosis hepatomegaly,TRUE,FALSE,Retired +GARD:4841,Active,Orphanet,ORPHA:2866,Disorder,[Malformation syndrome],Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,"[Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome, Thong-Douglas-Ferrante syndrome]","A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.",,,,,,Short stature deafness neutrophil dysfunction,TRUE,FALSE,Active +GARD:4842,Legacy,GARD,,,,,,,,,,,,Short stature dysmorphic face pelvic scapula dysplasia,TRUE,FALSE,Retired +GARD:4845,Legacy,GARD,,,,,,,,,,,,Finger locking recurrent with intrauterine growth retardation and proportionate short stature,TRUE,FALSE,Retired +GARD:4846,Legacy,GARD,,,,,,,,,,,,Short stature mental retardation eye anomalies,TRUE,FALSE,Retired +GARD:4849,Legacy,GARD,,,,,,,,,,,,Short stature microcephaly seizures deafness,TRUE,FALSE,Retired +GARD:4850,Legacy,GARD,,,,,,,,,,,,Short stature monodactylous ectrodactyly cleft palate,TRUE,FALSE,Retired +GARD:4851,Legacy,GARD,,,,,,,,,,,,Short stature prognathism short femoral necks,TRUE,FALSE,Retired +GARD:4852,Legacy,GARD,,,,,,,,,,,,Short stature Robin sequence cleft mandible hand anomalies clubfoot,TRUE,FALSE,Retired +GARD:4853,Legacy,GARD,,,,,,,,,,,,Short stature talipes natal teeth,TRUE,FALSE,Retired +GARD:4854,Legacy,GARD,,,,,,,,,,,,Short stature valvular heart disease,TRUE,FALSE,Retired +GARD:4856,Active,Orphanet,ORPHA:2863,Disorder,[Malformation syndrome],Short stature-wormian bones-dextrocardia syndrome,[Stratton-Parker syndrome],"A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).",[185120],,,,,Short stature wormian bones dextrocardia,TRUE,FALSE,Active +GARD:4859,Legacy,GARD,,,,,,,,,,,,Shoulder and thorax deformity congenital heart disease,TRUE,FALSE,Retired +GARD:486,Legacy,GARD,,,,,,,,,,,,Acrocephalopolydactyly,TRUE,FALSE,Retired +GARD:4860,Legacy,GARD,,,,,,,,,,,,Shoulder girdle defect mental retardation familial,TRUE,FALSE,Retired +GARD:4861,Active,Orphanet,ORPHA:2462,Disorder,[Malformation syndrome],Shprintzen-Goldberg syndrome,"[Marfanoid craniosynostosis syndrome, SGS]","Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.",[182212],,,,,Shprintzen-Goldberg craniosynostosis syndrome,TRUE,FALSE,Active +GARD:4863,Active,Orphanet,ORPHA:811,Disorder,[Disease],Shwachman-Diamond syndrome,"[Pancreatic insufficiency and bone marrow dysfunction, SDS, Shwachman syndrome, Shwachman-Bodian-Diamond syndrome]","Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.","[617941, 260400]",,,,,Shwachman-Diamond syndrome,TRUE,FALSE,Active +GARD:4865,Active,Orphanet,ORPHA:3166,Disorder,[Disease],Sialuria,"[Sialuria, French type]","An extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.",[269921],,,,,"Sialuria, French type",TRUE,FALSE,Active +GARD:4867,Active,Orphanet,ORPHA:3167,Disorder,[Malformation syndrome],Siegler-Brewer-Carey syndrome,,"A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992.",,,,,,Siegler Brewer Carey syndrome,TRUE,FALSE,Active +GARD:4868,Legacy,GARD,,,,,,,,,,,,Silengo Lerone Pelizza syndrome,TRUE,FALSE,Active +GARD:4869,Active,Orphanet,ORPHA:3168,Disorder,[Malformation syndrome],Sillence syndrome,[Brachydactyly-symphalangism syndrome],"Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.",[113450],,,,,Sillence syndrome,TRUE,FALSE,Active +GARD:4870,Active,Orphanet,ORPHA:813,Disorder,[Disease],Silver-Russell syndrome,[Silver-Russell dwarfism],"Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.","[312780, 180860, 616489]",,,,,Russell-Silver syndrome,TRUE,FALSE,Active +GARD:4871,Legacy,GARD,,,,,,,,,,,,Silvery hair syndrome,TRUE,FALSE,Retired +GARD:4873,Active,Orphanet,ORPHA:1968,Disorder,[Malformation syndrome],Flat face-microstomia-ear anomaly syndrome,"[Blepharophimosis-telecanthus-microstomia syndrome, Simosa craniofacial syndrome, Simosa-Penchaszadeh-Bustos syndrome]","Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.",[182150],,,,,Simosa cranio facial syndrome,TRUE,FALSE,Active +GARD:4876,Legacy,GARD,,,,,,,,,,,,Singh Chhaparwal Dhanda syndrome,TRUE,FALSE,Active +GARD:4877,Active,Orphanet+OMIM,OMIM:147250,Subtype of disorder,[Malformation syndrome subtype],Solitary median maxillary central incisor,"[single central maxillary incisor, fused incisors, Incisors, fused, single upper central incisor]",,[147250],[280200],[Microform holoprosencephaly],[17290],,Single upper central incisor,TRUE,FALSE,Active +GARD:4878,Legacy,GARD,,,,,,,,,,,,Single ventricular heart,TRUE,FALSE,Active +GARD:4879,Active,Orphanet+OMIM,OMIM:140400,Subtype of disorder,[Disease subtype],"Progressive familial heart block, type ii",,"Progressive familial heart block type II (PFHB2) is an autosomal dominant disorder, similar to type I progressive familial heart block (PFHB1; see {113900}). The pattern of PFHB2, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes ({1:Brink and Torrington, 1977}).",[140400],[871],[Familial progressive cardiac conduction defect],[10005],,Progressive familial heart block type 2,TRUE,FALSE,Active +GARD:4880,Active,Orphanet+OMIM,OMIM:182190,Subtype of disorder,[Disease subtype],Sinus node disease and myopia,"[Sick sinus syndrome and myopia, sss-myopia syndrome]","See {163800} for a discussion of disturbance of the sinoatrial node, including the so-called sick sinus syndrome (SSS). {1:Onat (1986)} described SSS in father, daughter and son. The 2 elder affected persons had severe degenerative myopia. It was suggested that the youngest affected person, still under age 7 years, might develop this feature.",[182190],[166282],[Familial sick sinus syndrome],[13663],,Sinus node disease and myopia,TRUE,FALSE,Active +GARD:4881,Active,Orphanet,ORPHA:247698,Subtype of disorder,[Clinical subtype],Multiple endocrine neoplasia type 2A,"[MEN2A, PTC syndrome, Sipple syndrome]","A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B, before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and, less frequently, cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone.",[171400],,,,,Multiple endocrine neoplasia type 2A,TRUE,FALSE,Active +GARD:4883,Active,Orphanet,ORPHA:101063,Disorder,[Morphological anomaly],Situs inversus totalis,"[Complete situs inversus, Complete situs inversus viscerum, Situs inversus]","A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated.",,,,,,Situs inversus,TRUE,FALSE,Active +GARD:4885,Legacy,GARD,,,,,,,,,,,,Sjogren-Larsson-like syndrome,TRUE,FALSE,Active +GARD:4886,Active,Orphanet,ORPHA:2565,Disorder,[Malformation syndrome],Mononen-Karnes-Senac syndrome,[Skeletal dysplasia-brachydactyly syndrome],"Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.",[301940],,,,,Brachydactyly Mononen type,TRUE,FALSE,Active +GARD:4888,Legacy,GARD,,,,,,,,,,,,Skeletal dysplasia orofacial anomalies,TRUE,FALSE,Retired +GARD:4889,Legacy,GARD,,,,,,,,,,,,"Skeletal dysplasia, San Diego type",TRUE,FALSE,Active +GARD:4890,Legacy,GARD,,,,,,,,,,,,Skeleto cardiac syndrome with thrombocytopenia,TRUE,FALSE,Retired +GARD:4891,Active,Orphanet,ORPHA:83629,Disorder,[Disease],Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,"[H-SMD, Hypomyelination-spondyloepimetaphyseal dysplasia syndrome, Leukoencephalopathy-SEMD syndrome, Leukoencephalopathy-metaphyseal chondrodysplasia syndrome]","A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.",[300232],,,,,Leukoencephalopathy-spondylometaphyseal dysplasia syndrome,TRUE,FALSE,Active +GARD:4893,Legacy,GARD,,,,,,,,,,,,Slavotinek Pike Mills Hurst syndrome,TRUE,FALSE,Active +GARD:4894,Legacy,GARD,,,,,,,,,,,,Small non-cleaved cell lymphoma,TRUE,FALSE,Retired +GARD:4898,Active,Orphanet,ORPHA:3394,Group of disorders,[Clinical group],Soft tissue sarcoma,"[Malignant mesenchymal tumor, Malignant soft tissue tumor, Soft part sarcoma]",,,,,,,Soft tissue sarcoma,TRUE,FALSE,Active +GARD:4899,Active,Orphanet,ORPHA:2234,Disorder,[Malformation syndrome],Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,[Sohval-Soffer syndrome],"This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.",[307500],,,,,Sohval Soffer syndrome,TRUE,FALSE,Active +GARD:49,Active,Orphanet,ORPHA:2962,Disorder,[Disease],De Barsy syndrome,"[Cutis laxa-corneal clouding-intellectual disability syndrome, Progeroid syndrome, De Barsy type]","De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.","[219150, 614438]",,,,,De Barsy syndrome,TRUE,FALSE,Active +GARD:4900,Active,Orphanet,ORPHA:97283,Disorder,[Disease],Somatostatinoma,,"Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in approximately 20% of pancreatic cases, leads to a somatostatin hypersecretion syndrome (somatostatinoma syndrome) characterized by diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria.",,,,,,Somatostatinoma,TRUE,FALSE,Active +GARD:4905,Active,Orphanet,ORPHA:1355,Disorder,[Malformation syndrome],Congenital heart defect-round face-developmental delay syndrome,[Sonoda syndrome],"A very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.",[270460],,,,,Sonoda syndrome,TRUE,FALSE,Active +GARD:4906,Legacy,GARD,,,,,,,,,,,,Sosby syndrome,TRUE,FALSE,Retired +GARD:4907,Legacy,GARD,,,,,,,,,,,,Sparse hair ptosis mental retardation,TRUE,FALSE,Retired +GARD:4908,Legacy,GARD,,,,,,,,,,,,Congenital torticollis,TRUE,FALSE,Active +GARD:4909,Legacy,GARD,,,,,,,,,,,,Spastic angina with healthy coronary artery,TRUE,FALSE,Active +GARD:491,Active,Orphanet,ORPHA:2956,Disorder,[Malformation syndrome],Acrodysplasia scoliosis,"[Brachydactyly-scoliosis-carpal fusion syndrome, Prata-Liberal-Goncalves syndrome]","A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.",,,,,,Acrodysplasia scoliosis,TRUE,FALSE,Active +GARD:4910,Active,Orphanet,ORPHA:98,Disorder,[Disease],Autosomal recessive spastic ataxia of Charlevoix-Saguenay,"[ARSACS, Autosomal recessive spastic ataxia type 6, SPAX6]","Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.",[270550],,,,,Spastic ataxia Charlevoix-Saguenay type,TRUE,FALSE,Active +GARD:4911,Legacy,GARD,,,,,,,,,,,,Spastic diplegia infantile type,TRUE,FALSE,Active +GARD:4912,Legacy,GARD,,,,,,,,,,,,Spastic paraparesis,TRUE,FALSE,Active +GARD:4914,Active,Orphanet,ORPHA:293168,Disorder,[Disease],Infantile-onset ascending hereditary spastic paralysis,[IAHSP],"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.",[607225],,,,,Infantile-onset ascending hereditary spastic paralysis,TRUE,FALSE,Active +GARD:4915,Legacy,GARD,,,,,,,,,,,,Spastic paraplegia-epilepsy-intellectual disability syndrome,TRUE,FALSE,Active +GARD:4917,Legacy,GARD,,,,,,,,,,,,Spastic paraplegia 5B,TRUE,FALSE,Active +GARD:4918,Active,Orphanet,ORPHA:2826,Disorder,[Disease],Spastic paraplegia-precocious puberty syndrome,,Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.,[182820],,,,,Spastic paraplegia with precocious puberty,TRUE,FALSE,Active +GARD:4919,Active,Orphanet,ORPHA:2822,Disorder,[Disease],Autosomal recessive spastic paraplegia type 11,"[Nakamura-Osame syndrome, SPG11, Spastic paraplegia-intellectual disability-thin corpus callosum syndrome]","A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.",[604360],,,,,Spastic paraplegia 11,TRUE,FALSE,Active +GARD:4921,Active,Orphanet,ORPHA:2821,Disorder,[Disease],Spastic paraplegia-neuropathy-poikiloderma syndrome,[Antinolo-Nieto-Borrego syndrome],"A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.",[182815],,,,,Spastic paraplegia neuropathy poikiloderma,TRUE,FALSE,Active +GARD:4922,Active,Orphanet,ORPHA:209951,Disorder,[Disease],Autosomal recessive spastic paraplegia type 18,[SPG18],"Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.",[611225],,,,,Spastic paraplegia 18,TRUE,FALSE,Active +GARD:4923,Active,Orphanet,ORPHA:99015,Disorder,[Disease],Spastic paraplegia type 2,"[SPG2, Spastic gait type 2, Spastic paraparesis type 2, X-linked spastic paraplegia type 2]","A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.",[312920],,,,,Spastic paraplegia 2,TRUE,FALSE,Active +GARD:4924,Active,Orphanet,ORPHA:139480,Disorder,[Disease],Autosomal recessive spastic paraplegia type 39,"[SPG39, Spastic paraplegia due to NTE mutation, Spastic paraplegia due to neuropathy target esterase mutation]",A rare autosomal recessive spastic paraplegia characterized by progressive spastic paraplegia and distal muscle wasting.,[612020],,,,,Spastic paraplegia 39,TRUE,FALSE,Active +GARD:4925,Active,Orphanet,ORPHA:100985,Disorder,[Disease],Autosomal dominant spastic paraplegia type 4,[SPG4],"A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.",[182601],,,,,Spastic paraplegia 4,TRUE,FALSE,Active +GARD:4926,Active,Orphanet,ORPHA:100986,Disorder,[Disease],Autosomal recessive spastic paraplegia type 5A,[SPG5A],"Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.",[270800],,,,,Spastic paraplegia 5A,TRUE,FALSE,Active +GARD:4927,Active,Orphanet,ORPHA:99013,Disorder,[Disease],Spastic paraplegia type 7,[SPG7],"A form of hereditary spastic ataxia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia.",[607259],,,,,Spastic paraplegia 7,TRUE,FALSE,Active +GARD:4928,Active,Orphanet,ORPHA:100988,Disorder,[Disease],Autosomal dominant spastic paraplegia type 6,[SPG6],"A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.",[600363],,,,,Spastic paraplegia 6,TRUE,FALSE,Active +GARD:4931,Active,Orphanet,ORPHA:2818,Disorder,[Disease],Spastic paraplegia-glaucoma-intellectual disability syndrome,,"Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.",[270850],,,,,Spastic paraplegia-glaucoma-intellectual disability syndrome,TRUE,FALSE,Active +GARD:4932,Active,Orphanet,ORPHA:3011,Disorder,[Disease],Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,[Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome],"A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.",[270950],,,,,Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,TRUE,FALSE,Active +GARD:4933,Legacy,GARD,,,,,,,,,,,,Spasticity mental retardation,TRUE,FALSE,Retired +GARD:4936,Active,Orphanet,ORPHA:3449,Disorder,[Malformation syndrome],Weill-Marchesani syndrome,[Spherophakia-brachymorphia syndrome],"Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.","[614819, 608328, 277600]",,,,,Weill-Marchesani syndrome,TRUE,FALSE,Active +GARD:4938,Active,Orphanet,ORPHA:79264,Disorder,[Disease],Juvenile neuronal ceroid lipofuscinosis,"[Batten disease, JNCL, Juvenile NCL, Spielmeyer-Vogt disease]","Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.","[610127, 204200, 600143, 256730, 204500, 609055]",,,,,Spielmeyer-Vogt disease,TRUE,FALSE,Retired +GARD:494,Active,Orphanet,ORPHA:1786,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Catania type",[Opitz-Caltabiano syndrome],"A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males.",[101805],,,,,Acrofacial dysostosis Catania type,TRUE,FALSE,Active +GARD:4940,Active,Orphanet,ORPHA:3176,Disorder,[Malformation syndrome],Spina bifida-hypospadias syndrome,,"Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.",,,,,,Spina bifida hypospadias,TRUE,FALSE,Active +GARD:4942,Active,Orphanet,ORPHA:1217,Disorder,[Disease],Spinal atrophy-ophthalmoplegia-pyramidal syndrome,[Hamano-Tsukamoto syndrome],"Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.",,,,,,Spinal atrophy ophthalmoplegia pyramidal syndrome,TRUE,FALSE,Active +GARD:4943,Legacy,GARD,,,,,,,,,,,,Spinal dysostosis type Anhalt,TRUE,FALSE,Retired +GARD:4945,Active,Orphanet,ORPHA:83418,Subtype of disorder,[Clinical subtype],Proximal spinal muscular atrophy type 2,"[Intermediate spinal muscular atrophy, SMA type 2, SMA type II, SMA-II, SMA2]","A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset between 6 to 18 months of age with progressive, proximal muscle weakness, mild to moderate hypotonia and finger polymyoclonour tremor, with areflexia. Motor milestones are classically limited to independent sitting or standing.",[253550],,,,,Spinal muscular atrophy type 2,TRUE,FALSE,Active +GARD:4947,Active,Orphanet+OMIM,OMIM:616866,Subtype of disorder,[Disease subtype],Spinal muscular atrophy with congenital bone fractures 1,"[Spinal muscular atrophy, type i, with congenital bone fractures]","Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by {5:Knierim et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone Fractures\n\nSee also SMABF2 ({616867}), caused by mutation in the ASCC1 gene ({614215}) on chromosome 10q22.",[616866],[486811],[Prenatal-onset spinal muscular atrophy with congenital bone fractures],[17882],,Spinal muscular atrophy type 1 with congenital bone fractures,TRUE,FALSE,Active +GARD:4948,Legacy,GARD,,,,,,,,,,,,Spine rigid cardiomyopathy,TRUE,FALSE,Retired +GARD:4949,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia autosomal recessive 1,TRUE,FALSE,Retired +GARD:495,Legacy,GARD,,,,,,,,,,,,Acrofacial dysostosis Preis type,TRUE,FALSE,Active +GARD:4950,Active,Orphanet,ORPHA:211017,Disorder,[Disease],Spinocerebellar ataxia type 30,[SCA30],An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.,[613371],,,,,Spinocerebellar ataxia 30,TRUE,FALSE,Active +GARD:4952,Active,Orphanet,ORPHA:95434,Disorder,[Disease],Autosomal recessive cerebellar ataxia-movement disorder syndrome,"[SCAR4, SCASI]","A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.",[607317],,,,,Spinocerebellar ataxia autosomal recessive 4,TRUE,FALSE,Active +GARD:4953,Active,Orphanet,ORPHA:98766,Disorder,[Disease],Spinocerebellar ataxia type 5,[SCA5],An autosomal dominant cerebellar ataxia type III that is characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.,[600224],,,,,Spinocerebellar ataxia 5,TRUE,FALSE,Active +GARD:4954,Active,Orphanet,ORPHA:284332,Disorder,[Disease],Infantile-onset autosomal recessive nonprogressive cerebellar ataxia,"[Autosomal recessive spinocerebellar ataxia type 6, SCAR6]","A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.",[608029],,,,,Spinocerebellar ataxia autosomal recessive 6,TRUE,FALSE,Active +GARD:4955,Active,Orphanet,ORPHA:94147,Disorder,[Disease],Spinocerebellar ataxia type 7,"[Ataxia with pigmentary retinopathy, Cerebellar syndrome-pigmentary maculopathy syndrome, SCA7]","An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.",[164500],,,,,Spinocerebellar ataxia 7,TRUE,FALSE,Active +GARD:4956,Active,Orphanet,ORPHA:98760,Disorder,[Disease],Spinocerebellar ataxia type 8,[SCA8],Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.,[608768],,,,,Spinocerebellar ataxia 8,TRUE,FALSE,Active +GARD:4958,Active,Orphanet,ORPHA:1185,Disorder,[Disease],Spinocerebellar ataxia-dysmorphism syndrome,,"A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.",[271270],,,,,Spinocerebellar ataxia with dysmorphism,TRUE,FALSE,Active +GARD:496,Active,Orphanet,ORPHA:1788,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Rodríguez type",,"A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with olygodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.",[201170],,,,,Acrofacial dysostosis Rodriguez type,TRUE,FALSE,Active +GARD:4961,Legacy,GARD,,,,,,,,,,,,Spinocerebellar degenerescence book type,TRUE,FALSE,Retired +GARD:4963,Active,Orphanet,ORPHA:2063,Disorder,[Malformation syndrome],Splenogonadal fusion-limb defects-micrognathia syndrome,[SGFLD syndrome],"A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.",[183300],,,,,Splenogonadal fusion limb defects micrognatia,TRUE,FALSE,Active +GARD:4965,Legacy,GARD,,,,,,,,,,,,Split hand split foot malformation autosomal recessive,TRUE,FALSE,Active +GARD:4967,Active,Orphanet,ORPHA:2329,Disorder,[Malformation syndrome],Karsch-Neugebauer syndrome,[Split hand/split foot-nystagmus syndrome],"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.",[183800],,,,,Split hand split foot nystagmus,TRUE,FALSE,Active +GARD:4968,Legacy,GARD,,,,,,,,,,,,Split hand/foot malformation X-linked,TRUE,FALSE,Active +GARD:4969,Active,Orphanet,ORPHA:2437,Disorder,[Malformation syndrome],Czeizel-Losonci syndrome,"[Split hand with obstructive uropathy, spina bifida and diaphragmatic defects, Split hand-urinary anomalies-spina bifida syndrome]","Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.",[183802],,,,,Split hand urinary anomalies spina bifida,TRUE,FALSE,Active +GARD:497,Active,Orphanet,ORPHA:952,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Weyers type","[Curry-Hall syndrome, Weyers acrodental dysostosis, Weyers acrofacial dysostosis]","A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.",[193530],,,,,Weyers acrofacial dysostosis,TRUE,FALSE,Active +GARD:4970,Active,Orphanet,ORPHA:93357,Disorder,[Disease],SPONASTRIME dysplasia,"[Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia, Spondyloepimetaphyseal dysplasia, Sponastrime type]","A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.",[271510],,,,,Spondyloepimetaphyseal dysplasia Sponastrime type,TRUE,FALSE,Active +GARD:4971,Legacy,GARD,,,,,,,,,,,,Spondylarthropathy,TRUE,FALSE,Active +GARD:4972,Active,Orphanet,ORPHA:3180,Disorder,[Malformation syndrome],Spondylocamptodactyly syndrome,,"Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.",[600000],,,,,Spondylocamptodactyly,TRUE,FALSE,Active +GARD:4973,Active,Orphanet+OMIM,OMIM:609813,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 3, autosomal recessive",,,[609813],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 3,TRUE,FALSE,Active +GARD:4974,Active,Orphanet,ORPHA:3275,Disorder,[Malformation syndrome],Spondylocarpotarsal synostosis,[Synspondylism],"A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.",[272460],,,,,Spondylocarpotarsal synostosis syndrome,TRUE,FALSE,Active +GARD:4976,Active,Orphanet+OMIM,OMIM:613686,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 4, autosomal recessive",,,[613686],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 4,TRUE,FALSE,Active +GARD:4977,Active,Orphanet+OMIM,OMIM:271630,Subtype of disorder,[Malformation syndrome subtype],"Brachyolmia type 1, toledo type","[sed, chondroitin sulfate type, Spondyloepiphyseal dysplasia tarda, toledo type, paps-chondroitin sulfate sulfotransferase deficiency]","For a phenotypic description and discussion of heterogeneity of brachyolmia, see {271530}.",[271630],[448242],[Autosomal recessive brachyolmia],[13171],,Spondyloepiphyseal dysplasia tarda Toledo type,TRUE,FALSE,Retired +GARD:4978,Active,Orphanet,ORPHA:1855,Disorder,[Malformation syndrome],Spondyloenchondrodysplasia,"[SPENCD, Spondyloenchondromatosis, Spondylometaphyseal dysplasia with enchondromatous changes]","Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.",,,,,,Spondyloenchondrodysplasia with immune dysregulation,TRUE,FALSE,Active +GARD:4979,Active,Orphanet,ORPHA:93349,Disorder,[Disease],X-linked spondyloepimetaphyseal dysplasia,,"A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.",[300106],,,,,Spondyloepimetaphyseal dysplasia X-linked,TRUE,FALSE,Active +GARD:498,Active,Orphanet,ORPHA:245,Disorder,[Malformation syndrome],Nager syndrome,"[Mandibulofacial dysostosis with preaxial limb anomalies, NAFD, Nager acrofacial dysostosis, Preaxial acrodysostosis]","A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.",[154400],,,,,Nager acrofacial dysostosis,TRUE,FALSE,Active +GARD:4980,Active,Orphanet,ORPHA:93352,Disorder,[Disease],"Spondyloepimetaphyseal dysplasia, Shohat type","[SEMD, Shohat type]","Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.",[602557],,,,,Spondyloepimetaphyseal dysplasia Shohat type,TRUE,FALSE,Active +GARD:4982,Active,Orphanet,ORPHA:93359,Disorder,[Disease],Spondyloepimetaphyseal dysplasia with joint laxity,"[SEMD-JL, SEMDJL1, Spondyloepimetaphyseal dysplasia with joint laxity type 1, Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type]","A rare primary bone dysplasia characterized by short stature, joint laxity, vertebral anomalies, severe progressive spinal malalignment leading to spinal cord compression, progressive kyphoscoliosis, thoracic asymmetry, and elbow and foot deformities. Additional features include mild skin hyperelasticity, spatulate terminal phalanges, cleft palate and lip, structural cardiac malformations, and mild facial dysmorphism (oval face, prominent eyes with blue sclerae, and a long upper lip).","[271640, 618395]",,,,,Spondyloepimetaphyseal dysplasia joint laxity,TRUE,FALSE,Active +GARD:4984,Active,Orphanet,ORPHA:1830,Disorder,[Disease],Schimke immuno-osseous dysplasia,"[Schimke syndrome, Spondyloepiphyseal dysplasia-nephrotic syndrome]","A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy.",[242900],,,,,Schimke immunoosseous dysplasia,TRUE,FALSE,Active +GARD:4985,Active,Orphanet+OMIM,OMIM:313400,Subtype of disorder,[Disease subtype],"Spondyloepiphyseal dysplasia tarda, x-linked","[Sed tarda, x-linked, spondyloepiphyseal dysplasia, late]",,[313400],[93284],[Spondyloepiphyseal dysplasia tarda],[10624],,Spondyloepiphyseal dysplasia tarda X-linked,TRUE,FALSE,Active +GARD:4987,Active,Orphanet,ORPHA:94068,Disorder,[Disease],Spondyloepiphyseal dysplasia congenita,"[Congenital spondyloepiphyseal dysplasia, SEDC, Spranger-Wiedemann disease]","Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.",[183900],,,,,Spondyloepiphyseal dysplasia congenita,TRUE,FALSE,Active +GARD:4988,Legacy,GARD,,,,,,,,,,,,"Spondylohypoplasia, arthrogryposis and popliteal pterygium",TRUE,FALSE,Active +GARD:499,Active,Orphanet,ORPHA:1787,Disorder,[Malformation syndrome],"Acrofacial dysostosis, Palagonia type",,"A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.",[601829],,,,,Acrofacial dysostosis Palagonia type,TRUE,FALSE,Active +GARD:4991,Active,Orphanet,ORPHA:93315,Disorder,[Disease],"Spondylometaphyseal dysplasia, 'corner fracture' type","[Spondylometaphyseal dysplasia, Sutcliffe type]","Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).",[184255],,,,,Spondylometaphyseal dysplasia corner fracture type,TRUE,FALSE,Active +GARD:4992,Legacy,GARD,,,,,,,,,,,,Spondylometaphyseal dysplasia East-African type,TRUE,FALSE,Active +GARD:4993,Active,Orphanet,ORPHA:93317,Disorder,[Malformation syndrome],"Spondylometaphyseal dysplasia, Sedaghatian type",,"Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.",[250220],,,,,Spondylometaphyseal dysplasia Sedaghatian type,TRUE,FALSE,Active +GARD:4994,Active,Orphanet,ORPHA:1856,Disorder,[Disease],Spondyloperipheral dysplasia-short ulna syndrome,,"Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.",[271700],,,,,Spondyloperipheral dysplasia,TRUE,FALSE,Active +GARD:4997,Active,Orphanet,ORPHA:2903,Disorder,[Disease],Familial spontaneous pneumothorax,,"Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.",[173600],,,,,Primary spontaneous pneumothorax,TRUE,FALSE,Active +GARD:4998,Legacy,GARD,,,,,,,,,,,,Spotted fever,TRUE,FALSE,Active +GARD:4999,Legacy,GARD,,,,,,,,,,,,Spranger Schinzel Myers syndrome,TRUE,FALSE,Retired +GARD:5,Active,Orphanet,ORPHA:14,Disorder,[Disease],Abetalipoproteinemia,"[Bassen-Kornzweig disease, Homozygous familial hypobetalipoproteinemia]","A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.","[605019, 200100, 615558]",,,,,Abetalipoproteinemia,TRUE,FALSE,Active +GARD:500,Legacy,GARD,,,,,,,,,,,,"Acromegaloid changes, cutis verticis gyrata and corneal leukoma",TRUE,FALSE,Active +GARD:5000,Legacy,GARD,,,,,,,,,,,,Stalker Chitayat syndrome,TRUE,FALSE,Active +GARD:5001,Legacy,GARD,,,,,,,,,,,,Stampe sorensen syndrome,TRUE,FALSE,Retired +GARD:5003,Active,Orphanet,ORPHA:841,Disorder,[Disease],Sebocystomatosis,[Steatocystoma multiplex],"Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.",[184500],,,,,Steatocystoma multiplex,TRUE,FALSE,Active +GARD:5004,Active,Orphanet,ORPHA:3184,Disorder,[Malformation syndrome],Steatocystoma multiplex-natal teeth syndrome,,The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.,[184510],,,,,Steatocystoma multiplex with natal teeth,TRUE,FALSE,Active +GARD:501,Legacy,GARD,,,,,,,,,,,,Acromegaloid facial appearance syndrome,TRUE,FALSE,Active +GARD:5010,Legacy,GARD,,,,,,,,,,,,Sterility due to immotile flagella,TRUE,FALSE,Retired +GARD:5012,Active,Orphanet,ORPHA:2017,Disorder,[Morphological anomaly],Sternal cleft,"[Cleft sternum, Sternum bifidum]","A rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.",,,,,,Sternal cleft,TRUE,FALSE,Active +GARD:5013,Legacy,GARD,,,,,,,,,,,,Sternal cyst vascular anomalies,TRUE,FALSE,Retired +GARD:5014,Legacy,GARD,,,,,,,,,,,,Sternal malformation vascular dysplasia associatio,TRUE,FALSE,Retired +GARD:5015,Active,Orphanet,ORPHA:3196,Disorder,[Disease],Steroid dehydrogenase deficiency-dental anomalies syndrome,[Lyngstadaas syndrome],"A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.",,,,,,Steroid dehydrogenase deficiency dental anomalies,TRUE,FALSE,Active +GARD:5018,Active,Orphanet,ORPHA:90653,Subtype of disorder,[Clinical subtype],Stickler syndrome type 1,,,"[609508, 108300]",,,,,Stickler syndrome type 1,TRUE,FALSE,Retired +GARD:502,Legacy,GARD,,,,,,,,,,,,Acromegaloid hypertrichosis syndrome,TRUE,FALSE,Active +GARD:5020,Active,Orphanet,ORPHA:90654,Subtype of disorder,[Clinical subtype],Stickler syndrome type 2,,,[604841],,,,,"Stickler syndrome, type 2",TRUE,FALSE,Retired +GARD:5021,Active,Orphanet,ORPHA:166100,Disorder,[Malformation syndrome],Autosomal dominant otospondylomegaepiphyseal dysplasia,"[AD OSMED, Stickler syndrome type 3, Stickler syndrome, non-ocular type]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.",[184840],,,,,"Stickler syndrome, type 3",TRUE,FALSE,Retired +GARD:5023,Active,Orphanet,ORPHA:3198,Disorder,[Disease],Stiff person spectrum disorder,"[Moersch-Woltman syndrome, SMS, SPS, Stiff man syndrome]","A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.",[184850],,,,,Stiff person syndrome,TRUE,FALSE,Active +GARD:5025,Active,Orphanet,ORPHA:2833,Disorder,[Disease],Stiff skin syndrome,,"Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.","[184900, 228020]",,,,,Stiff skin syndrome,TRUE,FALSE,Active +GARD:5026,Active,Orphanet,ORPHA:3199,Disorder,[Malformation syndrome],Stimmler syndrome,,"Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.",[202900],,,,,"Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus",TRUE,FALSE,Active +GARD:5027,Active,Orphanet,ORPHA:2972,Disorder,[Malformation syndrome],Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,[Stoelinga-de Koomen-Davis syndrome],"Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.",[273050],,,,,Stoelinga de Koomen Davis syndrome,TRUE,FALSE,Retired +GARD:5029,Active,Orphanet,ORPHA:3200,Disorder,[Malformation syndrome],Arthrogryposis-ectodermal dysplasia syndrome,[Stoll-Alembik-Finck syndrome],"A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.",[601701],,,,,Stoll Alembik Finck syndrome,TRUE,FALSE,Active +GARD:5032,Legacy,GARD,,,,,,,,,,,,Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia,TRUE,FALSE,Retired +GARD:5033,Legacy,GARD,,,,,,,,,,,,Familial stomach cancer,TRUE,FALSE,Retired +GARD:5034,Active,Orphanet,ORPHA:734,Disorder,[Disease],Alpha delta granule deficiency,"[Alpha dense granule deficiency, Combined alpha-delta platelet storage pool deficiency]","A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia.",[185050],,,,,Platelet storage pool deficiency,TRUE,FALSE,Active +GARD:5035,Legacy,GARD,,,,,,,,,,,,Storm syndrome,TRUE,FALSE,Active +GARD:5036,Active,Orphanet,ORPHA:1277,Disorder,[Malformation syndrome],Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,[Stratton-Garcia-Young syndrome],"Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).",,,,,,Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,TRUE,FALSE,Active +GARD:504,Active,Orphanet,ORPHA:93316,Disorder,[Disease],"Spondylometaphyseal dysplasia, Schmidt type","[Spondylometaphyseal dysplasia with severe genu valgum, Spondylometaphyseal dysplasia, Algerian type]","Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.",[184253],,,,,Spondylometaphyseal dysplasia Algerian type,TRUE,FALSE,Active +GARD:5040,Active,Orphanet,ORPHA:1576,Group of disorders,[Clinical group],Infantile bilateral striatal necrosis,"[IBSN, Infantile striatonigral degeneration, Infantile striatonigral necrosis]","Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms).","[271930, 500003]",,,,,Striatonigral degeneration infantile,TRUE,FALSE,Active +GARD:5041,Active,Orphanet,ORPHA:100984,Disorder,[Disease],Autosomal dominant spastic paraplegia type 3,[Strümpell disease],"A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures.",[182600],,,,,Spastic paraplegia 3,TRUE,FALSE,Active +GARD:5045,Active,Orphanet,ORPHA:3206,Disorder,[Malformation syndrome],Stüve-Wiedemann syndrome,"[Neonatal Schwartz-Jampel syndrome, SJS2, Schwartz-Jampel syndrome type 2, Stüve-Wiedemann dysplasia]","Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.",[601559],,,,,Stuve-Wiedemann syndrome,TRUE,FALSE,Active +GARD:5049,Active,Orphanet,ORPHA:102009,Group of disorders,[Clinical group],Classic lissencephaly,[Lissencephaly type 1],,,,,,,Lissencephaly 1,TRUE,FALSE,Active +GARD:505,Legacy,GARD,,,,,,,,,,,,Acromesomelic dysplasia Campailla Martinelli type,TRUE,FALSE,Active +GARD:5050,Active,Orphanet,ORPHA:101030,Subtype of disorder,[Clinical subtype],Subependymal nodular heterotopia,,,,,,,,Subependymal nodular heterotopia,TRUE,FALSE,Active +GARD:5051,Active,Orphanet,ORPHA:3190,Subtype of disorder,[Clinical subtype],Subpulmonary stenosis,,,,,,,,Subpulmonary stenosis,TRUE,FALSE,Active +GARD:5052,Legacy,GARD,,,,,,,,,,,,Subvalvular aortic stenosis,TRUE,FALSE,Active +GARD:5053,Active,Orphanet,ORPHA:3208,Disorder,[Disease],Isolated succinate-CoQ reductase deficiency,"[Isolated mitochondrial respiratory chain complex II deficiency, Isolated succinate dehydrogenase deficiency, Isolated succinate-coenzyme Q reductase deficiency, Isolated succinate-ubiquinone reductase deficiency]","A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity.","[252011, 619166, 619224, 619167]",,,,,Mitochondrial complex II deficiency,TRUE,FALSE,Active +GARD:5054,Legacy,GARD,,,,,,,,,,,,Succinic acidemia,TRUE,FALSE,Retired +GARD:5055,Legacy,GARD,,,,,,,,,,,,Succinic acidemia lactic acidosis congenital,TRUE,FALSE,Retired +GARD:5058,Active,Orphanet,ORPHA:498602,Disorder,[Morphological anomaly],Sugarman brachydactyly,[Sugarman-Hager-Kulik syndrome],"Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.",[272150],,,,,Sugarman brachydactyly,TRUE,FALSE,Active +GARD:506,Active,Orphanet,ORPHA:968,Disorder,[Malformation syndrome],"Acromesomelic dysplasia, Hunter-Thompson type",[Acromesomelic dwarfism],"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.",[201250],,,,,Acromesomelic dysplasia Hunter Thompson type,TRUE,FALSE,Active +GARD:5061,Active,Orphanet,ORPHA:585,Disorder,[Disease],Multiple sulfatase deficiency,"[Juvenile sulfatidosis, Austin type, MSD, Mucosulfatidosis]","Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.",[272200],,,,,Multiple sulfatase deficiency,TRUE,FALSE,Active +GARD:5062,Active,Orphanet,ORPHA:99731,Subtype of disorder,[Clinical subtype],Isolated sulfite oxidase deficiency,"[ISOD, Sulfocysteinuria]",,[272300],,,,,Sulfite oxidase deficiency,TRUE,FALSE,Active +GARD:5066,Active,Orphanet,ORPHA:85275,Disorder,[Malformation syndrome],Microphthalmia-ankyloblepharon-intellectual disability syndrome,"[MCOPS4, Syndromic microphthalmia type 4]","Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.",,,,,,Microphthalmia syndromic 4,TRUE,FALSE,Active +GARD:5068,Active,Orphanet,ORPHA:242,Disorder,[Malformation syndrome],"46,XY complete gonadal dysgenesis","[46,XY CGD, 46,XY pure gonadal dysgenesis, Swyer syndrome]","A rare disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.","[300018, 612965, 400044, 233420, 616425, 154230, 613080, 613762]",,,,,Swyer syndrome,TRUE,FALSE,Active +GARD:5069,Legacy,GARD,,,,,,,,,,,,Palmoplantar keratoderma of Sybert,TRUE,FALSE,Retired +GARD:507,Active,Orphanet,ORPHA:40,Disorder,[Malformation syndrome],"Acromesomelic dysplasia, Maroteaux type",,"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .",[602875],,,,,Acromesomelic dysplasia Maroteaux type,TRUE,FALSE,Active +GARD:5070,Active,Orphanet,ORPHA:1314,Disorder,[Disease],Symmetrical thalamic calcifications,[Bilateral symmetrical thalamic gliosis],"Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.",,,,,,Symmetrical thalamic calcifications,TRUE,FALSE,Active +GARD:5072,Legacy,GARD,,,,,,,,,,,,Symphalangism brachydactyly craniosynostosis,TRUE,FALSE,Retired +GARD:5074,Active,Orphanet,ORPHA:3248,Disorder,[Morphological anomaly],Distal symphalangism,,Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.,[185700],,,,,Symphalangism distal,TRUE,FALSE,Active +GARD:5075,Legacy,GARD,,,,,,,,,,,,Symphalangism familial proximal,FALSE,FALSE,Retired +GARD:5076,Legacy,GARD,,,,,,,,,,,,Symphalangism short stature accessory testis,TRUE,FALSE,Retired +GARD:5077,Active,Orphanet,ORPHA:3246,Disorder,[Malformation syndrome],Symphalangism with multiple anomalies of hands and feet,[Learman syndrome],"Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.",[185750],,,,,Symphalangism with multiple anomalies of hands and feet,TRUE,FALSE,Active +GARD:5078,Legacy,GARD,,,,,,,,,,,,Syncamptodactyly scoliosis,TRUE,FALSE,Retired +GARD:508,Active,Orphanet,ORPHA:955,Disorder,[Malformation syndrome],Hajdu-Cheney syndrome,"[Acroosteolysis dominant type, Acroosteolysis with osteoporosis and changes in skull and mandible, Arthrodentoosteodysplasia, Cheney syndrome]","A rare autosomal dominant skeletal disorder, characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities.","[102400, 102500]",,,,,Acroosteolysis dominant type,TRUE,FALSE,Active +GARD:5081,Active,Orphanet,ORPHA:93402,Disorder,[Morphological anomaly],Syndactyly type 1,,"A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges.","[185900, 609815]",,,,,Syndactyly type 1,TRUE,FALSE,Active +GARD:5083,Legacy,GARD,,,,,,,,,,,,Syndactyly cataract mental retardation,TRUE,FALSE,Retired +GARD:5084,Active,Orphanet,ORPHA:3258,Disorder,[Malformation syndrome],Cenani-Lenz syndrome,"[Cenani syndactyly, Cenani-Lenz syndactyly, Syndactyly type 7]",Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.,[212780],,,,,Syndactyly Cenani Lenz type,TRUE,FALSE,Active +GARD:5085,Legacy,GARD,,,,,,,,,,,,Syndactyly ectodermal dysplasia cleft lip palate hand foot,TRUE,FALSE,Active +GARD:5087,Active,Orphanet,ORPHA:93403,Disorder,[Morphological anomaly],Syndactyly type 2,[Synpolydactyly],"A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly.","[610234, 608180, 186000]",,,,,Syndactyly type 2,TRUE,FALSE,Active +GARD:5088,Active,Orphanet,ORPHA:93404,Disorder,[Morphological anomaly],Syndactyly type 3,"[SD3, Syndactyly of fingers 4 and 5]","A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected.",[186100],,,,,Syndactyly type 3,TRUE,FALSE,Active +GARD:5089,Active,Orphanet,ORPHA:93406,Disorder,[Morphological anomaly],Syndactyly type 5,"[Postaxial syndactyly with metacarpal synostosis, SD5]","A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported.",[186300],,,,,Syndactyly type 5,TRUE,FALSE,Active +GARD:5090,Active,Orphanet,ORPHA:3259,Disorder,[Malformation syndrome],Syndactyly-polydactyly-ear lobe syndrome,,"A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.",[186350],,,,,Syndactyly-polydactyly-earlobe syndrome,TRUE,FALSE,Active +GARD:5091,Active,Orphanet,ORPHA:3263,Disorder,[Malformation syndrome],Syngnathia-cleft palate syndrome,,,,,,,,Syngnathia cleft palate,TRUE,FALSE,Active +GARD:5092,Active,Orphanet,ORPHA:3262,Disorder,[Malformation syndrome],Dobrow syndrome,[Syngnathia-multiple anomalies syndrome],"Dobrow syndrome is a rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.",,,,,,Syngnathia multiple anomalies,TRUE,FALSE,Active +GARD:5094,Legacy,GARD,,,,,,,,,,,,Synostosis of talus and calcaneus short stature,TRUE,FALSE,Active +GARD:5100,Active,Orphanet,ORPHA:840,Disorder,[Disease],Syringocystadenoma papilliferum,"[Fistulous vegetative verrucous hydradenoma, Naevus syringocystadenomatosus papilliferus, Papillary syringocystadenoma, SCAP, Syringadenoma papilliferum]","A rare non-malignant adnexal neoplasm that originates from the apocrine or eccrine sweat glands and is characterized histologically by cystic, papillary, and ductal invaginations into the dermis lined by double-layered outer cuboidal and luminal high columnar epithelium and connected to the epidermis. Dilated capillaries and a dense infiltrate of plasma cells are characteristic. Clinically, lesions are asymptomatic with a heterogeneous, non-distinctive appearance ranging from skin-colored to pink papules or plaques, occurring most commonly in the head and neck area.",,,,,,Syringocystadenoma papilliferum,TRUE,FALSE,Active +GARD:5101,Legacy,GARD,,,,,,,,,,,,Syringomas natal teeth oligodontia,TRUE,FALSE,Retired +GARD:5102,Legacy,GARD,,,,,,,,,,,,Syringomelia hyperkeratosis,TRUE,FALSE,Retired +GARD:5104,Active,Orphanet,ORPHA:158,Disorder,[Disease],Systemic primary carnitine deficiency,"[CDSP, CUD, Carnitine transporter defect, Carnitine uptake deficiency, Deficiency of plasma-membrane carnitine transporter, SPCD]","A disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.",[212140],,,,,Primary carnitine deficiency,TRUE,FALSE,Active +GARD:5106,Legacy,GARD,,,,,,,,,,,,Systemic necrotizing angitis,TRUE,FALSE,Active +GARD:5107,Legacy,GARD,,,,,,,,,,,,T cell immunodeficiency primary,TRUE,FALSE,Active +GARD:5108,Legacy,GARD,,,,,,,,,,,,T-cell lymphoma 1A,TRUE,FALSE,Active +GARD:5109,Legacy,GARD,,,,,,,,,,,,Berk-Tabatznik syndrome,TRUE,FALSE,Active +GARD:511,Legacy,GARD,,,,,,,,,,,,Acro-pectoro-renal field defect,TRUE,FALSE,Active +GARD:5112,Legacy,GARD,,,,,,,,,,,,Talipes equinovarus,FALSE,FALSE,Active +GARD:5114,Legacy,GARD,,,,,,,,,,,,Tang Hsi Ryu syndrome,TRUE,FALSE,Active +GARD:5116,Active,Orphanet,ORPHA:3320,Disorder,[Malformation syndrome],Thrombocytopenia-absent radius syndrome,[TAR syndrome],Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.,[274000],,,,,TAR syndrome,TRUE,FALSE,Active +GARD:5117,Legacy,GARD,,,,,,,,,,,,TAU syndrome,TRUE,FALSE,Active +GARD:5118,Legacy,GARD,,,,,,,,,,,,"Taurodontia, absent teeth, sparse hair syndrome",TRUE,FALSE,Active +GARD:5119,Legacy,GARD,,,,,,,,,,,,Taurodontism,TRUE,FALSE,Active +GARD:512,Active,Orphanet,ORPHA:957,Disorder,[Malformation syndrome],Acropectorovertebral dysplasia,[F syndrome],"A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).",[102510],,,,,Acropectorovertebral dysplasia F form,TRUE,FALSE,Active +GARD:5120,Active,Orphanet,ORPHA:2636,Disorder,[Malformation syndrome],Microcephalic osteodysplastic primordial dwarfism types I and III,"[MOPD types I and III, Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type, Primordial microcephalic dwarfism, Crachami type, Taybi-Linder syndrome]","A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies.","[210730, 210710]",,,,,Microcephalic osteodysplastic primordial dwarfism type 1,TRUE,FALSE,Active +GARD:5121,Active,Orphanet,ORPHA:90650,Disorder,[Malformation syndrome],Otopalatodigital syndrome type 1,"[OPD I syndrome, OPD syndrome 1, Taybi syndrome]","A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.",[311300],,,,,Oto-palato-digital syndrome type 1,TRUE,FALSE,Active +GARD:5123,Active,Orphanet,ORPHA:1094,Disorder,[Malformation syndrome],Anonychia-microcephaly syndrome,[Teebi-Kaurah syndrome],"A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.",[607214],,,,,Teebi Kaurah syndrome,TRUE,FALSE,Retired +GARD:5124,Active,Orphanet,ORPHA:1974,Disorder,[Malformation syndrome],Autosomal recessive faciodigitogenital syndrome,"[Aarskog-like syndrome, Facio-digito-genital syndrome, Kuwait type, Teebi-Naguib-Alawadi syndrome]","A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.",[227330],,,,,Teebi Naguib Al Awadi syndrome,TRUE,FALSE,Retired +GARD:5125,Active,Orphanet,ORPHA:3291,Disorder,[Malformation syndrome],Teebi-Shaltout syndrome,,"Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.",[272950],,,,,Teebi Shaltout syndrome,TRUE,FALSE,Active +GARD:5126,Active,Orphanet,ORPHA:3368,Disorder,[Malformation syndrome],Trigonocephaly-bifid nose-acral anomalies syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.",[275595],,,,,"Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet",TRUE,FALSE,Active +GARD:5127,Legacy,GARD,,,,,,,,,,,,Teeth noneruption of with maxillary hypoplasia and genu valgum,TRUE,FALSE,Retired +GARD:5128,Active,Orphanet,ORPHA:3292,Disorder,[Malformation syndrome],Tel Hashomer camptodactyly syndrome,[Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome],"Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.",[211960],,,,,Tel Hashomer camptodactyly syndrome,TRUE,FALSE,Active +GARD:5133,Active,Orphanet,ORPHA:2885,Disorder,[Malformation syndrome],Piebald trait-neurologic defects syndrome,[Telfer-Sugar-Jaeger syndrome],"Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.",[172850],,,,,Telfer Sugar Jaeger syndrome,TRUE,FALSE,Active +GARD:5135,Active,Orphanet,ORPHA:98819,Disorder,[Disease],Familial temporal lobe epilepsy,,"A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.","[608096, 611631]",,,,,"Temporal epilepsy, familial",TRUE,FALSE,Active +GARD:5136,Legacy,GARD,,,,,,,,,,,,Temporomandibular ankylosis,TRUE,FALSE,Active +GARD:5138,Active,Orphanet,ORPHA:137834,Disorder,[Disease],Frank-Ter Haar syndrome,[Ter Haar syndrome],"A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.",[249420],,,,,Frank Ter Haar syndrome,TRUE,FALSE,Active +GARD:514,Active,Orphanet,ORPHA:971,Disorder,[Malformation syndrome],Acrorenal syndrome,,"A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.","[201310, 102520]",,,,,Acrorenal syndrome recessive,TRUE,FALSE,Active +GARD:5140,Active,Orphanet,ORPHA:180226,Disorder,[Disease],Embryonal carcinoma,,,,,,,,Embryonal carcinoma,TRUE,FALSE,Active +GARD:5144,Active,Orphanet,ORPHA:3299,Disorder,[Disease],Tetanus,,"A toxin-mediated infection due to the anaerobic bacteria Clostridium tetani and characterized by spasms and contractions of the skeletal muscles, the disease is often lethal.",,,,,,Tetanus,TRUE,FALSE,Active +GARD:5146,Legacy,GARD,,,,,,,,,,,,Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities,TRUE,FALSE,Retired +GARD:5147,Legacy,GARD,,,,,,,,,,,,Tetraamelia with pulmonary hypoplasia,TRUE,FALSE,Active +GARD:5148,Active,Orphanet,ORPHA:294971,Disorder,[Morphological anomaly],Tetra-amelia,[Total amelia],"A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.",,,,,,Tetra-amelia syndrome,TRUE,FALSE,Active +GARD:5151,Active,Orphanet,ORPHA:3305,Disorder,[Malformation syndrome],Tetraploidy,,"Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine growth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.",,,,,,Tetraploidy,TRUE,FALSE,Active +GARD:5153,Active,Orphanet,ORPHA:3306,Disorder,[Malformation syndrome],Inverted duplicated chromosome 15 syndrome,"[Duplication/inversion 15q11, Inv dup (15) syndrome, Isodicentric chromosome 15 syndrome, Non-distal tetrasomy 15q, Non-telomeric tetrasomy 15q, idic (15) syndrome]","A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.",,,,,,Isodicentric chromosome 15 syndrome,TRUE,FALSE,Active +GARD:5158,Active,Orphanet,ORPHA:1780,Disorder,[Malformation syndrome],Thakker-Donnai syndrome,[Dysmorphism-multiple structural anomalies syndrome],"Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991.",[227255],,,,,Thakker-Donnai syndrome,TRUE,FALSE,Active +GARD:5159,Legacy,GARD,,,,,,,,,,,,Thalamic degeneration symmetrical infantile,TRUE,FALSE,Retired +GARD:5160,Legacy,GARD,,,,,,,,,,,,"Thalamic degeneration, symmetric infantile",TRUE,FALSE,Retired +GARD:5161,Legacy,GARD,,,,,,,,,,,,Central pain syndrome,TRUE,FALSE,Active +GARD:5165,Legacy,GARD,,,,,,,,,,,,Thanatophoric dysplasia Glasgow variant,TRUE,FALSE,Retired +GARD:5167,Legacy,GARD,,,,,,,,,,,,Theodor Hertz Goodman syndrome,TRUE,FALSE,Active +GARD:5168,Legacy,GARD,,,,,,,,,,,,Coccygodynia,TRUE,FALSE,Active +GARD:517,Legacy,GARD,,,,,,,,,,,,Fetal retinoid syndrome,TRUE,FALSE,Active +GARD:5170,Active,Orphanet,ORPHA:3235,Disorder,[Malformation syndrome],Progressive deafness with stapes fixation,"[Progressive hearing loss with stapes fixation, Stapedo-vestibular ankylosis, Thies-Reis syndrome]","Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).",[601449],,,,,Progressive deafness with stapes fixation,TRUE,FALSE,Active +GARD:5172,Legacy,GARD,,,,,,,,,,,,Thiolase deficiency,TRUE,FALSE,Retired +GARD:5173,Legacy,GARD,,,,,,,,,,,,Thiopurine S methyltranferase deficiency,TRUE,FALSE,Active +GARD:5175,Active,Orphanet,ORPHA:3316,Disorder,[Malformation syndrome],Thomas syndrome,[Potter sequence-cleft lip/palate-cardiopathy syndrome],"Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.",,,,,,Thomas syndrome,TRUE,FALSE,Active +GARD:5176,Active,Orphanet,ORPHA:852,Subtype of disorder,[Etiological subtype],X-linked thrombocytopenia with normal platelets,,,[313900],,,,,X-linked thrombocytopenia,TRUE,FALSE,Active +GARD:5177,Active,Orphanet,ORPHA:2031,Disorder,[Malformation syndrome],Hepatic fibrosis-renal cysts-intellectual disability syndrome,[Thompson-Baraitser syndrome],"Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.",[213010],,,,,Thompson Baraitser syndrome,TRUE,FALSE,Retired +GARD:5179,Legacy,GARD,,,,,,,,,,,,Thoracic celosomia,TRUE,FALSE,Retired +GARD:518,Legacy,GARD,,,,,,,,,,,,Acute articular rheumatism,TRUE,FALSE,Active +GARD:5180,Active,Orphanet,ORPHA:1861,Disorder,[Malformation syndrome],Thoracic dysplasia-hydrocephalus syndrome,,"Thoracic dysplasia-hydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.",[273730],,,,,Thoracic dysplasia hydrocephalus syndrome,TRUE,FALSE,Active +GARD:5181,Active,Orphanet,ORPHA:1759,Disorder,[Malformation syndrome],Thoraco-abdominal enteric duplication,,"Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.",,,,,,Thoraco abdominal enteric duplication,TRUE,FALSE,Active +GARD:5182,Legacy,GARD,,,,,,,,,,,,Thoraco limb dysplasia Rivera type,TRUE,FALSE,Retired +GARD:5184,Active,Orphanet,ORPHA:3317,Disorder,[Malformation syndrome],Thoracolaryngopelvic dysplasia,[Barnes syndrome],"Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.","[187770, 187760]",,,,,Thoracolaryngopelvic dysplasia,TRUE,FALSE,Active +GARD:5185,Legacy,GARD,,,,,,,,,,,,Thoracopelvic dysostosis,TRUE,FALSE,Active +GARD:5186,Active,Orphanet,ORPHA:530838,Disorder,[Disease],KRT1-related diffuse nonepidermolytic keratoderma,[KRT1-related diffuse NEPPK],"A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.",[600962],,,,,Unna-Thost palmoplantar keratoderma,TRUE,FALSE,Active +GARD:5188,Active,Orphanet,ORPHA:3204,Disorder,[Disease],Stormorken-Sjaastad-Langslet syndrome,"[Stormorken syndrome, Thrombocytopathy-asplenia-miosis syndrome]","Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.",[185070],,,,,Thrombocytopathy asplenia miosis,TRUE,FALSE,Active +GARD:519,Active,Orphanet,ORPHA:724,Disorder,[Disease],Idiopathic acute eosinophilic pneumonia,[IAEP],"Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.",,,,,,Idiopathic acute eosinophilic pneumonia,TRUE,FALSE,Active +GARD:5190,Legacy,GARD,,,,,,,,,,,,Thrombocytopenia cerebellar hypoplasia short stature,TRUE,FALSE,Retired +GARD:5191,Active,Orphanet+OMIM,OMIM:188000,Subtype of disorder,[Etiological subtype],Thrombocytopenia 2,"[Thrombocytopenia, autosomal dominant, 2]","Thrombocytopenia-2 (THC2) is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by {19:Pippucci et al., 2011}).\n\nFor a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.",[188000],[168629],[Autosomal thrombocytopenia with normal platelets],[17041],,Thrombocytopenia 2,TRUE,FALSE,Active +GARD:5193,Legacy,GARD,,,,,,,,,,,,Thrombocytopenia Robin sequence,TRUE,FALSE,Active +GARD:5194,Active,Orphanet,ORPHA:3002,Disorder,[Disease],Immune thrombocytopenia,"[ITP, Immune thrombocytopenic purpura]","A rare autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.",[188030],,,,,Idiopathic thrombocytopenic purpura,TRUE,FALSE,Active +GARD:5195,Active,Orphanet,ORPHA:3324,Disorder,[Disease],Familial thrombomodulin anomalies,,"Familial thrombomodulin anomalies is a rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.",,,,,,"Thrombomodulin anomalies, familial",TRUE,FALSE,Active +GARD:5198,Legacy,GARD,,,,,,,,,,,,Thumb absent short stature immune deficiency,TRUE,FALSE,Retired +GARD:5199,Active,Orphanet,ORPHA:2251,Disorder,[Malformation syndrome],Thumb deformity-alopecia-pigmentation anomaly syndrome,[Sparse hair-short stature-skin anomalies syndrome],"Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.",[188150],,,,,"Thumb deformity, alopecia, pigmentation anomaly",TRUE,FALSE,Active +GARD:520,Legacy,GARD,,,,,,,,,,,,Acute erythroblastic leukemia,TRUE,FALSE,Retired +GARD:5200,Legacy,GARD,,,,,,,,,,,,Thumb stiffness-brachydactyly-intellectual disability syndrome,TRUE,FALSE,Active +GARD:5201,Active,Orphanet,ORPHA:3398,Group of disorders,[Category],Thymic epithelial neoplasm,"[TEN, Thymic epithelial tumor]","Thymic epithelial neoplasms (TEN) are rare malignancies arising from the epithelium of the thymic gland. They comprise three sub-types: thymoma, thymic carcinoma, and thymic neuroendocrine carcinoma (see these terms).",,,,,,Thymic epithelial tumor,TRUE,FALSE,Active +GARD:5202,Active,Orphanet,ORPHA:3326,Disorder,[Malformation syndrome],Thymic-renal-anal-lung dysplasia,,"This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.",[274265],,,,,Thymic-Renal-Anal-Lung dysplasia,TRUE,FALSE,Active +GARD:5203,Legacy,GARD,,,,,,,,,,,,Thyrocerebral-retinal syndrome,TRUE,FALSE,Active +GARD:5204,Active,Orphanet,ORPHA:93953,Disorder,[Morphological anomaly],Familial thyroglossal duct cyst,,A very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.,[188455],,,,,Familial thyroglossal duct cyst,TRUE,FALSE,Active +GARD:5206,Active,Orphanet+OMIM,OMIM:188470,Subtype of disorder,[Disease subtype],"Thyroid cancer, nonmedullary, 2",,"Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; {155240}). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell ({607464}), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, {175100}, Carney complex, {160980}) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by {3:Vriens et al., 2009}).\n\nFollicular thyroid cancer (FTC) accounts for approximately 15% of NMTC and is defined by invasive features that result in infiltration of blood vessels and/or full penetration of the tumor capsule, in the absence of the nuclear alterations that characterize papillary carcinoma. FTC is rarely multifocal and usually does not metastasize to the regional lymph nodes but tends to spread via the bloodstream to the lung and bones. An important histologic variant of FTC is the oncocytic (Hurthle cell, oxyphilic) follicular carcinoma composed of eosinophilic cells replete with mitochondria (summary by {1:Bonora et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550}).",[188470],[319487],[Familial papillary or follicular thyroid carcinoma],[8488],,"Thyroid cancer, follicular",TRUE,FALSE,Active +GARD:521,Active,Orphanet,ORPHA:3243,Disorder,[Disease],Sweet syndrome,[Acute febrile neutrophilic dermatosis],"A rare inflammatory disease characterized by abrupt appearance of painful, edematous and erythematous papules, plaques and nodules on the skin, and frequently accompanied by fever and neutrophilia with a dense infiltration of mature neutrophils that are typically located in the upper dermis. The disease is classically associated with inflammatory disease, pregnancy, infection (mostly of the upper respiratory tract), or vaccination but may be idiopathic, associated with a hematological or visceral malignancy, or drug-induced.",[608068],,,,,Acute febrile neutrophilic dermatosis,TRUE,FALSE,Active +GARD:5210,Active,Orphanet,ORPHA:3328,Disorder,[Malformation syndrome],Absent tibia-polydactyly-arachnoid cyst syndrome,[Holmes-Collins syndrome],"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.",[601027],,,,,Tibia absent polydactyly arachnoid cyst,TRUE,FALSE,Active +GARD:5211,Legacy,GARD,,,,,,,,,,,,Tibiae bowed radial anomalies osteopenia fracture,TRUE,FALSE,Retired +GARD:5213,Legacy,GARD,,,,,,,,,,,,Tibial aplasia ectrodactyly hydrocephalus,TRUE,FALSE,Retired +GARD:5214,Legacy,GARD,,,,,,,,,,,,Tibial hemimelia cleft lip palate,TRUE,FALSE,Retired +GARD:5216,Active,Orphanet,ORPHA:297,Disorder,[Disease],Tick-borne encephalitis,[TBE],"Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.",,,,,,Tick-borne encephalitis,TRUE,FALSE,Active +GARD:5218,Legacy,GARD,,,,,,,,,,,,Tollner Horst Manzke syndrome,TRUE,FALSE,Active +GARD:522,Active,Orphanet,ORPHA:513,Group of disorders,[Clinical group],Acute lymphoblastic leukemia,"[ALL, Acute lymphoblastic leukemia/lymphoma, Acute lymphocytic leukemia, Precursor lymphoid neoplasm]",A rare disease characterized by malignant proliferation of lymphoid cells blocked at an early stage of differentiation and accounts for 75% of all cases of childhood leukaemia.,"[613067, 247640, 613065]",,,,,Acute lymphoblastic leukemia,TRUE,FALSE,Active +GARD:5221,Active,Orphanet,ORPHA:640,Disorder,[Malformation syndrome],Hereditary neuropathy with liability to pressure palsies,"[Current pressure-sensitive neuropathy, HNPP, Heterozygous microdeletion 17p11.2p12, Potato-grubbing palsy, Tomaculous neuropathy, Tulip-bulb digger's palsy]",A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people.,[162500],,,,,Hereditary neuropathy with liability to pressure palsies,TRUE,FALSE,Active +GARD:5222,Legacy,GARD,,,,,,,,,,,,Tome Brunet Fardeau syndrome,TRUE,FALSE,Retired +GARD:5223,Legacy,GARD,,,,,,,,,,,,Toni Debre Fanconi syndrome,TRUE,FALSE,Retired +GARD:5225,Active,Orphanet,ORPHA:3338,Disorder,[Malformation syndrome],Toriello-Carey syndrome,[Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome],"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.",[217980],,,,,Toriello-Carey syndrome,TRUE,FALSE,Active +GARD:523,Legacy,GARD,,,,,,,,,,,,Acute lymphoblastic leukemia congenital sporadic aniridia,TRUE,FALSE,Active +GARD:5230,Active,Orphanet,ORPHA:3341,Disorder,[Malformation syndrome],Torticollis-keloids-cryptorchidism-renal dysplasia syndrome,,"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.",[314300],,,,,Torticollis keloids cryptorchidism renal dysplasia,TRUE,FALSE,Active +GARD:5231,Active,Orphanet,ORPHA:293165,Disorder,[Disease],Skin fragility-woolly hair-palmoplantar keratoderma syndrome,[Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome],"Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.",[607655],,,,,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,TRUE,FALSE,Active +GARD:5232,Active,Orphanet,ORPHA:3344,Disorder,[Malformation syndrome],Weismann-Netter syndrome,"[Anterior bowing of legs with dwarfism, WNS, Weismann-Netter-Stuhl syndrome]","Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.",[112350],,,,,"Bowing of legs, anterior with dwarfism",TRUE,FALSE,Active +GARD:5233,Active,Orphanet,ORPHA:3346,Disorder,[Morphological anomaly],Tracheal agenesis,,"Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.",,,,,,Tracheal agenesis,TRUE,FALSE,Active +GARD:5234,Legacy,GARD,,,,,,,,,,,,Tracheobronchomegaly,TRUE,FALSE,Active +GARD:5235,Active,Orphanet,ORPHA:3348,Disorder,[Disease],Tracheobronchopathia osteochondroplastica,[Tracheopathia osteoplastica],"A rare idiopathic, benign respiratory disease characterized by submucosal cartilaginous and/or bony nodules presenting in the trachea with or without the involvement of the major bronchi; involvement is potentially anywhere along the anterior and lateral walls of the tracheobronchial tree with sparing the posterior walls.",[189961],,,,,Tracheobronchopathia osteoplastica,TRUE,FALSE,Active +GARD:5236,Legacy,GARD,,,,,,,,,,,,Tracheoesophageal fistula symphalangism,TRUE,FALSE,Retired +GARD:5237,Active,Orphanet,ORPHA:293864,Disorder,[Malformation syndrome],Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,,"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.",[615710],,,,,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,TRUE,FALSE,Active +GARD:5238,Active,Orphanet,ORPHA:3052,Disorder,[Disease],X-linked intellectual disability-seizures-psoriasis syndrome,[Tranebjaerg-Svejgaard syndrome],"A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.",[309480],,,,,Tranebjaerg Svejgaard syndrome,TRUE,FALSE,Active +GARD:5239,Legacy,GARD,,,,,,,,,,,,Transcobalamin 1 deficiency,TRUE,FALSE,Active +GARD:524,Active,Orphanet,ORPHA:518,Disorder,[Disease],Acute megakaryoblastic leukemia,"[AMKL, AML M7, Acute megakaryocytic leukemia, Acute myeloid leukemia M7]","A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.",,,,,,Acute megakaryoblastic leukemia,TRUE,FALSE,Active +GARD:5240,Legacy,GARD,,,,,,,,,,,,Transient neonatal arthrogryposis,TRUE,FALSE,Retired +GARD:5242,Legacy,GARD,,,,,,,,,,,,Transverse limb deficiency hemangioma,TRUE,FALSE,Retired +GARD:5243,Active,Orphanet,ORPHA:1215,Disorder,[Disease],Autosomal dominant optic atrophy plus syndrome,"[DOA+, Optic atrophy-deafness-polyneuropathy-myopathy syndrome, Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome]","A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.","[125250, 165199, 616648]",,,,,Autosomal dominant optic atrophy plus syndrome,TRUE,FALSE,Active +GARD:5244,Legacy,GARD,,,,,,,,,,,,"Tremor hereditary essential, 1",TRUE,FALSE,Active +GARD:525,Active,Orphanet,ORPHA:514,Disorder,[Disease],Acute monoblastic/monocytic leukemia,"[AML M5, Acute monoblastic or monocytic leukemia]","A form of acute myeloid leukemia that is either comprised of more than 80% of monoblasts or 30-80% monoblasts with (pro)monocytic differentiation. It presents with asthenia, pallor, fever, and dizziness. Specific features include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed is t(9;11).",,,,,,Acute monoblastic leukemia,TRUE,FALSE,Active +GARD:5250,Active,Orphanet,ORPHA:863,Disorder,[Disease],Trichinellosis,[Trichinosis],"Trichinellosis is a zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.",,,,,,Trichinosis,TRUE,FALSE,Active +GARD:5252,Legacy,GARD,,,,,,,,,,,,Tricho-dento-osseous syndrome 1,TRUE,FALSE,Retired +GARD:5253,Legacy,GARD,,,,,,,,,,,,Tricho odonto onycho dermal syndrome,TRUE,FALSE,Retired +GARD:5254,Legacy,GARD,,,,,,,,,,,,Tricho odonto onychodysplasia syndactyly dominant type,TRUE,FALSE,Retired +GARD:5255,Legacy,GARD,,,,,,,,,,,,Tricho onychotic dysplasia,TRUE,FALSE,Retired +GARD:5256,Legacy,GARD,,,,,,,,,,,,Tricho onycho hypohidrotic dysplasia,TRUE,FALSE,Retired +GARD:5257,Legacy,GARD,,,,,,,,,,,,Tricho retino dento digital syndrome,TRUE,FALSE,Retired +GARD:5258,Active,Orphanet,ORPHA:84064,Disorder,[Disease],Syndromic diarrhea,"[Phenotypic diarrhea, SD/THE, Syndromic diarrhea/Tricho-hepato-enteric syndrome, Tricho-hepato-enteric syndrome, Trichohepatoenteric syndrome]","A rare gastroenterologic disease manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.","[614602, 222470]",,,,,Trichohepatoenteric syndrome,TRUE,FALSE,Active +GARD:526,Active,Orphanet,ORPHA:98833,Disorder,[Disease],Acute myeloblastic leukemia without maturation,"[AML M1, Acute myeloblastic leukemia M1]","A rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.",,,,,,Acute myeloblastic leukemia without maturation,TRUE,FALSE,Active +GARD:5261,Active,Orphanet,ORPHA:3361,Disorder,[Malformation syndrome],Trichodysplasia-xeroderma syndrome,,"Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.",[190360],,,,,Trichodysplasia xeroderma,TRUE,FALSE,Active +GARD:5262,Legacy,GARD,,,,,,,,,,,,Multiple familial trichoepithelioma 1,TRUE,FALSE,Retired +GARD:5263,Active,Orphanet,ORPHA:864,Disorder,[Disease],Trichofolliculoma,,"A rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.",,,,,,Trichofolliculoma,TRUE,FALSE,Active +GARD:5264,Legacy,GARD,,,,,,,,,,,,Trichomalacia,TRUE,FALSE,Retired +GARD:5266,Active,Orphanet,ORPHA:3363,Disorder,[Malformation syndrome],Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,"[Long eyelashes-intellectual disability syndrome, Oliver-McFarlane syndrome]","Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.",[275400],,,,,"Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina",TRUE,FALSE,Active +GARD:5267,Active,Orphanet,ORPHA:3355,Disorder,[Malformation syndrome],Trichoodontoonychial dysplasia,[Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region],"Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.",[275450],,,,,Trichoodontoonychial dysplasia,TRUE,FALSE,Active +GARD:5269,Legacy,GARD,,,,,,,,,,,,Trichostasis spinulosa,TRUE,FALSE,Active +GARD:527,Active,Orphanet,ORPHA:98834,Disorder,[Disease],Acute myeloblastic leukemia with maturation,"[AML M2, Acute myeloblastic leukemia M2]","A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.",,,,,,Acute myeloblastic leukemia with maturation,TRUE,FALSE,Active +GARD:5270,Active,Orphanet+OMIM,OMIM:601675,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 1, photosensitive","[pibids syndrome, tay syndrome, trichothiodystrophy with congenital ichthyosis, ichthyosiform erythroderma with hair abnormality and mental and growth retardation, Trichothiodystrophy, photosensitive]","Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by {9:Faghri et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Trichothiodystrophy\n\nAlso see TTD2 ({616390}), caused by mutation in the ERCC3/XPB gene ({133510}); TTD3 ({616395}), caused by mutation in the GTF2H5 gene ({608780}); TTD4 ({234050}), caused by mutation in the MPLKIP gene ({609188}); TTD5 ({300953}), caused by mutation in the RNF113A gene ({300951}); TTD6 ({616943}), caused by mutation in the GTF2E2 gene ({189964}); TTD7 ({618546}), caused by mutation in the TARS gene ({187790}); TTD8 ({619691}), caused by mutation in the AARS1 gene ({601065}); and TTD9 ({619692}), caused by mutation in the MARS1 gene ({156560}).",[601675],[33364],[Trichothiodystrophy],[12109],,Trichothiodystrophy photosensitive,TRUE,FALSE,Retired +GARD:5271,Active,Orphanet+OMIM,OMIM:234050,Subtype of disorder,[Disease subtype],"Trichothiodystrophy 4, nonphotosensitive","[trichothiodystrophy-neurocutaneous syndrome, bids syndrome, amish brittle hair brain syndrome, hair-brain syndrome, Trichothiodystrophy, nonphotosensitive 1, pollitt syndrome]","Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by {6:Faghri et al., 2008}).\n\nSabinas brittle hair syndrome ({211390}) is another form of nonphotosensitive TTD.\n\nFor a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.",[234050],[33364],[Trichothiodystrophy],[12109],,Trichothiodystrophy nonphotosensitive,TRUE,FALSE,Retired +GARD:5274,Active,Orphanet,ORPHA:1209,Disorder,[Morphological anomaly],Tricuspid atresia,,"A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption.",[605067],,,,,Tricuspid atresia,TRUE,FALSE,Active +GARD:5277,Legacy,GARD,,,,,,,,,,,,Trigonocephaly bifid nose acral anomalies,TRUE,FALSE,Active +GARD:5279,Active,Orphanet,ORPHA:2995,Disorder,[Malformation syndrome],Baraitser-Winter cerebrofrontofacial syndrome,,"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.","[243310, 614583]",,,,,Baraitser-Winter syndrome,TRUE,FALSE,Active +GARD:5280,Legacy,GARD,,,,,,,,,,,,Trigonocephaly ptosis mental retardation,TRUE,FALSE,Retired +GARD:5282,Legacy,GARD,,,,,,,,,,,,Trigonomacrocephaly tibial defect polydactyly,TRUE,FALSE,Retired +GARD:5283,Legacy,GARD,,,,,,,,,,,,Trihydroxycholestanoylcoa oxidase isolated deficiency,TRUE,FALSE,Retired +GARD:5286,Active,Orphanet,ORPHA:3374,Disorder,[Morphological anomaly],Triopia,,,,,,,,Triopia,TRUE,FALSE,Active +GARD:5287,Active,Orphanet,ORPHA:868,Disorder,[Disease],Triose phosphate-isomerase deficiency,,Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.,[615512],,,,,Triosephosphate isomerase deficiency,TRUE,FALSE,Active +GARD:5288,Legacy,GARD,,,,,,,,,,,,Triphalangeal thumb non opposable,TRUE,FALSE,Active +GARD:5289,Active,Orphanet,ORPHA:93336,Disorder,[Morphological anomaly],Polydactyly of a triphalangeal thumb,"[PPD2, Preaxial polydactyly type 2]","Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).",[174500],,,,,Preaxial polydactyly type 2,TRUE,FALSE,Active +GARD:529,Active,Orphanet,ORPHA:517,Disorder,[Disease],Acute myelomonocytic leukemia,"[AML M4, AMMoL]","A rare acute myeloid leukemia disorder characterized by increased blast cells (myeloblasts, monoblast, and/or promonoblasts), representing more than 20% of the total bone marrow (BM) or peripheral blood differential counts, with 20-80% of BM cells being of monocytic lineage. Clinical presentation is the result of bone marrow involvement and extramedullary infiltration by the leukemic cells and includes asthenia, pallor, fever, dizziness, respiratory symptoms, easy bruising, bleeding disorders, and neurological deficits. Gingival hyperplasia, organomegaly, especially hepatosplenomegaly, and lymphadenopathy may also be associated.",,,,,,Acute myelomonocytic leukemia,TRUE,FALSE,Active +GARD:5290,Active,Orphanet,ORPHA:2947,Disorder,[Malformation syndrome],Triphalangeal thumbs-brachyectrodactyly syndrome,[Carnevale-Hernández-del Castillo syndrome],"A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.",[190680],,,,,Triphalangeal thumbs brachyectrodactyly,TRUE,FALSE,Active +GARD:5295,Active,Orphanet,ORPHA:3376,Disorder,[Malformation syndrome],Triploidy,,"Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.",,,,,,Triploidy,TRUE,FALSE,Active +GARD:5299,Active,Orphanet,ORPHA:171929,Disorder,[Malformation syndrome],Trisomy 10p,,Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.,,,,,,Chromosome 10p duplication,TRUE,FALSE,Active +GARD:530,Legacy,GARD,,,,,,,,,,,,Acute myeloblastic leukemia type 5,TRUE,FALSE,Retired +GARD:5304,Active,Orphanet,ORPHA:1698,Disorder,[Malformation syndrome],Mosaic trisomy 12,"[Mosaic trisomy chromosome 12, Trisomy 12 mosaicism]","Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.",,,,,,Trisomy 12 mosaicism,TRUE,FALSE,Active +GARD:5305,Active,Orphanet,ORPHA:1699,Disorder,[Malformation syndrome],Trisomy 12p,[Duplication 12p],"A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.",,,,,,Chromosome 12p duplication,TRUE,FALSE,Active +GARD:5311,Legacy,GARD,,,,,,,,,,,,Chromosome 14q duplication,TRUE,FALSE,Active +GARD:5313,Active,Orphanet,ORPHA:1706,Disorder,[Malformation syndrome],Mosaic trisomy 15,"[Mosaic trisomy chromosome 15, Trisomy 15 mosaicism]","Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.",,,,,,"Chromosome 15, trisomy mosaicism",TRUE,FALSE,Active +GARD:5314,Legacy,GARD,,,,,,,,,,,,Chromosome 15q duplication,TRUE,FALSE,Active +GARD:5315,Legacy,GARD,,,,,,,,,,,,Chromosome 16p duplication,TRUE,FALSE,Active +GARD:5316,Legacy,GARD,,,,,,,,,,,,Chromosome 16q duplication,TRUE,FALSE,Active +GARD:5317,Active,Orphanet,ORPHA:1711,Disorder,[Malformation syndrome],Mosaic trisomy 17,"[Mosaic trisomy chromosome 17, Trisomy 17 mosaicism]","Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.",,,,,,Trisomy 17 mosaicism,TRUE,FALSE,Active +GARD:5318,Active,Orphanet,ORPHA:261290,Disorder,[Malformation syndrome],Trisomy 17p,[Dup(17p)],"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.",,,,,,Chromosome 17p duplication,TRUE,FALSE,Active +GARD:532,Legacy,GARD,,,,,,,,,,,,Acute myeloblastic leukemia type 7,TRUE,FALSE,Retired +GARD:5320,Legacy,GARD,,,,,,,,,,,,Chromosome 17q duplication,TRUE,FALSE,Active +GARD:5323,Active,Orphanet,ORPHA:1715,Disorder,[Malformation syndrome],Trisomy 18p,"[Duplication 18p, Duplication of the short arm of chromosome 18, Trisomy of the short arm of chromosome 18]","A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others.",,,,,,Chromosome 18p duplication,TRUE,FALSE,Active +GARD:5324,Legacy,GARD,,,,,,,,,,,,Chromosome 18q duplication,TRUE,FALSE,Active +GARD:5326,Legacy,GARD,,,,,,,,,,,,Chromosome 19q duplication,TRUE,FALSE,Active +GARD:5331,Active,Orphanet,ORPHA:1723,Disorder,[Malformation syndrome],Mosaic trisomy 2,"[Mosaic trisomy chromosome 2, Trisomy 2 mosaicism]","Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.",,,,,,Trisomy 2 mosaicism,TRUE,FALSE,Active +GARD:5332,Legacy,GARD,,,,,,,,,,,,Chromosome 20 trisomy,TRUE,FALSE,Active +GARD:5333,Active,Orphanet,ORPHA:261318,Disorder,[Malformation syndrome],Trisomy 20p,"[Dup(20p), Duplication of 20p, Partial duplication of chromosome 20p, Partial duplication of the short arm of chromosome 20, Partial trisomy of chromosome 20p, Partial trisomy of the short arm of chromosome 20]","Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.",,,,,,Chromosome 20p duplication,TRUE,FALSE,Active +GARD:5335,Legacy,GARD,,,,,,,,,,,,Trisomy 22,TRUE,FALSE,Active +GARD:5337,Legacy,GARD,,,,,,,,,,,,Chromosome 2p duplication,TRUE,FALSE,Active +GARD:5340,Legacy,GARD,,,,,,,,,,,,Chromosome 2q duplication,TRUE,FALSE,Active +GARD:5342,Active,Orphanet,ORPHA:100071,Disorder,[Malformation syndrome],Mosaic trisomy 3,"[Mosaic trisomy chromosome 3, Trisomy 3 mosaicism]","Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.",,,,,,Trisomy 3 mosaicism,TRUE,FALSE,Active +GARD:5343,Legacy,GARD,,,,,,,,,,,,Chromosome 3p duplication,TRUE,FALSE,Active +GARD:5345,Legacy,GARD,,,,,,,,,,,,Chromosome 3q duplication,TRUE,FALSE,Active +GARD:5347,Legacy,GARD,,,,,,,,,,,,Chromosome 4q duplication,TRUE,FALSE,Active +GARD:535,Legacy,GARD,,,,,,,,,,,,"Acute myeloid leukemia, adult",TRUE,FALSE,Retired +GARD:5351,Legacy,GARD,,,,,,,,,,,,Chromosome 5q duplication,TRUE,FALSE,Active +GARD:5352,Legacy,GARD,,,,,,,,,,,,Chromosome 6p duplication,TRUE,FALSE,Active +GARD:5353,Legacy,GARD,,,,,,,,,,,,Chromosome 6q duplication,TRUE,FALSE,Active +GARD:5354,Active,Orphanet,ORPHA:1747,Disorder,[Malformation syndrome],Mosaic trisomy 7,"[Mosaic trisomy chromosome 7, Trisomy 7 mosaicism]","Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.",,,,,,Mosaic trisomy 7,TRUE,FALSE,Active +GARD:5355,Legacy,GARD,,,,,,,,,,,,Chromosome 7p duplication,TRUE,FALSE,Active +GARD:5357,Legacy,GARD,,,,,,,,,,,,Chromosome 7q duplication,TRUE,FALSE,Active +GARD:5359,Active,Orphanet,ORPHA:96061,Disorder,[Malformation syndrome],Mosaic trisomy 8,"[Mosaic trisomy chromosome 8, Trisomy 8 mosaicism, Warkany syndrome]","A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.",,,,,,Mosaic trisomy 8,TRUE,FALSE,Active +GARD:536,Active,Orphanet,ORPHA:98829,Disorder,[Disease],Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),[AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)],"A rare acute myeloid leukemia (AML) with recurrent genetic anomaly disorder characterized by an inv(16)(p13q22) or t(16;16)(p13;q22) cytogenic abnormality, which generates a CBFB-MYH11 fusion gene, presenting with typical morphologic features of AML as well as abnormal bone marrow eosinophils (seen in all stages of maturation with no significant signs of maturation arrest). Myeloid sarcoma and involvement of the central nervous system is relatively common. Cytology reveals myeloblasts, a significant monocytic component and variable numbers of immature eosinophils with atypical purple-violet granules in addition to eosinophilic granules. Presence of the fusion gene is sufficent for diagnosis irrespective of blast count.",,,,,,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) ,TRUE,FALSE,Active +GARD:5361,Legacy,GARD,,,,,,,,,,,,Chromosome 8p duplication,TRUE,FALSE,Active +GARD:5362,Active,Orphanet,ORPHA:1752,Disorder,[Malformation syndrome],Trisomy 8q,[Duplication 8q],"A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.",,,,,,Chromosome 8q duplication,TRUE,FALSE,Active +GARD:5364,Legacy,GARD,,,,,,,,,,,,Chromosome 9p duplication,TRUE,FALSE,Active +GARD:5369,Legacy,GARD,,,,,,,,,,,,Chromosome Xq duplication,TRUE,FALSE,Active +GARD:537,Legacy,GARD,,,,,,,,,,,,Acute non lymphoblastic leukemia,TRUE,FALSE,Active +GARD:5371,Legacy,GARD,,,,,,,,,,,,Trochlear dysplasia,TRUE,FALSE,Active +GARD:5372,Active,Orphanet,ORPHA:101000,Disorder,[Disease],Autosomal recessive spastic paraplegia type 20,"[Childhood-onset spastic paraparesis-distal muscle wasting syndrome, SPG20, Troyer syndrome]","Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.",[275900],,,,,Troyer syndrome,TRUE,FALSE,Active +GARD:5376,Legacy,GARD,,,,,,,,,,,,Trueb Burg Bottani syndrome,TRUE,FALSE,Active +GARD:5378,Legacy,GARD,,,,,,,,,,,,Tsukahara Azuno Kajii syndrome,TRUE,FALSE,Retired +GARD:538,Active,Orphanet,ORPHA:520,Disorder,[Disease],Acute promyelocytic leukemia,"[AML M3, AML with t(15;17)(q22;q12);(PML/RARalpha) and variants, APML, Acute myeloblastic leukemia 3, Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants]","An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue.",[612376],,,,,Acute promyelocytic leukemia,TRUE,FALSE,Active +GARD:5380,Legacy,GARD,,,,,,,,,,,,"Tuberous sclerosis, type 1",TRUE,FALSE,Retired +GARD:5381,Legacy,GARD,,,,,,,,,,,,"Tuberous sclerosis, type 2",TRUE,FALSE,Retired +GARD:5388,Active,Orphanet,ORPHA:3402,Disorder,[Disease],Transient tyrosinemia of the newborn,[Transient tyrosinemia of the neonate],"Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.",,,,,,Tyrosine-oxidase temporary deficiency,TRUE,FALSE,Active +GARD:5392,Active,Orphanet,ORPHA:79238,Disorder,[Disease],Galactose epimerase deficiency,"[Epimerase deficiency galactosemia, GALE deficiency, GALE-D, Galactosemia type 3, UDP-galactose-4-epimerase deficiency, Uridine diphosphate galactose-4-epimerase deficiency]","A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.",[230350],,,,,Galactose epimerase deficiency,TRUE,FALSE,Active +GARD:5393,Active,Orphanet,ORPHA:3403,Disorder,[Morphological anomaly],Uhl anomaly,,Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.,[107970],,,,,Uhl anomaly,TRUE,FALSE,Retired +GARD:5394,Active,Orphanet,ORPHA:3404,Disorder,[Malformation syndrome],Ulbright-Hodes syndrome,"[Renal dysplasia-limb defects syndrome, Renal dysplasia-mesomelia-radiohumeral fusion syndrome]","Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.",[266910],,,,,Renal dysplasia-limb defects syndrome,TRUE,FALSE,Active +GARD:5395,Active,Orphanet,ORPHA:3406,Disorder,[Disease],Ulerythema ophryogenesis,,"Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.",[604093],,,,,Ulerythema ophryogenesis,TRUE,FALSE,Active +GARD:5398,Active,Orphanet,ORPHA:2249,Disorder,[Malformation syndrome],Ulna hypoplasia-intellectual disability syndrome,,"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.",[276821],,,,,Ulna hypoplasia-intellectual disability syndrome,TRUE,FALSE,Active +GARD:54,Active,Orphanet,ORPHA:1203,Disorder,[Morphological anomaly],Duodenal atresia,,"A rare, non-syndromic intestinal malformation characterized by a complete but short segment obliteration of the duodenal lumen.",[223400],,,,,Duodenal atresia,TRUE,FALSE,Active +GARD:540,Active,Orphanet,ORPHA:42,Disorder,[Disease],Medium chain acyl-CoA dehydrogenase deficiency,"[ACADM deficiency, Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency, MCAD deficiency, MCADD, Medium chain acyl-coenzyme A dehydrogenase deficiency]","Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.",[201450],,,,,Medium-chain acyl-coenzyme A dehydrogenase deficiency,TRUE,FALSE,Active +GARD:5400,Active,Orphanet,ORPHA:1122,Disorder,[Malformation syndrome],Ulnar hypoplasia-split foot syndrome,"[Ulnar hypoplasia-lobster-claw deformity of feet syndrome, Van den Berghe-Dequecker syndrome]","Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.",[314360],,,,,Ulnar hypoplasia lobster claw deformity of feet,TRUE,FALSE,Active +GARD:5403,Active,Orphanet,ORPHA:3405,Disorder,[Malformation syndrome],Umbilical cord ulceration-intestinal atresia syndrome,,"A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia.",,,,,,Umbilical cord ulceration and intestinal atresia,TRUE,FALSE,Active +GARD:5404,Active,Orphanet,ORPHA:1410,Disorder,[Disease],Uncombable hair syndrome,[Pili trianguli et canaliculi],"Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.","[617251, 617252, 191480]",,,,,Uncombable hair syndrome,TRUE,FALSE,Active +GARD:5406,Legacy,GARD,,,,,,,,,,,,"Chromosome 10, uniparental disomy",TRUE,FALSE,Active +GARD:5407,Legacy,GARD,,,,,,,,,,,,Uniparental disomy of chromosome 11,TRUE,FALSE,Active +GARD:5408,Active,Orphanet,ORPHA:97685,Subtype of disorder,[Clinical subtype],17q11 microdeletion syndrome,"[Del(17)(q11), Monosomy 17q11, NF1 microdeletion syndrome, Neurofibromatosis type 1 microdeletion syndrome]","17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.",[613675],,,,,Chromosome 17q11.2 deletion syndrome,TRUE,FALSE,Active +GARD:5409,Active,Orphanet,ORPHA:96334,Subtype of disorder,[Etiological subtype],Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,[UPD(14)pat],,[608149],,,,,Paternal uniparental disomy of chromosome 14,TRUE,FALSE,Active +GARD:5411,Legacy,GARD,,,,,,,,,,,,"Chromosome 16, uniparental disomy",TRUE,FALSE,Active +GARD:5412,Legacy,GARD,,,,,,,,,,,,Uniparental disomy of chromosome 2,TRUE,FALSE,Active +GARD:5413,Legacy,GARD,,,,,,,,,,,,"Chromosome 21, uniparental disomy",TRUE,FALSE,Active +GARD:5415,Legacy,GARD,,,,,,,,,,,,"Chromosome 5, uniparental disomy",TRUE,FALSE,Active +GARD:5416,Legacy,GARD,,,,,,,,,,,,Uniparental disomy of chromosome 6,TRUE,FALSE,Active +GARD:5421,Active,Orphanet,ORPHA:3408,Disorder,[Malformation syndrome],Upington disease,[Hip dysplasia-enchondromata-ecchondroma syndrome],"A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971.",[191520],,,,,Upington disease,TRUE,FALSE,Active +GARD:5424,Legacy,GARD,,,,,,,,,,,,Upton Young syndrome,TRUE,FALSE,Retired +GARD:5425,Active,Orphanet,ORPHA:488,Disorder,[Morphological anomaly],Urachal cyst,,"Urachal cyst is a congenital urachal anomaly (see this term) characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.",,,,,,Urachal cyst,TRUE,FALSE,Active +GARD:5426,Active,Orphanet,ORPHA:3409,Disorder,[Malformation syndrome],Urban-Rogers-Meyer syndrome,"[Intellectual disability-short stature-hand contractures-genital anomalies syndrome, Prader-Willi habitus-osteopenia-camptodactyly syndrome]","This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.",[264010],,,,,"Prader-Willi habitus, osteopenia, and camptodactyly",TRUE,FALSE,Active +GARD:5427,Active,Orphanet,ORPHA:1839,Disorder,[Malformation syndrome],Hereditary mucoepithelial dysplasia,[Urban-Schosser-Spohn syndrome],"A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number of desmosomes.",[158310],,,,,Hereditary mucoepithelial dysplasia,TRUE,FALSE,Active +GARD:5428,Legacy,GARD,,,,,,,,,,,,Urethral obstruction sequence,TRUE,FALSE,Active +GARD:5429,Active,Orphanet,ORPHA:30,Disorder,[Disease],Hereditary orotic aciduria,"[Orotidylic decarboxylase deficiency, Uridine monophosphate synthetase deficiency]","A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as epilepsy, have also been reported.",[258900],,,,,Orotic aciduria type 1,TRUE,FALSE,Active +GARD:5430,Active,Orphanet,ORPHA:1655,Disorder,[Malformation syndrome],Müllerian derivatives-lymphangiectasia-polydactyly syndrome,[Urioste syndrome],"A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.",[235255],,,,,Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly,TRUE,FALSE,Active +GARD:5432,Legacy,GARD,,,,,,,,,,,,Urogenital adysplasia,TRUE,FALSE,Active +GARD:5433,Legacy,GARD,,,,,,,,,,,,Uropathy distal obstructive polydactyly,TRUE,FALSE,Retired +GARD:5435,Active,Orphanet,ORPHA:231169,Subtype of disorder,[Clinical subtype],Usher syndrome type 1,[USH1],"A rare ciliopathy characterized by profound congenital deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance.","[602097, 614990, 602083, 612632, 276900, 614869, 618632, 276904, 606943, 601067]",,,,,"Usher syndrome, type 1",TRUE,FALSE,Active +GARD:5436,Active,Orphanet+OMIM,OMIM:276900,Subtype of disorder,[Clinical subtype],"Usher syndrome, type i","[retinitis pigmentosa and congenital deafness, Us1]","Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({42:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss. Patients with type IV (USH4; {618144}) have late onset of both retinitis pigmentosa and progressive, moderate to severe sensorineural hearing loss without vestibular involvement ({32:Khateb et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Usher Syndrome Type I\n\nUSH type I is genetically heterogeneous. USH1C ({276904}), the 'Acadian variety,' is caused by mutation in harmonin ({605242}), on 11p15. USH1D ({601067}) is caused by mutation in the cadherin-23 (CDH23; {605516}) on 10q21. USH1F ({602083}) is caused by mutation in the protocadherin-15 (PCDH15; {605514}) on 10q22. USH1G ({606943}) is caused by mutation in the SANS gene ({607696}), on 17q25. USH1E ({602097}) maps to 21q21, and USH1H ({612632}) maps to 15q22-q23. USH1J ({614869}) is caused by mutation in the CIB2 gene ({605564}) on 15q24. USH1K ({614990}) maps to chromosome 10p11.21-q21.1.\n\nA form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.\n\n{17:Gerber et al. (2006)} presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.\n\n{4:Ahmed et al. (2003)} reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.",[276900],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1B",TRUE,FALSE,Active +GARD:5437,Active,Orphanet+OMIM,OMIM:276904,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ic","[Usher syndrome, type i, acadian variety]","Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({9:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900}).",[276904],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1C",TRUE,FALSE,Active +GARD:5438,Active,Orphanet+OMIM,OMIM:601067,Subtype of disorder,[Clinical subtype],"Usher syndrome, type id",,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({3:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see {276900}.",[601067],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1D",TRUE,FALSE,Active +GARD:5439,Active,Orphanet+OMIM,OMIM:602097,Subtype of disorder,[Clinical subtype],"Usher syndrome, type ie",,"Usher syndrome type I an autosomal recessive disorder characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa, and constant vestibular dysfunction (summary by {1:Chaib et al., 1997}).\n\nFor a discussion of genetic heterogeneity of USH type I, see {276900}.",[602097],[231169],[Usher syndrome type 1],[5435],,"Usher syndrome, type 1E",TRUE,FALSE,Active +GARD:5440,Active,Orphanet,ORPHA:231178,Subtype of disorder,[Clinical subtype],Usher syndrome type 2,[USH2],"A rare ciliopathy characterized by congenital moderate-to-severe deafness, retinitis pigmentosa developing in the first or second decade, and normal vestibular function. Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness, constricted visual field (tunnel vision), and later on decreased visual acuity sometimes ending with bare light perception.","[276901, 611383, 605472]",,,,,Usher syndrome type 2A,TRUE,FALSE,Active +GARD:5441,Legacy,GARD,,,,,,,,,,,,"Usher syndrome, type 2B",TRUE,FALSE,Active +GARD:5442,Active,Orphanet,ORPHA:231183,Subtype of disorder,[Clinical subtype],Usher syndrome type 3,[USH3],"A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood.","[500004, 276902, 614504]",,,,,Usher syndrome type 3A,TRUE,FALSE,Active +GARD:5443,Active,Orphanet,ORPHA:887,Disorder,[Malformation syndrome],VACTERL/VATER association,"[VACTERL association, VATER association]","VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.",[192350],,,,,VACTERL association,TRUE,FALSE,Active +GARD:5444,Legacy,GARD,,,,,,,,,,,,Vacuolar myopathy,FALSE,FALSE,Retired +GARD:5445,Active,Orphanet,ORPHA:3109,Disorder,[Malformation syndrome],Mayer-Rokitansky-Küster-Hauser syndrome,"[MRKH syndrome, Rokitansky syndrome]",Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations) (see these terms).,"[277000, 601076]",,,,,Mayer-Rokitansky-Kuster-Hauser syndrome,TRUE,FALSE,Retired +GARD:5447,Active,Orphanet,ORPHA:1906,Disorder,[Malformation syndrome],Fetal valproate spectrum disorder,"[Fetal valproate syndrome, Fetal valproic acid syndrome, Valproic acid embryopathy]","A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).",[609442],,,,,Fetal valproate syndrome,TRUE,FALSE,Active +GARD:5448,Legacy,GARD,,,,,,,,,,,,Van Allen Myhre syndrome,TRUE,FALSE,Retired +GARD:545,Legacy,GARD,,,,,,,,,,,,Adducted thumbs Dundar type,TRUE,FALSE,Retired +GARD:5453,Active,Orphanet,ORPHA:3417,Disorder,[Malformation syndrome],Van den Bosch syndrome,,"A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.",[314500],,,,,Van Den Bosch syndrome,TRUE,FALSE,Active +GARD:5456,Active,Orphanet,ORPHA:314679,Disorder,[Malformation syndrome],Cerebrofacioarticular syndrome,[Van Maldergem syndrome],"Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.","[615546, 601390]",,,,,Cerebro-facio-articular syndrome,TRUE,FALSE,Active +GARD:5457,Legacy,GARD,,,,,,,,,,,,Van Regemorter Pierquin Vamos syndrome,TRUE,FALSE,Retired +GARD:5458,Legacy,GARD,,,,,,,,,,,,Orofaciodigitale syndrome 6,TRUE,FALSE,Retired +GARD:5459,Legacy,GARD,,,,,,,,,,,,Varicella virus antenatal infection,TRUE,FALSE,Retired +GARD:546,Active,Orphanet,ORPHA:976,Disorder,[Disease],Adenine phosphoribosyltransferase deficiency,"[2,8-dihydroxyadenine urolithiasis, APRT deficiency]","A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.",[614723],,,,,Adenine phosphoribosyltransferase deficiency,TRUE,FALSE,Active +GARD:5461,Active,Orphanet,ORPHA:48,Disorder,[Morphological anomaly],Congenital bilateral absence of vas deferens,"[Congenital bilateral agenesis of vas deferens, Congenital bilateral aplasia of vas deferens]",Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.,"[300985, 277180]",,,,,Congenital bilateral absence of the vas deferens,TRUE,FALSE,Active +GARD:5463,Legacy,GARD,,,,,,,,,,,,Vascular malposition,TRUE,FALSE,Retired +GARD:5465,Legacy,GARD,,,,,,,,,,,,Vasquez Hurst Sotos syndrome,TRUE,FALSE,Active +GARD:5467,Active,Orphanet,ORPHA:1053,Disorder,[Morphological anomaly],Vein of Galen aneurysmal malformation,[Vein of Galen arteriovenous malformations],A congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis.,[618196],,,,,Vein of Galen aneurysm,TRUE,FALSE,Active +GARD:5469,Active,Orphanet,ORPHA:3424,Disorder,[Malformation syndrome],Velo-facial-skeletal syndrome,,"A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.",[600736],,,,,Velofacioskeletal syndrome,TRUE,FALSE,Active +GARD:547,Active,Orphanet,ORPHA:45,Disorder,[Disease],Adenosine monophosphate deaminase deficiency,"[AMP deaminase deficiency, Myoadenylate deaminase deficiency]","A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.","[615511, 612874]",,,,,Adenosine monophosphate deaminase 1 deficiency,TRUE,FALSE,Active +GARD:5470,Active,Orphanet,ORPHA:2291,Disorder,[Morphological anomaly],Congenital velopharyngeal incompetence,,"A rare otorhinolaryngologic malformation characterized by the isolated finding of a short and immobile soft palate with anatomical disproportion of the velopharyngeal structures, preventing velopharyngeal closure. Patients present with delayed speech development and hypernasal speech.",[167500],,,,,Palatopharyngeal incompetence,TRUE,FALSE,Active +GARD:5472,Active,Orphanet,ORPHA:3201,Disorder,[Malformation syndrome],Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome,[Stoll-Kieny-Dott syndrome],"This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term).",[192445],,,,,Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence,TRUE,FALSE,Active +GARD:5474,Legacy,GARD,,,,,,,,,,,,"Ventricular fibrillation, idiopathic",TRUE,FALSE,Active +GARD:5476,Active,Orphanet,ORPHA:860,Disorder,[Morphological anomaly],Congenitally uncorrected transposition of the great arteries,"[Congenitally uncorrected transposition of the great vessels, D-transposition of the great arteries, Dextro-transposition of the great arteries, Isolated ventriculoarterial discordance, Ventriculoarterial discordance with atrioventricular concordance]","Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.","[613854, 608808]",,,,,"Ventriculoarterial discordance, isolated",TRUE,FALSE,Active +GARD:5477,Legacy,GARD,,,,,,,,,,,,Ventruto Digirolamo Festa syndrome,TRUE,FALSE,Retired +GARD:5478,Active,Orphanet,ORPHA:2899,Disorder,[Malformation syndrome],Brachyolmia-amelogenesis imperfecta syndrome,"[Platyspondyly-amelogenesis imperfecta syndrome, Verloes-Bourguignon syndrome]","An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.",[601216],,,,,Verloes Bourguignon syndrome,TRUE,FALSE,Active +GARD:548,Legacy,GARD,,,,,,,,,,,,Anemia due to Adenosine triphosphatase deficiency,TRUE,FALSE,Active +GARD:5481,Active,Orphanet,ORPHA:2551,Disorder,[Malformation syndrome],Microspherophakia-metaphyseal dysplasia syndrome,[Verloes-Van Maldergem-de Marneffe syndrome],Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.,[157151],,,,,Verloes Van Maldergem Marneffe syndrome,TRUE,FALSE,Active +GARD:5482,Active,Orphanet,ORPHA:3429,Disorder,[Malformation syndrome],Verloove Vanhorick-Brubakk syndrome,[Cleft lip-limb and heart malformations syndrome],"Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.",[215850],,,,,Verloove Vanhorick Brubakk syndrome,TRUE,FALSE,Active +GARD:5484,Active,Orphanet,ORPHA:79466,Subtype of disorder,[Clinical subtype],Inflammatory linear verrucous epidermal nevus,[ILVEN],,,,,,,Inflammatory linear verrucous epidermal nevus,TRUE,FALSE,Active +GARD:5485,Active,Orphanet,ORPHA:79468,Subtype of disorder,[Clinical subtype],Acanthokeratolytic verrucous nevus,,,,,,,,Verrucous nevus acanthokeratolytic,TRUE,FALSE,Active +GARD:5486,Legacy,GARD,,,,,,,,,,,,Vertebral body fusion overgrowth,TRUE,FALSE,Active +GARD:5487,Legacy,GARD,,,,,,,,,,,,Vertebral fusion posterior lumbosacral blepharoptosis,TRUE,FALSE,Retired +GARD:5488,Active,Orphanet,ORPHA:178382,Disorder,[Morphological anomaly],Congenital vertical talus,"[Congenital convex foot, Congenital convex pes valgus, Congenital rocker-bottom foot]","Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.",[192950],,,,,Congenital vertical talus,TRUE,FALSE,Active +GARD:5489,Legacy,GARD,,,,,,,,,,,,"Vestibulocochlear dysfunction, progressive",TRUE,FALSE,Active +GARD:5490,Active,Orphanet,ORPHA:3433,Disorder,[Malformation syndrome],Microcephaly-brachydactyly-kyphoscoliosis syndrome,[Viljoen-Kallis-Voges syndrome],"Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.",,,,,,Viljoen Kallis Voges syndrome,TRUE,FALSE,Active +GARD:5492,Legacy,GARD,,,,,,,,,,,,Viljoen Winship syndrome,TRUE,FALSE,Retired +GARD:5493,Legacy,GARD,,,,,,,,,,,,VIPoma,TRUE,FALSE,Active +GARD:5494,Active,Orphanet,ORPHA:341,Group of disorders,[Category],Viral hemorrhagic fever,,"Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg's disease that first occurred in 1967, and Ebola fever that appeared in 1976. Other viruses may also cause hemorrhagic fevers (for example, arbovirus fever).",,,,,,Viral hemorrhagic fever,TRUE,FALSE,Active +GARD:5495,Active,Orphanet,ORPHA:99916,Disorder,[Disease],Malignant Sertoli-Leydig cell tumor of the ovary,"[Androblastoma, Arrhenoblastoma, Ovarian Sertoli-Leydig cell cancer, Ovarian malignant Sertoli-Leydig cell tumor, Virilizing ovarian tumor]","A rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.",,,,,,Virilizing ovarian tumor,TRUE,FALSE,Active +GARD:5496,Active,Orphanet,ORPHA:1876,Disorder,[Disease],Oculogastrointestinal muscular dystrophy,[Visceral myopathy-familial external ophthalmoplegia syndrome],"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.",[277320],,,,,Familial visceral myopathy with external ophthalmoplegia,TRUE,FALSE,Active +GARD:5498,Legacy,GARD,,,,,,,,,,,,Vitamin A embryopathy,TRUE,FALSE,Retired +GARD:550,Active,Orphanet,ORPHA:46,Disorder,[Disease],Adenylosuccinate lyase deficiency,"[ADSL deficiency, Adenylosuccinase deficiency]","A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.",[103050],,,,,Adenylosuccinase deficiency,TRUE,FALSE,Active +GARD:5500,Active,Orphanet,ORPHA:79310,Subtype of disorder,[Clinical subtype],Vitamin B12-responsive methylmalonic acidemia type cblA,[Vitamin B12-responsive methylmalonic aciduria type cblA],,[251100],,,,,"Methylmalonic aciduria, cblA type",TRUE,FALSE,Active +GARD:5504,Legacy,GARD,,,,,,,,,,,,Vitiligo mental retardation facial dysmorphism uremia,TRUE,FALSE,Retired +GARD:5506,Legacy,GARD,,,,,,,,,,,,Vitreoretinal degeneration,TRUE,FALSE,Active +GARD:5507,Active,Orphanet,ORPHA:3086,Disorder,[Disease],Autosomal dominant vitreoretinochoroidopathy,[ADVIRC],"A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.",[193220],,,,,Autosomal dominant vitreoretinochoroidopathy,TRUE,FALSE,Active +GARD:5508,Active,Orphanet,ORPHA:26793,Disorder,[Disease],Very long chain acyl-CoA dehydrogenase deficiency,"[VLCAD deficiency, VLCADD]","Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.",[201475],,,,,VLCAD deficiency,TRUE,FALSE,Active +GARD:5509,Active,Orphanet,ORPHA:2808,Disorder,[Malformation syndrome],Laryngeal abductor paralysis,"[Familial vocal cord dysfunction, Gerhardt syndrome]",,[150260],,,,,Vocal cord dysfunction familial,TRUE,FALSE,Active +GARD:5513,Active,Orphanet,ORPHA:2578,Subtype of disorder,[Clinical subtype],Mayer-Rokitansky-Küster-Hauser syndrome type 2,"[Atypical MRKH syndrome, MRKH syndrome type 2, MURCS association, Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome]","Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.",[601076],,,,,MURCS association,TRUE,FALSE,Active +GARD:5518,Active,Orphanet,ORPHA:2180,Disorder,[Malformation syndrome],Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome,"[Ferlini-Ragno-Calzolari syndrome, Waaler-Aarskog syndrome]","A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.",[600991],,,,,"Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly",TRUE,FALSE,Active +GARD:5519,Active,Orphanet,ORPHA:894,Subtype of disorder,[Clinical subtype],Waardenburg syndrome type 1,"[WS1, Waardenburg syndrome type I]","A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.",[193500],,,,,Waardenburg syndrome type 1,TRUE,FALSE,Active +GARD:552,Legacy,GARD,,,,,,,,,,,,Adolescent idiopathic scoliosis,FALSE,FALSE,Active +GARD:5520,Active,Orphanet,ORPHA:895,Subtype of disorder,[Clinical subtype],Waardenburg syndrome type 2,"[WS2, Waardenburg syndrome type II]","An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.","[600193, 608890, 611584, 606662, 193510]",,,,,Waardenburg syndrome type 2,TRUE,FALSE,Active +GARD:5521,Legacy,GARD,,,,,,,,,,,,Waardenburg syndrome type 2A,TRUE,FALSE,Retired +GARD:5522,Active,Orphanet+OMIM,OMIM:600193,Subtype of disorder,[Clinical subtype],"Waardenburg syndrome, type 2b",,"Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS ({1:Hughes et al., 1994}). WS type 2B (WS2B) maps to chromosome 1p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580}).",[600193],[895],[Waardenburg syndrome type 2],[5520],,Waardenburg syndrome type 2B,TRUE,FALSE,Retired +GARD:5523,Active,Orphanet,ORPHA:896,Subtype of disorder,[Clinical subtype],Waardenburg syndrome type 3,"[Klein-Waardenburg syndrome, WS3, Waardenburg syndrome type III, Waardenburg syndrome with limb anomalies]","A very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.",[148820],,,,,Waardenburg syndrome type 3,TRUE,FALSE,Active +GARD:5524,Active,Orphanet,ORPHA:897,Disorder,[Disease],Waardenburg-Shah syndrome,"[Shah-Waardenburg syndrome, WS4, Waardenburg syndrome type 4, Waardenburg-Hirschsprung syndrome]","Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).","[277580, 613265, 613266]",,,,,Waardenburg syndrome type 4,TRUE,FALSE,Active +GARD:5525,Active,Orphanet,ORPHA:3440,Disorder,[Disease],Waardenburg syndrome,,"Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.","[148820, 193500, 600193, 608890, 611584, 606662, 193510]",,,,,Waardenburg syndrome,TRUE,FALSE,Active +GARD:5528,Active,Orphanet,ORPHA:893,Disorder,[Malformation syndrome],WAGR syndrome,"[Del(11)(p13), Deletion 11p13, Monosomy 11p13, Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome]","A rare genetic disorder characterized by the association of total or partial aniridia, genitourinary anomalies (ranging from sexual ambiguity to ectopia testis), variable degrees of intellectual disability, and an increased risk of developing Wilms tumor. Glaucoma or cataract are also possible, and a minority of patients develop kidney failure. Other varaible findings may include obesity and duplicated halluces.","[612469, 194072]",,,,,WAGR syndrome,TRUE,FALSE,Active +GARD:5529,Legacy,GARD,,,,,,,,,,,,Walbaum Titran Durieux Crepin syndrome,TRUE,FALSE,Active +GARD:5530,Active,Orphanet,ORPHA:1068,Disorder,[Malformation syndrome],Aniridia-intellectual disability syndrome,[Walker-Dyson syndrome],"An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.",,,,,,Walker Dyson syndrome,TRUE,FALSE,Active +GARD:5532,Active,Orphanet,ORPHA:1453,Disorder,[Malformation syndrome],Cleidorhizomelic syndrome,"[Rhizomelic shortness with clavicular defect, Wallis-Zieff-Goldblatt syndrome]",Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.,[119650],,,,,Cleidorhizomelic syndrome,TRUE,FALSE,Active +GARD:5534,Active,Orphanet,ORPHA:2510,Disorder,[Malformation syndrome],Micro syndrome,"[WARBM, Warburg micro syndrome]","Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.","[614225, 614222, 615663, 600118]",,,,,Micro syndrome,TRUE,FALSE,Active +GARD:5535,Active,Orphanet,ORPHA:3214,Disorder,[Malformation syndrome],"Deaf blind hypopigmentation syndrome, Yemenite type","[Warburg-Thomsen syndrome, Yemenite deaf-blind hypopigmentation syndrome]","Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.",[601706],,,,,Yemenite deaf-blind hypopigmentation syndrome,TRUE,FALSE,Active +GARD:5538,Active,Orphanet,ORPHA:1541,Disorder,[Malformation syndrome],"Craniosynostosis, Boston type","[Craniosynostosis, Warman type, Warman-Mulliken-Hayward syndrome]","Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.",[604757],,,,,Warman Mulliken Hayward syndrome,TRUE,FALSE,Active +GARD:5539,Active,Orphanet,ORPHA:1827,Disorder,[Malformation syndrome],Acromelic frontonasal dysplasia,"[AFND, Acromelic frontonasal dysostosis, Toriello syndrome]","A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.",[603671],,,,,Acromelic frontonasal dysostosis,TRUE,FALSE,Active +GARD:5540,Legacy,GARD,,,,,,,,,,,,Watson syndrome,TRUE,FALSE,Retired +GARD:5543,Legacy,GARD,,,,,,,,,,,,Weaver Johnson syndrome,TRUE,FALSE,Retired +GARD:5544,Legacy,GARD,,,,,,,,,,,,Weaver like syndrome,TRUE,FALSE,Retired +GARD:5545,Active,Orphanet,ORPHA:3448,Disorder,[Malformation syndrome],Weaver-Williams syndrome,,"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.",,,,,,Weaver Williams syndrome,TRUE,FALSE,Active +GARD:555,Active,Orphanet,ORPHA:95702,Disorder,[Disease],X-linked adrenal hypoplasia congenita,"[X-linked AHC, X-linked congenital adrenal hypoplasia]","A rare genetic adrenal disease characterized by primary adrenal insufficiency (AI) and/or hypogonadotropic hypogonadism (HH). Male patients typically present with AI with acute onset in infancy or insidious onset in childhood. Clinical features of AI include hyperpigmentation, vomiting, poor feeding, failure to thrive, seizures, vascular collapse, and sometimes sudden death. HH manifests later as delayed or arrested puberty. In rare cases, patients become symptomatic in early adulthood with delayed-onset AI, partial HH, and/or infertility. Histologically, the adrenal glands lack the permanent adult cortical zone. The remaining cells are larger than fetal adrenal cells (''cytomegalic'') and contain characteristic nuclear inclusions.","[202155, 300200]",,,,,X-linked adrenal hypoplasia congenita,TRUE,FALSE,Active +GARD:5552,Active,Orphanet,ORPHA:603,Disorder,[Disease],"Distal myopathy, Welander type",[WDM],"A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.",[604454],,,,,"Welander distal myopathy, Swedish type",TRUE,FALSE,Active +GARD:5553,Legacy,GARD,,,,,,,,,,,,Weleber Hecht Bigley syndrome,TRUE,FALSE,Retired +GARD:5554,Active,Orphanet,ORPHA:1373,Disorder,[Malformation syndrome],Cataract-aberrant oral frenula-growth delay syndrome,[Wellesley-Carman-French syndrome],"Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.",[115645],,,,,Wellesley Carmen French syndrome,TRUE,FALSE,Active +GARD:5555,Active,Orphanet,ORPHA:2815,Disorder,[Malformation syndrome],Spastic paraparesis-deafness syndrome,"[Spastic paraparesis-hearing loss syndrome, Wells-Jankovic syndrome]","A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.",[312910],,,,,Wells-Jankovic syndrome,TRUE,FALSE,Active +GARD:5557,Legacy,GARD,,,,,,,,,,,,Westphal disease,TRUE,FALSE,Retired +GARD:5558,Legacy,GARD,,,,,,,,,,,,Whitaker syndrome,TRUE,FALSE,Retired +GARD:5560,Active,Orphanet,ORPHA:3207,Disorder,[Malformation syndrome],White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,[Curatolo-Cilio-Pessagno syndrome],"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.",,,,,,White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,TRUE,FALSE,Active +GARD:5562,Active,Orphanet,ORPHA:2779,Disorder,[Malformation syndrome],Osteopathia striata-pigmentary dermopathy-white forelock syndrome,[Whyte-Murphy syndrome],"A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.",,,,,,Osteopathia striata with pigmentary dermopathy including white forelock,TRUE,FALSE,Active +GARD:5565,Active,Orphanet,ORPHA:319182,Disorder,[Malformation syndrome],Wiedemann-Steiner syndrome,[Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome],"A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability.",[605130],,,,,Wiedemann-Steiner syndrome,TRUE,FALSE,Active +GARD:5566,Legacy,GARD,,,,,,,,,,,,Wiedemann Oldigs Oppermann syndrome,TRUE,FALSE,Active +GARD:5567,Legacy,GARD,,,,,,,,,,,,Wiedemann Opitz syndrome,TRUE,FALSE,Retired +GARD:5569,Active,Orphanet,ORPHA:3456,Disorder,[Malformation syndrome],Wildervanck syndrome,[Cervicooculoacoustic syndrome],"Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness.",[314600],,,,,Wildervanck syndrome,TRUE,FALSE,Active +GARD:5570,Legacy,GARD,,,,,,,,,,,,Wilkes Stevenson syndrome,TRUE,FALSE,Retired +GARD:5573,Active,Orphanet,ORPHA:99147,Disorder,[Disease],Acquired von Willebrand syndrome,[Acquired von Willebrand disease],"A rare bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.",,,,,,Acquired Von Willebrand syndrome,TRUE,FALSE,Active +GARD:5574,Legacy,GARD,,,,,,,,,,,,Willems De vries syndrome,TRUE,FALSE,Retired +GARD:5575,Active,Orphanet,ORPHA:739,Disorder,[Disease],Prader-Willi syndrome,[Prader-Labhart-Willi syndrome],"A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.","[176270, 615547]",,,,,Prader-Willi syndrome,TRUE,FALSE,Active +GARD:5576,Active,Orphanet,ORPHA:220,Disorder,[Disease],Denys-Drash syndrome,"[Drash syndrome, Wilms tumor-DSD syndrome, Wilms tumor-disorder of sex development syndrome]","A rare genetic, syndromic glomerular disorder characterized by the association of nephropathy presenting as persistent proteinuria or overt nephrotic syndrome, Wilms tumor and genitourinary structural defects. In addition, disorders of testicular development are common in subjects with 46,XY karyotype.",[194080],,,,,Denys-Drash syndrome,TRUE,FALSE,Active +GARD:5578,Legacy,GARD,,,,,,,,,,,,Wilms tumor and radial bilateral aplasia,TRUE,FALSE,Active +GARD:5579,Active,Orphanet,ORPHA:3459,Disorder,[Malformation syndrome],Wilson-Turner syndrome,"[WTS, X-linked intellectual disability-gynecomastia-obesity syndrome]","Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.",[309585],,,,,Wilson-Turner syndrome,TRUE,FALSE,Active +GARD:558,Active,Orphanet,ORPHA:1501,Disorder,[Disease],Adrenocortical carcinoma,,A rare cancer that arises from the adrenal cortex.,[202300],,,,,Adrenocortical carcinoma,TRUE,FALSE,Active +GARD:5580,Legacy,GARD,,,,,,,,,,,,Winkelman Bethge Pfeiffer syndrome,TRUE,FALSE,Retired +GARD:5583,Legacy,GARD,,,,,,,,,,,,Winter Harding Hyde syndrome,TRUE,FALSE,Active +GARD:5584,Active,Orphanet,ORPHA:1553,Disorder,[Malformation syndrome],Curry-Jones syndrome,[Corpus callosum agenesis-polysyndactyly syndrome],"Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.",[601707],,,,,Curry Jones syndrome,TRUE,FALSE,Active +GARD:5585,Legacy,GARD,,,,,,,,,,,,Wisconsin syndrome,TRUE,FALSE,Active +GARD:5587,Active,Orphanet,ORPHA:2228,Disorder,[Malformation syndrome],Hypodontia-dysplasia of nails syndrome,"[Hypodontia-nail dysgenesis syndrome, Tooth and nail syndrome, Witkop syndrome]",Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.,[189500],,,,,Witkop syndrome,TRUE,FALSE,Active +GARD:5589,Active,Orphanet,ORPHA:1667,Disorder,[Disease],Wolcott-Rallison syndrome,"[Early-onset diabetes mellitus with multiple epiphyseal dysplasia, WRS]","Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.",[226980],,,,,Epiphyseal dysplasia multiple with early-onset diabetes mellitus,TRUE,FALSE,Active +GARD:559,Active,Orphanet,ORPHA:44,Disorder,[Disease],Neonatal adrenoleukodystrophy,"[Intermediate PBD-ZSD, Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder, NALD]","A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).","[614867, 614885, 601539, 266510, 614871, 617370, 614873, 202370, 614877, 614920, 614863]",,,,,Neonatal adrenoleukodystrophy,TRUE,FALSE,Active +GARD:5592,Active,Orphanet,ORPHA:3464,Disorder,[Disease],Woodhouse-Sakati syndrome,"[Diabetes-hypogonadism-deafness-intellectual disability syndrome, Diabetes-hypogonadism-hearing loss-intellectual disability syndrome]","Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.",[241080],,,,,Woodhouse Sakati syndrome,TRUE,FALSE,Active +GARD:5593,Active,Orphanet+OMIM,OMIM:600546,Subtype of disorder,[Malformation syndrome subtype],Intrauterine growth retardation with increased mitomycin c sensitivity,,"{4:Woods et al. (1995)} reported the case of an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. Seckel syndrome was the initial diagnosis. The infant became pancytopenic at 16 months of age and died soon thereafter. His bone marrow was of normal cellularity but had an infiltration of small lymphocytes. Increased spontaneous chromosome breakage was seen in blood and fibroblasts. Mitomycin C-induced chromosome damage was increased and comparable to that seen in Fanconi anemia. {4:Woods et al. (1995)} proposed that this infant suffered from a distinct chromosome breakage syndrome. They found at least 7 reported cases of Seckel-like intrauterine growth retardation with pancytopenia, including 2 sibs in Seckel's original publication ({2:Seckel, 1960}). Other cases were reported by {3:Upjohn (1955)} and {1:Butler et al. (1987)}. Because Seckel syndrome is likely to be heterogeneous, {4:Woods et al. (1995)} preferred to refer to the disorder they reported as 'severe intrauterine growth retardation with increased mitomycin C sensitivity.'",[600546],[808],[Seckel syndrome],[8562],,Intrauterine growth retardation with increased mitomycin C sensitivity,TRUE,FALSE,Active +GARD:5594,Legacy,GARD,,,,,,,,,,,,Woolly hair hypotrichosis everted lower lip and outstanding ears,TRUE,FALSE,Active +GARD:5595,Active,Orphanet,ORPHA:65282,Disorder,[Disease],Carvajal syndrome,"[KWWH type II, Keratoderma with woolly hair type II, Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome, Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome, Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome, Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome]","A syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.","[615821, 605676]",,,,,Cardiomyopathy dilated with woolly hair and keratoderma,TRUE,FALSE,Active +GARD:5597,Active,Orphanet,ORPHA:170,Disorder,[Disease],Woolly hair,"[Familial woolly hair syndrome, Familial wooly hair syndrome, Hereditary woolly hair syndrome, Hereditary wooly hair syndrome, Wooly hair]",A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.,"[194300, 604379, 615896, 616760, 278150]",,,,,Woolly hair syndrome,TRUE,FALSE,Active +GARD:5598,Active,Orphanet,ORPHA:3465,Disorder,[Malformation syndrome],Worster-Drought syndrome,[Congenital suprabulbar paresis],"Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.",[185480],,,,,Worster Drought syndrome,TRUE,FALSE,Active +GARD:5599,Legacy,GARD,,,,,,,,,,,,Wright Dyck syndrome,FALSE,FALSE,Retired +GARD:5604,Legacy,GARD,,,,,,,,,,,,"X-linked intellectual disability, Turner type",TRUE,FALSE,Active +GARD:5606,Legacy,GARD,,,,,,,,,,,,X-linked mental retardation craniofacial abnormal microcephaly club,TRUE,FALSE,Retired +GARD:5607,Legacy,GARD,,,,,,,,,,,,X-linked mental retardation De silva type,TRUE,FALSE,Retired +GARD:5610,Legacy,GARD,,,,,,,,,,,,Brooks Wisniewski Brown syndrome,TRUE,FALSE,Active +GARD:5611,Active,Orphanet,ORPHA:3078,Disorder,[Malformation syndrome],"Severe X-linked intellectual disability, Gustavson type",,"A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.",[309555],,,,,"Severe X-linked intellectual disability, Gustavson type",TRUE,FALSE,Active +GARD:5612,Legacy,GARD,,,,,,,,,,,,X-linked mental retardation type Martinez,TRUE,FALSE,Retired +GARD:5613,Active,Orphanet+OMIM,OMIM:300387,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 63","[mental retardation, x-linked 68, Mental retardation, x-linked 63]",,[300387],[777],[X-linked non-syndromic intellectual disability],[18640],,ACSL4-related intellectual disability,TRUE,FALSE,Active +GARD:5614,Active,Orphanet+OMIM,OMIM:300419,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 29","[mental retardation, x-linked 32, mental retardation, x-linked 76, mental retardation, x-linked 38, mental retardation, x-linked 87, Mental retardation, x-linked 29, mental retardation, x-linked 43, mental retardation, x-linked 54, mental retardation, x-linked 33, mental retardation, x-linked 52]","Intellectual developmental disorder-29 (XLID29) is a nonspecific form of XLID. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; {300215}) to Proud syndrome ({300004}) to infantile spasms without brain malformations (DEE1; {308350}) to Partington syndrome ({309510}) ({8:Kato et al., 2004}; {13:Wallerstein et al., 2008}).",[300419],[777],[X-linked non-syndromic intellectual disability],[18640],,ARX-related intellectual disability,TRUE,FALSE,Active +GARD:5615,Active,Orphanet,ORPHA:3063,Disorder,[Disease],"X-linked intellectual disability, Snyder type",[Snyder-Robinson syndrome],"X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.",[309583],,,,,Snyder-Robinson syndrome,TRUE,FALSE,Active +GARD:5616,Legacy,GARD,,,,,,,,,,,,X-linked mental retardation type Wittwer,TRUE,FALSE,Retired +GARD:5617,Active,Orphanet,ORPHA:59,Disorder,[Disease],Allan-Herndon-Dudley syndrome,"[AHDS, MCT8 deficiency, Monocarboxylate transporter 8 deficiency, X-linked intellectual disability-hypotonia syndrome]","An X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.",[300523],,,,,Allan-Herndon-Dudley syndrome,TRUE,FALSE,Active +GARD:5618,Active,Orphanet,ORPHA:276,Disorder,[Disease],T-B+ severe combined immunodeficiency due to gamma chain deficiency,"[SCIDX1, T-B+ SCID due to gamma chain deficiency, T-B+ severe combined immunodeficiency, X-linked]","Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.",[300400],,,,,X-linked severe combined immunodeficiency,TRUE,FALSE,Active +GARD:562,Active,Orphanet,ORPHA:977,Disorder,[Disease],Adrenomyodystrophy,,"An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.",[300270],,,,,Adrenomyodystrophy,TRUE,FALSE,Active +GARD:5620,Active,Orphanet,ORPHA:93602,Subtype of disorder,[Etiological subtype],Xanthinuria type II,"[XDH and AOX dual deficiency, Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency]","Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.",[603592],,,,,Xanthinuria type 2,TRUE,FALSE,Active +GARD:5621,Active,Orphanet,ORPHA:93601,Subtype of disorder,[Etiological subtype],Xanthinuria type I,"[XDH deficiency, XO deficiency, XOR deficiency, Xanthine dehydrogenase deficiency, Xanthine oxidase deficiency, Xanthine oxidoreductase deficiency]","Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.",[278300],,,,,Xanthinuria type 1,TRUE,FALSE,Active +GARD:5622,Active,Orphanet,ORPHA:909,Disorder,[Disease],Cerebrotendinous xanthomatosis,"[CTX, Sterol 27-hydroxylase deficiency]","Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.",[213700],,,,,Cerebrotendinous xanthomatosis,TRUE,FALSE,Active +GARD:5623,Active,Orphanet,ORPHA:3202,Disorder,[Disease],Dehydrated hereditary stomatocytosis,[Hereditary xerocytosis],"Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.","[616689, 194380]",,,,,Dehydrated hereditary stomatocytosis,TRUE,FALSE,Active +GARD:5624,Active,Orphanet+OMIM,OMIM:278700,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group a","[xeroderma pigmentosum i, Xp, group a]","Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome ({278800}) ({41:Satokata et al., 1992}).\n\nSee also XPB ({610651}), XPC ({278720}), XPD ({278730}), XPE ({278740}), XPF ({278760}), XPG ({278780}), and variant XP (XPV; {278750}).",[278700],[910],[Xeroderma pigmentosum],[7910],,"Xeroderma pigmentosum, type 1",TRUE,FALSE,Retired +GARD:5625,Active,Orphanet+OMIM,OMIM:610651,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group b","[Xp, group b]","For a general discussion of xeroderma pigmentosum, see XPA ({278700}), and of Cockayne syndrome, see CSA ({216400}).\n\n{1:Cleaver (1990)} provided a review of the causes of xeroderma pigmentosum.",[610651],"[220295, 910]","[Xeroderma pigmentosum, Xeroderma pigmentosum-Cockayne syndrome complex]","[7910, 17130]",,"Xeroderma pigmentosum, type 2",TRUE,FALSE,Retired +GARD:5626,Active,Orphanet+OMIM,OMIM:278720,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group c","[xeroderma pigmentosum iii, Xpcc, xp, group c]","Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by {12:Li et al., 1993}).\n\nFor a general discussion of xeroderma pigmentosum, see XPA ({278700}).",[278720],[910],[Xeroderma pigmentosum],[7910],,"Xeroderma pigmentosum, type 3",TRUE,FALSE,Retired +GARD:5627,Active,Orphanet+OMIM,OMIM:278740,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group e","[xp, group e, xeroderma pigmentosum v, Xpe]",,[278740],[910],[Xeroderma pigmentosum],[7910],,"Xeroderma pigmentosum, type 5",TRUE,FALSE,Retired +GARD:5628,Active,Orphanet+OMIM,OMIM:278760,Subtype of disorder,[Disease subtype],"Xeroderma pigmentosum, complementation group f","[Xp, group f, xeroderma pigmentosum vi]","Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by {4:Kashiyama et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA ({278700}), and of Cockayne syndrome, see CSA ({216400}).",[278760],"[220295, 910]","[Xeroderma pigmentosum, Xeroderma pigmentosum-Cockayne syndrome complex]","[7910, 17130]",,"Xeroderma pigmentosum, type 6",TRUE,FALSE,Retired +GARD:5629,Active,Orphanet+OMIM,OMIM:278780,Subtype of disorder,"[Clinical subtype, Disease subtype]","Xeroderma pigmentosum, complementation group g","[Xp, group g, xeroderma pigmentosum vii]","For a general description of xeroderma pigmentosum, see XPA ({278700}), and of Cockayne syndrome, see CSA ({216400}). Complementation group G has one of the smallest series of cases ({1:Arlett et al., 1980}).",[278780],"[220295, 1466, 910]","[Xeroderma pigmentosum, COFS syndrome, Xeroderma pigmentosum-Cockayne syndrome complex]","[7910, 6027, 17130]",,Xeroderma pigmentosum type 7,TRUE,FALSE,Retired +GARD:563,Legacy,GARD,,,,,,,,,,,,Idiopathic neutropenia,FALSE,FALSE,Active +GARD:5630,Active,Orphanet,ORPHA:90342,Disorder,[Disease],Xeroderma pigmentosum variant,[XPV],"Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.",[278750],,,,,"Xeroderma pigmentosum, variant type",TRUE,FALSE,Active +GARD:5631,Legacy,GARD,,,,,,,,,,,,Xeroderma talipes enamel defects,TRUE,FALSE,Retired +GARD:564,Active,Orphanet,ORPHA:83420,Subtype of disorder,[Clinical subtype],Proximal spinal muscular atrophy type 4,"[SMA type 4, SMA type IV, SMA-IV, SMA4, Spinal muscular atrophy, adult form]","A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with adult onset, slowly progressive, mild proximal muscle weakness.",[271150],,,,,Spinal muscular atrophy type 4,TRUE,FALSE,Active +GARD:5642,Active,Orphanet,ORPHA:916,Disorder,[Malformation syndrome],Aase-Smith syndrome,"[Aase-Smith I syndrome, Hydrocephalus-cleft palate-joint contractures syndrome]","A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.",[147800],,,,,Hydrocephalus-cleft palate-joint contractures syndrome,TRUE,FALSE,Active +GARD:5643,Active,Orphanet,ORPHA:101,Disorder,[Disease],Dentatorubral pallidoluysian atrophy,"[DRPLA, Dentatorubropallidoluysian atrophy, Naito-Oyanagi disease]","A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.",[125370],,,,,Dentatorubral-pallidoluysian atrophy,TRUE,FALSE,Active +GARD:5644,Active,Orphanet+OMIM,OMIM:601154,Subtype of disorder,[Disease subtype],"Cardiomyopathy, dilated, 1e","[Cardiomyopathy, dilated, with conduction disorder and arrhythmia, cardiomyopathy, dilated, with conduction defect 2]",,[601154],[154],[Familial isolated dilated cardiomyopathy],[2905],,Dilated cardiomyopathy 1E,TRUE,FALSE,Active +GARD:5648,Active,Orphanet,ORPHA:166409,Disorder,[Disease],Photosensitive epilepsy,,"A rare reflex epilepsy characterized by seizures and photoparoxysmal responses triggered by flashing or flickering lights, or patterns. Exact nature of the stimulus and seizure type are variable. The disorder mainly presents in childhood and adolescence and can either occur as an isolated condition, or be associated to other epilepsy syndromes.","[609572, 609573, 132100]",,,,,Photosensitive epilepsy,TRUE,FALSE,Active +GARD:5651,Legacy,GARD,,,,,,,,,,,,Polymorphous low-grade adenocarcinoma,TRUE,FALSE,Active +GARD:5653,Active,Orphanet,ORPHA:251576,Subtype of disorder,[Histopathological subtype],Gliosarcoma,,,,,,,,Gliosarcoma,TRUE,FALSE,Active +GARD:5654,Active,Orphanet,ORPHA:163699,Disorder,[Disease],Alveolar soft tissue sarcoma,"[ASPS, Alveolar soft part sarcoma]","A rare soft tissue sarcoma characterized by a slowly growing, painless space-occupying lesion, composed of large, uniform, epithelioid cells arranged in solid nests and/or alveolar structures, separated by thin, sinusoidal vessels. The tumor mostly affects adolescents and young adults. Early metastasis, most commonly to the lung, bones, and brain, is a characteristic feature and relevant prognostic factor, together with age at presentation and tumor size, while histological features have no prognostic significance.",[606243],,,,,Alveolar soft part sarcoma,TRUE,FALSE,Active +GARD:5657,Active,Orphanet,ORPHA:42642,Disorder,[Disease],PFAPA syndrome,"[Marshall syndrome with periodic fever, Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome]","PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.",,,,,,"Periodic fever, aphthous stomatitis, pharyngitis and adenitis",TRUE,FALSE,Active +GARD:5658,Active,Orphanet,ORPHA:90795,Disorder,[Disease],Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,"[CAH due to 11-beta-hydroxylase deficiency, CYP11B1 deficiency]","A rare form of classic congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.",[202010],,,,,11-beta-hydroxylase deficiency,TRUE,FALSE,Active +GARD:5659,Active,Orphanet,ORPHA:752,Disorder,[Disease],"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","[17-beta-hydroxysteroid dehydrogenase 3 deficiency, 17-ketoreductase deficiency, 17-ketosteroidreductase deficiency]","17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.",[264300],,,,,17-beta hydroxysteroid dehydrogenase 3 deficiency,TRUE,FALSE,Active +GARD:5660,Legacy,GARD,,,,,,,,,,,,18 Hydroxylase deficiency,TRUE,FALSE,Active +GARD:5661,Active,Orphanet,ORPHA:79315,Disorder,[Disease],D-2-hydroxyglutaric aciduria,"[D-2-HGA, D-2-hydroxyglutaric acidemia]","D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.","[600721, 613657]",,,,,D-2-hydroxyglutaric aciduria,TRUE,FALSE,Active +GARD:5662,Active,Orphanet,ORPHA:939,Disorder,[Disease],3-hydroxyisobutyric aciduria,,"A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described.",[236795],,,,,3-Hydroxyisobutyric aciduria,TRUE,FALSE,Active +GARD:5663,Active,Orphanet,ORPHA:67047,Disorder,[Disease],3-methylglutaconic aciduria type 3,"[Autosomal recessive optic atrophy plus syndrome, Autosomal recessive optic atrophy type 3, Costeff optic atrophy syndrome, Costeff syndrome, Infantile optic atrophy with chorea and spastic paraplegia, MGA3]",3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.,[258501],,,,,OPA3 defect,TRUE,FALSE,Active +GARD:5665,Active,Orphanet+OMIM,OMIM:210200,Subtype of disorder,[Disease subtype],3-methylcrotonyl-coa carboxylase 1 deficiency,"[mcc1 deficiency, methylcrotonylglycinuria type i, Mccd type 1, 3-methylcrotonylglycinuria i]",,[210200],[6],[3-methylcrotonyl-CoA carboxylase deficiency],[10954],,3 Methylcrotonyl-CoA carboxylase 1 deficiency,TRUE,FALSE,Retired +GARD:5666,Active,Orphanet,ORPHA:7,Disorder,[Malformation syndrome],3C syndrome,"[Craniocerebellocardiac dysplasia, Ritscher-Schinzel syndrome]","Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).","[300963, 619135, 220210]",,,,,Dandy-Walker like malformation with atrioventricular septal defect,TRUE,FALSE,Active +GARD:5667,Active,Orphanet,ORPHA:2616,Disorder,[Malformation syndrome],3M syndrome,"[3-M syndrome, Yakut short stature syndrome]","A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.","[273750, 612921, 614205]",,,,,3M syndrome,TRUE,FALSE,Active +GARD:5668,Active,Orphanet,ORPHA:2118,Disorder,[Disease],Hawkinsinuria,"[4-HPPD deficiency, 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency, 4-hydroxyphenylpyruvic acid dioxygenase deficiency]","Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.",[140350],,,,,Hawkinsinuria,TRUE,FALSE,Active +GARD:5671,Active,Orphanet,ORPHA:243,Disorder,[Malformation syndrome],"46,XX gonadal dysgenesis","[46,XX complete gonadal dysgenesis, 46,XX ovarian dysgenesis, 46,XX pure gonadal dysgenesis, FSH-RO, Follicular stimulating hormone-resistant ovaries, Hypergonadotropic ovarian dysgenesis, XX female gonadal dysgenesis, XX-GD]","46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.","[618723, 300510, 614324, 233300, 618117, 618078]",,,,,"46,XX Gonadal dysgenesis epibulbar dermoid",TRUE,FALSE,Active +GARD:5672,Active,Orphanet,ORPHA:3375,Disorder,[Malformation syndrome],Trisomy X,"[47,XXX syndrome, Triple X syndrome, Triplo-X syndrome, XXX syndrome]","Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).",,,,,,47 XXX syndrome,TRUE,FALSE,Active +GARD:5674,Active,Orphanet,ORPHA:8,Disorder,[Malformation syndrome],"47,XYY syndrome","[Double Y syndrome, XYY syndrome, Y disomy]","A rare sex chromosome aneuploidy where males receive an additional Y chromosome, that is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.",,,,,,"47, XYY syndrome",TRUE,FALSE,Active +GARD:5676,Active,Orphanet,ORPHA:96263,Disorder,[Malformation syndrome],"48,XXXY syndrome",,"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.",,,,,,"48,XXXY syndrome",TRUE,FALSE,Active +GARD:5677,Active,Orphanet,ORPHA:10,Disorder,[Malformation syndrome],"48,XXYY syndrome",,"A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.",,,,,,"48,XXYY syndrome",TRUE,FALSE,Active +GARD:5678,Active,Orphanet,ORPHA:11,Disorder,[Malformation syndrome],Pentasomy X,"[49,XXXXX syndrome, Penta-X, Poly-X]","Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).",,,,,,"49,XXXXX syndrome",TRUE,FALSE,Active +GARD:5679,Active,Orphanet,ORPHA:96264,Disorder,[Malformation syndrome],"49,XXXXY syndrome",,"The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.",,,,,,"49, XXXXY syndrome",TRUE,FALSE,Active +GARD:5680,Active,Orphanet,ORPHA:753,Disorder,[Disease],"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency","[46,XY DSD due to 5-alpha-reductase 2 deficiency, Pseudovaginal perineoscrotal hypospadias, Steroid 5-alpha-reductase 2 deficiency]",A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.,[264600],,,,,5-alpha reductase deficiency,TRUE,FALSE,Active +GARD:5681,Active,Orphanet,ORPHA:33572,Disorder,[Disease],5-oxoprolinase deficiency,[Oxoprolinuria due to oxoprolinase deficiency],A very heterogeneous condition characterized by 5-oxoprolinuria.,[260005],,,,,5-oxoprolinase deficiency,TRUE,FALSE,Active +GARD:5682,Active,Orphanet,ORPHA:13,Subtype of disorder,[Clinical subtype],6-pyruvoyl-tetrahydropterin synthase deficiency,[Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency],"6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.",[261640],,,,,6-pyruvoyl-tetrahydropterin synthase deficiency,TRUE,FALSE,Active +GARD:5683,Active,Orphanet,ORPHA:818,Disorder,[Malformation syndrome],Smith-Lemli-Opitz syndrome,"[7-dehydrocholesterol reductase deficiency, RSH syndrome, SLOS]","Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.",[270400],,,,,Smith-Lemli-Opitz syndrome,TRUE,FALSE,Active +GARD:5686,Active,Orphanet,ORPHA:371,Disorder,[Disease],Glycogen storage disease due to muscle phosphofructokinase deficiency,"[GSD due to muscle phosphofructokinase deficiency, GSD type 7, GSD type VII, Glycogen storage disease type 7, Glycogen storage disease type VII, Glycogenosis due to muscle phosphofructokinase deficiency, Glycogenosis type 7, Glycogenosis type VII, Tarui disease]","Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.",[232800],,,,,Glycogen storage disease type 7,TRUE,FALSE,Active +GARD:5688,Active,Orphanet,ORPHA:1777,Disorder,[Malformation syndrome],Temtamy syndrome,"[Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome, Temtamy-Shalash syndrome]","A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.",[218340],,,,,Temtamy syndrome,TRUE,FALSE,Active +GARD:5690,Legacy,GARD,,,,,,,,,,,,Rapp-Hodgkin syndrome,TRUE,FALSE,Retired +GARD:5691,Active,Orphanet,ORPHA:773,Disorder,[Disease],Refsum disease,"[Adult Refsum disease, Classic Refsum disease, HMSN 4, HMSN IV, Hereditary motor and sensory neuropathy type 4, Hereditary motor and sensory neuropathy type IV, Heredopathia atactica polyneuritiformis, Phytanic-CoA hydroxylase deficiency]","A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.","[266500, 614879]",,,,,Refsum disease,TRUE,FALSE,Active +GARD:5692,Active,Orphanet,ORPHA:90797,Disorder,[Disease],Partial androgen insensitivity syndrome,"[PAIS, Partial androgen resistance syndrome]","A disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.",[312300],,,,,Partial androgen insensitivity syndrome,TRUE,FALSE,Active +GARD:5693,Active,Orphanet,ORPHA:29207,Disorder,[Disease],Reactive arthritis,"[Arthritis urethritica, Fiessinger-Leroy disease, Polyarthritis enterica, Venereal arthritis]","A rare spondyloarthritis characterized by acute or chronic sterile synovitis with or without extra-articular manifestations, becoming manifest after an infection.",,,,,,Reactive arthritis,TRUE,FALSE,Active +GARD:5694,Active,Orphanet,ORPHA:791,Disorder,[Disease],Retinitis pigmentosa,,Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.,"[616544, 609923, 617023, 613575, 613750, 604393, 312600, 612095, 613794, 602594, 617781, 615922, 611131, 614181, 613767, 614500, 609913, 180210, 180100, 300155, 613769, 613617, 300605, 601414, 612572, 300424, 180104, 613582, 613809, 608133, 615233, 618173, 613861, 600852, 610282, 400004, 614494, 601718, 613428, 602772, 610359, 606068, 612943, 600138, 612712, 618613, 613801, 600059, 607921, 615725, 600132, 614180, 180105, 300029, 616562, 600105, 268060, 613341, 613464, 268025, 613660, 612165, 604232, 610599, 615565, 615434, 268000, 618955, 618345, 617460, 613758, 613983, 619007, 613810, 616394, 618826, 608380, 618195, 613862, 617433, 613731, 613194, 618697, 616469, 617304, 613581, 312612, 613827, 615780, 617123, 618220, 613756, 616188]",,,,,Retinitis pigmentosa,TRUE,FALSE,Active +GARD:5695,Active,Orphanet,ORPHA:90050,Disorder,[Disease],Retinopathy of prematurity,"[ROP, Retrolental fibroplasia]","A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.",[133780],,,,,Retinopathy of prematurity,TRUE,FALSE,Active +GARD:5696,Active,Orphanet,ORPHA:778,Disorder,[Disease],Rett syndrome,,"A rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression in infancy, partial or complete loss of purposeful hand movements, loss of speech, gait abnormalities, and stereotypic hand movements, commonly associated with deceleration of head growth, severe intellectual disability, seizures, and breathing abnormalities. The disorder has a progressive clinical course and may associate various comorbidities including gastrointestinal diseases, scoliosis, and behavioral disorders.",[312750],,,,,Rett syndrome,TRUE,FALSE,Active +GARD:5697,Active,Orphanet+OMIM,OMIM:228800,Subtype of disorder,[Clinical subtype],"Fibrosclerosis, multifocal","[Mediastinal fibrosis, familial, retroperitoneal fibrosis, familial]","{1:Comings et al. (1967)} reported 2 brothers, offspring of a first-cousin marriage, who had different combinations of retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel sclerosing thyroiditis, and pseudotumor of the orbit. One of the brothers had fibrotic contracture of the fingers. {2:Goldbach et al. (1983)} reported mediastinal and retroperitoneal fibrosis in 2 sisters with seronegative spondylarthropathy. Neither was HLA-B27-positive. {3:Phills et al. (1973)} reported retroperitoneal fibrosis in 3 sibs. {4:Zabetakis et al. (1979)} raised the possibility that retroperitoneal fibrosis is a manifestation of a collagen vascular disease.",[228800],[49041],[IgG4-related retroperitoneal fibrosis],[9568],,Multifocal fibrosclerosis,TRUE,FALSE,Active +GARD:5698,Legacy,GARD,,,,,,,,,,,,Acute respiratory distress syndrome,TRUE,FALSE,Active +GARD:5699,Active,Orphanet,ORPHA:3099,Disorder,[Disease],Rheumatic fever,[Acute rheumatic fever],"Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.",[268240],,,,,Rheumatic Fever,TRUE,FALSE,Active +GARD:5700,Legacy,GARD,,,,,,,,,,,,Rickets,TRUE,FALSE,Active +GARD:5701,Active,Orphanet,ORPHA:782,Disorder,[Malformation syndrome],Axenfeld-Rieger syndrome,"[Axenfeld syndrome, Rieger syndrome]","Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.","[601499, 180500, 602482]",,,,,Axenfeld-Rieger syndrome,TRUE,FALSE,Active +GARD:5706,Legacy,GARD,,,,,,,,,,,,Aberrant subclavian artery,TRUE,FALSE,Active +GARD:5707,Legacy,GARD,,,,,,,,,,,,Absent T lymphocytes,TRUE,FALSE,Retired +GARD:5708,Active,Orphanet,ORPHA:930,Disorder,[Disease],Idiopathic achalasia,"[Achalasia cardia, Idiopathic achalasia of esophagus, Primary achalasia]",Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.,[200400],,,,,Idiopathic achalasia,TRUE,FALSE,Active +GARD:5709,Legacy,GARD,,,,,,,,,,,,Achard Thiers syndrome,TRUE,FALSE,Active +GARD:5714,Active,Orphanet,ORPHA:365,Disorder,[Disease],Glycogen storage disease due to acid maltase deficiency,"[Alpha-1,4-glucosidase acid deficiency, GSD due to acid maltase deficiency, GSD type 2, GSD type II, Glycogen storage disease type 2, Glycogen storage disease type II, Glycogenosis due to acid maltase deficiency, Glycogenosis type 2, Glycogenosis type II, Pompe disease]","A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency.",[232300],,,,,Glycogen storage disease type 2,TRUE,FALSE,Active +GARD:5717,Legacy,GARD,,,,,,,,,,,,Acquired agranulocytosis,TRUE,FALSE,Active +GARD:572,Legacy,GARD,,,,,,,,,,,,Agyria pachygyria polymicrogyria,TRUE,FALSE,Active +GARD:5721,Active,Orphanet,ORPHA:36,Disorder,[Malformation syndrome],Acrocallosal syndrome,[ACS],"A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.",[200990],,,,,"Acrocallosal syndrome, Schinzel type",TRUE,FALSE,Active +GARD:5722,Legacy,GARD,,,,,,,,,,,,Acrodermatitis,TRUE,FALSE,Active +GARD:5723,Active,Orphanet,ORPHA:37,Disorder,[Disease],Acrodermatitis enteropathica,"[AEZ, Acrodermatitis enteropathica, zinc deficiency type, Inherited zinc deficiency]","A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.",[201100],,,,,Acrodermatitis enteropathica,TRUE,FALSE,Active +GARD:5724,Active,Orphanet,ORPHA:950,Disorder,[Malformation syndrome],Acrodysostosis,"[Acrodysplasia, Arkless-Graham syndrome, Maroteaux-Malamut syndrome]","An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.","[614613, 101800]",,,,,Acrodysostosis,TRUE,FALSE,Active +GARD:5725,Active,Orphanet,ORPHA:963,Disorder,[Disease],Acromegaly,,A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.,"[300943, 102200]",,,,,Acromegaly,TRUE,FALSE,Active +GARD:5726,Legacy,GARD,,,,,,,,,,,,Acrospiroma,TRUE,FALSE,Active +GARD:5727,Active,Orphanet,ORPHA:199296,Disorder,[Disease],Congenital isolated ACTH deficiency,,"A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.",[201400],,,,,Isolated ACTH deficiency,TRUE,FALSE,Active +GARD:5728,Active,Orphanet,ORPHA:457095,Disorder,[Disease],Actinomycosis,,"A rare bacterial infectious disease characterized by a chronic granulomatous infection by Actinomyces species which are commensals in the human gastrointestinal and urogenital tract and oropharynx. Corresponding to the affected site, the disease presents as cervicofacial, respiratory tract, genitourinary tract, digestive tract, central nervous system, or cutaneous actinomycosis and leads to the formation of abscesses and fistulae in the respective region.",,,,,,Actinomycosis,TRUE,FALSE,Active +GARD:573,Legacy,GARD,,,,,,,,,,,,Agyria-pachygyria type 1,TRUE,FALSE,Active +GARD:5730,Legacy,GARD,,,,,,,,,,,,Acute mountain sickness,TRUE,FALSE,Active +GARD:5732,Active,Orphanet,ORPHA:79276,Disorder,[Disease],Acute intermittent porphyria,,"A rare, severe form of the acute hepatic porphyrias characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.",[176000],,,,,Acute intermittent porphyria,TRUE,FALSE,Active +GARD:5734,Legacy,GARD,,,,,,,,,,,,Acute myelocytic leukemia,TRUE,FALSE,Retired +GARD:5736,Legacy,GARD,,,,,,,,,,,,Acute necrotizing ulcerative gingivitis,TRUE,FALSE,Active +GARD:5739,Active,Orphanet,ORPHA:974,Disorder,[Malformation syndrome],Adams-Oliver syndrome,"[AOS, Congenital scalp defects with distal limb anomalies, Congenital scalp defects with distal limb reduction anomalies, Limb, scalp and skull defects]","A rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.","[616028, 615297, 616589, 100300, 614814, 614219]",,,,,Adams-Oliver syndrome,TRUE,FALSE,Active +GARD:5740,Active,Orphanet,ORPHA:85138,Disorder,[Disease],Addison disease,"[Autoimmune Addison disease, Autoimmune adrenalitis, Classic Addison disease, Primary Addison disease]","A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).","[240200, 103230]",,,,,Addison's disease,TRUE,FALSE,Active +GARD:5741,Legacy,GARD,,,,,,,,,,,,Adenocarcinoid tumor,TRUE,FALSE,Active +GARD:5742,Legacy,GARD,,,,,,,,,,,,Lung adenocarcinoma,TRUE,FALSE,Active +GARD:5743,Legacy,GARD,,,,,,,,,,,,Adenoid cystic carcinoma,TRUE,FALSE,Active +GARD:5745,Legacy,GARD,,,,,,,,,,,,Adenoma of the adrenal gland,TRUE,FALSE,Active +GARD:5747,Active,Orphanet,ORPHA:314419,Disorder,[Disease],Ameloblastoma,,"A rare, benign, slow-growing odontologic tumor located in the mandible, and on occasion the maxilla, characterized by painless, variable-sized jaw swelling, which if left untreated may lead to a grotesque facial appearance. Occasionally, paresthesias, tooth displacement and adjacent root resorption may be associated. Local invasion is frequently observed, but malignant transformation and metastasis are not common.",,,,,,Ameloblastoma,TRUE,FALSE,Active +GARD:5748,Active,Orphanet,ORPHA:277,Disorder,[Disease],Severe combined immunodeficiency due to adenosine deaminase deficiency,"[ADA deficiency, SCID due to adenosine deaminase deficiency]",Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.,[102700],,,,,Adenosine deaminase deficiency,TRUE,FALSE,Active +GARD:5749,Active,Orphanet,ORPHA:454718,Disorder,[Disease],Holmes-Adie syndrome,"[Adie syndrome, Tonic pupil-tendon areflexia syndrome]","A rare ophthalmic disorder characterized by the unilateral or bilateral occurrence of a tonic pupil (showing sectorial denervation of the sphincter pupillae, so that the pupil constricts poorly to light, while the response to near is present but abnormally prolonged), in association with the absence of deep tendon reflexes. In some patients, patchy hypo- or anhidrosis may also be present (a variant known as Ross syndrome). The condition typically occurs in young adults, with a female preponderance.",[103100],,,,,Adie syndrome,TRUE,FALSE,Active +GARD:575,Active,Orphanet,ORPHA:51,Disorder,[Disease],Aicardi-Goutières syndrome,"[Encephalopathy with basal ganglia calcification, Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid]","An inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.","[610333, 610181, 225750, 114100, 612952, 615010, 615846, 610329]",,,,,Aicardi-Goutieres syndrome,TRUE,FALSE,Active +GARD:5750,Active,Orphanet,ORPHA:36397,Disorder,[Disease],Adiposis dolorosa,"[Adiposalgia, Adipose tissue rheumatism, Dercum disease, Lipomatosis dolorosa]","A rare disorder of subcutaneous tissue characterized by the development of painful, adipose tissue with multiple subcutaneous lipomas, in association with overweight or obesity.",[103200],,,,,Adiposis dolorosa,TRUE,FALSE,Active +GARD:5751,Legacy,GARD,,,,,,,,,,,,Adrenal cancer,TRUE,FALSE,Active +GARD:5755,Legacy,GARD,,,,,,,,,,,,Adrenal medulla cancer,TRUE,FALSE,Active +GARD:5757,Legacy,GARD,,,,,,,,,,,,21-hydroxylase deficiency,TRUE,FALSE,Active +GARD:5758,Active,Orphanet,ORPHA:43,Disorder,[Disease],X-linked adrenoleukodystrophy,"[ALD, X-ALD, X-linked ALD]","A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy.","[300100, 302700]",,,,,X-linked adrenoleukodystrophy ,TRUE,FALSE,Active +GARD:5761,Active,Orphanet,ORPHA:98880,Subtype of disorder,[Clinical subtype],Familial afibrinogenemia,,Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.,[202400],,,,,Afibrinogenemia,TRUE,FALSE,Active +GARD:5763,Legacy,GARD,,,,,,,,,,,,Ahumada Del Castillo syndrome,TRUE,FALSE,Active +GARD:5764,Active,Orphanet,ORPHA:50,Disorder,[Disease],Aicardi syndrome,[Agenesis of corpus callosum with chorioretinal abnormality],"A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females.",[304050],,,,,Aicardi syndrome,TRUE,FALSE,Active +GARD:5765,Legacy,GARD,,,,,,,,,,,,AIDS dysmorphic syndrome,TRUE,FALSE,Active +GARD:5768,Legacy,GARD,,,,,,,,,,,,Albinism,TRUE,FALSE,Active +GARD:577,Legacy,GARD,,,,,,,,,,,,Akaba Hayasaka syndrome,TRUE,FALSE,Active +GARD:5770,Active,Orphanet,ORPHA:457059,Group of disorders,[Clinical group],Pseudohypoparathyroidism with Albright hereditary osteodystrophy,,,,,,,,Albright's hereditary osteodystrophy,TRUE,FALSE,Active +GARD:5774,Active,Orphanet,ORPHA:58,Disorder,[Disease],Alexander disease,[AxD],"A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.",[203450],,,,,Alexander disease,TRUE,FALSE,Active +GARD:5775,Active,Orphanet,ORPHA:56,Disorder,[Disease],Alkaptonuria,"[Hereditary ochronosis, Homogentisic acid oxidase deficiency]","A rare disorder of phenylalanine and tyrosine metabolism characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).",[203500],,,,,Alkaptonuria,TRUE,FALSE,Active +GARD:5776,Legacy,GARD,,,,,,,,,,,,Allergic angiitis,TRUE,FALSE,Active +GARD:5777,Legacy,GARD,,,,,,,,,,,,Allergic autoimmune thyroiditis,TRUE,FALSE,Retired +GARD:5779,Legacy,GARD,,,,,,,,,,,,Allergic encephalomyelitis,TRUE,FALSE,Active +GARD:578,Legacy,GARD,,,,,,,,,,,,Akesson syndrome,TRUE,FALSE,Active +GARD:5782,Legacy,GARD,,,,,,,,,,,,Alopecia areata,FALSE,FALSE,Active +GARD:5783,Active,Orphanet,ORPHA:726,Disorder,[Disease],Alpers-Huttenlocher syndrome,"[Alpers progressive sclerosing poliodystrophy, Alpers syndrome, Progressive neuronal degeneration of childhood with liver disease]","A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.",[203700],,,,,Alpers syndrome,TRUE,FALSE,Active +GARD:5784,Active,Orphanet,ORPHA:60,Disorder,[Disease],Alpha-1-antitrypsin deficiency,"[Alpha-1-proteinase inhibitor deficiency, Alpha1-antitrypsin deficiency]","A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis.",[613490],,,,,Alpha-1 antitrypsin deficiency,TRUE,FALSE,Active +GARD:5785,Active,Orphanet,ORPHA:63,Disorder,[Disease],Alport syndrome,"[Alport deafness-nephropathy, Alport hearing loss-nephropathy]","A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.","[301050, 104200, 203780]",,,,,Alport syndrome,TRUE,FALSE,Active +GARD:5786,Active,Orphanet,ORPHA:803,Disorder,[Disease],Amyotrophic lateral sclerosis,"[ALS, Charcot disease, Lou Gehrig disease]","A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.","[615426, 205250, 606070, 105400, 615515, 608030, 613954, 616437, 608031, 608627, 600795, 617839, 611895, 300857, 612069, 612577, 619133, 617892, 606640, 613435, 619141, 614808, 616208]",,,,,Amyotrophic lateral sclerosis,TRUE,FALSE,Active +GARD:5787,Active,Orphanet,ORPHA:64,Disorder,[Disease],Alström syndrome,,"A rare multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.",[203800],,,,,Alström syndrome,TRUE,FALSE,Active +GARD:579,Legacy,GARD,,,,,,,,,,,,Aksu von Stockhausen syndrome,TRUE,FALSE,Active +GARD:5791,Active,Orphanet,ORPHA:88661,Disorder,[Disease],Amelogenesis imperfecta,,"A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.","[612529, 130900, 614832, 616270, 204700, 104500, 104530, 204650, 616221, 615887, 617217, 104510, 301200, 613211, 301201]",,,,,Amelogenesis imperfecta,TRUE,FALSE,Active +GARD:5793,Legacy,GARD,,,,,,,,,,,,Aminoacidopathies,FALSE,FALSE,Active +GARD:5794,Legacy,GARD,,,,,,,,,,,,Aminoaciduria,TRUE,FALSE,Active +GARD:5797,Active,Orphanet,ORPHA:85443,Disorder,[Disease],AL amyloidosis,"[Light-chain amyloidosis, Primary amyloidosis]","A clonal B-cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains. It usually presents as systemic AL amyloidosis with involvement of one or more parenchymal organ(s) and, less frequently, as localized amyloidosis with usually nodular deposits restricted to a single organ and/or system.",[254500],,,,,AL amyloidosis,TRUE,FALSE,Active +GARD:5798,Legacy,GARD,,,,,,,,,,,,Amyotonia congenita,TRUE,FALSE,Active +GARD:5802,Active,Orphanet,ORPHA:90652,Disorder,[Malformation syndrome],Otopalatodigital syndrome type 2,"[OPD II syndrome, OPD syndrome 2]","A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.",[304120],,,,,Oto-palato-digital syndrome type 2,TRUE,FALSE,Active +GARD:5803,Active,Orphanet,ORPHA:754,Group of disorders,[Clinical group],Androgen insensitivity syndrome,"[AIS, Androgen resistance syndrome, Goldberg-Maxwell syndrome, Morris syndrome, Testicular feminization syndrome]","A disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).",,,,,,Androgen insensitivity syndrome,TRUE,FALSE,Active +GARD:5808,Active,Orphanet,ORPHA:1048,Disorder,[Morphological anomaly],Isolated anencephaly/exencephaly,,"A neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.",[206500],,,,,Anencephaly,TRUE,FALSE,Active +GARD:581,Legacy,GARD,,,,,,,,,,,,Asrar Facharzt Haque syndrome,TRUE,FALSE,Active +GARD:5810,Active,Orphanet,ORPHA:72,Disorder,[Malformation syndrome],Angelman syndrome,,A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.,[105830],,,,,Angelman syndrome,TRUE,FALSE,Active +GARD:5811,Legacy,GARD,,,,,,,,,,,,Angioimmunoblastic lymphadenopathy with dysproteinemia,TRUE,FALSE,Active +GARD:5813,Legacy,GARD,,,,,,,,,,,,Angiosarcoma of the liver,TRUE,FALSE,Active +GARD:5814,Legacy,GARD,,,,,,,,,,,,Angiosarcoma of the scalp,TRUE,FALSE,Active +GARD:5816,Active,Orphanet,ORPHA:250923,Disorder,[Morphological anomaly],Isolated aniridia,,Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.,"[617141, 106210, 617142]",,,,,Aniridia,TRUE,FALSE,Active +GARD:5818,Active,Orphanet,ORPHA:99797,Disorder,[Morphological anomaly],Anodontia,,An extreme developmental dental anomaly characterized by the complete absence of all teeth.,[206780],,,,,Anodontia,TRUE,FALSE,Active +GARD:5819,Active,Orphanet,ORPHA:325124,Disorder,[Morphological anomaly],Testicular agenesis,[Bilateral anorchia],"A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise normal male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG administration. The GnRH stimulation test induces a prolonged increase in FSH and LH levels.",,,,,,Anorchia,TRUE,FALSE,Active +GARD:5824,Active,Orphanet,ORPHA:80,Disorder,[Disease],Antiphospholipid syndrome,"[APLS, Antiphospholipid antibody syndrome, Classic APLS, Classic antiphospholipid syndrome, Hughes syndrome]",,,,,,,Antiphospholipid syndrome,TRUE,FALSE,Active +GARD:5826,Active,Orphanet,ORPHA:83,Disorder,[Malformation syndrome],Antley-Bixler syndrome,,"A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.",[207410],,,,,Antley Bixler syndrome,TRUE,FALSE,Active +GARD:5828,Active,Orphanet,ORPHA:1457,Disorder,[Morphological anomaly],Aorta coarctation,,,[120000],,,,,Aortic coarctation,TRUE,FALSE,Active +GARD:583,Active,Orphanet,ORPHA:2865,Disorder,[Malformation syndrome],Short stature-webbed neck-heart disease syndrome,[Al Gazali-Aziz-Salem syndrome],"Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.",,,,,,Al Gazali Aziz Salem syndrome,TRUE,FALSE,Active +GARD:5830,Legacy,GARD,,,,,,,,,,,,Aortic valve stenosis,TRUE,FALSE,Active +GARD:5833,Active,Orphanet,ORPHA:87,Disorder,[Malformation syndrome],Apert syndrome,"[ACS1, Acrocephalosyndactyly type 1]","A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.",[101200],,,,,Apert syndrome,TRUE,FALSE,Active +GARD:5834,Legacy,GARD,,,,,,,,,,,,Aphthous stomatitis,TRUE,FALSE,Active +GARD:5835,Active,Orphanet,ORPHA:1114,Disorder,[Malformation syndrome],Aplasia cutis congenita,,"A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies.","[600360, 107600]",,,,,Aplasia cutis congenita,TRUE,FALSE,Active +GARD:5836,Active,Orphanet,ORPHA:88,Disorder,[Disease],Idiopathic aplastic anemia,[Idiopathic bone marrow failure],,"[614742, 609135, 614743]",,,,,Aplastic anemia,TRUE,FALSE,Active +GARD:5838,Legacy,GARD,,,,,,,,,,,,Apraxia,TRUE,FALSE,Active +GARD:5839,Active,Orphanet,ORPHA:137817,Disorder,[Disease],Arachnoiditis,"[Adhesive arachnoiditis, Chronic arachnoiditis]","A chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.",[182950],,,,,Arachnoiditis,TRUE,FALSE,Active +GARD:584,Active,Orphanet,ORPHA:2153,Disorder,[Malformation syndrome],Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,[Al Gazali-Donnai-Muller syndrome],"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.",[235760],,,,,Al-Gazali-Donnai-Mueller syndrome,TRUE,FALSE,Active +GARD:5840,Active,Orphanet,ORPHA:90,Disorder,[Disease],Argininemia,"[Arginase deficiency, Hyperargininemia]","A rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.",[207800],,,,,Arginase deficiency,TRUE,FALSE,Active +GARD:5843,Active,Orphanet,ORPHA:23,Disorder,[Disease],Argininosuccinic aciduria,"[ASA deficiency, ASL deficiency, Argininosuccinase deficiency, Argininosuccinatelyase deficiency, Argininosuccinic acid lyase deficiency]","A rare, genetic disorder of urea cycle metabolism typically characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms that manifest with stress- or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities, or chronic liver disease. Patients often manifest liver dysfunction.",[207900],,,,,Argininosuccinic aciduria,TRUE,FALSE,Active +GARD:5845,Legacy,GARD,,,,,,,,,,,,Chiari malformation,FALSE,FALSE,Active +GARD:5847,Active,Orphanet,ORPHA:247,Group of disorders,[Clinical group],Arrhythmogenic right ventricular cardiomyopathy,"[ARVC, ARVD, Arrhythmogenic right ventricular dysplasia]","A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.",,,,,,Arrhythmogenic right ventricular cardiomyopathy,TRUE,FALSE,Active +GARD:5852,Active,Orphanet,ORPHA:2302,Disorder,[Disease],Asbestos intoxication,[Asbestosis],"A rare pneumoconiosis caused by exposure to asbestos particles. Symptoms may appear many years after exposure and include progressive dyspnea on exertion, dry cough, chest pain, tightness, inspiratory crackles, clubbing of the fingers. Later complications include mesothelioma and lung cancers.",,,,,,Asbestosis,TRUE,FALSE,Active +GARD:5853,Active,Orphanet,ORPHA:137686,Disorder,[Disease],Asherman syndrome,,"A rare, acquired uterine disease characterized by intrauterine adhesions associated with a history of curettage or intrauterine surgery and gynecological symptoms (secondary amenorrhea, hypomenorrhea, pelvic pain, infertility or pregnancy loss).",,,,,,Asherman's syndrome,TRUE,FALSE,Active +GARD:5854,Active,Orphanet,ORPHA:93,Disorder,[Disease],Aspartylglucosaminuria,[Aspartylglucosaminidase deficiency],An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).,[208400],,,,,Aspartylglycosaminuria,TRUE,FALSE,Active +GARD:5855,Legacy,GARD,,,,,,,,,,,,Asperger syndrome,FALSE,FALSE,Active +GARD:5856,Active,Orphanet,ORPHA:1163,Disorder,[Disease],Aspergillosis,,"A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.",[614079],,,,,Aspergillosis,TRUE,FALSE,Active +GARD:5857,Legacy,GARD,,,,,,,,,,,,Asphyxia neonatorum,TRUE,FALSE,Active +GARD:586,Legacy,GARD,,,,,,,,,,,,Al Gazali Khidr Prem Chandran syndrome,TRUE,FALSE,Active +GARD:5860,Active,Orphanet,ORPHA:251589,Disorder,[Disease],Anaplastic astrocytoma,,"A rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.",,,,,,Anaplastic astrocytoma,TRUE,FALSE,Active +GARD:5862,Active,Orphanet,ORPHA:100,Disorder,[Disease],Ataxia-telangiectasia,[Louis-Bar syndrome],"A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer.","[208900, 208910]",,,,,Ataxia telangiectasia,TRUE,FALSE,Active +GARD:5863,Legacy,GARD,,,,,,,,,,,,Athetosis,TRUE,FALSE,Active +GARD:5864,Active,Orphanet,ORPHA:847,Disorder,[Malformation syndrome],Alpha-thalassemia-X-linked intellectual disability syndrome,[ATR-X syndrome],"A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia.","[309580, 301040]",,,,,Alpha-thalassemia x-linked intellectual disability syndrome,TRUE,FALSE,Active +GARD:5865,Active,Orphanet,ORPHA:99103,Subtype of disorder,[Clinical subtype],"Atrial septal defect, ostium secundum type","[ASD, ostium secundum type]",,"[614430, 611363, 614089]",,,,,Ostium secundum atrial septal defect,TRUE,FALSE,Active +GARD:5866,Legacy,GARD,,,,,,,,,,,,Atrophoderma of Pasini and Pierini,TRUE,FALSE,Active +GARD:5867,Active,Orphanet,ORPHA:79088,Group of disorders,[Clinical group],Localized lipodystrophy,,"A rare group of acquired lipodystrophies that are characterized by loss of subcutaneous tissue from generally small regions of the body, either single or multiple areas, and are not typically associated with metabolic complications. Some cases may involve lipohypertrophy (insulin). This group includes pressure-induced localized lipoatrophy, drug-induced localized lipodystrophy, panniculitis- induced localized lipodystrophy, centrifugal lipodystrophy, and idiopathic localized lipodystrophy.",,,,,,Localized lipodystrophy,TRUE,FALSE,Active +GARD:587,Active,Orphanet,ORPHA:2773,Disorder,[Malformation syndrome],Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,[Al Gazali-Nair syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.",,,,,,Al Gazali Sabrinathan Nair syndrome,TRUE,FALSE,Active +GARD:5870,Active,Orphanet,ORPHA:98375,Group of disorders,[Clinical group],Autoimmune hemolytic anemia,"[AHA, AIHA]","A rare, autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.",,,,,,Autoimmune hemolytic anemia,TRUE,FALSE,Active +GARD:5871,Active,Orphanet,ORPHA:2137,Disorder,[Disease],Autoimmune hepatitis,[AIH],"A rare liver disease characterized by immune-mediated, acute or chronic liver inflammation, clinically presenting as cryptogenic hepatitis, with interface hepatitis on histological examination, elevated serum aminotransferase levels, and hypergammaglobulinemia / elevated immunoglobulin G, in the presence or absence of specific circulating autoantibodies. Patients may be asymptomatic, chronically ill, or present with acute liver failure. Concurrent autoimmune diseases are frequently observed.",,,,,,Autoimmune hepatitis,TRUE,FALSE,Active +GARD:5877,Legacy,GARD,,,,,,,,,,,,B-cell lymphoma,TRUE,FALSE,Active +GARD:5878,Active,Orphanet,ORPHA:108,Disorder,[Disease],Babesiosis,,Babesiosis is an infectious disease caused by protozoa of the genus Babesia and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.,,,,,,Babesiosis,TRUE,FALSE,Active +GARD:588,Active,Orphanet,ORPHA:2007,Disorder,[Malformation syndrome],Alar cartilages hypoplasia-coloboma-telecanthus syndrome,,A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.,[203000],,,,,Coloboma of alar-nasal cartilages with telecanthus,TRUE,FALSE,Active +GARD:5881,Legacy,GARD,,,,,,,,,,,,Bacterial meningitis,TRUE,FALSE,Active +GARD:5885,Active,Orphanet,ORPHA:228165,Disorder,[Disease],Baló concentric sclerosis,[Concentric demyelination],"A rare multiple sclerosis variant characterized by discrete concentrically layered, ring-like lesions in the cerebral white matter, consisting of alternating layers of myelinated and demyelinated tissue. Patients most commonly present with symptoms of an intracerebral mass lesion, including headache, cognitive abnormalities, behavioral changes, seizures, aphasia, or hemiparesis, among others, although there may also be classic focal symptoms of multiple sclerosis, such as focal weakness, ataxia, sensory disturbance, or diplopia.",,,,,,Tumefactive multiple sclerosis,TRUE,FALSE,Active +GARD:5887,Active,Orphanet,ORPHA:109,Disorder,[Malformation syndrome],Bannayan-Riley-Ruvalcaba syndrome,"[BRRS, Myhre-Riley-Smith syndrome]","A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.",[158350],,,,,Bannayan-Riley-Ruvalcaba syndrome,TRUE,FALSE,Active +GARD:5888,Legacy,GARD,,,,,,,,,,,,Banti's syndrome,TRUE,FALSE,Active +GARD:589,Active,Orphanet,ORPHA:998,Disorder,[Malformation syndrome],Albinism-deafness syndrome,[Albinism-hearing loss syndrome],"A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.",[300700],,,,,Albinism deafness syndrome,TRUE,FALSE,Active +GARD:5890,Active,Orphanet,ORPHA:111,Disorder,[Disease],Barth syndrome,"[3-methylglutaconic aciduria type 2, BTHS, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, Cardioskeletal myopathy-neutropenia syndrome, MGA2, X-linked cardioskeletal myopathy and neutropenia]","Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.",[302060],,,,,Barth syndrome,TRUE,FALSE,Active +GARD:5893,Active,Orphanet,ORPHA:112,Disorder,[Disease],Bartter syndrome,"[Renal tubular normotensive hypokalemic alkalosis with hypercalciuria, Salt-losing tubular disorder, Henle's loop type, Salt-wasting tubulopathy, Henle's loop type]","Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.","[602522, 607364, 601198, 300971, 601678, 613090, 241200]",,,,,Bartter syndrome,TRUE,FALSE,Active +GARD:5896,Legacy,GARD,,,,,,,,,,,,Migraine with brainstem aura,TRUE,FALSE,Active +GARD:5897,Active,Orphanet,ORPHA:228346,Subtype of disorder,[Etiological subtype],CLN3 disease,"[Classic juvenile NCL, Classic juvenile neuronal ceroid lipofuscinosis]",,[204200],,,,,Neuronal ceroid lipofuscinosis 3,TRUE,FALSE,Active +GARD:5898,Active,Orphanet,ORPHA:97245,Group of disorders,[Category],Congenital myopathy,,,,,,,,Myopathy congenital,TRUE,FALSE,Active +GARD:5899,Active,Orphanet,ORPHA:115,Disorder,[Malformation syndrome],Congenital contractural arachnodactyly,"[Beals syndrome, Beals-Hecht syndrome, CCA syndrome, Distal arthrogryposis type 9]","Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.",[121050],,,,,Congenital contractural arachnodactyly,TRUE,FALSE,Active +GARD:59,Active,Orphanet,ORPHA:1955,Disorder,[Disease],Spinocerebellar ataxia type 34,"[Erythrokeratodermia with ataxia, SCA34, Spinocerebellar ataxia and erythrokeratodermia]","An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.",[133190],,,,,Spinocerebellar ataxia 34,TRUE,FALSE,Active +GARD:590,Legacy,GARD,,,,,,,,,,,,Albinism immunodeficiency,TRUE,FALSE,Retired +GARD:5900,Active,Orphanet,ORPHA:98895,Disorder,[Disease],Becker muscular dystrophy,"[BMD, Becker dystrophinopathy]","A rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.","[300376, 159050]",,,,,Becker muscular dystrophy,TRUE,FALSE,Active +GARD:5901,Legacy,GARD,,,,,,,,,,,,Becker's nevus,TRUE,FALSE,Active +GARD:5905,Legacy,GARD,,,,,,,,,,,,Bejel,TRUE,FALSE,Active +GARD:5906,Legacy,GARD,,,,,,,,,,,,Bell's palsy,TRUE,FALSE,Active +GARD:5907,Active,Orphanet,ORPHA:251595,Disorder,[Disease],Diffuse astrocytoma,,"A rare low-grade astrocytoma characterized by a high degree of cellular differentiation, slow growth, and diffuse infiltration of adjacent brain structures, and corresponding to WHO grade II. The tumor typically affects young adults and has an intrinsic tendency for progression to high-grade glioma. Histological variants are fibrillary, gemistocytic, and protoplasmic astrocytoma. Patients most commonly present with seizures, but also with other neurological or neuropsychological abnormalities, depending on the location.",,,,,,Diffuse astrocytoma,TRUE,FALSE,Active +GARD:5909,Legacy,GARD,,,,,,,,,,,,Benign essential blepharospasm,TRUE,FALSE,Active +GARD:5910,Legacy,GARD,,,,,,,,,,,,Essential tremor,FALSE,FALSE,Active +GARD:5911,Legacy,GARD,,,,,,,,,,,,Thin basement membrane nephropathy,FALSE,FALSE,Active +GARD:5913,Active,Orphanet,ORPHA:46486,Disorder,[Disease],Mucous membrane pemphigoid,"[Cicatricial pemphigoid, Mucosal pemphigoid, Mucosynechial pemphigoid]","A rare autoimmune bullous skin disease characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically characterized by IgG, IgA and/or C3 deposits on the epidermal basement membrane. The disease principally involves the oral mucosa, but may also affect ocular, pharyngolaryngeal, genital, and esophageal mucous membranes.",[164185],,,,,Mucous membrane pemphigoid,TRUE,FALSE,Active +GARD:5915,Legacy,GARD,,,,,,,,,,,,Benign paroxysmal positional vertigo,TRUE,FALSE,Active +GARD:5918,Legacy,GARD,,,,,,,,,,,,Beta-galactosidase-1 deficiency,TRUE,FALSE,Active +GARD:592,Active,Orphanet,ORPHA:1000,Disorder,[Disease],Ocular albinism with late-onset sensorineural deafness,[Ocular albinism with late-onset sensorineural hearing loss],"Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.",[300650],,,,,Albinism ocular late onset sensorineural deafness,TRUE,FALSE,Active +GARD:5921,Legacy,GARD,,,,,,,,,,,,Potter syndrome type 4,TRUE,FALSE,Retired +GARD:5924,Legacy,GARD,,,,,,,,,,,,Biliary tract cancer,TRUE,FALSE,Active +GARD:5925,Legacy,GARD,,,,,,,,,,,,Binswanger's disease,TRUE,FALSE,Active +GARD:5926,Active,Orphanet,ORPHA:179,Disorder,[Disease],Birdshot chorioretinopathy,"[Birdshot chorioretinitis, Birdshot retinochoroiditis, Birdshot retinochoroidopathy, Vitiliginous choroiditis]","Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.",[605808],,,,,Birdshot chorioretinopathy,TRUE,FALSE,Active +GARD:5930,Legacy,GARD,,,,,,,,,,,,Blastoma,TRUE,FALSE,Retired +GARD:5931,Legacy,GARD,,,,,,,,,,,,Blastomycosis,TRUE,FALSE,Active +GARD:5932,Legacy,GARD,,,,,,,,,,,,Blepharophimosis,TRUE,FALSE,Active +GARD:5939,Active,Orphanet,ORPHA:94086,Disorder,[Disease],Blue diaper syndrome,"[Drummond syndrome, Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome]",Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.,[211000],,,,,Blue diaper syndrome,TRUE,FALSE,Active +GARD:594,Active,Orphanet,ORPHA:79434,Subtype of disorder,[Clinical subtype],Oculocutaneous albinism type 1B,"[OCA1B, Oculocutaneous albinism, Amish type, Platinum oculocutaneous albinism, Yellow oculocutaneous albinism]","A form of oculocutaneous albinism type 1 (OCA1) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.",[606952],,,,,Oculocutaneous albinism type 1B,TRUE,FALSE,Active +GARD:5940,Active,Orphanet,ORPHA:1059,Disorder,[Malformation syndrome],Blue rubber bleb nevus,"[BRBN, Bean syndrome]","A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.",[112200],,,,,Blue rubber bleb nevus syndrome,TRUE,FALSE,Active +GARD:5943,Legacy,GARD,,,,,,,,,,,,Bone cancer,FALSE,FALSE,Draft +GARD:5948,Legacy,GARD,,,,,,,,,,,,Bowen's disease,TRUE,FALSE,Active +GARD:5950,Active,Orphanet,ORPHA:1270,Disorder,[Malformation syndrome],Bowen-Conradi syndrome,"[Bowen syndrome, Hutterite type]","A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.",[211180],,,,,Bowen-Conradi syndrome,TRUE,FALSE,Active +GARD:5951,Legacy,GARD,,,,,,,,,,,,Bowenoid papulosis,TRUE,FALSE,Active +GARD:596,Legacy,GARD,,,,,,,,,,,,Albright like syndrome,TRUE,FALSE,Active +GARD:5961,Active,Orphanet,ORPHA:1303,Disorder,[Disease],Bronchiolitis obliterans with obstructive pulmonary disease,"[Constrictive bronchiolitis, Obliterative bronchiolitis]",A rare lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.,,,,,,Bronchiolitis obliterans organizing pneumonia,TRUE,FALSE,Active +GARD:5962,Active,Orphanet,ORPHA:70589,Disorder,[Malformation syndrome],Bronchopulmonary dysplasia,[BPD],"Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.",,,,,,Bronchopulmonary dysplasia,TRUE,FALSE,Active +GARD:5963,Legacy,GARD,,,,,,,,,,,,Brown syndrome,TRUE,FALSE,Active +GARD:5964,Legacy,GARD,,,,,,,,,,,,Brown-Sequard syndrome,TRUE,FALSE,Active +GARD:5966,Active,Orphanet,ORPHA:1304,Disorder,[Disease],Brucellosis,,"Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus Brucella transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis.",,,,,,Brucellosis,TRUE,FALSE,Active +GARD:5968,Active,Orphanet,ORPHA:131,Disorder,[Disease],Budd-Chiari syndrome,,A rare vascular liver disease characterized by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.,[600880],,,,,Budd-Chiari syndrome,TRUE,FALSE,Active +GARD:5969,Active,Orphanet,ORPHA:36258,Disorder,[Disease],Buerger disease,[Thromboangiitis obliterans],"A rare inflammatory, non-necrotizing, non-atherosclerotic, occlusive vascular disease characterized by thrombosis and recanalization affecting small and medium sized arteries and veins of upper and lower extremities.",[211480],,,,,Buerger disease,TRUE,FALSE,Active +GARD:5972,Active,Orphanet,ORPHA:703,Disorder,[Disease],Bullous pemphigoid,,"A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission.",,,,,,Bullous pemphigoid,TRUE,FALSE,Active +GARD:5973,Active,Orphanet,ORPHA:543,Disorder,[Disease],Burkitt lymphoma,[Small non-cleaved cell lymphoma],Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.,[113970],,,,,Burkitt lymphoma,TRUE,FALSE,Active +GARD:5974,Active,Orphanet,ORPHA:353253,Disorder,[Disease],Burning mouth syndrome,"[BMS, Oral dysesthesia, Orodynia, Stomatodynia, Stomatopyrosis]","A rare neurologic disease characterized by an unremitting bilateral symmetrical burning sensation of the oral mucosa without clinical evidence of causative lesions. It most frequently occurs in postmenopausal women and typically affects the tongue, less often the palate, lips, or buccal mucosa. It is often associated with dysgeusia and xerostomia.",,,,,,Burning mouth syndrome,FALSE,FALSE,Active +GARD:5975,Active,Orphanet,ORPHA:352763,Disorder,[Disease],Scleredema,[Buschke scleredema],"A rare acquired skin disease characterized by excessive mucin deposition and thickened collagen bundles in the dermis, resulting in woody, non-pitting induration of the skin of the neck, spreading to the shoulders and upper trunk, but sparing hands and feet. According to the association with preceding or underlying conditions, three types can be distinguished: type 1 usually follows a febrile infection, type 2 is associated with paraproteinemia, and type 3 occurs in patients with diabetes mellitus. Especially in types 2 and 3, extracutaneous involvement may be present. Other potentially associated conditions include a variety of endocrinopathies, systemic diseases, and neoplasms.",,,,,,Scleredema,TRUE,FALSE,Active +GARD:5976,Legacy,GARD,,,,,,,,,,,,Byssinosis,TRUE,FALSE,Active +GARD:5978,Active,Orphanet,ORPHA:1308,Disorder,[Malformation syndrome],C syndrome,"[OTCS, Opitz C trigonocephaly, Opitz trigonocephaly C syndrome, Opitz trigonocephaly syndrome, Trigonocephaly C syndrome]","C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.",[211750],,,,,C syndrome,TRUE,FALSE,Active +GARD:5979,Active,Orphanet,ORPHA:91378,Group of disorders,[Clinical group],Hereditary angioedema,"[Familial angioneurotic edema, HAE, Hereditary angioneurotic edema, Hereditary bradykinine-induced angioedema, Hereditary non histamine-induced angioedema]",Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.,"[106100, 610618]",,,,,Hereditary angioedema,TRUE,FALSE,Active +GARD:5980,Active,Orphanet,ORPHA:280062,Disorder,[Disease],Calciphylaxis,,A rare vascular calcification disorder typically characterized by occlusion of microvessels in the cutaneous tissue resulting in painful cutaneous lesions. The disorder is often life-limiting.,,,,,,Calciphylaxis,TRUE,FALSE,Active +GARD:5984,Active,Orphanet,ORPHA:141,Disorder,[Disease],Canavan disease,"[ACY2 deficiency, Aminoacylase 2 deficiency, Aspartoacylase deficiency, Spongy degeneration of the brain]","Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.",[271900],,,,,Canavan disease,TRUE,FALSE,Active +GARD:599,Active,Orphanet,ORPHA:1915,Disorder,[Malformation syndrome],Fetal alcohol syndrome,"[ARBD, ARND, Alcohol-related birth defects, Alcohol-related neurodevelopmental disorder, FAS, FASD, Fetal alcohol spectrum disorders]","Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).",,,,,,Fetal Alcohol Spectrum Disorders,FALSE,FALSE,Active +GARD:5993,Active,Orphanet+OMIM,OMIM:611490,Subtype of disorder,[Malformation syndrome subtype],"Osteopetrosis, autosomal recessive 4","[Osteopetrosis, infantile malignant 2]",,[611490],[667],[Autosomal recessive malignant osteopetrosis],[15012],,Osteopetrosis autosomal recessive 4,TRUE,FALSE,Active +GARD:5994,Active,Orphanet,ORPHA:100093,Disorder,[Clinical syndrome],Carcinoid syndrome,[Malignant carcinoid syndrome],"A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.",,,,,,Carcinoid syndrome,TRUE,FALSE,Active +GARD:5996,Legacy,GARD,,,,,,,,,,,,Carcinoma of the vocal tract,TRUE,FALSE,Active +GARD:5999,Legacy,GARD,,,,,,,,,,,,Cardiospasm,TRUE,FALSE,Active +GARD:6,Active,Orphanet,ORPHA:93437,Group of disorders,[Clinical group],Acromesomelic dysplasia,,,,,,,,Acromesomelic dysplasia,TRUE,FALSE,Active +GARD:60,Active,Orphanet,ORPHA:64734,Disorder,[Disease],Iridocorneal endothelial syndrome,[ICE syndrome],"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler’s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications",,,,,,Iridocorneal endothelial syndrome,TRUE,FALSE,Active +GARD:600,Active,Orphanet,ORPHA:57,Disorder,[Disease],Glycogen storage disease due to aldolase A deficiency,"[GSD due to aldolase A deficiency, GSD type 12, GSD type XII, Glycogen storage disease type 12, Glycogen storage disease type XII, Glycogenosis due to aldolase A deficiency, Glycogenosis type 12, Glycogenosis type XII]",Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.,[611881],,,,,Glycogen storage disease type 12,TRUE,FALSE,Active +GARD:6001,Active,Orphanet,ORPHA:1361,Disorder,[Biological anomaly],Carnosinase deficiency,,"A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.",[212200],,,,,Carnosinemia,TRUE,FALSE,Active +GARD:6002,Active,Orphanet,ORPHA:53035,Disorder,[Malformation syndrome],Caroli disease,,Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.,[600643],,,,,Caroli disease,TRUE,FALSE,Active +GARD:6003,Active,Orphanet,ORPHA:65759,Disorder,[Malformation syndrome],Carpenter syndrome,"[ACPS2, Acrocephalopolysyndactyly type 2]","A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia.","[201000, 614976]",,,,,Carpenter syndrome,TRUE,FALSE,Active +GARD:6004,Legacy,GARD,,,,,,,,,,,,Cartilaginous cancer,TRUE,FALSE,Active +GARD:6005,Active,Orphanet,ORPHA:93685,Subtype of disorder,[Clinical subtype],Unicentric Castleman disease,[Localized Castleman disease],A form of Castleman disease that is usually asymptomatic or that may present with enlarged lymph nodes.,,,,,,Unicentric Castleman disease,TRUE,FALSE,Active +GARD:6007,Active,Orphanet,ORPHA:3027,Disorder,[Malformation syndrome],Caudal regression syndrome,"[Caudal dysgenesis syndrome, Caudal dysplasia, Caudal regression sequence]","A rare congenital malformation of the lower spinal segments characterized by either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described.",[600145],,,,,Caudal regression sequence,TRUE,FALSE,Active +GARD:6010,Active,Orphanet,ORPHA:79489,Disorder,[Malformation syndrome],Macrocystic lymphatic malformation,"[Cavernous lymphangioma, Cavernous lymphatic malformation, Macrocystic lymphangioma]","A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Macrocystic lesions consist of cysts larger than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.",,,,,,Cavernous lymphangioma,TRUE,FALSE,Active +GARD:6011,Active,Orphanet,ORPHA:98889,Subtype of disorder,[Clinical subtype],Bilateral perisylvian polymicrogyria,,,"[615752, 616531, 300388]",,,,,Bilateral perisylvian polymicrogyria,TRUE,FALSE,Active +GARD:6014,Active,Orphanet,ORPHA:597,Disorder,[Disease],Central core disease,,Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.,[117000],,,,,Central core disease,TRUE,FALSE,Active +GARD:6015,Active,Orphanet,ORPHA:178029,Disorder,[Disease],Central diabetes insipidus,"[CDI, Neurogenic diabetes insipidus]",Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms).,"[125700, 304900]",,,,,Central diabetes insipidus,TRUE,FALSE,Active +GARD:6019,Legacy,GARD,,,,,,,,,,,,Cerebellar degeneration,TRUE,FALSE,Active +GARD:602,Active,Orphanet,ORPHA:1164,Disorder,[Disease],Allergic bronchopulmonary aspergillosis,"[ABPA, Allergic aspergillosis, Hinson-Pepys disease]","A rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.",[103920],,,,,Allergic bronchopulmonary aspergillosis,TRUE,FALSE,Active +GARD:6025,Legacy,GARD,,,,,,,,,,,,Cerebral ventricle cancer,TRUE,FALSE,Active +GARD:6026,Active,Orphanet,ORPHA:1393,Disorder,[Malformation syndrome],Cerebrocostomandibular syndrome,,"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.",[117650],,,,,Cerebro-costo-mandibular syndrome,TRUE,FALSE,Active +GARD:6027,Active,Orphanet,ORPHA:1466,Subtype of disorder,[Clinical subtype],COFS syndrome,"[Cerebrooculofacioskeletal syndrome, Pena-Shokeir syndrome type 2]","Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.","[610758, 214150, 610756, 616570, 278780]",,,,,Cerebro-oculo-facio-skeletal syndrome,TRUE,FALSE,Active +GARD:6030,Legacy,GARD,,,,,,,,,,,,Chagas disease,FALSE,FALSE,Active +GARD:6033,Active,Orphanet,ORPHA:98979,Subtype of disorder,[Clinical subtype],Chandler syndrome,,"A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.",,,,,,Chandler's syndrome,TRUE,FALSE,Active +GARD:6034,Active,Orphanet,ORPHA:166,Group of disorders,[Category],Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,"[CMT/HMSN, Charcot-Marie-Tooth hereditary neuropathy]",,,,,,,Charcot-Marie-Tooth disease,TRUE,FALSE,Active +GARD:6035,Active,Orphanet,ORPHA:167,Disorder,[Disease],Chédiak-Higashi syndrome,"[Chédiak-Higashi disease, Chédiak-Higashi-Steinbrink syndrome]","Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.",[214500],,,,,Chediak-Higashi syndrome,TRUE,FALSE,Active +GARD:6036,Active,Orphanet,ORPHA:184,Disorder,[Malformation syndrome],Cherubism,[CRBM],"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.",[118400],,,,,Cherubism,TRUE,FALSE,Active +GARD:6037,Legacy,GARD,,,,,,,,,,,,Chiari-Frommel syndrome,TRUE,FALSE,Active +GARD:6038,Active,Orphanet,ORPHA:324625,Disorder,[Disease],Chikungunya,,"A rare infectious disease characterized by acute onset of high fever associated with debilitating polyarthralgia and usually accompanied by an erythematous skin rash (that may progress to vesiculobullous lesions in children) caused by the mosquitoe-borne Chikungunya virus. Myalgia, severe headache, and lymphadenopathy are frequently associated. Chronically the disease may cause recurrent, long-term polyarthralgia, arthritis, fatigue, and depression.",,,,,,Chikungunya,TRUE,FALSE,Active +GARD:6039,Active,Orphanet,ORPHA:139,Disorder,[Disease],CHILD syndrome,"[CHILD nevus, Congenital hemidysplasia with ichthyosiform nevus and limbs defects]","CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.",[308050],,,,,CHILD syndrome,TRUE,FALSE,Active +GARD:604,Active,Orphanet,ORPHA:1010,Disorder,[Disease],Autosomal dominant palmoplantar keratoderma and congenital alopecia,"[Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia, PPK-CA, Stevanovic type, Palmoplantar keratoderma and congenital alopecia, Stevanovic type]","A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.",[104100],,,,,Autosomal dominant palmoplantar keratoderma and congenital alopecia,TRUE,FALSE,Active +GARD:6040,Active,Orphanet,ORPHA:168782,Disorder,[Disease],Childhood disintegrative disorder,"[Dementia infantilis, Heller syndrome]","Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.",,,,,,Childhood disintegrative disorder,TRUE,FALSE,Active +GARD:6042,Legacy,GARD,,,,,,,,,,,,Intrahepatic cholangiocarcinoma,TRUE,FALSE,Active +GARD:6043,Active,Orphanet,ORPHA:173,Disorder,[Disease],Cholera,,"Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.",,,,,,Cholera,TRUE,FALSE,Active +GARD:6047,Legacy,GARD,,,,,,,,,,,,Chondroblastoma,TRUE,FALSE,Active +GARD:6048,Active,Orphanet+OMIM,OMIM:600668,Subtype of disorder,[Disease subtype],Chondrocalcinosis 1,,"For a general phenotypic description and a discussion of genetic heterogeneity of chondrocalcinosis, also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), see CCAL2 ({118600}).",[600668],[1416],[Familial calcium pyrophosphate deposition],[1292],,Chondrocalcinosis 1,TRUE,FALSE,Active +GARD:6049,Active,Orphanet,ORPHA:309789,Subtype of disorder,[Etiological subtype],Rhizomelic chondrodysplasia punctata type 1,,,[215100],,,,,Rhizomelic chondrodysplasia punctata type 1,TRUE,FALSE,Active +GARD:605,Active,Orphanet,ORPHA:1005,Disorder,[Malformation syndrome],Alopecia-contractures-dwarfism-intellectual disability syndrome,[ACD-intellectual disability syndrome],"A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.",[203550],,,,,Alopecia-contractures-dwarfism-intellectual disability syndrome,TRUE,FALSE,Active +GARD:6050,Legacy,GARD,,,,,,,,,,,,Chondrodysplasia punctata with steroid sulfatase deficiency,TRUE,FALSE,Active +GARD:6051,Legacy,GARD,,,,,,,,,,,,Chondrodystrophy,TRUE,FALSE,Active +GARD:6052,Legacy,GARD,,,,,,,,,,,,Chondroma,TRUE,FALSE,Active +GARD:6054,Legacy,GARD,,,,,,,,,,,,Synovial Chondromatosis,TRUE,FALSE,Active +GARD:6055,Active,Orphanet,ORPHA:55880,Disorder,[Disease],Chondrosarcoma,,"Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.",[215300],,,,,Chondrosarcoma,TRUE,FALSE,Active +GARD:6057,Legacy,GARD,,,,,,,,,,,,Chorea minor,TRUE,FALSE,Retired +GARD:6059,Legacy,GARD,,,,,,,,,,,,Choriocarcinoma,TRUE,FALSE,Active +GARD:606,Active,Orphanet,ORPHA:2574,Disorder,[Malformation syndrome],Moynahan syndrome,"[Alopecia-epilepsy-intellectual disability syndrome, Moynahan type]","A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.",[203600],,,,,Alopecia epilepsy oligophrenia syndrome of Moynahan,TRUE,FALSE,Active +GARD:6060,Legacy,GARD,,,,,,,,,,,,Chorioretinitis,TRUE,FALSE,Active +GARD:6061,Active,Orphanet,ORPHA:180,Disorder,[Disease],Choroideremia,"[CHM, Tapetochoroidal dystrophy]","Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.",[303100],,,,,Choroideremia,TRUE,FALSE,Active +GARD:6062,Legacy,GARD,,,,,,,,,,,,Choroiditis,TRUE,FALSE,Active +GARD:6064,Active,Orphanet,ORPHA:319303,Disorder,[Disease],Chromophobe renal cell carcinoma,[Chromophobe renal cell adenocarcinoma],"Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.",,,,,,Chromophobe renal cell carcinoma,TRUE,FALSE,Active +GARD:6065,Legacy,GARD,,,,,,,,,,,,Chromosomal triplication,TRUE,FALSE,Active +GARD:6068,Legacy,GARD,,,,,,,,,,,,Chromosome 12p deletion,TRUE,FALSE,Active +GARD:6069,Active,Orphanet,ORPHA:96176,Disorder,[Malformation syndrome],Ring chromosome 13 syndrome,"[Ring 13, Ring chromosome 13]","A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.",,,,,,Ring chromosome 13,TRUE,FALSE,Active +GARD:607,Active,Orphanet,ORPHA:1008,Disorder,[Disease],Alopecia-epilepsy-pyorrhea-intellectual disability syndrome,[Shokeir syndrome],"A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.",[104130],,,,,"Alopecia, epilepsy, pyorrhea, mental subnormality",TRUE,FALSE,Active +GARD:6072,Active,Orphanet,ORPHA:1440,Disorder,[Malformation syndrome],Ring chromosome 14 syndrome,"[Ring 14, Ring chromosome 14]","A rare chromosomal anomalie characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.",[616606],,,,,Ring chromosome 14,TRUE,FALSE,Active +GARD:6075,Legacy,GARD,,,,,,,,,,,,Chromosome 17p deletion,TRUE,FALSE,Active +GARD:6077,Active,Orphanet,ORPHA:1442,Disorder,[Malformation syndrome],Ring chromosome 18 syndrome,"[Ring 18, Ring chromosome 18]","Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.",,,,,,Ring chromosome 18,TRUE,FALSE,Active +GARD:608,Legacy,GARD,,,,,,,,,,,,"Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome",TRUE,FALSE,Retired +GARD:6082,Active,Orphanet,ORPHA:1606,Disorder,[Malformation syndrome],1p36 deletion syndrome,"[Del(1)(p36), Deletion 1p36, Deletion 1pter, Monosomy 1p36, Monosomy 1pter, Subtelomeric 1p36 deletion]","A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency.","[616975, 607872]",,,,,Chromosome 1p36 deletion syndrome,TRUE,FALSE,Active +GARD:6083,Active,Orphanet,ORPHA:1445,Disorder,[Malformation syndrome],Ring chromosome 21 syndrome,,"Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.",,,,,,Ring chromosome 21,TRUE,FALSE,Active +GARD:6085,Active,Orphanet,ORPHA:96068,Disorder,[Malformation syndrome],Mosaic trisomy 22,"[Mosaic trisomy chromosome 22, Trisomy 22 mosaicism]","Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.",,,,,,Mosaic trisomy 22,TRUE,FALSE,Active +GARD:609,Legacy,GARD,,,,,,,,,,,,Alopecia immunodeficiency,TRUE,FALSE,Retired +GARD:6090,Legacy,GARD,,,,,,,,,,,,Chromosome 4p deletion,TRUE,FALSE,Active +GARD:6091,Active,Orphanet,ORPHA:1738,Disorder,[Malformation syndrome],Trisomy 4p,"[Duplication 4p, Duplication of the short arm of chromosome 4, Trisomy of the short arm of chromosome 4]","Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.",,,,,,Chromosome 4p duplication,TRUE,FALSE,Active +GARD:6093,Active,Orphanet,ORPHA:1742,Disorder,[Malformation syndrome],Trisomy 5p,"[Duplication 5p, Duplication of the short arm of chromosome 5, Trisomy of the short arm of chromosome 5]","Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.",,,,,,Chromosome 5p duplication,TRUE,FALSE,Active +GARD:6095,Active,Orphanet,ORPHA:1448,Disorder,[Malformation syndrome],Ring chromosome 6 syndrome,"[Ring 6, Ring chromosome 6]","Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.",,,,,,Ring chromosome 6,TRUE,FALSE,Active +GARD:6099,Legacy,GARD,,,,,,,,,,,,Chronic erosive gastritis,TRUE,FALSE,Active +GARD:61,Active,Orphanet,ORPHA:1988,Disorder,[Malformation syndrome],Femoral-facial syndrome,"[FFS, FHUFS, Femoral hypoplasia-unusual facies syndrome]",Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.,[134780],,,,,Femoral facial syndrome,TRUE,FALSE,Active +GARD:610,Legacy,GARD,,,,,,,,,,,,Alopecia macular degeneration growth retardation,TRUE,FALSE,Retired +GARD:6100,Active,Orphanet,ORPHA:379,Disorder,[Disease],Chronic granulomatous disease,"[CGD, Chronic septic granulomatosis]","A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.","[306400, 613960, 233710, 233690, 618935, 233700]",,,,,Chronic granulomatous disease,TRUE,FALSE,Active +GARD:6102,Active,Orphanet,ORPHA:2932,Disorder,[Disease],Chronic inflammatory demyelinating polyneuropathy,"[CIDP, Chronic inflammatory demyelinating polyradiculoneuropathy]","A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.",,,,,,Chronic inflammatory demyelinating polyneuropathy,TRUE,FALSE,Active +GARD:6104,Active,Orphanet,ORPHA:67038,Disorder,[Disease],B-cell chronic lymphocytic leukemia,"[B-CLL, B-cell chronic lymphoid leukemia, Small lymphocytic lymphoma]","B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.","[109543, 612558, 151400, 612559, 609630, 612557]",,,,,Chronic lymphocytic leukemia,TRUE,FALSE,Active +GARD:6105,Active,Orphanet,ORPHA:521,Disorder,[Disease],Chronic myeloid leukemia,"[CML, Chronic granulocytic leukemia, Chronic myelogenous leukemia]",Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.,[608232],,,,,Chronic myeloid leukemia,TRUE,FALSE,Active +GARD:6107,Active,Orphanet+OMIM,OMIM:257100,Subtype of disorder,[Disease subtype],"Neutropenia, lethal congenital, with eosinophilia",,"{1:Andrews et al. (1960)} described 2 affected sibs. The parents were not known to be related. It is not entirely certain that this is an entity separate from that listed as agranulocytosis ({202700}). It is possible that some cases of neonatal neutropenia are due to fetomaternal immunization involving neutrophil-specific antigens ({2:Lalezari and Radel, 1974}).",[257100],[486],[Autosomal dominant severe congenital neutropenia],[9558],,Neutropenia lethal congenital with eosinophilia,TRUE,FALSE,Active +GARD:6108,Active,Orphanet,ORPHA:324964,Disorder,[Disease],Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis,[CNO/CRMO],"Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.",[259680],,,,,Chronic recurrent multifocal osteomyelitis,TRUE,FALSE,Active +GARD:6111,Active,Orphanet,ORPHA:183,Disorder,[Disease],Eosinophilic granulomatosis with polyangiitis,"[Churg-Strauss syndrome, EGPA, Granulomatous allergic angiitis]","A rare systemic vasculitis of small vessels characterized by asthma, blood and tissue eosinophilia and vasculitis manifestations.",,,,,,Eosinophilic granulomatosis with polyangiitis,TRUE,FALSE,Active +GARD:6113,Legacy,GARD,,,,,,,,,,,,Ciguatera fish poisoning,TRUE,FALSE,Active +GARD:6114,Active,Orphanet,ORPHA:247525,Disorder,[Disease],Citrullinemia type I,"[ASS deficiency, Argininosuccinate synthase deficiency, Argininosuccinate synthetase deficiency, Argininosuccinic acid synthase deficiency, Argininosuccinic acid synthetase deficiency, CTLN1, Citrullinemia type 1, Classic citrullinemia]","Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term).",[215700],,,,,Citrullinemia type I,TRUE,FALSE,Active +GARD:6118,Active,Orphanet,ORPHA:1452,Disorder,[Malformation syndrome],Cleidocranial dysplasia,[Cleidocranial dysostosis],"Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.","[216330, 119600]",,,,,Cleidocranial dysplasia,TRUE,FALSE,Active +GARD:612,Active,Orphanet,ORPHA:2850,Disorder,[Disease],Alopecia-intellectual disability syndrome,[Perniola-Krajewska-Carnevale syndrome],"An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.","[203650, 610422, 618840, 613930]",,,,,Alopecia-intellectual disability syndrome,TRUE,FALSE,Active +GARD:6121,Active,Orphanet,ORPHA:190,Disorder,[Disease],Coats disease,"[Congenital retinal telangiectasia, Leber miliary aneurysm]","Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.",[300216],,,,,Coats disease,TRUE,FALSE,Active +GARD:6122,Active,Orphanet,ORPHA:191,Disorder,[Disease],Cockayne syndrome,,"Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.","[610758, 214150, 610756, 616570, 216400, 133540, 278780]",,,,,Cockayne syndrome,TRUE,FALSE,Active +GARD:6123,Active,Orphanet,ORPHA:192,Disorder,[Malformation syndrome],Coffin-Lowry syndrome,[CLS],"A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.",[303600],,,,,Coffin-Lowry syndrome,TRUE,FALSE,Active +GARD:6124,Active,Orphanet,ORPHA:1465,Disorder,[Malformation syndrome],Coffin-Siris syndrome,[CSS],"A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations.","[618779, 615866, 617808, 619325, 618506, 614607, 135900, 614608, 616938, 618027, 618362, 614609]",,,,,Coffin-Siris syndrome,TRUE,FALSE,Active +GARD:6125,Active,Orphanet,ORPHA:98980,Subtype of disorder,[Clinical subtype],Cogan-Reese syndrome,,"A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.",,,,,,Cogan-Reese syndrome,TRUE,FALSE,Active +GARD:6126,Active,Orphanet,ORPHA:193,Disorder,[Malformation syndrome],Cohen syndrome,,"A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.",[216550],,,,,Cohen syndrome,TRUE,FALSE,Active +GARD:613,Active,Orphanet,ORPHA:700,Disorder,[Disease],Alopecia totalis,,"A form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.","[300042, 610753, 104000]",,,,,Alopecia totalis,TRUE,FALSE,Active +GARD:6130,Active,Orphanet,ORPHA:56425,Disorder,[Disease],Cold agglutinin disease,"[CAD, CAS, Chronic cold agglutinin disease, Cold agglutinin syndrome]",Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C).,,,,,,Cold agglutinin disease,TRUE,FALSE,Active +GARD:6131,Legacy,GARD,,,,,,,,,,,,Cold urticaria,TRUE,FALSE,Active +GARD:6135,Legacy,GARD,,,,,,,,,,,,Collagenous colitis,FALSE,FALSE,Active +GARD:6137,Legacy,GARD,,,,,,,,,,,,Colonic malakoplakia,TRUE,FALSE,Active +GARD:614,Active,Orphanet,ORPHA:701,Disorder,[Disease],Alopecia universalis,,"A disorder of most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.","[203655, 610753, 104000]",,,,,Alopecia universalis,TRUE,FALSE,Active +GARD:6140,Active,Orphanet,ORPHA:1572,Disorder,[Disease],Common variable immunodeficiency,"[CVID, Idiopathic immunoglobulin deficiency, Primary antibody deficiency, Primary hypogammaglobulinemia]","Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.","[613494, 146830, 607594, 240500, 613495, 613496, 613493, 615577, 616576, 614699]",,,,,Common variable immunodeficiency,TRUE,FALSE,Active +GARD:6141,Legacy,GARD,,,,,,,,,,,,Compartment syndrome,TRUE,FALSE,Active +GARD:6145,Active,Orphanet+OMIM,OMIM:120970,Subtype of disorder,[Disease subtype],Cone-rod dystrophy 2,"[retinal cone-rod dystrophy, cone-rod retinal dystrophy, Cone-rod dystrophy]","Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina ({10:Moore, 1992}). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found ({12:Tzekov, 1998}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Cone-Rod Dystrophy\n\nThere are several other autosomal forms of CORD for which the molecular basis is known. CORD3 ({604116}) is caused by mutation in the ABCA4 gene ({601691}) on chromosome 1p22. CORD5 ({600977}) is caused by mutation in the PITPNM3 gene ({608921}) on chromosome 17p13. CORD6 ({601777}) is caused by mutation in the GUCY2D gene ({600179}) on chromosome 17p13.1. CORD7 ({603649}) is caused by mutation in the RIMS1 gene ({606629}) on chromosome 6q13. CORD9 ({612775}) is caused by mutation in the ADAM9 gene ({602713}) on chromosome 8p11. CORD10 ({610283}) is caused by mutation in the SEMA4A gene ({607292}) on chromosome 1q22. CORD11 ({610381}) is caused by mutation in the RAXL1 gene ({610362}) on chromosome 19p13. CORD12 ({612657}) is caused by mutation in the PROM1 gene ({604365}) on chromosome 4p15. CORD13 ({608194}) is caused by mutation in the RPGRIP1 gene ({605446}) on chromosome 14q11. CORD14 (see {602093}) is caused by mutation in the GUCA1A gene ({600364}) on chromosome 6p21. CORD15 ({613660}) is caused by mutation in the CDHR1 gene ({609502}) on chromosome 10q23. CORD16 ({614500}) is caused by mutation in the C8ORF37 gene ({614477}) on chromosome 8q22. CORD18 ({615374}) is caused by mutation in the RAB28 gene ({612994}) on chromosome 4p15. CORD19 ({615860}) is caused by mutation in the TTLL5 gene ({612268}) on chromosome 14q24. CORD20 ({615973}) is caused by mutation in the POC1B gene ({614784}) on chromosome 12q21. CORD21 ({616502}) is caused by mutation in the DRAM2 gene ({613360}) on chromosome 1p13. CORD22 ({619531}) is caused by mutation in the TLCD3B gene ({615175}) on chromosome 16p11.\n\nA diagnosis of CORD was made in an individual with a mutation in the AIPL1 gene ({604392.0004}) on chromosome 17p13.1, as well as in an individual with a mutation in the UNC119 gene ({604011.0001}) on chromosome 17q11.2.\n\nOther mapped loci for autosomal CORD include CORD1 ({600624}) on chromosome 18q21.1-q21.3; CORD8 ({605549}) on chromosome 1q12-q24; and CORD17 ({615163}) on chromosome 10q26.\n\nFor a discussion of X-linked forms of cone-rod dystrophy, see CORDX1 ({304020}).",[120970],[1872],[Cone rod dystrophy],[10790],,Cone-rod dystrophy 2,TRUE,FALSE,Active +GARD:6148,Active,Orphanet,ORPHA:82,Disorder,[Disease],Hereditary thrombophilia due to congenital antithrombin deficiency,[Hereditary thrombophilia due to congenital antithrombin 3 deficiency],"Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).",[613118],,,,,Hereditary antithrombin deficiency,TRUE,FALSE,Active +GARD:6149,Legacy,GARD,,,,,,,,,,,,Congenital aplastic anemia,TRUE,FALSE,Active +GARD:615,Legacy,GARD,,,,,,,,,,,,Alopecia universalis onychodystrophy vitiligo,TRUE,FALSE,Active +GARD:6150,Legacy,GARD,,,,,,,,,,,,Congenital arteriovenous shunt,TRUE,FALSE,Active +GARD:6154,Legacy,GARD,,,,,,,,,,,,Congenital cardiovascular shunt,TRUE,FALSE,Active +GARD:616,Legacy,GARD,,,,,,,,,,,,Alpha-2 deficient collagen disease,TRUE,FALSE,Retired +GARD:6161,Active,Orphanet,ORPHA:2020,Disorder,[Disease],Congenital fiber-type disproportion myopathy,[CFTDM],"A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.","[617760, 255310, 300580]",,,,,Congenital fiber type disproportion,TRUE,FALSE,Active +GARD:6163,Legacy,GARD,,,,,,,,,,,,Congenital generalized fibromatosis,TRUE,FALSE,Retired +GARD:6164,Active,Orphanet,ORPHA:60041,Disorder,[Disease],Congenital heart block,[Congenital atrioventricular block],"Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic.",[234700],,,,,Congenital heart block,TRUE,FALSE,Active +GARD:6167,Legacy,GARD,,,,,,,,,,,,Congenital hemolytic anemia,TRUE,FALSE,Active +GARD:6168,Active,Orphanet+OMIM,OMIM:263200,Subtype of disorder,[Disease subtype],Polycystic kidney disease 4 with or without polycystic liver disease,"[pkd3, formerly, Polycystic kidney disease 4 with or without hepatic disease, polycystic kidney and hepatic disease 1, polycystic kidney disease, infantile, type i, polycystic kidney disease, autosomal recessive]","PKD4 is an autosomal recessive polycystic kidney disease (ARPKD) characterized by enlarged, echogenic kidneys with fusiform dilatation of the collecting ducts. Most patients progress to end-stage renal disease (ESRD), but at varying ages. Patients also have liver disease consisting of dilated biliary ducts, congenital hepatic fibrosis (CHF), and portal hypertension (Caroli disease). The most typical disease expression occurs in neonates and includes a history of oligohydramnios, massively enlarged kidneys, and the 'Potter' sequence with pulmonary hypoplasia that leads to respiratory insufficiency and perinatal death in approximately 30% of affected newborns (summary by {23:Hartung and Guay-Woodford, 2014}).\n\nFor a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 ({173900}).",[263200],[731],[Autosomal recessive polycystic kidney disease],[8378],,Congenital hepatic fibrosis,TRUE,FALSE,Active +GARD:6169,Active,Orphanet,ORPHA:95159,Disorder,[Disease],Hepatoerythropoietic porphyria,[HEP],Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.,[176100],,,,,Hepatoerythropoietic porphyria,TRUE,FALSE,Active +GARD:617,Active,Orphanet,ORPHA:31,Disorder,[Disease],Oxoglutaric aciduria,[Alpha-ketoglutarate dehydrogenase deficiency],"A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.",[203740],,,,,Alpha-ketoglutarate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:6170,Legacy,GARD,,,,,,,,,,,,Congenital hypomyelination neuropathy,TRUE,FALSE,Retired +GARD:6176,Active,Orphanet+OMIM,OMIM:160800,Subtype of disorder,[Disease subtype],"Myotonia congenita, autosomal dominant",[Thomsen disease],"Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction ({27:Sun et al., 2001}). Thomsen disease is less common and less severe than Becker disease.\n\nSee also paramyotonia congenita (PMC; {168300}) and potassium-aggravated myotonia ({608390}), overlapping phenotypes caused by mutations in the SCN4A gene ({603967}).",[160800],[614],[Thomsen and Becker disease],[12301],,Myotonia congenita autosomal dominant,TRUE,FALSE,Retired +GARD:6177,Legacy,GARD,,,,,,,,,,,,Congenital nonhemolytic jaundice,TRUE,FALSE,Active +GARD:6183,Legacy,GARD,,,,,,,,,,,,Congenital sucrose isomaltose malabsorption,TRUE,FALSE,Retired +GARD:6187,Legacy,GARD,,,,,,,,,,,,Ligneous conjunctivitis,TRUE,FALSE,Active +GARD:6188,Legacy,GARD,,,,,,,,,,,,Conn's syndrome,TRUE,FALSE,Retired +GARD:6189,Active,Orphanet,ORPHA:35173,Disorder,[Disease],X-linked dominant chondrodysplasia punctata,"[CDPX2, CDPXD, CPXD, Chondrodystrophia calcificans congenita, Conradi-Hünermann-Happle syndrome, X-linked chondrodysplasia punctata type 2]","A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.",[302960],,,,,X-linked dominant chondrodysplasia punctata 2,TRUE,FALSE,Active +GARD:6191,Legacy,GARD,,,,,,,,,,,,Conversion disorder,TRUE,FALSE,Active +GARD:6193,Legacy,GARD,,,,,,,,,,,,Cor biloculare,TRUE,FALSE,Active +GARD:6194,Active,Orphanet,ORPHA:1463,Group of disorders,[Clinical group],Triatrial heart,[Cor triatriatum],,,,,,,Cor triatriatum,TRUE,FALSE,Active +GARD:6196,Active,Orphanet,ORPHA:293603,Disorder,[Disease],Congenital hereditary endothelial dystrophy type II,"[Autosomal recessive CHED, Autosomal recessive congenital hereditary endothelial dystrophy, CHED2, CHEDII, Congenital hereditary endothelial dystrophy type 2, Infantile hereditary endothelial dystrophy, Maumenee corneal dystrophy]","Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.",[217700],,,,,Corneal endothelial dystrophy type 2,TRUE,FALSE,Active +GARD:62,Active,Orphanet,ORPHA:3255,Disorder,[Malformation syndrome],Filippi syndrome,[Type 1 syndactyly-microcephaly-intellectual disability syndrome],"Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.",[272440],,,,,Filippi syndrome,TRUE,FALSE,Active +GARD:6200,Legacy,GARD,,,,,,,,,,,,Coronary artery aneurysm,TRUE,FALSE,Active +GARD:6202,Active,Orphanet,ORPHA:201,Disorder,[Disease],Cowden syndrome,"[Cowden disease, Multiple hamartoma syndrome]","A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.","[158350, 615107, 615108, 616858, 615109]",,,,,Cowden syndrome,TRUE,FALSE,Active +GARD:6205,Active,Orphanet,ORPHA:581271,Disorder,[Disease],Cramp-fasciculation syndrome,,,,,,,,Cramp-fasciculation syndrome,TRUE,FALSE,Active +GARD:6206,Active,Orphanet,ORPHA:207,Disorder,[Malformation syndrome],Crouzon syndrome,[Crouzon craniofacial dysostosis],Crouzon disease is characterized by craniosynostosis and facial hypoplasia.,[123500],,,,,Crouzon syndrome,TRUE,FALSE,Active +GARD:6209,Active,Orphanet,ORPHA:1531,Group of disorders,[Category],Craniosynostosis,,Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.,,,,,,Craniosynostosis,TRUE,FALSE,Active +GARD:621,Active,Orphanet,ORPHA:846,Disorder,[Disease],Alpha-thalassemia,,A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.,[604131],,,,,Alpha-thalassemia,TRUE,FALSE,Active +GARD:6211,Legacy,GARD,,,,,,,,,,,,Neonatal hypothyroidism,TRUE,FALSE,Retired +GARD:6213,Active,Orphanet,ORPHA:281,Disorder,[Malformation syndrome],Monosomy 5p,"[Cri du chat syndrome, Deletion 5p]","A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of intellectual disability, developmental delay, microcephaly, and facial dysmorphism.",[123450],,,,,Cri du chat syndrome,TRUE,FALSE,Active +GARD:6217,Active,Orphanet,ORPHA:91139,Disorder,[Disease],Simple cryoglobulinemia,[Cryoglobulinemia type 1],Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.,,,,,,Simple cryoglobulinemia,TRUE,FALSE,Active +GARD:6218,Active,Orphanet,ORPHA:1546,Disorder,[Disease],Cryptococcosis,,A cosmopolitan fungal infection due to Cryptococcus neoformans.,,,,,,Cryptococcosis,TRUE,FALSE,Active +GARD:6219,Legacy,GARD,,,,,,,,,,,,Cryptosporidiosis,TRUE,FALSE,Active +GARD:6224,Active,Orphanet,ORPHA:553,Group of disorders,[Clinical group],Cushing syndrome,"[Hyperadrenocorticism, Hypercortisolism]",Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.,,,,,,Cushing's syndrome,TRUE,FALSE,Active +GARD:6225,Active,Orphanet,ORPHA:535,Group of disorders,[Clinical group],Rare cutaneous lupus erythematosus,,Rare cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE).,,,,,,Cutaneous lupus erythematosus,TRUE,FALSE,Active +GARD:6226,Active,Orphanet,ORPHA:171901,Group of disorders,[Category],Primary cutaneous T-cell lymphoma,,,,,,,,Cutaneous T-cell lymphoma,TRUE,FALSE,Active +GARD:6227,Active,Orphanet,ORPHA:209,Group of disorders,[Clinical group],Cutis laxa,,"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.",,,,,,Cutis laxa,TRUE,FALSE,Active +GARD:6228,Active,Orphanet,ORPHA:1556,Disorder,[Malformation syndrome],Cutis marmorata telangiectatica congenita,[CMTC],"Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.",[219250],,,,,Cutis marmorata telangiectatica congenita,TRUE,FALSE,Active +GARD:6229,Active,Orphanet,ORPHA:2686,Disorder,[Disease],Cyclic neutropenia,,"A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.",[162800],,,,,Cyclic neutropenia,TRUE,FALSE,Active +GARD:6230,Legacy,GARD,,,,,,,,,,,,Cyclic vomiting syndrome,FALSE,FALSE,Active +GARD:6232,Legacy,GARD,,,,,,,,,,,,Cystic adenomatoid malformation of lung,TRUE,FALSE,Active +GARD:6233,Active,Orphanet,ORPHA:586,Disorder,[Disease],Cystic fibrosis,"[CF, Mucoviscidosis]","A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.",[219700],,,,,Cystic fibrosis,TRUE,FALSE,Active +GARD:6234,Legacy,GARD,,,,,,,,,,,,Cystic hygroma,TRUE,FALSE,Active +GARD:6236,Active,Orphanet,ORPHA:213,Disorder,[Disease],Cystinosis,[Protein defect of cystin transport],"A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.","[219750, 219900, 219800]",,,,,Cystinosis,TRUE,FALSE,Active +GARD:6237,Active,Orphanet,ORPHA:214,Disorder,[Disease],Cystinuria,[Cystinuria-lysinuria syndrome],A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones.,[220100],,,,,Cystinuria,TRUE,FALSE,Active +GARD:624,Active,Orphanet,ORPHA:88918,Subtype of disorder,[Clinical subtype],Autosomal dominant Alport syndrome,,,[104200],,,,,Autosomal dominant Alport syndrome,TRUE,FALSE,Active +GARD:6240,Legacy,GARD,,,,,,,,,,,,D-minus hemolytic uremic syndrome (D-HUS),TRUE,FALSE,Active +GARD:6241,Legacy,GARD,,,,,,,,,,,,D-plus hemolytic uremic syndrome (D+HUS),TRUE,FALSE,Active +GARD:6242,Active,Orphanet,ORPHA:217,Disorder,[Morphological anomaly],Isolated Dandy-Walker malformation,,"A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.",[220200],,,,,Dandy-Walker complex,TRUE,FALSE,Active +GARD:6243,Active,Orphanet,ORPHA:218,Disorder,[Disease],Darier disease,"[Darier-White disease, Keratosis follicularis]","A rare, genetic keratinization disorder which is classically characterized by keratotic papules, acral pits, and acral wart-like lesions that can be associated with a trigger, and may occur anywhere on the body (including mucosal surfaces). Extracutaneous manifestations may include, nail anomalies, blepharitis, dry eye, neuropsychiatric illness and, recurrent parotid gland obstruction and xerostomia.",[124200],,,,,Darier disease,TRUE,FALSE,Active +GARD:6249,Active,Orphanet,ORPHA:679,Disorder,[Disease],Malignant atrophic papulosis,"[Degos disease, Köhlmeier-Degos disease, Köhlmeier-Degos-Delort-Tricort syndrome, Papulosis atrophican maligna]","Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.",[602248],,,,,Malignant Atrophic Papulosis,TRUE,FALSE,Active +GARD:625,Active,Orphanet,ORPHA:88919,Subtype of disorder,[Clinical subtype],Autosomal recessive Alport syndrome,,,[203780],,,,,Autosomal recessive Alport syndrome,TRUE,FALSE,Active +GARD:6254,Active,Orphanet,ORPHA:99828,Disorder,[Disease],Dengue fever,"[DF, Dengue virus infection]","Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).",[614371],,,,,Dengue fever,TRUE,FALSE,Active +GARD:6256,Legacy,GARD,,,,,,,,,,,,Calcifying Epithelial Odontogenic Tumor,TRUE,FALSE,Active +GARD:6258,Active,Orphanet,ORPHA:49042,Disorder,[Disease],Dentinogenesis imperfecta,"[DGI, DGI without OI, DI, Dentinogenesis imperfecta without osteogenesis imperfecta, Non-syndromic DGI, Non-syndromic dentinogenesis imperfecta, Opalescent teeth without OI, Opalescent teeth without osteogenesis imperfecta]",Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development.,,,,,,Dentinogenesis imperfecta ,TRUE,FALSE,Active +GARD:6260,Legacy,GARD,,,,,,,,,,,,Depersonalization/derealization disorder,TRUE,FALSE,Active +GARD:6263,Active,Orphanet,ORPHA:221,Disorder,[Disease],Dermatomyositis,[Adult dermatomyositis],"A rare idiopathic inflammatory myopathy (IIM) characterized by evocative skin lesions, muscle involvement with symmetrical proximal muscle weakness, and specific histological features. The clinical subtypes are defined by the presence of myositis-specific antibodies (anti-Mi2, anti-NXP2, anti-TIF1-γ, anti-MDA5, or anti-SAE antibodies) and are associated with specific clinical phenotypes and prognosis.",,,,,,Dermatomyositis,TRUE,FALSE,Active +GARD:6265,Active,Orphanet,ORPHA:83469,Disorder,[Disease],Desmoplastic small round cell tumor,[DSRCT],"An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.",,,,,,Desmoplastic small round cell tumor,TRUE,FALSE,Active +GARD:6267,Active,Orphanet,ORPHA:71211,Disorder,[Disease],Neuromyelitis optica spectrum disorder,"[Devic disease, NMOSD]",A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.,,,,,,Neuromyelitis optica spectrum disorder,TRUE,FALSE,Active +GARD:6268,Legacy,GARD,,,,,,,,,,,,Dextrocardia with situs inversus,TRUE,FALSE,Active +GARD:6274,Active,Orphanet,ORPHA:124,Disorder,[Disease],Blackfan-Diamond anemia,"[Aase syndrome, Aase-Smith II syndrome, Congenital PRCA, Congenital hypoplastic anemia, Blackfan-Diamond type, Congenital pure red cell aplasia, Diamond-Blackfan anemia]",Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.,"[615550, 617408, 613308, 606164, 610629, 617409, 612561, 606129, 618310, 613309, 618312, 614900, 612562, 615909, 612527, 612563, 612528, 105650, 300946, 618313]",,,,,Diamond-Blackfan anemia,TRUE,FALSE,Active +GARD:6275,Active,Orphanet,ORPHA:628,Disorder,[Disease],Diastrophic dysplasia,[Diastrophic dwarfism],"A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).",[222600],,,,,Diastrophic dysplasia,TRUE,FALSE,Active +GARD:6276,Active,Orphanet,ORPHA:1672,Disorder,[Disease],Diencephalic syndrome,"[Diencephalic cachexia, Diencephalic syndrome of childhood, Diencephalic syndrome of emaciation, Russell diencephalic cachexia, Russell syndrome]","Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.",,,,,,Diencephalic syndrome,TRUE,FALSE,Active +GARD:6285,Legacy,GARD,,,,,,,,,,,,Doxorubicin induced cardiomyopathy,TRUE,FALSE,Active +GARD:6286,Active,Orphanet,ORPHA:231,Disorder,[Disease],Dracunculiasis,"[Dracunculosis, Guinea worm disease, Medina worm disease, Medinensis]","Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).",,,,,,Dracunculiasis,TRUE,FALSE,Active +GARD:6288,Active,Orphanet,ORPHA:233,Disorder,[Malformation syndrome],Duane retraction syndrome,"[DRS, DURS, Duane syndrome, Stilling-Turk-Duane syndrome]","A rare, ocular congenital cranial dysinnervation disorder characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction.","[617041, 604356, 616219, 126800]",,,,,Duane syndrome,TRUE,FALSE,Active +GARD:6289,Legacy,GARD,,,,,,,,,,,,Dubin-Johnson syndrome,TRUE,FALSE,Active +GARD:6290,Active,Orphanet,ORPHA:235,Disorder,[Malformation syndrome],Dubowitz syndrome,,"Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.",[223370],,,,,Dubowitz syndrome,TRUE,FALSE,Active +GARD:6291,Active,Orphanet,ORPHA:98896,Disorder,[Disease],Duchenne muscular dystrophy,"[DMD, Severe dystrophinopathy, Duchenne type]","A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.",[310200],,,,,Duchenne muscular dystrophy,TRUE,FALSE,Active +GARD:6294,Legacy,GARD,,,,,,,,,,,,Dwarfism Levi type,TRUE,FALSE,Active +GARD:6295,Active,Orphanet,ORPHA:239,Disorder,[Disease],Dyggve-Melchior-Clausen disease,,"A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests)","[223800, 304950]",,,,,Dyggve-Melchior-Clausen syndrome,TRUE,FALSE,Active +GARD:6299,Active,Orphanet+OMIM,OMIM:127550,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal dominant 1","[Dyskeratosis congenita, scoggins type]","Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, among others (review by {3:Bessler et al., 2007} and {4:Bessler et al., 2010}).\n\nHoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by {16:Walne et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome\n\nDyskeratosis congenita is a genetically heterogeneous disorder, showing autosomal recessive, autosomal dominant, and X-linked inheritance. Additional autosomal dominant forms include DKCA2 ({613989}), caused by mutation in the TERT gene ({187270}) on chromosome 5p15; DKCA3 ({613990}), caused by mutation in the TINF2 gene ({604319}) on chromosome 14q12; DKCA4 (see {615190}), caused by mutation in the RTEL1 gene ({608833}) on chromosome 20q13, DKCA5 ({268130}), caused by mutation in the TINF2 gene ({604319}) on chromosome 14q12, and DKCA6 ({616553}), caused by mutation in the ACD gene ({609377}) on chromosome 16q22.\n\nAutosomal recessive forms include DKCB1 ({224230}), caused by mutation in the NOLA3 gene ({606471}) on chromosome 15q14; DKCB2 ({613987}), caused mutation in the NOLA2 gene ({606470}) on chromosome 5q35; DKCB3 ({613988}), caused by mutation in the TCAB1 gene (WRAP53; {612661}) on chromosome 17p13; DKCB4 (see {613989}), caused by mutation in the TERT gene; DKCB5 ({615190}), caused by mutation in the RTEL1 gene ({608833}) on chromosome 20q13; DKCB6 ({616353}), caused by mutation in the PARN gene ({604212}) on chromosome 16p13; and DKCB7 (see {616553}), caused by mutation in the ACD gene ({609377}) on chromosome 16q22. X-linked recessive DKCX ({305000}) is caused by mutation in the dyskerin gene (DKC1; {300126}) on Xq28.\n\nHoyeraal-Hreidarsson syndrome, the severe clinical variant of DKC, can be caused by mutation in several different DKC-associated genes; see, e.g., DKC1 ({300136}), TINF2 ({604319}), TERT ({187270}), and RTEL1 ({608833}).\n\nSee also adult-onset telomere-related pulmonary fibrosis and/or bone marrow failure-1 and -2 (PFBMFT1, {614742} and PFBMFT2, {614743}), which are caused by mutations in the TERT and TERC genes, respectively. These disorders share some features of DKC, but show later onset and do not have skin abnormalities. The disorders related to telomere shortening are part of a phenotypic spectrum.\n\nMutation in the CTC1 gene ({613129}) on chromosome 17p13 causes cerebroretinal microangiopathy with calcifications and cysts (CRMCC; {612199}), another telomere-related disorder with overlapping features of DKC.",[127550],[1775],[Dyskeratosis congenita],[10905],,Dyskeratosis congenita autosomal dominant,TRUE,FALSE,Active +GARD:63,Legacy,GARD,,,,,,,,,,,,Forbes Albright syndrome,TRUE,FALSE,Retired +GARD:6300,Active,Orphanet+OMIM,OMIM:224230,Subtype of disorder,[Disease subtype],"Dyskeratosis congenita, autosomal recessive 1",,"Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by {7:Kirwan and Dokal, 2008}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550}).",[224230],[1775],[Dyskeratosis congenita],[10905],,Dyskeratosis congenita autosomal recessive,TRUE,FALSE,Active +GARD:6308,Active,Orphanet,ORPHA:79408,Disorder,[Disease],"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form","[Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type, Generalized RDEB, severe form, RDEB generalisata gravis, RDEB, Hallopeau-Siemens type, Severe generalized RDEB]",A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.,[226600],,,,,Severe generalized recessive dystrophic epidermolysis bullosa,TRUE,FALSE,Active +GARD:6309,Active,Orphanet,ORPHA:40923,Disorder,[Disease],Eales disease,"[Idiopathic retinal perivasculitis, Idiopathic retinal vasculitis]","A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.",,,,,,Eales disease,TRUE,FALSE,Active +GARD:6313,Active,Orphanet,ORPHA:1880,Disorder,[Morphological anomaly],Ebstein malformation of the tricuspid valve,[Ebstein anomaly of the tricuspid valve],"A rare congenital cardiac anomaly characterized by downward (apical) displacement of the functional annulus, due to incomplete delamination of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. The anterosuperior leaflet is often abnormal (redundancy, fenestrations, tethering with abnormal subvalvar apparatus). The atrioventricular junction and the ''atrialized'' portion of the right ventricle are dilated, with variable degrees of thinning of the right ventricular wall.",[224700],,,,,Ebstein's anomaly,TRUE,FALSE,Active +GARD:6314,Legacy,GARD,,,,,,,,,,,,Eccentrochondrodysplasia,TRUE,FALSE,Active +GARD:6315,Legacy,GARD,,,,,,,,,,,,Eccrine acrospiromas,TRUE,FALSE,Retired +GARD:6316,Legacy,GARD,,,,,,,,,,,,Eclampsia,TRUE,FALSE,Active +GARD:6317,Active,Orphanet,ORPHA:79373,Group of disorders,[Category],Ectodermal dysplasia syndrome,[Ectodermal dysplasia],"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.",,,,,,Ectodermal dysplasia,TRUE,FALSE,Active +GARD:6318,Legacy,GARD,,,,,,,,,,,,Ectopic pregnancy,TRUE,FALSE,Active +GARD:6319,Active,Orphanet,ORPHA:2440,Disorder,[Malformation syndrome],Isolated split hand-split foot malformation,"[Ectrodactyly, SHFM, Split hand foot malformation]","A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes.","[313350, 606708, 605289, 225300, 183600, 246560]",,,,,Split hand foot malformation,TRUE,FALSE,Active +GARD:632,Legacy,GARD,,,,,,,,,,,,Familial Alzheimer disease,TRUE,FALSE,Active +GARD:6321,Active,Orphanet,ORPHA:3380,Disorder,[Malformation syndrome],Trisomy 18,"[Chromosome 18 duplication, Edwards syndrome]","Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.",,,,,,Trisomy 18,TRUE,FALSE,Active +GARD:6322,Active,Orphanet,ORPHA:98249,Group of disorders,[Clinical group],Ehlers-Danlos syndrome,[EDS],"A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.",,,,,,Ehlers-Danlos syndromes,TRUE,FALSE,Active +GARD:6323,Active,Orphanet,ORPHA:97214,Disorder,[Malformation syndrome],Eisenmenger syndrome,,A rare respiratory disease associated with unoperated congenital heart disease and characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.,,,,,,Eisenmenger syndrome,TRUE,FALSE,Active +GARD:6324,Legacy,GARD,,,,,,,,,,,,Elective mutism,TRUE,FALSE,Active +GARD:6329,Active,Orphanet,ORPHA:261,Disorder,[Disease],Emery-Dreifuss muscular dystrophy,[EDMD],"A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.","[612998, 616516, 612999, 181350, 614302, 310300, 300696]",,,,,Emery-Dreifuss muscular dystrophy,TRUE,FALSE,Active +GARD:6331,Legacy,GARD,,,,,,,,,,,,Empty sella syndrome,TRUE,FALSE,Active +GARD:6332,Active,Orphanet,ORPHA:83600,Disorder,[Disease],Encephalitis lethargica,[Von Economo encephalitis],"A rare brain inflammatory disease characterized by acute or subacute encephalitis with involvement of the midbrain and basal ganglia occurring in children as well as adults. Initial symptoms are pharyngitis and fever, followed by progressive lethargy, sleep disturbances, extrapyramidal symptoms (parkinsonism, chorea, dystonia), neuropsychiatric manifestations (obsessive-compulsive behavior, mutism, catatonia), and ocular features (oculogyric crises). Autoantibodies against human basal ganglia are often positive. Survivors may develop post-encephalitic syndromes, most prominently parkinsonism.",,,,,,Encephalitis lethargica,TRUE,FALSE,Active +GARD:6333,Active,Orphanet,ORPHA:199647,Disorder,[Morphological anomaly],Isolated encephalocele,,"A rare, neural tube closure defect characterized by partial lacking of bone fusion, resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head, but most often affects the occipital area. Depending in the size nad location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia, and hydrocephalus.",,,,,,Encephalocele,TRUE,FALSE,Active +GARD:6335,Legacy,GARD,,,,,,,,,,,,Enchondroma,TRUE,FALSE,Active +GARD:6336,Active,Orphanet,ORPHA:2022,Disorder,[Disease],Endocardial fibroelastosis,[Endomyocardial fibroelastosis],"Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.",[226000],,,,,Endocardial fibroelastosis,TRUE,FALSE,Active +GARD:6337,Active,Orphanet,ORPHA:570762,Disorder,[Disease],Infective endocarditis,"[Bacterial endocarditis, Infectious endocarditis]","A rare bacterial infectious disease characterized by infection of a native or prosthetic heart valve, the endocardial surface, or an indwelling cardiac device. Main causative agents are Gram-positive bacteria, most commonly Staphylococcus and Streptococcus species. Signs and symptoms include high fever or prolonged subfebrile state, excessive sweating, malaise, asthenia, arthralgia, myalgia, weight loss, headache, nausea, dyspnea, cough, heart murmurs, and petechiae of the skin. The most common complications are embolism in different organs and ischemic stroke, sepsis, heart failure, and renal failure.",,,,,,Infective endocarditis,TRUE,FALSE,Active +GARD:6339,Active,Orphanet,ORPHA:213711,Disorder,[Disease],Endometrial stromal sarcoma,[Stromal sarcoma of the corpus uteri],,,,,,,Endometrial stromal sarcoma,TRUE,FALSE,Active +GARD:634,Active,Orphanet,ORPHA:65,Disorder,[Disease],Leber congenital amaurosis,[Amaurosis congenita of Leber],"Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.","[615360, 179900, 604232, 604537, 613829, 612712, 613837, 604393, 608553, 618513, 614186, 611755, 204100, 613341, 613826, 613835, 610612, 204000, 613843]",,,,,Leber congenital amaurosis,TRUE,FALSE,Active +GARD:6340,Legacy,GARD,,,,,,,,,,,,Endomyocardial fibrosis,TRUE,FALSE,Active +GARD:6342,Legacy,GARD,,,,,,,,,,,,Enterobiasis,TRUE,FALSE,Retired +GARD:6343,Legacy,GARD,,,,,,,,,,,,Enteropathica,TRUE,FALSE,Active +GARD:6345,Legacy,GARD,,,,,,,,,,,,Eosinophilia-myalgia syndrome,TRUE,FALSE,Active +GARD:6346,Legacy,GARD,,,,,,,,,,,,Eosinophilic cryptitis,TRUE,FALSE,Active +GARD:6347,Legacy,GARD,,,,,,,,,,,,Eosinophilic cystitis,TRUE,FALSE,Active +GARD:635,Active,Orphanet+OMIM,OMIM:204000,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 1,"[lca, retinal blindness, congenital, Amaurosis congenita of leber i]","Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {4:Chung and Traboulsi, 2009}).\n\n<Subhead> Genetic Heterogeneity of Leber Congenital Amaurosis\n\nLCA2 ({204100}) is caused by mutation in the RPE65 gene (RPE65; {180069}) on chromosome 1p31. LCA3 ({604232}) is caused by mutation in the SPATA7 gene ({609868}) on chromosome 14q31. LCA4 ({604393}) is caused by mutation in the AIPL1 gene ({604392}) on chromosome 17p13. LCA5 ({604537}) is caused by mutation in the LCA5 gene ({611408}) on chromosome 6q14. LCA6 ({613826}) is caused by mutation in the RPGRIP1 gene ({605446}) on chromosome 14q11. LCA7 ({613829}) is caused by mutation in the CRX gene ({602225}) on chromosome 19q13. LCA8 ({613835}) is caused by mutation in the CRB1 gene ({604210}) on chromosome 1q31. LCA9 ({608553}) is caused by mutation in the NMNAT1 gene ({608700}) on chromosome 1p36. LCA10 ({611755}) is caused by mutation in the CEP290 gene ({610142}) on chromosome 12q21 and may account for as many as 21% of cases of LCA. LCA11 ({613837}) is caused by mutation in the IMPDH1 gene ({146690}) on chromosome 7q32. LCA12 ({610612}) is caused by mutation in the RD3 gene ({180040}) on chromosome 1q32. LCA13 ({612712}) is caused by mutation in the RDH12 gene ({608830}) on chromosome 14q24. LCA14 ({613341}) is caused by mutation in the LRAT gene ({604863}) on chromosome 4q32. LCA15 ({613843}) is caused by mutation in the TULP1 gene ({602280}) on chromosome 6p21. LCA16 ({614186}) is caused by mutation in the KCNJ13 gene ({603208}) on chromosome 2q37. LCA17 ({615360}) is caused by mutation in the GDF6 gene ({601147}) on chromosome 8q22. LCA18 (see {608133}) is caused by mutation in the PRPH2 gene ({179605}) on chromosome 6p21. LCA19 ({618513}) is caused by mutation in the USP45 gene ({618439}) on chromosome 6q16.\n\n{23:Perrault et al. (1999)} provided a review of Leber congenital amaurosis, with emphasis on genetic heterogeneity.\n\n{34:Wiszniewski et al. (2011)} analyzed 13 known LCA genes in 60 LCA probands, and identified homozygous or compound heterozygous mutations in 42 (70%). In addition, a third disease-associated mutant allele at a second locus was identified in 7 (12%) of the 60 patients. {34:Wiszniewski et al. (2011)} stated that the significance of the third mutated allele was unknown, but suggested that mutational load might be important to penetrance of the LCA phenotype.\n\nBecause LCA manifests very early in life and results in profound vision loss, patients with mutations in other syndromic or nonsyndromic eye disease genes may receive an initial diagnosis of LCA, prior to development of syndromic features or before more thorough phenotyping can be performed (see, e.g., Senior-Loken syndrome-5, {609254}).",[204000],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 1,TRUE,FALSE,Active +GARD:6351,Active,Orphanet,ORPHA:3165,Disorder,[Disease],Eosinophilic fasciitis,"[Diffuse fasciitis with eosinophilia, Shulman syndrome]","A rare idiopathic inflammatory myopathy that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.",[226350],,,,,Eosinophilic fasciitis,TRUE,FALSE,Active +GARD:6352,Legacy,GARD,,,,,,,,,,,,Embryonal tumor with multilayered rosettes,TRUE,FALSE,Active +GARD:6353,Active,Orphanet,ORPHA:251636,Disorder,[Disease],Ependymoma,[Classic ependymoma],"Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.",,,,,,Ependymoma,TRUE,FALSE,Active +GARD:6355,Legacy,GARD,,,,,,,,,,,,Venezuelan equine encephalitis,TRUE,FALSE,Active +GARD:6357,Active,Orphanet,ORPHA:302,Disorder,[Disease],Epidermodysplasia verruciformis,"[Lewandowsky-Lutz syndrome, Lutz-Lewandowsky epidermodysplasia verruciformis]",Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.,"[618231, 618267, 226400, 618309, 305350]",,,,,Epidermodysplasia verruciformis,TRUE,FALSE,Active +GARD:6359,Legacy,GARD,,,,,,,,,,,,Epidermolysis bullosa,TRUE,FALSE,Active +GARD:636,Active,Orphanet+OMIM,OMIM:204100,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 2,[Amaurosis congenita of leber ii],"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {4:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}.",[204100],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 2,TRUE,FALSE,Active +GARD:6360,Active,Orphanet,ORPHA:46487,Disorder,[Disease],Epidermolysis bullosa acquisita,[Acquired epidermolysis bullosa],"A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient's serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of hereditary dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease.",,,,,,Epidermolysis bullosa acquisita,TRUE,FALSE,Active +GARD:6364,Legacy,GARD,,,,,,,,,,,,Epithelial-myoepithelial carcinoma,TRUE,FALSE,Active +GARD:6369,Active,Orphanet,ORPHA:35687,Disorder,[Disease],Erdheim-Chester disease,,"Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.",,,,,,Erdheim-Chester disease,TRUE,FALSE,Active +GARD:637,Active,Orphanet,ORPHA:1021,Disorder,[Disease],Amaurosis-hypertrichosis syndrome,,"A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumaleolar hypertrichosis). There have been no further descriptions in the literature since 1989.",[204110],,,,,Amaurosis congenita cone-rod type with congenital hypertrichosis,TRUE,FALSE,Active +GARD:6370,Legacy,GARD,,,,,,,,,,,,Erysipelas,TRUE,FALSE,Active +GARD:6372,Legacy,GARD,,,,,,,,,,,,Erythema multiforme,TRUE,FALSE,Active +GARD:6377,Active,Orphanet,ORPHA:90026,Disorder,[Disease],Primary erythromelalgia,[Primary erythermalgia],"Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.",[133020],,,,,Erythromelalgia,TRUE,FALSE,Active +GARD:6378,Legacy,GARD,,,,,,,,,,,,Erythroplakia,TRUE,FALSE,Active +GARD:6381,Active,Orphanet,ORPHA:1199,Disorder,[Morphological anomaly],Esophageal atresia,,"A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.",[189960],,,,,Esophageal atresia,TRUE,FALSE,Active +GARD:6383,Active,Orphanet,ORPHA:70482,Group of disorders,[Clinical group],Carcinoma of esophagus,[Esophageal carcinoma],Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).,,,,,,Esophageal cancer,TRUE,FALSE,Active +GARD:6384,Legacy,GARD,,,,,,,,,,,,Esophageal varices,TRUE,FALSE,Active +GARD:6386,Active,Orphanet,ORPHA:91138,Disorder,[Disease],Cryoglobulinemic vasculitis,"[Essential cryoglobulinemia, Essential mixed cryoglobulinemia, Mixed cryoglobulinemia, Primary cryoglobulinemia]","A rare immune complex-mediated vasculitis characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifesting clinically with the classical triad of purpura, weakness and arthralgia.",[123550],,,,,Cryoglobulinemic vasculitis,TRUE,FALSE,Active +GARD:6389,Active,Orphanet,ORPHA:1959,Disorder,[Disease],Evans syndrome,"[Autoimmune hemolytic anemia and autoimmune thrombocytopenia, Immune pancytopenia]","A rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.",,,,,,Evans syndrome,TRUE,FALSE,Active +GARD:6390,Active,Orphanet,ORPHA:319,Disorder,[Disease],Skeletal Ewing sarcoma,[Osseous Ewing sarcoma],Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.,[612219],,,,,Ewing sarcoma,TRUE,FALSE,Active +GARD:6392,Legacy,GARD,,,,,,,,,,,,Exercise-induced anaphylaxis,TRUE,FALSE,Active +GARD:6393,Legacy,GARD,,,,,,,,,,,,Exfoliative dermatitis,TRUE,FALSE,Active +GARD:6394,Legacy,GARD,,,,,,,,,,,,Exogenous lipoid pneumonia,TRUE,FALSE,Active +GARD:6398,Active,Orphanet,ORPHA:93930,Subtype of disorder,[Clinical subtype],Bladder exstrophy,[Classic exstrophy of the bladder],"A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.",[600057],,,,,Exstrophy of the bladder,TRUE,FALSE,Active +GARD:64,Active,Orphanet,ORPHA:3219,Disorder,[Malformation syndrome],Fountain syndrome,"[Deafness-skeletal dysplasia-coarse face with full lips syndrome, Deafness-skeletal dysplasia-lip granuloma syndrome, Hearing loss-skeletal dysplasia-coarse face with full lips syndrome, Hearing loss-skeletal dysplasia-lip granuloma syndrome]","Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.",[229120],,,,,Fountain syndrome,TRUE,FALSE,Active +GARD:640,Active,Orphanet,ORPHA:3319,Disorder,[Disease],Congenital amegakaryocytic thrombocytopenia,[CAMT],An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.,[604498],,,,,Congenital amegakaryocytic thrombocytopenia,TRUE,FALSE,Active +GARD:6400,Active,Orphanet,ORPHA:324,Disorder,[Disease],Fabry disease,"[Alpha-galactosidase A deficiency, Anderson-Fabry disease, Angiokeratoma corporis diffusum, Diffuse angiokeratoma, FD]","A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation.",[301500],,,,,Fabry disease,TRUE,FALSE,Active +GARD:6403,Legacy,GARD,,,,,,,,,,,,Factor V Leiden thrombophilia,FALSE,FALSE,Active +GARD:6404,Active,Orphanet,ORPHA:328,Disorder,[Disease],Congenital factor X deficiency,"[Congenital Stuart factor deficiency, Stuart-Prower factor deficiency]",A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.,[227600],,,,,Factor X deficiency,TRUE,FALSE,Active +GARD:6405,Active,Orphanet,ORPHA:599480,Disorder,[Disease],Acquired hemophilia A,"[AHA, Acquired F8 deficiency, Acquired factor VIII deficiency]",,,,,,,Acquired hemophilia A,TRUE,FALSE,Active +GARD:6406,Active,Orphanet,ORPHA:1980,Disorder,[Disease],Bilateral striopallidodentate calcinosis,"[BSPDC, Cerebrovascular ferrocalcinosis, Idiopathic basal ganglia calcification, PFBC, Primary familial brain calcification]","Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.","[615483, 616413, 618824, 615007, 213600]",,,,,Primary Familial Brain Calcification,TRUE,FALSE,Active +GARD:6407,Legacy,GARD,,,,,,,,,,,,Fairbank disease,TRUE,FALSE,Retired +GARD:6408,Active,Orphanet,ORPHA:733,Disorder,[Disease],Familial adenomatous polyposis,"[Colorectal adenomatous polyposis, FAP, Familial polyposis coli]",Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.,[175100],,,,,Familial adenomatous polyposis,TRUE,FALSE,Active +GARD:641,Legacy,GARD,,,,,,,,,,,,"Brachial amelia, cleft lip, and holoprosencephaly",TRUE,FALSE,Active +GARD:6410,Legacy,GARD,,,,,,,,,,,,Familial deafness,TRUE,FALSE,Active +GARD:6414,Active,Orphanet,ORPHA:444490,Disorder,[Disease],Familial chylomicronemia syndrome,,"A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, constipation, hepatosplenomegaly, eruptive xanthomas, and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis.","[207750, 238600, 615947, 118830]",,,,,Familial chylomicronemia syndrome,TRUE,FALSE,Active +GARD:6416,Legacy,GARD,,,,,,,,,,,,Familial hyperlipo-proteinemia type 1,TRUE,FALSE,Retired +GARD:6418,Legacy,GARD,,,,,,,,,,,,Hyperlipoproteinemia type 4,TRUE,FALSE,Active +GARD:6420,Legacy,GARD,,,,,,,,,,,,Familial hypothyroidism,FALSE,FALSE,Draft +GARD:6421,Active,Orphanet,ORPHA:342,Disorder,[Disease],Familial Mediterranean fever,"[Benign paroxysmal peritonitis, Benign recurrent polyserositis, FMF, Familial paroxysmal polyserositis, Periodic disease]","Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.","[134610, 249100]",,,,,Familial Mediterranean fever,TRUE,FALSE,Active +GARD:6422,Legacy,GARD,,,,,,,,,,,,Familial periodic paralysis,TRUE,FALSE,Active +GARD:6424,Legacy,GARD,,,,,,,,,,,,Familial Treacher Collins syndrome,TRUE,FALSE,Retired +GARD:6425,Active,Orphanet,ORPHA:84,Disorder,[Malformation syndrome],Fanconi anemia,[Fanconi pancytopenia],"A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.","[614083, 600901, 616435, 227645, 300514, 609053, 610832, 227646, 609054, 617243, 617883, 617244, 603467, 613390, 615272, 227650, 614082, 613951, 617247]",,,,,Fanconi anemia,TRUE,FALSE,Active +GARD:6426,Active,Orphanet,ORPHA:333,Disorder,[Disease],Farber disease,"[Acid ceramidase deficiency, Farber lipogranulomatosis]","A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.",[228000],,,,,Farber disease,TRUE,FALSE,Active +GARD:6427,Active,Orphanet,ORPHA:99906,Disorder,[Disease],Farmer's lung disease,,"Farmer's lung disease is the main form of occupational hypersensitivity pneumonitis (see this term), caused by chronic inhalation of microorganisms, often thermophilic actinomycetes and less commonly saccharopolyspora rectivirgula, living in mouldy hay, straw, or grain. It is characterized by variable degrees of dyspnea, cough, tiredness, headaches and occasional fever/night sweats, with acute, sub-acute or chronic clinical course",,,,,,Farmer's lung,TRUE,FALSE,Active +GARD:6428,Legacy,GARD,,,,,,,,,,,,Fascioliasis,TRUE,FALSE,Active +GARD:6429,Active,Orphanet,ORPHA:466,Disorder,[Disease],Fatal familial insomnia,,"A rare inherited human prion disease characterized by adult onset of progressive disturbance and loss of circadian rhythms, dysautonomia with increased sympathetic activity, and cognitive impairment with fluctuating vigilance, impaired long-term memory, disorientation, and oneiric states. Motor disturbances include myoclonus, cerebellar ataxia, and pyramidal signs. The disease rapidly leads to a somnolent or comatose state and is typically fatal after 9 or 30 months on average (bimodal course). Neuropathologic examination shows marked neuronal loss and gliosis predominantly in thalamic nuclei and inferior olives, while deposition of abnormal prion protein may be relatively sparse.",[600072],,,,,Fatal familial insomnia,TRUE,FALSE,Active +GARD:6430,Legacy,GARD,,,,,,,,,,,,Nonalcoholic steatohepatitis,FALSE,FALSE,Active +GARD:6431,Legacy,GARD,,,,,,,,,,,,Fazio-Londe syndrome,TRUE,FALSE,Retired +GARD:6435,Active,Orphanet,ORPHA:1912,Disorder,[Malformation syndrome],Fetal hydantoin syndrome,"[Fetal dihydantoin syndrome, Phenytoin embryofetopathy]","A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.",,,,,,Fetal hydantoin syndrome,TRUE,FALSE,Active +GARD:6439,Legacy,GARD,,,,,,,,,,,,Fibromatosis,FALSE,FALSE,Active +GARD:6444,Active,Orphanet,ORPHA:249,Disorder,[Malformation syndrome],Fibrous dysplasia of bone,,"A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits.",,,,,,Fibrous dysplasia,TRUE,FALSE,Active +GARD:6445,Active,Orphanet,ORPHA:337,Disorder,[Disease],Fibrodysplasia ossificans progressiva,"[FOP, Myositis ossificans progressiva, Stone man syndrome]",Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.,[135100],,,,,Fibrodysplasia ossificans progressiva,TRUE,FALSE,Active +GARD:6447,Active,Orphanet,ORPHA:468726,Disorder,[Disease],Severe primary trimethylaminuria,[TMAU],"A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.",[602079],,,,,Trimethylaminuria,TRUE,FALSE,Active +GARD:645,Active,Orphanet,ORPHA:100031,Subtype of disorder,[Clinical subtype],Hypoplastic amelogenesis imperfecta,[Amelogenesis imperfecta type 1],,"[616221, 617297, 616270, 301201, 104500, 104530, 204650]",,,,,Amelogenesis imperfecta local hypoplastic,TRUE,FALSE,Active +GARD:6450,Active,Orphanet,ORPHA:79292,Subtype of disorder,[Clinical subtype],Fish-eye disease,"[FED, Partial LCAT deficiency]","Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.",[136120],,,,,Fish-eye disease,TRUE,FALSE,Active +GARD:6452,Legacy,GARD,,,,,,,,,,,,Fitz-Hugh-Curtis syndrome,TRUE,FALSE,Active +GARD:6453,Legacy,GARD,,,,,,,,,,,,Flavimonas oryzihabitans infection,TRUE,FALSE,Active +GARD:6454,Legacy,GARD,,,,,,,,,,,,Necrotizing fasciitis,TRUE,FALSE,Active +GARD:6455,Active,Orphanet,ORPHA:2044,Disorder,[Malformation syndrome],Floating-Harbor syndrome,,"A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.",[136140],,,,,Floating-Harbor syndrome,TRUE,FALSE,Active +GARD:6457,Active,Orphanet,ORPHA:2092,Disorder,[Malformation syndrome],Focal dermal hypoplasia,"[Goltz syndrome, Goltz-Gorlin syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism.",[305600],,,,,Focal dermal hypoplasia,TRUE,FALSE,Active +GARD:6458,Legacy,GARD,,,,,,,,,,,,Focal task-specific dystonia,TRUE,FALSE,Active +GARD:646,Active,Orphanet,ORPHA:1031,Disorder,[Malformation syndrome],Enamel-renal syndrome,[Amelogenesis imperfecta-nephrocalcinosis syndrome],"A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.",[204690],,,,,Amelogenesis imperfecta nephrocalcinosis,TRUE,FALSE,Active +GARD:6460,Legacy,GARD,,,,,,,,,,,,Diffuse idiopathic skeletal hyperostosis,FALSE,FALSE,Active +GARD:6462,Legacy,GARD,,,,,,,,,,,,Fox-Fordyce disease,TRUE,FALSE,Active +GARD:6463,Legacy,GARD,,,,,,,,,,,,Hypothalamic obesity,TRUE,FALSE,Active +GARD:6464,Active,Orphanet,ORPHA:908,Disorder,[Malformation syndrome],Fragile X syndrome,"[FRAXA syndrome, FXS, FraX syndrome, Martin-Bell syndrome]","A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.","[311360, 300624]",,,,,Fragile X syndrome,TRUE,FALSE,Active +GARD:6465,Active,Orphanet,ORPHA:2052,Disorder,[Malformation syndrome],Fraser syndrome,[Cryptophthalmos-syndactyly syndrome],"A rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies.","[617666, 219000, 617667]",,,,,Fraser syndrome,TRUE,FALSE,Active +GARD:6466,Active,Orphanet,ORPHA:2053,Disorder,[Malformation syndrome],Freeman-Sheldon syndrome,"[Craniocarpotarsal dysplasia, Craniocarpotarsal dystrophy, Distal arthrogryposis type 2A, Freeman-Burian syndrome, Whistling face syndrome]","A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis.","[193700, 618436, 616266, 277720]",,,,,Freeman-Sheldon syndrome,TRUE,FALSE,Active +GARD:6467,Legacy,GARD,,,,,,,,,,,,Frey's syndrome,TRUE,FALSE,Active +GARD:6468,Active,Orphanet,ORPHA:95,Disorder,[Disease],Friedreich ataxia,"[FA, FRDA]","Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.","[601992, 229300]",,,,,Friedreich ataxia,TRUE,FALSE,Active +GARD:647,Active,Orphanet,ORPHA:1028,Disorder,[Malformation syndrome],Amelo-onycho-hypohidrotic syndrome,"[Ameloonychohypohidrotic ectodermal dysplasia, Ameloonychohypohidrotic syndrome]","A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungueal hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrymal punctae may be occasionally absent. There have been no further descriptions in the literature since 1975.",[104570],,,,,Ameloonychohypohidrotic syndrome,TRUE,FALSE,Active +GARD:6471,Active,Orphanet,ORPHA:2056,Disorder,[Disease],Essential fructosuria,"[Fructokinase deficiency, Ketohexokinase deficiency]","Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.",[229800],,,,,Essential fructosuria,FALSE,FALSE,Active +GARD:6473,Active,Orphanet,ORPHA:349,Disorder,[Disease],Fucosidosis,[Alpha-L-fucosidase deficiency],"Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.",[230000],,,,,Fucosidosis,TRUE,FALSE,Active +GARD:6474,Legacy,GARD,,,,,,,,,,,,Fucosidosis type 1,TRUE,FALSE,Retired +GARD:6475,Active,Orphanet,ORPHA:272,Disorder,[Malformation syndrome],"Congenital muscular dystrophy, Fukuyama type","[FCMD, FKTN-related congenital muscular dystrophy, Fukuyama congenital muscular dystrophy]","Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.",[253800],,,,,Fukuyama type muscular dystrophy,TRUE,FALSE,Active +GARD:6476,Active,Orphanet,ORPHA:24,Disorder,[Disease],Fumaric aciduria,[Fumarase deficiency],"Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.",[606812],,,,,Fumarase deficiency,TRUE,FALSE,Active +GARD:6479,Active,Orphanet,ORPHA:79255,Subtype of disorder,[Clinical subtype],GM1 gangliosidosis type 1,"[Infantile GM1 gangliosidosis, Norman-Landing disease]",GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.,[230500],,,,,GM1 gangliosidosis type 1,TRUE,FALSE,Active +GARD:6481,Active,Orphanet,ORPHA:324636,Disorder,[Disease],Autoerythrocyte sensitization syndrome,"[GDS, Gardner-Diamond syndrome, Painful bruising syndrome, Psychogenic purpura]","A rare autoimmune disease with skin involvement characterized by recurrent episodes with isolated or multiple painful edematous inflammatory skin lesions progressing to ecchymoses within 24 hours, due to autosensitization to a stromal component of the patient's own erythrocytes. The development of the lesions is usually preceded by emotional or physical stress, followed by a prodromal stage with fatigue or malaise. Lower limbs and trunk are the most frequently involved sites. Accompanying features may include fever, arthralgia, myalgia, headache, gastrointestinal problems, or hematuria and epistaxis, among others. The disease occurs predominantly in women.",,,,,,Gardner-Diamond syndrome,TRUE,FALSE,Active +GARD:6482,Active,Orphanet,ORPHA:79665,Subtype of disorder,[Clinical subtype],Gardner syndrome,,Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.,[175100],,,,,Gardner syndrome,TRUE,FALSE,Active +GARD:6484,Legacy,GARD,,,,,,,,,,,,Gas bloat syndrome,TRUE,FALSE,Active +GARD:6485,Active,Orphanet,ORPHA:52417,Disorder,[Disease],MALT lymphoma,"[Extranodal marginal zone B-cell lymphoma, MALToma, Mucosa-associated lymphatic tissue lymphoma, Mucosa-associated lymphoid tissue lymphoma]","MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.",[137245],,,,,Gastric lymphoma,TRUE,FALSE,Active +GARD:6491,Legacy,GARD,,,,,,,,,,,,Generalized torsion dystonia,TRUE,FALSE,Retired +GARD:6493,Legacy,GARD,,,,,,,,,,,,Geographic tongue,FALSE,FALSE,Active +GARD:6497,Active,Orphanet,ORPHA:63275,Disorder,[Disease],Pemphigoid gestationis,[Gestational pemphigoid],"A rare autoimmune bullous skin disease characterized by pruritus with or without polymorphic skin eruption, affecting pregnant women typically during the second and third trimester.",,,,,,Pemphigoid gestationis,TRUE,FALSE,Active +GARD:6498,Active,Orphanet,ORPHA:59305,Group of disorders,[Clinical group],Gestational trophoblastic neoplasm,[GTN],"A rare, malignant group of gestational trophoblastic diseases always following pregnancy, most often molar pregnancy (hydatidiform mole). Four histological forms are described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor (PSTT) and epithelioid trophoblastic tumor (ETT).",,,,,,Gestational trophoblastic tumor,TRUE,FALSE,Active +GARD:6499,Legacy,GARD,,,,,,,,,,,,Gianotti Crosti syndrome,TRUE,FALSE,Active +GARD:65,Active,Orphanet,ORPHA:2065,Disorder,[Malformation syndrome],Galloway-Mowat syndrome,"[Galloway syndrome, Microcephaly-hiatus hernia-nephrotic syndrome, Nephrosis-neuronal dysmigration syndrome]","A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.","[618348, 301006, 618349, 617731, 251300, 617729, 617730, 618347]",,,,,Galloway-Mowat syndrome,TRUE,FALSE,Active +GARD:6500,Active,Orphanet,ORPHA:643,Disorder,[Disease],Giant axonal neuropathy,[GAN],"Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.",[256850],,,,,Giant axonal neuropathy,TRUE,FALSE,Active +GARD:6502,Legacy,GARD,,,,,,,,,,,,Giant cell myocarditis,TRUE,FALSE,Active +GARD:6506,Active,Orphanet,ORPHA:99725,Disorder,[Disease],Pituitary gigantism,"[Hypophyseal gigantism, Infantile and juvenile forms of acromegaly]","A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet.",[102200],,,,,Gigantism,TRUE,FALSE,Active +GARD:6507,Legacy,GARD,,,,,,,,,,,,Gilbert syndrome,FALSE,FALSE,Active +GARD:6509,Active,Orphanet+OMIM,OMIM:135300,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 1","[fibromatosis, gingival, hereditary, ggf1, Gingf]","Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva (summary by {7:Hart et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Gingival Fibromatosis\n\nOther loci for gingival fibromatosis have been mapped to chromosome 5q (GINGF2; {605544}), chromosome 2p23.3-p22.3 (GINGF3; {609955}), and chromosome 11p15 (GINGF4; {611010}). GINGF5 ({617626}) is caused by mutation in the REST gene ({600571}) on chromosome 4q12. There is some evidence for a locus on chromosome 2p16-p13 (see MAPPING).",[135300],[2024],[Hereditary gingival fibromatosis],[16582],,"Gingival fibromatosis, 1",TRUE,FALSE,Active +GARD:6513,Active,Orphanet,ORPHA:182067,Group of disorders,[Clinical group],Glial tumor,[Glioma],,"[613031, 137800, 613028, 613032, 613029, 607248, 613033, 613030]",,,,,Glioma,TRUE,FALSE,Active +GARD:6514,Active,Orphanet,ORPHA:251582,Disorder,[Disease],Gliomatosis cerebri,,"A rare glial tumor characterized by extensive infiltration of the brain, often extending to infratentorial structures and even the spinal cord. The tumor corresponds to WHO grade III and is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some tumors develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure, and a variety of neurological deficits. Prognosis is generally poor.",,,,,,Gliomatosis cerebri,TRUE,FALSE,Active +GARD:6516,Legacy,GARD,,,,,,,,,,,,Glomerulonephritis,TRUE,FALSE,Active +GARD:6517,Legacy,GARD,,,,,,,,,,,,Focal segmental glomerulosclerosis,TRUE,FALSE,Active +GARD:6518,Legacy,GARD,,,,,,,,,,,,Glossodynia,TRUE,FALSE,Active +GARD:6519,Active,Orphanet,ORPHA:221098,Disorder,[Disease],Glossopharyngeal neuralgia,,"A rare cranial neuralgia characterized by paroxysmal, usually unilateral stabbing pain within the sensory distributions of the auricular and pharyngeal branches of the glossopharyngeal and sometimes the vagus nerve (i. e. the posterior part of the tongue, the tonsillar fossa, oropharynx, larynx, angle of the mandible, and/or ear). The attacks last seconds to minutes with intervals between the paroxysms ranging from a few minutes to a few hours, and appear in clusters lasting weeks to months, again with irregular intervals in between. Pain attacks are usually triggered by a specific stimulus but may also occur spontaneously. The condition can sometimes be associated with bradycardia, syncope, seizures, and even asystole, and is then termed vagoglossopharyngeal neuralgia.",,,,,,Glossopharyngeal neuralgia,TRUE,FALSE,Active +GARD:652,Legacy,GARD,,,,,,,,,,,,Amebiasis,TRUE,FALSE,Active +GARD:6520,Active,Orphanet,ORPHA:466026,Disorder,[Disease],Class I glucose-6-phosphate dehydrogenase deficiency,"[Class I G6PD deficiency, Severe hemolytic anemia due to G6PD deficiency]","A rare constitutional hemolytic anemia due to an enzyme disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically <10% residual enzyme activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing neonatal jaundice (potentially leading to kernicterus), gallstones, and reticulocytosis and splenomegaly. They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism, which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans, is more common in infants and young children.",[300908],,,,,Glucose-6-phosphate dehydrogenase deficiency,TRUE,FALSE,Active +GARD:6521,Active,Orphanet,ORPHA:35710,Disorder,[Disease],Glucose-galactose malabsorption,[SGLT1 deficiency],"Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.",[606824],,,,,Glucose-galactose malabsorption,TRUE,FALSE,Active +GARD:6522,Active,Orphanet,ORPHA:25,Disorder,[Disease],Glutaryl-CoA dehydrogenase deficiency,"[GA1, GCDHD, Glutaric acidemia type 1, Glutaric aciduria type 1, Glutaryl-coenzyme A dehydrogenase deficiency]",Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.,[231670],,,,,Glutaric acidemia type I,TRUE,FALSE,Active +GARD:6523,Active,Orphanet,ORPHA:26791,Disorder,[Disease],Multiple acyl-CoA dehydrogenase deficiency,"[Glutaric acidemia type 2, Glutaric aciduria type 2, MAD deficiency, MADD]","Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.",[231680],,,,,Glutaric acidemia type II,TRUE,FALSE,Active +GARD:6528,Active,Orphanet,ORPHA:368,Disorder,[Disease],Glycogen storage disease due to muscle glycogen phosphorylase deficiency,"[GSD due to muscle glycogen phosphorylase deficiency, GSD type 5, GSD type V, Glycogen storage disease type 5, Glycogen storage disease type V, Glycogenosis due to muscle glycogen phosphorylase deficiency, Glycogenosis type 5, Glycogenosis type V, McArdle disease, Myophosphorylase deficiency]","Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.",[232600],,,,,Glycogen storage disease type 5,TRUE,FALSE,Active +GARD:6529,Active,Orphanet,ORPHA:369,Disorder,[Disease],Glycogen storage disease due to liver glycogen phosphorylase deficiency,"[GSD due to liver glycogen phosphorylase deficiency, GSD type 6, GSD type VI, Glycogen storage disease type 6, Glycogen storage disease type VI, Glycogenosis due to liver glycogen phosphorylase deficiency, Glycogenosis type 6, Glycogenosis type VI, Hepatic glycogen phosphorylase deficiency, Hepatic phosphorylase deficiency, Hers disease, Liver glycogen phosphorylase deficiency]","Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.",[232700],,,,,Glycogen storage disease type 6,TRUE,FALSE,Active +GARD:6538,Legacy,GARD,,,,,,,,,,,,Glycogen storage disease 8,TRUE,FALSE,Active +GARD:654,Active,Orphanet,ORPHA:1035,Disorder,[Biological anomaly],Beta-mercaptolactate cysteine disulfiduria,"[3-mercaptopyruvate sulfurtransferase deficiency, Ampola syndrome, MCDU]","An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.",[249650],,,,,Ampola syndrome,TRUE,FALSE,Active +GARD:6540,Legacy,GARD,,,,,,,,,,,,Goldenhar disease,TRUE,FALSE,Active +GARD:6542,Active,Orphanet,ORPHA:73,Disorder,[Malformation syndrome],Gorham-Stout disease,"[Gorham disease, Gorham syndrome, Idiopathic massive osteolysis, Progressive massive osteolysis, Vanishing bone disease]",Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.,[123880],,,,,Gorham's disease,TRUE,FALSE,Active +GARD:6543,Active,Orphanet,ORPHA:2500,Disorder,[Malformation syndrome],Acrogeria,"[Acrogeria, Gottron type, Acrometageria, Gottron syndrome]","A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.",[201200],,,,,"Acrogeria, Gottron type",TRUE,FALSE,Active +GARD:6544,Active,Orphanet,ORPHA:99920,Subtype of disorder,[Clinical subtype],Acute graft versus host disease,,,,,,,,Acute graft versus host disease,TRUE,FALSE,Active +GARD:6545,Legacy,GARD,,,,,,,,,,,,Granulocytopenia,TRUE,FALSE,Active +GARD:6546,Legacy,GARD,,,,,,,,,,,,Granuloma annulare,TRUE,FALSE,Active +GARD:6547,Legacy,GARD,,,,,,,,,,,,Granulomatous hypophysitis,TRUE,FALSE,Active +GARD:6548,Legacy,GARD,,,,,,,,,,,,Granulomatous rosacea,TRUE,FALSE,Active +GARD:6549,Legacy,GARD,,,,,,,,,,,,Graves disease,FALSE,FALSE,Active +GARD:6550,Active,Orphanet,ORPHA:380,Disorder,[Malformation syndrome],Greig cephalopolysyndactyly syndrome,[GCPS],"A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome.",[175700],,,,,Greig cephalopolysyndactyly syndrome,TRUE,FALSE,Active +GARD:6551,Legacy,GARD,,,,,,,,,,,,Grover's disease,FALSE,FALSE,Active +GARD:6552,Legacy,GARD,,,,,,,,,,,,Growth hormone deficiency,TRUE,FALSE,Active +GARD:6554,Active,Orphanet,ORPHA:2103,Group of disorders,[Clinical group],Guillain-Barré syndrome,"[GBS, Guillain-Barré-Strohl syndrome]","A clinically heterogeneous spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.",,,,,,Guillain-Barre syndrome,TRUE,FALSE,Active +GARD:6556,Active,Orphanet,ORPHA:414,Disorder,[Disease],Gyrate atrophy of choroid and retina,"[HOGA, Hyperornithinemia, Hyperornithinemia-gyrate atrophy of choroid and retina syndrome, Ornithine aminotransferase deficiency]","Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.",[258870],,,,,Gyrate atrophy of choroid and retina,TRUE,FALSE,Active +GARD:6557,Legacy,GARD,,,,,,,,,,,,Hemangioendothelioma,TRUE,FALSE,Active +GARD:6558,Active,Orphanet,ORPHA:330,Disorder,[Disease],Congenital factor XII deficiency,[Congenital Hageman factor deficiency],"A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.",[234000],,,,,Factor XII deficiency,TRUE,FALSE,Active +GARD:6559,Active,Orphanet,ORPHA:2841,Disorder,[Disease],Familial benign chronic pemphigus,"[Benign chronic familial pemphigus of Hailey-Hailey, Hailey-Hailey disease]","Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).",[169600],,,,,Hailey-Hailey disease,TRUE,FALSE,Active +GARD:656,Legacy,GARD,,,,,,,,,,,,Familial transthyretin amyloidosis,TRUE,FALSE,Active +GARD:6560,Active,Orphanet,ORPHA:58017,Disorder,[Disease],Classic hairy cell leukemia,"[HCL-C, Leukemic reticuloendotheliosis]","A rare, slowly progressive, chronic leukemia characterized by presence of abnormal B-lymphocytes (medium sized with abundant irregular pale cytoplasm, hair-like cytoplasmic projections/ruffled cytoplasmic border, a round or bean-shaped nucleus and absent nucleoli) in the blood or bone marrow, spleen and peripheral blood pancytopenia, notable monocytopenia, and marked susceptibility to infection. The characteristic immunophenotype is CD11c+, CD25+, CD103+ and CD123+ with a BRAF mutation in most cases.",,,,,,Hairy cell leukemia,TRUE,FALSE,Active +GARD:6561,Legacy,GARD,,,,,,,,,,,,Black hairy tongue,FALSE,FALSE,Active +GARD:6562,Legacy,GARD,,,,,,,,,,,,Hajdu-Cheney syndrome,TRUE,FALSE,Retired +GARD:6564,Active,Orphanet,ORPHA:157850,Disorder,[Disease],Pantothenate kinase-associated neurodegeneration,"[Hallervorden-Spatz syndrome, NBIA1, Neurodegeneration with brain iron accumulation type 1, PKAN]","Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.",[234200],,,,,Pantothenate kinase-associated neurodegeneration,TRUE,FALSE,Active +GARD:6567,Legacy,GARD,,,,,,,,,,,,Hand-Schuller-Christian disease,TRUE,FALSE,Retired +GARD:6568,Active,Orphanet,ORPHA:457,Disorder,[Disease],Harlequin ichthyosis,"[HI, Ichthyosis congenita, Harlequin type, Ichthyosis fetalis, Harlequin type]","Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.",[242500],,,,,Harlequin ichthyosis,TRUE,FALSE,Active +GARD:6569,Active,Orphanet,ORPHA:2116,Disorder,[Disease],Hartnup disease,"[Aminoaciduria, Hartnup type, Hartnup disorder]","A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).",[234500],,,,,Hartnup disease,TRUE,FALSE,Active +GARD:657,Legacy,GARD,,,,,,,,,,,,Amyloidosis of gingiva and conjunctiva with intellectual disability,TRUE,FALSE,Active +GARD:6570,Legacy,GARD,,,,,,,,,,,,Hashimoto's syndrome,FALSE,FALSE,Active +GARD:6571,Active,Orphanet,ORPHA:1071,Disorder,[Malformation syndrome],Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,"[AEC syndrome, Hay-Wells syndrome]","An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.",[106260],,,,,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,TRUE,FALSE,Active +GARD:6577,Legacy,GARD,,,,,,,,,,,,Heavy metal poisoning,TRUE,FALSE,Active +GARD:6578,Legacy,GARD,,,,,,,,,,,,Helminthiasis,TRUE,FALSE,Active +GARD:6582,Legacy,GARD,,,,,,,,,,,,Hemifacial microsomia,TRUE,FALSE,Active +GARD:6583,Legacy,GARD,,,,,,,,,,,,Hemiplegia,FALSE,FALSE,Draft +GARD:6584,Active,Orphanet,ORPHA:251365,Disorder,[Disease],Sickle cell-hemoglobin C disease syndrome,[HbSC disease],"A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.",,,,,,Hemoglobin SC disease,TRUE,FALSE,Active +GARD:6588,Active,Orphanet,ORPHA:90038,Subtype of disorder,[Clinical subtype],Shiga toxin-associated hemolytic uremic syndrome,"[D+ HUS, EHEC-HUS, Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli, Hemolytic uremic syndrome with diarrhea, STEC-HUS, Shiga-like toxin-associated HUS, Stx-HUS, Typical HUS, Typical hemolytic uremic syndrome]","A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.",[235400],,,,,Hemolytic uremic syndrome,TRUE,FALSE,Active +GARD:6589,Active,Orphanet,ORPHA:540,Disorder,[Disease],Familial hemophagocytic lymphohistiocytosis,[Familial HLH],Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.,"[603553, 618998, 613101, 608898, 267700, 603552]",,,,,Familial hemophagocytic lymphohistiocytosis,TRUE,FALSE,Active +GARD:6590,Legacy,GARD,,,,,,,,,,,,Hemophagocytic reticulosis,TRUE,FALSE,Active +GARD:6591,Active,Orphanet,ORPHA:98878,Disorder,[Disease],Hemophilia A,"[Congenital F8 deficiency, Congenital FVIII deficiency, Congenital Factor VIII deficiency]",A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.,[306700],,,,,Hemophilia A,TRUE,FALSE,Active +GARD:6592,Legacy,GARD,,,,,,,,,,,,Hemophilic arthropathy,TRUE,FALSE,Active +GARD:6593,Legacy,GARD,,,,,,,,,,,,Hemorrhagic fever,TRUE,FALSE,Retired +GARD:6594,Active,Orphanet,ORPHA:3318,Disorder,[Disease],Essential thrombocythemia,"[ET, Essential thrombocytosis]","Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.","[614521, 187950, 601977]",,,,,Essential thrombocythemia,TRUE,FALSE,Active +GARD:6595,Legacy,GARD,,,,,,,,,,,,Hemosiderosis,TRUE,FALSE,Active +GARD:6597,Legacy,GARD,,,,,,,,,,,,Hepadnavirus infection,TRUE,FALSE,Retired +GARD:66,Active,Orphanet,ORPHA:2095,Disorder,[Malformation syndrome],Gorlin-Chaudhry-Moss syndrome,"[Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome, Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome, Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome, GCM syndrome]","Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.",[612289],,,,,Gorlin Chaudhry Moss syndrome,TRUE,FALSE,Active +GARD:660,Legacy,GARD,,,,,,,,,,,,Amyoplasia mandibulofacial dysostosis,TRUE,FALSE,Retired +GARD:6608,Active,Orphanet,ORPHA:210159,Disorder,[Disease],Adult hepatocellular carcinoma,[Adult HCC],"A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.",[114550],,,,,Primary liver cancer,TRUE,FALSE,Active +GARD:6610,Legacy,GARD,,,,,,,,,,,,Hepatorenal syndrome,TRUE,FALSE,Active +GARD:6611,Active,Orphanet,ORPHA:444116,Group of disorders,[Category],Hereditary amyloidosis,,,,,,,,Hereditary amyloidosis,TRUE,FALSE,Active +GARD:6614,Legacy,GARD,,,,,,,,,,,,Hereditary ataxia,TRUE,FALSE,Active +GARD:6616,Legacy,GARD,,,,,,,,,,,,Myopathic carnitine deficiency,TRUE,FALSE,Active +GARD:6618,Active,Orphanet,ORPHA:228357,Subtype of disorder,[Etiological subtype],CLN9 disease,,,[609055],,,,,Neuronal ceroid lipofuscinosis 9,TRUE,FALSE,Active +GARD:6619,Active,Orphanet,ORPHA:79273,Disorder,[Disease],Hereditary coproporphyria,,"Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.",[121300],,,,,Hereditary coproporphyria,TRUE,FALSE,Active +GARD:6621,Active,Orphanet,ORPHA:288,Disorder,[Disease],Hereditary elliptocytosis,[HE],Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.,"[611804, 617948, 130600, 235370]",,,,,Hereditary elliptocytosis,TRUE,FALSE,Active +GARD:6622,Active,Orphanet,ORPHA:469,Disorder,[Disease],Hereditary fructose intolerance,"[Hereditary fructose-1-phosphate aldolase deficiency, Hereditary fructosemia]","Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.",[229600],,,,,Hereditary fructose intolerance,TRUE,FALSE,Active +GARD:6626,Active,Orphanet,ORPHA:774,Disorder,[Disease],Hereditary hemorrhagic telangiectasia,"[HHT, Rendu-Osler disease, Rendu-Osler-Weber disease]",An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations.,"[601101, 187300, 600376, 610655, 615506]",,,,,Hereditary hemorrhagic telangiectasia,TRUE,FALSE,Active +GARD:6627,Legacy,GARD,,,,,,,,,,,,Hereditary hyperuricemia,TRUE,FALSE,Retired +GARD:6632,Active,Orphanet,ORPHA:676,Disorder,[Disease],Hereditary chronic pancreatitis,,"A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas.",[167800],,,,,Hereditary pancreatitis,TRUE,FALSE,Active +GARD:6633,Legacy,GARD,,,,,,,,,,,,Hereditary paroxysmal cerebral ataxia,TRUE,FALSE,Retired +GARD:6634,Legacy,GARD,,,,,,,,,,,,Hereditary peripheral nervous disorder,TRUE,FALSE,Retired +GARD:6635,Active,Orphanet,ORPHA:36386,Disorder,[Disease],Hereditary sensory and autonomic neuropathy type 1,"[HSAN1, Hereditary sensory and autonomic neuropathy type I]","Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.","[615632, 162400, 613708, 613640]",,,,,Hereditary sensory neuropathy type 1,TRUE,FALSE,Active +GARD:6637,Active,Orphanet,ORPHA:685,Group of disorders,[Clinical group],Hereditary spastic paraplegia,"[Familial spastic paraplegia, HSP, Hereditary spastic paraparesis, SPG, Strümpell-Lorrain disease]","A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features.",,,,,,Hereditary spastic paraplegia,TRUE,FALSE,Active +GARD:6639,Active,Orphanet,ORPHA:822,Disorder,[Disease],Hereditary spherocytosis,[Minkowski-Chauffard disease],"Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.","[612653, 616649, 612690, 182900, 270970]",,,,,Hereditary spherocytosis,TRUE,FALSE,Active +GARD:664,Active,Orphanet,ORPHA:142,Disorder,[Disease],Anaplastic thyroid carcinoma,,A disorder that represents the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.,,,,,,Anaplastic thyroid cancer,TRUE,FALSE,Active +GARD:6640,Legacy,GARD,,,,,,,,,,,,Hereditary type 1 neuropathy,TRUE,FALSE,Retired +GARD:6641,Legacy,GARD,,,,,,,,,,,,Hereditary type 2 neuropathy,TRUE,FALSE,Retired +GARD:6643,Active,Orphanet,ORPHA:79430,Disorder,[Disease],Hermansky-Pudlak syndrome,[HPS],"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.","[614072, 203300, 614171, 619172, 614073, 614076, 608233, 614077, 614074, 617050, 614075]",,,,,Hermansky-Pudlak syndrome,TRUE,FALSE,Active +GARD:6649,Active,Orphanet,ORPHA:1930,Disorder,[Disease],Herpes simplex virus encephalitis,"[HSE, HSV encephalitis, HSVE, Herpes simplex meningo-encephalitis, Herpes simplex neuroinvasion, Herpetic encephalitis]","A rare disorder caused by infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. This disorder often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.","[610551, 614849, 613002, 614850, 617900, 616532]",,,,,Herpes simplex encephalitis,TRUE,FALSE,Active +GARD:6654,Legacy,GARD,,,,,,,,,,,,Herpesvirus simiae B virus infection,TRUE,FALSE,Active +GARD:6657,Active,Orphanet,ORPHA:396,Disorder,[Disease],Chronic hiccup,,Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.,,,,,,Chronic hiccups,TRUE,FALSE,Active +GARD:6658,Legacy,GARD,,,,,,,,,,,,Hidradenitis suppurativa,FALSE,FALSE,Active +GARD:6659,Legacy,GARD,,,,,,,,,,,,Developmental dysplasia of hip,FALSE,FALSE,Active +GARD:6660,Active,Orphanet,ORPHA:388,Disorder,[Disease],Hirschsprung disease,"[Aganglionic megacolon, Colonic aganglionosis, Congenital intestinal aganglionosis, HSCR]",A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.,"[600156, 142623, 611644, 608462, 606875, 606874, 613711, 600155, 613712]",,,,,Hirschsprung disease,TRUE,FALSE,Active +GARD:6661,Active,Orphanet,ORPHA:2157,Disorder,[Disease],Histidinemia,"[HAL deficiency, HIS deficiency, Histidase deficiency, Histidine ammonia-lyase deficiency, Histidinuria, Hyperhistidinemia]","Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.",[235800],,,,,Histidinemia,TRUE,FALSE,Active +GARD:6665,Active,Orphanet,ORPHA:2162,Disorder,[Malformation syndrome],Holoprosencephaly,[HPE],"A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity.","[605934, 609637, 610828, 612530, 614226, 610829, 142945, 236100, 142946, 147250, 157170, 609408]",,,,,Holoprosencephaly,TRUE,FALSE,Active +GARD:6666,Active,Orphanet,ORPHA:392,Disorder,[Malformation syndrome],Holt-Oram syndrome,"[Atriodigital dysplasia type 1, HOS, Heart-hand syndrome type 1]",A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.,[142900],,,,,Holt-Oram syndrome,TRUE,FALSE,Active +GARD:6667,Active,Orphanet,ORPHA:394,Disorder,[Disease],Classic homocystinuria,"[Cystathionine beta-synthase deficiency, Homocystinuria due to cystathionine beta-synthase deficiency]","Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.",[236200],,,,,Homocystinuria due to CBS deficiency,TRUE,FALSE,Active +GARD:6668,Legacy,GARD,,,,,,,,,,,,Homologous wasting disease,TRUE,FALSE,Active +GARD:667,Legacy,GARD,,,,,,,,,,,,Sideroblastic anemia,FALSE,FALSE,Active +GARD:6670,Active,Orphanet,ORPHA:91413,Disorder,[Disease],Congenital Horner syndrome,[Congenital Claude-Bernard-Horner syndrome],"Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.",[143000],,,,,Horner's syndrome,TRUE,FALSE,Active +GARD:6675,Active,Orphanet,ORPHA:580,Disorder,[Disease],Mucopolysaccharidosis type 2,"[Hunter syndrome, Iduronate 2-sulfatase deficiency, MPS2, MPSII, Mucopolysaccharidosis type II]","A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.",[309900],,,,,Mucopolysaccharidosis type II,TRUE,FALSE,Active +GARD:6677,Active,Orphanet,ORPHA:399,Disorder,[Disease],Huntington disease,[Huntington chorea],"Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.",[143100],,,,,Huntington disease,TRUE,FALSE,Active +GARD:668,Active,Orphanet,ORPHA:2802,Disorder,[Disease],X-linked sideroblastic anemia and spinocerebellar ataxia,"[Pagon-Bird-Detter syndrome, X-linked sideroblastic anemia with ataxia, XLSA-A]","A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.",[301310],,,,,Anemia sideroblastic and spinocerebellar ataxia,TRUE,FALSE,Active +GARD:6681,Active,Orphanet,ORPHA:2177,Disorder,[Malformation syndrome],Hydranencephaly,,"A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical.",,,,,,Hydranencephaly,TRUE,FALSE,Active +GARD:6682,Active,Orphanet,ORPHA:2185,Disorder,[Malformation syndrome],Congenital hydrocephalus,,A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly.,"[236600, 615219]",,,,,Congenital hydrocephalus,TRUE,FALSE,Active +GARD:6683,Active,Orphanet,ORPHA:2189,Disorder,[Malformation syndrome],Hydrolethalus,,"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.","[614120, 236680]",,,,,Hydrolethalus syndrome,TRUE,FALSE,Active +GARD:6684,Legacy,GARD,,,,,,,,,,,,Hyper-reninism,TRUE,FALSE,Retired +GARD:669,Legacy,GARD,,,,,,,,,,,,Anencephaly and spina bifida X-linked,TRUE,FALSE,Active +GARD:6692,Legacy,GARD,,,,,,,,,,,,Hypercementosis,TRUE,FALSE,Active +GARD:67,Legacy,GARD,,,,,,,,,,,,"Gouty nephropathy, familial",TRUE,FALSE,Retired +GARD:670,Active,Orphanet,ORPHA:1054,Disorder,[Morphological anomaly],Aneurysm of sinus of Valsalva,,"A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.",,,,,,Aneurysm of sinus of Valsalva,TRUE,FALSE,Active +GARD:6702,Legacy,GARD,,,,,,,,,,,,Hyperlipoproteinemia type 2,FALSE,FALSE,Retired +GARD:6703,Active,Orphanet,ORPHA:412,Disorder,[Disease],Dysbetalipoproteinemia,"[Broad-beta disease, Familial dyslipidemia type 3, HLP type 3, Hyperlipidemia type 3, Hyperlipoproteinemia type 3, Remnant hyperlipoproteinemia]","A rare combined hyperlipidemia (HLP type 3) characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of progressive atherosclerosis and premature cardiovascular disease.",[617347],,,,,Hyperlipidemia type 3,TRUE,FALSE,Active +GARD:6704,Active,Orphanet,ORPHA:530849,Subtype of disorder,[Etiological subtype],Familial apolipoprotein A5 deficiency,"[Familial APOA5 deficiency, Familial apolipoprotein A-V deficiency]",,[144650],,,,,Hyperlipoproteinemia type 5,TRUE,FALSE,Active +GARD:671,Active,Orphanet,ORPHA:63442,Disorder,[Malformation syndrome],Angel-shaped phalango-epiphyseal dysplasia,[ASPED],"A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.",[105835],,,,,Angel shaped phalangoepiphyseal dysplasia,TRUE,FALSE,Active +GARD:6710,Active,Orphanet,ORPHA:79101,Disorder,[Disease],Hyperprolinemia type 2,[Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency],"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.",[239510],,,,,Hyperprolinemia type 2,TRUE,FALSE,Active +GARD:6717,Legacy,GARD,,,,,,,,,,,,Hypertrophic branchial myopathy,TRUE,FALSE,Active +GARD:672,Legacy,GARD,,,,,,,,,,,,Angiofollicular ganglionic hyperplasia,TRUE,FALSE,Retired +GARD:6722,Legacy,GARD,,,,,,,,,,,,Hypoadrenalism,TRUE,FALSE,Retired +GARD:6724,Active,Orphanet,ORPHA:429,Disorder,[Disease],Hypochondroplasia,,"A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.",[146000],,,,,Hypochondroplasia,TRUE,FALSE,Active +GARD:6725,Active,Orphanet,ORPHA:36412,Disorder,[Disease],Hypocomplementemic urticarial vasculitis,"[Anti-C1q vasculitis, Mac Duffie hypocomplementemic urticarial vasculitis, Mac Duffie syndrome, McDuffie hypocomplementemic urticarial vasculitis, McDuffie syndrome]","A rare immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C3, C4 and/or C1q), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation are common systemic manifestations.",,,,,,Hypocomplementemic urticarial vasculitis,TRUE,FALSE,Active +GARD:6729,Active,Orphanet,ORPHA:681,Disorder,[Disease],Hypokalemic periodic paralysis,[Westphall disease],"A rare genetic, muscle channelopathy characterized by recurrent episodic attacks of generalized muscle weakness associated with a decrease in blood potassium levels.","[613345, 170400]",,,,,Hypokalemic periodic paralysis,TRUE,FALSE,Active +GARD:673,Legacy,GARD,,,,,,,,,,,,Angiofollicular lymph hyperplasia,TRUE,FALSE,Retired +GARD:6730,Legacy,GARD,,,,,,,,,,,,Hypoketonemic hypoglycemia,TRUE,FALSE,Retired +GARD:6731,Legacy,GARD,,,,,,,,,,,,Hypomelanotic disorder,TRUE,FALSE,Active +GARD:6733,Legacy,GARD,,,,,,,,,,,,Hypoparathyroidism,TRUE,FALSE,Active +GARD:6734,Active,Orphanet,ORPHA:436,Disorder,[Disease],Hypophosphatasia,"[HPP, Phosphoethanolaminuria, Rathbun disease]","A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood.","[241500, 241510, 146300]",,,,,Hypophosphatasia,TRUE,FALSE,Active +GARD:6735,Active,Orphanet,ORPHA:437,Group of disorders,[Clinical group],Hypophosphatemic rickets,,"A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities.",,,,,,Hypophosphatemic rickets,TRUE,FALSE,Active +GARD:6737,Active,Orphanet+OMIM,OMIM:312000,Subtype of disorder,[Disease subtype],"Panhypopituitarism, x-linked","[Pituitary dwarfism iv, formerly]",,[312000],[90695],[Non-acquired panhypopituitarism],[15020],,Panhypopituitarism X-linked,TRUE,FALSE,Active +GARD:6738,Legacy,GARD,,,,,,,,,,,,Hypoplasia of the tibia with polydactyly,TRUE,FALSE,Active +GARD:6739,Active,Orphanet,ORPHA:2248,Disorder,[Morphological anomaly],Hypoplastic left heart syndrome,[HLHS],"A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.","[241550, 614435]",,,,,Hypoplastic left heart syndrome,TRUE,FALSE,Active +GARD:674,Legacy,GARD,,,,,,,,,,,,Angiokeratoma mental retardation coarse face,TRUE,FALSE,Retired +GARD:6740,Legacy,GARD,,,,,,,,,,,,Hyporeninemic hypoaldosteronism,TRUE,FALSE,Retired +GARD:6749,Active,Orphanet,ORPHA:576,Disorder,[Disease],Mucolipidosis type II,"[I-cell disease, Mucolipidosis type II alpha/beta, N-acetylglucosamine 1-phosphotransferase deficiency]","A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay.",[252500],,,,,I cell disease,TRUE,FALSE,Active +GARD:6752,Legacy,GARD,,,,,,,,,,,,Ichthyosis vulgaris,TRUE,FALSE,Active +GARD:6755,Legacy,GARD,,,,,,,,,,,,Idiopathic alveolar hypoventilation syndrome,TRUE,FALSE,Active +GARD:6757,Active,Orphanet,ORPHA:1676,Disorder,[Disease],Idiopathic pulmonary artery dilatation,,"Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.",,,,,,Idiopathic dilatation of the pulmonary artery,TRUE,FALSE,Active +GARD:6759,Legacy,GARD,,,,,,,,,,,,Idiopathic edema,FALSE,FALSE,Active +GARD:676,Active,Orphanet,ORPHA:1062,Disorder,[Disease],Hereditary neurocutaneous malformation,,"A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988.",[106070],,,,,Angioma hereditary neurocutaneous,TRUE,FALSE,Active +GARD:6760,Active,Orphanet,ORPHA:85193,Disorder,[Malformation syndrome],Idiopathic juvenile osteoporosis,"[IJO, Juvenile osteoporosis]","Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.","[259750, 615221]",,,,,Juvenile osteoporosis,TRUE,FALSE,Active +GARD:6763,Active,Orphanet,ORPHA:99931,Disorder,[Disease],Idiopathic pulmonary hemosiderosis,,"Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.","[178550, 235500]",,,,,Idiopathic pulmonary hemosiderosis,TRUE,FALSE,Active +GARD:6768,Legacy,GARD,,,,,,,,,,,,Immune thrombocytopenia,TRUE,FALSE,Active +GARD:6769,Legacy,GARD,,,,,,,,,,,,Imperforate anus,TRUE,FALSE,Active +GARD:6770,Legacy,GARD,,,,,,,,,,,,Inborn amino acid metabolism disorder,TRUE,FALSE,Active +GARD:6774,Legacy,GARD,,,,,,,,,,,,Inborn renal aminoaciduria,TRUE,FALSE,Active +GARD:6777,Legacy,GARD,,,,,,,,,,,,Inclusion conjunctivitis,TRUE,FALSE,Active +GARD:6778,Active,Orphanet,ORPHA:464,Disorder,[Malformation syndrome],Incontinentia pigmenti,"[Bloch-Siemens syndrome, Bloch-Sulzberger syndrome]","An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality.",[308300],,,,,Incontinentia pigmenti,TRUE,FALSE,Active +GARD:6779,Active,Orphanet,ORPHA:70590,Disorder,[Disease],Infantile apnea,"[Apnea in full-term infants, Apnea of infancy]","Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.",,,,,,Infantile apnea,TRUE,FALSE,Active +GARD:6781,Legacy,GARD,,,,,,,,,,,,Infectious arthritis,TRUE,FALSE,Active +GARD:6782,Legacy,GARD,,,,,,,,,,,,Infectious myocarditis,TRUE,FALSE,Active +GARD:6784,Legacy,GARD,,,,,,,,,,,,Inflammatory breast cancer,TRUE,FALSE,Active +GARD:6786,Legacy,GARD,,,,,,,,,,,,Intercellular cholesterol esterification disease,TRUE,FALSE,Retired +GARD:6787,Legacy,GARD,,,,,,,,,,,,Interstitial cystitis,FALSE,FALSE,Active +GARD:6789,Legacy,GARD,,,,,,,,,,,,Intestinal pseudo-obstruction,TRUE,FALSE,Active +GARD:679,Legacy,GARD,,,,,,,,,,,,"Angiomatosis, leptomeningeal capillary venous",TRUE,FALSE,Retired +GARD:6791,Active,Orphanet,ORPHA:263479,Disorder,[Disease],Fuchs heterochromic iridocyclitis,[FHI],"Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.",,,,,,Fuchs heterochromic iridocyclitis,TRUE,FALSE,Active +GARD:6793,Active,Orphanet,ORPHA:84142,Disorder,[Disease],Isaacs syndrome,"[Continuous muscle fiber activity syndrome, Isaacs-Mertens syndrome, Quantal squander syndrome]","Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.",,,,,,Isaacs' syndrome,TRUE,FALSE,Active +GARD:6795,Active,Orphanet,ORPHA:97548,Disorder,[Malformation syndrome],Right sided atrial isomerism,"[Isomerism of right atrial appendage, Ivemark syndrome, RAI]","A rare heterotaxia characterized by complex congenital heart malformations and abnormal lateralization of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor.",[208530],,,,,Ivemark syndrome,TRUE,FALSE,Active +GARD:6796,Active,Orphanet,ORPHA:1540,Disorder,[Malformation syndrome],Jackson-Weiss syndrome,"[Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome, JWS]","Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.",[123150],,,,,Jackson-Weiss syndrome,TRUE,FALSE,Active +GARD:6797,Active,Orphanet,ORPHA:79139,Disorder,[Disease],Japanese encephalitis,,Japanese encephalitis is an arboviral disease (i.e. a disease due to a virus transmitted by an arthropod).,,,,,,Japanese encephalitis,TRUE,FALSE,Active +GARD:6798,Active,Orphanet,ORPHA:2311,Disorder,[Malformation syndrome],Autosomal recessive spondylocostal dysostosis,[Jarcho-Levin syndrome],"A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.","[616566, 609813, 613686, 277300, 608681]",,,,,Spondylothoracic dysostosis,TRUE,FALSE,Active +GARD:6799,Legacy,GARD,,,,,,,,,,,,Jejunal atresia,TRUE,FALSE,Active +GARD:68,Active,Orphanet,ORPHA:989,Disorder,[Malformation syndrome],Hypoglossia-hypodactyly syndrome,"[Aglossia-adactylia syndrome, Hanhart syndrome, Jussieu syndrome]","A rare disease characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations.",[103300],,,,,Hanhart syndrome,TRUE,FALSE,Active +GARD:6800,Active,Orphanet,ORPHA:2314,Disorder,[Disease],Autosomal dominant hyper-IgE syndrome,"[AD-HIES, Autosomal dominant HIES, Autosomal dominant hyperimmunoglobulin E syndrome, Buckley syndrome, Hyperimmunoglobulin E syndrome type 1, Hyperimmunoglobulin E-recurrent infection syndrome, Job syndrome, STAT3 deficiency]","A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.",[147060],,,,,Autosomal dominant hyper IgE syndrome,TRUE,FALSE,Active +GARD:6801,Active,Orphanet,ORPHA:98757,Disorder,[Disease],Spinocerebellar ataxia type 3,"[Azorean disease of the nervous system, MJD, Machado disease, Machado-Joseph disease, Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia, SCA3]","Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.",[109150],,,,,Spinocerebellar ataxia 3,TRUE,FALSE,Active +GARD:6802,Active,Orphanet,ORPHA:475,Disorder,[Malformation syndrome],Joubert syndrome,"[CPD IV, Cerebelloparenchymal disorder IV, Classic Joubert syndrome, Joubert syndrome type A, Joubert-Boltshauser syndrome, Pure Joubert syndrome]","A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.","[614424, 615636, 213300, 616784, 614970, 616654, 612291, 614615, 617120, 610688, 617121, 614173, 614464, 617622, 616490, 617761, 616781, 618161, 619185]",,,,,Joubert syndrome,TRUE,FALSE,Active +GARD:6803,Legacy,GARD,,,,,,,,,,,,Jumping Frenchmen of Maine,TRUE,FALSE,Active +GARD:6805,Active,Orphanet,ORPHA:93672,Disorder,[Disease],Juvenile dermatomyositis,[Juvenile DM],"An early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder with vasculopathy, characterized by proximal and symmetrical muscle weakness, evocative skin lesions, and systemic manifestations. Vasculopathy occurs in the skin, muscle (mainly in the perifascicular area), and sometimes in the intestinal tissue.",,,,,,Juvenile dermatomyositis,TRUE,FALSE,Active +GARD:6806,Legacy,GARD,,,,,,,,,,,,Familial juvenile hyperuricaemic nephropathy,TRUE,FALSE,Retired +GARD:6807,Active,Orphanet,ORPHA:2176,Subtype of disorder,[Clinical subtype],Infantile systemic hyalinosis,,"Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.",[228600],,,,,Hyaline fibromatosis syndrome,TRUE,FALSE,Active +GARD:6808,Active,Orphanet,ORPHA:307,Disorder,[Disease],Juvenile myoclonic epilepsy,"[JME, Juvenile myoclonus epilepsy]","Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).","[604827, 617924, 611136, 607682, 613060, 614280, 254770, 607628, 608816, 611364]",,,,,Juvenile myoclonic epilepsy,TRUE,FALSE,Active +GARD:6810,Active,Orphanet,ORPHA:2322,Disorder,[Malformation syndrome],Kabuki syndrome,"[Kabuki make-up syndrome, Niikawa-Kuroki syndrome]","A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly V, spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad eyebrows, long palpebral fissures, eversion of the lower eyelid, large prominent, cupped ears, depressed nasal tip and short columella). Various additional features are frequently observed.","[147920, 300867]",,,,,Kabuki syndrome,TRUE,FALSE,Active +GARD:6811,Legacy,GARD,,,,,,,,,,,,Kallikrein hypertension,TRUE,FALSE,Active +GARD:6814,Active,Orphanet,ORPHA:33276,Disorder,[Disease],Kaposi sarcoma,,"A rare vascular tumor that is characterized by human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops with various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.",[148000],,,,,Kaposi sarcoma,TRUE,FALSE,Active +GARD:6815,Legacy,GARD,,,,,,,,,,,,Kartagener syndrome,TRUE,FALSE,Active +GARD:6816,Active,Orphanet,ORPHA:2331,Disorder,[Disease],Kawasaki disease,[Mucocutaneous lymph node syndrome],"A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated.",[611775],,,,,Kawasaki disease,TRUE,FALSE,Active +GARD:6817,Active,Orphanet,ORPHA:480,Disorder,[Disease],Kearns-Sayre syndrome,,"A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.",[530000],,,,,Kearns-Sayre syndrome,TRUE,FALSE,Active +GARD:6818,Active,Orphanet,ORPHA:481,Disorder,[Disease],Kennedy disease,"[SBMA, SMAX1, X-linked BSMA, X-linked bulbospinal amyotrophy, X-linked bulbospinal muscular atrophy, X-linked spinal and bulbar muscular atrophy]","Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.",[313200],,,,,Kennedy disease,TRUE,FALSE,Active +GARD:6819,Legacy,GARD,,,,,,,,,,,,Herpetic keratitis,FALSE,FALSE,Retired +GARD:6821,Active,Orphanet,ORPHA:587,Disorder,[Disease],Muir-Torre syndrome,"[Multiple keratoacanthoma, Muir-Torre type]","A form of hereditary nonpolyposis colon cancer characterized by the development of cutaneous sebaceous neoplasia and at least one visceral malignancy, most frequently gastrointestinal carcinoma. The malignancies are usually multiple, occur at an early age, but tend to be of low-grade and have a relatively low incidence of metastases. Sebaceous tumors are usually multiple, with sebaceous adenomas being the commonest. Multiple keratoacanthomas, usually located on the face or the trunk, have been reported as a feature. Cutaneous tumors may precede or follow the first presentation of internal malignancy, which usually involves the gastrointestinal tract, the breast or the genitourinary tract.",[158320],,,,,Muir-Torre syndrome,TRUE,FALSE,Active +GARD:6824,Legacy,GARD,,,,,,,,,,,,Keratoconus,TRUE,FALSE,Active +GARD:6825,Legacy,GARD,,,,,,,,,,,,Keratomalacia,TRUE,FALSE,Active +GARD:6829,Active,Orphanet,ORPHA:2340,Disorder,[Disease],Keratosis follicularis spinulosa decalvans,,"Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.","[308800, 612843, 604093]",,,,,Keratosis follicularis spinulosa decalvans,TRUE,FALSE,Active +GARD:683,Active,Orphanet,ORPHA:74,Disorder,[Disease],Angiostrongyliasis,,"A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.",,,,,,Angiostrongyliasis,TRUE,FALSE,Active +GARD:6830,Active,Orphanet,ORPHA:415286,Group of disorders,[Clinical group],Bilirubin encephalopathy,[Kernicterus],,,,,,,Kernicterus,TRUE,FALSE,Active +GARD:6834,Active,Orphanet,ORPHA:50918,Disorder,[Disease],Kikuchi-Fujimoto disease,"[Histiocytic necrotizing lymphadenitis, Kikuchi disease]","Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.",,,,,,Kikuchi disease,TRUE,FALSE,Active +GARD:6835,Active,Orphanet,ORPHA:482,Disorder,[Disease],Kimura disease,[Eosinophilic lymphogranuloma],"Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.",,,,,,Kimura disease,TRUE,FALSE,Active +GARD:6838,Legacy,GARD,,,,,,,,,,,,Segmentation syndrome 1,TRUE,FALSE,Active +GARD:6840,Active,Orphanet,ORPHA:157823,Disorder,[Clinical syndrome],Klüver-Bucy syndrome,,"A rare neurologic disease characterized by visual agnosia, hyperorality (strong tendency to examine objects orally), hypermetamorphosis (described as the irresistible impulse to notice and react to everything within sight), hypersexuality, changes in dietary habits and hyperphagia, placidity, and amnesia, due to bilateral lesions of the temporal lobe including the hippocampus and amygdala.",,,,,,Kluver Bucy syndrome,TRUE,FALSE,Active +GARD:6841,Active,Orphanet,ORPHA:485,Disorder,[Disease],Kniest dysplasia,,"Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).",[156550],,,,,Kniest dysplasia,TRUE,FALSE,Active +GARD:6842,Active,Orphanet,ORPHA:563991,Disorder,[Disease],Osteochondrosis of the tarsal bone,"[Aseptic necrosis of the tarsal bone, Avascular necrosis of the tarsal bone, Kohler disease]","A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.",,,,,,Kohler disease,TRUE,FALSE,Active +GARD:6843,Legacy,GARD,,,,,,,,,,,,Wernicke-Korsakoff syndrome,TRUE,FALSE,Active +GARD:6844,Active,Orphanet,ORPHA:487,Disorder,[Disease],Krabbe disease,"[GALC deficiency, Galactocerebrosidase deficiency, Galactosylceramidase deficiency, Globoid cell leukodystrophy]","A rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterized by neurodegeneration with severity depending on the age of onset (infantile, late-infantile, juvenile, adolescent and adulthood).","[245200, 611722]",,,,,Krabbe disease,TRUE,FALSE,Active +GARD:6845,Active,Orphanet,ORPHA:228340,Subtype of disorder,[Etiological subtype],CLN4A disease,,,[204300],,,,,Autosomal recessive neuronal ceroid lipofuscinosis 4A,TRUE,FALSE,Active +GARD:6848,Active,Orphanet,ORPHA:2363,Disorder,[Malformation syndrome],Lacrimoauriculodentodigital syndrome,"[LADD syndrome, LARD syndrome, Lacrimoauriculoradiodental syndrome, Levy-Hollister syndrome]","A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system, anomalies of the ears with sensorineural or mixed hearing loss, hypoplasia, aplasia or atresia of the salivary glands, dental anomalies, and digital malformations. Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. Dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. The digital features are variable and include fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and/or syndactyly. Unilateral radial aplasia and radial-ulnar synostosis have also been reported in association.",[149730],,,,,Lacrimo-auriculo-dento-digital syndrome,TRUE,FALSE,Active +GARD:685,Active,Orphanet,ORPHA:1069,Disorder,[Malformation syndrome],Aniridia-absent patella syndrome,,"A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.",[106220],,,,,Aniridia absent patella,TRUE,FALSE,Active +GARD:6851,Active,Orphanet,ORPHA:43393,Disorder,[Disease],Lambert-Eaton myasthenic syndrome,,"Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).",,,,,,Lambert Eaton myasthenic syndrome,TRUE,FALSE,Active +GARD:6855,Active,Orphanet,ORPHA:98818,Disorder,[Disease],Landau-Kleffner syndrome,"[Acquired epileptic aphasia, LKS]",Landau-Kleffner syndrome (LKS) is an age-related epileptic encephalopathy where developmental regression occurs mainly in the language domain and the electroencephalographic (EEG) abnormalities are mainly localized around the temporal-parietal regions. The term acquired epileptic aphasia describes the main features of this condition.,[245570],,,,,Landau-Kleffner syndrome,TRUE,FALSE,Active +GARD:6858,Active,Orphanet,ORPHA:389,Disorder,[Disease],Langerhans cell histiocytosis,"[Histiocytosis X, Langerhans cell granulomatosis]",Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.,[604856],,,,,Langerhans cell histiocytosis,TRUE,FALSE,Active +GARD:6859,Active,Orphanet,ORPHA:633,Disorder,[Disease],Laron syndrome,"[Complete growth hormone insensitivity, GH receptor deficiency, Growth hormone receptor deficiency, Laron-type dwarfism, Primary GH insensitivity, Primary GH resistance, Primary growth hormone insensitivity, Primary growth hormone resistance, Short stature due to growth hormone resistance]",Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.,[262500],,,,,Laron syndrome,TRUE,FALSE,Active +GARD:686,Legacy,GARD,,,,,,,,,,,,Aniridia ataxia renal agenesis psychomotor retardation,TRUE,FALSE,Retired +GARD:6860,Active,Orphanet,ORPHA:503,Disorder,[Malformation syndrome],Larsen syndrome,,"An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.",[150250],,,,,Larsen syndrome,TRUE,FALSE,Active +GARD:6862,Legacy,GARD,,,,,,,,,,,,Laryngeal cancer,TRUE,FALSE,Active +GARD:6864,Legacy,GARD,,,,,,,,,,,,Laryngeal papillomatosis,TRUE,FALSE,Active +GARD:6865,Active,Orphanet,ORPHA:2373,Disorder,[Malformation syndrome],Congenital laryngomalacia,,"A rare larynx anomaly characterized by an inward collapse of supraglottic airway during inspiration, which manifests with an inspiratory stridor and might be associated with feeding difficulties, swallowing dysfunction, failure to thrive, and respiratory distress.",[150280],,,,,Laryngomalacia,TRUE,FALSE,Active +GARD:6866,Active,Orphanet,ORPHA:110,Disorder,[Disease],Bardet-Biedl syndrome,[BBS],"A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.","[615985, 615992, 615986, 615993, 615994, 617119, 615995, 615987, 615981, 615988, 605231, 615989, 209900, 615996, 615990, 615982, 617406, 615983, 600151, 615984, 615991]",,,,,Bardet-Biedl syndrome,TRUE,FALSE,Active +GARD:6867,Active,Orphanet,ORPHA:5,Disorder,[Disease],Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,"[LCHAD deficiency, LCHADD, Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]","A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.",[609016],,,,,LCHAD deficiency,TRUE,FALSE,Active +GARD:6870,Active,Orphanet,ORPHA:104,Disorder,[Disease],Leber hereditary optic neuropathy,"[LHON, Leber optic atrophy]","A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy.","[535000, 308905]",,,,,Leber hereditary optic neuropathy,TRUE,FALSE,Active +GARD:6873,Active,Orphanet,ORPHA:199251,Disorder,[Disease],Ledderhose disease,[Plantar fibromatosis],"A rare, benign, superficial fibromatosis disease characterized by single or multiple, uni- or bilateral, fixed, slow-growing, round, firm nodules typically located on the medial portion of the plantar aponeurosis, with no calcification. Patients are often asymptomatic or may present with foot pain, difficulty to walk or stand and, rarely, toe contractures. Histopathology reveals dense fibrocellular tissue with parallel and nodular arrays of fibrocytes and fibrillar collagen with a distinctive cork-screw morphology and no atypia.",,,,,,Ledderhose disease,TRUE,FALSE,Active +GARD:6874,Active,Orphanet,ORPHA:2380,Disorder,[Disease],Legg-Calvé-Perthes disease,"[Aseptic necrosis of the capital femoral epiphysis, Osteochondrosis of the capital femoral epiphysis, Perthes disease]",A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.,[150600],,,,,Legg-Calve-Perthes disease,TRUE,FALSE,Active +GARD:6876,Active,Orphanet,ORPHA:549,Disorder,[Disease],Legionnaires disease,,Legionellosis or Legionnaires' disease (LD) is a bacterial lung infection characterized by a potentially fatal pneumonia.,,,,,,Legionnaires’ disease,TRUE,FALSE,Active +GARD:6877,Active,Orphanet,ORPHA:506,Group of disorders,[Clinical group],Leigh syndrome,"[Infantile subacute necrotizing encephalopathy, Leigh disease]",A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.,[256000],,,,,Leigh syndrome,TRUE,FALSE,Active +GARD:6878,Active,Orphanet,ORPHA:314,Disorder,[Disease],Erythroderma desquamativum,[Leiner disease],"A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly Staphylococcus aureus, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.",[609536],,,,,Leiner disease,TRUE,FALSE,Active +GARD:688,Legacy,GARD,,,,,,,,,,,,Aniridia mental retardation syndrome,TRUE,FALSE,Retired +GARD:6880,Active,Orphanet,ORPHA:64720,Disorder,[Disease],Leiomyosarcoma,,"A rare soft tissue sarcoma characterized by a malignant space-occupying lesion most commonly located in the retroperitoneum or the inferior vena cava, but also other soft tissues, and composed of cells showing distinct features of smooth muscle cells. The tumor presents with mass effect depending on the location. It is capable of both local recurrence and distant metastasis, while lymph node metastasis is rare. Prognosis largely depends on tumor location and size.",,,,,,Leiomyosarcoma,TRUE,FALSE,Active +GARD:6881,Active,Orphanet,ORPHA:507,Disorder,[Disease],Leishmaniasis,,"A parasitic disease caused by different species of the genus Leishmania, transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).",[608207],,,,,Leishmaniasis,TRUE,FALSE,Active +GARD:6882,Active,Orphanet,ORPHA:137839,Disorder,[Disease],Lemierre syndrome,"[Lemierre postanginal sepsis, Postanginal sepsis secondary to orophyngeal infection, Septic phlebitis of the internal jugular vein]","Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.",,,,,,Lemierre syndrome,TRUE,FALSE,Active +GARD:6885,Active,Orphanet,ORPHA:508,Disorder,[Malformation syndrome],Leprechaunism,[Donohue syndrome],"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.",[246200],,,,,Leprechaunism,TRUE,FALSE,Active +GARD:6886,Active,Orphanet,ORPHA:548,Disorder,[Disease],Leprosy,,A chronic infectious disease affecting primarily the skin and peripheral nervous system.,"[609888, 613223, 607572, 610988, 246300, 613407]",,,,,Hansen's disease,TRUE,FALSE,Active +GARD:689,Active,Orphanet,ORPHA:1067,Disorder,[Malformation syndrome],Aniridia-ptosis-intellectual disability-familial obesity syndrome,,"An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.",,,,,,Aniridia - ptosis - intellectual disability - familial obesity,TRUE,FALSE,Active +GARD:6892,Legacy,GARD,,,,,,,,,,,,Leukemia subleukemic,TRUE,FALSE,Active +GARD:6893,Active,Orphanet,ORPHA:99842,Subtype of disorder,[Clinical subtype],Leukocyte adhesion deficiency type I,[LAD-I],"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.",[116920],,,,,Leukocyte adhesion deficiency type 1,TRUE,FALSE,Active +GARD:6895,Active,Orphanet,ORPHA:68356,Group of disorders,[Category],Leukodystrophy,,,,,,,,Leukodystrophy,TRUE,FALSE,Active +GARD:6896,Legacy,GARD,,,,,,,,,,,,Leukomalacia,TRUE,FALSE,Retired +GARD:6897,Legacy,GARD,,,,,,,,,,,,Leukoplakia,TRUE,FALSE,Active +GARD:6899,Legacy,GARD,,,,,,,,,,,,Levator syndrome,TRUE,FALSE,Active +GARD:69,Active,Orphanet,ORPHA:319247,Disorder,[Disease],Hantavirus pulmonary syndrome,,"A rare viral hemorrhagic fever characterized by virus-induced microvascular leakage rapidly leading to a severe illness with diffuse pulmonary edema and respiratory failure. These symptoms set in after a short first disease stage with fever, myalgia, and headache, followed by severe gastrointestinal symptoms such as abdominal pain, vomiting, and diarrhea. The high lethality of the disease is due to the possible development of hypotension and cardiogenic shock.",,,,,,Hantavirus pulmonary syndrome,TRUE,FALSE,Active +GARD:690,Active,Orphanet,ORPHA:1064,Disorder,[Malformation syndrome],Aniridia-renal agenesis-psychomotor retardation syndrome,[Sommer-Rathbun-Battles syndrome],"An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.",[206750],,,,,Aniridia renal agenesis psychomotor retardation,TRUE,FALSE,Active +GARD:6901,Active,Orphanet,ORPHA:65285,Disorder,[Disease],Lhermitte-Duclos disease,"[Dysplastic gangliocytoma of the cerebellum, LDD]","A very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.",[158350],,,,,Lhermitte-Duclos disease,TRUE,FALSE,Active +GARD:6902,Active,Orphanet,ORPHA:524,Disorder,[Disease],Li-Fraumeni syndrome,,"A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers.","[151623, 609265]",,,,,Li-Fraumeni syndrome,TRUE,FALSE,Active +GARD:6905,Legacy,GARD,,,,,,,,,,,,Lichen sclerosus,TRUE,FALSE,Active +GARD:6906,Active,Orphanet,ORPHA:93558,Subtype of disorder,[Clinical subtype],Light chain deposition disease,[LCDD],"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by deposition of abnormal immunoglobulin light chains in the kidneys, resulting in nephrotic syndrome and renal failure. Symptomatic extrarenal deposition is uncommon, although hepatic, cardiac, and neural deposits have been reported. The condition frequently occurs in association with multiple myeloma or in patients with M protein and marrow plasma cells at monoclonal gammopathy of undetermined significance levels.",,,,,,Light chain deposition disease,TRUE,FALSE,Active +GARD:6907,Active,Orphanet,ORPHA:263,Group of disorders,[Clinical group],Limb-girdle muscular dystrophy,[LGMD],Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.,,,,,,Limb-girdle muscular dystrophy,TRUE,FALSE,Active +GARD:6909,Legacy,GARD,,,,,,,,,,,,Lipodystrophy,TRUE,FALSE,Retired +GARD:6910,Legacy,GARD,,,,,,,,,,,,Lipogranulomatosis,TRUE,FALSE,Active +GARD:6913,Active,Orphanet,ORPHA:69078,Disorder,[Disease],Liposarcoma,,"Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla.",[613488],,,,,Liposarcoma,TRUE,FALSE,Active +GARD:6914,Active,Orphanet,ORPHA:2148,Disorder,[Disease],Lissencephaly type 1 due to doublecortin gene mutation,[X-linked lissencephaly type 1],Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.,[300067],,,,,Lissencephaly X-linked,TRUE,FALSE,Active +GARD:6915,Active,Orphanet,ORPHA:533,Disorder,[Disease],Listeriosis,[Listeria infection],"A rare bacterial infectious disease caused by the foodborne pathogen Listeria monocytogenes, characterized by a febrile gastroenteritis, which is usually mild and self-limiting in otherwise healthy persons, but can progress to severe illness in at-risk groups like pregnant women, elderly people, immunocompromised people, and neonates. Complications include sepsis, meningitis, and encephalitis. Listeriosis during pregnancy usually occurs during the third trimester and may lead to preterm labor, miscarriage, stillbirth, or intrauterine infection of the unborn child.",,,,,,Listeria infection,TRUE,FALSE,Active +GARD:6919,Active,Orphanet,ORPHA:2406,Disorder,[Disease],Locked-in syndrome,[Cerebromedullospinal disconnection],"Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.",,,,,,Locked-in syndrome,TRUE,FALSE,Active +GARD:6920,Legacy,GARD,,,,,,,,,,,,Loin pain hematuria syndrome,TRUE,FALSE,Active +GARD:6922,Legacy,GARD,,,,,,,,,,,,Long QT syndrome,FALSE,FALSE,Active +GARD:693,Active,Orphanet,ORPHA:1070,Disorder,[Disease],Anisakiasis,,"A fish-borne zoonosis caused by the ingestion of third stage larvae of nematodes belonging to the genus Anisakis, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock).",,,,,,Anisakiasis,TRUE,FALSE,Active +GARD:6932,Legacy,GARD,,,,,,,,,,,,Lymph Node Neoplasm,TRUE,FALSE,Active +GARD:6933,Legacy,GARD,,,,,,,,,,,,Lymphangiectasis,TRUE,FALSE,Active +GARD:6936,Legacy,GARD,,,,,,,,,,,,Lymphatic neoplasm,TRUE,FALSE,Retired +GARD:6938,Legacy,GARD,,,,,,,,,,,,Lymphocytes absent,TRUE,FALSE,Retired +GARD:6939,Legacy,GARD,,,,,,,,,,,,Lymphocytic colitis,FALSE,FALSE,Active +GARD:694,Legacy,GARD,,,,,,,,,,,,Ankle defects short stature,TRUE,FALSE,Retired +GARD:6940,Active,Orphanet,ORPHA:33314,Disorder,[Disease],Jessner lymphocytic infiltration of the skin,[Jessner-Kanof lymphocytic infiltration of the skin],Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.,,,,,,Lymphocytic infiltrate of Jessner,TRUE,FALSE,Active +GARD:6941,Legacy,GARD,,,,,,,,,,,,Lymphocytic vasculitis,TRUE,FALSE,Active +GARD:6943,Active,Orphanet,ORPHA:86869,Disorder,[Disease],Lymphomatoid granulomatosis,[LYG],"Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.",,,,,,Lymphomatoid granulomatosis,TRUE,FALSE,Active +GARD:6944,Active,Orphanet,ORPHA:98842,Disorder,[Disease],Lymphomatoid papulosis,[LyP],"Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL; see this term) with which it shares overlapping clinical and histopathologic features.",,,,,,Lymphomatoid papulosis,TRUE,FALSE,Active +GARD:6945,Legacy,GARD,,,,,,,,,,,,Lymphomatous thyroiditis,TRUE,FALSE,Active +GARD:6946,Legacy,GARD,,,,,,,,,,,,Lymphosarcoma,TRUE,FALSE,Active +GARD:6950,Active,Orphanet,ORPHA:60040,Disorder,[Malformation syndrome],Megalencephaly-capillary malformation-polymicrogyria syndrome,"[MCAP, MCM, MCMTC, Macrocephaly-capillary malformation syndrome, Macrocephaly-cutis marmorata telangiectatica congenita syndrome, Megalencephaly-capillary malformation syndrome, Megalencephaly-cutis marmorata telangiectatica congenita syndrome]","A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies.",[602501],,,,,Megalencephaly-capillary malformation syndrome,TRUE,FALSE,Active +GARD:6951,Active,Orphanet,ORPHA:295047,Disorder,[Morphological anomaly],Macrodactyly of toes,[Macrodactyly of foot],"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of a foot. Enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. It typically occurs within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter.",,,,,,Macrodactyly of toes,TRUE,FALSE,Active +GARD:6953,Active,Orphanet,ORPHA:98969,Disorder,[Disease],Macular corneal dystrophy,"[Corneal dystrophy Groenouw type II, Fehr corneal dystrophy, MCD]","Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.",[217800],,,,,"Macular dystrophy, corneal type 1",TRUE,FALSE,Active +GARD:6956,Active,Orphanet,ORPHA:204,Disorder,[Disease],Sporadic Creutzfeldt-Jakob disease,[Sporadic CJD],"A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis.",[123400],,,,,Creutzfeldt-Jakob disease,TRUE,FALSE,Active +GARD:6957,Active,Orphanet,ORPHA:2398,Disorder,[Disease],Multiple symmetric lipomatosis,"[Cephalothoracic lipodystrophy, Familial benign cervical lipomatosis, Launois-Bensaude lipomatosis, Madelung disease]","A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).",[151800],,,,,Multiple symmetric lipomatosis,TRUE,FALSE,Active +GARD:6958,Active,Orphanet,ORPHA:163634,Disorder,[Disease],Maffucci syndrome,,A rare nonhereditary mesodermal dysplasia characterized by multiple enchondromatosis associated with soft tissue hemangiomas.,[614569],,,,,Maffucci syndrome,TRUE,FALSE,Active +GARD:6959,Active,Orphanet,ORPHA:210272,Disorder,[Clinical syndrome],Mal de débarquement,"[Disembarkment syndrome, MdD, MdDS, Sickness of disembarkment]","Mal de débarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.",,,,,,Mal de debarquement syndrome,TRUE,FALSE,Active +GARD:696,Active,Orphanet,ORPHA:1072,Subtype of disorder,[Clinical subtype],Ankyloblepharon filiforme adnatum-cleft palate syndrome,,"A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.",[106250],,,,,Ankyloblepharon filiforme adnatum cleft palate,TRUE,FALSE,Active +GARD:6960,Active,Orphanet,ORPHA:556,Disorder,[Disease],Malakoplakia,,Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.,,,,,,Malakoplakia,TRUE,FALSE,Active +GARD:6961,Active,Orphanet,ORPHA:673,Disorder,[Disease],Malaria,,"A life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.",[611162],,,,,Malaria,TRUE,FALSE,Active +GARD:6963,Active,Orphanet,ORPHA:2023,Disorder,[Disease],Undifferentiated pleomorphic sarcoma,[UPS],"An aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis.",,,,,,Undifferentiated pleomorphic sarcoma,TRUE,FALSE,Active +GARD:6964,Active,Orphanet,ORPHA:423,Disorder,[Disease],Malignant hyperthermia of anesthesia,[Hyperthermia of anesthesia],"Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.","[601888, 154275, 154276, 600467, 145600, 601887]",,,,,Malignant hyperthermia,TRUE,FALSE,Active +GARD:6966,Legacy,GARD,,,,,,,,,,,,Malignant mixed Mullerian tumor,TRUE,FALSE,Active +GARD:6967,Legacy,GARD,,,,,,,,,,,,Mallory-Weiss syndrome,TRUE,FALSE,Active +GARD:6968,Active,Orphanet,ORPHA:61,Disorder,[Disease],Alpha-mannosidosis,[Lysosomal alpha-D-mannosidase deficiency],"An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.",[248500],,,,,Alpha-mannosidosis,TRUE,FALSE,Active +GARD:6969,Active,Orphanet,ORPHA:52416,Disorder,[Disease],Mantle cell lymphoma,"[LCM, MCL, Mantle zone lymphoma]",Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.,,,,,,Mantle cell lymphoma,TRUE,FALSE,Active +GARD:697,Active,Orphanet,ORPHA:1074,Subtype of disorder,[Clinical subtype],Ankyloblepharon filiforme adnatum-imperforate anus syndrome,[Aughton-Hufnagle syndrome],"An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.",,,,,,Ankyloblepharon filiforme imperforate anus,TRUE,FALSE,Active +GARD:6971,Active,Orphanet,ORPHA:221074,Disorder,[Disease],Marchiafava-Bignami disease,[MBD],"A rare neurologic disease most prominently characterized by progressive demyelination and necrosis of the corpus callosum. It is in most cases associated with chronic alcoholism and malnutrition. Speed of onset and clinical presentation are very variable with a range of possible symptoms, including dementia, seizures, gait abnormalities, dysarthria, aphasia, athetosis, as well as stupor and coma.",,,,,,Marchiafava Bignami disease,TRUE,FALSE,Active +GARD:6972,Active,Orphanet,ORPHA:91412,Disorder,[Disease],Marcus-Gunn syndrome,"[Jaw-winking syndrome, Mandibulo-palpebral synkinesis-ptosis syndrome, Marcus-Gunn phenomenon]",Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis.,[154600],,,,,Marcus Gunn phenomenon,TRUE,FALSE,Active +GARD:6973,Active,Orphanet,ORPHA:2461,Disorder,[Malformation syndrome],Marden-Walker syndrome,,"A rare developmental defect during embryogenesis characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.",[248700],,,,,Marden-Walker syndrome,TRUE,FALSE,Active +GARD:6974,Legacy,GARD,,,,,,,,,,,,Marek disease,TRUE,FALSE,Active +GARD:6975,Active,Orphanet,ORPHA:284963,Subtype of disorder,[Clinical subtype],Marfan syndrome type 1,[MFS1],,[154700],,,,,Marfan syndrome,TRUE,FALSE,Active +GARD:6981,Legacy,GARD,,,,,,,,,,,,Marie type ataxia,TRUE,FALSE,Retired +GARD:6984,Active,Orphanet,ORPHA:560,Disorder,[Malformation syndrome],Marshall syndrome,,"A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.",[154780],,,,,Marshall syndrome,TRUE,FALSE,Active +GARD:6985,Active,Orphanet,ORPHA:561,Disorder,[Malformation syndrome],Marshall-Smith syndrome,[Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome],"A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies, airway obstructions, failure to thrive, developmental delay, moderate to severe intellectual disability and characteristic facial features with macrocephaly, prominent forehead, shallow orbits, proptosis and blue sclerae.",[602535],,,,,Marshall-Smith syndrome,TRUE,FALSE,Active +GARD:6986,Active,Orphanet,ORPHA:2466,Subtype of disorder,[Clinical subtype],MASA syndrome,[Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome],"A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.",[303350],,,,,Spastic paraplegia 1,TRUE,FALSE,Active +GARD:6987,Active,Orphanet,ORPHA:98292,Group of disorders,[Category],Mastocytosis,,,[154800],,,,,Mastocytosis,TRUE,FALSE,Active +GARD:6991,Legacy,GARD,,,,,,,,,,,,Maxillofacial dysostosis,TRUE,FALSE,Active +GARD:6992,Active,Orphanet,ORPHA:1248,Disorder,[Malformation syndrome],Maxillonasal dysplasia,"[Binder syndrome, Maxillonasal dysostosis]","Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.",[155050],,,,,"Maxillonasal dysplasia, Binder type",TRUE,FALSE,Active +GARD:6995,Active,Orphanet,ORPHA:562,Disorder,[Disease],McCune-Albright syndrome,[Gonadotropin-independent female-limited sexual precocity],"McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).",[174800],,,,,McCune-Albright syndrome,TRUE,FALSE,Active +GARD:6996,Active,Orphanet,ORPHA:175,Disorder,[Disease],Cartilage-hair hypoplasia,"[Autosomal recessive metaphyseal chondrodysplasia, Metaphyseal chondrodysplasia, McKusick type]",Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.,"[250250, 250460]",,,,,Cartilage-hair hypoplasia,TRUE,FALSE,Active +GARD:7,Active,Orphanet,ORPHA:969,Disorder,[Malformation syndrome],Acromicric dysplasia,,"A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.",[102370],,,,,Acromicric dysplasia,TRUE,FALSE,Active +GARD:70,Active,Orphanet,ORPHA:2330,Disorder,[Disease],Kasabach-Merritt syndrome,[Hemangioma-thrombocytopenia syndrome],"Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.",[141000],,,,,Hemangioma thrombocytopenia syndrome,TRUE,FALSE,Active +GARD:7002,Active,Orphanet,ORPHA:88949,Subtype of disorder,[Clinical subtype],MUC1-related autosomal dominant tubulointerstitial kidney disease,"[ADTKD-MUC1, MCKD1, MUC1-related medullary cystic kidney disease, MUCI-related ADTKD, Medullary cystic kidney disease type 1]",,[174000],,,,,Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations,TRUE,FALSE,Active +GARD:7004,Active,Orphanet,ORPHA:1332,Disorder,[Disease],Medullary thyroid carcinoma,[MTC],Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT).,,,,,,"Thyroid cancer, medullary",TRUE,FALSE,Active +GARD:7005,Active,Orphanet,ORPHA:616,Disorder,[Disease],Medulloblastoma,,"A rare embryonic tumor of the neuroepithelial tissue characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia. The disease can be classified according to histological (classic, anaplastic, large-cell, or desmoplatic medulloblastoma, or medulloblastoma with extensive nodularity) and molecular criteria (WNT-activated, sonic-hedgehog-activated, group 3, group 4).",[155255],,,,,Medulloblastoma,TRUE,FALSE,Active +GARD:7006,Active,Orphanet,ORPHA:35858,Disorder,[Disease],Imerslund-Gräsbeck syndrome,"[Familial megaloblastic anemia, Selective cobalamin malabsorption with proteinuria]","Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.","[618882, 261100]",,,,,Imerslund-Grasbeck syndrome,TRUE,FALSE,Active +GARD:7008,Active,Orphanet,ORPHA:93964,Disorder,[Disease],Blepharospasm-oromandibular dystonia syndrome,"[Meige dystonia, Meige syndrome]",A focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.,,,,,,Meige syndrome,TRUE,FALSE,Active +GARD:7009,Active,Orphanet,ORPHA:550,Disorder,[Disease],MELAS,"[Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes, Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes]","A rare neurometabolic genetic disorder which is progressive and multisystemic due to mitochondrial dysfunction and that is characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes.",[540000],,,,,Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes,TRUE,FALSE,Active +GARD:701,Active,Orphanet,ORPHA:1077,Disorder,[Malformation syndrome],Dental ankylosis,[Ankylosis of teeth],A rare odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility.,,,,,,Ankylosis of teeth,TRUE,FALSE,Active +GARD:7010,Active,Orphanet,ORPHA:2483,Disorder,[Malformation syndrome],Melkersson-Rosenthal syndrome,,"A rare orofacial granulomatosis characterized by the triad of recurrent or persistent orofacial edema (facial and lip edemas), fissured tongue, and relapsing, unilateral or bilateral peripheral facial nerve paralysis. Most cases present with partial symptoms. Typical age of onset is in childhood or adolescence. Histological examination shows non-caseating epithelioid cell granulomas and lymphedema.",[155900],,,,,Melkersson-Rosenthal syndrome,TRUE,FALSE,Active +GARD:7011,Active,Orphanet,ORPHA:2484,Disorder,[Malformation syndrome],Melnick-Needles syndrome,[Melnick-Needles osteodysplasty],"Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.",[309350],,,,,Melnick-Needles syndrome,TRUE,FALSE,Active +GARD:7015,Active,Orphanet,ORPHA:2495,Disorder,[Disease],Meningioma,,"A rare, mostly benign, neoplastic disease characterized by a primary tumor of the meninges, usually located intracranially (~90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumor and may include seizures, focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control.",[606190],,,,,Meningioma,TRUE,FALSE,Active +GARD:7021,Active,Orphanet,ORPHA:330021,Disorder,[Disease],Mercury poisoning,"[Hydrargyria, Mercurialism, Mercury intoxication]","Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.",,,,,,Mercury poisoning,TRUE,FALSE,Active +GARD:7026,Active,Orphanet,ORPHA:50251,Disorder,[Disease],Pleural mesothelioma,,"Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.",[156240],,,,,Malignant mesothelioma,TRUE,FALSE,Active +GARD:7029,Active,Orphanet,ORPHA:174,Disorder,[Disease],"Metaphyseal chondrodysplasia, Schmid type",,"Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.",[156500],,,,,Metaphyseal chondrodysplasia Schmid type,TRUE,FALSE,Active +GARD:7030,Legacy,GARD,,,,,,,,,,,,Metastatic insulinoma,TRUE,FALSE,Active +GARD:7033,Legacy,GARD,,,,,,,,,,,,Methylmalonic acidemia,TRUE,FALSE,Active +GARD:7034,Legacy,GARD,,,,,,,,,,,,Monoclonal gammopathy of undetermined significance,TRUE,FALSE,Active +GARD:7035,Active,Orphanet,ORPHA:321,Disorder,[Disease],Multiple osteochondromas,"[Bessel-Hagen disease, Multiple cartilaginous exostoses]",A primary bone disorder characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) at the surface of the bones.,"[133700, 600209, 133701]",,,,,Hereditary multiple osteochondromas,TRUE,FALSE,Active +GARD:7036,Legacy,GARD,,,,,,,,,,,,"Microcephaly with chorioretinopathy, autosomal dominant form",TRUE,FALSE,Active +GARD:7038,Legacy,GARD,,,,,,,,,,,,Microencephaly,TRUE,FALSE,Active +GARD:7039,Active,Orphanet,ORPHA:2290,Disorder,[Disease],Microvillus inclusion disease,"[Congenital microvillous atrophy, Congenital microvillus atrophy, MVID, Microvillous inclusion disease]",Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.,[251850],,,,,Microvillus inclusion disease,TRUE,FALSE,Active +GARD:704,Legacy,GARD,,,,,,,,,,,,Annular constricting bands,TRUE,FALSE,Active +GARD:7041,Active,Orphanet,ORPHA:86879,Disorder,[Disease],Extranodal nasal NK/T cell lymphoma,"[Angiocentric T-cell lymphoma, Lethal midline granuloma, NK/T-cell lymphoma, NKTCL, Nasal T/natural killer-cell lymphoma]","Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.",,,,,,Midline lethal granuloma,TRUE,FALSE,Active +GARD:7043,Active,Orphanet,ORPHA:79078,Subtype of disorder,[Clinical subtype],IgG4-related dacryoadenitis and sialadenitis,"[Chronic dacryoadenitis and sialadenitis, Mikulicz disease]","IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms).",,,,,,IgG4-related dacryoadenitis and sialadenitis,TRUE,FALSE,Active +GARD:7048,Legacy,GARD,,,,,,,,,,,,Mitochondrial genetic disorders,TRUE,FALSE,Active +GARD:705,Active,Orphanet,ORPHA:675,Disorder,[Morphological anomaly],Annular pancreas,,A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.,[167750],,,,,Annular pancreas,TRUE,FALSE,Active +GARD:7051,Active,Orphanet,ORPHA:809,Disorder,[Disease],Mixed connective tissue disease,"[MCTD, Sharp syndrome]","Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).",,,,,,Mixed connective tissue disease,TRUE,FALSE,Active +GARD:7054,Legacy,GARD,,,,,,,,,,,,Mondor disease,TRUE,FALSE,Active +GARD:7056,Legacy,GARD,,,,,,,,,,,,Mononeuritis multiplex,TRUE,FALSE,Active +GARD:7058,Active,Orphanet,ORPHA:90289,Disorder,[Disease],Localized scleroderma,[Localized fibrosing scleroderma],Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips.,,,,,,Localized scleroderma,TRUE,FALSE,Active +GARD:7059,Legacy,GARD,,,,,,,,,,,,Morquio syndrome C,TRUE,FALSE,Retired +GARD:7060,Legacy,GARD,,,,,,,,,,,,Chromosome 16 trisomy,TRUE,FALSE,Active +GARD:7061,Legacy,GARD,,,,,,,,,,,,Motor neuro-ophthalmic disorders,TRUE,FALSE,Retired +GARD:7064,Active,Orphanet,ORPHA:2573,Disorder,[Disease],Moyamoya disease,[Idiopathic Moyamoya disease],Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.,"[607151, 608796, 614042, 252350]",,,,,Moyamoya disease,TRUE,FALSE,Active +GARD:7065,Active,Orphanet,ORPHA:79213,Group of disorders,[Category],Mucopolysaccharidosis,,,,,,,,Mucopolysaccharidosis,TRUE,FALSE,Active +GARD:707,Legacy,GARD,,,,,,,,,,,,Anorectal atresia,TRUE,FALSE,Retired +GARD:7071,Active,Orphanet,ORPHA:79269,Subtype of disorder,[Etiological subtype],Sanfilippo syndrome type A,"[Heparan sulfamidase deficiency, MPS3A, MPSIIIA, Mucopolysaccharidosis type 3A, Mucopolysaccharidosis type IIIA]",,[252900],,,,,Mucopolysaccharidosis type IIIA,TRUE,FALSE,Active +GARD:7072,Active,Orphanet,ORPHA:79270,Subtype of disorder,[Etiological subtype],Sanfilippo syndrome type B,"[MPS3B, MPSIIIB, Mucopolysaccharidosis type 3B, Mucopolysaccharidosis type IIIB, N-acetyl-alpha-glucosaminidase deficiency]",,[252920],,,,,Mucopolysaccharidosis type IIIB,TRUE,FALSE,Active +GARD:7073,Active,Orphanet,ORPHA:79271,Subtype of disorder,[Etiological subtype],Sanfilippo syndrome type C,"[HGSNAT deficiency, Heparan-alpha-glucosaminide N-acetyltransferase deficiency, MPS3C, MPSIIIC, Mucopolysaccharidosis type 3C, Mucopolysaccharidosis type IIIC]",,[252930],,,,,Mucopolysaccharidosis type IIIC,TRUE,FALSE,Active +GARD:7074,Active,Orphanet,ORPHA:79272,Subtype of disorder,[Etiological subtype],Sanfilippo syndrome type D,"[GNS deficiency, Glucosamine N-acetyl-6-sulfatase deficiency, MPS3D, MPSIIID, Mucopolysaccharidosis type 3D, Mucopolysaccharidosis type IIID]",,[252940],,,,,Mucopolysaccharidosis type IIID,TRUE,FALSE,Active +GARD:7079,Active,Orphanet,ORPHA:102,Disorder,[Disease],Multiple system atrophy,"[MSA, Multisystem atrophy]","Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.",[146500],,,,,Multiple system atrophy,TRUE,FALSE,Active +GARD:708,Legacy,GARD,,,,,,,,,,,,Anonychia ectrodactyly,TRUE,FALSE,Active +GARD:709,Legacy,GARD,,,,,,,,,,,,Anonychia total with microcephaly,TRUE,FALSE,Retired +GARD:7095,Active,Orphanet,ORPHA:583,Disorder,[Disease],Mucopolysaccharidosis type 6,"[ARSB deficiency, ASB deficiency, Arylsulfatase B deficiency, MPS6, MPSVI, Maroteaux-Lamy disease, Mucopolysaccharidosis type VI, N-acetylgalactosamine 4-sulfatase deficiency]","Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.",[253200],,,,,Mucopolysaccharidosis type VI,TRUE,FALSE,Active +GARD:7096,Active,Orphanet,ORPHA:584,Disorder,[Disease],Mucopolysaccharidosis type 7,"[Beta-glucuronidase deficiency, MPS7, MPSVII, Mucopolysaccharidosis type VII, Sly disease]","A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease.",[253220],,,,,Mucopolysaccharidosis type VII,TRUE,FALSE,Active +GARD:7097,Active,Orphanet,ORPHA:53271,Disorder,[Malformation syndrome],Muenke syndrome,,"Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.",[602849],,,,,Muenke Syndrome,TRUE,FALSE,Active +GARD:7099,Legacy,GARD,,,,,,,,,,,,Mullerian agenesis,TRUE,FALSE,Retired +GARD:71,Legacy,GARD,,,,,,,,,,,,Human granulocytic ehrlichiosis,TRUE,FALSE,Active +GARD:710,Active,Orphanet,ORPHA:90390,Subtype of disorder,[Clinical subtype],Anonychia-onychodystrophy syndrome,,,"[107000, 614149]",,,,,Onychodystrophy-anonychia,TRUE,FALSE,Active +GARD:7100,Active,Orphanet,ORPHA:73217,Group of disorders,[Clinical group],Müllerian aplasia,"[Aplasia of the Müllerian ducts, Müllerian duct failure]",,,,,,,Mullerian aplasia,TRUE,FALSE,Active +GARD:7103,Active,Orphanet,ORPHA:139436,Disorder,[Disease],Multicentric reticulohistiocytosis,"[Giant cell histiocytomatosis, Lipoid dermatoarthritis]",A rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.,,,,,,Multicentric reticulohistiocytosis,TRUE,FALSE,Active +GARD:7104,Legacy,GARD,,,,,,,,,,,,"Multiple carboxylase deficiency, propionic acidemia",TRUE,FALSE,Retired +GARD:7108,Active,Orphanet,ORPHA:29073,Disorder,[Disease],Multiple myeloma,"[Kahler disease, Medullary plasmacytoma, Myelomatosis, Plasma cell myeloma]","Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).",[254500],,,,,Multiple myeloma,TRUE,FALSE,Active +GARD:711,Legacy,GARD,,,,,,,,,,,,Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly,TRUE,FALSE,Active +GARD:7111,Active,Orphanet,ORPHA:2990,Disorder,[Malformation syndrome],Autosomal recessive multiple pterygium syndrome,"[Autosomal recessive non-lethal multiple pterygium syndrome, EVMPS, Escobar syndrome, Escobar variant multiple pterygium syndrome]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital pterygia (webbing) mainly affecting the neck and large joints, arthrogryposis multiplex, short stature, and craniofacial dysmorphism (including ptosis, downslanting palpebral fissures, high-arched palate, and retrognathia). Additional manifestations are decreased movements, facial weakness, respiratory distress, vertebral anomalies, scoliosis, anomalies of the fingers, and cryptorchidism, among others. The disease is a non-lethal variant of multiple pterygium syndrome.","[618469, 265000]",,,,,Multiple pterygium syndrome Escobar type,TRUE,FALSE,Active +GARD:7116,Legacy,GARD,,,,,,,,,,,,Mumps,TRUE,FALSE,Active +GARD:7117,Legacy,GARD,,,,,,,,,,,,Munchausen by proxy syndrome,TRUE,FALSE,Active +GARD:7121,Legacy,GARD,,,,,,,,,,,,Myalgic encephalomyelitis/chronic fatigue syndrome,FALSE,FALSE,Active +GARD:7122,Active,Orphanet,ORPHA:589,Disorder,[Disease],Myasthenia gravis,"[Acquired myasthenia, Autoimmune myasthenia gravis]","Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.","[607085, 159400, 254200]",,,,,Myasthenia gravis,TRUE,FALSE,Active +GARD:7123,Legacy,GARD,,,,,,,,,,,,Mycobacterium Avium Complex infections,TRUE,FALSE,Active +GARD:7125,Legacy,GARD,,,,,,,,,,,,Mycoplasmal pneumonia,TRUE,FALSE,Active +GARD:713,Active,Orphanet,ORPHA:2470,Disorder,[Malformation syndrome],Matthew-Wood syndrome,"[Anophthalmia-pulmonary hypoplasia syndrome, PDAC syndrome, Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome, Spear syndrome]","Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.","[601186, 615524]",,,,,Microphthalmia syndromic 9,TRUE,FALSE,Active +GARD:7130,Legacy,GARD,,,,,,,,,,,,Myelitis,TRUE,FALSE,Active +GARD:7132,Active,Orphanet,ORPHA:52688,Group of disorders,[Clinical group],Myelodysplastic syndrome,,,[614286],,,,,Myelodysplastic syndromes,TRUE,FALSE,Active +GARD:7137,Legacy,GARD,,,,,,,,,,,,Myocarditis,TRUE,FALSE,Active +GARD:7139,Active,Orphanet,ORPHA:36899,Disorder,[Disease],Myoclonus-dystonia syndrome,"[Alcohol-responsive dystonia, Hereditary essential myoclonus, Myoclonic dystonia]",Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.,"[616398, 159900]",,,,,Myoclonus-dystonia,TRUE,FALSE,Active +GARD:714,Legacy,GARD,,,,,,,,,,,,Anophthalmia cleft lip palate hypothalamic disorder,TRUE,FALSE,Retired +GARD:7140,Active,Orphanet,ORPHA:98261,Group of disorders,[Clinical group],Progressive myoclonic epilepsy,"[PME, Progressive myoclonus epilepsy]",,,,,,,Progressive myoclonic epilepsy,TRUE,FALSE,Active +GARD:7142,Legacy,GARD,,,,,,,,,,,,Myoclonus epilepsy,TRUE,FALSE,Active +GARD:7143,Legacy,GARD,,,,,,,,,,,,Myoclonus epilepsy partial seizure,TRUE,FALSE,Active +GARD:7144,Active,Orphanet,ORPHA:551,Disorder,[Disease],MERRF,"[Fukuhara syndrome, Myoclonus epilepsy associated with ragged-red fibres]",MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.,[545000],,,,,Myoclonic epilepsy with ragged red fibers,TRUE,FALSE,Active +GARD:7145,Legacy,GARD,,,,,,,,,,,,Myofibrillar lysis,TRUE,FALSE,Retired +GARD:7146,Active,Orphanet,ORPHA:178342,Disorder,[Disease],Inflammatory myofibroblastic tumor,,"Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.",,,,,,Inflammatory myofibroblastic tumor,TRUE,FALSE,Active +GARD:7148,Active,Orphanet,ORPHA:53698,Disorder,[Disease],Hyaline body myopathy,,,"[255160, 608358]",,,,,Myosin storage myopathy,TRUE,FALSE,Active +GARD:715,Legacy,GARD,,,,,,,,,,,,Anophthalmia cleft palate micrognathia,TRUE,FALSE,Active +GARD:7153,Legacy,GARD,,,,,,,,,,,,Myotonia atrophica,TRUE,FALSE,Retired +GARD:7157,Active,Orphanet,ORPHA:99967,Subtype of disorder,[Histopathological subtype],Myxoid/round cell liposarcoma,[MRCLS],"Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS; see this term) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.",[613488],,,,,Myxoid liposarcoma,TRUE,FALSE,Active +GARD:7158,Active,Orphanet,ORPHA:927,Disorder,[Disease],Hyperammonemia due to N-acetylglutamate synthase deficiency,[NAGS deficiency],"A rare disorder of urea cycle metabolism causing a deficit of ammonia detoxification and arginine synthesis, and characterized by hyperammonemia of variable severity. Manifestations range from neonatal presentation of poor feeding, vomiting, lethargy, tachypnea, convulsions and coma to adult-onset headaches, hazy gastrointestinal symptoms, seizures, behavioral/psychiatric problems, confusion and lethargy.",[237310],,,,,N-acetylglutamate synthase deficiency,TRUE,FALSE,Active +GARD:716,Legacy,GARD,,,,,,,,,,,,Anophthalmia esophageal atresia cryptorchidism,TRUE,FALSE,Active +GARD:7160,Active,Orphanet,ORPHA:2614,Disorder,[Malformation syndrome],Nail-patella syndrome,"[Onychoosteodysplasia, Turner-Kieser syndrome]","A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.",[161200],,,,,Nail-patella syndrome,TRUE,FALSE,Active +GARD:7161,Active,Orphanet,ORPHA:627,Disorder,[Malformation syndrome],Nance-Horan syndrome,,"Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.",[302350],,,,,Nance-Horan syndrome,TRUE,FALSE,Active +GARD:7162,Active,Orphanet,ORPHA:2073,Disorder,[Disease],Narcolepsy type 1,"[Gélineau disease, Narcolepsy-cataplexy]","A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions).","[612417, 161400, 609039, 605841, 612851, 614223, 614250]",,,,,Narcolepsy,TRUE,FALSE,Active +GARD:7163,Active,Orphanet,ORPHA:150,Disorder,[Disease],Nasopharyngeal carcinoma,[Squamous cell carcinoma of the nasopharynx],Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx.,"[607107, 617075, 161550]",,,,,Nasopharyngeal carcinoma,TRUE,FALSE,Active +GARD:7166,Active,Orphanet,ORPHA:377,Disorder,[Malformation syndrome],Gorlin syndrome,"[Basal cell nevus syndrome, Gorlin-Goltz syndrome, NBCCS, Nevoid basal cell carcinoma syndrome]","A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.",[109400],,,,,Nevoid basal cell carcinoma syndrome,TRUE,FALSE,Active +GARD:7169,Legacy,GARD,,,,,,,,,,,,Neisseria meningitidis infection,TRUE,FALSE,Active +GARD:717,Active,Orphanet,ORPHA:1101,Disorder,[Malformation syndrome],Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome,[Cassia Stocco dos Santos syndrome],"A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.",,,,,,Anophthalmia megalocornea cardiopathy skeletal anomalies,TRUE,FALSE,Active +GARD:7170,Active,Orphanet,ORPHA:199244,Disorder,[Clinical syndrome],Nelson syndrome,,"A rare, acquired, endocrine disease characterized by the triad of diffuse skin and mucosa hyperpigmentation, markedly elevated serum adrenocorticotropin (ACTH) levels and an enlarging corticotroph adenoma, which manifest following total bilateral adrenalectomy performed for the treatment of Cushing's disease. Additionally, patients may present with headaches, visual field defects, cranial nerve palsy, pituitary apoplexy, diabetes insipidus, panhypopituitarism, and, occasionally, paraovarian or paratesticular tumors.",,,,,,Nelson syndrome,TRUE,FALSE,Active +GARD:7171,Active,Orphanet,ORPHA:171439,Disorder,[Disease],Childhood-onset nemaline myopathy,[Mild nemaline myopathy],"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.","[615731, 609284, 609285, 161800, 617336, 256030, 609273]",,,,,Childhood-onset nemaline myopathy,TRUE,FALSE,Active +GARD:7172,Active,Orphanet,ORPHA:446,Disorder,[Disease],Neonatal hemochromatosis,,Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin.,[231100],,,,,Neonatal hemochromatosis,TRUE,FALSE,Active +GARD:7173,Legacy,GARD,,,,,,,,,,,,Neonatal herpes,TRUE,FALSE,Active +GARD:7177,Legacy,GARD,,,,,,,,,,,,Nephrocalcinosis,TRUE,FALSE,Active +GARD:7178,Active,Orphanet,ORPHA:223,Disorder,[Disease],Nephrogenic diabetes insipidus,,"A rare, genetic renal tubular disease that is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae.","[125800, 304800]",,,,,Nephrogenic diabetes insipidus,TRUE,FALSE,Active +GARD:7179,Legacy,GARD,,,,,,,,,,,,Nephrosclerosis,TRUE,FALSE,Active +GARD:718,Legacy,GARD,,,,,,,,,,,,Anophthalmia microcephaly hypogonadism,TRUE,FALSE,Retired +GARD:7180,Active,Orphanet,ORPHA:252131,Group of disorders,[Category],Benign peripheral nerve sheath tumor,[BPNST],,,,,,,Benign peripheral nerve sheath tumor,FALSE,FALSE,Draft +GARD:7182,Active,Orphanet,ORPHA:634,Disorder,[Disease],Netherton syndrome,"[Bamboo hair syndrome, Comèl-Netherton syndrome, NS]","Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.",[256500],,,,,Netherton syndrome,TRUE,FALSE,Active +GARD:7183,Active,Orphanet,ORPHA:87876,Disorder,[Disease],Sialidosis type 2,[Infantile dysmorphic sialidosis],"Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.","[256550, 256150]",,,,,"Sialidosis, type II",TRUE,FALSE,Active +GARD:7185,Active,Orphanet,ORPHA:635,Disorder,[Disease],Neuroblastoma,,"Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.","[613016, 613013, 256700, 613017, 616792, 613014, 613015]",,,,,Neuroblastoma,TRUE,FALSE,Active +GARD:7186,Active,Orphanet,ORPHA:2481,Disorder,[Disease],Neurocutaneous melanocytosis,"[NCM, Neurocutaneous melanosis]","Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.",[249400],,,,,Neurocutaneous melanosis,TRUE,FALSE,Active +GARD:7189,Legacy,GARD,,,,,,,,,,,,Neuroendocrine carcinoma of the cervix,TRUE,FALSE,Active +GARD:719,Active,Orphanet,ORPHA:1104,Disorder,[Malformation syndrome],Anophthalmia plus syndrome,"[Fryns microphthalmia syndrome, Microphthalmia with facial clefting]","A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.",[600776],,,,,Anophthalmia plus syndrome,TRUE,FALSE,Active +GARD:7190,Active,Orphanet+OMIM,OMIM:604154,Subtype of disorder,[Disease subtype],Alzheimer disease 15,[Alzheimer disease without neurofibrillary tangles],"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}.",[604154],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,Alzheimer's disease without neurofibrillary tangles,TRUE,FALSE,Active +GARD:7191,Active,Orphanet,ORPHA:252183,Disorder,[Disease],Neurofibroma,,"A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves.",,,,,,Neurofibroma,TRUE,FALSE,Active +GARD:7193,Active,Orphanet,ORPHA:637,Disorder,[Disease],Neurofibromatosis type 2,[NF2],Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.,[101000],,,,,Neurofibromatosis type 2,TRUE,FALSE,Active +GARD:7194,Legacy,GARD,,,,,,,,,,,,Neurogenic hypertension,TRUE,FALSE,Retired +GARD:7195,Active,Orphanet,ORPHA:94093,Disorder,[Disease],Neuroleptic malignant syndrome,,"A rare neuropsychiatric syndrome associated with administration of antipsychotic or other central dopamine (D2) receptor antagonists, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.",,,,,,Neuroleptic malignant syndrome,TRUE,FALSE,Active +GARD:7196,Legacy,GARD,,,,,,,,,,,,Neuroma biliary tract,TRUE,FALSE,Active +GARD:7198,Legacy,GARD,,,,,,,,,,,,Neuronal interstitial dysplasia,TRUE,FALSE,Active +GARD:7199,Legacy,GARD,,,,,,,,,,,,Neurotoxicity syndromes,TRUE,FALSE,Active +GARD:72,Legacy,GARD,,,,,,,,,,,,Human monocytic ehrlichiosis,TRUE,FALSE,Active +GARD:7201,Active,Orphanet,ORPHA:83471,Disorder,[Disease],Thymic aplasia,[Nezelof syndrome],"A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.",[242700],,,,,Immune defect due to absence of thymus,TRUE,FALSE,Active +GARD:7206,Active,Orphanet,ORPHA:77292,Disorder,[Disease],Infantile neurovisceral acid sphingomyelinase deficiency,"[Infantile neurovisceral ASMD, NPD-A, Niemann-Pick disease type A]","A rare, autosomal recessive, acid sphingomyelinase deficiency characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, interstitial lung disease and rapidly progressive neurodegenerative disorders.",[257200],,,,,Niemann-Pick disease type A,TRUE,FALSE,Active +GARD:7207,Active,Orphanet,ORPHA:646,Disorder,[Disease],Niemann-Pick disease type C,,"A rare lysosomal lipid storage disease characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.","[257220, 607625]",,,,,Niemann-Pick disease type C1,TRUE,FALSE,Active +GARD:7208,Legacy,GARD,,,,,,,,,,,,Niemann-Pick disease type D,TRUE,FALSE,Retired +GARD:7210,Active,Orphanet,ORPHA:31204,Disorder,[Disease],Nocardiosis,,"Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.",,,,,,Nocardiosis,TRUE,FALSE,Active +GARD:7216,Legacy,GARD,,,,,,,,,,,,Non-lissencephalic cortical dysplasia,TRUE,FALSE,Active +GARD:7219,Active,Orphanet,ORPHA:407,Disorder,[Disease],Glycine encephalopathy,"[NKA, Non-ketotic hyperglycinemia]","Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.",[605899],,,,,Glycine encephalopathy,TRUE,FALSE,Active +GARD:722,Active,Orphanet,ORPHA:1106,Disorder,[Malformation syndrome],Microphthalmia with limb anomalies,"[Anophthalmia-syndactyly syndrome, OAS, Ophthalmoacromelic syndrome, Waardenburg anophthalmia syndrome]","A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.",[206920],,,,,Anophthalmos with limb anomalies,TRUE,FALSE,Active +GARD:7220,Active,Orphanet,ORPHA:79452,Disorder,[Disease],Milroy disease,"[Hereditary lymphedema type I, Nonne-Milroy lymphedema]","Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.","[613480, 153100, 615907, 611944]",,,,,Milroy disease,TRUE,FALSE,Active +GARD:7222,Legacy,GARD,,,,,,,,,,,,Nonsyndromic hereditary sensorineural hearing loss,TRUE,FALSE,Active +GARD:7223,Active,Orphanet+OMIM,OMIM:163950,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 1,"[female pseudo-turner syndrome, Noonan syndrome, turner phenotype with normal karyotype, male turner syndrome]","Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by {102:Tartaglia et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Noonan Syndrome\n\nSee also NS3 ({609942}), caused by mutation in the KRAS gene ({190070}); NS4 ({610733}), caused by mutation in the SOS1 gene ({182530}); NS5 ({611553}), caused by mutation in the RAF1 gene ({164760}); NS6 ({613224}), caused by mutation in the NRAS gene ({164790}); NS7 ({613706}), caused by mutation in the BRAF gene ({164757}); NS8 ({615355}), caused by mutation in the RIT1 gene ({609591}); NS9 ({616559}), caused by mutation in the SOS2 gene ({601247}); NS10 ({616564}), caused by mutation in the LZTR1 gene ({600574}); NS11 ({618499}), caused by mutation in the MRAS gene ({608435}); NS12 ({618624}), caused by mutation in the RRAS2 gene ({600098}); and NS13 ({619087}), caused by mutation in the MAPK1 gene ({176948}).\n\nAutosomal recessive forms of Noonan syndrome include NS2 ({605275}), caused by mutation in the LZTR1 gene ({600574}), and NS14 ({619745}), caused by mutation in the SPRED2 gene ({609292}).\n\nSee also Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1; {607721}), caused by mutation in the SHOC2 gene ({602775}); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2; {617506}), caused by mutation in the PPP1CB gene ({600590}); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL; {613563}), caused by mutation in the CBL gene ({165360}).\n\nMutations in the neurofibromin gene (NF1; {613113}), which is the site of mutations causing classic neurofibromatosis type I (NF1; {162200}), have been found in neurofibromatosis-Noonan syndrome (NFNS; {601321}).",[163950],[648],[Noonan syndrome],[10955],,Noonan syndrome 1,TRUE,FALSE,Active +GARD:7224,Active,Orphanet,ORPHA:649,Disorder,[Malformation syndrome],Norrie disease,"[Atrophia bulborum hereditaria, Episkopi blindness, Norrie-Warburg disease]","A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.",[310600],,,,,Norrie disease,TRUE,FALSE,Active +GARD:7225,Legacy,GARD,,,,,,,,,,,,Notalgia paresthetica,FALSE,FALSE,Active +GARD:7226,Active,Orphanet,ORPHA:510,Disorder,[Disease],Lesch-Nyhan syndrome,"[HPRT complete deficiency, HPRT deficiency grade IV, Hypoxanthine guanine phosphoribosyltransferase complete deficiency, Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV]","Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.","[300322, 308950]",,,,,Lesch Nyhan syndrome,TRUE,FALSE,Active +GARD:7229,Legacy,GARD,,,,,,,,,,,,Familial hypertrophic cardiomyopathy,TRUE,FALSE,Active +GARD:7231,Legacy,GARD,,,,,,,,,,,,Ochronosis,TRUE,FALSE,Active +GARD:7236,Legacy,GARD,,,,,,,,,,,,Ocular melanoma,TRUE,FALSE,Active +GARD:7237,Legacy,GARD,,,,,,,,,,,,Ocular motility disorders,TRUE,FALSE,Retired +GARD:7238,Legacy,GARD,,,,,,,,,,,,Ocular toxoplasmosis,TRUE,FALSE,Active +GARD:7239,Active,Orphanet,ORPHA:2710,Disorder,[Malformation syndrome],Oculodentodigital dysplasia,"[Meyer-Schwickerath syndrome, ODDD syndrome, Oculodentoosseous dysplasia]","A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms.","[257850, 164200]",,,,,Oculodentodigital dysplasia,TRUE,FALSE,Active +GARD:7245,Active,Orphanet,ORPHA:270,Disorder,[Disease],Oculopharyngeal muscular dystrophy,[OPMD],"A rare, adult-onset, progressive myopathy characterized by progressive eyelid ptosis, ophthalmoplegia, dysphagia, dysarthria and proximal limb weakness.",[164300],,,,,Oculopharyngeal muscular dystrophy,TRUE,FALSE,Active +GARD:7247,Legacy,GARD,,,,,,,,,,,,Odontoma,TRUE,FALSE,Active +GARD:7248,Legacy,GARD,,,,,,,,,,,,Ogilvie syndrome,TRUE,FALSE,Active +GARD:725,Legacy,GARD,,,,,,,,,,,,Anotia facial palsy cardiac defect,TRUE,FALSE,Active +GARD:7250,Legacy,GARD,,,,,,,,,,,,Olivopontocerebellar atrophy,TRUE,FALSE,Active +GARD:7251,Active,Orphanet,ORPHA:296,Disorder,[Disease],Ollier disease,[Dyschondroplasia],A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.,[166000],,,,,Ollier disease,TRUE,FALSE,Active +GARD:7252,Active,Orphanet,ORPHA:2737,Disorder,[Disease],Onchocerciasis,,"A form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.",,,,,,Onchocerciasis,TRUE,FALSE,Active +GARD:7260,Legacy,GARD,,,,,,,,,,,,Oral leukoplakia,TRUE,FALSE,Active +GARD:7261,Legacy,GARD,,,,,,,,,,,,Oral lichen planus,FALSE,FALSE,Active +GARD:7263,Legacy,GARD,,,,,,,,,,,,Oral squamous cell carcinoma,TRUE,FALSE,Active +GARD:7264,Active,Orphanet,ORPHA:357154,Disorder,[Disease],Oral submucous fibrosis,[OSMF],"Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.",,,,,,Oral submucous fibrosis,TRUE,FALSE,Active +GARD:7266,Legacy,GARD,,,,,,,,,,,,Oral pharyngeal disorders,TRUE,FALSE,Retired +GARD:7269,Active,Orphanet,ORPHA:147,Disorder,[Disease],Carbamoyl-phosphate synthetase 1 deficiency,"[CPS1 deficiency, CPS1D, Carbamoyl-phosphate synthetase I deficiency, Carbamoyl-phosphate synthetase deficiency]","A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.",[237300],,,,,Carbamoyl phosphate synthetase 1 deficiency,TRUE,FALSE,Active +GARD:7272,Legacy,GARD,,,,,,,,,,,,Ornithinemia,TRUE,FALSE,Active +GARD:728,Legacy,GARD,,,,,,,,,,,,"Anterior pituitary insufficiency, familial",TRUE,FALSE,Retired +GARD:7281,Legacy,GARD,,,,,,,,,,,,Osteochondroma,TRUE,FALSE,Active +GARD:7284,Active,Orphanet,ORPHA:668,Disorder,[Disease],Osteosarcoma,[Osteogenic sarcoma],Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.,[259500],,,,,Osteosarcoma,TRUE,FALSE,Active +GARD:7285,Legacy,GARD,,,,,,,,,,,,Osteomalacia,TRUE,FALSE,Active +GARD:7286,Legacy,GARD,,,,,,,,,,,,Osteomyelitis,TRUE,FALSE,Active +GARD:7293,Legacy,GARD,,,,,,,,,,,,Oto-Palatal-digital syndrome,TRUE,FALSE,Active +GARD:7295,Active,Orphanet,ORPHA:213500,Group of disorders,[Category],Ovarian cancer,[Ovarian malignant tumor],,,,,,,Ovarian cancer,TRUE,FALSE,Active +GARD:7296,Active,Orphanet,ORPHA:213512,Disorder,[Disease],Malignant mixed Müllerian tumor of the ovary,"[MMMT of the ovary, Ovarian carcinosarcoma, Ovarian malignant mixed Müllerian tumor, Ovarian malignant mixed epithelial mesenchymal tumor]","Malignant mixed Müllerian tumor of the ovary is a rare and very aggressive neoplasm presenting most commonly in postmenopausal women and is composed of adenocarcinomatous and sarcomatous elements and, depending on the types of these elements, can be classified as homologous or heterologous. It often has a poor prognosis.",,,,,,Ovarian carcinosarcoma,TRUE,FALSE,Active +GARD:7297,Legacy,GARD,,,,,,,,,,,,Ovarian remnant syndrome,TRUE,FALSE,Active +GARD:7299,Active,Orphanet,ORPHA:2796,Disorder,[Malformation syndrome],Pachydermoperiostosis,"[PDP, Touraine-Solente-Gole syndrome]","Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.","[259100, 167100, 614441]",,,,,Pachydermoperiostosis,TRUE,FALSE,Active +GARD:73,Active,Orphanet,ORPHA:101088,Subtype of disorder,[Clinical subtype],X-linked hyper-IgM syndrome,"[HIGM1, Hyper-IgM syndrome due to CD40 ligand deficiency, Hyper-IgM syndrome due to CD40L deficiency, Hyper-IgM syndrome type 1, XHIGM]",,[308230],,,,,Immunodeficiency with hyper IgM type 1,TRUE,FALSE,Active +GARD:730,Active,Orphanet,ORPHA:2194,Disorder,[Disease],Anti-HLA hyperimmunization,,An increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.,,,,,,Anti-HLA hyperimmunization,TRUE,FALSE,Active +GARD:7300,Legacy,GARD,,,,,,,,,,,,Pachygyria,TRUE,FALSE,Active +GARD:7303,Active,Orphanet,ORPHA:180275,Disorder,[Disease],Paget disease of the nipple,"[Mammary Paget disease, Paget disease of the breast, Paget's disease of the nipple]","Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.",,,,,,Paget disease of the breast,TRUE,FALSE,Active +GARD:7304,Legacy,GARD,,,,,,,,,,,,Palindromic rheumatism,TRUE,FALSE,Active +GARD:7305,Active,Orphanet,ORPHA:672,Disorder,[Malformation syndrome],Pallister-Hall syndrome,[Hypothalamic hamartoblastoma syndrome],"Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.",[146510],,,,,Pallister-Hall syndrome,TRUE,FALSE,Active +GARD:7308,Legacy,GARD,,,,,,,,,,,,"Pancreatic cancer, childhood",TRUE,FALSE,Retired +GARD:731,Active,Orphanet,ORPHA:79,Disorder,[Disease],Congenital alpha2-antiplasmin deficiency,,"A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones).",[262850],,,,,"Anti-plasmin deficiency, congenital",TRUE,FALSE,Active +GARD:7311,Legacy,GARD,,,,,,,,,,,,Pancreatic islet cell tumors,TRUE,FALSE,Draft +GARD:7312,Active,Orphanet,ORPHA:66624,Disorder,[Disease],PANDAS,"[Pediatric autoimmune disorders associated with Streptococcus infections, Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections]",PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.,,,,,,Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections,TRUE,FALSE,Active +GARD:7313,Legacy,GARD,,,,,,,,,,,,Mesomelic dwarfism of hypoplastic tibia and radius type,TRUE,FALSE,Active +GARD:7318,Legacy,GARD,,,,,,,,,,,,Papilledema,TRUE,FALSE,Active +GARD:732,Legacy,GARD,,,,,,,,,,,,Antigen-peptide-transporter 2 deficiency,TRUE,FALSE,Active +GARD:7320,Legacy,GARD,,,,,,,,,,,,Optic neuritis,TRUE,FALSE,Active +GARD:7321,Active,Orphanet,ORPHA:86795,Group of disorders,[Clinical group],Localized lichen myxedematosus,[Papular mucinosis],"A group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.",,,,,,Papular mucinosis,TRUE,FALSE,Active +GARD:7322,Legacy,GARD,,,,,,,,,,,,Papular urticaria,TRUE,FALSE,Active +GARD:7323,Active,Orphanet,ORPHA:73260,Disorder,[Disease],Paracoccidioidomycosis,,"A rare mycosis characterized by an acute form mostly occurring in children and young adults presenting with fever, weight loss, lymph node enlargement, hepatosplenomegaly, and bone marrow dysfunction, versus a chronic form which usually involves the lungs and mucosae of the upper respiratory tract, skin, lymph nodes, and adrenal glands, but may affect any part of the body. The most common sequelae are chronic respiratory insufficiency and Addison's disease. The infectious agent, Paracoccidioides brasiliensis, is a fungus limited to Latin America.",,,,,,Paracoccidioidomycosis,TRUE,FALSE,Active +GARD:7324,Active,Orphanet+OMIM,OMIM:168000,Subtype of disorder,[Disease subtype],Paragangliomas 1,"[glomus jugulare tumors, paraganglioma, carotid body, chemodectomas, paragangliomata, paragangliomas, familial nonchromaffin, 1, Paragangliomas, familial, 1, glomus tumors, familial, 1, carotid body tumors]","Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors ({8:Baysal, 2002}; {42:Neumann et al., 2004}).\n\nThe triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad ({604287}). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy ({160980}).\n\n{9:Baysal (2008)} provided a review of the molecular pathogenesis of hereditary paraganglioma.\n\n<Subhead> Genetic Heterogeneity of Paragangliomas\n\nSee also PGL4 ({115310}), caused by mutation in the SDHB gene ({185470}) on chromosome 1p36; PGL3 ({605373}), caused by mutation in the SDHC gene ({602413}) on chromosome 1q21; PGL2 ({601650}), caused by mutation in the SDHAF2 gene ({613019}) on chromosome 11q13; PGL5 ({614165}), caused by mutation in the SDHA gene ({600857}) on chromosome 5p15; PGL6 ({618464}), caused by mutation in the SLC25A11 gene ({604165}) on chromosome 17p13; and PGL7 ({618475}), caused by mutation in the DLST gene ({126063}) on chromosome 14q24.",[168000],[29072],[Hereditary pheochromocytoma-paraganglioma],[11984],,Paragangliomas 1,TRUE,FALSE,Active +GARD:7325,Active,Orphanet,ORPHA:684,Disorder,[Disease],Paramyotonia congenita of Von Eulenburg,[Paramyotonia congenita],Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness.,[168300],,,,,Paramyotonia congenita,TRUE,FALSE,Active +GARD:7326,Active,Orphanet,ORPHA:36388,Group of disorders,[Category],Paraneoplastic neurologic syndrome,[PNS],"Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions.",,,,,,Paraneoplastic cerebellar degeneration,TRUE,FALSE,Active +GARD:7327,Legacy,GARD,,,,,,,,,,,,Paraplegia,TRUE,FALSE,Active +GARD:7328,Legacy,GARD,,,,,,,,,,,,Parapsoriasis,TRUE,FALSE,Active +GARD:7329,Active,Orphanet,ORPHA:143,Disorder,[Disease],Parathyroid carcinoma,,"A rare endocrine tumor characterized by a malignant neoplasm derived from parathyroid parenchymal cells, localized in one of the normally located parathyroid glands or other sites where parathyroid tissue may be present. Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease.",[608266],,,,,Parathyroid carcinoma,TRUE,FALSE,Active +GARD:733,Legacy,GARD,,,,,,,,,,,,Antihypertensive drugs antenatal exposure,TRUE,FALSE,Retired +GARD:7331,Legacy,GARD,,,,,,,,,,,,Parenchymatous cortical degeneration of cerebellum,FALSE,FALSE,Draft +GARD:7335,Active,Orphanet,ORPHA:90035,Disorder,[Disease],Paroxysmal cold hemoglobinuria,"[Donath-Landsteiner hemolytic anemia, Donath-Landsteiner syndrome, PCH]","Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.",,,,,,Paroxysmal cold hemoglobinuria,TRUE,FALSE,Active +GARD:7337,Active,Orphanet,ORPHA:447,Disorder,[Disease],Paroxysmal nocturnal hemoglobinuria,"[Marchiafava-Micheli disease, PNH]","Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.","[300818, 615399]",,,,,Paroxysmal nocturnal hemoglobinuria,TRUE,FALSE,Active +GARD:7338,Active,Orphanet,ORPHA:1214,Disorder,[Disease],Progressive hemifacial atrophy,"[Hemifacial atrophy, PHA, Parry-Romberg syndrome, Progressive facial hemiatrophy, Romberg syndrome]","Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.",[141300],,,,,Progressive hemifacial atrophy,TRUE,FALSE,Active +GARD:7339,Legacy,GARD,,,,,,,,,,,,Pars planitis,TRUE,FALSE,Active +GARD:7341,Active,Orphanet,ORPHA:3378,Disorder,[Malformation syndrome],Trisomy 13,[Patau syndrome],"Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.",,,,,,Trisomy 13,TRUE,FALSE,Active +GARD:7342,Active,Orphanet+OMIM,OMIM:607411,Subtype of disorder,[Morphological anomaly subtype],Patent ductus arteriosus 1,,"Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. ({4:Mitchell et al., 1971}). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis ({7:Ramsay et al., 1987}). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases ({6:Polani and Campbell, 1960}; {2:Lamy et al., 1957}), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor ({5:Nguyen et al., 1997}) and by rare syndromic forms of PDA such as Char syndrome ({169100}), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B ({601601}) ({3:Mani et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Patent Ductus Arteriosus\n\nAutosomal dominant forms of patent ductus arteriosus include PDA2 ({617035}), caused by mutation in the TFAP2B gene ({601601}) on chromosome 6p12, and PDA3 ({617039}), caused by mutation in the PRDM6 gene ({616982}) on chromosome 5q23.\n\n{1:Hajj and Dagle (2012)} reviewed the genetics of patent ductus arteriosus in both term and preterm infants, and discussed possible environmental risk factors as well as animal models of PDA.",[607411],[466729],[Familial patent arterial duct],[17828],,Patent ductus arteriosus,TRUE,FALSE,Active +GARD:7343,Active,Orphanet,ORPHA:699,Disorder,[Disease],Pearson syndrome,,"Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.",[557000],,,,,Pearson syndrome,TRUE,FALSE,Active +GARD:7346,Legacy,GARD,,,,,,,,,,,,Pediatric T-cell leukemia,TRUE,FALSE,Active +GARD:7347,Active,Orphanet,ORPHA:817,Group of disorders,[Clinical group],Peeling skin syndrome,"[Deciduous skin, Familial continuous skin peeling syndrome, Idiopathic deciduous skin, Keratosis exfoliativa congenita, PSS, Peeling skin disease]","Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.",,,,,,Peeling skin syndrome,TRUE,FALSE,Active +GARD:7348,Legacy,GARD,,,,,,,,,,,,Cerebral sclerosis similar to Pelizaeus-Merzbacher disease,TRUE,FALSE,Active +GARD:735,Active,Orphanet,ORPHA:81,Disorder,[Disease],Antisynthetase syndrome,"[AS syndrome, Anti-Jo1 syndrome]","A rare idiopathic inflammatory myopathy (IIM) characterized principally by myositis, generally symmetrical arthritis and interstitial lung disease (ILD) in association with serum autoantibodies to aminoacyl-transfer RNA synthetases (anti-ARS). More variable features include arthralgia, Raynaud phenomenon, heliotrophic rash, distal esophageal dysmotility and mechanic's hands.",,,,,,Antisynthetase syndrome,TRUE,FALSE,Active +GARD:7350,Legacy,GARD,,,,,,,,,,,,Pelvic lipomatosis,TRUE,FALSE,Active +GARD:7352,Legacy,GARD,,,,,,,,,,,,Pemphigus,TRUE,FALSE,Active +GARD:7353,Legacy,GARD,,,,,,,,,,,,Pemphigus and fogo selvagem,TRUE,FALSE,Active +GARD:7354,Active,Orphanet,ORPHA:79481,Disorder,[Disease],Pemphigus foliaceus,,"A rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.",,,,,,Pemphigus foliaceus,TRUE,FALSE,Active +GARD:7355,Active,Orphanet,ORPHA:704,Disorder,[Disease],Pemphigus vulgaris,,"A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected.",[169610],,,,,Pemphigus vulgaris,TRUE,FALSE,Active +GARD:7359,Active,Orphanet,ORPHA:1335,Disorder,[Malformation syndrome],Pentalogy of Cantrell,"[Cantrell deformity, Cantrell syndrome, Thoraco-abdominal syndrome]","Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.",[313850],,,,,Pentalogy of Cantrell,TRUE,FALSE,Active +GARD:736,Legacy,GARD,,,,,,,,,,,,Hereditary antithrombin deficiency type I,TRUE,FALSE,Active +GARD:7360,Active,Orphanet,ORPHA:767,Disorder,[Disease],Polyarteritis nodosa,"[Küssmaul-Maier disease, PAN, Periarteritis nodosa]","A rare, clinically heterogeneous, systemic disease characterized by necrotizing inflammatory lesions affecting medium-sized blood vessels. It most commonly affects skin, joints, peripheral nerves and the gastrointestinal tract.",,,,,,Polyarteritis nodosa,TRUE,FALSE,Active +GARD:7361,Legacy,GARD,,,,,,,,,,,,Perilymphatic fistula,TRUE,FALSE,Active +GARD:7362,Legacy,GARD,,,,,,,,,,,,Perimyositis,TRUE,FALSE,Retired +GARD:7366,Legacy,GARD,,,,,,,,,,,,Supratentorial primitive neuroectodermal tumor,TRUE,FALSE,Active +GARD:7368,Legacy,GARD,,,,,,,,,,,,Peripheral T-cell lymphoma,TRUE,FALSE,Active +GARD:7371,Active,Orphanet+OMIM,OMIM:300049,Subtype of disorder,[Clinical subtype],Periventricular nodular heterotopia 1,"[periventricular nodular heterotopia 4, formerly, heterotopia, familial nodular, nodular heterotopia, bilateral periventricular, heterotopia, periventricular, ehlers-danlos variant, Heterotopia, periventricular, x-linked dominant]","Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles. Most affected individuals with the X-linked form are female, while hemizygous males tend to die in utero. Affected females usually present with epilepsy, but have normal intelligence. Additional features include defects of the cardiovascular system, such as patent ductus arteriosus, bicuspid aortic valve, and dilation of the sinuses of Valsalva or the thoracic aorta (summary by {5:Fox et al., 1998}). Several patients with PVNH and mutations in the FLNA gene have been reported with a spectrum of connective tissue abnormalities characterized by combinations of vascular, cardiac, cutaneous, and joint-related symptoms (summary by {22:Reinstein et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Periventricular Nodular Heterotopia\n\nPeriventricular nodular heterotopia is a genetically heterogeneous condition: see also PVNH2 ({608097}), caused by mutation in the ARFGEF2 gene ({605371}) on chromosome 20q13; PVNH3 ({608098}), associated with anomalies of 5p; PVNH5 ({612881}), associated with deletions of chromosome 5q; PVNH6 ({615544}), caused by mutation in the ERMARD gene ({615532}) on chromosome 6q27; PVNH7 ({617201}), caused by mutation in the NEDD4L gene ({606384}) on chromosome 18q21; PVNH8 ({618185}), caused by mutation in the ARF1 gene ({103180}) on chromosome 1q42; and PVNH9 ({618918}), caused by mutation in the MAP1B gene ({157129}) on chromosome 5q13.\n\nThe form of PVNH that was previously designated the Ehlers-Danlos variant (PVNH4) is now considered to be the same as X-linked PVNH1.",[300049],[98892],[Periventricular nodular heterotopia],[12724],,X-linked periventricular heterotopia,TRUE,FALSE,Active +GARD:7373,Legacy,GARD,,,,,,,,,,,,Perniosis,TRUE,FALSE,Active +GARD:7375,Legacy,GARD,,,,,,,,,,,,Persistent truncus arteriosus,TRUE,FALSE,Active +GARD:7377,Active,Orphanet,ORPHA:708,Disorder,[Morphological anomaly],Peters anomaly,[Peters congenital glaucoma],Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.,"[604229, 612968]",,,,,Peters anomaly,TRUE,FALSE,Active +GARD:7378,Active,Orphanet,ORPHA:2869,Disorder,[Disease],Peutz-Jeghers syndrome,"[Hamartomatous intestinal polyposis, PJS]","A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.",[175200],,,,,Peutz-Jeghers syndrome,TRUE,FALSE,Active +GARD:7379,Legacy,GARD,,,,,,,,,,,,Peyronie disease,FALSE,FALSE,Retired +GARD:738,Active,Orphanet,ORPHA:2037,Disorder,[Morphological anomaly],Congenital aortopulmonary window,"[Congenital aortopulmonary artery fistula, Congenital aortopulmonary septal defect]","A rare congenital non-syndromic heart malformation characterized by a communication between the ascending aorta and the pulmonary trunk in the presence of two normally formed semilunar valves. It may be an isolated finding or occur in association with other anomalies. Severe clinical manifestations, such as congestive heart failure or pulmonary hypertension, typically develop in early life.",,,,,,Aorta-pulmonary artery fistula,TRUE,FALSE,Active +GARD:7380,Active,Orphanet,ORPHA:710,Disorder,[Malformation syndrome],Pfeiffer syndrome,"[ACS5, Acrocephalosyndactyly type 5]","An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.",[101600],,,,,Pfeiffer syndrome,TRUE,FALSE,Active +GARD:7381,Active,Orphanet,ORPHA:526,Disorder,[Disease],Liddle syndrome,"[Pseudoaldosteronism, Pseudohyperaldosteronism type 1]",A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.,"[177200, 618114, 618126]",,,,,Liddle syndrome,TRUE,FALSE,Active +GARD:7383,Active,Orphanet,ORPHA:716,Disorder,[Disease],Phenylketonuria,"[PAH deficiency, PKU, Phenylalanine hydroxylase deficiency]","A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability.",[261600],,,,,Phenylketonuria,TRUE,FALSE,Active +GARD:7385,Active,Orphanet,ORPHA:276621,Disorder,[Disease],Sporadic pheochromocytoma/secreting paraganglioma,,"A rare, isolated, non-familial pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from extra-adrenal chromaffin tissue (paraganglioma). The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.",,,,,,Pheochromocytoma,TRUE,FALSE,Active +GARD:7386,Legacy,GARD,,,,,,,,,,,,Philadelphia-negative chronic myeloid leukemia,TRUE,FALSE,Active +GARD:7387,Active,Orphanet,ORPHA:3103,Disorder,[Malformation syndrome],Roberts syndrome,"[Pseudothalidomide syndrome, Roberts-SC phocomelia syndrome, SC phocomelia, SC pseudothalidomide syndrome]","Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.",[268300],,,,,Roberts syndrome,TRUE,FALSE,Active +GARD:7389,Active,Orphanet,ORPHA:713,Disorder,[Disease],Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,"[GSD due to phosphoglycerate kinase 1 deficiency, Glycogenosis due to phosphoglycerate kinase 1 deficiency]","A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.",[300653],,,,,Phosphoglycerate kinase deficiency,TRUE,FALSE,Active +GARD:739,Active,Orphanet,ORPHA:1110,Disorder,[Malformation syndrome],Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,,"A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.",[107500],,,,,Aortic arch anomaly - peculiar facies - intellectual disability,TRUE,FALSE,Active +GARD:7392,Active,Orphanet,ORPHA:275864,Disorder,[Disease],Behavioral variant of frontotemporal dementia,[bv-FTD],"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.","[619132, 172700, 616437, 600274, 600795]",,,,,Behavioral variant of frontotemporal dementia,TRUE,FALSE,Active +GARD:7396,Active,Orphanet,ORPHA:66627,Disorder,[Disease],Tenosynovial giant cell tumor,"[Diffuse-type GCT, Diffuse-type giant cell tumor, Pigmented villonodular synovitis, TGCT, TSGCT]","A rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursa (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment.",,,,,,Pigmented villonodular synovitis,TRUE,FALSE,Active +GARD:7397,Legacy,GARD,,,,,,,,,,,,Pinta,TRUE,FALSE,Active +GARD:7399,Active,Orphanet,ORPHA:231662,Subtype of disorder,[Clinical subtype],Isolated growth hormone deficiency type IA,"[Congenital IGHD type IA, Congenital isolated GH deficiency type IA, Congenital isolated growth hormone deficiency type IA]",,"[618160, 262400]",,,,,Isolated growth hormone deficiency type 1A,TRUE,FALSE,Active +GARD:740,Active,Orphanet,ORPHA:2299,Disorder,[Morphological anomaly],Aortic arch interruption,,A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.,,,,,,Aortic arch interruption,TRUE,FALSE,Active +GARD:7400,Legacy,GARD,,,,,,,,,,,,Pityriasis lichenoides chronica,TRUE,FALSE,Active +GARD:7401,Active,Orphanet,ORPHA:2897,Disorder,[Disease],Pityriasis rubra pilaris,,"Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.",[173200],,,,,Pityriasis rubra pilaris,TRUE,FALSE,Active +GARD:7402,Legacy,GARD,,,,,,,,,,,,Placenta disorder,TRUE,FALSE,Active +GARD:7403,Active,Orphanet,ORPHA:99928,Disorder,[Disease],Placental site trophoblastic tumor,[PSST],"A rare gestational trophoblastic neoplasm characterized histologically by invasion of myometrium by intermediate trophoblastic cells without chorionic villi and containing human placental lactogen hormone (hPL). Tissue necrosis is usually absent and hemorrhage is mild. The tumor develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. Indicative signs are irregular metrorrhagia some time after spontaneous miscarriage or VTP, presence of metastasis or unexplained metrorrhagia in the weeks and months following normal childbirth or ectopic pregnancy.",,,,,,Trophoblastic tumor placental site,TRUE,FALSE,Active +GARD:7404,Legacy,GARD,,,,,,,,,,,,Anaplastic plasmacytoma,TRUE,FALSE,Active +GARD:7406,Legacy,GARD,,,,,,,,,,,,Plexosarcoma,TRUE,FALSE,Active +GARD:7409,Legacy,GARD,,,,,,,,,,,,Pneumocystis jirovecii pneumonia,TRUE,FALSE,Active +GARD:741,Active,Orphanet,ORPHA:1132,Group of disorders,[Category],Aortic arch defects,,,,,,,,Aortic arches defect,TRUE,FALSE,Active +GARD:7411,Active,Orphanet,ORPHA:2905,Disorder,[Disease],POEMS syndrome,"[Crow-Fukase syndrome, Osteosclerotic myeloma, PEP syndrome, Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome, Takatsuki syndrome]","POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.",,,,,,POEMS syndrome,TRUE,FALSE,Active +GARD:7412,Active,Orphanet,ORPHA:2911,Disorder,[Malformation syndrome],Poland syndrome,"[Poland anomaly, Poland sequence]","A rare congenital malformation characterized by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects.",[173800],,,,,Poland syndrome,TRUE,FALSE,Active +GARD:7413,Active,Orphanet,ORPHA:2912,Disorder,[Disease],Poliomyelitis,,"Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses.",,,,,,Poliomyelitis,TRUE,FALSE,Active +GARD:7414,Legacy,GARD,,,,,,,,,,,,Periarteritis nodosa,TRUE,FALSE,Retired +GARD:7415,Active,Orphanet,ORPHA:439729,Subtype of disorder,[Clinical subtype],Cutaneous polyarteritis nodosa,"[Cutaneous PAN, Cutaneous periarteritis nodosa]","Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN, see this term), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.",,,,,,Cutaneous polyarteritis nodosa,TRUE,FALSE,Active +GARD:7417,Active,Orphanet,ORPHA:728,Disorder,[Disease],Relapsing polychondritis,[Polychondropathia],"A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage along with joint, ocular and cardiovascular involvement.",,,,,,Relapsing polychondritis,TRUE,FALSE,Active +GARD:7419,Legacy,GARD,,,,,,,,,,,,Polycystic kidney disease,FALSE,FALSE,Active +GARD:742,Legacy,GARD,,,,,,,,,,,,Aortic dissection lentiginosis,TRUE,FALSE,Active +GARD:7421,Legacy,GARD,,,,,,,,,,,,Polycystic ovarian syndrome,FALSE,FALSE,Active +GARD:7422,Active,Orphanet,ORPHA:729,Disorder,[Disease],Polycythemia vera,"[Acquired primary erythrocytosis, Osler-Vaquez disease, PV, Polycythemia rubra vera, Vaquez disease]","Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.",[263300],,,,,Polycythemia vera,TRUE,FALSE,Active +GARD:7425,Active,Orphanet,ORPHA:732,Disorder,[Disease],Polymyositis,,"A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.",,,,,,Polymyositis,TRUE,FALSE,Active +GARD:743,Active,Orphanet,ORPHA:3193,Disorder,[Morphological anomaly],Supravalvular aortic stenosis,[SVAS],"A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement).",[185500],,,,,Supravalvular aortic stenosis,TRUE,FALSE,Active +GARD:7430,Active,Orphanet,ORPHA:2940,Disorder,[Disease],Porencephaly,,"A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.","[175780, 614483]",,,,,Porencephaly,TRUE,FALSE,Active +GARD:7431,Legacy,GARD,,,,,,,,,,,,Eccrine porocarcinoma,TRUE,FALSE,Active +GARD:7433,Active,Orphanet,ORPHA:101330,Disorder,[Disease],Porphyria cutanea tarda,[PCT],Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis.,"[176100, 176090]",,,,,Porphyria cutanea tarda,TRUE,FALSE,Active +GARD:7434,Legacy,GARD,,,,,,,,,,,,Post-infectious myocarditis,TRUE,FALSE,Retired +GARD:7437,Legacy,GARD,,,,,,,,,,,,Post-traumatic epilepsy,TRUE,FALSE,Active +GARD:7439,Active,Orphanet,ORPHA:93110,Disorder,[Morphological anomaly],Posterior urethral valve,[PUV],"A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly characterized by an abnormal congenital obstructing membrane or leaflets that are located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.",[618612],,,,,Posterior urethral valves,TRUE,FALSE,Active +GARD:744,Legacy,GARD,,,,,,,,,,,,Aortic valves stenosis of the child,TRUE,FALSE,Active +GARD:7444,Legacy,GARD,,,,,,,,,,,,Smallpox,TRUE,FALSE,Active +GARD:7446,Active,Orphanet,ORPHA:95708,Group of disorders,[Category],Rare precocious puberty,,,,,,,,Precocious puberty,TRUE,FALSE,Active +GARD:745,Legacy,GARD,,,,,,,,,,,,Aortopulmonary window,TRUE,FALSE,Active +GARD:7455,Legacy,GARD,,,,,,,,,,,,Primary agammaglobulinemia,TRUE,FALSE,Active +GARD:7456,Legacy,GARD,,,,,,,,,,,,Primary hyperaldosteronism,FALSE,FALSE,Active +GARD:7459,Active,Orphanet,ORPHA:186,Disorder,[Disease],Primary biliary cholangitis,"[Hanot syndrome, PBC, Primary biliary cirrhosis]","A rare autoimmune cholestatic liver disease characterized by autoimmune mediated damage of small intrahepatic bile ducts leading to cholestasis, fibrosis, and potential cirrhosis.","[614221, 613007, 109720, 613008, 614220]",,,,,Primary biliary cholangitis,TRUE,FALSE,Active +GARD:746,Legacy,GARD,,,,,,,,,,,,Apert like polydactyly syndrome,TRUE,FALSE,Retired +GARD:7465,Legacy,GARD,,,,,,,,,,,,Prinzmetal's variant angina,TRUE,FALSE,Active +GARD:7467,Active,Orphanet,ORPHA:740,Disorder,[Disease],Hutchinson-Gilford progeria syndrome,"[HGPS, Progeria]","Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).",[176670],,,,,Progeria,TRUE,FALSE,Active +GARD:7468,Active,Orphanet,ORPHA:217260,Disorder,[Disease],Progressive multifocal leukoencephalopathy,"[PML, Progressive multifocal leukoencephalitis]",,,,,,,Progressive multifocal leukoencephalopathy,TRUE,FALSE,Active +GARD:7471,Active,Orphanet,ORPHA:683,Disorder,[Disease],Progressive supranuclear palsy,[PSP syndrome],"A rare late-onset neurodegenerative disease characterized by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction.","[601104, 260540, 610898, 609454]",,,,,Progressive supranuclear palsy,TRUE,FALSE,Active +GARD:7473,Active,Orphanet,ORPHA:742,Disorder,[Disease],Prolidase deficiency,[Hyperimidodipeptiduria],"Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.",[170100],,,,,Prolidase deficiency,TRUE,FALSE,Active +GARD:7475,Active,Orphanet,ORPHA:744,Disorder,[Malformation syndrome],Proteus syndrome,[Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome],"Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.",[176920],,,,,Proteus syndrome,TRUE,FALSE,Active +GARD:7476,Legacy,GARD,,,,,,,,,,,,Protoporphyria,TRUE,FALSE,Active +GARD:7479,Active,Orphanet,ORPHA:2970,Disorder,[Malformation syndrome],Prune belly syndrome,"[Abdominal muscle deficiency syndrome, Eagle-Barret syndrome, Obrinsky syndrome, Triad syndrome]","A rare lower urinary tract obstruction (LUTO) characterized by varying degrees of an enlarged urinary bladder, dilated ureters, hydronephrosis, and poorly contractile and disorganized detrusor and ureteral smooth muscle, in association with hypoplastic or absent midline abdominal skeletal musculature, and bilaterally undescended testes in males.",[100100],,,,,Prune belly syndrome,TRUE,FALSE,Active +GARD:748,Active,Orphanet,ORPHA:1113,Disorder,[Malformation syndrome],Aphalangy-syndactyly-microcephaly syndrome,,"An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.",[600384],,,,,Aphalangia partial with syndactyly and duplication of metatarsal IV,TRUE,FALSE,Active +GARD:7480,Legacy,GARD,,,,,,,,,,,,Prurigo nodularis,TRUE,FALSE,Active +GARD:7482,Active,Orphanet,ORPHA:132,Disorder,[Disease],Butyrylcholinesterase deficiency,[Pseudocholinesterase deficiency],"Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.",[617936],,,,,Pseudocholinesterase deficiency,TRUE,FALSE,Active +GARD:7486,Active,Orphanet,ORPHA:79443,Disorder,[Disease],Pseudohypoparathyroidism type 1A,"[AHO-PHP syndrome Ia, Albright hereditary osteodystrophy-PHP syndrome Ia]","Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).",[103580],,,,,Pseudohypoparathyroidism type 1A,TRUE,FALSE,Active +GARD:7487,Legacy,GARD,,,,,,,,,,,,Pseudomonas stutzeri infections,TRUE,FALSE,Active +GARD:7488,Active,Orphanet,ORPHA:26790,Disorder,[Disease],Pseudomyxoma peritonei,"[Adenomucinosis, Gelatinous ascites, PMP]",Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.,,,,,,Pseudomyxoma peritonei,TRUE,FALSE,Active +GARD:749,Legacy,GARD,,,,,,,,,,,,Aplasia cutis autosomal recessive,TRUE,FALSE,Retired +GARD:7492,Legacy,GARD,,,,,,,,,,,,Psittacosis,TRUE,FALSE,Active +GARD:7499,Active,Orphanet,ORPHA:747,Disorder,[Disease],Autoimmune pulmonary alveolar proteinosis,"[Autoimmune PAP, aPAP]",A rare primary interstitial lung disease characterized by the accumulation of lipids and proteins related to surfactant in the alveoli in association with the presence of antibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF). The disease leads to a progressive impairment of gas exchange and respiratory insufficiency.,[610910],,,,,Autoimmune pulmonary alveolar proteinosis,TRUE,FALSE,Active +GARD:7501,Active,Orphanet,ORPHA:182090,Group of disorders,[Category],Pulmonary arterial hypertension,[PAH],"Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term).",,,,,,Pulmonary arterial hypertension,TRUE,FALSE,Active +GARD:7503,Active,Orphanet,ORPHA:580951,Disorder,[Disease],Punctate inner choroidopathy,,"A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.",,,,,,Punctate inner choroidopathy,TRUE,FALSE,Active +GARD:7504,Legacy,GARD,,,,,,,,,,,,Pure red cell aplasia,TRUE,FALSE,Active +GARD:7507,Legacy,GARD,,,,,,,,,,,,Hereditary orotic aciduria without megaloblastic anaemia,TRUE,FALSE,Retired +GARD:7508,Legacy,GARD,,,,,,,,,,,,Purpura simplex,FALSE,FALSE,Active +GARD:751,Legacy,GARD,,,,,,,,,,,,Aplasia cutis congenita dominant,TRUE,FALSE,Retired +GARD:7510,Active,Orphanet,ORPHA:48104,Disorder,[Disease],Pyoderma gangrenosum,,Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.,,,,,,Pyoderma gangrenosum,TRUE,FALSE,Active +GARD:7512,Active,Orphanet,ORPHA:3008,Disorder,[Disease],Pyruvate carboxylase deficiency,"[Ataxia with lactic acidosis type 2, Ataxia with lactic acidosis type II, Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, Leigh syndrome due to PC deficiency, Leigh syndrome due to pyruvate carboxylase deficiency]","Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.",[266150],,,,,Pyruvate carboxylase deficiency,TRUE,FALSE,Active +GARD:7513,Active,Orphanet,ORPHA:765,Disorder,[Disease],Pyruvate dehydrogenase deficiency,"[PDH, PDHC, Pyruvate dehydrogenase complex deficiency]","Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms).","[246900, 608782, 245348, 312170, 614111, 245349]",,,,,Pyruvate dehydrogenase complex deficiency,TRUE,FALSE,Active +GARD:7514,Active,Orphanet,ORPHA:766,Disorder,[Disease],Hemolytic anemia due to red cell pyruvate kinase deficiency,[Pyruvate kinase deficiency of erythrocytes],"A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.",[266200],,,,,Pyruvate kinase deficiency,TRUE,FALSE,Active +GARD:7515,Active,Orphanet,ORPHA:781,Disorder,[Disease],Q fever,"[Coxiellosis, Infection due to Coxiella burnetii, Nine Mile fever, Quadrilateral fever, Query fever]","Q fever, caused by Coxiella burnetii, is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic.",,,,,,Q fever,TRUE,FALSE,Active +GARD:7516,Active,Orphanet,ORPHA:770,Disorder,[Disease],Rabies,,Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.,,,,,,Rabies,TRUE,FALSE,Active +GARD:7517,Legacy,GARD,,,,,,,,,,,,Radiation induced angiosarcoma of the breast,TRUE,FALSE,Active +GARD:7519,Legacy,GARD,,,,,,,,,,,,Radiation induced cancer,TRUE,FALSE,Active +GARD:7523,Active,Orphanet,ORPHA:3019,Disorder,[Malformation syndrome],Ramon syndrome,[Cherubism-gingival fibromatosis-intellectual disability syndrome],"A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.",[266270],,,,,Ramon Syndrome,TRUE,FALSE,Active +GARD:7525,Active,Orphanet,ORPHA:3020,Disorder,[Disease],Ramsay Hunt syndrome,"[Facial nerve palsy due to VZV, Facial nerve palsy due to herpes zoster infection, Facial nerve paralysis due to VZV]","A rare infectious disease characterized by herpes zoster oticus associated with peripheral facial nerve palsy, often also with other cranial nerve lesions. Patients present with a painful erythematous vesicular rash in and around one ear and facial paralysis on the same side. Other frequent manifestations include hearing loss, tinnitus, vertigo, nausea, vomiting, and nystagmus.",,,,,,Herpes zoster oticus,TRUE,FALSE,Active +GARD:7527,Legacy,GARD,,,,,,,,,,,,Rasmussen encephalitis,TRUE,FALSE,Active +GARD:753,Active,Orphanet,ORPHA:1116,Disorder,[Disease],Aplasia cutis congenita-intestinal lymphangiectasia syndrome,[Bronspiegel-Zelnick syndrome],"An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.",[207731],,,,,Aplasia cutis congenita intestinal lymphangiectasia,TRUE,FALSE,Active +GARD:7533,Legacy,GARD,,,,,,,,,,,,Rectal neoplasm,TRUE,FALSE,Retired +GARD:7534,Legacy,GARD,,,,,,,,,,,,Rectosigmoid neoplasm,TRUE,FALSE,Retired +GARD:754,Legacy,GARD,,,,,,,,,,,,Aplasia cutis congenita of limbs recessive,TRUE,FALSE,Active +GARD:7545,Legacy,GARD,,,,,,,,,,,,Renal cancer,TRUE,FALSE,Retired +GARD:7548,Active,Orphanet,ORPHA:69076,Disorder,[Disease],Familial renal glucosuria,"[Familial renal glycosuria, SGLT2 deficiency]","A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation.",[233100],,,,,Renal glycosuria,TRUE,FALSE,Active +GARD:755,Legacy,GARD,,,,,,,,,,,,Aplasia cutis congenita recessive,TRUE,FALSE,Retired +GARD:7551,Legacy,GARD,,,,,,,,,,,,Renal rickets,TRUE,FALSE,Active +GARD:7552,Active,Orphanet,ORPHA:314822,Group of disorders,[Clinical group],Primary renal tubular acidosis,,"A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal.",,,,,,Renal tubular acidosis,TRUE,FALSE,Active +GARD:7555,Legacy,GARD,,,,,,,,,,,,Renoprival hypertension,TRUE,FALSE,Active +GARD:7559,Legacy,GARD,,,,,,,,,,,,Reticuloendotheliosis,TRUE,FALSE,Active +GARD:756,Active,Orphanet,ORPHA:1117,Disorder,[Disease],Aplasia cutis-myopia syndrome,[Gershoni-Baruch-Leibo syndrome],"A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.",[601075],,,,,Aplasia cutis myopia,TRUE,FALSE,Active +GARD:7563,Active,Orphanet,ORPHA:790,Disorder,[Disease],Retinoblastoma,,"A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.",[180200],,,,,Retinoblastoma,TRUE,FALSE,Active +GARD:7570,Active,Orphanet,ORPHA:3096,Disorder,[Disease],Reye syndrome,,"A rare, systemic disease characterized by persistent vomiting with confusion, lethargy, disorientation, hyperreflexia, hyperventilation, and tachycardia, with rapid progression to seizures, non-inflammatory encephalopathy, coma and death. It typically develops between 12 hours and 3 weeks after recovery from a viral illness, such as upper respiratory tract infection or gastroenteritis. Hepatomegaly, acute hepatic steatosis, fatty liver degeneration and multiple laboratory abnormalities are associated.",,,,,,Reye syndrome,TRUE,FALSE,Active +GARD:7572,Active,Orphanet,ORPHA:69077,Disorder,[Disease],Rhabdoid tumor,[Malignant rhabdoid tumor],"Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term).","[613325, 609322]",,,,,Rhabdoid tumor,TRUE,FALSE,Active +GARD:7577,Legacy,GARD,,,,,,,,,,,,Rheumatoid vasculitis,TRUE,FALSE,Active +GARD:7578,Legacy,GARD,,,,,,,,,,,,Richter syndrome,TRUE,FALSE,Active +GARD:758,Legacy,GARD,,,,,,,,,,,,Apo A-I deficiency,TRUE,FALSE,Active +GARD:7581,Active,Orphanet,ORPHA:1764,Disorder,[Disease],Familial dysautonomia,"[HSAN3, Hereditary sensory and autonomic neuropathy type 3, Hereditary sensory and autonomic neuropathy type III, Riley-Day syndrome]","A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy.",[223900],,,,,Familial dysautonomia,TRUE,FALSE,Active +GARD:7585,Active,Orphanet,ORPHA:83311,Disorder,[Disease],Rocky Mountain spotted fever,,"A rare, acquired, life-threatening, infectious disease due to the tick-borne bacteria Rickettsia rickettsii characterized by an acute onset of fever, malaise, and severe headache, variably accompanied by myalgia, anorexia, nausea, vomiting, abdominal pain, and photophobia, associating (2-5 days after fever onset) a typically erythematous, blanching or non-blanching, maculopapluar rash with petechiae, starting on the wrists and ankles and progressing centrifugally to the palms and soles and centripetally to the arms, legs and trunk. Additonal variable features may include conjunctivitis, mucosal ulcers, post-inflammatory hyperpigmentation, jaundice, pneumonia, hepatomegaly, renal failure, meningismus, amnesia, optic disc edema, and ocular arterial occlusion.",,,,,,Rocky mountain spotted fever,TRUE,FALSE,Active +GARD:7588,Active,Orphanet,ORPHA:158014,Disorder,[Disease],Rosaï-Dorfman disease,"[Destombes-Rosaï-Dorfman disease, Rosaï-Dorfman-Destombes disease, SHML, Sinus histiocytosis with massive lymphadenopathy]","A rare non-Langerhans cell histiocytosis characterized by infiltration of lymph nodes or extranodal tissues by non-malignant histiocytes displaying emperipolesis, a non-destructive phagocytosis of lymphocytes or erythrocytes. Most typical presentation is as a massive cervical lymphadenopathy in adolescents and young adults. Most frequent sites of extranodal disease are skin, soft tissue, bones, paranasal sinuses, orbit, salivary glands, and central nervous system. Symptoms are related to mass effect in the affected organs.",,,,,,Rosai-Dorfman disease,TRUE,FALSE,Active +GARD:759,Active,Orphanet,ORPHA:309020,Subtype of disorder,[Etiological subtype],Familial apolipoprotein C-II deficiency,"[Familial APOC2 deficiency, Familial apoC-II deficiency]",,[207750],,,,,Apolipoprotein C-II deficiency,TRUE,FALSE,Active +GARD:7593,Active,Orphanet,ORPHA:783,Disorder,[Malformation syndrome],Rubinstein-Taybi syndrome,"[Broad thumb-hallux syndrome, Broad thumbs-halluces syndrome]","A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.","[613684, 180849, 610543]",,,,,Rubinstein-Taybi syndrome,TRUE,FALSE,Active +GARD:7594,Legacy,GARD,,,,,,,,,,,,Rumination disorder,TRUE,FALSE,Active +GARD:7597,Legacy,GARD,,,,,,,,,,,,Sacral plexopathy,TRUE,FALSE,Active +GARD:7598,Active,Orphanet,ORPHA:794,Disorder,[Malformation syndrome],Saethre-Chotzen syndrome,"[ACS3, Acrocephalosyndactyly type 3, SCS]","A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.","[180750, 101400]",,,,,Saethre-Chotzen syndrome,TRUE,FALSE,Active +GARD:76,Active,Orphanet,ORPHA:238468,Disorder,[Disease],Hypohidrotic ectodermal dysplasia,"[Anhidrotic ectodermal dysplasia, HED]","A rare genetic ectodermal dysplasia syndrome characterized by sparse hair, abnormal or missing teeth, decrease or absent sudation and typical facial features.","[224900, 300291, 305100, 614940, 614941, 129490, 612132]",,,,,Hypohidrotic ectodermal dysplasia,TRUE,FALSE,Active +GARD:7604,Active,Orphanet,ORPHA:309155,Subtype of disorder,[Clinical subtype],"Sandhoff disease, infantile form","[Hexosaminidases A and B deficiency, infantile form, Infantile GM2 gangliosidosis 0 variant]",,[268800],,,,,Sandhoff disease,TRUE,FALSE,Active +GARD:7606,Active,Orphanet,ORPHA:793,Disorder,[Disease],SAPHO syndrome,[Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome],"A rare, pyogenic autoinflammatory disease, characterized by the association of neutrophilic cutaneous involvement and chronic nonbacterial osteomyelitis.",,,,,,SAPHO syndrome,TRUE,FALSE,Active +GARD:7607,Active,Orphanet,ORPHA:797,Disorder,[Disease],Sarcoidosis,"[Besnier-Boeck-Schaumann disease, Boeck sarcoid]","A rare multisystemic, autoinflammatory disorder of unknown etiology characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome.","[612388, 181000, 612387]",,,,,Sarcoidosis,FALSE,FALSE,Active +GARD:7608,Active,Orphanet,ORPHA:431272,Disorder,[Disease],X-linked scapuloperoneal muscular dystrophy,"[X-linked SPMD, X-linked scapuloperoneal syndrome]","A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging.",[300695],,,,,X-linked dominant scapuloperoneal myopathy,TRUE,FALSE,Active +GARD:7609,Legacy,GARD,,,,,,,,,,,,Pigmented purpuric dermatosis,TRUE,FALSE,Active +GARD:7610,Active,Orphanet,ORPHA:3135,Disorder,[Malformation syndrome],Familial Scheuermann disease,"[Familial Scheuermann juvenile kyphosis, Familial spinal osteochondrosis]","Familial Scheuermann disease is characterized by kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl's nodes, disk-space narrowing, and vertebral wedging and is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls.",[181440],,,,,Scheuermann disease,TRUE,FALSE,Active +GARD:7611,Active,Orphanet,ORPHA:3143,Disorder,[Disease],Autoimmune polyendocrinopathy type 2,"[APS type 2, APS2, Autoimmune polyendocrine syndrome type 2, Autoimmune polyglandular syndrome type 2, Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome, Schmidt syndrome]","A rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present.",[269200],,,,,Autoimmune polyglandular syndrome type 2,TRUE,FALSE,Active +GARD:7615,Active,Orphanet,ORPHA:167635,Disorder,[Disease],Scleromyxedema,"[Arndt-Gottron disease, Generalized lichenoid papular eruption, Generalized papular and sclerodermoid lichen myxedematosus]","A rare lichen myxedematosus characterized by a progressive, generalized, papular, sclerodermoid cutaneous eruption usually occurring in association with monoclonal gammopathy, but in the absence of thyroid disease. Histological hallmark is the triad of dermal mucin deposition, fibroblast proliferation, and fibrosis. Patients present with relatively sudden onset of numerous closely spaced, waxy, firm papules and plaques predominantly involving the head, neck, trunk, and dorsal aspects of the extremities, on the background of thickened, edematous, erythematous skin with sclerodermoid appearance. Systemic involvement with cardiovascular, gastrointestinal, pulmonary, musculoskeletal, renal, or nervous system complications is common.",,,,,,Scleromyxedema,TRUE,FALSE,Active +GARD:7617,Active,Orphanet,ORPHA:454745,Disorder,[Disease],Kuru,,"A rare acquired human prion disease characterized by rapidly progressive, fatal neurodegeneration, caused by the consumption of prion-containing tissue in endocannibalistic funeral rituals in Papua New Guinea until the late 1950s. After a decades-long asymptomatic period and a non-specific prodromal phase with headaches and arthralgia, the most prominent neurological feature is ataxia, in addition to other symptoms involving the cerebellum, brain stem, mid-brain, hypothalamus, and cerebral cortex, and emotional changes including inappropriate euphoria and compulsive laughter, or depression and apprehension. The last reported patient died in 2005 with an incubation period extending over four decades.",[245300],,,,,Kuru,TRUE,FALSE,Active +GARD:762,Legacy,GARD,,,,,,,,,,,,APUDoma,TRUE,FALSE,Retired +GARD:7624,Legacy,GARD,,,,,,,,,,,,Selenium poisoning,TRUE,FALSE,Active +GARD:7627,Active,Orphanet,ORPHA:3157,Disorder,[Malformation syndrome],Septo-optic dysplasia spectrum,"[De Morsier syndrome, SOD, Septo-optic dysplasia]","Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.",[182230],,,,,Septo-optic dysplasia spectrum,TRUE,FALSE,Active +GARD:7628,Active,Orphanet,ORPHA:183660,Group of disorders,[Clinical group],Severe combined immunodeficiency,[SCID],"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells.",,,,,,Severe combined immunodeficiency,TRUE,FALSE,Active +GARD:7629,Active,Orphanet,ORPHA:3162,Disorder,[Disease],Sézary syndrome,[Sézary lymphoma],"Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).",,,,,,Sezary syndrome,TRUE,FALSE,Active +GARD:763,Legacy,GARD,,,,,,,,,,,,"Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis",TRUE,FALSE,Active +GARD:7630,Active,Orphanet,ORPHA:91355,Disorder,[Malformation syndrome],Sheehan syndrome,,"Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libido, weakness, fatigue, anorexia, nausea, vomiting, hypoglycemia, hyponatremia, dizziness, decreased muscle mass, adrenal crisis). Secondary hypothyroidism and secondary adrenal insufficiency may also be presenting signs.",,,,,,Sheehan syndrome,TRUE,FALSE,Active +GARD:7633,Active,Orphanet,ORPHA:3163,Disorder,[Malformation syndrome],SHORT syndrome,"[Lipodystrophy-Rieger anomaly-diabetes syndrome, Rieger anomaly-partial lipodystrophy syndrome]","A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.",[269880],,,,,SHORT syndrome,TRUE,FALSE,Active +GARD:7636,Legacy,GARD,,,,,,,,,,,,Shwartzman phenomenon,TRUE,FALSE,Active +GARD:7637,Legacy,GARD,,,,,,,,,,,,Multiple system atrophy (MSA) with orthostatic hypotension,TRUE,FALSE,Retired +GARD:7638,Legacy,GARD,,,,,,,,,,,,Sialadenitis,TRUE,FALSE,Active +GARD:7639,Active,Orphanet,ORPHA:812,Disorder,[Disease],Sialidosis type 1,"[Cherry-red spot-myoclonus syndrome, Lipomucopolysaccharidosis, Normomorphic sialidosis]","Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.",[256550],,,,,Sialidosis type I,TRUE,FALSE,Active +GARD:764,Active,Orphanet,ORPHA:1130,Disorder,[Malformation syndrome],Arachnodactyly-intellectual disability-dysmorphism syndrome,[De Die-Smulders-Vles-Fryns syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.",,,,,,Arachnodactyly - intellectual disability - dysmorphism,TRUE,FALSE,Active +GARD:7644,Legacy,GARD,,,,,,,,,,,,Sideroblastic anemia acquired,TRUE,FALSE,Retired +GARD:7645,Legacy,GARD,,,,,,,,,,,,Siderosis,TRUE,FALSE,Active +GARD:7647,Legacy,GARD,,,,,,,,,,,,Silicosis,TRUE,FALSE,Active +GARD:7648,Legacy,GARD,,,,,,,,,,,,Simian B virus infection,TRUE,FALSE,Active +GARD:7649,Active,Orphanet,ORPHA:373,Disorder,[Malformation syndrome],Simpson-Golabi-Behmel syndrome,"[DGSX, Golabi-Rosen syndrome, SDYS, SGBS, SGBS1, Simpson dysmorphia syndrome, Simpson-Golabi-Behmel syndrome type 1, X-linked dysplasia gigantism syndrome]","A rare X-linked multiple congenital anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.",[312870],,,,,Simpson-Golabi-Behmel syndrome,TRUE,FALSE,Active +GARD:7650,Legacy,GARD,,,,,,,,,,,,Sinus cancer,TRUE,FALSE,Active +GARD:7652,Active,Orphanet,ORPHA:3169,Disorder,[Malformation syndrome],Sirenomelia,,"A rare, lethal, congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore, there is wide phenotipical variability in the musculoskeletal, central nervous system, cardiopulmonary, anomalies present. Pelvic, sacral and spinal defects , internal and external genitalia defects, renal agenesis, absent bladder, rectal/anal atresia are commonly described. Most cases are stillborn or die during, or shortly after, birth. Sirenomelia can be classified on the basis of limb malformations phenotypes. Due to the similarity, the distinction between sirenomelia and caudal regression syndrome, familial caudal dysgenesis and VACTERL is debated.",[600145],,,,,Sirenomelia,TRUE,FALSE,Active +GARD:7653,Active,Orphanet,ORPHA:2882,Disorder,[Disease],Sitosterolemia,[Phytosterolemia],"Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.","[210250, 618666]",,,,,Sitosterolemia,TRUE,FALSE,Active +GARD:7654,Active,Orphanet,ORPHA:816,Disorder,[Disease],Sjögren-Larsson syndrome,[Fatty acid alcohol oxidoreductase deficiency],"A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.",[270200],,,,,Sjogren-Larsson syndrome,TRUE,FALSE,Active +GARD:7656,Legacy,GARD,,,,,,,,,,,,Skeletal dysplasias,FALSE,FALSE,Active +GARD:7664,Active,Orphanet,ORPHA:820,Disorder,[Disease],Sneddon syndrome,"[Ehrmann-Sneddon syndrome, Livedo racemosa-cerebrovascular accident syndrome, Livedo reticularis-cerebrovascular accident syndrome]",Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.,[182410],,,,,Sneddon syndrome,TRUE,FALSE,Active +GARD:7668,Legacy,GARD,,,,,,,,,,,,Spasmodic dysphonia,TRUE,FALSE,Active +GARD:7672,Active,Orphanet,ORPHA:79225,Group of disorders,[Category],Sphingolipidosis,,,,,,,,Sphingolipidosis,TRUE,FALSE,Active +GARD:7673,Active,Orphanet,ORPHA:823,Group of disorders,[Clinical group],Isolated spina bifida,,"A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development, not associated with other major congenital malformations nor ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.","[601634, 301410, 182940]",,,,,Spina bifida,TRUE,FALSE,Active +GARD:7674,Legacy,GARD,,,,,,,,,,,,Spinal muscular atrophy,TRUE,FALSE,Active +GARD:7675,Legacy,GARD,,,,,,,,,,,,Spinal bulbar motor neuropathy,TRUE,FALSE,Retired +GARD:7679,Legacy,GARD,,,,,,,,,,,,Spinal cord neoplasm,TRUE,FALSE,Retired +GARD:7680,Legacy,GARD,,,,,,,,,,,,Spinal shock,TRUE,FALSE,Active +GARD:7682,Legacy,GARD,,,,,,,,,,,,Spirochetes disease,TRUE,FALSE,Active +GARD:7683,Legacy,GARD,,,,,,,,,,,,Splenic neoplasm,TRUE,FALSE,Active +GARD:7684,Legacy,GARD,,,,,,,,,,,,Splenomegaly,TRUE,FALSE,Active +GARD:7685,Legacy,GARD,,,,,,,,,,,,Split hand foot malformation 1,TRUE,FALSE,Retired +GARD:7687,Active,Orphanet,ORPHA:253,Group of disorders,[Clinical group],Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia,[SED and SEMD],,,,,,,Spondyloepiphyseal dysplasia,TRUE,FALSE,Active +GARD:7690,Active,Orphanet,ORPHA:356,Disorder,[Disease],Gerstmann-Straussler-Scheinker syndrome,"[Subacute spongiform encephalopathy, Gerstmann-Straussler type]","A rare inherited human prion disease characterized by adult onset of slowly progressive cerebellar ataxia, with dementia developing relatively late in the disease course (classic ataxic phenotype). Patients may present with gait disturbances and frequent falls, dysarthria, dysphagia, nystagmus, dysmetry, and eventually pancerebellar syndrome, myoclonus, spasticity, severe dementia, and mutism. The disease is invariably fatal after five years on average. Neuropathological hallmark is the presence of numerous multicentric prion protein plaques in the cerebral and cerebellar cortex.",[137440],,,,,Gerstmann-Straussler-Scheinker disease,TRUE,FALSE,Active +GARD:7692,Active,Orphanet,ORPHA:826,Disorder,[Disease],Sporotrichosis,,"Sporotrichosis is an infection caused by the dimorphic fungus Sporothrix schenckii, generally occurring by traumatic inoculation of fungus from contaminated soil, plants, and organic matter, that has a highly variable disease spectrum but that usually presents as a subcutaneous mycosis with a single sporotrichotic chancre that may ulcerate and can then progress to lymphocutaneous (most common form; sporotrichotic chancre at inoculation site and a string of similar nodules along the proximal lymphatics), fixed cutaneous (localized asymptomatic, erythematous, papules at the inoculation site), or multifocal or disseminated cutaneous (rare form, with 3 or more lesions involving 2 different anatomical sites) forms. Pulmonary sporotrichosis occurs following inhalation of fungus and manifests as chronic pneumonitis while extracutaneous or systemic sporotrichosis (with osteoarticular, pulmonary, and central nervous system/meningeal disease) has also been reported, usually occurring in the setting of immunosuppression.",,,,,,Sporotrichosis,TRUE,FALSE,Active +GARD:7693,Active,Orphanet,ORPHA:3181,Disorder,[Morphological anomaly],Sprengel deformity,[High scapula],"A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others.",[184400],,,,,Sprengel deformity,TRUE,FALSE,Active +GARD:7695,Active,Orphanet,ORPHA:22,Disorder,[Disease],Succinic semialdehyde dehydrogenase deficiency,"[4-hydroxybutyric aciduria, Gamma-hydroxybutyric aciduria, SSADH deficiency]","A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.",[271980],,,,,Succinic semialdehyde dehydrogenase deficiency,TRUE,FALSE,Active +GARD:770,Active,Orphanet,ORPHA:35708,Disorder,[Disease],Aromatic L-amino acid decarboxylase deficiency,[AADC deficiency],"A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion).",[608643],,,,,Aromatic L-amino acid decarboxylase deficiency,TRUE,FALSE,Active +GARD:7700,Active,Orphanet,ORPHA:36426,Subtype of disorder,[Clinical subtype],Stevens-Johnson syndrome,"[Dermatostomatitis, Stevens Johnson type]",A limited form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.,[608579],,,,,Stevens-Johnson syndrome/toxic epidermal necrolysis,TRUE,FALSE,Active +GARD:7704,Legacy,GARD,,,,,,,,,,,,Stomach cancer,TRUE,FALSE,Active +GARD:7706,Active,Orphanet,ORPHA:3205,Disorder,[Malformation syndrome],Sturge-Weber syndrome,"[Encephalofacial angiomatosis, Encephalotrigeminal angiomatosis, SWS, Sturge-Weber-Dimitri syndrome, Sturge-Weber-Krabbe angiomatosis, Sturge-Weber-Krabbe syndrome]",A rare congenital neurocutaneous syndrome defined by a facial capillary malformation or port-wine birthmark (PWB) associated with cerebral and ocular ipsilateral vascular malformations in most of the cases resulting in variable ocular and neurological complications.,[185300],,,,,Sturge-Weber syndrome,TRUE,FALSE,Active +GARD:7708,Active,Orphanet,ORPHA:2806,Disorder,[Disease],Subacute sclerosing leukoencephalitis,"[Dawson encephalitis, SSPE, Subacute inclusion body encephalitis, Subacute sclerosing panencephalitis, Van Bogaert disease, Van Bogaert encephalitis]",A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.,[260470],,,,,Subacute sclerosing panencephalitis,TRUE,FALSE,Active +GARD:771,Legacy,GARD,,,,,,,,,,,,Arroyo Garcia Cimadevilla syndrome,TRUE,FALSE,Active +GARD:7710,Active,Orphanet,ORPHA:35122,Disorder,[Disease],Congenital sucrase-isomaltase deficiency,"[CSID, Congenital sucrose intolerance, Disaccharide intolerance]","A rare, genetic, congenital carbohydrate intolerance disorder characterized by lack of endogenous sucrase activity, marked reduction in isomaltase activity, and moderate decrease in maltase activity, and clinically manifesting with diarrhea, abdominal pain and bloating, failure to thrive.",[222900],,,,,Congenital sucrase-isomaltase deficiency,TRUE,FALSE,Active +GARD:7711,Legacy,GARD,,,,,,,,,,,,Sudden infant death syndrome,TRUE,FALSE,Active +GARD:7712,Active,Orphanet,ORPHA:622099,Disorder,[Disease],Superior mesenteric artery syndrome,"[SMAS, Wilkie syndrome]",,,,,,,Superior mesenteric artery syndrome,TRUE,FALSE,Active +GARD:7713,Active,Orphanet,ORPHA:838,Disorder,[Disease],Susac syndrome,[Retinocochleocerebral vasculopathy],"A rare systemic or rheumatologic disease characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL) due to autoimmune-mediated occlusions of microvessels in the brain, retina, and inner ear.",,,,,,Susac syndrome,TRUE,FALSE,Active +GARD:7714,Legacy,GARD,,,,,,,,,,,,Sutton disease 2,TRUE,FALSE,Active +GARD:7716,Active,Orphanet,ORPHA:306731,Disorder,[Particular clinical situation in a disease or syndrome],Sydenham chorea,,,,,,,,Sydenham's chorea,TRUE,FALSE,Active +GARD:7719,Legacy,GARD,,,,,,,,,,,,Synovial cancer,TRUE,FALSE,Retired +GARD:7720,Legacy,GARD,,,,,,,,,,,,"Synovial chondromatosis, familial with dwarfism",TRUE,FALSE,Active +GARD:7721,Active,Orphanet,ORPHA:3273,Disorder,[Disease],Synovial sarcoma,[Synovialosarcoma],"Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).",[300813],,,,,Synovial sarcoma,TRUE,FALSE,Active +GARD:7722,Legacy,GARD,,,,,,,,,,,,Synovitis,TRUE,FALSE,Active +GARD:7724,Legacy,GARD,,,,,,,,,,,,Syringobulbia,TRUE,FALSE,Active +GARD:7725,Active,Orphanet,ORPHA:3280,Group of disorders,[Clinical group],Syringomyelia,[Hydromyelia],"Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).",[186700],,,,,Syringomyelia,TRUE,FALSE,Active +GARD:7727,Legacy,GARD,,,,,,,,,,,,Diffuse scleroderma,TRUE,FALSE,Retired +GARD:7728,Legacy,GARD,,,,,,,,,,,,T-Lymphocytopenia,TRUE,FALSE,Retired +GARD:7730,Active,Orphanet,ORPHA:3287,Disorder,[Disease],Takayasu arteritis,,"A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.",[207600],,,,,Takayasu arteritis,TRUE,FALSE,Active +GARD:7731,Active,Orphanet,ORPHA:31150,Disorder,[Disease],Tangier disease,"[ATP-binding cassette transporter A1 deficiency, Analphalipoproteinemia]","A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease.",[205400],,,,,Tangier disease,TRUE,FALSE,Active +GARD:7732,Legacy,GARD,,,,,,,,,,,,Tardive dyskinesia,FALSE,FALSE,Active +GARD:7733,Legacy,GARD,,,,,,,,,,,,Tarsal tunnel syndrome,TRUE,FALSE,Active +GARD:7737,Active,Orphanet,ORPHA:845,Disorder,[Disease],Tay-Sachs disease,"[GM2 gangliosidosis, B, B1 variant, Hexosaminidase A deficiency]",A rare disorder characterized by accumulation of G2 gangliosides due to hexosaminidase A deficiency.,[272800],,,,,Tay-Sachs disease,TRUE,FALSE,Active +GARD:774,Active,Orphanet,ORPHA:3342,Disorder,[Malformation syndrome],Arterial tortuosity syndrome,[ATS],"A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.",[208050],,,,,Arterial tortuosity syndrome,TRUE,FALSE,Active +GARD:7741,Legacy,GARD,,,,,,,,,,,,Telencephalic leukoencephalopathy,FALSE,FALSE,Retired +GARD:7743,Active,Orphanet,ORPHA:95455,Disorder,[Disease],Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,"[SJS-TEN, Toxic epidermolysis]",Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.,[608579],,,,,Toxic epidermal necrolysise,TRUE,FALSE,Retired +GARD:7744,Legacy,GARD,,,,,,,,,,,,Malignant Teratocarcinosarcoma,TRUE,FALSE,Active +GARD:7746,Legacy,GARD,,,,,,,,,,,,Testicular cancer,TRUE,FALSE,Retired +GARD:775,Legacy,GARD,,,,,,,,,,,,Arthritis short stature deafness,TRUE,FALSE,Retired +GARD:7751,Active,Orphanet,ORPHA:238583,Disorder,[Disease],Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,"[Hyperphenylalaninemia due to BH4 deficiency, Non-phenylketonuric hyperphenylalaninemia]","An amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.","[233910, 261630, 261640, 264070]",,,,,Tetrahydrobiopterin deficiency,TRUE,FALSE,Active +GARD:7754,Active,Orphanet,ORPHA:9,Disorder,[Malformation syndrome],Tetrasomy X,"[48,XXXX syndrome, Quadruple X, Tetra X]","Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).",,,,,,Tetrasomy X,TRUE,FALSE,Active +GARD:7756,Legacy,GARD,,,,,,,,,,,,Thalassemia,TRUE,FALSE,Active +GARD:7759,Active,Orphanet,ORPHA:97330,Disorder,[Disease],Thoracic outlet syndrome,"[TOS, Thoracic outlet compression syndrome]","Thoracic outlet syndrome (TOS) is a group of disorders characterized by paresthesias, pain and weakness of the upper extremities due to compression, tension or inflammation of the neurovascular bundle as it passes through the thoracic outlet. There are 3 forms of TOS with different clinical pictures and etiologies: neurogenic TOS (NTOS) that can be divided into true or disputed forms, arterial TOS (ATOS) and venous TOS (VTOS) (see these terms).",,,,,,Thoracic outlet syndromes,FALSE,FALSE,Active +GARD:7760,Legacy,GARD,,,,,,,,,,,,Thrombasthenia,TRUE,FALSE,Active +GARD:7767,Legacy,GARD,,,,,,,,,,,,"Thymoma, childhood",TRUE,FALSE,Retired +GARD:777,Active,Orphanet,ORPHA:1037,Group of disorders,[Clinical group],Arthrogryposis multiplex congenita,"[AMC, Multiple congenital arthrogryposis]",A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.,,,,,,Arthrogryposis multiplex congenita,TRUE,FALSE,Active +GARD:7771,Legacy,GARD,,,,,,,,,,,,Tick paralysis,TRUE,FALSE,Active +GARD:7772,Active,Orphanet,ORPHA:42665,Disorder,[Malformation syndrome],Tietz syndrome,"[Hypopigmentation-deafness syndrome, Hypopigmentation-hearing loss syndrome]","Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.",[103500],,,,,Tietz syndrome,TRUE,FALSE,Active +GARD:7776,Legacy,GARD,,,,,,,,,,,,Togaviridae disease,TRUE,FALSE,Active +GARD:7777,Active,Orphanet,ORPHA:64686,Disorder,[Disease],Tolosa-Hunt syndrome,[Painful ophthalmoplegia],"Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.",,,,,,Tolosa Hunt syndrome,TRUE,FALSE,Active +GARD:7779,Legacy,GARD,,,,,,,,,,,,Tongue cancer,TRUE,FALSE,Active +GARD:7781,Legacy,GARD,,,,,,,,,,,,TORCH syndrome,TRUE,FALSE,Active +GARD:7782,Legacy,GARD,,,,,,,,,,,,"Dystonia 7, torsion",TRUE,FALSE,Retired +GARD:7783,Legacy,GARD,,,,,,,,,,,,Tourette syndrome,FALSE,FALSE,Active +GARD:7784,Active,Orphanet,ORPHA:857,Disorder,[Malformation syndrome],Townes-Brocks syndrome,"[Imperforate anus-hand, foot and ear anomalies syndrome, REAR syndrome, Renal-ear-anal-radial syndrome, Sensorineural deafness with imperforate anus and hypoplastic thumbs, Sensorineural hearing loss with imperforate anus and hypoplastic thumbs, TBS, Townes syndrome]","A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.","[617466, 107480]",,,,,Townes-Brocks syndrome,TRUE,FALSE,Active +GARD:7788,Legacy,GARD,,,,,,,,,,,,Toxocariasis,FALSE,FALSE,Active +GARD:779,Legacy,GARD,,,,,,,,,,,,Arthrogryposis due to muscular dystrophy,TRUE,FALSE,Active +GARD:7791,Legacy,GARD,,,,,,,,,,,,Tracheobronchomalacia,TRUE,FALSE,Active +GARD:7792,Legacy,GARD,,,,,,,,,,,,Tracheoesophageal fistula,TRUE,FALSE,Active +GARD:7793,Active,Orphanet,ORPHA:98871,Disorder,[Disease],Transient erythroblastopenia of childhood,[Transient acquired pure red cell aplasia],"A rare, benign, red cell aplasia of young children or infants characterized by a normocytic normochromic anaemia with severe reticulocytopenia in otherwise normocellular bone marrow, and a complete spontaneous recovery within 1-2 months after diagnosis. Neutropenia and thrombocytosis may be associated findings at diagnosis, and a history of a preceding viral illness is frequent. No organomegaly is observed.",[227050],,,,,Transient erythroblastopenia of childhood,TRUE,FALSE,Active +GARD:7794,Legacy,GARD,,,,,,,,,,,,Transitional cell carcinoma,TRUE,FALSE,Active +GARD:7795,Active,Orphanet,ORPHA:216675,Group of disorders,[Category],Transposition of the great arteries,"[Complete transposition, TGA, TGV, Transposition of the great vessels]",,,,,,,Transposition of the great arteries,TRUE,FALSE,Active +GARD:7796,Legacy,GARD,,,,,,,,,,,,Transverse myelitis,TRUE,FALSE,Active +GARD:7798,Legacy,GARD,,,,,,,,,,,,Treponema infection,TRUE,FALSE,Active +GARD:7799,Active,Orphanet,ORPHA:3352,Disorder,[Malformation syndrome],Tricho-dento-osseous syndrome,[TDO syndrome],"Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.",[190320],,,,,Tricho-dento-osseous syndrome,TRUE,FALSE,Active +GARD:7800,Active,Orphanet+OMIM,OMIM:190350,Subtype of disorder,[Malformation syndrome subtype],"Trichorhinophalangeal syndrome, type i",[Trps i],"Trichorhinophalangeal syndrome type I (TRPS1) is an autosomal dominant malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature (summary by {25:Momeni et al., 2000}).",[190350],[77258],[Trichorhinophalangeal syndrome type 1 and 3],[15017],,Trichorhinophalangeal syndrome type 1,TRUE,FALSE,Active +GARD:7801,Active,Orphanet,ORPHA:502,Disorder,[Malformation syndrome],Trichorhinophalangeal syndrome type 2,"[Deletion 8q24.1, Langer-Giedion syndrome, Monosomy 8q24.1]","A rare multiple congenital anomalies syndrome characterized by the association of intellectual disability and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped phalangeal epiphyses.",[150230],,,,,Trichorhinophalangeal syndrome type 2,TRUE,FALSE,Active +GARD:7802,Active,Orphanet+OMIM,OMIM:190351,Subtype of disorder,[Malformation syndrome subtype],"Trichorhinophalangeal syndrome, type iii",[Sugio-kajii syndrome],"Trichorhinophalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Craniofacial features include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose, protruding ears, long flat philtrum, and thin upper vermillion border. The most typical radiographic findings in TRPS are cone-shaped epiphyses, predominantly at the middle phalanges. Hip malformations such as coxa plana, coxa magna, or coxa vara are present in over 70% of patients. In older patients, the hip abnormalities resemble degenerative arthrosis. TRPS3 differs from TRPS1 by the presence of severe brachydactyly, due to short metacarpals, and severe short stature (summary by {2:Ludecke et al., 2001}).",[190351],[77258],[Trichorhinophalangeal syndrome type 1 and 3],[15017],,Trichorhinophalangeal syndrome type 3,TRUE,FALSE,Active +GARD:7803,Legacy,GARD,,,,,,,,,,,,Trichotillomania,FALSE,FALSE,Active +GARD:7805,Active,Orphanet,ORPHA:221091,Disorder,[Disease],Trigeminal neuralgia,,"A rare acquired peripheral neuropathy characterized by paroxysmal, sharp, stabbing, electric-shock-like orofacial pain, that is restricted to one or more of the trigeminal nerve divisions and mostly unilateral. Attacks are brief (few seconds to a maximum of two minutes), but typically occur repeatedly and periodically, can arise spontaneously or be triggered by innocuous stimuli, and are frequently accompanied by tic-like cramps of facial muscles. The condition affects women more often than men.",[190400],,,,,Trigeminal neuralgia,TRUE,FALSE,Active +GARD:781,Legacy,GARD,,,,,,,,,,,,Arthrogryposis epileptic seizures migrational brain disorder,TRUE,FALSE,Active +GARD:7815,Legacy,GARD,,,,,,,,,,,,Mosaic trisomy 6,TRUE,FALSE,Active +GARD:782,Legacy,GARD,,,,,,,,,,,,Arthrogryposis IUGR thoracic dystrophy,TRUE,FALSE,Active +GARD:7821,Legacy,GARD,,,,,,,,,,,,Chromosome 9q duplication,TRUE,FALSE,Active +GARD:7824,Legacy,GARD,,,,,,,,,,,,Tropical sprue,TRUE,FALSE,Active +GARD:7826,Active,Orphanet,ORPHA:3385,Disorder,[Disease],African trypanosomiasis,[Sleeping sickness],"A rare vector-borne parasitic disease caused by a protozoa of the Trypanosoma genus transmitted by the bite of a tsetse fly (genus Glossina), that is found under its chronic form (average duration of 3 years) in western and central Africa (in case of the T. brucei gambiense sub-species), and under its acute form (lasting from few weeks to 6 months) in eastern and southern Africa (in case of the T. brucei rhodesiense sub-species). HAT comprises an initial hemo-lymphatic stage characterized by fever, weakness, musculoskeletal pain, anemia, and lymphadenopathy, along with dermatologic, cardiac and endocrine complications or hepatosplenomegaly, followed by a meningo-encephalitic stage characterized by neurologic involvement (sleep disturbances, psychiatric disorders, seizures) that progresses, in the absence of treatment, towards a fatal meningoencephalitis.",,,,,,"Trypanosomiasis, Human East-African",TRUE,FALSE,Active +GARD:7827,Active,Orphanet,ORPHA:3389,Disorder,[Disease],Tuberculosis,,"Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.",[607948],,,,,Tuberculosis,TRUE,FALSE,Retired +GARD:7828,Active,Orphanet,ORPHA:499004,Disorder,[Disease],Tuberculous meningitis,"[TBM, Tubercular meningitis]","A rare bacterial infectious disease caused by Mycobacterium tuberculosis, characterized by a variable clinical picture comprising classic manifestations of meningitis, i. e. headache, fever, and stiff neck, in addition to cranial nerve palsies (most commonly III, VI, and VII), altered mental status, and seizures, among others. Basal meningeal enhancement in neuroimaging, cerebrospinal fluid abnormalities (moderate lymphocytic pleocytosis, moderately elevated protein concentration, low glucose), and a chest x-ray suggestive of pulmonary tuberculosis may support the diagnosis.",,,,,,Tuberculous meningitis,TRUE,FALSE,Active +GARD:7829,Legacy,GARD,,,,,,,,,,,,Tuberculous uveitis,TRUE,FALSE,Active +GARD:783,Legacy,GARD,,,,,,,,,,,,Arthrogryposis like disorder,TRUE,FALSE,Retired +GARD:7830,Active,Orphanet,ORPHA:805,Disorder,[Disease],Tuberous sclerosis complex,"[Bourneville syndrome, Tuberous sclerosis]","A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.","[191100, 613254]",,,,,Tuberous sclerosis complex,TRUE,FALSE,Active +GARD:7831,Active,Orphanet,ORPHA:881,Disorder,[Malformation syndrome],Turner syndrome,"[45,X syndrome, 45,X/46,XX syndrome]","A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities.",,,,,,Turner syndrome,TRUE,FALSE,Active +GARD:7833,Legacy,GARD,,,,,,,,,,,,Typhus,TRUE,FALSE,Active +GARD:7836,Legacy,GARD,,,,,,,,,,,,Urachal cancer,TRUE,FALSE,Active +GARD:7837,Active,Orphanet,ORPHA:79167,Group of disorders,[Category],Disorder of urea cycle metabolism and ammonia detoxification,,,,,,,,Urea cycle disorders,TRUE,FALSE,Active +GARD:784,Active,Orphanet,ORPHA:1144,Disorder,[Malformation syndrome],Arthrogryposis-like hand anomaly-sensorineural deafness syndrome,"[Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome, Distal arthrogryposis type 6]",A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.,[108200],,,,,Arthrogryposis-like hand anomaly and sensorineural deafness,TRUE,FALSE,Active +GARD:7842,Active,Orphanet,ORPHA:66646,Group of disorders,[Clinical group],Cutaneous mastocytosis,,"A rare group of mastocytosis diseases characterized by abnormal accumulation and proliferation of mast cells in the skin and including the three recognised forms: diffuse cutaneous mastocytosis, cutaneous mastocytoma and, the most common form, maculopapular cutaneous mastocytosis. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.",,,,,,Cutaneous mastocytosis,TRUE,FALSE,Active +GARD:7843,Active,Orphanet,ORPHA:886,Disorder,[Disease],Usher syndrome,"[Retinitis pigmentosa-deafness syndrome, Retinitis pigmentosa-hearing loss syndrome, USH]","A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction.","[602097, 614990, 500004, 602083, 611383, 612632, 614869, 276900, 606943, 276901, 276902, 276904, 605472, 601067, 614504]",,,,,Usher syndrome,TRUE,FALSE,Active +GARD:7845,Legacy,GARD,,,,,,,,,,,,Valinemia,TRUE,FALSE,Active +GARD:7846,Active,Orphanet+OMIM,OMIM:606713,Subtype of disorder,[Malformation syndrome subtype],Van der woude syndrome 2,,"Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome.\n\nFor a discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 ({119300}).",[606713],[888],[Van der Woude syndrome],[8414],,Van der Woude syndrome 2,TRUE,FALSE,Active +GARD:7848,Active,Orphanet,ORPHA:79473,Disorder,[Disease],Porphyria variegata,"[Protoporphyrinogen oxidase deficiency, Variegate porphyria]",Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.,[176200],,,,,Variegate porphyria,TRUE,FALSE,Active +GARD:785,Legacy,GARD,,,,,,,,,,,,Arthrogryposis multiplex congenita CNS calcification,TRUE,FALSE,Active +GARD:7851,Active,Orphanet,ORPHA:889,Disorder,[Disease],Cutaneous small vessel vasculitis,[Cutaneous hypersensitivity vasculitis],A small vessel vasculitis characterized by neutrophilic inflammation predominantly limited to the superficial cutaneous postcapillary venules and without systemic vasculitis or glomerulonephritis. Typical presentation is of unifocal or multifocal palpable purpura on the lower extremities.,,,,,,Hypersensitivity vasculitis,TRUE,FALSE,Active +GARD:7853,Legacy,GARD,,,,,,,,,,,,Ventricular septal defects,TRUE,FALSE,Active +GARD:7854,Active,Orphanet,ORPHA:70476,Disorder,[Disease],Vernal keratoconjunctivitis,[Spring catarrh],"A rare disorder of the anterior segment of the eye, characterized by a severe recurrent allergic reaction affecting the cornea and the conjunctiva. It presents with red eyes, ocular itching, photophobia, foreign body sensation, mucous discharge, blepharospasm, and blurring of vision. The symptoms are typically bilateral but may be asymmetric. Characteristic signs include conjunctival injection, giant papillae mostly on the upper tarsal conjunctiva (cobblestone appearance), limbal gelatinous infiltrates (Horner-Trantas dots), and variable corneal signs. The condition is more prevalent in hot climates and most commonly affects young boys.",,,,,,Vernal keratoconjunctivitis,TRUE,FALSE,Active +GARD:7855,Active,Orphanet,ORPHA:892,Disorder,[Disease],Von Hippel-Lindau disease,"[Familial cerebelloretinal angiomatosis, Lindau disease, VHL, Von Hippel-Lindau syndrome]","Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.",[193300],,,,,Von Hippel-Lindau disease,TRUE,FALSE,Active +GARD:7857,Active,Orphanet,ORPHA:158048,Disorder,[Particular clinical situation in a disease or syndrome],Hemophagocytic syndrome associated with an infection,"[IAHS, VAHS, Virus-associated hemophagocytic syndrome]",,,,,,,Virus associated hemophagocytic syndrome,TRUE,FALSE,Active +GARD:786,Active,Orphanet,ORPHA:97120,Group of disorders,[Clinical group],Distal arthrogryposis,,"A group of rare arthrogryposis syndromes characterized by congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.",,,,,,Distal arthrogryposis,TRUE,FALSE,Active +GARD:7860,Active,Orphanet,ORPHA:79445,Disorder,[Disease],Pseudopseudohypoparathyroidism,"[AHO-PPHP syndrome, Albright hereditary osteodystrophy-PPHP syndrome]","Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).",[612463],,,,,Pseudopseudohypoparathyroidism,TRUE,FALSE,Active +GARD:7862,Active,Orphanet,ORPHA:3437,Disorder,[Disease],Vogt-Koyanagi-Harada disease,[Uveomenigitic syndrome],"Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.",,,,,,Vogt-Koyanagi-Harada disease,TRUE,FALSE,Active +GARD:7864,Active,Orphanet,ORPHA:79258,Subtype of disorder,[Clinical subtype],Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,"[G6P deficiency type 1a, GSD due to G6P deficiency type 1a, GSD due to G6P deficiency type Ia, GSD type 1a, GSDIa, Glycogen storage disease due to G6P deficiency type Ia, Glycogen storage disease type 1a, Glycogenosis due to glucose-6-phosphatase deficiency type 1a, Glycogenosis due to glucose-6-phosphatase deficiency type Ia, Glycogenosis type Ia]","Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term).",[232200],,,,,Glycogen storage disease type 1A,TRUE,FALSE,Active +GARD:7866,Active,Orphanet,ORPHA:636,Disorder,[Disease],Neurofibromatosis type 1,"[NF1, Von Recklinghausen disease]","Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.","[162210, 162200, 613675]",,,,,Neurofibromatosis type 1,TRUE,FALSE,Active +GARD:7867,Active,Orphanet,ORPHA:903,Disorder,[Disease],Von Willebrand disease,[Hereditary von Willebrand disease],"A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2).","[314560, 277480, 613554, 193400]",,,,,Von Willebrand disease,FALSE,FALSE,Active +GARD:787,Active,Orphanet,ORPHA:1146,Disorder,[Malformation syndrome],Distal arthrogryposis type 1,"[DA1, Digitotalar dysmorphism]",A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.,"[619110, 108120, 618435, 614335, 126050]",,,,,Distal arthrogryposis type 1,TRUE,FALSE,Active +GARD:7871,Active,Orphanet,ORPHA:898,Disorder,[Disease],Wagner disease,"[Dominant hyaloideoretinal dystrophy of Wagner, VCAN-related vitreoretinopathy, Vitreoretinal degeneration, Wagner type, Wagner syndrome]","Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.",[143200],,,,,Wagner syndrome,TRUE,FALSE,Active +GARD:7872,Active,Orphanet,ORPHA:33226,Disorder,[Disease],Waldenström macroglobulinemia,,"Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.","[153600, 610430]",,,,,Waldenstrom macroglobulinemia,TRUE,FALSE,Active +GARD:7873,Active,Orphanet,ORPHA:90362,Disorder,[Disease],Primary intestinal lymphangiectasia,[Waldmann disease],"A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children.",[152800],,,,,Primary intestinal lymphangiectasia,TRUE,FALSE,Active +GARD:7875,Legacy,GARD,,,,,,,,,,,,Wallerian degeneration,TRUE,FALSE,Active +GARD:7876,Active,Orphanet,ORPHA:90033,Disorder,[Disease],"Autoimmune hemolytic anemia, warm type","[Warm AIHA, wAHA, wAIHA]",Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C).,,,,,,Warm antibody hemolytic anemia,TRUE,FALSE,Active +GARD:7877,Legacy,GARD,,,,,,,,,,,,Watermelon stomach,TRUE,FALSE,Active +GARD:7878,Active,Orphanet,ORPHA:3447,Disorder,[Malformation syndrome],Weaver syndrome,[Camptodactyly-overgrowth-unusual facies syndrome],"Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.","[617561, 277590, 618786]",,,,,Weaver syndrome,TRUE,FALSE,Active +GARD:7879,Active,Orphanet,ORPHA:33577,Disorder,[Disease],Nodular non-suppurative panniculitis,"[Idiopathic lobular panniculitis, Idiopathic nodular panniculitis, Pfeiffer-Weber-Christian syndrome, Relapsing febrile nodular nonsuppurative panniculitis, Relapsing febrile nodular panniculitis, WCD, Weber-Christian disease, Weber-Christian panniculitis]",A rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.,,,,,,Nodular nonsuppurative panniculitis,TRUE,FALSE,Active +GARD:788,Legacy,GARD,,,,,,,,,,,,Distal arthrogryposis type 2,TRUE,FALSE,Retired +GARD:7880,Active,Orphanet,ORPHA:900,Disorder,[Disease],Granulomatosis with polyangiitis,[GPA],"A rare anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis characterized by necrotizing inflammation of small and medium vessels (capillaries, venules and arterioles), resulting in tissue ischemia.",[608710],,,,,Granulomatosis with polyangiitis,TRUE,FALSE,Active +GARD:7881,Active,Orphanet,ORPHA:509,Disorder,[Disease],Leptospirosis,,Leptospirosis is an anthropozoonosis caused by spiral-shaped bacteria belonging to the genus Leptospira. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America.,,,,,,Leptospirosis,TRUE,FALSE,Active +GARD:7883,Active,Orphanet,ORPHA:83330,Subtype of disorder,[Clinical subtype],Proximal spinal muscular atrophy type 1,"[Infantile spinal muscular atrophy, Infantile-onset spinal muscular atrophy, SMA type 1, SMA type I, SMA-I, SMA1, Werdnig-Hoffmann disease]","A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of severe and progressive muscle weakness in the first 6 months of life and presenting with severe, generalized hypotonia and weakness,. Dysphagia and respiratory impairment may also be present at presentation or appear at a later stage. Classically, before the advent of recent therapies, type 1 patients never achieved sitting without support.",[253300],,,,,Spinal muscular atrophy 1,TRUE,FALSE,Active +GARD:7885,Active,Orphanet,ORPHA:902,Disorder,[Disease],Werner syndrome,"[Adult progeria, WS]","Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.",[277700],,,,,Werner syndrome,TRUE,FALSE,Active +GARD:7887,Active,Orphanet,ORPHA:3451,Disorder,[Clinical syndrome],Infantile spasms syndrome,[West syndrome],"A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome.","[616341, 613477, 618298, 615006, 308350, 617929, 617065, 613722, 616139, 300672]",,,,,West syndrome,TRUE,FALSE,Active +GARD:7888,Active,Orphanet,ORPHA:83593,Disorder,[Disease],Western equine encephalitis,[Western equine encephalomyelitis],"An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.",,,,,,Western equine encephalitis,TRUE,FALSE,Active +GARD:7889,Active,Orphanet,ORPHA:3452,Disorder,[Disease],Whipple disease,[Intestinal lipodystrophy],A rare chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (TW).,,,,,,Whipple disease,TRUE,FALSE,Active +GARD:7890,Active,Orphanet,ORPHA:3454,Disorder,[Malformation syndrome],Intellectual disability-developmental delay-contractures syndrome,"[Foot contractures-muscle atrophy-oculomotor apraxia syndrome, Wieacker-Wolff syndrome]","Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.",[314580],,,,,Intellectual disability-developmental delay-contractures syndrome,TRUE,FALSE,Active +GARD:7891,Active,Orphanet,ORPHA:904,Disorder,[Malformation syndrome],Williams syndrome,"[Deletion 7q11.23, Monosomy 7q11.23, Williams-Beuren syndrome]","A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia.",[194050],,,,,Williams syndrome,TRUE,FALSE,Active +GARD:7892,Active,Orphanet,ORPHA:654,Disorder,[Disease],Nephroblastoma,"[Renal embryonic tumor, Wilms tumor]","A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.","[194070, 601583, 194071, 616806, 194090, 601363]",,,,,Wilms' tumor,TRUE,FALSE,Active +GARD:7893,Active,Orphanet,ORPHA:905,Disorder,[Disease],Wilson disease,[Hepatolenticular degeneration],"A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body.",[277900],,,,,Wilson disease,TRUE,FALSE,Active +GARD:7894,Active,Orphanet+OMIM,OMIM:277950,Subtype of disorder,[Disease subtype],Winchester syndrome,,"Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; {259600}), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by {12:Zankl et al., 2007}).",[277950],[371428],[Multicentric osteolysis-nodulosis-arthropathy spectrum],[17610],,Winchester syndrome,TRUE,FALSE,Active +GARD:7895,Active,Orphanet,ORPHA:906,Disorder,[Disease],Wiskott-Aldrich syndrome,"[Eczema-thrombocytopenia-immunodeficiency syndrome, WAS]","A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.","[614493, 301000, 600903]",,,,,Wiskott Aldrich syndrome,TRUE,FALSE,Active +GARD:7896,Active,Orphanet,ORPHA:280,Disorder,[Malformation syndrome],Wolf-Hirschhorn syndrome,"[4p- syndrome, Distal deletion 4p, Distal monosomy 4p, Telomeric deletion 4p]","A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.",[194190],,,,,Wolf-Hirschhorn syndrome,TRUE,FALSE,Active +GARD:7897,Legacy,GARD,,,,,,,,,,,,Wolff-Parkinson-White syndrome,FALSE,FALSE,Active +GARD:7898,Active,Orphanet,ORPHA:3463,Disorder,[Disease],Wolfram syndrome,"[DIDMOAD syndrome, Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome, Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome]","A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.","[598500, 222300, 604928]",,,,,Wolfram syndrome,TRUE,FALSE,Active +GARD:7899,Active,Orphanet,ORPHA:75233,Subtype of disorder,[Clinical subtype],Wolman disease,,"A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting.",[278000],,,,,Wolman disease,TRUE,FALSE,Active +GARD:79,Active,Orphanet,ORPHA:33067,Disorder,[Disease],"Metaphyseal chondrodysplasia, Jansen type",,"A rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.",[156400],,,,,Jansen type metaphyseal chondrodysplasia,TRUE,FALSE,Active +GARD:790,Active,Orphanet,ORPHA:1143,Disorder,[Disease],Neurogenic arthrogryposis multiplex congenita,,A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.,[208100],,,,,Arthrogryposis multiplex congenita neurogenic type,TRUE,FALSE,Active +GARD:7900,Active,Orphanet,ORPHA:53719,Disorder,[Malformation syndrome],Wyburn-Mason syndrome,"[Bonnet-Dechaume-Blanc syndrome, CAMS2, Cerebrofacial arteriovenous metameric syndrome type 2]","Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.",,,,,,Wyburn-Mason syndrome,TRUE,FALSE,Active +GARD:7904,Active,Orphanet,ORPHA:461,Disorder,[Disease],Recessive X-linked ichthyosis,"[RXLI, Steroid sulfatase deficiency, X-linked ichthyosis, XLI]",Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.,"[300001, 308100]",,,,,X-linked ichthyosis,TRUE,FALSE,Active +GARD:7906,Active,Orphanet,ORPHA:538931,Disorder,[Disease],X-linked lymphoproliferative disease due to SH2D1A deficiency,"[SAP deficiency, SH2D1A/SLAM-associated protein deficiency, X-linked lymphoproliferative syndrome type 1, XLP1]","A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.",[308240],,,,,X-linked lymphoproliferative disease due to SH2D1A deficiency,TRUE,FALSE,Active +GARD:791,Legacy,GARD,,,,,,,,,,,,Arthrogryposis multiplex congenita pulmonary hypoplasia,TRUE,FALSE,Active +GARD:7910,Active,Orphanet,ORPHA:910,Disorder,[Disease],Xeroderma pigmentosum,,"Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).","[278720, 278700, 278740, 610651, 278780, 278730, 278760]",,,,,Xeroderma pigmentosum,TRUE,FALSE,Active +GARD:7913,Legacy,GARD,,,,,,,,,,,,Yaws,TRUE,FALSE,Active +GARD:7914,Active,Orphanet,ORPHA:99829,Disorder,[Disease],Yellow fever,"[Bronze John, YF, Yellow Jack]","Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.",,,,,,Yellow fever,TRUE,FALSE,Active +GARD:7917,Active,Orphanet,ORPHA:912,Disorder,[Disease],Zellweger syndrome,"[Cerebrohepatorenal syndrome, Severe PBD-ZSD, Severe peroxisome biogenesis disorder-Zellweger spectrum disorder, ZS]","A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.","[614870, 614882, 614886, 214100, 614872, 614887, 214110, 617370, 614876, 614883, 614862, 614859, 614866]",,,,,Zellweger syndrome,TRUE,FALSE,Active +GARD:7918,Active,Orphanet,ORPHA:913,Disorder,[Disease],Zollinger-Ellison syndrome,[Gastrinoma],Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.,,,,,,Zollinger-Ellison syndrome,TRUE,FALSE,Active +GARD:7919,Legacy,GARD,,,,,,,,,,,,Zuska's disease,TRUE,FALSE,Active +GARD:792,Active,Orphanet,ORPHA:1150,Disorder,[Malformation syndrome],Arthrogryposis multiplex congenita-whistling face syndrome,[Illum syndrome],"An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.",[208155],,,,,Arthrogryposis multiplex congenita whistling face,TRUE,FALSE,Active +GARD:7922,Active,Orphanet,ORPHA:98473,Group of disorders,[Category],Muscular dystrophy,,,,,,,,Muscular dystrophy,TRUE,FALSE,Active +GARD:794,Active,Orphanet,ORPHA:2697,Disorder,[Malformation syndrome],Arthrogryposis-renal dysfunction-cholestasis syndrome,[ARC syndrome],"A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.","[613404, 208085]",,,,,Arthrogryposis renal dysfunction cholestasis syndrome,TRUE,FALSE,Active +GARD:795,Legacy,GARD,,,,,,,,,,,,Arthrogryposis spinal muscular atrophy,TRUE,FALSE,Active +GARD:799,Legacy,GARD,,,,,,,,,,,,Ataxia telangiectasia variant V1,TRUE,FALSE,Retired +GARD:8,Legacy,GARD,,,,,,,,,,,,Agnosia,TRUE,FALSE,Active +GARD:80,Active,Orphanet,ORPHA:2315,Disorder,[Malformation syndrome],Johanson-Blizzard syndrome,[JBS],"Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.",[243800],,,,,Johanson-Blizzard syndrome,TRUE,FALSE,Active +GARD:801,Legacy,GARD,,,,,,,,,,,,Idiopathic double athetosis,TRUE,FALSE,Retired +GARD:802,Active,Orphanet,ORPHA:98722,Group of disorders,[Clinical group],Atrioventricular septal defect,"[AVSD, Atrioventricular canal defect]",,"[600309, 606215, 614430, 615779, 614474, 606217]",,,,,Atrioventricular septal defect,TRUE,FALSE,Active +GARD:804,Active,Orphanet,ORPHA:52,Disorder,[Malformation syndrome],Alagille syndrome,"[Alagille-Watson syndrome, Arteriohepatic dysplasia, Syndromic bile duct paucity]","A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.","[118450, 610205]",,,,,Alagille syndrome,TRUE,FALSE,Active +GARD:805,Legacy,GARD,,,,,,,,,,,,Brainstem auditory evoked responses,FALSE,FALSE,Retired +GARD:806,Active,Orphanet,ORPHA:2819,Disorder,[Malformation syndrome],Spastic paraplegia-facial-cutaneous lesions syndrome,[Bahemuka-Brown syndrome],A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.,,,,,,Spastic paraplegia facial cutaneous lesions,TRUE,FALSE,Active +GARD:807,Legacy,GARD,,,,,,,,,,,,BANF acoustic neurinoma,TRUE,FALSE,Retired +GARD:808,Legacy,GARD,,,,,,,,,,,,Baker Vinters syndrome,TRUE,FALSE,Active +GARD:809,Active,Orphanet,ORPHA:1223,Disorder,[Disease],Balantidiasis,"[Balantidiosis, Ciliary dysentery]","Balantidiasis is an infectious disease, rare in western countries. It is caused by Balantidium coli, a single celled parasite (ciliate protozoan) that is usually associated with intestinal infection in areas associated with pig rearing. It infects humans occasionally, mostly immunocompromised patients. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of other infections that cause intestinal inflammation, for example, amoebic dysentery. On very rare occasions this bacterium may invade extra-intestinal organs, mostly the lungs. Metronidazole is the treatment of choice.",,,,,,Balantidiasis,TRUE,FALSE,Active +GARD:81,Active,Orphanet+OMIM,OMIM:309590,Subtype of disorder,[Disease subtype],"Intellectual developmental disorder, x-linked, syndromic, turner type","[mental retardation and macrocephaly syndrome, mental retardation, x-linked, with growth retardation, deafness, and microgenitalism, juberg-marsidi syndrome, mental retardation, x-linked, syndromic, brooks-wisniewski-brown type, Mental retardation, x-linked, syndromic, turner type, brooks-wisniewski-brown syndrome]","Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a neurodevelopmental disorder with a highly variable phenotype. Some affected families show X-linked recessive inheritance, with only males being affected and carrier females having no abnormal findings. In other affected families, males are severely affected, and female mutation carriers show milder cognitive abnormalities or dysmorphic features. In addition, there are female patients with de novo mutations who show the full phenotype, despite skewed X-chromosome inactivation. Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by {8:Moortgat et al., 2018}).",[309590],[528084],[Non-specific syndromic intellectual disability],[17965],,Juberg Marsidi syndrome,TRUE,FALSE,Active +GARD:811,Legacy,GARD,,,,,,,,,,,,Balo disease,FALSE,FALSE,Retired +GARD:812,Active,Orphanet,ORPHA:1227,Disorder,[Malformation syndrome],Bangstad syndrome,[Ataxia-diabetes-goiter-gonadal insufficiency syndrome],"Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.",[210740],,,,,Bangstad syndrome,TRUE,FALSE,Active +GARD:813,Active,Orphanet,ORPHA:1228,Disorder,[Malformation syndrome],Banki syndrome,,"Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.",[109300],,,,,Banki syndrome,TRUE,FALSE,Active +GARD:815,Legacy,GARD,,,,,,,,,,,,Baraitser Brett Piesowicz syndrome,TRUE,FALSE,Retired +GARD:8155,Legacy,GARD,,,,,,,,,,,,4-hydroxyphenylacetic aciduria,TRUE,FALSE,Active +GARD:8156,Legacy,GARD,,,,,,,,,,,,Adenomyosis,FALSE,FALSE,Active +GARD:8157,Legacy,GARD,,,,,,,,,,,,Anthrax,TRUE,FALSE,Active +GARD:8158,Legacy,GARD,,,,,,,,,,,,Cutaneous anthrax,TRUE,FALSE,Active +GARD:816,Active,Orphanet,ORPHA:2753,Disorder,[Malformation syndrome],Orofaciodigital syndrome type 4,"[Baraitser-Burn syndrome, Mohr-Majewski syndrome, OFD4, Oral-facial-digital syndrome type 4]","Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.",[258860],,,,,Orofaciodigital syndrome 4,TRUE,FALSE,Active +GARD:8160,Legacy,GARD,,,,,,,,,,,,Hutchinson incisors,TRUE,FALSE,Active +GARD:8162,Legacy,GARD,,,,,,,,,,,,Myxozoa,TRUE,FALSE,Active +GARD:8165,Legacy,GARD,,,,,,,,,,,,Megalocytic interstitial nephritis,TRUE,FALSE,Active +GARD:8167,Legacy,GARD,,,,,,,,,,,,Palmoplantar keratoderma,TRUE,FALSE,Active +GARD:8168,Legacy,GARD,,,,,,,,,,,,Pontoneocerebellar Hypoplasia,TRUE,FALSE,Retired +GARD:8169,Active,Orphanet,ORPHA:238593,Subtype of disorder,[Clinical subtype],IgG4-related mesenteritis,"[Isolated mesenteric lipodystrophy, Lipomatous mesenteritis, Liposclerotic mesenteritis, Mesenteric lipogranuloma, Mesenteric panniculitis, Sclerosing mesenteritis]","Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).",,,,,,Sclerosing mesenteritis,TRUE,FALSE,Active +GARD:817,Legacy,GARD,,,,,,,,,,,,Baraitser Rodeck Garner syndrome,TRUE,FALSE,Retired +GARD:8170,Legacy,GARD,,,,,,,,,,,,Severe infantile axonal neuropathy,TRUE,FALSE,Active +GARD:8171,Legacy,GARD,,,,,,,,,,,,Candida glabrata,TRUE,FALSE,Active +GARD:8172,Legacy,GARD,,,,,,,,,,,,Transient global amnesia,TRUE,FALSE,Active +GARD:8173,Active,Orphanet,ORPHA:15,Disorder,[Disease],Achondroplasia,,"A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.",[100800],,,,,Achondroplasia,TRUE,FALSE,Active +GARD:8174,Active,Orphanet,ORPHA:1547,Disorder,[Malformation syndrome],Cryptomicrotia-brachydactyly-excess fingertip arch syndrome,"[Cryptomicrotia-brachydactyly syndrome, Tonoki-Ohura-Niikawa syndrome]","A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.",[123560],,,,,Cryptomicrotia brachydactyly syndrome,TRUE,FALSE,Active +GARD:8176,Legacy,GARD,,,,,,,,,,,,Achard syndrome,TRUE,FALSE,Active +GARD:8177,Legacy,GARD,,,,,,,,,,,,Basedow's coma,TRUE,FALSE,Active +GARD:8178,Active,Orphanet+OMIM,OMIM:604379,Subtype of disorder,[Disease subtype],Hypotrichosis 7,"[hypotrichosis, autosomal recessive, hypotrichosis, total, mari type, Hypotrichosis, localized, autosomal recessive 2]",,[604379],"[170, 55654]","[Hypotrichosis simplex, Woolly hair]","[9170, 5597]",,"Total Hypotrichosis, Mari type",TRUE,FALSE,Active +GARD:8180,Legacy,GARD,,,,,,,,,,,,Punctate porokeratosis,TRUE,FALSE,Active +GARD:8182,Active,Orphanet,ORPHA:3250,Disorder,[Malformation syndrome],Proximal symphalangism,"[Symphalangism, Cushing type]","Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.","[185800, 615298]",,,,,Proximal symphalangism,TRUE,FALSE,Active +GARD:8184,Legacy,GARD,,,,,,,,,,,,"Ossicular Malformations, familial",TRUE,FALSE,Active +GARD:8189,Active,Orphanet,ORPHA:2445,Group of disorders,[Category],Conotruncal heart malformations,,"A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).",[217095],,,,,Conotruncal heart malformations,TRUE,FALSE,Active +GARD:819,Active,Orphanet,ORPHA:1231,Disorder,[Malformation syndrome],Barber-Say syndrome,[Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome],"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.",[209885],,,,,Barber Say syndrome,TRUE,FALSE,Active +GARD:8192,Legacy,GARD,,,,,,,,,,,,Uveal diseases,TRUE,FALSE,Active +GARD:8194,Active,Orphanet,ORPHA:1560,Disorder,[Disease],Cysticercosis,,"Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.",,,,,,Cysticercosis,TRUE,FALSE,Active +GARD:8195,Active,Orphanet,ORPHA:76,Disorder,[Disease],Strongyloidiasis,"[Anguilluliasis, Anguillulosis]",A parasitosis caused by the intestinal nematode Strongyloides stercoralis (round worm).,,,,,,Strongyloidiasis,TRUE,FALSE,Active +GARD:8196,Legacy,GARD,,,,,,,,,,,,Spirurida Infections,TRUE,FALSE,Active +GARD:8197,Active,Orphanet,ORPHA:819,Disorder,[Malformation syndrome],Smith-Magenis syndrome,[17p11.2 microdeletion syndrome],"A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal).",[182290],,,,,Smith-Magenis syndrome,TRUE,FALSE,Active +GARD:8198,Active,Orphanet,ORPHA:39041,Disorder,[Disease],Omenn syndrome,[Combined immunodeficiency with hypereosinophilia],"Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).",[603554],,,,,Omenn syndrome,TRUE,FALSE,Active +GARD:8199,Legacy,GARD,,,,,,,,,,,,"Acute myeloid leukemia, childhood",TRUE,FALSE,Retired +GARD:82,Active,Orphanet,ORPHA:2332,Disorder,[Malformation syndrome],KBG syndrome,[Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome],"A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities.",[148050],,,,,KBG syndrome,TRUE,FALSE,Active +GARD:820,Active,Orphanet+OMIM,OMIM:209900,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 1,,"Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by {5:Beales et al., 1999}). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by {52:Scheidecker et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Bardet-Biedl Syndrome\n\nBBS1 is caused by mutation in a gene on chromosome 11q13 ({209901}); BBS2 ({615981}), by mutation in a gene on 16q13 ({606151}); BBS3 ({600151}), by mutation in the ARL6 gene on 3q11 ({608845}); BBS4 ({615982}), by mutation in a gene on 15q22 ({600374}); BBS5 ({615983}), by mutation in a gene on 2q31 ({603650}); BBS6 ({605231}), by mutation in the MKKS gene on 20p12 ({604896}); BBS7 ({615984}), by mutation in a gene on 4q27 ({607590}); BBS8 ({615985}), by mutation in the TTC8 gene on 14q32 ({608132}); BBS9 ({615986}), by mutation in a gene on 7p14 ({607968}); BBS10 ({615987}), by mutation in a gene on 12q21 ({610148}); BBS11 ({615988}), by mutation in the TRIM32 gene on 9q33 ({602290}); BBS12 ({615989}), by mutation in a gene on 4q27 ({610683}); BBS13 ({615990}), by mutation in the MKS1 gene ({609883}) on 17q23; BBS14 ({615991}), by mutation in the CEP290 gene ({610142}) on 12q21, BBS15 ({615992}), by mutation in the WDPCP gene ({613580}) on 2p15; BBS16 ({615993}), by mutation in the SDCCAG8 gene ({613524}) on 1q43; BBS17 ({615994}), by mutation in the LZTFL1 gene ({606568}) on 3p21; BBS18 ({615995}), by mutation in the BBIP1 gene ({613605}) on 10q25; BBS19 ({615996}), by mutation in the IFT27 gene ({615870}) on 22q12; BBS20 ({619471}), by mutation in the IFT172 gene ({607386}) on 9p21; BBS21 ({617406}), by mutation in the CFAP418 gene ({614477}) on 8q22; and BBS22 ({617119}), by mutation in the IFT74 gene ({608040}) on 9p21.\n\nThe CCDC28B gene ({610162}) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; {609884}), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.\n\nAlthough BBS had originally been thought to be a recessive disorder, {33:Katsanis et al. (2001)} demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While {33:Katsanis et al. (2001)} called this 'triallelic inheritance,' {10:Burghes et al. (2001)} suggested the term 'recessive inheritance with a modifier of penetrance.' {47:Mykytyn et al. (2002)} found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, {21:Fan et al. (2004)} found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).\n\nAllelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 ({613464}), caused by TTC8 mutation, and RP55 ({613575}), caused by ARL6 mutation.",[209900],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 1,TRUE,FALSE,Active +GARD:8200,Legacy,GARD,,,,,,,,,,,,Secernentea Infections,TRUE,FALSE,Active +GARD:8203,Legacy,GARD,,,,,,,,,,,,Rhabditida Infections,TRUE,FALSE,Active +GARD:8204,Active,Orphanet,ORPHA:761,Disorder,[Disease],Immunoglobulin A vasculitis,"[Anaphylactoid purpura, Henoch-Schönlein purpura, IgA vasculitis, Purpura rheumatica, Rheumatoid purpura]","A rare, small-vessel vasculitis characterized by skin purpura, arthritis, abdominal and/or renal involvement, IgA tissue deposits (arterioles, capillaries, and venules) and circulating IgA immune complexes.",,,,,,Henoch-Schonlein purpura,TRUE,FALSE,Active +GARD:8206,Active,Orphanet,ORPHA:1023,Subtype of disorder,[Clinical subtype],"Congenital generalized hypertrichosis, Ambras type",[Ambras syndrome],"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.",[145701],,,,,Ambras syndrome,TRUE,FALSE,Active +GARD:8207,Active,Orphanet,ORPHA:251912,Disorder,[Disease],Pineocytoma,,"Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.",,,,,,Pineocytoma,TRUE,FALSE,Active +GARD:8208,Active,Orphanet,ORPHA:289326,Disorder,[Disease],Tropical spastic paraparesis,"[HAM/TSP, HTLV-1-associated myelopathy/tropical spastic paraparesis, Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis, Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis, TSP]","Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.",[159580],,,,,HTLV-1 associated myelopathy/tropical spastic paraparesis,TRUE,FALSE,Active +GARD:821,Active,Orphanet+OMIM,OMIM:615981,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 2,,"BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment ({4:Innes et al., 2010}). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases ({11:Zaghloul and Katsanis, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615981],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 2,TRUE,FALSE,Active +GARD:8211,Legacy,GARD,,,,,,,,,,,,Neurofibrosarcoma,TRUE,FALSE,Active +GARD:8214,Active,Orphanet,ORPHA:501,Disorder,[Disease],Lafora disease,"[EPM2, PME type 2, Progressive myoclonic epilepsy type 2, Progressive myoclonus epilepsy type 2]","A rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.",[254780],,,,,Lafora disease,TRUE,FALSE,Active +GARD:8215,Legacy,GARD,,,,,,,,,,,,Mondini dysplasia,TRUE,FALSE,Active +GARD:8216,Active,Orphanet,ORPHA:2459,Disorder,[Disease],Mansonelliasis,[Mansonellosis],"A form of filariasis, distributed throughout sub-Saharan Africa as well as in some locations of Central and South America and the Caribbean, caused by the parasitic worms Mansonella perstans and Mansonella ozzardi. The disease is often asymptomatic but may also cause fever, vertigo, myalgias, arthralgias and a sensation of coldness in the legs. Additional features include neuropsychiatric symptoms, skin rash, pruritus, nodules containing adult worms (in the conjunctiva or eyelids), lymphadenopathy, recurrent lymphedema in the limbs and face (resembling the Calabar swellings of loasis), severe abdominal pain and endocrine disturbances.",,,,,,Mansonelliasis,TRUE,FALSE,Active +GARD:8217,Legacy,GARD,,,,,,,,,,,,"Lymphoma, small cleaved-cell, follicular",TRUE,FALSE,Retired +GARD:8218,Legacy,GARD,,,,,,,,,,,,"Lymphoma, small cleaved-cell, diffuse",TRUE,FALSE,Retired +GARD:8219,Legacy,GARD,,,,,,,,,,,,"Lymphoma, large-cell, immunoblastic",TRUE,FALSE,Active +GARD:822,Active,Orphanet+OMIM,OMIM:600151,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 3,,"BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise ({8:Young et al., 1998}; {5:Ghadami et al., 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[600151],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 3,TRUE,FALSE,Active +GARD:8220,Legacy,GARD,,,,,,,,,,,,"Lymphoma, large-cell",TRUE,FALSE,Retired +GARD:8221,Legacy,GARD,,,,,,,,,,,,Lymphoma AIDS related,TRUE,FALSE,Active +GARD:8223,Active,Orphanet,ORPHA:86852,Disorder,[Disease],B-cell prolymphocytic leukemia,[B-PLL],"A rare mature B-cell neoplasm characterized by clonal proliferation of B-cell prolymphocytes, with prolymphocytes constituting more than 55% of lymphoid cells in peripheral blood. IG genes are clonally rearranged. Neoplastic cells are present in the bone marrow, peripheral blood, and spleen. Patients usually present with B symptoms, massive splenomegaly but absent or minimal lymphadenopathy, rapidly increasing lymphocyte count, anemia, and thrombocytopenia. Therapy response is poor.",,,,,,B cell prolymphocytic leukemia,TRUE,FALSE,Active +GARD:8224,Legacy,GARD,,,,,,,,,,,,"Leukemia, T-cell, chronic",TRUE,FALSE,Active +GARD:8225,Active,Orphanet,ORPHA:98823,Disorder,[Disease],Chronic myelomonocytic leukemia,[CMML],"A rare myelodysplastic/myeloproliferative neoplasm characterized by a spectrum of clinical, hematological, and morphological features, ranging from predominantly myelodysplastic to mainly myeloproliferative in nature. Infiltration of the liver, spleen, lymph nodes, and other organs is common. Persistent peripheral blood monocytosis with monocytes accounting for more than 10% of leukocytes is the hallmark of the condition. Blasts constitute less than 20% of the cells in the peripheral blood and bone marrow. Other abnormalities are variable. Patients may present with constitutional symptoms, signs and symptoms of hematopoietic insufficiency, and hepatosplenomegaly. The disease is associated with a risk of transformation to acute myeloid leukemia.",,,,,,Chronic myelomonocytic leukemia,TRUE,FALSE,Active +GARD:8226,Legacy,GARD,,,,,,,,,,,,Myeloid leukemia,TRUE,FALSE,Active +GARD:8227,Legacy,GARD,,,,,,,,,,,,"Leukemia, B-cell, chronic",TRUE,FALSE,Retired +GARD:8229,Legacy,GARD,,,,,,,,,,,,Portal hypertension,FALSE,FALSE,Active +GARD:823,Active,Orphanet+OMIM,OMIM:615982,Subtype of disorder,[Disease subtype],Bardet-biedl syndrome 4,,"BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS ({4:Katsanis et al., 2002}). Anosmia has been described in patients with BBS4 ({3:Iannaccone et al., 2005}), as well as polydactyly confined to the hands ({1:Carmi et al., 1995}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900}).",[615982],[110],[Bardet-Biedl syndrome],[6866],,Bardet-Biedl syndrome 4,TRUE,FALSE,Active +GARD:8230,Legacy,GARD,,,,,,,,,,,,Homocysteinemia,TRUE,FALSE,Active +GARD:8231,Active,Orphanet,ORPHA:157987,Group of disorders,[Clinical group],Non-Langerhans cell histiocytosis,,,,,,,,Non-Langerhans-Cell Histiocytosis,TRUE,FALSE,Active +GARD:8232,Active,Orphanet,ORPHA:252054,Disorder,[Disease],Hemangioblastoma,,"Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL; see this term). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.",,,,,,Hemangioblastoma,TRUE,FALSE,Active +GARD:8233,Active,Orphanet,ORPHA:355,Disorder,[Disease],Gaucher disease,"[Acid beta-glucosidase deficiency, Glucocerebrosidase deficiency]","Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).","[230900, 231005, 230800, 610539, 608013, 231000]",,,,,Gaucher disease,TRUE,FALSE,Active +GARD:8234,Active,Orphanet,ORPHA:47612,Disorder,[Disease],Felty syndrome,[Splenomegaly-neutropenia-rheumatoid arthritis syndrome],"Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.",[134750],,,,,Felty's syndrome,TRUE,FALSE,Active +GARD:8235,Legacy,GARD,,,,,,,,,,,,Esotropia,TRUE,FALSE,Active +GARD:8236,Legacy,GARD,,,,,,,,,,,,Drug induced dyskinesia,FALSE,FALSE,Active +GARD:8238,Active,Orphanet,ORPHA:251899,Disorder,[Disease],Choroid plexus carcinoma,,"Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.",[260500],,,,,Choroid plexus carcinoma,TRUE,FALSE,Active +GARD:824,Active,Orphanet,ORPHA:572,Disorder,[Disease],Immunodeficiency by defective expression of MHC class II,"[Bare lymphocyte syndrome type 2, MHC class II deficiency]","A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.",[209920],,,,,Bare lymphocyte syndrome 2,TRUE,FALSE,Active +GARD:8240,Active,Orphanet+OMIM,OMIM:145300,Subtype of disorder,[Disease subtype],"Hypersensitivity pneumonitis, familial",,"From Australia, {1:Allen et al. (1975)} described 2 families in each of which the father had hypersensitivity pneumonitis due to exposure to avian antigens. Two sons in 1 family and 2 sons and a daughter in a second family were similarly affected. Both families kept pigeons and budgerigars. HLA typing to detect possible linkage to immune response gene(s) ({146880}) seemed inconclusive. The possibility that hexachlorobenzene, used by both families for eradication of mites, might have damaged the bronchial mucosa or acted as an immunologic adjuvant was considered.",[145300],[99908],[Pigeon-breeder lung disease],[16924],,Familial hypersensitivity pneumonitis,TRUE,FALSE,Retired +GARD:8241,Active,Orphanet,ORPHA:158029,Disorder,[Disease],Sea-blue histiocytosis,,,[269600],,,,,Sea-Blue histiocytosis,TRUE,FALSE,Active +GARD:8242,Legacy,GARD,,,,,,,,,,,,5-Nucleotidase syndrome,TRUE,FALSE,Active +GARD:8244,Legacy,GARD,,,,,,,,,,,,Brain stem cancer,TRUE,FALSE,Active +GARD:8246,Legacy,GARD,,,,,,,,,,,,Auditory processing disorder,FALSE,FALSE,Draft +GARD:8249,Active,Orphanet,ORPHA:75564,Disorder,[Disease],Acquired idiopathic sideroblastic anemia,"[AISA, Primary acquired sideroblastic anemia, RARS, Refractory anemia with ringed sideroblasts]","A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.",,,,,,Sideroblastic anemia pyridoxine-refractory autosomal recessive,TRUE,FALSE,Active +GARD:825,Legacy,GARD,,,,,,,,,,,,Barnicoat Baraitser syndrome,TRUE,FALSE,Active +GARD:8250,Legacy,GARD,,,,,,,,,,,,AIDS Dementia Complex,TRUE,FALSE,Active +GARD:8252,Legacy,GARD,,,,,,,,,,,,Hyperadrenalism,TRUE,FALSE,Active +GARD:8254,Active,Orphanet,ORPHA:319266,Disorder,[Disease],Omsk hemorrhagic fever,,"Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.",,,,,,Omsk hemorrhagic fever,TRUE,FALSE,Active +GARD:8257,Active,Orphanet,ORPHA:319254,Disorder,[Disease],Kyasanur forest disease,"[Kyasanur hemorrhagic fever, Monkey disease, Monkey fever]","A rare infectious disease caused by the kyasanura forest disease virus and clinically characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.",,,,,,Kyasanur Forest disease,TRUE,FALSE,Active +GARD:8258,Legacy,GARD,,,,,,,,,,,,Mediastinal endodermal sinus tumors,TRUE,FALSE,Active +GARD:8259,Active,Orphanet,ORPHA:54028,Disorder,[Disease],Plummer-Vinson syndrome,"[Kelly-Paterson syndrome, Sideropenic dysphagia]","Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.",,,,,,Plummer Vinson syndrome,TRUE,FALSE,Active +GARD:826,Active,Orphanet,ORPHA:1826,Disorder,[Disease],Frontometaphyseal dysplasia,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.","[305620, 617137]",,,,,Frontometaphyseal dysplasia,TRUE,FALSE,Active +GARD:8265,Legacy,GARD,,,,,,,,,,,,Arakawa's syndrome 2,TRUE,FALSE,Retired +GARD:8267,Legacy,GARD,,,,,,,,,,,,Morel's ear,TRUE,FALSE,Retired +GARD:8270,Active,Orphanet,ORPHA:2349,Disorder,[Disease],Muscular pseudohypertrophy-hypothyroidism syndrome,"[Hoffmann syndrome, Kocher-Debré-Semelaigne syndrome]","Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term).",,,,,,Kocher-Debre-Semelaigne syndrome,TRUE,FALSE,Active +GARD:8273,Legacy,GARD,,,,,,,,,,,,Mutagen sensitivity,TRUE,FALSE,Active +GARD:8275,Active,Orphanet,ORPHA:50943,Disorder,[Disease],Keratolytic winter erythema,"[Erythrokeratolysis hiemalis, Oudtshoorn disease]","Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.",[148370],,,,,Keratolytic winter erythema,TRUE,FALSE,Active +GARD:8276,Legacy,GARD,,,,,,,,,,,,De Sanctis-Cacchione syndrome,TRUE,FALSE,Active +GARD:8278,Legacy,GARD,,,,,,,,,,,,"Cataract, congenital, with microcornea or slight microphthalmia",TRUE,FALSE,Active +GARD:8280,Legacy,GARD,,,,,,,,,,,,Dupuytren subungual exostosis,TRUE,FALSE,Active +GARD:8282,Active,Orphanet,ORPHA:85450,Disorder,[Disease],Hereditary amyloidosis with primary renal involvement,"[Amyloidosis, Ostertag type, Familial amyloid nephropathy, Familial renal amyloidosis, Hereditary amyloid nephropathy, Hereditary renal amyloidosis]","A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.",[105200],,,,,Amyloidosis familial visceral,TRUE,FALSE,Active +GARD:8283,Active,Orphanet+OMIM,OMIM:606129,Subtype of disorder,[Disease subtype],Diamond-blackfan anemia 2,,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {2:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).",[606129],[124],[Blackfan-Diamond anemia],[6274],,Diamond-Blackfan anemia 2,TRUE,FALSE,Active +GARD:8291,Legacy,GARD,,,,,,,,,,,,Egg shaped pupils,TRUE,FALSE,Active +GARD:8295,Active,Orphanet,ORPHA:1460,Disorder,[Disease],Isolated complex III deficiency,"[Isolated CoQ-cytochrome C reductase deficiency, Isolated coenzyme Q-cytochrome C reductase deficiency, Isolated mitochondrial respiratory chain complex III deficiency, Isolated ubiquinone-cytochrome C reductase deficiency]","Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).","[615160, 615157, 124000, 616111, 615158, 615159, 615838, 615453, 615824, 618775]",,,,,Mitochondrial complex III deficiency,TRUE,FALSE,Active +GARD:83,Active,Orphanet,ORPHA:93325,Subtype of disorder,[Etiological subtype],Autosomal dominant Kenny-Caffey syndrome,,"A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal.",[127000],,,,,Kenny-Caffey syndrome type 2,TRUE,FALSE,Active +GARD:830,Legacy,GARD,,,,,,,,,,,,Bartter syndrome antenatal type 1,TRUE,FALSE,Active +GARD:8309,Active,Orphanet,ORPHA:988,Disorder,[Malformation syndrome],Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,"[Absent tibia-polydactyly syndrome, Werner mesomelic spectrum]","Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.",[188740],,,,,Absence of tibia with polydactyly,TRUE,FALSE,Active +GARD:831,Legacy,GARD,,,,,,,,,,,,Basal cell nevus anodontia abnormal bone mineralization,TRUE,FALSE,Retired +GARD:8310,Active,Orphanet,ORPHA:273,Disorder,[Disease],Steinert myotonic dystrophy,"[Myotonic dystrophy type 1, Steinert disease]","A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.",[160900],,,,,Myotonic dystrophy type 1,TRUE,FALSE,Active +GARD:8311,Legacy,GARD,,,,,,,,,,,,"Cardiomyopathy, fatal fetal, due to myocardial calcification",TRUE,FALSE,Active +GARD:8312,Active,Orphanet,ORPHA:52530,Disorder,[Disease],Pseudo-von Willebrand disease,"[PT-VWD, Platelet type-von Willebrand disease, Pseudo-von Willebrand disease type 2B]","A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.",[177820],,,,,Pseudo-Von Willebrand disease,TRUE,FALSE,Active +GARD:8313,Legacy,GARD,,,,,,,,,,,,Angiomyomatous Hamartoma,TRUE,FALSE,Active +GARD:8317,Active,Orphanet,ORPHA:98289,Group of disorders,[Category],Dendritic cell tumor,,,,,,,,Dendritic cell tumor,TRUE,FALSE,Active +GARD:8320,Legacy,GARD,,,,,,,,,,,,Mosaic monosomy 22,TRUE,FALSE,Active +GARD:8322,Legacy,GARD,,,,,,,,,,,,Diabetic mastopathy,TRUE,FALSE,Active +GARD:8324,Legacy,GARD,,,,,,,,,,,,Swyer-James syndrome,TRUE,FALSE,Active +GARD:8325,Legacy,GARD,,,,,,,,,,,,Trisomy 11 mosaicism,TRUE,FALSE,Active +GARD:8326,Legacy,GARD,,,,,,,,,,,,Yusho Disease,TRUE,FALSE,Active +GARD:8329,Active,Orphanet,ORPHA:56304,Disorder,[Malformation syndrome],Atelosteogenesis type II,"[AO2, AOII, Atelosteogenesis type 2, De la Chapelle dysplasia, Neonatal osseous dysplasia type 1]","A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.",[256050],,,,,Atelosteogenesis type 2,TRUE,FALSE,Active +GARD:833,Legacy,GARD,,,,,,,,,,,,Basaran Yilmaz syndrome,TRUE,FALSE,Active +GARD:8331,Active,Orphanet,ORPHA:52368,Disorder,[Disease],Mohr-Tranebjaerg syndrome,"[DDON syndrome, Deafness-dystonia-optic neuronopathy syndrome, Hearing loss-dystonia-optic neuronopathy syndrome]","An X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.",[304700],,,,,Mohr-Tranebjaerg syndrome,TRUE,FALSE,Active +GARD:8333,Active,Orphanet,ORPHA:69739,Disorder,[Disease],Athabaskan brainstem dysgenesis syndrome,"[ABSD, Athabascan brainstem dysgenesis syndrome, Navajo brainstem syndrome]","A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.",[601536],,,,,Human HOXA1 Syndromes,TRUE,FALSE,Active +GARD:8334,Active,Orphanet,ORPHA:98902,Disorder,[Disease],Amish nemaline myopathy,,A type of nemaline myopathy (NM) only observed in several families of the Amish community.,[605355],,,,,Amish Nemaline Myopathy,TRUE,FALSE,Active +GARD:8335,Legacy,GARD,,,,,,,,,,,,Nemaline myopathy 2,TRUE,FALSE,Retired +GARD:8336,Legacy,GARD,,,,,,,,,,,,Neurofibromatosis type 4,TRUE,FALSE,Retired +GARD:8337,Active,Orphanet,ORPHA:63999,Subtype of disorder,[Clinical subtype],IgG4-related mediastinitis,"[Fibrosing mediastinitis, Mediastinal fibrosis, Sclerosing mediastinitis]","A rare systemic autoimmune disease characterized by an aggressive fibroinflammatory process with infiltration of IgG4-positive plasma cells in the mediastinum, potentially resulting in compression and functional impairment of vital mediastinal structures, and associated with elevated serum IgG4. Clinical symptoms are unspecific and include pain or symptoms due to mass effect. The condition may occur together with IgG4-related disease in other parts of the body.",,,,,,Fibrosing mediastinitis,TRUE,FALSE,Active +GARD:8338,Active,Orphanet,ORPHA:42775,Disorder,[Malformation syndrome],PHACE syndrome,"[PHACES syndrome, Pascual-Castroviejo syndrome type 2]","PHACE is an acronym used to describe a syndrome characterised by the association of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.","[140850, 606519]",,,,,PHACE syndrome,TRUE,FALSE,Active +GARD:8341,Active,Orphanet,ORPHA:559,Disorder,[Disease],Marinesco-Sjögren syndrome,,"Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.",[248800],,,,,Marinesco-Sjogren syndrome,TRUE,FALSE,Active +GARD:8343,Active,Orphanet,ORPHA:168544,Disorder,[Disease],"Spondylometaphyseal dysplasia, Golden type",[X-linked spondylometaphyseal dysplasia],"Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.",[313420],,,,,Spondylometaphyseal dysplasia X-linked,TRUE,FALSE,Active +GARD:8344,Active,Orphanet,ORPHA:97345,Subtype of disorder,[Clinical subtype],ABri amyloidosis,"[Familial dementia, British type]","A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.",[176500],,,,,ABri amyloidosis,TRUE,FALSE,Active +GARD:8345,Active,Orphanet,ORPHA:220436,Disorder,[Disease],Quebec platelet disorder,[Factor V Quebec],"A rare platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.",[601709],,,,,Quebec platelet disorder,TRUE,FALSE,Active +GARD:8346,Legacy,GARD,,,,,,,,,,,,"Albinism, minimal pigment type",TRUE,FALSE,Retired +GARD:8348,Legacy,GARD,,,,,,,,,,,,Pulmonary edema of mountaineers,TRUE,FALSE,Active +GARD:8349,Active,Orphanet,ORPHA:100033,Subtype of disorder,[Clinical subtype],Hypomaturation amelogenesis imperfecta,[Amelogenesis imperfecta type 2],,"[615887, 612529, 614832, 617217, 301200, 613211, 204700]",,,,,Amelogenesis imperfecta hypomaturation type,TRUE,FALSE,Active +GARD:835,Active,Orphanet,ORPHA:1875,Disorder,[Disease],Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,[Bassoe syndrome],"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.",[254000],,,,,Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,TRUE,FALSE,Active +GARD:8355,Legacy,GARD,,,,,,,,,,,,Kaolin pneumoconiosis,TRUE,FALSE,Active +GARD:8356,Legacy,GARD,,,,,,,,,,,,Coal worker's pneumoconiosis,TRUE,FALSE,Active +GARD:8357,Legacy,GARD,,,,,,,,,,,,Aluminosis,TRUE,FALSE,Active +GARD:8358,Legacy,GARD,,,,,,,,,,,,Shaver disease,TRUE,FALSE,Retired +GARD:8359,Legacy,GARD,,,,,,,,,,,,Graphite Pneumoconiosis,TRUE,FALSE,Active +GARD:836,Active,Orphanet,ORPHA:1948,Disorder,[Malformation syndrome],Epilepsy-microcephaly-skeletal dysplasia syndrome,[Battaglia-Neri syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996.",[601352],,,,,Battaglia-Neri syndrome,TRUE,FALSE,Active +GARD:8360,Active,Orphanet,ORPHA:85332,Disorder,[Disease],X-linked intellectual disability-retinitis pigmentosa syndrome,"[Aldred syndrome, Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion, Retinitis pigmentosa and intellectual disability due to del(X)(p11.3), Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3]","X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.",[300578],,,,,Aldred syndrome,TRUE,FALSE,Active +GARD:8367,Active,Orphanet,ORPHA:93324,Subtype of disorder,[Etiological subtype],Autosomal recessive Kenny-Caffey syndrome,,"A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia.",[244460],,,,,Kenny-Caffey syndrome type 1,TRUE,FALSE,Active +GARD:8368,Legacy,GARD,,,,,,,,,,,,"Granulomas, congenital cerebral",TRUE,FALSE,Active +GARD:8370,Active,Orphanet,ORPHA:70472,Disorder,[Disease],"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type","[COX deficiency, French-Canadian type, Cytochrome C oxidase deficiency, French-Canadian type, Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type, Leigh syndrome, French-Canadian type, Leigh syndrome, Saguenay-Lac-Saint-Jean type, SLSJ-COX deficiency]","Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.","[220111, 619065]",,,,,"Leigh syndrome, French Canadian type",TRUE,FALSE,Active +GARD:8371,Legacy,GARD,,,,,,,,,,,,Baritosis,TRUE,FALSE,Active +GARD:8372,Legacy,GARD,,,,,,,,,,,,Silicosiderosis,TRUE,FALSE,Active +GARD:8374,Legacy,GARD,,,,,,,,,,,,Labrador lung,TRUE,FALSE,Active +GARD:8378,Active,Orphanet,ORPHA:731,Disorder,[Disease],Autosomal recessive polycystic kidney disease,[AR-PKD],"A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys.","[617610, 263200]",,,,,Autosomal recessive polycystic kidney disease,TRUE,FALSE,Active +GARD:8379,Legacy,GARD,,,,,,,,,,,,"Arachidonic acid, absence of",TRUE,FALSE,Retired +GARD:838,Active,Orphanet,ORPHA:113,Disorder,[Disease],Bazex-Dupré-Christol syndrome,"[BDCS, Follicular atrophoderma and basal cell carcinomas]",Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.,[301845],,,,,Bazex-Dupre-Christol syndrome,TRUE,FALSE,Active +GARD:8380,Active,Orphanet,ORPHA:51608,Disorder,[Disease],Generalized arterial calcification of infancy,"[Idiopathic infantile arterial calcification, Idiopathic obliterative arteriopathy, Infantile arteriosclerosis, Occlusive infantile arteriopathy]","A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.","[208000, 614473]",,,,,Arterial calcification of infancy,TRUE,FALSE,Active +GARD:8382,Legacy,GARD,,,,,,,,,,,,2-Methylacetoacetyl CoA thiolase deficiency,TRUE,FALSE,Active +GARD:8383,Legacy,GARD,,,,,,,,,,,,Biliary hypoplasia,TRUE,FALSE,Active +GARD:8386,Legacy,GARD,,,,,,,,,,,,Global disaccharide intolerance,TRUE,FALSE,Active +GARD:8387,Active,Orphanet,ORPHA:20,Disorder,[Disease],3-hydroxy-3-methylglutaric aciduria,"[3-hydroxy-3-methylglutaryl-CoA lyase deficiency, HMG-CoA lyase deficiency, Hydroxymethylglutaric aciduria]","A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.",[246450],,,,,HMG CoA lyase deficiency,TRUE,FALSE,Active +GARD:8388,Legacy,GARD,,,,,,,,,,,,Hydroxycarboxylic aciduria,TRUE,FALSE,Retired +GARD:839,Legacy,GARD,,,,,,,,,,,,Bazopoulou-Kyrkanidou syndrome,TRUE,FALSE,Retired +GARD:8391,Active,Orphanet,ORPHA:664,Disorder,[Disease],Ornithine transcarbamylase deficiency,"[OCT deficiency, OTC deficiency, Ornithine carbamoyltransferase deficiency]","A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae.",[311250],,,,,Ornithine transcarbamylase deficiency,TRUE,FALSE,Active +GARD:8394,Legacy,GARD,,,,,,,,,,,,Hypolipoproteinemia,TRUE,FALSE,Active +GARD:8395,Legacy,GARD,,,,,,,,,,,,"Leukodystrophy, pseudometachromatic",TRUE,FALSE,Retired +GARD:8397,Active,Orphanet,ORPHA:168598,Disorder,[Disease],Brain demyelination due to methionine adenosyltransferase deficiency,"[MAT I/III deficiency, MAT deficiency, Methionine adenosyltransferase deficiency]",Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.,[250850],,,,,Methionine adenosyltransferase deficiency,TRUE,FALSE,Active +GARD:8398,Legacy,GARD,,,,,,,,,,,,Peroxisome disorders,FALSE,FALSE,Active +GARD:84,Active,Orphanet+OMIM,OMIM:608594,Subtype of disorder,[Disease subtype],"Lipodystrophy, congenital generalized, type 1","[lipodystrophy, berardinelli-seip congenital, type 1, Berardinelli-seip congenital lipodystrophy, type 1, brunzell syndrome, agpat2-related]","Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia ({12:Garg, 2004}).\n\n<Subhead> Genetic Heterogeneity of Congenital Generalized Lipodystrophy\n\nAlso see CGL2 ({269700}), caused by mutation in the BSCL2 gene ({606158}); CGL3 ({612526}), caused by mutation in the CAV1 gene ({601047}); and CGL4 ({613327}), caused by mutation in the PTRF gene ({603198}).",[608594],[528],[Congenital generalized lipodystrophy],[13388],,Congenital generalized lipodystrophy type 1,TRUE,FALSE,Active +GARD:8400,Legacy,GARD,,,,,,,,,,,,Galactorrhoea-Hyperprolactinaemia,TRUE,FALSE,Active +GARD:8401,Legacy,GARD,,,,,,,,,,,,Galactocele,TRUE,FALSE,Active +GARD:8402,Legacy,GARD,,,,,,,,,,,,Pseudopolycythaemia,TRUE,FALSE,Active +GARD:8403,Legacy,GARD,,,,,,,,,,,,Supranuclear ocular palsy,TRUE,FALSE,Active +GARD:8406,Active,Orphanet+OMIM,OMIM:305700,Subtype of disorder,[Disease subtype],"Spermatogenic failure, x-linked, 1","[Sertoli cell-only syndrome, del castillo syndrome, germinal cell aplasia]","In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules ({4:Sargent et al., 1999}).\n\nThere is evidence that Sertoli cell-only syndrome can be caused by interstitial deletions in the 'azoospermia factor' (AZF) region on the long arm of the Y chromosome (SPGFY1; {400042}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).",[305700],[399805],[Male infertility with azoospermia or oligozoospermia due to single gene mutation],[8530],,Sertoli cell-only syndrome,TRUE,FALSE,Active +GARD:8407,Active,Orphanet,ORPHA:1305,Disorder,[Malformation syndrome],Feingold syndrome,"[Brunner-Winter syndrome, Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum, FGLDS, FS, MMT, MODED syndrome, Microcephaly-digital anomalies-normal intelligence syndrome, Microcephaly-intellectual disability-tracheoesophageal fistula syndrome, Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome, ODED syndrome, Oculo-digito-esophageal-duodenal syndrome]","A rare genetic, congenital malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies (brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs), mild learning deficit and short palpebral fissures. The two subtypes are clinically distinguished by the presence (type 1) or absence (type 2) gastrointestinal atresia.","[614326, 164280]",,,,,Feingold syndrome,TRUE,FALSE,Active +GARD:841,Legacy,GARD,,,,,,,,,,,,Bd syndrome,TRUE,FALSE,Active +GARD:8410,Active,Orphanet,ORPHA:246,Disorder,[Malformation syndrome],Postaxial acrofacial dysostosis,"[Acrofacial dysostosis, Genee-Wiedemann type, Mandibulofacial dysostosis with postaxial limb anomalies, Miller syndrome, POADS, Postaxial acrodysostosis]","A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia.",[263750],,,,,Miller syndrome,TRUE,FALSE,Active +GARD:8413,Legacy,GARD,,,,,,,,,,,,Camera Marugo Cohen syndrome,TRUE,FALSE,Active +GARD:8414,Active,Orphanet,ORPHA:888,Disorder,[Malformation syndrome],Van der Woude syndrome,"[Cleft lip/palate with mucous cysts of lower lip, Lip-pit syndrome, VWS]","Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.","[119300, 604547, 606713]",,,,,Van der Woude syndrome,TRUE,FALSE,Active +GARD:8415,Legacy,GARD,,,,,,,,,,,,Van Bogaert-Hozay syndrome,TRUE,FALSE,Active +GARD:8416,Active,Orphanet,ORPHA:398166,Disorder,[Malformation syndrome],Focal facial dermal dysplasia,[FFDD],"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.","[227260, 614973, 614974, 136500]",,,,,Focal facial dermal dysplasia,TRUE,FALSE,Active +GARD:8417,Draft,GARD,,Disorder,[Clinical syndrome],Renal cell carcinoma 4,[RCC4],,,[217071],[Renal cell carcinoma],[13215],,Renal cell carcinoma 4,TRUE,FALSE,Active +GARD:8419,Active,Orphanet,ORPHA:137902,Disorder,[Morphological anomaly],Isolated optic nerve hypoplasia/aplasia,,"A rare genetic optic nerve disorder characterized by visual impairment or blindness resulting from varying degrees of underdevelopment of the optic nerve or even complete absence of the optic nerve, ganglion cells, and central retinal vessels. It may be unilateral, typically with otherwise normal brain development, or bilateral with accompanying severe and widespread congenital malformations of the central nervous system.",[165550],,,,,"Optic nerve hypoplasia, familial bilateral",TRUE,FALSE,Active +GARD:842,Active,Orphanet,ORPHA:2206,Disorder,[Malformation syndrome],Ankylosing vertebral hyperostosis with tylosis,,"A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.",[106400],,,,,Ankylosing vertebral hyperostosis with tylosis,TRUE,FALSE,Active +GARD:8420,Legacy,GARD,,,,,,,,,,,,Kifafa seizure disorder,TRUE,FALSE,Active +GARD:8421,Active,Orphanet,ORPHA:884,Disorder,[Malformation syndrome],Tetrasomy 12p,"[Isochromosome 12p mosaicism, Isochromosome 12p syndrome, Pallister-Killian syndrome]",Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.,[601803],,,,,Pallister-Killian mosaic syndrome,TRUE,FALSE,Active +GARD:8422,Active,Orphanet,ORPHA:709,Disorder,[Malformation syndrome],Peters plus syndrome,"[Krause-Kivlin syndrome, Krause-van Schooneveld-Kivlin syndrome, Peters anomaly with short limb dwarfism]","Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.",[261540],,,,,Peters plus syndrome,TRUE,FALSE,Active +GARD:8423,Active,Orphanet,ORPHA:1399,Disorder,[Malformation syndrome],Richards-Rundle syndrome,"[Ketoaciduria-intellectual disability-ataxia-deafness syndrome, Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome]","Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.",[245100],,,,,Richards-Rundle syndrome,TRUE,FALSE,Active +GARD:8424,Active,Orphanet,ORPHA:42062,Disorder,[Disease],Iminoglycinuria,,"A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.",[242600],,,,,Iminoglycinuria,TRUE,FALSE,Active +GARD:8426,Active,Orphanet,ORPHA:95720,Disorder,[Morphological anomaly],Thyroid hypoplasia,,"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.","[225250, 218700]",,,,,Thyroid dysgenesis,TRUE,FALSE,Active +GARD:8427,Active,Orphanet,ORPHA:34592,Disorder,[Disease],Immunodeficiency by defective expression of MHC class I,"[Bare lymphocyte syndrome type 1, MHC class I deficiency]","A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported.","[241600, 604571]",,,,,Bare lymphocyte syndrome,TRUE,FALSE,Active +GARD:8428,Active,Orphanet,ORPHA:1512,Disorder,[Malformation syndrome],Crane-Heise syndrome,,"Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.",[218090],,,,,Crane-Heise syndrome,TRUE,FALSE,Active +GARD:8429,Legacy,GARD,,,,,,,,,,,,"Genu valgum, st Helena familial",TRUE,FALSE,Active +GARD:8431,Legacy,GARD,,,,,,,,,,,,Axial osteomalacia,TRUE,FALSE,Active +GARD:8432,Active,Orphanet,ORPHA:168572,Disorder,[Malformation syndrome],Native American myopathy,[Congenital myopathy-cleft palate-malignant hyperthermia syndrome],"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.",[255995],,,,,STAC3 Disorder,TRUE,FALSE,Active +GARD:8433,Active,Orphanet,ORPHA:99741,Disorder,[Malformation syndrome],King-Denborough syndrome,[Koussef-Nichols syndrome],"King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.",[145600],,,,,King Denborough syndrome,TRUE,FALSE,Active +GARD:8435,Active,Orphanet,ORPHA:2856,Disorder,[Malformation syndrome],Persistent Müllerian duct syndrome,"[PMDS, Persistent Müllerian derivatives]","Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.",[261550],,,,,Persistent Müllerian duct syndrome,TRUE,FALSE,Active +GARD:8436,Active,Orphanet,ORPHA:282,Group of disorders,[Clinical group],Frontotemporal dementia,[FTD],"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms).","[172700, 607485, 600274, 600795]",,,,,Frontotemporal dementia,TRUE,FALSE,Active +GARD:8437,Legacy,GARD,,,,,,,,,,,,Glassy cell carcinoma of the cervix,TRUE,FALSE,Active +GARD:8438,Active,Orphanet,ORPHA:3387,Disorder,[Disease],Isolated anterior cervical hypertrichosis,"[Hairy throat syndrome, Tsukahara-Kajii syndrome]",A rare form of localised hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.,[600457],,,,,Isolated anterior cervical hypertrichosis,TRUE,FALSE,Active +GARD:844,Active,Orphanet+OMIM,OMIM:255700,Subtype of disorder,[Disease subtype],"Myotonia congenita, autosomal recessive","[Becker disease, myotonia, generalized]","Autosomal recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness ({8:Koch et al., 1993}). Becker disease is more common and more severe than Thomsen disease.",[255700],[614],[Thomsen and Becker disease],[12301],,Myotonia congenita autosomal recessive,TRUE,FALSE,Draft +GARD:8442,Legacy,GARD,,,,,,,,,,,,Partial corpus callosum agenesis,TRUE,FALSE,Retired +GARD:8444,Legacy,GARD,,,,,,,,,,,,Keratoconjunctivitis sicca,FALSE,FALSE,Retired +GARD:8445,Legacy,GARD,,,,,,,,,,,,Giant papillary conjunctivitis,TRUE,FALSE,Active +GARD:8446,Legacy,GARD,,,,,,,,,,,,Conjunctivitis with Pseudomembrane,TRUE,FALSE,Active +GARD:8449,Active,Orphanet,ORPHA:85202,Disorder,[Malformation syndrome],Keutel syndrome,[Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome],"Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.",[245150],,,,,Keutel syndrome,TRUE,FALSE,Active +GARD:8451,Legacy,GARD,,,,,,,,,,,,Sener syndrome,TRUE,FALSE,Active +GARD:8452,Legacy,GARD,,,,,,,,,,,,Tièche-Jadassohn nevus,TRUE,FALSE,Active +GARD:8456,Legacy,GARD,,,,,,,,,,,,Stomatocytosis II,TRUE,FALSE,Retired +GARD:8457,Active,Orphanet,ORPHA:32960,Disorder,[Disease],Tumor necrosis factor receptor 1 associated periodic syndrome,"[Familial Hibernian fever, TNF receptor 1-associated periodic syndrome, TRAPS syndrome]","Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).",[142680],,,,,Tumor necrosis factor receptor-associated periodic syndrome,TRUE,FALSE,Active +GARD:846,Active,Orphanet,ORPHA:1237,Disorder,[Malformation syndrome],Beemer-Ertbruggen syndrome,[Lethal hydrocephalus-cardiac malformation-dense bones syndrome],"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.",[209970],,,,,Beemer Ertbruggen syndrome,TRUE,FALSE,Active +GARD:8460,Legacy,GARD,,,,,,,,,,,,Anton's syndrome,TRUE,FALSE,Active +GARD:8461,Legacy,GARD,,,,,,,,,,,,Hairy palms and soles,TRUE,FALSE,Active +GARD:8465,Legacy,GARD,,,,,,,,,,,,Hairy nose tip,TRUE,FALSE,Active +GARD:8466,Active,Orphanet,ORPHA:3453,Disorder,[Disease],Autoimmune polyendocrinopathy type 1,"[APECED syndrome, APS type 1, APS1, Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome, Autoimmune polyendocrine syndrome type 1, Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome, Autoimmune polyglandular syndrome type 1, HAM syndrome, Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome, MEDAC syndrome, Multiple endocrine deficiency-Addison disease-candidiasis syndrome]","A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.",[240300],,,,,Autoimmune polyglandular syndrome type 1,TRUE,FALSE,Active +GARD:8468,Active,Orphanet,ORPHA:252206,Disorder,[Disease],Melanoma and neural system tumor syndrome,[Melanoma-astrocytoma syndrome],Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma; see this term).,[155755],,,,,Melanoma astrocytoma syndrome,TRUE,FALSE,Active +GARD:8470,Legacy,GARD,,,,,,,,,,,,"Microcephaly, holoprosencephaly, and intrauterine growth retardation",TRUE,FALSE,Active +GARD:8471,Active,Orphanet,ORPHA:54,Disorder,[Disease],X-linked recessive ocular albinism,"[OA1, Ocular albinism type 1, Ocular albinism, Nettleship-Falls type, XLOA]","X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.",[300500],,,,,Ocular albinism type 1,TRUE,FALSE,Active +GARD:8472,Active,Orphanet,ORPHA:575,Disorder,[Disease],Muckle-Wells syndrome,[Neutrophilic urticaria],"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).",[191900],,,,,Muckle-Wells syndrome,TRUE,FALSE,Active +GARD:8476,Active,Orphanet,ORPHA:99718,Disorder,[Disease],Leber plus disease,[LHON plus disease],"A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias.","[500001, 165200]",,,,,Leber hereditary optic neuropathy with dystonia,TRUE,FALSE,Active +GARD:8477,Legacy,GARD,,,,,,,,,,,,Renal oncocytoma,TRUE,FALSE,Active +GARD:8479,Active,Orphanet,ORPHA:538756,Disorder,[Disease],Familial multiple discoid fibromas,[Familial multiple trichodiscomas],"A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.",[190340],,,,,Familial multiple trichodiscomas,TRUE,FALSE,Active +GARD:848,Active,Orphanet,ORPHA:117,Disorder,[Disease],Behçet disease,,"A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.",[109650],,,,,Behçet disease,TRUE,FALSE,Active +GARD:8480,Active,Orphanet,ORPHA:90349,Disorder,[Disease],Autosomal recessive cutis laxa type 1,"[ARCL1, Autosomal recessive cutis laxa with severe systemic involvement, Autosomal recessive cutis laxa, pulmonary emphysema type]","A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).","[219100, 614437]",,,,,"Cutis laxa, autosomal recessive type 1",TRUE,FALSE,Active +GARD:8482,Legacy,GARD,,,,,,,,,,,,Thumb deformity,TRUE,FALSE,Active +GARD:8484,Legacy,GARD,,,,,,,,,,,,Trigger thumb,TRUE,FALSE,Active +GARD:8485,Active,Orphanet,ORPHA:85203,Disorder,[Malformation syndrome],Acropectoral syndrome,"[ACRP syndrome, Syndactyly-preaxial polydactyly-sternal deformity syndrome]","A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations.",[605967],,,,,Acropectoral syndrome,TRUE,FALSE,Active +GARD:8486,Active,Orphanet,ORPHA:2953,Disorder,[Disease],Musculocontractural Ehlers-Danlos syndrome,"[Adducted thumb-clubfoot syndrome, Distal arthrogryposis with peculiar facies and hydronephrosis, Dündar syndrome, Ehlers-Danlos syndrome, Kosho type, Musculocontractural EDS, mcEDS]","A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.","[601776, 615539]",,,,,Musculocontractural Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:8487,Active,Orphanet,ORPHA:199267,Disorder,[Disease],Infantile digital fibromatosis,"[Inclusion body fibromatosis, Recurring digital fibrous tumor of childhood, Reye tumor]","Infantile digital fibromatosis is a rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.",,,,,,Infantile digital fibromatosis,TRUE,FALSE,Active +GARD:8488,Active,Orphanet,ORPHA:319487,Disorder,[Disease],Familial papillary or follicular thyroid carcinoma,"[FNMTC, Familial pure nonmedullary thyroid carcinoma]","Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.","[603386, 188550, 606240, 188470, 616534, 603744, 616535]",,,,,"Nonmedullary thyroid carcinoma, with or without cell oxyphilia",TRUE,FALSE,Active +GARD:8489,Legacy,GARD,,,,,,,,,,,,MASS phenotype,TRUE,FALSE,Active +GARD:849,Legacy,GARD,,,,,,,,,,,,Behr syndrome,TRUE,FALSE,Active +GARD:8490,Legacy,GARD,,,,,,,,,,,,Ectopia pupillae,TRUE,FALSE,Active +GARD:8491,Active,Orphanet+OMIM,OMIM:606190,Subtype of disorder,[Disease subtype],"Meningioma, radiation-induced",,"Following radiotherapy, secondary cancer may occur after a long latent period. {1:Zattara-Cannoni et al. (2001)} reported cytogenetic studies of 6 cases of radiation-induced meningiomas. Two of the cases occurred after radiation for tinea capitis, after an interval of 17 and 54 years, respectively; in the first of these cases, local recurrence occurred after an additional period of 29 years. Using spectral karyotyping (SKY) and comparative genomic hybridization (CGH), {1:Zattara-Cannoni et al. (2001)} found that all 6 cases had the same chromosome abnormality, t(1;22)(p11;q12). They suggested that a gene on chromosome 1p11 is involved in radiation-induced meningiomas. A locus in the 22q12.3-qter region is a well-established site of mutation causing meningioma (see {156100}).",[606190],[2495],[Meningioma],[7015],,Radiation induced meningioma,TRUE,FALSE,Active +GARD:8494,Legacy,GARD,,,,,,,,,,,,Ribbing disease,TRUE,FALSE,Active +GARD:8495,Active,Orphanet,ORPHA:139507,Disorder,[Disease],African iron overload,[Bantu siderosis],"A rare disorder described in sub-Saharan African populations and characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.",[601195],,,,,Bantu siderosis,TRUE,FALSE,Active +GARD:8497,Active,Orphanet+OMIM,OMIM:605472,Subtype of disorder,[Clinical subtype],"Usher syndrome, type iic",,"Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes ({5:Eudy et al., 1998}). See {276900} for clinical characterization of Usher syndrome types I, II, and III.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A ({276901}).",[605472],[231178],[Usher syndrome type 2],[5440],,"Usher syndrome, type 2C",TRUE,FALSE,Active +GARD:8498,Legacy,GARD,,,,,,,,,,,,"VACTERL association with hydrocephaly, X-linked",TRUE,FALSE,Active +GARD:8499,Legacy,GARD,,,,,,,,,,,,Thyroid hormone plasma membrane transport defect,TRUE,FALSE,Active +GARD:85,Active,Orphanet,ORPHA:2655,Disorder,[Disease],Thanatophoric dysplasia,[TD],"A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.","[187601, 187600, 156830]",,,,,Thanatophoric dysplasia,TRUE,FALSE,Active +GARD:8500,Legacy,GARD,,,,,,,,,,,,Cholesterol pneumonia,TRUE,FALSE,Active +GARD:8501,Active,Orphanet,ORPHA:171723,Disorder,[Disease],White sponge nevus,"[Hereditary mucosal leukokeratosis, White sponge nevus of Cannon]","White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.","[615785, 193900]",,,,,White sponge nevus of cannon,TRUE,FALSE,Active +GARD:8502,Legacy,GARD,,,,,,,,,,,,Coloboma of optic nerve,TRUE,FALSE,Active +GARD:8503,Legacy,GARD,,,,,,,,,,,,Squamous cell carcinoma of the head and neck,FALSE,FALSE,Active +GARD:8505,Active,Orphanet,ORPHA:75497,Disorder,[Disease],X-linked Ehlers-Danlos syndrome,"[EDS V, Ehlers-Danlos syndrome type 5, X-linked EDS]","A rare systemic disease characterized by a severe phenotype in all male patients, combining abnormality of connective tissue typical for Ehlers-Danlos syndrome (including joint hypermobility, scoliosis, soft and doughy skin, hyperextensible skin, abnormal scarring, facial peculiarities, and generalized hypotonia, among others) and eventually lethal congestive heart failure due to polyvalvular disease. Female carriers are affected to a variable degree.",,,,,,Ehlers-Danlos syndrome type 5,TRUE,FALSE,Retired +GARD:8507,Active,Orphanet,ORPHA:230839,Disorder,[Disease],Classical-like Ehlers-Danlos syndrome type 1,"[Classical-like EDS type 1, Ehlers-Danlos syndrome due to tenascin-X deficiency, clEDS type 1]","A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogeric skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.",[606408],,,,,Classical-like Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:8508,Legacy,GARD,,,,,,,,,,,,"Ehlers-Danlos syndrome, dysfibronectinemic type",TRUE,FALSE,Active +GARD:8509,Active,Orphanet,ORPHA:1133,Disorder,[Malformation syndrome],AREDYLD syndrome,[Acrorenal defect-ectodermal dysplasia-diabetes syndrome],"A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly.",[207780],,,,,AREDYLD,TRUE,FALSE,Active +GARD:8510,Legacy,GARD,,,,,,,,,,,,Microcephaly with spastic quadriplegia,TRUE,FALSE,Active +GARD:8513,Legacy,GARD,,,,,,,,,,,,Retroperitoneal liposarcoma,TRUE,FALSE,Active +GARD:8514,Legacy,GARD,,,,,,,,,,,,Visceral steatosis,TRUE,FALSE,Active +GARD:8516,Legacy,GARD,,,,,,,,,,,,Familial myelofibrosis,TRUE,FALSE,Retired +GARD:8517,Active,Orphanet,ORPHA:384,Disorder,[Disease],Huriez syndrome,"[Palmoplantar hyperkeratosis-sclerodactyly syndrome, Palmoplantar keratoderma-sclerodactyly syndrome, Scleroatrophic syndrome, Sclerotylosis]","A rare genetic skin disease characterized by the triad of congenital scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas.",[181600],,,,,Palmoplantar keratoderma-sclerodactyly syndrome,TRUE,FALSE,Active +GARD:8518,Legacy,GARD,,,,,,,,,,,,Absence of gluteal muscle,TRUE,FALSE,Active +GARD:8519,Legacy,GARD,,,,,,,,,,,,Cardioauditory syndrome of Sanchez Cascos,TRUE,FALSE,Active +GARD:852,Legacy,GARD,,,,,,,,,,,,Ben Ari Shuper Mimouni syndrome,TRUE,FALSE,Active +GARD:8520,Active,Orphanet,ORPHA:1568,Disorder,[Malformation syndrome],X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,,"A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.",[304340],,,,,"Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures",TRUE,FALSE,Active +GARD:8521,Active,Orphanet,ORPHA:1145,Disorder,[Disease],Infantile-onset X-linked spinal muscular atrophy,"[SMAX2, Spinal muscular atrophy with arthrogryposis, X-linked distal arthrogryposis multiplex congenita, X-linked spinal muscular atrophy type 2]","A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.",[301830],,,,,"Arthrogryposis multiplex congenita, distal, X-linked",TRUE,FALSE,Active +GARD:8522,Legacy,GARD,,,,,,,,,,,,Capillary hemangioblastoma,TRUE,FALSE,Retired +GARD:8524,Legacy,GARD,,,,,,,,,,,,Supraumbilical midabdominal raphe and facial cavernous hemangiomas,TRUE,FALSE,Active +GARD:8526,Active,Orphanet,ORPHA:171700,Disorder,[Disease],Diffuse panbronchiolitis,,"Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis",[604809],,,,,Diffuse panbronchiolitis,TRUE,FALSE,Active +GARD:8527,Active,Orphanet+OMIM,OMIM:234810,Subtype of disorder,[Disease subtype],"Pulmonary venoocclusive disease 2, autosomal recessive","[Hemangiomatosis, familial pulmonary capillary]","Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertension (PPH; see {178600}). It is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. The disorder can cause occult alveolar hemorrhage. High-resolution CT imaging of the chest shows patchy centrilobular ground-glass opacities, septal lines, and lymph node enlargement (summary by {2:Eyries et al., 2014}).\n\nFor a discussion of genetic heterogeneity of pulmonary venoocclusive disease, see PVOD1 ({265450}).",[234810],[199241],[Pulmonary capillary hemangiomatosis],[15027],,"Hemangiomatosis, familial pulmonary capillary",TRUE,FALSE,Active +GARD:8528,Active,Orphanet,ORPHA:244242,Disorder,[Disease],HELLP syndrome,"[Hemolysis, elevated liver enzymes, low platelets in pregnancy, Hemolysis-elevated liver enzymes-low platelets syndrome]","A rare hemorrhagic disorder due to an acquired platelet anomaly characterized by hemolysis, elevated liver enzymes and thrombocytopenia that affects pregnant or post-partum women, and is frequently associated with severe preeclampsia. Symptoms are variable, typically including right upper quadrant or epigastric abdominal pain, nausea, vomiting, excessive weight gain, generalized edema, hypertension, general malaise, right shoulder pain, backache, and/or headache. Hepatic hemorrhage and rupture, renal failure, and pulmonary edema can result in maternal and/or fetal death.",,,,,,HELLP syndrome,TRUE,FALSE,Active +GARD:8529,Active,Orphanet,ORPHA:295044,Disorder,[Morphological anomaly],Macrodactyly of fingers,[Macrodactyly of hand],"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of the hand, typically within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter. The index finger is most commonly affected. If two or more digits are involved, these are always adjacent. The enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. Patients may experience pain and reduced range of motion.",,,,,,Macrodactyly of fingers,TRUE,FALSE,Active +GARD:853,Active,Orphanet,ORPHA:100978,Disorder,[Malformation syndrome],Cloverleaf skull-asphyxiating thoracic dysplasia syndrome,[Benallegue-Lacete syndrome],"A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.",,,,,,Benallegue Lacete syndrome,TRUE,FALSE,Active +GARD:8530,Active,Orphanet,ORPHA:399805,Disorder,[Disease],Male infertility with azoospermia or oligozoospermia due to single gene mutation,,"A rare, genetic male infertility due to a sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.","[617960, 617706, 270960, 619202, 615413, 617707, 615841, 619108, 258150, 615842, 108420, 618086, 615081, 618115, 613957, 305700, 618110, 309120, 616950]",,,,,Spermatogenesis arrest,TRUE,FALSE,Active +GARD:8531,Active,Orphanet+OMIM,OMIM:248340,Subtype of disorder,[Malformation syndrome subtype],3mc syndrome 3,"[Facial clefting syndrome, gypsy type, malpuech facial clefting syndrome, formerly]","The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by {10:Rooryck et al., 2011}).\n\nFor a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 ({257920}).",[248340],[293843],[3MC syndrome],[1118],,Malpuech facial clefting syndrome,TRUE,FALSE,Retired +GARD:8532,Active,Orphanet,ORPHA:220460,Disorder,[Disease],Attenuated familial adenomatous polyposis,"[AFAP, Attenuated FAP, Attenuated familial polyposis coli]","A mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.","[612591, 616415, 175100, 615083, 608456]",,,,,Attenuated familial adenomatous polyposis,TRUE,FALSE,Active +GARD:8533,Active,Orphanet,ORPHA:443909,Group of disorders,[Clinical group],Hereditary nonpolyposis colon cancer,"[Familial nonpolyposis colon cancer, Familial nonpolyposis colorectal cancer, HNPCC, Hereditary nonpolyposis colorectal cancer]","A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.",,,,,,Familial colorectal cancer,TRUE,FALSE,Active +GARD:8534,Legacy,GARD,,,,,,,,,,,,Eosinophilic pustular folliculitis,TRUE,FALSE,Active +GARD:8535,Active,Orphanet,ORPHA:661,Disorder,[Disease],Congenital central hypoventilation syndrome,"[CCHS, Congenital central alveolar hypoventilation syndrome, Ondine curse, Ondine syndrome]",Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system.,[209880],,,,,Congenital central hypoventilation syndrome,TRUE,FALSE,Active +GARD:8538,Active,Orphanet,ORPHA:98085,Group of disorders,[Category],"46,XY disorder of sex development","[46,XY DSD]",,,,,,,"46, XY disorders of sexual development",TRUE,FALSE,Active +GARD:8539,Active,Orphanet,ORPHA:210128,Disorder,[Disease],Urocanic aciduria,[Encephalopathy due to urocanase deficiency],Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.,[276880],,,,,Urocanase deficiency,TRUE,FALSE,Active +GARD:8540,Legacy,GARD,,,,,,,,,,,,"Trypanosomiasis, Human West-African",TRUE,FALSE,Active +GARD:8541,Active,Orphanet,ORPHA:95432,Group of disorders,[Clinical group],Primary progressive aphasia,"[Mesulam syndrome, PPA]","Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).",,,,,,Primary progressive aphasia,TRUE,FALSE,Active +GARD:8542,Active,Orphanet,ORPHA:93442,Group of disorders,[Clinical group],Chondrodysplasia punctata,[CDP],,,,,,,Chondrodysplasia punctata syndrome,TRUE,FALSE,Active +GARD:8543,Legacy,GARD,,,,,,,,,,,,Accessory navicular bone,FALSE,FALSE,Active +GARD:8546,Legacy,GARD,,,,,,,,,,,,Accessory deep peroneal nerve,TRUE,FALSE,Active +GARD:8547,Active,Orphanet,ORPHA:358,Disorder,[Disease],Gitelman syndrome,,A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.,[263800],,,,,Gitelman syndrome,TRUE,FALSE,Active +GARD:8548,Active,Orphanet,ORPHA:98856,Disorder,[Disease],Charcot-Marie-Tooth disease type 2B1,"[AR-CMT2B1, Autosomal recessive Charcot-Marie-Tooth disease type 2B1, Autosomal recessive axonal CMT4C1]","Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.",[605588],,,,,Charcot-Marie-Tooth disease type 2B1,TRUE,FALSE,Active +GARD:8549,Active,Orphanet,ORPHA:570,Disorder,[Disease],Moebius syndrome,[Möbius syndrome],"A very rare congenital cranial dysinnervation disorder characterized by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects.",[157900],,,,,Moebius syndrome,TRUE,FALSE,Active +GARD:855,Legacy,GARD,,,,,,,,,,,,Benign autosomal dominant myopathy,TRUE,FALSE,Active +GARD:8550,Active,Orphanet,ORPHA:86920,Disorder,[Disease],Dermatopathia pigmentosa reticularis,,"A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis.",[125595],,,,,Dermatopathia pigmentosa reticularis,TRUE,FALSE,Active +GARD:8552,Legacy,GARD,,,,,,,,,,,,"Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification",TRUE,FALSE,Active +GARD:8553,Active,Orphanet,ORPHA:31709,Disorder,[Disease],Infantile convulsions and choreoathetosis,"[ICCA syndrome, Paroxysmal kinesigenic dyskinesia and infantile convulsions]",Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.,[602066],,,,,Familial infantile convulsions and paroxysmal choreoathetosis,TRUE,FALSE,Active +GARD:8554,Legacy,GARD,,,,,,,,,,,,"Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch",TRUE,FALSE,Active +GARD:8555,Active,Orphanet,ORPHA:93571,Subtype of disorder,[Histopathological subtype],Dense deposit disease,[Membranoproliferative glomerulonephritis type 2],"A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits.",[609814],,,,,Dense deposit disease,TRUE,FALSE,Active +GARD:8556,Legacy,GARD,,,,,,,,,,,,Rowley-Rosenberg syndrome,TRUE,FALSE,Active +GARD:8557,Active,Orphanet+OMIM,OMIM:300062,Subtype of disorder,[Etiological subtype],"Intellectual developmental disorder, x-linked 14",,,[300062],[777],[X-linked non-syndromic intellectual disability],[18640],,"Mental retardation, X-linked 14",TRUE,FALSE,Retired +GARD:8558,Legacy,GARD,,,,,,,,,,,,Burning mouth syndrome type 3,TRUE,FALSE,Retired +GARD:8559,Active,Orphanet+OMIM,OMIM:194071,Subtype of disorder,[Disease subtype],Wilms tumor 2,,,[194071],[654],[Nephroblastoma],[7892],,Familial Wilms tumor 2,TRUE,FALSE,Active +GARD:856,Active,Orphanet+OMIM,OMIM:601764,Subtype of disorder,[Disease subtype],"Seizures, benign familial infantile, 1",,"Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal ({3:Franzoni et al., 2005}).\n\nSee also benign familial neonatal seizures (BFNS1; {121200}).\n\n{1:Deprez et al. (2009)} provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.\n\n<Subhead> Genetic Heterogeneity of Benign Familial Infantile Seizures\n\nThe BFIS1 locus has been mapped to chromosome 19q. BFIS2 ({605751}) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 ({607745}), which is caused by the mutations in the SCN2A gene ({182390}) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 ({612627}) has been mapped to chromosome 1p. BFIS5 ({617080}) is caused by mutation in the SCN8A gene ({600702}) on chromosome 12q13. BFIS6 (see {610353}) is caused by mutation in the CHRNA2 gene ({118502}) on chromosome 8p21.",[601764],[306],[Benign familial infantile epilepsy],[857],,"Convulsions, benign familial infantile, 1",TRUE,FALSE,Active +GARD:8561,Legacy,GARD,,,,,,,,,,,,Kousseff Nichols syndrome,TRUE,FALSE,Active +GARD:8562,Active,Orphanet,ORPHA:808,Disorder,[Malformation syndrome],Seckel syndrome,,"A rare form of microcephalic primordial dwarfism characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.","[606744, 615807, 210600, 616777, 616051, 613823, 616171, 600546, 613676]",,,,,Seckel syndrome,TRUE,FALSE,Active +GARD:8563,Active,Orphanet,ORPHA:238606,Disorder,[Disease],Primary orthostatic tremor,[POT],"Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.",,,,,,Primary orthostatic tremor,TRUE,FALSE,Active +GARD:8564,Legacy,GARD,,,,,,,,,,,,Fetal cystic hygroma,TRUE,FALSE,Active +GARD:8565,Legacy,GARD,,,,,,,,,,,,Radiation induced brachial plexopathy,TRUE,FALSE,Active +GARD:8566,Legacy,GARD,,,,,,,,,,,,Radio-ulnar synostosis type 2,TRUE,FALSE,Active +GARD:8567,Legacy,GARD,,,,,,,,,,,,Situs inversus totalis with cystic dysplasia of kidneys and pancreas,TRUE,FALSE,Active +GARD:8568,Legacy,GARD,,,,,,,,,,,,Acinic cell carcinoma,TRUE,FALSE,Active +GARD:8569,Legacy,GARD,,,,,,,,,,,,Warthin tumor,TRUE,FALSE,Active +GARD:857,Active,Orphanet,ORPHA:306,Disorder,[Disease],Benign familial infantile epilepsy,"[BFIE, BFIS, Benign familial infantile convulsions, Benign familial infantile seizures]","Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.","[612627, 605751, 617080, 607745, 601764]",,,,,Benign familial infantile epilepsy,TRUE,FALSE,Active +GARD:8570,Active,Orphanet,ORPHA:83601,Disorder,[Disease],Steroid-responsive encephalopathy associated with autoimmune thyroiditis,"[Hashimoto encephalitis, SREAT]","Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.",,,,,,Hashimoto encephalopathy,TRUE,FALSE,Active +GARD:8571,Legacy,GARD,,,,,,,,,,,,Polycystic bone disease,TRUE,FALSE,Active +GARD:8572,Legacy,GARD,,,,,,,,,,,,Intervertebral disc disease,FALSE,FALSE,Active +GARD:8573,Active,Orphanet,ORPHA:219,Disorder,[Disease],Delta-sarcoglycan-related limb-girdle muscular dystrophy R6,"[Autosomal recessive limb-girdle muscular dystrophy type 2F, Delta-sarcoglycan-related LGMD R6, Delta-sarcoglycanopathy, LGMD due to delta-sarcoglycan deficiency, LGMD type 2F, LGMD2F, Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency, Limb-girdle muscular dystrophy type 2F]","A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.",[601287],,,,,Limb-girdle muscular dystrophy type 2F,TRUE,FALSE,Active +GARD:8574,Active,Orphanet,ORPHA:268,Disorder,[Disease],Dysferlin-related limb-girdle muscular dystrophy R2,"[Autosomal recessive limb-girdle muscular dystrophy type 2B, Dysferlin-related LGMD R2, LGMD due to dysferlin deficiency, LGMD type 2B, LGMD2B, Limb-girdle muscular dystrophy due to dysferlin deficiency, Limb-girdle muscular dystrophy type 2B]","A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.",[253601],,,,,Limb-girdle muscular dystrophy type 2B,TRUE,FALSE,Active +GARD:8575,Legacy,GARD,,,,,,,,,,,,"Myasthenia gravis, limb-girdle",TRUE,FALSE,Active +GARD:8576,Legacy,GARD,,,,,,,,,,,,Balkan endemic nephropathy,TRUE,FALSE,Active +GARD:8577,Active,Orphanet,ORPHA:280898,Group of disorders,[Category],Panuveitis,[Total uveitis],,,,,,,Panuveitis,TRUE,FALSE,Active +GARD:8578,Active,Orphanet+OMIM,OMIM:602404,Subtype of disorder,[Disease subtype],"Parkinson disease 3, autosomal dominant",,"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.",[602404],[2828],[Young-onset Parkinson disease],[16610],,Parkinson disease type 3,TRUE,FALSE,Active +GARD:8580,Active,Orphanet,ORPHA:1914,Disorder,[Malformation syndrome],Vitamin K antagonist embryofetopathy,"[Vitamin K antagonist embryopathy, Warfarin embryofetopathy, Warfarin embryopathy, di Sala syndrome]","Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia.",,,,,,Warfarin syndrome,TRUE,FALSE,Active +GARD:8582,Legacy,GARD,,,,,,,,,,,,Autoimmune Inner Ear disease,TRUE,FALSE,Active +GARD:8583,Active,Orphanet,ORPHA:306527,Disorder,[Morphological anomaly],Isolated hereditary congenital facial paralysis,,"Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.",[601471],,,,,Hereditary congenital facial paresis,TRUE,FALSE,Active +GARD:8584,Legacy,GARD,,,,,,,,,,,,Calabro syndrome,TRUE,FALSE,Active +GARD:8585,Active,Orphanet,ORPHA:1517,Disorder,[Malformation syndrome],Cantú syndrome,"[Congenital hypertrichosis-acromegaloid facial features spectrum, Congenital hypertrichosis-coarse facial features spectrum, Hypertrichotic osteochondrodysplasia]","Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.",[239850],,,,,Cantu syndrome,TRUE,FALSE,Active +GARD:8586,Active,Orphanet,ORPHA:2872,Disorder,[Malformation syndrome],"Cardiocranial syndrome, Pfeiffer type","[Craniosynostosis-congenital heart disease-intellectual disability syndrome, Pfeiffer-Singer-Zschiesche syndrome]","A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.",[218450],,,,,Pfeiffer-type cardiocranial syndrome,TRUE,FALSE,Active +GARD:8587,Legacy,GARD,,,,,,,,,,,,"Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert",TRUE,FALSE,Active +GARD:8588,Active,Orphanet+OMIM,OMIM:144010,Subtype of disorder,[Disease subtype],"Hypercholesterolemia, familial, 2","[hypercholesterolemia, familial, due to ligand-defective apolipoprotein b, Hypercholesterolemia, autosomal dominant, type b, apolipoprotein b-100, familial ligand-defective, apolipoprotein b-100, familial defective]",,[144010],[391665],[Homozygous familial hypercholesterolemia],[10416],,Autosomal dominant type B hypercholesterolemia,FALSE,FALSE,Active +GARD:8589,Legacy,GARD,,,,,,,,,,,,Coffin syndrome 1,TRUE,FALSE,Active +GARD:8590,Legacy,GARD,,,,,,,,,,,,Heterochromia iridis,FALSE,FALSE,Active +GARD:8591,Draft,GARD,,Disorder,[Disease],X-linked visceral heterotaxy 1,"[HTX1, Laterality, X-linked, Situs inversus, complex cardiac defects, and splenic defects, X-linked, Heterotaxy, visceral, 1, X-linked, Heterotaxy, visceral, X-linked]","X-linked visceral heterotaxy type 1 is a rare form of heterotaxy. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by genetic changes in the ZIC3 gene, is inherited in an X-linked recessive fashion. It is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia). Affected individuals can also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus.",[306955],[450],[Heterotaxia],[10875],,X-linked visceral heterotaxy 1,TRUE,FALSE,Active +GARD:8592,Active,Orphanet,ORPHA:98920,Disorder,[Disease],Spinal muscular atrophy with respiratory distress type 1,"[Autosomal recessive distal spinal muscular atrophy type 1, Autosomal recessive spinal muscular atrophy with respiratory distress, Diaphragmatic spinal muscular atrophy, Distal hereditary motor neuropathy type 6, Distal-HMN type 6, SIANRF, SMARD1, Severe infantile axonal neuropathy with respiratory failure type 1, dHMN6, dSMA1]","Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.",[604320],,,,,Spinal muscular atrophy with respiratory distress 1,TRUE,FALSE,Active +GARD:8593,Active,Orphanet,ORPHA:77296,Disorder,[Malformation syndrome],Morgagni-Stewart-Morel syndrome,[Hyperostosis frontalis interna],"A rare cranial malformation characterized by hyperostosis frontalis interna, variably associated with metabolic and endocrine disorders (such as obesity, diabetes mellitus, and hirsutism, among others). Compression by calvarial thickening may lead to cerebral atrophy and present with cognitive impairment, neuropsychiatric symptoms, headaches, and epilepsy. The condition predominantly affects women.",[144800],,,,,Morgagni-Stewart-Morel syndrome,TRUE,FALSE,Active +GARD:8594,Legacy,GARD,,,,,,,,,,,,Maple syrup urine disease type 1A,TRUE,FALSE,Retired +GARD:8595,Active,Orphanet,ORPHA:96,Disorder,[Disease],Ataxia with vitamin E deficiency,"[AVED, Ataxia with isolated vitamin E deficiency, Familial isolated vitamin E deficiency, Friedreich-like ataxia, Isolated vitamin E deficiency]","A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.",[277460],,,,,Ataxia with vitamin E deficiency,TRUE,FALSE,Active +GARD:8596,Legacy,GARD,,,,,,,,,,,,Maple syrup urine disease type 2,TRUE,FALSE,Retired +GARD:8597,Legacy,GARD,,,,,,,,,,,,Maple syrup urine disease type 1B,TRUE,FALSE,Retired +GARD:8598,Active,Orphanet,ORPHA:44890,Disorder,[Disease],Gastrointestinal stromal tumor,"[GIST, Gastrointestinal stromal sarcoma]","Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.","[175510, 606764]",,,,,Gastrointestinal Stromal Tumors,TRUE,FALSE,Active +GARD:86,Active,Orphanet,ORPHA:314597,Disorder,[Malformation syndrome],Chudley-McCullough syndrome,,"Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.",[604213],,,,,Chudley-Mccullough syndrome,TRUE,FALSE,Active +GARD:860,Active,Orphanet,ORPHA:1548,Disorder,[Malformation syndrome],Cryptorchidism-arachnodactyly-intellectual disability syndrome,[Van Benthem-Driessen-Hanveld syndrome],"Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.",,,,,,Van Benthem-Driessen-Hanveld syndrome,TRUE,FALSE,Active +GARD:8600,Active,Orphanet,ORPHA:140969,Disorder,[Disease],Saldino-Mainzer syndrome,"[Conorenal syndrome, Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome]","Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.","[615630, 266920]",,,,,"Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia",TRUE,FALSE,Active +GARD:8602,Legacy,GARD,,,,,,,,,,,,Acetyl-carnitine deficiency,TRUE,FALSE,Active +GARD:8603,Legacy,GARD,,,,,,,,,,,,Acanthosis nigricans,FALSE,FALSE,Active +GARD:8604,Legacy,GARD,,,,,,,,,,,,Acanthoma,TRUE,FALSE,Active +GARD:8605,Active,Orphanet,ORPHA:91385,Group of disorders,[Clinical group],Acquired angioedema,"[AAE, Acquired C1 inhibitor deficiency, Acquired angioneurotic edema, Acquired bradykinine-induced angioedema, Acquired non histamine-induced angioedema]",A rare disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.,[300909],,,,,Acquired angioedema,TRUE,FALSE,Active +GARD:8606,Active,Orphanet,ORPHA:99742,Disorder,[Malformation syndrome],Amish lethal microcephaly,,"A very rare syndrome characterized by extreme microcephaly and early death, within the first year.",[607196],,,,,Amish lethal microcephaly,TRUE,FALSE,Active +GARD:8607,Legacy,GARD,,,,,,,,,,,,Familial partial paralysis,TRUE,FALSE,Active +GARD:8609,Active,Orphanet,ORPHA:2032,Disorder,[Disease],Idiopathic pulmonary fibrosis,[IPF],"An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause.","[178500, 616371, 616373]",,,,,Idiopathic pulmonary fibrosis,TRUE,FALSE,Active +GARD:8610,Active,Orphanet,ORPHA:199282,Disorder,[Disease],Harlequin syndrome,[Progressive isolated segmental anhidrosis],"Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.",,,,,,Harlequin syndrome,TRUE,FALSE,Active +GARD:8612,Legacy,GARD,,,,,,,,,,,,Primary hyperparathyroidism,TRUE,FALSE,Active +GARD:8614,Active,Orphanet,ORPHA:232,Disorder,[Disease],Sickle cell anemia,,"A severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events.",[603903],,,,,Sickle cell anemia,TRUE,FALSE,Active +GARD:8615,Legacy,GARD,,,,,,,,,,,,Paget disease of bone,FALSE,FALSE,Active +GARD:8616,Active,Orphanet,ORPHA:2467,Group of disorders,[Clinical group],Systemic mastocytosis,,"A heterogeneous group of rare, acquired and chronic hematological malignancies related to an abnormal accumulation/proliferation of neoplastic mast cells (MCs) in one or several organs, mainly the bone marrow (BM), associated frequently with skin involvement.",,,,,,Systemic mastocytosis,TRUE,FALSE,Active +GARD:8618,Active,Orphanet,ORPHA:824,Disorder,[Disease],Primary myelofibrosis,"[Agnogenic myeloid metaplasia, Idiopathic myelofibrosis, Myelofibrosis with myeloid metaplasia, Osteomyelofibrosis]","A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.",[254450],,,,,Primary myelofibrosis,TRUE,FALSE,Active +GARD:8620,Legacy,GARD,,,,,,,,,,,,Glomus vagale tumor,TRUE,FALSE,Active +GARD:8621,Active,Orphanet,ORPHA:39044,Disorder,[Disease],Uveal melanoma,"[Choroidal melanoma, Iris melanoma]","Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.","[606661, 155720, 606660]",,,,,Intraocular melanoma,TRUE,FALSE,Active +GARD:8622,Active,Orphanet,ORPHA:169105,Disorder,[Disease],Good syndrome,[Thymoma-immunodeficiency syndrome],"Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.",,,,,,Immunodeficiency with thymoma,TRUE,FALSE,Active +GARD:8623,Active,Orphanet,ORPHA:2521,Disorder,[Malformation syndrome],Microcephaly-cleft palate-abnormal retinal pigmentation syndrome,,"Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.",,,,,,Halal syndrome,TRUE,FALSE,Active +GARD:8625,Active,Orphanet,ORPHA:33355,Disorder,[Disease],Reticular dysgenesis,"[AK2 deficiency, Congenital aleukocytosis, De Vaal disease, Generalized hematopoietic hypoplasia, SCID with leukopenia, Severe combined immunodeficiency with leukopenia]",Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.,[267500],,,,,Reticular dysgenesis,TRUE,FALSE,Active +GARD:8627,Legacy,GARD,,,,,,,,,,,,Krukenberg carcinoma,TRUE,FALSE,Active +GARD:8629,Legacy,GARD,,,,,,,,,,,,Acute hemorrhagic leukoencephalitis,TRUE,FALSE,Active +GARD:863,Legacy,GARD,,,,,,,,,,,,IgA nephropathy,TRUE,FALSE,Active +GARD:8630,Legacy,GARD,,,,,,,,,,,,Chromosome 10q duplication,TRUE,FALSE,Active +GARD:8631,Active,Orphanet,ORPHA:1598,Disorder,[Disease],Monosomy 18p,"[18p- syndrome, De Grouchy syndrome]",Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.,[146390],,,,,Chromosome 18p deletion,TRUE,FALSE,Active +GARD:8635,Legacy,GARD,,,,,,,,,,,,2-hydroxyethyl methacrylate sensitization,TRUE,FALSE,Active +GARD:8638,Active,Orphanet,ORPHA:86851,Group of disorders,[Category],Acute leukemia of ambiguous lineage,"[Acute leukemia of indeterminate lineage, Hybrid acute leukemia, Mixed lineage acute leukemia]",,[601626],,,,,Acute leukemia of ambiguous lineage,TRUE,FALSE,Active +GARD:8639,Active,Orphanet,ORPHA:83597,Disorder,[Disease],Acute disseminated encephalomyelitis,"[ADEM, Acute disseminated encephalitis]",A demyelinating disorder of the central nervous system.,,,,,,Acute disseminated encephalomyelitis,TRUE,FALSE,Active +GARD:8640,Active,Orphanet,ORPHA:284454,Disorder,[Disease],Acute zonal occult outer retinopathy,[AZOOR],"A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal pigment epithelial disturbances tend to develop over time. Individuals also often complain of distortion of central vision, photophobia and difficulty with night vision, with more advanced cases reporting loss of peripheral vision.",,,,,,Acute zonal occult outer retinopathy,TRUE,FALSE,Active +GARD:8641,Legacy,GARD,,,,,,,,,,,,Adnexal spiradenoma/cylindroma of a sweat gland,TRUE,FALSE,Active +GARD:8642,Legacy,GARD,,,,,,,,,,,,Granulosa cell tumor of the ovary,TRUE,FALSE,Active +GARD:8644,Active,Orphanet,ORPHA:210122,Disorder,[Disease],Congenital alveolar capillary dysplasia,"[ACDMPV, Alveolar capillary dysplasia with misalignment of pulmonary veins, Alveolar capillary dysplasia with misalignment of pulmonary vessels]",Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.,[265380],,,,,Alveolar capillary dysplasia,TRUE,FALSE,Active +GARD:8646,Legacy,GARD,,,,,,,,,,,,Aneurysmal bone cysts,TRUE,FALSE,Active +GARD:8648,Legacy,GARD,,,,,,,,,,,,Desmoplastic infantile ganglioglioma,TRUE,FALSE,Active +GARD:8649,Legacy,GARD,,,,,,,,,,,,Benign eccrine spiradenoma,TRUE,FALSE,Active +GARD:8650,Legacy,GARD,,,,,,,,,,,,Embryonal sarcoma,TRUE,FALSE,Active +GARD:8651,Legacy,GARD,,,,,,,,,,,,Enlarged vestibular aqueduct syndrome,TRUE,FALSE,Active +GARD:8653,Active,Orphanet,ORPHA:90000,Disorder,[Disease],Erythema elevatum diutinum,,"Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.",,,,,,Erythema elevatum diutinum,TRUE,FALSE,Active +GARD:8655,Legacy,GARD,,,,,,,,,,,,Familial interstitial fibrosis,TRUE,FALSE,Retired +GARD:8658,Legacy,GARD,,,,,,,,,,,,Glomus tympanicum tumor,TRUE,FALSE,Active +GARD:8659,Active,Orphanet,ORPHA:93323,Disorder,[Morphological anomaly],Fibular hemimelia,"[Congenital longitudinal deficiency of the fibula, Fibular longitudinal meromelia]","A rare congenital limb malformation characterized by complete or partial absence of the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot.",,,,,,Fibular hemimelia,TRUE,FALSE,Active +GARD:8660,Active,Orphanet,ORPHA:221117,Disorder,[Disease],Gerstmann syndrome,,"Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.",,,,,,Gerstmann syndrome,TRUE,FALSE,Active +GARD:8661,Active,Orphanet,ORPHA:2368,Disorder,[Morphological anomaly],Gastroschisis,[Laparoschisis],"A rare abdominal wall malformation characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac.",[230750],,,,,Gastroschisis,TRUE,FALSE,Active +GARD:8662,Legacy,GARD,,,,,,,,,,,,Osteodysplasty precocious of Danks Mayne and Kozlowski,TRUE,FALSE,Active +GARD:8663,Active,Orphanet,ORPHA:114,Disorder,[Malformation syndrome],Auriculoosteodysplasia,,"A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.",[109000],,,,,Auriculoosteodysplasia,TRUE,FALSE,Active +GARD:8667,Legacy,GARD,,,,,,,,,,,, Chondrodysplasia,TRUE,FALSE,Retired +GARD:8668,Legacy,GARD,,,,,,,,,,,,Chromosome 22q deletion,TRUE,FALSE,Active +GARD:8669,Legacy,GARD,,,,,,,,,,,,Chromosome 1q deletion,TRUE,FALSE,Active +GARD:867,Active,Orphanet,ORPHA:133,Disorder,[Disease],Chronic beryllium disease,"[Berylliosis, Chronic berylliosis, Chronic beryllium lung disease]","A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.",,,,,,Beryllium disease,TRUE,FALSE,Active +GARD:8672,Active,Orphanet,ORPHA:261494,Disorder,[Malformation syndrome],Kleefstra syndrome,,"A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial appearance with a spectrum of additional clinical features.",[610253],,,,,Kleefstra syndrome,TRUE,FALSE,Active +GARD:8676,Legacy,GARD,,,,,,,,,,,,Weber syndrome,TRUE,FALSE,Active +GARD:8677,Legacy,GARD,,,,,,,,,,,,Y chromosome pericentric inversion,TRUE,FALSE,Retired +GARD:8680,Legacy,GARD,,,,,,,,,,,,Benign mesonephroma,TRUE,FALSE,Active +GARD:8683,Active,Orphanet,ORPHA:79235,Subtype of disorder,[Clinical subtype],Crigler-Najjar syndrome type 2,"[Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2, Bilirubin-UGT deficiency type 2]","A form of Crigler Najjar syndrome (CNS), a rare hereditary disorder of bilirubin metabolism, characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated jaundice with a risk of developing bilirubin encephalopathy later in life due to triggers such as stress or infection.",[606785],,,,,Crigler-Najjar syndrome type 2,TRUE,FALSE,Active +GARD:8684,Legacy,GARD,,,,,,,,,,,,Symmastia,TRUE,FALSE,Active +GARD:8685,Legacy,GARD,,,,,,,,,,,,Stachybotrys chartarum,TRUE,FALSE,Active +GARD:8686,Active,Orphanet,ORPHA:3261,Disorder,[Disease],Autoimmune lymphoproliferative syndrome,"[ALPS, Canale-Smith syndrome]","A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.","[603909, 618534, 601859, 615559]",,,,,Autoimmune lymphoproliferative syndrome,TRUE,FALSE,Active +GARD:8687,Legacy,GARD,,,,,,,,,,,,Non-A-E hepatitis,TRUE,FALSE,Active +GARD:8689,Active,Orphanet,ORPHA:94075,Group of disorders,[Category],Severe immune-mediated enteropathy,"[Autoimmune enteropathy, Immune-mediated protracted diarrhea of infancy]","Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.",,,,,,Autoimmune enteropathy,TRUE,FALSE,Active +GARD:869,Active,Orphanet,ORPHA:118,Disorder,[Disease],Beta-mannosidosis,[Beta-mannosidase deficiency],"Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.",[248510],,,,,"Mannosidosis, beta A, lysosomal",TRUE,FALSE,Active +GARD:8692,Active,Orphanet,ORPHA:1489,Disorder,[Disease],Whooping cough,[Pertussis],"A rare bacterial infectious disease characterized by severe coughing paroxysms with inspiratory whooping and posttussive vomiting, caused by infection with Bordetella pertussis. After a variable incubation time, the clinical course progresses through a catarrhal stage with sore throat, nasal congestion, rhinorrhea, and mild progressive dry cough, a paroxysmal stage with the typical paroxysmal coughing, and finally convalescence. Disease duration is usually 2-3 months, often with milder presentation in adolescents and adults than in infants and children.",,,,,,Whooping cough,TRUE,FALSE,Active +GARD:8694,Active,Orphanet,ORPHA:216796,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 1,"[Adair-Dighton syndrome, Mild osteogenesis imperfecta, Non-deforming osteogenesis imperfecta, OI type 1, Van der Hoeve syndrome]","A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures), normal height or short stature (typically between 0 and -2.0 SD scores), mild (Cobb angle <30 degrees) or no scoliosis, blue sclera, and in dentinogenesis imperfecta and mild long bone bowing bone deformities.","[166230, 166200]",,,,,Osteogenesis imperfecta type I,TRUE,FALSE,Active +GARD:8695,Active,Orphanet,ORPHA:216812,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 3,"[OI type 3, Progressive deforming osteogenesis imperfecta, Severe osteogenesis imperfecta]","A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta.","[613982, 614856, 613848, 259440, 616229, 610915, 615220, 610968, 259420, 610682]",,,,,Osteogenesis imperfecta type III,TRUE,FALSE,Active +GARD:8696,Active,Orphanet,ORPHA:216820,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 4,[OI type 4],"A moderately severe form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests from infancy as susceptibility to bone fractures, short stature, mild to moderate scoliosis in most, gray-blue or white sclera, and dentinogenesis imperfecta.","[613982, 259440, 166220, 615220, 610968, 616507, 613849, 615066, 610682]",,,,,Osteogenesis imperfecta type IV,TRUE,FALSE,Active +GARD:8697,Legacy,GARD,,,,,,,,,,,,Osteogenesis imperfecta type 1A,TRUE,FALSE,Retired +GARD:8698,Active,Orphanet,ORPHA:53697,Disorder,[Malformation syndrome],Gnathodiaphyseal dysplasia,[GDD],"Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.",[166260],,,,,Gnathodiaphyseal dysplasia,TRUE,FALSE,Active +GARD:8699,Active,Orphanet,ORPHA:216828,Subtype of disorder,[Clinical subtype],Osteogenesis imperfecta type 5,[OI type 5],"A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta.",[610967],,,,,Osteogenesis imperfecta type V,TRUE,FALSE,Active +GARD:87,Active,Orphanet,ORPHA:568,Disorder,[Malformation syndrome],"Microphthalmia, Lenz type",[Lenz microphthalmia],"A rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.","[300166, 309800]",,,,,Lenz microphthalmia syndrome,TRUE,FALSE,Active +GARD:870,Legacy,GARD,,,,,,,,,,,,Beta-sarcoglycanopathy,TRUE,FALSE,Active +GARD:8700,Active,Orphanet+OMIM,OMIM:613982,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type vi",,"Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder ({3:Glorieux et al., 2002}; {1:Becker et al., 2011}).",[613982],"[216820, 216812]","[Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[8695, 8696]",,Osteogenesis imperfecta type VI,TRUE,FALSE,Active +GARD:8701,Active,Orphanet+OMIM,OMIM:610682,Subtype of disorder,[Clinical subtype],"Osteogenesis imperfecta, type vii","[Oi, type vii, osteogenesis imperfecta, type iib, formerly]","Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by {2:Barnes et al., 2006}).",[610682],"[216820, 216804, 216812]","[Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 3]","[10142, 8695, 8696]",,Osteogenesis imperfecta type VII,TRUE,FALSE,Active +GARD:8702,Active,Orphanet,ORPHA:2134,Disorder,[Disease],Atypical hemolytic uremic syndrome,"[Atypical HUS, aHUS]","A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.","[235400, 615008, 612922, 612926, 612923, 612924, 609814, 612925]",,,,,Atypical hemolytic uremic syndrome,TRUE,FALSE,Active +GARD:8703,Active,Orphanet,ORPHA:140989,Disorder,[Disease],Primary angiitis of the central nervous system,"[Isolated angiitis of the central nervous system, PACNS, PCNSV, Primary central nervous system vasculitis, Primary vasculitis of the central nervous system]","A rare, medium or small vessel vasculitis characterized by focal and/or diffuse neurologic symptoms due to a documented arteritic process in the central nervous system, in the absence of other identified underlying cause (infectious, systemic, other neurologic diseases, etc.). It presents with non-specific symptoms of headache, stroke or transient ischemic attacks with cognitive impairment, hemiplegia, weakness, and rarely, with cranial nerve involvement, seizures and ataxia.",,,,,,Primary angiitis of the central nervous system,TRUE,FALSE,Active +GARD:8704,Legacy,GARD,,,,,,,,,,,,Benign angiitis of the central nervous system,TRUE,FALSE,Active +GARD:8705,Legacy,GARD,,,,,,,,,,,,Klinefelter syndrome,FALSE,FALSE,Active +GARD:8706,Legacy,GARD,,,,,,,,,,,,Stewart Treves syndrome,TRUE,FALSE,Active +GARD:8707,Active,Orphanet,ORPHA:93322,Disorder,[Morphological anomaly],Tibial hemimelia,"[Congenital absence of tibia, Congenital aplasia and dysplasia of the tibia with intact fibula, Congenital longitudinal deficiency of the tibia, Tibial longitudinal meromelia]",A rare congenital limb formation characterized by partial or complete absence of the tibia with a relatively intact fibula.,[275220],,,,,Absence of Tibia,TRUE,FALSE,Active +GARD:8708,Legacy,GARD,,,,,,,,,,,,Amyloid neuropathy,TRUE,FALSE,Active +GARD:8709,Active,Orphanet,ORPHA:86789,Disorder,[Morphological anomaly],Patella aplasia/hypoplasia,[PTLAH],Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.,[168860],,,,,Absent patella,TRUE,FALSE,Active +GARD:871,Active,Orphanet,ORPHA:848,Disorder,[Disease],Beta-thalassemia,,Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).,"[613985, 603902]",,,,,Beta-thalassemia,TRUE,FALSE,Active +GARD:8710,Legacy,GARD,,,,,,,,,,,,Passos-Bueno syndrome,TRUE,FALSE,Retired +GARD:8711,Active,Orphanet,ORPHA:268129,Disorder,[Disease],Spheroid body myopathy,,"Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.",[182920],,,,,Spheroid body myopathy,TRUE,FALSE,Active +GARD:8712,Legacy,GARD,,,,,,,,,,,,Hemoglobinemia,TRUE,FALSE,Retired +GARD:8713,Active,Orphanet,ORPHA:93296,Subtype of disorder,[Clinical subtype],Achondrogenesis type 2,"[Achondrogenesis, Langer-Saldino type]","A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.",[200610],,,,,Achondrogenesis type 2,TRUE,FALSE,Active +GARD:8717,Active,Orphanet,ORPHA:166272,Disorder,[Malformation syndrome],Odontochondrodysplasia,"[Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome, Goldblatt chondrodysplasia, Goldblatt syndrome, ODCD]","A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported.",[184260],,,,,Spondylometaphyseal dysplasia with dentinogenesis imperfecta,TRUE,FALSE,Active +GARD:8719,Active,Orphanet,ORPHA:168552,Disorder,[Disease],Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,,"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome is a rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.",[607543],,,,,Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism,TRUE,FALSE,Active +GARD:872,Active,Orphanet,ORPHA:134,Disorder,[Disease],Beta-ketothiolase deficiency,"[3-ketothiolase deficiency, 3-oxothiolase deficiency, Alpha methylacetoacetic aciduria, Alpha-methyl-acetoacetyl-CoA thiolase deficiency, Mitochondrial acetoacetyl-coenzyme A thiolase deficiency, T2 deficiency]","A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence.",[203750],,,,,Beta ketothiolase deficiency,TRUE,FALSE,Active +GARD:8720,Active,Orphanet,ORPHA:168549,Disorder,[Disease],Axial spondylometaphyseal dysplasia,,"Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.",[602271],,,,,Axial spondylometaphyseal dysplasia,TRUE,FALSE,Active +GARD:8721,Active,Orphanet,ORPHA:98809,Disorder,[Disease],Paroxysmal kinesigenic dyskinesia,"[Familial PKD, Familial paroxysmal kinesigenic dyskinesia, Paroxysmal kinesigenic choreathetosis]","Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.","[611031, 128200]",,,,,Paroxysmal kinesigenic choreoathetosis,TRUE,FALSE,Active +GARD:8722,Active,Orphanet,ORPHA:98810,Disorder,[Disease],Paroxysmal non-kinesigenic dyskinesia,[Paroxystic non-kinesigenic choreoathetosis],"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.","[611147, 118800]",,,,,Paroxysomal nonkinesigenic dyskinesia,TRUE,FALSE,Active +GARD:8723,Active,Orphanet,ORPHA:86841,Disorder,[Disease],Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,[5q- syndrome],"A rare myelodysplastic syndrome characterized by macrocytic anemia (with or without other cytopenias and/or thrombocytosis), and with del(5q) occurring either in isolation, or with one other cytogenetic abnormality, other than monosomy 7 or del(7q). The bone marrow is typically hypercellular with erythroid hypoplasia and increased numbers of megakaryocytes, which show non-lobated and hypolobated nuclei. Myeloblasts constitute less than 5% of the nucleated bone marrow cells and less than 1% of the peripheral blood leukocytes. Auer rods are absent. Ring sideroblasts may be observed. Patients present with anemia and often thrombocytosis, while thrombocytopenia or pancytopenia are uncommon. Transformation to acute myeloid leukemia may occur in a small number of patients.",[153550],,,,,5q- syndrome,TRUE,FALSE,Active +GARD:8724,Legacy,GARD,,,,,,,,,,,,"Torticollis, familial",TRUE,FALSE,Retired +GARD:8729,Legacy,GARD,,,,,,,,,,,,Neurosyphilis,TRUE,FALSE,Active +GARD:873,Active,Orphanet,ORPHA:610,Disorder,[Disease],Bethlem myopathy,[Benign autosomal dominant myopathy],Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.,"[616471, 158810]",,,,,Bethlem myopathy,TRUE,FALSE,Active +GARD:8730,Legacy,GARD,,,,,,,,,,,,Syphilitic myelopathy,TRUE,FALSE,Active +GARD:8731,Legacy,GARD,,,,,,,,,,,,Syphilitic aseptic meningitis,TRUE,FALSE,Active +GARD:8732,Active,Orphanet,ORPHA:98879,Disorder,[Disease],Hemophilia B,"[Christmas disease, Congenital F9 deficiency, Congenital factor IX deficiency]",A rare hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.,[306900],,,,,Hemophilia B,TRUE,FALSE,Active +GARD:8735,Active,Orphanet,ORPHA:247667,Subtype of disorder,[Clinical subtype],Childhood-onset hypophosphatasia,"[Childhood-onset Rathbun disease, Childhood-onset phosphoethanolaminuria]","A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.",[241510],,,,,Childhood hypophosphatasia,TRUE,FALSE,Active +GARD:8737,Active,Orphanet,ORPHA:33208,Disorder,[Disease],Idiopathic hypersomnia,[Idiopathic excessive sleepiness],"A rare neurologic disease characterized by an excessive daytime sleepiness with long and unrefreshing naps, and/or prolonged and undisturbed nocturnal sleep, impaired daytime alertness, and/or sleep inertia (ie, great difficulty in waking up after sleep) and where other causes have been excluded.",,,,,,Idiopathic hypersomnia,TRUE,FALSE,Active +GARD:8740,Legacy,GARD,,,,,,,,,,,,"Pulmonary artery, unilateral absence of (UAPA)",FALSE,FALSE,Retired +GARD:8741,Legacy,GARD,,,,,,,,,,,,Unilateral absence of a pulmonary artery,TRUE,FALSE,Active +GARD:8742,Legacy,GARD,,,,,,,,,,,,Limbic encephalitis,TRUE,FALSE,Active +GARD:8743,Active,Orphanet+OMIM,OMIM:603194,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 2","[Meckel-gruber syndrome, type 2]","Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 ({249000}).",[603194],[564],[Meckel syndrome],[3436],,Meckel syndrome type 2,TRUE,FALSE,Active +GARD:8744,Active,Orphanet+OMIM,OMIM:607361,Subtype of disorder,[Malformation syndrome subtype],"Meckel syndrome, type 3","[Meckel-gruber syndrome, type 3]","Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by {7:Smith et al., 2006}).\n\nFor a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 ({249000}).",[607361],[564],[Meckel syndrome],[3436],,Meckel syndrome type 3,TRUE,FALSE,Active +GARD:8745,Legacy,GARD,,,,,,,,,,,,Marinesco-Sjogren-like syndrome (MSLS),TRUE,FALSE,Active +GARD:8746,Legacy,GARD,,,,,,,,,,,,"Sjogren's syndrome, juvenile, secondary to autoimmune disease",TRUE,FALSE,Active +GARD:8748,Legacy,GARD,,,,,,,,,,,,"Camurati Engelmann disease, type 2",TRUE,FALSE,Active +GARD:8749,Legacy,GARD,,,,,,,,,,,,Central pontine myelinolysis,FALSE,FALSE,Active +GARD:875,Legacy,GARD,,,,,,,,,,,,Bhaskar Jagannathan syndrome,TRUE,FALSE,Retired +GARD:8750,Legacy,GARD,,,,,,,,,,,,"Coxa vara, congenital",TRUE,FALSE,Active +GARD:8754,Active,Orphanet,ORPHA:1426,Disorder,[Disease],Greenberg dysplasia,"[HEM dysplasia, Hydrops-ectopic calcification-motheaten syndrome, Skeletal dysplasia, Greenberg type]","Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.",[215140],,,,,Greenberg dysplasia,TRUE,FALSE,Active +GARD:8755,Active,Orphanet,ORPHA:1135,Disorder,[Malformation syndrome],Arrhinia-choanal atresia-microphthalmia syndrome,,"A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.",[603457],,,,,Arhinia choanal atresia microphthalmia,TRUE,FALSE,Active +GARD:8756,Active,Orphanet,ORPHA:1187,Disorder,[Disease],Lethal ataxia with deafness and optic atrophy,"[Arts syndrome, Lethal ataxia with hearing loss and optic atrophy]","Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.",[301835],,,,,Arts syndrome,TRUE,FALSE,Active +GARD:8757,Active,Orphanet,ORPHA:64742,Disorder,[Disease],Pleuropulmonary blastoma,,"A rare respiratory tumor characterized by an aggressive, malignant, dysontogenetic neoplasm of intrathoracic (pulmonary, pleural, or combined) mesenchyme occurring in young children. Three subtypes can be distinguished, type 1 being purely cystic, type 2 cystic and solid, and type 3 purely solid. Type 1 lesions may progress to the more malignant types 2 and 3, which are associated with central nervous system and bone metastasis. The tumor is often part of pleuropulmonary blastoma family tumor and dysplasia syndrome. It can also be associated with multilocular cystic nephroma or other neoplasms. Patients usually present with dyspnea or other respiratory problems, and sometimes pneumothorax.",[601200],,,,,Pleuropulmonary blastoma,TRUE,FALSE,Active +GARD:8759,Active,Orphanet,ORPHA:99922,Disorder,[Disease],Ocular cicatricial pemphigoid,,"A rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease.",,,,,,Ocular cicatricial pemphigoid,TRUE,FALSE,Active +GARD:8761,Legacy,GARD,,,,,,,,,,,,Keshan disease,TRUE,FALSE,Active +GARD:878,Legacy,GARD,,,,,,,,,,,,Bidirectional tachycardia,TRUE,FALSE,Active +GARD:88,Active,Orphanet,ORPHA:2900,Disorder,[Malformation syndrome],Leri pleonosteosis,,"Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.",[151200],,,,,Leri pleonosteosis,TRUE,FALSE,Active +GARD:881,Legacy,GARD,,,,,,,,,,,,Biemond syndrome type 1,TRUE,FALSE,Active +GARD:882,Active,Orphanet,ORPHA:141333,Disorder,[Disease],Biemond syndrome type 2,[Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome],"Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.",[210350],,,,,Biemond syndrome 2,TRUE,FALSE,Active +GARD:883,Legacy,GARD,,,,,,,,,,,,Biermer disease,TRUE,FALSE,Draft +GARD:884,Active,Orphanet,ORPHA:2695,Disorder,[Malformation syndrome],Bifid nose,,Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.,"[210400, 109740]",,,,,Bifid nose,TRUE,FALSE,Active +GARD:885,Legacy,GARD,,,,,,,,,,,,Bilateral renal agenesis dominant type,TRUE,FALSE,Active +GARD:886,Legacy,GARD,,,,,,,,,,,,Biliary atresia extrahepatic,TRUE,FALSE,Retired +GARD:887,Legacy,GARD,,,,,,,,,,,,Biliary atresia intrahepatic non syndromic form,TRUE,FALSE,Active +GARD:888,Legacy,GARD,,,,,,,,,,,,Biliary atresia intrahepatic syndromic form,TRUE,FALSE,Active +GARD:89,Legacy,GARD,,,,,,,,,,,,Gastric Non-Hodgkin Lymphoma,TRUE,FALSE,Active +GARD:892,Legacy,GARD,,,,,,,,,,,,Billet Bear syndrome,TRUE,FALSE,Active +GARD:893,Active,Orphanet,ORPHA:3304,Disorder,[Malformation syndrome],Fallot complex-intellectual disability-growth delay syndrome,[Bindewald-Ulmer-Müller syndrome],"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.",[601127],,,,,Fallot complex with severe mental and growth retardation,TRUE,FALSE,Active +GARD:894,Active,Orphanet,ORPHA:79241,Disorder,[Disease],Biotinidase deficiency,"[Juvenile-onset multiple carboxylase deficiency, Late-onset multiple carboxylase deficiency]","A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.",[253260],,,,,Biotinidase deficiency,TRUE,FALSE,Active +GARD:895,Active,Orphanet,ORPHA:2617,Disorder,[Malformation syndrome],"Microcephalic primordial dwarfism, Montreal type","[Bird-headed dwarfism, Montreal type]","A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.",[210700],,,,,"Microcephalic primordial dwarfism, Montreal type",TRUE,FALSE,Active +GARD:897,Active,Orphanet,ORPHA:2213,Disorder,[Malformation syndrome],Hypertelorism-microtia-facial clefting syndrome,"[Bixler-Christian-Gorlin syndrome, HMC syndrome]","Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.",[239800],,,,,Bixler Christian Gorlin syndrome,TRUE,FALSE,Active +GARD:898,Legacy,GARD,,,,,,,,,,,,Blaichman syndrome,TRUE,FALSE,Retired +GARD:901,Legacy,GARD,,,,,,,,,,,,Blepharofacioskeletal syndrome,TRUE,FALSE,Retired +GARD:902,Legacy,GARD,,,,,,,,,,,,Blepharo naso facial syndrome Van maldergem type,TRUE,FALSE,Active +GARD:905,Active,Orphanet,ORPHA:2057,Disorder,[Malformation syndrome],Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,[Frydman-Cohen-Karmon syndrome],"A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.",[210745],,,,,"Blepharophimosis with ptosis, syndactyly, and short stature",TRUE,FALSE,Active +GARD:91,Legacy,GARD,,,,,,,,,,,,"Malignant melanoma, childhood",TRUE,FALSE,Active +GARD:9118,Active,Orphanet,ORPHA:3337,Disorder,[Disease],Primary Fanconi renotubular syndrome,"[DeToni-Debré-Fanconi syndrome, Primary Fanconi renal syndrome]","A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening.","[618913, 134600, 615605, 613388]",,,,,Fanconi syndrome,TRUE,FALSE,Active +GARD:9119,Active,Orphanet,ORPHA:984,Disorder,[Morphological anomaly],Pulmonary agenesis,,"A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.",,,,,,Lung agenesis,TRUE,FALSE,Active +GARD:912,Active,Orphanet,ORPHA:1259,Disorder,[Disease],Blepharoptosis-myopia-ectopia lentis syndrome,,"A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.",[110150],,,,,Blepharoptosis myopia ectopia lentis,TRUE,FALSE,Active +GARD:9120,Legacy,GARD,,,,,,,,,,,,Fanconis syndrome,TRUE,FALSE,Retired +GARD:9124,Active,Orphanet,ORPHA:861,Disorder,[Malformation syndrome],Treacher-Collins syndrome,"[Franceschetti-Klein syndrome, Mandibulofacial dysostosis without limb anomalies]","A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal.","[613717, 154500, 248390, 618939]",,,,,Treacher Collins syndrome,TRUE,FALSE,Active +GARD:9125,Active,Orphanet+OMIM,OMIM:248390,Subtype of disorder,[Malformation syndrome subtype],Treacher collins syndrome 3,"[Mandibulofacial dysostosis, treacher collins type, autosomal recessive]","Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss ({1:Dauwerse et al., 2011}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 ({154500}).",[248390],[861],[Treacher-Collins syndrome],[9124],,Treacher Collins syndrome 3,TRUE,FALSE,Active +GARD:9126,Active,Orphanet,ORPHA:990,Disorder,[Malformation syndrome],Agnathia-holoprosencephaly-situs inversus syndrome,,"An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.",[202650],,,,,Dysgnathia complex,TRUE,FALSE,Active +GARD:9128,Active,Orphanet,ORPHA:98482,Group of disorders,[Category],Idiopathic inflammatory myopathy,"[IMM, Idiopathic inflammatory myositis]",,,,,,,Idiopathic inflammatory myopathy,TRUE,FALSE,Active +GARD:9129,Legacy,GARD,,,,,,,,,,,,"Minicore myopathy, antenatal onset, with arthrogryposis",TRUE,FALSE,Active +GARD:9130,Legacy,GARD,,,,,,,,,,,,Multicore disease,TRUE,FALSE,Active +GARD:9131,Legacy,GARD,,,,,,,,,,,,Infective myositis,TRUE,FALSE,Active +GARD:9132,Legacy,GARD,,,,,,,,,,,,Adult progressive spinal muscular atrophy Aran Duchenne type,TRUE,FALSE,Active +GARD:9133,Legacy,GARD,,,,,,,,,,,,Pseudomyotonia,TRUE,FALSE,Retired +GARD:9134,Legacy,GARD,,,,,,,,,,,,Congenital myotonic dystrophy,TRUE,FALSE,Active +GARD:9135,Legacy,GARD,,,,,,,,,,,,Muscular Dystrophy - Late Onset,TRUE,FALSE,Draft +GARD:9136,Legacy,GARD,,,,,,,,,,,,Ocular Muscular Dystrophy,TRUE,FALSE,Active +GARD:9137,Legacy,GARD,,,,,,,,,,,,Ophthalmoplegic Muscular dystrophy,TRUE,FALSE,Retired +GARD:9138,Active,Orphanet,ORPHA:97242,Group of disorders,[Category],Congenital muscular dystrophy,"[CMD, MDC]","Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms).",,,,,,Congenital muscular dystrophy,TRUE,FALSE,Active +GARD:9139,Legacy,GARD,,,,,,,,,,,,Progestogen hypersensitivity,TRUE,FALSE,Active +GARD:914,Active,Orphanet,ORPHA:50945,Disorder,[Malformation syndrome],Blomstrand lethal chondrodysplasia,"[BLC, BOCD, Blomstrand chondrodysplasia, Blomstrand osteochondrodysplasia, Chondrodysplasia, Blomstrand type]","Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.",[215045],,,,,Chondrodysplasia Blomstrand type,TRUE,FALSE,Active +GARD:9142,Active,Orphanet,ORPHA:2070,Disorder,[Disease],Eosinophilic gastroenteritis,"[EGE, Eosinophilic enteritis, Eosinophilic gastroenterocolitis]","A rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.",,,,,,Eosinophilic gastroenteritis,TRUE,FALSE,Active +GARD:9143,Legacy,GARD,,,,,,,,,,,,Retinoschisis of Fovea,TRUE,FALSE,Active +GARD:9144,Legacy,GARD,,,,,,,,,,,,Retinoschisis autosomal dominant,TRUE,FALSE,Active +GARD:9145,Active,Orphanet,ORPHA:171871,Subtype of disorder,[Clinical subtype],Renal pseudohypoaldosteronism type 1,"[Autosomal dominant PHA1, Autosomal dominant pseudohypoaldosteronism type 1, Renal PHA1]","A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels.",[177735],,,,,Autosomal dominant pseudohypoaldosteronism type 1,TRUE,FALSE,Active +GARD:9146,Active,Orphanet,ORPHA:1340,Disorder,[Malformation syndrome],Cardiofaciocutaneous syndrome,[CFC syndrome],"A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability.","[615280, 615278, 615279, 115150]",,,,,Cardiofaciocutaneous syndrome,TRUE,FALSE,Active +GARD:9147,Legacy,GARD,,,,,,,,,,,,Minimal change disease,TRUE,FALSE,Active +GARD:9148,Legacy,GARD,,,,,,,,,,,,Pelger-Huet anomaly,TRUE,FALSE,Active +GARD:9149,Active,Orphanet+OMIM,OMIM:180100,Subtype of disorder,[Disease subtype],Retinitis pigmentosa 1,,,[180100],[791],[Retinitis pigmentosa],[5694],,Retinitis pigmentosa 1,TRUE,FALSE,Active +GARD:915,Active,Orphanet,ORPHA:125,Disorder,[Disease],Bloom syndrome,[BSyn],"Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.",[210900],,,,,Bloom syndrome,TRUE,FALSE,Active +GARD:9151,Active,Orphanet+OMIM,OMIM:210210,Subtype of disorder,[Disease subtype],3-methylcrotonyl-coa carboxylase 2 deficiency,"[3-methylcrotonylglycinuria ii, Mcc2 deficiency, methylcrotonylglycinuria, type ii]",,[210210],[6],[3-methylcrotonyl-CoA carboxylase deficiency],[10954],,3 alpha methylcrotonyl-CoA carboxylase 2 deficiency,TRUE,FALSE,Retired +GARD:9152,Active,Orphanet,ORPHA:90791,Disorder,[Disease],Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,[CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency],"A rare form of congenital adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms, including glucocorticoid and mineralocorticoid deficiencies in both sexes. Salt wasting can lead to dehydration and hypotension in the first few weeks of life. Affected males had undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. Females show normal or mildly virilized external genitalia (mild clitoromegaly, labial fusion) due to dehydroepiandrosterone (DHEA) accumulation and conversion to androgens by the normal HSD3B1.",[201810],,,,,3-beta-hydroxysteroid dehydrogenase deficiency,TRUE,FALSE,Active +GARD:9154,Legacy,GARD,,,,,,,,,,,,Acetyl CoA acetyltransferase 2 deficiency,TRUE,FALSE,Active +GARD:9155,Legacy,GARD,,,,,,,,,,,,"Mental retardation X-linked, South African type",TRUE,FALSE,Retired +GARD:9156,Active,Orphanet,ORPHA:85274,Disorder,[Malformation syndrome],Syndromic X-linked intellectual disability 7,"[MRXS7, X-linked intellectual disability, Ahmad type]","A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional varible manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.",[300218],,,,,Syndromic X-linked intellectual disability 7,TRUE,FALSE,Active +GARD:9157,Active,Orphanet,ORPHA:85273,Disorder,[Malformation syndrome],"X-linked intellectual disability, Abidi type",,"X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.",[300262],,,,,"X-linked intellectual disability, Abidi type",TRUE,FALSE,Active +GARD:9158,Active,Orphanet,ORPHA:53347,Disorder,[Disease],Brody myopathy,,"A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without ATP2A1 mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common.",[601003],,,,,Brody myopathy,TRUE,FALSE,Active +GARD:9159,Active,Orphanet+OMIM,OMIM:300018,Subtype of disorder,[Malformation syndrome subtype],"46,xy sex reversal 2","[dosage-sensitive sex reversal, 46,xy sex reversal, dax1-related]",,[300018],"[251510, 242]","[46,XY partial gonadal dysgenesis, 46,XY complete gonadal dysgenesis]","[17211, 5068]",,Dosage-sensitive sex reversal,TRUE,FALSE,Active +GARD:916,Active,Orphanet,ORPHA:2768,Disorder,[Malformation syndrome],Blount disease,"[Infantile tibia vara, Osteochondrosis deformans tibiae, Tibia vara Blount]","Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.","[259200, 188700]",,,,,Blount disease,TRUE,FALSE,Active +GARD:9161,Active,Orphanet,ORPHA:79280,Subtype of disorder,[Clinical subtype],Alpha-N-acetylgalactosaminidase deficiency type 2,"[Adult-onset Alpha-N-acetylgalactosaminidase deficiency, Kanzaki disease, NAGA deficiency type 2, Schindler disease type 2]",A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.,[609242],,,,,Kanzaki disease,TRUE,FALSE,Active +GARD:9162,Legacy,GARD,,,,,,,,,,,,Fallopian tube cancer,TRUE,FALSE,Active +GARD:9163,Active,Orphanet,ORPHA:353298,Disorder,[Disease],Roifman syndrome,[Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome],"A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.",[616651],,,,,Roifman syndrome,TRUE,FALSE,Active +GARD:9164,Active,Orphanet,ORPHA:97238,Disorder,[Disease],Rippling muscle disease,,"Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.","[606072, 600332]",,,,,Rippling muscle disease,TRUE,FALSE,Active +GARD:9165,Active,Orphanet+OMIM,OMIM:600332,Subtype of disorder,[Disease subtype],Rippling muscle disease 1,,"For a phenotypic description and a discussion of genetic heterogeneity of rippling muscle disease, see RMD2 ({606072}).",[600332],[97238],[Rippling muscle disease],[9164],,"Rippling muscle disease, 1",TRUE,FALSE,Active +GARD:9166,Active,Orphanet+OMIM,OMIM:606282,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 24",,,[606282],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 24",TRUE,FALSE,Active +GARD:9167,Active,Orphanet+OMIM,OMIM:606346,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 22",,,[606346],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 22",TRUE,FALSE,Active +GARD:9168,Active,Orphanet,ORPHA:85195,Disorder,[Disease],Familial expansile osteolysis,"[Hereditary expansile polyostotic osteolytic dysplasia, McCabe disease]","A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant.",[174810],,,,,"Polyostotic osteolytic dysplasia, hereditary expansile",TRUE,FALSE,Active +GARD:9169,Active,Orphanet,ORPHA:97346,Subtype of disorder,[Clinical subtype],ADan amyloidosis,"[Familial dementia, Danish type]","A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.",[117300],,,,,"Dementia, familial Danish",TRUE,FALSE,Active +GARD:917,Active,Orphanet,ORPHA:16,Disorder,[Disease],Blue cone monochromatism,"[Atypical X-linked achromatopsia, Blue cone monochromacy, Color blindness, blue monocone monochromatic type, S cone monochromacy, S cone monochromatism, X-linked incomplete achromatopsia]","Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).",[303700],,,,,Blue cone monochromatism,TRUE,FALSE,Active +GARD:9170,Active,Orphanet,ORPHA:55654,Disorder,[Disease],Hypotrichosis simplex,[Hereditary hypotrichosis simplex],"Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.","[278150, 615059, 607903, 604379, 614237, 615885, 614238, 605389, 618275]",,,,,Hypotrichosis simplex,TRUE,FALSE,Active +GARD:9171,Legacy,GARD,,,,,,,,,,,,Iris hypoplasia and glaucoma,TRUE,FALSE,Active +GARD:9172,Active,Orphanet+OMIM,OMIM:148700,Subtype of disorder,[Disease subtype],"Palmoplantar keratoderma i, striate, focal, or diffuse","[Keratosis palmoplantaris striata i, striate palmoplantar keratoderma i, keratoderma, palmoplantar, striate form i]","Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by {6:Hunt et al., 2001}). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported ({7:Keren et al., 2005}; {8:Milingou et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Keratosis Palmoplantaris Striata\n\nType II PPKS (PPKS2; {612908}) is caused by mutation in the DSP gene ({125647}) on chromosome 6.\n\nType III PPKS (PPKS3; {607654}) is caused by mutation in the keratin-1 gene (KRT1; {139350}) on chromosome 12q.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK ({144200}).\n\n{9:Nitoiu et al. (2014)} reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSG1 and DSP genes.",[148700],[50942],[Striate palmoplantar keratoderma],[15016],,Keratosis palmoplantaris striata 1,TRUE,FALSE,Active +GARD:9173,Active,Orphanet+OMIM,OMIM:607654,Subtype of disorder,[Disease subtype],Keratosis palmoplantaris striata iii,"[Striate palmoplantar keratoderma iii, keratoderma, palmoplantar, striate form iii]",,[607654],[50942],[Striate palmoplantar keratoderma],[15016],,Keratosis palmoplantaris striata 3,TRUE,FALSE,Active +GARD:9174,Active,Orphanet,ORPHA:306674,Disorder,[Disease],Kufor-Rakeb syndrome,[PARK9],"Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.",[606693],,,,,Parkinson disease type 9,TRUE,FALSE,Active +GARD:9175,Active,Orphanet,ORPHA:171695,Disorder,[Disease],Parkinsonian-pyramidal syndrome,[Pallidopyramidal syndrome],"Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).","[260300, 168100, 168601]",,,,,Pallidopyramidal syndrome,TRUE,FALSE,Active +GARD:9176,Active,Orphanet,ORPHA:69126,Disorder,[Disease],Pyogenic arthritis-pyoderma gangrenosum-acne syndrome,"[FRA, Familial recurrent arthritis, PAPA syndrome]","Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.",[604416],,,,,"Pyogenic arthritis, pyoderma gangrenosum and acne",TRUE,FALSE,Active +GARD:9177,Active,Orphanet,ORPHA:137776,Disorder,[Malformation syndrome],Lethal congenital contracture syndrome type 2,"[LCCS2, Multiple contracture syndrome, Israeli-Bedouin type]","Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.",[607598],,,,,Lethal congenital contracture syndrome 2,TRUE,FALSE,Active +GARD:9178,Active,Orphanet,ORPHA:85282,Disorder,[Malformation syndrome],MEHMO syndrome,[X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome],"A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present.",[300148],,,,,MEHMO syndrome,TRUE,FALSE,Active +GARD:9179,Active,Orphanet,ORPHA:75327,Disorder,[Disease],North Carolina macular dystrophy,"[CAPE dystrophy, CAPED, Central areolar pigment epithelial dystrophy, Central retinal pigment epithelial dystrophy, MCDR1, NCMD, North Carolina macular dystrophy, retinal 1, Progressive foveal dystrophy]","A non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.",[136550],,,,,North Carolina macular dystrophy,TRUE,FALSE,Active +GARD:918,Active,Orphanet,ORPHA:1292,Disorder,[Malformation syndrome],Brachymorphism-onychodysplasia-dysphalangism syndrome,"[BOD syndrome, Senior syndrome]","A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.",[113477],,,,,BOD syndrome,TRUE,FALSE,Active +GARD:9180,Active,Orphanet,ORPHA:97560,Disorder,[Disease],Primary membranous glomerulonephritis,"[Idiopathic membranous glomerulonephritis, Primary membranous nephropathy]","A rare glomerular disease, histologically characterized by thickening of the capillary wall, with immune deposits predominantly containing IgG4 and C3 on the sub-epithelial side, and typically manifesting with nephrotic syndrome.",[614692],,,,,Membranous nephropathy,TRUE,FALSE,Active +GARD:9181,Active,Orphanet,ORPHA:86,Disorder,[Disease],Familial abdominal aortic aneurysm,,,"[611891, 100070, 614375, 609782]",,,,,Abdominal aortic aneurysm,TRUE,FALSE,Active +GARD:9182,Active,Orphanet,ORPHA:93293,Disorder,[Malformation syndrome],Okihiro syndrome,[Duane-radial ray syndrome],"A rare multiple congenital anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly (congenital limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure), renal abnormalities, sensorineural and/or conductive hearing loss, and, less frequently, imperforate anus and scoliosis.",[607323],,,,,Duane-radial ray syndrome,TRUE,FALSE,Active +GARD:9184,Active,Orphanet,ORPHA:1159,Disorder,[Disease],Progressive pseudorheumatoid arthropathy of childhood,[Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome],Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.,[208230],,,,,Progressive pseudorheumatoid dysplasia,TRUE,FALSE,Active +GARD:9185,Active,Orphanet,ORPHA:99898,Disorder,[Disease],Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,"[MSMD due to complete IFNgammaR1 deficiency, MSMD due to complete interferon gamma receptor 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency]","Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).",[209950],,,,,"Atypical mycobacteriosis, familial",TRUE,FALSE,Active +GARD:9188,Legacy,GARD,,,,,,,,,,,,HAIR-AN syndrome,FALSE,FALSE,Active +GARD:9189,Active,Orphanet,ORPHA:101084,Disorder,[Disease],Charcot-Marie-Tooth disease type 1D,[CMT1D],"Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.",[607678],,,,,Charcot-Marie-Tooth disease type 1D,TRUE,FALSE,Active +GARD:9190,Active,Orphanet,ORPHA:90658,Disorder,[Disease],Charcot-Marie-Tooth disease type 1E,"[CMT1E, Charcot-Marie-Tooth disease-deafness syndrome, Charcot-Marie-Tooth disease-hearing loss syndrome]","A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.",[118300],,,,,Charcot-Marie-Tooth disease type 1E,TRUE,FALSE,Active +GARD:9191,Active,Orphanet,ORPHA:101085,Disorder,[Disease],Charcot-Marie-Tooth disease type 1F,[CMT1F],"Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).",[607734],,,,,Charcot-Marie-Tooth disease type 1F,TRUE,FALSE,Active +GARD:9192,Active,Orphanet,ORPHA:99936,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2B,[CMT2B],"A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.",[600882],,,,,Charcot-Marie-Tooth disease type 2B,TRUE,FALSE,Active +GARD:9193,Active,Orphanet,ORPHA:99939,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2E,[CMT2E],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.",[607684],,,,,Charcot-Marie-Tooth disease type 2E,TRUE,FALSE,Active +GARD:9194,Active,Orphanet,ORPHA:99940,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2F,[CMT2F],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.",[606595],,,,,Charcot-Marie-Tooth disease type 2F,TRUE,FALSE,Active +GARD:9195,Active,Orphanet,ORPHA:99941,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2G,[CMT2G],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course.",,,,,,Charcot-Marie-Tooth disease type 2G,TRUE,FALSE,Active +GARD:9196,Active,Orphanet,ORPHA:101102,Disorder,[Disease],Charcot-Marie-Tooth disease type 2H,"[AR-CMT2C, Autosomal recessive axonal CMT4C2, Axonal Charcot-Marie-Tooth disease with pyramidal involvement, CMT2H]","Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.",[607731],,,,,Charcot-Marie-Tooth disease type 2H,TRUE,FALSE,Active +GARD:9197,Active,Orphanet,ORPHA:99942,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2I,[CMT2I],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.",[607677],,,,,Charcot-Marie-Tooth disease type 2I,TRUE,FALSE,Active +GARD:9198,Active,Orphanet,ORPHA:99943,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2J,[CMT2J],"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.",[607736],,,,,Charcot-Marie-Tooth disease type 2J,TRUE,FALSE,Active +GARD:9199,Active,Orphanet,ORPHA:99944,Disorder,[Disease],Autosomal dominant Charcot-Marie-Tooth disease type 2K,[CMT2K],An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy.,[607831],,,,,Charcot-Marie-Tooth disease type 2K,TRUE,FALSE,Active +GARD:92,Active,Orphanet,ORPHA:87503,Disorder,[Disease],Mal de Meleda,"[Keratosis palmoplantaris transgrediens of Siemens, Meleda disease, Transgrediens palmoplantar keratoderma of Siemens]","Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.",[248300],,,,,Meleda disease,TRUE,FALSE,Active +GARD:920,Legacy,GARD,,,,,,,,,,,,Bone dysplasia Azouz type,TRUE,FALSE,Active +GARD:9200,Active,Orphanet,ORPHA:99956,Disorder,[Disease],Charcot-Marie-Tooth disease type 4B2,[CMT4B2],"Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.",[604563],,,,,Charcot-Marie-Tooth disease type 4B2,TRUE,FALSE,Active +GARD:9201,Active,Orphanet,ORPHA:99949,Disorder,[Disease],Charcot-Marie-Tooth disease type 4C,[CMT4C],"Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.",[601596],,,,,Charcot-Marie-Tooth disease type 4C,TRUE,FALSE,Active +GARD:9203,Active,Orphanet,ORPHA:99951,Disorder,[Disease],Charcot-Marie-Tooth disease type 4E,"[Autosomal recessive congenital hypomyelinating neuropathy, CMT4E]","Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.",[605253],,,,,Charcot-Marie-Tooth disease type 4E,TRUE,FALSE,Active +GARD:9204,Active,Orphanet,ORPHA:64748,Disorder,[Disease],Dejerine-Sottas syndrome,"[Charcot-Marie-Tooth disease type 3, HMSN 3, HMSN III, Hereditary motor and sensory neuropathy type 3, Hereditary motor and sensory neuropathy type III]","A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) and PRX (19q13.2) have been implicated.","[618184, 145900]",,,,,Hypertrophic neuropathy of Dejerine-Sottas,TRUE,FALSE,Active +GARD:9205,Legacy,GARD,,,,,,,,,,,,Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma,TRUE,FALSE,Retired +GARD:9206,Active,Orphanet,ORPHA:352670,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,[CMTDIF],"A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.",[615185],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,TRUE,FALSE,Active +GARD:9207,Active,Orphanet,ORPHA:100046,Disorder,[Disease],Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,[CMTDID],"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.",[607791],,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,TRUE,FALSE,Active +GARD:9208,Active,Orphanet,ORPHA:64751,Disorder,[Disease],Hereditary motor and sensory neuropathy type 5,"[Charcot-Marie-Tooth disease-pyramidal features syndrome, HMSN 5, HMSN V, Hereditary motor and sensory neuropathy type V]","Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.",[600361],,,,,Hereditary motor and sensory neuropathy type 5,TRUE,FALSE,Active +GARD:921,Legacy,GARD,,,,,,,,,,,,Bone dysplasia corpus callosum agenesis,TRUE,FALSE,Active +GARD:9210,Active,Orphanet,ORPHA:49827,Disorder,[Disease],Thiamine-responsive megaloblastic anemia syndrome,"[Rogers syndrome, TRMA, Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness, Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss]","Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.",[249270],,,,,Thiamine responsive megaloblastic anemia syndrome,TRUE,FALSE,Active +GARD:9211,Legacy,GARD,,,,,,,,,,,,Aglossia and Situs Inversus,TRUE,FALSE,Active +GARD:9212,Active,Orphanet,ORPHA:2879,Disorder,[Malformation syndrome],"Phocomelia, Schinzel type","[Al Awadi-Raas-Rothschild syndrome, Aplasia/hypoplasia of limbs and pelvis, Congenital absence of ulna and fibula, Severe limb deficit]","Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.",[276820],,,,,Schinzel type phocomelia,TRUE,FALSE,Active +GARD:9213,Legacy,GARD,,,,,,,,,,,,Alsing syndrome,TRUE,FALSE,Active +GARD:9216,Legacy,GARD,,,,,,,,,,,,Baetz-Greenwalt syndrome,TRUE,FALSE,Active +GARD:9217,Active,Orphanet,ORPHA:86914,Disorder,[Malformation syndrome],Lymphedema-cerebral arteriovenous anomaly syndrome,,"Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.",[152900],,,,,Lymphedema and cerebral arteriovenous anomaly,TRUE,FALSE,Active +GARD:9218,Legacy,GARD,,,,,,,,,,,,Auralcephalosyndactyly,TRUE,FALSE,Active +GARD:9219,Legacy,GARD,,,,,,,,,,,,Atlanto-Axial Fusion,TRUE,FALSE,Active +GARD:922,Active,Orphanet,ORPHA:1842,Disorder,[Malformation syndrome],"Bone dysplasia, lethal Holmgren type","[Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type]","A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988.",[211120],,,,,Bone dysplasia lethal Holmgren type,TRUE,FALSE,Active +GARD:9220,Legacy,GARD,,,,,,,,,,,,Astley-Kendall syndrome,TRUE,FALSE,Active +GARD:9221,Legacy,GARD,,,,,,,,,,,,Asternia,TRUE,FALSE,Active +GARD:9222,Legacy,GARD,,,,,,,,,,,,"Asternia with Cardiac, Diaphragmatic, and Abdominal defects",TRUE,FALSE,Retired +GARD:9223,Legacy,GARD,,,,,,,,,,,,Arena syndrome,TRUE,FALSE,Active +GARD:9225,Active,Orphanet,ORPHA:1412,Disorder,[Malformation syndrome],Tarsal-carpal coalition syndrome,,"Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.","[186570, 186400]",,,,,Tarsal carpal coalition syndrome,TRUE,FALSE,Active +GARD:9226,Legacy,GARD,,,,,,,,,,,,Abdominal obesity metabolic syndrome,TRUE,FALSE,Active +GARD:9227,Legacy,GARD,,,,,,,,,,,,"Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery",TRUE,FALSE,Active +GARD:9228,Active,Orphanet,ORPHA:411709,Disorder,[Morphological anomaly],Renal agenesis,,"A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).","[191830, 615721]",,,,,Renal agenesis,TRUE,FALSE,Active +GARD:9229,Legacy,GARD,,,,,,,,,,,,Bile duct cysts,TRUE,FALSE,Active +GARD:923,Legacy,GARD,,,,,,,,,,,,Bone dysplasia Moore type,TRUE,FALSE,Active +GARD:9230,Legacy,GARD,,,,,,,,,,,,Chiari malformation type 1,FALSE,FALSE,Active +GARD:9232,Active,Orphanet,ORPHA:1136,Disorder,[Morphological anomaly],Arnold-Chiari malformation type II,"[Arnold-Chiari malformation type 2, Chiari malformation type 2, Chiari malformation type II]","A rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.",[207950],,,,,Chiari malformation type 2,TRUE,FALSE,Active +GARD:9233,Active,Orphanet,ORPHA:268882,Disorder,[Morphological anomaly],Arnold-Chiari malformation type I,"[Arnold-Chiari malformation type 1, Chiari malformation type 1, Chiari malformation type I]","A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.",[118420],,,,,Chiari malformation type 3,TRUE,FALSE,Active +GARD:9234,Legacy,GARD,,,,,,,,,,,,Chiari malformation type 4,TRUE,FALSE,Active +GARD:9236,Legacy,GARD,,,,,,,,,,,,Disseminated infection with mycobacterium avium complex,TRUE,FALSE,Active +GARD:9237,Active,Orphanet,ORPHA:140896,Disorder,[Disease],Severe acute respiratory syndrome,"[SARS, SARS-1]","A rare pulmonary disease induced by SARS-CoV coronavirus infection, with a reported incubation period varying from 2 to 7 days. Patients present flu-like symptoms, including fever, malaise, myalgia, headache, diarrhoea, and rigors. Dry, nonproductive, cough and dyspnea are frequently reported. Severe cases evolve rapidly, progressing to respiratory distress and failure, requiring intensive care. Mortality rate is 10%. The disease appeared in 2002 in southern China, subsequently spreading in 2003 to 26 countries. Reported human-to-human transmission occurred in Toronto (Canada), Hong Kong Special Administrative Region of China, Chinese Taipei, Singapore, and Hanoi (Viet Nam).",,,,,,SARS,TRUE,FALSE,Active +GARD:9238,Legacy,GARD,,,,,,,,,,,,West Nile virus infection,TRUE,FALSE,Active +GARD:9239,Active,Orphanet,ORPHA:90020,Disorder,[Disease],Parkinson-dementia complex of Guam,"[G-PDC, Guam disease, Guam parkinsonism-dementia complex, Lytico-Bodig disease]","A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam.",[105500],,,,,Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1,TRUE,FALSE,Active +GARD:9240,Legacy,GARD,,,,,,,,,,,,Childhood acute lymphoblastic leukemia,TRUE,FALSE,Active +GARD:9242,Active,Orphanet,ORPHA:164736,Disorder,[Disease],Familial advanced sleep-phase syndrome,[FASPS],A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder.,"[615224, 616882, 604348]",,,,,"Advanced sleep phase syndrome, familial",TRUE,FALSE,Active +GARD:9243,Legacy,GARD,,,,,,,,,,,,Bilirubin induced brain injury in the newborn,TRUE,FALSE,Retired +GARD:9244,Legacy,GARD,,,,,,,,,,,,Cervical intraepithelial neoplasia,TRUE,FALSE,Active +GARD:9246,Legacy,GARD,,,,,,,,,,,,Collagenopathy type 2 alpha 1,TRUE,FALSE,Active +GARD:9247,Active,Orphanet,ORPHA:48686,Disorder,[Disease],Primary effusion lymphoma,"[Body cavity-based lymphoma, PEL]","Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).",,,,,,Primary effusion lymphoma,TRUE,FALSE,Active +GARD:9249,Legacy,GARD,,,,,,,,,,,,Sinonasal undifferentiated carcinoma,TRUE,FALSE,Active +GARD:9252,Active,Orphanet,ORPHA:91500,Disorder,[Disease],Tubulointerstitial nephritis and uveitis syndrome,"[Acute tubulointerstitial nephritis and uveitis syndrome, Dobrin syndrome, TINU syndrome]",A rare renal tubular disease characterized by early-onset tubulointerstitial nephritis associated with anterior uveitis.,[607665],,,,,Tubulointerstitial nephritis and uveitis,TRUE,FALSE,Active +GARD:9253,Legacy,GARD,,,,,,,,,,,,Absence of septum pellucidum,TRUE,FALSE,Active +GARD:9255,Active,Orphanet,ORPHA:1934,Disorder,[Clinical syndrome],Early infantile epileptic encephalopathy,"[EIEE, Early infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome]","A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.","[616341, 617350, 619340, 618548, 613721, 613402, 617389, 617599, 615473, 612164, 609304, 308350, 617391, 617493, 617276, 300672]",,,,,Early Infantile Epileptic Encephalopathy,TRUE,FALSE,Active +GARD:9256,Legacy,GARD,,,,,,,,,,,,Dyssynergia cerebellaris myoclonica,TRUE,FALSE,Active +GARD:9257,Active,Orphanet,ORPHA:57145,Disorder,[Disease],SUNCT syndrome,[Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing],A rare primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).,,,,,,SUNCT headache,TRUE,FALSE,Active +GARD:9258,Active,Orphanet,ORPHA:65250,Disorder,[Disease],Perineural cyst,[Tarlov cyst],"A disorder that is characterized by the presence of cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.",,,,,,Tarlov cysts,TRUE,FALSE,Active +GARD:9259,Legacy,GARD,,,,,,,,,,,,Familial erythema nodosum,TRUE,FALSE,Active +GARD:9260,Legacy,GARD,,,,,,,,,,,,"Erythema nodosum, idiopathic",TRUE,FALSE,Active +GARD:9261,Legacy,GARD,,,,,,,,,,,,Boerhaave syndrome,TRUE,FALSE,Active +GARD:9262,Legacy,GARD,,,,,,,,,,,,Paraquat lung,TRUE,FALSE,Active +GARD:9263,Legacy,GARD,,,,,,,,,,,,Wallenberg syndrome,TRUE,FALSE,Active +GARD:9264,Legacy,GARD,,,,,,,,,,,,Superior vena cava syndrome,TRUE,FALSE,Retired +GARD:9265,Active,Orphanet,ORPHA:71277,Disorder,[Disease],Classic glucose transporter type 1 deficiency syndrome,"[Classic GLUT1 deficiency syndrome, Classic GLUT1-DS, De Vivo disease, Encephalopathy due to GLUT1 deficiency]","Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.",[606777],,,,,Glucose transporter type 1 deficiency syndrome,TRUE,FALSE,Active +GARD:9266,Active,Orphanet,ORPHA:79140,Disorder,[Disease],Cutaneous neuroendocrine carcinoma,"[MCC, Merkel cell carcinoma]","Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).",,,,,,Merkel cell carcinoma,TRUE,FALSE,Active +GARD:9267,Legacy,GARD,,,,,,,,,,,,Herrmann syndrome,TRUE,FALSE,Active +GARD:9268,Active,Orphanet+OMIM,OMIM:137950,Subtype of disorder,[Disease subtype],Glomerulopathy with fibronectin deposits 1,,"Glomerulopathy with fibronectin deposits (GFND) is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (FN1; {135600}) ({3:Castelletti et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Glomerulopathy with Fibronectin Deposits\n\nThe GFND1 locus maps to chromosome 1q32. See also GFND2 ({601894}), which is caused by mutation in the FN1 gene ({135600}) on chromosome 2q35.",[137950],[84090],[Fibronectin glomerulopathy],[15019],,Glomerulopathy with fibronectin deposits 1,TRUE,FALSE,Active +GARD:9269,Legacy,GARD,,,,,,,,,,,,Androgenetic alopecia,FALSE,FALSE,Active +GARD:9270,Legacy,GARD,,,,,,,,,,,,Endolymphatic sac tumor,TRUE,FALSE,Active +GARD:9272,Legacy,GARD,,,,,,,,,,,,Cluttering,TRUE,FALSE,Active +GARD:9273,Legacy,GARD,,,,,,,,,,,,Hereditary cerebellar ataxia syndrome of early onset,TRUE,FALSE,Retired +GARD:9274,Legacy,GARD,,,,,,,,,,,,Auditory neuropathy spectrum disorder,TRUE,FALSE,Active +GARD:9275,Active,Orphanet,ORPHA:98960,Disorder,[Disease],Thiel-Behnke corneal dystrophy,"[Anterior limiting membrane dystrophy type 2, Anterior limiting membrane dystrophy type II, Corneal dystrophy of Bowman layer type 2, Corneal dystrophy of Bowman layer type II, Curly fiber corneal dystrophy, Honeycomb corneal dystrophy, TBCD, Waardenburg-Jonker corneal dystrophy]","Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.",[602082],,,,,Corneal dystrophy Thiel Behnke type,TRUE,FALSE,Active +GARD:9276,Active,Orphanet,ORPHA:98961,Disorder,[Disease],Reis-Bücklers corneal dystrophy,"[Anterior limiting membrane dystrophy type 1, Anterior limiting membrane dystrophy type I, Atypical granular corneal dystrophy, Corneal dystrophy of Bowman layer type 1, Corneal dystrophy of Bowman layer type I, Geographic corneal dystrophy, Granular corneal dystrophy type 3, Granular corneal dystrophy type III, RBCD, Superficial granular corneal dystrophy]","Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.",[608470],,,,,Corneal dystrophy of Bowman layer type 1,TRUE,FALSE,Active +GARD:9277,Active,Orphanet,ORPHA:98967,Disorder,[Disease],Schnyder corneal dystrophy,"[Crystalline stromal dystrophy, Hereditary crystalline stromal dystrophy of Schnyder, SCCD, SCD, Schnyder crystalline corneal dystrophy, Schnyder crystalline dystrophy sine crystals]","Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.",[121800],,,,,Corneal dystrophy crystalline of Schnyder,TRUE,FALSE,Active +GARD:9278,Active,Orphanet,ORPHA:98963,Disorder,[Disease],Granular corneal dystrophy type II,"[Avellino corneal dystrophy, GCD2, GCDII, Granular corneal dystrophy type 2, Granular-lattice corneal dystrophy]","Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.",[607541],,,,,Corneal dystrophy Avellino type,TRUE,FALSE,Active +GARD:9279,Active,Orphanet,ORPHA:51208,Disorder,[Disease],Formiminoglutamic aciduria,"[FTCD deficiency, Formiminotransferase cyclodeaminase deficiency, Glutamate formiminotransferase deficiency]","A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated.",[229100],,,,,Glutamate formiminotransferase deficiency,TRUE,FALSE,Active +GARD:9280,Active,Orphanet,ORPHA:1415,Disorder,[Malformation syndrome],Cholestasis-pigmentary retinopathy-cleft palate syndrome,[Hardikar syndrome],"A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.",,,,,,Hardikar syndrome,TRUE,FALSE,Active +GARD:9281,Active,Orphanet,ORPHA:404560,Disorder,[Disease],Familial atypical multiple mole melanoma syndrome,"[B-K mole syndrome, FAMM-PC syndrome, FAMMM syndrome, Familial atypical mole syndrome, Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome, Familial dysplastic nevus syndrome, Melanoma-pancreatic cancer syndrome]","Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies.","[155600, 606719]",,,,,Familial atypical multiple mole melanoma syndrome,FALSE,FALSE,Active +GARD:9282,Active,Orphanet,ORPHA:370131,Disorder,[Disease],White platelet syndrome,,"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.",,,,,,White platelet syndrome,TRUE,FALSE,Active +GARD:9283,Active,Orphanet,ORPHA:1168,Disorder,[Disease],Ataxia-oculomotor apraxia type 1,[AOA1],"A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.",[208920],,,,,Ataxia with oculomotor apraxia type 1,TRUE,FALSE,Active +GARD:9285,Active,Orphanet,ORPHA:67043,Disorder,[Disease],Amoebic keratitis,,"A rare corneal infection due to the protozoan Acanthamoeba that generally occurs in contact lens wearers and that is characterized by severe ocular pain, blepharospasm, photophobia, eye tearing, blurred vision and foreign body sensation. It can lead to impaired visual acuity if not treated promptly.",,,,,,Acanthamoeba keratitis,TRUE,FALSE,Active +GARD:9286,Legacy,GARD,,,,,,,,,,,,Gnathostoma Infection,TRUE,FALSE,Active +GARD:9287,Active,Orphanet,ORPHA:1190,Disorder,[Malformation syndrome],Atelosteogenesis type I,"[AO1, AOI, Atelosteogenesis type 1, Giant cell chondrodysplasia, Spondylo-humero-femoral dysplasia]","A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.",[108720],,,,,Atelosteogenesis type 1,TRUE,FALSE,Active +GARD:9288,Active,Orphanet,ORPHA:85285,Disorder,[Malformation syndrome],"X-linked intellectual disability, Schimke type",,"X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.",[312840],,,,,"X-linked intellectual disability, Schimke type",TRUE,FALSE,Active +GARD:9289,Legacy,GARD,,,,,,,,,,,,Baby rattle pelvic dysplasia,TRUE,FALSE,Active +GARD:9290,Legacy,GARD,,,,,,,,,,,,Schizotaxia,TRUE,FALSE,Retired +GARD:9292,Active,Orphanet,ORPHA:77299,Disorder,[Malformation syndrome],Microphthalmia-brain atrophy syndrome,"[MCOPS10, MOBA syndrome, Syndromic microphthalmia type 10]","A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.",[611222],,,,,Microphthalmia syndromic 10,TRUE,FALSE,Active +GARD:9294,Active,Orphanet,ORPHA:65283,Disorder,[Malformation syndrome],Timothy syndrome,"[LQT8, Long QT syndrome type 8, Long QT syndrome-syndactyly syndrome]","A rare, multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT.","[601005, 618447]",,,,,Timothy syndrome,TRUE,FALSE,Active +GARD:9295,Active,Orphanet,ORPHA:1860,Subtype of disorder,[Clinical subtype],Thanatophoric dysplasia type 1,"[TD1, Thanatophoric dwarfism type 1]","A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.",[187600],,,,,Thanatophoric dysplasia type 1,TRUE,FALSE,Active +GARD:9296,Active,Orphanet,ORPHA:101004,Disorder,[Disease],Autosomal recessive spastic paraplegia type 24,[SPG24],"A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.",[607584],,,,,Spastic paraplegia 24,TRUE,FALSE,Active +GARD:9297,Active,Orphanet,ORPHA:51636,Disorder,[Disease],WHIM syndrome,"[WILM, Warts-hypogammaglobulinemia-infections-myelokathexis syndrome, Warts-infections-leukopenia-myelokatexis syndrome]","WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).",[193670],,,,,WHIM syndrome,TRUE,FALSE,Active +GARD:9298,Active,Orphanet,ORPHA:3006,Disorder,[Disease],Pyridoxine-dependent epilepsy,"[Antiquitin deficiency, Vitamin B6-dependent seizures]","A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).","[266100, 617290]",,,,,Pyridoxine-dependent epilepsy,TRUE,FALSE,Active +GARD:9299,Active,Orphanet,ORPHA:73423,Disorder,[Disease],Acute ackee fruit intoxication,"[Acute intoxication by Blighia sapida, Jamaican vomiting sickness, Jamaican vomiting syndrome]","A rare disease caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.",,,,,,Acute ackee fruit intoxication,TRUE,FALSE,Active +GARD:93,Active,Orphanet,ORPHA:573,Disorder,[Disease],Monilethrix,[Moniliform hair syndrome],A rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.,[158000],,,,,Monilethrix,TRUE,FALSE,Active +GARD:9300,Legacy,GARD,,,,,,,,,,,,Anal cancer,TRUE,FALSE,Active +GARD:9301,Legacy,GARD,,,,,,,,,,,,"Cerebellar astrocytoma, childhood",TRUE,FALSE,Active +GARD:9302,Legacy,GARD,,,,,,,,,,,,"Cerebral astrocytoma, childhood",TRUE,FALSE,Active +GARD:9303,Legacy,GARD,,,,,,,,,,,,"Basal cell carcinoma, multiple",TRUE,FALSE,Active +GARD:9304,Active,Orphanet,ORPHA:70567,Disorder,[Disease],Cholangiocarcinoma,"[Bile duct cancer, CCA]","Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic.",[615619],,,,,Bile duct cancer,TRUE,FALSE,Active +GARD:9305,Legacy,GARD,,,,,,,,,,,,"Bladder cancer, childhood",TRUE,FALSE,Retired +GARD:9306,Legacy,GARD,,,,,,,,,,,,Childhood brain stem glioma,TRUE,FALSE,Active +GARD:9307,Legacy,GARD,,,,,,,,,,,,"Brain tumor, adult",TRUE,FALSE,Active +GARD:9308,Legacy,GARD,,,,,,,,,,,,"Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified",TRUE,FALSE,Active +GARD:9309,Legacy,GARD,,,,,,,,,,,,"Visual pathway and hypothalamic glioma, childhood",TRUE,FALSE,Active +GARD:9310,Legacy,GARD,,,,,,,,,,,,"Brain tumor, childhood",TRUE,FALSE,Active +GARD:9311,Legacy,GARD,,,,,,,,,,,,"Breast cancer, childhood",TRUE,FALSE,Retired +GARD:9312,Legacy,GARD,,,,,,,,,,,,"Breast cancer, male",TRUE,FALSE,Active +GARD:9313,Legacy,GARD,,,,,,,,,,,,Bronchial adenomas/carcinoids childhood,TRUE,FALSE,Active +GARD:9315,Legacy,GARD,,,,,,,,,,,,Carcinoid tumor childhood,TRUE,FALSE,Active +GARD:9316,Active,Orphanet,ORPHA:877,Group of disorders,[Category],Neuroendocrine neoplasm,,"A group of rare tumors characterized by predominantly neuroendocrine differentiation, potentially arising in most organs of the body, including the central nervous system, respiratory tract, larynx, gastrointestinal tract, thyroid, skin, breast, and urogenital system. The gastrointestinal tract and lungs are the most common primary tumor sites. Based on clinical behavior, histology, and proliferation rate, the tumors may be categorized as well differentiated (low grade to intermediate grade) neuroendocrine tumors and poorly differentiated (high grade) neuroendocrine carcinomas. They may or may not be associated with clinical hormone hypersecretion syndromes.",,,,,,Carcinoid tumor,TRUE,FALSE,Active +GARD:9318,Active,Orphanet,ORPHA:46135,Disorder,[Disease],Primary central nervous system lymphoma,"[PCNSL, Primary CNS lymphoma, Primary brain lymphoma]","Primary central nervous system lymphoma (PCNSL) is a rare nervous system tumor, predominantly due to diffuse large B-cell lymphoma, that involves brain, leptomeninges, eyes, or rarely spinal cord, in the absence of systemic diffusion at the time of diagnosis. It is characterized by a solitary tumor that, depending on its location, can lead to a variety of symptoms such as headache, nausea, vomiting (and other signs of raised intracranial pressure), focal neurologic deficits, neuropsychiatric and ocular symptoms, seizures and personality changes.",,,,,,Primary central nervous system lymphoma,TRUE,FALSE,Active +GARD:9319,Active,Orphanet,ORPHA:98274,Group of disorders,[Clinical group],Myeloproliferative neoplasm,"[MPD, MPN, Myeloproliferative disorder]",,,,,,,Chronic myeloproliferative disorders,TRUE,FALSE,Active +GARD:932,Active,Orphanet,ORPHA:1262,Disorder,[Malformation syndrome],Böök syndrome,,"A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.",[112300],,,,,Book syndrome,TRUE,FALSE,Active +GARD:9320,Legacy,GARD,,,,,,,,,,,,"Colorectal cancer, childhood",TRUE,FALSE,Retired +GARD:9321,Legacy,GARD,,,,,,,,,,,,"Esophageal cancer, childhood",TRUE,FALSE,Retired +GARD:9323,Legacy,GARD,,,,,,,,,,,,Ewing's family of tumors,TRUE,FALSE,Retired +GARD:9324,Legacy,GARD,,,,,,,,,,,,"Extracranial germ cell tumor, childhood",TRUE,FALSE,Retired +GARD:9325,Active,Orphanet,ORPHA:363579,Group of disorders,[Category],Extragonadal germ cell tumor,,,,,,,,Extragonadal germ cell tumor,TRUE,FALSE,Active +GARD:9328,Legacy,GARD,,,,,,,,,,,,Gallbladder cancer,TRUE,FALSE,Active +GARD:9329,Legacy,GARD,,,,,,,,,,,,"Stomach cancer, childhood",TRUE,FALSE,Retired +GARD:933,Active,Orphanet,ORPHA:1263,Disorder,[Disease],Boomerang dysplasia,,"Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.",[112310],,,,,Boomerang dysplasia,TRUE,FALSE,Active +GARD:9330,Active,Orphanet,ORPHA:35807,Group of disorders,[Category],Malignant germ cell tumor of ovary,"[MOGCT, Malignant ovarian germ cell tumor, Ovarian germ cell cancer]","Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.",[603737],,,,,Ovarian germ cell tumor,TRUE,FALSE,Active +GARD:9331,Active,Orphanet,ORPHA:33402,Disorder,[Disease],Pediatric hepatocellular carcinoma,"[Childhood-onset HCC, Childhood-onset hepatocellular carcinoma, Pediatric HCC]","A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases).",[114550],,,,,Childhood hepatocellular carcinoma,TRUE,FALSE,Active +GARD:9332,Legacy,GARD,,,,,,,,,,,,"Hodgkin lymphoma, childhood",TRUE,FALSE,Retired +GARD:9333,Legacy,GARD,,,,,,,,,,,,"Hodgkin lymphoma, during pregnancy",TRUE,FALSE,Retired +GARD:9334,Legacy,GARD,,,,,,,,,,,,Hypopharyngeal cancer,TRUE,FALSE,Active +GARD:9339,Legacy,GARD,,,,,,,,,,,,Kidney Neoplasm,FALSE,FALSE,Draft +GARD:9340,Legacy,GARD,,,,,,,,,,,,"Kidney cancer, childhood",TRUE,FALSE,Retired +GARD:9341,Legacy,GARD,,,,,,,,,,,,"Laryngeal cancer, childhood",TRUE,FALSE,Retired +GARD:9342,Legacy,GARD,,,,,,,,,,,,Lip and oral cavity cancer,TRUE,FALSE,Active +GARD:9343,Legacy,GARD,,,,,,,,,,,,"Non-small cell lung cancer, childhood",TRUE,FALSE,Retired +GARD:9344,Active,Orphanet,ORPHA:70573,Disorder,[Disease],Small cell lung cancer,[SCLC],"Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized by rapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.",[182280],,,,,Small cell lung cancer,TRUE,FALSE,Active +GARD:9345,Legacy,GARD,,,,,,,,,,,,Childhood Lung Small Cell Carcinoma,TRUE,FALSE,Retired +GARD:9346,Legacy,GARD,,,,,,,,,,,,Childhood Non-Hodgkin Lymphoma,TRUE,FALSE,Retired +GARD:9347,Legacy,GARD,,,,,,,,,,,,"Non-Hodgkin lymphoma, during pregnancy",TRUE,FALSE,Retired +GARD:9348,Active,Orphanet,ORPHA:180247,Disorder,[Disease],Vaginal carcinoma,[Vaginal malignant epithelial tumor],"A group of rare vaginal tumors comprising HPV-associated and HPV-independent squamous cell carcinoma, glandular tumors (including HPV-associated adenocarcinoma, endometrioid carcinoma, clear cell carcinoma, gastric type and intestinal type mucinous carcinoma, and mesonephric adenocarcinoma), adenocarcinoma of Skene gland origin, adenosquamous carcinoma, and adenoid basal carcinoma. Depending on the type of tumor and disease stage, patients may present with symptoms related to a vaginal mass, vaginal bleeding and/or discharge, postcoital bleeding, urinary symptoms, pelvic pain, and a foreign body sensation within the vagina.",,,,,,Vaginal cancer,TRUE,FALSE,Active +GARD:9349,Active,Orphanet,ORPHA:494418,Disorder,[Disease],Vulvar carcinoma,[Carcinoma of vulva],"A group of rare tumors of the vulva comprising HPV-associated and HPV-independent squamous cell carcinomas as the most frequent malignant vulvar tumors, basal cell carcinomas, adenocarcinomas, and Bartholin gland carcinomas. Depending on the type of tumor and disease stage, patients may present with a painless vulvar mass or ulcer, or with pruritus, a burning sensation, pain, or bleeding.",,,,,,Vulvar cancer,TRUE,FALSE,Active +GARD:9350,Legacy,GARD,,,,,,,,,,,,"Medulloblastoma, childhood",TRUE,FALSE,Active +GARD:9351,Active,Orphanet,ORPHA:98275,Group of disorders,[Clinical group],Myelodysplastic/myeloproliferative disease,,,,,,,,Myelodysplastic/myeloproliferative disease,TRUE,FALSE,Active +GARD:9353,Legacy,GARD,,,,,,,,,,,,"Nasal cavity cancer, childhood",TRUE,FALSE,Retired +GARD:9354,Legacy,GARD,,,,,,,,,,,,"Paranasal sinus cancer, adult",TRUE,FALSE,Active +GARD:9355,Legacy,GARD,,,,,,,,,,,,"Paranasal sinus cancer, childhood",TRUE,FALSE,Retired +GARD:9357,Legacy,GARD,,,,,,,,,,,,"Nasopharyngeal cancer, childhood",TRUE,FALSE,Retired +GARD:9358,Legacy,GARD,,,,,,,,,,,,"Oropharyngeal cancer, adult",TRUE,FALSE,Active +GARD:9359,Legacy,GARD,,,,,,,,,,,,"Oropharyngeal cancer, childhood",TRUE,FALSE,Retired +GARD:936,Active,Orphanet,ORPHA:127,Disorder,[Malformation syndrome],Borjeson-Forssman-Lehmann syndrome,"[BFLS, Intellectual disability-epilepsy-endocrine disorders syndrome]","Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.",[301900],,,,,Borjeson-Forssman-Lehmann syndrome,TRUE,FALSE,Active +GARD:9360,Legacy,GARD,,,,,,,,,,,,Oral cancer,TRUE,FALSE,Active +GARD:9361,Legacy,GARD,,,,,,,,,,,,Childhood ovarian cancer,TRUE,FALSE,Retired +GARD:9362,Active,Orphanet,ORPHA:398934,Group of disorders,[Category],Malignant epithelial tumor of ovary,"[Epithelial cancer of ovary, Ovarian epithelial cancer, Ovarian malignant epithelial tumor]",,,,,,,Ovarian epithelial cancer,TRUE,FALSE,Active +GARD:9363,Active,Orphanet,ORPHA:206473,Disorder,[Disease],Borderline epithelial tumor of ovary,"[Borderline ovarian epithelial tumor, Ovarian tumor of low malignant potential]","A rare epithelial ovarian neoplasm, distinguished from ovarian carcinomas by the absence of destructive stromal invasion, generally characterized by indolent behavior and excellent prognosis. Most patients are asymptomatic at the time of diagnosis, and the symptoms, if present, are often nonspecific and vague, such as pelvic pain, abdominal mass or, rarely, gastrointestinal problems including early satiety or bloating. Six histological subtypes are currently recognized, based on the epithelial cell type.",,,,,,Ovarian low malignant potential tumor,TRUE,FALSE,Active +GARD:9364,Active,Orphanet,ORPHA:180824,Group of disorders,[Category],Rare tumor of pancreas,[Rare pancreatic tumor],,,,,,,Pancreatic cancer,TRUE,FALSE,Active +GARD:9365,Legacy,GARD,,,,,,,,,,,,"Parathyroid cancer, childhood",TRUE,FALSE,Retired +GARD:9366,Active,Orphanet,ORPHA:398043,Group of disorders,[Category],Malignant tumor of penis,"[Cancer of penis, Malignant penile tumor, Penile cancer]",,,,,,,Penile cancer,TRUE,FALSE,Active +GARD:9367,Legacy,GARD,,,,,,,,,,,,"Penile cancer, childhood",TRUE,FALSE,Retired +GARD:9368,Legacy,GARD,,,,,,,,,,,,"Pheochromocytoma, childhood",TRUE,FALSE,Retired +GARD:9369,Active,Orphanet,ORPHA:251909,Disorder,[Disease],Pineoblastoma,,"Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.",,,,,,Pineoblastoma,TRUE,FALSE,Active +GARD:9370,Legacy,GARD,,,,,,,,,,,,"Pineoblastoma, childhood",TRUE,FALSE,Retired +GARD:9371,Active,Orphanet,ORPHA:300385,Disorder,[Disease],Pituitary carcinoma,,"A rare pituitary tumor characterized by the presence of a pituitary adenoma that has metastasized either within the central nervous system, or to distant sites. The vast majority of pituitary carcinomas are hormonally active, most frequently with ACTH or prolactin production. The most common clinical symptoms are diabetes insipidus, optic nerve dysfunction, anterior pituitary dysfunction, palsy of cranial nerves III, IV, or VI, and headaches, although patients may also be asymptomatic. The tumors behave aggressively, and prognosis is poor.",,,,,,Pituitary cancer,TRUE,FALSE,Active +GARD:9373,Active,Orphanet,ORPHA:454714,Disorder,[Disease],Plasma cell leukemia,[PCL],"A rare plasma cell neoplasm characterized by peripheral plasmacytosis, usually with extensive and diffuse infiltration of the bone marrow, and monoclonal paraproteinemia. Neoplastic plasma cells may also be found in extramedullary sites, such as the liver or spleen, among others. Most cases present as primary plasma cell leukemia without previous diagnosis of myeloma. The condition can also represent leukemic transformation of plasma cell myeloma (secondary plasma cell leukemia). Clinical manifestations include lymphadenopathy, organomegaly, renal failure, bone marrow failure, and peripheral neuropathies. High serum levels of lactate dehydrogenase and beta2-microglobulin, as well as hypercalcemia (potentially leading to hypercalcemic crisis) are typically observed.",,,,,,Plasma cell leukemia,TRUE,FALSE,Active +GARD:9375,Legacy,GARD,,,,,,,,,,,,"Rectal cancer, childhood",TRUE,FALSE,Retired +GARD:9376,Active,Orphanet,ORPHA:598216,Disorder,[Disease],Upper tract urothelial carcinoma,"[Transitional cell carcinoma of the pelvis and ureter, Transitional cell carcinoma of the upper urinary tract, UTUC]",,,,,,,Transitional cell cancer of the renal pelvis and ureter,TRUE,FALSE,Active +GARD:9377,Legacy,GARD,,,,,,,,,,,,"Salivary gland cancer, adult",TRUE,FALSE,Active +GARD:9378,Legacy,GARD,,,,,,,,,,,,"Salivary gland cancer, childhood",TRUE,FALSE,Retired +GARD:938,Active,Orphanet,ORPHA:1264,Disorder,[Malformation syndrome],Tricho-retino-dento-digital syndrome,"[Bork syndrome, Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome]","Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.",[191482],,,,,Bork Stender Schmidt syndrome,TRUE,FALSE,Active +GARD:9380,Legacy,GARD,,,,,,,,,,,,Soft tissue sarcoma childhood,TRUE,FALSE,Retired +GARD:9382,Legacy,GARD,,,,,,,,,,,,"Skin cancer, non melanoma, childhood",TRUE,FALSE,Retired +GARD:9383,Legacy,GARD,,,,,,,,,,,,Uterine sarcoma,TRUE,FALSE,Active +GARD:9384,Legacy,GARD,,,,,,,,,,,,Metastatic squamous neck cancer with occult primary,TRUE,FALSE,Active +GARD:9385,Legacy,GARD,,,,,,,,,,,,Small intestine cancer,TRUE,FALSE,Active +GARD:9386,Legacy,GARD,,,,,,,,,,,,"Small intestine cancer, childhood",TRUE,FALSE,Retired +GARD:9387,Legacy,GARD,,,,,,,,,,,,"Testicular cancer, childhood",TRUE,FALSE,Retired +GARD:9388,Legacy,GARD,,,,,,,,,,,,"Thyroid cancer, childhood",TRUE,FALSE,Retired +GARD:939,Legacy,GARD,,,,,,,,,,,,Borrone Di Rocco Crovato syndrome,TRUE,FALSE,Active +GARD:9390,Legacy,GARD,,,,,,,,,,,,Urethral cancer,TRUE,FALSE,Active +GARD:9392,Legacy,GARD,,,,,,,,,,,,"Carcinoma of unknown primary site, childhood",TRUE,FALSE,Retired +GARD:9394,Legacy,GARD,,,,,,,,,,,,Acute cholinergic dysautonomia,TRUE,FALSE,Active +GARD:9396,Legacy,GARD,,,,,,,,,,,,Fibrolamellar carcinoma,TRUE,FALSE,Active +GARD:9397,Legacy,GARD,,,,,,,,,,,,Brenner tumor of ovary,TRUE,FALSE,Active +GARD:9398,Legacy,GARD,,,,,,,,,,,,Sarcoma botryoides,TRUE,FALSE,Active +GARD:9399,Legacy,GARD,,,,,,,,,,,,Glucagonoma syndrome,TRUE,FALSE,Retired +GARD:94,Active,Orphanet,ORPHA:578,Disorder,[Disease],Mucolipidosis type IV,,"A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features.",[252650],,,,,Mucolipidosis type 4,TRUE,FALSE,Active +GARD:9400,Active,Orphanet,ORPHA:66529,Disorder,[Disease],Tako-Tsubo cardiomyopathy,"[Ampulla cardiomyopathy, Apical ballooning syndrome, Ballooning cardiomyopathy, Broken heart syndrome, Stress cardiomyopathy, Tako-Tsubo syndrome, Takotsubo cardiomyopathy, Takotsubo syndrome, Transient left ventricular apical ballooning syndrome]","A rare cardiac disease characterized by acute occurrence of heart failure after an emotional or physical trigger however, recovery of the wall motion abnormalities are observed within months. Symptoms are similar to acute coronary syndrome (ACS).",,,,,,Broken heart syndrome,TRUE,FALSE,Active +GARD:9401,Legacy,GARD,,,,,,,,,,,,Eagle syndrome,TRUE,FALSE,Active +GARD:9404,Active,Orphanet,ORPHA:498228,Disorder,[Disease],Phyllodes tumor of the prostate,"[Cystic epithelial-stromal tumors of the prostate, Cystosarcoma phyllodes of the prostate, Phyllodes type of atypical prostatic hyperplasia]","A rare urogenital tumor characterized by stromal and epithelial components forming cysts lined by hyperplastic epithelium in a cellular or sarcomatoid stroma. The tumors may be clinically benign or malignant and tend to recur after transurethral resection. Metastatic spread is to lungs, bone, and liver. Patients may present with obstructive voiding symptoms, dysuria, hematuria, urinary retention, or a palpable abdominal mass. The prostate is palpably enlarged but feels soft and spongy.",,,,,,Phyllodes tumor of the prostate,TRUE,FALSE,Active +GARD:9405,Legacy,GARD,,,,,,,,,,,,Prostatic stromal proliferation of uncertain malignant potential,TRUE,FALSE,Active +GARD:9408,Legacy,GARD,,,,,,,,,,,,Secretory breast carcinoma,TRUE,FALSE,Active +GARD:9410,Legacy,GARD,,,,,,,,,,,,Pseudoangiomatous stromal hyperplasia,FALSE,FALSE,Active +GARD:9411,Legacy,GARD,,,,,,,,,,,,Primary familial xanthomatosis with involvement and calcification of the adrenal galnds,TRUE,FALSE,Retired +GARD:9412,Active,Orphanet,ORPHA:139396,Subtype of disorder,[Clinical subtype],X-linked cerebral adrenoleukodystrophy,[X-CALD],"A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade.",[300100],,,,,X-linked cerebral adrenoleukodystrophy,TRUE,FALSE,Active +GARD:9413,Legacy,GARD,,,,,,,,,,,,De Quervain's disease,FALSE,FALSE,Active +GARD:9414,Legacy,GARD,,,,,,,,,,,,Neuromyelitis optica spectrum disorders,TRUE,FALSE,Retired +GARD:9415,Legacy,GARD,,,,,,,,,,,,Paraneoplastic Neurologic Disorders,TRUE,FALSE,Active +GARD:9416,Legacy,GARD,,,,,,,,,,,,Post-Streptococcal Neurologic Disorders,TRUE,FALSE,Retired +GARD:9417,Legacy,GARD,,,,,,,,,,,,Meralgia paresthetica,TRUE,FALSE,Active +GARD:9418,Active,Orphanet,ORPHA:3233,Disorder,[Malformation syndrome],Cochleosaccular degeneration-cataract syndrome,,"Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.",[120040],,,,,Cochleosaccular degeneration of the inner ear and progressive cataracts,TRUE,FALSE,Active +GARD:9419,Legacy,GARD,,,,,,,,,,,,Rokitansky-Aschoff sinuses of the gallbladder,TRUE,FALSE,Active +GARD:942,Active,Orphanet,ORPHA:128,Disorder,[Disease],Diphyllobothriasis,[Bothriocephalosis],"Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).",,,,,,Bothriocephalosis,TRUE,FALSE,Active +GARD:9420,Active,Orphanet,ORPHA:2670,Disorder,[Malformation syndrome],Pierson syndrome,[Microcoria-congenital nephrosis syndrome],"A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits.",[609049],,,,,Pierson syndrome,TRUE,FALSE,Active +GARD:9421,Legacy,GARD,,,,,,,,,,,,Halo nevus,TRUE,FALSE,Active +GARD:9422,Legacy,GARD,,,,,,,,,,,,Melanocytic lesions of CNS,TRUE,FALSE,Active +GARD:9423,Legacy,GARD,,,,,,,,,,,,Familial capillaro-venous leptomeningeal angiomatosis,TRUE,FALSE,Active +GARD:9428,Active,Orphanet+OMIM,OMIM:607464,Subtype of disorder,[Disease subtype],"Thyroid carcinoma, hurthle cell",[Hurthle cell thyroid neoplasia],"Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms ({4:Sanders and Silverman, 1998}).\n\nHurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm ({2:Maximo et al., 2005}).",[607464],[146],[Differentiated thyroid carcinoma],[12027],,Hurthle cell thyroid cancer,TRUE,FALSE,Active +GARD:9429,Active,Orphanet,ORPHA:309796,Subtype of disorder,[Etiological subtype],Rhizomelic chondrodysplasia punctata type 2,,,[222765],,,,,Rhizomelic chondrodysplasia punctata type 2,TRUE,FALSE,Active +GARD:943,Active,Orphanet,ORPHA:1267,Disorder,[Disease],Botulism,,"Botulism is a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), including four clinical forms with different modes of acquisition.",,,,,,Botulism,TRUE,FALSE,Active +GARD:9430,Active,Orphanet,ORPHA:93583,Subtype of disorder,[Clinical subtype],Congenital thrombotic thrombocytopenic purpura,"[Congenital ADAMTS-13 deficiency, Congenital TTP, Familial TTP, Upshaw-Schulman syndrome]","A hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.",[274150],,,,,Congenital thrombotic thrombocytopenic purpura,TRUE,FALSE,Active +GARD:9432,Legacy,GARD,,,,,,,,,,,,"Hemolytic uremic syndrome, atypical, childhood",TRUE,FALSE,Active +GARD:9433,Active,Orphanet,ORPHA:289899,Group of disorders,[Category],Organic aciduria,,,,,,,,Organic acidemias,TRUE,FALSE,Active +GARD:9434,Legacy,GARD,,,,,,,,,,,,Sudden Arrhythmia Death Syndrome,TRUE,FALSE,Active +GARD:9435,Active,Orphanet+OMIM,OMIM:608233,Subtype of disorder,[Clinical subtype],Hermansky-pudlak syndrome 2,,"Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by platelet defects and oculocutaneous albinism. HPS2 differs from the other forms of HPS in that it includes immunodeficiency, and patients with HPS2 have an increased susceptibility to infections due to congenital neutropenia ({6:Jung et al., 2006}).",[608233],[183678],[Hermansky-Pudlak syndrome due to AP-3 deficiency],[15026],,Hermansky Pudlak syndrome 2,TRUE,FALSE,Active +GARD:9437,Legacy,GARD,,,,,,,,,,,,Dysesthetic Vulvodynia,TRUE,FALSE,Retired +GARD:9439,Legacy,GARD,,,,,,,,,,,,Vulvar Vestibulitis Syndrome,TRUE,FALSE,Active +GARD:944,Active,Orphanet,ORPHA:1180,Disorder,[Disease],Ataxia-hypogonadism-choroidal dystrophy syndrome,[Boucher-Neuhäuser syndrome],"A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).",[215470],,,,,Ataxia - hypogonadism - choroidal dystrophy,TRUE,FALSE,Active +GARD:9440,Legacy,GARD,,,,,,,,,,,,Psychosocial short stature,TRUE,FALSE,Retired +GARD:9441,Active,Orphanet,ORPHA:420561,Disorder,[Disease],Temple-Baraitser syndrome,"[Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome, TMBTS]","A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism.",[611816],,,,,Temple-Baraitser syndrome,TRUE,FALSE,Active +GARD:9442,Active,Orphanet,ORPHA:366,Disorder,[Disease],Glycogen storage disease due to glycogen debranching enzyme deficiency,"[Amylo-1,6-glucosidase deficiency, Cori disease, Cori-Forbes disease, Forbes disease, GDE deficiency, GSD due to glycogen debranching enzyme deficiency, GSD type 3, GSDIII, Glycogen storage disease type 3, Glycogen storage disease type III, Glycogenosis due to glycogen debranching enzyme deficiency, Glycogenosis type 3, Glycogenosis type III, Limit dextrinosis]","Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.",[232400],,,,,Glycogen storage disease type 3,TRUE,FALSE,Active +GARD:9443,Active,Orphanet,ORPHA:85165,Disorder,[Disease],Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,[SADDAN],"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).",[616482],,,,,Severe achondroplasia with developmental delay and acanthosis nigricans,TRUE,FALSE,Active +GARD:9444,Active,Orphanet,ORPHA:99826,Disorder,[Disease],Marburg hemorrhagic fever,"[Green monkey disease, MHF, Marburg virus disease]","Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.",,,,,,Marburg hemorrhagic fever,TRUE,FALSE,Active +GARD:9445,Legacy,GARD,,,,,,,,,,,,Reactive angioendotheliomatosis,TRUE,FALSE,Active +GARD:9447,Active,Orphanet,ORPHA:79263,Disorder,[Disease],Infantile neuronal ceroid lipofuscinosis,"[Hagberg-Santavuori disease, INCL, Infantile NCL, Santavuori disease, Santavuori-Haltia disease]",Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.,[256730],,,,,Infantile neuronal ceroid lipofuscinosis,TRUE,FALSE,Active +GARD:9448,Active,Orphanet,ORPHA:295016,Disorder,[Morphological anomaly],Camptodactyly of fingers,,"Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.",[114200],,,,,Familial streblodactyly,TRUE,FALSE,Active +GARD:9449,Active,Orphanet,ORPHA:100067,Subtype of disorder,[Clinical subtype],Waterhouse-Friderichsen syndrome,,,,,,,,Waterhouse–Friderichsen syndrome,TRUE,FALSE,Active +GARD:945,Legacy,GARD,,,,,,,,,,,,Boudhina Yedes Khiari syndrome,TRUE,FALSE,Active +GARD:9450,Active,Orphanet,ORPHA:180176,Disorder,[Morphological anomaly],Familial juvenile hypertrophy of the breast,"[Familial juvenile gigantomastia, Virginal breast hypertrophy]","A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.",[113670],,,,,Gigantomastia,TRUE,FALSE,Active +GARD:9451,Legacy,GARD,,,,,,,,,,,,Xanthogranulomatous cholecystitis,TRUE,FALSE,Active +GARD:9452,Active,Orphanet,ORPHA:91414,Disorder,[Disease],Pilomatrixoma,"[Epithelioma calcificans of Malherbe, Pilomatricoma]","Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).",[132600],,,,,Pilomatrixoma,TRUE,FALSE,Active +GARD:9453,Active,Orphanet,ORPHA:37553,Disorder,[Disease],Andersen-Tawil syndrome,"[Andersen syndrome, LQT7, Long QT syndrome type 7]","A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.",[170390],,,,,Andersen-Tawil syndrome,TRUE,FALSE,Active +GARD:9455,Active,Orphanet,ORPHA:2318,Disorder,[Malformation syndrome],Joubert syndrome with oculorenal defect,"[Arima syndrome, CORS, Cerebellooculorenal syndrome, Dekaban-Arima syndrome, JS type B, JS-OR, Joubert syndrome with Senior-Loken syndrome]",A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.,"[614424, 608091, 243910, 614465, 614844, 610188, 612285]",,,,,Joubert syndrome with oculorenal anomalies,TRUE,FALSE,Active +GARD:9456,Active,Orphanet,ORPHA:75563,Disorder,[Disease],X-linked sideroblastic anemia,[XLSA],"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.",[300751],,,,,X-linked sideroblastic anemia,TRUE,FALSE,Active +GARD:9457,Active,Orphanet,ORPHA:2924,Disorder,[Malformation syndrome],Isolated polycystic liver disease,"[ADPCLD, Autosomal dominant polycystic liver disease, PCLD]",Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).,"[174050, 617004]",,,,,Polycystic liver disease,TRUE,FALSE,Active +GARD:9458,Active,Orphanet+OMIM,OMIM:609192,Subtype of disorder,[Malformation syndrome subtype],Loeys-dietz syndrome 1,"[Furlong syndrome, aortic aneurysm, familial thoracic 5, loeys-dietz aortic aneurysm syndrome]","The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by {9:Loeys et al. (2006)}, the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.\n\nLDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by {10:MacCarrick et al., 2014}).\n\n<Subhead> Nomenclature\n\nIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) ({10:MacCarrick et al., 2014}). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below).\n\n<Subhead> Genetic Heterogeneity of Loeys-Dietz Syndrome\n\nLDS1 is caused by mutation in the TGFBR1 gene. LDS2 ({610168}) is caused by mutation in the TGFBR2 gene ({190182}). LDS3 ({613795}), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene ({603109}). LDS4 ({614816}) is caused by mutation in the TGFB2 gene ({190220}). LDS5 ({615582}) is caused by mutation in the TGFB3 gene ({190230}). LDS6 ({619656}) is caused by mutation in the SMAD2 gene ({601366}).\n\n<Subhead> Reviews\n\n{10:MacCarrick et al. (2014)} provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.\n\n{15:Schepers et al. (2018)} reviewed the clinical manifestations of LDS associated with mutation in the TRFBR1/2, TGFB1/2, and SMAD2/3 genes, concluding that the LDS phenotype represents a broad spectrum that is emerging as more patients are reported. They suggested genetic testing of the LDS genes be performed in the following scenarios: patients with the typical clinical trial of hypertelorism, cleft palate/bifid uvula and arterial tortuosity/aneurysm; early-onset aortic aneurysm with variable combination of other features including arachnodactyly, camptodactyly, club feet, any type of craniosynostosis, blue sclerae, thin skin with atrophic scars, easy bruising, joint hypermobility, bicuspid aortic valve, patent ductus arteriosus, atrial and ventricular septal defects; sporadic young probands with aortic root dilatation/dissection; families with autosomal dominant thoracic aortic aneurysms, especially those families with early-onset aortic/arterial dissection or aortic disease beyond the aortic root, including cerebral arteries; patients with a Marfan syndrome (MFS; {154700})-like phenotype, especially those without ectopia lentis, but with aortic and skeletal features not fulfilling the MFS diagnostic criteria; and patients with clinical features reminiscent of vascular Ehlers-Danlos syndrome ({130050}), including thin skin with atrophic scars, easy bruising, and joint hypermobility, who have normal type III collagen biochemistry and/or normal COL3A1 ({120180}) genetic testing.\n\n<Subhead> Diagnosis\n\n{15:Schepers et al. (2018)} noted that no formal diagnostic criteria had been developed for LDS, but stated that the diagnosis is established in individuals with a heterozygous pathogenic variant in SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, or TGFBR2 who exhibit either aortic root enlargement (defined as an aortic root z-score greater than or equal to 2.0) or type A dissection, or compatible systemic features including characteristic craniofacial, skeletal, cutaneous, and/or vascular manifestations found in combination. Special emphasis should be given to arterial tortuosity, particularly of the head and neck vessels, and to aneurysms or dissections involving medium-to-large muscular arteries throughout the arterial tree.",[609192],[60030],[Loeys-Dietz syndrome],[10788],,Loeys-Dietz syndrome type 1,TRUE,FALSE,Active +GARD:9459,Legacy,GARD,,,,,,,,,,,,Tracheal agenesis without tracheoesophageal fistula,TRUE,FALSE,Retired +GARD:946,Legacy,GARD,,,,,,,,,,,,Bourneville syndrome,TRUE,FALSE,Retired +GARD:9460,Legacy,GARD,,,,,,,,,,,,"Ovarian insufficiency, familial",TRUE,FALSE,Active +GARD:9461,Legacy,GARD,,,,,,,,,,,,Autoimmune oophoritis,TRUE,FALSE,Active +GARD:9462,Legacy,GARD,,,,,,,,,,,,Microspherophakia with hernia,TRUE,FALSE,Active +GARD:9463,Active,Orphanet,ORPHA:85174,Disorder,[Malformation syndrome],Pseudodiastrophic dysplasia,,"Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.",[264180],,,,,Pseudodiastrophic dysplasia,TRUE,FALSE,Active +GARD:9465,Active,Orphanet+OMIM,OMIM:104300,Subtype of disorder,[Disease subtype],"Alzheimer disease, familial, 1",[Presenile and senile dementia],"Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions ({180:Sennvik et al., 2000}). {199:Terry and Davies (1980)} pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).\n\n{72:Haines (1991)} reviewed the genetics of AD. {179:Selkoe (1996)} reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. {202:Theuns and Van Broeckhoven (2000)} reviewed the transcriptional regulation of the genes involved in Alzheimer disease.\n\n<Subhead> Genetic Heterogeneity of Alzheimer Disease\n\nAlzheimer disease is a genetically heterogeneous disorder. See also AD2 ({104310}), associated with the APOE*4 allele ({107741}) on chromosome 19; AD3 ({607822}), caused by mutation in the presenilin-1 gene (PSEN1; {104311}) on 14q; and AD4 ({606889}), caused by mutation in the PSEN2 gene ({600759}) on 1q31.\n\nThere is evidence for additional AD loci on other chromosomes; see AD5 ({602096}) on 12p11; AD6 ({605526}) on 10q24; AD7 ({606187}) on 10p13; AD8 ({607116}) on 20p; AD9 ({608907}), associated with variation in the ABCA7 gene ({605414}) on 19p13; AD10 ({609636}) on 7q36; AD11 ({609790}) on 9q22; AD12 ({611073}) on 8p12-q22; AD13 ({611152}) on 1q21; AD14 ({611154}) on 1q25; AD15 ({604154}) on 3q22-q24; AD16 ({300756}) on Xq21.3; AD17 ({615080}) on 6p21.2; and AD18 ({615590}), associated with variation in the ADAM10 gene ({602192}) on 15q21.\n\nEvidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease ({502500}).\n\nFinally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; {103950.0005}), low density lipoprotein-related protein-1 (LRP1; {107770}), the transferrin gene (TF; {190000}), the hemochromatosis gene (HFE; {613609}), the NOS3 gene ({163729}), the vascular endothelial growth factor gene (VEGF; {192240}), the ABCA2 gene ({600047}), and the TNF gene ({191160}) (see MOLECULAR GENETICS).",[104300],[1020],[Early-onset autosomal dominant Alzheimer disease],[12798],,Alzheimer disease type 1,TRUE,FALSE,Active +GARD:9467,Legacy,GARD,,,,,,,,,,,,Alzheimer disease type 2,TRUE,FALSE,Active +GARD:9468,Legacy,GARD,,,,,,,,,,,,Alzheimer disease type 3,TRUE,FALSE,Active +GARD:9469,Legacy,GARD,,,,,,,,,,,,Alzheimer disease type 4,TRUE,FALSE,Active +GARD:9470,Legacy,GARD,,,,,,,,,,,,Amyotrophic lateral sclerosis type 2,TRUE,FALSE,Active +GARD:9472,Active,Orphanet,ORPHA:251630,Disorder,[Disease],Anaplastic oligodendroglioma,,"A rare glial tumor characterized by a grade III oligodendroglial tumour with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with pleomorphic and increased size nuclei, a vesicular chromatin pattern and prominent nucleoli. Most patients present with seizures.","[137800, 616568]",,,,,Anaplastic oligodendroglioma,TRUE,FALSE,Active +GARD:9473,Legacy,GARD,,,,,,,,,,,,Peroxisomal biogenesis disorders ,TRUE,FALSE,Active +GARD:9474,Active,Orphanet,ORPHA:2485,Disorder,[Malformation syndrome],Melorheostosis,,"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.",[155950],,,,,Melorheostosis,TRUE,FALSE,Active +GARD:9475,Legacy,GARD,,,,,,,,,,,,Dysautonomia like disorder,TRUE,FALSE,Active +GARD:9476,Legacy,GARD,,,,,,,,,,,,Impairment of oral perception,TRUE,FALSE,Active +GARD:9477,Legacy,GARD,,,,,,,,,,,,Anaplastic small cell lymphoma,TRUE,FALSE,Active +GARD:9478,Legacy,GARD,,,,,,,,,,,,Supraglottic laryngeal cancer,TRUE,FALSE,Active +GARD:9479,Active,Orphanet,ORPHA:79311,Subtype of disorder,[Clinical subtype],Vitamin B12-responsive methylmalonic acidemia type cblB,"[Vitamin B12-responsive methylmalonic aciduria, type cblB]",,[251110],,,,,"Methylmalonic aciduria, cblB type",TRUE,FALSE,Active +GARD:9480,Legacy,GARD,,,,,,,,,,,,Familial dermographism,TRUE,FALSE,Active +GARD:9481,Active,Orphanet,ORPHA:88924,Disorder,[Disease],Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,"[PKDTS, TSC2/PKD1 contiguous gene syndrome, Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome]","A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).",[600273],,,,,"Polycystic kidneys, severe infantile with tuberous sclerosis",TRUE,FALSE,Active +GARD:9482,Legacy,GARD,,,,,,,,,,,,Sixth nerve palsy,TRUE,FALSE,Active +GARD:9484,Active,Orphanet,ORPHA:247245,Disorder,[Disease],Superficial siderosis,"[Hemosiderosis of the central nervous system, Superficial hemosiderosis of the CNS, Superficial hemosiderosis of the central nervous system, Superficial siderosis of the CNS, Superficial siderosis of the central nervous system]","Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.",,,,,,Superficial siderosis of the central nervous system,TRUE,FALSE,Active +GARD:9485,Active,Orphanet+OMIM,OMIM:137750,Subtype of disorder,[Disease subtype],"Glaucoma 1, open angle, a","[Glaucoma, primary open angle, juvenile-onset, 1]",,[137750],[98977],[Juvenile glaucoma],[16883],,Primary open angle glaucoma juvenile onset 1,TRUE,FALSE,Active +GARD:9486,Active,Orphanet,ORPHA:88620,Disorder,[Disease],Isolated congenital anosmia,,"This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome (see this term).",[107200],,,,,Congenital anosmia,TRUE,FALSE,Active +GARD:9487,Active,Orphanet,ORPHA:2674,Disorder,[Malformation syndrome],Cyprus facial-neuromusculoskeletal syndrome,,"Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.",[123853],,,,,Cyprus facial neuromusculoskeletal syndrome,TRUE,FALSE,Active +GARD:9488,Legacy,GARD,,,,,,,,,,,,Van Buchem disease type 2,TRUE,FALSE,Active +GARD:9489,Active,Orphanet,ORPHA:180188,Disorder,[Morphological anomaly],Isolated congenital breast hypoplasia/aplasia,[Isolated congenital amastia],"A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies.","[113700, 616001]",,,,,Absent breasts and nipples,TRUE,FALSE,Active +GARD:9490,Legacy,GARD,,,,,,,,,,,,Flat umbilicus familial,TRUE,FALSE,Active +GARD:9491,Active,Orphanet+OMIM,OMIM:608553,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 9,,"Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by {7:Koenekoop et al., 2012}). NMNAT1 mutations have been observed to cause severe and rapidly progressive macular degeneration, leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve ({10:Perrault et al., 2012}). Some patients present with later onset and milder phenotype than typical LCA ({8:Kumaran et al., 2021}).\n\nFor a general discussion of the phenotypic and genetic heterogeneity in Leber congenital amaurosis, see LCA1 ({204000}).",[608553],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 9,TRUE,FALSE,Active +GARD:9492,Active,Orphanet+OMIM,OMIM:609376,Subtype of disorder,[Clinical subtype],Cataract 35,,,[609376],[98991],[Early-onset nuclear cataract],[16887],,Autosomal recessive nonsyndromic congenital nuclear cataract,TRUE,FALSE,Active +GARD:9493,Active,Orphanet,ORPHA:602,Disorder,[Disease],GNE myopathy,"[DMRV, Distal myopathy with rimmed vacuoles, Distal myopathy, Nonaka type, HIBM2, Hereditary inclusion body myopathy type 2, IBM2, Inclusion body myopathy type 2, Nonaka myopathy, Quadriceps-sparing myopathy]","GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.","[617158, 605820]",,,,,Inclusion body myopathy 2,TRUE,FALSE,Active +GARD:9494,Active,Orphanet,ORPHA:79091,Disorder,[Disease],Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,"[HIBM3, Hereditary inclusion body myopathy type 3, IBM3, Inclusion body myopathy type 3]","A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.",[605637],,,,,Inclusion body myopathy 3,TRUE,FALSE,Active +GARD:9495,Active,Orphanet+OMIM,OMIM:204700,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypomaturation type, iia1","[Amelogenesis imperfecta, pigmented hypomaturation type, 1]","Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({4:Witkop, 1989}).\n\n<Subhead> Genetic Heterogeneity of the Hypomaturation Type of Amelogenesis Imperfecta\n\nSee also AI2A2 ({612529}), caused by mutation in the MMP20 gene ({604629}); AI2A3 ({613211}), caused by mutation in the WDR72 gene ({613214}); and AI2A4 ({614832}), caused by mutation in the C4ORF26 gene ({614829}).",[204700],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,Amelogenesis imperfecta pigmented hypomaturation type,TRUE,FALSE,Active +GARD:9496,Active,Orphanet,ORPHA:94088,Disorder,[Malformation syndrome],Hereditary renal hypouricemia,,A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF).,"[612076, 307830, 242050, 220150]",,,,,Renal hypouricemia,TRUE,FALSE,Active +GARD:9497,Legacy,GARD,,,,,,,,,,,,Ichthyosis hystrix gravior,TRUE,FALSE,Retired +GARD:9498,Legacy,GARD,,,,,,,,,,,,"Escobar syndrome, type B",TRUE,FALSE,Retired +GARD:9499,Active,Orphanet,ORPHA:48818,Disorder,[Disease],Aceruloplasminemia,[Hereditary ceruloplasmin deficiency],"A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.",[604290],,,,,Aceruloplasminemia,TRUE,FALSE,Active +GARD:95,Active,Orphanet,ORPHA:2576,Disorder,[Malformation syndrome],Mulibrey nanism,"[MUL, Mulibrey growth disorder, Muscle-liver-brain-eye nanism]",A rare developmental defect during embryogenesis characterized by growth delay and multiorgan manifestations.,[253250],,,,,Mulibrey Nanism,TRUE,FALSE,Active +GARD:9500,Legacy,GARD,,,,,,,,,,,,"Tremor hereditary essential, 2",TRUE,FALSE,Active +GARD:9501,Active,Orphanet,ORPHA:53372,Disorder,[Disease],Hereditary geniospasm,"[Familial trembling of the chin, Hereditary chin myoclonus, Hereditary chin-trembling]",Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.,[190100],,,,,Hereditary geniospasm,TRUE,FALSE,Active +GARD:9502,Legacy,GARD,,,,,,,,,,,,Familial neurocardiogenic syncope,TRUE,FALSE,Active +GARD:9503,Legacy,GARD,,,,,,,,,,,,Anterior polar cataract 2,TRUE,FALSE,Retired +GARD:9504,Active,Orphanet+OMIM,OMIM:607728,Subtype of disorder,[Disease subtype],"Porokeratosis 4, disseminated superficial actinic type",,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({1:Schamroth et al., 1997}). However, as noted by {2:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members as well as individuals expressing more than one variant have been reported, suggesting that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {3:Wu et al., 2004} and {6:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[607728],[79152],[Disseminated superficial actinic porokeratosis],[10983],,"Porokeratosis, disseminated superficial actinic 2",TRUE,FALSE,Active +GARD:9505,Active,Orphanet+OMIM,OMIM:175900,Subtype of disorder,[Disease subtype],"Porokeratosis 3, multiple types","[Porokeratosis, disseminated superficial actinic, 1]","Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({12:Schamroth et al., 1997}). However, as noted by {13:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear porokeratosis.\n\nThe preferred title of this entry was formerly 'Porokeratosis 3, Disseminated Superficial Actinic Type; POROK3.'\n\nDisseminated superficial actinic porokeratosis is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {15:Wu et al., 2004} and {18:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.",[175900],"[735, 79152]","[Porokeratosis of Mibelli, Disseminated superficial actinic porokeratosis]","[4438, 10983]",,"Porokeratosis, disseminated superficial actinic 1",TRUE,FALSE,Active +GARD:9506,Active,Orphanet,ORPHA:85199,Disorder,[Malformation syndrome],Craniosynostosis-anal anomalies-porokeratosis syndrome,"[CAP syndrome, CDAGS syndrome]","Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).",[603116],,,,,"Craniosynostosis, anal anomalies, and porokeratosis",TRUE,FALSE,Active +GARD:9507,Legacy,GARD,,,,,,,,,,,,Cornea guttata with anterior polar cataract,TRUE,FALSE,Active +GARD:9508,Active,Orphanet,ORPHA:98989,Subtype of disorder,[Clinical subtype],Cerulean cataract,[Blue-dot cataract],"A type of hereditary congenital cataract, distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus, and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.","[115660, 614422]",,,,,Cerulean cataract,TRUE,FALSE,Active +GARD:9509,Active,Orphanet,ORPHA:3242,Disorder,[Malformation syndrome],Renpenning syndrome,"[X-linked intellectual disability due to PQBP1 mutations, X-linked intellectual disability, Renpenning type]","Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.",[309500],,,,,Renpenning syndrome,TRUE,FALSE,Active +GARD:951,Legacy,GARD,,,,,,,,,,,,Bowen syndrome,TRUE,FALSE,Retired +GARD:9511,Active,Orphanet,ORPHA:137675,Disorder,[Disease],Histiocytoid cardiomyopathy,"[Foamy myocardial transformation of infancy, Infantile cardiomyopathy with histiocytoid change, Infantile xanthomatous cardiomyopathy, Oncocytic cardiomyopathy]","A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.","[500000, 212080]",,,,,Infantile histiocytoid cardiomyopathy,TRUE,FALSE,Active +GARD:9512,Legacy,GARD,,,,,,,,,,,,Ainhum,TRUE,FALSE,Active +GARD:9513,Legacy,GARD,,,,,,,,,,,,Linear scleroderma,TRUE,FALSE,Active +GARD:9514,Active,Orphanet,ORPHA:180261,Disorder,[Disease],Phyllodes tumor of the breast,,"A rare fibroepithelial neoplasm usually presenting in adult females with a well circumscribed mobile masses that grow rapidly and sometimes with additional non-specific symptoms such as dilated skin veins, nipple retraction, skin ulcers, palpable axillary lymphadenopathy or blue discoloration of the skin. The neoplasm can be benign or malignant.",,,,,,Phyllodes tumor of the breast,TRUE,FALSE,Active +GARD:9515,Legacy,GARD,,,,,,,,,,,,Linear porokeratosis,TRUE,FALSE,Active +GARD:9516,Legacy,GARD,,,,,,,,,,,,Febrile Ulceronecrotic Mucha-Habermann disease,TRUE,FALSE,Active +GARD:9517,Active,Orphanet,ORPHA:97364,Subtype of disorder,[Clinical subtype],Bilateral multicystic dysplastic kidney,"[Bilateral MCDK, Bilateral multicystic renal dysplasia]","A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.",,,,,,"Multicystic renal dysplasia, bilateral",TRUE,FALSE,Active +GARD:9518,Legacy,GARD,,,,,,,,,,,,Ankylosing spondylitis,FALSE,FALSE,Active +GARD:9519,Legacy,GARD,,,,,,,,,,,,Autoimmune myocarditis,TRUE,FALSE,Active +GARD:9520,Legacy,GARD,,,,,,,,,,,,Buruli ulcer,TRUE,FALSE,Active +GARD:9521,Legacy,GARD,,,,,,,,,,,,CD3 deficiency,TRUE,FALSE,Active +GARD:9522,Legacy,GARD,,,,,,,,,,,,Chancroid,TRUE,FALSE,Active +GARD:9523,Legacy,GARD,,,,,,,,,,,,CD4 deficiency,TRUE,FALSE,Active +GARD:9525,Active,Orphanet,ORPHA:228123,Disorder,[Disease],Coccidioidomycosis,"[California disease, Coccidioides infection, Desert fever, Desert rheumatism, San Joaquin valley fever, Valley fever]","Coccidioidomycosis is a fungal infection caused by Coccidioides immitis and C. posadasii, which is endemic to the Southwestern United States, Central America, South America and Mexico, and is acquired by inhalation of the infective arthroconidia, often found in soil. In most cases it is a benign, self-limiting febrile illness, but in a minority of cases it can become a potentially lethal infection of the lungs and, extremely rarely, spread to other organs (through hematogenous dissemination) with manifestations including meningitis, osteomyelitis, and skin and soft-tissue involvement.",,,,,,Coccidioidomycosis,TRUE,FALSE,Active +GARD:9526,Legacy,GARD,,,,,,,,,,,,Complement component deficiency,TRUE,FALSE,Active +GARD:9527,Legacy,GARD,,,,,,,,,,,,Complement receptor deficiency,TRUE,FALSE,Active +GARD:9528,Active,Orphanet,ORPHA:210,Disorder,[Disease],Cyclosporosis,,"Cyclosporosis is a parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health.",,,,,,Cyclosporiasis,TRUE,FALSE,Active +GARD:9529,Legacy,GARD,,,,,,,,,,,,Cytokine deficiency,TRUE,FALSE,Active +GARD:953,Active,Orphanet,ORPHA:2292,Disorder,[Malformation syndrome],Congenital bowing of long bones,,"A rare primary bone dysplasia characterized by congenital symmetric or asymmetric shortness and bowing of long bones, resulting in shortness of limbs and limited extension at the knees and elbows. Additional reported features are ''beaten metal'' appearance of the skull, dolichomacrocephaly, ocular hypertelorism, and anterior beaking and bone-within-bone appearance of vertebrae. There have been no further descriptions in the literature since 1993.","[211355, 264050]",,,,,Bowing of long bones congenital,TRUE,FALSE,Active +GARD:9530,Legacy,GARD,,,,,,,,,,,,Cytokine receptor deficiency,TRUE,FALSE,Active +GARD:9531,Legacy,GARD,,,,,,,,,,,,Cytomegalovirus retinitis,TRUE,FALSE,Active +GARD:9532,Legacy,GARD,,,,,,,,,,,,Granuloma Inguinale,TRUE,FALSE,Active +GARD:9534,Active,Orphanet,ORPHA:2566,Disorder,[Disease],Chronic Epstein-Barr virus infection syndrome,"[CAEBV syndrome, Chronic EBV infection syndrome]","Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.",[226990],,,,,Chronic active Epstein-Barr virus infection,TRUE,FALSE,Active +GARD:9535,Active,Orphanet,ORPHA:47045,Disorder,[Disease],Familial cold urticaria,"[FCAS, FCU, Familial cold autoinflammatory syndrome]","Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.","[120100, 616115]",,,,,Familial cold autoinflammatory syndrome,TRUE,FALSE,Active +GARD:9536,Legacy,GARD,,,,,,,,,,,,Glanders,TRUE,FALSE,Active +GARD:9537,Legacy,GARD,,,,,,,,,,,,Haemophilus influenzae,TRUE,FALSE,Active +GARD:954,Legacy,GARD,,,,,,,,,,,,Boylan Dew Greco syndrome,TRUE,FALSE,Active +GARD:9541,Legacy,GARD,,,,,,,,,,,,Hepatitis E,TRUE,FALSE,Active +GARD:9542,Legacy,GARD,,,,,,,,,,,,Herpes simiae (B virus),TRUE,FALSE,Active +GARD:9544,Legacy,GARD,,,,,,,,,,,,Leucocyte adhesion defect,TRUE,FALSE,Retired +GARD:9545,Legacy,GARD,,,,,,,,,,,,Lymphogranuloma venereum,TRUE,FALSE,Active +GARD:9546,Active,Orphanet,ORPHA:31202,Disorder,[Disease],Melioidosis,,"A rare infectious disease caused by the Gram-negative bacillus Burkholderia (pseudomonas) pseudomallei, also called Whitmore bacillus. The infection can be acute, subacute, or chronic and affects the skin, the lungs, or the whole body.",[615557],,,,,Melioidosis,TRUE,FALSE,Active +GARD:9547,Legacy,GARD,,,,,,,,,,,,Meningococcal infection,TRUE,FALSE,Active +GARD:9548,Legacy,GARD,,,,,,,,,,,,MHC class 1 deficiency,TRUE,FALSE,Active +GARD:9549,Legacy,GARD,,,,,,,,,,,,"Nasal polyposis, familial",TRUE,FALSE,Retired +GARD:955,Active,Orphanet,ORPHA:1299,Disorder,[Malformation syndrome],Branchioskeletogenital syndrome,"[BSG syndrome, Elsahy-Waters syndrome]","Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.",[211380],,,,,Brachioskeletogenital syndrome,TRUE,FALSE,Active +GARD:9550,Active,Orphanet,ORPHA:576370,Disorder,[Disease],Variant Creutzfeldt-Jakob disease,"[Variant MCJ, vCJD]","A rare acquired human prion disease characterized by a progressive, invariably fatal neuropsychiatric disorder resulting from transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual. Patients typically present early psychiatric symptoms (such as depression, anxiety, apathy, withdrawal, and delusions), as well as persistent painful sensory symptoms, ataxia, myoclonus, chorea, or dystonia, and dementia. Brain MRI often shows bilateral FLAIR hyperintensities involving the pulvinar thalamic nuclei. Neuropathological examination reveals spongiform change and extensive deposition of abnormal prion protein with florid plaques throughout the cerebrum and cerebellum.",,,,,,Variant Creutzfeldt-Jakob disease,TRUE,FALSE,Active +GARD:9551,Legacy,GARD,,,,,,,,,,,,Bronchiolitis obliterans,TRUE,FALSE,Active +GARD:9552,Legacy,GARD,,,,,,,,,,,,Polyomavirus allograft nephropathy,TRUE,FALSE,Active +GARD:9553,Active,Orphanet,ORPHA:70568,Disorder,[Disease],Post-transplant lymphoproliferative disease,[PTLD],"A group of rare immunodeficiency-associated lymphoproliferative disorders characterized by lymphoid or plasmacytic proliferations developing in the context of immunosuppression in a recipient of a solid organ or stem cell allograft. The group includes non-destructive post-transplant lymphoproliferative disorders (PTLDs), polymorphic PTLD, monomorphic PTLDs, and classic Hodgkin lymphoma PTLD. Patients may have more than one type of PTLD in a single or in different locations. The most commonly involved sites are lymph nodes, gastrointestinal tract, lungs, and liver, although the disease may occur almost anywhere in the body. In solid organ transplant recipients, PTLD may also involve the allograft.",,,,,,Post-transplant lymphoproliferative disease,TRUE,FALSE,Active +GARD:9554,Legacy,GARD,,,,,,,,,,,,Primary amebic meningoencephalitis,TRUE,FALSE,Active +GARD:9557,Active,Orphanet,ORPHA:31205,Disorder,[Disease],Rat-bite fever,,"Rat-bite fever (RBF) is a systemic bacterial zoonosis occurring in individuals that have been bitten or scratched by Streptobacillus moniliformis or Spirillum minus-infected rats and characterized by high fever, a rash on the extremities, and arthralgia.",,,,,,Rat bite fever,TRUE,FALSE,Active +GARD:9558,Active,Orphanet,ORPHA:486,Disorder,[Disease],Autosomal dominant severe congenital neutropenia,,"A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.","[613107, 257100, 618752, 202700]",,,,,Severe congenital neutropenia autosomal dominant,TRUE,FALSE,Active +GARD:9559,Legacy,GARD,,,,,,,,,,,,Staphylococcal food poisoning,TRUE,FALSE,Active +GARD:9560,Active,Orphanet,ORPHA:36234,Disorder,[Disease],Bacterial toxic-shock syndrome,[Bacterial TSS],"Bacterial toxic shock syndrome (TSS) is a potentially fatal, acute disease characterized by a sudden onset of high fever along with nausea, myalgia, vomiting and multisystem organ involvement, potentially leading to shock and death. TSS is mediated by superantigenic toxins, usually caused by an infection with Staphylococcus aureus in staphylococcal TSS (see this term) or Streptococcus pyogenes in streptococcal TSS (see this term).",,,,,,Staphylococcal toxic shock syndrome,TRUE,FALSE,Active +GARD:9561,Legacy,GARD,,,,,,,,,,,,Streptococcal Group A invasive disease,TRUE,FALSE,Active +GARD:9563,Legacy,GARD,,,,,,,,,,,,Neonatal systemic lupus erythematosus,TRUE,FALSE,Active +GARD:9564,Active,Orphanet,ORPHA:99745,Disorder,[Disease],Typhoid,"[Typhoid fever, Typhoidal salmonellosis]","Typhoid or typhoid fever is a reportable, fecal-oral, potentially fatal infectious disease, caused by the bacteria Salmonella typhi and characterized by a non-focal fever.",,,,,,Typhoid fever,TRUE,FALSE,Active +GARD:9565,Legacy,GARD,,,,,,,,,,,,Vasculitis,FALSE,FALSE,Active +GARD:9568,Active,Orphanet,ORPHA:49041,Subtype of disorder,[Clinical subtype],IgG4-related retroperitoneal fibrosis,"[Idiopathic retroperitoneal fibrosis, Ormond disease]","A rare systemic autoimmune disease characterized by mass-forming, potentially destructive inflammation and fibrosis in the soft tissues of the retroperitoneum, associated with elevation of serum IgG4 levels and infiltration of IgG4-positive plasma cells in at least one organ or site. Most frequent locations are peripheral to the abdominal aorta, as well as the iliac and renal arteries. Clinical symptoms are unspecific and include abdominal pain, back pain, and edema of the lower extremities. The condition may occur together with IgG4-related disease in other parts of the body.",[228800],,,,,Retroperitoneal fibrosis,TRUE,FALSE,Active +GARD:9569,Active,Orphanet,ORPHA:31112,Disorder,[Disease],Dermatofibrosarcoma protuberans,[DFSP],"Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).",[607907],,,,,Dermatofibrosarcoma protuberans,TRUE,FALSE,Active +GARD:957,Active,Orphanet,ORPHA:1519,Disorder,[Malformation syndrome],SPECC1L-related hypertelorism syndrome,"[Brachycephalofrontonasal dysplasia, Teebi hypertelorism syndrome]","A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects.",[145420],,,,,Brachycephalofrontonasal dysplasia,TRUE,FALSE,Active +GARD:9570,Legacy,GARD,,,,,,,,,,,,Acral lentiginous melanoma,TRUE,FALSE,Active +GARD:9571,Active,Orphanet,ORPHA:422526,Disorder,[Disease],Hereditary clear cell renal cell carcinoma,[Hereditary clear cell renal cell adenocarcinoma],"Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome.",[144700],,,,,Hereditary renal cell carcinoma,TRUE,FALSE,Active +GARD:9572,Active,Orphanet,ORPHA:319298,Disorder,[Disease],Papillary renal cell carcinoma,[Papillary renal cell adenocarcinoma],"Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.",,,,,,Papillary renal cell carcinoma,TRUE,FALSE,Active +GARD:9573,Active,Orphanet,ORPHA:247203,Disorder,[Disease],Collecting duct carcinoma,"[BDC, Bellini carcinoma, Bellini duct carcinoma, CDC]","Collecting duct carcinoma is a rare, aggressive subtype of renal cell carcinoma, which originates from the epithelium of the distal collecting ducts, and usually manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Patients are often asymptomatic for long periods of time and therefore, disease is often locally advanced or metastatic at the time of diagnosis. In cases with metastatic spread, bone pain, cough, dyspnea, pneumonia or neurological compromise may be associated.",,,,,,Collecting duct carcinoma,TRUE,FALSE,Active +GARD:9574,Active,Orphanet,ORPHA:319276,Disorder,[Disease],Clear cell renal carcinoma,"[CCRCC, Clear cell renal cell adenocarcinoma, Clear cell renal cell carcinoma]","A rare renal tumor arising from proximal tubular epithelial cells of the renal cortex, characterized histologically by malignant epithelial cells with typical clear cytoplasm in conventional staining methods due to a high glycogen and lipid content, featuring a nested growth pattern. Clinically it may present with hematuria, flank pain, anemia or, less commonly, a palpable abdominal mass.",,,,,,Clear cell renal cell carcinoma,TRUE,FALSE,Active +GARD:9575,Legacy,GARD,,,,,,,,,,,,Chromophil renal cell carcinoma,TRUE,FALSE,Active +GARD:9576,Legacy,GARD,,,,,,,,,,,,Wittwer Syndrome,TRUE,FALSE,Retired +GARD:9578,Active,Orphanet,ORPHA:243367,Disorder,[Disease],Acute fatty liver of pregnancy,[AFLP],"A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.",,,,,,Acute fatty liver of pregnancy,TRUE,FALSE,Active +GARD:9579,Legacy,GARD,,,,,,,,,,,,Human spumaretrovirus infection,TRUE,FALSE,Active +GARD:958,Active,Orphanet,ORPHA:1272,Disorder,[Malformation syndrome],Aymé-Gripp syndrome,"[Brachycephaly-deafness-cataract-intellectual disability syndrome, Brachycephaly-hearing loss-cataract-intellectual disability syndrome, Fine-Lubinsky syndrome]","A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder.","[601353, 601088]",,,,,Fine-Lubinsky syndrome,TRUE,FALSE,Active +GARD:9580,Legacy,GARD,,,,,,,,,,,,Mesangial proliferative glomerulonephritis,TRUE,FALSE,Active +GARD:9581,Active,Orphanet,ORPHA:100996,Disorder,[Disease],Autosomal recessive spastic paraplegia type 15,"[Hereditary spastic paraparesis type 15, Kjellin syndrome, SPG15, Spastic paraplegia-retinal degeneration syndrome]","Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.",[270700],,,,,Spastic paraplegia 15,TRUE,FALSE,Active +GARD:9582,Active,Orphanet,ORPHA:101005,Disorder,[Disease],Autosomal recessive spastic paraplegia type 25,"[Autosomal recessive spastic paraplegia-disc herniation syndrome, SPG25]","Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.",[608220],,,,,Spastic paraplegia 25,TRUE,FALSE,Active +GARD:9583,Active,Orphanet,ORPHA:447753,Disorder,[Disease],Autosomal dominant spastic paraplegia type 9A,"[AD-SPG9A, Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome, Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome]","A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others.",[601162],,,,,Spastic paraplegia 9,TRUE,FALSE,Active +GARD:9584,Legacy,GARD,,,,,,,,,,,,Vibrio vulnificus infection,TRUE,FALSE,Active +GARD:9585,Active,Orphanet,ORPHA:100997,Disorder,[Disease],X-linked spastic paraplegia type 16,[SPG16],"A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.",[300266],,,,,Spastic paraplegia 16,TRUE,FALSE,Active +GARD:9586,Active,Orphanet,ORPHA:100993,Disorder,[Disease],Autosomal dominant spastic paraplegia type 12,[SPG12],"A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.",[604805],,,,,Spastic paraplegia 12,TRUE,FALSE,Active +GARD:9587,Active,Orphanet,ORPHA:101006,Disorder,[Disease],Autosomal recessive spastic paraplegia type 26,"[GM2 synthase deficiency, SPG26]","Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.",[609195],,,,,Spastic paraplegia 26,TRUE,FALSE,Active +GARD:9588,Active,Orphanet,ORPHA:100999,Disorder,[Disease],Autosomal dominant spastic paraplegia type 19,[SPG19],"A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.",[607152],,,,,Spastic paraplegia 19,TRUE,FALSE,Active +GARD:9589,Active,Orphanet,ORPHA:100995,Disorder,[Disease],Autosomal recessive spastic paraplegia type 14,[SPG14],"Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.",[605229],,,,,Spastic paraplegia 14,TRUE,FALSE,Active +GARD:959,Legacy,GARD,,,,,,,,,,,,Brachydactyly types B and E combined,TRUE,FALSE,Active +GARD:9590,Active,Orphanet,ORPHA:100991,Disorder,[Disease],Autosomal dominant spastic paraplegia type 10,[SPG10],"A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported.",[604187],,,,,Spastic paraplegia 10,TRUE,FALSE,Active +GARD:9591,Active,Orphanet,ORPHA:100989,Disorder,[Disease],Autosomal dominant spastic paraplegia type 8,[SPG8],"A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia.",[603563],,,,,Spastic paraplegia 8,TRUE,FALSE,Active +GARD:9592,Legacy,GARD,,,,,,,,,,,,Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,FALSE,FALSE,Active +GARD:9593,Legacy,GARD,,,,,,,,,,,,Familial hypersecretion of adrenal androgens,TRUE,FALSE,Active +GARD:9595,Active,Orphanet,ORPHA:1195,Disorder,[Disease],Congenital atransferrinemia,[Congenital hypotransferrinemia],"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.",[209300],,,,,Atransferrinemia,TRUE,FALSE,Active +GARD:9596,Legacy,GARD,,,,,,,,,,,,Acquired amegakaryocytic thrombocytopenia,TRUE,FALSE,Active +GARD:9597,Legacy,GARD,,,,,,,,,,,,Postural orthostatic tachycardia syndrome,FALSE,FALSE,Active +GARD:9598,Active,Orphanet+OMIM,OMIM:114100,Subtype of disorder,[Disease subtype],"Basal ganglia calcification, idiopathic, childhood-onset","[cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset, striopallidodentate calcinosis, bilateral, childhood-onset, Ibgc, childhood-onset]","Bilateral striopallidodentate calcinosis, also known as idiopathic basal ganglia calcification (IBGC), is characterized by the accumulation of calcium deposits in different brain regions and is associated with a neurodegenerative clinical phenotype. The changes seen in IBGC occur in the absence of calcium or parathyroid hormone (PTH; {168450}) metabolic disorders, such as hypoparathyroidism (see {146200}) or pseudohypoparathyroidism (PHP; see {103580}).\n\nSee also the adult-onset form ({213600}), which is sometimes erroneously referred to as 'Fahr disease.'",[114100],[51],[Aicardi-Goutières syndrome],[575],,Idiopathic basal ganglia calcification childhood-onset,TRUE,FALSE,Active +GARD:9599,Legacy,GARD,,,,,,,,,,,,"Nystagmus 2, congenital, autosomal dominant",TRUE,FALSE,Active +GARD:960,Active,Orphanet,ORPHA:2619,Disorder,[Disease],"Brachydactylous dwarfism, Mseleni type",[Mseleni joint disease],"A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.",[613342],,,,,Brachydactylous dwarfism Mseleni type,TRUE,FALSE,Active +GARD:9600,Legacy,GARD,,,,,,,,,,,,"Nystagmus 3, congenital, autosomal dominant",TRUE,FALSE,Active +GARD:9601,Legacy,GARD,,,,,,,,,,,,"Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response",TRUE,FALSE,Active +GARD:9602,Active,Orphanet,ORPHA:97,Disorder,[Disease],Familial paroxysmal ataxia,[Episodic ataxia type 2],"A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.",[108500],,,,,Episodic ataxia with nystagmus,TRUE,FALSE,Active +GARD:9603,Legacy,GARD,,,,,,,,,,,,"Nystagmus 4, congenital, autosomal dominant",TRUE,FALSE,Active +GARD:9604,Legacy,GARD,,,,,,,,,,,,"Nystagmus, hereditary vertical",TRUE,FALSE,Active +GARD:9605,Legacy,GARD,,,,,,,,,,,,"Nystagmus, myoclonic",TRUE,FALSE,Active +GARD:9606,Legacy,GARD,,,,,,,,,,,,"Chorea, remitting with nystagmus and cataracts",TRUE,FALSE,Active +GARD:9607,Legacy,GARD,,,,,,,,,,,,"Tremors, nystagmus and duodenal ulcers",TRUE,FALSE,Retired +GARD:9609,Legacy,GARD,,,,,,,,,,,,"Nystagmus, congenital motor, autosomal recessive",TRUE,FALSE,Active +GARD:961,Legacy,GARD,,,,,,,,,,,,Brachydactyly absence of distal phalanges,TRUE,FALSE,Active +GARD:9610,Legacy,GARD,,,,,,,,,,,,Microphthalmia with cataract 1,TRUE,FALSE,Active +GARD:9611,Active,Orphanet,ORPHA:98768,Disorder,[Disease],Spinocerebellar ataxia type 13,[SCA13],Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.,[605259],,,,,Spinocerebellar ataxia 13,TRUE,FALSE,Active +GARD:9612,Legacy,GARD,,,,,,,,,,,,Rud Syndrome,TRUE,FALSE,Active +GARD:9615,Active,Orphanet,ORPHA:397,Disorder,[Disease],Giant cell arteritis,"[Horton disease, Temporal arteritis]","A rare large vessel vasculitis (LVV) characterized by vasculitis predominantly involving the arteries originating from the aortic arch and the extracranial branches of the carotid arteries. Clinical manifestations are variable, the predominant cranial phenotype is characterized by headache, jaw claudication, scalp tenderness and visual symptoms and the predominant LVV type by constitutional symptoms, polymyalgia rheumatica and occasionally limb ischemia. Overlaps between these two phenotypes are common.",[187360],,,,,Giant cell arteritis,TRUE,FALSE,Active +GARD:9616,Active,Orphanet,ORPHA:100994,Disorder,[Disease],Autosomal dominant spastic paraplegia type 13,[SPG13],"A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense.",[605280],,,,,Spastic paraplegia 13,TRUE,FALSE,Active +GARD:9617,Legacy,GARD,,,,,,,,,,,,Desmoplastic infantile astrocytoma,TRUE,FALSE,Active +GARD:9618,Legacy,GARD,,,,,,,,,,,,Granular cell tumor,TRUE,FALSE,Active +GARD:9619,Legacy,GARD,,,,,,,,,,,,Actinic cheilitis,TRUE,FALSE,Active +GARD:962,Legacy,GARD,,,,,,,,,,,,Brachydactyly anonychia,TRUE,FALSE,Active +GARD:9620,Active,Orphanet,ORPHA:318,Disorder,[Disease],Acute erythroid leukemia,"[AML M6, Acute myeloid leukemia M6, Erythroleukemia]","A rare unclassified acute myeloid leukemia characterized by a proliferation of immature cells exclusively of the erythroid lineage without a significant myeloblastic component. Microscopically, the cells may be undifferentiated or proerythroblastic in appearance. Patients may present with pancytopenia with fatigue, infections, and mucocutaneous bleedings, as well as weight loss, fever, and night sweats. Prognosis is poor.",[133180],,,,,Acute erythroid leukemia,TRUE,FALSE,Active +GARD:9621,Active,Orphanet,ORPHA:180229,Disorder,[Disease],Polyembryoma,,"A rare malignant germ cell tumor characterized by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumor component. The tumor usually occurs as the dominant component of a mixed germ cell tumor, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated.",,,,,,Polyembryoma,TRUE,FALSE,Active +GARD:9622,Legacy,GARD,,,,,,,,,,,,Polymorphic reticulosis,TRUE,FALSE,Active +GARD:9623,Legacy,GARD,,,,,,,,,,,,Tylosis,TRUE,FALSE,Retired +GARD:9624,Legacy,GARD,,,,,,,,,,,,Bednar tumor,TRUE,FALSE,Active +GARD:9625,Legacy,GARD,,,,,,,,,,,,Rheumatoid nodulosis,TRUE,FALSE,Active +GARD:9626,Active,Orphanet+OMIM,OMIM:602482,Subtype of disorder,"[Morphological anomaly subtype, Malformation syndrome subtype]","Axenfeld-rieger syndrome, type 3","[rieger syndrome, type 3, anterior chamber cleavage syndrome, Axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss]",,[602482],"[91483, 98978, 782]","[Axenfeld-Rieger syndrome, Axenfeld anomaly, Rieger anomaly]","[16485, 16482, 5701]",,Axenfeld-Rieger syndrome type 3,TRUE,FALSE,Retired +GARD:9628,Active,Orphanet,ORPHA:71517,Disorder,[Disease],Rapid-onset dystonia-parkinsonism,"[DYT12, Dystonia 12]","Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.",[128235],,,,,Rapid-onset dystonia-parkinsonism,TRUE,FALSE,Active +GARD:9629,Legacy,GARD,,,,,,,,,,,,"Dystonia 15, myoclonic",TRUE,FALSE,Retired +GARD:963,Legacy,GARD,,,,,,,,,,,,Brachydactyly type A3,TRUE,FALSE,Active +GARD:9630,Active,Orphanet,ORPHA:98806,Disorder,[Disease],"Primary dystonia, DYT6 type","[DYT6, Generalized cervical and upper-limb-onset dystonia, Idiopathic torsion dystonia of mixed type]","A rare genetic movement disorder characterized by dystonia affecting at first an upper limb, less frequently beginning in the head and neck region, before slowly spreading to other locations. The clinical spectrum, like age of onset, is variable with focal, segmental, or generalized distribution, but cranial involvement with speech difficulties and cervical involvement are typical, whereas lower limbs are often spared. With progression of the disease, many patients suffer from generalized dystonia while mostly remaining ambulatory.",[602629],,,,,DYT-THAP1,TRUE,FALSE,Active +GARD:9631,Active,Orphanet+OMIM,OMIM:602554,Subtype of disorder,[Disease subtype],Torsion dystonia with onset in infancy,,"{1:Mostofsky et al. (1996)} reported a father and his daughter with torsion dystonia that could not be attributed to exogenous factors or other neurologic disorders. The first signs of the disorder in both patients appeared during the first year of life. The main manifestations included generalized dystonia with severe involvement of the legs and mild involvement of the face and arms, no progression of symptoms after 10 years of age, no evidence of parkinsonism, and no intellectual, cerebellar, or sensory involvement. Among 850 cases of idiopathic torsion dystonia ({128100}) collected from the literature, the authors found only 2 reports with onset before 3 years of age; the inheritance pattern in these 2 cases was not reported. No response to dopaminergic agents excluded dopa-responsive dystonia ({128230}). {1:Mostofsky et al. (1996)} suggested that the disorder in this family may represent a distinct autosomal dominant dystonia syndrome.",[602554],[256],[Early-onset generalized limb-onset dystonia],[2027],,Torsion dystonia with onset in infancy,TRUE,FALSE,Retired +GARD:9632,Active,Orphanet,ORPHA:77295,Subtype of disorder,[Clinical subtype],Odontoleukodystrophy,"[Dentoleukoencephalopathy, Leukodystrophy with oligodontia]",,[607694],,,,,POLR3-Related Leukodystrophy,TRUE,FALSE,Active +GARD:9633,Active,Orphanet+OMIM,OMIM:264420,Subtype of disorder,[Disease subtype],"Fundus dystrophy, pseudoinflammatory, recessive form","[Pfd, lavia type, pfd, finnish type]","Pseudoinflammatory fundus dystrophy was described by {6:Sorsby et al. (1949)} as a dominant disorder (see {136900}). The existence of a recessive form was suggested by several reports. From Finland, {3:Forsius et al. (1982)} reported a family in which both parents (who were related) were affected and all of their 8 children were also affected. Among collateral relatives, 3 other cases were found. All affected individuals over age 30 years had an 'exudative' process in the central part of the retina, often complicated at some stage by hemorrhages. The age of onset varied from the second to the fourth decade. Myopia increased rapidly in the active stages. The recessive form may have somewhat earlier age of onset on the average. An apparently recessive form was reported in 1 family by {5:Sorsby (1940)}. {4:Francois (1961)} reported 2 brothers who were thought to have the recessive form. {1:Eriksson et al. (1990)} provided follow-up on the family reported by {3:Forsius et al. (1982)}. They presented a pedigree documenting that the grandparents and parents of all 8 affected children were related in many ways. One of the 8 children had an affected daughter and an unaffected son. {1:Eriksson et al. (1990)} gave a comparison of the autosomal dominant and autosomal recessive forms of pseudoinflammatory fundus dystrophy, called by them the Sorsby type and the Lavia (Finnish) type, respectively. The Finnish type, thought to be inherited as an autosomal recessive, had earlier onset than the Sorsby type, with relatively rapid loss of visual acuity and striking peripheral retinal degeneration and secondary dyschromatopsia. Dark adaptation was normal in the Sorsby type and disturbed in the Lavia type.\n\nHowever, after heterozygous mutations in the gene encoding tissue inhibitor of metalloproteinases-3 (TIMP3; {188826}) were found as the cause of Sorsby fundus dystrophy, {2:Felbor et al. (1997)} restudied the Lavia kindred and showed that all affected members were heterozygous for a gly166-to-cys mutation in the TIMP3 gene ({188826.0004}) and provided strong evidence for an autosomal dominant inheritance of the Sorsby fundus dystrophy phenotype in this kindred. They concluded from all available data that SFD is a genetically homogeneous, although clinically heterogeneous, autosomal dominant disorder.",[264420],[59181],[Sorsby pseudoinflammatory fundus dystrophy],[16480],,Pseudoinflammatory fundus dystrophy,TRUE,FALSE,Active +GARD:9634,Active,Orphanet,ORPHA:994,Disorder,[Malformation syndrome],Fetal akinesia deformation sequence,"[Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome, FADS, Pena-Shokeir syndrome type 1]","The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.","[208150, 300073, 618388, 618389, 618393, 618975]",,,,,Fetal akinesia deformation sequence,TRUE,FALSE,Active +GARD:9635,Active,Orphanet,ORPHA:64745,Disorder,[Disease],Pruritic urticarial papules and plaques of pregnancy,"[PUPPP, Polymorphic eruption of pregnancy]","A rare skin disease characterized by urticarial papules and plaques with severe pruritus mainly on the abdomen, buttocks, and proximal thighs. The condition usually develops during the third trimester of the first pregnancy, although presentation in the postpartum period, which may also feature other types of skin lesions, has been described in some cases. The symptoms generally resolve within few weeks.",[178995],,,,,Pruritic urticarial papules plaques of pregnancy,TRUE,FALSE,Active +GARD:9636,Legacy,GARD,,,,,,,,,,,,Adenosarcoma of the uterus,TRUE,FALSE,Active +GARD:9637,Legacy,GARD,,,,,,,,,,,,Spastic diplegia cerebral palsy,TRUE,FALSE,Active +GARD:9640,Active,Orphanet,ORPHA:33110,Subtype of disorder,[Clinical subtype],Autosomal agammaglobulinemia,"[Agammaglobulinemia, non-Bruton type]","A rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.","[613506, 616941, 613500, 615214, 613501, 613502, 601495, 612692]",,,,,"Agammaglobulinemia, non-Bruton type",TRUE,FALSE,Active +GARD:9641,Legacy,GARD,,,,,,,,,,,,Rufous oculocutaneous albinism,TRUE,FALSE,Active +GARD:9642,Active,Orphanet+OMIM,OMIM:600116,Subtype of disorder,[Disease subtype],"Parkinson disease 2, autosomal recessive juvenile","[parkinsonism, early-onset, with diurnal fluctuation, Parkinson disease, juvenile, autosomal recessive]",,[600116],[2828],[Young-onset Parkinson disease],[16610],,Autosomal recessive juvenile Parkinson disease,TRUE,FALSE,Active +GARD:9643,Active,Orphanet,ORPHA:758,Disorder,[Disease],Pseudoxanthoma elasticum,"[Gronblad-Strandberg-Touraine syndrome, PXE]","A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls.","[177850, 264800]",,,,,Pseudoxanthoma elasticum,TRUE,FALSE,Active +GARD:9644,Legacy,GARD,,,,,,,,,,,,Multicentric Castleman Disease,TRUE,FALSE,Active +GARD:9645,Legacy,GARD,,,,,,,,,,,,Human T-cell leukemia virus type 1,TRUE,FALSE,Active +GARD:9646,Legacy,GARD,,,,,,,,,,,,Spinal muscular atrophy Ryukyuan type,TRUE,FALSE,Active +GARD:9647,Active,Orphanet,ORPHA:98957,Disorder,[Disease],Gelatinous drop-like corneal dystrophy,"[GDCD, Primary familial amyloidosis of the cornea, Subepithelial amyloidosis of the cornea]","Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.",[204870],,,,,Amyloidosis corneal,TRUE,FALSE,Active +GARD:9648,Legacy,GARD,,,,,,,,,,,,Medial Medullary Syndrome,TRUE,FALSE,Active +GARD:9649,Active,Orphanet+OMIM,OMIM:216900,Subtype of disorder,[Disease subtype],Achromatopsia 2,"[Colorblindness, total, rod monochromatism 2, rod monochromacy 2]","Total colorblindness, also referred to as rod monochromacy or complete achromatopsia, is a rare congenital autosomal recessive disorder characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colors. Electroretinographic recordings show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor responses are absent (summary by {7:Kohl et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Total Achromatopsia\n\nA form of achromatopsia previously designated achromatopsia-1 (ACHM1) was later found to be the same as achromatopsia-3 (ACHM3; {262300}), caused by mutation in the CNGB3 gene ({605080}). ACHM4 ({613856}) is caused by mutation in the GNAT2 gene ({139340}); ACHM5 ({613093}) is caused by mutation in the PDE6C gene ({600827}); ACHM6 (see {610024}) is caused by mutation in the PDE6H gene ({601190}); and ACHM7 ({616517}) is caused by mutation in the ATF6 gene ({605537}).",[216900],[49382],[Achromatopsia],[15015],,Achromatopsia 2,TRUE,FALSE,Active +GARD:965,Legacy,GARD,,,,,,,,,,,,Brachydactyly dwarfism mental retardation,TRUE,FALSE,Retired +GARD:9650,Active,Orphanet+OMIM,OMIM:262300,Subtype of disorder,[Disease subtype],Achromatopsia 3,"[achromatopsia with myopia, rod monochromacy 1, formerly, total colorblindness with myopia, Pingelapese blindness, achm1, formerly, rod monochromatism 1, formerly]",,[262300],[49382],[Achromatopsia],[15015],,Achromatopsia 3,TRUE,FALSE,Active +GARD:9651,Legacy,GARD,,,,,,,,,,,,Alpha mannosidosis type 2,TRUE,FALSE,Retired +GARD:9652,Active,Orphanet,ORPHA:352540,Disorder,[Disease],Oncogenic osteomalacia,"[Oncogenic hypophosphatemic osteomalacia, TIO, Tumor-induced osteomalacia]","A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children.",,,,,,Oncogenic osteomalacia,TRUE,FALSE,Active +GARD:9653,Legacy,GARD,,,,,,,,,,,,Anterior spinal artery stroke,TRUE,FALSE,Active +GARD:9654,Active,Orphanet,ORPHA:330058,Disorder,[Disease],Hydroa vacciniforme,,"A rare photodermatosis characterized by the development of pruritic or painful vesicles in a photodistributed pattern in response to sunlight exposure. The lesions heal with permanent varioliform scarring. Ocular involvement, deformities of ears and nose, or contractures of the fingers may occasionally be observed. Systemic signs and symptoms are absent. The condition typically occurs in childhood and regresses spontaneously in adolescence or young adulthood.",,,,,,Hydroa vacciniforme,TRUE,FALSE,Active +GARD:9655,Legacy,GARD,,,,,,,,,,,,Hyperacusis,TRUE,FALSE,Active +GARD:9656,Legacy,GARD,,,,,,,,,,,,Pectus carinatum,TRUE,FALSE,Active +GARD:9657,Active,Orphanet,ORPHA:93347,Disorder,[Disease],Anauxetic dysplasia,"[Spondyloepimetaphyseal dysplasia, Menger type, Spondyloepimetaphyseal dysplasia, anauxetic type]","A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present.","[618853, 607095, 617396]",,,,,Anauxetic dysplasia,TRUE,FALSE,Active +GARD:9658,Legacy,GARD,,,,,,,,,,,,Bartter syndrome antenatal type 2,TRUE,FALSE,Active +GARD:9659,Active,Orphanet,ORPHA:93605,Subtype of disorder,[Clinical subtype],Bartter syndrome type 3,[Bartter syndrome type III],"A form of Bartter syndrome characterized by a later age at onset than the other types of Bartter syndrome, typically presenting beyond the first year of life with failure to thrive, hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone and low to normal blood pressure.",[607364],,,,,Bartter syndrome type 3,TRUE,FALSE,Active +GARD:966,Active,Orphanet,ORPHA:1275,Disorder,[Malformation syndrome],Brachydactyly-elbow wrist dysplasia syndrome,"[Brachydactyly-joint dysplasia syndrome, Liebenberg syndrome]","Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.",[186550],,,,,Brachydactyly elbow wrist dysplasia,TRUE,FALSE,Active +GARD:9660,Legacy,GARD,,,,,,,,,,,,Amaurosis fugax,TRUE,FALSE,Active +GARD:9661,Active,Orphanet+OMIM,OMIM:604232,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 3,,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered retinitis pigmentosa ({5:Gu et al., 1997}). SPATA7-associated retinopathy shows a variable age at onset, ranging from infancy to adulthood, as well as phenotypic variability, including intrafamilial differences ({12:Wang et al., 2009}; {1:Avila-Fernandez et al., 2011}; {4:Feldhaus et al., 2018}; {10:Sengillo et al., 2018}).\n\n{8:Mackay et al. (2011)} concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}.\n\n<Subhead> Reviews\n\n{6:Kannabiran (2020)} reviewed reported SPATA7 mutations and the associated phenotypes. The author noted that there were no clear-cut correlations between genotype and phenotype, and that phenotypic heterogeneity had been observed among patients with the same mutation. Clinical variability was also often seen in patients with SPATA7 mutations, with some phenotypes resembling cone-rod dystrophy or choroideremia.",[604232],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 3,TRUE,FALSE,Active +GARD:9662,Active,Orphanet+OMIM,OMIM:604393,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 4,,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (LCA), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa ({3:Gu et al., 1997}). Various intermediate phenotypes between LCA and retinitis pigmentosa are known and are sometimes described as 'early-onset severe rod-cone dystrophy' or 'early-onset retinal degeneration' ({2:Booij et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}; for cone-rod dystrophy, see {120970}.",[604393],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 4,TRUE,FALSE,Active +GARD:9663,Legacy,GARD,,,,,,,,,,,,Buschke-Lowenstein tumor,TRUE,FALSE,Active +GARD:9664,Legacy,GARD,,,,,,,,,,,,Primary malignant melanoma of the cervix,TRUE,FALSE,Active +GARD:9665,Active,Orphanet,ORPHA:99914,Disorder,[Disease],Gynandroblastoma,,,,,,,,Gynandroblastoma,TRUE,FALSE,Active +GARD:9667,Legacy,GARD,,,,,,,,,,,,HHV-6 encephalitis,TRUE,FALSE,Active +GARD:9669,Legacy,GARD,,,,,,,,,,,,Laugier-Hunziker syndrome,TRUE,FALSE,Active +GARD:967,Active,Orphanet,ORPHA:1276,Disorder,[Malformation syndrome],Brachydactyly-arterial hypertension syndrome,"[Bilginturan brachydactyly, Bilginturan syndrome, Brachydactyly type E, with short stature and hypertension]","A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood.",[112410],,,,,Brachydactyly with hypertension,TRUE,FALSE,Active +GARD:9670,Active,Orphanet,ORPHA:329,Disorder,[Disease],Congenital factor XI deficiency,"[Hemophilia C, PTA deficiency, Plasma thromboplastin antecedent deficiency, Rosenthal factor deficiency, Rosenthal syndrome]","A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.",[612416],,,,,Factor XI deficiency,TRUE,FALSE,Active +GARD:9671,Legacy,GARD,,,,,,,,,,,,Lipodermatosclerosis,TRUE,FALSE,Active +GARD:9672,Legacy,GARD,,,,,,,,,,,,Double nails on the fifth toe,TRUE,FALSE,Active +GARD:9673,Active,Orphanet,ORPHA:2152,Disorder,[Malformation syndrome],Mowat-Wilson syndrome,[Hirschsprung disease-intellectual disability syndrome],"A rare multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.",[235730],,,,,Mowat-Wilson syndrome,TRUE,FALSE,Active +GARD:9674,Legacy,GARD,,,,,,,,,,,,Primary cortisol resistance,TRUE,FALSE,Retired +GARD:9675,Active,Orphanet,ORPHA:2306,Disorder,[Malformation syndrome],Isotretinoin-like syndrome,"[Kawashima syndrome, Microtia-aortic arch syndrome]",Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.,[243440],,,,,Isotretinoin embryopathy like syndrome,TRUE,FALSE,Active +GARD:9676,Active,Orphanet,ORPHA:45448,Disorder,[Disease],Miyoshi myopathy,,A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.,"[613318, 254130]",,,,,Miyoshi myopathy,TRUE,FALSE,Active +GARD:9677,Active,Orphanet,ORPHA:98962,Disorder,[Disease],Granular corneal dystrophy type I,"[Classic GCD, Classic granular corneal dystrophy, Corneal dystrophy Groenouw type I, GCD1, GCDI, Granular corneal dystrophy type 1]","Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.",[121900],,,,,Groenouw type I corneal dystrophy,TRUE,FALSE,Active +GARD:9678,Active,Orphanet,ORPHA:98964,Disorder,[Disease],Lattice corneal dystrophy type I,"[Biber-Haab-Dimmer dystrophy, Classic lattice corneal dystrophy, LCD1, LCDI, Lattice corneal dystrophy type 1]",Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.,"[122200, 608471]",,,,,Lattice corneal dystrophy type 1,TRUE,FALSE,Active +GARD:9679,Active,Orphanet,ORPHA:363417,Disorder,[Malformation syndrome],Temtamy preaxial brachydactyly syndrome,,"Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.",[605282],,,,,Temtamy preaxial brachydactyly syndrome,TRUE,FALSE,Active +GARD:968,Active,Orphanet,ORPHA:2946,Disorder,[Malformation syndrome],Brachydactyly-long thumb syndrome,"[Brachydactyly, long thumb type]","Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.",[112430],,,,,Brachydactyly long thumb type,TRUE,FALSE,Active +GARD:9681,Active,Orphanet,ORPHA:140976,Disorder,[Disease],RHYNS syndrome,[Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome],"A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.",[602152],,,,,RHYNS syndrome,TRUE,FALSE,Active +GARD:9682,Active,Orphanet,ORPHA:309803,Subtype of disorder,[Etiological subtype],Rhizomelic chondrodysplasia punctata type 3,,,[600121],,,,,Rhizomelic chondrodysplasia punctata type 3,TRUE,FALSE,Active +GARD:9683,Active,Orphanet,ORPHA:71,Disorder,[Disease],Chylomicron retention disease,"[Anderson disease, CMRD, CRD]","Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.",[246700],,,,,Chylomicron retention disease,TRUE,FALSE,Active +GARD:9684,Active,Orphanet,ORPHA:71272,Disorder,[Disease],Sandifer syndrome,,"Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.",,,,,,Sandifer syndrome,TRUE,FALSE,Active +GARD:9687,Active,Orphanet,ORPHA:1247,Disorder,[Disease],Schistosomiasis,[Bilharziasis],"Schistosomiasis is an infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.",[181460],,,,,Schistosomiasis,TRUE,FALSE,Active +GARD:9688,Active,Orphanet,ORPHA:98954,Disorder,[Disease],Meesmann corneal dystrophy,"[Juvenile hereditary epithelial dystrophy of Meesmann, MECD]","Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.","[122100, 618767]",,,,,Meesmann corneal dystrophy,TRUE,FALSE,Active +GARD:9689,Active,Orphanet+OMIM,OMIM:254210,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 6, presynaptic","[Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea, myasthenia gravis, familial infantile, 2, formerly, cms ia2, formerly, myasthenia, familial infantile, formerly, congenital myasthenic syndrome type ia2, formerly]","Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by {3:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[254210],[98914],[Presynaptic congenital myasthenic syndromes],[15023],,Congenital myasthenic syndrome with episodic apnea,TRUE,FALSE,Active +GARD:969,Legacy,GARD,,,,,,,,,,,,Brachydactyly-mesomelia-mental retardation-heart defects syndrome,TRUE,FALSE,Retired +GARD:9690,Active,Orphanet,ORPHA:97332,Disorder,[Disease],Kienbock disease,"[Aseptic necrosis of the lunate bone, Lunatomalacia, Osteochondrosis of the lunate bone, Progressive avascular necrosis of the lunate bone]","Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.",,,,,,Kienbock's disease,TRUE,FALSE,Active +GARD:9691,Legacy,GARD,,,,,,,,,,,,Scaphotrapeziotrapezoid arthrodesis,FALSE,FALSE,Draft +GARD:9692,Active,Orphanet,ORPHA:295036,Disorder,[Morphological anomaly],Congenital patella dislocation,,"A rare congenital limb malformation characterized by permanent and manually irreducible lateral dislocation of the kneecap. It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative syndrome.",,,,,,Congenital dislocation of the patella,TRUE,FALSE,Active +GARD:9694,Active,Orphanet,ORPHA:79403,Disorder,[Disease],Junctional epidermolysis bullosa with pyloric atresia,"[Carmi syndrome, JEB with pyloric atresia, JEB-PA]",A severe form of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.,[226730],,,,,Junctional epidermolysis bullosa with pyloric atresia,TRUE,FALSE,Active +GARD:9695,Legacy,GARD,,,,,,,,,,,,Sakoda complex,TRUE,FALSE,Active +GARD:9696,Active,Orphanet,ORPHA:91481,Disorder,[Disease],Ring dermoid of cornea,[Ring dermoid syndrome],Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.,[180550],,,,,Ring dermoid of cornea,TRUE,FALSE,Active +GARD:9697,Active,Orphanet,ORPHA:65684,Disorder,[Disease],Monomelic amyotrophy,"[Benign focal amyotrophy, Hirayama disease, JMADUE, Juvenile muscular atrophy of distal upper extremity, Juvenile muscular atrophy of the distal upper limb]",Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.,[602440],,,,,Monomelic amyotrophy,TRUE,FALSE,Active +GARD:9698,Active,Orphanet,ORPHA:96167,Disorder,[Malformation syndrome],Recombinant 8 syndrome,"[Duplication 8q/deletion 8p, Rec(8) syndrome, Rec8 syndrome, Recombinant chromosome 8 syndrome, San Luis Valley syndrome]","Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.",[179613],,,,,Recombinant chromosome 8 syndrome,TRUE,FALSE,Active +GARD:9699,Legacy,GARD,,,,,,,,,,,,Ossification of the posterior longitudinal ligament of the spine,FALSE,FALSE,Active +GARD:9700,Legacy,GARD,,,,,,,,,,,,LCAD deficiency,TRUE,FALSE,Active +GARD:9701,Active,Orphanet+OMIM,OMIM:182990,Subtype of disorder,[Morphological anomaly subtype],Spinal intradural arachnoid cysts,,"{1:Aarabi et al. (1979)} reported father and daughter with surgically proven thoracic intradural arachnoid cysts. Two brothers of the father and another daughter were suspected by history to be affected also. One of these was deceased. The other two, with long-term, progressive, painless paraplegia, refused medical evaluation. The cysts were not associated with increased interpediculate distances or with distichiasis and lymphedema. The authors knew of no similar family.",[182990],[2356],[Arachnoid cyst],[17],,Spinal intradural arachnoid cysts,TRUE,FALSE,Active +GARD:9702,Legacy,GARD,,,,,,,,,,,,Hooft disease,TRUE,FALSE,Active +GARD:9703,Active,Orphanet+OMIM,OMIM:608681,Subtype of disorder,[Malformation syndrome subtype],"Spondylocostal dysostosis 2, autosomal recessive",,"Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 ({277300}).",[608681],[2311],[Autosomal recessive spondylocostal dysostosis],[6798],,Spondylocostal dysostosis 2,TRUE,FALSE,Active +GARD:9704,Active,Orphanet,ORPHA:85287,Disorder,[Malformation syndrome],"X-linked intellectual disability, Siderius type",,"X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.",[300263],,,,,"X-linked intellectual disability, Siderius type",TRUE,FALSE,Active +GARD:9705,Active,Orphanet,ORPHA:158668,Disorder,[Disease],Ectodermal dysplasia-skin fragility syndrome,[McGrath syndrome],"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.",[604536],,,,,Ectodermal dysplasia skin fragility syndrome,TRUE,FALSE,Active +GARD:9706,Active,Orphanet,ORPHA:91496,Disorder,[Disease],Snowflake vitreoretinal degeneration,,"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.",[193230],,,,,Snowflake vitreoretinal degeneration,TRUE,FALSE,Active +GARD:9707,Active,Orphanet,ORPHA:211,Subtype of disorder,[Clinical subtype],Familial cylindromatosis,[Turban tumor syndrome],,[132700],,,,,Familial cylindromatosis,TRUE,FALSE,Retired +GARD:9709,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 1",TRUE,FALSE,Active +GARD:971,Active,Orphanet,ORPHA:1246,Disorder,[Malformation syndrome],Brachydactyly-nystagmus-cerebellar ataxia syndrome,[Biemond syndrome],"A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.",[113400],,,,,Biemond syndrome,TRUE,FALSE,Active +GARD:9710,Legacy,GARD,,,,,,,,,,,,"Restless legs syndrome, susceptibility to, 2",TRUE,FALSE,Active +GARD:9711,Active,Orphanet,ORPHA:46059,Disorder,[Disease],Lathosterolosis,[Sterol C5-desaturase deficiency],"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.",[607330],,,,,Lathosterolosis,TRUE,FALSE,Active +GARD:9712,Legacy,GARD,,,,,,,,,,,,Mycobacterium Marinum,TRUE,FALSE,Active +GARD:9713,Legacy,GARD,,,,,,,,,,,,Levotransposition of the great arteries,TRUE,FALSE,Active +GARD:9714,Legacy,GARD,,,,,,,,,,,,Littoral cell angioma of the spleen,TRUE,FALSE,Active +GARD:9715,Active,Orphanet,ORPHA:79478,Subtype of disorder,[Clinical subtype],Griscelli syndrome type 3,[Griscelli-Pruniéras syndrome type 3],,[609227],,,,,Griscelli syndrome type 3,TRUE,FALSE,Active +GARD:9716,Legacy,GARD,,,,,,,,,,,,Aspergillus niger infection,TRUE,FALSE,Active +GARD:9717,Legacy,GARD,,,,,,,,,,,,Left-sided gallbladder,TRUE,FALSE,Active +GARD:9718,Legacy,GARD,,,,,,,,,,,,Fibrocartilaginous embolism,TRUE,FALSE,Active +GARD:9719,Legacy,GARD,,,,,,,,,,,,Orbital lymphoma,TRUE,FALSE,Active +GARD:972,Active,Orphanet,ORPHA:1278,Disorder,[Malformation syndrome],Brachydactyly-preaxial hallux varus syndrome,,"A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994.",[112450],,,,,Brachydactyly preaxial with hallux varus and thumb abduction,TRUE,FALSE,Active +GARD:9720,Legacy,GARD,,,,,,,,,,,,Orbital lymphangioma,TRUE,FALSE,Active +GARD:9721,Legacy,GARD,,,,,,,,,,,,Herpes zoster ophthalmicus,TRUE,FALSE,Active +GARD:9722,Legacy,GARD,,,,,,,,,,,,Congenital pseudoarthrosis,TRUE,FALSE,Active +GARD:9723,Active,Orphanet,ORPHA:1883,Disorder,[Malformation syndrome],Ectodermal dysplasia-sensorineural deafness syndrome,[Ectodermal dysplasia-sensorineural hearing loss syndrome],"Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.",[224800],,,,,Congenital ectodermal dysplasia with hearing loss,TRUE,FALSE,Active +GARD:9724,Legacy,GARD,,,,,,,,,,,,Nipah virus encephalitis,TRUE,FALSE,Active +GARD:9725,Active,Orphanet,ORPHA:137617,Disorder,[Disease],Nephrogenic systemic fibrosis,[Nephrogenic fibrosing dermopathy],"Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.",,,,,,Nephrogenic Systemic Fibrosis,TRUE,FALSE,Active +GARD:9726,Active,Orphanet+OMIM,OMIM:603622,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 17",,,[603622],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 17",TRUE,FALSE,Active +GARD:9728,Active,Orphanet,ORPHA:606,Disorder,[Disease],Proximal myotonic myopathy,"[Myotonic dystrophy type 2, Proximal myotonic dystrophy, Ricker disease, Ricker syndrome]","A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.",[602668],,,,,Myotonic dystrophy type 2,TRUE,FALSE,Active +GARD:9729,Active,Orphanet,ORPHA:101009,Disorder,[Disease],Autosomal dominant spastic paraplegia type 29,[SPG29],"A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.",[609727],,,,,Spastic paraplegia 29,TRUE,FALSE,Active +GARD:9730,Active,Orphanet,ORPHA:34587,Disorder,[Disease],Glycogen storage disease due to LAMP-2 deficiency,"[Danon disease, GSD due to LAMP-2 deficiency, Glycogenosis due to LAMP-2 deficiency, Lysosomal glycogen storage disease with normal acid maltase activity]","Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.",[300257],,,,,Danon disease,TRUE,FALSE,Active +GARD:9731,Legacy,GARD,,,,,,,,,,,,Bobble-head doll syndrome,TRUE,FALSE,Active +GARD:9732,Active,Orphanet,ORPHA:98956,Disorder,[Disease],Epithelial basement membrane dystrophy,"[Anterior basement membrane dystrophy, Cogan microcystic epithelial dystrophy, EBMD, Map-dot-fingerprint dystrophy]","A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner.",[121820],,,,,Epithelial basement membrane corneal dystrophy,TRUE,FALSE,Active +GARD:9733,Active,Orphanet+OMIM,OMIM:601277,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 4a","[ichthyosis, lamellar, 2, formerly, Ichthyosis congenita iib]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({8:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {7:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[601277],[313],[Lamellar ichthyosis],[10803],,Ichthyosis lamellar 2,TRUE,FALSE,Active +GARD:9734,Active,Orphanet+OMIM,OMIM:604777,Subtype of disorder,[Disease subtype],"Ichthyosis, congenital, autosomal recessive 5","[ichthyosis congenita iii, ichthyosis, lamellar, 3, formerly, Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive]","Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {4:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({7:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {3:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {5:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).",[604777],[313],[Lamellar ichthyosis],[10803],,Ichthyosis lamellar 3,TRUE,FALSE,Active +GARD:9735,Legacy,GARD,,,,,,,,,,,,"Ichthyosis lamellar, autosomal dominant",TRUE,FALSE,Active +GARD:9736,Active,Orphanet,ORPHA:79394,Disorder,[Disease],Congenital non-bullous ichthyosiform erythroderma,"[CIE, Erythrodermic ichthyosis, Non-bullous congenital ichthyosiform erythroderma]","Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.","[615023, 606545, 615024, 612281, 242100, 615022]",,,,,Nonbullous congenital ichthyosiform erythroderma,TRUE,FALSE,Active +GARD:9737,Active,Orphanet,ORPHA:79397,Disorder,[Disease],Epidermolysis bullosa simplex with mottled pigmentation,"[EBS with mottled pigmentation, EBS-MP]","A rare, inherited, epidermolysis bullosa simplex characterized by neonatal or infantile onset of generalized blistering with mottled or reticulate brown pigmentation developing later. Blistering is often accompanied by mild nail dystrophy and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk.",[131960],,,,,Epidermolysis bullosa simplex with mottled pigmentation,TRUE,FALSE,Active +GARD:9738,Legacy,GARD,,,,,,,,,,,,Kyrle disease,TRUE,FALSE,Active +GARD:9739,Legacy,GARD,,,,,,,,,,,,Xanthogranulomatous sialadenitis,TRUE,FALSE,Active +GARD:974,Legacy,GARD,,,,,,,,,,,,Brachydactyly small stature face anomalies,TRUE,FALSE,Active +GARD:9740,Active,Orphanet,ORPHA:334,Disorder,[Disease],Familial atrial fibrillation,,"Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.","[608988, 612240, 611819, 611493, 611494, 613055, 614049, 615377, 608583, 613120, 614050, 615378, 615770, 617280, 614022, 607554, 612201, 613980]",,,,,Familial atrial fibrillation,TRUE,FALSE,Active +GARD:9741,Active,Orphanet,ORPHA:137754,Disorder,[Disease],Neurological conditions associated with aminoacylase 1 deficiency,"[ACY1D, N-acyl-L-amino acid amidohydrolase deficiency]",An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.,[609924],,,,,Aminoacylase 1 deficiency,TRUE,FALSE,Active +GARD:9742,Active,Orphanet,ORPHA:78,Disorder,[Disease],Ankylostomiasis,"[Ancylostomiasis, Hookworm infection]","A hookworm infection caused primarily by the species Ancylostoma duodenale or Necator americanus, usually acquired through penetration of the skin, (often asymptomatic but that can also manifest with an allergic reaction at the site of skin penetration), followed by the migration of larva through the bloodstream to the lungs (causing asymptomatic pneumonitis, eosinophilia) and finally reaching and colonizing the small intestines where they cause blood extravasation leading to diarrhea, abdominal pain, and when untreated, melena, iron-deficiency anemia and protein malnutrition.",,,,,,Ancylostomiasis,TRUE,FALSE,Active +GARD:9743,Legacy,GARD,,,,,,,,,,,,Duodenal ulcer due to antral G-cell hyperfunction,TRUE,FALSE,Active +GARD:9744,Active,Orphanet,ORPHA:79100,Disorder,[Disease],Atrophoderma vermiculata,[Folliculitis ulerythematosa reticulate],"A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic ''honeycomb'' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs.","[209700, 604093]",,,,,Atrophoderma vermiculata,TRUE,FALSE,Active +GARD:9745,Legacy,GARD,,,,,,,,,,,,Metagonimiasis,TRUE,FALSE,Active +GARD:9746,Legacy,GARD,,,,,,,,,,,,Opisthorchiasis,TRUE,FALSE,Active +GARD:9747,Legacy,GARD,,,,,,,,,,,,Cercarial Dermatitis,TRUE,FALSE,Active +GARD:9748,Active,Orphanet,ORPHA:90291,Disorder,[Disease],Systemic sclerosis,[Systemic scleroderma],"Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms).",[181750],,,,,Systemic scleroderma,TRUE,FALSE,Active +GARD:9749,Active,Orphanet,ORPHA:220407,Subtype of disorder,[Clinical subtype],Limited systemic sclerosis,[Systemic sclerosis sine scleroderma],Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin.,,,,,,Limited systemic sclerosis,TRUE,FALSE,Active +GARD:9750,Legacy,GARD,,,,,,,,,,,,Di Guglielmo's syndrome,TRUE,FALSE,Active +GARD:9751,Active,Orphanet,ORPHA:220393,Subtype of disorder,[Clinical subtype],Diffuse cutaneous systemic sclerosis,"[Diffuse cutaneous systemic scleroderma, Progressive cutaneous systemic scleroderma, Progressive cutaneous systemic sclerosis]","Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).",,,,,,Diffuse cutaneous systemic sclerosis,TRUE,FALSE,Active +GARD:9752,Legacy,GARD,,,,,,,,,,,,Cutaneous sclerosis,TRUE,FALSE,Active +GARD:9753,Legacy,GARD,,,,,,,,,,,,Juvenile Scleroderma,TRUE,FALSE,Retired +GARD:9754,Legacy,GARD,,,,,,,,,,,,Nguyen syndrome,TRUE,FALSE,Active +GARD:9755,Active,Orphanet,ORPHA:411629,Subtype of disorder,[Clinical subtype],Infantile nephropathic cystinosis,,"A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome.",[219800],,,,,Nephropathic cystinosis,TRUE,FALSE,Retired +GARD:9756,Active,Orphanet,ORPHA:411641,Subtype of disorder,[Clinical subtype],Ocular cystinosis,"[Adult-onset cystinosis, Non-nephropathic cystinosis]","Ocular cystinosis is the benign, adult form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.",[219750],,,,,"Cystinosis, ocular nonnephropathic",TRUE,FALSE,Retired +GARD:9757,Legacy,GARD,,,,,,,,,,,,Red skin pigment anomaly of New Guinea,TRUE,FALSE,Active +GARD:9758,Active,Orphanet,ORPHA:101049,Subtype of disorder,[Etiological subtype],Familial hypocalciuric hypercalcemia type 2,[FHH type 2],,[145981],,,,,Familial hypocalciuric hypercalcemia type 2,TRUE,FALSE,Active +GARD:9759,Active,Orphanet,ORPHA:2387,Disorder,[Disease],Leukonychia totalis,,"Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.",[151600],,,,,Leukonychia totalis,TRUE,FALSE,Active +GARD:9760,Legacy,GARD,,,,,,,,,,,,Hereditary koilonychia,TRUE,FALSE,Active +GARD:9761,Active,Orphanet,ORPHA:79144,Disorder,[Disease],Isolated congenital onychodysplasia,"[COIF, COIF syndrome, Congenital onychodysplasia of the index fingers, Iso-Kikuchi syndrome]","A rare isolated nail anomaly characterized by congenital unilateral or bilateral nail dysplasia (including micronychia, polyonychia, anonychia, hemionychrogryphosis, and malalignment) commonly involving the index fingers and/or other fingers or also toes, frequently associated with bony anomalies of the affected digits (such as Y-shaped bifurcation of the distal phalanx, brachymesophalangy, or syndactyly). The condition can be sporadic or familial.",[605779],,,,,"Nail dysplasia, isolated congenital",TRUE,FALSE,Active +GARD:9762,Active,Orphanet,ORPHA:52022,Disorder,[Malformation syndrome],Potocki-Shaffer syndrome,"[11p11.2 deletion, Proximal 11p deletion syndrome]","A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others.",[601224],,,,,Potocki-Shaffer syndrome,TRUE,FALSE,Active +GARD:9764,Legacy,GARD,,,,,,,,,,,,Pseudoainhum,TRUE,FALSE,Active +GARD:9765,Legacy,GARD,,,,,,,,,,,,Myokymia with neonatal epilepsy,TRUE,FALSE,Active +GARD:9766,Active,Orphanet,ORPHA:83467,Disorder,[Disease],Morvan syndrome,"[Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome, Morvan fibrillary chorea]","Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.",,,,,,Morvan's fibrillary chorea,TRUE,FALSE,Active +GARD:9767,Active,Orphanet,ORPHA:391673,Disorder,[Disease],Necrotizing enterocolitis,,"A rare intestinal disease characterized by potentially life-threatening inflammatory bowel necrosis predominantly affecting preterm neonates. Patients may present with feeding intolerance, lethargy, temperature instability, abdominal distention, blood-stained stools, diarrhea, bilious vomiting, apnea, and signs of sepsis. Radiographic features include pneumatosis intestinalis, portal venous gas, presence of fixed, dilated intestinal loops, bowel wall edema, and (in case of bowel perforation) pneumoperitoneum.",,,,,,Necrotizing enterocolitis,TRUE,FALSE,Active +GARD:9768,Legacy,GARD,,,,,,,,,,,,Pityriasis lichenoides et varioliformis acuta,TRUE,FALSE,Active +GARD:9769,Active,Orphanet,ORPHA:251656,Disorder,[Disease],Oligoastrocytoma,"[MOA, Mixed oligoastrocytoma]","Oligoastrocytoma is a type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and, in some, subarachnoid haemorrhage.",,,,,,Oligoastrocytoma,TRUE,FALSE,Active +GARD:977,Legacy,GARD,,,,,,,,,,,,Brachydactyly tibial hypoplasia,TRUE,FALSE,Active +GARD:9770,Legacy,GARD,,,,,,,,,,,,Fuchs atrophia gyrata chorioideae et retina,TRUE,FALSE,Retired +GARD:9771,Legacy,GARD,,,,,,,,,,,,Clostridium sordellii infection,TRUE,FALSE,Active +GARD:9772,Legacy,GARD,,,,,,,,,,,,Stenotrophomonas maltophilia infection,TRUE,FALSE,Active +GARD:9773,Legacy,GARD,,,,,,,,,,,,Mycobacterium fortuitum,TRUE,FALSE,Active +GARD:9774,Legacy,GARD,,,,,,,,,,,,Pasteurella multocida infection,TRUE,FALSE,Active +GARD:9775,Active,Orphanet,ORPHA:79145,Disorder,[Disease],Dowling-Degos disease,[Reticular pigment anomaly of flexures],"A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.","[179850, 615674, 615696, 615327]",,,,,Dowling-Degos disease,TRUE,FALSE,Active +GARD:9777,Legacy,GARD,,,,,,,,,,,,Pulmonary arteriovenous malformation,TRUE,FALSE,Active +GARD:9778,Active,Orphanet,ORPHA:71279,Disorder,[Disease],CANOMAD syndrome,"[CANDA syndrome, Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome, Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies]","A rare chronic immune-mediated polyneuropathy characterized by a progressive disabling neuropathy with marked gait disturbance primarily due to sensory ataxia with concurrent cranial neuropathies (internal or external ophthalmoplegia, dysphagia, dysarthria, or facial weakness) and anti-disialosyl IgM antibodies.",,,,,,CANOMAD syndrome,TRUE,FALSE,Active +GARD:9779,Legacy,GARD,,,,,,,,,,,,Aerobic actinomyces infection,TRUE,FALSE,Active +GARD:978,Active,Orphanet,ORPHA:93388,Disorder,[Malformation syndrome],Brachydactyly type A1,"[Brachydactyly, Farabee type]","A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.","[616849, 615072, 112500, 607004]",,,,,Brachydactyly type A1,TRUE,FALSE,Active +GARD:9780,Legacy,GARD,,,,,,,,,,,,Paine syndrome,TRUE,FALSE,Active +GARD:9781,Active,Orphanet,ORPHA:1762,Disorder,[Malformation syndrome],Proximal Xq28 duplication syndrome,"[MECP2 duplication syndrome, X-linked intellectual disability syndrome, Lubs type]","A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.","[300815, 300260]",,,,,MECP2 duplication syndrome,TRUE,FALSE,Active +GARD:9783,Legacy,GARD,,,,,,,,,,,,Human T-cell leukemia virus type 2,TRUE,FALSE,Active +GARD:9784,Legacy,GARD,,,,,,,,,,,,Human T-cell leukemia virus type 3,TRUE,FALSE,Active +GARD:9785,Legacy,GARD,,,,,,,,,,,,Streptococcal Group B invasive disease,TRUE,FALSE,Active +GARD:9786,Legacy,GARD,,,,,,,,,,,,Group B strep disease in newborns,TRUE,FALSE,Active +GARD:9787,Active,Orphanet,ORPHA:90307,Disorder,[Disease],Parkes Weber syndrome,,,[608354],,,,,Parkes Weber syndrome,TRUE,FALSE,Active +GARD:9788,Legacy,GARD,,,,,,,,,,,,"Basal cell carcinoma, infundibulocystic",TRUE,FALSE,Active +GARD:9789,Active,Orphanet,ORPHA:2415,Group of disorders,[Category],Rare lymphatic malformation,"[LM, Lymphangioma]",,,,,,,Lymphatic malformations,TRUE,FALSE,Active +GARD:979,Active,Orphanet,ORPHA:93396,Disorder,[Malformation syndrome],Brachydactyly type A2,"[Brachydactyly, Mohr-Wriedt type]","A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder.",[112600],,,,,Brachydactyly type A2,TRUE,FALSE,Active +GARD:9790,Legacy,GARD,,,,,,,,,,,,Anterior ischemic optic neuropathy,TRUE,FALSE,Active +GARD:9791,Active,Orphanet+OMIM,OMIM:600204,Subtype of disorder,[Disease subtype],"Epiphyseal dysplasia, multiple, 2",,"Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease. Onset of the disorder is usually in childhood (summary by {4:Jackson et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of EDM, see EDM1 ({132400}).",[600204],[166002],[Multiple epiphyseal dysplasia due to collagen 9 anomaly],[15024],,Multiple epiphyseal dysplasia 2,TRUE,FALSE,Active +GARD:9792,Active,Orphanet+OMIM,OMIM:600969,Subtype of disorder,[Disease subtype],"Epiphyseal dysplasia, multiple, 3",,"Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints ({2:Muragaki et al., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 ({132400}).",[600969],[166002],[Multiple epiphyseal dysplasia due to collagen 9 anomaly],[15024],,Multiple epiphyseal dysplasia 3,TRUE,FALSE,Active +GARD:9793,Active,Orphanet,ORPHA:93307,Disorder,[Disease],Multiple epiphyseal dysplasia type 4,"[Autosomal recessive multiple epiphyseal dysplasia, EDM4, MED4, Polyepiphyseal dysplasia type 4, rMED]","Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.",[226900],,,,,Multiple epiphyseal dysplasia 4,TRUE,FALSE,Active +GARD:9794,Active,Orphanet,ORPHA:93311,Disorder,[Disease],Multiple epiphyseal dysplasia type 5,"[BHMED, Bilateral hereditary micro-epiphyseal dysplasia, EDM5, MED5, Polyepiphyseal dysplasia type 5]","Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.",[607078],,,,,Multiple epiphyseal dysplasia 5,TRUE,FALSE,Active +GARD:9795,Active,Orphanet,ORPHA:34217,Disorder,[Disease],Naxos disease,"[KWWH type I, Keratoderma with woolly hair type I, Keratosis palmoplantaris with arrythmogenic cardiomyopathy, Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy, Palmoplantar keratoderma with arrythmogenic cardiomyopathy]","A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.",[601214],,,,,Naxos disease,TRUE,FALSE,Active +GARD:9796,Active,Orphanet,ORPHA:275517,Disorder,[Disease],Autoimmune lymphoproliferative syndrome with recurrent viral infections,"[ALPS with recurrent viral infections, CEDS, Caspase 8 deficiency syndrome]",A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.,[607271],,,,,Caspase-8 deficiency,TRUE,FALSE,Active +GARD:9797,Active,Orphanet,ORPHA:275523,Disorder,[Disease],Dianzani autoimmune lymphoproliferative disease,[DALD],"Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.",[605233],,,,,Dianzani autoimmune lymphoproliferative syndrome,TRUE,FALSE,Active +GARD:9798,Active,Orphanet,ORPHA:137888,Disorder,[Malformation syndrome],Auriculocondylar syndrome,[Question mark ear syndrome],"A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental delay, hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported.","[602483, 612798, 615706, 614669]",,,,,Auriculo-condylar syndrome,TRUE,FALSE,Active +GARD:9799,Active,Orphanet,ORPHA:53296,Disorder,[Disease],Familial cutaneous collagenoma,,"Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.",[115250],,,,,Familial cutaneous collagenoma,TRUE,FALSE,Active +GARD:98,Legacy,GARD,,,,,,,,,,,,Myasthenia gravis congenital,TRUE,FALSE,Retired +GARD:9801,Legacy,GARD,,,,,,,,,,,,Non-dystrophic myotonic disorders,TRUE,FALSE,Retired +GARD:9802,Active,Orphanet,ORPHA:79306,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 1,"[Byler disease, FIC1 deficiency, PFIC1]","PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.",[211600],,,,,Progressive familial intrahepatic cholestasis 1,TRUE,FALSE,Active +GARD:9803,Active,Orphanet,ORPHA:480483,Subtype of disorder,[Clinical subtype],Progressive familial intrahepatic cholestasis type 4,"[PFIC4, TJP2 deficit]",,[615878],,,,,Progressive familial intrahepatic cholestasis-4,TRUE,FALSE,Active +GARD:9804,Active,Orphanet,ORPHA:69665,Disorder,[Disease],Intrahepatic cholestasis of pregnancy,"[Gravidic intrahepatic cholestasis, Pregnancy-related cholestasis, Recurrent intrahepatic cholestasis of pregnancy]","Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.","[614972, 147480]",,,,,Intrahepatic cholestasis of pregnancy,TRUE,FALSE,Active +GARD:9805,Legacy,GARD,,,,,,,,,,,,Morgellons,TRUE,FALSE,Active +GARD:9806,Active,Orphanet,ORPHA:493342,Disorder,[Disease],Vibratory urticaria,,"Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or the sensation of a metallic taste. Concomitant local mast cell degranulation and increased histamine serum levels are additional typical findings.",[125630],,,,,Vibratory urticaria,TRUE,FALSE,Active +GARD:9807,Legacy,GARD,,,,,,,,,,,,Dermatofibroma,FALSE,FALSE,Active +GARD:9808,Active,Orphanet,ORPHA:251612,Disorder,[Disease],Pilocytic astrocytoma,,"Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.",,,,,,Pilocytic astrocytoma,TRUE,FALSE,Active +GARD:9809,Active,Orphanet,ORPHA:86880,Disorder,[Disease],Enteropathy-associated T-cell lymphoma,"[EATL, ETTL, Enteropathy-type T-cell lymphoma, Intestinal T-cell lymphoma]","A rare T-cell non-Hodgkin lymphoma characterized by a neoplasm of intraepithelial T-cells mostly occurring in the jejunum or ileum in patients with celiac disease. The lesion may be multifocal and form ulcerating nodules, plaques, strictures, or an exophytic mass. The mesentery and mesenteric lymph nodes are commonly involved. Patients typically present with abdominal pain, malabsorption or diarrhea, anorexia, weight loss, fatigue, nausea, vomiting, and sometimes intestinal perforation or hemorrhage. Prognosis is generally poor.",,,,,,Enteropathy-associated T-cell lymphoma,TRUE,FALSE,Active +GARD:9810,Active,Orphanet,ORPHA:156731,Disorder,[Disease],"Dyssegmental dysplasia, Rolland-Desbuquois type",,,[224400],,,,,Dyssegmental dysplasia Rolland-Desbuquois type,TRUE,FALSE,Active +GARD:9811,Active,Orphanet,ORPHA:3044,Disorder,[Malformation syndrome],Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,,"A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.",[249599],,,,,Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,TRUE,FALSE,Active +GARD:9812,Active,Orphanet,ORPHA:86872,Disorder,[Disease],T-cell large granular lymphocyte leukemia,"[Proliferation of large granular lymphocytes, T-LGL, T-cell LGL leukemia]",T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.,,,,,,T-cell large granular lymphocyte leukemia,TRUE,FALSE,Active +GARD:9813,Active,Orphanet,ORPHA:79301,Disorder,[Disease],Congenital bile acid synthesis defect type 1,"[3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency, BASD1]","Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.",[607765],,,,,"Congenital bile acid synthesis defect, type 1",TRUE,FALSE,Active +GARD:9814,Active,Orphanet+OMIM,OMIM:609428,Subtype of disorder,[Disease subtype],Tukel syndrome,,,[609428],[45358],[Congenital fibrosis of extraocular muscles],[12590],,Tukel syndrome,TRUE,FALSE,Active +GARD:9815,Legacy,GARD,,,,,,,,,,,,Paragonimiasis,TRUE,FALSE,Active +GARD:9817,Active,Orphanet,ORPHA:98808,Disorder,[Disease],Autosomal dominant dopa-responsive dystonia,"[Autosomal dominant Segawa syndrome, DYT5a, GTPCH1-deficient DRD, GTPCH1-deficient dopa-responsive dystonia, HPD with marked diurnal fluctuation, Hereditary progressive dystonia with marked diurnal fluctuation]",A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.,[128230],,,,,Dopa-responsive dystonia,TRUE,FALSE,Active +GARD:9818,Active,Orphanet,ORPHA:79107,Disorder,[Malformation syndrome],Developmental malformations-deafness-dystonia syndrome,[Developmental malformations-hearing loss-dystonia syndrome],"Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.",[607371],,,,,Juvenile-onset dystonia,TRUE,FALSE,Active +GARD:9819,Legacy,GARD,,,,,,,,,,,,"Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp",TRUE,FALSE,Retired +GARD:982,Legacy,GARD,,,,,,,,,,,,Brachydactyly type A5,TRUE,FALSE,Active +GARD:9820,Active,Orphanet,ORPHA:464343,Disorder,[Disease],Catastrophic antiphospholipid syndrome,"[CAPS, Catastrophic APS]","A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition occurs in a small subset of patients with antiphospholipid syndrome, often precipitated by infection, trauma, or surgery.",,,,,,Catastrophic antiphospholipid syndrome,TRUE,FALSE,Active +GARD:9821,Active,Orphanet,ORPHA:63454,Group of disorders,[Category],Pattern dystrophy,[Patterned dystrophy of the retinal pigment epithelium],,,,,,,Pattern dystrophy,TRUE,FALSE,Active +GARD:9822,Legacy,GARD,,,,,,,,,,,,Anal sphincter dysplasia,TRUE,FALSE,Active +GARD:9823,Legacy,GARD,,,,,,,,,,,,Acardia,TRUE,FALSE,Active +GARD:9824,Legacy,GARD,,,,,,,,,,,,Multifocal choroiditis,TRUE,FALSE,Active +GARD:9826,Active,Orphanet,ORPHA:79318,Disorder,[Disease],PMM2-CDG,"[CDG syndrome type Ia, CDG-Ia, CDG1A, Carbohydrate deficient glycoprotein syndrome type Ia, Congenital disorder of glycosylation type 1a, Congenital disorder of glycosylation type Ia, Phosphomannomutase 2 deficiency]","PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.",[212065],,,,,PMM2-CDG (CDG-Ia),TRUE,FALSE,Active +GARD:9827,Active,Orphanet,ORPHA:79321,Disorder,[Disease],ALG3-CDG,"[CDG syndrome type Id, CDG-Id, CDG1D, Carbohydrate deficient glycoprotein syndrome type Id, Congenital disorder of glycosylation type 1d, Congenital disorder of glycosylation type Id, Mannosyltransferase 6 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).",[601110],,,,,ALG3-CDG (CDG-Id),TRUE,FALSE,Active +GARD:9828,Active,Orphanet,ORPHA:79329,Disorder,[Disease],MGAT2-CDG,"[CDG syndrome type IIa, CDG-IIa, CDG2A, Carbohydrate deficient glycoprotein syndrome type IIa, Congenital disorder of glycosylation type 2a, Congenital disorder of glycosylation type IIa, N-acetylglucosaminyltransferase 2 deficiency]","MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).",[212066],,,,,MGAT2-CDG (CDG-IIa),TRUE,FALSE,Active +GARD:9829,Active,Orphanet,ORPHA:79320,Disorder,[Disease],ALG6-CDG,"[CDG syndrome type Ic, CDG-Ic, CDG1C, Carbohydrate deficient glycoprotein syndrome type Ic, Congenital disorder of glycosylation type 1c, Congenital disorder of glycosylation type Ic, Glucosyltransferase 1 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).",[603147],,,,,ALG6-CDG (CDG-Ic),TRUE,FALSE,Active +GARD:983,Active,Orphanet,ORPHA:93382,Disorder,[Malformation syndrome],Brachydactyly type A6,[Osebold-Remondini syndrome],"Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.",[112910],,,,,Brachydactyly type A6,TRUE,FALSE,Active +GARD:9830,Active,Orphanet,ORPHA:79319,Disorder,[Disease],MPI-CDG,"[CDG syndrome type Ib, CDG-Ib, CDG1B, Carbohydrate deficient glycoprotein syndrome type Ib, Congenital disorder of glycosylation type 1b, Congenital disorder of glycosylation type Ib, Phosphomannose isomerase deficiency]","MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).",[602579],,,,,MPI-CDG (CDG-Ib),TRUE,FALSE,Active +GARD:9831,Active,Orphanet,ORPHA:79322,Disorder,[Disease],DPM1-CDG,"[CDG syndrome type Ie, CDG-Ie, CDG1E, Carbohydrate deficient glycoprotein syndrome type Ie, Congenital disorder of glycosylation type 1e, Congenital disorder of glycosylation type Ie, Dol-P-mannosyltransferase deficiency]","The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.",[608799],,,,,DPM1-CDG (CDG-Ie),TRUE,FALSE,Active +GARD:9832,Active,Orphanet,ORPHA:79323,Disorder,[Disease],MPDU1-CDG,"[CDG syndrome type If, CDG-If, CDG1F, Carbohydrate deficient glycoprotein syndrome type If, Congenital disorder of glycosylation type 1f, Congenital disorder of glycosylation type If]","The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.",[609180],,,,,MPDU1-CDG (CDG-If),TRUE,FALSE,Active +GARD:9833,Active,Orphanet,ORPHA:79324,Disorder,[Disease],ALG12-CDG,"[CDG syndrome type Ig, CDG-Ig, CDG1G, Carbohydrate deficient glycoprotein syndrome type Ig, Congenital disorder of glycosylation type 1g, Congenital disorder of glycosylation type Ig, Mannosyltransferase 8 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).",[607143],,,,,ALG12-CDG (CDG-Ig),TRUE,FALSE,Active +GARD:9834,Active,Orphanet,ORPHA:79325,Disorder,[Disease],ALG8-CDG,"[CDG syndrome type Ih, CDG-Ih, CDG1H, Carbohydrate deficient glycoprotein syndrome type Ih, Congenital disorder of glycosylation type 1h, Congenital disorder of glycosylation type Ih, Glucosyltransferase 2 deficiency]","A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.",[608104],,,,,ALG8-CDG (CDG-Ih),TRUE,FALSE,Active +GARD:9835,Active,Orphanet,ORPHA:96170,Disorder,[Malformation syndrome],Emanuel syndrome,"[Der(22)t(11;22) syndrome, Supernumerary der(22) syndrome]","A constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.",[609029],,,,,Emanuel syndrome,TRUE,FALSE,Active +GARD:9836,Active,Orphanet,ORPHA:79326,Disorder,[Disease],ALG2-CDG,"[CDG syndrome type Ii, CDG-Ii, CDG1I, Carbohydrate deficient glycoprotein syndrome type Ii, Congenital disorder of glycosylation type 1i, Congenital disorder of glycosylation type Ii, Mannosyltransferase 2 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.",[607906],,,,,ALG2-CDG (CDG-Ii),TRUE,FALSE,Active +GARD:9837,Active,Orphanet,ORPHA:86309,Disorder,[Disease],DPAGT1-CDG,"[CDG syndrome type Ij, CDG-Ij, CDG1J, Carbohydrate deficient glycoprotein syndrome type Ij, Congenital disorder of glycosylation type 1j, Congenital disorder of glycosylation type Ij, Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency]","DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).",[608093],,,,,DPAGT1-CDG (CDG-Ij),TRUE,FALSE,Active +GARD:9838,Active,Orphanet,ORPHA:79327,Disorder,[Disease],ALG1-CDG,"[CDG syndrome type Ik, CDG-Ik, CDG1K, Carbohydrate deficient glycoprotein syndrome type Ik, Congenital disorder of glycosylation type 1k, Congenital disorder of glycosylation type Ik, Mannosyltransferase 1 deficiency]","A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).",[608540],,,,,ALG1-CDG (CDG-Ik),TRUE,FALSE,Active +GARD:9839,Active,Orphanet,ORPHA:79328,Disorder,[Disease],ALG9-CDG,"[CDG syndrome type IL, CDG-IL, CDG1L, Carbohydrate deficient glycoprotein syndrome type IL, Congenital disorder of glycosylation type 1L, Mannosyltransferase 7-9 deficiency]","A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).","[263210, 608776]",,,,,ALG9-CDG (CDG-IL),TRUE,FALSE,Active +GARD:984,Active,Orphanet,ORPHA:93397,Disorder,[Malformation syndrome],Brachydactyly type A7,"[Brachydactyly, Smorgasbord type]","A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989.",,,,,,Brachydactyly type A7,TRUE,FALSE,Active +GARD:9840,Legacy,GARD,,,,,,,,,,,,Congenital disorder of glycosylation type I/IIX,TRUE,FALSE,Active +GARD:9841,Active,Orphanet,ORPHA:79332,Disorder,[Disease],B4GALT1-CDG,"[Beta-1,4-galactosyltransferase deficiency, CDG syndrome type IId, CDG-IId, CDG2D, Carbohydrate deficient glycoprotein syndrome type IId, Congenital disorder of glycosylation type 2d, Congenital disorder of glycosylation type IId]","B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.",[607091],,,,,B4GALT1-CDG (CDG-IId),TRUE,FALSE,Active +GARD:9842,Active,Orphanet,ORPHA:79333,Disorder,[Disease],COG7-CDG,"[CDG syndrome type IIe, CDG-IIe, CDG2E, Carbohydrate deficient glycoprotein syndrome type IIe, Congenital disorder of glycosylation type 2e, Congenital disorder of glycosylation type IIe]","COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.",[608779],,,,,COG7-CDG (CDG-IIe),TRUE,FALSE,Active +GARD:9843,Active,Orphanet,ORPHA:90042,Disorder,[Disease],Primary familial polycythemia,"[Congenital erythrocytosis due to erythropoietin receptor mutation, Congenital polycythemia due to erythropoietin receptor mutation, Familial erythrocytosis, PFCP, Primary congenital erythrocytosis, Primary familial and congenital polycythemia]",Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.,[133100],,,,,Primary familial and congenital polycythemia,TRUE,FALSE,Active +GARD:9844,Active,Orphanet,ORPHA:2637,Disorder,[Malformation syndrome],Microcephalic osteodysplastic primordial dwarfism type II,"[MOPD type II, Majewski osteodysplastic primordial dwarfism type II]","A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.",[210720],,,,,Microcephalic osteodysplastic primordial dwarfism type 2,TRUE,FALSE,Active +GARD:9846,Active,Orphanet,ORPHA:168796,Disorder,[Malformation syndrome],"Heart-hand syndrome, Slovenian type","[Atriodigital dysplasia, Slovenian type, Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome]","Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.",[610140],,,,,"Heart-hand syndrome, Slovenian type",TRUE,FALSE,Active +GARD:9847,Active,Orphanet,ORPHA:1350,Disorder,[Malformation syndrome],Heart-hand syndrome type 2,"[Atriodigital dysplasia type 2, Tabatznik syndrome]","Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).",,,,,,Tabatznik syndrome,TRUE,FALSE,Active +GARD:9848,Active,Orphanet,ORPHA:71278,Disorder,[Disease],Congenital brain dysgenesis due to glutamine synthetase deficiency,"[Inherited GS deficiency, Inherited glutamine synthetase deficiency]","A rare neurometabolic disease characterized by neonatal onset of severe epileptic encephalopathy with brain malformations (including cerebral and cerebellar atrophy, white matter abnormalities, delayed gyration or complete agyria, and thin corpus callosum), generalized hypotonia, and lack of normal development. Additional features include facial dysmorphism and necrolytic erythema of the skin. Biochemical hallmarks are decreased levels of glutamine in body fluids and chronic hyperammonemia. Death may occur in the early post-natal period due to multiple organ failure.",[610015],,,,,"Glutamine deficiency, congenital",TRUE,FALSE,Active +GARD:9849,Active,Orphanet,ORPHA:66629,Disorder,[Malformation syndrome],Goldberg-Shprintzen megacolon syndrome,"[GOSHS, Megacolon-microcephaly syndrome]","A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).",[609460],,,,,Goldberg-Shprintzen megacolon syndrome,TRUE,FALSE,Active +GARD:985,Active,Orphanet,ORPHA:93383,Disorder,[Malformation syndrome],Brachydactyly type B,,"A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. Digits on the radial side of the hand are less severely affected than those on the ulnar side. The feet are similarly affected but less severely. Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present.","[113000, 611377]",,,,,Brachydactyly type B,TRUE,FALSE,Active +GARD:9850,Active,Orphanet,ORPHA:3164,Disorder,[Malformation syndrome],"Omphalocele syndrome, Shprintzen-Goldberg type",,"Shprintzen–Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.",[182210],,,,,Shprintzen omphalocele syndrome,TRUE,FALSE,Active +GARD:9851,Legacy,GARD,,,,,,,,,,,,Episodic ataxia,TRUE,FALSE,Active +GARD:9852,Legacy,GARD,,,,,,,,,,,,Nondystrophic myotonia,TRUE,FALSE,Active +GARD:9853,Legacy,GARD,,,,,,,,,,,,Inherited bone marrow failure syndromes,FALSE,FALSE,Active +GARD:9856,Legacy,GARD,,,,,,,,,,,,Pediatric Crohn's disease,TRUE,FALSE,Active +GARD:9857,Legacy,GARD,,,,,,,,,,,,Pediatric ulcerative colitis,TRUE,FALSE,Active +GARD:9858,Legacy,GARD,,,,,,,,,,,,Catamenial pneumothorax,TRUE,FALSE,Active +GARD:986,Active,Orphanet,ORPHA:93384,Disorder,[Malformation syndrome],Brachydactyly type C,,"A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.",[113100],,,,,Brachydactyly type C,TRUE,FALSE,Active +GARD:9860,Legacy,GARD,,,,,,,,,,,,"Amelogenesis imperfecta hypoplastic type, IG",TRUE,FALSE,Active +GARD:9861,Legacy,GARD,,,,,,,,,,,,Trichoscyphodysplasia,TRUE,FALSE,Active +GARD:9862,Legacy,GARD,,,,,,,,,,,,Cyclic thrombocytopenia,TRUE,FALSE,Active +GARD:9863,Active,Orphanet+OMIM,OMIM:186400,Subtype of disorder,[Malformation syndrome subtype],"Synostoses, tarsal, carpal, and digital",[Calcaneonavicular coalition],,[186400],[1412],[Tarsal-carpal coalition syndrome],[9225],,"Synostoses, tarsal, carpal, and digital",TRUE,FALSE,Active +GARD:9866,Active,Orphanet,ORPHA:93360,Disorder,[Disease],Spondyloepimetaphyseal dysplasia with multiple dislocations,"[SEMD-MD, SEMDJL2, Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type, Spondyloepimetaphyseal dysplasia with joint laxity type 2, Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type, Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type]","Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.",[603546],,,,,Spondyloepimetaphyseal dysplasia with multiple dislocations,TRUE,FALSE,Active +GARD:9867,Active,Orphanet,ORPHA:98763,Disorder,[Disease],Spinocerebellar ataxia type 14,[SCA14],"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.",[605361],,,,,Spinocerebellar ataxia 14,TRUE,FALSE,Active +GARD:987,Active,Orphanet,ORPHA:93387,Disorder,[Malformation syndrome],Brachydactyly type E,,"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.","[113300, 613382]",,,,,Brachydactyly type E,TRUE,FALSE,Active +GARD:9870,Active,Orphanet,ORPHA:71212,Disorder,[Disease],Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,"[Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency, Hyperinsulinism due to SCHAD deficiency, Hyperinsulinism due to glutamodehydrogenase deficiency, SCHAD deficiency]","A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure.","[609975, 231530]",,,,,3-alpha hydroxyacyl-CoA dehydrogenase deficiency,TRUE,FALSE,Active +GARD:9872,Legacy,GARD,,,,,,,,,,,,Sideroblastic anemia pyridoxine-responsive autosomal recessive,TRUE,FALSE,Active +GARD:9873,Active,Orphanet,ORPHA:2789,Disorder,[Malformation syndrome],Lateral meningocele syndrome,[Lehman syndrome],"A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal.",[130720],,,,,Lateral meningocele syndrome,TRUE,FALSE,Active +GARD:9874,Active,Orphanet+OMIM,OMIM:608030,Subtype of disorder,[Disease subtype],Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia,,,[608030],"[275872, 803]","[Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis]","[17273, 5786]",,Amyotrophic lateral sclerosis type 6,TRUE,FALSE,Active +GARD:9876,Active,Orphanet+OMIM,OMIM:132900,Subtype of disorder,[Disease subtype],"Aortic aneurysm, familial thoracic 4","[aortic aneurysm/aortic dissection and patent ductus arteriosus, Faa4]",,[132900],[91387],[Familial thoracic aortic aneurysm and aortic dissection],[2249],,"Aortic aneurysm, familial thoracic 4",TRUE,FALSE,Active +GARD:9878,Legacy,GARD,,,,,,,,,,,,Colloid cysts of third ventricle,TRUE,FALSE,Active +GARD:9879,Active,Orphanet,ORPHA:2639,Disorder,[Malformation syndrome],Fibular aplasia-complex brachydactyly syndrome,[Du Pan syndrome],A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5).,[228900],,,,,Fibular hypoplasia and complex brachydactyly,TRUE,FALSE,Active +GARD:988,Legacy,GARD,,,,,,,,,,,,Brachymesomelia renal syndrome,TRUE,FALSE,Active +GARD:9882,Active,Orphanet,ORPHA:168588,Disorder,[Malformation syndrome],Hyperandrogenism due to cortisone reductase deficiency,[11-beta-hydroxysteroid dehydrogenase deficiency type 1],"A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.","[614662, 604931]",,,,,Cortisone reductase deficiency,TRUE,FALSE,Active +GARD:9884,Active,Orphanet,ORPHA:86834,Disorder,[Disease],Juvenile myelomonocytic leukemia,"[JMML, Juvenile chronic myelomonocytic leukemia]","A rare myelodysplastic/myeloproliferative neoplasm characterized by a proliferation primarily of granulocytic and monocytic lineages with infiltration of the liver and spleen, among other organs. Blasts and promonocytes account for less than 20% of white blood cells in peripheral blood and bone marrow. Erythroid and megakaryocytic abnormalities are often present. BCR-ABL1 fusion is absent, while somatic mutations in genes of the RAS pathway or monosomy 7 may be found. The condition may also occur in the context of neurofibromatosis type 1 or Noonan syndrome-like disorder. Children of less than three years are predominantly affected, with a clear male preponderance. Most patients present with constitutional symptoms, signs of infection, and hepatosplenomegaly.",[607785],,,,,Juvenile myelomonocytic leukemia,TRUE,FALSE,Active +GARD:9885,Active,Orphanet+OMIM,OMIM:609942,Subtype of disorder,[Malformation syndrome subtype],Noonan syndrome 3,,"Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature (summary by {4:Shah et al., 1999}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950}).",[609942],[648],[Noonan syndrome],[10955],,Noonan syndrome 3,TRUE,FALSE,Active +GARD:9886,Active,Orphanet,ORPHA:88621,Disorder,[Disease],Ichthyosis-prematurity syndrome,"[Congenital ichthyosis type 4, IPS]","A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.",[608649],,,,,Ichthyosis prematurity syndrome,TRUE,FALSE,Active +GARD:9887,Active,Orphanet,ORPHA:251287,Disorder,[Disease],Benign concentric annular macular dystrophy,,Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration.,[153870],,,,,"Macular dystrophy, concentric annular",TRUE,FALSE,Active +GARD:9888,Active,Orphanet,ORPHA:79246,Subtype of disorder,[Clinical subtype],Pyruvate dehydrogenase phosphatase deficiency,[PDH phosphatase deficiency],"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.",[608782],,,,,Pyruvate dehydrogenase phosphatase deficiency,TRUE,FALSE,Active +GARD:989,Legacy,GARD,,,,,,,,,,,,Brachymesophalangy type 2,TRUE,FALSE,Active +GARD:9890,Active,Orphanet,ORPHA:98673,Disorder,[Disease],"Autosomal dominant optic atrophy, classic form","[Autosomal dominant optic atrophy, Kjer type, Kjer optic atrophy, Optic atrophy type 1]","A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects.","[610708, 618977, 605293, 165500]",,,,,Optic atrophy 1,TRUE,FALSE,Active +GARD:9891,Legacy,GARD,,,,,,,,,,,,Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis,TRUE,FALSE,Active +GARD:9892,Active,Orphanet+OMIM,OMIM:610019,Subtype of disorder,[Clinical subtype],Cataract 18,"[Cataract, autosomal recessive congenital 2]","Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital nuclear.\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Autosomal Recessive Congenital 2; CATC2.'",[610019],[98991],[Early-onset nuclear cataract],[16887],,"Cataract, autosomal recessive congenital 2",TRUE,FALSE,Active +GARD:9893,Legacy,GARD,,,,,,,,,,,,"Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia",TRUE,FALSE,Active +GARD:9895,Active,Orphanet+OMIM,OMIM:616313,Subtype of disorder,[Etiological subtype],"Myasthenic syndrome, congenital, 2a, slow-channel",,"Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by {2:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).",[616313],[98913],[Postsynaptic congenital myasthenic syndromes],[15022],,Slow-channel congenital myasthenic syndrome,TRUE,FALSE,Active +GARD:9896,Legacy,GARD,,,,,,,,,,,,"Myopathy, limb-girdle, with bone fragility",TRUE,FALSE,Active +GARD:9897,Legacy,GARD,,,,,,,,,,,,Optic atrophy 1 and deafness,TRUE,FALSE,Retired +GARD:9898,Active,Orphanet,ORPHA:88628,Disorder,[Disease],Posterior column ataxia-retinitis pigmentosa syndrome,"[Autosomal recessive posterior column ataxia and retinitis pigmentosa, PCARP]",Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.,[609033],,,,,Posterior column ataxia with retinitis pigmentosa,TRUE,FALSE,Active +GARD:9899,Legacy,GARD,,,,,,,,,,,,"Hodgkin disease, X-linked pseudoautosomal",TRUE,FALSE,Active +GARD:990,Active,Orphanet,ORPHA:93394,Disorder,[Malformation syndrome],Brachydactyly type A4,"[Brachydactyly, Temtamy type, Brachymesophalangy II and V]","A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.",[112800],,,,,Brachydactyly type A4,TRUE,FALSE,Active +GARD:9900,Active,Orphanet,ORPHA:2414,Disorder,[Disease],Congenital pulmonary lymphangiectasia,[Pulmonary lymphangiomatosis],"A rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.",[265300],,,,,Congenital pulmonary lymphangiectasia,TRUE,FALSE,Active +GARD:9901,Active,Orphanet+OMIM,OMIM:600376,Subtype of disorder,[Disease subtype],"Telangiectasia, hereditary hemorrhagic, type 2",,,[600376],[774],[Hereditary hemorrhagic telangiectasia],[6626],,Hereditary hemorrhagic telangiectasia type 2,TRUE,FALSE,Active +GARD:9902,Active,Orphanet+OMIM,OMIM:601101,Subtype of disorder,[Disease subtype],"Telangiectasia, hereditary hemorrhagic, type 3",,"For a general phenotypic description and a discussion of genetic heterogeneity of HHT, see {187300}.",[601101],[774],[Hereditary hemorrhagic telangiectasia],[6626],,Hereditary hemorrhagic telangiectasia type 3,TRUE,FALSE,Active +GARD:9903,Active,Orphanet,ORPHA:93338,Disorder,[Morphological anomaly],Polysyndactyly,"[PPD4, Preaxial polydactyly type 4]","Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.",[174700],,,,,Preaxial polydactyly type 4,TRUE,FALSE,Active +GARD:9904,Active,Orphanet,ORPHA:75325,Disorder,[Disease],Osteosclerosis-ichthyosis-premature ovarian failure syndrome,[Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome],"A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.",[609993],,,,,Osteosclerosis with ichthyosis and premature ovarian failure,TRUE,FALSE,Active +GARD:9905,Active,Orphanet,ORPHA:144,Disorder,[Disease],Lynch syndrome,,"A rare inherited cancer-predisposing syndrome characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, kidney, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors, depending on the gene involved. Tumors may occur at any age but often arise in young people. Factors influencing individual tumor risk include sex, age, affected gene, and personal history of cancer.","[614337, 120435, 609310, 614331, 614385, 614350, 613244]",,,,,Lynch syndrome,FALSE,FALSE,Active +GARD:9907,Draft,GARD,,Subtype of disorder,[Disease],Amyopathic dermatomyositis,"[ADM, Dermatomyositis sine myositis]","Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair. While patients with Amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included. Fatigue is reported in at least 50% of patients. Some cases have been associated with internal malignancy and/or interstitial lung disease.",,[221],[Dermatomyositis],[6263],,Amyopathic dermatomyositis,TRUE,FALSE,Active +GARD:9908,Legacy,GARD,,,,,,,,,,,,Cryofibrinogenemia,TRUE,FALSE,Active +GARD:9909,Active,Orphanet+OMIM,OMIM:601680,Subtype of disorder,[Malformation syndrome subtype],"Arthrogryposis, distal, type 2b1","[freeman-sheldon syndrome variant, Arthrogryposis multiplex congenita, distal, type 2b, arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities, sheldon-hall syndrome]","Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features ({1:Bamshad et al., 1996}). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by {2:Bamshad et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 ({108120}).",[601680],[1147],[Sheldon-Hall syndrome],[16556],,Sheldon-Hall syndrome,TRUE,FALSE,Active +GARD:9910,Active,Orphanet,ORPHA:158687,Disorder,[Disease],Lethal acantholytic erosive disorder,,"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.",[609638],,,,,"Epidermolysis bullosa, lethal acantholytic",TRUE,FALSE,Active +GARD:9911,Active,Orphanet+OMIM,OMIM:609955,Subtype of disorder,[Malformation syndrome subtype],"Fibromatosis, gingival, 3",,"For phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF ({135300}).",[609955],[2024],[Hereditary gingival fibromatosis],[16582],,"Gingival fibromatosis, 3",TRUE,FALSE,Active +GARD:9912,Active,Orphanet,ORPHA:2382,Disorder,[Disease],Lennox-Gastaut syndrome,,"A rare, severe early-onset developmental epileptic encephalopathy characterized by the triad of intellectual impairment, multiple seizure types, and typical electroencephalography (EEG) abnormalities.","[618141, 617113, 616346, 615369]",,,,,Lennox-Gastaut syndrome,TRUE,FALSE,Active +GARD:9913,Legacy,GARD,,,,,,,,,,,,"Properdin deficiency, X-linked",TRUE,FALSE,Active +GARD:9914,Active,Orphanet+OMIM,OMIM:601894,Subtype of disorder,[Disease subtype],Glomerulopathy with fibronectin deposits 2,"[fibronectin glomerulopathy, Glomerular nephritis, familial, with fibronectin deposits]","Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin ({2:Castelletti et al., 2008}).\n\nFor a discussion of genetic heterogeneity of GFND, see {137950}.",[601894],[84090],[Fibronectin glomerulopathy],[15019],,Glomerulopathy with fibronectin deposits 2,TRUE,FALSE,Active +GARD:9915,Legacy,GARD,,,,,,,,,,,,Leucine-sensitive hypoglycemia of infancy,TRUE,FALSE,Active +GARD:9916,Active,Orphanet+OMIM,OMIM:610017,Subtype of disorder,[Malformation syndrome subtype],Multiple synostoses syndrome 2,,"Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by {2:Dawson et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 ({186500}).",[610017],[3237],[Multiple synostoses syndrome],[3836],,Multiple synostoses syndrome 2,TRUE,FALSE,Active +GARD:9917,Legacy,GARD,,,,,,,,,,,,Immunodeficiency without anhidrotic ectodermal dysplasia,TRUE,FALSE,Active +GARD:9918,Active,Orphanet+OMIM,OMIM:609941,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 51",,,[609941],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,"Deafness, autosomal recessive 51",TRUE,FALSE,Active +GARD:9919,Active,Orphanet+OMIM,OMIM:609952,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 55",,,[609952],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,"Deafness, autosomal recessive 55",TRUE,FALSE,Active +GARD:992,Active,Orphanet,ORPHA:2713,Disorder,[Malformation syndrome],Oculoosteocutaneous syndrome,,"A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968.",[211370],,,,,Brachymetapody anodontia hypotrichosis albinoidism,TRUE,FALSE,Active +GARD:9920,Active,Orphanet,ORPHA:298,Disorder,[Disease],Mitochondrial neurogastrointestinal encephalomyopathy,[MNGIE],"Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.","[613662, 612075, 603041]",,,,,Mitochondrial neurogastrointestinal encephalopathy syndrome,TRUE,FALSE,Active +GARD:9921,Active,Orphanet,ORPHA:2770,Disorder,[Malformation syndrome],Nasu-Hakola disease,"[NHD, PLO-SL, PLOSL, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy]","Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.","[618193, 221770]",,,,,Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy,TRUE,FALSE,Active +GARD:9922,Active,Orphanet+OMIM,OMIM:603553,Subtype of disorder,[Disease subtype],"Hemophagocytic lymphohistiocytosis, familial, 2","[hlh2, Hplh2]","Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; {147570}) and TNF-alpha ({191160}), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by {4:Dufourcq-Lagelouse et al., 1999}, {9:Stepp et al., 1999}, and {8:Molleran Lee et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.",[603553],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,"Hemophagocytic lymphohistiocytosis, familial, 2",TRUE,FALSE,Retired +GARD:9923,Legacy,GARD,,,,,,,,,,,,FG syndrome 2,TRUE,FALSE,Active +GARD:9924,Legacy,GARD,,,,,,,,,,,,FG syndrome 3,TRUE,FALSE,Active +GARD:9925,Legacy,GARD,,,,,,,,,,,,X-linked intellectual disability with or without nystagmus,TRUE,FALSE,Active +GARD:9927,Legacy,GARD,,,,,,,,,,,,Hyperinsulinemic hypoglycemia familial 2,TRUE,FALSE,Active +GARD:9928,Active,Orphanet+OMIM,OMIM:608898,Subtype of disorder,[Disease subtype],"Hemophagocytic lymphohistiocytosis, familial, 3","[hlh3, Hplh3]","Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin ({170280})-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see {267700}.",[608898],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,"Hemophagocytic lymphohistiocytosis, familial, 3",TRUE,FALSE,Retired +GARD:9929,Active,Orphanet+OMIM,OMIM:603552,Subtype of disorder,[Disease subtype],"Hemophagocytic lymphohistiocytosis, familial, 4","[Hplh4, hlh4]","Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R; {147730}). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by {2:Muller et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.",[603552],[540],[Familial hemophagocytic lymphohistiocytosis],[6589],,"Hemophagocytic lymphohistiocytosis, familial, 4",TRUE,FALSE,Retired +GARD:9930,Legacy,GARD,,,,,,,,,,,,Hyperinsulinemic hypoglycemia familial 3,TRUE,FALSE,Active +GARD:9931,Active,Orphanet,ORPHA:35878,Disorder,[Disease],Hyperinsulinism-hyperammonemia syndrome,[HI/HA syndrome],"Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.",[606762],,,,,Hyperinsulinism-hyperammonemia syndrome,TRUE,FALSE,Active +GARD:9932,Active,Orphanet,ORPHA:165991,Disorder,[Disease],Exercise-induced hyperinsulinism,"[EIHI, Exercise-induced hyperinsulinemic hypoglycemia, Hyperinsulinism due to SLC16A1 deficiency, Hyperinsulinism due to monocarboxylate transporter 1 deficiency]","A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide.",[610021],,,,,Exercise-induced hyperinsulinemic hypoglycemia,TRUE,FALSE,Active +GARD:9933,Active,Orphanet+OMIM,OMIM:601544,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 3a",,,[601544],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 3",TRUE,FALSE,Active +GARD:9934,Active,Orphanet+OMIM,OMIM:609965,Subtype of disorder,[Etiological subtype],"Deafness, autosomal dominant 53",,,[609965],[90635],[Autosomal dominant non-syndromic sensorineural deafness type DFNA],[16791],,"Deafness, autosomal dominant nonsyndromic sensorineural 53",TRUE,FALSE,Active +GARD:9935,Active,Orphanet+OMIM,OMIM:609946,Subtype of disorder,[Etiological subtype],"Deafness, autosomal recessive 47",,,[609946],[90636],[Autosomal recessive non-syndromic sensorineural deafness type DFNB],[18644],,"Deafness, neurosensory, autosomal recessive 47",TRUE,FALSE,Active +GARD:9936,Active,Orphanet,ORPHA:98813,Disorder,[Disease],Hypohidrotic ectodermal dysplasia with immunodeficiency,"[Anhidrotic ectodermal dysplasia with immunodeficiency, EDA-ID, HED-ID]","A rare ectodermal dysplasia syndrome characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.","[300291, 612132]",,,,,Hypohidrotic ectodermal dysplasia with immune deficiency,TRUE,FALSE,Active +GARD:9937,Active,Orphanet+OMIM,OMIM:608908,Subtype of disorder,[Disease subtype],Myopia 6,,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}.",[608908],[98619],[Rare isolated myopia],[16859],,Myopia 6,TRUE,FALSE,Active +GARD:9939,Legacy,GARD,,,,,,,,,,,,"Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features",TRUE,FALSE,Active +GARD:994,Active,Orphanet,ORPHA:263482,Disorder,[Disease],"Spondyloepiphyseal dysplasia, Maroteaux type",[Pseudo-Morquio syndrome type 2],"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.",[184095],,,,,Spondyloepiphyseal dysplasia Maroteaux type,TRUE,FALSE,Active +GARD:9940,Active,Orphanet,ORPHA:66631,Disorder,[Disease],CEDNIK syndrome,[Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome],"A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.",[609528],,,,,"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome",TRUE,FALSE,Active +GARD:9941,Active,Orphanet,ORPHA:269,Disorder,[Disease],Facioscapulohumeral dystrophy,"[FSH dystrophy, FSHD, Facioscapulohumeral muscular dystrophy, Facioscapulohumeral myopathy, Landouzy-Dejerine dystrophy, Landouzy-Dejerine myopathy]","A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.","[158900, 600416, 158901]",,,,,Facioscapulohumeral muscular dystrophy,TRUE,FALSE,Active +GARD:9942,Legacy,GARD,,,,,,,,,,,,"Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands",TRUE,FALSE,Active +GARD:9943,Active,Orphanet+OMIM,OMIM:301200,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, type ie","[Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1, amelogenesis imperfecta, hypomaturation type, with snow-capped teeth, enamel hypoplasia, x-linked, amelogenesis imperfecta, x-linked 1]","Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms ({22:Witkop, 1988}).",[301200],[100033],[Hypomaturation amelogenesis imperfecta],[8349],,Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1,TRUE,FALSE,Active +GARD:9944,Active,Orphanet+OMIM,OMIM:301201,Subtype of disorder,[Clinical subtype],"Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2",,"For a description of hypoplastic/hypomaturation amelogenesis imperfecta, see {301200}.",[301201],[100031],[Hypoplastic amelogenesis imperfecta],[645],,"Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2",TRUE,FALSE,Active +GARD:9945,Legacy,GARD,,,,,,,,,,,,"Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features",TRUE,FALSE,Retired +GARD:9946,Legacy,GARD,,,,,,,,,,,,"Arthrogryposis multiplex with deafness, inguinal hernias, and early death",TRUE,FALSE,Active +GARD:9947,Active,Orphanet,ORPHA:137831,Disorder,[Disease],X-linked intellectual disability-cerebellar hypoplasia syndrome,"[OPHN1 syndrome, Oligophrenin-1 syndrome]","X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.",[300486],,,,,Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance,TRUE,FALSE,Retired +GARD:9948,Legacy,GARD,,,,,,,,,,,,Beriberi,TRUE,FALSE,Active +GARD:9949,Legacy,GARD,,,,,,,,,,,,Citrulline transport defect,TRUE,FALSE,Active +GARD:995,Active,Orphanet+OMIM,OMIM:271530,Subtype of disorder,[Malformation syndrome subtype],"Brachyolmia type 1, hobaek type","[Brachyolmia, recessive type of hobaek, spondylodysplasia with pure brachyolmia]","{9:Rock et al. (2008)} provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (BCYM1B; {271630}) forms, which are inherited in an autosomal recessive fashion. Both forms of type 1 are characterized by scoliosis, platyspondyly with rectangular and elongated vertebral bodies, overfaced pedicles, and irregular, narrow intervertebral spaces. The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Type 2 brachyolmia (BCYM2; {613678}), sometimes referred to as the Maroteaux type, is also an autosomal recessive disorder, primarily distinguished from type 1 by rounded vertebral bodies and less overfaced pedicles. Some cases are associated with precocious calcification of the falx cerebri. Type 3 brachyolmia (BCYM3; {113500}) is an autosomal dominant form, caused by mutation in the TRPV4 gene ({605427}), with severe kyphoscoliosis and flattened, irregular cervical vertebrae. Paradoxically, although the limbs are mildly shortened in all types of brachyolmia, they show minimal epiphyseal and metaphyseal abnormalities on radiographs. Type 4 brachyolmia (BCYM4; {612847}) is an autosomal recessive form, caused by mutation in the PAPSS2 gene ({603005}), with mild epiphyseal and metaphyseal changes.",[271530],[448242],[Autosomal recessive brachyolmia],[13171],,Brachyolmia type 1 Hobaek type,TRUE,FALSE,Retired +GARD:9950,Active,Orphanet,ORPHA:101108,Disorder,[Disease],Spinocerebellar ataxia type 23,[SCA23],"Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.",[610245],,,,,Spinocerebellar ataxia 23,TRUE,FALSE,Active +GARD:9951,Active,Orphanet,ORPHA:101109,Disorder,[Disease],Spinocerebellar ataxia type 28,[SCA28],"Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.",[610246],,,,,Spinocerebellar ataxia 28,TRUE,FALSE,Active +GARD:9952,Active,Orphanet,ORPHA:83461,Disorder,[Malformation syndrome],Congenital primary aphakia,,A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects.,[610256],,,,,Congenital primary aphakia,TRUE,FALSE,Active +GARD:9953,Active,Orphanet,ORPHA:251627,Disorder,[Disease],Oligodendroglioma,,"A rare glial tumor characterized by a highly cellular lesion that is diffusly infiltrating at the periphery and consists of evenly-spaced monomorphic cells with the oligodendroglial phenotype. It typically occurs in the supratentorial white matter. Histologically, the cells are uniformly round to oval with round nuclei, delicate chromatin and small nucleoli. Most patients present with seizures.","[137800, 616568]",,,,,Oligodendroglioma,TRUE,FALSE,Active +GARD:9956,Legacy,GARD,,,,,,,,,,,,Hutterite cerebroosteonephrodysplasia syndrome,TRUE,FALSE,Active +GARD:9957,Legacy,GARD,,,,,,,,,,,,"Hypodontia, X-linked",TRUE,FALSE,Active +GARD:9958,Legacy,GARD,,,,,,,,,,,,Tiglic acidemia,TRUE,FALSE,Active +GARD:9959,Active,Orphanet,ORPHA:83476,Disorder,[Disease],West-Nile encephalitis,[West-Nile fever],"An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.",[610379],,,,,West Nile virus encephalitis,TRUE,FALSE,Active +GARD:9960,Legacy,GARD,,,,,,,,,,,,Superficial spreading melanoma,TRUE,FALSE,Active +GARD:9961,Legacy,GARD,,,,,,,,,,,,Nodular melanoma,TRUE,FALSE,Active +GARD:9962,Legacy,GARD,,,,,,,,,,,,Lentigo maligna melanoma,TRUE,FALSE,Active +GARD:9963,Active,Orphanet,ORPHA:98764,Disorder,[Disease],Spinocerebellar ataxia type 27,[SCA27],"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.",[609307],,,,,Spinocerebellar ataxia 27,TRUE,FALSE,Active +GARD:9964,Active,Orphanet,ORPHA:97234,Disorder,[Disease],Glycogen storage disease due to phosphoglycerate mutase deficiency,"[GSD due to phosphoglycerate mutase deficiency, GSD type 10, Glycogenosis due to phosphoglycerate mutase deficiency, Muscle phosphoglycerate mutase deficiency, Myopathy due to phosphoglycerate mutase deficiency]","Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria. Less than 50 cases have been described so far. The disease is due to an anomaly in one of the last steps of glycolysis. The enzymatic defect in PGAMD is caused by mutations in the cDNA coding for the M-isoform of PGAM. Residual PGAM activity in the muscles of patients (2%-6%) is due to activity of the B-isoform. Transmission is autosomal recessive. Differential diagnosis includes muscle phosphorylase deficiency (McArdle disease) and phosphofructokinase deficiency (PFKD) (see these terms).",[261670],,,,,Phosphoglycerate mutase deficiency,TRUE,FALSE,Active +GARD:9965,Active,Orphanet,ORPHA:83639,Disorder,[Disease],Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,"[Congenital disorder of glycosylation due to PIGM deficiency, PIGM-CDG]","A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.",[610293],,,,,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,TRUE,FALSE,Active +GARD:9966,Active,Orphanet+OMIM,OMIM:604356,Subtype of disorder,[Malformation syndrome subtype],Duane retraction syndrome 2,,"Duane retraction syndrome (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by {7:Miyake et al., 2010}).\n\nFor a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 ({126800}).",[604356],[233],[Duane retraction syndrome],[6288],,Duane syndrome type 2,TRUE,FALSE,Retired +GARD:9967,Legacy,GARD,,,,,,,,,,,,Sertoli-leydig cell tumors,TRUE,FALSE,Active +GARD:9968,Legacy,GARD,,,,,,,,,,,,"Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa",TRUE,FALSE,Active +GARD:9969,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia 19,TRUE,FALSE,Retired +GARD:9970,Active,Orphanet,ORPHA:98765,Disorder,[Disease],Spinocerebellar ataxia type 4,[SCA4],Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.,[600223],,,,,Spinocerebellar ataxia 4,TRUE,FALSE,Active +GARD:9971,Active,Orphanet,ORPHA:95433,Disorder,[Disease],Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,"[Autosomal recessive spinocerebellar ataxia type 3, Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome, SCABD, SCAR3]",A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.,[271250],,,,,Spinocerebellar ataxia autosomal recessive 3,TRUE,FALSE,Active +GARD:9972,Legacy,GARD,,,,,,,,,,,,Congenital absence of the sternocleidomastoid muscle,TRUE,FALSE,Active +GARD:9973,Legacy,GARD,,,,,,,,,,,,Splenic infarcts,TRUE,FALSE,Active +GARD:9974,Legacy,GARD,,,,,,,,,,,,Angiosarcoma of the breast,TRUE,FALSE,Active +GARD:9975,Active,Orphanet,ORPHA:217012,Disorder,[Disease],Spinocerebellar ataxia type 31,[SCA31],"An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.",[117210],,,,,Spinocerebellar ataxia 31,TRUE,FALSE,Active +GARD:9976,Active,Orphanet,ORPHA:98771,Disorder,[Disease],Spinocerebellar ataxia type 18,[SCA18],Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.,[607458],,,,,Spinocerebellar ataxia 18,TRUE,FALSE,Active +GARD:9977,Active,Orphanet,ORPHA:83472,Disorder,[Malformation syndrome],CAMOS syndrome,"[Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome, SCAR5]","A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.",,,,,,Spinocerebellar ataxia autosomal recessive 5,TRUE,FALSE,Active +GARD:9978,Legacy,GARD,,,,,,,,,,,,Spinocerebellar ataxia X-linked type 2,TRUE,FALSE,Active +GARD:9979,Legacy,GARD,,,,,,,,,,,,Megarbane syndrome,TRUE,FALSE,Active +GARD:998,Active,Orphanet,ORPHA:1538,Disorder,[Malformation syndrome],Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,[Braddock-Jones-Superneau syndrome],"A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.",[123155],,,,,Braddock Jones Superneau syndrome,TRUE,FALSE,Active +GARD:9980,Active,Orphanet,ORPHA:85292,Disorder,[Disease],X-linked spinocerebellar ataxia type 4,"[SCAX4, X-linked ataxia-dementia syndrome]","Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.",[301840],,,,,Spinocerebellar ataxia X-linked type 4,TRUE,FALSE,Active +GARD:9981,Active,Orphanet,ORPHA:85297,Disorder,[Malformation syndrome],X-linked spinocerebellar ataxia type 3,"[SCAX3, X-linked ataxia-deafness syndrome, X-linked ataxia-hearing loss syndrome]","X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.",[301790],,,,,Spinocerebellar ataxia X-linked type 3,TRUE,FALSE,Active +GARD:9983,Active,Orphanet+OMIM,OMIM:604537,Subtype of disorder,[Disease subtype],Leber congenital amaurosis 5,,,[604537],[65],[Leber congenital amaurosis],[634],,Leber congenital amaurosis 5,TRUE,FALSE,Active +GARD:9984,Active,Orphanet,ORPHA:85283,Disorder,[Malformation syndrome],"X-linked intellectual disability, Miles-Carpenter type",,"X-linked mental retardation, Miles-Carpenter type is characterised by severe intellectual deficit, microcephaly, exotropia and low digital arches.",[314580],,,,,Miles-Carpenter x-linked mental retardation syndrome,TRUE,FALSE,Retired +GARD:9985,Legacy,GARD,,,,,,,,,,,,Jejunal atresia with renal adysplasia,TRUE,FALSE,Active +GARD:9986,Legacy,GARD,,,,,,,,,,,,"Severe combined immunodeficiency, atypical",TRUE,FALSE,Active +GARD:9987,Active,Orphanet,ORPHA:275,Disorder,[Disease],Severe combined immunodeficiency due to DCLRE1C deficiency,"[SCID due to ARTEMIS deficiency, SCID due to DCLRE1C deficiency, SCID, Athabascan type, SCID, Athabaskan type, Severe combined immunodeficiency due to ARTEMIS deficiency, Severe combined immunodeficiency, Athabascan type, Severe combined immunodeficiency, Athabaskan type]","Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.",[602450],,,,,Severe combined immunodeficiency with sensitivity to ionizing radiation,TRUE,FALSE,Active +GARD:9989,Active,Orphanet,ORPHA:90154,Subtype of disorder,[Clinical subtype],Mandibuloacral dysplasia with type B lipodystrophy,,,[608612],,,,,Mandibuloacral dysplasia with type B lipodystrophy,TRUE,FALSE,Active +GARD:9990,Legacy,GARD,,,,,,,,,,,,"Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules",TRUE,FALSE,Active +GARD:9991,Active,Orphanet,ORPHA:75496,Subtype of disorder,[Clinical subtype],B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,"[B4GALT7-related spondylodysplastic EDS, EDS progeroid type 1, EDS with short stature and limb anomalies, spEDS-B4GALT7]","A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities.","[130070, 615349]",,,,,Spondylodysplastic Ehlers-Danlos syndrome,TRUE,FALSE,Active +GARD:9992,Legacy,GARD,,,,,,,,,,,,Midphalangeal hair,TRUE,FALSE,Active +GARD:9993,Active,Orphanet,ORPHA:97229,Disorder,[Malformation syndrome],Riboflavin transporter deficiency,[Brown-Vialetto-van Laere syndrome],"A rare, genetic motor neuron disease characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished.","[211500, 211530, 614707]",,,,,Riboflavin transporter deficiency,TRUE,FALSE,Active +GARD:9994,Active,Orphanet,ORPHA:600731,Disorder,[Malformation syndrome],Clark-Baraitser syndrome,,,[617752],,,,,Clark-Baraitser syndrome,TRUE,FALSE,Active +GARD:9995,Active,Orphanet,ORPHA:101112,Disorder,[Disease],Spinocerebellar ataxia type 26,[SCA26],A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.,[609306],,,,,Spinocerebellar ataxia 26,TRUE,FALSE,Active +GARD:9996,Active,Orphanet,ORPHA:101111,Disorder,[Disease],Spinocerebellar ataxia type 25,[SCA25],Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.,[608703],,,,,Spinocerebellar ataxia 25,TRUE,FALSE,Active +GARD:9997,Active,Orphanet,ORPHA:101110,Disorder,[Disease],Spinocerebellar ataxia type 20,[SCA20],Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.,[608687],,,,,Spinocerebellar ataxia 20,TRUE,FALSE,Active +GARD:9998,Active,Orphanet,ORPHA:70595,Disorder,[Disease],Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,[SANDO],"A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.",[607459],,,,,"Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",TRUE,FALSE,Active +GARD:9999,Active,Orphanet,ORPHA:98773,Disorder,[Disease],Spinocerebellar ataxia type 21,[SCA21],"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.",[607454],,,,,Spinocerebellar ataxia 21,TRUE,FALSE,Active diff --git a/RDAS_GFKG/OrphanMap/J_OMIM-.csv b/RDAS_GFKG/OrphanMap/J_OMIM-.csv new file mode 100644 index 0000000..b82c18b --- /dev/null +++ b/RDAS_GFKG/OrphanMap/J_OMIM-.csv @@ -0,0 +1,6808 @@ +OMIM,Description +100050,"Aarskog syndrome is characterized by short stature and facial, limb, and genital anomalies. One form of the disorder is X-linked (see {305400}), but there is also evidence for autosomal dominant and autosomal recessive ({227330}) inheritance (summary by {1:Grier et al., 1983})." +100070,"Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by {16:Kuivaniemi et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Abdominal Aortic Aneurysm\n\nMapped loci for abdominal aortic aneurysm include AAA1 on chromosome 19q13; AAA2 ({609782}) on chromosome 4q31; AAA3 ({611891}) on chromosome 9p21; and AAA4 ({614375}) on chromosome 12q13." +100100,"In its rare complete form, 'prune belly' syndrome comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by {24:Weber et al., 2011})." +100200,"This is a form of hereditary strabismus. Affected persons in 2 or more generations have been reported ({1:Chavasse, 1938}; {2:Francois, 1961}). Nuclear aplasia has been found in some cases ({3:Phillips et al., 1932}). Abducens palsy also occurs as part of the Moebius syndrome ({157900})." +100300,"Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by {34:Stittrich et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Adams-Oliver Syndrome\n\nOther autosomal dominant forms of Adams-Oliver syndrome include AOS3 ({614814}), caused by mutation in the RBPJ gene ({147183}) on chromosome 4p15; AOS5 ({616028}), caused by mutation in the NOTCH1 gene ({190198}) on chromosome 9q34; and AOS6 ({616589}), caused by mutation in the DLL4 gene ({605185}) on chromosome 15q15.1.\n\nAutosomal recessive forms of Adams-Oliver syndrome include AOS2 ({614219}), caused by mutation in the DOCK6 gene ({614194}) on chromosome 19p13, and AOS4 ({615297}), caused by mutation in the EOGT gene ({614789}) on chromosome 3p14." +100650,Acetaldehyde dehydrogenase ({EC 1.2.1.3}) is the next enzyme after alcohol dehydrogenase (see {103700}) in the major pathway of alcohol metabolism. There are 2 major ALDH isozymes in the liver: cytosolic ALDH1 (ALDH1A1; {100640}) and mitochondrial ALDH2. +100675,"Acetaminophen (paracetamol) is extensively conjugated with glucuronic acid and sulfate before renal excretion. A minor metabolic route involves microsomal oxidation of acetaminophen to a hepatotoxic reactive intermediate, which subsequently undergoes glutathione (GSH) conjugation, yielding cysteine and mercapturate conjugates, both of which are excreted in the urine ({3:Slattery et al., 1987})." +100700,"Arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet are features. When {4:Thursfield (1917-18)} reviewed the literature on Marfan syndrome, he remarked that the skeletal picture in the cases described by {1:Achard (1902)} differed in that the skull was broad and brachycephalic with small mandible; although there was arachnodactyly, the body proportions were not altered and the patient was not excessively tall. {2:Parish (1960)} pictured a case. It is not clear what this condition represented or even that it is a distinct entity." +100800,"Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by {7:Bellus et al., 1995})." +101000,"The central or type II form of neurofibromatosis (NF2) is an autosomal dominant multiple neoplasia syndrome characterized by tumors of the eighth cranial nerve (usually bilateral), meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord. The incidence of neurofibromatosis type II is 1 in 25,000 live births ({2:Asthagiri et al., 2009}). NF2 has few of the hallmarks of the peripheral or type I form of neurofibromatosis (NF1; {162200}), also known as von Recklinghausen disease.\n\n{2:Asthagiri et al. (2009)} provided a detailed review of neurofibromatosis type II." +101120,"This designation may be appropriate for the malformation syndrome described by {1:Sakati et al. (1971)} in a single male. The calvaria was large and the face disproportionately small. All cranial sutures were fused. The ears were dysplastic and low-set. Maxillary hypoplasia, dental crowding, prognathism and short neck with low hairline were features. A sixth digit had been removed from the right hand. The feet were adducted and showed polysyndactyly with 7 toes on the right and 6 toes on the left. The tibias were hypoplastic and the fibulas were deformed and displaced. The chromosomes were normal. Advanced parental age supported new dominant mutation as the cause. No other cases have, it seems, been reported." +101200,"Apert syndrome is a congenital disorder characterized primarily by craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet with a tendency to fusion of bony structures. Most cases are sporadic, but autosomal dominant inheritance has been reported ({28:Mantilla-Capacho et al., 2005}).\n\n{12:Cohen (1973)} provided a review of all the 'craniosynostosis syndromes.'" +101400,"Saethre-Chotzen syndrome is characterized by craniosynostosis, facial dysmorphism, and hand and foot abnormalities. Coronal synostosis resulting in brachycephaly is the most frequent cranial abnormality observed, and the most common facial features are asymmetry, hypertelorism, and maxillary hypoplasia. Other features include high forehead, low frontal hairline, late-closing fontanel, strabismus, ptosis, lacrimal duct stenosis, deviated nasal septum, small low-set posteriorly rotated ears with prominent crus, and hearing loss. The limb anomalies consist of radioulnar synostosis, brachydactyly, cutaneous syndactyly, and hallux valgus. Patients also exhibit short stature and vertebral fusion, and mild to moderate mental retardation has been noted in some cases. Inter- and intrafamilial variability is significant, with some patients having fusion of other sutures, or no apparent craniosynostosis but abnormal skull morphology. The degree of syndactyly is also variable, and digital abnormalities can be absent ({16:Jabs, 2008})." +101600,"Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 ({4:Cohen, 1993}). {3:Cohen and Barone (1994)} further tabulated the findings in the 3 types of Pfeiffer syndrome." +101800,"Acrodysostosis-1 (ACRDYS1) is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by {8:Linglart et al., 2011}). However, not all patients show endocrine abnormalities ({7:Lee et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Acrodysostosis\n\nSee also ACRDYS2 ({614613}), caused by mutation in the PDE4D gene ({600129}) on chromosome 5q12." +101805,"The Catania type of acrofacial dysostosis is characterized by intrauterine growth retardation, short stature, microcephaly, intellectual disability, widow's peak, mandibulofacial dysostosis without cleft palate, ear anomalies, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, dental anomalies, and cryptorchidism and hypospadias in males ({2:Opitz et al., 1993}; {3:Wulfsberg et al., 1996})." +101900,"Acrokeratosis verruciformis of Hopf (AKV) is a localized disorder of keratinization affecting the distal extremities. Onset occurs early in life ({1:Dhitavat et al., 2003})." +102200,"Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.\n\nPituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone ({139250})-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin ({176760})-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB; {188540})-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth ({34:Vierimaa et al., 2006}; {12:Georgitsi et al., 2007}; {13:Horvath and Stratakis, 2008}).\n\nAcromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities ({34:Vierimaa et al., 2006}). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease ({10:Gadelha et al., 1999}; {13:Horvath and Stratakis, 2008}).\n\nCushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by {24:Perez-Rivas et al., 2015}).\n\nFamilial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP ({32:Toledo et al., 2007}).\n\n{27:Schlechte (2003)} discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem.\n\n<Subhead> Genetic Heterogeneity of Pituitary Adenomas\n\nAlso see pituitary adenoma-2 (PITA2; {300943}), caused by mutation in the GPR101 gene ({300393}); pituitary adenoma-3 (PITA3; {617686}), caused by somatic activating mutations in the GNAS1 gene ({139320}); pituitary adenoma-4 (PITA4; {219090}), caused by somatic mutation in the USP8 gene ({603158}); and pituitary adenoma-5 (PITA5; {617540}), caused by mutation in the CDH23 gene ({605516}).\n\nPatients with the chromosome Xq26.3 microduplication syndrome ({300942}) have growth hormone-secreting adenomas.\n\nFamilial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1; {131100}), Carney complex (CNC1; {160980}), and the McCune-Albright syndrome ({174800}).\n\n{26:Rostomyan et al. (2015)} performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG; {300942}) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. {26:Rostomyan et al. (2015)} noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates." +102300,"Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation ({5:Bonati et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Restless Legs Syndrome\n\nRLS1 has been mapped to chromosome 12q. Other susceptibility loci for RLS include RLS2 ({608831}) on chromosome 14q13-q31; RLS3 ({610438}) on chromosome 9p24-p22; RLS4 ({610439}) on chromosome 2q33; RLS5 ({611242}) on chromosome 20p13; RLS6 ({611185}) on chromosome 6p21; RLS7 ({612853}) on chromosome 2p14; and RLS8 ({615197}) on chromosome 5q31." +102350,"Acromial dimples are skin depressions overlying the acromial process of the scapula. They are thought to arise from the entrapment of tissue between a bony structure and the uterine wall. The skin and bone become compressed and tethering results when the pressure is released. They are usually bilateral and are an isolated finding warranting no further investigation (summary by {6:Liu and Nanan, 2008}).\n\nAcromial dimples occur as a virtually consistent feature of 18q deletion ({5:Insley, 1967})." +102370,"Acromicric dysplasia is an autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal (summary by {2:Le Goff et al., 2011}).\n\nAllelic disorders with overlapping skeletal and joint features include geleophysic dysplasia-2 (GPHYSD2; {614185}) and the autosomal dominant form of Weill-Marchesani syndrome ({608328})." +102500,"Hajdu-Cheney syndrome (HJCYS) is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by {26:Ramos et al., 1998}; {29:Simpson et al., 2011}; {17:Isidor et al., 2011})." +102510,"Acropectorovertebral dysgenesis, or F syndrome, is an autosomal dominant skeletal dysplasia characterized by carpal and tarsal synostoses, syndactyly between the first and second fingers, hypodactyly and polydactyly of feet, and abnormalities of the sternum and spine (summary by {3:Thiele et al., 2004})." +102520,"{2:Dieker and Opitz (1969)} described 3 patients with the association of major malformations of the kidneys and limbs, mainly absence deformities of digits. {1:Curran and Curran (1972)} described a case and pointed out that paternal age was sometimes increased (44 years in their case and 57 years in one of Dieker and Opitz). All cases have been male and sporadic, without parental consanguinity. {4:Opitz (1982)} pointed out that this is not, to use his terminology, a causal entity, but rather a nonspecific developmental field defect.\n\n{5:Scheuerman et al. (2003)} stated that previously described anomalies in acrorenal syndrome included unilateral renal agenesis, duplication of the collecting system, renal hypoplasia leading to renal insufficiency, and vesicoureteral reflux with hydronephrosis. They described 2 patients with what they believed to be a new variant of acrorenal field defect. Both patients had horseshoe kidney, which the authors stated had not previously been described with acrorenal field defect. One of the patients had preaxial polydactyly of the right hand. The other had left hand ectrodactyly.\n\n{3:Kroes et al. (2004)} reviewed 95 reported cases of limb deficiency and a renal or urinary tract anomaly with no diagnosis or recognized phenotype and found that the data suggested an association between limb deficiencies and renal anomalies, possibly explained by the concept of the acrorenal polytopic developmental field defect. {3:Kroes et al. (2004)} concluded, however, that the data did not yield evidence for the existence of a distinct syndrome, defined as a pattern of causally related multiple anomalies, and that use of the term 'acrorenal syndrome' should be avoided." +102530,"Spermatogenic failure-6 (SPGF6) is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects ({9:Lalonde et al., 1988}, {11:Singh, 1992}). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon ({1:Battaglia et al., 1997}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +102578,"The PML tumor suppressor protein is essential for the formation of a dynamic macromolecular nuclear structure called the PML-nuclear body (PML-NB). PML-NBs have also been referred to as nuclear domains-10, Kremer bodies, and PML oncogenic domains. Unlike more specialized subnuclear structures, PML-NBs are involved in diverse cellular functions, including sequestration and release of proteins, mediation of posttranslational modifications, and promotion of nuclear events in response to various cellular stresses. The PML gene is involved in the t(15;17) translocation of acute promyelocytic leukemia (APL; {612376}), which generates the oncogenic fusion protein PML-retinoic acid receptor-alpha (RARA; {180240}). PML-NBs are disrupted in APL and are thus implicated in APL pathogenesis ({4:Bernardi and Pandolfi, 2007}; {31:Salomoni et al., 2008})." +102650,{1:Graham et al. (1986)} described adult female twins with unilateral terminal transverse defects affecting the left hand in one and the right hand in the other. The latter woman had a daughter with a unilateral transverse defect affecting the left hand. The hand anomaly was characterized by absence of the terminal portions of digits 2 to 5 with a mildly hypoplastic thumb. Tiny nail remnants were evident on the digital stumps. No soft tissue syndactyly was present. The other hand and both feet were clinically and radiologically normal in each of the 3 persons. No other similar families were found in the literature. +102660,"Adamantinoma of the long bones is a rare, low-grade malignant neoplasm of unknown histogenesis, which affects mainly the tibia of young adults ({1:Keeney et al., 1989}). {2:Sozzi et al. (1990)} demonstrated a translocation t(7;13)(q32;q14) in a lung metastasis from an adamantinoma of the tibia in a boy who showed the same translocation constitutionally (in normal fibroblasts and lymphoid cells). The identical translocation was found in his normal father. The breakpoint in chromosome 13 was in the same region as that in retinoblastoma ({180200}). The level of esterase D was normal in the patient and his parents." +102699,"{3:Kotin et al. (1990)} isolated cellular sequences flanking integrated copies of the adeno-associated virus (AAV) genome from a latently infected clonal human cell line and used them to probe genomic blots derived from an additional 21 independently derived clones of human cells latently infected with AAV. In genomic blots of uninfected human cell lines and of primary human tissue, each flanking-sequence probe hybridized to unique bands. {3:Kotin et al. (1990)} concluded that the AAV genome preferentially integrates into a specific region of the cellular genome. By somatic cell hybrid mapping, they determined that the integration site is unique to chromosome 19. The human parvovirus AAV is unique among eukaryotic DNA viruses in its ability to integrate site specifically. By means of in situ hybridization, {2:Kotin et al. (1991)} mapped the integration site to 19q13-qter.\n\n{4:Samulski et al. (1991)} mapped the AAVS1 sequence to 19q13.4-qter by in situ hybridization of AAV DNA to chromosomes from latently infected cells. The findings suggested that this nonpathogenic parvovirus establishes viral latency by integrating its DNA specifically into 1 chromosomal region. Such specific integration was considered unique among the eukaryotic DNA viruses. The incorporation of site-specific integration into AAV vector schemes should make this vector system attractive for human gene therapy strategies.\n\nBy analysis of the proviral junctions, {1:Kotin et al. (1992)} determined that integration of the AAV DNA occurred via a nonhomologous recombination pathway. Direct repeats at a much greater than random occurrence were found distributed nonuniformly throughout the AAVS1 sequence." +102700,"Severe combined immunodeficiency (SCID) resulting from inherited ADA deficiency causes a variable phenotypic spectrum, the most severe being SCID presenting in infancy and usually resulting in early death. Ten to 15% of patients have a 'delayed' clinical onset by age 6 to 24 months, and a smaller percentage of patients have 'later' onset, diagnosed from ages 4 years to adulthood, showing less severe infections and gradual immunologic deterioration. Finally, 'partial' ADA deficiency occurs in a subset of immunocompetent individuals who show decreased enzyme activity in erythrocytes, but retain substantial enzyme activity ranging from 5 to 80% of normal in leukocytes and other nucleated cells (summary by {9:Arredondo-Vega et al., 1994}). ADA deficiency accounts for approximately 15% of all SCID cases and one-third of cases of autosomal recessive SCID ({39:Hershfield, 2003})." +102900,"Elevation of red cell ATP levels is accompanied by elevated red cell pyruvate kinase activity and mild erythrocytosis. Red cell life span is slightly shortened. The patients in whom this trait was first described were asymptomatic (summary by {1:Beutler et al., 1997})." +103050,"Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. ADSL deficiency leads to the accumulation of toxic intermediates, including succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr) in body fluids. There are 3 major phenotypic forms of the disorder that correlate with different values of the S-Ado and SAICAr concentration ratios (S-Ado/SAICAr) in the cerebrospinal fluid. These include the most severe fatal neonatal encephalopathy (S-Ado/SAICAr ratio less than 1); childhood form (type I) with severe psychomotor retardation (S-Ado/SAICAr ratio close to 1), and a milder form (type II) with psychomotor retardation or hypotonia (S-Ado/SAICAr ratio greater than 2) (summary by {1:Baresova et al., 2012})." +103100,"Adie pupil is a pupillary dysfunction characterized by a poor pupillary light reaction, reduced accommodation, sector palsies of the iris, and enhanced pupillary response to near effort (i.e., attempting to focus on a near object) (summary by {8:Triggs et al., 2006})." +103200,"Adiposis dolorosa, also known as Dercum disease, is characterized by generalized obesity and pronounced, disabling, and chronic pain in the adipose tissue of the proximal extremities, trunk, pelvic area, and buttocks; the face and hands are usually spared. There are a number of associated symptoms, including multiple lipomas, generalized weakness, fatigue, sleep disturbances, constipation, and psychiatric abnormalities. It is 5 to 30 times more common in women than men, and usually presents between 35 and 50 years of age (summary by {1:Campen et al., 2001}; review by {4:Hansson et al., 2012}).\n\nBased on a review of the literature and studies of 111 patients, {4:Hansson et al. (2012)} proposed a classification of Dercum disease into 4 types: (I) generalized diffuse form without clear lipomas, (II) generalized nodular form with multiple lipomas, (III) localized nodular form, and (IV) juxtaarticular form with solitary fatty deposits near joints." +103230,"{1:Chuandi et al. (1985)} reported a Chinese kindred in which persons in 3 generations, and by implication at least 1 person in a fourth earlier generation, had chronic adrenal insufficiency. This was manifest by hyperpigmentation, hypernatriuria, hypokaliuria, and decreased plasma total cortisol and urine free cortisol; PTC, UFC and 17-OHCS did not respond to ACTH stimulation. Eleven affected persons in 5 sibships were identified, including several instances of male-to-male transmission." +103285,"ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome is characterized by ectrodactyly, syndactyly, fingernail and toenail dysplasia, hypoplasia of the breast and nipple, excessive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and/or early loss of permanent teeth (summary by {6:Reisler et al., 2006})." +103300,"Hypoglossia-hypodactyly syndrome is characterized by a hypoplastic mandible, absence of the lower incisors, hypoglossia, and a variable degree of absence of the digits and limbs. Intelligence is normal ({8:Hall, 1971}).\n\n{8:Hall (1971)} classified what he termed the 'syndromes of oromandibular and limb hypogenesis,' which comprised a range of disorders with hypoglossia in common. Type I included hypoglossia and aglossia in isolation. Type II included hypoglossia with hypomelia/hypodactylia. Type III included glossopalatine ankylosis with hypoglossia or hypoglossia and hypomelia/hypodactyly. Type IV included intraoral bands with fusion with hypoglossia or hypoglossia and hypomelia/hypodactyly. Type V included several syndromes, such as Hanhart syndrome, Pierre Robin syndrome ({261800}), Moebius syndrome ({157900}), and amniotic band syndrome ({217100}). {8:Hall (1971)} noted that complete aglossia or adactylia had not been reported, and suggested that 'hypoglossia-hypodactylia' is a more accurate term.\n\nSee also hypoglossia and situs inversus ({612776})." +103400,"A narrow strip of hardened skin, a constricting ring, forms on the little toe at the level of the digitoplantar fold and progresses to spontaneous amputation of the digit. Familial occurrence has been noted by {3:Maass (1926)} and by {1:DaSilva Lima (1880)}. {4:Simon (1921)} reported ainhum in father and 2 sons. Ainhum-like constriction bands occur with neurogenic acroosteolysis ({201300}) and with mutilating keratoderma ({124500}, {244850})." +103500,"Tietz albinism-deafness syndrome (TADS) is characterized by generalized pigment loss and congenital complete sensorineural hearing loss (summary by {2:Izumi et al., 2008})." +103580,"Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH; {168450}). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, {188540}) and gonadotropins. PHP Ia is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation ({58:Mantovani and Spada, 2006}).\n\nIn contrast, pseudopseudohypoparathyroidism (PPHP; {612463}) is characterized by the physical findings of AHO but without hormone resistance ({42:Kinard et al., 1979}; {29:Fitch, 1982}; {58:Mantovani and Spada, 2006}).\n\nPHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect ({15:Davies and Hughes, 1993}; {81:Wilson et al., 1994}). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections." +103900,"Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol ({10:Lifton et al., 1992}). There is significant phenotypic heterogeneity, and some individuals never develop hypertension ({19:Stowasser et al., 2000}).\n\n<Subhead> Genetic Heterogeneity of Familial Hyperaldosteronism\n\nFamilial hyperaldosteronism type II (HALD2; {605635}) is caused by mutation in the CLCN2 gene ({600570}) on chromosome 3q27. Familial hyperaldosteronism type III (HALD3; {613677}) is caused by mutation in the KCNJ5 gene ({600734}) on chromosome 11q24. Familial hyperaldosteronism type IV (HALD4; {617027}) is caused by mutation in the CACNA1H gene ({607904}) on chromosome 16p13." +104000,"Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime risk of approximately 2%, making it one of the most common human autoimmune diseases. It shows a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body ({6:Gilhar and Kalish, 2006})." +104100,"Palmoplantar keratoderma and congenital alopecia-1 (PPKCA1) is a rare autosomal dominant disorder characterized by severe hyperkeratosis and congenital alopecia. Nail changes occur in some patients (summary by {2:Castori et al., 2010}).\n\nAlso see PPKCA2 ({212360}), an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation." +104200,"Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss ({1:Alport, 1927}).\n\nFor a general phenotypic description of Alport syndrome, see the X-linked dominant form (ATS1; {301050}). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (ATS2; {203780}); autosomal dominant inheritance is rare ({11:van der Loop et al., 2000}).\n\nAlso see benign familial hematuria (BFH; {141200}), a similar but milder disorder also caused by mutation in the COL4A3 gene." +104290,"Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment ({5:Mikati et al., 1992}).\n\nThe disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; {141500}) and GLUT1 deficiency syndrome ({606777}) ({6:Rotstein et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Alternating Hemiplegia of Childhood\n\nSee also AHC2 ({614820}), caused by mutation in the ATP1A3 gene ({182350})." +104300,"Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions ({180:Sennvik et al., 2000}). {199:Terry and Davies (1980)} pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).\n\n{72:Haines (1991)} reviewed the genetics of AD. {179:Selkoe (1996)} reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. {202:Theuns and Van Broeckhoven (2000)} reviewed the transcriptional regulation of the genes involved in Alzheimer disease.\n\n<Subhead> Genetic Heterogeneity of Alzheimer Disease\n\nAlzheimer disease is a genetically heterogeneous disorder. See also AD2 ({104310}), associated with the APOE*4 allele ({107741}) on chromosome 19; AD3 ({607822}), caused by mutation in the presenilin-1 gene (PSEN1; {104311}) on 14q; and AD4 ({606889}), caused by mutation in the PSEN2 gene ({600759}) on 1q31.\n\nThere is evidence for additional AD loci on other chromosomes; see AD5 ({602096}) on 12p11; AD6 ({605526}) on 10q24; AD7 ({606187}) on 10p13; AD8 ({607116}) on 20p; AD9 ({608907}), associated with variation in the ABCA7 gene ({605414}) on 19p13; AD10 ({609636}) on 7q36; AD11 ({609790}) on 9q22; AD12 ({611073}) on 8p12-q22; AD13 ({611152}) on 1q21; AD14 ({611154}) on 1q25; AD15 ({604154}) on 3q22-q24; AD16 ({300756}) on Xq21.3; AD17 ({615080}) on 6p21.2; and AD18 ({615590}), associated with variation in the ADAM10 gene ({602192}) on 15q21.\n\nEvidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease ({502500}).\n\nFinally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; {103950.0005}), low density lipoprotein-related protein-1 (LRP1; {107770}), the transferrin gene (TF; {190000}), the hemochromatosis gene (HFE; {613609}), the NOS3 gene ({163729}), the vascular endothelial growth factor gene (VEGF; {192240}), the ABCA2 gene ({600047}), and the TNF gene ({191160}) (see MOLECULAR GENETICS)." +104350,"{1:Rich et al. (1987)} reported this combination in a 24-year-old primigravida and her male infant offspring. The mother had multiple congenital anomalies including dysmorphic low-set ears, high-arched palate, flat broad nasal bridge, ptosis, epicanthic folds with an antimongoloid slant of the eyes and hypertelorism, congenital hip anomaly, scoliosis, hemivertebra, bilateral syndactyly of the fingers and toes, cubitus valgus, mitral valve prolapse, umbilical hernia, and bilateral amastia. At the age of 18 months, left nephrectomy had been performed for hydronephrosis. Ureteral triplication was discovered. At 5 months of gestation, her son was found to have hydrocephalus on the left. At birth, he had dysmorphic low-set ears, flat broad nasal bridge, high-arched palate, antimongoloid slant of the eyes with hypertelorism, ptosis, epicanthic folds, tapered digits, cubitus valgus, pectus excavatum, bilateral amastia, umbilical hernia, and a left flank mass consistent with hydronephrosis. There was a 'machinery' murmur consistent with patent ductus arteriosus (see {607411})." +104400,"Most cases are sporadic. Some families have affected relatives, suggesting a complex genetic etiology.\n\n{1:Bermejo-Sanchez et al. (2011)} described the epidemiology of congenital amelia using data gathered from 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiologic analyses focused on isolated cases (about one-third) and those with multiple congenital anomalies (MCA) (two-thirds). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths, and, for some programs, elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval 1.26-1.57). Only China, Beijing, and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some underregistration could have influenced the total prevalence in some programs. Liveborn cases represented 54.6% of the total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal defects, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly." +104500,"Amelogenesis imperfecta type IB is an autosomal dominant disorder of tooth enamel biomineralization resulting in enamel hypoplasia (summary by {2:Brookes et al., 2017})." +104530,"Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see {8:Witkop, 1989})." +104570,"{2:Witkop et al. (1975)} described a kindred segregating for a syndrome comprising hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis. {3:Witkop and Sauk (1976)} observed a second kindred. The affected persons included father-son pairs. No further cases have been reported ({1:Witkop, 1982})." +104600,"The association of secondary amenorrhea and galactorrhea is generally thought to occur in 2 distinct syndromes: the Forbes-Albright syndrome, in which amenorrhea and galactorrhea are accompanied by a pituitary tumor, with or without prior pregnancy, and the Chiari-Frommel syndrome, in which amenorrhea and galactorrhea commence after pregnancy, without associated pituitary tumor. This distinction may be artificial ({2:Rimoin and Schimke, 1971}), because the pituitary adenoma may be too small to identify clinically and progression from the benign to the neoplastic syndrome has been documented ({3:Young et al., 1967}). {1:Linquette et al. (1967)} described mother and daughter with amenorrhea-galactorrhea associated with pituitary adenoma. The mother first developed clinical signs after a pregnancy, whereas the daughter was never pregnant and amenorrhea followed emotional trauma. The sella turcica was enlarged in both and tumor was confirmed by craniotomy. The tumors resembled chromophobe adenomas, but there was fine eosinophilic granulation on tetrachrome staining, as seen in prolactin cells. Since the amenorrhea-galactorrhea syndrome has been described as a part of a multiple endocrine adenomatosis syndrome, it is not certain that the ailment in the mother and daughter reported by {1:Linquette et al. (1967)} represented a distinct entity." +105120,"The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported ({15:Meretoja, 1973})." +105150,"Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and leptomeninges, is a major cause of intracerebral hemorrhage in the elderly ({23:Vinters, 1987}, {8:Greenberg, 1998}). {18:Palsdottir et al. (1988)} referred to the disorder in Icelandic patients as hereditary cystatin C amyloid angiopathy (HCCAA)." +105210,"Hereditary amyloidoses are a clinically and genetically heterogeneous group of autosomal dominantly inherited diseases characterized by the deposit of unsoluble protein fibrils in the extracellular matrix (summary by {41:Hund et al., 2001}). Patients with transthyretin amyloidosis typically present with polyneuropathy, carpal tunnel syndrome, autonomic insufficiency, cardiomyopathy, and gastrointestinal features, occasionally accompanied by vitreous opacities and renal insufficiency. In later stages of the disease severe diarrhea with malabsorption, cachexia, incapacitating neuropathy, severe cardiac disturbances, and marked orthostatic hypotension dominate the clinical picture. Death usually occurs 5 to 15 years after onset of symptoms.\n\nBefore the emergence of molecular genetics, hereditary amyloidoses were classified into 4 subtypes according to symptom constellation and ethnic origin (summary by {41:Hund et al., 2001}). The course of disease beginning with sensorimotor polyneuropathy that starts in early adulthood symmetrically at the legs and progresses rather rapidly to incapacitate the patient within a few years has been labeled familial amyloid polyneuropathy type I (FAP I), also known as Portuguese, Portuguese-Swedish-Japanese, or Andrade type. FAP I can be considered the prototype of the manifestation of hereditary TTR amyloidosis. The overwhelming majority of cases of FAP I result from a val30-to-met (V30M; {176300.0001}) substitution. A course of disease with neuropathy beginning at the hands and frequent carpal tunnel operations has been designated FAP II, also known as the Indiana/Swiss ({176300.0006}) or Maryland/German ({176300.0003}) type. Vitreous opacities occur early in the disease course, whereas impotence and renal insufficiency are rare. Amyloidosis due to mutations in the APOA1 gene ({107650}) has been referred to as FAP III or Iowa type (see {105200} and {107680.0010}). The Finnish type of amyloidosis ({105120}) has been referred to as FAP IV and is caused by mutations in gelsolin ({137350}).\n\nSystems based on clinical phenotypes have historically been used to classify the amyloidoses, but emphasis on the characterization of the amyloid fibril protein has proved more useful ({63:Saraiva, 2002}). In addition to hereditary amyloidosis, 2 other major forms of systemic amyloidosis exist. Immunoglobulin (AL) amyloidosis, formerly known as primary amyloidosis, is caused by the accumulation of monoclonal immunoglobulin (Ig) light chains as amyloid fibrils. Reactive (AA) amyloidosis, formerly known as secondary amyloidosis, is associated with chronic inflammatory diseases (e.g., rheumatoid arthritis, {180300}; familial Mediterranean fever, {249100}), and fibrils are derived from the circulating acute-phase reactant serum amyloid A protein (see {104750}).\n\n{2:Ando et al. (2005)} provided a review of transthyretin-related familial amyloid polyneuropathy. The authors stated that the phenotypes can be classified into neuropathic, oculoleptomeningeal, and cardiac." +105250,"Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by {16:Tanaka et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Primary Localized Cutaneous Amyloidosis\n\nPrimary localized cutaneous amyloidosis-2 (PLCA2; {613955}) is caused by heterozygous mutation in the IL31RA gene ({609510}) on chromosome 5q11. Primary localized cutaneous amyloidosis-3 (PLCA3; {617920}) is caused by mutation in the GPNMB gene ({604368}) on chromosome 7p15." +105300,"{1:Gilman and Horenstein (1964)} described dystonia, progressive amyotrophy, mental retardation, nystagmus, and incontinence of bowel and bladder in association with spastic paraplegia. Twelve members of 3 generations were involved to an extent varying from an asymptomatic condition to a severely disabling one beginning in late childhood." +105400,"Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial ({106:Siddique and Deng, 1996}). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder.\n\n{100:Rowland and Shneider (2001)} and {62:Kunst (2004)} provided extensive reviews of ALS.\n\nSome forms of ALS occur with frontotemporal dementia (FTD); see {105500}. {93:Ranganathan et al. (2020)} provided a detailed review of the genes involved in different forms of ALS with FTD, noting that common disease pathways involve disturbances in RNA processing, autophagy, the ubiquitin proteasome system, the unfolded protein response, and intracellular trafficking. The current understanding of ALS and FTD is that some forms of these disorders represent a spectrum of disease with converging mechanisms of neurodegeneration.\n\nFamilial ALS is distinct from a form of ALS with dementia reported in cases on Guam ({105500}) ({35:Espinosa et al., 1962}; {54:Husquinet and Franck, 1980}), in which the histology is different and dementia and parkinsonism complicate the clinical picture.\n\n<Subhead> Genetic Heterogeneity of Amyotrophic Lateral Sclerosis\n\nALS is a genetically heterogeneous disorder, with several causative genes and mapped loci.\n\nALS6 ({608030}) is caused by mutation in the FUS gene ({137070}) on chromosome 16p11; ALS8 ({608627}) is caused by mutation in the VAPB gene ({605704}) on chromosome 13; ALS9 ({611895}) is caused by mutation in the ANG gene ({105850}) on chromosome 14q11; ALS10 ({612069}) is caused by mutation in the TARDBP gene ({605078}) on 1p36; ALS11 ({612577}) is caused by mutation in the FIG4 gene ({609390}) on chromosome 6q21; ALS12 ({613435}) is caused by mutation in the OPTN gene ({602432}) on chromosome 10p13; ALS15 ({300857}) is caused by mutation in the UBQLN2 gene ({300264}) on chromosome Xp11; ALS18 ({614808}) is caused by mutation in the PFN1 gene ({176610}) on chromosome 17p13; ALS19 ({615515}) is caused by mutation in the ERBB4 gene ({600543}) on chromosome 2q34; ALS20 ({615426}) is caused by mutation in the HNRNPA1 gene ({164017}) on chromosome 12q13; ALS21 ({606070}) is caused by mutation in the MATR3 gene ({164015}) on chromosome 5q31; ALS22 ({616208}) is caused by mutation in the TUBA4A gene ({191110}) on chromosome 2q35; ALS23 ({617839}) is caused by mutation in the ANXA11 gene ({602572}) on chromosome 10q23; and ALS26 ({619133}) is caused by mutation in the TIA1 gene ({603518}) on chromosome 2p13.\n\nLoci associated with ALS have been found on chromosomes 18q21 (ALS3; {606640}) and 20p13 (ALS7; {608031}).\n\nIntermediate-length polyglutamine repeat expansions in the ATXN2 gene ({601517}) contribute to susceptibility to ALS (ALS13; {183090}). Susceptibility to ALS24 ({617892}) is conferred by mutation in the NEK1 gene ({604588}) on chromosome 4q33, and susceptibility to ALS25 ({617921}) is conferred by mutation in the KIF5A gene ({602821}) on chromosome 12q13. Susceptibility to ALS has been associated with mutations in other genes, including deletions or insertions in the gene encoding the heavy neurofilament subunit (NEFH; {162230}); deletions in the gene encoding peripherin (PRPH; {170710}); and mutations in the dynactin gene (DCTN1; {601143}).\n\nSome forms of ALS show juvenile onset. See juvenile-onset ALS2 ({205100}), caused by mutation in the alsin ({606352}) gene on 2q33; ALS4 ({602433}), caused by mutation in the senataxin gene (SETX; {608465}) on 9q34; ALS5 ({602099}), caused by mutation in the SPG11 gene ({610844}) on 15q21; and ALS16 ({614373}), caused by mutation in the SIGMAR1 gene ({601978}) on 9p13." +105500,"Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodegenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual." +105550,"Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) is an autosomal dominant neurodegenerative disorder characterized by adult onset of one or both of these features in an affected individual, with significant intrafamilial variation. The disorder is genetically and pathologically heterogeneous (summary by {54:Vance et al., 2006}). Patients with C9ORF72 repeat expansions tend to show a lower age of onset, shorter survival, bulbar symptom onset, increased incidence of neurodegenerative disease in relatives, and a propensity toward psychosis or hallucinations compared to patients with other forms of ALS and/or FTD (summary by {17:Harms et al., 2013}). Patients with C9ORF72 repeat expansions also show psychiatric disturbances that may predate the onset of dementia ({31:Meisler et al., 2013}; {15:Gomez-Tortosa et al., 2013}).\n\n{41:Ranganathan et al. (2020)} provided a detailed review of the genes involved in different forms of FTDALS, noting that common disease pathways involve disturbances in RNA processing, autophagy, the ubiquitin proteasome system, the unfolded protein response, and intracellular trafficking. The current understanding of ALS and FTD is that some forms of these disorders represent a spectrum of disease with converging mechanisms of neurodegeneration.\n\nFor a general phenotypic description of frontotemporal dementia, also known as frontotemporal lobar degeneration (FTLD), see {600274}. For a general discussion of motor neuron disease (MND), see amyotrophic lateral sclerosis-1 (ALS1; {105400}).\n\n<Subhead> Genetic Heterogeneity of Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis\n\nSee also FTDALS2 ({615911}), caused by mutation in the CHCHD10 gene ({615903}) on chromosome 22q11; FTDALS3 ({616437}), caused by mutation in the SQSTM1 gene ({601530}) on chromosome 5q35; FTDALS4 ({616439}), caused by mutation in the TBK1 gene ({604834}) on chromosome 12q14; FTDALS5 ({619141}), caused by mutation in the CCNF gene ({600227}) on chromosome 16p13; FTDALS6 ({613954}), caused by mutation in the VCP gene ({601023}) on chromosome 9p13; FTDALS7 ({600795}), caused by mutation in the CHMP2B gene ({609512}) on chromosome 3p11; and FTDALS8 ({619132}), caused by mutation in the CYLD gene ({605018}) on chromosome 16q12." +105565,"{2:Kamm et al. (1991)} described a family in which at least 1 member in each of 5 successive generations had severe proctalgia fugax beginning in the third to fifth decades of life. They studied in detail 3 members of the family demonstrating a 'new' myopathy of the internal anal sphincter. Each affected member had severe pain intermittently during the day and hourly during the night. Clinically the internal anal sphincter was thickened and of decreased compliance. The maximum anal canal pressure was usually increased with marked ultraslow wave activity. One patient showed marked improvement with strip myectomy of the internal anal sphincter; a second was relieved of constipation but had only slight improvement of pain. The hypertrophied muscle showed unique myopathic changes, consisting of vacuolar changes with periodic acid-Schiff-positive polyglycosan bodies in the smooth muscle fibers and increased endomysial fibrosis. {1:Celik et al. (1995)} described anorectal ultrasonography, manometry and sensory testing in 3 affected persons from a family with autosomal dominant inheritance of proctalgia fugax. Two affected members had hypertension as well as proctalgia fugax; treatment with the calcium antagonist nifedipine reduced anal tone, decreased the frequency and intensity of anal pain, and returned blood pressure to the normal range.\n\n('Proctalgia fugax' means fleeting pain in the rectum. The same Latin root, fugere (to flee), appears in 'fugitive' and 'centrifugal.')" +105570,"Human sensory perception of androstenone, a C19 androgen with a distinctive odor, exhibits great individual variation. Among adults, about 50% report no odor, even at high concentrations. About 15% detect a subtle odor, are not offended by it, and may even find it pleasant. The remaining 35% are exquisitely sensitive to androstenone, detecting less than 200 parts per trillion in air, and ascribe a foul odor to the steroid, usually that of stale urine or strong sweat. {3:Wysocki and Beauchamp (1984)} concluded that there is a genetic component of variation in sensitivity to this odor, based on a finding of a greater correlation for MZ twins than for DZ twins. Whether this difference in the ability to smell androstenone is based on differences in a specific peripheral receptor or in central processing is not certain. The same study examined the ability to smell pyridine and found no difference between MZ and DZ twins. {4:Wysocki et al. (1989)} reported that the ability to perceive androstenone was induced in 10 of 20 initially insensitive subjects who were systematically exposed to androstenone. Since olfactory neurons of the olfactory epithelium undergo periodic replacement from differentiating basal cells, and assuming the induction of sensitivity to be peripheral, it is possible that apparently anosmic humans do in fact possess olfactory neurons with specific receptors for androstenone. Such neurons may undergo clonal expansion, or selection of lineages with more receptors or receptors of higher affinity, in response to androstenone stimulation, much in the manner of lymphocytes responding to antigenic stimulation. Provisionally, {4:Wysocki et al. (1989)} envisaged 3 categories of human subjects, the truly anosmic, the inducible, and those who are either constitutionally sensitive or have already experienced incidental induction.\n\nThe induction of sensitivity to an inducing odorant is specific to the odorant being tested. The induction is stable, lasting at least 6 weeks in humans ({3:Wysocki and Beauchamp, 1984}). {2:Reed (1996)} noted that since a change in the electroolfactogram (EOG) corresponds with this induction, the induction results from changes within the olfactory epithelium. It may be that this increase in sensitivity arises from the stimulus-induced activation of specific receptor expression. This induction could occur through an increase in cell number or level of expression in each cell. An alternative explanation, consistent with models based on the loss of receptor genes, is that long-term exposure to the stimulus leads to elevated second messengers that might positively regulate gene expression for 1 or more of the components of the signaling pathway. One would have to hypothesize that these changes in gene expression would occur in cells that were expressing related receptor genes and responding at subthreshold levels. These changes in expression could lead to increased sensitivity, specifically in those particular cells that expressed structurally related receptors capable of responding to the odorant." +105580,"Squamous carcinoma of the anal canal is a relatively uncommon tumor. Most of these carcinomas develop from squamous epithelium, but some arise from the transitional zone between the columnar epithelium of the rectum and the squamous epithelium of the anal canal. The latter type is called cloacogenic or transitional carcinoma. In a cytogenetic study of 8 cases of anal canal cancer (1 cloacogenic and 7 squamous cell), {1:Muleris et al. (1987)} found that all had chromosomal abnormalities. A rearrangement involving the long arm of chromosome 11 was found in all instances. Rearrangements of chromosome 3, detected in 6 tumors, led to a deletion of the short arm in 5 cases. The smallest common deleted segments were 11q22-qter and 3p22. The authors pointed out that this may be a situation comparable to that in retinoblastoma ({180200}), Wilms tumor ({194070}), osteosarcoma ({259500}), and acoustic neurinoma ({101000})." +105600,"Congenital dyserythropoietic anemia type IIIa (CDAN3A) is a rare autosomal dominant hematologic disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow. The disorder results from ineffective erythropoiesis. Laboratory studies show evidence of intravascular hemolysis, including increased thymidine kinase, lactate dehydrogenase, and/or undetectable haptoglobin (summary by {8:Lind et al., 1995}; {7:Liljeholm et al., 2013}).\n\nFor a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see {224120}." +105650,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {44:Landowski et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Diamond-Blackfan Anemia\n\nA locus for DBA (DBA2; {606129}) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 ({610629}), caused by mutation in the RPS24 gene ({602412}) on 10q22; DBA4 ({612527}), caused by mutation in the RPS17 gene ({180472}) on 15q; DBA5 ({612528}), caused by mutation in the RPL35A gene ({180468}) on 3q29; DBA6 ({612561}), caused by mutation in the RPL5 gene ({603634}) on 1p22.1; DBA7 ({612562}), caused by mutation in the RPL11 gene ({604175}) on 1p36; DBA8 ({612563}), caused by mutation in the RPS7 gene ({603658}) on 2p25; DBA9 ({613308}), caused by mutation in the RPS10 gene ({603632}) on 6p; DBA10 ({613309}), caused by mutation in the RPS26 ({603701}) gene on 12q; DBA11 ({614900}), caused by mutation in the RPL26 gene ({603704}) on 17p13; DBA12 ({615550}), caused by mutation in the RPL15 gene ({604174}) on 3p24; DBA13 ({615909}), caused by mutation in the RPS29 gene ({603633}) on 14q; DBA14 ({300946}), caused by mutation in the TSR2 gene ({300945}) on Xp11; DBA15 ({606164}), caused by mutation in the RPS28 gene ({603685}) on 19p13; DBA16 ({617408}), caused by mutation in the RPL27 gene ({607526}) on 17q21; DBA17 ({617409}), caused by mutation in the RPS27 gene ({603702}) on 1q21; DBA18 ({618310}), caused by mutation in the RPL18 gene ({604179}) on 19q; DBA19 ({618312}), caused by mutation in the RPL35 gene ({618315}) on 9q33; and DBA20 ({618313}), caused by mutation in the RPS15A gene ({603674}) on 16p.\n\n{7:Boria et al. (2010)} reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.\n\n{25:Gazda et al. (2012)} completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. {25:Gazda et al. (2012)} stated that in total these mutations account for approximately 54% of all DBA patients.\n\nIn a study of 98 Japanese patients with DBA, {64:Wang et al. (2015)} detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient." +105800,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {16:Krischek and Inoue, 2006}).\n\n<Subhead> Genetic Heterogeneity of Intracranial Berry Aneurysm\n\nIntracranial berry aneurysm-1 (ANIB1) has been mapped to chromosome 7q11.2.\n\nOther mapped loci for intracranial berry aneurysm include ANIB2 ({608542}) on chromosome 19q13, ANIB3 ({609122}) on 1p36.13-p34.3, ANIB4 ({610213}) on 5p15.2-14.3, ANIB5 ({300870}) on Xp22, ANIB6 ({611892}) on 9p21, ANIB7 ({612161}) on 11q24-q25, ANIB8 ({612162}) on 14q23, ANIB9 ({612586}) on 2q, ANIB10 ({612587}) on 8q, and ANIB11 ({614252}) on 8p22. ANIB12 ({618734}) is caused by mutation in the THSD1 gene ({616821})." +105830,"Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; {176270}) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome ({608636}) shows overlapping clinical features.\n\n{25:Clayton-Smith and Pembrey (1992)} provided a review of Angelman syndrome. {20:Cassidy and Schwartz (1998)} reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. {56:Horsthemke and Wagstaff (2008)} provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.\n\n{116:Van Buggenhout and Fryns (2009)} provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism." +106050,"Angioma serpiginosum is an uncommon benign skin disorder characterized by asymptomatic clusters of nonpurpuric punctate erythematous lesions. The rash is asymptomatic but may lead to cosmetic problems and can be treated by laser therapy. Women are most commonly affected, and the disorder is most often sporadic, although rare families suggestive of autosomal dominant inheritance have been reported ({8:Sandhu and Gupta, 2005}). No male-to-male transmission has been described, but father-to-daughter transmissions are known. It has been suggested that the pattern of skin involvement may be due to cutaneous somatic mosaicism ({3:Chen et al., 2006}; {2:Blinkenberg et al., 2007}).\n\nAn X-linked dominant form of angioma serpiginosum ({300652}) has been mapped. The few males described may actually represent somatic mosaicism of an X-linked gene." +106100,"Hereditary angioedema-1 and -2 (HAE1 and HAE2) refer to disorders caused by mutation in the SERPING1 (C1HN) gene. The disorders are clinically indistinguishable: both are characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. HAE1, representing 85% of patients, is characterized by serum levels of C1NH less than 35% of normal ({14:Cicardi and Agostoni, 1996}; {12:Bowen et al., 2001}). HAE2 is characterized by normal or even elevated C1NH levels, but the protein is nonfunctional.\n\n<Subhead> Genetic Heterogeneity of Hereditary Angioedema\n\nSee also HAE3 ({610618}), caused by mutation in the F12 gene ({610619}) on chromosome 5q35; HAE4 ({619360}), caused by mutation in the PLG gene ({173350}) on chromosome 6q26; HAE5 ({619361}), caused by mutation in the ANGPT1 gene ({601667}) on chromosome 8q23; HAE6 ({619363}), caused by mutation in the KNG1 gene ({612358}) on chromosome 3q27; HAE7 ({619366}), caused by mutation in the myoferlin gene (MYOF; {604603}) on chromosome 10q23; and HAE8 ({619367}), caused by mutation in the HS3ST6 gene ({619210}) on chromosome 16p13.\n\nSee also {300145} for a discussion of angioedema induced by ACE inhibitors.\n\n{84:Zuraw (2008)}, {10:Bork et al. (2020)}, and {73:Veronez et al. (2021)} provided detailed reviews of the clinical features, management, and pathogenesis of the different genetic forms of hereditary angioedema. The pathogenesis is complex and is related to excessive production of bradykinin, which causes dilation, as well as to other signaling pathways that regulate vascular permeability." +106150,"Angiotensin is formed from a precursor, angiotensinogen, which is produced by the liver and found in the alpha-globulin fraction of plasma. The lowering of blood pressure is a stimulus to secretion of renin ({179820}) by the kidney into the blood. Renin cleaves from angiotensinogen a terminal decapeptide, angiotensin I. This is further altered by the enzymatic removal of a dipeptide to form angiotensin II." +106180,"Angiotensin I-converting enzyme ({EC 3.4.15.1}), or kininase II, is a dipeptidyl carboxypeptidase that plays an important role in blood pressure regulation and electrolyte balance by hydrolyzing angiotensin I into angiotensin II, a potent vasopressor, and aldosterone-stimulating peptide. The enzyme is also able to inactivate bradykinin, a potent vasodilator." +106190,"Isolated anhidrosis with normal sweat glands (ANHD) is characterized by absence of perspiration and subsequent heat intolerance with normal morphology and number of sweat glands. Teeth, hair, nails, and skin are normal ({3:Klar et al., 2014})." +106210,"Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The effect on vision is similarly variable (summary by {35:Jordan et al., 1992}).\n\n<Subhead> Genetic Heterogeneity of Aniridia\n\nThere is also evidence that aniridia-2 (AN2) is caused by mutation in a PAX6 cis-regulatory element (SIMO) that resides in an intron of the adjacent ELP4 gene ({606985}), and that aniridia-3 (AN3) is caused by mutation in the TRIM44 gene ({612298}) on chromosome 11p13.\n\nSee also Gillespie syndrome ({206700}), in which aniridia is associated with cerebellar ataxia and mental retardation." +106230,"Aniridia, microcornea, and spontaneously reabsorbed cataract represents a complex phenotype of ocular malformation. Bilateral microphathalmia, persistent fetal vasculature, and secondary glaucoma have also been observed ({1:Marakhonov et al., 2020})." +106240,"Unequal pupil size without associated features of the Horner syndrome ({143000}) or any other abnormality has been observed in a dominant pedigree pattern. We have observed one such family (P14104). {1:Cheng and Catalano (1990)} described uniocular, fatigue-induced mydriasis of the left pupil in a 36-year-old man and his 7-year-old daughter. The father dated the onset of his disorder to childhood, and it had been noted in his daughter for at least 2 years. Anisocoria consistently developed in both subjects after about 17 hours of wakefulness and resolved after about 2 hours of sleep. The father had a history of migraine headaches. The internal ophthalmoplegia that is occasionally seen in patients with ophthalmoplegic migraine typically follows or accompanies ocular or periocular pain. Furthermore, the paralysis usually lasts longer than 2 hours." +106260,"Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC) is an autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon, and cleft lip and/or palate (summary by {11:McGrath et al., 2001})." +106280,"Ankyloglossia, commonly known as 'tongue-tie,' is a congenital anomaly that occurs predominantly in males and is characterized by an abnormally short lingual frenulum. The phenotype varies from absence of clinical significance to rare complete ankyloglossia where the ventral part of the tongue is fused to the floor of the mouth ({5:Klockars, 2007}). Some patients also exhibit absence of lower incisors ({1:Acevedo et al., 2010})." +106300,"Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders comprising the prototype ankylosing spondylitis (AS), a subset of psoriatic arthritis (PsA), reactive arthritis (ReA), arthritis associated with inflammatory bowel disease, and undifferentiated spondyloarthropathy ({27:Miceli-Richard et al., 2004}). These phenotypes are difficult to differentiate because they may occur simultaneously or sequentially in the same patient. Studies have suggested that a predominant shared component, including HLA-B27, predisposes to all phenotypic subsets, and that these subsets should be considered as various phenotypic expressions of the same disease ({37:Said-Nahal et al., 2000}, {38:Said-Nahal et al., 2001}).\n\n{3:Braun and Sieper (2007)} provided a detailed review of ankylosing spondylitis, including clinical features, pathogenesis, and management.\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Spondyloarthropathy\n\nAdditional susceptibility loci for spondyloarthropathy have been identified on chromosome 9q31-q34 (SPDA2; {183840}) and chromosome 2q36 (SPDA3; {613238})." +106400,"{1:Beardwell (1969)} described a family of Greek Cypriot extraction in which at least 8 persons in 4 sibships in 2 generations were known to have a combination of ankylosing vertebral hyperostosis and tylosis (see {144200}). The tylosis was a punctate hyperkeratosis of the soles and palms. In addition, 6 persons had tylosis alone; thus, these may have been 2 independent genetic traits in this kindred. (This condition is sometimes called Forestier disease, although Forestier described senile ankylosing hyperostosis ({4:Forestier and Rotes-Querol, 1950}) and, before Beardwell's paper, familial occurrence had never been noted.) The family contained instances of male-to-male transmission. No member had the spinal disease without tylosis. No further families were known to {2:Beardwell (1978)}. Involvement of the appendicular skeleton was recognized by {5:Resnick et al. (1975)}, who proposed the designation diffuse idiopathic skeletal hyperostosis (DISH). The prevalence of DISH was studied in various population groups by {6:Utsinger (1985)}. Although DISH was thought to be less common in American blacks as compared to Caucasians, {3:Cassim et al. (1990)} found it rather frequent among hospitalized blacks in Africa." +106500,{1:Beare et al. (1966)} described an Irish family in which 4 persons in 3 generations suffered from annular erythema. +106600,"Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by {3:Gorlin et al. (1990)}. The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see {114600} and {302400}.\n\nSelective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete ({8:Salinas, 1978}).\n\n<Subhead> Genetic Heterogeneity of Selective Tooth Agenesis\n\nOther forms of selective tooth agenesis include STHAG2 ({602639}), mapped to chromosome 16q12; STHAG3 ({604625}), caused by mutation in the PAX9 gene ({167416}) on chromosome 14q12; STHAG4 ({150400}), caused by mutation in the WNT10A gene ({606268}) on chromosome 2q35; STHAG5 ({610926}), mapped to chromosome 10q11; STHAG7 ({616724}), caused by mutation in the LRP6 gene ({603507}) on chromosome 12p13; STHAG8 ({617073}), caused by mutation in the WNT10B gene ({601906}) on chromosome 12q13; STHAG9 ({617275}), caused by mutation in the GREM2 gene ({608832}) on chromosome 1q43; and STHAGX1 ({313500}), caused by mutation in the EDA gene ({300451}) on chromosome Xq13.\n\nA type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; {601216}).\n\nOf 34 unrelated patients with nonsyndromic tooth agenesis, {9:van den Boogaard et al. (2012)} found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia.\n\n<Subhead> Genotype-Phenotype Correlations\n\n{12:Yu et al. (2016)} observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars." +106700,"Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by {4:Bleyl et al., 1994})." +106750,{1:Verbov (1975)} described this combination in a mother and her son and daughter. A brother of the mother was said to be affected. In the axillae and groin both hyperpigmentation and hypopigmentation were found. The skin of the soles and palms was dry. +106900,"{1:Lees et al. (1957)} described a condition of absence of some or all fingernails with variable absence of some phalanges and metacarpals. A suggestion of linkage with the Lutheran locus was presented. The distinctness from the EEC syndrome ({129900}), which combines ectrodactyly with ectodermal abnormalities and cleft lip-palate, is problematic." +106995,"Familial anonychia/onychodystrophy with hypoplasia or absence of distal phalanges (ODP) is a rare disorder characterized by onychodystrophy, anonychia, brachydactyly of the fifth finger, and digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet. Generally the nails of the first to third digits are progressively deformed with total anonychia in the last 2 digits and in all toes (summary by {4:Genzer-Nir et al., 2010}).\n\nA syndrome has been described in which affected females display juvenile hypertrophy of the breast (JHB; {113670}) in association with ODP, whereas males have only ODP (mammary-digital-nail syndrome; {613689})." +107000,"Congenital absence of the nails is a rare condition. Some pedigrees display complete congenital absence of the nails (see, e.g., NDNC4, {206800}), whereas in other pedigrees there is only partial congenital anonychia, with the thumbs and great toes most severely affected and progressively less severe changes in the more lateral digits (summary by {2:Charteris, 1918}). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-6 (NDNC6).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050})." +107250,"Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {2:Cheong et al., 2016}).\n\nAnterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon ({5:Gould and John, 2002}).\n\nSome patients with ASGD1 have been reported with the Peters anomaly subtype.\n\nIn its simplest form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by {13:Withers et al., 1999})." +107280,"Alpha-1-antichymotrypsin is a plasma protease inhibitor synthesized in the liver. It is a single glycopeptide chain of about 68,000 daltons and belongs to the class of serine protease inhibitors. In man, the normal serum level is about one-tenth that of alpha-1-antitrypsin (PI; {107400}), with which it shares nucleic acid and protein sequence homology ({1:Chandra et al., 1983}). Both are major acute phase reactants; their concentrations in plasma increase in response to trauma, surgery, and infection. Antithrombin III, which also is structurally similar to alpha-1-antitrypsin, shows less sequence homology to antichymotrypsin and is not an acute phase reactant." +107290,"In the rat, each of 3 urinary metabolites of antipyrine (AP)--4-hydroxyantipyrine (4-OH-AP), 3-hydroxymethylantipyrine (3-OHM-AP), and N-demethylantipyrine (NDM-AP)--appears to be formed by a separate combination of hepatic cytochrome P-450-mediated monooxygenases; variations in each separate monooxygenase appear to be controlled by a separate genetic locus ({1:Danhof et al., 1979}; {2:Inaba et al., 1980}). {3:Penno et al. (1981)} showed by means of twin study that heritability for rate constants for formation of the above 3 metabolites in man were 0.88, 0.85, and 0.70, respectively, and that in adult male subjects whose environments were carefully controlled these rate constants were highly reproducible. {4:Penno and Vesell (1983)} then studied 83 unrelated adults and 61 members of 13 families. Trimodal curves were obtained for each of the 3 rate constants when the data from the 83 unrelated persons were plotted. The family studies supported monogenic control of each phenotype. Nine phenotypes were under investigation." +107320,"The designation 'antiphospholipid syndrome' was proposed for the association of arterial and venous thrombosis, recurrent fetal loss, and immune thrombocytopenia with a spectrum of autoantibodies directed against cellular phospholipid components. Anticardiolipin antibodies may react with cardiolipin and with other negatively charged phospholipids, including beta-2-glycoprotein I (B2GPI, APOH; {138700}). The term 'lupus anticoagulant' refers to a heterogeneous group of antibodies, most commonly of the IgG type, that are detected by their inhibitory effect on coagulant-active phospholipid components of in vitro coagulation tests (summary by {13:Matthey et al., 1989}).\n\n{17:Shoenfeld et al. (2008)} noted that antiphospholipid syndrome is characterized by up to 30 different autoantibodies, including those against platelets, glycoproteins, coagulation factors, lamins, mitochondrial antigens, and cell surface markers. Some of these may have an additive effect on the prothrombotic tendency of the syndrome.\n\n{16:Ruiz-Irastorza et al. (2010)} reviewed pathophysiologic, clinical, diagnostic, and therapeutic advances related to the antiphospholipid syndrome.\n\nVarious autoimmune disorders that cluster in families, including autoimmune thrombocytopenia ({188030}), are discussed elsewhere (e.g., {109100}, {269200})." +107410,"SERPINA2P is part of a cluster of structurally related serine protease inhibitor (SERPIN) genes on chromosome 14. However, SERPINA2P appears to be a pseudogene ({7:Rollini and Fournier, 1997})." +107440,"{1:Lin and Tan (1975)} used the deletion method to assign an antiviral state repressor regulator gene to 5p. There has been, it seems, no definitive report of this observation nor has it been confirmed by others." +107480,"Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease ({32:Webb et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Townes-Brocks Syndrome\n\nTownes-Brocks syndrome-2 (TBS2; {617466}) is caused by mutation in the DACT1 gene ({607861}) on chromosome 14q23." +107500,"In a mother and 3 of her children, {1:Strong (1968)} found right aortic arch, mental subnormality, and facial peculiarity difficult to describe. Three of the patients had esophageal indentation demonstrated by barium swallow, suggesting left ligamentum arteriosum or anomalous left subclavian artery. Two of the patients had microcephaly. A stillborn child had anencephaly and another died at 10 months with congenital heart disease and microcephaly." +107550,"{1:Levin et al. (1973)} described monozygotic female twins with a syndrome of hypoplasia or interruption of the transverse aortic arch, facial weakness involving particularly the depressor anguli oris, and bilateral retinal coloboma. {2:Marden and Venters (1966)} described macular coloboma and coarctation of the aorta in a single patient who also had the linear nevus sebaceous syndrome. Whether this is a genuine syndrome and, if so, whether it is mendelian is not clear." +107600,"Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp ({7:Evers et al., 1995}). Approximately 20 to 30% of cases have underlying osseous involvement ({6:Elliott and Teebi, 1997}). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported.\n\nCutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome ({243800}) and Adams-Oliver syndrome (AOS; {100300}). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; {194190}) ({14:Hirschhorn et al., 1965}; {8:Fryns et al., 1973}).\n\n{7:Evers et al. (1995)} provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC." +107640,"{1:Sequeiros and Martins da Silva (1988)} studied a large family with 6 cases of sudden infant death syndrome (SIDS; {272120}) and at least 4 cases of infantile sleep apnea ('near-miss SIDS') that occurred in 2 successive generations. They postulated that a structural CNS defect or a delay in maturation inherited in an autosomal dominant manner predisposes to SIDS in this family, with peak risk at about age 3 months. Survivors may suffer from recurrent episodes of infantile apnea or be completely asymptomatic. Somnograms remained abnormal as late as age 5 years." +107650,"Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs ({15:Palmer et al., 2003})." +107670,"Apolipoprotein A-II, like apolipoprotein A-I (APOA1; {107680}), is a major apolipoprotein in high density lipoprotein (HDL)." +107700,"{1:Baker (1937)} and others have reported families with numerous persons with appendicitis in a pattern consistent with dominant inheritance with irregular penetrance. {2:Barker and Morris (1988)} and {3:Barker et al. (1988)} reported results of epidemiologic studies in the U.K. demonstrating a relationship between housing conditions and the consumption of green vegetables in the frequency of acute appendicitis. These results remind us that familial aggregation may have a nongenetic basis. {4:Basta et al. (1990)} found that a positive family history for appendectomy was significantly more frequent in families of 80 consecutive patients with histopathologically proven acute appendicitis than in families of surgical controls matched for sex, age, and number of sibs. The relative risk was 10.0. Analysis of a collection of pedigrees supported a polygenic or multifactorial model with a total heritability of 56%. There is no evidence to support a major gene, although a rare gene could not be ruled out as the cause of a small proportion of cases.\n\n{5:Shamis et al. (1994)} studied 2-generation families containing a total of 2,331 persons. Aggregation of acute appendicitis in 782 families indicated a familial factor in predisposition." +107750,"This entry does not represent an expressed gene. It is included here mainly for historical purposes, since D14S1 was the first RFLP to be identified (after the DNA polymorphism discovered by {5:Kan and Dozy (1978)}).\n\n{2:Botstein et al. (1980)} suggested that variation in nucleotide sequences resulting in variation in cleavage by site-specific endonucleases ('restriction enzymes') are sufficiently frequent in the human genome as to be highly useful as markers in chromosome mapping. They suggested the designation restriction fragment length polymorphism (acronym, RFLP, pronounced 'rif-lip'). To be useful, the polymorphism should be in a single-copy sequence. A collection of 150-200 such polymorphisms distributed over the genome would have the potential for greatly enhancing the power of family linkage studies. Disorders of reduced penetrance and multifactorial causation might be amenable to genetic analysis. The HpaI polymorphism ({143020}) in a noncoding segment on the 3-prime flank of the beta-globin gene was the first to be found, by {5:Kan and Dozy (1978)}. Polymorphism was then defined in the noncoding part of the gamma-globin genes ({142200}). Before the paper of {2:Botstein et al. (1980)}, {9:Solomon and Bodmer (1979)} had suggested the usefulness of restriction polymorphisms as markers in linkage studies.\n\n{11:Wyman and White (1980)} found a human DNA segment (which they referred to as 'a locus') that was the site of restriction fragment length polymorphism. The polymorphism was found by hybridizing a 16-kilobase-pair segment of single-copy human DNA, selected from the human genome library cloned by Maniatis's group ({7:Lawn et al., 1978}) in lambda phage Charon 4A, to a Southern transfer of total human DNA digested with EcoRI. The 'locus' was found to be highly variable with a potential usefulness in linkage studies exceeded only by HLA ({10:White, 1981}). Family studies supported mendelian inheritance. Studies by somatic cell hybridization assigned the 'locus' to chromosome 14 ({10:White, 1981}). Terminology tentatively suggested was 'arbitrary restriction polymorphism' (ARP), with numbers in sequence of discovery. 'Anonymous' might be substituted for 'arbitrary.' It seemed desirable for the designation to include the chromosomal site (and such should be determined as early as possible). When more than one such polymorphism was assigned to one chromosome, a letter can be used following the chromosome number. According to this convention, the polymorphism described by {11:Wyman and White (1980)} was designated ARP-14A, or simply ARP-14, until another on that chromosome was found. The symbol adopted at HGM6 (Oslo) called for D (for DNA), then the chromosome number, then S for segment, and 1 for the first such identified on chromosome 14: D14S1. {3:De Martinville et al. (1982)} assigned the polymorphism to chromosome 14 in the q21-qter region. At least 8 alleles were demonstrated. {1:Balazs et al. (1982)} concluded that D14S1 maps to the subtelomeric region of 14q, 14q32, in close proximity to the IGH-CG1 locus ({6:Kirsch et al., 1982}). The conclusion was based on 3 independent lines of evidence: gene dosage, somatic cell hybrid studies, and pedigree analysis. It is probably significant that the highly polymorphic D14S1 'locus' is in the same region where much somatic rearrangement goes on during differentiation of immunoglobulin-producing B lymphocytes, specifically in 'class switch', and where the break occurs in the generation of de novo translocations in lymphatic malignancies. GM73 and GM74 (otherwise known as KOP) were used in the gene dosage studies and in cell hybrid studies. (KOP cell lines, carrying an X;14 translocation, were used by {8:Ricciuti and Ruddle (1973)} in the mapping of X-chromosome loci.) They studied 13 pedigrees segregating for Gm variants at the gamma-1 locus. A recombination fraction of 3.1%, with a 90% fiducial limit for the upper recombination value of 11.5%, was found. The data were consistent with the generally held estimate that one unit of meiotic recombination corresponds to about 1 million basepairs. By in situ hybridization, {4:Donlon et al. (1983)} assigned D14S1 to 14q32.1-q32.2." +107800,"Although arcus may be a manifestation of a disorder of lipid metabolism, it is likely that this is by no means always the case. {2:MacAraeg et al. (1968)} showed that arcus corneae occurs in higher frequency and develops at an earlier age in blacks than in whites. They could not relate it to diastolic hypertension, myocardial infarction, or cerebrovascular accidents. Arcus corneae develops precociously in Tangier disease (HDLDT1; {205400}), Norum disease, and in homozygotes for type II hyperlipoproteinemia. In osteogenesis imperfecta a ring resembling arcus is seen. The Kayser-Fleischer ring of Wilson disease ({277900}) bears some similarity.\n\nIn England, {4:Winder et al. (1998)} attempted to quantitate relationships between hyperlipidemia and increased cardiovascular risk through determination of the graded prevalence of corneal arcus with age for 81 males and 73 females suffering from heterozygous familial hypercholesterolemia (FHC; {143890}) at presentation, and for 280 male and 353 female unselected patients (age range, 16 to 76 years) attending a country general practice. Some degree of arcus affected 50% of FHC patients by age 31 to 35 years, and 50% of practice patients by age 41 to 45 years. Complete full-ring arcus affected 50% of the FHC group by age 50 years, with only 5% similarly affected in the non-FHC group. Arcus grade with age was advanced by some 5 years in males versus females. Premature arcus potentially alerting to FHC could be broadly defined for males and females combined, as heavy full ring by age 50 years, or any degree of arcus by age 30 to 35 years. Arcus grade was not related to the presence of coronary disease.\n\n{3:Vurgese et al. (2011)} investigated the prevalence of corneal arcus and its associations in Central India. Mean body mass index (BMI) was 19.8 kg/m2 with 41.3% of subjects being underweight (BMI less than 18.5 kg/m2). Corneal arcus to any degree was detected in 10.7% of subjects. Corneal arcus was significantly associated with increasing age. It was not significantly (all P greater than 0.10) associated with serum concentrations of high-density lipoproteins, cholesterol, creatinine, glucose, and glycosylated hemoglobin; with prevalence of arterial hypertension and diabetes mellitus; with body height, weight, and BMI; or with level of education, daily activities, nutrition, alcohol consumption, smoking, or blood pressure. In an intereye comparison, corneal arcus was significantly more marked in the eye with the lower intraocular pressure, thinner central cornea, and more hyperopic refractive error. {3:Vurgese et al. (2011)} concluded that in this Central Indian population with low BMI, the only systemic parameter associated with corneal arcus was increasing age." +107850,"If in folding his arms the right arm is on top, the person is classed R. Hand clasping ({139800}) is a comparable trait. {1:Falk and Ayala (1971)} concluded that, although both traits are heritable to a significant extent, a simple mendelian hypothesis is not tenable. {2:Ferronato et al. (1974)} found no significant correlation between parents and children for arm folding preference, i.e., right arm or left arm on top." +107900,"Twelve cases of short, absent or partially fused radius and ulna and abnormalities of the digits were found in 3 generations by {1:Stiles and Dougan (1940)}." +107970,"Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. It is inherited in an autosomal dominant manner with reduced penetrance and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the Uhl anomaly ('parchment right ventricle'). The presenting finding is usually recurrent, sustained ventricular tachycardia with left bundle branch block configuration. {2:Basso et al. (2009)} provided a detailed review of ARVD, including diagnosis, pathogenesis, treatment options, and genetics.\n\n<Subhead> Genetic Heterogeneity of Familial Arrhythmogenic Right Ventricular Dysplasia\n\nOther forms of ARVD include ARVD2 ({600996}), caused by mutation in the RYR2 gene ({180902}) on chromosome 1q42-q43; ARVD3 ({602086}), mapped to chromosome 14q12-q22; ARVD4 ({602087}), mapped to chromosome 2q32.1-q32.3; ARVD5 ({604400}), caused by mutation in the TMEM43 gene ({612048}) on chromosome 3p23; ARVD6 ({604401}), mapped to chromosome 10p14-p12; ARVD8 ({607450}), caused by mutation in the DSP gene ({125647}) on chromosome 6p24; ARVD9 ({609040}), caused by mutation in the PKP2 gene ({602861}) on chromosome 12p11; ARVD10 ({610193}), caused by mutation in the DSG2 ({125671}) on chromosome 18q12; ARVD11 ({610476}), caused by mutation in the DSC2 gene ({125645}) on chromosome 18q12.1; ARVD12 ({611528}), caused by mutation in the JUP gene ({173325}) on chromosome 17q21; ARVD13 ({615616}), caused by mutation in the CTNNA3 gene ({607667}) on chromosome 10q21; and ARVD14 ({618920}), caused by mutation in the CDH2 gene ({114020}) on chromosome 18q12.\n\nARVD7 is a former designation for a form of myopathy and ARVD mapped to chromosome 10q22, which was later found to be a form of myofibrillar myopathy (MFM1; {601419}) caused by mutation in the DES gene ({125660}) on chromosome 2q35.\n\n{7:Christensen et al. (2010)} screened 65 ARVD probands for mutations in 5 desmosomal genes as well as the TGFB3 gene ({190230}), and identified 19 different mutations in the desmosomal genes in 12 of the families, including 7 with more than 1 mutation. In 6 families, digenic mutation carriers were identified, with at least 1 of the mutations being absent in the control population. The authors stated that their findings partially supported a gene dosage effect, although phenotypic variation was large.\n\n{19:Nitoiu et al. (2014)} reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSP, PKP2, DSG2, DSC2, and JUP genes." +108000,"{2:Gates (1946)} cited a family in which the grandfather showed bilaterally a radial artery that passed over the supinator longus muscle 3 to 4 cm above the wrist and ran over the radial extensors above the styloid process. All his children were said to have the same anomaly on the left side. Among his grandchildren the anomaly was found on both sides in 4, on one side in 4, and on neither side in 7. {1:Barbosa Sueiro (1933-34)} described the case of a man in whom the ulnar artery on the left arm ran along the medial border of the biceps, arising by precocious bifurcation of the branchial artery. There was also a superficial right interosseous artery. The latter condition was present also in the father and a brother and the former condition in the 2 brothers.\n\n{3:Schneck (1879)} described the Brown family in which 15 of 22 members of 3 generations showed an abnormal course of 1 or both radial arteries. Out of 44 arteries, the same abnormal course was taken 19 times. Both arteries were abnormal in 4 individuals; both were normal in 7. The right only was abnormal twice and the left only was abnormal 9 times. The artery took the usual course until within 3 to 4 cm of the wrist, according to the length of the arm, when suddenly it turned backwards over the supinator longus muscle, passing on the outside of the extensor tendons of the thumb and above the styloid process of the radius, thence behind the thumb into the palm, to form the palmar arch. Persons marrying into the family all showed radial arteries. This was clearly the family cited by {2:Gates (1946)}." +108010,"Arteriovenous malformations of the brain are tortuous, morphologically abnormal vascular channels between arteries and veins that lack an intervening capillary network, allowing high-pressure arterial blood from feeding arteries to shunt directly into the venous outflow system. These vascular malformations occur in approximately 15 per 100,000 persons and are a leading cause of hemorrhagic stroke in young adults and children (summary by {6:Nikolaev et al., 2018})." +108120,"In general, the distal arthrogryposes are a group of disorders characterized by contractures mainly involving the distal parts of the limbs. The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. Contractures at other joints are variable; there are no associated visceral anomalies, and intelligence is normal. {1:Bamshad et al. (1996)} revised the classification by {11:Hall et al. (1982)} of the common mendelian arthrogryposis syndromes. The various phenotypic forms of distal arthrogryposis are classified hierarchically according to the proportion of features they share with one another and are designated DA1 through DA10 (summary by {3:Bamshad et al., 2009}).\n\nThe prototypic distal arthrogryposis is type 1 (DA1), which is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. While the pattern of affected joints is consistent, the degree to which the joints are affected is highly variable, with equinovarus deformities ranging from mild to severe and hand involvement ranging from isolated hypoplasia of the distal interphalangeal crease of the fifth digit to severely clenched fists and ulnar deviation of the wrist (summary by {2:Bamshad et al., 1996}). Classically, DA was defined as being without overt neurologic or muscle disease ({17:Lin et al., 1977} and {11:Hall et al., 1982}), although more recent evidence suggests that DA1A results from muscle dysfunction ({21:Robinson et al., 2007}; {19:Mokbel et al., 2013}; {8:Davidson et al., 2013}) (summary by {3:Bamshad et al., 2009}).\n\nThe congenital contractures in distal arthrogryposis type 2B (Sheldon-Hall syndrome; see {601680}) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by {3:Bamshad et al., 2009}).\n\nA review of patients diagnosed with DA1 or DA2B by {6:Beck et al. (2013)} found that the same mutation caused DA1 in some families and DA2B in others. There were no significant differences among the clinical characteristics of DA by locus or between each locus and DA1 or DA2B. The authors suggested that DA1 and DA2B might represent phenotypic extremes of the same disorder.\n\n<Subhead> Genetic Heterogeneity of Distal Arthrogryposes\n\nOther forms of distal arthrogryposis include DA1B ({614335}), caused by mutation in the MYBPC1 gene ({160794}) on chromosome 12q23; DA1C ({619110}), caused by mutation in the MYLPF gene ({617378}) on chromosome 16p11; DA2A (Freeman-Sheldon syndrome, {193700}), caused by mutation in the MYH3 gene ({160720}) on chromosome 17p13; DA2B1 ({601680}), caused by mutation in the TNNI2 gene ({191043}) on 11p15; DA2B2 ({618435}), caused by mutation in the TNNT3 gene ({600692}) on chromosome 11p15; DA2B3 ({618436}), caused by mutation in the MYH3 gene ({160720}) on chromosome 17p13; DA3 (Gordon syndrome, {114300}) and DA5 ({108145}), caused by mutation in the PIEZO2 gene ({613629}) on chromosome 18p11; DA4 ({609128}), which has not been mapped; DA5D ({615065}), caused by mutation in the ECEL1 gene ({605896}) on chromosome 2q36; DA6 ({108200}); DA7 ({158300}), caused by mutation in the MYH8 gene ({160741}) on chromosome 17p13.1; DA9 ({121050}), caused by mutation in the FBN2 gene ({612570}) on chromosome 5q23; and DA10 ({187370}), which maps to chromosome 2q.\n\nDistal arthrogryposis-8 (DA8) has been reclassified as contractures, pterygia, and variable skeletal fusions syndrome-1A (CPSKF1A; {178110}).\n\nSee {277720} for discussion of a possible autosomal recessive form of DA2A. See {208155} for a description of Illum syndrome, which includes 'whistling face,' central nervous system dysfunction, and calcium deposition in central nervous system and muscle.\n\nThere are other forms of arthrogryposis multiplex congenita (AMC), including a lethal congenital form (see LCCS1, {253310})." +108145,"Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by {4:Bamshad et al., 2009}).\n\nThere are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS; {248700}), which are distinguished by the presence of cleft palate and mental retardation, respectively. {14:McMillin et al. (2014)} suggested that the 3 disorders might represent variable expressivity of the same condition.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A ({108120}).\n\n<Subhead> Genetic Heterogeneity of Distal Arthrogryposis 5\n\nA subtype of DA5 due to mutation in the ECEL1 gene ({605896}) on chromosome 2q36 has been designated DA5D ({615065}). See NOMENCLATURE." +108200,"Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness (summary by {2:Bamshad et al., 2009}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 ({108120})." +108300,"Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. Additional findings may include midline clefting (cleft palate or bifid uvula), Pierre Robin sequence, flat midface, sensorineural or conductive hearing loss, mild spondyloepiphyseal dysplasia, and early-onset osteoarthritis (summary by {7:Baker et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Stickler Syndrome\n\nSee {609508} for a form of Stickler syndrome type I that is solely or predominantly ocular and is also caused by mutation in the COL2A1 gene. Stickler syndrome type II (STL2; {604841}), sometimes called the beaded vitreous type, is caused by mutation in the COL11A1 gene ({120280}) on chromosome 1p21. These forms of Stickler syndrome are autosomal dominant.\n\nAutosomal recessive forms of Stickler syndrome include Stickler syndrome type IV (STL4; {614134}), caused by mutation in the COL9A1 gene ({120210}) on chromosome 6q13, and Stickler syndrome type V (STL5; {614284}), caused by mutation in the COL9A2 gene ({120260}) on chromosome 1p34.\n\nA disorder previously designated Stickler syndrome type III (STL3), or 'nonocular Stickler syndrome,' has been reclassified as a form of otospondylomegaepiphyseal dysplasia (OSMEDA; {184840})." +108320,"Eating an artichoke (Cynara scolymus) makes water taste sweet in some subjects. {1:Bartoshuk et al. (1972)} encountered 6 males who failed to show the effect. They commented that whether the insensitivity to the effect has a genetic basis is unknown. The effect is induced by a temporary alteration in the tongue. {2:Blakeslee (1935)} reported that at the AAAS biologists' dinner in 1934, water tasted sweet to 60% of the nearly 250 persons present after eating artichokes as the salad course." +108420,"Spermatogenic failure-2 (SPGF2) is characterized by male infertility due to azoospermia ({14:Tang et al., 2020}; {1:Akbari et al., 2021}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +108450,"{1:Jung and Smith (1980)} described mother and daughter with asymmetric short stature associated with craniofacial, ocular, and skeletal anomalies. The mother was 132 cm tall; the daughter was 82 cm tall at 3.5 years of age (-4 SD). Both showed mild frontal bossing, small almost beaked nose, mandibular hypoplasia with dental crowding, esotropia, and hyperopia. The right leg was shorter than the left with pelvic tilt and lumbar scoliosis. Fusion and atypicality of cervical vertebrae, carpal bones and ribs were shown in the mother by radiographs. Intelligence was normal. This was the mother's only pregnancy; there was no increased incidence of abortion to suggest X-linked dominance with lethality in the hemizygous male. The disorder could be confused with Russell-Silver syndrome ({180860}) or Hallermann-Streiff syndrome ({234100}). Asymmetric short stature and facial anomalies including small nose occur also with chondrodysplasia punctata ({118650})." +108500,"Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA ({9:Jen et al., 2007}).\n\nFor a discussion of genetic heterogeneity of episodic ataxia, see EA1 ({160120})." +108600,"Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with onset between the ages of 10 and 20 years. Other clinical features are supranuclear gaze palsy, hyperreflexia, hypertonicity, dystonia, pes cavus, mild ptosis, and decreased vibration sense in the lower limbs. Symptom severity is variable, but neither lipfe span nor cognition is affected (summary by {7:Meijer et al., 2002} and {2:Bourassa et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Spastic Ataxia\n\nSee also SPAX2 ({611302}), caused by mutation in the KIF1C gene ({603060}) on chromosome 17p13; SPAX3 ({611390}), caused by rearrangements of the MARS2 gene ({609728}) on chromosome 2q33; SPAX4 ({613672}), caused by mutation in the MTPAP gene ({613669}) on chromosome 10p11; SPAX5 ({614487}), caused by mutation in the AFG3L2 gene ({604581}) on chromosome 18p11; SPAX6 ({270550}), caused by mutation in the SACS gene ({604490}) on chromosome 13q12; SPAX7 ({108650}); SPAX8 ({617560}), caused by mutation in the NKX6-2 gene ({605955}) on chromosome 8q21; and SPAX9 ({618438}), caused by mutation in the CHP1 gene ({606988}) on chromosome 15q15." +108650,"For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 ({108600})." +108700,{1:Singh and Sham (1964)} described autosomal dominant inheritance of progressive ataxia associated with persistent fasciculations of the muscles of the limbs. Members of 4 sibships in 3 generations were affected. +108720,"Atelosteogenesis is the name given by {6:Maroteaux et al. (1982)} to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. {8:Rimoin et al. (1980)} termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees ({3:Jeon et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Atelosteogenesis\n\nAtelosteogenesis type II (AO2; {256050}) is caused by mutation in the SLC26A2 gene ({606718}) on chromosome 5q32. AO3 ({108721}) is also caused by mutation in the FLNB gene ({603381})." +108721,"Atelosteogenesis type III (AO3) is an autosomal dominant skeletal dysplasia with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones, and joint dislocations. Craniofacial abnormalities, vertebral fusions, and carpal, tarsal, and phalangeal abnormalities are present ({1:Krakow et al., 2004}). There is considerable phenotypic overlap with AO1 ({108720}), but patients with AO3 have less delay in normal ossification, with better ossification of vertebrae, fibulae, metacarpals, and phalanges. Infants with AO3 often have respiratory and feeding difficulties, and respiratory complications and cervical spine instability are the apparent causes of death in reported cases (summary by {3:Schultz et al., 1999})." +108725,"The atherogenic lipoprotein phenotype (ALP) is a common heritable trait characterized by a preponderance of small, dense low density lipoprotein (LDL) particles (subclass pattern B), increased levels of triglyceride-rich lipoproteins, reduction in high density lipoprotein, and a 3-fold increased risk of myocardial infarction (summary by {5:Nishina et al., 1992}).\n\nThe so-called atherogenic lipoprotein phenotype was shown by {2:Austin et al. (1988)} to be independently associated with an increased risk for coronary artery disease. {1:Allayee et al. (1998)} concluded, furthermore, that there is a genetically based association between familial combined hyperlipidemia (FCHL; {144250}) and small, dense LDL particles and that the genetic determinants for LDL particle size are shared, at least in part, among FCHL families and the more general population at risk for coronary artery disease. {3:Juo et al. (1998)} concluded from a bivariate segregation analysis of small, dense LDL particles and elevated apolipoprotein B levels (APOB; {107730}), which are commonly found together in members of FCHL families, that the 2 traits share a common major gene plus individual polygenic components. The common major gene was estimated to explain 37% of the variance of adjusted LDL particle size and 23% of the variance of adjusted apoB levels." +108770,"Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by {3:Fazelifar et al., 2005})." +108800,"Secundum atrial septal defect (ASD) is a common congenital heart malformation that occurs as an isolated anomaly in 10% of individuals with congenital heart disease. Uncorrected ASD can cause pulmonary overcirculation, right heart volume overload, and premature death (summary by {1:Benson et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Atrial Septal Defect\n\nThe ASD1 locus has been mapped to chromosome 5p. Other forms of atrial septal defect that are associated with other congenital heart disease but no conduction defects or noncardiac abnormalities include ASD2 ({607941}), caused by mutation in the GATA4 gene ({600576}), and ASD4 ({611363}), caused by mutation in the TBX20 gene ({606061}). ASD3 ({614089}) and ASD5 ({612794}), in which atrial septal defect is not associated with other cardiac abnormalities, are caused by mutation in the MYH6 ({160710}) and ACTC1 ({102540}) genes, respectively. ASD6 ({613087}), in which atrial septal defect may be associated with aneurysm of the interatrial septum and cardiac arrhythmias, is caused by mutation in the TLL1 gene ({606742}). ASD7 ({108900}), in which ASD is often associated with atrioventricular conduction defects, is caused by mutation in the NKX2-5 gene ({600584}). ASD8 ({614433}), in which ASD may be associated with other cardiac anomalies, is caused by mutation in the CITED2 gene ({602937}). ASD9 ({614475}) is caused by mutation in the GATA6 gene ({601656}).\n\nSomatic mutations in the HAND1 gene ({602406}) have been identified in tissue samples from patients with ASDs." +108950,"{1:Brodsky et al. (1977)} described a family in which a short PR interval in the electrocardiogram occurred in members in 3 generations with male-to-male transmission. Several members of the family with short PR had paroxysmal or chronic atrial fibrillation or paroxysmal atrial tachycardia from an early age. Five members of the family had short PR intervals but had not yet shown tachyarrhythmia. The proband, aged 18, had left ventricular dysfunction during paroxysmal atrial tachycardia. Both were reversed with administration of digoxin and propranolol. This condition may represent a variant of the Lown-Ganong-Levine syndrome; several affected relatives were described but not studied extensively in the original report ({3:Lown et al., 1952}). Noting the evidence for genetic factors in atrioventricular conduction time ({108980}), one wonders whether the affected persons in the family of {1:Brodsky et al. (1977)} represented a 'tail' of the distribution for a multifactorial trait. Two families with multiple generations affected by late-onset, chronic atrial fibrillation in the absence of organic heart disease may represent a related disorder ({2:Gould, 1957}; {4:Phair, 1963}). The Wolff-Parkinson-White syndrome ({194200}) is another syndrome of short PR interval with proneness to supraventricular tachycardia." +108980,"The PR (or PQ) interval is the time required for an electrical impulse to travel from the atrial myocardium adjacent to the sinus node through the atrioventricular node (AVN) to the Purkinje fibers. Delayed conduction results in prolongation of the PR interval and subsequent risk of atrial fibrillation (summary by {4:Holm et al., 2010}). The PR interval has a substantial heritable component, with heritability estimates ranging between 30 and 50%. The PR interval is considered an intermediate phenotype for atrial fibrillation, as alterations in atrial action potential duration and in atrioventricular conduction influence both PR interval and atrial fibrillation risk (summary by {7:Pfeufer et al., 2010})." +108985,"Sveinsson chorioretinal atrophy (SCRA) is characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress at a variable rate, sometimes leading to central visual loss. Separate small distinct circular atrophic lesions are observed in the peripheral ocular fundus in some patients. Congenital anterior polar cataracts are found in approximately 25% of affected individuals (summary by {4:Jonasson et al., 2007})." +109050,"{1:Kurczynski and Casperson (1988)} described a new craniosynostosis syndrome inherited apparently as an autosomal dominant. Associated with the craniosynostosis were characteristic pinnae, a short columella, and symmetric syndactyly of toes 4 and 5. Three males and a female in 1 generation and the daughter of the female in the next generation were affected. Two of the brothers had craniectomies and developed mild mental retardation and hearing loss. The third affected brother died of congenital heart disease in infancy. The father of these 4 affected sibs and some of his sibs were said to have similar head shapes but none ever sought medical evaluation." +109130,"Axial osteomalacia is a rare osteosclerotic disorder first described by {1:Frame et al. (1961)}. Characteristically, trabecular bone has 'a unique coarsening and spongelike appearance in the x-rays of the axial skeleton.' Radiographically, the skull and appendicular skeleton are normal. Vague chronic axial skeletal pain is the presenting symptom in most patients. Despite osteosclerosis and normal circulating levels of calcium, inorganic phosphate and alkaline phosphatase, bone biopsy specimens show osteomalacia. Until the report of {2:Whyte et al. (1981)}, 10 cases had been described, all in middle-aged or elderly white men. {2:Whyte et al. (1981)} showed that it can occur in blacks, in females, in family clusters, and in association with polycystic kidney and liver disease. They reported affected mother and son. The son, who showed x-ray changes as early as age 22, had an unexplained myopathy characterized by proximal weakness, persistently elevated circulating creatine phosphokinase levels, and myopathic changes on muscle biopsy. The authors suggested that this is a disorder of vitamin D action. (Muscular weakness is conspicuous also in vitamin D deficiency.) It may be a pleiotropic disorder with polycystic kidney as a feature. This may be the same disorder as that described elsewhere under the designation osteomesopyknosis ({166450})." +109150,"Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.\n\nThree classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy ({27:Franca et al., 2008})." +109160,"{1:Hsu et al. (1978)} described a family in which 6 persons in 3 generations had elevated serum urea with normal creatine levels, renal biopsy and all measures of renal function except urea clearance. Urea is both filtered at the glomerulus and actively secreted by the proximal tubule ({2:Kawamura and Kokko, 1976}). Furthermore, urea is reabsorbed actively by the tubule; this process is apparently brought into play particularly in states of low protein intake. Net reabsorption might be due to exaggerated active reabsorption or to deficient secretion. Whatever the precise nature of the defect, it appeared to be inherited as an autosomal dominant. Four instances of father-to-son transmission were demonstrated." +109180,"Baboon M7 xenotropic (type C) virus infects human cells but not Chinese hamster cells. By human-hamster cell hybrids, {1:Brown et al. (1978)} showed that this behavior of human cells requires chromosome 19. Thus, several virus susceptibilities have been related to chromosome 19; see poliovirus sensitivity ({173850}) and Echo 11 sensitivity ({129150}). Contradictory findings were reported by {3:Lemons et al. (1977)}, who assigned the locus to chromosome 6. {3:Lemons et al. (1977)} referred to the locus as 'Bevi' for 'baboon endogenous virus infection', but it can equally well stand for 'baboon endogenous virus integration' because {2:Lemons et al. (1978)} presented evidence that 'Bevi' is the preferred proviral integration site in the human genome. It was the conclusion of the fifth Human Gene Mapping Workshop in Edinburgh (1979) that BEVI is on chromosome 6, but that chromosome 19 carries a locus, symbolized M7V1, which is essential to replication of the baboon virus (see {109190})." +109200,"Androgenetic alopecia is characterized by a loss of hair from the scalp that follows a defined pattern ({6:Hamilton, 1951}). It occurs in women as well as in men. It is caused by a shortening of the anagen (growth) phase and miniaturization of the hair follicle, which results in the formation of progressively thinner, shorter hair ({1:Bergfeld, 1995}). In men, the condition is often referred to as male pattern baldness (MPB) and appears to be androgen-dependent ({5:Hamilton, 1942}). The condition is hereditary, and follows a pattern that may be consistent with an autosomal dominant trait ({10:Osborn, 1916}).\n\nLinkage evidence for an autosomal locus on 3q26 (AGA1) has been identified ({7:Hillmer et al., 2008}). See {300710} (AGA2) for a discussion of X linkage of androgenetic alopecia. A third locus has been found on chromosome 20p11 (AGA3; {612421})." +109300,"{1:Banki (1965)} described a Hungarian family in which members of 3 generations showed fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appears to represent a unique dominant mutation." +109350,"Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia ({614266}), a premalignant lesion of the esophageal mucosa ({3:Hu et al., 2000}). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see {614266}), estimated as the fifth most prevalent neoplasia in the Western world ({4:Lagergren et al., 1999})." +109400,"The basal cell nevus syndrome (BCNS) is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keatocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesentreic cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by {56:Koch et al., 2002})." +109500,"Primary basilar impression of the skull is a developmental defect of the cranium in which there is invagination of the foramen magnum upward into the posterior cranial fossa. Basilar impression is often associated with other malformations of the notochord and craniovertebral junction, such as occipitalization of the atlas, Klippel-Feil anomaly (see {118100}), Chiari type I malformation ({118420}), and syringomyelia ({186700}) ({9:Paradis and Sax, 1972}; {1:Bhangoo and Crockard, 1999}). Secondary basilar impression occurs as a result of generalized skeletal diseases, including hyperparathyroidism (see {145000}), Paget disease (see {167250}), and osteogenesis imperfecta (see, e.g., {166200}).\n\nPlatybasia refers to a skull base with an abnormally obtuse angle between the planes of the clivus and the anterior fossa. Platybasia may occur in basilar impression, but it is not of medical significance on its own ({1:Bhangoo and Crockard, 1999}).\n\nHistorically, basilar impression was defined radiologically by numerous parameters, including the lines defined by {4:Chamberlain (1939)}, {7:McGregor (1948)}, and {5:Fischgold and Metzger (1952)}, and the angle defined by {3:Bull et al. (1955)}." +109540,"B-cell growth factor is released by T lymphocytes after either lectin or antigen stimulation as a protein of Mr 12,000-14,000. {1:Sahasrabuddhe et al. (1984)} demonstrated that this relatively small molecule is derived from a precursor molecule of Mr 60,000-80,000 which exists in an intracytoplasmic pool in the T cells." +109543,"For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}." +109600,"Beeturia is the urinary excretion of beet pigment (betacyanin) after oral ingestion of beets. {1:Allison and McWhirter (1956)} suggested that the trait is unifactorial and polymorphic. They concluded that 'nonexcreter' is dominant to 'excreter.' {5:Penrose (1957)} challenged this idea. {7:Watson et al. (1963)} found beeturia in 14% of the general population, but in 80% of iron-deficient subjects. They suggested that iron and betacyanin may compete for an intestinal mucosal acceptor substance, perhaps apoferritin. Thus, iron deficiency interferes with the usefulness of beeturia as a genetic trait.\n\n{2:Eastwood and Nyhlin (1995)} showed that betalaine is decolorized by hydrochloric acid, ferric ions, and colonic bacteria but not by pancreatic or mucosal enzymes. Oral betalaine together with oxalic acid produced beeturia in non-beeturic individuals. The authors concluded that beeturia results from colonic absorption of betalaine." +109660,"{2:Connolly et al. (1979)} stated that urinary taurine excretion values show three modes in normals, consistent with a polymorphic codominant 2-allele system regulating renal reabsorption. They estimated frequencies of 0.35 and 0.65 for the high and low reabsorption, respectively. Beta-alanine competitively inhibits reabsorption of taurine and BAIB (beta-aminoisobutyric acid; see {210100}). Thus, the postulated system is probably homologous to the beta-amino acid renal transport system found in mice and rats. Taurine excretion is, on the average, low in the Down syndrome, suggesting to {2:Connolly et al. (1979)} that the gene encoding this system is on human chromosome 21. At HGM6 (Oslo, 1981), a tentative assignment of a locus for this function to chromosome 21 was made on the basis of dosage effect in Down syndrome. {3:Goodman (1981)} concluded that a polymorphic codominant pair of alleles, symbolized T(R) and T(S), for rapid and slow uptake of taurine, are the prime regulators of taurine reabsorption at the renal level. The subtlety of the difference (only about 20% in reabsorption between the two homozygous genotypes) makes taurine loading essential to rigorous demonstration. In Down syndrome subjects, four genotypes occur in frequencies suggesting that the gene is on chromosome 21. A correlation between primary taurine excretion and IQ in Down syndrome was observed by {5:Thomas et al. (1965)}. Thus, the same variability in uptake may occur in brain cells. {4:Goodman et al. (1980)} claimed that taurine metabolism may be important in epilepsy. Taurine, like gamma-aminobutyric acid (GABA), is probably neuroinhibitory and serves a role in modulation of neurotransmission ({1:Barbeau and Huxtable, 1978}). Taurine accounts for more than half of the total free amino acids in brain and platelet. Variability in platelet taurine may be a useful way to examine this polymorphism. {3:Goodman (1981)} estimated that the frequency of the rapid absorption gene is about 0.338." +109670,"{1:McSwigan et al. (1981)} suggested that chromosome 21 may carry genetic information involved in regulation of the beta-adrenergic response of human fibroblasts. They based this conclusion on the finding of a 10-fold greater response to beta-adrenergic agonists (as monitored by intracellular cyclic AMP accumulation) in cultured fibroblasts from Down syndrome patients than that in either normal diploid skin fibroblasts or other aneusomic fibroblasts (trisomy 13, 18, 22). No peculiarity of response was observed with prostaglandin E1 or cholera toxin. Monosomy 21 cells responded less than normal diploid fibroblasts to stimulation by the beta-adrenergic agonist isoproterenol." +109720,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {8:Kaplan, 1996}).\n\n<Subhead> Genetic Heterogeneity of Primary Biliary Cirrhosis\n\nPrimary biliary cirrhosis-1 (PBC1) is significantly associated with SNPs at the IL12A locus ({161560}) on chromosome 3q25.33.\n\nSignificant association of PBC has also been shown with SNPs at the HLA-DQB1 locus ({604305}) on chromosome 6p21.3 (PBC2; {613007}), at the IL12RB2 locus ({601642}) on chromosome 1p31.2 (PBC3; {613008}), at the IRF5 ({607218})-TNPO3 ({610032}) locus on chromosome 7q32 (PBC4; {614220}), and at the ZPBP2 locus ({608499}) on chromosome 17q12-q21 (PBC5; {614221}).\n\nSee also Reynolds syndrome ({613471}), in which primary biliary cirrhosis is a feature." +109730,"Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets ({4:Cripe et al., 2004}). In 1 to 2% of the population a bicuspid aortic valve is present. Bicuspid aortic valve is frequently an antecedent to aortic valve stenosis or insufficiency. In extreme cases the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome ({241550}) ({6:Garg et al., 2005}). The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. Mutations in the signaling and transcription regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in nonsyndromic autosomal dominant human pedigrees.\n\n<Subhead> Genetic Heterogeneity of Aortic Valve Disease\n\nAlso see AOVD2 ({614823}), caused by mutation in the SMAD6 gene ({602931}) on chromosome 15q22, and AOVD3 ({618496}), caused by mutation in the ROBO4 gene ({607528}) on chromosome 11q24. There is evidence for additional genetic heterogeneity (see MAPPING)." +109900,"{3:Franceschetti (1955)} described the syndrome in father and daughter. Sagging eyelids and double upper lip are features. Nontoxic goiter is a variable feature.\n\n{4:Parmar and Muranjan (2004)} reported a 21-year-old male with double upper and lower lip, hypertelorism, unilateral ptosis, blepharophimosis, broad nose with broad nasal tip, highly arched palate, and bilateral third finger clinodactyly. The authors suggested that the features in this patient constituted a syndrome that was distinct from Ascher syndrome." +110000,"The outer portion of the upper lid is loose-skinned and pendulous. {2:Schulze (1965)} traced the condition through 6 generations with 11 males and 3 females affected. In minor form, this is sometimes called the Nordic type of eye fold. {1:Panneton (1936)} found the trait in 51 of 79 members of a French-Canadian family. Bismarck and Harold McMillan, German and British politicians, respectively, showed this condition." +110050,"{1:Pashayan et al. (1973)} described a family in which the mother and 3 children had telecanthus, lateral displacement of the lacrimal puncta, lacrimal excretory obstruction, bulky nose, masklike facies with weakness of facial muscles, torsion dystonia, and mental retardation. The affected children were 2 boys and a girl. Two sisters were unaffected.\n\n{3:Stoll et al. (1999)} described a 3-generation family with blepharonasofacial malformations suggestive of Pashayan syndrome. As in the family of {1:Pashayan et al. (1973)}, the pedigree was consistent with either autosomal dominant or X-linked dominant inheritance. The proband had a fleshy nose, a prominent nasal bridge, hypoplastic midface, telecanthus with temporal displacement of puncta, lacrimal excretory obstruction, CNS torsion dystonia, increased deep tendon reflexes, Babinski reflexes, poor coordination, and joint laxity. The child's mother, brother, and maternal grandfather also showed manifestations of the syndrome. The proband and his brother had delayed developmental milestones. Hearing impairment was present in the proband, his mother, and his grandfather, but was absent in the proband's brother. It was not possible to perform molecular studies to exclude the diagnosis of Waardenburg syndrome." +110100,"BPES syndrome includes a characteristic eyelid dysplasia, namely, small palpebral fissures (blepharophimosis), drooping eyelids (ptosis), and a tiny skin fold running inward and upward from the lower lid (epicanthus inversus). In type I BPES, the eyelid abnormalities are coinherited with ovarian failure; type II BPES consists of the eyelid defects only (summary by {9:Crisponi et al., 2001})." +110150,"{1:Gillum and Anderson (1982)} described a family in which a 72-year-old woman and 2 of her daughters showed blepharoptosis from birth, high grade myopia, and ectopia lentis, present in one of the daughters since at least age 4 years. The globes were abnormally long. The affected women showed abnormally high upper eyelid creases and good levator function--a combination indicative of levator aponeurosis disinsertion. The authors suggested that a connective tissue defect of sclera, zonules and levator aponeurosis was the common factor underlying the clinical features. The mother was 1 of 16 children of presumably unaffected parents and may have represented a new mutation." +110250,"{1:Rubinstein et al. (1973)} found a healthy blood donor with no anti-A in his serum despite the fact that his red cells typed as O. A maternal half brother, whose father was unrelated, lacked anti-B. The pedigree showed that the effect was due to dominant suppression of normal A1 and B genes. It is not certain that the suppressor is determined by a separate locus; as the authors indicated, there is precedence for mutation at the same locus (ABO) to be responsible. The authors favored a suppressor at the ABO locus. See {111150} for a Lutheran suppressor genetically independent of the Lutheran locus. See Bombay phenotype ({616754})." +110310,"From studies in cases of bone marrow transplantation, {1:Oriol et al. (1981)} concluded that there are 2 types of ABH antigens with different genetic determination, probable chemical structure, and cellular origin." +110350,"{1:Furuhjelm et al. (1972)} described a rare 'new' blood type, An(a). It apparently is a blood group system distinct from ABO, MNS, P, Rh, secretor, Duffy, Kidd and Dombrock. Genetic independence from Lutheran, Kell, Yt, Diego and Colton had not been established." +110720,"{1:Darnborough et al. (1969)} discovered a new antibody, anti-En(a), which reacted strongly with many cells tested, a total of 7000, but did not react with her own cells or those of 2 of her 8 sibs. The proposita, an English woman, was pregnant and had been transfused 2 years earlier. En of the notation stands for envelope; the authors summarized as follows: 'The reactions of various unrelated blood group antigens are modified, in some cases enhanced and in others depressed, the total picture being strongly reminiscent of the effects of proteolytic enzyme treatment. It is suggested that these effects can only be due to some factor affecting the red cell structure possibly by modifying the cell envelope.' Two further examples of En(a-) were found in Finland in unrelated persons. The great rarity of the phenotype is indicated by the fact that by 1975 only these 3 families had been discovered ({2:Race and Sanger, 1975}). The English case had parents from a small fishing port in Yorkshire. The parents of both Finnish probands were consanguineous. Because of the consanguinity, any locus for which the En(a-) persons were heterozygous cannot have been responsible for the En gene. Using this reasoning, ABO, MNSs, Rh, Duffy, Haptoglobin, Kidd, Gm, and Dombrock could be excluded ({2:Race and Sanger, 1975}). Although En is independent of MN, MN typing shows a profound derangement in En(a-) persons." +110800,"The i and I antigens of the I blood group system are carbohydrate structures carried on glycolipids and glycoproteins and are characterized as straight or branched glycochains composed of repeating N-acetyllactosamine (LacNAc) units, respectively. Conversion of i antigen into an I-active structure requires the activity of the I-branching enzyme, beta-1,6-N-acetylglucosaminyltransferase (GCNT2; {600429}), which adds the decisive GlcNAc-beta-1-6 branch onto the straight poly-LacNAc chains. Expression of the i and I antigens on red blood cells (RBCs) is reciprocal and developmentally regulated. Adult human RBCs predominantly express I antigen, whereas fetal and neonatal RBCs predominantly express i antigen. After birth, I antigen levels increase gradually as i antigen levels fall, with the normal Ii status of adult RBCs reached after about 13 to 20 months. Mutations that specifically affect 1 of the 3 variants produced by the GCNT2 gene cause the rare adult i phenotype, in which adult RBCs are rich in i antigen and contain low levels of I antigen. Mutations that eliminate all 3 GCNT2 variants cause the adult i phenotype with congenital cataract (CTRCT13; {116700}) (review by {10:Yu and Lin, 2011})." +111130,"{1:Whitehouse et al. (1988)} studied the family of the fourth human example of anti-LKE (originally called Luke) and excluded close linkage to MNS, Rh, HLA, PI, Gm, and C6. They also showed that LKE is genetically independent of P1, K, Xg, Au, Se, and C3." +111150,"The Lutheran inhibitor blood group phenotype (In(Lu)) is characterized phenotypically by the apparent absence of the Lu antigen (BCAM; {612773}) on red blood cells during serologic tests, i.e., Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {9:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene.\n\nThe Lu-null phenotype, or autosomal recessive true Lu(a-b-) ({247420}), is caused by homozygous or compound heterozygous inactivating mutations in the BCAM gene." +111360,"{1:Lewis et al. (1984)} described a 'new' low incidence red cell antigen dubbed NFLD which was found in a Caucasian Newfoundland family under study because of the transmission of an inversion 3 chromosome. It was defined by a serum called Mess that contained multiple antibodies against many red cell antigens. The NFLD specificity was purified by absorption of the other specificities. The antigen is not part of the ABO, MNSs, Duffy, Kidd, or Yt blood group systems and probably does not belong to the Rh or Kell system." +112000,"In Finland {1:Furuhjelm et al. (1968)} found an antibody that tests for a previously unknown antigen called Ul(a). The antigen was present in 2.6% of Helsinki donors. Independence from Kell, Yt and Diego systems was not yet proved but it was independent of other systems. The Ul(a) locus may be within measurable distance of the ABO and adenylate kinase loci.\n\nData on gene frequencies of allelic variants were tabulated by {2:Roychoudhury and Nei (1988)}." +112240,"Cole-Carpenter syndrome is characterized by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features ({2:Cole and Carpenter, 1987}).\n\n<Subhead> Genetic Heterogeneity of Cole-Carpenter Syndrome\n\nCole-Carpenter syndrome-2 (CLCRP2; {616294}) is caused by mutation in the SEC24D gene ({607186})." +112250,"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. In 2 families, affected individuals also showed a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. Thus, the disorder may be considered a tumor predisposition syndrome (summary by {2:Camacho-Vanegas et al., 2012})." +112270,"{1:Reimann and Angelides (1951)} reported a kindred in which many members had episodic pain which the authors termed 'periodic arthralgia.' The kindred was studied further by {2:Thompson and Merritt (1974)}, who concluded that the pain was located in the shafts of the long bones. It was reminiscent of the pain of sickle cell anemia. No instance of male-to-male transmission was noted. Thirty-three persons in 7 generations were considered affected." +112310,"Bommerang dysplasia is a perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae (summary by {2:Bicknell et al., 2005})." +112350,"The diagnostic hallmarks of Weismann-Netter syndrome (WNS) are anterior bowing of the diaphyses of the tibia and fibula, broadening or 'tibialization' of the fibula, posterior cortical thickening of both bones, and short stature. The diaphyses of other long bones may be similarly affected, but usually to a milder degree. Some WNS patients have also displayed mental retardation (summary by {11:Peippo et al., 2009})." +112370,"{1:Halal and Silver (1992)} described the cases of 3 sibs (2 boys, 1 girl) and their father. The children had growth retardation, microcephaly, minor facial anomalies reminiscent of mild Brachmann-de Lange syndrome (BDLS; {122470}), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics. The father was thought to show some of the same features." +112410,"The hypertension and brachydactyly syndrome is characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and death from stroke before age 50 years when untreated (summary by {9:Maass et al., 2015})." +112440,"In 12 members of 4 generations, {3:Pitt and Williams (1985)} found a 'new' type of brachydactyly combining features of types B (see {113000}) and E ({113300}): hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of 1 or more metacarpals. The subjects were, however, not short of stature as in type E. Male-to-male transmission was noted in several instances. {3:Pitt and Williams (1985)} called this phenotype brachydactyly type Ballard after the name of the family.\n\n{2:Jensen and Hoo (2004)} described a family similar to that of {3:Pitt and Williams (1985)} but pointed out that both families resemble very much type E brachydactyly and were likely a variant form of that phenotype. In particular they considered the condition in both families to be compatible with the subtype E2 as suggested by {1:Hertzog (1968)}." +112450,"{1:Christian et al. (1972)} described short thumbs and first toes with abduction of these digits. The shortening involves the metacarpals, metatarsals, and distal phalanges, while the proximal and middle phalanges are of normal length. Although no male-to-male transmission was observed, males and females were affected to a similar degree. Four successive generations and 6 sibships were affected. All 8 affected members were mentally retarded. {3:Sharma et al. (1994)} described a father and daughter with the same form of brachydactyly but without mental retardation. The changes in the hands and feet were much like those reported by {2:Mononen et al. (1992)} (see {301940}), but {3:Sharma et al. (1994)} considered that to be a different entity because it showed missing phalanges, short stature, and epiphyseal and metaphyseal changes indicative of a skeletal dysplasia." +112500,"In the classification of the brachydactylies, the analysis by {1:Bell (1951)} proved highly useful. The type A brachydactylies of Bell have the shortening confined mainly to the middle phalanges. In the A1 type, the middle phalanges of all the digits are rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short.\n\n<Subhead> Genetic Heterogeneity of Brachydactyly Type A1\n\nBDA1B ({607004}) has been mapped to chromosome 5. BDA1C ({615072}) is caused by mutation in the GDF5 gene ({601146}) on chromosome 20q11. BDA1D ({616849}) is caused by mutation in the BMPR1B gene ({603248}) on chromosome 4q22." +112600,"Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by {11:Su et al., 2011})." +112910,"The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies (summary by {1:Opitz and Gilbert, 1985}).\n\nSee {602875} for a discussion of genetic heterogeneity of autosomal recessive acromesomelic dysplasia." +113000,"Type B1 brachydactyly (BDB1) is the most severe type of human brachydactyly, and shows high penetrance and variable expressivity. Hypoplastic or absent distal phalanges and nails of digits 2 through 5 in the hands and feet are cardinal phenotypic features of BDB1. The middle phalanges of digits 2 through 5 are usually short and may form a bony fusion with the corresponding hypoplastic distal phalanges. The deformed thumbs are often flat, broad, or bifid. A rarer feature of BDB1 is cutaneous syndactyly affecting both fingers and toes (summary by {10:Lv et al., 2009})." +113100,"The brachydactyly type C (BDC) phenotype includes brachymesophalangy of fingers 2, 3, and 5. The fourth finger is usually unaffected and thus appears as the longest finger of the hand. Shortening of metacarpal 1 and hyperphalangy in fingers 2 and 3 may occur and can be considered relatively characteristic signs. BDC can be highly variable, ranging from severely affected hands with very short fingers to mildly affected cases with only moderate brachydactyly, most often affecting the middle and proximal phalanges of fingers 2 and 3 (summary by {8:Lehmann et al., 2006})." +113200,"Type D brachydactyly is defined as a short, broad distal phalanx in the thumb (summary by {5:Johnson et al., 2003})." +113300,"Brachydactyly type E comprises one or more shortened metacarpals and metatarsals (summary by {7:Johnson et al., 2003}).\n\nAnother form of brachydactyly type E, BDE2 ({613382}), is caused by heterozygous mutation in the PTHLH gene ({168470}) on chromosome 12p11.\n\nAlso see the hypertension and brachydactyly syndrome ({112410})." +113301,"In a kindred in which multiple members had somewhat short stature, round facies, and brachydactyly type E ({113300}), {1:Czeizel and Goblyos (1989)} described also the appearance of the secundum type of atrial septal defect (ASD II). The shortening of the metacarpals was most pronounced in the 4th metacarpal, but not limited to that bone." +113310,"Ectrodactyly (split-hand/foot malformation) associated with fibular hypoplasia/aplasia is a rare disorder that appears to be inherited in an autosomal dominant fashion with reduced penetrance and variable expression ({2:Evans et al., 2002}).\n\nA form of fibular hypoplasia/aplasia associated with oligosyndactyly and tibial campomelia has been reported (FATCO syndrome; {246570}). Split-hand/foot malformation associated with tibial hypoplasia/aplasia has also been described (see SHFLD1, {119100})." +113400,"{1:Biemond (1934)} described a syndrome consisting of brachydactyly (due to one short metacarpal and metatarsal), nystagmus and cerebellar ataxia in 4 generations of a family. Mental deficiency and strabismus were also present. Only a few members of the family had the full syndrome. Additional families are needed before this combination can be considered a single gene syndrome." +113450,"{1:Sillence (1978)} described a kindred in which grandfather, mother and 3 granddaughters, i.e., 5 persons in 3 successive generations, had brachydactyly, distal symphalangism producing a distal phalanx with the shape of a chess pawn, scoliosis, and clubfoot. The disorder resembled type A1 brachydactyly ({112500}), but affected persons were tall. In another symphalangism-brachydactyly syndrome ({186500}), the symphalangism is proximal." +113470,{1:Langer et al. (1983)} reported a single case of a Japanese infant who died in the newborn period of cardiac and renal failure. X-rays showed bizarre deformities of the forearm and lower leg. The corneas were clouded and the kidneys enlarged. Renal biopsies showed glomerulocystic kidneys. A noncyanotic cardiac malformation was thought to be present. Autopsy was refused. The parents were apparently unrelated--mother aged 31 and father aged 36. +113475,"Before his death on December 1, 1964, J. B. S. Haldane, with A. K. Ray, prepared a paper describing short fourth metatarsus resulting in unilateral or bilateral short fourth toes identified in 206 persons in Northeastern India ({2:Ray and Haldane, 1965}). This was Haldane's only publication in an American journal ({1:Ray, 1989}). From a study of 61 pedigrees {2:Ray and Haldane (1965)} concluded that the trait is autosomal dominant with approximately 27% penetrance. The wearing of sandals facilitated the population survey. In an initial survey they found the trait in 3 unrelated men among 2,500 in Orissa. Although short terminal phalanx of the thumb was found in 3 of 117 persons with short fourth toes, 2 bilateral and 1 unilateral, there was apparently no instance of short metacarpals, thus indicating that the trait is distinct from type E brachydactyly ({113300})." +113480,"{1:Hunter et al. (1986)} described mother and son with identical facies (square forehead, telecanthus, flat nasal bridge, thin upper lip, 'smooth' philtrum), and marked brachytelephalangy. The son had Kallmann syndrome (see {147950})." +113500,"Type 3 brachyolmia (BCYM3) is an autosomal dominant skeletal dysplasia affecting the spine characterized by severe kyphoscoliosis and flattened, irregular cervical vertebrae (summary by {8:Rock et al., 2008}).\n\nFor a discussion of heterogeneity of brachyolmia, see {271530}." +113620,"Branchiooculofacial syndrome (BOFS) is characterized by branchial cleft sinus defects, ocular anomalies such as microphthalmia and lacrimal duct obstruction, a dysmorphic facial appearance including cleft or pseudocleft lip/palate, and autosomal dominant inheritance. Although anomalies of the external and middle ear frequently cause conductive hearing loss in BOFS, severe to profound sensorineural hearing loss due to inner ear anomalies has rarely been reported (summary by {23:Tekin et al., 2009}).\n\nSee also chromosome 6pter-p24 deletion syndrome ({612582}) for a similar phenotype. The deletion region lies telomeric to the TFAP2A gene." +113650,"Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed ({10:Fraser et al., 1978}).\n\n<Subhead> Genetic Heterogeneity of Branchiootorenal Syndrome\n\nSee also BOR2 ({610896}), caused by mutation in the SIX5 gene ({600963}) on chromosome 19q13. {31:Sanchez-Valle et al. (2010)} stated that approximately 40% of patients with BOR have mutations in the EYA1 gene and 5% have mutations in the SIX5 gene.\n\nSee also branchiootic (BO) syndrome-1 (BOS1; {602588}) and the otofaciocervical syndrome (OFC; {166780}), allelic disorders showing overlapping phenotypes but without renal anomalies. See also {600257} for a discussion of the BOR-Duane-hydrocephalus contiguous gene syndrome as described by {35:Vincent et al. (1994)}.\n\nAlthough {25:Melnick et al. (1978)} maintained that the BOR syndrome is distinct from the BO syndrome because in the latter condition renal anomaly is absent and deafness is not a constant feature, {6:Cremers and Fikkers-van Noord (1980)} concluded that the 2 syndromes are in fact a single entity." +113670,"Familial juvenile hypertrophy of the breast (JHB) is a rare condition characterized by gigantomastia in peripubertal females. The pathology is limited to the breast with otherwise normal growth and development (summary by {3:Genzer-Nir et al., 2010}).\n\nA syndrome has been described in which affected females display JHB in association with onychodystrophy/anonychia and abnormalities of the distal phalanges (ODP; see {106995}), whereas males have only ODP (mammary-digital-nail syndrome; {613689})." +113700,"Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia ({305100}) and Poland syndrome ({173800}) (summary by {4:Papadimitriou et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Aplasia or Hypoplasia of Breasts and/or Nipples\n\nAn autosomal recessive form of breast and/or nipple aplasia or hypoplasia (BNAH2; {616001}) is caused by mutation in the PTPRF gene ({179590}) on chromosome 1p34." +113721,"{1:Coles et al. (1990)} demonstrated loss of constitutional heterozygosity (LOH) at 17p13.3 in a large proportion of breast cancers. LOH was less frequent in band 17p13.1, which contains the TP53 gene ({191170}). There was no correlation between allele loss at the 2 sites on 17p. Nevertheless, loss of heterozygosity at 17p13.3 was associated with overexpression of p53 mRNA, suggesting to {1:Coles et al. (1990)} the existence of a gene some 20 megabases telomeric of TP53 that regulates its expression. Lesions of this regulatory gene seem to be involved in most breast cancers ({114480}).\n\n{2:Stack et al. (1995)} commented on the high frequency of LOH (50-75%) in the 17p13.3 region distal to TP53 in sporadic breast cancer and also the high frequency in a number of other malignancies including ovarian cancer, astrocytomas, bladder cancer, medulloblastoma, neuroectodermal cancer, and osteosarcoma. LOH was found to be independent of loss at the TP53 gene locus situated some 20 Mb proximal. {2:Stack et al. (1995)} investigated loss of heterozygosity in a panel of 40 sporadic breast tumor patients using 8 polymorphic markers which they had ordered within the 17p13.3 region by fluorescence in situ hybridization. Their findings demonstrated a region of high loss (60%) within distal 17p13.3, defined by markers D17S926, D17S695, and D17S849, which map close together. The study presented further evidence for the existence of a breast cancer suppressor locus distal to known genes within 17p13.3." +113750,"Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder, with a worldwide prevalence of approximately 1:17,000. It manifests as a reduction or complete loss of melanin in the skin, hair, and eyes, often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus (summary by {8:Wei et al., 2013}).\n\nFor a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 ({203100}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see SHEP1 ({227220})." +113800,"Epidermolytic hyperkeratosis (EHK), also termed bullous congenital ichthyosiform erythroderma (BCIE), is a keratinization disorder with an incidence of approximately 1 in 200,000 in the USA. The clinical phenotype of EHK is characterized by erythema and widespread formation of epidermal blisters developing at birth. Later in life, bullous erythema is replaced by progressive hyperkeratosis, involving thickening of the cornified layer of the epidermis (summary by {23:Muller et al., 2006}).\n\n{17:Goldsmith (1976)} used the designation of epidermolytic hyperkeratosis for the condition that is called bullous congenital ichthyosiform erythroderma (BCIE) when generalized, and ichthyosis hystrix (see {146600}) when localized. They are presumably distinct entities.\n\nA form of epidermolytic hyperkeratosis that is limited to the palms and soles, designated palmoplantar keratoderma (EPPK; {144200}), is caused by mutation in the keratin gene KRT9 ({607606}), and a mild form of EPPK can also be caused by mutation in KRT1." +113900,"Progressive familial heart block type I (PFHBI, PFHB1) is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart block ({4:Brink and Torrington, 1977}; {28:van der Merwe et al., 1986}; {29:van der Merwe et al., 1988}). It is defined on electrocardiogram by evidence of bundle branch disease, i.e., right bundle branch block, left anterior or posterior hemiblock, or complete heart block, with broad QRS complexes. Progression has been shown from a normal electrocardiogram to right bundle branch block and from the latter to complete heart block. These electrocardiographic features differentiate PFHB type I from progressive familial heart block type II (PFHBII, PFHB2; {140400}), in which the onset of complete heart block is associated with narrow complexes. Electrocardiographically the changes represent, respectively, bundle branch disease (PFHB1) and atrioventricular nodal disease with an atrioventricular block and an idionodal escape rhythm (PFHB2). PFHBI is manifested symptomatically when complete heart block supervenes, either with dyspnea, syncopal episodes, or sudden death. Treatment, which is best managed by regular electrocardiographic follow-up, is by the timely implantation of a pacemaker ({5:Brink et al., 1995}).\n\n<Subhead> Genetic Heterogeneity of Progressive Familial Heart Block Type I\n\nProgressive familial heart block type IB (PFHB1B; {604559}) is caused by mutation in the TRPM4 gene ({606936}) on chromosome 19q13.32." +113950,"{1:Esscher et al. (1975)} reported an entity with clear autosomal dominant inheritance that is probably distinct from the disorder in any of the families discussed in {113900}. They studied the families of 2 presumably unrelated children with isolated complete right bundle branch block and found that each showed several cases of classical complete right bundle branch block in 3 generations. Subsequently they discovered that both kindreds traced their ancestry to a glass-blower who immigrated to Sweden in the 1700s. Penetrance was somewhat reduced. Although no male-to-male transmission was demonstrated in the persons they studied, by inference it had occurred. The anomaly seems to have had no ill effects on physical capacity or life expectancy. Reports of 2 other families, both Italian, were referenced by {1:Esscher et al. (1975)}." +113955,{1:Chini et al. (1992)} reported that alpha-bungarotoxin receptors are known to be present in normal and neoplastic thymic epithelial cells and in a variety of other cell types. +113960,{1:Von Deimling and de Looze (1983)} characterized butyrylesterase-1 in 14 mammalian species including man. They could not group it with any of the known esterases within the system of enzymes recommended by the International Union for Biochemistry (IUB) and therefore proposed that this enzyme be assigned to a new esterase subclass. +113970,"Burkitt lymphoma is a rare, aggressive B-cell lymphoma that accounts for 30 to 50% of lymphomas in children but only 1 to 2% of lymphomas in adults ({10:Harris and Horning, 2006}). It results from chromosomal translocations that involve the MYC gene ({190080}) and either the lambda or the kappa light chain immunoglobulin genes ({147220}, {147200}). Burkitt lymphoma is causally related to the Epstein-Barr virus (EBV), although the pathogenetic mechanisms are not clear." +114000,"Caffey disease is an autosomal dominant disorder characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. Painful swelling and systemic fever often accompany the episode, which usually begins before the age of 5 months and resolves before age 2 years. Laboratory findings include an elevated level of alkaline phosphatase and sometimes an elevation in white blood cell count and erythrocyte sedimentation rate. Recurrent episodes are uncommon (summary by {9:Gensure et al., 2005})." +114100,"Bilateral striopallidodentate calcinosis, also known as idiopathic basal ganglia calcification (IBGC), is characterized by the accumulation of calcium deposits in different brain regions and is associated with a neurodegenerative clinical phenotype. The changes seen in IBGC occur in the absence of calcium or parathyroid hormone (PTH; {168450}) metabolic disorders, such as hypoparathyroidism (see {146200}) or pseudohypoparathyroidism (PHP; see {103580}).\n\nSee also the adult-onset form ({213600}), which is sometimes erroneously referred to as 'Fahr disease.'" +114150,"In the large kindred reported by {1:Edwards and Gale (1972)} brachydactyly involved the hands and the feet in combination with congenital flexion contractures of the fingers. Syndactyly, polydactyly, septate vagina and urinary incontinence were present in some. Two severely affected children of affected first cousins were thought to be homozygotes." +114200,"Camptodactyly is defined as a permanent flexion contrature of 1 or both fifth fingers at the proximal interphalangeal joints. Additional fingers might be affected, but the little finger is always involved. Usually the condition appears to be sporadic in a family, but clinical examination of relatives reveals that it is an autosomal dominant condition subject to incomplete penetrance and variable expressivity (summary by {5:Malik et al., 2008})." +114290,"Campomelic dysplasia (CMPD) is an autosomal dominant skeletal dysplasia characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. CMPD is often lethal in the first year of life, due to respiratory insufficiency related to small chest size and tracheobronchial hypoplasia (summary by {29:Matsushita et al., 2013}).\n\nSOX9 mutations causing campomelic dysplasia have also been associated with 46,XY sex reversal, with marked variability in the degree of gonadal dysgenesis among patients carrying the same mutation ({5:Cameron and Sinclair, 1997})." +114300,"DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate (summary by {3:Bamshad et al., 2009}).\n\nThere are 2 syndromes with features overlapping those of DA3 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 5 (DA5; {108145}) and Marden-Walker syndrome (MWKS; {248700}), which are distinguished by the presence of ocular abnormalities and mental retardation, respectively. {12:McMillin et al. (2014)} suggested that the 3 disorders may represent variable expressivity of the same condition.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 ({108120})." +114450,"{1:Bech-Hansen et al. (1981)} studied a family in which members had had a diversity of neoplasms over 6 generations (originally reported by {2:Blattner et al., 1979}). Two members had neoplasms of possible radiogenic origin. Gamma-irradiation survival studies of cultured skin fibroblasts in these 2 patients and in 3 other relatives, but not their spouses, over 3 generations demonstrated resistance to cell killing. Radioresistance, as well as radiosensitivity (e.g., in ataxia-telangiectasia and xeroderma pigmentosum to gamma- and UV-irradiation, respectively), measured in vitro may be a marker for increased cancer risk. Thus, one subset of 'cancer families,' such as that described by {3:Li and Fraumeni (1969)}, may represent this category." +114480,"Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement." +114500,"Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by {62:Schweiger et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Colorectal Cancer\n\nMutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP; {175100}) and hereditary nonpolyposis colorectal cancer (HNPCC; see {120435}). FAP is caused by mutations in the APC gene ({611731}), whereas HNPCC is caused by mutations in several genes, including MSH2 ({609309}), MLH1 ({120436}), PMS1 ({600258}), PMS2 ({600259}), MSH6 ({600678}), TGFBR2 ({190182}), and MLH3 ({604395}). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, {613244}). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis ({608456}), which is caused by mutations in the MUTYH gene ({604933}), and oligodontia-colorectal cancer syndrome ({608615}), which is caused by mutations in the AXIN2 gene ({604025}).\n\nThe CHEK2 gene ({604373}) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene ({172411}) was identified in a patient with colorectal cancer.\n\nGermline susceptibility loci for colorectal cancer have also been identified. CRCS1 ({608812}) is conferred by mutation in the GALNT12 gene ({610290}) on chromosome 9q22; CRCS2 ({611469}) maps to chromosome 8q24; CRCS3 ({612229}) is conferred by variation in the SMAD7 gene ({602932}) on chromosome 18; CRCS4 ({601228}) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene ({603054}); CRCS5 ({612230}) maps to chromosome 10p14; CRCS6 ({612231}) maps to chromosome 8q23; CRCS7 ({612232}) maps to chromosome 11q23; CRCS8 ({612589}) maps to chromosome 14q22; CRCS9 ({612590}) maps to 16q22; CRCS10 ({612591}) is conferred by mutation in the POLD1 gene ({174761}) on chromosome 19q13; CRCS11 ({612592}) maps to chromosome 20p12; and CRCS12 ({615083}) is conferred by mutation in the POLE gene ({174762}) on chromosome 12q24.\n\nSomatic mutations in many different genes, including KRAS ({190070}), PIK3CA ({171834}), BRAF ({164757}), CTNNB1 ({116806}), FGFR3 ({134934}), AXIN2 ({604025}), AKT1 ({164730}), MCC ({159350}), MYH11 ({160745}), PARK2 ({602544}), RNF43 ({612482}), and BUB1 ({601452}) have been identified in colorectal cancer." +114550,"Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes ({38:Taniguchi et al., 2002})." +114580,"Chronic mucocutaneous candidiasis (CMC) includes a group of rare disorders with altered immune responses, selective against Candida, characterized by persistent and/or recurrent infections of the skin, nails, and mucous membranes, caused by organisms of the genus Candida, mainly Candida albicans ({10:Zuccarello et al., 2002}).\n\nIsolated familial chronic mucocutaneous candidiasis is distinct from candidiasis with endocrinopathy ({240300}).\n\nIn myeloperoxidase deficiency ({254600}), susceptibility to candidiasis may be increased.\n\n<Subhead> Genetic Heterogeneity of Candidiasis\n\nFamilial candidiasis-1 (CANDF1) maps to chromosome 2p. CANDF2 ({212050}) is caused by mutation in the CARD9 gene ({607212}) on chromosome 9q34.3. CANDF3 ({607644}), a form restricted to nails of the hands and feet, maps to chromosome 11. CANDF4 ({613108}) is caused by mutation in the CLEC7A gene ({606264}) on chromosome 12p13. CANDF6 ({613956}) is caused by mutation in the IL17F gene ({606496}) on chromosome 6p12. CANDF7 ({614162}) is caused by mutation in the STAT1 gene ({600555}) on chromosome 2q32. CANDF8 ({615527}) is caused by mutation in the TRAF3IP2 gene ({607043}) on chromosome 6q21. CANDF9 ({616445}) is caused by mutation in the IL17RC gene ({610925}) on chromosome 3p25.\n\nA form of familial candidiasis, previously thought to be isolated and designated CANDF5, has been found to be part of a primary immune deficiency (IMD51; {613953}) that includes Staphylococcal skin infections and increased susceptibility to chronic bacterial respiratory infections." +114620,"{1:Cantu et al. (1982)} reported 4 unrelated girls with an apparently identical syndrome consisting of mild mental retardation, short stature, macrocranium, prominent forehead, hypertelorism, exophthalmos, cardiac anomalies, cutis laxa, wrinkled palms and soles, joint hyperextensibility, wide ribs, and small vertebral bodies. The cases were all sporadic. The parents were nonconsanguineous. The father's age in each case was advanced: 45, 55, 46, and 51. The authors suggested that these patients were the result of de novo autosomal dominant mutation. (Possibly X-linked dominant mutation is equally plausible.)" +114650,"A mother and 2 sons (with different fathers) had a bleeding disorder and a serum defect in thromboplastin generation ({2:Komp, 1975}). The defect was not corrected by serum from 3 members of the Italian family whose name (in abbreviated form) was used by {1:Chirico and McElfresh (1957)} to designate a clotting factor in which they were deficient, the Car factor." +114700,"{2:Kraus (1951)} was of the opinion that homozygosity of a gene is responsible for a pronounced tubercle, whereas the heterozygote shows slight grooves, pits, tubercles or bulge. He provided good pictures of the anomaly. {3:Lee and Goose (1972)} studied the inheritance of this and four other common dental traits, namely, shovel incisors ({147400}), maxillary molar cusp number, mandibular molar cusp number, and fissure patterns. They concluded that all are probably multifactorial." +115000,"Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) is characterized by syncope, cardiac arrest, and/or sudden unexpected death. Polymorphic ventricular tachycardia and ventricular fibrillation have been documented in these patients. Symptoms generally occur with physical activity or emotional stress, but unlike typical catecholaminergic ventricular tachycardia (CPVT), arrhythmias are not reproducible on exercise stress testing or adrenaline challenge ({6:Sun et al., 2021}).\n\nMutation in the RYR2 gene also causes catecholaminergic polymorphic ventricular tachycardia-1 (CPVT1; {604772}) and arrhythmogenic right ventricular dysplasia-2 (ARVD2; {600996})." +115150,"Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by {34:Niihori et al., 2006}). The heart defects include pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy. Some patients have ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition. Typical facial characteristics include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Most cases occur sporadically, but autosomal dominant transmission has been rarely reported ({23:Linden and Price, 2011}).\n\n{41:Roberts et al. (2006)} provided a detailed review of CFC syndrome, including a discussion of the phenotypic overlap of CFC syndrome with Noonan syndrome (NS1; {163950}) and Costello syndrome ({218040}).\n\n<Subhead> Genetic Heterogeneity of Cardiofaciocutaneous Syndrome\n\nOther forms of cardiofaciocutaneous syndrome include CFC2 ({615278}), caused by mutation in the KRAS gene ({190070}); CFC3 ({615279}), caused by mutation in the MAP2K1 gene ({176872}); and CFC4 ({615280}), caused by mutation in the MAP2K2 gene ({601263}). The protein products of these causative genes, including BRAF, interact in a common RAS/ERK (see {601795}) pathway that regulates cell differentiation, proliferation, and apoptosis (summary by {41:Roberts et al., 2006})." +115200,"Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by {26:Levitas et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Dilated Cardiomyopathy\n\nMutations in many other genes have been found to cause different forms of autosomal dominant dilated cardiomyopathy. These include CMD1C ({601493}), with or without left ventricular noncompaction, caused by mutation in the LDB3 gene ({605906}) on 10q23; CMD1D ({601494}), caused by mutation in the TNNT2 gene ({191045}) on 1q32; CMD1E ({601154}), caused by mutation in the SCN5A gene ({600163}) on 3p22; CMD1G ({604145}), caused by mutation in the TTN gene ({188840}) on 2q31; CMD1I ({604765}), caused by mutation in the DES gene ({125660}) on 2q35; CMD1J ({605362}), caused by mutation in the EYA4 gene ({603550}) on 6q23; CMD1L ({606685}), caused by mutation in the SGCD gene ({601411}) on 5q33; CMD1M ({607482}), caused by mutation in the CSRP3 gene ({600824}) on 11p15; CMD1O ({608569}), caused by mutation in the ABCC9 gene ({601439}) on 12p12; CMD1P ({609909}), caused by mutation in the PLN gene ({172405}) on 6q22; CMD1R ({613424}), caused by mutation in the ACTC gene ({102540}) on 15q14; CMD1S ({613426}), caused by mutation in the MYH7 gene ({160760}) on 14q12; CMD1U ({613694}), caused by mutation in the PSEN1 gene ({104311}) on 14q24; CMD1V ({613697}), caused by mutation in the PSEN2 gene ({600759}) on 1q42; CMD1W ({611407}), caused by mutation in the gene encoding metavinculin (VCL; {193065}) on 10q22; CMD1X ({611615}), caused by mutation in the gene encoding fukutin (FKTN; {607440}) on 9q31; CMD1Y ({611878}), caused by mutation in the TPM1 gene ({191010}) on 15q22; CMD1Z ({611879}), caused by mutation in the TNNC1 gene ({191040}) on 3p21; CMD1AA ({612158}), caused by mutation in the ACTN2 gene ({102573}) on 1q43; CMD1BB ({612877}), caused by mutation in the DSG2 gene ({125671}) on 18q12; CMD1CC ({613122}), caused by mutation in the NEXN gene ({613121}) on 1p31; CMD1DD ({613172}), caused by mutation in the RBM20 gene ({613171}) on 10q25; CMD1EE ({613252}), caused by mutation in the MYH6 gene ({160710}) on 14q12; CMD1FF ({613286}), caused by mutation in the TNNI3 gene ({191044}) on 19q13; CMD1GG ({613642}), caused by mutation in the SDHA gene ({600857}) on 5p15; and CMD1HH ({613881}), caused by mutation in the BAG3 gene ({603883}) on 10q26; CMD1II ({615184}), caused by mutation in the CRYAB gene ({123590}) on 6q21; CMD1JJ ({615235}), caused by mutation in the LAMA4 gene ({600133}) on 6q21; CMD1KK ({615248}), caused by mutation in the MYPN gene ({608517}) on 10q21; CMD1LL ({615373}), caused by mutation in the PRDM16 gene ({605557}) on 1p36; CMD1MM (see {615396}), caused by mutation in the MYBPC3 gene ({600958}) on 11p11; and CMD1NN ({615916}), caused by mutation in the RAF1 gene ({164760}) on 3p25.\n\nSeveral additional loci for autosomal dominant familial dilated cardiomyopathy have been mapped: CMD1B ({600884}) on 9q13; CMD1H ({604288}) on 2q14-q22; CMD1K ({605582}) on 6q12-q16; and CMD1Q ({609915}) on 7q22.3-q31.1.\n\nAutosomal recessive CMD includes CMD2A ({611880}), caused by mutation in the TNNI3 gene ({191044}) on 19q13; CMD2B ({614672}), caused by mutation in the GATAD1 gene ({614518}) on 7q21; CMD2C ({618189}), caused by mutation in the PPCS gene ({609853}) on 1p34; CMD2D ({619371}), caused by mutation in the RPL3L gene ({617416}) on 16p13; CMD2E ({619492}), caused by mutation in the JPH2 gene ({605267}) on chromosome 20q13; and CMD2F ({619747}), caused by mutation in the BAG5 gene ({603885}) on chromosome 14q32.\n\nAn X-linked form of CMD (CMD3B; {302045}) is caused by mutation in the DMD gene ({300377}). An X-linked form previously designated CMD3A was found to be the same as Barth syndrome ({302060}).\n\n<Subhead> Reclassified CMD Symbols\n\nThe symbol CMD1F was formerly used for a disorder later found to be the same as desmin-related myopathy ({601419}).\n\nThe symbol CMD1N (see {607487}) was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TCAP gene ({604488.0003}); this variant has subsequently been reclassified as a variant of unknown significance.\n\nThe symbol CMD1T was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TMPO gene ({188380.0001}); this variant has subsequently been reclassified as a variant of unknown significance." +115210,"Restrictive cardiomyopathy (RCM) is a myocardial disease characterized by impaired ventricular filling and reduced diastolic volume in the presence of normal systolic function and normal or near-normal myocardial thickness. The disease is characterized by symptoms of progressive left- and right-sided heart failure. The overall prognosis is poor, especially when onset is in childhood, and patients often require cardiac transplantation ({9:Mogensen et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Familial Restrictive Cardiomyopathy\n\nOther forms of familial restrictive cardiomyopathy include RCM2 ({609578}), mapped to chromosome 10q23; RCM3 ({612422}), caused by mutation in the TNNT2 gene ({191045}) on chromosome 1q32; RCM4 (see {615248}), caused by mutation in the MYPN gene ({608517}) on chromosome 10q21; RCM5 (see {617047}), caused by mutation in the FLNC gene ({102565}) on chromosome 7q32; and RCM6 ({619433}), caused by mutation in the KIF20A gene ({605664}) on chromosome 5q31." +115300,"In hypercarotenemia and vitamin A deficiency (HCVAD), serum beta-carotene levels are very high, but serum vitamin A levels are low to low-normal. Yellow or orange discoloration of skin may be present (summary by {4:Lindqvist et al., 2007}).\n\nSee also {277350} for possible autosomal recessive inheritance." +115400,"{1:Ellsworth (1927)} found displacement of the carpal bone group on the radius and ulna. The distal epiphyses of these bones were misshapen. Five females in 4 generations were affected in a pattern equally consistent with either autosomal or X-linked inheritance. Carpal bossing appears to be the same trait as Ellsworth described. A prominence is produced by a double beak between the third metacarpal and the capitate bone of the wrist. Photographs and x-rays were presented by {3:Larson et al. (1958)}, who estimated that it is present in about 26% of adults but only 1 of 50 children under 15 years of age. The genetics has not been worked out. Both genetic and environmental (e.g., occupational) factors may be involved. {4:Surana (1973)} described carpal bossing (which is probably a better term than carpal displacement) in several members of 3 generations, with male-to-male transmission. Clinically, they showed a small bony prominence on the third metacarpal-carpal joint. Roentgenograms of the wrist in marked palmar flexion showed a bony overgrowth of the dorsal aspect of both the capitate and the third metacarpal at the joint margin producing a characteristic double beak. All affected persons were asymptomatic. {4:Surana (1973)} stated that this trait was first described by {2:Fiolle (1931)} as 'carpe bossu.'" +115430,"Carpal tunnel syndrome-1 (CTS1) is characterized by hand pain and numbness in the distribution of the median nerve, with onset in the sixth decade of life. Amyloid deposits are observed in synovial tissue of the wrist and in the transverse carpal ligament ({15:Murakami et al., 1994}).\n\n<Subhead> Genetic Heterogeneity of Carpal Tunnel Syndrome\n\nCTS2 ({619161}) is caused by mutation in the COMP gene ({600310}) on chromosome 19p13.\n\nSusceptibility to the development of mononeuropathy of the median (MNMN; {613353}) may also be conferred by heterozygous mutation in the SH3TC2 gene ({608206}) on chromosome 5q32." +115470,"Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11)." +115660,"Cerulean cataract, first described by {4:Vogt (1922)}, is an autosomal dominant, early-onset, bilateral cataract with complete penetrance. Newborns appear asymptomatic until the age of 18 to 24 months, at which time they can be clinically diagnosed by slit-lamp examination through the appearance of tiny blue or white opacities that form first in the superficial layers of the fetal lens nucleus. The opacities progress throughout the adult lens nucleus and the cortex, forming concentric layers, with central lesions oriented radially. Histologically the lesions appear to be tapered cavities between lens fibers. Progression of the cataract is slow, such that patients may have lens extractions between the ages of 16 and 35 years ({1:Armitage et al., 1995}).\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Congenital, Cerulean Type, 1; CCA1.'" +115665,"The Volkmann type of cataract has been variously described as progressive, central, or zonular, with opacities in the embryonic, fetal, and juvenile nucleus and around the anterior and posterior Y-suture. Expression is highly variable, ranging from hardly recognizable opacities in the lens to dense cataracts. Affected members may thus be unaware of having the disease ({1:Eiberg et al., 1995}).\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Congenital, Volkmann Type; CCV.'" +115700,"Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. Some patients also exhibit microcornea.\n\nBecause multiple types of cataract are caused by mutation in the CRYGD gene, some of which display intrafamilial variability, several earlier distinct cataract entries in OMIM have been included here." +115800,"Coralliform cataracts are characterized by multiple coral-like white opacities that radiate out bilaterally in an axial direction from the center of the lens in a fusiform or spindle-shaped fashion but never actually reach the capsule (summary by {1:Gao et al., 2005})." +116100,"Mutation in the CRYGS gene has been identified in multiple types of cataract, which have been described as progressive polymorphic anterior, posterior, peripheral cortical, sutural, and lamellar." +116200,"Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene.\n\nBefore it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1." +116300,"Mutations in the VIM gene have been found to cause multiple types of congenital cataract, which have been described as congenital, pulverulent, and posterior polar." +116400,"Cataract is an opacification of the lens or lens capsule in the eye and is the most common cause of childhood blindness in the world, with an incidence of 1 to 3 per 10,000 live births. If untreated in infancy or childhood, it frequently causes visual impairment and can result in irreversible amblyopia. Nuclear cataract refers to opacification within the embryonal and/or fetal nuclei of the lens (summary by {1:Berry et al., 2013})." +116600,"Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical.\n\nThe preferred title/symbol of this entry was formerly 'Cataract, posterior polar, 1; CTPP1,' and 'Cataract, Age-Related Cortical, 2; ARCC2' was formerly a distinct entry." +116700,"The i and I antigens of the I blood group system ({110800}) are carbohydrate structures carried on glycolipids and glycoproteins and are characterized as straight or branched glycochains composed of repeating N-acetyllactosamine (LacNAc) units, respectively. Conversion of i antigen into an I-active structure requires the activity of the I-branching enzyme, beta-1,6-N-acetylglucosaminyltransferase (GCNT2; {600429}), which adds the decisive GlcNAc-beta-1-6 branch onto the straight poly-LacNAc chains. Expression of the i and I antigens on red blood cells (RBCs) is reciprocal and developmentally regulated. Adult human RBCs predominantly express I antigen, whereas fetal and neonatal RBCs predominantly express i antigen. After birth, I antigen levels increase gradually as i antigen levels fall, with the normal Ii status of adult RBCs reached after about 13 to 20 months. Mutations that specifically affect 1 of the 3 variants produced by the GCNT2 gene cause the rare adult i phenotype (see {110800}), in which adult RBCs are rich in i antigen and contain low levels of I antigen. Mutations that eliminate all 3 GCNT2 variants cause the adult i phenotype with congenital cataract (review by {7:Yu and Lin, 2011})." +116800,"Congenital cataracts cause 10 to 30% of all blindness in children, with one-third of cases estimated to have a genetic cause (summary by {1:Bu et al., 2002}). Mutations in the HSF4 gene have been found to cause multiple types of cataract, which have been described as infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type.\n\nThe preferred title for this entry was formerly 'Lamellar Cataract,' with 'Cataract, Marner Type; CAM; CTM' an included title." +116850,In this trait a forelock 4 to 6 inches long is present. The hair is usually finer than that of the rest of the head and may be more wavy than the rest. {1:Stoddard (1939)} described a family with affected persons in 4 generations. At least 1 skipped generation involved a male. Catatrichy is less evident in men than in women. +116860,"Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Cerebral cavernous angiomas are to be distinguished from cerebral arteriovenous malformations ({106070}, {108010}). CCMs are venous and not demonstrable by arteriography; hence they are referred to as angiographically silent.\n\nCapillary hemangiomas ({602089}) are classified as distinct from vascular malformations in that hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. Hemangiomas develop shortly after birth. In contrast, vascular malformations are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover ({41:Mulliken and Young, 1988}).\n\n<Subhead> Genetic Heterogeneity of CCM\n\nCCM2 ({603284}) is caused by germline mutation in the CCM2 gene ({607929}); CCM3 ({603285}) is caused by germline mutation in the PDCD10 gene ({609118}); and CCM4 ({619538}) is caused by somatic mutation in the PIK3CA gene ({171834}).\n\nEvidence suggests that a 2-hit mechanism involving biallelic germline and somatic mutations is responsible for CCM1 pathogenesis; see PATHOGENESIS and MOLECULAR GENETICS sections." +116870,{1:Dodinval and Dreze (1972)} described a mother and daughter with this finding. The celiac artery was malpositioned congenitally. Both suffered from abdominal pains which were relieved by appropriate surgery. +116920,"Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.\n\n<Subhead> Genetic Heterogeneity of Leukocyte Adhesion Deficiency\n\nAlso see LAD2 ({266265}), caused by mutation in the SLC35C1 gene ({605881}), and LAD3 ({612840}), caused by mutation in the FERMT3 gene ({607901})." +116950,"{2:Ming et al. (1976)} demonstrated that a factor essential to the normal mammalian cell cycle is located on human chromosome 3. AF8 Syrian hamster cells have a temperature-sensitive mutation; they grow normally at 33.5 degrees F, but at 39 degrees are blocked in mid-G1. When these cells are fused with Lesch-Nyhan (see {300322}) fibroblasts transformed by simian virus 40, the hybrid cells grow at 39 degrees. {2:Ming et al. (1976)} observed preferential retention of human chromosome 3 in all hybrid clones that would grow at 39 degrees and often only that chromosome was retained. This indicates that a factor (or factors) concerned with the mammalian cell cycle at the G1 stage is carried by chromosome 3. Other temperature sensitivity complementation loci, all cell cycle specific, are located on chromosomes 9 ({187290}), 14 ({187310}), 4 ({187320}), and 6 ({187330}). See {313650} for description of an X-linked temperature-sensitive mutation of mouse and hamster (complemented by the human X-chromosome). {1:Ashihara et al. (1978)} showed that the tsAF8 cells are blocked, at the nonpermissive temperature, at a specific point in the mid-G1 phase of the cell cycle. {3:Rossini and Baserga (1978)} showed that the temperature-sensitive defect in AF8 cells is associated with loss of RNA polymerase II activity. One subunit of RNA polymerase II ({180660}) is coded by chromosome 17p." +117000,"Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1; {145600}). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability ({17:Jungbluth et al., 2009}). Some patients can present in utero or at birth with severe congenital myopathy ({3:Bharucha-Goebel et al., 2013})." +117100,"Benign epilepsy of childhood with centrotemporal spikes (BECTS) or sharp waves, also known as rolandic epilepsy, is the most common idiopathic childhood epilepsy syndrome ({6:Neubauer et al., 1998}). It is termed 'rolandic' epilepsy because of the characteristic features of partial seizures involving the region around the lower portion of the central gyrus of Rolando. This results in classic focal seizures that affect the vocal tract, beginning with guttural sounds at the larynx and sensorimotor symptoms that progress to the tongue, mouth, and face, resulting in hypersalivation and speech arrest. Seizures most often occur in sleep shortly before awakening. The disorder occurs more often in boys than in girls (3:2). Rolandic epilepsy is considered a neurodevelopmental disorder, affecting 0.2% of the population. Affected individuals may have learning disabilities or behavioral problems; however, the seizures and accompanying problems usually remit during adolescence (summary by {8:Strug et al., 2009}).\n\nSee also focal epilepsy and speech disorder (FESD; {245570}), which is caused by mutation in the GRIN2A gene ({138253}) on chromosome 16p13. Some patients with GRIN2A mutations show features consistent with a clinical diagnosis of BECTS. Some patients with DEPDC5 ({614191}) mutations may show features consistent with rolandic epilepsy (see FFEVF, {604364})." +117360,"Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by {4:Huang et al., 2012}).\n\nHeterozygous mutation in the ITPR1 gene also causes SCA15 ({606658}), which is distinguished by later age at onset and normal cognition.\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +117550,"Sotos syndrome (SOTOS) is a neurologic disorder characterized by overgrowth from the prenatal stage through childhood, with advanced bone age, an unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies and seizures, and impaired intellectual development (summary by {34:Kurotaki et al., 2002}).\n\nWeaver syndrome ({277590}), which shows considerable phenotypic overlap with Sotos syndrome, has been shown to be caused by mutation in the EZH2 gene ({601573}) on chromosome 7q36." +117600,In 2 families {1:Gainer et al. (1975)} observed 4 cases of cerebral fibrosarcoma (father and daughter; 2 sisters). +117650,"Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental retardation. A spectrum of rib gap defects have been reported ranging from a few dorsal rib segments to complete absence of ossification. In about half of the 65 reported cases to date, there is cerebral involvement including mental retardation, microcephaly, and histologic anomalies. Both autosomal dominant and autosomal recessive forms of the disorder have been described ({24:Zeevaert et al., 2009}).\n\nSee CDG2G ({611209}) for a cerebrocostomandibular-like syndrome." +117850,"Congenital localized hypertrichosis occurs most often over the spine, usually in the sacral area, producing a 'faun tail.' Similar localized hypertrichosis has been reported in the lumbar thoracic and cervical regions; however, they represent important cutaneous markers of underlying skeletal or neural abnormalities. {1:Reed et al. (1989)} described a family in which members of 4 generations had cervical hypertrichosis with underlying kyphoscoliosis. Although 3 males and 3 females were affected, there was no instance of male-to-male transmission." +117900,"{2:Weston (1956)} found cervical ribs or enlarged transverse processes in 14 of 20 members of a family. The anomaly was particularly striking among the offspring of 2 affected parents, raising the question of homozygosity. {1:Schapera (1987)} observed 9 affected persons in 5 sibships of 3 generations (and, by implication, a fourth) of a South African family. There was no instance of male-to-male transmission. Of the 9 affected persons, 5 were males. The expression varied from unilateral enlargement of the transverse processes of C7 to bilateral complete cervical ribs. The number of vertebrae was normal in all the affected and unaffected members of the family. Two family members had experienced severe neurovascular complications. {1:Schapera (1987)} suggested that this represents autosomal dominant inheritance, especially when the full range of expression is taken into account." +118000,"A bony bridge (ponticulus posterius) on the first cervical vertebra, roofing the groove occupied by the vertebral artery, behaves as a dominant trait. The gene has a frequency of about 0.15." +118005,"{1:Saltzman et al. (1991)} described a kindred in which 9 members in 3 generations had cervical vertebral dysplasia. All of the affected persons had had an abnormality of the first cervical vertebra, the atlas. Some also had defects of the second cervical vertebra, the axis, and vertebrae caudad to it. Two of the family members had symptoms. One had a passively correctable tilt of the head, with an associated audible clunk and hypoplasia of the left superior facet of the second cervical vertebra. A second member of the family had developed suboccipital pain. Radiographs showed anterior atlantooccipital dislocation. These symptoms were relieved by reduction and arthrodesis." +118100,"Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ({22:Tracy et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Klippel-Feil Syndrome\n\nAdditional forms of KFS include autosomal recessive KFS2 ({214300}), caused by mutation in the MEOX1 gene ({600147}) on chromosome 17q21, autosomal dominant KFS3 ({613702}), caused by mutation in the GDF3 gene ({606522}) on chromosome 12p13, and autosomal recessive KFS4 ({616549}), caused by mutation in the MYO18B gene ({607295}) on chromosome 22q12.\n\nSee also MURCS association ({601076}), in which Klippel-Feil anomaly is associated with urogenital anomalies." +118200,"Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system ({74:Skre, 1974}). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.\n\n<Subhead> Classification\n\nOn the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; {118210}). Distal hereditary motor neuropathy (dHMN) (see {158590}), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves ({68:Pareyson, 1999}).\n\n{58:McAlpine (1989)} proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A ({118220}) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal).\n\nFor a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 ({302800}), CMT2A1 ({118210}), CMT3 (DSS; {145900}), CMT4A ({214400}), and CMTDIB ({606482}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1\n\nAutosomal dominant demyelinating CMT1 is genetically heterogeneous disorder and can be caused by mutations in different genes (see CMT1A, {118220}; CMT1C, {601098}; CMT1D, {607678}), CMT1E ({607734}), CMT1F ({607734}), CMT1G ({618279}), CMT1H ({619764}), and CMT1I ({619742}).\n\nSee also {608236} for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs)." +118210,"Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a slow motor median nerve conduction velocity (NCV) (less than 38 m/s), and type 2, the axonal form, with a normal or slightly reduced NCV. Distal hereditary motor neuropathy (dHMN), also known as spinal CMT, is a third type of CMT characterized by normal motor and sensory NCV and degeneration of spinal cord anterior horn cells. See CMT1B ({118200}) and CMT1A ({118220}) for descriptions of autosomal dominant slow nerve conduction types of Charcot-Marie-Tooth disease. See CMT4A ({214400}) and CMTX1 ({302800}) for autosomal recessive and X-linked forms of Charcot-Marie-Tooth disease, respectively.\n\n<Subhead> Genetic Heterogeneity of Charcot-Marie-Tooth Disease Type 2\n\nSeveral forms of axonal CMT neuropathies caused by mutations in different genes or at different loci have been described, including CMT2B ({600882}), CMT2B1 ({605588}), CMT2B2 ({605589}), CMT2C ({606071}), CMT2D ({601472}), CMT2E ({607684}), CMT2F ({606595}), CMT2H ({607731}), CMT2I ({607677}), CMT2J ({607736}), CMT2K ({607831}), CMT2L ({608673}), CMT2M (see {606482}), CMT2N ({613287}), CMT2O ({614228}), CMT2P ({614436}), CMT2Q ({615025}), CMT2R ({615490}), CMT2S ({616155}), CMT2T ({617017}), CMT2U ({616280}), CMT2V ({616491}), CMT2W ({616625}), CMT2X ({616668}), CMT2Y ({616687}), CMT2Z ({616688}), CMT2CC ({616924}), CMT2DD ({618036}), CMT2EE ({618400}), CMT2FF ({619519}), CMT2GG ({606483}), and CMT2HH ({619574}).\n\nA form of axonal CMT that was previously designated CMT2G was found to be the same as CMT2P ({614436})." +118220,"For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B ({118200}).\n\nCMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992})." +118230,"{1:Ruiz et al. (1987)} described a father and 2 sons with clinical and electrophysiological features of hereditary motor and sensory neuropathy, neuronal type, with onset in infancy, as well as histologic features of neurogenic myopathy. The 2 sons, aged 2 and 3.33 years, showed congenital contraction deformities of the feet and delayed motor development. All 3 also had laryngeal abnormalities, peculiar facies, short neck, narrow shoulders, and protruding chest. Both sons showed inspiratory stridor at birth as well as flexion contractures. The father had stridor during the first months of life, crawled until 4 years of age, and then began to walk with a clumsy gait and frequent falls." +118301,"{1:Tandan et al. (1990)} described an apparently 'new' disorder combining neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and mild dementia. The propositus, a 72-year-old man, had pes cavus, peripheral neuropathy, ptosis, parkinsonism, hyperreflexia, orthostatic hypotension, central hypoventilation, and mild dementia. Several family members in 3 generations, with at least 1 instance of male-to-male transmission, had pes cavus, neuropathy, ptosis, parkinsonism, and dementia, although not all of the features were consistently present. Survival past the seventh decade was common. Autopsy in 2 affected members showed that the neuropathy was axonal; mild to moderate loss of anterior horn cells in the spinal cord and pigmentary loss with gliosis in the substantia nigra were other findings." +118330,"Cheilitis glandularis is characterized by enlargement and eversion of the lower lip associated with hypertrophy of the labial mucous glands, dilatation of the excretory ducts, and variable inflammation. In whites, it is associated with a relatively high incidence of squamous cell carcinoma of the lower lip, presumably due to actinic exposure of the mucosa. {2:Weir and Johnson (1971)} described the disorder in a black man and his son and daughter." +118350,"{1:Lee et al. (1977)} described 2 brothers with cutaneous angiolipomas and retroperitoneal chemodectomas. Both died of malignant dissemination of the chemodectomas. Two other brothers died of tumors before age 45, and one of them also had skin lumps. Thus, they may have been affected also. See paragangliomata ({168000})." +118400,"Cherubism is characterized by a loss of bone, restricted to the jaws, and by the replacement of this bone with fibrous tissues, leading to facial swelling. Involvement of the infraorbital rim and the orbital floor leads to the upward tilting of the eyeballs and consequent exposure of the inferior part of the sclerae, giving a 'cherubic' appearance. Submandibular lymph node enlargement is often reported. Functional impairment includes mastication and speech problems, tooth alterations, and loss of normal vision. Onset of the disease is usually between 14 months and 4 years of age. The disease progresses through puberty, then stabilizes, and in some cases regresses without treatment (summary by {13:Tiziani et al., 1999})." +118420,"Chiari malformation type I (CM1) is the protrusion of the cerebellar tonsils through the foramen magnum, defined radiologically as tonsillar descent of 5 mm or more. CM1 is associated with syringomyelia (see {186700}) in up to 80% of cases. Although many individuals with CM1 are asymptomatic, the malformation can cause headaches, ocular disturbances, otoneurologic disturbances, lower cranial nerve signs, cerebellar ataxia, or spasticity. Onset of symptoms is usually in the third decade of life ({28:Speer et al., 2003}).\n\nSince many cases of CM1 are asymptomatic, prevalence estimates may not be accurate. However, a retrospective investigation of brain MRIs reported the prevalence of CM1 to be 1 in 1,280 individuals ({21:Meadows et al., 2000})." +118425,"The muscle chloride channel CLCN1 regulates the electric excitability of the skeletal muscle membrane. Skeletal muscle has an unusually high resting Cl(-) conductance and in vitro studies suggest that reduction of this conductance causes electrical instability and resulting myotonia in both humans and animal models. Muscle Cl(-) conductance is predominantly mediated by the CLCN1 chloride channel (summary by {38:Steinmeyer et al., 1994})." +118430,"{5:Leslie and Pyke (1978)} observed CPAF in a mother and her 2 daughters with diabetes mellitus. They were prompted thereby to study the response to chlorpropamide and alcohol (in the form of sherry) in noninsulin-dependent diabetics (sometimes known as maturity-onset or type 2), in insulin-dependent diabetics (sometimes known as juvenile-onset or type 1), and in normals. CPAF was common in the first group and rare in the other two. Twin and family studies supported autosomal dominant inheritance. In a second study, {7:Pyke and Leslie (1978)} concluded that the CPAF test detects noninsulin-dependent diabetes before the onset of glucose intolerance. About one-fifth of all cases of noninsulin-dependent diabetes showed CPAF. Thus, a special subclass was identified. They called this the Mason type after the first family they observed (see {125850}). They observed CPAF-positive families in which onset of diabetes was late (after 30) and concluded that they represent the same disorder. Known by the trade name Diabinase, chlorpropamide is an oral hypoglycemic. The sulfonylurea oral hypoglycemic agents other than chlorpropamide do not have a flushing effect when taken with alcohol. Retinopathy (see {603933}) is less prevalent and less severe in patients with the flushing reaction ({4:Leslie et al., 1979}). The flush can be reproduced in susceptible persons by infusion of a met-enkephalin analog and blocked by naloxone ({6:Leslie et al., 1979}). Facial temperature before the flush is lower in flushers than in nonflushers ({4:Leslie et al., 1979}). Nondiabetic relatives of diabetic flushers may show the same phenomenon. Aspirin suppresses the flush ({8:Strakosch et al., 1980}). A prostaglandin-dependent step in the mechanism of the flush was postulated." +118450,"Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype ({39:Li et al., 1997}). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia ({29:Kamath et al., 2012}).\n\n{70:Turnpenny and Ellard (2012)} reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome.\n\n<Subhead> Genetic Heterogeneity of Alagille Syndrome\n\nAnother form of Alagille syndrome (ALGS2; {610205}) is caused by mutation in the NOTCH2 gene ({600275})." +118600,"Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia); and a sporadic form, which may in some cases represent the hereditary form (summary by {15:Hughes et al., 1995} and {30:Richette et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Chondrocalcinosis\n\nAnother form of chondrocalcinosis (CCAL1; {600668}) has been mapped to chromosome 8q." +118610,"{2:Marcos et al. (1981)} described a family in which the mother (aged 67) and 2 daughters and 2 sons (aged 48, 45, 34, and 33) had chondrocalcinosis. They showed that the deposits were not calcium pyrophosphate (see {118600}) but rather carbonate calcium hydroxyapatite. The clinical features were morning stiffness, pain, and limitation of motion of the dorsolumbar spine in 4, associated with arthritis of the small joints of the hands in 3, shoulder periarthritis in 2, and costochondral pain in 1. In 4, multiple intervertebral disc calcifications, mainly in the nucleus pulposus, were seen radiographically. Periarticular calcific deposits, costal cartilage calcifications, and degenerative changes in the small joints of the hands were seen also. None had cartilage calcification in the knees, pubic symphysis, or triangular ligament of the carpus. Thus, there are clinical differences from the calcium pyrophosphate form of the disease. Calcific periarthritis was reported in identical twins by {1:Cannon and Schmid (1973)} and in a proband whose relatives had calcification of intervertebral discs by {3:Zaphiropoulos (1973)}." +118650,"For a general phenotypic description and a discussion of genetic heterogeneity of chondrodysplasia punctata, see CDPX2 ({302960})." +118651,"For a general phenotypic description and a discussion of genetic heterogeneity of chondrodysplasia punctata, see CDPX2 ({302960})." +118670,"Chondronectin is a distinct glycoprotein similar in structure and function to fibronectin. It is present in plasma in the concentration of about 20 micrograms per ml. In tissues, it is limited to cartilage and vitreous, which are also the sites of type II collagen, and functions in relation to chondrocytes and type II collagen in the way that fibronectin functions in relation to other cells and types I and III collagen ({2:Kleinman et al., 1981}). It also binds chondroitin sulfate and heparin ({1:Kleinman, 1982})." +118700,"Benign hereditary chorea (BHC) is an autosomal dominant movement disorder that manifests before age 5 years and has a stationary or only slightly progressive course. Intelligence is normal or slightly below normal and mental deterioration is not seen. In some families, the choreic movements decrease during adolescence or early adulthood (summary by {3:Breedveld et al., 2002})." +118750,"{1:Fisher et al. (1979)} described a family with a seemingly 'new' form of progressive choreoathetosis. Onset was infantile. The movements predominantly affected the legs and also impaired gait. No dementia, seizures, or rigidity was noted. It was designated 'inverted' because of the predominant involvement of the legs, an unusual feature among the choreas. Four generations, 5 sibships and 10 individuals were affected, with male-to-male transmission. The authors thought that it was distinguishable from benign hereditary chorea by its progressive nature; benign chorea remains static from early childhood and may even improve. In addition, pyramidal tract signs, demonstrated in some cases of the inverted form, have not been observed in benign chorea. In addition to benign hereditary chorea ({118700}) and Huntington disease ({143100}), familial choreoathetosis also occurs in a familial paroxysmal form ({118800}), which may be precipitated by sudden movements, i.e., kinesigenic ({128200}); with Lesch-Nyhan syndrome ({308000}); with Wilson disease ({277900}); with acanthocytosis ({200150}) and sometimes with familial basal ganglion calcification ({114100})." +118800,"Paroxysmal nonkinesigenic dyskinesia-1 (PNKD1) is an autosomal dominant movement disorder characterized by attacks of dystonia, chorea, and athetosis. Attacks may be precipitated by stress, fatigue, caffeine, alcohol, ovulation, or menstruation, and may last minutes to hours (summary by {3:Chen et al., 2005}, {8:Ghezzi et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Paroxysmal Nonkinesigenic Dyskinesia\n\nSee also PNKD2 ({611147}), mapped to chromosome 2q31, and PNKD3 ({609446}), caused by mutation in the KCNMA1 gene ({600150}) on chromosome 10q22." +118830,"{1:Brunzell et al. (1983)} described a mother and her son with hyperlipoproteinemia type I (the chylomicronemia syndrome), very low levels of postheparin plasma lipolytic activity, and circulating inhibitor of lipoprotein lipase, who differed from subjects with lipoprotein lipase deficiency ({238600}) in that the enzyme was present in adipose tissue at much higher levels than those seen in normal subjects. They also differed from subjects with deficiency of apolipoprotein C-II ({207750}) in that apolipoprotein C-II was present in their plasma in normal or elevated amounts. They appeared to have an inhibitor to lipoprotein lipase activity that inhibited that activity eluted from adipose tissue with heparin and that activity present in postheparin of normals. The inhibitor was nondialyzable, heat-stable, and sensitive to repeated freezing and thawing; it appeared to be present in the nonlipoprotein fraction of plasma. The same abnormality may have been present in her father and grandson; if the latter is true, this would be an instance of male-to-male transmission. The mother was a 47-year-old white woman who was found to have massive hypertriglyceridemia after developing eruptive xanthomas on the outer aspects of both feet. Plasma triglyceride level was 3,865 mg/dl. She had a history of recurrent undiagnosed abdominal pain since the age of 16 years. Alcohol intake was minimal and she was not taking any hormone preparations. The spleen was palpable. She was not obese. Dietary fat restriction reduced triglyceride levels and prevented recurrent attacks of pancreatitis. Her father had died at age 39 years after surgery for acute abdominal pain. Her only son, aged 21 years, had marked hypertriglyceridemia but was asymptomatic and had no xanthomas or hepatosplenomegaly. She had a grandson who at 4 months of age had grossly lipemic plasma with triglyceride of 2400 mg/dl and cholesterol of 246 mg/dl." +118840,"In interspecific human-Chinese hamster ovary (CHO) cell hybrids, {2:Dana and Wasmuth (1982)} showed that resistance to concentrations of sodium chromate that normally are cytotoxic is determined by a gene on chromosome 5 in man. The biochemical nature of the mutation that results in chromate resistance is unknown. Emetine resistance (EMTB; {130620}) and temperature-sensitive leucyl-tRNA synthetase (LEUS; {151350}) are also determined by genes on human chromosome 5. The synteny of the 3 loci has been long maintained in evolution, evidenced by the fact that the 3 loci are linked on the long arm of Chinese hamster chromosome 2. {1:Dana and Wasmuth (1982)} subjected Chinese hamster-human interspecific hybrid cells, which contained human chromosome 5 and expressed the 4 syntenic genes LEUS, HEXB ({606873}), EMTB, and CHR, to selective conditions requiring them to retain the LEUS gene but lose either the EMTB or CHR gene. Using cytogenetic and biochemical analyses of spontaneous segregants, which arose primarily by terminal deletions of various portions of 5q, {1:Dana and Wasmuth (1982)} concluded that the order and specific locations of the linked genes are: LEUS, 5pter-5q1; HEXB, 5q13; EMTB, 5q23-5q35; and CHR, 5q35. The product of the CHR locus appears to be involved in sulfate transport ({1:Dana and Wasmuth, 1982})." +118865,"Choroidal osteoma is a benign tumor found in the peripapillary region, most characteristically in one eye of otherwise healthy, young females. Histopathologic changes include bone formation with trabeculae, blood-filled cavernous spaces, and cells typical of bone formation, i.e., osteoblasts, osteocytes, and osteoclasts." +118900,"{2:Joske and Laurence (1970)} described a family in which the father and 4 of 10 children had chronic liver disease and raised immunoglobulin levels. A possible nongenetic basis is suggested by the example of hepatitis-associated antigen (HAA), or Australian antigen, in a mother and 3 children ascertained through one of the children who had neonatal giant cell hepatitis ({1:Bancroft et al., 1971}). {3:Nasrallah et al. (1978)} described a family in which the mother and all 6 of her sons but none of her 5 daughters had HBs antigenemia. The mother and her husband were second cousins; see {209800} for a discussion of recessive inheritance of persistent antigenemia. Percutaneous liver biopsies showed no evidence of liver disease in the mother but all 6 sons had evidence of chronic active hepatitis progressing to cirrhosis." +118943,"Chymosin ({EC 3.4.23.4}) is an aspartyl proteinase with an exceedingly high specificity. The enzyme cleaves only the phenylalanine-methionine peptide bond between amino acid residues 105 and 106 in kappa-casein, leading to the coagulation of milk. In the biotechnological industry, chymosin has a wide use in cheese manufacturing as the coagulant of milk. Chymosin is synthesized in the chief and mucous neck cells of the gastric glands in the fourth stomach of newborn calves. The enzyme is synthesized as an enzymatically inactive precursor, preprochymosin. In the process of secretion, preprochymosin, comprising 381 amino acids, is processed by the signal peptidase into an inactive 365-amino acid prochymosin. At low pH, prochymosin undergoes autocatalytic cleavage of 42 N-terminal amino acids, yielding active chymosin. Chymosin is also found in other mammalian species, e.g., the newborn pig, cat, seal, and lamb. The presence of chymosin in humans is a matter of controversy. {3:Ord et al. (1990)} cloned a human genomic sequence homologous to the bovine prochymosin gene. The sequence showed a 1-bp deletion and a 2-bp deletion in the human sequence corresponding to bovine prochymosin exons 4 and 6, respectively. There also was a terminator codon in the open reading frame corresponding to bovine prochymosin exon 5. Thus, this genomic sequence apparently represents a human prochymosin pseudogene. No functional gene was identified. Using DNA obtained from human/hamster somatic cell hybrids as a PCR template, {2:Kolmer et al. (1991)} mapped the human prochymosin pseudogene to chromosome 1. {1:Foltmann (1992)} gave a review." +119000,A bony peculiarity underlies the Y-shaped fissure of the chin. +119100,"This form of split-hand/foot malformation with long bone deficiency (SHFLD1) maps to chromosome 1q42.2-q43.\n\nSee also SHFLD2 ({610685}), which maps to chromosome 6q14.1, and SHFLD3 ({612576}), which maps to chromosome 17p13.3-p13.1. Split-hand/foot malformation with fibular hypoplasia/aplasia has also been reported, see {113310}." +119300,"Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome.\n\n<Subhead> Genetic Heterogeneity of van der Woude Syndrome\n\nAlso see VWS2 ({606713}), caused by mutation in the GRHL3 gene ({608317}) on chromosome 1p36." +119500,"Popliteal pterygium syndrome (PPS) is an autosomal dominant disorder with diverse clinical features including orofacial anomalies such as lower lip pits, cleft lip and/or palate, and syngnathia, and skin and genital abnormalities including webbing of the lower limbs, syndactyly, hypoplasia of the labia majora, and bifid or absent scrotum (summary by {19:Matsuzawa et al., 2010})." +119530,"Nonsyndromic cleft lip with or without cleft palate is a complex disease with a wide phenotypic spectrum ranging from notches of the vermilion and/or grooves in the philtrum to complete unilateral and bilateral clefts of the lip and palate (summary by {37:Neiswanger et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Orofacial Cleft\n\nIsolated cleft lip with or without cleft palate (CL/P) is genetically heterogeneous. The OFC1 locus has been mapped to chromosome 6p24. Other CL/P loci have been mapped to 2p13 (OFC2; {602966}), 19q13 (OFC3; {600757}), 4q (OFC4; {608371}), 13q33.1-q34 (OFC9; {610361}), 8q24.3 (OFC12; {612858}), and 1p33 (OFC13; {613857}).\n\nOFC5 ({608874}) is caused by mutation in the MSX1 gene ({142983}) on 4p16; OFC6 ({608864}) is associated with variation in an enhancer of the IRF6 gene ({607199}) on 1q; OFC7 (see {225060}) is associated with mutation in the NECTIN1 gene ({600644}) on 11q23; OFC8 ({618149}) is caused by mutation in the TP63 gene ({603273}) on 3q28; OFC10 ({613705}) is associated with haploinsufficiency of the SUMO1 gene ({601912}) on 2q33; OFC11 ({600625}) is caused by mutation in the BMP4 gene ({112262}) on 14q22; OFC14 ({615892}) is associated with a 273-kb deleted region on 1p31; and OFC15 ({616788}) is caused by mutation in the DLX4 gene ({601911}) on 17q21.\n\nA common polymorphism in the MTR gene ({156570.0008}) has been associated with susceptibility to orofacial clefting. Cleft lip with or without cleft palate has been found in association with gastric cancer (see {137215}) in individuals with mutation in the CDH1 gene ({192090})." +119540,"Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see {119530}).\n\nDominantly inherited cleft soft palate in 4 generations has been reported ({6:Jenkins and Stady, 1980}); see {119570}." +119550,Syngnathia refers to congenital fusion of the maxilla and mandible. The fusion can be classified depending on the nature of the connecting tissue as either fibrous or bony fusion. {6:Laster et al. (2001)} proposed a classification for bony syngnathia into 4 types. Type 1a is simple anterior syngnathia characterized by bony fusion of the alveolar ridge only; type 1b is complex anterior syngnathia characterized by bony fusion of the alveolar ridges and also associated with other congenital malformations in the head and neck region; type 2a is simple mandibulozygomatic syngnathia characterized by bony fusion of the mandible to zygoma; and type 2b is complex mandibulozygomatic syngnathia characterized by bony fusion of the mandible to the zygoma and associated with cleft palate and/or temporomandibular joint ankylosis. +119570,{1:Jenkins and Stady (1980)} described a family with simple cleft palate (cleft of the soft palate) in 7 males of 5 sibships in 4 generations. +119580,"The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by {19:Weaver et al., 2010})." +119600,"The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.\n\nSee {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis ({265800}) and mandibuloacral dysplasia ({248370}) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.\n\n{28:Mundlos (1999)} provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder." +119650,"{1:Wallis et al. (1988)} reported the cases of a mother and son with an inherited skeletal disorder manifested mainly by rhizomelic short stature and lateral clavicular defects. The propositus, a 6-month-old boy, had rhizomelic shortening, particularly in the arms, and protuberances over the lateral aspects of the clavicles. On radiographs the lateral third of the clavicles had a bifid appearance resulting from an abnormal process or protuberance arising from the fusion center. The 22-year-old mother had a height of 142 cm with an arm span of 136 cm and rhizomelic shortness of the limbs, maximal in the arms, and abnormalities of the acromioclavicular joints. Both the mother and the son had marked bilateral clinodactyly of the fifth fingers associated with hypoplastic middle phalanx. {1:Wallis et al. (1988)} proposed the designation 'cleidorhizomelic syndrome,' a mnemonically felicitous choice." +119800,"Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities ({6:Cardy et al., 2007}). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, {222600}). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly ({11:Gurnett et al., 2008}; {13:Klopocki et al., 2012})." +119900,"Digital clubbing is characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx ({6:Myers and Farquhar, 2001})." +119915,"The classification for headache disorders of the {3:International Headache Society (1988)} listed the following criteria for cluster headache (CH): at least 5 attacks of severe unilateral orbital, supraorbital, and/or temporal pain, lasting 15 to 180 minutes, associated with at least 1 of 8 local autonomic signs, and occurring once every other day to 8 per day. Approximately 85% of CH patients have the episodic subtype, in which the headaches occur in cluster periods lasting from 7 days to 1 year and separated by attack-free intervals of 1 month or more. The remainder of patients have the chronic subtype, in which attacks recur for greater than 1 year without remission or with remissions lasting less than 1 month ({5:Lipton et al., 2004})." +120000,"{4:Gough (1961)} described the anomaly in father and son. He found 6 other reports of familial coarctation. In a systematic study of coarctation, {2:Boon and Roberts (1976)} discerned familial aggregation with multifactorial inheritance. Recurrence risks in sibs was about 0.5% for coarctation and 1.0% for any form of congenital heart defect. {1:Beekman and Robinow (1985)} described coarctation of the aorta in 4 generations. In 2 members of the family, mother and son, in the third and fourth generations, the coarctation was minimal; in the mother, for example, a gradient in the aorta was demonstrated mainly after peak exercise. {3:Gerboni et al. (1993)} found congenital heart disease in 5 members of 3 generations of a family. In 4 of the 5, mild or severe coarctation of the aorta, either isolated or in association with other cardiac defects, was found. In 1 fetus at risk, echocardiography at 26 weeks revealed hypoplastic left heart and severe narrowing of the aortic isthmus, which was confirmed after birth.\n\n{5:Loffredo et al. (2004)} ascertained families of 38 probands with hypoplastic left heart ({241550}), 46 with coarctation of the aorta, and 22 with d-transposition of the aorta (DTGA; {608808}), with the latter group serving as 'disease controls.' Cardiovascular malformations were detected more frequently in first-degree relatives of probands with hypoplastic left heart (19.3%) or coarctation of the aorta (9.4%) than among DTGA families (2.7%). Less than 1% of second-degree relatives were affected in all 3 groups. In third-degree relatives, cardiovascular malformations were detected in 1.8% of families with hypoplastic left heart compared to 1.2% in families with coarctation of the aorta and 0.4% in families with DTGA, The predominant types of malformation seen in relatives were left-sided obstructive lesions. {5:Loffredo et al. (2004)} stated that this confirmed the familial aggregation of congenital heart defects among infants with hypoplastic left heart and coarctation of the aorta.\n\nThe spectrum of left ventricular outflow tract obstruction (LVOTO) consists of hypoplastic left heart or left ventricle, aortic valve stenosis and bicuspid aortic valve ({109730}), hypoplastic aortic arch, and coarctation of the aorta. {7:Wessels et al. (2005)} described 4 families with presumed autosomal dominant inheritance of LVOTO. In these families, LVOTO showed a wide clinical spectrum, with some members having severe anomalies such as hypoplastic left heart and others having only minor anomalies such as mild aortic valve stenosis. {7:Wessels et al. (2005)} concluded that their findings supported the suggestion that all anomalies of the LVOTO spectrum are developmentally related and sometimes can be caused by a single gene defect.\n\n{6:McBride et al. (2005)} undertook a formal inheritance analysis of LVOTO in 124 families ascertained by an index case with aortic valve stenosis, coarctation of the aorta, or hypoplastic left heart. LVOTO malformations were noted in 30 relatives, along with significant congenital heart defects in 2 others, yielding a total of 32 (7.7%) of 413 relatives. Relative risk for first-degree relatives in this group was 36.9, with a heritability of 0.71 to 0.90. {6:McBride et al. (2005)} concluded that their data supported a complex but most likely oligogenic pattern of inheritance." +120050,"From study of somatic cell hybrids, {1:Gerald and Bruns (1978)} suggested that susceptibility to coxsackievirus B3 is determined by a locus on chromosome 19 (as is also susceptibility to poliovirus, {173850}; Echo 11 virus, {129150}; and baboon virus, {109190}). As their name indicates, the picornaviruses are very small and have RNA as their genetic material. They are among the most limited in the range of species they attack; thus, it is perhaps not surprising to find that specific genes are involved in determination of susceptibility." +120100,"Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' ({9:Kile and Rusk, 1940}) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis ({6:Hoffman et al., 2000}).\n\nOverlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; {191900}), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; {607115}), which shows earlier onset and a more severe phenotype.\n\n<Subhead> Genetic Heterogeneity of Familial Cold Autoinflammatory Syndrome\n\nSee also FCAS2 ({611762}), caused by mutation in the NLRP12 gene ({609648}) on chromosome 19q13; FCAS3 ({614468}), caused by mutation in the PLCG2 gene ({600220}) on chromosome 16q23; and FCAS4 ({616115}), caused by mutation in the NLRC4 gene ({606831}) on chromosome 2p22." +120120,"The COL7A1 gene encodes the alpha-1 chain of type VII collagen. Collagen VII is the main constituent of anchoring fibrils, which in the skin are located below the basal lamina at the dermal-epidermal basement membrane zone. The collagen VII molecules form disulfide bond stabilized dimeric aggregates by lateral accretion in a nonstaggered array ({5:Burgeson et al., 1985}).\n\n{3:Bentz et al. (1983)} isolated the collagen VII protein from human chorioamniotic membranes and found that the amino acid composition represented a distinct type of collagen composed of 3 identical alpha chains, each with a molecular mass of about 170 kD. The authors gave this collagen the trivial name 'long-chain' (LC) collagen and suggested that it be referred to as type VII collagen. Collagen VII has a triple-helical domain almost half again longer than the type I collagen triple helix." +120200,"Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by {10:Kelberman et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Ocular Coloboma\n\nA recessive form of ocular coloboma ({216820}) is caused by mutation in the SALL2 gene ({602219}) on chromosome 14q11." +120300,"{1:Clausen (1921)} described affected brother and sister who had, respectively, 2 affected sons and 2 affected daughters. {2:Davenport (1927)} described mother and son. {4:Phillips (1970)} gave a review. This should be considered agenesis, not coloboma ({3:Maumenee, 1982})." +120330,"Papillorenal syndrome (PAPRS) is an autosomal dominant disorder characterized by both ocular and renal anomalies. Less common findings include high frequency hearing loss, central nervous system anomalies, soft skin, ligamentous laxity, and/or genital anomalies, consistent with the expression of PAX2 in these tissues during development (summary by {9:Eccles and Schimmenti, 1999}; {17:Negrisolo et al., 2011}). The disorder shows wide inter- and intrafamilial variability. The renal features are part of a spectrum of malformations termed congenital anomalies of the kidney and urinary tract (CAKUT; see, e.g., {610805}), and some patients with PAX2 mutations may present with CAKUT without obvious ocular abnormalities. In these patients, ocular abnormalities may be subtle and difficult to detect without advanced screening methods or may be normal (summary by {17:Negrisolo et al., 2011}; {12:Iatropoulos et al., 2012}).\n\nEye anomalies associated with PAX2 mutations consist of a wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the periphery of the disc, designated optic nerve 'coloboma' or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease (summary by {27:Schimmenti, 2011})." +120400,"{5:Sorsby (1935)} described a mother and 5 children with bilateral pigmented macular coloboma and brachydactyly. One of the patients had unilateral absent kidney. Two other children and the father were unaffected. The skeletal defect was of the type described by {2:MacArthur and McCullough (1932)} as apical dystrophy with macular dystrophy and classified here as brachydactyly, type B ({113000}). Abnormalities are confined to the distal two phalanges. The distal phalanx may be completely absent. The distal phalanx of the thumb is usually broad or bifid. The brother and sister reported by {3:Phillips and Griffiths (1969)} in some ways resemble the patients of Sorsby. {4:Smith et al. (1980)} described a patient with severe short-limbed dwarfism and macular coloboma. Histologic changes in cartilage resembled somewhat those of diastrophic dwarfism; the chondrocytes were surrounded by a corona of densely staining material. However, some other histologic and clinical features of diastrophic dwarfism were not present.\n\n{6:Thompson and Baraitser (1988)} reported a further generation of Sorsby's original family. The proband was a 7-year-old boy referred to the genetics clinic because of deafness. The thumbs were bifid, there was aplasia or hypoplasia of the nails, and partial syndactyly between digits 3 and 4 on the left hand. The feet showed large halluces, abnormal nails, and syndactyly between the fourth and fifth toes bilaterally. Ears were protuberant, more marked on the right side. His 8-year-old brother had nearly identical anomalies of the hands and feet. Both children had congenital pigmented colobomas of both maculars associated with nystagmus and reduced visual acuity. The 7-year-old had no renal anomaly; no kidney was demonstrated on the left by intravenous pyelogram in the older brother. The younger brother had bilateral sensorineural hearing loss of 70 to 80 dB, worse at high frequencies; the older brother had normal hearing. The mother had absent right kidney and ureter, as well as uterus didelphys (double uterus) and double vagina. (The authors stated that the duplication of the uterus and vagina in the mother may or may not be part of the syndrome.) With the information added by {6:Thompson and Baraitser (1988)}, the total number of affected members of the family, in 4 generations, was 9.\n\n{1:Bacchelli et al. (2003)} recontacted 1 affected member of the family reported by {5:Sorsby (1935)} and {6:Thompson and Baraitser (1988)} and also ascertained a sporadic case with a combination of type B brachydactyly, left choroidal coloboma, and oligodontia. Direct sequencing of the entire coding region of the ROR2 ({602337}) gene, which is affected in brachydactyly type B1, revealed no mutation in either the familial or the sporadic case. A mutation in a regulatory region could not be excluded because those regions had not been characterized at the time of the study." +120435,"Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic cancer, and (2) Lynch syndrome II, or extracolonic cancer, particularly carcinoma of the stomach, endometrium (see {608089}), biliary and pancreatic system, and urinary tract ({50:Lynch and Lynch, 1979}; {51:Lynch et al., 1985}; {59:Mecklin and Jarvinen, 1991}). HNPCC disorders show a proclivity to early onset, predominant proximal location of colon cancer, a dominant pattern of inheritance, an excess of multiple primary cancers, and significantly improved survival when compared stage for stage with the American College of Surgeons Audit Series.\n\n{48:Lynch et al. (1991)} estimated that hereditary nonpolyposis colorectal cancer accounts for about 4 to 6% of colorectal cancer. The minimum criterion of HNPCC is that colorectal carcinoma is diagnosed and histologically verified in at least 3 relatives belonging to 2 or more successive generations. Moreover, the age of onset should be less than 50 years in at least 1 patient.\n\nThe Muir-Torre syndrome (MRTES; {158320}) is a form of Lynch syndrome II associated with sebaceous skin tumors.\n\n<Subhead> Genetic Heterogeneity of HNPCC\n\nHNPCC is a genetically heterogeneous disease. See also HNPCC2 ({609310}), caused by mutation in the MLH1 gene ({120436}); HNPCC4 ({614337}), caused by mutation in the PMS2 gene ({600259}); HNPCC5 ({614350}), caused by mutation in the MSH6 gene ({600678}); HNPCC6 ({614331}), caused by mutation in the TGFBR2 gene ({190182}); HNPCC7 ({614385}), caused by mutation in the MLH3 gene ({604395}). HNPCC8 ({613244}) results from epigenetic silencing of MSH2 caused by deletion of 3-prime exons of the EPCAM gene ({185535}) and intergenic regions directly upstream of the MSH2 gene.\n\nSince defects in the MSH2 gene may account for as many as 60% of HNPCC cases, and defects in the MLH1 gene may play a role in up to 30%, defects in these 2 genes likely account for the vast majority of HNPCC cases." +120440,{1:Hawkey et al. (1985)} reported lower bowel bleeding from colonic varices in adult brother and sister and the daughter of one of them. No evidence of liver disease or portal hypertension was found in any. The authors sited two other instances of familial colonic varices with normal portal pressure and concluded that the disorder represents one of venous dysplasia. +120500,"These occur at the corners of the mouth. They are frequently of pencil-lead size, from 1 to 4 mm deep and may be filled with cellular debris. Preauricular pits may be associated. {2:Everett and Wescott (1961)} found 2 cases among 1,000 school children of Portland, Oregon. {3:Witkop (1965)} and these authors found evidence of dominant inheritance but could not distinguish between autosomal and X-linked dominance. {1:Baker (1966)} found lip pits in 12% of Caucasoids and 20% of blacks. Congenital preauricular sinuses occurred more frequently in persons with pits than in those without pits." +120502,"For a phenotypic description and a discussion of genetic heterogeneity of the branchiootic syndrome, see BOS1 ({602588})." +120970,"Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina ({10:Moore, 1992}). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found ({12:Tzekov, 1998}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Cone-Rod Dystrophy\n\nThere are several other autosomal forms of CORD for which the molecular basis is known. CORD3 ({604116}) is caused by mutation in the ABCA4 gene ({601691}) on chromosome 1p22. CORD5 ({600977}) is caused by mutation in the PITPNM3 gene ({608921}) on chromosome 17p13. CORD6 ({601777}) is caused by mutation in the GUCY2D gene ({600179}) on chromosome 17p13.1. CORD7 ({603649}) is caused by mutation in the RIMS1 gene ({606629}) on chromosome 6q13. CORD9 ({612775}) is caused by mutation in the ADAM9 gene ({602713}) on chromosome 8p11. CORD10 ({610283}) is caused by mutation in the SEMA4A gene ({607292}) on chromosome 1q22. CORD11 ({610381}) is caused by mutation in the RAXL1 gene ({610362}) on chromosome 19p13. CORD12 ({612657}) is caused by mutation in the PROM1 gene ({604365}) on chromosome 4p15. CORD13 ({608194}) is caused by mutation in the RPGRIP1 gene ({605446}) on chromosome 14q11. CORD14 (see {602093}) is caused by mutation in the GUCA1A gene ({600364}) on chromosome 6p21. CORD15 ({613660}) is caused by mutation in the CDHR1 gene ({609502}) on chromosome 10q23. CORD16 ({614500}) is caused by mutation in the C8ORF37 gene ({614477}) on chromosome 8q22. CORD18 ({615374}) is caused by mutation in the RAB28 gene ({612994}) on chromosome 4p15. CORD19 ({615860}) is caused by mutation in the TTLL5 gene ({612268}) on chromosome 14q24. CORD20 ({615973}) is caused by mutation in the POC1B gene ({614784}) on chromosome 12q21. CORD21 ({616502}) is caused by mutation in the DRAM2 gene ({613360}) on chromosome 1p13. CORD22 ({619531}) is caused by mutation in the TLCD3B gene ({615175}) on chromosome 16p11.\n\nA diagnosis of CORD was made in an individual with a mutation in the AIPL1 gene ({604392.0004}) on chromosome 17p13.1, as well as in an individual with a mutation in the UNC119 gene ({604011.0001}) on chromosome 17q11.2.\n\nOther mapped loci for autosomal CORD include CORD1 ({600624}) on chromosome 18q21.1-q21.3; CORD8 ({605549}) on chromosome 1q12-q24; and CORD17 ({615163}) on chromosome 10q26.\n\nFor a discussion of X-linked forms of cone-rod dystrophy, see CORDX1 ({304020})." +121050,"Congenital contractural arachnodactyly is a rare, autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears ({17:Hecht and Beals, 1972}). It shares overlapping features with Marfan syndrome ({154700}), which is caused by mutation in the gene encoding fibrillin-1 (FBN1; {134797})." +121070,"In 4 generations of a family, {2:Hall et al. (1975)} observed a syndrome of small mouth and jaw with limited jaw movement disappearing by adulthood but with horizontal depression above the chin; mild microcephaly; ears missing the antihelix; and severe flexion contractures of the hands and feet, leading to subluxation of the fingers and clubfeet in the most severely affected child. There was no male-to-male transmission.\n\n{1:Hall et al. (1982)} reported 13 additional unrelated patients with a disorder similar to that described by {2:Hall et al. (1975)}. They termed the disorder distal arthrogryposis type IIe. Clinical features in all patients included trismus and an unusual camptodactyly in the newborn period with hyperextension of the metacarpophalangeal joint, distal flexion contractures, and variations in the degree of severity. All patients also had hip and feet involvement, and wrists were commonly flexed. Other variable features included mild developmental delay, micrognathia, horizontal groove on the chin, facial asymmetry, reduced facial expression, and high-arched palate. The inheritance pattern in 3 families was consistent with autosomal dominance. Average paternal age at conception was 36.\n\nThis disorder shows phenotypic overlap with trismus-pseudocamptodactyly syndrome ({158300})." +121200,"Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1; {601764}) by an earlier age at onset.\n\n{9:Deprez et al. (2009)} provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.\n\n<Subhead> Genetic Heterogeneity of Benign Familial Neonatal Seizures\n\nSee also BFNS2 ({121201}), which is caused by mutation in the KCNQ3 gene ({602232}) on chromosome 8q24, and BFNS3 ({608217}), which has been associated with a pericentric inversion on chromosome 5. See {269720} for a possible autosomal recessive form." +121201,"Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clonic seizures in the first few days of life. Seizures tend to last for about a minute, may occur several times a day, and are responsive to medication. Almost all patients have full remission within the first months of life, although some rare patients may have a few seizures later in childhood. EEG, brain imaging, and psychomotor development are usually normal (summary by {2:Fister et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 ({121200})." +121210,"Childhood seizures associated with febrile episodes are relatively common and represent the majority of childhood seizures. A febrile convulsion is defined as a seizure event in infancy or childhood, usually occurring between 6 months and 6 years of age, associated with fever but without any evidence of intracranial infection or defined pathologic or traumatic cause ({7:Nabbout et al., 2002}). Although the majority of patients do not develop epilepsy, the risk of developing subsequent afebrile seizures is 5 to 7 times higher in those with a history of febrile seizures compared to the general population ({1:Annegers et al., 1987}; {4:Hedera et al., 2006}).\n\nThe FEB1 locus maps to chromosome 8q13-q21.\n\n<Subhead> Genetic Heterogeneity of Familial Febrile Seizures\n\nSee FEB2 ({602477}), caused by mutation in the HCN2 gene ({602781}) on chromosome 19p13; FEB3A ({604403}), caused by mutation in the SCN1A gene ({182389}) on chromosome 2q24; FEB4 ({604352}), caused by mutation in the ADGRV1 gene ({602851}) on chromosome 5q14; FEB8 ({607681}), caused by mutation in the GABRG2 gene ({137164}) on chromosome 5q31; and FEB11 ({614418}), caused by mutation in the CPA6 gene ({609562}) on chromosome 8q13.\n\nSeveral loci for familial febrile seizures have been identified: see FEB3B ({613863}) on chromosome 2q24; FEB5 ({609255}) on chromosome 6q22-q24; FEB6 ({609253}) on chromosome 18p11; FEB7 ({611515}) on chromosome 21q22; FEB9 ({611634}) on chromosome 3p24.2-p23; and FEB10 ({612637}) on chromosome 3q26.\n\nA phenotype termed 'generalized epilepsy with febrile seizures plus' (GEFS+; {604233}) is a clinical subset of familial febrile convulsions in which affected individuals later develop afebrile seizures. GEFS+ is associated with mutations in several genes.\n\n{3:Deprez et al. (2009)} provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm." +121300,"Hereditary coproporphyria (HCP), an acute hepatic porphyria, is characterized by acute attacks of neurologic dysfunction often provoked by drugs, fasting, menstrual cycle, or infectious diseases. Skin photosensitivity may also be present. Inheritance is usually autosomal dominant, but autosomal recessive inheritance can also occur. Excretion of large amounts of coproporphyrin III, mostly in feces and urine, is observed (review by {23:Schmitt et al., 2005})." +121350,"The costocoracoid ligament (of which an autosomal dominant congenital shortness has been described; see {122580}) contains rests of chondrocytes and has the potential to ossify, notably in response to trauma. Spontaneous ossification of the costocoracoid ligament has also been reported. {2:Nutter (1941)} found radiologic evidence of ossification of the clavicular and coracoid insertions of the costocoracoid ligament in 1.2% of unselected shoulder x-rays. Formation of a true synovial joint between the insertional processes of the coracoid and the clavicle has often been described, including 1 large family in which the condition appeared to be inherited as an autosomal dominant trait ({1:De Haas et al., 1965}). In affected persons, formation of a costocoracoid joint can be either unilateral or bilateral. No medical or functional deficits have been noted." +121400,"Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA1, an autosomal dominant form of the disorder, is mild (summary by {5:Tahvanainen et al., 1996}).\n\n<Subhead> Genetic Heterogeneity of Cornea Plana\n\nAlso see CNA2 ({217300}), an autosomal recessive form of the disorder, which is severe and frequently associated with additional ocular manifestations." +121450,"In 3 of 5 brothers, {1:Hallermann and Doering (1964)} observed this combination. The brothers, aged 65 to 69, exhibited the senile type of primary ribbonlike corneal degeneration. Their father was not examined. A paternal uncle was thought to have been affected also. Although serum calcium was normal, a disturbance of calcium metabolism was suspected." +121800,"Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by {12:Nickerson et al., 2013})." +121820,"Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy characterized mainly by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. Slit lamp examination may reveal dots, maps, grayish epithelial fingerprint lines, blebs, nets, or any combination of these patterns. Histologic analysis shows abnormal redundant basement membrane and intraepithelial lacunae filled with cellular debris. Most patients are asymptomatic before the age of 30 years; some may have recurrent erosions, the frequency of which declines with age, and a loss of vision due to surface irregularity (summary by {1:Boutboul et al., 2006})." +121850,"Fleck corneal dystrophy (CFD) is a rare autosomal dominant disease characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma. Typically, the stroma located in between the flecks is clear, and the endothelium, the epithelium, Bowman layer, and Descemet membrane are normal. Patients are usually asymptomatic with normal vision, yet a small number of patients report the sensation of a minor photophobia. The flecks in CFD can appear as early as 2 years of age, or sometimes even at birth, and appear not to progress significantly throughout life. Histologically, the corneal flecks appear to correspond to abnormal keratocytes swollen with membrane-limited intracytoplasmic vesicles containing complex lipids and glycosaminoglycans (summary by {7:Kawasaki et al., 2012})." +121900,"Groenouw type I, or granular type I, corneal dystrophy (CDGG1) is an autosomal dominant disorder characterized by irregular aggregates of hyaline material in the corneal stroma. These aggregates can cause significant visual disturbance and may require corneal transplantation for restoration of visual acuity or for relief from recurrent corneal erosions (summary by {23:Stone et al., 1994})." +122000,"Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells ({17:Krafchak et al., 2005}). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life.\n\nClinically, PPCD is characterized by vesicles, bands, and polymorphous opacities at the level of the Descemet membrane and corneal endothelium. Peripheral anterior iris adhesions, iris atrophy, pupillary ectropion, and corectopia may also develop. Occasional severe visual disability results from secondary glaucoma or corneal edema. On ultrastructural examination, corneal endothelial cells show fibroblastic and epithelial-like transformation (summary by {19:Liskova et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Posterior Polymorphous Corneal Dystrophy\n\nOther forms of PPCD include PPCD2 ({609140}), caused by mutation in the COL8A2 gene ({120252}) on chromosome 1p34.3; PPCD3 ({609141}), caused by mutation in the ZEB1 gene ({189909}) on chromosome 10p; and PPCD4 ({618031}), caused by mutation in the GRHL2 gene ({608576}) on chromosome 8q22." +122100,"Meesmann corneal dystrophy-1 (MECD1) is a dominantly inherited disorder characterized by the presence of multitudinous microcysts within the anterior epithelium on slit lamp examination. The disorder can cause foreign body sensation and photophobia but is often asymptomatic and detected in the course of routine eye examination. Microcysts are evident even in asymptomatic individuals. Rarely, a more severe phenotype with corneal erosions and scarring can lead to significant loss of visual acuity requiring treatment by keratoplasty or corneal grafting. A subtle feature is the presence of gray serpiginous lines within the anterior epithelium (summary by {9:Liao et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Meesmann Corneal Dystrophy\n\nMECD2 ({618767}) is caused by mutation in the KRT3 gene ({148043}) on chromosome 12q13." +122200,"Lattice corneal dystrophy type I (CDL1) is an autosomal dominant condition characterized by deposition of amyloid in the corneal stroma. Onset occurs in the first or second decade of life and progresses over time. The anterior stroma has rod-like or linear opacities. Recurrent erosions are common and central anterior stromal haze may develop with age. The lesions usually affect the anterior and central corneas, leaving a relatively normal periphery (summary by {8:Lin et al., 2016})." +122400,"Epithelial recurrent erosion dystrophy is characterized by frequent painful recurrent corneal erosions, with onset in the first decade of life and subsequent gradual decrease in frequency, with cessation in the third or fourth decade. Small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity, in the Bowman layer and immediately subjacent anterior stroma, varying from 0.2 to 1.5 mm in diameter, appear to be clinically diagnostic of ERED ({6:Oliver et al., 2016})." +122450,{2:Purcell and Krachmer (1979)} described a family in which 6 members had corneal hypesthesia with no abnormality of skin sensation in the distribution of the fifth cranial nerve or elsewhere. The proband was a 4-year-old boy with severe diffuse asymptomatic punctate epithelial corneal erosions with bilateral sharply decreased corneal sensation. {1:Keys et al. (1990)} described a family in which the father and 2 sons had trigeminal anesthesia. In the father these clinical findings were correlated with a magnetic resonance imaging scan that clearly demonstrated the hypoplastic state of his trigeminal nerves and gasserian ganglia. The 2 affected sons were by different wives; a sister and brother were unaffected. +122470,"The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by {98:Rohatgi et al., 2010}).\n\n{14:Boyle et al. (2015)} provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling.\n\n<Subhead> Genetic Heterogeneity of Cornelia de Lange Syndrome\n\nCDLS1, caused by mutation in the NIPBL gene, accounts for about 50 to 60% of CDLS cases ({78:Musio et al., 2006}; {98:Rohatgi et al., 2010}). X-linked CDLS2 ({300590}), caused by mutation in the SMC1A gene ({300040}), accounts for about 5% of cases. CDLS3 ({610759}) is caused by mutation in the SMC3 gene ({606062}), and CDLS4 ({614701}) is caused by mutation in the RAD21 gene ({606462}). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 ({300882}), is caused by mutation in the HDAC8 gene ({300269}), the vertebrate histone deacetylase of SMC3." +122550,"Much more attention has been devoted to the genetic determinants of specific steps of corticosteroid biosynthesis than to the enzyme-catalyzed reactions by which corticosteroids are degraded. {5:Walker et al. (1983)} studied the corticosteroid side-chain isomerases that catalyze the interconversion of the ketol and aldol side chains. In the mouse, they showed that the level of isomerase activity is under genetic control and that the genetic determinant is linked to the major histocompatibility complex, H-2, on chromosome 17. Isomerase activity was found to be low in C57BL/6 mice and almost twice as high in BALB/c mice. Analysis of hybrids and backcrosses of these hybrids indicated that isomerase levels are controlled by a single autosomal, 2-allele locus with high activity dominant. The linkage to H-2 was established from study of recombinant inbred strains, with corroboration from other crosses and observations. Linkage to MHC of man (on chromosome 6) should be sought. In mice, H2 is associated with differential sensitivity to glucocorticoids ({3:Pla et al., 1975}; {4:Tyan, 1979}; {2:Gupta and Goldman, 1982}). {1:Erickson et al. (1985)} found something similar in man." +122700,"Warfarin is a widely prescribed anticoagulant for the prevention of thromboembolic diseases for subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement. The dose requirement is highly variable, both interindividually and interethnically ({27:Yuan et al., 2005}).\n\nVariation in the VKORC1 gene is believed to be the most important individual predictor of warfarin dose, accounting for about 30% of the variance observed in dosing ({17:Ross et al., 2010})." +122780,"{1:Duca et al. (1981)} described mother and her 3 daughters with short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with deafness. See {2:Wettke-Schafer and Kantner (1983)} for discussion of possible X-linked dominant inheritance with lethality in hemizygous males." +122850,"{1:Grosse (1974)} described associated cardiac, craniofacial and hand anomalies in a father and daughter. The cardiac defect was combined ventricular septal defect and pulmonic stenosis. The craniofacial 'defect' consisted mainly of narrow head and face. Very minor abnormalities were present in the hands, e.g., Dupuytren contractures in the father." +122860,"Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by {2:Brueton and Winter, 1990}). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by {4:Kim et al., 2011})." +122880,"Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder characterized by dysmorphic facial features, hand abnormalities, absent or hypoplastic nasal and wrist bones, and severe sensorineural hearing impairment (summary by {3:Gad et al., 2008})." +123000,"Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, which may finally result in hearing loss and facial palsy (summary by {16:Nurnberg et al., 1997}).\n\nThe delineation of separate autosomal dominant and autosomal recessive (CMDR; {218400}) forms of CMD by {7:Gorlin et al. (1969)} was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous." +123100,"Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {8:Fitzpatrick, 2013}). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis.\n\n<Subhead> Genetic Heterogeneity of Craniosynostosis\n\nCraniosynostosis-2 (CRS2; {604757}) is caused by mutation in the MSX2 gene ({123101}) on chromosome 5q35. Craniosynostosis-3 (CRS3; {615314}) is caused by mutation in the TCF12 gene ({600480}) on chromosome 15q21. Craniosynostosis-4 (CRS4; {600775}) is caused by mutation in the ERF gene ({611888}) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5; {615529}) is conferred by variation in the ALX4 gene ({605420}) on chromosome 11p11. Craniosynostosis-6 (CRS6; {616602}) is caused by mutation in the ZIC1 gene ({600470}) on chromosome 3q24. Susceptibility to craniosynostosis-7 (CRS7; {617439}) is conferred by variation in the SMAD6 gene ({602931}) on chromosome 15q22." +123150,"Jackson-Weiss syndrome (JWS) is an autosomal dominant condition consisting of craniosynostosis characterized by premature fusion of the cranial sutures as well as radiographic anomalies of the feet (summary by {5:Heike et al., 2001})." +123400,"The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and associated with coding mutations in the PRNP gene. Acquired prion diseases include iatrogenic CJD, kuru ({245300}), variant CJD (vCJD) in humans, scrapie in sheep, and bovine spongiform encephalopathy (BSE) in cattle. Variant CJD is believed to be acquired from cattle infected with BSE. However, the majority of human cases of prion disease occur as sporadic CJD (sCJD) ({16:Collinge et al., 1996}; {61:Parchi et al., 2000}; {40:Hill et al., 2003}).\n\n{43:Johnson and Gibbs (1998)} provided a comprehensive review of Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies.\n\n{68:Tyler (2003)} described the characteristics of sporadic CJD as encapsulated by C. Miller Fisher in 1960." +123450,"Cri-du-chat syndrome was first described by {10:Lejeune et al. (1963)} as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents." +123500,"Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism ({26:Reardon et al., 1994}; {15:Glaser et al., 2000})." +123550,"{4:Nightingale et al. (1977)} described affected mother and 4 children. The proband developed hematuria and anasarca at age 12, and showed progressively deteriorating renal function thereafter. At age 39 the mother was found to have mild hypertension, proteinuria, an 'active urine sediment' and elevated serum creatinine. The proband, mother, and 3 sibs had a mixed IgG-IgA-IgM cryoglobulinemia. In later studies, {2:Nightingale and Pelley (1981)} found 10 members of 3 generations of the family to have IgM-IgG cryoglobulins and rheumatoid factor; another member had rheumatoid factor but no cryoglobulins. {2:Nightingale and Pelley (1981)} described an antigen, first identified on the IgM cryoglobulin of the proband, which was present in the serum of all 11 members of the family with rheumatoid factor. This antigen had the serologic properties of an IgM rheumatoid factor idiotype. {3:Nightingale et al. (1981)} concluded that inheritance of 'essential' mixed cryoglobulinemia was autosomal dominant; there were 2 instances of father-to-son transmission. No underlying disease that could account for cryoglobulinemia was found in any patient. No linkage to HLA, blood groups, or immunoglobulin Gm allotypes was found. Although the rheumatoid factors in this kindred reacted with some human IgG, they were not antibodies to any known Gm or Km allotype. Cryoglobulinemia with systemic manifestations has acquired the name of Meltzer syndrome." +123557,"Cryptotia is a congenital auricular deformity in which the upper pole of the cartilage is buried beneath the scalp. The incidence of cryptotia is said to be higher among Japanese than Caucasians and to be approximately 1 in 400 ({1:Hayashi et al., 1993}). Six individuals in 2 generations, with 2 instances of male-to-male transmission, were affected in the family reported by {1:Hayashi et al. (1993)}." +123560,"{1:Tonoki et al. (1988)} described bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toenails, and excess fingertip arch patterns in a mother and son who were chromosomally and mentally normal. The middle and distal phalanges of digits II through V were abnormally short. The son was noted at birth to have a bifid scrotum and chordee without hypospadias." +123570,"Cryptophthalmos is a condition of eyelid malformation with an underlying malformed eye. Complete, incomplete, and symblepharon varieties exist. The skin in complete cryptophthalmos extends uninterrupted from the forehead to the cheek. In the incomplete form, there is medial eyelid fusion, but coincident intact lateral structures. The symblepharon variety presents with fusion of the upper eyelid skin to the superior aspect of the globe. The complete variety is the most common form (summary by {4:Egier et al., 2005})." +123700,"Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by {5:Davidson and Giro, 2002}).\n\nAutosomal dominant congenital cutis laxa (ADCL) is genetically heterogeneous and shows clinical variability. The characteristic loose skin may be accompanied by gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema (summary by {7:Graul-Neumann et al., 2008}).\n\nLoose, inelastic skin is a clinical feature of many disorders, e.g., geroderma osteodysplasticum (GO; {231070}) and Costello syndrome ({218040}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Cutis Laxa\n\nAlso see ADCL2 ({614434}), caused by mutation in the FBLN5 gene ({604580}) on chromosome 14q32, and ADCL3 ({616603}), caused by mutation in the ALDH18A1 ({138250}) gene on chromosome 10q24." +123790,"Beare-Stevenson cutis gyrata syndrome (BSTVS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities, and early death (summary by {6:Przylepa et al., 1996})." +123853,"In 3 generations of a Greek Cypriot family, {1:Middleton et al. (1992)} described what appeared to be a new hereditary syndrome characterized by specific and striking facial characteristics and more variable skeletal deformities, as well as neuromuscular abnormalities. The facial appearance consisted of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, elevation of the medial portion of the eyebrows bilaterally 'giving a Mephistophelian appearance,' hypertelorism, and widow's peak. The variable skeletal features included congenital talipes equinovarus, and dislocation of the hips, as well as kyphoscoliosis. Neurologic and musculoskeletal defects were severe and incapacitating in some. All affected members were of normal intelligence. One member of the family who was thought to have only mild facial manifestations of the disorder was found on examination to have marked kyphoscoliosis, weakness and wasting of arms and legs, and mild sensory changes." +123880,"{3:Reid et al. (1989)} described a family in which 12 persons in 4 generations had diffuse cystic angiomatosis of bone. The affected individuals were asymptomatic. Roentgenographically, the lesions occurred throughout the length of long bones and were osteolytic, with a thin sclerotic rim. The cortex of the bone was rarely involved and showed no periosteal reaction. Growth plate closure and remodeling were unaffected. With age, increasing sclerosis occurred, resulting in complete obliteration of the cyst with irregular reactive trabeculations. Five of the affected individuals were female. There were several examples of male-to-male transmission. Cystic angiomatosis of bone includes both hemangiomatosis and lymphangiomatosis. The disorder is different from monocentric massive osteolysis, which goes by the name of Gorham ({2:Gorham and Stout, 1955}) and appears to be nonmendelian.\n\n{1:Devlin et al. (1996)} studied a patient with Gorham-Stout disease (GSD) who had massive resorption of his mandible, which extended to the maxilla, zygoma, right parietal region, and cranium. They tested the effects of the patient's serum, sampled both early in the course of treatment and later after the osteolysis was 'stabilized.' It was 'stabilized' on the formation of osteoclast-like multinuclear cells (MNCs) in cultures of normal human marrow. The serum in 10% by volume dilution markedly increased the number of MNCs formed in cultures of normal serum as well as stimulated the formation of resorption pits by MNCs on dentine slices. Serum collected after further therapy did not enhance the number of MNCs formed in marrow cultures compared to those formed in normal serum. Elevated levels of IL6 ({147620}) were detected in the early GSD serum that were 7 times the upper limit of the normal range, and after further treatment, IL6 levels fell to one quarter of the pretreatment value. The levels of IL-1-beta ({147720}), tumor necrosis factor-alpha ({191190}), transforming growth factor-alpha ({190170}), PTH ({168450}), and PTH-related peptide ({168470}) were not increased in pretreatment serum. Moreover, the addition of neutralizing antibodies to IL6 to the normal human bone marrow cultures effectively blocked the increase in multinucleated cell formation induced by active GSD serum. In this patient mandibular osteolysis was said to have followed a blow to the chin at age 9 years. The patient was initially treated for suspected osteomyelitis, but there was no response to antibiotics. At the age of 10 years, biopsy of the right zygoma yielded findings consistent with the diagnosis of GSD. Daily subcutaneous injections of calcitonin resulted in a decline in the rate of bone resorption. The patient then received infusions of pamidronate every 3-4 months, and there was no further enlargement of the lytic lesions. Because of deformation of the softened skull base, he was placed on cervical traction with halo apparatus, and radiation therapy was administered. The first serum specimen was obtained after the calcitonin therapy and initial pamidronate treatments. The second specimen was obtained about 9 months later, after additional courses of pamidronate and the radiation therapy. A year after radiation therapy, a successful cervical fusion was performed." +124000,"Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival ({2:de Lonlay et al., 2001}; {3:De Meirleir et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex III Deficiency\n\nMitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 ({615157}), caused by mutation in the TTC19 gene ({613814}) on chromosome 17p12; MC3DN3 ({615158}), caused by mutation in the UQCRB gene ({191330}) on chromosome 8q; MC3DN4 ({615159}), caused by mutation in the UQCRQ gene ({612080}) on chromosome 5q31; MC3DN5 ({615160}), caused by mutation in the UQCRC2 gene ({191329}) on chromosome 16p12; MC3DN6 ({615453}), caused by mutation in the CYC1 gene ({123980}) on chromosome 8q24; MC3DN7 ({615824}), caused by mutation in the UQCC2 gene ({614461}) on chromosome 6p21; MC3DN8 ({615838}), caused by mutation in the LYRM7 gene ({615831}) on chromosome 5q23; MC3DN9 ({616111}), caused by mutation in the UQCC3 gene ({616097}) on chromosome 11q12; and MC3DN10 ({618775}), caused by mutation in the UQCRFS1 gene ({191327}) on chromosome 19q12.\n\nSee also MTYCB ({516020}) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene." +124060,"The CYP1A2 gene encodes a P450 enzyme involved in O-deethylation of phenacetin. It is 1 of several forms of cytochrome P-450 that have been purified to electrophoretic homogeneity from human liver microsomes ({6:Guengerich et al., 1986}). P1-450 (CYP1A1; {108330}) and P3-450 are 2 members of the dioxin-inducible P450 gene family." +124080,"The CYP11B2 gene encodes a steroid 11/18-beta-hydroxylase ({EC 1.14.15.5}) that functions in mitochondria in the zona glomerulosa of the adrenal cortex to synthesize the mineralocorticoid aldosterone. The enzyme catalyzes all 3 necessary reactions: the 11-beta-hydroxylation of 11-deoxycorticosterone (11-DOC) to corticosterone (B); the 18-hydroxylation of corticosterone to 18-hydroxycorticosterone (18-OHB); and the 18-oxidation of 18-hydroxycorticosterone to aldosterone ({25:Pascoe et al., 1992}).\n\nCYP11B2 shows high homology to the CYP11B1 gene ({610613}), which encodes a steroid 11-beta-hydroxylase. Both genes map to chromosome 8q21." +124100,"The endemic nephropathy commonly called 'Balkan' is more properly called Danubian. It occurs in a relatively restricted rural area of Roumania, Bulgaria and Yugoslavia near the Danubian Iron Gates. Clinical, epidemiologic and laboratory investigations are thought to have excluded selected forms (although not necessarily all forms) of infection, parasitism, intoxication, and radiation. 'No genetic factors are evident. Of paramount importance are household factors and living conditions' ({1:Craciun and Rosculescu, 1970}). On the other hand these authors state that 'the disease in a family may disappear within two or three generations.' The histologic end stage of the kidney lesion is thought to be a form of primary amyloidosis.\n\nNephropathia epidemica (NE) is endemic in Scandinavia, European Russia, and the Balkans ({4:Lee and van der Groen, 1989}). {5:Mustonen et al. (1996)} stated that the causative agent, Puumala virus, is a member of the hantavirus genus. Korean hemorrhagic fever is caused by one hantavirus serotype and the Balkan form by another. The natural host of hantaviruses are chronically but asymptomatically infected rodents and insectivores, which transmit the virus to humans in their excretions. Transmission from human to human has not been reported. A hantavirus pulmonary syndrome was described by {3:Duchin et al. (1994)} in U.S. patients. There is considerable variability in the clinical severity of NE. As judged from the seroprevalence in Finland (6%), many infections must be subclinical or undiagnosed. In 74 adult patients with NE, {5:Mustonen et al. (1996)} found that patients with the most severe course of the disease had a very high frequency of HLA-B8 ({142830}), C4A*Q0 ({120810}), and DRB1*0301 ({142857}) alleles. HLA-B8 was found in all 7 cases (100%) with shock and in 9 of the 13 (69%) patients who required dialysis, versus only 25 of 74 (34%) in the entire population, and 14 of 93 (15%) controls.\n\n{7:Toncheva and Dimitrov (1996)} performed chromosome studies of healthy relatives of patients with Balkan endemic nephropathy who were born in nonendemic areas and found a high frequency of abnormalities at 3q25. The authors concluded that an increased frequency of nonrandom 3q25 aberrations may be involved in the development of the disease even in the absence of exposure to a 'BEN' environment. {8:Toncheva et al. (1988)} observed mosaicism for t(1;3)(q11.2;q25) in a patient with BEN.\n\n{6:Stefanovic (1998)} interpreted the accumulating evidence that BEN is an environmentally induced disease. Weathering of low-rank coals near the villages where BEN is endemic produces water-soluble polycyclic aromatic hydrocarbons and aromatic amines, similar to metabolic products of acetaminophen that cause analgesic nephropathy. Familial aggregation of BEN was first described by {2:Danilovic et al. (1957)}. {6:Stefanovic (1998)} pointed out that the development of BEN in emigrants from the endemic region who resettled far away supports the role of inheritance in the disorder. An increased incidence of tumors of the renal pelvis and ureter in the population from endemic settlements has been observed. Familial clustering of urinary tract tumors was also reported from these areas." +124200,"Darier-White disease, also known as keratosis follicularis, is an autosomal dominant skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead), palmoplantar pits, and distinctive nail abnormalities ({22:Sakuntabhai et al., 1999}). Onset is usually before the third decade, and penetrance is complete in adults, although expressivity is variable. Involvement may be severe, with widespread itchy malodorous crusted plaques, painful erosions, blistering, and mucosal lesions. Secondary infection is common. Sun, heat, and sweating exacerbate the symptoms. Darier disease never remits, but oral retinoids may reduce hyperkeratosis. Neuropsychiatric abnormalities, including mild mental retardation and epilepsy, have been described in association with Darier disease in a few families ({3:Burge and Wilkinson, 1992}); whether this is an association based on pleiotropism of the mutant gene or reflects coincidence is not clear. Histologic findings are (1) mild nonspecific perivascular infiltration in the dermis; (2) dermal villi protruding into the epidermis; (3) suprabasal detachment of the spinal layer leading to the formation of lacunae containing acantholytic cells; (4) in the more superficial epidermis, dyskeratotic round epidermal cells ('corps ronds'), the most distinctive feature; and (5) in the stratum corneum, 'grains' that resemble parakeratotic cells embedded in a hyperkeratotic horny layer. Electron microscopy reveals loss of desmosomal attachments, perinuclear aggregations of keratin filaments, and cytoplasmic vacuolization. Ultrastructural and immunologic studies suggest the disease results from an abnormality in the desmosome-keratin filament complex leading to a breakdown in cell adhesion." +124400,{1:Quelprud (1935)} did an extensive twin and family study. +124480,"The DDOD syndrome is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy. Conical, hypoplastic teeth is also a feature ({7:Robinson et al., 1962}).\n\nSee also DOOR syndrome ({220500}), an autosomal recessive disorder, which includes congenital deafness, onychodystrophy, osteodystrophy, and mental retardation." +124490,"{1:Sellars and Beighton (1983)} reported a seemingly 'new' syndrome of conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. Three sibs and their mother, of Asiatic Indian ancestry, were affected. Surgery on the middle ear was partially effective." +124500,"Classic Vohwinkel syndrome is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation, distinctive starfish-like acral keratoses, and moderate degrees of sensorineural deafness (summary by {9:Maestrini et al., 1999})" +124700,"Onset is in childhood and the range affected is 500 to 4000 cps. {3:Williams and Roblee (1962)} described affected mother and 3 of her 6 children. This disorder was well delineated by {1:Konigsmark et al. (1970)} who emphasized that it can be progressive, contrary to the conclusion of {3:Williams and Roblee (1962)}. They observed 4 families, 2 of which were extensively affected. They pointed out that the family reported by {2:Martensson (1960)} may have had the same disorder." +124900,"DFNA1 is an autosomal dominant form of progressive hearing loss with onset in the first decade. Some patients have mild thrombocytopenia and enlarged platelets, although most of these individuals do not have significant bleeding tendencies (summary by {6:Neuhaus et al., 2017})." +124950,"{2:Stewart (1973)} has informed me of a remarkable family in which a woman, a son and daughter, and the daughter of the daughter had a syndrome of early-onset sensorineural deafness, skin rash, headache, peripheral arterial disease (leading to gangrene after a small dose of ergotamine), peripheral neuropathy, elevation of spinal fluid protein and cells, papilledema, and contracted retinal arteries. Mild saddle nose was present. The family was reported by {1:Campbell and Clifton (1950)} as an example of familial toxoplasmosis, a diagnosis based on serologic findings and no longer considered tenable." +125250,"Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes ({18:Yu-Wai-Man et al., 2010})." +125260,"Cultured cells of many species infected with RNA or DNA viruses have been shown to produce not only standard reference virions but also defective virus particles which interfere with the replication of their parental infectious viruses. This phenomenon is known as homologous viral interference and the substances produced are referred to as defective interfering (DI) particles. It has been postulated that these are involved in overcoming viral infections. {1:Kang et al. (1981)} studied the role of the host cell in the induction of DI particles. In human-mouse somatic cell hybrids, they found that generation of DI particles was correlated with the absence or presence of chromosome 16. The human parental cell line did not synthesize DI particles when infected with vesicular stomatitis virus and the hybrid cells also did not, when chromosome 16 was present." +125280,"Dens evaginatus involves an outfolding of the enamel organ in such a way that the occlusal surface of the affected posterior tooth has a tuberculated appearance. When these evaginations are fractured off, pulpal exposure may result. Few familial cases have been reported. However, a genetic basis was supported by {1:Bixler (1976)} on the following grounds: 1) the anomaly has been found almost only in persons of Mongoloid ancestry, although it has been observed in all parts of the world, and 2) the prevalence in persons of mixed Mongoloid ancestry is lower than in 'pure' groups. {2:Stewart et al. (1978)} observed dens evaginatus in several members of a family of Guatemalan Indian descent. Father and 2 daughters were affected." +125300,"Dens in dente and deep palatal invaginations (lingual pits) of the secondary maxillary lateral incisors may be inherited as an autosomal dominant. {1:Grahnen et al. (1959)} found in a study of 3,000 Swedish children a frequency of about 3%. In 58 families studied, a similar defect was found in over one-third of parents. In the same family some had dens in dente and others had deep lingual pits. Lingual pits offer a favorable setting for development of caries." +125310,"Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a progressive disorder of the small arterial vessels of the brain manifest by migraine, strokes, and white matter lesions, with resultant cognitive impairment in some patients (review by {17:Kalimo et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy\n\nCADASIL2 ({616779}) is caused by mutation in the HTRA1 gene ({602194}) on chromosome 10q26." +125320,"{1:Rosenberg et al. (1989)} described a family in which 14 persons in 5 generations suffered from severe dementia and parkinsonism. In 2 autopsied members of the family, neuropathologic correlations consisted of extracellular hyaline eosinophilic, congophilic amyloid plaques in the cerebral cortex, basal ganglia, thalamus, and substantia nigra, in descending order of frequency, as well as atrophy and gliosis of the basal ganglia and substantia nigra. The extracellular plaque did not stain with antibody raised against the prion protein or with 2 separate anti-amyloid A4 antibodies. Although no instance of male-to-male transmission was identified in the family, the inheritance was thought to be autosomal dominant. Both Alzheimer disease and Gerstmann-Straussler syndrome could be excluded by the properties of the amyloid." +125350,"Primary failure of tooth eruption (PFE) is an autosomal dominant disorder in which nonankylosed posterior teeth fail to move along the eruption path cleared for them, resulting in a posterior open bite. Failure of affected teeth to respond to orthodontic force is a key characteristic (summary by {6:Frazier-Bowers et al., 2007}).\n\nSee also {157950} and {273050} for phenotypes with shared features of PFE." +125370,"Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder with protean clinical manifestations consisting of various combinations of myoclonus, seizures, ataxia, choreoathetosis, and dementia. The clinical presentation correlates with the size of the causative CAG repeats, and as such, affected family members can present with very different patterns of the disorder (summary by {42:Vinton et al., 2005})." +125400,"In dentin dysplasia type I, both primary and secondary dentitions are affected. The color and general morphology of the teeth are usually normal, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed than normal. Pulp chambers are usually absent except for a chevron-shaped remnant in the crown ({15:Witkop, 1975}). Root canals are usually absent. Periapical radiolucencies may be present at the apices of affected teeth, for reasons unknown. On light microscopic examination of the permanent teeth, the coronal dentin is normal, but further apically becomes irregular, fills the pulp chamber, and has a 'sand-dune' morphology. Scanning electron microscopic studies of the deciduous and permanent teeth have been reported ({13:Sauk et al., 1972}; {9:Melnick et al., 1980}).\n\n<Subhead> Subclassification of Dentin Dysplasia Type I\n\n{12:O Carroll et al. (1991)} and {11:O Carroll and Duncan (1994)} reviewed dentin dysplasia and proposed 4 subtypes of dentin dysplasia type I, which they designated as DD1a-d. In DD1a, there is complete obliteration of pulp chambers and no root development, with many periapical radiolucent areas. In DD1b, there are horizontal crescent-shaped radiolucent pulpal remnants and a few millimeters of root development, with many periapical radiolucent areas. DD1c shows 2 horizontal crescent-shaped radiolucent lines and significant but incomplete root development, with or without periapical radiolucent areas. DD1d is characterized by visible pulp chambers and oval pulp stones in the coronal third of the root canal with bulging of the root around the stones and few if any periapical radiolucent areas. The authors noted that the distinctions between the subtypes of DD1 were primarily useful clinically in terms of treatment options." +125420,"Dentin dysplasia type II is a defect of dentin formation in which the clinical appearance of the secondary teeth is normal, but the primary teeth may appear opalescent, similar to teeth affected by dentinogenesis imperfecta. The roots of the teeth are of normal shape and morphologic character. The pulp chambers and root canals of the anterior teeth and the premolars are shaped like thistle tubes because of the radicular extension of the pulp chamber. Most teeth show accumulations of pulp stones in these unusually shaped pulp chambers (summary by {5:Kalk et al., 1998}).\n\nAlso see dentin dysplasia type I (DTDP1; {125400})." +125460,"{2:Truscott et al. (1979)} described excretion of a number of metabolites of 2-deoxyribose in a patient who was thought to have cataracts and developmental delay. {1:Chappel et al. (1983)} presented evidence that the patient had deficiency of deoxyribose-5-phosphate aldolase ({EC 4.1.2.4}). Further assessment of the patient led to the conclusion that he did 'not have true cataracts' and that his mildly delayed development was possibly explained by his social circumstances. They concluded that deoxyribose-5-phosphate aldolase deficiency is a harmless inborn error of metabolism. The male patient was the only child of unrelated Greek parents. The patient showed no activity of the enzyme in red cells; the mother showed an intermediate level. The father was not available for study. Thus, the state could be X-linked recessive." +125480,"Bipolar affective disorder is a genetically heterogeneous complex trait. One susceptibility locus for bipolar disorder, MAFD1, has been mapped to chromosome 18p.\n\nOther mapped loci include MAFD2 ({309200}) on chromosome Xq28, MAFD3 ({609633}) on chromosome 21q22, MAFD4 ({611247}) on chromosome 16p12, MAFD7 ({612371}) on chromosome 22q12, MAFD8 ({612357}) on chromosome 10q21, and MAFD9 ({612372}) on chromosome 12p13.\n\nEpistatic interaction has been postulated for loci designated MAFD5 ({611535}) on chromosome 2q22-q24 and MAFD6 ({611536}) on chromosome 6q23-q24." +125540,"Disturbance of ridge formation resulting in scattered short ridges or in ridges simply comprised of irregular dots is a feature in patients with Down syndrome and in some patients with limb malformations. It has also been observed as a familial disorder apparently transmitted as an autosomal dominant. Most earlier cases were reported from Japan (references in {5:Holt, 1968}) but it has also been reported in a Belgian pedigree by {2:Dodinval (1972)}. Members of the family reported by {3:Dodinval et al. (1971)} had 'chapping' of the skin of the fingerpads. {4:Green and Thomas (1978)} found that cultures made from disaggregated human epidermal cells grow into a confluent cell layer, followed by emergence of patterns resembling those of human dermatoglyphics. It would be of interest to study cultured epidermal cells from persons with this disorder and persons with absence of fingerprints ({136000}). Also see Basan syndrome ({129200})." +125570,"Dermal ridge patterns are the result of the interaction of 2 embryologic processes: the formation and later regression of the volar pads between the eighth and twelfth week of gestation and dermal ridge differentiation at around the twelfth week of gestation. The size and shape of the volar pad at the time of ridge differentiation influences the ultimate ridge pattern: in general, if the pad is large, a whorl will be formed, whereas if the pad is small, a plain arch will be formed. A loop is an intermediate pattern. In Caucasians, the loop is the most common pattern, and the arch is a rare pattern comprising 4 to 5% of fingertip patterns in the population. Fingertip arches are more common in females than males ({3:Reed et al., 2006})." +125580,"Dermatoglyphics, as defined by finger ridge count, are considered a classic example of polygenic inheritance in man ({1:Holt, 1968}). Analysis of data by {2:Spence et al. (1973)} led to the suggestion that a single major autosomal locus with 2 additive alleles may account for over half the variation in absolute ridge count." +125590,"{1:Slatis et al. (1976)} studied fingerprint patterns in an Israel isolate. On the basis of the data they suggested the operation of individual genes in determining fingerprint pattern. An assumption is that the basic pattern is all ulnar loops and that a variety of genes cause deviations from the basic pattern. These include (1) a semidominant gene for whorls on the thumbs (one homozygote has whorls on both thumbs, the other homozygote has ulnar loops on both thumbs, and the heterozygote has two ulnar loops or one ulnar loop and one whorl); (2) a semidominant gene for whorls on the ring fingers that acts like the gene for whorls on the thumbs; (3) a dominant gene for arches on the thumbs and often on other fingers; (4) one or more dominant genes for arches on the fingers; (5) a dominant gene for whorls on all fingers except for an ulnar loop on the middle finger; (6) a dominant gene for radial loops on the index fingers, frequently associated with an arch on the middle fingers; and (7) a recessive gene for radial loops on the ring and little fingers. They suggested that these genes may act independently or epistatically.\n\nOther fingerprint anomalies include variation in ridge count ({125580}), arch pattern ({125570}), patternless ridges ({125540}), dermal ridges-off-the-end ({125550}), Nelson syndrome and dermal ridges ({125530}), and plain radial loop on right index finger ({312200}).\n\nAlso see adermatoglyphia ({136000}), which is caused by mutation in the SMARCAD1 gene ({612761}) on chromosome 4q22.3, and adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities ({129200})." +125595,"Dermatopathia pigmentosa reticularis is a rare heritable disorder consisting of a triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis ({1:Heimer et al., 1992})." +125600,"Although nothing is clearly established about the genetics of this disorder, the occurrence predominantly in blacks is consistent with a genetic basis. As many as 35% of adult blacks may be affected. The disorder is somewhat more frequent in females. The papules occur most typically on the face below the eyes and on the cheeks. {2:Castellani (1925)} described and named this disorder, which he found to be very frequent among the blacks of Jamaica and Central America. The lesions are black and dark-brown papules, sometimes cupoliform or at times flattened; they are situated on the face, principally on both malar regions, being rare or absent on the lower parts of the face and chin. Onset is usually about the time of puberty. {1:Butterworth and Strean (1962)} expressed the opinion that this condition is merely a variant of seborrheic keratoses that occurs predominantly in blacks." +125630,"Autosomal dominant vibratory urticaria is characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum ({1:Boyden et al., 2016})." +125635,"Dermographism is a form of urticaria in which a single stroke or scratch of the skin produces a localized wheal with surrounding red flare. It is the most common form of physical urticaria. Although familial cold urticaria ({120100}) is well known, the first report of familial dermographism is apparently that by {3:Jedele and Michels (1991)}. They observed 5 affected individuals in 4 generations with no male-to-male transmission. They illustrated the wheal formation on the skin of the back after a single stroke with moderate pressure." +125700,"Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood (summary by {28:Wahlstrom et al., 2004})." +125800,"Nephrogenic diabetes insipidus (NDI) is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; {192340}). Approximately 90% of patients are males with the X-linked recessive form, type I (NDI1; {304800}), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2; {300538}). The remaining 10% of patients have the autosomal form, type II (NDI2), caused by mutation in the AQP2 gene ({11:Morello and Bichet, 2001}).\n\nNeurogenic, or central, diabetes insipidus (CDI; {125700}) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13." +125851,"MODY is a form of NIDDM ({125853}) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see {606391}.\n\nIn a review of the various forms of MODY, {2:Fajans et al. (2001)} stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene. Heterozygous mutations in glucokinase are associated with a mild form of nonprogressive hyperglycemia that is usually asymptomatic at diagnosis and is treated with diet alone. The mild fasting hyperglycemia with blood glucose concentrations of 110 to 145 mg/deciliter and impaired glucose tolerance in most affected carriers may be recognized by biochemical testing at a young age, possibly as early as birth. About 50% of the women who are carriers may have gestational diabetes. Less than 50% of the carriers have overt diabetes; many of those who do are obese or elderly. Two percent of MODY2 patients require insulin therapy. Diabetes-associated complications are rare in this form of MODY. MODY was found in 13% of the Caucasian NIDDM families collected in France by {4:Froguel et al. (1991)}. {5:Gidh-Jain et al. (1993)} found that GCK mutations accounted for 56% of MODY families in France." +125853,"Type 2 diabetes mellitus is distinct from maturity-onset diabetes of the young (see {606391}) in that it is polygenic, characterized by gene-gene and gene-environment interactions with onset in adulthood, usually at age 40 to 60 but occasionally in adolescence if a person is obese. The pedigrees are rarely multigenerational. The penetrance is variable, possibly 10 to 40% ({18:Fajans et al., 2001}). Persons with type 2 diabetes usually have an obese body habitus and manifestations of the so-called metabolic syndrome (see {605552}), which is characterized by diabetes, insulin resistance, hypertension, and hypertriglyceridemia.\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Type 2 Diabetes\n\nSusceptibility to T2D1 ({601283}) is conferred by variation in the calpain-10 gene (CAPN10; {605286}) on chromosome 2q37. The T2D2 locus ({601407}) on chromosome 12q was found in a Finnish population. The T2D3 locus ({603694}) maps to chromosome 20. The T2D4 locus ({608036}) maps to chromosome 5q34-q35. Susceptibility to T2D5 ({616087}) is conferred by variation in the TBC1D4 gene ({612465}) on chromosome 13q22.\n\nA mutation has been observed in hepatocyte nuclear factor-4-alpha (HNF4A; {600281.0004}) in a French family with NIDDM of late onset. Mutations in the NEUROD1 gene ({601724}) on chromosome 2q32 were found to cause type II diabetes mellitus in 2 families. Mutation in the GLUT2 glucose transporter was associated with NIDDM in 1 patient ({138160.0001}). Mutation in the MAPK8IP1 gene, which encodes the islet-brain-1 protein, was found in a family with type II diabetes in individuals in 4 successive generations ({604641.0001}). Polymorphism in the KCNJ11 gene ({600937.0014}) confers susceptibility. In French white families, {83:Vionnet et al. (2000)} found evidence for a susceptibility locus for type II diabetes on 3q27-qter. They confirmed the diabetes susceptibility locus on 1q21-q24 reported by {17:Elbein et al. (1999)} in whites and by {35:Hanson et al. (1998)} in Pima Indians. A mutation in the GPD2 gene ({138430.0001}) on chromosome 2q24.1, encoding mitochondrial glycerophosphate dehydrogenase, was found in a patient with type II diabetes mellitus and in his glucose-intolerant half sister. Mutations in the PAX4 gene ({167413}) have been identified in patients with type II diabetes. {78:Triggs-Raine et al. (2002)} stated that in the Oji-Cree, a gly319-to-ser change in HNF1-alpha ({142410.0008}) behaves as a susceptibility allele for type II diabetes. Mutation in the HNF1B gene ({189907.0007}) was found in 2 Japanese patients with typical late-onset type II diabetes. Mutations in the IRS1 gene ({147545}) have been found in patients with type II diabetes. A missense mutation in the AKT2 gene ({164731.0001}) caused autosomal dominant type II diabetes in 1 family. A (single-nucleotide polymorphism) SNP in the 3-prime untranslated region of the resistin gene ({605565.0001}) was associated with susceptibility to diabetes and to insulin resistance-related hypertension in Chinese subjects. Susceptibility to insulin resistance has been associated with polymorphism in the TCF1 ({142410.0011}), PPP1R3A ({600917.0001}), PTPN1 ({176885.0001}), ENPP1 ({173335.0006}), IRS1 ({147545.0002}), and EPHX2 ({132811.0001}) genes. The K121Q polymorphism of ENPP1 ({173335.0006}) is associated with susceptibility to type II diabetes; a haplotype defined by 3 SNPs of this gene, including K121Q, is associated with obesity, glucose intolerance, and type II diabetes. A SNP in the promoter region of the hepatic lipase gene ({151670.0004}) predicts conversion from impaired glucose tolerance to type II diabetes. Variants of transcription factor 7-like-2 (TCF7L2; {602228.0001}), located on 10q, have also been found to confer risk of type II diabetes. A common sequence variant, {dbSNP rs10811661}, on chromosome 9p21 near the CDKN2A ({600160}) and CDKN2B ({600431}) genes has been associated with risk of type II diabetes. Variation in the PPARG gene ({601487}) has been associated with risk of type 2 diabetes. A promoter polymorphism in the IL6 gene ({147620}) is associated with susceptibility to NIDDM. Variation in the KCNJ15 gene ({602106}) has been associated with T2DM in lean Asians. Variation in the SLC30A8 gene ({611145}) has been associated with susceptibility to T2D. Variation in the HMGA1 gene ({600701.0001}) is associated with an increased risk of type II diabetes. Mutation in the MTNR1B gene ({600804}) is associated with susceptibility to type 2 diabetes.\n\n<Subhead> Protection Against Type 2 Diabetes Mellitus\n\nProtein-truncating variants in the SLC30A8 ({611145}) have been associated with a reduced risk for T2D." +125860,"NQO1 ({EC 1.6.5.2}) is a flavoprotein that catalyzes the 2-electron reduction of various quinones and redox dyes, such as phyloquinone and the vitamin K menadione ({6:Jaiswal et al., 1988})." +125900,"A space between the superior central incisors has been stated to be inherited as a dominant trait. {2:Weninger (1933)} studied 24 families, observing 4 generations affected in some. Persons with this trait have been referred to in the past as 'gat-toothed.' ('Gat' is of the same origin as gate and referred, for example, to an opening in the white cliffs of Dover, a vivid analogy to the dental condition.) True diastema, the genetic trait, is caused by persistent tectolabial frenum and is to be distinguished from pseudodiastema, which is a divergent axis of the incisors." +126070,"{2:Fitzpatrick et al. (1974)} and {1:Bergsma and Kaiser-Kupfer (1974)} observed a dominant form of albinism characterized by hypomelanism of the skin and hair and a fine punctate or diffuse pattern of depigmentation of the irides and fundi in contrast to the generalized depigmentation in ordinary albinism. Nystagmus, photophobia, and marked visual defect were not features. {6:Witkop et al. (1978)} referred to this as autosomal dominant oculocutaneous albinoidism. {3:Frenk and Calame (1977)} observed a 3-generation family, and {5:Witkop (1979)} and {4:King (1979)} a 4-generation family." +126100,"Cheek dimples may be inherited as an irregular dominant. {1:Wiedemann (1990)} described a unilateral cheek dimple in a 5-year-old girl whose mother had a similar dimple when she was a child, also in her left cheek, and only when she smiled. The cheek dimple disappeared completely by age 13 in the mother. {1:Wiedemann (1990)} also mentioned bilateral cheek dimples in a 14-year-old boy; his mother had bilateral dimples which disappeared by adulthood. In another family, a brother and sister, their father, 3 paternal uncles, as well as their paternal grandfather and great-grandfather, had dimples of both cheeks. In this family, the dimples were always present at birth and did not become less marked with increasing age." +126180,"{1,2:James (1961, 1978)} reported familial aggregation for reduced two-point discrimination, tested on the forearm. Normally, a person can distinguish two points of a divider when they are between 2 mm and 10 mm apart; affected persons averaged 220 mm as the distance of two-point appreciation ({1:James, 1961}). Later, {2:James (1978)} stated that normal discrimination was about 50 mm; autosomal dominant insensitivity was more than 100 mm and sometimes as high as 290 mm. He observed direct transmission through 3 generations and had observations in collateral branches of the family giving an indirect indication of passage of the trait through 6 generations. Father-to-son transmission occurred." +126190,"{1:Collins et al. (1990)} described a mother and 2 daughters with severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and a distinctive facies with ptosis, high-arched palate, and crowded dentition. The mother had pulmonary valve stenosis diagnosed in infancy. In their teens, the daughters were shown to have pulmonary valve stenosis; in one of them, echocardiogram showed thickening and collapse of the mitral valve as well." +126200,"Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder of the central nervous system (CNS) with various degrees of axonal damage. MS affects mainly young adults with predominance for females. The disorder often leads to substantial disability (summary by {20:Bomprezzi et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Multiple Sclerosis\n\nAdditional MS susceptibility loci include MS2 ({612594}) on chromosome 10p15, MS3 ({612595}) on chromosome 5p13, MS4 ({612596}) on chromosome 1p36, and MS5 ({614810}), conferred by variation in the TNFRSF1A gene ({191190}) on chromosome 12p13." +126250,"{1:Beighton et al. (1980)} described an apparently 'new' form of craniodiaphyseal osteosclerosis in 5 persons in 2 generations of a South African family of mixed European, African Black and Xhoisan (Hottentot and Bushman) stock. Male-to-male transmission was observed. Hyperostosis was mainly in the bones of the forearms and lower legs and was associated with mild cranial sclerosis. The disorder was clinically innocuous. The proband came to attention when he had radiographic studies for an injury." +126300,"{4:Fox (1962)} reviewed the heredity of this anomaly. Dominant pedigrees were presented by {3:Erdmann (1904)} and by {2:Cockayne (1933)}. {1:Blatt (1924)} traced double rows of eyelashes through 3 generations. See tristichiasis ({190800}). (The terms 'districhiasis' and 'tristrichiasis' refer to 2 or 3 hairs per follicle. Much confusion exists, however, and 'distichiasis' and 'districhiasis' are often used interchangeably to mean 'two rows of eyelashes.') In 3 generations of a family, {8:Pico (1957)} found 11 persons with congenital ectropion of whom 8 also had distichiasis. Two persons had distichiasis alone. Histologic study in 2 showed absence of Meibomian glands and replacement of the dense collagenous tissue of the tarsal plates by loose areolar tissue. The observation by {11:Szily (1923)} suggested recessive inheritance. {7:Maumenee (1982)} questioned the existence of mendelian distichiasis except as part of the syndrome of lymphedema with distichiasis ({153400}). Study of a family with both distichiasis and atypical serum cholinesterase indicated that the 2 traits are not closely linked ({10:Shammas et al., 1976}).\n\n{6:Howard and Wilson (1993)} used the term pseudodistichiasis for the double row of eyelashes seen in association with anhidrotic ectodermal dysplasia ({305100}). They pointed out that the double row of eyelashes should not be confused with the misdirection of normal lashes referred to as trichiasis. A similar but distinct eyelash anomaly was reported in association with the Setleis forceps marks syndrome ({227260}) by {5:Frederick and Robb (1992)}. In true distichiasis, a second row of eyelashes merges from the meibomian gland orifices; in pseudodistichiasis, the double row of eyelashes exit anterior to the meibomian orifices." +126320,"In a mother and her 4 children, {1:Goldstein et al. (1985)} described a previously unreported syndrome of distichiasis with congenital heart defects and mixed peripheral vascular anomalies. The 52-year-old mother had ventricular septal defect. Two daughters had surgery for patent ductus arteriosus (see {607411}). Sinus bradycardia alone (elder son), with stress-induced asystole (younger son), and with wandering atrial pacemaker (both daughters) were documented electrocardiographically. Of the 5, 3 had edema, 2 had visible varicosities, 3 had symptoms of chronic venous disease of the legs, and the older daughter, aged 19, had complaints suggesting arterial disease in the legs." +126370,"By in situ hybridization, with a restriction fragment of satellite DNA III, {1:Gosden et al. (1981)} assigned satellite DNA III to the heterochromatic region of chromosome 1 (1qh). Satellite III DNA has also been located by in situ hybridization on chromosomes 3-5, 7, 9, 10, 13-18, 20-22, and Y. In the acrocentric chromosomes, satellite DNA, which is separate from that which codes for ribosomal RNA, is located on the short arm between the centromere and the nucleolus organizing region (NOR). {1:Gosden et al. (1981)} found that in most dicentric Robertsonian translocations, the amount of satellite DNA is less than in the normal homologs, but rarely is it completely absent, indicating that the satellite DNA is indeed between the centromere and the NOR and that the breakpoints are within satellite DNA. Acrocentric chromosomes with large short arms generally had more satellite DNA than those with small short arms." +126390,"Several repeated DNA sequences have been shown by in situ hybridization to have distinct and consistent chromosomal localization. Although usually not transcribed, they may play an important role in chromosomal organization, structure, and gene regulation, as well as in meiotic chromosome pairing and position in the nucleus. {2:Law et al. (1982)} isolated a human repetitive sequence and used it for regional chromosome mapping. By in situ hybridization, {1:Devine et al. (1985)} mapped 4 recombinant DNA clones carrying low-repetitive human DNA. One (their H7) mapped to the satellite regions of chromosomes 13, 14, 15, 21, and 22 and the centromere region of chromosome 1. Their H12 hybridized to chromosomes 11 and 17 and the centromere of X. Their H1 and H15 hybridized widely but particularly to the centromere of 19 and 18p, respectively." +126410,"{4:Willard et al. (1986)} described a general strategy for the detection of high-frequency restriction fragment length polymorphisms in the centromeric regions of human chromosomes by molecular analysis of alpha satellite DNA. Alpha satellite DNA represents a diverse family of randomly repeated DNA located near the centromeres of all chromosomes. Its organization is chromosome specific. {4:Willard et al. (1986)} described multiple high-frequency RFLPs for the centromeric region of chromosome 17 and the X chromosome. The X-linked polymorphisms were particularly informative and constituted a virtually unique marker for each X chromosome studied. {3:Waye and Willard (1986)} found in hybridization experiments that the sequences on chromosome 17 and the X chromosome are more similar to each other than to the sequences on several other chromosomes. Thus, they may be members of an alphoid subfamily that evolved from a common ancestral repeat. The alphoid family of repetitive DNA is found exclusively in primates. Different families of this repeat probably arose before the emergence of several of these species, after which the alphoid families have remained relatively unchanged. Although the separation of the branches leading to great apes and humans took place 6 to 8 million years ago, the most significant human evolution has probably taken place within the last few million years. One might therefore expect to find within the human genome families of the alphoid repeat that have been amplified relatively recently. Chromosome specificity of subfamilies of alphoid DNA implies that transfer of sequences between nonhomologous human chromosomes occurs very rarely. However, the nucleolus-organizing (NOR) chromosomes appear to undergo recombination between nonhomologs more frequently than do other chromosomes. This may account for the fact that {1:Jorgensen et al. (1987)} found related subfamilies of alphoid sequences in 3 NOR-bearing chromosomes--13, 21, and 22. {2:Waye et al. (1988)} found that, under conditions of high stringency, a cloned alpha satellite sequence called p82H hybridizes solely to a low-copy or single-copy alphoid domain located at or near the centromere of chromosome 14." +126420,"DNA topoisomerases I and II ({126430}) catalyze the breaking and rejoining of DNA strands in a way that allows the strands to pass through one another, thus altering the topology of DNA. Type I topoisomerases ({EC 5.99.1.2}) break a single DNA strand, whereas the type II enzymes break 2 strands of duplex DNA. Several lines of evidence suggest that topoisomerase I normally functions during transcription (summary by {5:D'Arpa et al., 1988})." +126452,"DRD4 is a G protein-coupled receptor that belongs to the dopamine D2-like receptor family. Functionally, the D2-like receptors are characterized by their ability to inhibit adenylyl cyclase ({39:Oldenhof et al., 1998})." +126550,"Calvarial doughnut lesions with bone fragility (CDL) is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. Some more severely affected individuals exhibit neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia (CDLSMD) ({6:Pekkinen et al., 2019})." +126600,"Doyne honeycomb retinal dystrophy (DHRD) is characterized by drusen deposits at the level of the Bruck membrane in the macula and around the edge of the optic nerve head. The drusen are large, soft, external to the basement membrane of the retinal pigment epithelium (RPE), and occupy the entire thickness of the Bruch membrane. In contrast, in malattia leventinese (MLVT) small discrete drusen radiate into the peripheral retina, with the later development of confluent soft drusen in the macula. Radial drusen extending into the periphery had not been described in DHRD (summary by {7:Gregory et al., 1996}).\n\n{9:Hulleman et al. (2011)} noted that both DHRD and MLVT present with clinical and pathologic symptoms similar to age-related macular degeneration (ARMD), including soft drusen accumulation, loss of basolateral ruffling of the RPE, RPE vacuolization, and atrophy, with eventual neovascularization in an accelerated time frame, usually in the fourth decade of life." +126700,"Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. They appear as slightly raised, yellow subretinal nodules randomly scattered in the macula. 'Drusen' is the plural for 'Druse,' German for 'nodule' or 'crystal' (summary by {1:Bok, 2002}, {2:Boon et al., 2008})." +126800,"Duane retraction syndrome is a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision ({2:Appukuttan et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Duane Retraction Syndrome\n\nDuane retraction syndrome-1 (DURS1) maps to chromosome 8q13. DURS2 ({604356}) is caused by mutation in the CHN1 gene ({118423}) on chromosome 2q31. DURS3 ({617041}) is caused by mutation in the MAFB gene ({608968}) on chromosome 20q12." +126840,"{1:Taylor et al. (1981)} studied 2 families, each ascertained through a young man with aggressive duodenal ulcer associated with basal and postprandial hypergastrinemia, hyperpepsinogenemia I, and basal and pentagastrin-stimulated hyperchlorhydria. All characteristics returned to normal after antrectomy and vagotomy. Antral gastrin concentrations and G-cell counts were normal, indicating hyperfunction rather than hyperplasia of G-cells. Of 10 first-degree relatives, 4 shared with the probands the combination of postprandial hypergastrinemia and hyperpepsinogenemia I. This form of ulcer disease appears to be distinct from that associated with hyperpepsinogenemia I and a normal serum gastrin response to food ({126850})." +126850,"Human gastric mucosa contains 2 immunochemically distinct types of pepsinogens, I and II. Only pepsinogen I (PG I) is derived exclusively from the chief cells in the oxyntic glands of the gastric body and fundus. The level of PG I in the serum, as determined by radioimmunoassay, correlates with gastric secretory capacity, serves as a marker for the ulcer diathesis, and demonstrates heterogeneity, i.e., a bimodal distribution, in large groups of duodenal ulcer patients. {2:Rotter et al. (1979)} found autosomal dominant transmission of elevated serum PG I level in 2 large families with a prominent history of duodenal ulcer. An elevated PG I level identified genetically susceptible but clinically normal persons. About half of sibships with 2 or more cases of duodenal ulcer were found to segregate for high serum PG I. {4:Rotter et al. (1982)} did a variance component analysis of the distribution of serum pepsinogen I levels in normal individuals, using a maximum-likelihood method on entire pedigrees. The results indicated a broad heritability of 91%, with some 74% being attributed to a dominance component. The authors felt that pepsinogen I level in normals is principally determined by the action of major genes, as also seems to be the case for duodenal ulcer patients and their families. At least 2 other dominantly inherited syndromes have peptic ulcer as a feature, MEA I with Zollinger-Ellison syndrome ({131100}) and tremor, nystagmus, and duodenal ulcer ({190310}).\n\nHelicobacter pylori has more recently become recognized as the predominant cause of peptic ulcer disease. The Lewis blood group antigen, Le(b) (see {111100}), is the epithelial receptor for Helicobacter pylori ({1:Boren et al., 1993}). See {600263} for evidence for genetic susceptibility to Helicobacter pylori infection." +126900,"Dupuytren contracture is the most common heritable disorder of connective tissue. It is a disease of the soft tissues of the palm and fingers characterized by a progressive thickening and shortening of the fascial structures that normally provide support to the glabrous skin of the palm. Although it can also be a sporadic disorder, the inherited form is most frequently observed among people of Nordic descent. There is a male: female ratio of greater than 3:1 ({6:Hu et al., 2005}).\n\nDupuytren contracture has been associated with multiple fibroproliferative conditions, including Peyronie disease ({171000}), knuckle pads ({149100}), congenital generalized fibromatosis ({228550}), juvenile fibromatosis ({228600}), and frozen shoulder, suggesting a common underlying defect in wound repair ({6:Hu et al., 2005})." +126950,"In 2 sisters {1:Fuhrmann et al. (1972)} described a form of dwarfism with disproportionately tall vertebral bodies (i.e., reduced anteroposterior dimension). Other features were very slender, caudally directed lower ribs, coxa vara, and a cordate pelvis. Since the parents were not related and the mother showed minor changes (short stature and somewhat tall vertebrae), dominant inheritance with variable expressivity was suggested." +127000,"Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence ({10:Kenny and Linarelli, 1966}; {3:Caffey, 1967}; summary by {9:Isojima et al., 2014}).\n\nSee KCS1 ({244460}) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome." +127100,"{2:Levi (1910)} described 2 families with 'microsomie essentielle' displaying dominant inheritance. Body proportions were normal. {2:Levi (1910)} pictured (see {1:Black, 1961}) affected father and son. {6:Von Verschuer and Conradi (1938)} suggested recessive inheritance. {1:Black (1961)} referred to the disorder as 'snub-nosed' dwarfism, a variety of low-birth-weight dwarfism, and suggested that both dominant and recessive forms exist. The low birth weight is, perhaps, not well documented and this condition may in fact be sexual ateliosis ({262400}). The phenotypes of the presumed dominant and recessive forms seem identical and possibly Levi's pedigree was an instance of quasidominance. On the other hand, cases of primordial dwarfism in successive generations are cited by {7:Warkany et al. (1961)}, notably the family studied by {5:Selle (1920)} in which 10 persons in 3 generations were affected.\n\n{4:McKusick (1975)} saw an isolated case of what appeared to be 'snub-nosed' dwarfism. The parents pointed out that 'snub-nosed' may not be an acceptable designation for laymen. {3:McKusick (2002)} noted that no recent descriptions of this entity had been forthcoming." +127300,"Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by {34:Ross et al., 2005}). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones ({27:Langer, 1965}).\n\nSee also Langer mesomelic dysplasia (LMD; {249700}), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes." +127350,{1:Funderburk et al. (1976)} described a kindred in which males and females in 4 generations appeared to have this combination. No male-to-male transmission was noted. +127400,"Dyschromatosis symmetrica hereditaria (DSH), also called symmetric dyschromatosis of the extremities and symmetric or reticulate acropigmentation of Dohi ({4:Komaya, 1924}), is characterized by hyperpigmented and hypopigmented macules on the face and dorsal aspects of the extremities that appear in infancy or early childhood. DSH generally shows an autosomal dominant pattern of inheritance with high penetrance. The condition has been reported predominantly in Japanese and Chinese individuals.\n\n<Subhead> Review of Reticulate Pigment Disorders\n\n{7:Muller et al. (2012)} reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease (see DDD1; {179850}), reticulate acropigmentation of Kitamura (RAK; {615537}), reticulate acropigmentation of Dohi (RAD), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. {7:Muller et al. (2012)} also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). {7:Muller et al. (2012)} concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity.\n\n<Subhead> Genetic Heterogeneity of Reticulate Pigment Disorders\n\nFor a discussion of genetic heterogeneity of reticulate pigment disorders, see {179850}." +127500,"Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by {10:Zhang et al., 2013}).\n\nThe autosomal dominant SASH1-associated DUH1 phenotype is characterized by generalized lentigines accompanied by mottled hyper- and hypopigmentation ({12:Zhang et al., 2017}).\n\nDUH is distinct from dyschromatosis symmetrica hereditaria (DSH; {127400}), which also occurs particularly in Japanese and Korean individuals, but shows a characteristic mixture of hyper- and hypopigmented macules limited largely to the dorsal aspects of the hands and feet ({7:Suenaga, 1952}). {1:Gao et al. (2005)} noted that lesions associated with DUH appear within the first year of life predominantly on the trunk, whereas the age of onset of DSH is approximately 6 years and lesions appear predominantly on the extremities.\n\n<Subhead> Genetic Heterogeneity of Dyschromatosis Universalis Hereditaria\n\nDyschromatosis universalis hereditaria-2 (DUH2; {612715}) maps to chromosome 12q21-q23. DUH3 ({615402}) is caused by mutation in the ABCB6 gene ({605452}) on chromosome 2q35." +127550,"Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, among others (review by {3:Bessler et al., 2007} and {4:Bessler et al., 2010}).\n\nHoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by {16:Walne et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome\n\nDyskeratosis congenita is a genetically heterogeneous disorder, showing autosomal recessive, autosomal dominant, and X-linked inheritance. Additional autosomal dominant forms include DKCA2 ({613989}), caused by mutation in the TERT gene ({187270}) on chromosome 5p15; DKCA3 ({613990}), caused by mutation in the TINF2 gene ({604319}) on chromosome 14q12; DKCA4 (see {615190}), caused by mutation in the RTEL1 gene ({608833}) on chromosome 20q13, DKCA5 ({268130}), caused by mutation in the TINF2 gene ({604319}) on chromosome 14q12, and DKCA6 ({616553}), caused by mutation in the ACD gene ({609377}) on chromosome 16q22.\n\nAutosomal recessive forms include DKCB1 ({224230}), caused by mutation in the NOLA3 gene ({606471}) on chromosome 15q14; DKCB2 ({613987}), caused mutation in the NOLA2 gene ({606470}) on chromosome 5q35; DKCB3 ({613988}), caused by mutation in the TCAB1 gene (WRAP53; {612661}) on chromosome 17p13; DKCB4 (see {613989}), caused by mutation in the TERT gene; DKCB5 ({615190}), caused by mutation in the RTEL1 gene ({608833}) on chromosome 20q13; DKCB6 ({616353}), caused by mutation in the PARN gene ({604212}) on chromosome 16p13; and DKCB7 (see {616553}), caused by mutation in the ACD gene ({609377}) on chromosome 16q22. X-linked recessive DKCX ({305000}) is caused by mutation in the dyskerin gene (DKC1; {300126}) on Xq28.\n\nHoyeraal-Hreidarsson syndrome, the severe clinical variant of DKC, can be caused by mutation in several different DKC-associated genes; see, e.g., DKC1 ({300136}), TINF2 ({604319}), TERT ({187270}), and RTEL1 ({608833}).\n\nSee also adult-onset telomere-related pulmonary fibrosis and/or bone marrow failure-1 and -2 (PFBMFT1, {614742} and PFBMFT2, {614743}), which are caused by mutations in the TERT and TERC genes, respectively. These disorders share some features of DKC, but show later onset and do not have skin abnormalities. The disorders related to telomere shortening are part of a phenotypic spectrum.\n\nMutation in the CTC1 gene ({613129}) on chromosome 17p13 causes cerebroretinal microangiopathy with calcifications and cysts (CRMCC; {612199}), another telomere-related disorder with overlapping features of DKC." +127600,"Hereditary benign intraepithelial dyskeratosis (HBID) is a rare inherited disease characterized by elevated plaques on the ocular and oral mucous membranes. The bulbar conjunctiva is involved, especially in the nasal and temporal perilimbal region. Dilated superficial vessels in association with the conjunctival plaques give the eye an overall red appearance, which accounts for the disease's nickname of 'red eye.' Morphologically, the lesions consist of a dyskeratotic hyperplastic epithelium. The oral lesions, which are typically asymptomatic and may go unrecognized, usually appear as thick, soft, white papules and plaques of various sizes, involving any part of the oral cavity. The ocular manifestations in this condition vary in severity from asymptomatic plaques on the bulbar conjunctiva to complete involvement of the cornea with severe vision loss. Patients commonly complain of symptoms of irritation, such as erythema, itching, excessive lacrimation, and photophobia. Periods of acute intensification of symptoms are common, especially in the spring. The lesions may become apparent in early infancy and may date from birth. The plaques persist throughout life and sometimes progress, but may wax and wane (summary by {13:Witkop et al., 1960}; {6:Reed et al., 1979}; and {2:Baroni et al., 2009})." +127700,"Dyslexia is a disorder manifested by difficulty learning to read despite conventional instruction, adequate intelligence, and sociocultural opportunity. It is among the most common neurodevelopmental disorders, with a prevalence of 5 to 12%. Although there is evidence for familial clustering and heritability, the disorder is considered a complex multifactorial trait ({33:Schumacher et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Dyslexia\n\nAdditional dyslexia susceptibility loci include DYX2 ({600202}) on chromosome 6p22, DYX3 ({604254}) on chromosome 2p16-p15, DYX5 ({606896}) on chromosome 3p12-q13, DYX6 ({606616}) on chromosome 18p11.2, DYX8 ({608995}) on chromosome 1p36-p34, and DYX9 ({300509}) on chromosome Xq27.3.\n\nSee MAPPING for other possible dyslexia susceptibility loci, including DYX4 and DYX7." +127750,"Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; {168600}). Alzheimer disease (AD; {104300})-associated pathology and spongiform changes may also be seen ({19:McKeith et al., 1996}; {20:Mizutani, 2000}; {18:McKeith et al., 2005})." +127800,"This condition is characterized by asymmetrical cartilaginous overgrowth of one or more epiphyses of a tarsal or carpal bone, and less often other bones. Males are affected about 3 times more often than females. The disorder appears to have no simple mendelian basis. No familial case has been reported. {1:Donalson et al. (1953)} described a patient whose monozygotic twin was not affected. {6:Wiedemann et al. (1981)} described a case with involvement of both legs and, to a lesser extent, of the arms, and suggested that this is a systemic disorder. It is likely that the familial disorder described in {127820} is a separate entity." +127820,"{1:Hensinger et al. (1974)} described a kindred in which 7 members in 2 generations in a pattern consistent with autosomal dominant inheritance had dysplasia epiphysealis hemimelica, intracapsular or periarticular chondromas of the knee, extraskeletal chondromas, and osteochondromas in various combinations. None of these individually has a known mendelian basis. Under the designation of dominant carpotarsal osteochondromatosis, {2:Maroteaux et al. (1993)} described a mother and son with what appeared to be the same condition as that in the family reported by {1:Hensinger et al. (1974)}. The son was first seen at the age of 16 years for swelling and restricted mobility of the left ankle. About one year later he presented with swelling on the palmar surface of the right wrist and complained of limited flexion of the right knee with one episode of locking. The mother had first noted deformity of her right wrist in adolescence. At the age of 52 years, a swelling could be palpated on the palmar side of the left wrist. These had been demonstrated by x-rays taken at the age of 33 years. {2:Maroteaux et al. (1993)} suggested that this, in fact, is a condition distinct from dysplasia epiphysealis hemimelica, which is usually sporadic. Genetic counseling is clearly quite different." +128000,"Kirner deformity, or dystelephalangy, is a rare malformation of the fifth finger that consists of radial bowing of the terminal phalanx, with the tip of the finger pointing toward the thenar eminence. The deformity is usually bilateral (summary by {8:Temtamy and McKusick, 1978})." +128100,"'Dystonia' describes a neurologic condition characterized by involuntary, sustained muscle contractions affecting one or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. Dystonia has been classified as primary (dystonia as the sole or major symptom) or secondary (a symptom of another disorder), and by age of onset, muscle groups affected, and mode of inheritance ({42:Muller and Kupke, 1990}; {44:Nemeth, 2002})." +128101,"Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait (summary by {3:Hersheson et al., 2013})." +128200,"Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant neurologic condition characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age and show favorable response to anticonvulsant medications such as carbamazepine or phenytoin. It is the most common type of paroxysmal movement disorder. The condition is often misdiagnosed as an epileptic manifestation (summary by {2:Chen et al., 2011}).\n\nPKC shares some clinical features with benign familial infantile convulsions (BFIC2; {605751}) and infantile convulsions and paroxysmal choreoathetosis (ICCA; {602066}), which are allelic disorders.\n\nSee also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp ({608105}), which maps to chromosome 16p12-p11.2.\n\n<Subhead> Genetic Heterogeneity of Episodic Kinesigenic Dyskinesia\n\nSee also EKD2 ({611031}), which maps to chromosome 16q13-q22.1." +128230,"Autosomal dominant dopa-responsive dystonia (DRD) is characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa. The clinical spectrum can range from subtle neurologic signs and symptoms (e.g., abnormal writing tests) to orthopedic signs (e.g., pes equinovarus), parkinsonism, and even psychiatric manifestations (summary by {29:Steinberger et al., 2007})." +128235,"Dystonia-12 (DYT12), also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction (summary by {12:Rosewich et al., 2014})." +128290,"{1:Ramirez and Cantu (1982)} observed 2 families in which multiple members had a tag, nodule or localized elevation at the base of the antitragus. One of the families contained an instance of male-to-male transmission." +128300,"The trait is age- and sex-dependent, being rare in young children and more frequent in males. Instances of involvement in multiple generations were reviewed by {1:Hrdlicka (1935)}." +128400,"'Near-head,' intermediate, and 'flare' types can be recognized. The data of {1:Kloepfer (1946)} suggested complex genetics." +128500,"Various unusual varieties of folding of the helix and other parts of the ear are described in families, usually as an autosomal dominant 'with variable expressivity and reduced penetrance.' See {2:Schrudde and Petrovici (1979)} for unusual dysmorphic pinnae in 12 persons in 5 generations." +128600,{3:Potter (1937)} described a bilateral congenital malformation of the pinna which is curled up like a cap or cup concealing the external auditory meatus when the subject is in lateral profile. {1:Erich and Abu-Jamra (1965)} observed transmission of the condition through 4 generations (in 17 cases in 8 sibships) and reviewed similar reports. {2:Peterson and Schimke (1968)} observed cup-shaped ears in members of 5 generations with at least 4 instances of male-to-male transmission. Their proband had Pierre Robin syndrome ({261800}). The embryology of the auricle and a large amount of clinical material on various anomalies of the auricle were presented by {4:Rogers (1968)}. +128950,"{3:Frank (1973)} and {5:Lichstein et al. (1974)} suggested that a diagonal crease of the earlobe is an indication of increased risk of coronary heart disease. Whether the trait is mendelian is not clear. The frequency of the trait seems to increase with the age of the cohort. {2:Elliot (1983)} confirmed an association between earlobe crease and coronary artery disease independent of patient age. On the other hand, {4:Gral and Thornburg (1983)} could find no statistically significant correlation. See {130650} and {186350} for syndromes in which an earlobe crease is observed." +128980,"Two kindreds have been described ({1:Escher and Hirt, 1968}; {3:Wilmot, 1970}). The abnormality of the external ear is a minor one and was missing in some persons judged to be affected because of deafness. The moderately severe conductive deafness differs from otosclerosis in being congenital and apparently nonprogressive. Exploration of the middle ear showed curvature of the long crus of the incus and absence of the head of the stapes with a fibrous band connecting the two bones. {2:Schweitzer et al. (1984)} described the combination of conductive hearing loss due to middle ear ossicular anomalies, thickened bilateral 'lop' or 'cup' auricles ({128600}), and micrognathia." +129150,"{1:Gerald and Bruns (1978)} reported that E11S mapped separately from polio sensitivity ({173850}) on chromosome 19 and is therefore determined by a separate gene. Coxsackievirus B3 susceptibility ({120050}) is also determined by a gene on chromosome 19. By analysis of human-mouse hybrid cells, {2:Kaneda et al. (1987)} assigned E11S to 19q13.1-qter." +129200,"Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by {10:Limova et al., 1993})." +129400,"Rapp-Hodgkin syndrome (RHS) is characterized by anhidrotic ectodermal dysplasia and cleft lip/palate. Patients have characteristic facies (narrow nose and small mouth), wiry, slow growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, and dystrophic nails (summary by {7:Kantaputra et al., 2003})." +129490,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {2:Cluzeau et al., 2011})." +129500,"The main features of Clouston syndrome are dystrophy of the nails that tend to be hypoplastic and deformed with increased susceptibility to paronychial infections, defects of the hair that range from brittleness and slow growth rate to total alopecia, and moderate to severe palmoplantar hyperkeratosis with reduced keratinocyte desquamation (summary by {13:Kibar et al., 1996})." +129540,"{1:Wilson et al. (1989)} described the single case of a 2-year-old girl with virtual absence of body and scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and an unusual facial appearance consisting of dystopia canthorum, thickened frenulum giving an appearance of slight median cleft of the upper lip (pseudocleft), and a long, flat philtrum. The patient had 2 unaffected sibs, there was no parental consanguinity, and the karyotype was normal. Some of the features resembled those of OFD I ({311200}) and OFD II ({252100}), but the patient lacked cleft, tongue abnormalities, and radiographic irregularities sometimes seen in OFD. Further, OFD patients do not have the severe degree of alopecia that was present in this patient." +129550,"{1:Tuffli and Laxova (1983)} observed a 15-year-old boy with aplasia cutis verticis, hypohidrosis, nipple hypoplasia, onychodysplasia and delayed dental eruption with minor tooth anomalies who developed a large left adrenal cyst. The mother had similar changes of ectodermal dysplasia (including breast hypoplasia and lack of lactation) and had had a left 'renal abscess.' The combination of ectodermal manifestations was previously unknown as an autosomal dominant trait. The authors speculated that the ectodermal dysplasia and adrenal cyst might represent different manifestations of a fetal avascular dysplasia." +129600,"Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment ({11:Greene et al., 2010}).\n\nCiting the revised Ghent criteria for Marfan syndrome, {16:Loeys et al. (2010)} proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS).\n\n<Subhead> Genetic Heterogeneity of Isolated Ectopia Lentis\n\nAn autosomal recessive form of isolated ectopia lentis (ECTOL2; {225100}) is caused by mutation in the ADAMTSL4 gene ({610113})." +129750,Ectopia pupillae is a congenital eye malformation in which the pupils are displaced from their normal central position. +129830,"This syndrome combines ectrodactyly with cleft palate, without cleft lip or the ectodermal features that occur with the EEC syndrome ({129900}). A large kindred was reported in brief by {1:Opitz et al. (1980)}." +129840,"{1:Dunnigan and Pelosi (1993)} reported an experience with 18 children from 13 unrelated kindreds with idiopathic edema commencing between the neonatal period and age 12 years. A triad of swelling, affective disturbance and functional autonomic symptoms was observed. Sixteen of the children (89%), including all 15 girls, had a family history of idiopathic edema, and 12 children (67%) had a family history of diabetes mellitus. Adherence to a restricted carbohydrate diet and the avoidance of refined carbohydrate appeared to be beneficial. {1:Dunnigan and Pelosi (1993)} presented the pedigree of a kindred in which the grandmother, all 4 daughters, and all 5 grandchildren (1 male, 4 females) showed idiopathic edema. Some of the children had severe vomiting, often projectile, beginning at an early age, frequent micturition with poor bladder control; frequent 'accidents' were noted. Irritability, lability of mood, lassitude and fatigue accompanied swelling in some of the children. Intermittent swelling of the face and abdomen was noted as early as the first year of life. Children with later onset often had swelling beginning after a period of weight gain." +129900,"This form of ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, designated EEC1, has been linked to chromosome 7q11.2-q21.3. Another form of the disorder, designated EEC3 ({604292}), is caused by mutation in the TP63 gene ({603273})." +129905,"Mouse egasyn, a 64-kD luminal endoplasmic reticulum (ER) glycoprotein, has dual functions. In tissues such as the liver, kidney, and submandibular gland, binding by egasyn sequesters beta-glucuronidase in the ER. Also, egasyn is identical to esterase-22, one of a family of mouse carboxylesterases with broad specificities. {2:Ovnic et al. (1991)} used the polymerase chain reaction (PCR) for the isolation of murine egasyn cDNAs. At least 9 nonspecific carboxylesterases are encoded by genes located in 2 clusters in the esterase region on mouse chromosome 8 ({3:Peters, 1982}). {1:Medda et al. (1986)} mapped egasyn to cluster 1, which includes esterase-1, esterase-6, and esterase-9. {2:Ovnic et al. (1991)} confirmed the mapping of the Es22 gene to cluster 1 on mouse chromosome 8." +130000,"The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars ({7:Beighton, 1993}).\n\n<Subhead> Genetic Heterogeneity of Classic Ehlers-Danlos Syndrome\n\nSee EDSCL2 ({130010}), caused by mutation in the COL5A2 gene ({120190}) on chromosome 2q32.\n\n<Subhead> Classification of Ehlers-Danlos Syndrome\n\nThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by {31:Malfait et al. (2017)}, which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular ({225320}), vascular ({130050}), hypermobile ({130020}), arthrochalasia ({130060}, {617821}), dermatosparaxis ({225410}), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic ({616471}), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by {3:Beighton et al. (1998)}, which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.\n\nIn an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by {44:Steinmann et al., 2002}). Both were considered to be forms of classic EDS." +130010,"The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars ({1:Beighton, 1993}). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see {130000}." +130020,The Ehlers-Danlos syndrome shows phenotypic and genetic heterogeneity; see {130000}. Marked joint hyperextensibility without skeletal deformity dominates the clinical picture of hypermobility-type EDS. Skin manifestations are relatively inconspicuous. Differentiation from familial joint laxity ({147900}) is often uncertain. +130050,"The vascular type of Ehlers-Danlos syndrome is characterized by the major complications of arterial and bowel rupture, uterine rupture during pregnancy, and the clinical features of easy bruising, thin skin with visible veins, and characteristic facial features (summary by {23:Leistritz et al., 2011}). Joint hypermobility is largely limited to the digits, and skin hyperextensibility is minimal or absent ({27:McKusick, 1972})." +130060,"Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement ({2:Byers et al., 1997}; {6:Giunta et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Arthrochalasia-type Ehlers-Danlos Syndrome\n\nSee EDSARTH2 ({617821}), caused by mutation in the COL1A2 gene ({120160})." +130070,"Ehlers-Danlos syndrome spondylodysplastic type 1 is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature ({5:Guo et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Ehlers-Danlos Syndrome, Spondylodysplastic Type\n\nSee EDSSPD2 ({615349}), caused by mutation in the B3GALT6 gene ({615291}), and EDSSPD3 ({612350}), caused by mutation in the SLC39A13 gene ({608735})." +130080,"Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of connective tissue disorders defined by joint laxity and skin alterations that include hyperextensibility, atrophic scarring, and bruising. Periodontal EDS (EDSPD; previously designated 'EDS VIII') is a specific subtype of EDS with autosomal dominant inheritance, in which the defining feature is an EDS phenotype combined with severe periodontal inflammation. In childhood, periodontal inflammation in EDSPD is characterized by extensive gingivitis in response to mild plaque accumulation. In the teens, early-onset periodontitis leads to inflammatory destruction of dental attachment and premature loss of teeth. Other clinical features include pretibial hyperpigmentation, acrogeria, skin and gum fragility, scarring, generalized and/or distal joint hypermobility, and bruising out of proportion to trauma. There are also reports of life-threatening complications such as arterial or gastrointestinal ruptures (summary by {9:Kapferer-Seebacher et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Ehlers-Danlos Syndrome, Periodontal Type\n\nEhlers-Danlos syndrome periodontal type 2 (EDSPD2; {617174}) is caused by mutation in the C1S gene ({120580}) on chromosome 12p13.\n\n<Subhead> Reviews\n\n{9:Kapferer-Seebacher et al. (2016)} tabulated the clinical features of 93 EDSPD patients with mutations in the C1R or C1S genes (77 and 16 patients, respectively) and observed that the most prevalent features included early-onset periodontitis, gingival recessions, and thin gingiva and/or absence of attached gingiva. Easy bruising was present in most patients, as were pretibial hyperpigmentation, skin fragility, and mildly elastic skin. About half of patients exhibited atrophic scars or wide scarring and/or prominent vasculature. Joint hypermobility was not a consistent finding, and if present was mild and often limited to small joints. Other variable features included recurrent infections, joint pain, flat feet, marfanoid facial features, scoliosis, osteoarthritis, and hernias. A minority of patients had joint dislocations; aneurysms occurred in 4 families, and autoimmune disorders occurred in 1 family. Cancer appeared to be more prevalent in patients with C1S mutations." +130090,"The large number of distinct types of the Ehlers-Danlos syndrome that have already been identified indicates great heterogeneity, but clearly that heterogeneity is not exhausted by the present classification. Some of the unclassified families are apparently recessive (see {225320}); some, such as that reported by {1:Friedman and Harrod (1982)}, are seemingly dominant. These authors reported a mother and son with large hernias, positional foot deformities, thoracic deformity, asthma, and eczematoid dermatitis. Both had facial asymmetry, prominent nasal bridge and small jaw. The mother had severe thoracolumbar kyphoscoliosis and 'cigarette paper' scars over the legs. She died of dissecting aortic aneurysm and at autopsy had cystic medial necrosis of the aorta and myxomatous degeneration and elongation of the mitral and tricuspid valves. {2:McKusick (1972)} observed dissecting aortic aneurysm in type VI EDS ({225400}). Loose-jointedness, stretchable skin, Gorlin sign (tip of tongue to tip of nose) and a few papyraceous scars occurred in a man who died of dissecting aneurysm, as did his sister and mother who showed similar systemic signs." +130100,"This condition occurs in the Marfan syndrome, the Ehlers-Danlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, and Down syndrome. In addition, it probably occurs as an isolated genetic trait of which the inheritance may be dominant. {3:Langeveld-Wildschut et al. (1993)} described the disorder in 2 sisters and a brother. The father and 3 paternal uncles were probably affected also. {3:Langeveld-Wildschut et al. (1993)} found reports of 5 families with a total of 15 affected persons. Of these, the cases were in 1 generation in 3 families (e.g., {2:Klein and Newcomer, 1975}) and in more than 1 generation in 2 (e.g., {4:Obermayer and Shea, 1968})." +130180,"This EEG variant is characterized by almost complete absence of alpha waves except, in some cases, for a few seconds after the eyes are closed and after hyperventilation (summary by {7:Vogel and Motulsky, 1986})." +130190,"Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002})." +130200,"This peculiarity has been observed in identical twins ({2:Vogel, 1965}) and in parents and sibs of probands ({1:Radin, 1964})." +130300,"{1:Vogel (1966)} suggested autosomal dominant inheritance of each of two types: (1) frontal beta-groups with high frequency (25-30 per sec) and relatively low voltage, and (2) beta-groups with frequency of 20-25 per sec, higher voltage, and precentral maximum." +130400,The alpha waves are replaced by 16-19 per second beta waves that show an occipital maximum and are blocked by opening of the eyes. From family data {1:Vogel (1966)} concluded the pattern is inherited as an autosomal dominant. The frequency was found to be about 0.6% among young males. +130650,"Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by {8:Beckwith (1969)} and {162:Wiedemann (1969)} (summary by {156:Weksberg et al., 2010}).\n\n{104:Mussa et al. (2016)} provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder." +130710,"CLE is a well-described cause of respiratory distress in infancy and is characterized by hyperinflation of the affected lobe with compression of surrounding normal lung tissue. Although it can have various 'causes' including extrabronchial vascular compression, hypoplasia of the bronchial cartilages was thought to be the basis in reported familial cases ({3:Wall et al., 1982}). Affected sibs were described by {2:Sloan (1953)} and {1:Hendren and McKee (1966)}. {3:Wall et al. (1982)} reported affected mother and daughter." +130720,"Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by {5:Gripp et al., 2015})." +130900,"Hypocalcified amelogenesis imperfecta is characterized by enamel of normal thickness on newly erupted and unerupted and unresolved teeth. The enamel is soft and may be lost soon after eruption leaving the crown composed only of dentin. The enamel has a cheesy consistency and can be scraped from the dentin. An anterior open bite has been recorded in over 60% of the cases observed. The hypocalcification type is the most frequent type of enamel dysplasia, occurring in about 1 in 20,000 individuals ({11:Witkop and Sauk, 1976}). Large masses of supragingival calculus become deposited on the teeth, and this is frequently associated with severe gingivitis or periodontitis ({10:Winter and Brook, 1975})." +131100,"Multiple endocrine neoplasia type I (MEN1) is an autosomal dominant disorder characterized by varying combinations of tumors of parathyroids, pancreatic islets, duodenal endocrine cells, and the anterior pituitary, with 94% penetrance by age 50. Less commonly associated tumors include foregut carcinoids, lipomas, angiofibromas, thyroid adenomas, adrenocortical adenomas, angiomyolipomas, and spinal cord ependymomas. Except for gastrinomas, most of the tumors are nonmetastasizing, but many can create striking clinical effects because of the secretion of endocrine substances such as gastrin, insulin, parathyroid hormone, prolactin, growth hormone, glucagon, or adrenocorticotropic hormone (summary by {21:Chandrasekharappa et al., 1997}).\n\nFamilial isolated hyperparathyroidism (see {145000}) occasionally results from the incomplete expression of MEN1 (summary by {95:Simonds et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Multiple Endocrine Neoplasia\n\nOther forms of multiple endocrine neoplasia include MEN2A ({171400}) and MEN2B ({162300}), both of which are caused by mutation in the RET gene ({164761}), and MEN4 ({610755}), which is caused by mutation in the CDKN1B gene ({600778})." +131300,"Camurati-Engelmann disease is a rare autosomal dominant type of bone bone dysplasia. The hallmark of the disorder is the cortical thickening of the diaphyses of the long bones. Hyperostosis is bilateral and symmetrical and usually starts at the diaphyses of the femora and tibiae, expanding to the fibulae, humeri, ulnae, and radii. As the disease progresses, the metaphyses may be affected as well, but the epiphyses are spared. Sclerotic changes at the skull base may be present. The onset of the disease is usually during childhood and almost always before the age of 30. Most patients present with limb pain, muscular weakness, a waddling gait, and easy fatigability. Systemic manifestations such as anemia, leukopenia, and hepatosplenomegaly occur occasionally (summary by {16:Janssens et al., 2006})." +131375,{1:Edwards and Grootegoed (1983)} described a sperm-specific enolase. +131400,"Familial eosinophilia is a rare autosomal dominant disorder characterized by peripheral hypereosinophilia (greater than 500 eosinophils/micro liter of blood) with or without other oragn involvement (summary by {5:Rioux et al., 1998})." +131430,"{1:Goetzl (1978)} observed families with very low eosinophil counts. {2:Goetzl (1989)} then observed a total of 4 families, in each of which only 1 individual was affected. Two of these patients were reported by {3:Nakahata et al. (1984)}, who showed that acquired IgG antibodies to eosinophils were responsible. There is no support for a specific mendelian basis." +131450,"Epicanthus ({131500}) and epiblepharon of the upper eyelid and of the lower eyelid are frequent normal variations in the Chinese. {1:Hu (1983)} found the frequency among Chinese students to be, respectively, 38.1, 37.8, and 10.0%. In 254 pairs of twins, he found a monozygotic concordance rates of close to 100%. In dizygotic twins, the concordance rates were close to those expected of an autosomal dominant trait. Thus, all 3 traits are probably autosomal dominant." +131460,See epicanthus ({131500}) and epiblepharon of lower lid ({131450}). +131500,"Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. {2:Usher (1935)} noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis ({110100})." +131600,Epidermoid cysts are keratinous cysts which may be impossible to distinguish clinically from sebaceous cysts ({184500}). Epidermoid cysts occur with Gardner syndrome ({175100}). +131705,"Transient bullous dermolysis of the newborn is a rare form of dystrophic epidermolysis bullosa (DEB) that presents with neonatal skin blistering but usually improves markedly during early life and even remits completely. Skin biopsies reveal abnormal intraepidermal accumulation of type VII collagen, which results in poorly constructed anchoring fibrils and a sublamina densa plane of blister formation (summary by {2:Fassihi et al., 2005})." +131750,"Epidermolysis bullosa dystrophica is a clinically heterogeneous disorder characterized by blistering and scarring of the skin and mucous membranes in response to mechanical force. Microscopic examination of the skin shows cleavage below the basement membrane within the papillary dermis. All forms are caused by mutation in the COL7A1 gene. {11:Fine et al. (2000)} proposed that the Cockayne-Touraine and Pasini subtypes of dystrophic epidermolysis bullosa be combined into 1 category known as 'dominant dystrophic epidermolysis bullosa' (DDEB), since both are caused by mutations in the COL7A1 gene and show overlapping clinical features.\n\nEpidermolysis bullosa simplex (see, e.g., {131800}) and epidermolysis bullosa junctional (see, e.g., {226700}) are clinically and genetically distinct disorders characterized by tissue separation at the levels of the basal keratinocyte layer and lamina lucida, respectively." +131760,"Generalized severe epidermolysis bullosa simplex-1A (EBS1A) is an autosomal dominant skin disorder characterized by generalized intraepidermal skin blistering from minimal mechanical trauma beginning at birth. A herpetiform (arcuate) pattern of blisters, a crusting-necrotic aspect of the lesions that is often associated with inflammatory plaques, and clumping of keratin intermediate filaments seen on electron microscopy define the severe subtype of EBS. Skin fragility is very prominent at birth, and large tense blisters can occur after minimal trauma or spontaneously; the disorder may be life-threatening in the first year of life. Congenital ulcerated areas on hands and feet as well as nail involvement are common. Blistering is exacerbated by heat, humidity, and sweating. Tendency to blistering diminishes in adolescence (summary by {8:Has et al., 2020}).\n\nEpidermolysis bullosa simplex (EBS) comprises a group of clinically and genetically heterogeneous skin disorders characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The severe subtype of EBS was previously known as the Dowling-Meara type. The other 2 main subtypes of EBS are the generalized intermediate, previously known as Koebner, type (see {131900}) and the localized, previously known as Weber-Cockayne, type (see {131800}) ({7:Fine et al., 2008}). All 3 of these main subtypes can be caused by mutation in either the KRT5 or the KRT14 gene. Rare EBS subtypes are clinically and genetically heterogeneous and include several syndromic types.\n\nOther types of epidermis bullosa (EB), classified by the level of skin cleavage and other ultrastructural laboratory findings in addition to clinical features, are junctional EB (JEB; see {226700}) and dystrophic EB (DEB; see {131750}).\n\n<Subhead> Genetic Heterogeneity of Epidermolysis Bullosa Simplex\n\nOther forms of EBS that are caused by mutation in the KRT14 gene are generalized intermediate EBS1B ({131900}), previously known as the Koebner type; localized EBS1C ({131800}), previously known as the Weber-Cockayne type; and autosomal recessive generalized EBS1D ({601001}).\n\nForms of EBS caused by mutation in the KRT5 gene are generalized severe EBS2A ({619555}); generalized intermediate EBS2B ({619588}); localized EBS2C ({619594}); generalized autosomal recessive EBS2D ({619599}); EBS2E ({609352}), with migratory circinate erythema; and EBS2F ({131960}), with mottled pigmentation.\n\nEBS3 ({615425}) is caused by mutation in the DST gene ({113810}). EBS4 ({615028}) is caused by mutation in the EXPH5 gene ({612878}).\n\nForms of EBS caused by mutation in the PLEC gene ({601282}) are EBS5A ({131950}), Ogna type; EBS5B ({226670}), with muscular dystrophy; EBS5C ({612138}), with pyloric atresia; and EBS5D ({616487}), autosomal recessive generalized intermediate.\n\nEBS6 ({617294}), with scarring and hair loss, is caused by mutation in the KLHL24 gene ({611295}).\n\nEBS7 ({609057}), with nephropathy and deafness, is caused by mutation in the CD151 gene ({602243}).\n\n<Subhead> Reviews\n\n{8:Has et al. (2020)} reviewed characteristic features and molecular bases of the subtypes of epidermolysis bullosa, and provided a consensus reclassification of disorders with skin fragility.\n\n{7:Fine et al. (2008)} reviewed phenotypic features and molecular bases of all epidermolysis bullosa subtypes, and recommended revisions in the classification system." +131800,"Localized epidermolysis bullosa simplex-1C (EBS1C) is an autosomal dominant skin disorder with intraepidermal blistering after minor trauma mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic (summary by {8:Has et al., 2020}). Localized epidermolysis bullosa simplex has previously been known as the Weber-Cockayne type.\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760}).\n\n<Subhead> Reviews\n\n{8:Has et al. (2020)} reviewed characteristic features and molecular bases of the subtypes of epidermolysis bullosa, and provided a consensus reclassification of disorders with skin fragility.\n\n{6:Fine et al. (2008)} reviewed phenotypic features and molecular bases of all epidermolysis bullosa subtypes, and recommended revisions in the classification system." +131850,"Pretibial dystrophic epidermolysis bullosa is characterized by recurrent blistering and scarring, mainly in the pretibial area. The lesions often show lichenoid features ({7:Naeyaert et al., 1995})." +131880,"In a family with a form of dominant epidermolysis bullosa present from birth or early life and affecting predominantly the hands and feet, {1:Savolainen et al. (1981)} found deficiency of procollagen glucosyltransferase ({EC 2.4.1.66}), the enzyme that catalyzes glucosylation of galactosylhydroxylysyl residues in the biosynthesis of collagen. The deficiency was found in serum, skin and cultured skin fibroblasts, and the urine showed a marked deficiency of galactosylhydroxylysyl-glucosyltransferase. The blisters occurred on any part of the skin that was subjected to trauma, were serous, and healed without scarring. Affected persons in 2 families with recessive epidermolysis bullosa dystrophica and in 1 family with a generalized form of dominant epidermolysis bullosa simplex did not show this enzyme deficiency. This may be an addition to the very small group of dominant disorders with an enzyme deficiency. {2:Winberg and Gedde-Dahl (1986)} were of the view that loose linkage was the best explanation of the finding of galactosylhydroxylysyl glucosyltransferase in the Finnish family since 1 or 2 of the patients with epidermolysis bullosa simplex in this family were enzymologically normal and 2 non-EBS patients had the enzyme deficiency. They calculated a maximum lod score of 1.10 at a map distance of 18% recombination. Chance cosegregation of 2 rare traits is another possibility." +131900,"Generalized intermediate epidermolysis bullosa simplex-1B (EBS1B) is an autosomal dominant disorder of skin in which intraepidermal blistering occurs after minor mechanical trauma. Skin blistering is generalized, begins at birth, and is worsened by heat, humidity, and sweating. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. Intermediate EBS has previously been known as the Koebner type (summary by {12:Has et al., 2020}).\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760}).\n\n<Subhead> Reviews\n\n{7:Fine et al. (1991)} provided a revised classification of the subtypes of inherited epidermolysis bullosa based on clinical and laboratory criteria.\n\n{8:Fine et al. (2008)} reviewed phenotypic features and molecular bases of all epidermolysis bullosa subtypes, and recommended revisions in the classification system.\n\n{12:Has et al. (2020)} reviewed characteristic features and molecular bases of the subtypes of epidermolysis bullosa, and provided a consensus reclassification of disorders with skin fragility." +131950,"Epidermolysis bullosa simplex, Ogna type (EBS5A) is an autosomal dominant skin disorder characterized by onset at birth of skin blistering, mainly acral but occasionally widespread. The course tends to be mild, with postlesional violaceous and hypopigmented macules (summary by {3:Has et al., 2020}). Electron microscopy reveals aberrant ultrastructure of hemidesmosomal attachment plates that is not seen in classic forms of EBS (see, e.g., EBS1A, {131760}) caused by mutation in keratin-5 ({148040}) or -14 ({148066}) ({4:Koss-Harnes et al., 2002}).\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760})." +131960,"Epidermolysis bullosa simplex-2F with mottled pigmentation (EBS2F) is characterized by generalized skin blistering of intermediate severity beginning at birth, with mottled or reticulate pigmentation developing gradually. Focal keratoses of palms and soles and dystrophic, thickened nails develop over time. Although a single pathologic mutation in the KRT5 gene (P25L; {148040.0009}) typically causes this phenotype, EBS patients with mottled pigmentation with other mutations in KRT5 or in other genes have been reported (summary by {5:Has et al., 2020}).\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760})." +132090,"Although {2:Gibbs and Gibbs (1952)} described the electroencephalographic features in 1952, it was {1:Gastaut (1982)} who 30 years later recognized 'benign occipital epilepsy' as a form of partial epilepsy in children. {3:Kuzniecky and Rosenblatt (1987)} studied a family in which 3 sibs had benign occipital epilepsy and a fourth had the EEG findings. Typical EEG abnormality was found in other relatives. These EEG changes were evident particularly in younger members. BOE is characterized by motor seizures, preceded in some cases by visual symptoms, and a relatively benign course. {3:Kuzniecky and Rosenblatt (1987)} cited several other workers who found families with a frequent history of epilepsy." +132100,"The photoparoxysmal response (PPR), also referred to as photosensitivity, is defined as the abnormal occurrence of cortical spikes or spike and wave discharges on electroencephalogram (EEG) in response to intermittent light stimulation ({5:Doose and Waltz, 1993}).\n\nPhotosensitivity is a frequent finding in patients with idiopathic generalized epilepsy (see {600669}), especially those with juvenile myoclonic epilepsy, suggesting a common epileptogenic pathway for both phenomena. The comorbidity of the 2 disorders suggests that presence of PPR may also increase the risk for epilepsy ({9:Stephani et al., 2004}; {10:Tauer et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Photoparoxysmal Response\n\nThe PPR1 locus has been mapped to chromosome 6p21. See also PPR2 ({609572}), mapped to chromosome 13q31, and PPR3 ({609573}), mapped to chromosome 7q32." +132300,"{4:Rowan et al. (1970)} described a girl who had major and minor seizures that were related to pattern and photosensitivity. The mother also had EEG discharges during reading. The daughter's attacks were precipitated by television-viewing. A younger sister had had one febrile convulsion. The father had had epilepsy between ages 5 and 8 years. No studies of him were reported. {1:Daly and Forster (1975)} diagnosed primary reading epilepsy by special electroencephalographic studies in a 16-year-old youth after his first grand mal seizure. Adolescence is the usual age of onset. The seizure occurred while he was reading the sports page of a newspaper, but for about a year he had experienced jaw jerking while reading, especially when reading aloud before an audience. Reading epilepsy was diagnosed in a first cousin and in 2 of the proband's sibs. Some members of the family showed the centrencephalic EEG trait ({117100}). The relation was unclear. Affected mother and daughter were reported by {3:Matthews and Wright (1967)} and 2 sisters by {2:Lassater (1962)}." +132400,"Multiple epiphyseal dysplasia is a skeletal disorder characterized by short stature and early-onset osteoarthrosis ({4:Briggs et al., 1995}).\n\n<Subhead> Genetic Heterogeneity of Multiple Epiphyseal Dysplasia\n\nMultiple epiphyseal dysplasia is a genetically heterogeneous disorder. See also EDM2 ({600204}), caused by mutation in the COL9A2 gene ({120260}); EDM3 ({600969}), caused by mutation in the COL9A3 gene ({120270}); EDM4 ({226900}), caused by mutation in the DTDST gene ({606718}); EDM5 ({607078}), caused by mutation in the MATN3 gene ({602109}); EDM6 ({614135}), caused by mutation in the COL9A1 gene ({120210}); and EDM7 ({617719}), caused by mutation in the CANT1 gene ({613165})." +132500,Whether there are families with this condition transmitted as a simple dominant without telangiectasia is not clear. {1:Fink (1940)} described what was presumed to be such a family with transmission through 6 generations. +132600,"Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a superficial benign skin tumor that arises from hair follicle matrix cells. The lesions occur most commonly in the first or second decades. They occur thoughout the body but most often in the head and neck region (review by {8:Jones et al., 2018})." +132700,"The disorders classically referred to as familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial trichoepithelioma were originally described as distinct clinical entities. Patients with BRSS develop multiple skin appendage tumors including cylindromas, trichoepitheliomas, and spiradenomas. Patients with familial cylindromatosis have only cylindromas, and those with MFT1 have only trichoepitheliomas. However, because these disorders show overlapping phenotypic features, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity ({12:Guggenheim and Schnyder, 1961}; {25:Welch et al., 1968}; {11:Gerretsen et al., 1995}; {15:Lee et al., 2005}; {9:Bowen et al., 2005}; {26:Young et al., 2006}; {17:Saggar et al., 2008}).\n\n{22:Van Balkom and Hennekam (1994)}, who preferred the designation 'dermal eccrine cylindromatosis' for familial cylindromatosis, provided a review. 'Eccrine' referred to histologic evidence that the tumors may originate from the eccrine sweat glands.\n\n{7:Blake and Toro (2009)} provided a detailed review of the spectrum of disorders associated with CYLD mutations." +132800,"Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland ({3:Bose et al., 2006}). MSSE has been considered to be a variety of multiple keratoacanthoma ({1:Biskind et al., 1957}; {14:Haydey et al., 1980})." +132850,"By studying hybrid clones derived from human lymphoblastoid cells and mouse cells, {10:Yamamoto et al. (1978)} found that Epstein-Barr viral DNA and E-B virus-determined nuclear antigen were associated with the presence of chromosome 14. The observation of translocation from chromosome 8 to the long arm of chromosome 14 in lymphomas including Burkitt tumors ({11:Zech et al., 1976}) and the chromosome 14 changes of ataxia-telangiectasia ({208900}) are possibly related. {4:Klein (1981)} concluded that there is no evidence whatever that EBV has any integrated copies in the genome. See the work of {1:Allderdice et al. (1973)}, {7:Spira et al. (1977)}, and {8:Steplewski et al. (1978)}. {3:Henderson et al. (1983)} found integration at 1p35 in a Burkitt cell line of African origin and at 4q25 in a cell line derived from neonatal lymphocytes infected with EBV. {6:Petit (1984)} presented evidence that integration may occur in yet other chromosomes, suggesting that integration is random. {9:Teo and Griffin (1987)} used biotin-labeled EBV-specific probes to detect viral genomes by in situ hybridization. In a cloned cell line, EBV DNA was localized to chromosome 4, but in a noncloned line, the location of integrated viral DNA was essentially random.\n\nBy a highly sensitive fluorescence method for localization of single copy sequences in interphase nuclei and metaphase chromosomes by nonisotopic in situ hybridization, {5:Lawrence et al. (1988)} demonstrated integration of 2 EBV genomes at band 1p35 in a lymphoma cell line. The results indicated that the viral genomes are in opposite orientations and separated by roughly 340 kb of cellular DNA. (The 1p35 site was designated as EBVS1 by HGM11.)\n\nEBV is stably maintained and partially expressed in Burkitt lymphoma and in nasopharyngeal carcinoma. Latently infected cells usually contain multiple episomal copies of nonintegrated viral DNA. In 2 Burkitt cell lines, {3:Henderson et al. (1983)} showed that EBV was also integrated into a chromosome, but different chromosomes--nos. 1 and 4. The persistence of EBV in latently infected cells over years of active cell replication may be explained by integration. It is noteworthy that the site of integration is removed from those involved in the translocation. 'The simplest model to explain EBV association with Burkitt tumors is that EBV induces B-cell proliferation and thereby provides enhanced opportunity for chromosomal translocation and malignant degeneration' ({3:Henderson et al., 1983}).\n\n{2:Fonatsch et al. (1992)} suggested that the expression of CD30 ({153243}), which is located on 1p36, might be regulated by EBV inserted at EBVS1." +132990,"{1:Elkayam et al. (1991)} described a family in which 4 sisters had acute or recurrent erythema nodosum. According to their review of the literature, most of the familial cases had occurred against a background of tuberculosis. Reports of familial erythema nodosum following Streptococcus hemolyticus infection were rarer. Three of the 4 affected sisters were HLA-typed together with 3 unaffected brothers. The 3 affected sisters shared 1 haplotype which was not present in any of the brothers; the brothers in turn shared 1 haplotype that was not present in any of the affected sisters." +133000,"Erythema palmare hereditarium is a benign condition that was first described by {2:Lane (1929)}. Erythema usually presents at birth and remains stable throughout life. Histology shows dilated vessels in the entire dermis with inflammatory infiltrate. Capillaroscopy reveals an increased number of capillary loops running parallel to the surface (summary by {1:Kluger and Guillot, 2010})." +133020,"'Primary erythermalgia' is an autosomal dominant disorder characterized by childhood or adolescent onset of episodic symmetrical red congestion, vasodilatation, and burning pain of the feet and lower legs provoked by exercise, long standing, and exposure to warmth. Relief is obtained with cold ({21:Michiels et al., 2005}). The severity of the disorder may progress with age, and symptoms may extend over a larger body area, such as over the ankles and lower legs, and become constant ({18:Mandell et al., 1977}).\n\n{28:Waxman and Dib-Hajj (2005)} provided a review of primary erythermalgia.\n\nAlthough 'primary' or 'familial erythromelalgia' are sometimes used as alternative terms for primary erythermalgia ({28:Waxman and Dib-Hajj, 2005}), secondary erythromelalgia is a distinct acquired disorder associated with thrombocythemia or myeloproliferative disorders. It has relatively late onset and symptoms are caused by platelet aggregation in end-arteriolar circulation, leading to ischemia and symptoms ({23:Michiels and van Joost, 1990}). Treatment with aspirin, which irreversibly inhibits platelet cyclooxygenase activity, affords relief from acquired erythromelalgia ({22:Michiels et al., 1984}; {10:Drenth et al., 1996}). Similarly, acquired erythromelalgia vanishes with lowering the platelet count to normal with chemotherapy ({20:Michiels et al., 1985}).\n\n{27:Van Genderen et al. (1993)} emphasized the distinction between hereditary erythermalgia and acquired erythromelalgia. In primary erythermalgia, the burning pain, redness, and warmth of feet and lower legs, with relative sparing of the toes, are easily provoked by warmth and exercise. In contrast, in acquired erythromelalgia the burning pain and red congestion preferentially involves one or more toes or fingers or sole of the forefoot ({23:Michiels and van Joost, 1990}). {27:Van Genderen et al. (1993)} noted that 3 of the 5 patients reported by {26:Smith and Allen (1938)} were not consistent with the diagnosis of primary erythromelalgia because the symptoms were relieved promptly by aspirin, consistent with acquired erythromelalgia.\n\n<Subhead> Small Fiber Neuropathy\n\nSmall nerve fiber neuropathy (SFNP) is a relatively common disorder of thinly myelinated and unmyelinated nerve fibers characterized clinically by adult onset of neuropathic pain, often of a burning quality, and autonomic symptoms. Affected individuals have reduced intraepidermal nerve fiber density affecting the small diameter nerve fibers; large diameter fibers are spared (summary by {12:Faber et al., 2012})." +133100,"Familial erythrocytosis-1 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO ({133170}), and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia ({15:Kralovics et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Familial Erythrocytosis\n\nSee also ECYT2 ({263400}), caused by mutation in the VHL gene ({608537}) on chromosome 3p25; ECYT3 ({609820}), caused by mutation in the EGLN1 gene ({606425}) on chromosome 1q42; ECYT4 ({611783}), caused by mutation in the EPAS1 gene ({603349}) on chromosome 2p21; ECYT5 ({617907}), caused by mutation in the EPO gene ({133170}) on chromosome 7q22; ECYT6 ({617980}), caused by mutation in the HBB gene ({141900}) on chromosome 11q15; ECYT7 ({617981}), caused by mutation in the HBA genes ({141800}; {141850}) on chromosome 16p13; and ECYT8 ({222800}), caused by mutation in the BPGM gene ({613896}) on chromosome 7q33.\n\n{20:Stamatoyannopoulos (1972)} reviewed causes of familial erythrocytosis and noted that the disorder may result from defects in the regulation of 2,3-diphosphoglycerate (see {613896} and {222800}).\n\nErythrocytosis may also be caused by somatic mutation in the JAK2 ({147796}) or the SH2B3 ({605093}) gene on chromosome 9p24 and 12q24, respectively.\n\nFor a review of the genetics of congenital erythrocytosis, see {3:Bento et al. (2014)}." +133180,"Familial erythroleukemia is a leukemic or preleukemic state in which red cell proliferation is the predominant feature. Hematologic characteristics include particularly ineffective and hyperplastic erythropoiesis with megaloblastic components accompanied by myeloblastic proliferation of varying degree ({11:Park et al., 2002}).\n\n{11:Park et al. (2002)} discussed the evolution of the definition of 'erythroleukemia,' which is considered by most to be a subtype of acute myelogenous leukemia (AML; {601626}). Controversy about the precise definition of erythroleukemia revolves around the number or percentage of erythroblasts and myeloblasts found in the bone marrow and peripheral circulation. In the French-American-British (FAB) classification system ({2:Bennett et al., 1985}), it is known as AML-M6, whereas in the revised World Health Organization (WHO) classification system ({6:Harris et al., 1999}), it is known as 'AML, not otherwise categorized' ({13:Zini and D'Onofrio, 2004})." +133190,"Spinocerebellar ataxia-34 is an autosomal dominant disorder characterized by slowly progressive cerebellar ataxia. The age at onset is usually during the young adult years, and most patients remain ambulatory until late in life. One family with SCA34 also had onset of erythema and hyperkeratosis in early childhood ({1:Cadieux-Dion et al., 2014}), whereas other families have additional neurologic signs, including ocular movement disturbances and pyramidal tract signs ({3:Ozaki et al., 2015}).\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +133200,"The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by {8:Ishida-Yamamoto et al., 1997}). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by {10:Macfarlane et al., 1991}).\n\n<Subhead> Genetic Heterogeneity of Erythrokeratodermia Variabilis et Progressiva\n\nSee EKVP2 ({617524}), caused by mutation in the GJB4 gene ({605425}); EKVP3 ({617525}), caused by mutation in the GJA1 gene ({121014}); EKVP4 ({617526}), caused by mutation in the KDSR gene ({136440}); EKVP5 ({617756}), caused by mutation in the KRT83 gene ({602765}); EKVP6 ({618531}), caused by mutation in the TRPM4 gene ({606936}); and EKPV7 ({619209}), caused by mutation in the PERP gene ({609301})." +133239,"Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, alcohol consumption, and increased body mass index (BMI) are the main environmental risk factors. In contrast, the particularly high incidence of ESCC in some areas of China, central Asia, and southern Africa is associated with nutritional deficiencies, high intake of nitrosamine-rich or pickled vegetables, and low socioeconomic status; smoking, alcohol consumption, and BMI play a lesser role in these populations. There is a tendency for familial aggregation of ESCC in high-risk geographic areas, suggesting a genetic component to increased susceptibility. Gastric cardia adenocarcinoma is another common type of cancer in China that shows similarities to ESCC in terms of geographic distribution and environmental risk factors (summary by {21:Wang et al., 2010} and {1:Abnet et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Esophageal Cancer\n\nSee a variant in the ADH1B gene ({103720.0001}) for discussion of a possible genetic association with protection against squamous cell aerodigestive tract cancer, including esophageal cancer, in alcohol drinkers. See a variant in the ALDH2 gene ({100650.0001}) for discussion of a possible genetic association with increased risk for esophageal cancer in alcohol drinkers due to interaction between variants in the ADH1B and ALDH2 genes.\n\nSee the S100A14 gene ({607986}) on chromosome 1q21 for a discussion of a possible association between variation in that gene and susceptibility to esophageal squamous cell carcinoma among smokers.\n\n<Subhead> Genetic Heterogeneity of Somatic Mutations in Esophageal Cancer\n\nSomatic mutations in several different genes have been found in esophageal cancer tissue. These genes include TP53 ({191170}), CDKN2A ({600160}), DEC1 ({604767}), DCC ({120470}), DLEC1 ({604050}), TGFBR2 ({190182}), LZTS1 ({606551}), RNF6 ({604242}), WWOX ({605131}), APC ({611731}), and RUNX3 ({600210})." +133240,{1:Longstreth (1982)} observed 68-year-old identical twins and a 52-year-old woman and her 20-year-old son who had dysphagia due to lower esophageal ring. All the affected individuals also had hiatal hernia ({142400}). +133260,Esterase B of erythrocytes is primarily a butyrylesterase. No variants have been reported in population surveys to date. See esterase A ({168820}) and esterase D ({133280}) for bibliography. +133270,Esterase C is a rather weakly staining acetylesterase. No variant has been found. See esterase A ({168820}) and esterase D ({133280}) for bibliography. +133300,"{1:Klebe et al. (1970)}, using mouse-human hybrid somatic cells in culture, found that Es-2 esterase activity was depressed. Human chromosomes are selectively lost from the hybrid cells. Depression of esterase activity was present when human chromosome 10 was present and the activity returned to normal when chromosome 10 was lost. Thus, they concluded that the regulator 'element' is probably linked to chromosome 10. This assignment must be considered 'in limbo' ({2:Ruddle, 1977})." +133540,"Cockayne syndrome B (CSB) is a multisystem disorder characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer (summary by {5:Mallery et al., 1998}).\n\nCockayne syndrome A (CSA; {216400}) is caused by mutation in the ERCC8 gene ({609412}) on chromosome 5q11. Among patients with Cockayne syndrome, approximately 80% have mutations in the ERCC6 gene ({4:Licht et al., 2003}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Cockayne syndrome, see {216400}." +133600,"{2:Gould (1942)} described the condition in grandfather, father and son, i.e., males of 3 generations. X-rays were not described. Exostosis of the heel, possibly of the same type, is a manifestation of the Reiter syndrome, a rheumatic disorder that shows a high order of association with a specific HLA type ({142800}), namely B27 ({1:Brewerton et al., 1973}; {3:McClusky et al., 1984}; {4:Woodrow et al., 1974}). Thus might familial aggregation be accounted for." +133690,"{1:Mollica et al. (1984)} reported a kindred in which 6 persons had anetodermia (macular atrophy of the skin), 8 had multiple exostoses, and 2 had type E brachydactyly seemingly unrelated to exostoses. In all, 10 persons had 1 or more of these features. The authors suggested that this is an autosomal dominant syndrome. See {250450} for another skeletal disorder with anetodermia (or anetoderma)." +133700,"Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent ({32:Peterson, 1989}).\n\nTwo conditions in which multiple exostoses occur are metachondromatosis ({156250}) and the Langer-Giedion syndrome (LGS; {150230}); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP; {135100}), occipital horn syndrome ({304150}), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent ({40:Silverman, 1985}).\n\n<Subhead> Genetic Heterogeneity of Multiple Exostoses\n\nMultiple exostoses type II (EXT2; {133701}) is caused by mutation in the EXT2 gene ({608210}) on chromosome 11p11. Multiple exostoses type III (EXT3; {600209}) has been mapped to a locus on chromosome 19." +133701,"Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see EXT1 ({133700})." +133750,"{1:Char et al. (1975)} described mother and son who had premature ventricular contractions, short stature, microcephaly, dull intelligence, and cutaneous hyperpigmentation. Nonsyndromic premature ventricular contractions occasionally occur in kindreds in a pattern consistent with autosomal dominant inheritance ({115000})." +133780,"Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {22:Poulter et al., 2010}).\n\nIn 31 Chinese pedigrees clinically diagnosed with FEVR, {25:Rao et al. (2017)} analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene ({148760}) was identified in a patient who also exhibited microcephaly (MCLMR; {152950}). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered.\n\n<Subhead> Genetic Heterogeneity of Familial Exudative Vitreoretinopathy\n\nAlso see EVR2 ({305390}), caused by mutation in the NDP gene ({300658}) on chromosome Xp11; EVR3 ({605750}), mapped to 11p13-p12; EVR4 ({601813}), caused by mutations in the LRP5 gene ({603506}) on 11q13.4; EVR5 ({613310}), caused by mutation in the TSPAN12 gene ({613138}) on 7q31; EVR6 ({616468}), caused by mutation in the ZNF408 gene ({616454}) on 11p11; and EVR7 ({617572}), caused by mutation in the CTNNB1 gene ({116806}) on chromosome 3p22." +133800,{1:Virchow (1912)} found a whorl in the hair of the left eyebrow near the nose in 8 members of 2 generations. The progenitor in the previous generation may have shown it also. +133900,"The criteria for the hemifacial type of congenital hypertrophy are (1) unilateral enlargement of the viscerocranium bounded superiorly by the frontal bone (not including the eye), inferiorly by the inferior border of the mandible, medially by the midline of the face, and laterally by the ear, the pinna being included within the hypertropic area, and (2) enlargement of all tissues--teeth, bone, and soft tissue--within this area ({2:Rowe, 1962})." +134000,{1:Trotter and Danforth (1922)} estimated a frequency of 27% in women. Obviously the frequency in man is not determinable. They found a correlation of about 0.8 between mother and daughter and suggested autosomal dominant inheritance. +134300,"{3:Stocks (1922-23)} made a distinction between facial tic (or habit spasm), which is a movement of a coordinated group of facial muscles not entirely beyond the control of the will and not occurring during sleep, and facial spasm, which is usually confined to the muscles supplied by the facial nerve or one branch thereof. The 18-year-old proband in Stocks' Polish family had rapid clonic spasm of the levator menti muscle between the chin and lower lip. The involvement was said to be limited to that muscle in other affected members of the family also. Cold and excitement aggravated the condition. Hellsing's family (1930) showed more extensive involvement, and anisocoria and depressed tendon reflexes were noted. Considerable confusion exists between facial spasm and trembling chin ({190100}). It seems possible that the families of Stocks and of Goldsmith are ones of trembling chin and Hellsing's one of facial spasm." +134400,"{1:Gaston (1966)} reported a family in which a 6-year-old girl had iliofemoral thrombectomy, her father had bilateral leg amputations at age 34 for occlusive arterial disease, a father's cousin had recurrent thrombophlebitis beginning at age 18, and a son of the cousin had recurrent leg and arm thrombophlebitis with pulmonary emboli. Plasma factor V was found to be elevated in these persons." +134500,"{2:Hensen et al. (1965)} described a family in which 8 persons in 4 generations in an autosomal dominant pattern had factor VIII deficiency, normal bleeding times, and lack of factor VIII elevation after infusion of hemophilic plasma. {3:Veltkamp et al. (1968)} confirmed these findings and found that no rise of factor VIII occurred in a boy or a woman with hemophilia A when transfused with plasma from a girl in Hensen's family. In a restudy of Hensen's family, {4:Veltkamp and Van Tilburg (1974)} found that a member of the family showed de novo synthesis of factor VIII after transfusion with either normal or hemophilic cryoprecipitate, a finding consistent with von Willebrand disease. The authors concluded that 'autosomal hemophilia' is merely a variant of von Willebrand disease. {1:Graham et al. (1975)} described a kindred in which hemophilia A, in every way typical, was observed in grandmother, mother and daughter. Factor VIII values were 2 to 4%. Unusual lyonization in females heterozygous for the X-linked disorder was rejected on probabilistic grounds. A previously unrecognized mutation at the von Willebrand locus was considered. Dominant mutation at a fourth (and previously unknown) locus involved in factor VIII synthesis and control was considered possible. Autosomal recessive transmission of hemophilia A is observed with some mutations in the von Willebrand factor gene (e.g., {193400.0011}), which result in defective binding of factor VIII; this has been referred to as the Normandy type of hemophilia A." +134520,"{2:Soff et al. (1981)} reported 4 families with combined deficiency of coagulation factors VIII, IX and XI. Family 1 had several persons with dislocations, e.g., of patella and hips, and several who had possible hemarthrosis related to trauma. Other probands were referred because of the finding of prolonged partial thromboplastin time (PTT) on preoperative testing. Two generations were affected in 2 families, and males and females had similar procoagulant levels and histories of abnormal hemostasis. No male-to-male transmission was observed. The pathogenesis of FMFD V is unknown. The 3 factors are biochemically and functionally different and the possibility of a common precursor or subunit is highly unlikely. Possibly a common regulator is deficient. {1:Angelopoulos et al. (1964)} described combined deficiency of factors VIII, IX and XI in a male with a history of recurrent hemarthroses, hematomas, and ecchymoses. A sister died from excessive hemorrhage, and some others in the family had hemorrhagic tendencies." +134540,"{1:Soff et al. (1981)} studied 2 families with combined deficiency of factors IX and XI. In the first family, 2 sisters had lower levels of factor IX than their mildly affected brother--findings inconsistent with X-linked recessive hemophilia B. In the second family, an 8-year-old boy with Down syndrome had factor IX levels (29-45%) higher than observed in hemophilia B. The authors were uncertain of the mode of inheritance but favored autosomal dominance. No other reported cases are known and the mechanism of the combined deficiency is unclear." +134600,"Fanconi renotubular syndrome is an autosomal dominant renal disorder resulting from decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, renal acidosis, and a tendency toward dehydration. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low molecular weight proteinuria. The disorder is progressive, and some patients will eventually develop renal insufficiency (summary by {9:Lichter-Konecki et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Fanconi Renotubular Syndrome\n\nSee also FRTS2 ({613388}), caused by mutation in the SLC34A1 gene ({182309}) on chromosome 5q35; FRTS3 ({615605}), caused by mutation in the EHHADH gene ({607037}) on chromosome 3q27; FRTS4 ({616026}), which is associated with maturity-onset diabetes of the young (MODY), caused by mutation in the HNF4A gene ({600281}) on chromosome 20q13; and FRTS5 ({618913}), caused by mutation in the NDUFAF6 gene ({612392}) on chromosome 8q22." +134720,"Domestic sheep lamb once each year and most breeds have 1 or 2 lambs at each lambing. The Booroola Merino is of particular interest because it frequently has litter sizes of 3 or more and the exceptional reproductive performance segregates as a single gene. Merino sheep carrying this mutation were identified and selected by 2 commercial sheep breeders, the Seears brothers of 'Booroola,' Cooma, New South Wales, Australia. The Booroola fecundity gene was named FecB by the Committee on Genetic Nomenclature of Sheep and Goats. The effect of the FecB mutation is additive for ovulation rate (the number of ova shed at each ovulatory cycle) and partially dominant for litter size. On average, one copy of the FecB mutation increases litter size by 1 extra lamb. {2:Montgomery et al. (1993)} identified linkage between the ovine mutation and 2 microsatellite markers and epidermal growth factor (EGF; {131530}) which in the human are located at 4q25. The ovine mutation was also linked to secreted phosphoprotein-1 (SPP1; {166490}) which maps to 4q21-q23 in the human. By partial sheep/hamster somatic cell hybridization analysis, {3:Montgomery et al. (1994)} reported that the Booroola mutation is located within a conserved syntenic group that maps to sheep chromosome 6. The linkage group with the FecB locus includes the genes for platelet-derived growth factor receptor alpha (PDGFRA; {173490}) and alpha casein (CSN1; {115450}), providing evidence that a large syntenic group from human chromosome 4q is conserved in sheep.\n\nThe high ovulation rate and litter size of the Booroola strain of Australian Merino sheep is due to the action of the FecB(B) allele of the FecB gene. By genetic analysis of 31 informative half-sib families from heterozygous sires, {4:Mulsant et al. (2001)} showed that the FecB locus is situated in the region of ovine chromosome 6 corresponding to human chromosome 4q22-q23 that contains the bone morphogenetic protein receptor IB gene (BMPR1B; {603248}). They found a nonconservative substitution in the BMPR1B coding sequence to be associated fully with the hyperprolificacy phenotype of Booroola ewes. In vitro, ovarian granulosa cells from ewes homozygous for the B allele were less responsive than granulosa cells from ewes homozygous for the wildtype allele to the inhibitory effect on steroidogenesis of GDF5 ({601146}) and BMP4 ({112262}), natural ligands of BMPR1B. {4:Mulsant et al. (2001)} suggested that ewes homozygous for the B allele would have partial inactivation of BMPR1B, leading to an advanced differentiation of granulosa cells and an advanced maturation of ovulatory follicles.\n\n{1:Duffy et al. (2001)} investigated the possibility that a gene in the 4q21-q25 region predisposes to human dizygotic twinning ({276400}). They collected DNA from 169 pairs and 17 sets of 3 sisters (trios) from Australia and New Zealand who had each had spontaneous DZ twins, mostly before the age of 35, and from a replication sample of 111 families (92 affected sister pairs) from the Netherlands. Exclusion mapping was carried out after typing 26 markers on chromosome 4, of which 8 spanned the region likely to contain the human homolog of the sheep FecB gene. Exclusion of linkage to markers led them to conclude that if there is a gene influencing dizygotic twinning on chromosome 4, its effect must be minor." +134750,"{1:Blendis et al. (1976)} described a mother and her son and daughter with Felty syndrome (rheumatoid arthritis, splenomegaly and neutropenia). Another sib had rheumatoid arthritis alone. Felty syndrome seems to be confined mainly to white males ({5:Termini et al., 1979}; {4:Lewis, 1980}). The low frequency in blacks may be related to the low frequency of HLA-DRw4, which shows association with Felty syndrome.\n\n{3:Ditzel et al. (2000)} identified eukaryotic elongation factor 1A-1 (EEF1A1; {130590}) as an autoantibody in 66% of patients with Felty syndrome." +134780,"Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by {13:Nowaczyk et al., 2010})." +134900,"{1:Self and Matthews (1968)} described a family in which multiple members in 5 generations showed hyperextensible skin and a defect in fibrinolytic activity as indicated clinically by excessive bruising on minor trauma and spontaneous hematomas. Joints were not excessively mobile. The fibrinolytic defect was demonstrated by short euglobulin clot lysis time and decreased factor XIII activity. Male-to-male transmission occurred.\n\nSee plasminogen activator inhibitor-1 (PAI1) deficiency ({613329}) and alpha-2 plasmin inhibitor deficiency ({262850}), which also show increased fibrinolysis with short euglobin lysis time and bleeding tendency." +135100,"Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner, with most patients being confined to a wheelchair by the third decade of life and requiring lifelong care (summary by {35:Petrie et al., 2009})." +135150,"Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax ({16:Nickerson et al., 2002}).\n\nBHD is similar to, but histologically and genetically distinct from, familial multiple discoid fibromas (FMDF; {190340})." +135290,"Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP; {175100}), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene. The desmoid tumors are usually intraabdominal and, although benign, can be locally aggressive and result in significant morbidity. Desmoid tumors can also arise sporadically ({1:Couture et al., 2000})." +135300,"Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva (summary by {7:Hart et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Gingival Fibromatosis\n\nOther loci for gingival fibromatosis have been mapped to chromosome 5q (GINGF2; {605544}), chromosome 2p23.3-p22.3 (GINGF3; {609955}), and chromosome 11p15 (GINGF4; {611010}). GINGF5 ({617626}) is caused by mutation in the REST gene ({600571}) on chromosome 4q12. There is some evidence for a locus on chromosome 2p16-p13 (see MAPPING)." +135400,"Extreme hirsutism with gingival fibromatosis follows a dominant pattern of inheritance ({15:Weski, 1920}; {6:Garn and Hatch, 1950}). There is no necessary relationship between the age of development of the gingival changes and the hypertrichosis. The latter may be present at birth but often appears at puberty ({1:Anderson et al., 1969}).\n\nFor a discussion of genetic heterogeneity of congenital generalized hypertrichosis, see HTC1 ({145701})." +135500,"Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by {3:Balasubramanian and Parker, 2010}).\n\n<Subhead> Genetic Heterogeneity of Zimmermann-Laband Syndrome\n\nZLS2 ({616455}) is caused by mutation in the ATP6V1B2 gene ({606939}) on chromosome 8p21. ZLS3 ({618658}) is caused by mutation in the KCNN3 gene ({602983}) on chromosome 1q21." +135580,"Fibromuscular dysplasia (FMDA) is a nonatherosclerotic, noninflammatory arterial disease that most commonly involves the renal and carotid arteries. The prevalence of symptomatic renal artery FMDA is about 4 in 1,000 and the prevalence of cervicocranial FMDA is about half of that. Histologic classification includes 3 main subtypes, intimal, medial, and perimedial, which may be associated in a single patient. Angiographic classification includes the multifocal type, with multiple stenoses and the 'string of beads' appearance that is related to medial FMDA, and tubular and focal types, which are not clearly related to specific histologic lesions (summary by {13:Plouin et al., 2007})" +135610,"By in situ hybridization, {1:Jhanwar et al. (1985)} assigned an FN site to 11q12.1-11q13.5 in meiotic but not in somatic (mitotic) chromosomes." +135700,"Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' ({5:Engle et al., 1997}; {12:Heidary et al., 2008}).\n\nCFEOM2 ({602078}), an autosomal recessive disorder caused by mutation in the ARIX gene (PHOX2A; {602753}) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position.\n\nThe CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement ({600638}) is caused by mutation in the TUBB3 gene ({602661}) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene ({608283}) on chromosome 12q12; and CFEOM3C ({609384}) maps to chromosome 13q.\n\nCFEOM4 ({609428}), also known as Tukel syndrome, maps to chromosome 21q.\n\nCFEOM5 ({616219}) is caused by mutation in the COL25A1 gene ({610004}) on chromosome 4q25.\n\nSee also NOMENCLATURE." +135750,"Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects (hypoplastic alae nasi, short columella), in connection with absent patella and duplicated fibula (summary by {9:Lohan et al., 2014})." +135800,"{1:Reeves (1967)} reported 2 families, each with multiple affected persons in 3 generations. Generalized joint laxity was not present. Although Reeves favored X-linked dominant inheritance, one instance of male-to-male transmission was diagrammed." +135900,"Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by {40:Vergano and Deardorff, 2014}). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome ({43:Wieczorek et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Coffin-Siris Syndrome\n\nForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 ({614607}), caused by mutation in the ARID1A gene ({603024}); CSS3 ({614608}), caused by mutation in the SMARCB1 gene ({601607}); CSS4 ({614609}), caused by mutation in the SMARCA4 gene ({603254}); CSS5 ({616938}), caused by mutation in the SMARCE1 gene ({603111}); CSS6 ({617808}), caused by mutation in the ARID2 gene ({609539}); CSS7 ({618027}), caused by mutation in the DPF2 gene ({601671}); CSS8 ({618362}), caused by mutation in the SMARCC2 gene ({601734}); CSS9 ({615866}), caused by mutation in the SOX11 gene ({600898}); CSS10 ({618506}), caused by mutation in the SOX4 gene ({184430}); CSS11 ({618779}), caused by mutation in the SMARCD1 gene ({601735}); and CSS12 ({619325}), caused by mutation in the BICRA gene ({605690}).\n\nA similar phenotype, Nicolaides-Baraitser syndrome (NCBRS; {601358}), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 ({600014})." +135950,"{1:Eng and Strom (1987)} reported a mother and daughter who had low-birth-weight dwarfism and intermittent locking of the fingers such that a fist was formed which required traction to be reduced. The mother, who had an adult height of 129.5 cm, also had a ventricular septal defect. The daughter was born by cesarean section because of cephalopelvic disproportion. Birth weight was 2528 g and length was 39.1 cm with a normal head size. The mother was thought to represent a new dominant mutation; her mother was 41 and her father 49 at the time of her birth. The daughter began to have recurrent locking of index and third fingers at age 3. At first these could be reduced by gentle traction. By age 8 or 9 years, the locking was no longer reducible by traction, occurred more often in the winter, and continued for about 2 weeks before spontaneously reducing during sleep." +136000,"Adermatoglyphia is characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles (summary by {2:Nousbeck et al., 2011}).\n\nAlso see Naegeli-Franceschetti-Jadassohn syndrome (NFJS; {161000}) and dermatopathia pigmentosa reticularis (DPR; {125595}), 2 closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics and are caused by heterozygous nonsense or frameshift mutations in the KRT14 gene ({148066})." +136140,"Floating-Harbor syndrome (FLHS) is a rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips ({13:Lacombe et al., 1995}).\n\nRubinstein-Taybi syndrome (see {180849}), which shows phenotypic overlap with Floating-Harbor syndrome, is caused by mutation in the CREBBP gene ({600140}), for which SRCAP is a coactivator." +136150,"Flood factor is defined as the agent in plasma that shortens the slightly long prothrombin time of several asymptomatic members of the Flood family studied by {1:Quick and Hussey (1962)}. Its properties resemble those of factor VII, from which it was distinguishable, however. Ten persons in 3 generations, with male-to-male transmission, were shown to be affected." +136200,"{1:Kim (1969)} noted a father and 2 sons, aged 7 and 11 years, with intermittent episodes of flushing of the ears associated with somnolence. It had its onset in all 3 at about the same time. The mother and another son were unaffected." +136400,"Most cases of this rare lesion have been nonfamilial, although {1:Schock (1969)} described the disorder in an Indian woman and 3 of her daughters. The majority of cases have been in Eskimos and in American Indians, from the Warm Springs Indians of Oregon to the Chavante Indians of Brazil. The disorder may be viral rather than genetic." +136480,"{1:Astle and Rosenbaum (1985)} found superior oblique palsy in 2 members of each of 3 families: mother and daughter, brother and sister, and 2 brothers." +136500,"The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. {2:Cervantes-Barragan et al. (2011)} proposed a classification of FFDD in which there are 4 subtypes. FFDD1 (Brauer syndrome) is characterized by temporal skin depressions that resemble 'forceps marks.' Other facial anomalies, comprising sparse lateral eyebrows, distichiasis, and a flattened nasal tip, are usually mild. Inheritance is autosomal dominant. FFFD2 (Brauer-Setleis syndrome; {614973}) is characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin. Inheritance is autosomal dominant. FFDD3 (Setleis syndrome; {227260}) is characterized by the same facial features as FFDD2, but the inheritance is autosomal recessive. FFDD4 ({614974}) is characterized by isolated, preauricular skin lesions with autosomal dominant or recessive inheritance (summary by {8:Slavotinek et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Focal Facial Dermal Dysplasia\n\nFFDD3 ({227260}) is caused by mutation in the TWIST2 gene ({607556}) on chromosome 2q37. FFDD4 ({614974}) is caused by mutation in the CYP26C1 gene on chromosome 10q23." +136520,"Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia ({106210}), microphthalmia (see {251600}), albinism (see {203100}), or achromatopsia (see {216900}). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by {6:Perez et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Foveal Hypoplasia\n\nFoveal hypoplasia-2 (FVH2; {609218}) is caused by mutation in the SLC38A8 gene ({615585}) on chromosome 16q23." +136540,This is a folic acid-sensitive fragile site; that at 10q25 is the unique BrdU-sensitive fragile site. {1:Sutherland et al. (1982)} studied 2 families in which the same homolog of chromosome pair 10 expressed both the fragile sites on the long arm at 10q23 and 10q25. Recombination between the fragile sites was observed in 3 of 27 offspring. The genetic length of the interval between the 2 fragile sites was estimated to be 11 female centimorgans (95% probability interval: 4-28 cM). The estimate is comparable to those obtained by other methods. +136550,"North Carolina macular dystrophy (NCMD, MCDR1) is a congenital autosomal dominant trait that appears to be completely penetrant. It is generally nonprogressive. The ophthalmoscopic findings are highly variable and are always much more dramatic than one would predict from the relatively good visual acuity level, which ranges from 20/20 to 20/400 (median, 20/60). Patients may have only a few drusen in the central macular region (grade I), confluent drusen confined to the central macular region (grade II), or a severe macular coloboma/staphyloma (grade III) involving 3 to 4 disc areas of the central macular region. Choroidal neovascular membranes develop in some patients. Color vision is normal. Electrophysiologic studies are also normal (summary by {32:Small, 1998}).\n\n<Subhead> Genetic Heterogeneity of Retinal Macular Dystrophy\n\nMCDR2 ({608051}) is caused by mutation in the PROM1 gene ({604365}) on chromosome 4p15, and MCDR3 ({608850}) has been mapped to chromosome 5p15-p13.\n\nSee MAPPING for possible additional loci for MCDR." +136570,There are several phenotypes associated with variation in pericentric region of chromosome 16: see the 16p12.2-p11.2 deletion syndrome ({613604}); see {611913} for a deletion or duplication at 16p11.2 associated with autism (AUTS14); and see {613444} for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay. +136580,"FRA16B is an amplified 33-basepair AT-rich minisatellite repeat. These variable, extremely large repeat expansions of 15 to 70 kb apparently do not interfere with the expression of genes essential for human development since individuals heterozygous or homozygous for FRA16B are normal. Normal chromosomes contain 7 to 12 copies of the repeat ({18:Yu et al., 1997}; summary by {5:Felbor et al., 2003})." +136590,See {136580}. +136600,"It is likely that all cases of true Friedreich ataxia have recessive inheritance. However, {2:Sylvester (1958)} reported what he termed Friedreich ataxia in a father and 6 of his 9 children. Optic atrophy and nerve deafness were associated features. The family described by {1:Spillane (1940)}, in which 21 persons (12 males and 9 females) in 6 generations had pes cavus and absent deep tendon reflexes, probably had Roussy-Levy hereditary areflexic dystasia ({180800})." +136620,"{5:Sutherland et al. (1980)} and {2:Scheres and Hustinx (1980)} identified a new class of fragile site at 10q25 that requires bromodeoxyuridine in the culture medium for expression. It appears to be inherited in a mendelian dominant manner and is polymorphic in the Australian population where the frequency was found to be about 1 in 60 no. 10 chromosomes ({5:Sutherland et al., 1980}). {3:Sutherland (1981)} ascertained this polymorphism 49 times. In one couple, both parents and some of the first-degree relatives of each were heterozygous for the heteromorphism. Two of their children were homozygous, yet phenotypically normal. {4:Sutherland (1982)} pointed out that 'this fragile site and its non-fragile allelomorph can be considered to constitute the first true chromosomal polymorphism to be described in man.' The 'gene frequency' was 0.013; the population was in Hardy-Weinberg equilibrium and segregation analysis confirmed codominant inheritance.\n\n{1:Hewett et al. (1998)} reported that the bromodeoxyuridine-inducible, distamycin A-insensitive fragile site FRA10B is composed of AT-rich expanded repeats of approximately 42 bp. Differences in repeat motif length or composition between different FRA10B families indicate multiple independent expansion events. Some FRA10B alleles comprise a mixture of different expanded repeat motifs. {1:Hewett et al. (1998)} observed several allele lengths and grouped them into 4 categories: short normal (approximately 66% of alleles), intermediate normal (approximately 33%), long normal (less than 1%), and FRA10B expanded (approximately 1%). FRA10B fragile site and long normal alleles share flanking polymorphisms. Somatic and intergenerational FRA10B repeat instability analogous to that found in expanded trinucleotide repeats supports dynamic mutation as a common mechanism for repeat expansion." +136630,"FRA12A is a folate-sensitive chromosomal fragile site prone to breakage. No consistent phenotype has been observed with FRA12A, and it can be inherited without phenotypic effect ({1:Berg et al., 2000}). However, impaired intellectual development with or without other anomalies has been described in patients with over 40% of cells expressing FRA12A ({6:Winnepenninckx et al., 2007})." +136640,{1:Sutherland (1982)} found 1 example of a 9q32 fragile site in a population study. +136660,"According to {3:Sutherland (1979)}, a fragile site has the following characteristics: (1) It is a nonstaining gap of variable width usually involving both chromatids. (2) The site is always at exactly the same point on the chromosome. (3) The site is inherited in a dominant fashion. (4) Fragility must be evident by the production, under appropriate in vitro conditions, of acentric fragments, deleted chromosomes, and triradial figures. Using these criteria, {2:Shabtai et al. (1982)} demonstrated a fragile site at 17p12. {1:Izakovic (1984)} found homozygosity for fragile site 17p12 in a healthy man." +136680,"Frasier syndrome is a rare disorder defined by pseudohermaphroditism and progressive glomerulopathy ({5:Frasier et al., 1964}; {6:Haning et al., 1985}; {7:Kinberg et al., 1987}). Patients present with normal female external genitalia, streak gonads, and XY karyotype, and frequently develop gonadoblastoma ({3:Blanchet et al., 1977}). Glomerular symptoms consist of childhood proteinuria and nephrotic syndrome, characterized by nonspecific focal and segmental glomerular sclerosis, progressing to end-stage renal failure in adolescence or early adulthood. Wilms tumor is not a usual feature ({1:Barbaux et al., 1997})." +136760,"The term frontonasal dysplasia was coined by {15:Sedano et al. (1970)} to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline ({16:Sedano and Gorlin, 1988}). Most reported cases are sporadic, but a few familial cases have been reported.\n\n{19:Twigg et al. (2009)} characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.\n\nAlso see acromelic frontonasal dysplasia (AFND; {603671}), frontofacionasal dysplasia (FFND; {229400}), oculoauriculofrontonasal syndrome (OAFNS; {601452}), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome ({304110}).\n\n<Subhead> Genetic Heterogeneity of Frontonasal Dysplasia\n\nFrontonasal dysplasia-2 (FND2; {613451}) is caused by mutation in the ALX4 gene ({605420}) on chromosome 11p11. Frontonasal dysplasia-3 (FND3; {613456}) is caused by mutation in the ALX1 gene ({601527}) on chromosome 12q21." +136800,"Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane. These excrescences, called guttae, are the clinical hallmark of FECD and become more numerous with progression of the disease. As the endothelial layer develops confluent guttae in the central cornea, the cells are no longer able to keep the cornea dehydrated and clear (summary by {2:Baratz et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Fuchs Endothelial Corneal Dystrophy\n\nMore common, late-onset forms of FECD have been shown to be caused by mutation in the SLC4A11 gene ({610206}) on chromosome 20p13 (FECD4; {613268}), in the ZEB1 gene ({189909}) on chromosome 10p11.2 (FECD6; {613270}), and in the AGBL1 gene ({615496}) on chromosome 15q25 (FECD8; {615523}).\n\nOther loci for late-onset FECD have been identified on chromosomes 13pter-q12.13 (FECD2; {610158}), 18q21.2-q21.32 (FECD3; {613267}), 5q33.1-q35.2 (FECD5; {613269}), and 9p (FECD7; {613271})." +136830,"In cultured lymphoblasts of Fu-1 phenotype, {2:Tummler et al. (1984)} found that alpha-L-fucosidase synthesis during cell growth was proportional to the general amount of protein. On the other hand, in cells derived from persons possessing at least one FUCA*2 allele, the amount of enzyme increased progressively during the log-phase of growth. They proposed the existence of a regulatory locus (symbolized FUCT) which maps close to the FUCA locus leading to linkage disequilibrium. The FUCT locus appears to be specific for alpha-L-fucosidase; 4 other lysosomal enzymes showed no similar effects. Studies in inbred strains of mice have shown such regulators of lysosomal enzymes (see review by {1:Paigen, 1979}) but none has been demonstrated hitherto in man." +136880,"This form of fleck retina disease (see {228980}) is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested ({5:Krill and Folk, 1962}; {4:Krill, 1977})." +136900,"Sorsby fundus dystrophy is an autosomal dominant retinal dystrophy characterized by the loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life (summary by {22:Wijesuriya et al., 1996})." +137000,"Futcher line is a linear discontinuity in intensity of pigmentation on the upper arm and deltoid area of blacks. It is located on the lateral aspect of the arm and marks the junction between the dorsal and ventral parts of the extremity. {1,2:Futcher (1938, 1940)} found it bilaterally in 17.5% of blacks regardless of age, sex and intensity of overall pigmentation. Another 2% had a line on one side only. Apparently no family studies have been done. This and other forms of pigmentary demarcation lines were discussed by {3:Selmanowitz and Krivo (1975)}." +137050,"In a woman who had frequent respiratory infections, her mother and her son, {1:Moroz et al. (1971)} described absence of assembly of alpha heavy and light chains to form IgA. Free alpha chains were present in the serum and urine, and the urine also contained free light chains. Studies in cultured tonsillar tissue showed synthesis and secretion of free alpha chains and light chains and normally assembled IgG and IgM." +137100,"Immunoglobulin (Ig) A deficiency (IGAD) is characterized by decreased or absent levels of serum IgA in the presence of normal serum levels of IgG and IgM in a patient older than 4 years of age in whom other causes of hypogammaglobulinemia have been excluded. IgA in the dimeric form is the dominant immunoglobulin in luminal secretions, such as saliva, tears, bronchial secretions, nasal mucosal secretions, and mucous secretions of the small intestine. Individuals with selective IgA deficiency may be asymptomatic or have recurrent sinopulmonary and gastrointestinal infections, allergic disorders, and autoimmune disorders. The diagnosis of IgA deficiency depends on the measurement of monomeric IgA concentrations in serum; thus individuals with IgA deficiency may have IgA in mucosal systems, which may offer some protection (review by {32:Yel, 2010}).\n\n<Subhead> Genetic Heterogeneity of IgA Deficiency\n\nThe IGAD1 locus maps to chromosome 6p21. See also IGAD2 ({609529}), which is caused by mutation in the TNFRSF13B gene ({604907}) on chromosome 17p11." +137130,"{4:Teebi and Al-Saleh (1989)} described a 32-year-old healthy man in whom fullness of the stomach invariably resulted in 3 or 4 uncontrollable sneezes immediately after meals. The phenomenon was also present in his 3 brothers, 1 of his 2 sisters, his father, an uncle and the uncle's son, and the grandfather. The proband became curious about the phenomenon when his daughter began to show it at the age of 1 year. The 'stomach sneeze reflex' in this family had no relation to the type of food and occurred only when the stomach was full to the extent that no more could be eaten. There were usually 3 or 4 sneezes but sometimes as many as 15 consecutive sneezes. No one in the family had persistent otolaryngeal or allergic disease or other conditions known to produce paroxysmal sneezing ({3:Kaplan and Lanoff, 1970}; {1:Foster and Nichol, 1957}). Furthermore, photic sneeze reflex ({100820}) was denied. With a combination of good fun and serious intent, {2:Hall (1990)} suggested that 'the newly described condition be called the SNATIATION reflex--a combination of sneezing and satiation and easily remembered by the acronymous handle of Sneezing Noncontrollably At a Time of Indulgence of the Appetite--a Trait Inherited and Ordained to be Named.' In seriousness, she pointed out that we teach human genetics by diseases and know few examples of nonpathologic traits determined by single genes." +137200,"NMAN is an autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A1, {118210}) and distal hereditary motor neuropathy (see, e.g., HMN1, {182960}). Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves (summary by {6:Zimon et al., 2012})." +137210,"{1:Yin and Nowak (1988)} described a 64-year-old white female and her 81-year-old mother, both of whom had intrathoracic gastric volvulus. A large hiatus hernia was present in both. In the daughter, even the duodenal bulb was displaced into the chest. This may be fundamentally the same disorder as that described in entry {142400}." +137215,"Diffuse gastric cancer and lobular breast cancer syndrome (DGLBC) is an autosomal dominant cancer predisposition syndrome. Heterozygous CDH1 mutation carriers have a 70 to 80% lifetime risk of developing diffuse gastric cancer. In addition to gastric cancer, up to 60% of female mutation carriers develop lobular carcinoma of the breast, and some carriers may develop colorectal cancer. Identification of mutation carriers is important, because the characteristic microscopic foci of signet ring cell adenocarcinoma in HDGC usually involves the submucosa and is often not readily detectable by routine upper endoscopy screening (summary by {7:Fitzgerald et al., 2010}).\n\nDGLBC is considered to be a distinct disease entity from the more common sporadic occurrence of gastric cancer ({613659}), which can be associated with environmental factors such as Helicobacter pylori infection, high-fat diet, or smoking and is often associated with somatic mutations in disease tissue." +137220,"Two peptides, identical except that one is composed of 9 amino acids and the other of 10, have been identified ({1:Heathcote and Washington, 1970})." +137245,"The concept of mucosa-associated lymphoid tissue (MALT) lymphomas was introduced by {3:Isaacson and Wright (1983)}. MALT lymphomas are now recognized as a distinct subtype of non-Hodgkin lymphoma ({605027}). B-cell lymphomas of mucosa-associated lymphoid tissue (MALT lymphomas) are the most common form of lymphoma arising in extranodal sites, in most cases arising in the gastric mucosa ({2:Isaacson and Spencer, 1995})." +137370,"{1:Beighton et al. (1986)} described a family with severe 'knock-knees' and variable lesser malalignment at the elbows and wrists in members of 3 generations. The disorder was considered to be the consequence of hypoplasia of the corresponding bony condyles with subsequent progressive degenerative osteoarthropathy. Three generations and 5 sibships were affected with instances of male-to-male transmission. The family lived on the island of St. Helena in the mid-Atlantic ({3:Shine, 1970}). See {273050} for description of a probable autosomal recessive disorder with genu valgum as a conspicuous feature.\n\n{2:Ghorbani and Carapetian (1994)} described an Iranian Kurdish family in northwest Iran in which 5 brothers who had passed puberty showed severe genu valgum and a sixth brother showed initial symptoms at the age of 12 years. Since the father was unaffected and 2 affected sons were by a first marriage and the others by a second, {2:Ghorbani and Carapetian (1994)} suggested that the disorder represented a new autosomal dominant mutation present as gonadal mosaicism in the father. Five daughters were unaffected, but only 1 postpubertal son, suggesting male-limited expression." +137440,"Gerstmann-Straussler disease is a rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain ({7:Gerstmann et al., 1936}). Gerstmann-Straussler disease typically presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years. GSD can be distinguished from CJD by earlier age at onset, longer disease duration, and prominent cerebellar ataxia ({17:Masters et al., 1981}).\n\nOn the basis of clinical and pathologic criteria, {10:Hsiao et al. (1989)} suggested that Gerstmann-Straussler syndrome could be classified into 3 forms: an 'ataxic' form, a 'dementing' form, and a dementing form that is accompanied by pathologic quantities of neurofibrillary tangles (NFTs). However, these distinctions may only underscore the phenotypic variability in presentation and progression of the disease ({18:Panegyres et al., 2001}).\n\nPRNP-related amyloid angiopathy is usually not a feature of CJD, GSD, or FFI. However, PRNP-immunoreactive amyloid deposits within the walls of cerebral vessels have been observed in patients with truncating mutations in the PRNP gene. Data suggest that C-terminal-truncated PRNP proteins lacking the glycosylphosphatidylinositol (GPI) anchor required to attach the protein to the plasma membrane may readily form amyloid fibrils that result in cerebrovascular amyloid deposition (summary by {22:Revesz et al., 2009})." +137500,{1:Davidson et al. (1960)} described giant neutrophil leukocytes in 7 members of 3 generations of a family. One to two percent of leukocytes showed the change. +137550,"Congenital melanocytic nevus syndrome is characterized by pigmentary skin defects apparent at birth. Most individuals have 1 or more large or giant lesions greater than 20 cm and up to over 60 cm in diameter, which may cover up to 80% of total body area. These lesions may or may not be hairy. Smaller 'satellite' pigmented lesions numbering in the hundreds may also be present all over the body. Congenital melanocytic nevi (CMN) can be associated with malignant melanoma (see CMM1, {155600}), but the risk appears to be low, ranging from 1 to 2% for all individuals, but rising to 10 to 15% in those with very large nevi (greater than 40 cm). A small subset of patients with CMNS have abnormalities of the central nervous system, known as 'neurocutaneous melanosis' or 'neuromelanosis' ({249400}), which may be symptomatic. Patients with CMNS also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip (summary by {11:Kinsler et al., 2008}; {13:Kinsler et al., 2012}).\n\nSpitz nevi are benign melanocytic melanomas composed of epithelioid or spindle cell melanocytes. They usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms (summary by {15:Sarin et al., 2013}). Nevus spilus, also known as speckled lentiginous nevus, is a congenital hyperpigmented patch that progressively evolves, with affected individuals developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanomas (summary by {14:Sarin et al., 2014})." +137575,"Familial gigantiform cementoma (FGC) is a rare autosomal dominant tumor that is benign but can result in disfigurement of the facial skeleton. Onset of symptoms usually occurs in adolescence, with rapid growth causing expansion of the maxilla and mandible, resulting in significant facial deformity and malocclusion. Radiologic examination defines 3 stages of the lesions: osteolytic, with well-defined radiolucent areas; cementoblastic, in which cementum is formed within the fibrous tissue, represented by radiopacities within the radiolucent zones; and mature, in which the fibrous tissue is almost completely replaced by cementum, represented by a large radioopaque area surrounded by a radiolucent space separating the tumor from normal bone. Histologic examination shows confluent sclerotic avascular cementum, with distinct areas of lamellar bone in some cases. Examination under polarized light reveals a varied birefringent pattern typical of cementum (summary by {2:Finical et al., 1999}). Affected individuals may develop osteopenia and sustain long bone fractures after minor trauma ({5:Moshref et al., 2008}; {7:Wang et al., 2015})." +137580,"Tourette syndrome is a neurobehavioral disorder manifest particularly by motor and vocal tics and associated with behavioral abnormalities. Tics are sudden, brief, intermittent, involuntary or semi-voluntary movements (motor tics) or sounds (phonic or vocal tics). They typically consist of simple, coordinated, repetitive movements, gestures, or utterances that mimic fragments of normal behavior. Motor tics may range from simple blinking, nose twitching, and head jerking to more complex throwing, hitting, or making rude gestures. Phonic tics include sniffling, throat clearing, blowing, coughing, echolalia, or coprolalia. Males are affected about 3 times more often than females, and onset usually occurs between 3 and 8 years of age. By age 18 years, more than half of affected individuals are free of tics, but they may persist into adulthood (review by {51:Jankovic, 2001})." +137600,"Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {3:Cheong et al., 2016}).\n\nAnterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon ({5:Gould and John, 2002}).\n\nPatients with ASGD4 have been reported with iridogoniodysgenesis or Peters anomaly subtypes.\n\nIridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by {12:Mears et al., 1996}).\n\nPeters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea ({14:Peters, 1906})." +137700,"In mother and daughter and probably in the mother's father, {1:Minas and Podos (1968)} observed open angle glaucoma with elevated episcleral venous pressure, manifested by dilated episcleral veins." +137760,"{23:Quigley (1993)} reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the normal range, although this cannot be considered part of the definition of the disease, since some patients have normal intraocular pressures. Changes in the optic disc, either inherited or acquired, contribute to the development of the disorder, which leads to visual loss from increasing nerve fiber layer atrophy. {21:Quigley et al. (1994)} stated that POAG should be reviewed as a multifactorial disorder.\n\n<Subhead> Genetic Heterogeneity of Primary Open Angle Glaucoma\n\nOther forms of primary open angle glaucoma include GLC1A ({137750}), caused by mutation in the MYOC gene ({601652}) on chromosome 1q24; GLC1B ({606689}) on chromosome 2cen-q13; GLC1C ({601682}) on chromosome 3q21-q24; GLC1D ({602429}) on chromosome 8q23; GLC1F ({603383}), caused by mutation in the ASB10 gene on chromosome 7q36; GLC1G ({609887}), caused by mutation in the WDR36 gene ({609669}) on chromosome 5q22; GLC1H ({611276}) on chromosome 2p16-p15; GLC1I ({609745}) on chromosome 15q11-q13; GLC1J ({608695}) on chromosome 9q22; GLC1K ({608696}) on chromosome 20p12; GLC1L (see {137750}) on chromosome 3p22-p21; GLC1M ({610535}) on chromosome 5q22; GLC1N ({611274}) on chromosome 15q22-q24; GLC1O ({613100}), caused by mutation in the NTF4 gene ({162662}) on chromosome 19q13; GLC1P ({177700}), caused by an approximately 300-kb duplication on chromosome 12q24, most likely involving the TBK1 gene ({604834}).\n\nNail-patella syndrome (NPS; {161200}), which is caused by mutation in the LMX1B gene ({602575}) on chromosome 9q34, has open angle glaucoma as a pleiotropic feature.\n\n<Subhead> Other Forms of Glaucoma\n\nFor a general description and a discussion of genetic heterogeneity of congenital forms of glaucoma, see GLC3A ({231300}).\n\nSee {606657} for a discussion of normal tension glaucoma (NTG) or normal pressure glaucoma (NPG), a subtype of POAG.\n\nSee {618880} for a discussion of primary closed-angle glaucoma." +137763,"{1:Walsh and Montplaisir (1982)} described an unusual family in which the mother and 4 of 9 sibs had glaucoma with maximal intraocular pressure in the morning and heavy snoring. Two other surviving brothers had only sleep apnea with no glaucoma. In those who had recordings, episodes of sleep apnea tended to occur and to be more prolonged in rapid-eye-movement sleep." +137800,"Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by {61:Kyritsis et al., 2010}).\n\nEpendymomas are rare glial tumors of the brain and spinal cord ({114:Yokota et al., 2003}).\n\nSubependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by {92:Scheinker (1945)}. They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by {89:Ryken et al., 1994}).\n\nGliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (see {276300}), melanoma-astrocytoma syndrome ({155755}), neurofibromatosis-1 (NF1; {162200}) and NF2 ({101000}), and tuberous sclerosis (TSC1; {191100}). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however.\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Glioma\n\nOther glioma susceptibilities include GLM2 ({613028}), caused by variation in the PTEN gene ({601728}) on chromosome 10q23; GLM3 ({613029}), caused by variation in the BRCA2 gene ({600185}) on chromosome 13q13; GLM4 ({607248}), mapped to chromosome 15q23-q26.3; GLM5 ({613030}), mapped to chromosome 9p21; GLM6 ({613031}), mapped to chromosome 20q13; GLM7 ({613032}), mapped to chromosome 8q24; GLM8 ({613033}), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene ({606478}) on chromosome 7q31.\n\nSomatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR; {131550}), ERBB2 ({164870}), LGI1 ({604619}), GAS41 ({602116}), GLI ({165220}), DMBT1 ({601969}), IDH1 ({147700}), IDH2 ({147650}), BRAF ({164757}), PARK2 ({602544}), TP53 ({191170}), RB1 ({614041}), PIK3CA ({171834}), 10p15, 19q, and 17p13.3." +137900,"{1:Wysocki and MacKiewicz (1965)} described father and son with abnormal beta (2A)-globulin and a defect in coagulation and immunologic responses. A circulating anticoagulant directed against factor VIII and various manifestations interpreted as autoimmune were described. In 3 other family members, beta (2A)-globulin was increased and in 2 was associated with a clotting defect. Another relative had the clotting defect without the protein abnormality. Except for the father and son, these persons were all asymptomatic." +137920,"Renal cysts and diabetes syndrome (RCAD) is an autosomal dominant multisystemic disorder with significant phenotypic heterogeneity. It is characterized by (1) nondiabetic renal disease resulting from abnormal renal development, and (2) diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelvises, abnormal calyces, small kidney, single kidney, and horseshoe kidney. Some patients with renal disease have hyperuricemic nephropathy with tubulointerstitial changes on biopsy, consistent with autosomal dominant tubulointerstitial kidney disease (ADTKD). Affected individuals may also have abnormalities of the genital tract, including vaginal aplasia, rudimentary uterus, bicornuate uterus, epididymal cysts, and atresia of the vas deferens ({3:Bingham et al., 2001}; {8:Fajans et al., 2001}; {1:Bellanne-Chantelot et al., 2004}; {7:Edghill et al., 2006}; summary by {6:Devuyst et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of MODY, see {606391}.\n\nFor a discussion of genetic heterogeneity of ADTKD and a discussion of the revised nomenclature of these disorders, see ADTKD1 ({162000}).\n\nThe renal abnormalities are part of a spectrum of malformations known as congenital anomalies of the kidney and urinary tract (CAKUT; see {610805}) (summary by {16:Nakayama et al., 2010})." +137940,"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by {3:Moalem et al., 2015})." +137950,"Glomerulopathy with fibronectin deposits (GFND) is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (FN1; {135600}) ({3:Castelletti et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Glomerulopathy with Fibronectin Deposits\n\nThe GFND1 locus maps to chromosome 1q32. See also GFND2 ({601894}), which is caused by mutation in the FN1 gene ({135600}) on chromosome 2q35." +138000,"Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneous venous malformations (VMCM; {600195}), but clinically are distinguishable: they have a cobble-stone appearance, have a consistency harder than that of venous malformations, and are painful on palpation. Histologically, GVMs are distinguishable by the presence of pathognomonic rounded cells (glomus cells) around the distended vein-like channels. The term glomus (Latin for ball) stems from the morphologically similar contractile cells of the Sucquet-Hoyer arteriovenous anastomoses in glomus bodies that are involved in cutaneous thermoregulation. Glomus cells in GVMs appear to be incompletely or improperly differentiated vascular smooth muscle cells, since they stain positively with smooth muscle cell alpha-actin ({102620}) and vimentin ({193060}) (summary by {4:Brouillard et al., 2002}). The genetic distinctness of glomuvenous malformations from mucocutaneous venous malformations is indicated by the fact that mutations have been found in the TIE2/TEK gene ({600221}) in mucocutaneous venous malformations and not in glomuvenous malformations." +138060,"See GRL ({138040}) for description of the glucocorticoid receptor-like gene mapped to chromosome 16 by Southern analysis of DNA from a mouse-human hybrid cell line and by chromosome sorting and spot-blot analysis ({1:Hollenberg et al., 1985}). Because of the uncertainty of the nature of this 'gene,' it is also termed GRL-like and symbolized GRLL1." +138070,Renal glycosuria and hyperglycinuria without increased excretion of other amino acids were the features observed by {1:Kaser et al. (1962)} in 14 persons in 7 sibships of 3 generations of 1 kindred with probable autosomal dominant inheritance. +138110,"By hybridization studies of DNA prepared from flow-sorted human chromosomes with a cDNA probe for the X-linked G6PD ({305900}), {1:Yoshida and Lebo (1986)} concluded that chromosome 17 contains DNA sequences that hybridize with the G6PD probe. The G6PD-like locus on chromosome 17 could be a pseudogene or perhaps a functional gene for the fetal brain-specific G6PD isozyme." +138277,"{1:Nathan et al. (1994)} identified a membrane form of L-glutamate decarboxylase and purified it to apparent homogeneity from hog brain. The purified GAD was established as an integral membrane protein by phase-partitioning assay, charge-shift electrophoresis, and chromatography on a hydrophobic interaction column. This membrane GAD has a native molecular mass of 96 +/- 5 kD and is a homodimer of 48 +/- 3 kD subunits. Immunoprecipitation and immunoblotting demonstrated antibodies against this membrane GAD in sera from patients with insulin-dependent diabetes mellitus. {1:Nathan et al. (1994)} suggested that this form of GAD is more likely to be involved in the pathogenesis of insulin-dependent diabetes and related autoimmune disorders such as stiff man syndrome ({184850}) than is soluble GAD." +138340,"{1:Seidegard and Pero (1985)} found high glutathione transferase activity toward trans-stilbene oxide in resting mononuclear leukocytes of about 46% of 248 persons. The population showed 3 separate groups: high, intermediate, and low (or absent) activity. The proportions were consistent with Hardy-Weinberg distribution and homozygosity for a dominant gene in the case of the persons with high activity. The relation of this phenotype to other GST loci is not known." +138500,"The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG; {242600}), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age ({3:Chesney, 2001}). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by {2:Broer et al., 2008}).\n\nA phenotype of combined glucosuria and glycinuria has been described (see {138070})." +138710,"{1:Karlsson et al. (1981)} demonstrated electrophoretic variation of a large-molecular-weight glycoprotein found in postmortem kidney and in urine, and apparently specific to kidney. The method of study was SDS electrophoresis followed by (125)I-labeled lectin detection." +138770,"{1,2:Kupchik et al. (1990, 1992)} described a mother and infant daughter with goniodysgenesis (Rieger malformation), mental retardation and short stature. They also showed small ears, microcephaly, short nose with depressed nasal bridge, and small hands. This was considered to be different from the SHORT syndrome ({269880}), the Rieger syndrome ({180500}), and other previously described disorders. The Rieger changes in the anterior chamber of the eye consisted of iris hypoplasia, a prominent Schwalbe line, and iris adhesions that attached to the Schwalbe line." +138790,"{1:Daneman et al. (1985)} reported 3 cases, 2 of them in a brother and sister, of children with multinodular goiter, cystic kidney disease, and digital anomalies (bilateral digitalized thumbs and preaxial polydactyly of the feet). (The 'digitalized' thumb was presumably triphalangeal; see {174500}.) In the family with affected sibs, the mother, maternal grandmother, and 2 maternal aunts had digitalized thumbs but no known abnormality of thyroid or kidneys. In the third case, in a 14-year-old boy who presented with goiter, there was postaxial polydactyly of the right hand, and right nephrectomy for 'unilateral polycystic kidney disease' was performed at 2 months of age. A 12-year-old brother had postaxial polydactyly of the left hand and a 19-year-old sister had goiter. This may be a syndrome of variable expression and incomplete penetrance inherited as a dominant." +138800,"Multinodular goiter (MNG) is a common disorder characterized by nodular enlargement of the thyroid gland. In MNG1, some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary (summary by {10:Rio Frio et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Multinodular Goiter\n\nOther MNG loci map to chromosome Xp22 (MNG2; {300273}) and chromosome 3q26 (MNG3; {606082})." +139000,"This condition is characterized by redness and marked sweating confined to the nose and surrounding area of the face, with red papules and sometimes numerous small vesicles. It occurs most commonly in children, clearing up at puberty but in rare instances persisting into adulthood. {2:Hellier (1937)} described affected mother and daughter. {1:Binazzi (1958)} described a kindred with 20 affected members in a clearly autosomal dominant pedigree pattern." +139090,"The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alpha-granules and of the proteins contained in alpha-granules. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. Many patients with gray platelet syndrome develop a stable myelofibrosis (summary by {18:Nurden and Nurden, 2007}).\n\nCases suggesting autosomal dominant and autosomal recessive inheritance have been described, indicating that GPS is probably a genetically heterogeneous disorder with more than one molecular cause." +139190,"GHRH is a hypothalamic peptide that stimulates synthesis and proliferation of pituitary somatotroph cells as well as secretion of growth hormone (see {139250}). GHRH is initially synthesized as a preprohormone whose N-terminal signal sequence is enzymatically cleaved to generate the mature 44-amino acid form of GHRH and a C-terminal GHRH-related peptide (GHRH-RP) ({1:Alba and Salvatori, 2004})." +139210,"Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including microcephaly, midface hypoplasia, prognathism, and blepharophimosis, typical skeletal anomalies, including short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria, and cardiovascular defects with a striking fibroproliferative response to surgical intervention. All reported cases have been sporadic (summary by {1:Bachmann-Gagescu et al., 2011} and {11:Lin et al., 2016})." +139280,"From study of human-Chinese hamster hybrids, {1:Meera Khan et al. (1974)} concluded that 2 guanylate kinase components, GUK1 ({139270}) and GUK2, demonstrated electrophoretically, are determined by separate loci on chromosome 1 distal to q22. GUK3 ({139290}) is also believed to be determined by a separate locus. {2:Monn and Christiansen (1972)} screened 385 persons in a systematic search for genetically determined variants in man, but in vain." +139290,"{2:Jamil et al. (1975)} concluded that the isozymes of guanylate kinase, GUK1 ({139270}), GUK2 ({139280}), and GUK3, are determined by 3 separate gene loci. Electrophoretically detectable red cell GUK3 variation was found in the orangutan by {1:Jamil and Fisher (1977)}. They and {3:Meera Khan (1980)} concluded that the variation was on the basis of a pair of alleles at an autosomal locus. The chromosomal site of GUK3 in man is unknown." +139300,"Aromatase excess syndrome is an autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females ({10:Tiulpakov et al., 2005})." +139393,"Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis ({13:Yuki and Tsujino, 1995}; {5:Koga et al., 2005}). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection ({9:Nachamkin, 2001}).\n\nAlthough rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance ({3:Geleijns et al., 2004})." +139400,"Whether the whorl in the scalp hair of the occipital area shows clockwise or counterclockwise rotation is genetically determined. {1:Bernstein (1946)} suggested that clockwise direction is dominant to counterclockwise direction. {2:Brewster (1925)} reported a family with double whorls or double crown. {5:Lauterback and Knight (1927)} described 3 crowns in 1 subject, 1 of which was conspicuous in the frontal area. Frontal 'cowlicks' are usual in the FG syndrome ({8:Thompson et al., 1985}). {7:Sharma (1987)} found a possible association between twinning and double occipital hair whorls; such was found in 25 of 244 twins, but in only 4 of 166 singletons.\n\n{4:Klar (2003)} provided evidence for a link between handedness ({139900}) and the orientation of hair whorls on the scalp, suggesting the possibility that the same system that patterns hair may also play a role in left-right asymmetry in the brain. In a sample of the general population, consisting of mostly right-handers (RH), he found that 42 (8.4%) of 500 individuals showed counterclockwise whorl rotation. Non-right-handers (NRH, i.e., left-handers and ambidextrous) displayed a random mixture of clockwise and counterclockwise swirling patterns. Confirming this finding, in another independent sample of individuals chosen because of their counterclockwise rotation, half were found to be NRH. {4:Klar (2003)} stated that these findings of coupling in RH and uncoupling in NRH unequivocally established that these traits develop from a common genetic mechanism. Another finding, concerning handedness of the progeny of discordant monozygotic twins, suggested that lefties are 1 gene apart from righties. Together, these results suggested that a single gene controls handedness, whorl orientation, and twin concordance and discordance, and that neuronal and visceral forms of bilateral asymmetry are coded by separate sets of genetic pathways.\n\nHair whorls and other macroscopic hair patterns are found in a variety of mammalian species, including humans. {3:Guo et al. (2004)} showed that the frizzled-6 gene (FZD6; {603409}) controls macroscopic hair patterning in the mouse. They found that Mfz6 is expressed in the skin and hair follicles and that targeted deletion of the Mfz6 gene produced stereotyped whorls on the hind feet, variable whorls and tufts on the head, and misorientation of hairs on the torso. Embryo chimera experiments implied that Mfz6 acts locally to control or propagate the macroscopic hair pattern and that epithelial cells rather than melanocytes are the source of Mfz6-dependent signaling. The Mfz6 phenotype strongly resembled the wing-hair and bristle patterning defects observed in Drosophila 'frizzled' mutants. These data implied that hair patterning in mammals uses a FZD6-dependent tissue polarity system similar to the one that patterns the Drosophila cuticle." +139500,The hairy ears trait consists of long hairs growing from the helix of the pinna; see {3:Dronamraju (1964)} and {5:Stern et al. (1964)}. +139600,"Hairy elbows is a rare form of localized hypertrichosis. The lanugo type of hair usually appears in infancy, becomes coarser during early childhood, and regresses at adolescence (summary by {6:Visser et al., 2002})." +139630,"In India, {1:Goswami (1980)} found a frequency of 7.35% for hair on the tip of the nose. Of 1,220 females examined, none had the trait. The age of onset was about 16 years, with greatest prevalence in the age group 46-55. The pedigrees left the genetics unclear. No female transmitted the trait. Some males represent skipped generations." +139750,{1:Emery and Nelson (1970)} reported a mother and daughter with the same disorder. The mother's condition was known by history only. Nonprogressive deformities of the hands were first noted in childhood. The face was flat. Both were about 5 feet tall. The daughter was mentally retarded but the mother was considered unusually intelligent. The daughter was 'floppy' as a neonate. The first three metacarpophalangeal joints had flexion contractures and the thumbs showed contractures in extension at the interphalangeal joints. All the toes were clawed. +139800,"From twin data, {3:Freire-Maia (1961)} concluded that hand clasping is determined by genetic factors to some (perhaps an important) extent. If in clasping the hands with entwining fingers those of the right hand are positioned above the corresponding fingers of the left hand, the individual is classified as R with the converse labeled L. The R frequency is higher in females than in males. {4:Lai and Walsh (1965)} doubted that genetic factors are significant in determining this trait. {1:Falk and Ayala (1971)} found significant parent-offspring correlations and suggested polygenic inheritance. {5:Martin (1975)} presented twin data that he concluded exclude genetic determination.\n\n{7:Reiss (1999)} found that 55% of the population are left-hand claspers, 44% are right-hand claspers, and the remaining 1% have no preference. They mapped the incidence of left-hand clasping in various population worldwide and reviewed 18 family studies." +140000,"Hand-foot-genital syndrome (HFGS) is an autosomal dominant condition characterized by distal limb and distal genitourinary tract malformations. The most striking limb abnormality is first-digit hypoplasia, comprising short, proximally placed thumbs with hypoplastic thenar eminences and short, medially deviated halluces. There is also ulnar deviation of the second fingers, clinodactyly/brachydactyly of the fifth fingers, brachydactyly of the second to fifth toes, and delayed ossification, fusion, and shortening of the carpals and tarsals. These abnormalities appear to be fully penetrant, bilateral, and symmetrical, with little variation in severity. In contrast, genitourinary tract abnormalities are incompletely penetrant and variably severe, and include hypospadias in males, Mullerian duct fusion defects in females, vesicoureteric reflux, and pelviureteric junction obstruction (summary by {6:Goodman et al., 2000})." +140300,"In a family with several cases of Hashimoto struma, {8:DeGroot et al. (1962)} demonstrated an abnormal, small, iodinated protein in the serum and suggested that a defect in thyroid basement membrane may account for the appearance of this protein in the blood. Three sibs, their father, and their paternal aunt were affected. The paternal grandparents were dead. {11:Hall et al. (1962)} presented data that they felt supported autosomal dominant inheritance of the tendency to thyroid autoimmunity. {10:Hall et al. (1964)} studied 6 families in which the father had thyroid autoantibody and the mother did not. In each case female children had thyroid autoantibodies. Transplacental transmission was thus ruled out and genetic transmission was suggested. {30:Volpe et al. (1963)} also found an impressive familial aggregation. {18:Masi et al. (1964)} found examples of mother-daughter, father-daughter, 3 sisters, and 2 sisters with Hashimoto struma. See review of {17:Masi et al. (1965)}.\n\n{19:Matsuura et al. (1980)} described familial neonatal transient hypothyroidism in the offspring of a mother with Hashimoto thyroiditis. They attributed the disorder in the infants to transplacental passage of maternal TSH-binding inhibitor immunoglobulins. {16:Leung (1985)} reported a family in which the mother and 3 offspring had 'hashitoxic' periodic paralysis, i.e., Hashimoto thyroiditis, thyrotoxicosis, and periodic paralysis (see {188580}). {6:Conaway et al. (1985)} observed familial aggregation of lymphocytic thyroiditis in borzoi dogs. They suggested autosomal recessive inheritance. {25:Shuper et al. (1987)} found renal impairment in a 12-year-old boy and his 2 sisters, all of whom had Hashimoto thyroiditis. Three generations of the family had autoimmune thyroid disease. Proteinuria disappeared in all 3 children during the 3.5 years of follow-up.\n\n{21:Phillips et al. (1990)} found that autoantibodies to thyroid peroxidase (TPO; {606765}) were inherited as a dominant mendelian trait in females, with reduced penetrance in males. Similar results were obtained with thyroglobulin autoantibodies. Genetic linkage to HLA (see {142800}) was excluded. Because of potential bias in the study carried out in families with autoimmune thyroid disease, {22:Phillips et al. (1991)} studied the inheritance of thyroid autoantibodies in 49 families unselected for autoimmune thyroid disease. Among 24 families with facioscapulohumeral muscular dystrophy, 10 with Friedreich ataxia, and 15 with schizophrenia, the prevalence rates of TPO and thyroglobulin antibodies were 27.8% and 26.7%, respectively, in women and 9.2% and 11.7%, respectively, in men. In 40 families in which one or more individuals had one or both of the autoantibodies, segregation analysis supported mendelian dominant inheritance in women but not in men.\n\nThe interaction of FAS ({134637}) with its ligand, FASL ({134638}), regulates a number of physiologic and pathologic processes of cell death. {9:Giordano et al. (1997)} noted that triggering of FAS contributes to the regulation of the immune response and tissue homeostasis, as well as to the immunologic clearance of virus or tumor cells. Hashimoto thyroiditis is an autoimmune disorder in which destructive processes overcome the potential capacity of thyroid replacement, estimated as about 5- to 10-fold in a life time. Apoptosis has been occasionally observed in histologic sections of normal thyroid; however, apoptotic cell death is abnormally accelerated during the pathologic phases, leading to clinical hypothyroidism in HT. {9:Giordano et al. (1997)} demonstrated that thyrocytes from HT glands, but not from nonautoimmune thyroids, express FAS. Interleukin-1-beta ({147720}), abundantly produced in HT glands, induced FAS expression in normal thyrocytes, and crosslinking of FAS resulted in massive thyrocyte apoptosis. The ligand for FAS was shown to be constitutively expressed both in normal and HT thyrocytes and was able to kill FAS-sensitive targets. Exposure to IL-1-beta induced thyrocyte apoptosis, which was prevented by antibodies that block FAS, suggesting to {9:Giordano et al. (1997)} that IL-1-beta-induced FAS expression serves as a limited factor for thyrocyte destruction. Thus, FAS-FASL interactions among HT thyrocytes may contribute to clinical hypothyroidism.\n\nInterferon-gamma (IFNG; {147570}) had been implicated with contradictory results in the pathogenesis of autoimmune (Hashimoto) thyroiditis, the third most prevalent autoimmune disease in the United States ({13:Jacobson et al., 1997}) and the most frequent cause of hypothyroidism in adults ({31:Weetman, 1998}). To test whether the local production of IFN-gamma can lead to thyroid dysfunction, {5:Caturegli et al. (2000)} generated transgenic mice that express constitutive Ifng in thyroid follicular cells. This expression resulted in severe hypothyroidism, with growth retardation and disruption of the thyroid architecture. The hypothyroidism derived from a profound inhibition of the expression of the sodium-iodide symporter gene.\n\n{20:Ochi et al. (2002)} identified alpha-enolase (ENO1; {172430}) as the autoantigen in Hashimoto encephalopathy, a rare autoimmune disease associated with Hashimoto thyroiditis.\n\nThe autoimmune thyroid diseases (AITDs) include Hashimoto thyroiditis and Graves disease (GRD; {275000}). In both Graves disease and Hashimoto thyroiditis, thyroid-reactive T cells are formed and infiltrate the thyroid gland. {27:Tomer et al. (1999)} performed a whole-genome linkage study of a dataset of 56 multiplex, multigenerational AITD families (354 individuals) using 387 microsatellite markers. They identified 6 loci that showed evidence for linkage to AITD. Only one locus, on chromosome 6 (AITD1; 80 cM) was linked with both. This locus was close to, but distinct from, the HLA region. One locus on chromosome 13 (HT1; 96 cM) was linked to HT (maximum lod score, 2.1), and another locus on chromosome 12 (HT2; 97 cM) was linked to HT in a subgroup of the families (maximum lod score, 3.8). Three loci showed evidence for linkage with GRD: GD1 on chromosome 14 (99 cM; maximum lod score, 2.5), GD2 on chromosome 20 (56 cM; maximum lod score, 3.5), and GD3 on chromosome X (114 cM; maximum lod score, 2.5). Since GD2 showed the strongest evidence for linkage to GRD, they fine-mapped this locus to a 1-cM interval between markers at 55 and 56 cM on chromosome 20. The authors concluded that GRD and Hashimoto thyroiditis are genetically heterogeneous, with only one locus in common to both diseases on chromosome 6; that only one HT locus was identified in all families, probably due to heterogeneity of the HT phenotype; and 3 loci were shown to induce genetic susceptibility to GRD by interacting with each other. One of them, GD2, was fine-mapped to a 1-cM interval.\n\n{23:Sakai et al. (2001)} undertook a genomewide analysis of 123 Japanese sib pairs affected with AITD. At 19 regions on 14 chromosomes, the multipoint maximum lod score was greater than 1. Chromosome 5q31-q33 yielded suggestive evidence for linkage to AITD as a whole, with a maximum lod score of 3.14 at marker D5S436, and chromosome 8q23-q24 yielded suggestive evidence for linkage to HT, with a maximum lod score of 3.77 at marker D8S272.\n\n{1:Akamizu et al. (2003)} performed an association study using 6 microsatellite markers situated at or near the 5q31-q33 locus associated with AITD in a set of 440 unrelated Japanese AITD patients and 218 Japanese controls. They found significant allelic association between AITD and 3 markers located in 5q23-q33. Graves disease demonstrated significant associations with 2 of these markers, while Hashimoto thyroiditis did not show significant associations with any markers. When patients with Graves disease were stratified according to clinical manifestations, the association was significantly different from the other subgroup of each category.\n\nFetal microchimerism, the engraftment of fetal progenitor cells into maternal tissues, has been implicated in the etiology of autoimmune diseases. {15:Klintschar et al. (2001)} used PCR analysis to determine whether microchimerism occurred in thyroid gland specimens from female Hashimoto thyroiditis patients. Using primers unique to a Y-chromosomal sequence (SRY; {480000}) and primers for a sequence that is Y/X-chromosomal homologous except for a 6-bp deletion in the X-chromosomal sequence (amelogenin; {300391}), {15:Klintschar et al. (2001)} detected microchimerism in 8 of 17 Hashimoto patients, but in only 1 of 25 controls (nodular goiters). Both groups were of similar age and had comparable numbers of pregnancies and numbers of sons. The authors concluded that microchimerism is significantly more common in Hashimoto patients than in patients suffering from nodular goiter. They suggested that microchimerism might play a role in the development of Hashimoto disease, although they cannot completely exclude that microchimerism is just an 'innocent bystander' in a process triggered by other mechanisms.\n\nGeneralized vitiligo (see {606579}) is a common autoimmune disorder in which patchy loss of skin and hair pigmentation results from loss of pigment-forming melanocytes from the involved regions. {2:Alkhateeb et al. (2002)} studied a 3-generation family in which vitiligo and Hashimoto thyroiditis occurred in numerous individuals. A genomewide scan of 24 family members, including 14 affected with autoimmune disease, revealed linkage of an oligogenic autoimmune susceptibility locus, termed AIS1 ({607836}), to a 14.4-cM interval at chromosome 1p32.2-p31.3 (multipoint lod score = 2.90). A 2-locus analysis of Hashimoto thyroiditis in family members segregating an AIS1 susceptibility allele showed suggestive linkage to markers in chromosome 6p22.3-q14.1 (affecteds-only multipoint lod score = 1.52), in a region spanning both the major histocompatibility complex and AITD1 ({27:Tomer et al., 1999}). The authors concluded that the 1p AIS1 locus is associated with susceptibility to autoimmunity, particularly vitiligo, in this family, and that a chromosome 6 locus, most likely AITD1, may mediate the occurrence of Hashimoto thyroiditis in AIS1-susceptible family members.\n\n{28:Ueda et al. (2003)} identified polymorphisms of the CTLA4 gene ({123890}) as candidates for primary determinants of risk for the common autoimmune disorders Graves disease ({275000}), autoimmune hypothyroidism, and type I diabetes (see {222100} and {601388}). In humans, disease susceptibility was mapped to a noncoding 6.1-kb 3-prime region of CTLA4, the common allelic variation of which (see {123890.0002}) was correlated with lower mRNA levels of the soluble alternative splice form of CTLA4. In a mouse model of type I diabetes, susceptibility was also associated with variation in CTLA4 gene splicing with reduced production of a splice form encoding a molecule lacking the CD80 ({112203})/CD86 ({601020}) ligand-binding domain.\n\n{7:Criswell et al. (2005)} determined that the R620W functional SNP in PTPN22 ({600716.0001}) conferred risk of 4 separate autoimmune phenotypes (type 1 diabetes, {222100}; rheumatoid arthritis, {180300}, systemic lupus erythematosus, {152700}; and Hashimoto thyroiditis) in a collection of 265 multiplex families assembled by the Multiple Autoimmune Disease Genetics Consortium (MADGC). In each of these families, at least 2 of the 9 'core' autoimmune diseases were present.\n\n{3:Allen et al. (2003)} studied AITD in a homogeneous founder Caucasian population, the Old Order Amish of Lancaster County, Pennsylvania. They found AITD, defined by the presence of circulating antimicrosomal antibodies, to be relatively common in the Amish, with a prevalence of 22.7%. The prevalence of AITD-hypothyroidism was 9.2%. They performed a genomewide linkage analysis with 373 short tandem repeat markers in 445 subjects from 29 families. They observed suggestive evidence of linkage of AITD to a locus on chromosome 5q11.2-q14.3 (lod, 2.30; P = 0.0006 at 94 cM; closest marker, D5S428); {23:Sakai et al. (2001)} had also found linkage to the long arm of chromosome 5 in their study of Japanese sib pairs with AITD-hypothyroidism. AITD-hypothyroidism showed a more modest linkage peak to the same region (lod, 1.46; P = 0.005). The authors concluded that a gene on chromosome 5q11.2-q14.3 is likely to contribute to susceptibility to AITD in the Amish.\n\n{29:Vaidya et al. (2002)} reviewed the genetics of AITD including hyperthyroid Graves disease, Hashimoto (goitrous) thyroiditis, atrophic autoimmune hypothyroidism, postpartum thyroiditis, and thyroid-associated orbitopathy (TAO). These different manifestations of AITD may occur synchronously, most frequently as the combination of Graves disease and TAO. Together, AITDs are the commonest autoimmune disorders in the population, affecting between 2 and 4% of women and up to 1% of men. Furthermore, AITD prevalence increases with advancing age, with more than 10% of subjects over 75 years of age having biochemical evidence of mild (subclinical) hypothyroidism, the majority of which is due to autoimmune disease. They reviewed the associations of AITD with other autoimmune disorders, monogenic and chromosomal disorders that have AITD as a component, and AITDs as complex genetic traits. Additionally they reviewed the relationship of HLA (see {142800}) and MHC-linked genes with AITD, particularly with Graves disease, and the association of the CTLA4 gene and its polymorphisms with Graves disease and AITD.\n\n{26:Tomer et al. (2003)} performed a whole-genome linkage study in an expanded dataset of 102 multiplex families with AITD (540 individuals), using 400 microsatellite markers. Seven loci showed evidence for linkage to AITD (either Graves disease or Hashimoto thyroiditis). Three loci, on chromosomes 6p (AITD1; {608173}), 8q (AITD3; {608175}), and 10q (AITD4; {608176}), showed evidence for linkage with both Graves disease and Hashimoto thyroiditis (maximum multipoint heterogeneity lod scores (hlod) 2.0, 3.5, and 4.1, respectively). Three loci showed evidence for linkage with Graves disease: on 7q, 14q, and 20q. One locus on 12q showed evidence of linkage with Hashimoto thyroiditis, giving an hlod of 3.4. Comparison with the results obtained in an earlier dataset showed that the 20q locus (GRD2; {603388}) and the 12q locus (Hashimoto thyroiditis 2; HT2) continued to show evidence for linkage in the expanded dataset. The results demonstrated that multiple genes may predispose to both Graves disease and Hashimoto thyroiditis and that some may be common to both diseases and some unique. The loci that continue to show evidence for linkage in the expanded dataset represent serious candidate regions for gene identification.\n\n{14:Kacem et al. (2003)} analyzed polymorphic microsatellite markers around the SLC26A4 gene ({605646}), which encodes pendrin, an apical transporter of iodide to the thyroid, to investigate the role of SLC26A4 in the genetic control of AITDs. Using case-control and family-based designs in a sample from Tunisia, {14:Kacem et al. (2003)} found evidence that SLC26A4 may be a susceptibility gene for AITDs, with varying contributions in Graves disease and Hashimoto thyroiditis.\n\n{4:Barbero et al. (2004)} described 3 patients with choanal atresia ({608911}) whose mothers received methimazole during pregnancy for the treatment of thyrotoxicosis (Graves disease and Hashimoto thyroiditis).\n\n{24:Shirasawa et al. (2004)} used linkage and association analyses of over 500 autoimmune thyroiditis patients and controls to identify a novel zinc finger gene, designated ZFAT1 ({610931}), as a susceptibility gene at 8q23-q24. The T allele of the SNP Ex9b-SNP10 ({610931.0001}) was associated with increased risk for AITD (dominant model: odds ratio = 1.7, P = 0.00009). The authors suggested that Ex9b-SNP10 may play a critical role in B cell function by affecting the expression level of a truncated ZFAT1 splice variant through regulating expression of a small antisense transcript, and that this regulatory mechanism of SNPs might be involved in controlling susceptibility or resistance to human disease.\n\nUsing FISH, {12:Invernizzi et al. (2005)} assessed the presence of monosomy X in women with systemic sclerosis (SSC; {181750}) or AITD and age-matched healthy women. The rate of monosomy X increased with age in all 3 groups, but it was significantly higher for women with SSC or AITD. Monosomy X was more frequent in peripheral T and B lymphocytes than in other blood cell populations, and there was no evidence of male fetal microchimerism. {12:Invernizzi et al. (2005)} proposed that chromosome instability is common to women with these autoimmune diseases and that haploinsufficiency for X-linked genes may be a critical factor for the female predominance in autoimmune disease." +140350,"Hawkinsinuria (HWKS) is an autosomal dominant inborn error of metabolism. Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Patients continue to excrete the hawkinsin metabolite in their urine throughout life ({3:Danks et al., 1975}; {9:Tomoeda et al., 2000})." +140400,"Progressive familial heart block type II (PFHB2) is an autosomal dominant disorder, similar to type I progressive familial heart block (PFHB1; see {113900}). The pattern of PFHB2, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes ({1:Brink and Torrington, 1977})." +140450,"{1:Ruiz de la Fuente and Prieto (1980)} described a new form of the heart-hand syndrome in 3 generations of a Spanish family with several instances of male-to-male transmission. The hand abnormality was brachydactyly, resembling brachydactyly type C ({113100}). The cardiac defect was intraventricular conduction defect in 3 and sick sinus syndrome in 1. The brachydactyly affected mainly the middle phalanges; the index and fifth fingers were more severely affected than the others. A wedge-shaped extra ossicle on the proximal phalanx of both index fingers reduced them in length and caused them to deviate toward the ulnar side of the hand. The feet were affected, but to a lesser degree." +140500,{2:Nora et al. (1970)} concluded that the frequency of congenital heart malformations in first-degree relatives of probands is close to the square root of the population frequency that {1:Edwards (1960)} suggested should be the case for a multifactorial disorder. {3:Zetterqvist (1971)} reported a family with many cases of various cardiac malformations. +140600,"In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints ({6:Stefansson et al., 2003}). Patients with osteoarthritis may have one, a few, or all of these sites affected. Heberden nodes are bony excrescences of the phalanges of the distal interphalangeal joints of the fingers ({5:Stecher, 1955}). They can be considered a variety of osteoarthrosis, or degenerative arthritis.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of osteoarthritis, see OS1 ({165720})." +140700,"This is a form of nonspherocytic hemolytic anemia of Dacie type I (in vitro autohemolysis is not corrected by added glucose). After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability.\n\nHeinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies; {208530})." +140850,"This combination of unknown etiology was described by {5:Leiber (1982)} in 2 unrelated German infants and by {4:Igarashi et al. (1985)} in a Japanese infant. In the last case, supraumbilical raphe appeared as a whitish groove between the umbilicus and xiphoid with interruptions. In the German cases, it resembled a healing wound.\n\n{3:Gorlin et al. (1994)} found no evidence of sex predilection among 42 reported examples of a combination of sternal nonunion and supraumbilical raphe. However, among an additional 31 cases in which the triad included facial hemangioma, there was almost exclusive female occurrence.\n\n{1:Crisponi et al. (2000)} reported 2 unrelated females with this condition. One had a sternal cleft, hemangiomas, and supraumbilical midline raphe, and the other had a sternal cleft, hemangiomas, and coarctation of the aorta with a right aortic arch.\n\n{2:Forzano et al. (2005)} described a mother and 2 daughters who had midline raphe and sternal defects; other features included double central incisors, congenital heart defect, neck webbing, bicornuate uterus, and minor anomalies such as long face with hypotelorism. None of the 3 had hemangiomas." +140900,{1:Bandler (1960)} reported a family in 3 generations of which there were 3 proved and 2 possible instances of cavernous hemangioma involving almost the entire small intestine. One patient had mucocutaneous pigment spots precisely like those of the Peutz-Jeghers syndrome. See blue rubber nevus syndrome ({112200}). +141000,"With giant hemangiomas in small children, thrombocytopenia and red cell changes compatible with trauma ('microangiopathic hemolytic anemia') have been observed. The mechanism of the hematologic changes is obscure. No evidence of a simple genetic basis has been discovered.\n\n{5:Propp and Scharfman (1966)} reported a male infant with thrombocytopenia associated with a large hemangioma of the right arm and axilla. The patient had low platelet counts with a markedly diminished platelet survival time and an absence of platelet agglutinin or complement-fixing antibody. Radiochromate-tagged platelet studies suggested sequestration in the hemangioma, liver, and spleen. A combination of reticulocytosis and helmet cells was observed, possibly indicating an associated microangiopathic hemolytic anemia. The hemangioma eventually regressed with radiotherapy.\n\n{2:David et al. (1983)} reported 2 unrelated infants with thrombocytopenia and hemangiomas of the neck and left knee, respectively, both of whom were treated with corticosteroids without notable improvement. The hemangioma of the knee ultimately showed slow spontaneous resolution, but the cervical hemangioma required radiotherapy.\n\n{4:Larsen et al. (1987)} reported their 15-year experience managing 6 children with capillary hemangiomas associated with consumptive coagulopathy. In 3 of their patients, the hemangiomas remained small for many months and then suddenly enlarged, with the simultaneous appearance of a hemorrhagic diathesis. The duration of the thrombocytopenia ranged from 5 to 20 months; a variety of therapies were used. All of the patients eventually experienced resolution of their lesions and a concomitant reversal of the coagulopathy.\n\n{7:Sencer et al. (1987)} reported the case of a newborn infant with splenic hemangioendothelioma with thrombocytopenia, anemia, and disseminated intravascular coagulation who was successfully treated with splenectomy.\n\n{9:Vellodi and Bini (1988)} described a severe hyperkalemia resulting in 'malignant ventricular arrhythmias.' They attributed the hyperkalemia to breakdown of erythrocytes. Breakdown of platelets is another possible source.\n\n{3:Enjolras et al. (1997)} examined biopsy specimens from 15 patients with KMS and concluded that the vascular lesion underlying KMS is not a 'true,' classic, involuting type of hemangioma of infancy. It is a different vascular tumor with a resemblance pathologically to either tufted angioma or kaposiform hemangioendothelioma in association with lymphatic-like vessels. {3:Enjolras et al. (1997)} noted that in KMS, when cessation of platelet consumption is achieved, the tumoral mass rapidly resolves and the patient enters a biologic and clinical remission. Thus, in KMS it appears not only that the vascular anomaly triggers platelet trapping and consumption but that platelet activation inside these lesions sustains the growth of a cellular tumor component.\n\n{8:Szlachetka (1998)} reviewed the approximately 205 reported cases of KMS and discussed the pathophysiology, clinical manifestations, differential diagnosis, and treatment modalities of the disorder." +141200,"Benign familial hematuria is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane (GBM), and can be considered the mildest end of the spectrum of renal diseases due to type IV collagen defects of the basement membrane. The most severe end of the spectrum is represented by Alport syndrome ({301050}; {203780}, {104200}), which results in end-stage renal failure and may be associated with hearing loss and ocular anomalies (review by {5:Lemmink et al. (1996)})." +141405,"Hemifacial spasm is usually diagnosed in persons in their mid-forties. It often begins with involuntary clonic contractions or twitching of the orbicularis oculi muscle and progresses to involve the entire musculature innervated by the facial nerve (summary by {3:Coad et al., 1991} and {6:Miwa et al., 2002})." +141500,"Familial hemiplegic migraine-1 (FHM1) is an autosomal dominant form of migraine with aura. Typical attacks include a unilateral motor deficit associated with paresthesias, speech disturbances, or visual signs. These aura symptoms last from 10 minutes to a few hours and are followed by a migrainous headache. In some families, affected individuals have permanent cerebellar symptoms, such as nystagmus and slowly progressive mild to moderate statokinetic ataxia. In some cases, cerebral magnetic resonance imaging (MRI) reveals cerebellar atrophy (summary by {7:Ducros et al., 1999})." +141700,"{2:Agre et al. (1981)} presented evidence for reduction in the number of high affinity ankyrin binding sites. The findings were consistent with an abnormal organization of band 3 ({109270}) in the membrane. ({1:Agre (1986)} concluded that this change was probably a secondary one.) The patients showed chronic hemolytic anemia with very fragile microcytic red cells that had a great variety of shapes. Spectrin binding was normal and patients' ankyrin and spectrin (both radioiodinated) competed normally for the binding sites on normal red cell membranes. None of the individual components appeared to have abnormal thermal sensitivity. Inside-out vesicles from patients bound less radioiodinated ankyrin by about 50% than did control vesicles. One family was black and had an affected male with affected sister and brother and healthy parents who had normal red cell morphology. (Mistaken paternity was not revealed by genetic marker studies.) The proband, aged 23, had first required blood transfusion at age 5 years. Splenectomy at age 18 restored him to health. The affected sister, younger than the proband, underwent splenectomy and cholecystectomy with clinical improvement. The other affected sib had abnormal cell morphology but compensated hemolysis. The second family was white. The proband had splenectomy at age 51 years, following which she enjoyed good health. Her son had uniformly elliptocytic red cells but no anemia. Two other children had normal red cells." +141749,"Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations. Expression of the HBG1 and HBG2 genes, which encode the gamma isoforms of HbF, is normally suppressed shortly before birth and replaced by expression of the beta- (HBB; {141900}) or delta- (HBD; {142000}) chains, which form adult hemoglobin. Adults normally have less than 1% HbF, whereas heterozygotes for HPFH have 5 to 30% HbF. HPFH heterozygotes have essentially normal red cell indices and a rather homogeneous distribution of HbF among red cells, termed 'pancellular.' Homozygotes for HPFH can express HbF in up to 100% of red blood cells ({56:Thein and Craig, 1998}).\n\nDelta-beta thalassemia is a hemoglobin disorder characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis from the affected chromosome. Individuals with delta-beta thalassemia have hypochromic, microcytic anemia and increased HbF, which may mitigate the anemia depending on the level of HbF. Delta-beta thalassemia and some forms of HPFH result from deletions within the beta-globin gene cluster on chromosome 11p15; this has been referred to as 'deletional' HPFH. HPFH can also result from point mutations in the promoter regions of the gamma globulin genes HBG1 and HBG2; this has been referred to as 'non-deletional' HPFH ({47:Ottolenghi et al., 1982}; {23:Forget, 1998}).\n\n{23:Forget (1998)} noted that HPFH and delta-beta thalassemia are not clearly distinct disorders, but rather show partially overlapping features that may defy classification. Higher expression of HbF is often termed 'pancellular,' whereas lower expression of HbF is often termed 'heterocellular,' although these represent a spectrum.\n\nApproximately 10% of the population has HPFH manifest as modest elevations of HbF (1 to 4%) present in a subset of red cells (about 4.5%) termed F cells. This is also sometimes referred to as 'heterocellular' HPFH, and is considered to be a multifactorial trait influenced by multiple genetic loci ({56:Thein and Craig, 1998})." +142000,"The delta locus determines the delta, or nonalpha, chain of hemoglobin A(2) (alpha-2/delta-2). {35:Jeffreys (1979)} found an example of a restriction enzyme variant in a DNA intervening sequence of the delta-globin gene. {73:Spritz et al. (1980)} could not 'identify unambiguously the structural basis of the low level of expression characteristic of the delta-globin gene.' They discussed the basis for evolution of duplicate adult beta-type genes. {62:Petes (1982)} suggested that some of the structural variants of the delta chain may be the consequence of a nonreciprocal transfer of information from the beta-globin gene to the delta-globin gene by a process termed 'intrachromosomal gene conversion' ({40:Klein and Petes, 1981}). {47:Losekoot et al. (1989)} described a patient who was a compound heterozygote for delta-0-thalassemia and for a deletion type of thalassemia. By amplifying the delta gene by PCR and sequencing it, they showed that the mutant gene had an insertion of an extra nucleotide at the third position of codon 91 of the second exon which gave rise to a premature stop codon at position 94. They presented a model to explain the insertion, namely, the formation of a hairpin loop by quasipalindromic sequences.\n\n{12:Carver and Kutlar (1995)} listed 27 delta-chain variants as of the beginning of 1995.\n\nThe first-to-be discovered fusion hemoglobin, hemoglobin Lepore (which has several forms) has HBD sequence at the 5-prime end and HBB ({141900}) sequence at the 3-prime end. See, for example, Hb Lepore (Baltimore) ({142000.0019}) and Hb Lepore (Boston) ({142000.0020}). Formed by nonhomologous pairing and unequal crossing over, the fusion protein resulting from the complementary event is referred to as Hb anti-Lepore and has HBB sequence at the 5-prime end and HBD sequence at the 3-prime end; see, for example, hemoglobin Lincoln Park ({141900.0157}). {12:Carver and Kutlar (1995)} listed 10 fusion hemoglobins that had been described by the beginning of 1995.\n\n{16:De Angioletti et al. (2002)} characterized mutations and haplotypes of the HBD gene in 2 regions of southern Italy. They screened approximately 10,000 students in Basilicata and found 53 carriers of HBD variants in 43 unrelated families; in Campania, patients were ascertained through a routine thalassemia counseling service. They found 6 novel mutations and stated that 46 HBD mutations had been previously characterized, of which 30 were from the Mediterranean area ({33:Huisman and Carver, 1998})." +142340,"Congenital diaphragmatic hernia (CDH) refers to a group of congenital defects in the structural integrity of the diaphragm which are often associated with lethal pulmonary hypoplasia and pulmonary hypertension. Prevalence in newborns ranges from 1 in 2,500 to 1 in 4,000, and there is a 30 to 60% mortality rate ({23:Langham et al., 1996}; {14:Harrison et al., 1994}; {26:Nobuhara et al., 1996}). Most cases of congenital diaphragmatic hernia are sporadic.\n\n<Subhead> Genetic Heterogeneity of Diaphragmatic Hernia\n\nCongenital diaphragmatic hernia-1 (DIH1) maps to chromosome 15q26; DIH2 ({222400}) maps to chromosome 8p23; and DIH3 ({610187}) is associated with mutation in the ZFPM2 gene ({603693}). There is evidence for further genetic heterogeneity, including a possible X-linked form ({306950}).\n\nCongenital diaphragmatic hernia can also present with other congenital anomalies. Fryns syndrome ({229850}) may be the most common autosomal recessive syndrome with DIH as a cardinal feature ({32:Slavotinek et al., 2005}).\n\nSee {15:Holder et al. (2007)} for a review of genetic factors in congenital diaphragmatic hernia. {30:Pober (2008)} reviewed genetic aspects of congenital diaphragmatic hernia, with emphasis on various syndromes in which CDH occurs along with other manifestations." +142350,"{4:Weimer (1949)} described a family in which at least 1 male in 4 successive generations had bilateral inguinal hernia. Autosomal dominance with sex influence was suggested. Familial hernia was reported also by {1:Edwards (1974)} and by {2:Simpson et al. (1974)}. {3:Smith and Sparkes (1968)} observed 2 brothers with atypical inguinal hernias of similar type and a strong family history of hernia. They reviewed evidence in man and animals supporting genetic causation. Hernia occurs, of course, in the Marfan ({154700}) and Ehlers-Danlos ({130000}) syndromes." +142395,"More than 2 billion people have been infected with the hepatitis B virus (HBV; see {610424}), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010})." +142400,"{3:Goodman et al. (1969)} observed 6 affected persons in 2 generations. Five of the 6 were female. This disorder is sometimes called congenital short esophagus ({4:Myles, 1939}) or partial thoracic stomach. {1:Carre and Froggatt (1970)} described 8 definite cases in 3 successive generations of a family. Others were equivocally affected. {5:Sidd et al. (1966)} observed a sliding hiatal hernia in 4 brothers, aged 42 to 44 years, 2 of whom were monozygotic twins.\n\n{2:Carre et al. (1999)} described a 5-generation family in which 23 of 38 individuals had a radiologically proven hiatus hernia. Age of onset of symptoms ranged from birth to 30 years. Clear evidence of male-to-male transmission pointed to an autosomal dominant mode of inheritance." +142470,"Fetal hemoglobin (HbF) levels vary considerably in healthy normal adults. The distribution of HbF and F cells, erythrocytes that contain measurable HbF, in healthy adults is continuous, although most adults have HbF of less than 0.6% of total Hb. Approximately 10 to 15% of individuals have increases of HbF ranging from 0.8% to 5%, a trait often referred to as hereditary persistence of fetal hemoglobin (HPFH), usually distributed unevenly among red cells. When coinherited with beta-thalassemia (see {613985}) or sickle cell anemia ({603903}), HPFH can increase HbF output to levels that are clinically beneficial ({8:Thein et al., 2007}).\n\nFor a general phenotypic description and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 ({141749})." +142500,"Asymmetry in the pigmentation of the irides probably occurs as an isolated phenomenon inherited as a dominant ({2:Calhoun, 1919}). Whether hereditary heterochromia iridis ever exists independent of Horner syndrome ({143000}), Waardenburg syndrome ({193500}), or the piebald trait ({172800}) is not clear. The melanocytes of the uveal trait constitute a branching pseudosyncytium richly innervated by sympathetic nerves. Pigmentation of the iris does not occur in the absence of this innervation. Sympathetic fibers leave the lateral horn of the gray matter of the first and second thoracic segments, pass out in the anterior roots, and join the lateral sympathetic chain via the white rami communicantes. They then proceed to the superior cervical ganglion and along the distribution of the carotid artery to the head. Congenital (or at least connatal) Horner syndrome with associated heterochromia iridis can be produced by birth injury to the lower roots of the brachial plexus (Klumpke palsy). {1:Byrne and Clough (1992)} discussed the occurrence of hypochromia iridis following acquired Horner syndrome in a 40-year-old man who had suffered brachial plexus trauma in a motorcycle accident 23 years earlier. Heterochromia iridis (singular) is the designation that the purist reserves for different pigmentation in sectors of 1 iris, whereas heterochromia iridum (plural) is the term used when the 2 irides are of different color.\n\n{4:Morrison et al. (2000)} examined 75 children with iris colobomata ({120200}). In 13 (17.3%) patients, noticeable iris heterochromia was present. In patients with unilateral coloboma, the heterochromia was characterized by the darker iris being the one affected with coloboma. In cases of bilateral iris colobomata with clinical microphthalmos and reduced corneal diameter, the variation in iris color was inconsistent. A fundus coloboma was not always present. The authors postulated that the iris coloboma-iris heterochromia association may result from the abnormal closure of the embryonic fissure, resulting in irregular or excessive migration of neural crest cells into the iris stroma. In addition, the high frequency of iris heterochromia-iris coloboma with microphthalmia suggests that an increased density of pigmented cells within the iris stroma may be a contributing factor." +142623,"The disorder described by {27:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid ({1:Amiel et al., 2008}). Total colonic aganglionosis and total intestinal HSCR also occur.\n\n<Subhead> Genetic Heterogeneity of Hirschsprung Disease\n\nSeveral additional loci for isolated Hirschsprung disease have been mapped. HSCR2 ({600155}) is associated with variation in the EDNRB gene ({131244}) on 13q22; HSCR3 ({613711}) is associated with variation in the GDNF gene ({600837}) on 5p13; HSCR4 ({613712}) is associated with variation in the EDN3 gene ({131242}) on 20q13; HSCR5 ({600156}) maps to 9q31; HSCR6 ({606874}) maps to 3p21; HSCR7 ({606875}) maps to 19q12; HSCR8 ({608462}) maps to 16q23; and HSCR9 ({611644}) maps to 4q31-q32.\n\nHSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome ({277580}), Mowat-Wilson syndrome ({235730}), Goldberg-Shprintzen syndrome ({609460}), and congenital central hypoventilation syndrome (CCHS; {209880}).\n\nWhereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by {1:Amiel et al., 2008})." +142669,"Beukes hip dysplasia is characterized by severe progressive degenerative osteoarthritis of the hip joint in early adulthood, with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. Symptoms of hip joint discomfort usually develop in infancy or later childhood, but may present as late as the fourth decade. Phenotypic expression is age-related and variable in severity; penetrance is incomplete and has been estimated to be 80%. The earliest primary radiographic features of BHD include bilateral shortening and broadening of the femoral neck, delayed appearance of the secondary ossification center, coxa vara, displacement of the femoral head in the acetabulum, and overgrowth of the greater trochanters. After onset of symptoms, the characteristic signs of osteoarthritis develop, including bone sclerosis, cyst formation, and narrowing of the joint space, with rapid deterioration of the joint (summary by {6:Watson et al., 2015})." +142680,"Familial periodic fever (FPF) is an autoinflammatory disorder characterized by recurrent fever with localized myalgia and painful erythema. Febrile attacks may last 1 or 2 days but often last longer than 1 week. Arthralgia of large joints, abdominal pain, conjunctivitis, and periorbital edema are common features. During attacks, painless cutaneous lesions may develop on the trunk or extremities and may migrate distally (review by {4:Drenth and van der Meer, 2001})." +142690,"Acne inversa, also known as hidradenitis suppurativa, is a chronic relapsing inflammatory skin disease characterized by recurrent draining sinuses and abscesses, predominantly in skin folds that carry terminal hairs and apocrine glands. Healing occurs with substantial scarring (summary by {8:Jansen et al., 2001}). Squamous cell carcinoma is a rare but potentially lethal complication that may develop in affected skin ({11:Nishimori et al., 2020}).\n\n{8:Jansen et al. (2001)} provided a detailed history and review of the disorder.\n\n<Subhead> Genetic Heterogeneity of Familial Acne Inversa\n\nFamilial acne inversa-2 with or without Dowling-Degos disease (ACNINV2; {613736}) is caused by mutation in the PSENEN gene ({607632}) on chromosome 19q13, and familial acne inversa-3 (ACNINV3; {613737}) is caused by mutation in the PSEN1 gene ({104311}) on chromosome 14q24." +142700,"Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by {12:Sollazzo et al., 2000}).\n\nAcetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis ({165720}) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by {7:Mabuchi et al., 2006}).\n\nCDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 ({16:Wynne-Davies, 1970}).\n\n<Subhead> Genetic Heterogeneity of Developmental Dysplasia of the Hip\n\nDevelopmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 ({615612}) maps to chromosome 3p21." +142730,"Four members of a family, father, daughter and 2 sons, presented with papulonodular eruptions, symmetric arthritis and ocular lesions. {2:Zayid and Farraj (1973)} described this condition as similar to, but distinct from, multicentric reticulohistiocytosis. The 4 affected family members showed multiple benign cutaneous histiocytic nodules on the face and limbs (no xanthelasmas or mucosal lesions were noted) and symmetric destructive seronegative rheumatoidlike polyarthritis. The father and 2 sons showed ocular lesions, including glaucoma, uveitis and cataracts. Histologically, skin lesions were described as 'granulomatous' with heavy, diffuse, chronic inflammatory infiltrate and increased vascularity, but no multinucleated giant cells were seen. Joint deformities were severe and response to steroid therapy was minimal. Onset was in early childhood for the sibs and in adolescence for the father. The similarities to and differences from dermochondrocorneal dystrophy of Francois ({221800}) should be noted. The disorder described in entry {186580} also has some similarities." +142770,"{1:Bias et al. (1974)} presented evidence for the existence of an unlinked gene which modifies HLA antigen expression. In a sibship of seven, 3 of 4 individuals who inherited the haplotype W29-W10 showed modified expression of W-10." +142830,"For background information on the major histocompatibility complex (MHC) and human leukocyte antigens (HLAs), see HLA-A ({142800})." +142858,"The DP (formerly SB) subregion of the HLA class II D region contains genes encoding the alpha ({142880}) and beta chains of a heterodimeric, cell-surface glycoprotein that presents antigens to CD4+ (helper) T lymphocytes. Because the HLA class II molecules are highly polymorphic, they can embrace a wide variety of antigens in their antigen-binding groove and present them to diverse T-lymphocyte antigen receptors, triggering antigen recognition. Amino acids located at key positions along the alpha-helical portions of these HLA heterodimers dictate which peptide antigens can bind. Even single amino acid substitutions in these regions may alter the shape of HLA-peptide binding pocket sufficiently to change its specificity." +142900,"Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by {17:Hurst et al., 1991})." +143000,"Horner syndrome, resulting from unilateral paralysis of the cervical sympathetics, comprises the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis. Iris heterochromia may also be present ({6:Takanashi et al., 2003})." +143020,"This entry is included in the database for historical reasons; the beta-related HpaI RFLP was the first to be discovered.\n\n{2:Kan and Dozy (1978)} used the HpaI restriction polymorphism (really the linkage principle) to make the prenatal diagnosis of sickle cell anemia. When 'normal' DNA is digested with HpaI, the beta-globin gene is contained in a fragment 7.6 kilobases long. In persons of African extraction two variants were detected, 7.0 kb and 13.0 kb long. These variants resulted from alteration in the normal HpaI recognition site 5000 nucleotides to the 3-prime side of the beta-globin gene. The 7.6 and 7.0 kb fragments were present in persons with Hb A, while 87% of persons with Hb S had the 13.0 kb variant. {4:Kurnit (1979)} questioned that sufficient time had elapsed for 13% of the sickle gene to become associated with the 'normal' 7.6 kb HpaI polymorphism through crossing-over. Consequently, he suggested the sickle cell variant may have had more than one origin in Africa. Several other possibilities, particularly a much earlier origin of the sickle gene, cannot be excluded, however. The method is sufficiently sensitive that the cells in 15 ml of uncultured amniotic fluid sufficed. To avoid the cumbersome term 'restriction fragment length polymorphism' used by {1:Botstein et al. (1980)}, {5:Nei and Tajima (1981)} suggested the term 'nucleon,' and for polymorphism therein the term 'nucleomorphs.' However, the term of {1:Botstein et al. (1980)}, with the acronym RFLP (sometimes pronounced 'rif-lip'), has achieved general usage. {7:Wilson (1984)} was critical of the Botstein term because length polymorphism occurs with deletions and insertions, i.e., is one class of mutation. He suggested simply 'restriction fragment polymorphism.'" +143050,"{2:Hunter et al. (1976)} concluded that humeroradial synostosis occurs as either a dominant or a recessive (see {236400}) malformation and also as part of the SC phocomelia syndrome ({269000}). Families with dominant inheritance were reported by {6:Romanus (1933)}, {1:Fuhrmann et al. (1966)} and {5:Mouchet and St. Pierre (1931)}.\n\n{3:Lenz and Rehmann (1976)} reported a remarkable kindred in which 12 of the 27 persons in 4 generations had bilateral humeroradial synostosis and the other 15 had ventral luxation of the radius. In addition, various degrees of malformations and aplasia of the carpal, tarsal and interphalangeal joints as well as shortening of the proximal phalanx of the thumbs were observed. The authors considered this to be a distinct syndrome.\n\nHumeral 'bifurcation' due to humeroradial synostosis, and amelia (see {601360}) are both very rare limb anomalies. {4:Marles et al. (2003)} described a Canadian Aboriginal boy with both of these limb deficiencies. The family history was unremarkable, but the proband had been exposed prenatally to cocaine at the time of limb development. His exposure was thought to be the likely cause." +143095,"Although patients with mutations in the CHST3 gene may initially be given varying diagnostic labels, they have similar clinical features, including dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture, and affected individuals may receive an initial clinical diagnosis of Larsen syndrome (see {245600}) or humerospinal dysostosis. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disc degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood; at this stage, the clinical features are those previously described as the Omani type of SED (summary by {14:Unger et al., 2010})." +143100,"Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. {371:Walker (2007)} provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models." +143200,"Wagner vitreoretinopathy is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described in a large Swiss pedigree ({21:Wagner, 1938}) and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an 'empty' vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome (summary by {12:Kloeckener-Gruissem et al., 2006}). Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated 'erosive vitreoretinopathy' (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner or erosive vitreoretinopathy (summary by {18:Mukhopadhyay et al., 2006})." +143400,"Congenital anomalies of the kidneys and urinary tract (CAKUT) encompasses a spectrum of developmental disorders of the urinary tract that can range from mild vesicoureteral reflux to severe renal agenesis. Other phenotypes include renal duplication, small kidneys, ureteropelvic junction obstruction, hydronephrosis, and renal dysplasia. These abnormalities can result in kidney damage, and possibly renal failure (summary by {19:Vivante et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CAKUT, see {610805}." +143460,{1:Ternaux et al. (1979)} found serum 5-hydroxytryptamine (5-HT) to be markedly decreased in Down syndrome whereas cerebrospinal fluid levels of 5-hydroxytryptamine and of 5-hydroxyindoleacetic acid were increased. It had generally been agreed that 5-HT is decreased in platelets in Down syndrome. Their measurements reflected this low platelet 5-HT. A gene on chromosome 21 that is important in the regulation of 5-HT metabolism may be indicated by these findings. +143860,"Isolated hyperchlorhidrosis is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by {4:Muhammad et al., 2011})." +143880,"Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by {8:Schlingmann et al., 2011}).\n\n<Subhead> Genetic Heterogeneity\n\nInfantile hypercalcemia-2 (HCINF2; {616963}) is caused by mutation in the SLC34A1 gene ({182309}) on chromosome 5q35." +143890,"Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous ({68:Hobbs et al., 1992}).\n\nThe FHCL1 phenotype can be modified by mutation in other genes. For example, in individuals with the LDLR mutation IVS14+1G-A ({606945.0063}), the phenotype can be altered by a SNP in the APOA2 gene ({107670.0002}), a SNP in the EPHX2 gene ({132811.0001}), or a SNP in the GHR gene ({600946.0028}).\n\n<Subhead> Genetic Heterogeneity of Familial Hypercholesterolemia\n\nOther forms of monogenic familial hypercholesterolemia include FHCL2 ({144010}), caused by mutation in the APOB gene ({107730}); FHCL3 ({603776}), caused by mutation in the PCSK9 gene ({607786}); and FHCL4 ({603813}), caused by mutation in the LDLRAP1 gene ({605747})." +144020,"{1:Hobbs et al. (1989)} described an unusual Puerto Rican kindred with familial hypercholesterolemia in which one-third of the relatives with a mutant LDLR gene point mutation, which changed ser156-to-leu in the LDL receptor ({606945.0004}), had normal plasma cholesterol concentrations. This substitution in the fourth repeat of the ligand-binding domain slowed the transport of the protein to the cell surface. The defective receptor could not bind LDL, which contains apoB-100, but it could bind beta-migrating VLDL, which contains apoE in addition to apoB-100. Although the mother was heterozygous for the mutation, her LDL-cholesterol concentration was consistently in the twenty-eighth percentile for the population. Through examination of genomic DNA, {1:Hobbs et al. (1989)} identified the mutant gene in heterozygous form in 17 of the mother's relatives, 5 of whom had normal LDL-cholesterol values. No male-to-male transmission was observed. The authors suggested that the pedigree was consistent with dominant transmission of a single gene that ameliorates or suppresses the hypercholesterolemic effect of the LDL receptor mutation. Through linkage analysis, they excluded the possibility that this suppressor gene was an allele at the LDLR locus. They also excluded the genes for the 2 ligands for the LDL receptor, APOB and APOE." +144100,"Gustatory sweating results from a disruption of the auriculotemporal nerve pathways. Damage to the nerve may cause a misdirected regrowth that results in parasympathetic innervation of sympathetic receptors and, therefore, facial sweating and flushing with gustatory stimulation (summary by {1:Dunbar et al., 2002})." +144110,"Hyperhidrosis palmaris et plantaris (HYPRPP) is characterized by excessive perspiration of the eccrine sweat gland in the palm, sole, and axilla. Perspiration in those affected may be aggravated by emotional stimuli (summary by {3:Higashimoto et al., 2006}).\n\n{5:Stolman (1998)} noted that hyperhidrosis may be complicated by skin maceration as well as secondary microbial infections, and that treatment modalities are associated with complications." +144120,"The hyper-IgG1(A1) syndrome entails a polyclonal selective increase of the serum levels of immunoglobulin G1 and to a lesser extent of IgA1. Malignancy, infectious or autoimmune diseases and environmental agents do not seem to be responsible. Affected adults have chronic fatigue, high erythrocyte sedimentation rates, and significant levels of various autoantibodies. {1:Hendriks et al. (1989)} studied a family with 4 affected females in 3 generations. All affected individuals carried a particular immunoglobulin heavy chain allele distinguished by RFLP analysis; that allele was not present in unaffected family members. A 32:1 chance for linkage of this rare haplotype with the hyper-IgG1 syndrome in the family was interpreted by {1:Hendriks et al. (1989)} as indicating a dominant regulator located at the IgH locus which has a selective influence on the production of IgG1 ({147100}) and IgA1 ({146900}). They pointed to the findings of {5:Oger et al. (1988)} that in vitro lymphocyte immunoglobulin production levels on pokeweed stimulation behaved as a dominant trait. {4:Krol-van Straaten et al. (1990)}, who like Hendriks and colleagues work in the Netherlands, questioned the existence of hyper-IgG1 syndrome as a separate entity. They stated that members of the family were known to their department and that one of them proved to have autoimmune hypothyroidism and a second delivered a baby with congenital heart block. They pointed to the report by {3:Kay et al. (1988)} of selectively increased polyclonal IgG1 levels associated with high titers of rheumatoid factors and antibodies to extractable nuclear antigens, notably SSA, in a subgroup of patients with connective tissue disease. See the reply by {2:Hendriks et al. (1990)}." +144150,"Hyperkeratosis lenticularis perstans (HLP) is a rare cutaneous disorder occurring in older persons and manifested by multiple benign pink to reddish-brown keratotic papules that primarily affect the extremities. The disorder was first described by {4:Flegel (1958)} (summary by {2:Bean, 1972})." +144190,"{1:Cantu et al. (1978)} reported a family in which 9 individuals in 3 consecutive generations (including an instance of male-to-male transmission) were affected by a 'new' syndrome characterized by hyperpigmented spots, mainly in skin areas exposed to sunlight, and mild palmoplantar papular hyperkeratosis. {2:Figuera et al. (1993)} described the same disorder in a 22-year-old female who was the youngest of a sibship of 7 and the only one affected. Her father was 42 at the time of her birth. De novo dominant mutation was proposed. She had sought medical assistance because of dark spots first noted at the age of 12 years." +144200,"Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles ({16:Hennies et al., 1995}). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles ({24:Lucker et al., 1994}). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis ({31:Stevens et al., 1996}). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK ({30:Risk et al., 1994}).\n\n<Subhead> Genetic Heterogeneity of Palmoplantar Keratoderma\n\nNonepidermolytic palmoplantar keratoderma (NEPPK; {600962}) is caused by mutation in the KRT1 gene. A focal form of NEPPK (FNEPPK1; {613000}) is caused by mutation in the KRT16 gene ({148067}). Another focal form, FNEPPK2 ({616400}), is caused by mutation in the TRPV3 gene ({607066}); mutation in TRPV3 can also cause Olmsted syndrome (OLMS; {614594}), a severe mutilating form of PPK. The diffuse Bothnian form of NEPPK (PPKB; {600231}) is caused by mutation in the AQP5 gene ({600442}). The Nagashima type of nonepidermolytic diffuse PPK (PPKN; {615598}) is caused by mutation in the SERPINB7 gene ({603357}).\n\nA generalized form of epidermolytic hyperkeratosis (EHK; {113800}), also designated bullous congenital ichthyosiform erythroderma (BCIE), is caused by mutation in the keratin genes KRT1 and KRT10 ({148080}).\n\nFor a discussion of punctate PPK, see {148600}; for a discussion of striate PPK, see {148700}." +144250,"Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B (APOB; {107730}). Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by {5:Bello-Chavolla et al., 2018}).\n\n{15:Goldstein et al. (1973)} gave the designation 'familial combined hyperlipidemia' to the most common genetic form of hyperlipidemia identified in a study of survivors of myocardial infarction. Affected persons characteristically showed elevation of both cholesterol and triglycerides in the blood. The combined disorder was shown to be distinct from familial hypercholesterolemia ({143890}) and from familial hypertriglyceridemia ({145750}) for the following reasons: (1) lipid distributions in relatives were unique; (2) unlike familial hypercholesterolemia, children of affected persons did not express hypercholesterolemia; and (3) informative matings suggested that variable expression of a single gene rather than segregation for 2 separate genes was responsible. This disorder leads to elevated levels of VLDL, LDL, or both in plasma. From time to time the pattern can change in a given person. Unlike familial hypercholesterolemia, hyperlipidemia appears in only 10 to 20% of patients in childhood, usually in the form of hypertriglyceridemia. Xanthomas are rare. Increased production of VLDL may be a common underlying metabolic characteristic in this disorder, which may be heterogeneous. The disorder may be 5 times as frequent as familial hypercholesterolemia, occurring in 1% of the U.S. population.\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Familial Combined Hyperlipidemia\n\nAlso see FCHL1 ({602491}), associated with variation in the USF1 gene ({191523}) on chromosome 1q23, and FCHL2 ({604499}), mapped to chromosome 11." +144300,{1:Raphael and Hyde (1970)} described the association of congenital deafness with type II hyperlipoproteinemia in mother and daughter. +144600,"On a regular diet patients with type IV hyperlipoproteinemia demonstrate increased plasma VLDL. Plasma triglycerides are persistently increased, while plasma cholesterol and phospholipids are usually within normal limits. Precocious atherosclerosis, abnormal glucose tolerance, and atheroeruptive xanthoma may occur. The disorder is undoubtedly heterogeneous and the phenotype strongly influenced by environmental factors, particularly carbohydrate and ethanol consumption." +144700,"The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities ({35:Kovacs et al., 1997}). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see {605074}) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma.\n\nRenal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by {54:Motzer et al., 1996}).\n\n<Subhead> Genetic Heterogeneity of Renal Cell Carcinoma\n\nGermline mutation resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type occurs in the HNF1A gene ({142410}) and the HNF1B gene ({189907}).\n\nSomatic mutations in renal cell carcinomas occur in the VHL gene ({608537}), the TRC8 gene ({603046}), the OGG1 gene ({601982}), the ARMET gene ({601916}), the FLCN gene ({607273}), and the BAP1 gene ({603089}).\n\nSee also RCCX1 ({300854}) for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene ({314310}).\n\nFor a discussion of papillary renal cell carcinoma, see RCCP1 ({605074}).\n\n<Subhead> Occurrence of Renal Cell Carcinoma in Other Disorders\n\nVon Hippel-Lindau syndrome ({193300}) is a familial multicancer syndrome in which there is a susceptibility to a variety of neoplasms, including renal cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma has been reported ({605839}). Medullary carcinoma of the kidney is believed to arise from the collecting ducts of the renal medulla and is associated with sickle cell trait ({603903}) ({35:Kovacs et al., 1997}). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome ({135150}).\n\n{3:Bertolotto et al. (2011)} identified a missense mutation in the MITF ({156845}) gene that increases the risk of renal cell carcinoma with or without malignant melanoma (CMM8; {614456})." +144750,"Autosomal dominant endosteal hyperostosis is a generalized bone dysplasia characterized by a cortical thickening of the long bones, with no alteration in external shape, and a remarkable resistance of the bone to fracture. The skeleton is normal in childhood. Facial metamorphoses occur in adolescence, as the forehead flattens, the mandible becomes elongated, and the gonial angle decreases. An enlarging osseous prominence (torus palatinus) develops in the hard palate, which may lead to malocclusion or loss of teeth (summary by {14:Van Wesenbeeck et al., 2003})." +144755,"Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII ({4:Waterval et al., 2010})." +144800,"In addition to thickening of the inner table of the frontal bone, obesity and hypertrichosis may be present. This condition affects mainly females. {2:Knies and Le Fever (1941)} reported mother and 3 children affected. Thus, the disorder may be dominant, but whether autosomal or X-linked is not known. {3:Lieberman (1967)} has observed 5 affected females in 3 generations. No case of male-to-male transmission is known. {7:Rosatti (1972)} described a family with 12 affected members (10 of them females) in 4 successive generations. {1:Gegick et al. (1973)} found elevated serum alkaline phosphatase levels in about half of patients. {6:Pawlikowski and Komorowski (1983)} found hyperostosis frontalis in 43% of women with galactorrhea as compared with a population frequency of 2.5%. (At least 2 other groups reported similar frequencies.) Since hyperprolactinemia was found in many of these cases, the authors suggested that this and other features of the syndrome such as hirsutism, diabetes, and menstrual troubles may be related to hyperprolactinemia." +145000,"Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by {28:Shibata et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Familial Hyperparathyroidism\n\nHyperparathyroidism-2 with jaw tumors (HRPT2; {145001}), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3; {610071}) has been mapped to chromosome 2p14-p13.3. HRPT4 ({617343}) is caused by mutation in the GCM2 gene ({603716}) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT; {239200}) is caused by mutation in the CASR gene ({601199}) on chromosome 3q.\n\nFamilial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, {131100}).\n\nFamilial hypocalciuric hypercalcemia (see {145980}) can be confused with familial primary hyperparathyroidism." +145001,"Hyperparathyroidism-jaw tumor syndrome is a rare autosomal dominant disorder characterized by synchronous or metachronous occurrence of primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer (summary by {16:Shibata et al., 2015}).\n\nFor a discussion of genetic heterogeneity of hyperparathyroidism, see HRPT1 ({145000})." +145100,{2:Hunziker (1962)} described a family in which 10 persons in 3 generations (in an autosomal dominant pattern) showed hyperpigmentation of the eyelids. {3:Peters (1918)} traced this trait through 5 generations. {1:Goodman and Belcher (1969)} described 2 kindreds with many affected members. +145200,"{1:Fuldauer and Kuijpers (1964)} described a pigmentary anomaly in many members of a Dutch family. Although the paper was entitled 'Incontinentia Pigmenti,' the distribution of the hyperpigmentation was quite different, being located on the wrists, hands, and neck and less consistently on the axillary folds, dorsa of the feet, and lines of the hands. Furthermore, incontinentia pigmenti is probably an X-linked dominant lethal in males. Many males were affected in this family." +145250,"Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by {11:Wang et al., 2009} and {1:Amyere et al., 2011}).\n\nAlso see familial progressive hyperpigmentation (FPH1; {614233})." +145260,"Pseudohypoaldosteronism type II (PHA2), also known as Gordon hyperkalemia-hypertension syndrome, is characterized by hyperkalemia despite normal renal glomerular filtration, hypertension, and correction of physiologic abnormalities by thiazide diuretics. Mild hyperchloremia, metabolic acidosis, and suppressed plasma renin ({179820}) activity are variable associated findings (summary by {12:Mansfield et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Pseudohypoaldosteronism Type II\n\nPHA2A has been mapped to chromosome 1q31-q42. PHA2B ({614491}) is caused by mutations in the WNK4 gene on chromosome 17q21 ({601844}). PHA2C ({614492}) is caused by mutations in the WNK1 gene on chromosome 12p13 ({605232}). PHA2D ({614495}) is caused by mutations in the KLHL3 gene ({605775}) on chromosome 5q31. PHA2E ({614496}) is caused by mutations in the CUL3 gene ({603136}) on chromosome 2q36.\n\n{1:Boyden et al. (2012)} observed that families with PHA type II due to mutation in the WNK1 gene (PHA2C) are significantly less severely affected than those with mutation in WNK4 (PHA2B) or dominant or recessive mutation in the KLHL3 gene (PHA2D), and all are less severely affected than those with dominant mutations in the CUL3 gene (PHA2E)." +145270,"{2:Ensinck and Palmer (1976)} and {3:Palmer et al. (1978)} studied a kindred in which 9 members had elevated amounts of high molecular weight forms of immunoreactive glucagon. They proposed that the material may be glucagon precursor(s) and that they are elevated because of an inherited defect in either their synthesis or their degradation. Several instances of male-to-male transmission were observed. No phenotypic peculiarities were associated. No further information is available and no similar families have been reported ({1:Ensinck, 1989}). The molecular defect may be in the glucagon gene ({138030})." +145290,"{1:Parke et al. (1984)} reported a family in which hyperreflexia appeared to be an autosomal dominant trait, perhaps linked to the Kell blood group locus ({110900}), which maps to chromosome 7q. A lod score of 1.806 at theta = 0.00 was obtained. The family was ascertained through 2 brothers with severe microcephaly, unusual retinal pigmentary anomalies, and average or low normal intelligence. The normal intelligence and the character of the retinal changes distinguished the disorder in the brothers from that described in entry {251270} (microcephaly with chorioretinopathy). The hyperreflexia was accompanied by ankle clonus but 'down-going toes' on Babinski test and no symptomatic neurologic dysfunction." +145295,"Some women with hirsutism and amenorrhea have an attenuated form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency ({201910}). This form, as in the classic form of congenital adrenal hyperplasia, is linked to HLA and has an autosomal recessive inheritance. Mild forms of 11-hydroxylase deficiency ({202010}) and of 3-beta-hydroxysteroid dehydrogenase deficiency ({201810}) also exist. {1:Lee et al. (1987)} described a family in which female members presented with premature pubarche, later with hirsutism and amenorrhea, and with evidence of functional adrenal hyperfunction but no evidence of enzyme deficiency. These findings were observed in the proband, her mother, the mother's twin sister, and her maternal great-grandmother. Basal levels of androgen in the first 3 were variably elevated. Neither the proband nor her mother or twin sister had the type of response seen in homozygotes, the attenuated form of congenital adrenal hyperplasia, when ACTH stimulation was tested. Glucocorticoid therapy suppressed adrenal androgen levels; in each of 2 otherwise amenorrheic women, conception occurred twice during such treatment. {1:Lee et al. (1987)} showed that the disorder is not linked to HLA and suggested that the condition was either autosomal or X-linked dominant." +145300,"From Australia, {1:Allen et al. (1975)} described 2 families in each of which the father had hypersensitivity pneumonitis due to exposure to avian antigens. Two sons in 1 family and 2 sons and a daughter in a second family were similarly affected. Both families kept pigeons and budgerigars. HLA typing to detect possible linkage to immune response gene(s) ({146880}) seemed inconclusive. The possibility that hexachlorobenzene, used by both families for eradication of mites, might have damaged the bronchial mucosa or acted as an immunologic adjuvant was considered." +145350,"Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is an autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy ({1:Ansar et al., 2020})." +145400,"Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome ({145410}), Greig cephalopolysyndactyly ({175700}), and Noonan syndrome ({163950}) (summary by {3:Cohen et al., 1995})." +145420,"Teebi hypertelorism syndrome-1 (TBHS1) is an autosomal dominant disorder characterized by hypertelorism with upslanting palpebral fissures, prominent forehead, broad and depressed nasal bridge with short nose, thick eyebrows, and widow's peak. Additional features include small broad hands with mild interdigital webbing and shawl scrotum. Umbilical malformations, cardiac defects, natal teeth, cleft lip/palate, congenital diaphragmatic hernia, and malformations of the central nervous system (ventriculomegaly, abnormal corpus callosum) have also been reported. Development is typically normal, although some patients with developmental delays have been reported (summary by {4:Bhoj et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Teebi Hypertelorism Syndrome\n\nTeebi hypertelorism syndrome-2 (TBHS2; {619736}) is caused by mutation in the CDH11 gene ({600023}) on chromosome 16q21." +145500,"The Pickering school held that blood pressure has a continuous distribution, that multiple genes and multiple environmental factors determine the level of one's blood pressure just as the determination of stature and intelligence is multifactorial, and that 'essential hypertension' is merely the upper end of the distribution ({66:Pickering, 1978}). In this view the person with essential hypertension is one who happens to inherit an aggregate of genes determining hypertension (and also is exposed to exogenous factors that favor hypertension). The Platt school took the view that essential hypertension is a simple mendelian dominant trait ({69:Platt, 1963}). {57:McDonough et al. (1964)} defended the monogenic idea. See {58:McKusick (1960)} and {52:Kurtz and Spence (1993)} for reviews. {78:Swales (1985)} reviewed the Platt-Pickering controversy as an 'episode in recent medical history.' The Pickering point of view appears to be more consistent with the observations." +145505,"Fatty acids are incorporated into membranes and signaling molecules and have roles in energy storage and metabolism. These essential functions require activation of the fatty acid by acyl-coenzyme A (CoA) synthetases, such as ACSM3, which form an activating thioester linkage between the fatty acid and CoA ({7:Watkins et al., 2007})." +145590,"{1:Farmer (1989)} described an unusual peculiarity in 3 generations of his own family. Although the 'disorder' was not life-threatening or seriously debilitating, it was a major annoyance. The informant, his mother, and a son (1 of his 5 children) experienced episodic increases in skin temperature associated with low or normal oral temperatures. The increased skin temperature was accompanied by severe headache, predominantly around the eyes, forehead and temples, and usually by nausea. The headache was aggravated by light. Vomiting often occurred late in the attack. The symptoms typically lasted for a few hours. Attacks often occurred when the subject was confined in a warm room with poor air circulation or was playing or sitting in the sun. The oldest affected member of the family, the grandmother, had onset at puberty and had not had attacks after hysterectomy at age 51. Her son first remembered symptoms at age 6, although the episodes became more frequent in his twenties. The grandson had onset at about age 5. Aspirin taken after the increase in skin temperature but before the onset of headache and nausea controlled the symptoms. Aspirin and caffeine partially relieved the symptoms after the headache had begun. The condition may be one of abnormal vasodilation at the skin surface leading to a higher skin temperature and lower internal temperature. Vasodilation may account for the headaches." +145600,"Susceptibility to malignant hyperthermia (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by {47:Monnier et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Malignant Hyperthermia\n\nOther MHS loci include MHS2 ({154275}) on chromosome 17q; MHS3 ({154276}) on chromosome 7q; MHS4 ({600467}) on chromosome 3q; MHS5 ({601887}), caused by mutation in the CACNA1S gene ({114208}) on chromosome 1q32; and MHS6 ({601888}) on chromosome 5p." +145650,"Selective pituitary resistance to thyroid hormone (PRTH) results in continued thyroid-stimulating hormone (TSH) production driving hypersecretion of T3 and T4 to establish a new equilibrium, with high serum levels of free thyroid hormones together with a nonsuppressed TSH. The presence of a variety of thyrotoxic features, including palpitations, anxiety, tremor, heat intolerance, insomnia, weight loss, and increased stool frequency, suggests that peripheral tissues are less refractory to thyroid hormones than the pituitary (summary by {1:Adams et al., 1994})." +145700,"Congenital hypertrichosis lanuginosa is a rare disorder characterized by excessive lanugo hair present at birth covering the entire body surface except the mucosae, palms, and soles (summary by {3:De Raeve and Keymolen, 2011})." +145701,"Hypertrichosis is defined as hair growth that is excessive for a particular site of the body or age of the patient and that is not hormone-dependent (summary by {8:Fantauzzo et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Congenital Generalized Hypertrichosis\n\nHTC1 has been mapped to chromosome 8q. HTC2 ({307150}) is caused by palindrome-mediated interchromosomal insertion at chromosome Xq27. HTC3 ({135400}), which can occur with or without associated gingival hyperplasia, is caused by deletion or duplication at chromosome 17q24 or by mutation in the ABCA5 gene ({612503}) on chromosome 17q24.\n\nAlso see lanugo-like generalized congenital hypertrichosis ({145700})." +145800,This condition must be distinguished from myotonia congenita and from the Debre-Semelaigne syndrome of congenital hypothyroidism. {1:Poch et al. (1971)} described a well-documented family with male-to-male transmission. Striking hypertrophy of the calf muscles and less constantly of the masseter muscles was found. +145900,"Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by {4:Baets et al., 2011})." +145980,"Familial hypocalciuric hypercalcemia (HHC) is a heritable disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. HHC is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone (PTH; {168450}) level. Hypermagnesemia is typically present. Individuals with HHC are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults (summary by {22:Hannan et al., 2010}).\n\nCharacteristic features of familial hypocalciuric hypercalcemia include mild to moderate hypercalcemia, nonsuppressed parathyroid hormone, relative hypocalciuria while hypercalcemic (calcium/creatinine clearance ratio less than 0.01, or 24-hr urine calcium less than 6.25 mmol), almost 100% penetrance of hypercalcemia from birth, absence of complications, persistence of hypercalcemia following subtotal parathyroidectomy, and normal parathyroid size, weight, and histology at surgery. However, atypical presentations with severe hypercalcemia, hypercalciuria with or without nephrolithiasis or nephrocalcinosis, kindreds with affected members displaying either hypercalciuria or hypocalciuria, postoperative normocalcemia, and pancreatitis have all been described in FHH ({57:Warner et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Hypocalciuric Hypercalcemia\n\nFamilial hypocalciuric hypercalcemia type II (HHC2; {145981}) is caused by mutation in the GNA11 gene ({139313}) on chromosome 19p13, and HHC3 ({600740}) is caused by mutation in the AP2S1 gene ({602242}) on chromosome 19q13." +145981,"Familial hypocalciuric hypercalcemia type II (HHC2) is an autosomal dominant disorder characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion and normal circulating parathyroid hormone concentrations in most patients. Patients are generally asymptomatic (summary by {4:Nesbit et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypocalciuric hypercalcemia, see HHC1 ({145980})." +146000,"Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and broad bones, and caudad narrowing of the interpediculate distance of the lumbar spine. It shows some resemblance to achondroplasia, but is much milder and can be distinguished on clinical and radiographic grounds ({22:Walker et al., 1971})." +146110,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {17:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}." +146160,"{1:Halal (1986)} described association of severe upper limb hypoplasia and mullerian duct anomalies. One or both were present in 2 males and 3 females in 3 generations. The limb anomalies varied from postaxial polydactyly to ectrodactyly to severe upper limb hypoplasia with split hand. In 1 woman, the mother of the proband, uterus didelphys (2 completely separate uterine cavities with 2 cervices) was demonstrated. Her mother also had 2 cervices. Another affected female had a vertical vaginal septum just behind an intact hymen that required hymenectomy. This appears to be distinct from other reported acrogenital syndromes." +146200,"{11:Garfield and Karaplis (2001)} reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH; {168450}) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels.\n\n<Subhead> Genetic Heterogeneity of Familial Isolated Hypoparathyroidism\n\nFIH2 ({618883}) is caused by mutation in the GCM2 gene ({603716}). An X-linked form of familial hypoparathyroidism, HYPX ({307700}), is caused by interstitial deletion/insertion on chromosome Xq27.1, which may have a position effect on expression of SOX3 ({313430}).\n\nCongenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, {188400}) is usually a sporadic condition ({22:Taitz et al., 1966})." +146255,"HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Variable clinical features include hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability ({1:Barakat et al., 2018})." +146450,"For a phenotypic description and a discussion of genetic heterogeneity of hypospadias, see {300633}." +146500,"Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions (GCIs) that consist of abnormally phosphorylated alpha-synuclein (SNCA; {163890}) or tau (MAPT; {157140}) ({5:Gilman et al., 1998}; {6:Gilman et al., 2008}; {17:Scholz et al., 2009}). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by {22:The Multiple-System Atrophy Research Collaboration, 2013}).\n\nMSA is similar clinically and pathologically to Parkinson disease (PD; {168600}) and Lewy body dementia ({127750}). See also PARK1 ({168601}), which is specifically caused by mutation in the SNCA gene.\n\nPure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear ({23:Vanderhaeghen et al., 1970}; {16:Schatz, 1996})." +146510,"Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations ({1:Biesecker et al., 1996})." +146520,"Hypotrichosis simplex can affect all body hair or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by {1:Betz et al., 2000}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}." +146550,"Hypotrichosis-4 (HYPT4), also known as Marie Unna hereditary hypotrichosis-1 (MUHH1), is an autosomal dominant form of hair loss characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth. Coarse, wiry hair begins to grow during childhood. Around puberty, progressive hair loss occurs in the affected patients. Although the disorder has the potential to affect all hair shafts, progressive and patterned alopecia of the scalp is the main manifestation of the disorder (summary by {10:Mansur et al., 2010}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}.\n\n<Subhead> Genetic Heterogeneity of Marie Unna Hereditary Hypotrichosis\n\nSee also MUHH2 (HYPT5; {612841}), caused by heterozygous mutation in the EPS8L3 gene (614989) on chromosome 1p13." +146580,"In cultured cells, {1:Caskey (1978)} found a class of HGPRT-negative mutations that are corrected by an autosomal suppressor mutation. This may be a tRNA mutation." +146590,"{1:Anton-Lamprecht (1978)} stated that 4 genetic disorders of keratinization were known to have a structural defect of tonofibrils. (1) In the harlequin fetus ({242500}), an abnormal x-ray diffraction pattern of the horn material points to a cross-beta-protein structure instead of the normal alpha-protein structure of keratin. (2) Bullous ichthyosiform erythroderma (EHK; {113800}) is characterized by an early formation of clumps and perinuclear shells due to an abnormal arrangement of tonofibrils. (3) In the Curth-Macklin form of ichthyosis hystrix, concentric unbroken shells of abnormal tonofilaments form around the nucleus. (4) In ichthyosis hystrix gravior ({146600}), only rudimentary tonofilaments are found with compensatory production of mucous granules." +146600,"{1:Anton-Lamprecht (1978)} stated that 4 genetic disorders of keratinization are known to have a structural defect of tonofibrils. (1) In the harlequin fetus ({242500}), an abnormal x-ray diffraction pattern of the horn material points to a cross-beta-protein structure instead of the normal alpha-protein structure of keratin. (2) Bullous ichthyosiform erythroderma (EHK; {113800}) is characterized by an early formation of clumps and perinuclear shells due to an abnormal arrangement of tonofibrils. (3) In the Curth-Macklin form of ichthyosis hystrix ({146590}), concentric unbroken shells of abnormal tonofilaments form around the nucleus. (4) In ichthyosis hystrix gravior, only rudimentary tonofilaments are found with compensatory production of mucous granules.\n\n{3:Goldsmith (1976)} used the designation of epidermolytic hyperkeratosis for the condition that is called bullous congenital ichthyosiform erythroderma (BCIE) when generalized and ichthyosis hystrix when localized." +146700,"The phenotypic characteristics of ichthyosis vulgaris include palmar hyperlinearity, keratosis pilaris, and a fine scale that is most prominent over the lower abdomen, arms, and legs. Marked presentation includes prominent scaling, whereas mild presentation consists of palmar hyperlinearity, keratosis pilaris, and, in some cases, fine scaling (summary by {13:Smith et al., 2006})." +146720,"{3:Sidransky et al. (1987)} reported a family in which persons in 4 generations showed a combination of ichthyosis vulgaris, prominent and full cheeks, sparse lateral eyebrows, and certain other craniofacial and musculoskeletal defects such as high-arched palate, kyphoscoliosis, anterior chest deformity, and pes planus. Autosomal dominant inheritance was suggested; there was no instance of male-to-male transmission. {2:Goodman et al. (1987)} called attention to the fact that the ICE acronym is used for the iridocorneal endothelial syndrome ({4:Yanoff, 1979}), a distinct disorder. {1:Begas and Delleman (1988)} begged that authors find another, less confusing name for the new syndrome." +146750,"Autosomal dominant lamellar ichthyosis (ADLI) is characterized by onset at birth or in the early neonatal period. Patients have large dark scales over the entire body, which are more prominent on the extremities, and palmoplantar keratoderma is present. Some patients experience mild erythema and/or moderate itching. Absence of sweating in severely affected areas has been reported ({1:Boyden et al., 2020}).\n\n{6:Traupe et al. (1984)} reported a large family of German descent (East Prussia) in which 5 individuals over 3 generations exhibited congenital lamellar ichthyosis that was evident at birth. The 8-year-old proband, her 27-year-old mother, and 52-year-old maternal grandfather exhibited large dark-brown scales over most of the body, including the palms and soles, with relative sparing of the face, anterior chest, and abdomen. The hyperkeratotic skin appeared lichenified on the back of the hands and feet as well as on the wrists, knees, and ankles. There was no history of erythema or blistering. The proband's teeth showed severe caries, but hair was normal. Her 13-month-old brother showed large translucent scales over the entire body, with relative sparing of the diaper area, especially the buttocks. He had 2 circumscribed erythematous patches on his legs, and experienced severe itching. The mother's deceased sister was also reported to have been affected. Histopathologic analysis of severely affected skin from the proband and her mother showed both orthokeratosis and parakeratosis, associated with a marked increase in the granular layer. The authors designated the disorder 'autosomal dominant lamellar ichthyosis (ADLI).'\n\n{2:Kolde et al. (1985)} described the ultrastructural characteristics of affected skin from the mother and daughter originally reported by {6:Traupe et al. (1984)}. There were slightly enlarged nuclei that sometimes showed prominent nucleoli, an increased number of mitochondria, and numerous free ribosomes in the cells of the malpighian layer. The widened granular layer also contained numerous mitochondria, and nucleated keratinocytes were found even in the uppermost transforming keratinocytes. {2:Kolde et al. (1985)} noted that in contrast to other ichthyoses, there was a prominent transformation zone between the stratum granulosum and corneum, consisting of up to 6 cell layers that reflected the structural and biochemical conversion of fully developed granular cells into horny cells. The authors suggested that ADLI might serve as a model for the study of cornification in humans.\n\n{7:Williams and Elias (1986)} concurred that the family described by {6:Traupe et al. (1984)} with affected members in 3 generations had an autosomal dominant form of 'lamellar' ichthyosis and mentioned a similar family of their own.\n\n{3:Larregue et al. (1986)} briefly described one 3-generation family and five 2-generation families with lamellar ichthyosis. The disorder was severe in these families and was accompanied by a collodion membrane at birth. {4:Melnik et al. (1989)} concluded that the pattern of lipids in the scales, as demonstrated by sequential high-performance thin-layer chromatography, differs from that of the erythrodermic and nonerythrodermic variants of autosomal recessive lamellar ichthyosis.\n\n{1:Boyden et al. (2020)} studied 13 patients in 4 families segregating autosomal dominant lamellar ichthyosis and mutations in the ASPRV1 gene, including the 3-generation German family (kindred 630) originally reported by {6:Traupe et al. (1984)}. The affected individuals exhibited a consistent phenotype, with all presenting at birth or within the first months of life with scaling involving the entire body, including the flexures, palms, and soles. None had collodion membrane. Scales were large and plate-like, and most prominent on the arms and legs. Erythema was absent or mild. Scaling improved, but did not completely resolve, during warmer weather. Affected individuals reported an inability to perspire when scaling was severe. Palmoplantar keratoderma was present, with prominent scaling and accentuation of creases. Some patients reported moderate itch. Histology showed acanthosis, compact orthohyperkeratosis, and a slightly expanded granular layer." +146800,"Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant congenital bullous ichthyosis without erythroderma. Blistering occurs in response to mild physical trauma and results in superficial erosion ('molting') of the outer skin, particularly on flexures, shins, and the periumbilical region. Keratin filament aggregates are seen by electron microscopy in the granular and upper spinous layers of the epidermis (summary by {2:McLean et al., 1994})." +146810,"{1:Chan et al. (1984)} studied immune response to 2 synthetic polypeptides: (Phe,G)-A--L, a branched copolymer of L-phenylalanine and L-glutamic acid coupled to D-L-alanine on a poly-L-lysine backbone and GAT, a random linear copolymer of glutamic acid, alanine and tyrosine in a ratio of 60:30:10. Among 92 unrelated subjects, 33% responded to (Phe,G)-A--L and 77% to GAT. No HLA association was found. Family studies showed that as in the IHG and ITG situation ({146950}, {146960}), 2 complementary immune response genes are required for response to each antigen. Study of linkage with HLA demonstrated maximum lod scores of +4.50 for IPHEG and +7.57 for IGAT at theta = 0.0. In an HLA-B/D recombinant family, IPHEG mapped toward the D region. Localization of IGAT close to HLA-B was provided by an HLA-A/B recombinant. Except for the matings in which the complementary genes are in repulsion, inheritance followed a mendelian dominant mode. The data were explained by 2 alleles at each locus: IPHEG-1 and-2; IGAT-1 and-2. In these as in the studies with IHG and ITG, prior in vivo immunization was not required for response. There appear to be two regions in the human MHC: one distal and one proximal to HLA-B." +146820,See Immune Response to Synthetic Polypeptide--IRPHEGAL ({146810}) and {1:Chan et al. (1984)}. +146830,"{2:Rosen and Bougas (1963)} reported the case of a woman with recurrent infection, marked elevation of 19S gamma globulin, and virtual absence of 7S. {1:Feldman et al. (1975)} found that 12 relatives had a variable immunodeficiency. Ten had elevation of IgM, combined with deficiency of IgG and IgA in 3 and deficiency of one or the other in 2. Five had only elevated IgM and 2 had normal IgM but deficiency of IgG and IgA. No male-to-male transmission was observed." +146850,"Immune suppression may be merely the 'other side of the coin' from immune response. {4:Sasazuki et al. (1980)} proposed linkage between HLA and a dominant gene at a locus Is (immune suppression), which suppresses in vitro lymphoproliferative response to streptococcal cell wall antigen. A lod score of +3.2 was observed in 7 families for linkage of the postulated locus with HLA. Although no recombinants were observed, pleiotropism was considered unlikely because no significant association between low responders and HLA specificities was found in the random population. The gene presumably controls the generation of suppressor T cells. The existence of such cells was demonstrated in man by {2:McMichael and Sasazuki (1977)}, using the mixed lymphocyte response (MLR) system; {1:Engleman et al. (1978)} demonstrated a soluble factor that can replace the suppressor T cell. {3:Nishimura and Sasazuki (1983)} further demonstrated that the gene controls the generation of the antigen-specific suppressor T cell." +146950,"Immune response genes were identified first in the mouse and later in other experimental species by in vivo experiments with synthetic polypeptide polymers ({1:Benacerraf and McDevitt, 1972}). {3:Hsu et al. (1981)} did the same sort of experiments in an in vitro system testing proliferative response in cultured lymphocytes. They observed response to HGAL in 63% of subjects; to TGAL in 54%. Family studies indicated independent (autosomal dominant) inheritance of responsiveness to the 2 antigens. Linkage to HLA was demonstrated. One family with an intra-HLA recombination demonstrated that the 2 immune response genes are closer to HLA-B than to HLA-D. The loci they demonstrated are presumably homologous to Ir-1 of the mouse. They postulated that a gene rearrangement took place leading to a different order of HLA and immune response genes in the mouse as contrasted with man, rhesus monkey, rat, guinea pig, and dog, which by their hypothesis are more similar to the prototypic arrangement. They demonstrated complementation by alleles at the 2 separate loci, IRHGAL and IRTGAL. Response to a single synthetic antigen requires complementation of at least 2 HLA-linked genes. A comparable complementation is observed in mice. Their data suggested that different combination of alleles at the complementing loci may determine particular levels of responsiveness. That the responses they observed were not primary responses but rather recall responses to epitopes on 'natural' antigens shared by the copolymers was indicated by the fact that no response was observed in cord blood lymphocytes from 12 newborns. In a later study of a family with an HLA-A/B recombinant, this group ({2:Bias, 1983}) concluded that IHG and ITG map distal to HLA-B, toward the HLA-A region. There appear to be 2 Ir regions within the MHC, one proximal and one distal to HLA-B." +146960,See immune response to synthetic polypeptide--IRHGAL ({146950}). +146990,"By in situ hybridization, {1:Chung et al. (1984)} demonstrated a DNA segment on 15q11-q12 that corresponded to the diversity region of the heavy chain gene(s) of immunoglobulin (see {146910}). The functional status of this locus is uncertain. This locus has the characteristics of a so-called orphon (see {147185}). Using YACs, {2:Nagaoka et al. (1994)} further studied the organization and origin of 3 orphon regions, V(h-f), D(5a) and D(5b), of the human immunoglobulin heavy-chain gene. The (h-f) segments and the D(5a) + D(5b) regions were mapped to chromosome bands 16p11 and 15q11-q12, respectively, by use of human/rodent somatic cell hybrids and fluorescence in situ hybridization. The variable(h-f) region consists of 7 variable segments and encompasses 160 bp of DNA. The diversity(5a) region contains 140 kb of only diversity segments, while the diversity(5b) region carries 3 variable segments downstream of diversity segments in 110 kb of DNA. Putative origins for these orphon heavy chain variable segments were found on chromosome 14. Comparison of the corresponding heavy chain variable regions suggests that a chromosome 14 DNA fragment of more than 100 kb was translocated simultaneously to chromosomes 15 and 16 approximately 20 million years ago." +147060,"Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Other more variable immunologic abnormalities include defective granulocyte chemotaxis, abnormalities in T-lymphocyte subgroups, impaired antibody production, and decreased production of or response to certain cytokines. Importantly, the same immune system defects are not found in all patients. Some patients may have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures ({9:Buckley et al., 1972}; {18:Grimbacher et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Hyper-IgE Recurrent Infection Syndrome\n\nSee also HIES2 ({243700}), caused by mutation in the DOCK8 gene ({611432}), HIES3 ({618282}), caused by mutation in the ZNF341 gene ({618269}), HIES4A ({619752}) and HIES4B ({618523}), both caused by mutation in the IL6ST gene ({600694}), and HIES5 ({618944}), caused by mutation in the IL6R gene ({147880})." +147080,"{3:Hsu et al. (1981)} and {1:Chan et al. (1984)} described HLA-linked immune response (Ir) genes that control in vitro lymphoproliferative responses to challenge by certain synthetic polypeptide antigens (see {146950}, {146960}, {146810}, {146820}). Without prior in vivo immunization, human peripheral blood lymphocytes proliferate vigorously when cultured for 7 days in the presence of antigen. Presumably, this is a secondary response resulting from exposure of the subject to similar epitopes in nature. While responsiveness in most families segregated as a mendelian dominant trait, some mating between nonresponders produced responder offspring, suggesting that, as in the mouse, responsiveness requires 2 complementary loci. The complementary genes were in coupling when inheritance was 'dominant;' they were in repulsion when inheritance was 'recessive.' {2:Chan et al. (1985)} conducted further studies with the terpolymer composed of L-glutamic acid, L-lysine and L-phenylalanine. Again they concluded that 2 separate complementary loci in the MHC region are involved. Several models were proposed to account for seeming inconsistencies in the mapping data." +147090,See {147080}. +147110,"Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see {147200}) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by an individual C region gene, that determines the isotype of the antibody and provides effector or signaling functions. The heavy chain V region is encoded by 1 each of 3 types of genes: V genes (see {147070}), joining (J) genes (see {147010}), and diversity (D) genes (see {146910}). The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. There are 5 main Ig classes, including IgG, which is the most abundant. Human IgG can be subdivided into 4 subclasses that are numbered in order of their abundance in serum, with IgG1 (see IGHG1, {147100}) being most abundant and IgG4 (see IGHG4, {147130}) being least abundant. The IGHG2 gene encodes the C region of the gamma-2 heavy chain, which defines the IgG2 isotype. Naive B cells express the transmembrane forms of IgM (see IGHM, {147020}) and IgD (see IGHD, {147170}) on their surface. During an antibody response, activated B cells can switch to the expression of individual downstream heavy chain C region genes, such as IGHG2, by a process of somatic recombination known as class switching. In addition, secreted Ig forms that act as antibodies can be produced by alternative RNA processing of the heavy chain C region sequences. The membrane forms of all Ig isotypes are monomeric, and all secreted IgG forms are also monomeric. IgG isotypes produced during an immune response are found in the bloodstream and in the extracellular spaces in tissues. Most IgG isotypes, including IgG2, can interact with complement component C1 (see {120550}) to activate the classical complement pathway (summary by {4:Murphy, 2012})." +147260,"Immunoglobulin class switching involves the transposition of an active V(H) gene from the initially expressed constant region gene C(mu) to one of the other C(H) genes. It is mediated by switch or S sequences, possibly through sister chromatid exchange ({1:Obata et al., 1981}). S sequences specific for each of the different C(H) genes have been described. They probably arose from an ancestral S sequence by duplication and divergence. {2:Stockinger et al. (1986)} studied sequences homologous to the S sequences but located remote from the immunoglobulin loci, i.e., immunoglobulin-independent switch sequences. These sequences were located on chromosome 1 and on chromosome 2 and/or 10. {2:Stockinger et al. (1986)} speculated that immunoglobulin-independent switch sequences may serve a function of increasing variability through recombinational means in other gene families." +147300,"Although a single major gene may be involved and this trait behaves as a simple dominant, data actually proving this are apparently not available." +147320,"{1:Okamoto et al. (1986)} reported a family in which 6 persons in 3 generations had exceedingly high insulin (INS; {176730}) binding to their erythrocytes (3- to 4-fold increase over the normal). Scatchard analysis showed that in each patient the increased insulin binding was due to increased binding capacity with little change in affinity. The pattern of inheritance was considered to be autosomal dominant although there was no instance of male-to-male transmission. Mononuclear leukocytes and erythrocyte ghosts also had high insulin binding. In contrast, the number of ouabain-binding sites and the kinetics of sugar transport were normal. The propositus was a 68-year-old man who had been recruited for a project to determine the normal range of insulin binding to erythrocytes. He was clinically normal and had no family or past history of either diabetes or hypoglycemia. There was no evidence of reduced red cell life span or a tendency to hemolysis; specifically, reticulocyte counts were normal. The latter feature was commented on because increased insulin binding had been reported in patients with hemolytic anemia. The authors referred to this as a 'familial disorder,' but in light of the clinical abnormality, it is difficult to justify calling this a disorder rather than a normal variation. Insulin tolerance tests and the euglycemic clamp study suggested that overall in vivo insulin sensitivity was normal in the propositus. Normal insulin sensitivity in the presence of very high insulin binding may indicate some post-binding peculiarity in the cells of the propositus. Indeed, the increased number of insulin receptors may be a secondary response to a variation at the post-receptor level." +147330,"{1:Kurtz and Brownstein (1974)} found absence of the permanent lower central incisors in a man and 2 of his 3 children, a son and a daughter. Dyslexia appeared to be segregating independently in the family. {3:Pitts (1923)} noted agenesis of the permanent lower central incisors in 4 male sons but no mention was made of the teeth of the parents. Absence of a single lower central incisor has been reported in 3 generations ({2:Miller, 1941})." +147350,'Wing teeth' is the term sometimes applied to bilateral mesiopalatal rotation of permanent upper central incisors. The trait is more frequent in Amerindians than in Caucasoids. Pedigree studies in Guatamala led {1:Escobar et al. (1976)} to conclude the trait is inherited as an autosomal dominant with 84% penetrance and variable expressivity. +147421,"Sporadic inclusion body myositis (IBM) is the most common age-related muscle disease in the elderly that results in severe disability. Although traditionally considered an inflammatory myopathy, it is now considered to be more consistent with a myodegenerative disease ({9:Sugarman et al., 2002}; {1:Askanas and Engel, 2006})." +147430,"Marsili syndrome (MARSIS) is an autosomal dominant pain insensitivity disorder characterized by a lowered ability to sense pain, to experience temperature, and to sweat. Affected individuals do not perceive broken bones and burns as painful, and have lowered sensitivity to capsaicin. However, visceral pain (e.g., childbirth-related) and light touch are perceived (summary by {4:Habib et al., 2018})." +147480,"Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by {10:Pasmant et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Intrahepatic Cholestasis of Pregnancy\n\nSee also ICP3 ({614972}), caused by mutation in the ABCB4 gene ({171060})." +147530,"{1:Comings and Amromin (1974)} described a kindred with affected persons in 4 generations. Electron microscopy of the sural nerves showed a unique abnormality of myelin which they termed hyperplastic myelinopathy. The unmyelinated C fibers were normal, whereas the medium-sized and large-sized myelinated fibers were involved, indicating the importance of the latter in pain sensation. Unlike congenital indifference to pain, in which the lesion is central (see {243000}), insensitivity to pain is characterized by inability to distinguish hot and cold, sharp and dull and by absence of flare on intradermal injection of histamine." +147540,"{1:Hecht (1971)} described a family, presumably his own, in which a male and 2 sons of his brother had exquisite sensitivity to insect stings. This is a situation of possible genetic sensitivity to an environmental insult, comparable to familial farmer's lung and pulmonary edema of mountaineers ({178400}), as well as to less esoteric and more clearly established examples such as favism, suxamethonium sensitivity, and malignant hyperpyrexia of anesthesia." +147560,{1:Chany et al. (1975)} proposed the existence on chromosome 16 of a depressor of the interferon induced antiviral state. +147610,"{1:Kafer (1977)} described dominantly inherited cleavage of the pigment layer of the iris and ciliary body in 3 generations: a grandfather, his daughter and his granddaughter. In the 2 elder persons luxation and rapidly progressive opacification of the lenses occurred, and after cataract extraction cleavage of the pigment layer of the ciliary body could also be seen through the iridectomy. The lenses had reduced sagittal and spherical diameters. A peculiar form of glaucoma and a peripheral retinal detachment were observed in the grandfather." +147630,"Insulinomatosis and diabetes mellitus syndrome is an autosomal dominant disorder in which affected individuals within a family present with either hyperinsulinemic hypoglycemia secondary to pancreatic neuroendocrine tumors, or a noninsulin-dependent form of diabetes mellitus. A few affected individuals show only impaired glucose tolerance. Some patients also exhibit congenital cataract and/or congenital glaucoma ({2:Iacovazzo et al., 2018})." +147660,Leukocyte interferon is produced predominantly by B lymphocytes. Immune interferon (IFN-gamma; {147570}) is produced by mitogen- or antigen-stimulated T lymphocytes. +147710,"The jejunal polyps of Peutz-Jeghers syndrome ({175200}) lead to intussusception. Idiopathic intussusception shows a modest degree of familial aggregation; see review of {1:Jolly et al. (1982)}, who reported a family in which 5 members in 3 generations had intussusception in infancy. A girl without intussusception developed malignant hyperthermia of a nonrigid type ({145600}). Her father and a sister had elevated levels of serum creatine kinase. Two older sibs died inexplicably following anesthesia for intussusception surgery and may have had malignant hyperthermia. {1:Jolly et al. (1982)} considered the coexistence of these 2 disorders in this family to be happenstance, although clearly each was hereditary." +147750,"IVIC syndrome (IVIC) is an autosomal dominant disorder characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral nonprogressive mixed hearing loss. More variable features include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation, and rectovaginal fistula (summary by {5:Paradisi and Arias, 2007})." +147791,"Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome with major clinical features of growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammertoes, and isoimmune thrombocytopenia ({6:Fryns et al., 1986}, {4:Epstein, 1986})." +147891,"Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by a/hypoplasia of the patellas and various anomalies of the pelvis and feet. Pelvic anomalies include bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus (summary by {1:Bongers et al., 2001}). Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS ({9:Kerstjens-Frederikse et al., 2013} and {11:Levy et al., 2016})." +147920,"Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy ({49:Niikawa et al., 1981}).\n\n<Subhead> Genetic Heterogeneity\n\nKabuki syndrome-2 ({300867}) is caused by mutation in the KDM6A gene ({300128}) on chromosome Xp11.3." +147950,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {34:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nAlthough HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction ({44:Sykiotis et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without Anosmia\n\nOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 ({244200}), caused by mutation in the PROKR2 gene ({607123}); HH4 ({610628}), caused by mutation in the PROK2 gene ({607002}); HH5 ({612370}), caused by mutation in the CHD7 gene ({608892}); HH6 ({612702}), caused by mutation in the FGF8 gene ({600483}); HH7 ({146110}), caused by mutation in the GNRHR gene ({138850}); HH8 ({614837}), caused by mutation in the KISS1R gene ({604161}); HH9 ({614838}), caused by mutation in the NELF gene ({608137}); HH10 ({614839}), caused by mutation in the TAC3 gene ({162330}); HH11 ({614840}), caused by mutation in the TACR3 gene ({162332}); HH12 ({614841}), caused by mutation in the GNRH1 gene ({152760}); HH13 ({614842}), caused by mutation in the KISS1 gene ({603286}); HH14 ({614858}), caused by mutation in the WDR11 gene ({606417}); HH15 ({614880}), caused by mutation in the HS6ST1 gene ({604846}); HH16 ({614897}), caused by mutation in the SEMA3A gene ({603961}); HH17 ({615266}), caused by mutation in the SPRY4 gene ({607984}); HH18 ({615267}), caused by mutation in the IL17RD gene ({606807}); HH19 ({615269}), caused by mutation in the DUSP6 gene ({602748}); HH20 ({615270}), caused by mutation in the FGF17 gene ({603725}); HH21 ({615271}), caused by mutation in the FLRT3 gene ({604808}); HH22 ({616030}), caused by mutation in the FEZF1 gene ({613301}); HH23 ({228300}), caused by mutation in the LHB gene ({152780}); HH24 ({229070}), caused by mutation in the FSHB gene ({136530}); HH25 ({618841}), caused by mutation in the NDNF gene ({616506}); and HH26 ({619718}), caused by mutation in the TCF12 gene.\n\nThere is also an X-linked form of the disorder (HH1; {308700}), caused by mutation in the KAL1 gene ({300836}).\n\nThere is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by {8:Chan, 2011}). {44:Sykiotis et al. (2010)}, for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.\n\n<Subhead> Reviews\n\n{49:Valdes-Socin et al. (2014)} reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.\n\n{54:Young et al. (2019)} reviewed the genetics, diagnosis, and clinical management of patients with congenital hypogonadotropic hypogonadism." +148000,"Kaposi sarcoma (KS) is an invasive angioproliferative inflammatory condition that occurs commonly in men infected with human immunodeficiency virus (HIV; see {609423}). In the early stages of KS, lesions appear reactive and are stimulated to grow by the actions of inflammatory cytokines and growth factors. In the late stages of KS, a malignant phenotype that appears to be monoclonal can develop. Infection with human herpesvirus-8 (HHV-8), also known as KS-associated herpesvirus (KSHV), is necessary but not sufficient for KS development. Coinfection with HIV markedly increases the likelihood of KS development, and additional environmental, hormonal, and genetic cofactors likely contribute to its pathogenesis (summary by {8:Foster et al., 2000}).\n\n{19:Suthaus et al. (2012)} noted that HHV-8 is the etiologic agent not only of KS, but also of primary effusion lymphoma and plasma cell-type multicentric Castleman disease (MCD)." +148050,"KBG syndrome is characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability (summary by {8:Sirmaci et al., 2011}). {8:Sirmaci et al. (2011)} noted that it is likely that KBG syndrome is underdiagnosed, since many of the features, including intellectual disability, are mild, and none of the features is a prerequisite for diagnosis." +148100,"Keloid is a dermal fibroproliferative growth caused by pathologic wound healing following skin injury. Keloid is defined as a scar growing continuously and invasively beyond the confines of the original wound and is characterized by excessive fibroblast proliferation and deposition of extracellular matrix and collagen fibers. Local tissue factors, especially wound tension or infection, and endocrine factors are known to be involved in keloid formation. However, the fact that the incidence of keloid is higher in darker-skinned individuals suggests that genetic factors also play an important role (summary by {6:Nakashima et al., 2010})." +148190,"Keratitis is a rare ocular disorder presenting with congenital and progressive features predominantly involving the anterior segment of the eye. The major clinical symptoms are anterior stromal corneal opacification and vascularization of the peripheral cornea. Progression of the opacification and vascularization into the central cornea may occur with corresponding reduction in visual acuity. Other anterior segment features include variable radial defects of the iris stroma and foveal hypoplasia (summary by {4:Mirzayans et al., 1995})." +148200,"Keratoendotheliitis fugax hereditaria is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients. The disease is characterized by episodes of unilateral ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1 to 2 days, but vision remains blurry for several weeks. Onset occurs between ages 3 and 12 years, and may involve either eye. Episodes generally decrease in frequency and become more mild with age (summary by {2:Turunen et al., 2018})." +148210,"Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by sensorineural hearing loss, photophobia and corneal vascularization, hyperkeratosis of the palms and soles, erythrokeratoderma, follicular hyperkeratosis, and recurrent bacterial and fungal infections. A subset of patients with KID may develop multiple cystic pilar tumors, which are prone to malignant transformation and metastasis ({13:Nyquist et al., 2007}).\n\nVohwinkel syndrome ({124500}) is an allelic disorder involving congenital deafness with keratopachydermia and constrictions of fingers and toes. Another similar disorder caused by mutation in GJB2 is palmoplantar keratoderma with deafness ({148350}).\n\n<Subhead> Genetic Heterogeneity of Keratitis-Ichthyosis-Deafness Syndrome\n\nAn autosomal recessive form of KID syndrome (KIDAR; {242150}) is caused by mutation in the AP1B1 gene ({600157}) on chromosome 22q12." +148300,"Keratoconus, the most common corneal dystrophy, is a bilateral, noninflammatory progressive corneal ectasia. Clinically, the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. The disease usually arises in the teenage years, eventually stabilizing in the third and fourth decades. The incidence of keratoconus is 1 in 2,000 in the general population; it occurs with no ethnic or gender preponderance, and causes significant visual impairment in young adults. No specific treatment exists except to replace the corneal tissue by surgery (corneal transplantation) when visual acuity can no longer be corrected by contact lenses (summary by {5:Dash et al., 2006}).\n\n{15:Ihalainen (1986)} reviewed various conditions with which keratoconus is at times associated. Keratoconus is frequent in cases of amaurosis congenita of Leber ({204000}).\n\n<Subhead> Genetic Heterogeneity of Keratoconus\n\nAlso see KTCN2 ({608932}), mapped to 16q22.3-q23.1; KTCN3 ({608586}), mapped to 3p14-q13; KTCN4 ({609271}), mapped to 2p24; KTCN5 ({614622}), mapped to 5q14.1-q21.3; KTCN6 ({614623}), mapped to 9q34; KTCN7 ({614629}), mapped to 13q32; KTCN8 ({614628}), mapped to 14q24; and KTCN9 ({617928}), caused by mutation in the TUBA3D gene ({617878}) on 2q21." +148360,"{3:Tolmie et al. (1988)} described a syndrome of palmoplantar keratoderma, dystrophy of the fingernails, and hereditary motor and sensory neuropathy in 10 members of 4 generations. The nail dystrophy affected both the toenails and the fingernails; it was present at birth or developed during early childhood. Palmoplantar keratoderma became apparent in later childhood. Each subject with nail dystrophy and keratoderma also had clinical or electrophysiologic evidence of axonal neuropathy. The clinical signs were as mild as moderately severe pes cavus, with no symptoms attributable to neuropathy, in a 60-year-old patient, the oldest affected in the pedigree. The combination of palmoplantar keratoderma and Charcot-Marie-Tooth disease was reported in an Italian family by {2:Rabbiosi et al. (1980)}. The clinical and electrophysiologic findings were thought to indicate an axonal neuropathy. However, nail dystrophy was not noted in that report, whereas it was a constant finding in the affected subjects reported by {3:Tolmie et al. (1988)}. See {309560} for a possibly X-linked disorder combining keratoderma, spastic paraplegia, and nail dystrophy. {1:Powell et al. (1983)} described autosomal dominant inheritance of a distinctive keratoderma with spastic paraplegia. Nail dystrophy was not noted. Both the palmoplantar keratodermas and the hereditary and motor sensory neuropathies show extensive genetic heterogeneity. The syndrome reported by {3:Tolmie et al. (1988)} is another example of this heterogeneity." +148370,"Keratolytic winter erythema, also known as Oudtshoorn skin disease, manifests during childhood with recurrent episodes of palmoplantar erythema and centrifugal epidermal peeling. Lateral and dorsal aspects of the hands and feet can be involved. A less common finding is a slowly migratory, annular erythema that is seen mostly on the extremities. Between flares, the skin may appear unremarkable. Hyperhidrosis, associated with a pungent odor, is invariably present, and itching can occur. Peeling is preceded by the formation of dry blisters due to keratolysis, whereas formation of vesicles or bullae is rare. Cold weather, moisture, febrile diseases, and physical and mental stress can trigger exacerbations. In severely affected individuals, skin manifestations persist unremittingly. Penetrance of the disease is high, but expressivity is variable, even within the same family (summary by {7:Ngcungcu et al., 2017})." +148390,"{1:Atherton et al. (1989)} described a family with cutaneous pigmented keratoses in sun-exposed sites and later development of internal malignancies, particularly carcinoma of the uterus. Affected persons were not clinically photosensitive, but fibroblasts showed gross cytopathic changes, low survival indices, and an increased frequency of DNA single-strand breaks following exposure to long-wave ultraviolet radiation. Seemingly, only females were affected over 5 generations of the family. Striking changes on the face and hands were illustrated. Possible relationship to the form of autosomal dominant xeroderma pigmentosum discussed in {194400} is worthy of consideration." +148500,"Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles ({12:Lucker et al., 1994}).\n\nFor a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK ({144200})." +148520,{1:Aguirre-Negrete et al. (1981)} and {3:Hernandez et al. (1982)} reported Mexican families with keratosis of the palms and soles in combination with radial curvature of the fifth finger. A family with 'tylosis' and clinodactyly was reported by {2:Anderson and Klintworth (1961)} also. +148600,"Punctate palmoplantar keratoderma type I, also called keratosis punctate palmoplantaris type Buschke-Fisher-Brauer, is a rare autosomal dominant hereditary skin disease characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. There have been reports of an association between PPKP and the development of early- and late-onset malignancies, including squamous cell carcinoma (summary by {2:Giehl et al., 2012}).\n\nAnother form of PPKP type I has been mapped to chromosome 8q24 (PPKP1B; {614936}).\n\nOther forms of punctate palmoplantar keratoderma include a porokeratotic type (PPKP2; {175860}) and focal acrohyperkeratosis (PPKP3; {101850}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK ({144200})." +148700,"Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by {6:Hunt et al., 2001}). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported ({7:Keren et al., 2005}; {8:Milingou et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Keratosis Palmoplantaris Striata\n\nType II PPKS (PPKS2; {612908}) is caused by mutation in the DSP gene ({125647}) on chromosome 6.\n\nType III PPKS (PPKS3; {607654}) is caused by mutation in the keratin-1 gene (KRT1; {139350}) on chromosome 12q.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK ({144200}).\n\n{9:Nitoiu et al. (2014)} reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSG1 and DSP genes." +148730,"{2:Gorlin (1976)} described an autosomal dominant syndrome, which he termed 'focal palmoplantar and marginal gingival hyperkeratosis,' in which there is hyperkeratosis of the soles that is most marked over the weight-bearing areas and hyperkeratosis of the palms that he suggested might be trauma-related. There is hyperhidrosis of the hyperkeratotic areas, the latter appearing around puberty in most patients, although early changes may be noted in childhood. Hyperkeratosis involving the labial- and lingual-attached gingiva is also seen. Occurrence through several generations with male-to-male transmission was observed by {1:Fred et al. (1964)}, {5:Raphael et al. (1968)}, {3:James and Beggs (1973)}, and {2:Gorlin (1976)}.\n\n{4:Laskaris et al. (1980)} reported a family and showed that other (nonmarginal) areas of the oral mucosa are affected. The most marked hyperkeratosis occurred on the weight-bearing areas of the soles and the pressure-related areas of the palms. Changes appeared in early childhood and progressed. Male-to-male transmission was observed. {4:Laskaris et al. (1980)} reviewed other reports and the differential diagnosis.\n\n{6:Young et al. (1982)} reported a father and daughter who developed thickened, painful soles at 18 and 13 years of age, respectively. Hyperkeratosis of the hands was limited to the fingertips in the daughter; the father had mild thickening of the fingertips and moderate calluses on the palmar surfaces. Both had follicular keratosis, particularly of the sebaceous areas of the face, and hair and nails were normal except for thickening of the 2 outermost toenails in the daughter. The father had well-defined, finely papillated, painless leukokeratosis in the regions of the attached gingiva and hard palate with sparing of the free gingiva, whereas the daughter had mild leukokeratosis on the masticatory and superior lingual mucosae with white patches on the retromolar pads. Her 2 brothers, aged 11 and 12, had follicular keratosis of the sebaceous areas of the face and slight whitening of the mucosa of the retromolar pads but no palmar or plantar hyperkeratosis. Previously unreported paranuclear bodies were identified in the keratinocytes of the spinous and granular cell layers of the finely papillated gingival epithelium of the father; similar paranuclear bodies were found in cytologic smears from the 3 other affected family members. By electron microscopy and histochemistry, {6:Young et al. (1982)} characterized the paranuclear bodies as condensations of tonofilaments, and suggested that they might be useful in early diagnosis of this disorder. {6:Young et al. (1982)} noted that whereas the patients described by {2:Gorlin (1976)} had distinctly focal, discrete calluses on weight- and friction-bearing points of the hands and feet, this family had broad-based calluses of the whole sole, which were identical to those of the patient reported by {5:Raphael et al. (1968)}." +148800,"Cloverleaf skull, or Kleeblattschaedel, consists of a trilobular skull with craniosynostosis. The condition shows pathogenetic variability and etiologic heterogeneity. The cause of isolated cloverleaf skull is unknown ({4:Cohen, 2009}).\n\n{3:Cohen (1975)} pointed out that Kleeblattschaedel is a component of many syndromes, e.g., it is found in some cases of Crouzon syndrome ({123500}), Pfeiffer syndrome ({101600}), and Carpenter syndrome ({201000}).\n\n{4:Cohen (2009)} listed 12 monogenic disorders with cloverleaf skull as a feature, including type II thanatophoric dysplasia ({187601}), which accounts for 40% of all cloverleaf skull syndromes. {4:Cohen (2009)} published photographs of cloverleaf skull in various syndromes." +148820,"Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by {16:Read and Newton, 1997} and {15:Pingault et al., 2010}). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' ({5:Gorlin et al., 1976}).\n\n<Subhead> Clinical Variability of Waardenburg Syndrome Types 1-4\n\nWaardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; {193500}) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; {277580}), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by {16:Read and Newton, 1997} and {15:Pingault et al., 2010})." +148840,"The Kleine-Levin hibernation syndrome, a rare disorder that occurs predominantly in males, is characterized by episodic attacks of aberrant behavior, hypersomnia, and increased feeding (megaphagia) and sex drives ({9:Kleine, 1925}; {10:Levin, 1929})." +149100,{4:Skoog (1948)} defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.' +149200,"Bart-Pumphrey syndrome (BAPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability (summary by {5:Richard et al., 2004})." +149300,"Koilonychia, or 'spoon nails,' is a relatively uncommon disorder in which the nails are abnormally thin and concave from side to side, with the edges turned up. Single or multiple fingers and/or toes may be involved (summary by {2:Bumpers and Bishop, 1980}). Koilonychia is referred to here as nonsyndromic congenital nail disorder-2 (NDNC2).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050})." +149400,"Hyperekplexia is an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli. Affected individuals have brief episodes of intense, generalized hypertonia in response to stimulation. Neonates may have prolonged periods of rigidity and are at risk for sudden death from apnea or aspiration. Many affected infants have inguinal hernias. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks (summary by {17:Ryan et al., 1992}).\n\n<Subhead> Genetic Heterogeneity of Hyperekplexia\n\nSee also HKPX2 ({614619}), caused by mutation in the GLRB gene ({138492}) on chromosome 4q31; HKPX3 ({614618}), caused by mutation in the GLYT2 gene (SLC6A5; {604159}) on chromosome 11p15; and HKPX4 ({618011}), caused by mutation in the ATAD1 gene ({614452}) on chromosome 10q23.\n\nHyperekplexia can also occur in developmental and epileptic encephalopathy-8 (DEE8; {300607}), caused by mutation in the ARHGEF9 gene ({300429}).\n\nSee also sporadic stiff-man syndrome ({184850}) and the 'Jumping Frenchmen of Maine' ({244100})." +149500,"Kyrle disease is a follicular keratosis. The horny papules may be situated anywhere except the palms, soles and mucous membranes. They eventually acquire a central keratotic plug that upon removal leaves a crater that matches the shape of the plug (Kyrle sign). The lesions come in crops, last several weeks, and eventually disappear with minimal or no scarring. The histologic appearance is responsible for the Latin name 'hyperkeratosis follicularis et parafollicularis in cutem penetrans.' The perforating character of the lesions is reminiscent of elastosis perforans. {1:Tessler et al. (1973)} described a family with dominant inheritance but no instance of male-to-male transmission. Posterior subcapsular cataracts were present in 3 young adults with the skin disease." +149600,{1:Barbosa Sueiro and Piloto (1964)} reported 5 cases occurring in 4 generations of a family. +149700,"Congenital nasolacrimal drainage system impatency is relatively common, occurring in approximately 20% of children within the first year of life. Such infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway such as conjunctivitis. The most frequent site of such obstruction occurs at the distal intranasal segment of the nasolacrimal drainage system at the valve of Hasner (summary by {8:Wang and Cunningham, 2011}).\n\nCongenital dacryocystocele, an uncommon variant of nasolacrimal duct obstruction, characterized by the appearance of a cystic blue mass over the area of the lacrimal duct soon after birth. Dacryocystoceles are thought to result from a persistent membrane at the valve of Hasner and a functional obstruction of the common canaliculus or valve of Rosenmuller. The resulting lacrimal sac distention has been reported to be more common in female and non-Hispanic white patients, and familial cases have been described only sporadically. Common presenting signs include dacryocystitis, facial cellulitis, and respiratory distress; the development of astigmatism in association with dacryocystocele has only rarely been observed (summary by {6:Shekunov et al., 2010})." +149730,"Lacrimoauriculodentodigital syndrome is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by {9:Rohmann et al., 2006})." +150170,"{1:Sussman et al. (1970)} described a 28-year-old woman with chronically elevated lactic and pyruvic acids and increased lactate-to-pyruvate ratio. Alcohol ingestion and moderate exercise increased lactate levels. As in glycogen storage disease, hyperuricemia was present and uric acid clearance was apparently depressed. The mother and 3 of the mother's sibs also showed abnormal lactate response to the combination of alcohol ingestion and exercise." +150230,"Trichorhinophalangeal syndrome type II (TRPS2), or Langer-Giedion syndrome (LGS), is a contiguous gene deletion syndrome characterized by cone-shaped epiphyses, multiple cartilaginous exostoses, and facial dysmorphism including bulbous nose, elongated upper lip with flat philtrum, and large protruding ears. Scalp hair is usually sparse, with thin and brittle hair shafts. Intellectual development is mildly to moderately impaired. Seizures have occasionally been reported. Other skeletal or orthopedic, urogenital, and endocrine anomalies may be present (summary by {38:Schinzel et al., 2013})." +150250,"Larsen syndrome is an osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication (summary by {2:Bicknell et al., 2007})." +150260,"Laryngeal abductor paralysis is an autosomal dominant condition characterized by variable penetrance and expressivity ranging from mild symptoms to neonatal asphyxia. (summary by {7:Morelli et al., 1982}; {5:Manaligod and Smith, 1998})." +150280,"{2:Shulman et al. (1976)} described a Mexican-American family in which 3 of 5 sibs had severe laryngomalacia requiring neonatal tracheostomy. Histologic studies of tracheal cartilage showed hypercellularity and tinctorial peculiarities of the matrix. The mother had experienced respiratory difficulties in the first year of life. Thus inheritance may be dominant. In diastrophic dwarfism ({222600}) tracheomalacia and laryngomalacia with respiratory distress occur. {1:Shohat et al. (1992)} described a family in which laryngomalacia evidenced by congenital stridor was present in 9 persons in 3 generations, supporting autosomal dominant inheritance. There was no instance of male-to-male transmission, however, and a mating in the second generation was consanguineous." +150300,"{1:Baker and Savetsky (1966)} described affected mother and 2 children. The mother had been reported by {5:O'Kane (1936)}. Tracheostomy was performed within minutes after birth because of laryngeal obstruction. The patient developed a satisfactory voice despite a larynx of infantile size and despite a permanent tracheostomy. She graduated from college, married and had 2 children, a son and a daughter, both of whom required tracheostomy soon after birth. {3:Lewandowski and Yunis (1977)} suggested that a locus on the short arm of chromosome 5 may be responsible for this disorder, as indicated by the characteristic cri-du-chat 5p deletion. They studied a family in which 3 members had the cri du chat syndrome ({123450}) with deletion only of the distal half of the light band 5p15.\n\nAs patients with the cri-du-chat syndrome age, about 30% of them develop gray hair prematurely ({4:Niebuhr, 1971}). Premature graying has not been commented on with any of the congenital disorders leading to laryngeal stenosis. The separateness from laryngomalacia ({150280}) is likely but not certain. Posterior laryngeal cleft ({215800}) may also be mendelian. {6:Overhauser et al. (1994)} concluded that a critical chromosomal region involved in the high-pitched cry of the cat cry syndrome is 5p15.3, while the chromosomal region involved in the remaining features of the syndrome is a small region within 5p15.2." +150360,"Congenital laryngeal (glottic) webs are uncommon, membrane-like structures that extend across the laryngeal lumen near the level of the vocal cords. They are thought to result from incomplete resorption of an epithelial layer that normally obliterates the developing laryngeal opening at about the sixth week of embryologic life. This layer is usually completely eliminated by the tenth week. Most laryngeal webs occur at the glottic level and affect the vocal cords. More than 90% are located anteriorly and extend toward the arytenoids. While affected persons may have onset of manifestations at any age, with hoarse or weak voice and frequent upper respiratory infections, they usually manifest the condition as infants, with respiratory distress, stridor, and an unusual cry ({10:Strakowski et al., 1988}; {8:Singh et al., 2009})." +150500,Lattice degeneration of the retina with later development of retinal detachment in many nonmyopic persons was observed by {1:Everett (1968)}. The familial occurrence of lattice degeneration in nonmyopes was earlier reported by {2:Gartner (1960)}. +150550,"Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) is an autosomal recessive immunologic disorder with variable manifestations. Common features include early-onset recurrent respiratory infections, stomatitis, and cutaneous infections. Organisms usually include bacteria such as pneumococcus, Staphylococcus, and H. influenzae, but severe viral infections, including varicella, may also occur. Laboratory investigations may show neutropenia, neutrophilia, leukocytosis, or lymphopenia, although levels of immune cells may also be normal. Detailed studies often show impaired neutrophil chemotaxis associated with increased or abnormal F-actin levels, and impaired, normal, or even increased oxidative burst, depending on the stimulus. B- and T-cell abnormalities have also been observed. Some patients develop autoimmune manifestations, including chronic thrombocytopenia, anemia, and periodic fevers, associated with activation of the inflammasome. Early death may occur; however, hematopoietic stem cell transplantation may be curative (summary by {4:Kuhns et al., 2016}, {11:Standing et al., 2017}, and {9:Pfajfer et al., 2018})." +150600,"Legg-Calve-Perthes disease is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by {2:Chen et al., 2004})." +150699,"Uterine leiomyoma (UL), commonly known as fibroids, are benign tumors of the uterine myometrium. They represent the most prevalent pelvic tumors in women and are found in more than 75% of women of reproductive age. Approximately 20 to 25% of women with UL exhibit symptoms including menorrhagia, infertility, pelvic pain, and a range of complications during pregnancy. UL are the leading cause for hysterectomy in the United States, accounting for 30% of all hysterectomies (summary by {2:Eggert et al., 2012})." +150800,"Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by {6:Gardie et al., 2011}; {19:Smit et al., 2011}; and {12:Lehtonen, 2011}).\n\nFor a general discussion of papillary renal cell carcinoma, see RCCP1 ({605074})." +150900,{1:Pipkin and Pipkin (1950)} observed 8 cases in 3 generations of a Maltese-Lebanese family. Six of the affected had nystagmus. +151000,"{3:Touraine (1955)}, who first described this condition ({2:Touraine, 1941}), discovered a total of 32 cases in 17 families examined. In 9 of the families, a parent and 1 or more children were affected. In 5 families with a total of 15 cases, only 2 or more sibs were affected. He quoted an instance of affected mother and 4 children. Mental retardation was frequently associated. In a series of 40 reported cases reviewed by {1:Dociu et al. (1976)}, no lentigines were found other than those on the face." +151001,"{1:O'Neill and James (1989)} described autosomal dominant transmission of a pigmentary pattern characterized by facial, lip, extremity, buttock, and palmoplantar small, discrete hyperpigmented macules. None of the patients had lesions of the oral mucosa or internal organ system abnormalities. Thus, the disorder could be distinguished from the Peutz-Jeghers syndrome ({175200}), the centrofacial lentiginosis syndrome ({151000}), the Carney syndrome ({160980}) and the LEOPARD syndrome ({151100}), all of which have associated internal abnormalities. Although all the patients were of African extraction, it is unlikely that this trait occurs only in blacks. The pedigrees of 2 families showed extensive multigeneration involvement with numerous instances of male-to-male transmission.\n\n{2:Xing et al. (2005)} reported a 4-generation Chinese family transmitting generalized lentiginosis as an autosomal dominant trait. Affected individuals had small brown macules on the face, extremities, and trunk, particularly noticeable on sun-exposed areas. The macules ranged in color from dark brown to black and ranged in size from a few mm to 1 cm in diameter. The palms, soles, and buccal mucosa were not affected. The lesions, which did not darken with sun exposure or lighten during the winter, first appeared at age 5 to 7 years; although they persisted throughout life, they faded in later years. The affected individuals had no hypopigmented macules or noncutaneous abnormalities." +151050,"Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by {11:Sousa et al., 2014})." +151100,"LEOPARD is an acronym for the manifestations of this syndrome as listed by {8:Gorlin et al. (1969)}: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness.\n\n<Subhead> Genetic Heterogeneity of LEOPARD Syndrome\n\nLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (LPRD2; {611554}), caused by mutation in the RAF1 gene ({164760}), and LEOPARD syndrome-3 (LPRD3; {613707}), caused by mutation in the BRAF gene ({164757})." +151200,"Leri pleonosteosis is an autosomal dominant skeletal disorder characterized by flexion contractures of the interphalangeal joints, limited movement of multiple joints, and short, broad metacarpals, metatarsals, and phalanges. Additional features may include chronic joint pain, short stature, bony overgrowths, spinal cord compression, scleroderma-like skin changes, and blepharophimosis. The clinical features overlap with several other musculoskeletal conditions, including Myhre syndrome (MYHRS; {139210}) and geleophysic dysplasia (GPHYSD1; {231050}) (summary by {1:Banka et al., 2015})." +151210,"The Torrance type of platyspondylic lethal skeletal dysplasia (PLSDT) is an autosomal dominant disorder characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondroosseous junction. Though generally lethal in the perinatal period, longer survival has been reported (summary by {7:Zankl et al., 2005})." +151380,"{1:Kjellstrom et al. (1979)} reported the cases of acute monocytic leukemia in 2 brothers in 1 family and in 3 persons in 3 generations of another family (grandfather, grandson, and paternal aunt of the latter)." +151400,"Chronic lymphocytic leukemia (CLL) is a common neoplasia of B lymphocytes in which these cells progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival (summary by {39:Quesada et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Chronic Lymphocytic Leukemia\n\nSusceptibility loci have been mapped to chromosomes 11p11 (CLLS1; {609630}) and 13q14 (CLLS2; {109543}) by genomewide linkage analysis and translocation studies, respectively. Susceptibility mapping to chromosome 9q34 (CLLS3; {612557}) is associated with downregulation of the DAPK1 gene ({600831}). Genomewide association studies have identified susceptibility loci on chromosomes 6p25.3 (CLLS4; {612558}) and 11q24.1 (CLLS5; {612559})." +151450,"The leukocyte group-5 antigenic system, first described by {8:van Leeuwen et al. (1964)}--leukocyte group-4 was the early designation for HLA-B and LA the designation for HLA-A--has 2 known alleles (a and b) that segregate independently of the HLA system ({9:van Rood et al., 1967}). It is expressed in leukocytes, placenta, kidney, spleen, lymph nodes, and platelets but not in red cells ({13:Warren et al., 1981}). No involvement in graft rejection or graft-versus-host reactions (see {614395}) has been found ({12:Warren et al., 1977}). LAG5a is associated with acute lymphoblastic leukemia ({12:Warren et al., 1977}). In somatic cell hybrids of Chinese hamster cells with leukocytes from patients with chronic myeloid leukemia, {2:Geurts van Kessel et al. (1983)} concluded that the LAG5b allele which was expressed is coded by human chromosome 4. They cautioned that 'it still remains to be established whether this is a structural or a regulatory gene(s).' LAG5 is characteristic of granulocytic leukocytes, not lymphocytes. Granulocyte antigens are important in leukopenia of the newborn. {5:Lalezari (1984)} recounted the interesting story of the discovery of alloimmune neonatal neutropenia in the DeR family in which 4 infants had severe neonatal neutropenia with infections that caused the death of 1 infant. The antibody in the mother was strikingly specific for neutrophils; eosinophils, basophils and lymphocytes were unaffected. {7:Luhby and Slobody (1956)} and {3:Hitzig and Gitzelmann (1959)} made similar observations. NB1 ({162860}) was the designation Lalezari used for the first anti-neutrophil antibody he demonstrated; see FCGR3A; {146740}. NA2 (see {146740.0001}) was another neutrophil antigen, found as the cause of chronic autoimmune neutropenia ({4:Lalezari et al., 1975}). Yet others were labeled NE1 ({162890}) ({1:Claas et al., 1979}) and ND1 ({162880}) ({10:Verheugt et al., 1978})." +151500,"{2:Seman (1959)} described a family with nuclear projections of the nuclei of neutrophilic leukocytes simulating the drumsticks but not sex-specific. Such were present in 76% of the neutrophils of the male proband and in 25 to 56% of those of his father, uncle, 2 sons, and a daughter, but in neither of his wives. It appears that the same disorder was reported by {1:Girolami et al. (1980)}. Increased nuclear appendages have been described in association with trisomy 13 and possibly the location of the gene in question in this mendelian disorder on chromosome 13 might be considered. {1:Girolami et al. (1980)} observed affected father and son. They thought the anomaly was probably different from that in Seman's family because the platelets were large, although not as large as in patients with the May-Hegglin anomaly ({155100})." +151590,"Lichen sclerosus et atrophicus is a relatively uncommon cutaneous disorder that may affect any area. There is a particular predilection, however, for involvement of the female genitalia. Although typically the patient is a middle-aged female, prepubertal females may also develop this disorder. {4:Shirer and Ray (1987)} stated that about 18 cases of familial LSA had been reported. They concluded that 'heredity plays a role in some, if not all, cases.' They and others reported instances of affected mother-daughter pairs. The eruption of LSA consists of ivory-colored, polygonal, flat-topped lichenoid papules. These papules may coalesce into plaques, which then become atrophic. Adults with vulvar LSA may have an increased risk of developing squamous cell carcinoma of the vulva. Carcinoma has not been known to occur in extragenital lesions. {2:Friedrich and MacLaren (1984)} found 13 instances of familial lichen sclerosis in the literature and added 2 families.\n\n{1:Clay et al. (1994)} found an association between lichen sclerosis and a specific variable number tandem repeat (VNTR) polymorphism in intron 2 of the gene encoding interleukin-1 receptor antagonist (IL1RN; {147679}).\n\n{3:Oyama et al. (2003)} noted that HLA-subtype susceptibility and high rates of other autoimmune disorders suggest that autoantibodies to specific mucocutaneous antigens may be involved in the etiology of lichen sclerosis. The clinicopathologic similarities between lichen sclerosis and lipoid proteinosis ({247100}), which results from mutations in the ECM1 gene ({602201}), suggested that this protein may be an autoantigen in lichen sclerosis. By immunoblotting, IgG autoantibodies to ECM1 were found in 20 of 30 lichen sclerosis serum samples. The highest titer was 1 in 20. These samples, and those from 56 other patients with lichen sclerosis, showed immunoreactivity to the recombinant ECM1 protein; 6 of 85 control serum samples were positive. The findings suggested that specific humeral immune response to ECM1 may be involved in the etiology of lichen sclerosis and may offer help in disease diagnosis, monitoring, and approaches to treatment." +151600,"A white appearance of the nails can result from whitening of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia), and can be due to a variety of factors including infectious, metabolic, or systemic diseases, trauma, or drugs. One of the rare causes of whitening of the nail plate is hereditary leukonychia (summary by {15:Kiuru et al., 2011}). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050})." +151610,"Oculomotor-levator synkinesis (OCLEVS) is characterized by abnormal eyelid elevation or retraction during ipsilateral adduction. The disorder most likely results from aberrant innervation of extraocular muscles by the oculomotor nerve (cranial nerve III). Normally, the levator muscle is served by the superior branch of CN3 and the medial rectus muscle is served by the inferior branch of CN3. The clinical features suggest synkinesis between the medial rectus and levator muscle branches. The disorder can be classified as a congenital cranial dysinnervation disorder (CCDD) and also shows features of congenital fibrosis of the extraocular muscles (CFEOM; see {135700}) (summary by {2:Pang et al., 1986} and {1:Khan et al., 2004})\n\nSee also oculomotor-abducens synkinesis (OCABSN; {619215}), caused by mutation in the ACKR3 gene ({610376}) on chromosome 2q37." +151620,"{5:Sodaify and Vollum (1978)} described a Jewish family in Shiraz, Iran, in which the mother and 4 sons and a daughter from a sibship of 9 had lichen planus. {1:Copeman et al. (1978)} reported 5 families, each with 2 affected members--mother-offspring in 4 and 2 brothers in the fifth. They found an increased frequency of HLA-B7 (in 8 of the 10). They suggested that familial lichen planus affects younger persons and recurs and erupts more acutely, extensively and severely, attacking also nails and mucous membranes, than is the case with nonfamilial lichen planus. They concluded: 'We hint that their genotype might have rendered them susceptible to a pathogen that precipitated their disease.' {3:Mahood (1983)} reported 9 affected persons in 4 families. The disease appeared to differ from the nonfamilial form in an earlier age of onset, tendency to chronicity, increased severity, and the frequent presence of 'atypical' disease. {7:Valsecchi et al. (1990)} described an Italian family in which the 68-year-old father and his monozygotic 34-year-old twin sons were affected. The father had his first attack of lichen planus at the age of 54 years with involvement of the entire trunk. There was no involvement of the mucous membranes. The eruption was controlled with topical steroid therapy but recurred after a remission of 1 year. Systemic prednisolone was administered. The twins developed typical lesions within 1 year of each other and both were treated with steroids, either topical or systemic.\n\n{6:Vabres et al. (2002)} described an unusual mechanism for lichen planus, a skin disease with T cell-mediated inflammation of the epidermis. In a 9-year-old girl who had an HLA-identical dizygotic twin brother, they found a rare ulcerative acral variant of lichen planus. She had chronic painful erythema and ulceration of palms and soles, evolving into poikiloderma and retractile sclerosis of the fingers and toes, with nail dystrophy, but no mucosal or extracutaneous involvement. Her twin brother was unaffected. The presence of male DNA (i.e., several Y chromosome-specific DNA sequences) were amplified from 2 separate blood samples of the girl, and from a lesional skin biopsy sample that showed typical lichenoid features. Although lichenoid skin changes are commonly seen in chronic graft-versus-host disease (GVHD; see {614395}) after bone marrow transplantation, microchimerism is not generally reported in lichen planus. The twins had the same heterozygous HLA-DQA1*0505 allele, very similar to the DQA1*0501 allele associated with persistence of fetal microchimerism ({2:Lambert et al., 2000})." +151623,"Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. LFS is characterized by autosomal dominant inheritance and early onset of tumors, multiple tumors within an individual, and multiple affected family members. In contrast to other inherited cancer syndromes, which are predominantly characterized by site-specific cancers, LFS presents with a variety of tumor types. The most common types are soft tissue sarcomas and osteosarcomas, breast cancer, brain tumors, leukemia, and adrenocortical carcinoma. Classic LFS is defined as a proband with a sarcoma before the age of 45 years and a first-degree relative with any cancer before the age of 45 years and 1 additional first- or second-degree relative in the same lineage with any cancer before the age of 45 years or a sarcoma at any age ({26:Li et al., 1988}). Li-Fraumeni-like syndrome (LFL) is defined as a proband with any childhood cancer, or a sarcoma, brain tumor, or adrenocortical tumor before the age of 45 years, plus a first- or second-degree relative in the same lineage with a typical LFS tumor at any age, and an additional first- or second-degree relative in the same lineage with any cancer before the age of 60 years ({6:Birch et al., 1994}). A less restrictive definition of LFL is 2 different LFS-related tumors in first- or second-degree relatives at any age ({10:Eeles, 1995}). Approximately 70% of LFS cases and 40% of LFL cases contain germline mutations in the p53 gene on chromosome 17p13.1 ({1:Bachinski et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Li-Fraumeni Syndrome\n\nA second form of Li-Fraumeni syndrome (LFS2; {609265}) is caused by mutation in the CHEK2 gene ({604373})." +151640,{1:Levin (1986)} told me of a family with this anomaly in an autosomal dominant pedigree pattern. +151660,"Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by {11:Garg, 2004}).\n\nThe disorder may be misdiagnosed as Cushing disease (see {219080}) ({16:Kobberling and Dunnigan, 1986}; {11:Garg, 2004}).\n\n<Subhead> Genetic Heterogeneity of Familial Partial Lipodystrophy\n\nFamilial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; {608600}), characterized by loss of subcutaneous fat confined to the limbs ({17:Kobberling et al., 1975}), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk ({7:Dunnigan et al., 1974}; {16:Kobberling and Dunnigan, 1986}). No genetic basis for FPLD1 has yet been delineated. FPLD3 ({604367}) is caused by mutation in the PPARG gene ({601487}) on chromosome 3p25; FPLD4 ({613877}) is caused by mutation in the PLIN1 gene ({170290}) on chromosome 15q26; FPLD5 ({615238}) is caused by mutation in the CIDEC gene ({612120}) on chromosome 3p25; FPLD6 ({615980}) is caused by mutation in the LIPE gene ({151750}) on chromosome 19q13; and FPLD7 ({606721}) is caused by mutation in the CAV1 gene ({601047}) on chromosome 7q31." +151700,"{1:Saebo (1948)} described 3 persons in 3 successive generations: grandfather, mother, and daughter. The tumor is distinct from the conjunctival lipodermoid of the Goldenhar syndrome ({164210})." +151800,"Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by the growth of uncapsulated masses of adipose tissue. It is associated with high ethanol intake and may be complicated by somatic and autonomic neuropathy and by the infiltration of the adipose tissue at the mediastinal level (summary by {4:Enzi et al., 2002})." +151900,"Familial multiple lipomatosis is a rare autosomal dominant disorder characterized by numerous encapsulated lipomas on the trunk and extremities ({7:Keskin et al., 2002})." +152100,"In the serum of a multiply transfused boy, {1:Berg (1965)} found an isoprecipitin against a factor in the serum low-density lipoprotein of about 42% of healthy persons. He named the factor Ld for 'low-density.'\n\nData on gene frequencies of allelic variants were tabulated by {2:Roychoudhury and Nei (1988)}." +152300,"For references, see {152200}." +152390,"The leukotrienes constitute a group of arachidonic acid-derived compounds with biologic activities suggesting important roles in inflammation and immediate hypersensitivity. The enzyme 5-lipoxygenase ({EC 1.13.11.34}) catalyzes 2 reactions in the formation of leukotrienes ({17:Matsumoto et al., 1988})." +152400,"{1:Seegers et al. (1965)} observed double beta-lipoprotein in 6 families. The relation of the locus revealed by this mutant form to those studied by the lipoprotein types of Berg and Blumberg (see {107730}, {152100}, {152200}) is unknown." +152420,"Genetic factors have been shown to be important in differences in the red cell-plasma lithium concentration ratio ({1:Dorus et al., 1975}). {2:Ostrow et al. (1978)} concluded that one group of manic-depressive patients have a heritable disorder of lithium transport across red cell membranes. Specifically, they concluded that the defect is in lithium-sodium counterflow. In 1 family that they diagrammed in a pedigree, the father and a son and 2 daughters from a sibship of 8 showed the defect." +152450,"{1:Fisher et al. (1975)} found that the molecular weight of monodisperse human plasma low density lipoprotein (LDL) varies very little in a specific individual and is not related to age, sex, hyperlipemia or vulnerability to early coronary artery disease, whereas the range of variation in a group of 69 persons was rather wide. Family studies showed a correlation coefficient of 0.82 between parents and offspring (significance 0.01) and no significant correlation of father's and mother's LDL molecular weights. Studies in 5 families yielded molecular weight data consistent with a single gene locus determination without dominance." +152600,"Size of the lunulae and indeed their presence or absence are variable matters presumably under genetic control, although no systemic investigation of the genetics has been performed. The lunulae are usually largest on the thumbnail and if present at all are most likely to be found on the thumb. Azure lunulae occur in Wilson disease ({277900})." +152700,"Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by {95:Oishi et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Systemic Lupus Erythematosus\n\nAn autosomal recessive form of systemic lupus erythematosus (SLEB16; {614420}) is caused by mutation in the DNASE1L3 gene ({602244}) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; {301080}) is caused by heterozygous mutation in the TLR7 gene ({300365}) on chromosome Xp22.\n\nSee MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE." +152900,"{1:Avasthey and Roy (1968)} reported a woman with lymphedema of the feet beginning in her teens and a cerebrovascular anomaly indicated by a loud systolic bruit over the temples and transmitted down the carotids. A son, aged 20 years, likewise had foot lymphedema and a cranial bruit and by angiogram a large extracranial arteriovenous malformation over the parietal region. Two other sons had lymphedema, cerebrovascular malformation, and primary pulmonary hypertension. One son was normal and the only daughter had lymphedema of both feet and bilateral temporoparietal bruit." +152950,"Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by {21:Ostergaard et al., 2012}). {24:Robitaille et al. (2014)} found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).\n\n{4:Birtel et al. (2017)} observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families ({11:Jones et al., 2014}; {15:Li et al., 2016}).\n\nAutosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).\n\nSee also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1." +153100,"Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {10:Gordon et al., 2013} and {1:Balboa-Beltran et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Lymphatic Malformation\n\nPrimary lymphedema is genetically heterogeneous: see also LMPHM2 ({611944}), which maps to chromosome 6q16.2-q22.1; LMPHM3 ({613480}), caused by mutation in the GJC2 gene ({608803}) on chromosome 1q42; LMPHM4 ({615907}), caused by mutation in the VEGFC gene ({601528}) on chromosome 4q34; LMPHM5 ({153200}); LMPHM6 ({616843}), caused by mutation in the PIEZO1 gene ({611184}) on chromosome 16q24; LMPHM7 ({617300}), caused by mutation in the EPHB4 gene ({600011}) on chromosome 7q22; LMPHM8 ({618773}), caused by mutation in the CALCRL gene ({114190}) on chromosome 2q31; LMPHM9 ({619319}), caused by mutation in the CELSR1 gene ({604523}) on chromosome 22q13; LMPHM10 ({610369}), caused by mutation in the ANGPT2 gene ({601922}) on chromosome 8p23; and LMPHM11 ({619401}), caused by mutation in the TIE1 gene ({600222}) on chromosome 1p34.\n\nLymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome ({153400}), which is caused by mutation in the FOXC2 gene ({602402}), and various forms of nonimmune hydrops fetalis (NIHF; see {236750})." +153200,"Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {9:Gordon et al., 2013} and {3:Balboa-Beltran et al., 2014}).\n\nFor a discussion of the genetic heterogeneity of lymphocytic malformation, see {153100}." +153245,"LEF1 is a nuclear protein that is expressed in pre-B and T cells. It binds to a functionally important site in the T-cell receptor-alpha (TCRA; see {186880}) enhancer and confers maximal enhancer activity. LEF1 belongs to a family of regulatory proteins that share homology with high mobility group protein-1 (HMG1; {163905}) ({22:Waterman et al., 1991}; {21:van Genderen et al., 1994})." +153280,"See {153430} for a general discussion of this class of proteins. These proteins were identified by high resolution 2-dimensional gel electrophoresis developed by {2:O'Farrell (1975)}. {1:Hamaguchi et al. (1982)} found in the Japanese population polymorphism of a 40-kD polypeptide, which was demonstrated by Coomassie blue-staining of material from PHA-stimulated peripheral blood lymphocytes. {1:Hamaguchi et al. (1982)} demonstrated autosomal dominant inheritance of variants and gave gene frequency for the genetic polymorphism in the Japanese population.\n\nData on gene frequencies of allelic variants were tabulated by {3:Roychoudhury and Nei (1988)}." +153290,"See {153430} for a general discussion of this class of proteins. These proteins were identified by high resolution 2-dimensional gel electrophoresis developed by {2:O'Farrell (1975)}. {1:Hamaguchi et al. (1982)} found in the Japanese population polymorphism of a 49-kD polypeptide, which was demonstrated by Coomassie blue-staining of material from PHA-stimulated peripheral blood lymphocytes. {1:Hamaguchi et al. (1982)} demonstrated autosomal dominant inheritance of variants and gave the gene frequency for the genetic polymorphism in the Japanese population.\n\nData on gene frequencies of allelic variants were tabulated by {3:Roychoudhury and Nei (1988)}." +153300,"Yellow nail syndrome (YNS) is classically considered to comprise a clinical triad of yellow nails, lymphedema, and respiratory tract involvement. Two of these symptoms are required for the diagnosis, since the complete triad is only observed in about one-third of patients. Onset is usually after puberty ({3:Hoque et al., 2007})." +153400,"Lymphedema-distichiasis is an autosomal dominant disorder that classically presents as lymphedema of the limbs and double rows of eyelashes (distichiasis). Irritation of the cornea, with corneal ulceration in some cases, brings the patients to the attention of ophthalmologists. Other complications may include cardiac defects, varicose veins, ptosis, cleft palate, spinal extradural cysts, and photophobia ({13:Fang et al., 2000}; {4:Brice et al., 2002})." +153550,"The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes ({4:Ebert et al., 2008})." +153600,"Waldenstrom macroglobulinemia (WM) is a malignant B-cell neoplasm characterized by lymphoplasmacytic infiltration of the bone marrow and hypersecretion of monoclonal immunoglobulin M (IgM) protein (review by {25:Vijay and Gertz, 2007}). The importance of genetic factors is suggested by the observation of familial clustering of WM ({12:McMaster, 2003}). Whereas WM is rare, an asymptomatic elevation of monoclonal IgM protein, termed 'IgM monoclonal gammopathy of undetermined significance' (IgM MGUS) is more common. Patients with IgM MGUS can progress to develop WM, at the rate of 1.5% to 2% per year ({9:Kyle et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Waldenstrom Macroglobulinemia\n\nA locus for susceptibility to Waldenstrom macroglobulinemia (WM2; {610430}) has been mapped to chromosome 4q." +153630,"Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease ({232300}), neurofibromatosis ({162200}), congenital hypothyroidism, and the Beckwith-Wiedemann syndrome ({130650})." +153700,"Best vitelliform macular dystrophy is an early-onset autosomal dominant disorder characterized by large deposits of lipofuscin-like material in the subretinal space, which creates characteristic macular lesions resembling the yolk of an egg ('vitelliform'). Although the diagnosis of Best disease is often made during the childhood years, it is more frequently made much later and into the sixth decade of life. In addition, the typical egg yolk-like lesion is present only during a limited period in the natural evolution of the disease; later, the affected area becomes deeply and irregularly pigmented and a process called 'scrambling the egg' occurs, at which point the lesion may appear as a 'bull's eye.' The disorder is progressive and loss of vision may occur. A defining characteristic of Best disease is a light peak/dark trough ratio of the electrooculogram (EOG) of less than 1.5, without aberrations in the clinical electroretinogram (ERG). Even otherwise asymptomatic carriers of BEST1 mutations, as assessed by pedigree, will exhibit an altered EOG. Histopathologically, the disease has been shown to manifest as a generalized retinal pigment epithelium (RPE) abnormality associated with excessive lipofuscin accumulation, regions of geographic RPE atrophy, and deposition of abnormal fibrillar material beneath the RPE, similar to drusen. Occasional breaks in the Bruch membrane with accompanying neovascularization have also been reported, although Best disease is not noted for extensive choroidal neovascularization. Many of these features are also found in age-related macular degeneration (see {603075}) (summary by {5:Braley, 1966}; {53:White et al., 2000}; {29:Marmorstein et al., 2000}; {26:Leroy, 2012}).\n\nFor a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 ({153840})." +153800,"Age-related macular degeneration-2 (ARMD2) is a complex disorder characterized by the accumulation of drusen in and under the retinal pigment epithelium (RPE) and the progressive atrophy of the macular RPE. These changes result in loss of photoreceptor function and vision impairment. Environmental risk factors include cigarette smoking, diet, and cholesterol level (summary by {1:Allikmets et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see {603075}." +153840,"Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {4:Manes et al., 2013}). In contrast to typical VMD (see {153700}), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals ({2:Hittner et al., 1984}).\n\n<Subhead> Genetic Heterogeneity of Vitelliform Macular Dystrophy\n\nSee also vitelliform macular dystrophy-2 (VMD2; {153700}), caused by mutation in the BEST1 gene ({607854}) on chromosome 11q; VMD3 ({608161}), caused by mutation in the PRPH2 gene ({179605}) on chromosome 6p21; VMD4 ({616151}), caused by mutation in the IMPG1 gene ({602870}) on chromosome 6q14; and VMD5 ({616152}), caused by mutation in the IMPG2 gene ({607056}) on chromosome 3q12." +153870,"Retinitis pigmentosa-91 (R91) is characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy. Patients may also experience early macular involvement, with photophobia and reduced visual acuity, and some show a bull's eye pattern of macular atrophy ({5:Olivier et al., 2021})." +153880,"Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by {8:Saksens et al., 2015})." +153890,"{1:O'Donnell and Welch (1979)} reported a 'new' slowly progressive macular dystrophy in 5 persons in 3 generations. It was asymptomatic until the sixth decade. The earliest ophthalmoscopic finding was in a 4-year-old and consisted of a yellowish refractile sheen in the sensory retina at the macula. Red fenestrations were present within the sheen. By the third decade an annular zone of hypopigmentation of the retinal pigment epithelium appeared around the area of sheen and progressively enlarged. No male-to-male transmission was noted. Affected persons were grandfather, 2 daughters, and 2 grandsons by 1 daughter. The males were no more severely affected than the females." +154275,"Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease with autosomal dominant inheritance triggered by exposure to commonly used inhalational anaesthetics or depolarizing muscle relaxants (summary by {5:Sudbrak et al., 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 ({145600})." +154276,"Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle which manifests as a potentially fatal hypermetabolic crisis triggered by commonly used anaesthetic agents (summary by {1:Iles et al., 1994}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia susceptibility, see MHS1 ({145600})." +154300,"{1:Stoddard (1947)} observationed 19 persons in 8 sibships in 3 generations. No male-to-male transmission was observed but of the 8 daughters of an affected male 3 were spared, making X-linked dominance with full penetrance impossible." +154370,"{1:Ervin et al. (1989)} isolated polypeptides of 47 and 65 kD, called mammastatin, from conditioned medium of normal human mammary cells. Monoclonal antibodies against mammastatin were generated that blocked its activity and were used for purification and further characterization of the protein. Mammastatin inhibited the growth of 5 transformed human mammary cell lines, but had no effect on the growth of 11 transformed human cell lines derived from nonmammary tissues. It appears to be a heat-labile protein. By immunoperoxidase staining, {1:Ervin et al. (1989)} detected it in cultured normal human mammary cells but found that it was decreased in transformed mammary cells." +154400,"Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome ({263750}), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by {4:Bernier et al., 2012})." +154500,"Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present ({14:Dixon, 1996}).\n\n<Subhead> Genetic Heterogeneity of Treacher Collins Syndrome\n\nTreacher Collins syndrome-2 (TCS2; {613717}) is caused by mutation in the POLR1D gene ({613715}) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3; {248390}) is caused by mutation in the POLR1C gene ({610060}) on chromosome 6p21. Treacher Collins syndrome-4 (TCS4; {618939}) is caused by mutation in the POLR1B gene ({602000}) on chromosome 2q14." +154600,"The Marcus Gunn phenomenon consists of unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. Although it usually persists into adult life, the phenomenon is seen in its most marked forms in infancy when the rapid spasmodic movements of the lid are apparent during sucking and thus are noted soon after birth ({2:Doco-Fenzy et al., 2006})." +154700,"A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular ({93:McKusick, 1972}; {111:Pyeritz and McKusick, 1979}; {114:Pyeritz, 1993}). It shares overlapping features with congenital contractural arachnodactyly ({121050}), which is caused by mutation in the FBN2 gene ({612570}).\n\n{59:Gray and Davies (1996)} gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by {97:Murdoch et al. (1972)} and by {128:Silverman et al. (1995)}. {59:Gray and Davies (1996)} also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations." +154780,"Marshall syndrome (MRSHS) is charactized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In constrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by {17:Shanske et al., 1997} and {1:Ala-Kokko and Shanske, 2009})." +154800,"Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by {3:Bodemer et al., 2010} and {11:Kambe et al., 2010})." +155000,"Maxillofacial dysostosis is a rare disorder characterized by maxillary hypoplasia, delayed onset of speech, and poor development of language skills without associated hearing loss. Occasional findings are downslanting palpebral fissures and minor auricle abnormalities (summary by {1:Escobar et al., 1977})." +155100,"Macrothrombocytopenia with or without granulocyte inclusions, nephritis, or sensorineural hearing loss was previously thought to comprise 4 distinct entities with overlapping features: Fechtner syndrome, May-Hegglin anomaly, Epstein syndrome, and Sebastian syndrome. Fechtner syndrome was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes, with the additional Alport syndrome ({301050})-like features of nephritis, hearing loss, and eye abnormalities, predominantly cataracts ({34:Peterson et al., 1985}). May-Hegglin anomaly was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. Epstein syndrome was characterized by thrombocytopenia, deafness, and nephritis, and lacked leukocyte inclusion bodies on classic staining of peripheral blood smears. Sebastian syndrome was similar to May-Hegglin anomaly, but had a different ultrastructural appearance of the leukocyte inclusions. {38:Seri et al. (2003)} suggested that these 4 disorders were not distinct entities, but rather represented a single disorder with a continuous clinical spectrum because variable phenotypic expression is observed not only between families but also within families having the same MYH9 mutation. In addition, {1:Balduini et al. (2011)} noted that all patients present leukocyte inclusion bodies, although of variable size. {38:Seri et al. (2003)} proposed the term 'MYH9-related disease' for the disorder; however, an isolated form of nonsyndromic deafness (DFNA17; {603622}) is also caused by mutation in the MYH9 gene." +155140,"{1:Lajarrige et al. (1989)} described a family in which the grandfather died in the course of surgical intervention for perforated Meckel diverticulum. The father of the proband was operated on at the age of 14 years for perforation of a Meckel diverticulum that contained heterotrophic gastric mucosa. The proband, born in 1980, complained of recurrent abdominal pain that was incompletely relieved by aluminum hydroxide and magnesium hydroxide. Although scans using technetium 99 were negative, surgery was undertaken because of the family history. A Meckel diverticulum containing mucosa resembling that of the gastric fundus was found." +155145,"Pai syndrome is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychologic development ({2:Guion-Almeida et al., 2007})." +155150,"Anastomosis of the median and ulnar nerves was described as a frequent 'normal' variant by {3:Martin (1763)} in Sweden and by {2:Gruber (1870)} in Leipzig. Axons descend in the median nerve, joining the ulnar nerve in the forearm before innervating intrinsic muscles of the hand. {1:Crutchfield and Gutmann (1980)} found median-ulnar communications in 28% of the general population and in 62% of family members. They proposed autosomal dominant inheritance. No male-to-male transmission was noted in a small series of families. Most often the anomalous axons innervated the first dorsal interosseous muscles and less often the hypothenar and thenar muscles. {2:Gruber (1870)} reported a frequency of 15.1% on dissection of 125 cadaver arms. {4:Srinivasan and Rhodes (1981)} found bilateral median-ulnar anastomoses in all 8 trisomy 21 fetuses studied, but no bilateral anastomoses were found in 7 trisomy 18, 1 trisomy 13, or 10 anencephaly fetuses. Awareness of the variation is important in the evaluation of median and ulnar neuropathies. A comparable anomaly has been observed in innervations of the extensor digitorum brevis muscle by the accessory deep peroneal nerve ({170980})." +155200,"{1:Kisch and Nasuhoglu (1953)} described a mediosternal, longitudinally directed streak of hypopigmentation in 5 blacks. I have observed this, but no systematic family studies have been done. See Futcher line ({137000}) and raindrop depigmentation ({179500}) for other pigment peculiarities in blacks." +155240,"Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin ({114130})-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2 (see {171400})/familial medullary thyroid carcinoma (FMTC) syndromes (summary by {1:Abu-Amero et al., 2006}). Thyroid cancer derived from follicular epithelial cells is referred to as nonmedullary thyroid cancer and comprises several subtypes; see {188550}." +155255,"Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome ({109400}), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see {276300}). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy ({6:Crawford et al., 2007}).\n\n{18:Millard and De Braganca (2016)} reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features." +155310,"Familial visceral myopathy (VSCM) is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death ({11:Lehtonen et al., 2012}). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by {29:Wangler et al., 2014}).\n\nAnother form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia ({277320}).\n\nFunctional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome ({100100}) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).\n\n<Subhead> Genetic Heterogeneity of Visceral Myopathy\n\nVSCM2 ({619350}) is caused by mutation in the MYH11 gene ({160745}) on chromosome 16p13." +155350,"Primary megalencephaly is defined as a head circumference about the 98th percentile that most likely is due to brain enlargement and is not secondary to disease (review by {4:Petersson et al., 1999})." +155500,"Macrodactyly is a congenital anomaly characterized by fibrofatty tissue enlargement and bony overgrowth in affected digits with resultant loss of function. Macrodactyly affects a 'nerve territory,' and the individual peripheral nerve is both enlarged and elongated (summary by {4:Rios et al., 2013})." +155600,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {57:Habif, 2010}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Cutaneous Malignant Melanoma\n\nThe locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 ({155601}), caused by variation in the CDKN2A gene ({600160}) on chromosome 9p21; CMM3 ({609048}), caused by variation in the CDK4 gene ({123829}) on chromosome 12q14; CMM4 ({608035}), mapped to chromosome 1p22; CMM5 ({613099}), caused by variation in the MC1R gene ({155555}) on chromosome 16q24; CMM6 ({613972}), caused by variation in the XRCC3 gene ({600675}) on chromosome 14q32; CMM7 ({612263}), mapped to chromosome 20q11; CMM8 ({614456}), caused by variation in the MITF gene ({156845}) on chromosome 3p13; CMM9 ({615134}), caused by variation in the TERT gene ({187270}) on chromosome 5p15; and CMM10 ({615848}), caused by mutation in the POT1 gene ({606478}) on chromosome 7q31.\n\nSomatic mutations causing malignant melanoma have also been identified in several genes, including BRAF ({164757}), STK11 ({602216}), PTEN ({601728}), TRRAP ({603015}), DCC ({120470}), GRIN2A ({138253}), ZNF831, BAP1 ({603089}), and RASA2 ({601589}). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E ({164757.0001}) ({34:Davies et al., 2002}; {93:Pollock et al., 2003})." +155601,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {19:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 ({155600})." +155700,"{1:Bowen et al. (1964)} reported malignant intraocular melanoma in a 45-year-old white female and her 26-year-old daughter. {3:Davenport (1927)} reported this malignancy in 3 successive generations. The occurrence of cutaneous melanoma and intraocular melanoma as double primary cancers in the same patient and in different members of the same family has suggested that these 2 forms of melanoma may be etiologically related. From their family studies, {4:Greene et al. (1983)} concluded that these associations may be coincidental." +155770,"{1:Real et al. (1988)} found antibodies in the serum of a melanoma patient (FD) that detected an antigenic determinant restricted to the autologous melanoma cell line SK-MEL-131. This cell-surface determinant was carried on a glycoprotein of 90 kD, designated gp90. Mouse monoclonal antibodies were used to demonstrate that SK-MEL-131 has 2 types of determinants: those detected by FD serum and those detected by the mouse monoclonal antibodies. Capillary endothelial cells and duct epithelium in sweat glands, breast, and pancreas showed gp90 restricted (FD) expression. Expression was strong in melanomas and sarcomas, suggesting up-regulation of gp90 synthesis in certain human cancers. (The symbol gp90 is used by some for the leukocyte adhesion glycoprotein that maps to human chromosome 21; see {600065}.)" +155900,"Melkersson-Rosenthal syndrome is characterized by chronic swelling of the face, peripheral facial palsy, which may be bilateral and may tend to relapse, and in some cases ligua plicata (fissured tongue). The swelling is localized especially to the lips. Onset is usually in childhood or adolescence (summary by {4:Kunstadter, 1965})." +155950,"Melorheostosis (MEL) is characterized by 'flowing' hyperostosis of the cortex of tubular bones. The lesions are usually asymmetric and involve only 1 limb or correspond to a particular sclerotome. They may be accompanied by abnormalities of adjacent soft tissue, including joint contractures, sclerodermatous skin lesions, muscle atrophy, or hemangiomas (review by {7:Hellemans et al., 2004}). The designation combines root words meaning 'limb,' 'flow,' and 'bone.'\n\nMelorheostosis may sometimes be a feature of Buschke-Ollendorff syndrome (BOS; {166700}), a benign disorder which is caused by mutation in the LEMD3 gene ({607844}). Although germline or somatic LEMD3 mutations had been postulated to cause isolated melorheostosis ({1:Butkus et al., 1997}; {2:Debeer et al., 2003}; {6:Happle, 2004}; {7:Hellemans et al., 2004}), several studies have not been able to prove this ({7:Hellemans et al., 2004}; {9:Mumm et al., 2007}; {12:Zhang et al., 2009})." +155980,"{2:Gonzalez-del Angel et al. (1992)} described a girl and her mother with delayed intramembranous ossification of the cranial vault. The 11-month-old daughter had a large ossification defect involving parietal bones, squamous portion of temporal bones, and interparietal region of the occipital bone, while the mother showed a completely ossified cranial vault with flat posterior parietal region and prominent occiput. The 2 had a similar face characterized by frontal bossing, hypertelorism, downward slant of palpebral fissures, flat nasal bridge, and short midface. The mother had had a soft skull vault during infancy which progressively became hard without treatment. Her facial appearance at age 1 year was similar to that of her child. Radiographs of the skull showed more evident sagittal and lambdoid sutures than expected for a 31-year-old person. No other skeletal abnormalities were found. {2:Gonzalez-del Angel et al. (1992)} concluded that this disorder is distinct from the cranium bifidum/parietal foramina entity ({168500}).\n\n{1:Cargile et al. (2000)} reported a second family with delayed membranous cranial ossification, segregating in this instance with an apparently balanced reciprocal translocation between chromosomes 2 and 3. The propositus had low-set ears, proptosis, and a soft skull at birth. A radiographic survey of the skeleton showed markedly decreased ossification of the cranial bones and no other skeletal abnormalities. The mother and maternal grandmother had brachycephaly, hypertelorism, and a history of a soft skull at birth. All 3 had the translocation t(2;3)(p15;q12). Two phenotypically normal sibs of the mother had a normal karyotype." +156000,"Meniere disease is a chronic illness characterized by intermittent episodes of vertigo lasting from minutes to hours, with fluctuating sensorineural hearing loss, tinnitus, and aural pressure ({8:Sajjadi and Paparella, 2008})." +156190,"{2:Sato et al. (1989)} described 3 sisters and their father who had a reciprocal balanced translocation t(8;11)(q24.3;p15.1) and the same abnormal phenotype including mental retardation, growth deficiency, and amblyopia. The patients did not have features of either the Langer-Giedion syndrome ({150230}) or of the Beckwith-Wiedemann syndrome ({130650}). {2:Sato et al. (1989)} suggested that the syndrome might be due to a mutation at the breakpoint either on 11p or 8q. They favored the former because in a review of reported patients with deletion in the 11p15 area, many ophthalmologic symptoms such as glaucoma, cataracts, nystagmus, ptosis, and exotropia have been described in addition to aniridia ({1:Gilgenkrantz et al., 1982})." +156220,{2:Massey (1978)} described a 16-year-old boy who complained of numbness and discomfort in his left thigh and showed an area of anesthesia on the lateral aspect of his thigh in the distribution of the anterior branch of the lateral femoral cutaneous nerve. His maternal grandmother and a maternal aunt had had similar areas of sensory loss for many years. Other familial reports were noted. Sigmund {1:Freud (1895)} reported that he and one of his sons had this condition. The carpal tunnel syndrome ({115430}) is another entrapment neuropathy that is sometimes familial. +156230,"{1:Leroy et al. (1975)} described a 'new' form of mesomelic dwarfism characterized by hypoplasia of the tibia and radius. A father and 2 of his sons were affected. The involvement of the tibia was severe with pseudarthrosis and phenomenal discrepancy in length of the fibula, the head of which was at the level of the distal part of the femoral diaphysis. In the Nievergelt syndrome ({163400}), both the tibia and the fibula are severely affected. Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type ({249700}) is inherited as an autosomal recessive. Other forms of mesomelic dwarfism are dyschondrosteosis ({127300}), which may be the heterozygous state of the Langer mesomelic dwarfism ({249700}), and hypoplastic ulna and fibula type ({191400})." +156232,"Kantaputra mesomelic dysplasia (MMDK) is a rare, autosomal dominant skeletal disease characterized by symmetric marked shortening of the upper and lower limbs. The ulnae are very short and the radii are bowed. The distal humerus has a dumbbell shape, whereas the hands are relatively normal but show progressive flexion contractures of the proximal interphalangeal joints. Carpal and tarsal synostoses are observed in some individuals. In the lower limbs, the feet are fixed in plantar flexion with the sole facing backward, causing 'ballerina-like standing.' The prominent distal fibula on the ventral aspect is considered to be the signature finding of the syndrome. The calcaneus is small or missing, and a small fibula and talus as well as fibulocalcaneal synostosis are characteristic features. The tibial bony knot articulates with the proximal end of the fibula (summary by {7:Kantaputra et al., 2010}).\n\nSee {613681} for discussion of the chromosome 2q31.1 duplication syndrome, which shows cytogenetic and phenotypic overlap with MMDK." +156240,"Malignant mesothelioma is an aggressive neoplasm of the serosal lining of the chest etiologically linked to asbestos. It is diagnosed in approximately 2,000 to 3,000 individuals annually in the United States, most of whom die within 2 years of diagnosis (summary by {6:Bott et al., 2011}).\n\nSee also {614327} for a tumor predisposition syndrome that may contribute to the development of malignant mesothelioma upon asbestos exposure and is caused by germline mutation in the BAP1 gene ({603089}) on chromosome 3p21." +156250,"Metachondromatosis is characterized by exostoses (osteochondromas), commonly of the hands and feet, and enchondromas of long bone metaphyses and iliac crests (summary by {9:Sobreira et al., 2010})." +156300,{1:Danes et al. (1970)} described 6 families in which metachromasia could be traced through normal individuals in at least 3 generations. The basis for the metachromasia was not known. Increased concentrations of mucopolysaccharides was not the explanation. Possibly this cellular characteristic was an expression of the heterozygous state of some recessive disorders. +156310,"In 10 members of 4 generations with several instances of male-to-male transmission, {1:Wright et al. (1988)} described an apparent variant of adult-onset metachromatic leukodystrophy. Arylsulfatase A levels were normal, yet the histologic findings in the autopsy in 1 case were those of metachromatic leukodystrophy, and thin-layer chromatography confirmed an excess of sulfatides in the white matter of the brain. The adrenals were unaffected. Disabling hypotension was a striking feature in 2 brothers studied in detail. Because adrenal function was normal, autonomic neuropathy was considered the cause of this feature. The index case, a 55-year-old white male, presented to hospital 3 months before his death with a 2 to 3 year history of progressive difficulty walking. He had also suffered from urinary urgency and incontinence during the previous 6 to 12 months and had noticed clumsiness in his hands shortly before admission to hospital. The severity of the ailment was about equal in males and females in this family. All affected individuals had an affected parent except for the affected male in the first generation, and information concerning his parents is lacking." +156400,"The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by {2:Cohen, 2002})." +156500,"Schmid-type metaphyseal chondrodysplasia is characterized by short stature and bowing of the long bones; radiographic features include widening and irregularity of the growth plates, especially in the distal and proximal femora (summary by {15:Makitie et al., 2005})." +156510,"Metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is an autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth (summary by {4:Moffatt et al., 2013})." +156520,"{1:Juberg and Touchstone (1974)} described type 1 metatarsus varus in 9 persons in 4 generations with male-to-male transmission. Metatarsus varus is a malformation of the anterior foot that results in inward angulation. Type 1, the most common form, shows adduction of the anterior foot, high longitudinal arch, concavity of the medial border and convexity of the lateral border of the foot, and neutral position of the heel. Type 2 is a deformity residual after correction of the more severe forms of clubfoot. The third form, the rarest, usually has a fixed valgus deformity of the heel and is often associated with other anomalies. The first and third types have been noted to 'run in families' as multifactorial traits. A mendelian form is indicated by the kindred of {1:Juberg and Touchstone (1974)}." +156530,"Metatropic dysplasia (MTD) is characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement, and shortening of long bones ({7:Genevieve et al., 2008})." +156550,"Kniest dysplasia is characterized by skeletal and craniofacial anomalies. Skeletal anomalies include disproportionate dwarfism, a short trunk and small pelvis, kyphoscoliosis, short limbs, and prominent joints and premature osteoarthritis that restrict movement. Craniofacial manifestations include midface hypoplasia, cleft palate, early-onset myopia, retinal detachment, and hearing loss. The phenotype is severe in some patients and mild in others. There are distinct radiographic changes including coronal clefts of vertebrae and dumbbell-shaped femora. The chondrooseous morphology is pathognomonic with perilacunar 'foaminess' and sparse, aggregated collagen fibrils resulting in an interterritorial matrix with a 'Swiss-cheese' appearance (summary by {17:Wilkin et al., 1999})." +156580,"Microcephaly strictly means abnormally small head size, but usually refers to an occipitofrontal head circumference below -2 SD from the mean for the infant's gestational age, sex, and ethnic origin. Microcephaly may appear as an isolated trait or in association with other malformations. It may also be sporadic or familial. Some familial cases are autosomal dominant, but most appear to be recessive (see {251200}) (summary by {9:Merlob et al., 1988})." +156600,"Inherited congenital microcoria, also referred to as congenital miosis, is characterized by bilateral small pupils (diameter less than 2 mm) that result from an underdevelopment of the dilator pupillae muscle of the iris ({3:Holth and Berner, 1923}; {7:Simpson and Parsons, 1989}). Iris transillumination defects are a constant feature. The pupil dilates poorly or not at all in response to topically administered mydriatic drugs. The disorder is transmitted as an autosomal dominant trait with complete penetrance and is associated with goniodysgenesis and glaucoma ({8:Tawara and Inomata, 1983}; {4:Mazzeo et al., 1986}; {10:Toulemont et al., 1995})." +156610,"Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by {5:Isrie et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Congenital Symmetric Circumferential Skin Creases\n\nCSCSC2 ({616734}) is caused by mutation in the MAPRE2 gene ({605789}) on chromosome 18q12." +156700,"Grandmother, mother, son, and daughter showed this combination in the family reported by {1:Holmes and Walton (1969)}." +156830,"In a survey of lethal osteochondrodysplasias in the county of Fyn (Funen), Denmark, {1:Andersen (1989)} found 2 cases of micromelic dysplasia with cloverleaf skull. One, a male, was born of a 49-year-old father and a 39-year-old mother who were not consanguineous. Micromelic bone dysplasia with cloverleaf skull has the same thoracic, pelvic, and spinal radiographic findings as thanatophoric dysplasia ({187600}) but does not have 'telephone receiver' femora. The micromelia is less severe than in thanatophoric dysplasia. Autosomal recessive inheritance was suggested by {2:Elejalde and de Elejalde (1985)}. The age of the father in Andersen's case suggests a new dominant mutation.\n\nIt is possible that this disorder is indeed a variant of thanatophoric dysplasia and is due to mutation in the gene for fibroblast growth factor receptor-3 (FGFR3; {134934}). {3:Tavormina et al. (1995)} found 3 mutations in that gene correlating with distinct subtypes of thanatophoric dysplasia." +156900,"{1:Usher (1921)} described a family with microphthalmia, myopia, corectopia, and microcornea in 11 members over 4 generations. Six family members also had rotatory nystagmus. There were 3 instances of male-to-male transmission." +157150,"{1:Johnson et al. (1971)} described a family in which 11 persons in 4 generations had microspherophakia with upward dislocation of the lens, myopia, retinal detachment and inguinal hernias in various combinations. No other stigmata of either the Marfan ({154700}) or the Weill-Marchesani ({277600}) syndrome were detected. They suggested that this is a distinct connective tissue disorder. No male-to-male transmission occurred in their family. As an isolated trait, microspherophakia has been thought to be recessive ({251750})." +157151,"{1:Verloes et al. (1990)} described a 'new' form of dwarfing skeletal dysplasia associated with major ocular abnormalities in a father and son. Although the small bones of the limbs were almost unaffected, thickening of the diaphyses of the long bones was striking on initial radiographs. With age, metaphyseal deformation became more prominent. The epiphyses became irregular and their growth was delayed, particularly at the femoral heads. The femoral neck showed an unusual 'lip' on the inner edge. In adulthood, only enlarged metaphyses and deformed femoral necks persisted. The vertebrae showed moderate deformation with irregular flattening, and narrowing of the spinal canal with a reduced interpedicular distance. The eye defects consisted of high-grade myopia, microspherophakia, lens coloboma, lens luxation, and retinal detachment. At age 41, the father was 139 cm tall." +157300,"Migraine is the most common type of chronic, episodic headache, as summarized by {8:Featherstone (1985)}.\n\nOne locus for migraine with or without aura (MGR1) has been identified on chromosome 4q24. Other loci for migraine have been identified on 6p21.1-p12.2 (MGR3; {607498}), 14q21.2-q22.3 (MGR4; {607501}), 19p13 (MGR5; {607508}), 1q31 (MGR6; {607516}), 15q11-q13 (MGR7; {609179}), 5q21 (with or without aura, MGR8, {609570}; with aura, MGR9, {609670}), 17p13 (MGR10; {610208}), 18q12 (MGR11; {610209}), 10q22-q23 (MGR12; {611706}), and the X chromosome (MGR2; {300125}).\n\nMutation in the KCNK18 gene ({613655}) on chromosome 10q25 causes migraine with aura (MGR13; {613656}).\n\nA subtype of autosomal dominant migraine with aura (MA), familial hemiplegic migraine (FHM; see {141500}), is caused by mutation in the CACNA1A gene ({601011}) on chromosome 19p13 (FHM1; {141500}), by mutation in the ATP1A2 gene ({182340}) on chromosome 1q21 (FHM2; {602481}), or by mutation in the SCN1A gene ({182389}) on chromosome 2q24 (FHM3; {609634}). Another locus for FHM has been mapped to chromosome 1q31 (FHM4; see {607516}).\n\nThere is evidence that a polymorphism in the estrogen receptor gene (ESR1; {133430.0005}) and a polymorphism in the TNF gene ({191160.0004}) may confer susceptibility to migraine. A polymorphism in the endothelin receptor type A gene (EDNRA; {131243.0001}) may confer resistance to migraine." +157400,"Multiple eruptive milia (MEM) is a rare condition in which clusters of milia (benign keratinous cysts) develop suddenly on the face and upper trunk (summary by {2:Langley et al., 1997})." +157560,"{2:Jeffreys et al. (1985)} described hypervariable minisatellites which have proved to be useful tools for many studies in human molecular genetics. Two classic minisatellite probes, 33.6 and 33.15 ({157570}), derived from these minisatellite sequences showed a large number (20-30) of highly polymorphic fragments in HinfI digests of human DNA. This extremely polymorphic pattern due to variation in the number of repeats of a 'core' 16-mer sequence allowed the precise identification of a particular individual by his DNA fingerprint. The polymorphic patterns have been used extensively in paternity or sibship testing and in a number of forensic studies. {1:Chimini et al. (1989)} observed a single major hybridization peak when either 33.6 or 33.15 was used for in situ hybridization to human metaphase chromosomes, thus permitting mapping to 1q23 and 7q35-q36, respectively. Furthermore, hybridization to human DNA cleaved with 'rare-cutter' enzymes and fractionated on pulsed field gels also showed a fairly simple, largely monomorphic pattern which allowed chromosomal assignment using somatic cell hybrids. Differences in hybridization stringency and degree of resolution account for most of the discrepancy between these results and the accepted view of minisatellites, i.e., that a large number of unlinked loci are spread over the genome." +157570,"{2:Jeffreys et al. (1985)} described hypervariable minisatellites which have proved to be useful tools for many studies in human molecular genetics. Two classic minisatellite probes, 33.6 ({157560}) and 33.15, derived from these minisatellite sequences showed a large number (20-30) of highly polymorphic fragments in HinfI digests of human DNA. This extremely polymorphic pattern due to variation in the number of repeats of a 'core' 16-mer sequence allowed the precise identification of a particular individual by his DNA fingerprint. The polymorphic patterns have been used extensively in paternity or sibship testing and in a number of forensic studies. {1:Chimini et al. (1989)} observed a single major hybridization peak when either 33.6 or 33.15 was used for in situ hybridization to human metaphase chromosomes, thus permitting mapping to 1q23 and 7q35-q36, respectively. Furthermore, hybridization to human DNA cleaved with 'rare-cutter' enzymes and fractionated on pulsed field gels also showed a fairly simple, largely monomorphic pattern which allowed chromosomal assignment using somatic cell hybrids. Differences in hybridization stringency and degree of resolution account for most of the discrepancy between these results and the accepted view of minisatellites, i.e., that a large number of unlinked loci are spread over the genome." +157600,"Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are occasionally found in normal young children, persistence beyond the age of 10 years is abnormal. Congenital mirror movements tend to persist throughout adulthood and tend to occur more commonly in the upper extremities (summary by {10:Sharafaddinzadeh et al., 2008} and {12:Srour et al., 2010}). Some patients with DCC mutations have agenesis of the corpus callosum ({6:Marsh et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Mirror Movements\n\nSee also MRMV2 ({614508}), caused by mutation in the RAD51 gene ({179617}) on chromosome 15q15; MRMV3 ({606059}), caused by mutation in the DNAL4 gene ({610565}) on chromosome 22q13; and MRMV4 ({618264}), caused by mutation in the NTN1 gene ({601614}) on chromosome 17p13." +157640,"Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({3:Filosto et al., 2003}; {11:Luoma et al., 2004}).\n\nPEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes ({7:Lamantea et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA Deletions\n\nSee also PEOA2 ({609283}), caused by mutation in the ANT1 gene (SLC25A4; {103220}) on chromosome 4q34; PEOA3 ({609286}), caused by mutation in the TWNK gene ({606075}) on chromosome 10q24; PEOA4 ({610131}), caused by mutation in the POLG2 gene ({604983}) on chromosome 17q; PEOA5 ({613077}), caused by mutation in the RRM2B gene ({604712}) on chromosome 8q23; and PEOA6 ({615156}), caused by mutation in the DNA2 gene ({601810}) on chromosome 10q." +157700,"Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP ({14:Freed et al., 1999}; {16:Grau et al., 2007}; {9:Delling and Vasan, 2014}).\n\n{16:Grau et al. (2007)} provided a detailed review of the genetics of mitral valve prolapse. {9:Delling and Vasan (2014)} reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis.\n\n<Subhead> Genetic Heterogeneity of Familial Mitral Valve Prolapse\n\nThe locus for MVP1 has been mapped to chromosome 16p; the locus for MVP2 ({607829}) has been mapped to chromosome 11p.\n\nMitral valve prolapse-3 (MVP3; {610840}) is caused by mutation in the DZIP1 gene ({608671}) on chromosome 13q32." +157800,"Cardiospondylocarpofacial syndrome (CSCF) is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion, extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations (summary by {2:Le Goff et al., 2016})." +157900,"The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported ({43:Verzijl et al., 2003}).\n\nThe definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (HCFP; see {601471}), which is restricted to involvement of the facial nerve and no other abnormalities. {43:Verzijl et al. (2003)} and {44:Verzijl et al. (2005)} concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem.\n\nMoebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by {45:Webb et al., 2012}).\n\n{22:Kumar (1990)} provided a review of Moebius syndrome, which was critiqued by {24:Lipson et al. (1990)}. {7:Briegel (2006)} provided a review of Moebius sequence with special emphasis on neuropsychiatric findings." +157950,"Secondary retention is the cessation of eruption of a tooth after emergence that does not result from a physical barrier in the path of eruption or an abnormal position of the tooth. Permanent molars are less frequently affected than deciduous molars. The major characteristic of a secondarily retained molar is infraocclusion, which may result in malocclusion because of tilting of the neighboring teeth and overeruption of antagonists. The disorder can also result in loss of the retained molar and neighboring teeth due to caries and periodontal disease and in deformation of the facial skeleton ({6:Raghoebar et al., 1992}).\n\nSee also {125350} and {273050} for phenotypes with shared features of secondary retention of permanent molars." +157960,"Moloney leukemia virus, a retrovirus lacking a transforming (onc) gene, induces thymic lymphomas in rats and mice. In rat and mouse thymomas, proviral integration occurs nonrandomly in at least 9 DNA regions. {1:Anagnou et al. (1989)} cloned the human homolog of one of these integration sites, called MLVI2. As an initial step in the investigation of its possible role in the induction and progression of human neoplasms, they studied its map location by use of a panel of human/rodent somatic cell hybrids and in situ hybridization to metaphase chromosomes. They showed that MLVI2 maps to 5p14." +158000,"Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by {24:Zlotogorski et al., 2006}).\n\nAn autosomal recessive form of monilethrix-like congenital hypotrichosis (see {607903}) is caused by mutation in the DSG4 gene ({607892}). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region ({24:Zlotogorski et al., 2006}).\n\nThe term monilethrix derives from the Latin word for necklace and the Greek for hair ({14:Schweizer, 2006})." +158030,"Working at Sloan-Kettering, {1:Rettig et al. (1984)} mapped the loci that code for 2 cell surface glycoproteins defined by monoclonal antibodies. AbAJ9 defined a glycoprotein of 140,000 MW and AbT87 a glycoprotein of 60,000 MW. Both antibodies reacted with a wide variety of cultured human cell types but not with rodent cell lines. The authors termed the loci coding these glycoproteins MSK1 and MSK2 ({158040}), after the usual practice of using the initials of the laboratory. By analysis of rodent-human somatic cell hybrids, MSK1 was assigned to 1p21-cen and MSK2 to 1q41-qter. Because of the lack of reactivity of human red cells, as well as the location of the loci on chromosome 1, they concluded that MSK1 and MSK2 are unrelated to any of the blood groups mapped to no. 1: Rh, Sc, Rd, Fy, Do. Furthermore, tissue distribution, subcellular localization, and biochemical properties as well as regional mapping indicate that they are distinct from enzymes mapped to chromosome 1." +158040,See {158030}. +158050,{1:Pellegrino et al. (1975)} reported a human B-lymphocyte receptor for monkey red blood cells (MRBC). Hybrids between human lymphoid lines and a mouse fibroblast line showed concordant segregation of the MRBC receptor and HLA on chromosome 6. +158100,Monophalangy of the great toes as an isolated hereditary defect was described by {1:Frankel (1871)}. +158105,"Monocyte chemotactic protein-1, a member of the small inducible gene (SIG) family, plays a role in the recruitment of monocytes to sites of injury and infection." +158250,"Chromosomal mosaicism as described here refers to a tendency to chromosomal nondisjunction. See also premature chromatid separation (PCS; {176430}), which may also predispose to chromosomal nondisjunction." +158280,"Although motion sickness is not likely to be mendelian, it appears to show familial aggregation. Hence, the hypothesis of {1:Treisman (1977)} is of interest. The hypothesis is based on the idea that 'motion sickness is triggered by difficulties which arise in the programming of movements of the eyes or head when the relations between the spatial frameworks...are repeatedly and unpredictably perturbed. Such perturbations may be produced by certain types of motion, or by disturbances in sensory input or motor control produced by ingested toxins.' In nature the last would be important. Emesis in response to motion is viewed by this hypothesis as an unfortunate accidental byproduct of the system to get rid of neurotoxins." +158300,"The trismus-pseudocamptodactyly syndrome is a distal arthrogryposis characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volar flexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. In these patients, trismus complicates dental care, feeding during infancy, and intubation for anesthesia, and the pseudocamptodactyly impairs manual dexterity, with consequent occupational and social disability (summary by {14:Veugelers et al., 2004})." +158310,"Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant genodermatosis characterized by onset in infancy of a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Patients develop cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses ({10:Witkop et al., 1982}). Although 1 family was reported to have progressive severe interstitial lung disease ({9:Witkop et al., 1979}), this feature has not been reported in other families and is not considered a criterion for diagnosis. However, the clinical triad of nonscarring alopecia, well-demarcated fiery red mucosa, and psoriasiform perineal involvement has been consistently observed (review by {1:Boralevi et al., 2005})." +158345,"In 4 generations of a family in Germany, {1:Hamann et al. (1992)} observed the combination of multiple exostoses of typical nature ({133700}) in association with spastic tetraparesis. There were no exostoses in the spine or cranium to account for the tetraspastic disorder. The pedigree pattern was consistent with autosomal dominant inheritance. In the second generation, all of 5 sibs were affected. {1:Hamann et al. (1992)} concluded that this represented a new syndrome, although the possibility of a contiguous gene syndrome was considered." +158350,"Cowden syndrome-1 is a hamartomatous disorder characterized by macrocephaly, facial trichilemmomas, acral keratoses, papillomatous papules, and an increased risk for the development of breast, thyroid, and endometrial carcinoma. Bannayan-Riley-Ruvalcaba syndrome (BRRS), previously thought be distinct, shared clinical characteristics with Cowden syndrome, such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms, but had the additional features of developmental delay, macrocephaly, lipomas, hemangiomas, and pigmented speckled macules of the glans penis in males. Because features of BRRS and Cowden syndrome have been found in individuals within the same family with the same PTEN mutation, Cowden syndrome-1 and BRRS are considered to be the same disorder with variable expression and age-related penetrance (summary by {59:Marsh et al., 1999}, {48:Lachlan et al., 2007}, and {9:Blumenthal and Dennis, 2008}).\n\nApproximately 80% of patients reported with Cowden syndrome and 60% with BRSS have PTEN mutations ({9:Blumenthal and Dennis, 2008}).\n\nSome patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by {11:Browning et al., 2015})." +158400,"{3:Van den Berghe et al. (1980)} described a kindred with generalized muscle cramps inherited as an autosomal dominant, with maximal expression during adolescence. The age of onset varied from age 10 to 15 years. Muscle enzymes were elevated with a peak level between 15 and 25 years. The complaints seemed to disappear after age 25 years. EMG and muscle biopsies suggested a neurogenic origin of the cramps. Other similar families were commented on (e.g., {1:Jusic et al., 1972}). {2:Ricker and Moxley (1990)} studied a family in which 16 members of 4 successive generations suffered from painful recurrent muscle cramping. The cramping first developed during adolescence or early adulthood. Electromyographic analysis indicated a neurogenic origin. Dysfunction of motor neurons was postulated. There were several instances of male-to-male transmission." +158500,"In 10 persons in 4 generations, {1:Furukawa et al. (1968)} found muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus. The diabetes was of relatively late onset. The disorder resembled Refsum syndrome ({266500}) except in its mode of inheritance. Several instances of male-to-male transmission were observed." +158580,"Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by {1:Barwick et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; {182960})." +158600,"Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. SMALED shows autosomal dominant inheritance with muscle weakness predominantly affecting the proximal lower extremities ({5:Harms et al., 2010}).\n\nThe most common form of SMA (see, e.g., SMA1, {253300}) shows autosomal recessive inheritance and is due to mutation in the SMN1 gene ({600354}) on chromosome 5q.\n\n<Subhead> Genetic Heterogeneity of Lower Extremity-Predominant Spinal Muscular Atrophy\n\nSee also SMALED2A ({615290}) and SMALED2B ({618291}), both of which are caused by mutation in the BICD2 gene ({609797}) on chromosome 9q22. SMALED2A and SMALED2B differ in age at onset and severity, with SMALED2B being more severe." +158650,{1:Zatz et al. (1971)} described a Brazilian kindred of Italian origin in which 7 members had neurogenic muscular atrophy with an unusually malignant and rapid course. Onset varied from ages 28 to 62 years and death from respiratory paralysis occurred within 1 year. Male-to-male transmission was observed. +158800,"{1:Barnes (1932)} described a family with muscular dystrophy of a type that may be distinct from any of the others presented in these catalogs. The disease had affected many persons in 6 generations of a family, with many instances of male-to-male transmission. The myopathy was exceedingly protean with predominantly pseudohypertrophic or distal character in some patients. In others it could be confused with peroneal atrophy. At least one showed myotonia of some thigh muscles." +158900,"Facioscapulohumeral muscular dystrophy (FSHD) is a progressive skeletal muscle disorder with a highly variable phenotpye. Most patients present as adults, although about 10% show symptoms before the age of 5 years, including from infancy in some cases. In general, the disease initially involves the upper body, including the face and the scapulae, followed by weakness at the foot dorsiflexors and hip girdles. Typical features are striking asymmetry of muscle involvement from side to side and sparing of bulbar extraocular and respiratory muscles. There is significant clinical variability, even within families, as well as incomplete penetrance. FSHD1 accounts for about 95% of patients. Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD; {310200}) and myotonic ({160900}) dystrophy ({81:Tawil et al., 1998}; {94:van den Boogaard et al., 2016}; {30:Johnson and Ankala, 2020}; {72:Schatzl et al., 2021}).\n\n{65:Richards et al. (2012)} and {72:Schatzl et al. (2021)} provided detailed reviews of FSHD, including clinical features, genetics, diagnosis, pathogenesis, and potential therapeutic avenues.\n\n<Subhead> Genetic Heterogeneity of FSHD\n\nSeveral other genetic forms of FSHD that are clinically indistinguishable from FSHD1, but not associated with physical contraction of the D4Z4 microsatellite repeat, have been identified. Historically, these forms have collectively been called 'FSHD2.' Tissue from patients with 'FSHD2' shows D4Z4 hypomethylation on chromosomes 4 and 10, suggesting the presence of unique transactivating factors, some of which have been identified. Genetic forms of FSHD other than FSHD1 account for about 5% of patients overall (summary by {25:Hamanaka et al., 2020}; {30:Johnson and Ankala, 2020}; review by {72:Schatzl et al., 2021}).\n\nFSHD2 ({158901}) is caused by mutation in the SMCHD1 gene ({614982}) on chromosome 18p11; FSHD3 ({619477}) by mutation in the LRIF1 gene ({615354}) on chromosome 1p13; and FSHD4 ({619478}) by mutation in the DMNT3B gene ({602900}) on chromosome 20q11. Patients with FSHD2, FSHD3, and FSHD4 also carry a 'permissive haplotype' on chromosome 4 (4qA) that promotes DUX4 ({606009}) expression. There is significant clinical variability and incomplete penetrance." +158901,"Facioscapulohumeral muscular dystrophy-2 (FSHD2) is a form of muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities. The pattern of weakness is usually asymmetric (summary by {3:Lemmers et al., 2012}).\n\nFor a discussion of genetic heterogeneity of FSHD, see FSHD1 ({158900}), which is associated with physical contraction of D4Z4 macrosatellite repeats (see {606009}) in the subtelomeric region of chromosome 4q35. The pathogenesis of FSHD1 and FSHD2 converge at the level of D4Z4 chromatin relaxation and inappropriate expression of DUX4 in skeletal muscle (summary by {3:Lemmers et al., 2012})." +159050,"{1:Hastings et al. (1980)} described 2 unrelated families, each with father and son with pseudohypertrophic muscular dystrophy. The paternal grandfather in 1 family may have been affected also. The phenotype resembled that of Becker muscular dystrophy ({300376}). The mothers showed no evidence of carrier status, but both fathers had pseudohypertrophic calves and one gave a history of weakness in childhood with subsequent improvement. Muscle histology in all 4 showed changes like those of Becker muscular dystrophy with, in addition, central cores and internalized capillaries in type I fibers. The internalized capillaries were considered unique to this disorder." +159100,"The muscular hypoplasia is congenital and generalized, and little or no progression of muscular weakness occurs. This condition was called muscular infantilism by {2:Gibson (1921)} who observed affected members of 4 generations. {5:Schreier and Huperz (1956)} described cases. {1:Ford (1961)} described affected mother and daughter who were subsequently shown to have nemaline myopathy ({161800}). This suggested that a number of separate conditions will be found to fit the above description. {6:Thurmon (1971)} showed me a father and daughter with universal muscular hypoplasia in whom no specific myopathy such as nemaline myopathy could be identified by special studies. {4:Pelias and Thurmon (1979)} restudied the Louisiana Acadian kindred and found 1 case in each of 2 sibships distantly related to the father and daughter I examined. Thus, there were 4 affected sibships and the parents of each were consanguineous. Autosomal recessive inheritance is likely for the disease in this family. Microscopically, muscle fibers are excessively small with no pathologic changes other than their infantile proportions. {3:Krabbe (1947)} described an isolated case in a 5-year-old Danish boy, and in a follow-up 11 years later he pointed out the nonprogressive nature of the problem." +159300,"Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009})." +159410,"The term 'mydriasis' is used in at least two senses: a state of dilatation of the pupils (see {159420}) and the process by which the pupils become dilated, as in response to a pharmacologic agent. {3:Goldsmith et al. (1977)} used the term in the latter sense in connection with their study of pupillary response to mydriatics in Chile.\n\nHyperreactive mydriasis to atropine is a feature of Down syndrome ({4:Harris and Goodman, 1968})." +159420,"{1:Caccamise and Townes (1976)} described a family in which 8 females in 4 generations showed bilateral congenital mydriasis. Curiously, all females seem to have been affected; e.g., all 4 females, but none of 6 males, were affected in 1 sibship. The pupils showed anomalous responses to pharmacologic agents. Apparently no affected females had had abortions (a point of interest in connection with X-linked dominant inheritance with lethality in the hemizygous male). Chromosome studies were not reported." +159500,"Normally the optic nerve fibers are myelinated only after their passage through the lamina cribrosa. Sometimes, however, the myelin sheath begins sooner, producing a white area near the disc. {1:Francois (1961)} cited a family with 10 cases in 2 generations and a few other instances suggesting dominant inheritance. In a few descriptions the anomaly was limited to 1 sibship. Pseudopapilledema ({177800}) is a distinct condition." +159550,"Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. The germline genetic defect is associated with somatic loss of chromosome 7 (monosomy 7) resulting in the deletion of several genes on chromosome 7 that may predispose to the development of myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) (summary by {1:Chen et al., 2016} and {7:Tesi et al., 2017})." +159580,"A tropical spastic paraparesis associated with antibody titers to human T-lymphotropic virus type 1 in the serum was described in Martinique ({4:Gessain et al., 1985}) and in Jamaica and Colombia ({11:Rodgers-Johnson et al., 1985}); a similar disorder, termed HTLV-1-associated myelopathy, has been found in parts of southwestern Japan, where adult T-cell leukemia/lymphoma (ATLL) is endemic. {10:Osame et al. (1986)} first suggested the entity of HTLV-1-associated myelopathy. {8:Miyai et al. (1987)} described 2 families with multiple cases of HTLV-1-associated myelopathy. Even though ATLL and HAM were observed in the same area of Japan, there were no observations of the disorders in the same family. It is not known whether the virus that causes ATLL is the same as that associated with HAM, although they seem to be morphologically and immunologically similar. It is possible that they are identical and that HTLV1-associated myelopathy is determined by the ATLL-causing virus plus a specific genetic background.\n\n{9:Mori et al. (1988)} described 3 families with slowly progressive spastic paraparesis occurring in a parent and 1 or 2 children. Neurologic examination showed pyramidal signs, with no or mild sensory disturbance. Anti-HTLV-1 antibodies in both serum and CSF were positive, and adult T-cell leukemia-like cells were demonstrated in both peripheral blood and CSF. The patients had previously been diagnosed as having hereditary spastic paraplegia. Proven modes of infection are blood transfusion, sexual contact, and mother-to-child transmission. In 2 of the families, mother-to-child transmission was suspected. In the third family, in which a father and daughter were affected, the mother was also seropositive, suggesting that this may have been a case of mother-to-child transmission also. Transmission by breast milk has been postulated. Since the frequency of HAM among seropositive carriers in Japan is only about 0.03%, genetic factors may play a role in the development of the disorder.\n\n{3:Denic et al. (1988)} reported the first instance of familial ATLL in the United States. The patients were a 63-year-old black man, who was born in South Carolina and was living in Brooklyn, New York, and his 40-year-old daughter, who was born in Brooklyn. Both wives of the father had antibodies against HTLV-1; the second wife had acquired the infection from her husband within 3 years of marriage. {12:Salazar-Grueso et al. (1990)} presented the pedigree of a Paraguayan family in which 4 individuals in 3 successive generations had spastic paraparesis associated with HTLV-1 infection. They suggested that infection by breast milk may have occurred because the affected persons were breastfed by an infected mother and had never received a transfusion and because this route is believed to be a primary one for HTLV-1 transmission in Japan ({1:Ando et al., 1989}). Host factors may explain why some relatives contract the infection whereas others do not. The integration site for the HTLV-1 genome may determine whether there is a nonclonal expansion of peripheral lymphocytes with development of spastic paraparesis or a clonal expansion of lymphocytes leading to T-cell leukemia. In an extensive study of families in Japan, {6:Kajiyama et al. (1986)} found that none of 82 children born to seronegative mothers and seropositive fathers were seropositive. The instance of transmission from husband to wife was 61% over 10 years and from wife to husband, 0.4%. These data strongly suggested that HTLV-1 is transmitted from husband to wife by sexual transmission, and from mother to child. It was unclear whether maternal transmission occurred across the placenta or via breastfeeding. {5:Hollsberg and Hafler (1993)} discussed the pathogenesis of diseases induced by HTLV-1 infection and made reference to the possible operation of genetic factors.\n\n{2:Chironna et al. (1995)} reported that the wife and daughter of a patient with adult T-cell leukemia due to HTLV-1 were HTLV-1 seropositive but clinically normal. The proband came from a small village in Apulia (southeastern Italy), had never received a blood transfusion, and described no risk factors for retroviral infections, such as intravenous drug use." +159595,"Transient myeloproliferative syndrome is a leukemoid reaction that occurs in some newborn infants with Down syndrome and rarely in phenotypically normal infants ({5:Seibel et al., 1984}). In 9 Down syndrome patients with transient myeloproliferative syndrome, {3:Niikawa et al. (1991)} found that the mode of inheritance of centromeric chromosomal markers was compatible with duplication of one parental chromosome 21. Therefore, they proposed a hypothesis of 'disomic homozygosity' of a mutant gene on chromosome 21 as the causative mechanism ({1:Abe et al., 1989}). {3:Niikawa et al. (1991)} observed a Down syndrome patient who had an inversion of one chromosome 21; by studies with DNA polymorphic markers in 5 other patients, they obtained results suggesting that the putative gene (which they symbolized TMS) was located at 21q11.2.\n\nCytogenetic and molecular studies demonstrated that in Down syndrome associated with transient abnormal myelopoiesis, trisomy 21 had arisen much more frequently through mitotic (or meiosis II) nondisjunctions than through meiosis I errors ({6:Shen et al., 1995}). This supported the notion of 'disomic homozygosity' of a certain locus on chromosome 21 in 21-trisomic cells. In these patients there was no evidence of maternal age effect ({2:Iselius et al., 1990}). Like {3:Niikawa et al. (1991)}, {6:Shen et al. (1995)} mapped the putative TAM gene to the pericentromeric region, 21q11.1-q11.2. In the 7-day-old male with Down syndrome and TAM reported by {3:Niikawa et al. (1991)}, {4:Ohta et al. (1996)} isolated a cosmid clone corresponding to the inv(21) breakpoint, on the presumption that in this patient the putative TAM gene was disrupted by the break. The mother had the same inversion, and the father had a normal karyotype. The leukemoid reaction disappeared spontaneously several months after birth. {4:Ohta et al. (1996)} noted there was no evidence of imprinting on chromosome 21; thus, they speculated that disruption of a putative TAM gene may be the basis of the abnormality. The existence of a fusion gene is unlikely because almost no cases of TAM in Down syndrome had been reported with a rearranged chromosome 21 such as was observed in this critical case." +159600,"This form appears to be distinct from the two types that are inherited as autosomal recessives ({254780}, {254800}). Unlike those forms, no Lafora bodies were found at autopsy and only diffuse atrophy was present." +159900,"Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal muscles. Dystonia, usually torticollis or writer's cramp, is observed in most patients, but occasionally can be the only symptom of the disorder. Onset of the disorder is usually in the first or second decade. Symptoms often respond to alcohol, and patients may also have psychiatric abnormalities ({42:Valente et al., 2003}; {38:Schule et al., 2004})." +159950,"Spinal muscular atrophy with progressive myoclonic epilepsy is an autosomal recessive neuromuscular disorder characterized by childhood onset of proximal muscle weakness and generalized muscular atrophy due to degeneration of spinal motor neurons, followed by the onset of myoclonic seizures. The disorder is progressive, and usually results in loss of ambulation and early death from respiratory insufficiency (summary by {4:Zhou et al., 2012})." +160120,"Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia ({13:Jen et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Episodic Ataxia\n\nEpisodic ataxia is a genetically heterogeneous disorder. See also EA2 ({108500}), caused by mutation in the CACNA1A gene ({601011}) on chromosome 19p13; EA3 ({606554}), which maps to chromosome 1q42; EA4 ({606552}); EA5, caused by mutation in the CACNB4 gene ({601949}) on chromosome 2q22-q23; EA6 ({612656}), caused by mutation in the SLC1A3 gene ({600111}) on chromosome 5p13; EA7 ({611907}), which maps to chromosome 19q13; EA8 ({616055}), which maps to chromosome 1p36-p34; and EA9 ({618924}), caused by mutation in the SCN2A gene ({182390}) on chromosome 2q24.\n\nIsolated myokymia-2 (see {121200}) is associated with mutation in the KCNQ2 gene ({602235})." +160150,"Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting. The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers (summary by {4:Bitoun et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Centronuclear Myopathy\n\nCentronuclear myopathy is a genetically heterogeneous disorder. See also X-linked CNM (CNMX; {310400}), caused by mutation in the MTM1 gene ({300415}) on chromosome Xq28; CNM2 ({255200}), caused by mutation in the BIN1 gene ({601248}) on chromosome 2q14; CNM4 ({614807}), caused by mutation in the CCDC78 gene ({614666}) on chromosome 16p13; CNM5 ({615959}), caused by mutation in the SPEG gene ({615950}) on chromosome 2q35; and CNM6 ({617760}), caused by mutation in the ZAK gene ({609479}) on chromosome 2q31.\n\nThe mutation in the MYF6 gene that was reported to cause a form of CNM, formerly designated CNM3, has been reclassified as a variant of unknown significance; see {159991.0001}.\n\nSome patients with mutation in the RYR1 gene ({180901}) have findings of centronuclear myopathy on skeletal muscle biopsy (see {255320})." +160565,"Tubular aggregates in muscle, first described by {4:Engel (1964)}, are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum ({10:Salviati et al., 1985}) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis ({6:Martin et al., 1997}; {7:Muller et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Tubular Aggregate Myopathy\n\nSee also TAM2 ({615883}), caused by mutation in the ORAI1 gene ({610277}) on chromosome 12q24." +160700,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {9:Kaiser et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Myopia\n\nMYP2 maps to chromosome 18p. Other myopia loci include MYP1 ({310460}) on Xq28; MYP3 ({603221}) on 12q21-q23; MYP5 ({608474}) on 17q21-q22; MYP6 ({608908}), caused by mutation in the SCO2 gene ({602474}) on 22q13; MYP7 ({609256}) on 11p13; MYP8 ({609257}) on 3q26; MYP9 ({609258}) on 4q12; MYP10 ({609259}) on 8p23; MYP11 ({609994}) on 4q22-q27; MYP12 ({609995}) on 2q37.1; MYP13 ({300613}) on Xq23-q27; MYP14 ({610320}) on 1p36; MYP15 ({612717}) on 10q21.1; MYP16 ({612554}) on 5p15.33-p15.2; MYP17 (formerly MYP4) ({608367}) on 7p15; MYP18 ({255500}) on chromosome 14q22-q24; MYP19 ({613969}) on 5p15.1-p13.3; MYP20 ({614166}) on 13q12.12; MYP21 ({614167}), caused by mutation in the ZNF644 gene ({614159}) on 1p22; MYP22 ({615420}), caused by mutation in the CCDC111 gene ({615421}) on 4q35; MYP23 ({615431}), caused by mutation in the LRPAP1 gene ({104225}) on 4p16; MYP24 ({615946}), caused by mutation in the SLC39A5 gene ({608730}) on 12q13; MYP25 ({617238}), caused by mutation in the P4HA2 gene ({600608}) on 5q31; MYP26 ({301010}), caused by mutation in the ARR3 gene ({301770}) on Xq13; MYP27 ({618827}), caused by mutation in the CPSF1 gene ({606027}) on 8q24; and MYP28 ({619781}), caused by mutation in the LOXL3 gene ({607163}) on 2p13." +160800,"Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction ({27:Sun et al., 2001}). Thomsen disease is less common and less severe than Becker disease.\n\nSee also paramyotonia congenita (PMC; {168300}) and potassium-aggravated myotonia ({608390}), overlapping phenotypes caused by mutations in the SCN4A gene ({603967})." +160900,"Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with onset at birth can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time ({178:Musova et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Myotonic Dystrophy\n\nSee also myotonic dystrophy-2 (DM2; {602668}), which is caused by mutation in the ZNF9 gene ({116955}) on chromosome 3q21." +160980,"Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS; {174800}), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS; {175200}). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas ({17:Kirschner et al., 2000}; {34:Stratakis et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Carney Complex\n\nCarney complex type 2 (CNC2; {605244}) has been mapped to chromosome 2p16, indicating genetic heterogeneity.\n\nSee also isolated primary pigmented nodular adrenocortical disease (PPNAD1; {610489}) and isolated cardiac myxoma ({255960}), both of which are manifestations of the Carney complex that can be seen in isolation.\n\nA family with features of the Carney complex and distal arthrogryposis ({608837}) associated with a mutation in the MYH8 gene ({160741}) has also been reported." +160990,"In a mother and 2 of her children, a son and daughter, {1:Bove et al. (1980)} observed percussion myotonia without weak or wasted skeletal muscles. Electron microscopic studies showed that 2 of them had cylindrical spirals, 8 microns long and 1 micron wide, composed of spiraling double-laminate membrane resembling myelin. The cylinders were derived from abnormal subsarcolemmal tubulovesicular structures that were interpreted as pathologic T-tubes. Muscle cramps, stiffness, posteffort muscle tightness, myotonic lid lag, and the cylinders appeared or progressed with age, but the disorder was asymptomatic in the children and only mildly incapacitating in the mother." +161050,"Many types of nonsyndromic congenital nail disorders (NDNC) have been described. Twenty-nail dystrophy (TND), also known as trachyonychia (from the Greek for 'rough nails'), is an autosomal dominant nail dystrophy characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough sandpaper-like appearance. Occasionally some nails are spared. The slowly progressive condition is usually apparent at birth and may be self-limiting, with spontaneous resolution in some patients (summary by {9:Sehgal, 2007}). TND is referred to here as nonsyndromic congenital nail disorder-1 (NDNC1).\n\n<Subhead> Genetic Heterogeneity of Nonsyndromic Congenital Nail Disorders\n\nOther nonsyndromic congenital nail disorders include koilonychia (NDNC2; {149300}); leukonychia (NDNC3; {151600}) caused by mutation in the PLCD1 gene ({602142}) on chromosome 3p22; anonychia/hyponychia (NDNC4; {206800}) caused by mutation in the RSPO4 gene ({610673}) on chromosome 20p13; partial onycholysis with scleronychia (NDNC5; {164800}); anonychia of thumbs with onychodystrophy of other nails (NDNC6; {107000}); onychodystrophy mapping to chromosome 17p13 (NDNC7; {605779}); toenail dystrophy (NDNC8; {607523}) caused by mutation in the COL7A1 gene ({120120}) on chromosome 3p21; onychodystrophy mapping to chromosome 17q25.1-q25.3 (NDNC9; {614149})." +161070,"{1:Marshall (1980)} studied the proteins of human nails and found genetic variation in both the low-sulfur and the high-sulfur protein fractions. (The low-sulfur proteins of hair have been found to show genetic variation ({139350}) and presumably a correlation exists between nails and hair.) {1:Marshall (1980)} observed families in which both the low-sulfur and the high-sulfur variants were segregating and other families with only the high-sulfur variant segregating. Conclusions as to inheritance seem impossible. Indeed, the author concluded that the peptide maps of the additional proteins present as variants differed so much in amino acid sequence that a structural gene mutation could not be responsible." +161080,See {161070}. +161100,"Pigmented nailbeds occur in a certain proportion of Blacks. The pigmentation may be confused with cyanosis or may make evaluation of cyanosis difficult. Dark pigmentation of the nailbeds was correlated with pigmentation of fungiform papillae of the tongue ({275250}) in a Black family studied by {1:Norum (1974)}. The teenage brother and sister also had black cerumen and an unexplained history of black staining of diapers as infants. Apocrine chromidrosis ({2:Shelley and Hurley, 1954}) has no known familial basis. It is not certain that apocrine chromidrosis was present in sibs reported by {1:Norum (1974)}." +161200,"Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by developmental defects of dorsal limb structures, the kidney, and the eye, manifested by nail dysplasia, patellar abnormalities, elbow dysplasia, iliac horns, nephropathy, and glaucoma, respectively (summary by {4:Bongers et al., 2005})." +161400,"{1:Adie (1926)} first delineated narcolepsy as a separate and specific entity. It is a sleep disorder characterized by attacks of disabling daytime drowsiness and low alertness. The normal physiologic components of rapid eye movement (REM) sleep, dreaming and loss of muscle tone, are separated and also occur while the subject is awake, resulting in half-sleep dreams and episodes of skeletal muscle paralysis and atonia (cataplexy and sleep paralysis). Unlike normal sleep, that of narcolepsy often begins with REM activity and the time taken to fall asleep is shorter than normal.\n\nIn contrast to animal models, human narcolepsy is not a simple genetic disorder. Most human cases of narcolepsy are sporadic and carry a specific HLA haplotype ({37:Peyron et al., 2000}). Familial cases are the exception rather than the rule, and monozygotic twins show only partial concordance (25 to 31%) ({31:Mignot, 1998}).\n\n<Subhead> Genetic Heterogeneity of Narcolepsy\n\nAdditional narcolepsy loci have been mapped to chromosomes 4 (NRCLP2; {605841}), 21q (NRCLP3; {609039}), 22q13 (NRCLP4; {612417}), 14q11 (NRCLP5; {612851}), and 19p13.2 (NRCLP6; {614223}). NRCLP7 ({614250}) is caused by mutation in the MOG gene ({159465}) on chromosome 6p22. Resistance to narcolepsy is associated with minor alleles of a SNP and a marker in the NLC1A gene ({610259}) on chromosome 21q22." +161470,"{1:Cole et al. (1992)} described a 47-year-old woman with progressive bilateral collapse of the alae nasi first noted at age 16 years. Her dizygotic twin daughters had similar nasal collapse beginning at age 20 years. Reports of bilateral and unilateral alar indentation or collapse were found in the plastic surgical literature (e.g., {2:Juri et al., 1988}), but none of the cases was familial. Although surgical correction appeared to be successful in the reported cases, the progressive nature of the nasal collapse in their family prompted {1:Cole et al. (1992)} to express caution concerning plastic surgery for the condition they were describing." +161500,This is a red furrow which extends across the nose just proximal to the alae nasi. It is usually noticed early in childhood and at that stage may have a rose color. {1:Anderson (1961)} observed 2 extensively affected families. An instance of male-to-male transmission occurred in one. +161530,"{1:Pierce and Teneyck (1974)} described a black family in which a transverse nasal line of hyperpigmentation was transmitted as a seeming autosomal dominant with male-to-male passage. In none of the affected persons was there a crease, groove or wrinkle such as that described in entry {161500}. The family showed independent inheritance of a midtrunk longitudinal line of hyperpigmentation running from the xiphoid to the symphysis pubis." +161550,"Nasopharyngeal carcinoma is a multifactorial malignancy associated with both genetic and environmental factors. The cancer arises from the epithelium of the nasopharynx (summary by {6:Tse et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 ({607107})." +161600,"The accessory navicular bone has been classified into 3 types: type 1 is a small sesamoid bone embedded within the distal portion of the posterior tibial tendon; type 2 is an accessory bone united to the navicular by a 1- to 3-mm thick synchondrosis; and type 3 is a fused form of type 2. Types 1 and 2 comprise 70% of all cases and are usually involved when symptoms are reported ({5:Ray and Goldberg, 1983})." +161800,"Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles ({17:Ilkovski et al., 2001}). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease ({31:North et al., 1997}; {53:Wallgren-Pettersson et al., 1999}; {37:Ryan et al., 2001}; {38:Sanoudou and Beggs, 2001}). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease ({53:Wallgren-Pettersson et al., 1999}; {38:Sanoudou and Beggs, 2001}).\n\nMyopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors ({32:Nowak et al., 1999}; {23:Kaindl et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Nemaline Myopathy\n\nSee also NEM1 ({609284}), caused by mutation in the tropomyosin-3 gene (TPM3; {191030}) on chromosome 1q22; NEM2 ({256030}), caused by mutation in the nebulin gene (NEB; {161650}) on chromosome 2q23; NEM4 ({609285}), caused by mutation in the beta-tropomyosin gene (TPM2; {190990}) on chromosome 9p13; NEM5 ({605355}), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1; {191041}) on chromosome 19q13; NEM6 ({609273}), caused by mutation in the KBTBD13 gene ({613727}) on chromosome 15q22; NEM7 ({610687}), caused by mutation in the cofilin-2 gene (CFL2; {601443}) on chromosome 14q13; NEM8 ({615348}), caused by mutation in the KLHL40 gene ({615340}), on chromosome 3p22; NEM9 ({615731}), caused by mutation in the KLHL41 gene ({607701}) on chromosome 2q31; NEM10 ({616165}), caused by mutation in the LMOD3 gene ({616112}) on chromosome 3p14; and NEM11 ({617336}), caused by mutation in the MYPN gene ({608517}) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments ({38:Sanoudou and Beggs, 2001}).\n\nMutations in the NEB gene are the most common cause of nemaline myopathy ({25:Lehtokari et al., 2006})." +161950,"End-stage renal disease (ESRD) is a major public health problem, affecting 1 in 1,000 individuals and with an annual death rate of 20% despite dialysis treatment. IgA nephropathy (IgAN) is the most common form of glomerulonephritis, a principal cause of ESRD worldwide, affecting up to 1.3% of the population. Kidneys of patients with IgA nephropathy show deposits of IgA-containing immune complexes with proliferation of the glomerular mesangium. Typical clinical features include onset before age 40 with hematuria and proteinuria, and episodes of gross hematuria following mucosal infections are common; 30% of patients develop progressive renal failure. Although not generally considered a hereditary disease, striking ethnic variation in prevalence ({19:Julian et al., 1985}; {11:D'Amico, 1987}) and familial clustering ({28:Scolari et al., 1999}), along with subclinical renal abnormalities among relatives of cases, suggest a genetic component ({14:Gharavi et al., 2000}).\n\n<Subhead> Genetic Heterogeneity of IgA Nephropathy\n\nA locus for familial IgA nephropathy, called IGAN1, on chromosome 6q22-q23, was described by {14:Gharavi et al. (2000)}. Another locus, IGAN2 ({613944}), was identified by {25:Paterson et al. (2007)} on chromosome 2q36. IGAN3 ({616818}) is caused by mutation in the SPRY2 gene ({602466}) on chromosome 13q31.\n\nPolymorphisms in the ACE ({106180}) and AGT ({106150}) genes have been associated with progression to chronic renal failure in patients with IgA nephropathy." +162000,"Autosomal dominant tubulointerstitial kidney disease-1 (ADTKD1) is an adult-onset slowly progressive renal disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure. Some patients may develop gouty arthritis, arterial hypertension, polydipsia/polyuria, or mild proteinuria. The onset of symptoms is usually in the third or fourth decade, although earlier and later onset have been reported. Renal ultrasound may show small or hyperechogenic kidneys. Renal biopsy shows variable abnormalities, including tubular atrophy, interstitial fibrosis, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. The median age at onset of end-stage renal disease (ESRD) is 56 years (range 50-65). There is significant inter- and intrafamilial variability, as well as incomplete penetrance, which hampers diagnosis (summary by {9:Hart et al., 2002}, {1:Ayasreh et al., 2018}, and {6:Devuyst et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Tubulointerstitial Kidney Disease\n\nADTKD2 ({174000}) is caused by mutation in the MUC1 gene ({158340}) on chromosome 1q22; ADTKD3 ({137920}) is caused by mutation in the HNF1B gene ({189907}) on chromosome 17q12; ADTKD4 ({613092}) is caused by mutation in the renin gene (REN; {179820}) on chromosome 1q32; and ADTKD5 ({617056}) is caused by mutation in the SEC61A1 gene ({609213}) on chromosome 3q21.\n\nSee {614227} for a possibly distinct form of ADTKD tentatively mapped to chromosome 2p22.1-p21." +162080,"The neural retina leucine zipper (NRL), a basic motif-leucine zipper (bZIP) transcription factor of the Maf- subfamily, is a phosphorylated protein that is specifically expressed in rod photoreceptors and pineal gland, but not in cones or other cell types. NRL is required for rod photoreceptor differentiation during retinal development (summary by {10:Kanda et al., 2007})." +162091,"Schwannomatosis, also known as neurilemmomatosis, first reported by {13:Niimura (1973)} as neurofibromatosis type 3, is characterized by multiple cutaneous neurilemmomas and spinal schwannomas, without acoustic tumors or other signs of neurofibromatosis I (NF1; {162200}) or neurofibromatosis II (NF2; {101000}). In neurilemmomas, the tumor consists of Schwann cells. Some patients may develop meningiomas ({18:van den Munckhof et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Schwannomatosis\n\nSee also schwannomatosis-2 ({615670}), conferred by germline heterozygous mutation in the LZTR1 gene ({600574}) on chromosome 22q11.\n\nIndividual schwannoma tumors from patients with schwannomatosis have been found to harbor somatic mutations in SMARCB1 or the neurofibromin-2 gene (NF2; {607379})." +162100,"Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm." +162200,"Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by {230:Shen et al., 1996} and {286:Williams et al., 2009}).\n\nType II neurofibromatosis (NF2; {101000}) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2; {607379}) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas ({205:Rouleau et al., 1993}).\n\nSome patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (see MMRCS1, {276300}), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by {282:Wang et al. (2003)} suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.\n\nSee also Legius syndrome ({611431}), a genetically distinct disorder with a similar phenotype to NF1." +162210,"Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1; {162200}), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by {2:Burkitt Wright et al., 2013})." +162240,"From their own experience and from the literature, {1:Griffiths et al. (1983)} collected 3 patients with duodenal carcinoid tumor in association with neurofibromatosis and pheochromocytoma and 4 patients with duodenal carcinoid with either von Recklinghausen disease or pheochromocytoma. The duodenal carcinoids had an unusual morphology. They reacted only weakly to normal silver impregnation techniques and had an unusual glandular pattern, and 3 of them contained psammoma bodies. Three were strongly positive on immunolocalization with an antibody to somatostatin (which stains normal pancreatic D cells). {1:Griffiths et al. (1983)} suggested that neurofibromatosis, pheochromocytoma, and duodenal carcinoid constitute a distinct and specific multiple endocrine neoplasia syndrome. They suggested that it might be termed MEN IIIa, with MEN IIIb being assigned to the von Hippel-Lindau syndrome ({193300}) with pheochromocytoma and islet cell tumors. In only 1 of the cases was the neurofibromatosis familial. It appears that the cutaneous involvement was typical of von Recklinghausen disease ({162200}) in all the cases. Obstructive jaundice (due to the duodenal carcinoid) was the manner of clinical presentation in 2 of the cases. Symptoms of somatostatin secretion by the carcinoid were not observed." +162270,"{1:Riccardi (1982)} described cases of neurofibromatosis that are sufficiently variant that they seem to warrant separation from the classic von Recklinghausen NF I ({162200}), the acoustic neuroma type, NF II ({101000}), and the mixed type, NF III ({162260}). The group still is undoubtedly heterogeneous. Iris Lisch nodules, one of the most specific features of NF I, are usually absent in NF IV. The importance of a separate category for these cases is related to the probable difference in prognosis and genetic counseling and the desirability of avoiding confusion of studies of the natural history and pathogenesis of NF I." +162300,"Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by {34:Morrison and Nevin, 1996}).\n\nFor a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 ({131100})." +162350,"Neuronal ceroid lipofuscinosis-4 (CLN4) is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, {204200}). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by {2:Benitez et al., 2011} and {13:Velinov et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730})." +162380,"{1:Rechthand et al. (1983)} described mother and 3 sons with sensorimotor neuropathy combined with upper motor neuron, visual pathway and autonomic disorders. The proband, aged 42 years, had progressive distal weakness and muscle atrophy beginning in adolescence and affecting the legs more than the arms. The mother was confined to a wheel chair. Sensation in all modalities was diminished in a stocking distribution. Tendon reflexes were absent and toes were upgoing. The proband's father was not seen. Since the parents were third cousins, pseudodominance of a recessive disorder is possible. Two brothers of the proband had long histories of progressive distal weakness and muscle atrophy. Four other brothers and 2 sisters were normal." +162400,"Hereditary sensory and autonomic neuropathy type IA (HSAN1A) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic (summary by {31:Rotthier et al., 2010} and {18:Gantner et al., 2019}). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits ({16:Fridman et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Sensory and Autonomic Neuropathy\n\nSee also HSAN1C ({613640}), caused by mutation in the SPTLC2 gene ({605713}) on 14q24; HSN1D ({613708}), caused by mutation in the ATL1 gene ({606439}) on 14q22; HSN1E ({614116}), caused by mutation in the DNMT1 gene ({126375}) on 19p13; HSN1F ({615632}), caused by mutation in the ATL3 gene ({609369}) on 11q13; HSAN2A ({201300}), caused by mutation in the HSN2 isoform of the WNK1 gene ({605232}) on 12p13; HSAN2B ({613115}), caused by mutation in the FAM134B gene ({613114}) on 5p15; HSN2C ({614213}), caused by mutation in the KIF1A gene ({601255}) on 2q37; HSAN2D (see {243000}), caused by mutation in the SCN9A gene ({603415}) on 2q24; HSAN3 ({223900}), caused by mutation in the ELP1 gene ({603722}) on 9q31; HSAN4 ({256800}), caused by mutation in the NTRK1 gene ({191315}) on 1q23; HSAN5 ({608654}), caused by mutation in the NGF gene ({162030}) on 1p13; HSAN6 ({614653}), caused by mutation in the DST gene ({113810}) on 6p12; HSAN7 ({615548}), caused by mutation in the SCN11A gene ({604385}) on 3p22; and HSAN8 ({616488}), caused by mutation in the PRDM12 gene ({616458}) on chromosome 9q34.\n\nAdult-onset HSAN with anosmia ({608720}) may be another distinct form of HSAN, and HSAN1B ({608088}) with cough and gastroesophageal reflux maps to chromosome 3p24-p22." +162600,"{1:Gibberd and Gavrilescu (1966)} described a family in which 4 persons in 3 generations had a progressive hypertrophic polyneuritis associated with an abnormal protein in serum, cerebrospinal fluid and urine. Motor and sensory changes began at about age 50 years. Nerve conduction velocity was delayed. Sural nerve on biopsy showed marked demyelination with Schwann cell proliferation. The total spinal fluid protein was only slightly increased." +162700,"{8:Hitzig (1959)} reported an autosomal dominant form of chronic familial neutropenia. The father, aged 36, a son, aged 8, and a daughter, aged 4, were affected. The blood and marrow findings were similar to those in severe congenital neutropenia ({202700}), but severe infections were not a feature.\n\n{14:Levine (1959)} described an affected 14.5-year-old-boy who also showed hyperplastic gingivitis. The father and 2 sibs also had chronic neutropenia. Clubbing of the fingers and hyperglobulinemia were other features. {13:Kirstila et al. (1993)} gave a detailed account of the periodontal disease in 3 sibs with neutropenia. The mother had been diagnosed as having neutropenia during her first pregnancy when she was 30 years of age. She had a long history of infections in childhood and adolescence, including recurrent oral ulcerations and severe periodontitis, which led to the loss of all teeth by the age of 22.\n\n{3:Cutting and Lang (1964)} observed 9 cases of benign chronic neutropenia in 3 generations of a family. The neutropenia was constant. Neutrophil counts returned to normal in adults, but one such person showed the same defect as in children, i.e., reduction in the mitotic pool of neutrophil precursors and in committed stem cells of marrow.\n\n{4:Dale et al. (1979)} reported a family in which 11 members in 3 generations had chronic neutropenia.\n\nIn Israel, {5:Djaldetti et al. (1961)} collected 11 Jewish families from Yemen with familial neutropenia. {6:Feinaro and Alkan (1968)} found 16 Yemenite Jewish persons with neutropenia among 780. Neutropenia was found in 80 of 104 relatives of these 16 persons. No neutrophilia, shift to the left, or morphologic change occurred with intercurrent infection. Eosinophilia was present in 33 of the 80 neutropenics. {1:Berrebi et al. (1987)} found a high frequency of leukopenia in Ethiopian Jews and presented evidence of autosomal dominant inheritance.\n\n{7:Forbes et al. (1941)} noted that neutrophil counts in healthy black sharecroppers in Mississippi were lower than those of white workers living under the same conditions. That black Americans have mean neutrophil counts lower than those of white Americans has been confirmed by {2:Broun et al. (1966)}, {12:Karayalcin et al. (1972)}, {17:Orfanakis et al. (1970)}, {19:Shaper and Lewis (1971)}, and others. {15:Mason et al. (1979)} tested bone marrow granulocyte reserves of 9 black patients with 'benign' neutropenia by measuring the maximum neutrophil increment after the administration of hydrocortisone. They found significantly less increment in these black patients than in control subjects. The black patients studied had neutrophil counts below 2,000 per microliter. Bone marrow aspirates in 4 patients showed normal cellularity and myeloid maturation. {4:Dale et al. (1979)} stated that lower neutrophil counts in African and American blacks and in Yemenite Jews are of little or no clinical consequence.\n\n{9:Holmes and Thompson (1988)} reported affected mother and daughter who also had a fragile site at 10q25.\n\nIn an admixture study, {16:Nalls et al. (2008)} investigated the observation that African Americans have a lower white blood cell count than European Americans. Within a strongly associated locus on chromosome 1q, the strongest association was with a marker known to affect the expression of the Duffy blood group antigen ({110700.0002}). This variant confers complete protection from Plasmodium vivax infection. Participants who had both copies of the common West African allele had a mean WBC of 4.9 (standard deviation 1.3); participants who had both common European alleles had a mean WBC of 7.1 (standard deviation 1.3). This variant explained approximately 20% of population variation in WBC." +162800,"Cyclic neutropenia is a rare disease characterized by regular 21-day cyclic fluctuations in the number of blood neutrophils, monocytes, eosinophils, lymphocytes, platelets, and reticulocytes. The recurrent severe neutropenia causes patients to experience periodic symptoms of fever, malaise, mucosal ulcers, and, rarely, life-threatening infections. The disease occurs both as a congenital disorder and in an acquired form, with essentially identical phenotypic presentations (summary by {14:Migliaccio et al., 1990})." +162900,"Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin ({10:Paller et al., 1994}).\n\nA rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, {113800}), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK ({10:Paller et al., 1994}).\n\nWoolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by {11:Ramot and Zlotogorski, 2015}).\n\nNevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by {2:Groesser et al., 2012}).\n\nAlso see giant pigmented hairy nevus ({137550}) and malignant melanoma ({155600})." +163000,"Capillary malformations are a form of vascular malformation that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas ({602089}), which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity ({12:Spring and Bentz, 2005}; {4:Legiehn and Heran, 2006})." +163050,"This form of nevus, which consists of a patch of pale skin of normal texture, usually on the trunk, was described by {1:Cardoso et al. (1975)} in 4 generations of a family in a pedigree pattern consistent with autosomal dominant inheritance with reduced penetrance." +163100,"Nevus flammeus nuchae ('stork bite' in common parlance) occurs in about 5% of persons. Sometimes called port-wine stains, these consist of a faint, nonelevated, red area of variable size and irregular outline on the nape of the neck. Unlike the frequent 'port-wine stains' of the forehead ({163000}), this is a persistent type of hemangioma. An extensive pedigree demonstrating dominant inheritance was published by {7:Zumkeller (1957)}. {6:Sklarz (1955)} questioned the significance of genetic factors. However, {5:Shafar and Doig (1955)}, like {7:Zumkeller (1957)} and others, insisted on a genetic basis. {2:Merlob and Reisner (1985)} described a family in which nevus flammeus of both the forehead and the nape of the neck occurred in a mother and 2 daughters, while her son and her mother showed only nevus flammeus of the forehead. {4:Pasyk (1992)} made a distinction between medial telangiectatic nevus (MTN), also known as salmon patch, angel's kiss, and stork bite, and lateral telangiectatic nevus (LTN), more popularly called port-wine stain or nevus flammeus. Whereas MTN is a frequent finding in newborns, LTN is relatively rare and usually persists throughout life. Both types show mature, ectatic capillaries with flat endothelium in the dermis, primarily in the superficial plexus. In the case of MTN, however, there appears to be a defect in maturation of cutaneous sympathetic innervation. In LTN, loss of peripheral nervous elements in the perivascular region is associated with reduced vasoactive responses to both vasodilating and vasoconstricting stimuli. {4:Pasyk (1992)} described 2 families with the lateral type of telangiectatic nevi in various locations of the body. There was male-to-male transmission in 1 family. Reports of MTN in multiple members of families were also noted." +163200,"Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by {13:Happle, 1991} and {7:Ernst et al., 2007}). The linear sebaceous nevi follow the lines of Blaschko ({17:Hornstein and Knickenberg, 1974}; {5:Bouwes Bavinck and van de Kamp, 1985}). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism ({10:Gorlin et al., 2001})." +163700,"Rather extensive literature supporting dominant inheritance was reviewed by {2:Gates (1946)}. {7:Klinkerfuss (1924)} found polymastia in 5 females in 4 generations. The extra breast consisted of a mass in one or both axillae which enlarged in pregnancy and lactation. In some, a nipple was associated with the adventitious breast tissue. It may have communicated with the main breast tissue because it swelled before nursing and shrunk with nursing. Pierre {9:Marie (1893)} also observed supernumerary breasts in 4 generations and noted an association with twinning. {16:Weinberg and Motulsky (1976)} reported a kindred in which 6 adult females in 2 generations showed bilateral accessory axillary breast without nipples or areolae. They concluded that the anomaly is probably caused by an autosomal dominant gene of variable expressivity which prevents normal regression of the embryonal mammary bridge. Without areolae or nipples, the trait is usually not detectable in prepubertal females and in males of all ages. {8:Leung (1988)} reported supernumerary nipples in a Chinese man and his identical twin daughters. The supernumerary nipples were situated below the normal nipples, which is usually the case in Caucasians. In Japanese women, according to {6:Iwai (1907)}, 82% of instances of supernumerary nipples show a location above the normal breasts. An association with renal anomalies has been suggested ({10:Meggyessy and Mehes, 1987}). {11:Rintala and Norio (1982)} reported dysplastic divided nipples (intraareolar polythelia) bilaterally in a mother, her 2 daughters, and 1 son. By selective breeding in sheep, Alexander Graham {1:Bell (1898)} succeeded in producing 2 to 4 accessory nipples in 90% of the offspring. In the guinea pig this trait behaves as an autosomal dominant ({3:Goertzen and Ibsen, 1951}).\n\n{13:Toumbis-Ioannou and Cohen (1994)} described polythelia in 3 sibs, 2 sisters and a brother. They tabulated reports of same in the English language literature starting with that by {6:Iwai (1907)}. Multigeneration involvement was the rule. {14:Urbani and Betti (1995)} claimed that there is an association between familial polythelia and kidney and urinary tract malformations. In a subsequent report, {15:Urbani and Betti (1997)} reported an association between supernumerary nipples and Becker nevus (see {604919}). They suggested this observation may be explained by the concept of paradominant inheritance proposed by {4:Happle (1992)} for Becker nevus. The idea of paradominant inheritance as described by {4:Happle (1992)} is that heterozygous gene carriers are usually phenotypically normal, and consequently the altered gene can be transmitted through multiple generations without phenotypic manifestation. Only when a somatic mutation occurs, resulting in a mosaic patch of cells homozygous for the mutation (or hemizygous), does a trait become evident.\n\n{12:Schmidt (1998)} studied the prevalence, size, and predilections for sex and side of supernumerary nipples in a prospective clinical study. Of 502 individuals, 28 (5.6%) exhibited a supernumerary nipple, which was classified as small (areola only, diameter less than 30% of normal) in 21 persons and middle-sized (30 to 50% of normal) in 7 persons. The male/female ratio was 20 to 8 and the left/right side ratio was 15 to 7 in males and 5 to 4 in females. In 40% of individuals, one of the parents confirmed the presence of a supernumerary nipple. None of the 28 had a history of urinary tract infection or suspected urinary tract malformation.\n\n{5:Hundleby and Beighton (2007)} described a South African woman with bilateral duplication of the nipples and areolae in an apparently horizontal plane without mammary tissue reduplication. The authors stated that this configuration of breast tissue had not previously been described. The family history was negative for any abnormalities of the breasts." +163850,"{2:Selmanowitz et al. (1970)} suggested that fibrosis is associated with hydronephrosis and urinary tract abnormalities on a familial basis. They reported a single case, a 44-year-old woman with multiple nodules on the legs and two elsewhere and a double collecting system of the right kidney. {1:Gelfarb and Hyman (1962)} described mother and daughter with multiple nodules and associated hydronephrosis." +163950,"Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by {102:Tartaglia et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Noonan Syndrome\n\nSee also NS3 ({609942}), caused by mutation in the KRAS gene ({190070}); NS4 ({610733}), caused by mutation in the SOS1 gene ({182530}); NS5 ({611553}), caused by mutation in the RAF1 gene ({164760}); NS6 ({613224}), caused by mutation in the NRAS gene ({164790}); NS7 ({613706}), caused by mutation in the BRAF gene ({164757}); NS8 ({615355}), caused by mutation in the RIT1 gene ({609591}); NS9 ({616559}), caused by mutation in the SOS2 gene ({601247}); NS10 ({616564}), caused by mutation in the LZTR1 gene ({600574}); NS11 ({618499}), caused by mutation in the MRAS gene ({608435}); NS12 ({618624}), caused by mutation in the RRAS2 gene ({600098}); and NS13 ({619087}), caused by mutation in the MAPK1 gene ({176948}).\n\nAutosomal recessive forms of Noonan syndrome include NS2 ({605275}), caused by mutation in the LZTR1 gene ({600574}), and NS14 ({619745}), caused by mutation in the SPRED2 gene ({609292}).\n\nSee also Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1; {607721}), caused by mutation in the SHOC2 gene ({602775}); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2; {617506}), caused by mutation in the PPP1CB gene ({600590}); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL; {613563}), caused by mutation in the CBL gene ({165360}).\n\nMutations in the neurofibromin gene (NF1; {613113}), which is the site of mutations causing classic neurofibromatosis type I (NF1; {162200}), have been found in neurofibromatosis-Noonan syndrome (NFNS; {601321})." +164000,"{1,2:Benjamins and Stibbe (1926, 1927)} described a Dutch family in which 6 males and 8 females in 2 generations showed a 'potato nose.' {3:Nieuwenhuijse (1944)} extended the pedigree of {2:Benjamins and Stibbe (1927)}. {4:Toriello et al. (1985)} suggested that potato nose and bifid nose ({210400}) are merger defects of the medial nasal processes and probably different expressions of the same 'developmental field defect.' The lack of hypertelorism is witness to the fundamental distinction between these phenotypes and frontonasal dysplasia ({136760}). {4:Toriello et al. (1985)} reported a family which could represent autosomal recessive inheritance of a malformation in the potato nose/bifid nose category. The propositus, product of a consanguineous marriage, had wide nose and philtrum, as did 2 distant relatives. The kindred was of Dutch extraction." +164100,"Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' ({10:Tarpey et al., 2006}; {9:Shiels et al., 2007}).\n\nFor a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 ({310700})." +164150,{3:Marmor (1973)} reported 3 families in 2 of which the mother and 1 or more children were affected. {2:Forsythe (1955)} and {1:Dichgans and Kornhuber (1964)} described families in which male-to-male transmission was observed. Vertical nystagmus most often signifies acquired disease. The familial disorder is a motor-type vertical (and horizontal) nystagmus with associated mild ataxia. Most of the affected persons had absent optokinetic nystagmus and a hyperactive vestibuloocular response. +164170,"Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976})." +164180,"{3:Delleman and Oorthuys (1981)} reported 2 presumably unrelated boys with orbital cyst, cerebral malformations, and focal dermal hypo- and aplasia. Despite some similarities to the Goltz ({305600}) and Goldenhar ({164210}) syndromes, a new entity was suspected. In neither case were the parents related. 'Punched out' lesions over the nasal alae and in other areas were found in both. In one case the maternal grandmother had unilateral congenital clinical anophthalmia. {12:Moog et al. (1996)} presented the long-term follow-up of a 19-year-old patient who was one of the first 2 patients described by {3:Delleman and Oorthuys (1981)}.\n\n{4:Delleman et al. (1984)} added 2 new cases. {1:Al-Gazali et al. (1988)} reviewed 5 published cases and reported 4 new cases. They illustrated a dramatic example of unilateral orbital cyst as well as examples of periorbital skin appendages. All cases have been sporadic. {5:Giorgi et al. (1989)} described another case. Also see {13:Wilson et al. (1985)}. {7:Hoo et al. (1991)} reported a case in which, as in most cases, involvement was mainly unilateral. Among reported cases, left involvement has dominated over right involvement by about 2 to 1.\n\n{12:Moog et al. (1996)} reported a new case of this disorder presenting with bilateral clinical anophthalmia and orbital cysts, typical skin lesions, a complex brain malformation, and cleft lip/palate. The infant died due to the severe cerebral malformations at the age of 10 months. {12:Moog et al. (1996)} considered the most important differential diagnostic entities to be encephalocraniocutaneous lipomatosis, focal dermal hypoplasia (FDH; {305600}), and microphthalmia with linear skin defects (MCOPS7; {309801}). {10:Moog et al. (1997)} reported 3 new cases and reviewed the clinical features of 23 previously reported cases. The 3 new cases were sporadic. They all had cystic microphthalmia, abnormalities of the ventricular system, and lipomatous skin tags. In addition, 2 of the 3 had Dandy-Walker malformation and focal dermal hypoplastic defects. The 2 children who survived the neonatal period had psychomotor retardation and epilepsy. Twenty-four of the 26 patients reviewed had a colobomatous ocular defect, and all 26 had at least 1 ocular feature. Twenty-four patients had skin appendages, and in 21 of these the appendages were mainly around the orbit. Twenty-one had focal dermal hypoplasia or aplasia. A great variety of cerebral malformations was seen, with 3 patients having a normal CT scan. Of the 17 patients greater than 6 months of age at the time of report, all showed psychomotor retardation, and 13 showed seizures or an abnormal EEG. {10:Moog et al. (1997)} concluded that the triad of ocular, cutaneous, and cerebral features were characteristic of the syndrome and that, in particular, the ocular features were typical and constant. They also noted the difficulty in differentiating oculocerebrocutaneous syndrome from encephalocraniocutaneous lipomatosis. {10:Moog et al. (1997)} reported that the most reliable discriminating features were orbital cysts and agenesis of the corpus callosum, which are unknown in encephalocraniocutaneous lipomatosis, and cerebral calcifications, which are unreported in oculocerebrocutaneous syndrome.\n\n{10:Moog et al. (1997)} reported an 18-to-7 preponderance of male infants. Family history was negative in all but 1 of the patients reported by {3:Delleman and Oorthuys (1981)} and in 1 of the cases reported by {1:Al-Gazali et al. (1988)}, where a paternal cousin had an eye cyst and the mother of the proband had a bilateral coloboma.\n\n{6:Happle (1987)} suggested that oculocerebrocutaneous syndrome, like a number of other sporadically occurring disorders with an irregular distribution of skin involvement, may be the result of an autosomal dominant lethal gene that is compatible with survival only in the mosaic state. {10:Moog et al. (1997)} argued that a dominant lethal mutation with survival only in mosaic form ({6:Happle, 1987}) was an unlikely etiologic mechanism because there was little variation in the tissues involved and because the skin lesions were distributed in a known linear pattern without sharp midline delineation. {10:Moog et al. (1997)} suggested that the pathogenic mechanism is probably disruption of the anterior neuroectodermal plate leading to neurocristopathy with primary craniofacial dysmorphogenesis.\n\n{8:Leichtman et al. (1994)} and {2:Angle and Hersh (1997)} described children with what was suggested to be a more severe form of OCCS who also had anophthalmia, congenital hydrocephalus, and cleft lip and palate. {9:McCandless and Robin (1998)} described a third case of severe OCCS in an infant girl with a similar constellation of findings and additional anomalies including lateral facial cleft, vertebral anomaly, and ventricular septal defect. The additional findings pointed to phenotypic overlap of OCCS and the Goldenhar anomaly ({164210}), an overlap previously noted by {3:Delleman and Oorthuys (1981)} and {1:Al-Gazali et al. (1988)}. {9:McCandless and Robin (1998)} suggested that the minimal diagnostic criteria for Delleman syndrome includes central nervous system cyst or hydrocephalus, orbital cysts or microphthalmia, and focal skin defects.\n\n{11:Moog et al. (2005)} reviewed brain imaging studies, clinical records, photographs, and pathology specimens of 2 new and 9 previously reported patients with OCCS. They found a consistent pattern of malformations in 8 of the 11 cases, consisting of frontal predominant polymicrogyria and periventricular nodular heterotopia, enlarged lateral ventricles or hydrocephalus, agenesis of the corpus callosum (sometimes associated with interhemispheric cysts), and a novel mid-hindbrain malformation consisting of an enlarged, dysplastic tectum, absent cerebellar vermis, small cerebellar hemispheres, and a large posterior fossa fluid collection. The 3 remaining patients had similar but less severe forebrain abnormalities and lacked the mid-hindbrain malformation. {11:Moog et al. (2005)} suggested that the mid-hindbrain malformation is pathognomonic for OCCS and may be used to distinguish OCCS from related syndromes with comparable forebrain anomalies." +164190,"About 97% of persons with normal vision have a sighting-dominant eye. About 65% show right-eye preference and 35% left-eye preference. {2:Zoccolotti (1978)} confirmed the finding of {1:Merrill (1957)}, namely, fewer left-eye dominant persons among the children from R x R matings than among children from R x L or L x L matings. Neither R nor L is apparently strictly recessive because offspring of the other type were observed from both R x R and L x L matings." +164200,"Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding (summary by {16:Judisch et al., 1979}).\n\nNeurologic abnormalities are sometimes associated ({13:Gutmann et al., 1991}), and lymphedema has been reported in some patients with ODDD ({2:Brice et al., 2013}). See review by {5:De Bock et al. (2013)}.\n\n<Subhead> Genetic Heterogeneity of Oculodentodigital Syndrome\n\nAn autosomal recessive form of ODDD ({257850}) is also caused by mutation in the GJA1 gene, but the majority of cases are autosomal dominant." +164210,"Craniofacial microsomia (CFM) is an autosomal dominant disorder characterized by mandibular hypoplasia, microtia, facial and preauricular skin tags, epibulbar dermoids, and lateral oral clefts, in addition to skeletal and cardiac abnormalities. Inter- and intrafamilial variability has been observed ({60:Timberlake et al., 2021}).\n\nHemifacial microsomia is a common birth defect involving the first and second branchial arch derivatives. It typically affects the external ear, middle ear, mandible and temporomandibular joint, muscles of mastication and facial muscles, and other facial soft tissues on the affected side. In some cases, other facial structures, such as the orbit, eye, nose, cranium, or neck, may be involved. Involvement is usually limited to one side, but bilateral involvement is known. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. The phenotype is highly variable. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance (summary by {40:Poole, 1989} and {21:Hennekam et al., 2010}).\n\nSee also hemifacial microsomia with radial defects ({141400}) and oculoauriculofrontonasal dysplasia (OAFNS; {601452}), which may be part of the OAV spectrum.\n\nAnother disorder that overlaps clinically with CFM is Townes-Brocks syndrome (TBS; {107480})." +164220,"Schilbach-Rott syndrome (SBRS) is an autosomal dominant disorder characterized by hypotelorism, epicanthal folds, cleft palate, dysmorphic facies, and hypospadias in males. The phenotype is variable; mild mental retardation has been reported (summary by {6:Shkalim et al., 2009})." +164230,"Obsessive-compulsive disorder (OCD) is characterized by recurring obsessions and/or compulsions and has been estimated to affect nearly 5 million people in the United States ({8:Karno et al., 1988}). Evidence for a strong genetic component in OCD comes from twin studies, family genetics studies, and segregation analyses, as reviewed by {1:Alsobrook et al. (2002)}.\n\n{20:Zhang et al. (2002)} suggested that hoarding is likely to be an evolutionarily conserved trait that, in times of adversity, was associated with increased survival and reproductive fitness. However, extreme forms of this trait are associated with marked disability and poor response to treatment ({2:Black et al., 1998}; {11:Mataix-Cols et al., 1999})." +164280,"Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by {23:Teszas et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Feingold Syndrome\n\nFeingold syndrome-2 (FGLDS2; {614326}) is caused by hemizygous deletion of the MIR17HG gene ({609415}) on chromosome 13q31.3." +164300,"Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset neuromuscular disease characterized by proximal muscle weakness, ptosis, and swallowing difficulty (summary by {23:Robinson et al., 2006})." +164310,"Oculopharyngodistal myopathy-1 (OPDM1) is an autosomal dominant disorder characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. Skeletal muscle biopsy shows myopathic changes with rimmed vacuoles. There are variable manifestations of the disorder regarding muscle involvement and severity (summary by {2:Ishiura et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Oculopharyngodistal Myopathy\n\nSee also OPDM2 ({618940}), caused by trinucleotide repeat expansion in the GIPC1 gene ({605072}) on chromosome 19p13, and OPDM3 ({619473}), caused by trinucleotide repeat expansion in the NOTCH2NLC gene ({618025}) on chromosome 1q21.\n\nOculopharyngeal muscular dystrophy (OPMD; {164300}) is a similar disorder with overlapping features. It is caused by a similar heterozygous trinucleotide repeat expansion in the PABPN1 gene ({602279}) (summary by {1:Durmus et al., 2011})." +164330,{4:Schonberger (1974)} described severe dysphagia in father and son with multiple odontomas. An isolated case reported by {1:Boder (1967)} had the same combination. Hypertrophy of the smooth muscles of the esophagus was thought to be the cause of the dysphagia. {2:Gorlin (1977)} stated that the same family was reported by {3:Schmidseder and Hausamen (1973)}. +164400,"The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions ({55:Margolis, 2003}). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord ({87:Schols et al., 2004}; {99:Taroni and DiDonato, 2004}).\n\nHistorically, {30:Harding (1982)} proposed a clinical classification for autosomal dominant cerebellar ataxias (ADCAs). ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. ADCA III was a pure form of late-onset cerebellar ataxia without additional features. SCA1, SCA2 ({183090}), and SCA3, or Machado-Joseph disease ({109150}), are considered to be forms of ADCA I. These 3 disorders are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. SCA7 ({607640}), caused by a CAG repeat expansion in the ATXN7 gene ({607640}) on chromosome 3p13-p12, is a form of ADCA II. SCA5 ({600224}), SCA31 ({117210}), SCA6 ({183086}), and SCA11 ({600432}) are associated with phenotypes most suggestive of ADCA III. However, {84:Schelhaas et al. (2000)} noted that there is significant phenotypic overlap between different forms of SCA as well as significant phenotypic variability within each subtype.\n\nClassic reviews of olivopontocerebellar atrophies and of inherited ataxias in general include those of {45:Konigsmark and Weiner (1970)}, who identified 5 types of olivopontocerebellar atrophy, {5:Berciano (1982)}, {32:Harding (1993)}, {84:Schelhaas et al. (2000)}, and {55:Margolis (2003)}." +164500,"Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, {27:Harding (1982)} referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions ({6:Benomar et al., 1994}; summary by {15:David et al., 1996}).\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +164680,"{1:Saborio-Rocafort (1988)} showed me a family (N.M., 1838624) in which 2 brothers and a sister, aged 5 to 10 years, and their mother had onychogryposis of the toenails (with normal fingernails) and 'corns' (plantar hyperkeratoses). The 10-year-old male had strikingly coarse, dry, sparse hair. The onychogryposis and plantar keratosis were transmitted in a probable autosomal dominant manner through at least 5 generations with, however, no known male-to-male transmission. The family was first seen for multiple exostoses ({133700}) in the brothers, a trait apparently segregating independently of the nail-skin-hair disorder." +164745,"Omodysplasia-2 is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies ({3:Saal et al., 2015}).\n\nFor a discussion of genetic heterogeneity of OMOD, see {258315}." +164750,"An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis ({230750}), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by {1:Bugge, 2010}). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, {13:Yang et al. (1992)} concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects.\n\nOmphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome ({130650}) and the Shprintzen-Goldberg syndrome ({182210})." +164800,"Hereditary distal onycholysis is an autosomal dominant nail disorder characterized by a decreased rate of growth of the nail, scleronychia, and a straight or concave proximal edge of detachment. Clinical features may include palmoplantar hyperhydrosis and marked sensitivity of the fingers to cold (summary by {1:Bazex et al., 1990}). Hereditary distal onycholysis is referred to here as nonsyndromic congenital nail disorder-5 (NDNC5).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050})." +165098,"{1:Cibis et al. (1992)} described a mother and 3 children who had both internal and external ophthalmoplegia. All 4 had the typical chin-up, eyes-down, and slightly exotropic eye position with blepharoptosis. The pupils were fixed in a slightly dilated position and failed to respond to light or attempted accommodation. The patients needed bifocal correction for near vision because of the lack of accommodation. Mydriatics were minimally effective, but the pupils constricted with dilute pilocarpine solution, indicating denervation sensitivity. The irides transilluminated strikingly in all 4. Pigmentation of the fundus was normal. The same disorder was described by {2:Li (1923)}." +165150,"{1:Levic et al. (1975)} described this combination in a mother, 3 daughters and 2 sons of a Yugoslav family." +165199,"{1:Hagemoser et al. (1989)} reported 2 unrelated families with a disorder characterized by optic atrophy, hearing loss, and peripheral neuropathy. In the first family, there were 13 affected members spanning 4 generations with an instance of male-to-male transmission. Most patients had onset of bilateral hearing loss and visual loss with optic atrophy by school-age. Onset of neurologic features occurred only in a subset of patients as adults, and consisted primarily of decreased vibratory sensation and hyporeflexia in the lower limbs. Nerve conduction velocities suggested an axonal sensory and motor neuropathy. The second family had 3 affected members in 3 generations. Optic atrophy was recognized in the first decade of life. The proband had visual loss at school age and hearing loss by age 13 years. Decreased distal sensation developed as an adult. {1:Hagemoser et al. (1989)} concluded that this disorder showed autosomal dominant inheritance with initial presentation of optic atrophy.\n\nSee {311070} and {258650} for an X-linked and a possible autosomal recessive form of the disorder, respectively." +165200,"{1:Lees et al. (1964)} described a kindred in 5 generations of which 12 males and 3 females were affected with optic neuritis accompanied in some by neurologic manifestations resembling disseminated sclerosis. One had ataxia, right leg weakness and dysarthria. Another developed left hemiparesis during a 2-week period and then recovered partially. {2:Went (1974)} expressed the opinion that this kindred is an example of Leber optic atrophy ({535000}) and not a separate entity." +165290,"{1:Alt et al. (1986)} identified the RMYC gene as a 12-kb cloned genomic EcoRI fragment that had homology to both the second and third exons of LMYC ({164850}); the authors considered it to be a member of the MYC ({190080}) gene family, along with NMYC ({164840}). {1:Alt et al. (1986)} and {2:DePinho et al. (1987)} stated that at least 1 pseudogene is known in this family and that functional activity of another gene, PMYC, had been suggested but was not confirmed." +165500,"Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density ({37:Votruba et al., 1998}).\n\nSome patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes ({42:Yu-Wai-Man et al., 2010}).\n\n{43:Yu-Wai-Man et al. (2009)} provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON; {535000}), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders.\n\n<Subhead> Genetic Heterogeneity of Optic Atrophy\n\nAlso see optic atrophy-2 (OPA2; {311050}), mapped to chromosome Xp11.4-p11.21; OPA3 ({165300}), caused by mutation in the OPA3 gene ({606580}) on chromosome 19q13; OPA4 ({605293}), mapped to chromosome 18q12.2-q12.3; OPA5 ({610708}), caused by mutation in the DNM1L gene ({603850}) on chromosome 12p11; OPA6 ({258500}), mapped to chromosome 8q21-q22; OPA7 ({612989}), caused by mutation in the TMEM126A gene ({612988}) on chromosome 11q14; OPA8 ({616648}), mapped to chromosome 16q21-q22; OPA9 ({616289}), caused by mutation in the ACO2 gene ({100850}) on chromosome 22q13; OPA10 ({616732}), caused by mutation in the RTN4IP1 gene ({610502}) on chromosome 6q21; OPA11 ({617302}), caused by mutation in the YME1L1 gene ({607472}) on chromosome 10p12; OPA12 ({618977}), caused by mutation in the AFG3L2 gene ({604581}) on chromosome 18p11; and OPA13 ({165510}), caused by mutation in the SSBP1 gene ({600439}) on chromosome 7q34." +165510,"Optic atrophy-13 with retinal and foveal abnormalities (OPA13) is an autosomal dominant disorder characterized by decreased visual acuity due to bilateral optic atrophy. Difficulties with color vision may also be apparent. The age at onset varies widely: most patients have onset in the first decade, but later onset even into adulthood has been reported. In addition to optic atrophy, most patients develop retinal pigmentary involvement and abnormal appearance of the fovea. Some patients may develop additional systemic features, including sensorineural deafness and progressive nephropathy resulting in renal failure. The disorder is associated with variable signs of mitochondrial dysfunction, including altered morphology, mtDNA depletion, and defective mtDNA replication (summary by {1:Del Dotto et al., 2020}, {3:Piro-Megy et al., 2020})." +165600,"{1:Urrets-Zavalia (1955)} observed 2 families with a syndrome consisting of agenesis of the orbital margin, hypoplasia of the palpebral skin and tarsal plates, and variable defects of the lacrimal passages including ectopia and elongation of the lower punctum, shortening or absence of the inferior canaliculi, supernumerary canaliculi, or atresia of the nasolacrimal duct. In some a small coloboma of the inner part of the lower lids and congenital anomalies of the extraocular muscles were present." +165680,"Most congenital deafness in children, especially of the profound type, is sensorineural deafness. Some cases of moderate to mild deafness are of the conductive type, but these are relatively rare. Congenital conductive hearing loss falls into 2 categories: the type with microtia and atresia of the auditory canals, and the type without anomalies of the external ears. {1:Higashi et al. (1987)} described a mother and daughter with unilateral hearing loss which was shown by exploratory tympanotomy in the daughter to be the result of a hypoplastic long crus of the incus whose tip had changed into fibrous tissue. The mother's father had bilateral hearing loss from youth. {1:Higashi et al. (1987)} suggested that there are 3 forms of ossicular malformations: (1) incudostapedial disconnection, the condition present in the family they reported; (2) stapes fixation; and (3) combined malformation. They suggested, furthermore, that these may be distinct entities since the different types are usually not found in the same family. Their review of reported cases was limited almost completely to Japanese cases. Unlike the family that they reported, familial cases were usually bilateral, whereas sporadic cases tended to be unilateral.\n\nConductive deafness due to ossicular abnormalities occurs in the Cushing type of symphalangism ({185800}), in the multiple synostosis syndrome ({186500}), with renal hypoplasia or aplasia ({267400}), and with Klippel-Feil deformity and absent vagina ({601076})." +165700,"Thiemann disease is a rare disorder that is considered to be a form of avascular necrosis of the proximal interphalangeal joints of the fingers and toes. The clinical symptoms usually appear in adolescence ({6:Kotevoglu-Senerdem et al., 2003})." +165720,"Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis ({18:Meulenbelt et al., 2006}). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected ({29:Stefansson et al., 2003}). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence.\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Osteoarthritis\n\nSusceptibility to osteoarthritis has been associated with variation in other genes: OS2 ({140600}) with variation in the MATN3 gene ({602109}) on chromosome 2p24; OS3 ({607850}) with variation in the ASPN gene ({608135}) on chromosome 9q22; and OS5 ({612400}) with variation in the GDF5 gene ({601146}) on chromosome 20q11.\n\nOther susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; {610839}) and 3p24 (OS6; {612401})." +165800,"Patients with SSOAD exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis (OA), as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations ({4:Dateki et al., 2017}).\n\nThe term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away." +166000,"Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome ({614569}). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma ({12:Schwartz et al., 1987}).\n\n<Subhead> Classification of the Enchondromatoses\n\nIn their classification of the enchondromatoses, {14:Spranger et al. (1978)} called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis ({156250}), type III; spondyloenchondrodysplasia ({607944}), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. {4:Halal and Azouz (1991)} added 3 tentative categories to the 6 in the classification of {14:Spranger et al. (1978)}.\n\n{8:Pansuriya et al. (2010)} suggested a new classification of enchondromatosis (multiple enchondromas)." +166200,"Osteogenesis imperfecta type I is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae. In most cases, 'functional null' alleles of COL1A1 on chromosome 17 or COL1A2 on chromosome 7 lead to reduced amounts of normal collagen I." +166210,"Osteogenesis imperfecta type II constitutes a disorder characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency ({55:Sillence et al., 1979}; {3:Barnes et al., 2006}).\n\nAlso see osteogenesis imperfecta type VII ({610682}), an autosomal recessive form of lethal OI caused by mutation in the CRTAP gene ({605497})." +166220,"Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by an abnormality of type I collagen in over 90% of cases. Due to considerable phenotypic variability, {21:Sillence et al. (1979)} developed a classification of OI subtypes: OI type I with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclera ({259420}); and OI type IV, with normal sclerae. {13:Levin et al. (1978)} suggested that OI subtypes could be further divided into types A and B based on the absence or presence of dentinogenesis imperfecta." +166230,"{1:Beighton (1981)} reported a kindred in which 20 members in at least 3 generations had opalescent teeth, blue sclerae, wormian bones, and normal height. In the 6 affected individuals who had skeletal surveys, moderate generalized osteoporosis was noted; the older individuals had mild flattening and biconcavity of the vertebral bodies. Only 1 affected individual, an adolescent male, had pronounced platybasia and had sustained 10 femoral fractures on mild trauma. Only the proband had hearing loss. No individuals had joint hyperextensibility. It is not known whether the syndrome is the same as OI type I ({166200})." +166250,"Osteoglophonic dysplasia (OGD) is characterized by rhizomelic dwarfism, nonossifying bone lesions, craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge (summary by {13:White et al., 2005})." +166260,"Gnathodiaphyseal dysplasia is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones (summary by {4:Marconi et al., 2013})." +166300,"Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families ({12:Pai and Macpherson, 1988}).\n\nSee also Torg-Winchester syndrome ({259600}), an autosomal recessive multicentric osteolysis syndrome." +166350,"Progressive osseous heteroplasia is a rare autosomal dominant disorder characterized by dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia ({11:Kaplan et al., 1994}).\n\nThe molecular defect causing POH is the same as that causing PPHP: an inactivating GNAS mutation caused only by paternal inheritance of the mutant allele. However, patients with PPHP have a constellation of physical findings referred to as Albright hereditary osteodystrophy (AHO; see {103580}) that is often not seen in patients with POH. {3:Bastepe and Juppner (2005)} suggested that POH may be an extreme end of the spectrum of the AHO features seen in PPHP." +166400,Multiple smoothly outlined globoid osteomas occur on the jaw in Gardner syndrome ({175100}). Whether this tumor ever occurs as an inherited trait independent of intestinal polyps and other bony and soft-tissue tumors is not clear. {1:Frangenheim (1914)} described this type of tumor in a father and 3 of his children but intestinal polyps were not excluded. +166450,"{5:Stoll et al. (1981)} reported an apparently new form of autosomal dominant osteosclerosis. The patient (in her late 20s), her mother, and her youngest brother showed sclerosis of the pelvis and spine, with sparing of the skull, tubular bones, hands, feet, ribs, and clavicles. The head of the femur was also sclerotic bilaterally. {1:Maroteaux (1980)}, who proposed the term 'osteomesopyknosis,' described 4 families, and {4:Simon et al. (1979)} described a family. Height in this disorder is normal. Patients may complain of low back pain or pelvic pain. The proband of {5:Stoll et al. (1981)} had 'ovarian sclerosis' and infertility. Radiographs at age 10 and in the late twenties were identical. Father-to-son transmission was observed in the family studied by {4:Simon et al. (1979)} and in the families studied by {1:Maroteaux (1980)}. The disorder was present through several generations. The early reports all emanated from France, but a family with the condition was subsequently recognized in North America by {3:Proschek et al. (1985)}. The condition designated axial osteomalacia ({109130}) by {6:Whyte et al. (1981)} may be the same disorder; despite the finding of osteosclerosis by x-ray, bone biopsy specimens showed osteomalacia." +166600,"Autosomal dominant osteopetrosis-2 is characterized by segmentary osteosclerosis, predominantly at the vertebral endplates ('rugger-jersey spine'), iliac wings ('bone within bone' sign), and skull base. Clinical manifestations include cranial nerve palsies, mandibular osteomyelitis, osteoarthritis of the hip, and nontraumatic fractures, particularly of the long bones ({6:Cleiren et al., 2001}). OPTA2 accounts for 70% of cases of autosomal dominant osteopetrosis ({7:Del Fattore et al., 2008}).\n\nFor a discussion of genetic heterogeneity of autosomal dominant osteopetrosis, see OPTA1 ({607634})." +166700,"Buschke-Ollendorff syndrome is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis ({155950}), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by {12:Hellemans et al., 2004} and {34:Zhang et al., 2009})." +166705,{1:Gunal et al. (1993)} described 5 members of a family who had osteopoikilosis ({166700}) in association with dacryocystitis. Inheritance appeared to be autosomal dominant. Chromosome analysis showed normal karyotype in all patients. +166740,"{1:Koller et al. (1979)} described an apparently 'new' dominant disorder characterized by cortical thickening of the diaphyses of long bones and bowing of femurs and tibias in a family from northern Norway. Six persons in 2 generations were affected. All 6 had ichthyosis and 3 also had an unusual proclivity to fractures. The patients had pain and weakness in the legs and a waddling gait, as in Engelmann disease ({131300}). No male-to-male transmission was observed and no affected male had children; hence, autosomal and X-linked inheritance could not be distinguished. Females and males were probably affected with equal severity." +166750,"Otodental syndrome is an autosomal dominant condition characterized by grossly enlarged canine and molar teeth (globodontia), associated with sensorineural hearing loss. Ocular coloboma segregating with otodental syndrome has been reported (summary by {3:Gregory-Evans et al., 2007})." +166780,"Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by {5:Pohl et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Otofaciocervical Syndrome\n\nOTFCS2 ({615560}) is caused by mutation in the PAX1 gene ({167411}) on chromosome 20p11." +166800,"Clinical otosclerosis, the single most common cause of hearing impairment, is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. Otosclerotic foci invade the stapediovestibular joint (oval window) and interfere with free motion of the stapes. Mean age of onset is in the third decade and 90% of affected persons are under 50 years of age at the time of diagnosis. Approximately 10% of affected persons develop profound sensorineural hearing loss across all frequencies (summary by {16:Tomek et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Otosclerosis\n\nThe locus associated with otosclerosis-1 (OTSC1) has been mapped to chromosome 15q26.1. Other loci associated with otosclerosis include OTSC2 ({605727}) on chromosome 7q; OTSC3 ({608244}) on chromosome 6p; OTSC4 ({611571}) on chromosome 16q; OTSC5 ({608787}) on chromosome 3q22-q24; OTSC7 ({611572}) on chromosome 6q13; OTSC8 ({612096}) on chromosome 9p13.1-q21.11; and OTSC10 ({615589}) on chromosome 1q41-q44.\n\nThe symbols OTSC6 and OTSC9 were reserved by the HUGO Gene Nomenclature Committee on January 30, 2003 and February 10, 2009, respectively, for as yet unpublished loci for otosclerosis." +166900,"Southeast Asian ovalocytosis is a hereditary red blood cell disorder that is widespread in certain ethnic groups of Malaysia, Papua New Guinea, the Philippines, and Indonesia. Ovalocytic erythrocytes are rigid and exhibit reduced expression of many erythrocyte antigens. The ovalocytes are resistant to invasion in vitro by several strains of malaria, including Plasmodium falciparum and Plasmodium knowlesi (summary by {12:Jarolim et al., 1991}). The disorder is most often asymptomatic but has been reported to be associated with signs of mild hemolysis such as intermittent jaundice and gallstones (summary by {20:Reardon et al., 1993})." +166910,"{1:Torlontano et al. (1979)} suggested that hereditary elliptocytosis (HE) falls into four categories: (1) HE without clinical hemolysis; (2) HE with hemolysis and sometimes anemia; (3) hereditary hemolytic ovalocytosis ({166900}); and (4) defective erythropoiesis and incomplete response to splenectomy. They studied 4 families with the last disorder, all from central and southern Italy. The degree of red cell eccentricity is less marked in ovalocytosis than in typical elliptocytosis." +166950,"Dermoid cysts are generally benign cystic tumors comprised predominantly of ectodermal elements. However, endodermal and mesodermal elements also may be included. These cysts are often filled with hair, skin, teeth, bones, neural tissue and sebaceous material. {5:Plattner and Oxorn (1973)} reported the presence of bilateral ovarian dermoid cysts in a mother and her only 2 daughters. This was the first report of such bilateral ovarian dermoid cysts occurring in consecutive generations of a family. These bilateral teratomas were surgically removed from the mother at age 22 and from both her daughters at age 23. The authors stated that the literature contained 18 cases in 6 families with a familial occurrence of dermoid cysts. {2:Hecht et al. (1976)} suggested that there may be an important genetic factor in ovarian teratomas. They observed affected grandmother and granddaughter and pointed to early onset, bilaterality (in 10 to 25% of patients) and the demonstrable genetic factor in mice ({7:Stevens and Varnum, 1974}) as supporting evidence.\n\nOvarian teratomas originate through failure of extrusion of the second polar body or refusion of it with the ovum, i.e., self-fertilization. This is a conclusion based on study of chromosome and biochemical polymorphism in teratoma cells ({3:Linder et al., 1975}). (Testicular teratomas may have a different origin.) Study of biochemical traits in cells of teratomas is a means of 'centromere mapping.' The farther from the centromere a given locus is situated, the higher is the proportion of teratomas from hosts heterozygous at that locus which will be heterozygous only. Loci close to the centromere will be homozygous; loci farther from the centromere will have a chance to be heterozygous, up to a limiting proportion of two-thirds. The last follows from the fact that a given chromatid has (at the four-strand stage) three other chromatids with which it can crossover. In a heterozygous host two of the three have a different allele at the given locus.\n\n{1:Deka et al. (1989)} studied 62 host-teratoma pairs for chromosomal heteromorphisms and polymorphic DNA loci. Their findings contradicted the assumption of {3:Linder et al. (1975)} that teratomas originate only by meiosis II error; 27.3% originated by type I error and 15.9% by type IV error. In this study, 80% of teratomas were found to be useful for gene mapping, a contradiction to the report of {4:Parrington et al. (1984)} that most teratomas are not informative for mapping." +166970,"{1:Dumont-Herskowitz et al. (1978)} reported ovarian fibromata in 6 women in 5 sibships of 4 generations of a family. In most, presentation was in childhood. The pedigree was consistent with either autosomal or X-linked dominant inheritance with, of course, sex limitation. Ovarian tumors occur with the Peutz-Jeghers syndrome ({175200}) and with the basal cell nevus syndrome ({109400}). In the latter condition the ovarian tumors are fibromata and undergo calcification. No stigmata of basal cell nevus syndrome was found in the family reported by {1:Dumont-Herskowitz et al. (1978)}." +166990,"{1:Faye-Petersen et al. (1991)} described a female infant, born at term to normal unrelated parents, who showed this combination of abnormalities. The osteochondrodysplasia was of a nonlethal rhizomelic type. Radiologic and light microscopic findings suggested that this was a distinct form of osteochondrodysplasia." +167000,"Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases ({6:Chi et al., 2001}). These typical features relate to the biology of the disease, which is a principal determinant of outcome ({1:Auersperg et al., 2001}). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium ({46:Stany et al., 2008}; {45:Soslow, 2008})." +167030,"{10:Kleta (2006)} reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria ({220100}) and primary hyperoxaluria (see {259900}) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts.\n\n{19:Thorleifsson et al. (2009)} noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%." +167100,"Autosomal dominant primary hypertrophic osteoarthropathy (PHOAD) is characterized by 3 major features: digital clubbing, periostosis, and pachydermia. Patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females ({4:Lee et al., 2016}; {8:Xu et al., 2021}).\n\n{7:Touraine et al. (1935)} recognized pachydermoperiostosis (PDP) as a familial disorder with 3 presentations or forms: a complete form with periostosis and pachydermia, an incomplete form without pachydermia, and a forme fruste with pachydermia and minimal skeletal changes.\n\n<Subhead> Genetic Heterogeneity\n\nAutosomal recessive forms of PHO have been reported (see {259100}), including PHOAR2 ({614441}), which is also caused by mutation in the SLCO2A1 gene." +167200,"Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {29:Sybert, 2010}; {6:Eliason et al., 2012}; {18:McLean et al., 2011}).\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{9:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{25:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {30:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.\n\n<Subhead> Genetic Heterogeneity of Pachyonychia Congenita\n\nSee pachyonychia congenita-2 (PC2; {167210}), caused by mutation in the KRT17 gene ({148069}) on chromosome 17; PC3 ({615726}), caused by mutation in the KRT6A gene ({148041}) on chromosome 2; and PC4 ({615728}), caused by mutation or in the KRT6B gene ({148042}) on chromosome 12.\n\nSee {260130} for a possible autosomal recessive form of pachyonychia congenita." +167210,"Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {13:Sybert, 2010}; {2:Eliason et al., 2012}; {7:McLean et al., 2011}).\n\nFor a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{4:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{11:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {14:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis." +167250,"Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by {31:Ralston et al. (2008)} and {30:Ralston and Albagha (2014)}.\n\n<Subhead> Genetic Heterogeneity of Paget Disease of Bone\n\nAlso see PDB2 ({602080}), caused by mutation in the TNFRSF11A gene ({603499}) on chromosome 18q21; PDB4 ({606263}), mapped to chromosome 5q31; PDB5 ({239000}), caused by mutation in the TNFRSF11B gene ({602643}) on chromosome 8q24; and PDB6 ({616833}), caused by mutation in the ZNF687 gene ({610568}) on chromosome 1q21.\n\nSuggestive linkage of a form of PDB to chromosome 6p (PDB1) was reported by {6:Fotino et al. (1977)}; however, further studies did not confirm linkage to this site ({25:Moore and Hoffman, 1988}; {27:Nance et al., 2000}; {9:Good et al., 2001})." +167300,"Extramammary Paget disease is a cancerous disease seen at various sites, most often in the anogenital region. The clinical features are usually those of eczematous eruptions with weeping and crust formation. This disease has been shown to be a skin manifestation of internal malignancy. In a study of 40 patients with Paget disease of the anogenital region, {1:Helwig and Graham (1963)} did not find a family history of the disease in any of the cases. {2:Kuehn et al. (1973)} described a case occurring in a father and son. The father, aged 66, presented with extramammary Paget disease in the right scrotal area. No mention was made of other family history." +167320,"IBMPFD is an autosomal dominant disorder characterized by incomplete penetrance of 3 main features: disabling muscle weakness (in 90%), osteolytic bone lesions consistent with Paget disease (in 51%), and frontotemporal dementia (in 32%). Muscle weakness is an isolated symptom in about 30% of patients and the presenting symptom in greater than half of patients, suggesting that IBMPFD may commonly be seen in a neuromuscular clinic without its other syndromic features (review by {21:Weihl et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of IBMPFD\n\nIBMPFD2 ({615422}) is caused by mutation in the HNRNPA2B1 gene ({600124}) on chromosome 7p15. IBMPFD3 ({615424}) is caused by mutation in the HNRNPA1 gene ({164017}) on chromosome 12q13." +167400,"Paroxysmal extreme pain disorder, formerly known as familial rectal pain, is characterized by paroxysms of rectal, ocular, or submandibular pain with flushing. Onset is usually in the neonatal period or infancy ({2:Fertleman et al., 2006})." +167700,"The palmomental reflex is an ipsilateral or bilateral contraction of the mentalis muscle elicited by a scratch applied to the thenar eminence. In Japanese, {1:Abe (1965)} found it in one-third of 3-year-old children and one-sixth of the mothers, suggesting that about half the positive children become negative by adulthood. The reflex was much more often positive in mothers of children with the reflex than in mothers of 'negative' children. Further analysis of the data suggested dominant inheritance. The design of this study did not permit exclusion of X-linked dominance. A marked, slowly subsiding reflex in an adult may indicate cerebral disease." +167730,"Nasopalpebral lipoma-coloboma syndrome (NPLCS) is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by {7:Suresh et al., 2011})." +167755,"Partial dorsal agenesis, or congenital short pancreas, is characterized by the presence of the accessory papilla, the terminal end of the main dorsal duct of Santorini, or the pancreatic body. All of these structures are missing in complete dorsal agenesis of the pancreas ({1:Wildling et al., 1993})." +167850,"{1:Aufderheide (1972)} described a large kindred with cytopenia (involving red cells, white cells, platelets or any combination of these elements) and occlusive vascular disease. Cytopenia varied widely in degree. It was first identified in the second decade of life. Symptoms became overt by the third decade. Death occurred in the fifth and sixth decades. Vascular occlusive disease occurred in 9 of 13 adults. Both males and females were affected and male-to-male transmission was observed." +167870,"The DSM-IV ({1:American Psychiatric Association, 1994}) defines panic disorder as the spontaneous, unexpected occurrence of panic attacks followed by persistent concern, worry, and anxiety about having additional panic attacks. Panic attacks are defined as a discrete period of intense fear or discomfort in which at least 4 of 13 symptom criteria are met that develop abruptly and reach a peak within 10 minutes. Some of these criteria include cardiac palpitations, sweating, feelings of choking, fear of losing control, and fear of dying. Panic disorder is divided into panic disorder with or without accompanying agoraphobia. However, agoraphobia can also occur without panic disorder, and panic attacks can occur in the absence of panic disorder. Comorbidity with depressive and addictive disorders is frequent.\n\n{2:Barlow et al. (1994)} and {22:Smoller and Tsuang (1998)} noted that because the diagnostic criteria remain purely clinical, the nosology of anxiety disorders, such as panic disorder, is controversial and evolving. Therefore, it is difficult to do genetic studies because of the difficulty in delineating overlapping phenotypes within the broader context of anxiety disorders. For example, there may be overlap of panic with specific phobias, variable expressivity of panic and anxiety or depression, or phenocopies within a family. The terms 'anxiety neurosis' and 'phobic neurosis' were used in the past (before the DSM-III in 1980) to encompass all of these disorders. {22:Smoller and Tsuang (1998)} suggested that dimensional personality traits, such as shyness, behavioral inhibition, and neuroticism (see {607834}), could be used to define an anxiety phenotype.\n\n{19:Schumacher et al. (2011)} provided a review of the genetics of panic disorder. They noted that there is high (80%) comorbidity with other psychiatric disorders, including agoraphobia, mood disorders, substance abuse, and other anxiety disorders. Associated personality traits include anxiety sensitivity, behavioral inhibition, neuroticism, and harm avoidance. Women are more susceptible to development of the disorder, which has an average age of onset at 23.6 years.\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Panic Disorder\n\nSusceptibility to panic disorder-1 (PAND1) has been mapped to chromosome 13q. See also PAND2 ({607853}), mapped to chromosome 9, and PAND3 ({609985}), mapped to chromosome 4." +167900,"Confluent and reticulated papillomatosis is a dermatologic disorder characterized by onset in the teenage or young adult years of hyperkeratotic 1- to 2-mm papules that increase in size to 4 to 5 mm and coalesce to form a reticular pattern peripherally and a confluent pattern centrally. Early papules can be erythematous and later turn brown. Affected individuals are usually otherwise asymptomatic. The condition is distinct from acanthosis nigricans and tinea versicolor (infection with the yeast Pityrosporum), but can appear similar. Microscopic examination of skin biopsy shows epidermal undulation with hyperkeratosis, squat papillomatosis, and occasional acanthotic downward projections from the bases of the dells between papillomatous areas. Antibacterial agents such as minocycline and azithromycin are effective, perhaps due to their antiinflammatory and immunomodulatory properties (summary by {5:Scheinfeld, 2006})." +167950,Florid papillomatosis of the nipple is a benign disorder which simulates Paget disease of the nipple. The latter disorder has much more sinister implications. {1:Mandelbaum (1972)} described affected mother and daughter. +167959,"In 2 cervical carcinoma cell lines, HeLa and C4-I, {2:Durst et al. (1987)} found that HPV18 DNA was integrated into chromosome 8, 5-prime to the MYC gene ({190080}). See also {1:Couturier et al. (1991)}. Thus, cis-activation of cellular oncogenes seems to be responsible for malignant transformation of cervical epithelial cells in some cervical cancers." +167960,"The DNA of human papillomavirus (HPV) types 16 and 18 has been found closely associated with human genital cancers, supporting an etiologic role for these viruses. Both HPV16 and HPV18 DNA sequences have also been detected in cell lines derived from cervical cancer. For example, the most famous such line, HeLa, contains HPV18 DNA amplified about 10- to 50-fold together with the flanking cellular sequences. Most, if not all, HPV-positive mRNAs from HeLa are virus-cell fusion transcripts. The host cell sequences are spliced to the 5-prime HPV18 exons. In a primary cervical carcinoma, {1:Durst et al. (1987)} found that HPV-16 flanking sequences were localized to chromosome regions 20pter-q13 and 3p25-qter, regions that also contain the protooncogenes SRC ({190090}) and RAF1 ({164760}), respectively. In the SiHa cervical carcinoma-derived cell line, {1:Durst et al. (1987)} demonstrated that the HPV16 integration site was into chromosome region 13q14-q32. The HPV18 integration site in SW756 cervical carcinoma cells was in chromosome 12 but was not closely linked to the KRAS2 gene ({190070}). In 2 cervical carcinoma cell lines, HeLa and C4-I, HPV18 DNA was integrated in chromosome 8, 5-prime to the MYC gene ({190080}). All this suggested that at least in some genital tumors, cis-activation of cellular oncogenes by HPV may be involved in malignant transformation of cervical cells. {2:Popescu et al. (1987)} also found that the HPV18 DNA in the cervical carcinoma cell line SW756 was integrated at a single site, namely, 12q13. Multiple copies were present at this site, which was determined by in situ hybridization. The single integration site corresponds to a heritable fragile site which, {2:Popescu et al. (1987)} suggested, may have facilitated the integration of the viral DNA." +168000,"Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors ({8:Baysal, 2002}; {42:Neumann et al., 2004}).\n\nThe triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad ({604287}). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy ({160980}).\n\n{9:Baysal (2008)} provided a review of the molecular pathogenesis of hereditary paraganglioma.\n\n<Subhead> Genetic Heterogeneity of Paragangliomas\n\nSee also PGL4 ({115310}), caused by mutation in the SDHB gene ({185470}) on chromosome 1p36; PGL3 ({605373}), caused by mutation in the SDHC gene ({602413}) on chromosome 1q21; PGL2 ({601650}), caused by mutation in the SDHAF2 gene ({613019}) on chromosome 11q13; PGL5 ({614165}), caused by mutation in the SDHA gene ({600857}) on chromosome 5p15; PGL6 ({618464}), caused by mutation in the SLC25A11 gene ({604165}) on chromosome 17p13; and PGL7 ({618475}), caused by mutation in the DLST gene ({126063}) on chromosome 14q24." +168200,"This is an extra small cusp located on the buccal side of the permanent molar teeth, usually the upper second and third. Its significance is unknown." +168500,"Parietal foramina are symmetric, oval defects in the parietal bone situated on each side of the sagittal suture and separated from each other by a narrow bridge of bone. The size of the openings decrease with age and considerable intrafamilial variability is observed (summary by {12:Spruijt et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Parietal Foramina\n\nSee also PFM2 ({609597}) and the 11p11.2 deletion syndrome ({601224}), in which parietal foramina are caused by haploinsufficiency of the ALX4 gene ({605420}) on chromosome 11p.\n\nA third locus for PFM (PFM3; {609566}) has been mapped to chromosome 4q21-q23." +168600,"Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD; {104300}), affecting approximately 1% of the population over age 50 ({93:Polymeropoulos et al., 1996}).\n\n<Subhead> Reviews\n\n{134:Warner and Schapira (2003)} reviewed the genetic and environmental causes of Parkinson disease. {31:Feany (2004)} reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. {60:Lees et al. (2009)} provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment.\n\n<Subhead> Genetic Heterogeneity of Parkinson Disease\n\nSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 ({168601}) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA; {163890}), respectively, on 4q22; PARK5 ({191342}), caused by mutation in the UCHL1 gene on 4p13; PARK8 ({607060}), caused by mutation in the LRRK2 gene ({609007}) on 12q12; PARK11 ({607688}), caused by mutation in the GIGYF2 gene ({612003}) on 2q37; PARK13 ({610297}), caused by mutation in the HTRA2 gene ({606441}) on 2p13; PARK17 ({614203}), caused by mutation in the VPS35 gene ({601501}) on 16q11; PARK18 ({614251}), caused by mutation in the EIF4G1 gene ({600495}) on 3q27; PARK22 ({616710}), caused by mutation in the CHCHD2 gene ({616244}) on chromosome 7p11.2; and PARK24 ({619491}), caused by mutation in the PSAP gene ({176801}) on chromosome 10q22.\n\nSeveral loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 ({600116}), caused by mutation in the gene encoding parkin (PARK2; {602544}) on 6q26; PARK6 ({605909}), caused by mutation in the PINK1 gene ({608309}) on 1p36; PARK7 ({606324}), caused by mutation in the DJ1 gene (PARK7; {602533}) on 1p36; PARK14 ({612953}), caused by mutation in the PLA2G6 gene ({603604}) on 22q13; PARK15 ({260300}), caused by mutation in the FBXO7 gene ({605648}) on 22q12-q13; PARK19A ({615528}) and PARK19B (see {615528}), caused by mutation in the DNAJC6 gene ({608375}) on 1p32; PARK20 ({615530}), caused by mutation in the SYNJ1 gene ({604297}) on 21q22; and PARK23 ({616840}), caused by mutation in the VPS13C gene ({608879}) on chromosome 15q22.\n\nPARK3 ({602404}) has been mapped to chromosome 2p13; PARK10 ({606852}) has been mapped to chromosome 1p34-p32; PARK16 ({613164}) has been mapped to chromosome 1q32. See also PARK21 ({616361}). A locus on the X chromosome has been identified (PARK12; {300557}). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see {556500}). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA ({606463}), MAPT ({157140}), MC1R ({155555}), ADH1C ({103730}), and genes at the HLA locus (see, e.g., HLA-DRA, {142860}). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect ({45:Hamza et al., 2010}).\n\nSusceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 ({601517}), ATXN3 ({607047}), TBP ({600075}), and ATXN8OS ({603680}) genes." +168601,"Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; {104300}), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia ({18:Polymeropoulos et al., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}." +168605,"Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset parkinsonism and depression, followed by weight loss and respiratory hypoventilation ({5:Perry et al., 1975}). The phenotype has subsequently been expanded to include features that overlap with other neurodegenerative conditions, including frontotemporal dementia (see, e.g., {600274}) and progressive supranuclear palsy (PSP; {601104}). There is intrafamilial variation in the manifestations of the disorder (summary by {1:Caroppo et al., 2014}; review by {10:Wider et al., 2010}).\n\nMutation in the DCTN1 gene can also cause distal motor neuronopathy type VIIB (HMN7B; {607641}) and confer increased susceptibility to amyotrophic lateral sclerosis (ALS; see {105400})." +168710,"{3:Karn et al. (1985)} identified a new polymorphism, Pc, in human salivary proteins. Two proteins, Pc1 and Pc2, determined by alleles Pc(1) and Pc(2), showed autosomal codominant inheritance. The 2 alleles showed gene frequencies of 0.670 and 0.330 in blacks and 0.461 and 0.539 in whites. Segregation analysis did not suggest the presence of a null allele in either population. {2:Azen et al. (1985)} assigned the proline-rich protein (PRP) genes to chromosome 12 by means of a DNA probe derived from one of these and human-mouse somatic cell hybrids. There was complete concordance between this marker and an RFLP in the 12q14-q22 region. By in situ hybridization, {4:Mamula et al. (1985)} regionalized the salivary protein gene complex to 12p13.2. Although Pc is clearly a proline-rich salivary protein coded by the gene cluster on 12p, its relation to the 6 gene loci identified there is not known ({1:Azen, 1990})." +168800,{1:Marie et al. (1967)} described 6 cases in 3 generations. +168820,"The paraoxonase (PON) gene family includes 3 genes, PON1, PON2 ({602447}), and PON3 ({602720}), aligned next to each other on chromosome 7. PON1 ({EC 3.1.1.2}) hydrolyzes the toxic oxon metabolites of several organophosphorous insecticides, including parathion, diazinon, and chlorpyrifos, as well as nerve agents, such as sarin and soman. PON1 also hydrolyzes aromatic esters, preferably those of acetic acid. In addition, PON1 hydrolyzes a variety of aromatic and aliphatic lactones, and it also catalyzes the reverse reaction, lactonization, of gamma- and delta-hydroxycarboxylic acids. Human PON1 is synthesized in liver and secreted into blood, where it is associated exclusively with high density lipoproteins (HDLs) and may protect against development of atherosclerosis ({15:Draganov et al., 2005})." +168830,"The Passovoy factor defect was originally described as an autosomal dominant bleeding disorder characterized by a prolonged activated partial thromboplastin time (APTT) ({6:Hougie et al., 1975}). However, further characterization of supposedly affected individuals has identified other causes for the prolonged APTT, thus casting doubt on the existence of the Passovoy factor defect as a distinct entity ({3:Foster et al., 1992}; {4:Hayani et al., 1996})." +169150,"Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see {268000})-like changes have sometimes been observed in association with patterned dystrophies (summary by {10:Vaclavik et al., 2012}).\n\nThree main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see {179840} and {267800}), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea.\n\n<Subhead> Genetic Heterogeneity of Patterned Macular Dystrophy\n\nAlso see MDPT2 ({608970}), caused by mutation in the CTNNA1 gene ({116805}) on chromosome 5q31; and MDPT3 ({617111}), caused by mutation in the MAPKAPK3 gene ({602130}) on chromosome 3p21." +169200,"{3,2:Pechet et al. (1964, 1966)} described a 'new' clotting defect in a 15-year-old boy, his mother, 1 brother and 1 sister. The proband had frequent traumatic hemorrhages. The relatives with laboratory abnormalities were asymptomatic. The maternal grandfather also showed a defect of clotting. The authors suggested that these persons lack a clotting factor that plays a role in the first phase of coagulation, following the activation of factor IX but before the activation of factor X." +169300,{2:Nowak (1936)} traced pectus excavatum in 2 to 4 generations in 12 families; a generation was skipped in 5 families. {6:Stoddard (1939)} reported an extensively affected family with a pattern consistent with autosomal dominant inheritance. This deformity also occurs in the Marfan syndrome and some other hereditary disorders. {1:Leung and Hoo (1987)} reported 3 Chinese families in each of which there were several instances of pectus excavatum. Male-to-male transmission was seen. +169500,"Autosomal dominant adult-onset demyelinating leukodystrophy is a slowly progressive and fatal disorder that presents in the fourth or fifth decade of life and is characterized clinically by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. ADLD differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis (summary by {15:Padiath et al., 2006}). Characteristic MRI findings include T2-weighted hyperintense changes in the upper corticospinal tract and cerebellar peduncles, with later development of confluent white matter changes in the frontoparietal area with relative sparing of the periventricular white matter (summary by {20:Schuster et al., 2011})." +169545,"Pelvic lipomatosis is a feature of the Proteus syndrome ({176920}). {1:Goswami et al. (1992)} described an 18-year-old male with both kidneys located on the right side and with pelvic lipomatosis. Although usually benign, there was a question of neoplastic changes in the lipomatosis of this patient. {1:Goswami et al. (1992)} stated that fewer than 100 cases of pelvic lipomatosis had been reported and that only 4 have been in female subjects. A remarkable and probably significant feature of the patient reported by {1:Goswami et al. (1992)} was the presence of abnormalities involving chromosome 1 in 37% of metaphases: '...these almost always exhibit a whole chromosome translocation with chromosome 6 (35%), although involvement of chromosome 1 with chromosome 8 is present in 2% of metaphases.'" +169600,"Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by {17:Poblete-Gutierrez et al., 2004}).\n\nThis disorder was first described by the dermatologist brothers {7:Hailey and Hailey (1939)}." +169610,"Pemphigus vulgaris (PV) is a rare, blistering autoimmune disease that affects the skin and mucous membranes. Patients have circulating antibody to an intercellular cement substance, and deposition in vivo of this antibody is a hallmark of the disease. The antibody appears to be pathogenetic, since newborn infants of mothers with pemphigus may have blisters, and newborn mice injected with the antibody from patients have clinical pemphigus. The disease is reported to have a particularly high incidence among Jews (summary by {2:Ahmed et al., 1990})." +169710,"{2:Korsnes and Gedde-Dahl (1980)} concluded that the pepsinogen I group must be coded for by more than one gene locus. They termed one locus PG5 ({169700}). The gene products differ from each other in the pepsin-coding part of the gene. The PG2, PG3 and weak PG4 electrophoretic bands are not coded for by alleles at the PG5 locus. They differ in the oligopeptides split off in pepsinogen-pepsin conversion. {1:Bebelman et al. (1989)} reported RFLP studies relating haplotypes to isozymogen patterns through a correlation of polymorphism at the DNA and protein levels. The findings supported the view that the isozymogen patterns are encoded by allelic haplotypes, encompassing different numbers and types of PGA genes. Exceptions suggested that rare haplotypes evolved by unique crossover events." +170100,"Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectases with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by {18:Lupi et al., 2008})." +170390,"Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by {7:Davies et al., 2005})." +170400,"There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, that are distinguished by the changes in serum potassium levels during paralytic attacks. In contrast to HYPP, myotonia is usually not present in HOKPP ({16:Jurkat-Rott et al., 2000}). Hypokalemic periodic paralysis may also occur as a rare complication of thyrotoxicosis (see TTPP1, {188580}), a disorder with a high frequency in individuals of Asian descent ({18:Kung, 2006})." +170500,"The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients ({19:Jurkat-Rott et al., 2000}).\n\n{20:Jurkatt-Rott and Lehmann-Horn (2007)} provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP." +170600,"In the family reported by {2:Poskanzer and Kerr (1961)}, 21 members were affected. In addition to normokalemia, favorable response to sodium chloride was an unusual feature. {1:Danowski et al. (1975)} considered the normokalemic and hyperkalemic varieties of periodic paralysis to be the same entity. Their proband was a 59-year-old male whose periodic paralysis either occurred spontaneously without hyperkalemia or was induced by increasing serum potassium. Between attacks he showed percussion-myotonia of the tongue. Electron microscopy showed dilatation of the sarcoplasmic reticulum in skeletal muscle. Since the same was observed before clinical manifestation, e.g., in asymptomatic children of an affected daughter of the proband, they suggested that the electron microscopic change may be an anatomic marker for the disease." +170650,"Aggressive periodontitis, which may be generalized or localized, is characterized by severe and protracted gingival infections, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting ({2:American Academy of Periodontology, 2000}). The term 'aggressive periodontitis' replaced the terms 'early-onset,' 'prepubertal,' or 'juvenile periodontitis' at a 1999 International workshop for a classification of periodontal disease and conditions, where it was decided that the classification terminology should not be age dependent or require knowledge of rates of progression ({3:Armitage, 1999}).\n\n<Subhead> Genetic Heterogeneity of Aggressive Periodontitis\n\nAggressive periodontitis-2 ({608526}) has been mapped to chromosome 1q25." +170700,"{6:Singleton et al. (1960)} reported a form of dysostosis limited essentially to the tubular bones of the hands and feet. The epiphyses in the fingers are conical with their apex set into the metaphyseal ends of the phalanges (which look like the bottom of wine bottles). The cone-shaped epiphyses in the phalanges with a paucity of signs and symptoms elsewhere is characteristic. {1:Bachman (1967)} reported affected mother and her son and daughter; the mother, aged 47, was 61.5 inches tall, had short fingers, and suffered from severe osteoarthritis of the hips. See {105835} for a reinterpretation of the family reported by {1:Bachman (1967)} as an example of angel-shaped phalango-epiphyseal dysplasia (ASPED).\n\nThis is probably a heterogeneous category in which one entity, termed acrodysostosis ({101800}), has the additional features of pug nose, open mouth and prognathism, and mental deficiency. Changes were almost limited to the hands and feet in the patient reported by {3:Cohen and Van Creveld (1963)}. The facies were characterized by pug nose and sunken bridge but the skull did not suggest achondroplasia. Intelligence was considered normal. {7:Singleton and Siggers (1974)} gave a follow-up of the case of {6:Singleton et al. (1960)}. The appearance of the patient was remarkably like that in the patients with autosomal recessive peripheral dysostosis reported by {4:Goodman et al. (1974)}. {2:Brooks and Wynne-Davies (1980)} reported 2 sisters with diaphyseal aclasis inherited from the father and peripheral dysostosis inherited from the mother." +170900,"In the relatives of 34 pernicious anemia probands, {3:McIntyre et al. (1959)} tested the ability to absorb orally given doses of cobalt-60 labeled vitamin B12 (Schilling test). The relatives of pernicious anemia patients showed a negative correlation with age; control subjects did not. The relatives showed a tendency to bimodality. Forty-eight percent of sibs and 32% of offspring had abnormal absorption. The authors suggested autosomal dominant inheritance. {5:Wangel et al. (1968)} suggested that the tendency to form autoantibodies against gastric parietal cells may be inherited as a dominant with incomplete penetrance. Later studies ({2:McIntyre, 1968}) yielded results that make a simple genetic hypothesis difficult to support. As pointed out by {4:Twomey (1975)}, pernicious anemia shows a 10-fold increase in patients with multiple myeloma and a 250-fold increase in adults with immunoglobulin deficiency." +170980,"{1:Crutchfield and Gutmann (1973)} found that the accessory deep peroneal nerve, a branch of the superficial peroneal nerve, partially innervated the extensor digitorum brevis muscle of at least one foot in 22 of 100 healthy unrelated persons. Five families studied because of a member with anomalous innervation yielded results the authors interpreted as indicating dominant inheritance." +170990,"Salivary peroxidase is polymorphic; leukocyte peroxidase is not ({1:Azen, 1977}). Azen concluded that homozygosity for a recessive gene determines a phenotype of fast electrophoretic mobility (SAPX-1). SAPX-2 and SAPX-3 phenotypes are each determined by a dominant allele at the locus of the recessive allele. Furthermore, {1:Azen (1977)} found precise correlation between acid protein types (Pa; {168730}) and peroxidase types. This suggested to him that the peroxidase polymorphism is due not to mutation in its structural gene but to modification of the SAPX-1 gene product by the products of the Pa locus.\n\nData on gene frequencies of allelic variants were tabulated by {2:Roychoudhury and Nei (1988)}." +171100,"{1:Miller et al. (1968)} described a familial disorder of phagocytosis due to a plasma-associated defect rather than a primary defect of polymorphonuclear leukocyte function. Leukocytes from the proband, incubated in her own plasma, showed greatly diminished ability to ingest yeast, rice-starch, or Staphylococcus aureus, but ingested the same particles normally in the presence of heterozygote plasma. Normal leukocytes showed impaired phagocytosis when incubated in plasma from the patient. The mother and many relatives had plasma that gave the same result. The father and 2 sibs were 'negative.' Both maternal grandparents and sibs of both of them were 'positive.' Consanguinity of these grandparents was considered possible but not proved. Infusion of fresh plasma corrected the deficiency of opsonization and was regularly followed by clinical improvement. The possibility of nonpaternity was apparently not investigated. A priori, recessive inheritance would seem more likely, the proband being homozygous." +171300,"Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary ({29:Maher and Eng, 2002}; {13:Dluhy, 2002}).\n\n{3:Bolande (1974)} introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.\n\n{28:Knudson and Strong (1972)} applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.\n\n{29:Maher and Eng (2002)} reviewed the clinical entities and genes associated with pheochromocytoma." +171400,"Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid adenomas. MEN2B ({162300}), characterized by MTC with or without pheochromocytoma and with characteristic clinical abnormalities such as ganglioneuromas of the lips, tongue and colon, but without hyperparathyroidism, is also caused by mutation in the RET gene (summary by {61:Lore et al., 2001}).\n\nFor a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 ({131100})." +171420,"{1:Carney et al. (1980)} suggested that pheochromocytoma and/or islet cell tumor is an autosomal dominant endocrine adenomatosis distinct from MEA I, II and III. They reported 3 families. Among 11 affected patients (aged 5 to 53 years), 10 had pheochromocytoma (bilateral in 6), 4 had islet cell tumor (multicentric in 1), and 3 had both tumors. Clinical presentation was due to pheochromocytoma in 10 (symptoms or signs beginning before age 10 years in 3) and islet cell tumor in 1. Two patients died from pheochromocytoma and 2 from islet cell carcinoma. One of their probands had numerous cafe-au-lait spots up to 4 cm in diameter and axillary freckling. There was, however, no family history of von Recklinghausen disease. Most of the other families in the literature with this combination of endocrine tumors had von Hippel-Lindau disease (VHL; {193300}). For example, {2:Hull et al. (1979)} reported sibs with VHL syndrome who had both pheochromocytoma and islet cell adenomas. Thus, the case for a separate pheochromocytoma-islet cell tumor cannot be considered proved. {3:Zeller et al. (1982)} reported the eleventh case of this association." +171450,"{1:Reed (1974)} described a kindred in which many members developed dilated veins on the lips, mainly the lower lip, with advancing years. Male-to-male transmission was observed." +171480,"{2:Stoll et al. (1974)} reported father and son with this combination. The arms were severely involved, with absent thumbs and index fingers. The father had bilateral deformity of the pinnae, more marked on the left, with stenosis of the external auditory canal and deafness on that side. The philtrum was long and prominent. The sinus arrhythmia consisted of variable P-P intervals in the electrocardiogram without relationship to respiration. They found no report of this precise combination. {1:Harding et al. (1982)} described mother and daughter with radial dysplasia, dysmorphic facies, conductive deafness, and external ear deformity. The facial appearance of the mother suggested mild maxillary hypoplasia. The right thumb was absent and a flexion contracture of the index finger was present on the right. The changes on the left were more severe with dislocation of the shoulder, absence of the radius, and marked shortening and bowing of the ulna, as well as absence of the thumb and hypoplasia of the second ray. The daughter had similar facial features and a long philtrum. Her right pinna was primitively formed and she had bilateral mesomelic shortening of the arms with rudimentary or absent thumbs. On the left, the radius was absent; on the right, there was a total synostosis of the shortened radius and ulna. {1:Harding et al. (1982)} suggested that their patients had the same disorder as that in the father and son reported by {2:Stoll et al. (1974)}." +171660,"{2:Swallow and Harris (1972)} found a new variant in placental and leukocyte acid phosphatase. Their findings and those of {1:Beckman et al. (1970)} (see {171650}) suggested to them that the acid phosphatase molecule is a dimer, that 2 dissimilar subunits (alpha and beta) can be present, and that the 3 isozymes in placenta and leukocytes are alpha-alpha (A), alpha-beta (B), and beta-beta (C) in composition. Their new variant appeared to involve 1 subunit, that which they designated alpha. Both alpha and beta loci may be on chromosome 11; if this is the case, it would be an exception to the usual situation that the components of heteromeric proteins, e.g., hemoglobin, are coded by separate chromosomes." +171720,"Other quantitative trait loci involved in the plasma level of alkaline phosphatase (see {171760}) include ALPQTL2 ({612367}) on chromosome 1p36, ALPQTL3 ({612368}) on chromosome 6p22, and ALPQTL4 ({612369}) on chromosome 10q21." +171860,"The PFKL gene encodes the liver isoform of phosphofructokinase (PFK) (ATP:D-fructose-6-phosphate-1-phosphotransferase, {EC 2.7.1.11}). PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis.\n\nMammalian PFK is a tetramer made up of various combinations of 3 subunits: muscle (PFKM; {610681}), liver (PFKL), and platelet (PFKP; {171840}), the genes for which are located on chromosomes 12q13, 21q22, and 10p, respectively. The composition of the tetramers differs according to the tissue type. Muscle and liver PFK are a homotetramers of 4M and 4L subunits, respectively. Erythrocytes contain both L and M subunits, which randomly tetramerize to form M4, L4, M3L, M2L2, and ML3 hybrid forms of the holoenzyme ({16:Vora et al., 1980}; {12:Raben and Sherman, 1995})." +172110,"In human milk, a fourth PGM locus is expressed. The products of 4 alleles are demonstrable by electrophoresis ({1:Ibarra and Cantu, 1981}). Nonlactating breast tissue does not show PGM4 activity. The frequency of each of the 4 alleles was estimated to be as follows: PGM4(1) = 0.346; PGM4(2) = 0.475; PGM4(3) = 0.114; PGM4(4) = 0.065." +172290,"Pgp-1 glycoprotein, as it is termed in the mouse, was first demonstrated in that species. It is a polymorphic cell-surface antigen present in many tissues and is coded by a gene on mouse chromosome 2. {1:Isacke et al. (1986)} identified and characterized the homologous protein in man. In both species, it is an abundant plasma membrane component of fibroblasts and is uniformly distributed over the cell surface. It has a large extracellular domain. It can be metabolically labeled with (32)P exclusively on serine residues indicating that it is a transmembrane glycoprotein ({1:Isacke et al., 1986}). Both this glycoprotein and the Thy-1 glycoprotein ({188230}) are abundant on mouse thymocytes but are not expressed on human thymocytes." +172700,"Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by {20:Piguet et al., 2011}).\n\n{12:Kertesz (2003)} suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy ({601104}), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies." +172800,"Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by {32:Thomas et al., 2004})." +172870,"Pigmented paravenous chorioretinal atrophy is a stationary disease of the ocular fundus in which bone corpuscle pigmentation is seen in a paravenous distribution. Patients are usually asymptomatic; diagnosis is based on the characteristic fundus appearance. Most cases have been reported in males (summary by {6:Traboulsi and Maumenee, 1986})." +172900,"{2:Gould and Farber (1966)} described a family in which 6 persons in 3 generations (with 1 instance of male-to-male transmission) showed a bilaterally symmetrical pigmented and purpuric eruption beginning early in life. The condition may be the same as {4:Schamberg (1901)} disease which {1:Baden (1964)} observed in father and son. It may be the same condition as that denominated Majocchi disease by {3:Honda et al. (1997)}, who described the disorder in an infant boy and his mother. The lesions were first noted in the boy on the soles of the feet 7 days after birth. The eruptions gradually increased in number on the dorsa of the feet and on the legs. He was seen at 2 months of age because of small red or brownish annular eruptions on his lower extremities. The mother had been diagnosed in the same dermatology department as having Majocchi disease at 20 years of age. Her skin lesions disappeared gradually, leaving a livedoid eruption on the legs. The lesions in Majocchi disease are described as annularly arranged telangiectases on the lower legs, with petechiae developing later at the borders of the lesions." +173000,"{1:Holmes and Turner (1969)} observed 9 affected members in a family in a pattern consistent with autosomal dominant inheritance, although no male-to-male transmission was observed. However, father-son transmission was noted by {2:Stone (1924)}." +173100,"Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at presentation, and good response to rhGH. Patients may show anterior pituitary hypoplasia on MRI (summary by {9:Phillips and Cogan, 1994}; {1:Alatzoglou and Dattani, 2012})." +173200,"Pityriasis rubra pilaris is an uncommon skin disorder characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic, although up to 6.5% of PRP-affected individuals report a positive family history. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression: the disorder is usually present at birth or appears during the first years of life and is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema, with only a modest response to treatment (summary by {2:Fuchs-Telem et al., 2012})." +173360,"The SERPINE1 gene encodes endothelial plasminogen activator inhibitor-1 (PAI1), a member of the serine protease inhibitor family that inhibits tissue-type plasminogen activator (PLAT; {173370}) and urokinase-type plasminogen activator (PLAU; {191840}). PLAT and PLAU proteolytically activate plasminogen (PLG; {173350}) into plasmin, which breaks down fibrin clots. Thus, SERPINE1 negatively regulates fibrinolysis and impairs the dissolution of clots ({11:Ginsburg et al., 1986}; {23:Mehta and Shapiro, 2008})." +173395,"{2:Tabakoff et al. (1988)} demonstrated that platelet adenylate cyclase (AC) activity, when stimulated in vitro by several compounds including cesium fluoride, is significantly reduced in alcoholics compared with control subjects. Complex segregation analysis of basal, i.e., unstimulated, platelet adenylate cyclase activity in families revealed a pattern of distribution that could not be accounted for by a simple mixed model of transmission. On the other hand, {1:Devor et al. (1991)} found that adenylate cyclase activity stimulated by fluoride ion occurred in a family pattern consistent with a single major locus effect with a modest multifactorial background." +173420,"{1:Dowton et al. (1985)} found that at least 22 members of a large kindred had a bleeding tendency resulting from an autosomal dominant disorder of platelet production and function. Phenotypic features included mild to moderate thrombocytopenia, prolonged bleeding time, and abnormal platelet aggregation. Platelet survival time was normal. The disorder seemed to be separate from any known thrombocytopenic or thrombocytopathic syndrome. Hematologic neoplasms had developed in 6 family members; 2 had neuroblastoma ({256700}). The authors listed a considerable number of reported families with an autosomal dominant platelet disorder of ill-defined or undefined nature." +173450,"{1:Minkoff et al. (1980)} described a case of congenital intrinsic deficiency of the platelet membrane phospholipid, platelet factor-3, which plays an important role in acceleration of coagulation. The proband, a 28-year-old woman, had had lifelong excessive bleeding, without a family history of same." +173470,"The ITGB3 gene encodes glycoprotein IIIa (GP IIIa), the beta subunit of the platelet membrane adhesive protein receptor complex GP IIb/IIIa. The alpha subunit, GP IIb, is encoded by the ITGA2B gene ({607759}). The GP IIb/IIIa complex belongs to the integrin class of cell adhesion molecule receptors that share a common heterodimeric structure with alpha and beta subunits (summary by {6:Bray et al., 1987} and {3:Bajt et al., 1992}).\n\nGlycoprotein IIIa is also the beta subunit of 2 other integrins, fibronectin receptor (FNRB; {135630}) and vitronectin receptor ({193210}), which have distinctive alpha subunits." +173500,"In a long review {2:Dausset and Tangun (1965)} discussed antigens common to red cells, leukocytes and platelets, those limited to one of these, and those shared by platelets and leukocytes. Ko and Zw ({10:van der Weerdt et al., 1963}) are two of the platelet systems. A third is Pl(E) ({173540}). Another, Duzo, is of uncertain relationship to the other three systems ({9:van der Weerdt and van Loghem, 1972}). The antiplatelet antibodies in idiopathic thrombocytopenic purpura ({4:Karpatkin et al., 1972}) might be useful in typing platelets. Transient neonatal thrombocytopenia can occur in multiple sibs on the basis of fetomaternal incompatibility for leukoplatelet antigens ({12:Vaudour et al., 1974}).\n\nAccording to the new nomenclature of platelet-specific alloantigens (see {13:von dem Borne and Decary, 1990}), HPA-2 is the designation for Ko and Sib. The allele of high frequency is called 'a', whereas that of low frequency is called 'b'.\n\nIn a patient who developed platelet transfusion refractoriness while receiving HLA-compatible platelets, {7:Saji et al. (1989)} demonstrated a 'new' platelet-specific alloantigen which they designated Sib(a) after the name of the patient of Japanese extraction. Family studies showed that Sib(a) is inherited as an autosomal codominant trait and is separate from both HLA and Bak(a). Segregation from other platelet antigen systems had not been determined. Frequency of the Sib(a) gene in the Japanese population was estimated to be 0.136.\n\nData on gene frequencies of allelic variants were tabulated by {6:Roychoudhury and Nei (1988)}." +173540,See {173500}. +173600,"Birt-Hogg-Dube syndrome (BHD; {135150}), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is caused by mutation in the FLCN gene. {5:Gunji et al. (2007)} suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance.\n\nSpontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome ({154700}) and the Ehlers-Danlos syndrome (see, e.g., {130000}). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency ({613490})." +173650,"Kindler syndrome is an autosomal recessive dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling (summary by {6:Jobard et al., 2003})." +173800,"Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland sequence, it was first described by {36:Poland (1841)}.\n\nPoland syndrome is most commonly a sporadic condition ({12:David, 1982}; {33:Opitz, 1982}), but familial cases have been reported." +173900,"PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by {114:Wu and Somlo, 2000}).\n\n<Subhead> Genetic Heterogeneity of Polycystic Kidney Disease\n\nAlso see polycystic kidney disease-2 (PKD2; {613095}), caused by mutation in the PKD2 gene ({173910}) on chromosome 4q22; PKD3 ({600666}), caused by mutation in the GANAB gene ({104160}) on chromosome 11q13; PKD4 ({263200}), caused by mutation in the PKHD1 gene ({606702}) on chromosome 6p12; PKD5 ({617610}), caused by mutation in the DZIP1L gene ({617570}) on chromosome 3q22; and PKD6 ({618061}), caused by mutation in the DNAJB11 gene ({611341}) on chromosome 3q27." +174000,"Autosomal dominant tubulointerstitial kidney disease-2 (ADTKD2) is characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade. Renal biopsy shows tubulointerstitial nephropathy, sometimes with the formation of renal cysts at the corticomedullary junction, although cysts are not pathognomonic for the disease and are not an essential criterion for the diagnosis. More variable features may include anemia, hypertension, hyperuricemia, and gout; urinary sediment is bland. The features are nonspecific and there is significant inter- and intrafamilial variability, as well as incomplete penetrance, which may hinder the clinical diagnosis (summary by {21:Stavrou et al., 2002}, {28:Wolf et al., 2004}; review by {9:Devuyst et al., 2019}).\n\nFor a discussion of genetic heterogeneity of ADTKD and a discussion of the revised nomenclature of these disorders, see ADTKD1 ({162000})." +174050,"Polycystic liver disease-1 is an autosomal dominant condition characterized by the presence of multiple liver cysts of biliary epithelial origin. Although the clinical presentation and histologic features of polycystic liver disease in the presence or absence of autosomal dominant polycystic kidney disease (see, e.g., PKD1, {173900}) are indistinguishable, PCLD1 is a genetically distinct form of isolated polycystic liver disease (summary by {9:Reynolds et al., 2000}). A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by {2:Cnossen and Drenth, 2014}).\n\n<Subhead> Genetic Heterogeneity of Polycystic Liver Disease\n\nSee also PCLD2 ({617004}), caused by mutation in the SEC63 gene ({608648}) on chromosome 6q21; PCLD3 ({617874}), caused by mutation in the ALG8 gene ({608103}) on chromosome 11p; and PCLD4 ({617875}), causes by mutation in the LRP5 gene ({603506}) on chromosome 11q13." +174200,"Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by {17:Umm-e-Kalsoom et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Postaxial Polydactyly\n\nOther forms of postaxial polydactyly type A include PAPA2 ({602085}) on chromosome 13q21; PAPA3 ({607324}) on chromosome 19p13; PAPA4 ({608562}) on chromosome 7q22; PAPA5 ({263450}) on chromosome 13q13; PAPA6 ({615226}), caused by mutation in the ZNF141 gene ({194648}) on chromosome 4p16; PAPA7 ({617642}), caused by mutation in the IQCE gene ({617631}) on chromosome 7p22; PAPA8 ({618123}), caused by mutation in the GLI1 gene ({165220}) on chromosome 12q13; PAPA9 ({618219}), caused by mutation in the FAM98A gene ({617273}) on chromosome 8q22; and PAPA10 ({618498}), caused by mutation in the KIAA0825 gene ({617266}) on chromosome 5q15." +174300,"Orofaciodigital syndrome V (OFD5) is an autosomal recessive disorder characterized by cleft palate/uvula, lobulated tongue, frontal bossing, hypertelorism, postaxial polydactyly, and impaired intellectual development (summary by {1:Faily et al., 2017})." +174310,{1:Czeizel and Brooser (1986)} found a disorder of postaxial polydactyly and progressive myopia in 9 persons in 4 generations of a family in an autosomal dominant pedigree pattern. There was no instance of male-to-male transmission. The proband also had bilateral congenital inguinal hernias and undescended testes but the former condition came from the other side of the family. +174400,"Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. Preaxial polydactyly I, 'thumb polydactyly,' involves duplication of 1 or more of the skeletal components of a biphalangeal thumb. Severity varies from mere broadening of the distal phalanx with slight bifurcation at the tip to full duplication of the thumb including the metacarpals. This type is the most frequent form of polydactyly in many populations ({9:Handforth, 1950})." +174700,"Although both preaxial polydactyly and syndactyly are cardinal features of this malformation, it is classified as a form of polydactyly because syndactyly does not occur in the absence of polydactyly ({9:McClintic, 1935}), the opposite not being true. On the other hand, polysyndactyly is here classified as a type of syndactyly because polydactyly (of the third or fourth fingers and fifth toes) does not occur in the absence of syndactyly. The thumb shows only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4. The foot malformation is more constant and consists of duplication of part or all of the first or second toes and syndactyly affects all of the toes, especially the second and third." +174750,"By study of mouse-human hybrid cells, {1:Wright and Shows (1978)} assigned to chromosome 10 a human gene that in combination with the murine genome induces formation of multinucleate cells in rat cell line." +174770,"Hereditary polymorphic light eruption is a form of photosensitivity found in the American Indians of the central plains of Canada and the United States and in the Indians of Central and South America. The disorder has also been called familial actinic prurigo, solar dermatitis, and hydroa aestivale. In northern latitudes, skin lesions appear on exposed areas early in spring, become severe during the summer, and abate in the fall. Usually the disorder appears in childhood with eczematous crusted eruptions on the face and arms. Fissured, crusted exudative cheilitis develops on the lips, especially the lower lip. The dorsum of the hands, the laterodorsal aspects of the forearms, and the lower half of the arms often show excoriated papular and nodular lesions. Children frequently have complicating pyoderma. Adults usually exhibit an erythematous plaquelike eruption on the face and other exposed areas. The disease is more severe in children than in adults. Glomerulonephritis can follow streptococcal pyoderma (summary by {4:Fusaro and Johnson, 1980})." +174800,"Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome ({219080}) ({42:Lumbroso et al., 2004})." +174810,"Familial expansile osteolysis is an autosomal dominant bone dysplasia characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton. There is medullary and cortical expansion of the bone without sclerosis, leading to painful and disabling deformities and tendency to pathologic fracture. Clinical features include onset of conductive hearing loss in childhood, premature loss of teeth, and variably increased serum alkaline phosphatase (summary by {9:Palenzuela et al., 2002} and {4:Elahi et al., 2007})." +174900,"Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases ({10:Handra-Luca et al., 2005}).\n\nIt had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene ({601728}), the same gene that is mutant in Cowden syndrome-1 ({158350}). In a comprehensive review of PTEN, {39:Waite and Eng (2002)} concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS." +175050,"The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS; {174900}) and hereditary hemorrhagic telangiectasia (HHT; {187300}) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by {7:Gallione et al., 2010})." +175100,"Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum ({139:Nishisho et al., 1991}).\n\n{158:Rustgi (2007)} reviewed the genetics of hereditary colon cancer, including APC.\n\n<Subhead> Genetic Heterogeneity of Familial Adenomatous Polyposis\n\nSee also autosomal recessive FAP2 ({608456}), caused by mutation in the MUTYH gene ({604933}) on chromosome 1p34; autosomal recessive FAP3 ({616415}), caused by mutation in the NTHL1 gene ({602656}) on chromosome 16p13; and autosomal recessive FAP4 ({617100}), caused by mutation in the MSH3 gene ({600887}) on chromosome 5q11." +175200,"Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms." +175400,"{2:Woolf et al. (1955)} suggested that some families have scattered polyps as a dominant trait distinct from multiple polyposis of the colon. The kindred of {1:Lindberg and Kock (1975)} had these features. However, studies of polyposis I families ({175100}) show such wide variability in the number of polyps that it is difficult to accept the idea that a separate mutation exists. The evidence is, to say the least, inconclusive." +175450,"{1:Fuchs (1975)} described multiple exostoses ({133700}) in a 41-year-old man and his 2 sons, aged 11 and 15 years. The older son had extensive polyposis of the sigmoid colon and gastric antrum. The younger son had x-ray changes suggestive of sigmoid polyposis, whereas x-ray studies in the father were negative for signs of polyposis." +175500,"Cronkhite-Canada syndrome is characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. It is associated with high morbidity (summary by {5:Sweetser et al., 2012})." +175510,"GIST-plus syndrome (GISTPS) is an autosomal dominant disorder characterized by incomplete penetrance of multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor (GIST), inflammatory fibroid polyps (IFP), and fibroid tumors (FT). Some patients have been reported with coarse facies and skin, broad hands and feet, and premature tooth loss. Isolated GISTs and IFPs are seen in patients with somatic PDGFRA mutations (summary by {8:Manley et al., 2018})." +175700,"Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated with pre- and postaxial polydactyly and variable syndactyly. The phenotype shows variable expressivity and can also include craniosynostosis. Affected individuals usually have normal psychomotor development (summary by {16:Gorlin et al., 2001})." +175750,"{1:Toyama (1972)} described 3 affected males, all first cousins, each in a different sibship. The relevant parents were 2 brothers and a sister, all affected. Presumably there was no consanguinity in the family. Autosomal dominant inheritance with reduced penetrance seems possible. Collaboration of a structural predisposition and repeated minor trauma may be involved in causation." +175780,"Brain small vessel disease-1 is an autosomal dominant disorder with variable manifestations resulting from disruption of vascular basement membranes, particularly in the cerebral vasculature. The increased fragility of these vessels render them susceptible to hemorrhage, as early as in utero or by birth trauma, although the risk remains throughout life and some patients may present in adulthood. This genetic predisposition may extend beyond hemorrhagic stroke to include retinal and renal vascular defects. Clinical features thus reflect the location and severity of the vascular defect, including impaired neurologic development or function, hemiplegia, seizures, and variable ocular anomalies. The disturbed vasculature leads to cerebral degeneration, and brain imaging typically shows 'porencephaly,' hemosiderin deposition, calcifications, lacunar infarcts, enlarged ventricles, and leukoencephalopathy. Some patients may show 'schizencephaly' on brain imaging, which is also attributed to encephaloclastic processes, such as vascular injury. The disorder shows variable penetrance and expressivity (summary by {16:Merello et al., 2008}, {9:Gould et al., 2006}; {21:Shah et al., 2012}; {27:van der Knaap et al., 2006}; {29:Yoneda et al., 2013}).\n\n'Porencephaly' is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called 'schizencephalic', or type 2, porencephaly, is usually symmetric and may represent a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common ({2:Airaksinen, 1984}; {20:Sensi et al., 1990}).\n\n<Subhead> Genetic Heterogeneity of Brain Small Vessel Disease\n\nSee also BSVD2 ({614483}), caused by mutation in the COL4A2 gene ({120090}) on chromosome 13q34; and BSVD3 ({618360}), caused by mutation in the COLGALT1 gene ({617531}) on chromosome 19p13." +175800,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({10:Schamroth et al., 1997}). However, as noted by {11:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and several individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as porokeratosis of Mibelli, porokeratoma, genital porokeratosis, hyperkeratotic porokeratosis, and linear porokeratosis.\n\nThe preferred title of this entry was formerly 'Porokeratosis 1, Mibelli Type; POROK1.'\n\n<Subhead> Genetic Heterogeneity of Porokeratosis\n\nAlso see porokeratosis-2 (POROK2; {175850}), mapped to chromosome 12q24; POROK3 ({175900}), caused by mutation in the MVK gene ({251170}) on chromosome 12q24; POROK4 ({607728}), mapped to chromosome 15q25-q26; POROK5 ({612293}), mapped to chromosome 1p31; POROK6 ({612353}), mapped to chromosome 1p31; POROK7 ({614714}), caused by mutation in the MVD gene ({603236}) on chromosome 16q24; POROK8 ({616063}), caused by mutation in the SLC17A9 gene ({612107}) on chromosome 20q13; and POROK9 ({616631}), caused by mutation in the FDPS gene ({134629}) on chromosome 1q22.\n\nA palmoplantar form of punctate porokeratosis has also been described (PPKP2; {175860}).\n\n<Subhead> Genotype/Phenotype Correlations\n\n{14:Zhang et al. (2015)} screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified mutations in the MVK, MVD, PMVK, and FDPS genes in 113 patients. The authors noted that giant plaque-type porokeratosis ptychotropica with lesion diameters of at least 5 cm appeared to be uniquely associated with mutation in MVK; it was observed in 19 (50%) of 38 MVK probands, but not in patients with mutations in any of the other 3 genes or in the 21 probands in whom no mutation was found. MVK patients also showed the widest range in terms of the number and size of lesions, as well as presence of porokeratosis subtypes. In patients with MVD mutations, the age of onset ranged from 5 to 70 years, and lesion diameters were generally less than 2 cm. In addition, 6 of the 62 MVD probands exhibited solar facial porokeratosis, which was not seen in any other patients. Localized genital porokeratosis and porokeratoma appeared to be uniquely associated with mutation in the PMVK gene, whereas patients with mutations in the FDPS gene had more than 500 lesions, all with diameters of 1 cm or less." +175850,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({2:Schamroth et al., 1997}). However, as noted by {3:Sybert (2010)}, families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nPorokeratosis palmaris plantaris et disseminata (PPPD) is a subtype in which lesions initially develop on the palms and soles, but later involve other parts of the body, including the trunk and limbs ({4:Wei et al., 2003}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {174800}." +175900,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({12:Schamroth et al., 1997}). However, as noted by {13:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear porokeratosis.\n\nThe preferred title of this entry was formerly 'Porokeratosis 3, Disseminated Superficial Actinic Type; POROK3.'\n\nDisseminated superficial actinic porokeratosis is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {15:Wu et al., 2004} and {18:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}." +176000,"Porphyrias are inherited defects in the biosynthesis of heme. Acute intermittent porphyria, the most common form of porphyria, is an autosomal dominant disorder characterized by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances. In the classic form of AIP, both the ubiquitous 'nonerythroid' housekeeping HMBS isoform and the 'erythroid' HMBS isoform are deficient. However, about 5% of families have the 'nonerythroid variant' of AIP, with a defect only in the ubiquitous nonerythroid HMBS isoform and normal levels of the erythroid HMBS isoform. Clinical characteristics in the 2 forms are identical; diagnostic methods based on the level of enzyme in erythrocytes are ineffective ({54:Puy et al., 1998}; {47:Petrides, 1998}; {73:Whatley et al., 2000}).\n\nThere are several other forms of porphyria: see porphyria cutanea tarda ({176100}), variegata porphyria ({176200}), coproporphyria ({121300}), acute hepatic porphyria ({125270}), and congenital erythropoietic porphyria ({263700})." +176090,"{4:De Verneuil et al. (1978)} classified porphyria cutanea tarda (PCT), the most common type of porphyria, into 2 types: type I, or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD; {613521}) in liver ({5:Elder et al., 1978}; {7:Felsher et al., 1982}), and type II, or 'familial' type ({176100}), characterized by 50% deficient activity of the same enzyme in many tissues ({8:Kushner et al., 1976}; {6:Elder et al., 1980}).\n\nType I is the most common form of PCT, comprising 70 to 80% of cases. The causes of the deficiency are often unclear and are probably multifactorial (review by {9:Lambrecht et al., 2007})." +176100,"Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine ({18:Elder et al., 1980}).\n\n{12:De Verneuil et al. (1978)} and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I ({176090}), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver ({17:Elder et al., 1978}; {22:Felsher et al., 1982}), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues ({34:Kushner et al., 1976}; {18:Elder et al., 1980}).\n\nPCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene ({613609}) that are responsible for hereditary hemochromatosis ({235200}) (review by {39:Lambrecht et al., 2007})." +176200,"Variegate porphyria is characterized by cutaneous manifestations, including increased photosensitivity, blistering, skin fragility with chronic scarring of sun-exposed areas, and postinflammatory hyperpigmentation. Acute exacerbations of VP include abdominal pain, the passage of dark urine, and neuropsychiatric symptoms that characterize the acute hepatic porphyrias, such as bulbar paralysis, quadriplegia, motor neuropathy, and weakness of the limbs. In heterozygotes, PPOX activity is decreased by about 50% (summary by {9:Frank et al., 1998})." +176270,"Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. {102:Horsthemke and Wagstaff (2008)} provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome ({105830}) region.\n\nSee also the chromosome 15q11-q13 duplication syndrome ({608636}), which shows overlapping clinical features." +176400,"Early activation of the hypothalamic-pituitary-gonadal axis results in gonadotropin-dependent precocious puberty, also known as central precocious puberty, which is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Pubertal timing is influenced by complex interactions among genetic, nutritional, environmental, and socioeconomic factors. The timing of puberty is associated with risks of subsequent disease: earlier age of menarche in girls is associated with increased risk of breast cancer, endometrial cancer, obesity, type 2 diabetes, and cardiovascular disease. Central precocious puberty has also been associated with an increased incidence of conduct and behavior disorders during adolescence (summary by {1:Abreu et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Central Precocious Puberty\n\nCentral precocious puberty-2 (CPPB2; {615346}) is caused by mutation in the MKRN3 gene ({603856}) on chromosome 15q11." +176410,"Familial male precocious puberty is a gonadotropin-independent disorder that is inherited in an autosomal dominant, male-limited pattern. Affected males generally exhibit signs of puberty by age 4 years ({13:Shenker et al., 1993})." +176600,"A nonspecific type of familial presenile dementia apparently distinct from both Alzheimer disease ({104300}) and Pick disease ({172700}) was described by {1:Schaumburg and Suzuki (1968)} in 6 persons in 3 generations with male-to-male transmission. The histologic changes corresponded to those described for Kraepelin disease ('catatonia of Kraepelin'). In 4 of the 6 persons, onset was at a very early age: 28, 31, 33 and 34 years." +176620,"In about half the cases of priapism, no cause is identified and the label of 'idiopathic' is assigned. {1:Nagler et al. (1984)} described 3 Iranian brothers with idiopathic priapism. The father, who was deceased, 'was alleged to have been hospitalized for priapism but this could not be verified.'" +176670,"Hutchinson-Gilford progeria syndrome is a rare disorder characterized by short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early death. Cognitive development is normal. Onset is usually within the first year of life (review by {31:Hennekam, 2006}). The designation Hutchinson-Gilford progeria syndrome appears to have been first used by {16:DeBusk (1972)}.\n\nA subset of patients with heterozygous mutations in the LMNA gene and a phenotype similar to HGPS have shown onset of the disorder in late childhood or in the early teenage years, and have longer survival than observed in classic HGPS ({11:Chen et al., 2003}; {30:Hegele, 2003}).\n\nOther disorders with a less severe, but overlapping phenotype include mandibuloacral dysplasia (MADA; {248370}), an autosomal disorder caused by homozygous or compound heterozygous mutations in the LMNA gene, dilated cardiomyopathy with hypergonadotropic hypogonadism ({212112}), caused by heterozygous mutation in the LMNA gene, and Werner syndrome ({277700}), an autosomal recessive progeroid syndrome caused by homozygous or compound heterozygous mutations in the RECQL2 gene ({604611})." +176690,"Mulvihill-Smith syndrome is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and mental retardation. Immunodeficiency may also be a feature. Adult manifestations include the development of tumors, a sleep disorder with severe insomnia, and cognitive decline (summary by {13:Yagihashi et al., 2009})." +176700,"Mandibular prognathism is a dentofacial anomaly characterized by protrusion of the mandible, with lower incisors often overlapping the upper incisors. The protruding lower jaw is caused by a forward positioning of the mandible itself (summary by {11:Stiles and Luke, 1953})." +176770,"By fusing Chinese hamster ovary cells with a specific auxotrophy for proline with human cells, {2:Jones (1975)} found that of 63 hybrid clones, 27 possessed both proline and cytoplasmic glutamate oxaloacetate transaminase (GOT1; {138180}), 36 had neither, and no clones were found possessing one and not the other. The results were taken as evidence that the proline marker and GOT1 are syntenic. Since GOT1 is on chromosome 10, the proline-negative auxotroph must be on this chromosome as well. The defect would be called an epigenetic change by Morgan {1:Harris (1984)}; it involves methylation of the gene." +176780,"Female pelvic floor disorders, including pelvic organ prolapse (POP), urinary incontinence, and stress urinary incontinence, affect over one-third of adult women ({1:Bump and Norton, 1998}). These disorders are characterized by weakening of the tissues supporting and anchoring the pelvic organs, which can affect both structure and function of the vagina, uterus, bladder, anus, and intestines." +176800,{1:Thompson et al. (1968)} described a family in which males in 3 successive generations had limitation in pronation and supination of the forearms. Radioulnar synostosis ({179300}) was not present. +176860,"Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic ({23:Millar et al., 2000}). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency ({4:Bertina et al., 1984}).\n\nAcquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. {8:Clouse and Comp (1986)} reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C." +176900,{1:Jacobsen (1968)} concluded that low proteolytic capacity is inherited as an autosomal dominant. Increased tendency to thrombosis did not occur in these persons. +176920,"Proteus syndrome is a highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Specific features include cerebriform connective tissue nevus, thin limbs, lipomas, and lung cysts. Some patients may have intellectual disability with dysmorphic facies. Deep venous thrombosis is common and constitutes a significant risk factor. Many features of Proteus syndrome overlap with other overgrowth syndromes ({48:Turner et al., 2004}; review by {18:Cohen, 2014}).\n\n{18:Cohen (2014)} provided a detailed review of the clinical features, diagnosis, and management issues of Proteus syndrome.\n\nSome authors ({53,52:Zhou et al., 2000, 2001}; {45:Smith et al., 2002}) have reported a 'Proteus-like' syndrome associated with germline and tissue-specific somatic mutations in the PTEN gene ({601728}), which is mutated in Cowden syndrome (CWS1); see {158350} for a discussion of these patients." +177000,"Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels ({48:Todd, 1994}).\n\n<Subhead> Genetic Heterogeneity of Erythropoietic Protoporphyria\n\nAlso see X-linked erythropoietic protoporphyria (XLEPP; {300752}), caused by mutation in the ALAS2 gene ({301300}) on chromosome Xp11, and EPP2 ({618015}), caused by mutation in the CLPX gene ({615611}) on chromosome 15q22." +177100,{1:Comings and Comings (1965)} described the entity in 8 members of 3 sibships in 2 generations in a pattern consistent with either autosomal or X-linked dominant inheritance. Onset was in the third decade and the itching was located in an area overlying the lower end of one scapula or the other. +177170,"Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, deformity of the lower limbs, brachydactyly, loose joints, and ligamentous laxity. Vertebral anomalies, present in childhood, usually resolve with age, but osteoarthritis is progressive and severe. PSACH and EDM1 comprise a clinical spectrum with phenotypic overlap between mild forms of PSACH and EDM1 (summary by {1:Briggs and Chapman, 2002})." +177200,"Liddle syndrome is an autosomal dominant disorder characterized by early-onset salt-sensitive hypertension, hypokalemia, metabolic alkalosis, and suppression of plasma renin activity and aldosterone secretion (summary by {20:Yang et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Liddle Syndrome\n\nLiddle syndrome-2 ({618114}) is caused by mutation in the SCNN1G gene ({600761}), which encodes the ENaC gamma subunit. Liddle syndrome-3 ({618126}) is caused by mutation in the SCNN1A gene ({600228}), which encodes the ENaC alpha subunit.\n\n{8:Hanukoglu and Hanukoglu (2016)} provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases." +177300,"{1:Pasma and Wildervanck (1956)} described a grandmother, her daughter and 3 granddaughters with rigidity of the elbows and knees. The grandmother showed bony ankylosis at the elbow and proximal fusion of the tibia and fibula. They pointed out a similarity to the cases in females in 3 generations described by {2:Siwon (1928)}. In the latter family the rigidity appears to have been confined to the elbows. One patient was shown to have bilateral fusion of the humerus, radius and ulna as in one of the patients of {1:Pasma and Wildervanck (1956)}. See also pronation-supination of forearm, impairment of ({176800}) and radioulnar synostosis ({179300})." +177350,Pseudoatrophoderma colli is an unusual papillary and pigmentary dermatosis of the neck in which the lesions appear atrophic. {2:Kauh et al. (1980)} described pseudoatrophoderma colli in 2 'Indian' (presumably American Indian) sisters and their father. {1:Frost and Epstein (1939)} described affected sisters. +177600,{1:Neitlich (1966)} described a kindred with increased plasma cholinesterase activity and decreased responsiveness to succinylcholine. +177650,"Exfoliation syndrome (XFS) is a common age-related disorder of the extracellular matrix that is frequently associated with severe chronic secondary open-angle glaucoma and cataract. XFS syndrome may affect up to 30% of people over 60 years of age worldwide and is biomicroscopically diagnosed by abnormal microfibrillar deposits on ocular structures that line the aqueous-bathed surfaces of the anterior segment (summary by {21:Schlotzer-Schrehardt and Naumann, 2006})." +177700,"Glaucomas are a group of common neurodegenerative diseases of the optic nerve and retinal ganglion cells, characterized by progressive cupping of the optic nerve head with resultant visual field loss. Elevated intraocular pressure (IOP) is a strong risk factor for glaucoma; however, glaucoma can occur at any IOP. The most common form of glaucoma in the US is primary open-angle glaucoma (POAG; see {137760}). POAG that occurs with an IOP below an arbitrary threshold of 21 mm Hg is often termed 'normal tension glaucoma' (summary by {4:Fingert et al., 2011}).\n\nFor a discussion of genetic heterogeneity of primary open angle glaucoma, see {137760}." +177735,"Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I (summary by {4:Geller et al., 1998}).\n\nAutosomal recessive pseudohypoaldosteronism type I (PHA1B; {264350}), caused by mutation in any one of 3 genes encoding the epithelial sodium channel (ENaC), is a similar but more severe systemic disorder with persistence into adulthood." +177750,"In monilethrix the hairs show regularly spaced fusiform, spindle-shaped or elliptical swellings. The nodes are the normal diameter of the shaft and the internodes represent atrophic parts. In pseudomonilethrix the nodes are irregularly spaced and the internodes represent the normal hair-shaft caliber. The latter condition was first described by {2:Bentley-Phillips et al. (1974)}. It is manifested by alopecia, as in true monilethrix." +177800,"{4:Hoyt and Pont (1962)} described 28 patients with an anomalous elevation of the optic disc, who were first thought to have brain tumors. Identical twins were affected. {9:McKusick (1963)} observed affected father and daughter and thought 'buried drusen' to be the cause. {5:Jacquemin (1964)} reported mother and 2 daughters. There may be more than one type of pseudopapilledema. {3:Fite and Lewis (1966)} described father and 2 sons with a type due apparently to 'hyperemia.' {11:Singleton et al. (1973)} reported 3 families with pseudopapilledema, which was present in 1 member of each of 3 generations in 1 family and in 1 member of each of 2 generations in the other 2 families. There was no case of male-to-male transmission in these kindreds.\n\n{6:Kurz-Levin and Landau (1999)} reviewed the clinical records of 142 patients with possible pseudopapilledema. Thirty-six of the 261 eyes reviewed had been imaged with 3 techniques: B-scan ultrasonography, CT scanning, and preinjection control photography. The authors concluded that drusen of the optic nerve head are most reliably diagnosed using B-scan echography.\n\n{2:Diduszyn et al. (2002)} reported bilateral visual loss in a patient with optic disc drusen (ODD) and POEMS syndrome (see {192240}). Visual loss occurred when the patient developed peripapillary choroidal neovascularization and subsequent hemorrhage in the subretinal space. The authors hypothesized that the elevated VEGF ({192240}) due to POEMS syndrome might have played a role in the development of choroidal neovascularization.\n\n{10:Purvin et al. (2004)} reviewed medical records of 20 patients who experienced an episode of nonarteritic anterior ischemic optic neuropathy (NAION; {258660}) in an eye with ODD. The authors found that their patients were strikingly similar to those with NAION unassociated with drusen with regard to prevalence of vascular risk factors, pattern of visual field loss, and occurrence of a subsequent similar event in the other eye. In contrast, however, patients with ODD and NAION were younger than those with NAION, were more likely to report preceding episodes of transient visual obscuration, and had a more favorable visual outcome." +177820,"Platelet-type von Willebrand disease, also known as pseudo-von Willebrand disease, is an autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation ({6:Murata et al., 1993}).\n\n{3:Miller (1996)} gave a comprehensive review of the disorder." +177900,"Psoriasis (psoriasis vulgaris; PV) is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is characterized by red, scaly skin patches that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age (summary by {51:Matthews et al., 1996}).\n\nGeneralized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein ({123260}) (summary by {50:Marrakchi et al., 2011}). GPP often presents in patients with existing or prior psoriasis vulgaris; however, GPP can develop without a history of PV ({76:Sugiura et al., 2013}). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by {72:Setta-Kaffetzi et al., 2013}).\n\n{56:Nestle et al. (2009)} provided a detailed review of the pathogenesis and genetics of psoriasis.\n\n<Subhead> Genetic Heterogeneity of Psoriasis and Psoriasis Susceptibility\n\nPSORS2 ({602723}) is caused by mutation in the CARD14 gene ({607211}) on chromosome 17q25, and PSORS14 ({614204}) is caused by mutation in the IL36RN gene ({605507}) on chromosome 2q14.\n\nPsoriasis susceptibility loci include PSORS1 on 6p21.3; PSORS3 ({601454}) on 4q; PSORS4 on 1q21; PSORS5 ({604316}) on 3q21; PSORS6 ({605364}) on 19p; PSORS7 ({605606}) on 1p; PSORS8 ({610707}) on 16q; PSORS9 ({607857}) on 4q31; PSORS10 ({612410}) on 18p11; PSORS11 ({612599}) on 5q31-q33; PSORS12 ({612950}) on 20q13; PSORS13 ({614070}), conferred by variation in the TRAF3IP2 gene ({607043}) on 6q21; and PSORS15 ({616106}), conferred by variation in the AP1S3 gene ({615781}) on 2q36.\n\nAn additional putative psoriasis candidate locus has been reported on 20p ({53:Nair et al., 1997})." +177990,"{1:Graham and Smith (1981)} described an 11-week old infant evaluated for possible XO Turner syndrome because of pterygium colli. She also showed low posterior hair line, protruding ears with an uplifted lower pinna bilaterally, loose facial skin, epicanthal folds, and a short nose. She did not have peripheral edema, and the remainder of the physical examination was normal. The karyotype was normal. The mother had webbing of the neck with low hair line posteriorly, and photographs revealed a webbed neck in otherwise normal maternal relatives of the preceding 3 generations. Ten of 19 persons at risk were affected, and male-to-male transmission was observed. {1:Graham and Smith (1981)} interpreted the webbing of the neck as a nonspecific consequence of early lymphatic obstruction, presumably arising from a lag in the formation of a communication between the developing jugular lymph sac and the internal jugular vein, an event that usually occurs between the fifth and sixth week of gestation. Distention of the jugular lymph sacs leads to overgrowth of the covering skin, rotation of the axis of the developing auricle posteriorly, elevation of the lower pinna, and altered hair directional patterning over the posterior neck." +178000,"Pterygium of the conjunctive refers to a wing-shaped thickening in the bulbar conjunctiva. The process begins near one corner of the eye, most commonly the inner canthus. The progressive head is typically fleshy and can infiltrate the cornea and block vision. Surgical excision is curative, although recurrence may occur after surgical removal (summary by {2:Hecht and Shoptaugh, 1990})." +178110,"Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1A (CPSFS1) is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported ({3:Carapito et al., 2016}; {10:Zieba et al., 2017}; {2:Cameron-Christie et al., 2018}).\n\nAn autosomal recessive form of CPSFS (CPSFS1B; {618469}) is caused by compound heterozygous mutation in the MYH3 gene." +178200,"Antecubital pterygium syndrome is an autosomal dominant disorder characterized by a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension, and missing skin creases over the terminal interphalangeal joints of the fingers (summary by {5:Wallis et al., 1988})." +178300,Hereditary congenital ptosis occurs in 3 main forms: simple; with external ophthalmoplegia; and with blepharophimosis.\n\nSee PTOS2 ({300245}) for description of an X-linked form of congenital bilateral isolated ptosis. +178330,"{1:McPherson et al. (1976)} described mother, son and 2 daughters with this combination." +178370,{1:DiChiara et al. (1980)} observed pulmonary atresia with ventricular septal defect in father and son. They could find no previous report of familial occurrence and favored a multifactorial basis. +178500,"Interstitial lung disease (ILD) comprises a heterogeneous group of rare diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The manifestations form a spectrum ranging from idiopathic interstitial pneumonia (IIP) or pneumonitis to the more severe idiopathic pulmonary fibrosis (IPF). IPF is associated with an increased risk of developing lung cancer, which occurs in a subset of patients with ILD. Clinical features of ILD include dyspnea, clubbing of the fingers, and restrictive lung capacity. Imaging typically shows ground glass opacities and inter- and intraseptal thickening, while histologic studies usually show a pattern consistent with 'usual interstitial pneumonia' (UIP) (review by {14:Gross and Hunninghake, 2001}; summary by {25:Legendre et al., 2020}).\n\nIdiopathic pulmonary fibrosis is one of a family of idiopathic pneumonias sharing clinical features of shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees in inflammation, fibrosis, or both on lung biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. Although older studies included several forms of interstitial pneumonia under the term 'idiopathic pulmonary fibrosis,' the clinical label of 'idiopathic pulmonary fibrosis' should be reserved for patients with a specific form of fibrosing interstitial pneumonia referred to as usual interstitial pneumonia ({14:Gross and Hunninghake, 2001}). It is estimated that 0.5 to 2.2% of cases of idiopathic pulmonary fibrosis are familial ({26:Marshall et al., 2000}). {14:Gross and Hunninghake (2001)} reviewed idiopathic pulmonary fibrosis, emphasizing definition, pathogenesis, diagnosis, natural history, and therapy. {4:Antoniou et al. (2004)} provided a 'top ten list' of references pertaining to etiopathogenesis, prognosis, diagnosis, therapy, and other aspects of idiopathic pulmonary fibrosis.\n\nFor a discussion of genetic heterogeneity of ILD, see ILD1 ({619611}).\n\nPulmonary fibrosis can also be a feature in patients with mutations in the TERT ({187270}) or the TERC ({602322}) gene; see PFBMFT1 ({614742}) and PFBMFT2 ({614743}).\n\nSome patients with surfactant protein C deficiency ({610913}) who survive to adulthood manifest features of pulmonary fibrosis." +178550,"This rare disorder is characterized by the triad of hemoptysis, iron-deficiency anemia, and transient pulmonary infiltrates by roentgenography. The underlying pathogenetic mechanism is a propensity to recurrent intrapulmonary hemorrhage. Even though large amounts of iron are laid down in the lung, with normal or increased total body iron, anemia occurs because of inability of the erythron to use iron sequestered in pulmonary macrophages. Pulmonary fibrosis leads to respiratory insufficiency in advanced cases. {2:Thaell et al. (1978)} described the disorder in mother and son and noted its occurrence in sisters.\n\n{1:Ohga et al. (1995)} found a total of 39 cases in Japan (12 males and 27 females). They make no mention of familial occurrence. The authors noted that the predominance of females suggested an autoimmune basis of the disease." +178600,"Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by {23:Machado et al., 2009} and {9:Han et al., 2013}).\n\nHeterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by {23:Machado et al., 2009} and {9:Han et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Primary Pulmonary Hypertension\n\nPPH2 ({615342}) is caused by mutation in the SMAD9 gene ({603295}) on chromosome 13q13; PPH3 ({615343}) is caused by mutation in the CAV1 gene ({601047}) on chromosome 7q31; PPH4 ({615344}) is caused by mutation in the KCNK3 gene ({603220}) on chromosome 2p23; and PPH5 ({265400}) is caused by mutation in the ATP13A3 gene ({610232}) on chromosome 3q29.\n\nPrimary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1; {187300}), caused by mutation in the ENG gene ({131195}), and HHT2 ({600376}), caused by mutation in the ACVRL1 (ALK1) gene ({601284}).\n\nPediatric-onset pulmonary hypertension may be seen in association with ischiocoxopodopatellar syndrome (ICPPS; {147891}). The skeletal manifestations of ICPPS are highly variable and may not be detected in children. Parents are not likely to have PAH ({17:Levy et al., 2016})." +178610,"{1:Franchi et al. (1992)} reported the cases of 3 members of a family with diffuse lung infiltrates, digital clubbing, and chronic hypoxia. Elevated immunoglobulin levels and antinuclear antibodies were found in all 3. Pathologic findings included hyperplastic lymphoid follicles infiltrating the epithelium of the small airways. The proband was a 25-month-old white boy in whom diffuse bilateral infiltrates had first been identified at the age of 11 months. The mother had chronic pulmonary infiltrates and mild exercise intolerance. A maternal uncle with chronic pulmonary infiltrates and systemic lupus erythematosus had died at the age of 14 years of acute pulmonary hemorrhage. The maternal grandparents were said to have rheumatoid arthritis and IgA nephropathy. The proband and his mother had digital clubbing. {1:Franchi et al. (1992)} suggested that these patients may have suffered from a familial systemic autoimmune disorder." +178650,"{1:Ciuffo et al. (1985)} reported a family in which the 62-year-old mother and her 36-year-old son and 28-year-old daughter had a seemingly 'new' syndrome of pulmonary valve stenosis, secundum type of atrial septal defect, and unique EKG changes: superior axis (-88 degrees in the mother) and absence of anterior forces in the precordial leads. The mother, the proband, had successful balloon pulmonary valvuloplasty at age 62 years. The son had corrective surgery for the ASD and PS at age 13 years. The daughter had surgical transpulmonary valvuloplasty at age 11 years. The presence of ASD was indicated by widely and fixedly split second heart sound." +178651,{2:Lewis et al. (1958)} and {1:Koroxenidis et al. (1966)} reported on a family in which a black woman and 4 of her 8 children from 2 marriages had pulmonary valvular and/or infundibular stenosis in association with other cardiac and noncardiac malformations. Two of the children had associated congenital deafness. One of the deaf children had the syndrome of idiopathic ventricular hypertrophy with muscular outflow tract obstruction ({192600}). +178800,{1:White and Fulton (1937)} described ovoid pupils that were large and reacted poorly to constricting stimuli in a woman of Russian-Jewish extraction and both of her identical twin daughters. +178900,Remnants of the pupillary membrane persist as strands and other irregular tissue in the region of the pupil. {1:Cassady and Light (1957)} described a family in which 11 persons in 4 generations showed remnants of the pupillary membrane. Four of these also had congenital cataract and 3 had increased corneal diameter. Possibly the Rieger syndrome (see {180500}) should be considered. +178995,"Pruritic urticarial papules and plaques of pregnancy, or polymorphic eruption of pregnancy, develops late in pregnancy. It usually appears first in abdominal striae before spreading to other areas. The eruption clears soon after delivery. {1:Weiss and Hull (1992)} reported 2 affected sisters in each of 2 families. In one family the sisters were identical twins married to identical twins. This was the first report of familial occurrence. Each of the 4 women was a primigravida. {1:Weiss and Hull (1992)} favored the possibility of a shared maternal reaction to a common paternal influence, possibly a paternal antigen expressed late in pregnancy or released into the maternal circulation with placental degeneration near term." +179000,"Purpura of the extremities, epistaxis, ecchymoses on slight trauma and menorrhagia are features. Tourniquet test is positive but all other tests of clotting are normal. In the family reported by {2:Fisher et al. (1954)}, purpura and ptosis occurred together with male-to-male transmission in at least 3 generations. Among Davis' 27 families, 9 had 2 or more generations affected. Women were more often affected and there was apparently no instance of male-to-male transmission." +179010,"Infantile pyloric stenosis is the most common condition requiring surgical intervention in the first year of life. It typically presents in infants 2 to 6 weeks after birth. Clinically the disorder is characterized by projectile vomiting, visible gastric peristalsis, and a palpable pyloric tumor (summary by {10:Everett et al., 2008}). Mortality was high until successful treatment by pyloromyotomy was developed by {18:Ramstedt (1912)}.\n\n<Subhead> Genetic Heterogeneity of Infantile Hypertrophic Pyloric Stenosis\n\nMultiple susceptibility loci have been implicated in IHPS including IHPS1 on chromosome 12q, IHPS2 ({610260}) on chromosome 16p13-p12, IHPS3 ({612017}) on chromosome 11q14-q22, IHPS4 ({300711}) on chromosome Xq23, and IHPS5 ({612525}) on chromosome 16q24." +179250,"{1:Schmitt et al. (1982)} described a family in which 5 females and 3 males over 3 generations had bilateral, symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. Affected males had first-degree hypospadias and all affected persons had anterior maxillary diastema. No male-to-male transmission was observed; however, transmission to only 2 of 4 daughters by an affected male favors autosomal (as opposed to X-linked) dominant inheritance." +179270,"This possibly 'new' syndrome described by {1:Goldblatt and Viljoen (1987)} was manifested in varying degrees in a father and 2 daughters. The father had a flattened nasal bridge, chronic blocked nose related to choanal stenosis, convergent squint, and hypoplastic left thumb with hypoplasia of the muscles of the forearm and left thenar eminence. The older daughter had flattened nasal bridge, left convergent strabismus, and hypoplastic left forearm and thumb, the latter being distally placed. The younger daughter had bilateral choanal atresia, markedly flattened nasal bridge, esotropia, absence of the left radius and left thumb, and small, distally implanted right thumb." +179300,"There are 2 types of radioulnar synostosis: in type 1, there is a proximal, smooth fusion of 2 to 6 cm between the radius and ulna and the radial head is absent; in type 2, there is a fusion just distal to the proximal radial epiphysis in association with congenital dislocation of the radial head ({1:Bauer and Jonsson, 1988}). Both types result in a limitation of pronation and supination of the forearm, and in type 2 there is also a restriction of extension at the elbow. Dominant inheritance through several lines in several generations was demonstrated by a family reported by {3:Davenport et al. (1924)}. {4:Hansen and Andersen (1970)} found a positive family history in 5 of 37 cases.\n\nRadioulnar synostosis is a feature of certain chromosome abnormalities, notably the triple X-Y syndrome (XXXY). See pronation-supination of the forearm, impairment of ({176800}).\n\nRadioulnar synostosis occurs in an autosomal dominant syndrome with amegakaryocytic thrombocytopenia; see RUSAT1, {605432}." +179400,"At least 18 cases have been reported ({1:Immeyer, 1967}). No information on its genetics is available." +179450,"{5:Levine et al. (1972)} found that clinical ragweed pollenosis (hay fever) and IgE antibody production specific for antigen E (the major purified protein antigen from ragweed pollen extract) correlated closely with HLA haplotypes in successive generations of 7 families. The correlation was thought to be based on the existence of an Ir locus closely linked to the HLA locus ({142800}). {1:Blumenthal et al. (1974)} extensively studied 3 generations of a kindred for skin sensitivity to antigen E of ragweed and for HLA type ({142800}). They concluded that a locus controlling sensitivity to antigen E (IrE) is linked to the HLA complex on chromosome 6 and that the order is: first locus (LA), second locus (FOUR), IrE. They designated the complex HL-1.\n\nRagweed sensitivity is a specific form of atopy ({147050}). Because of the distribution of the offending agent, it is a disorder primarily of the eastern United States. Studies by {2,4:Cookson et al. (1989, 1992)}, performed in England, concern other allergens since ragweed is not found in that country." +179500,"{2:Weary and Behlen (1965)} described a distinctive bilateral, symmetrical, sharply localized hypopigmentation of the upper chest in a black woman and her 4 children. A single spot of depigmentation, with a shape suggesting a raindrop, was present below the mid-clavicle on each side. Either X-linked or autosomal dominant inheritance was possible. {1:McKusick (1968)} noted multiple hypopigmented spots resembling raindrops over the upper chest and shins of a black woman whose father had the same." +179502,"The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity ({7:Riess et al., 1993})." +179600,"{3:Lewis and Pickering (1933)} described 2 British families with multiple persons suffering from intermittent attacks of numb and white fingers. One family had 9 cases in 2 generations, the second 14 cases in 3 generations. Males and females were equally affected and several instances of male-to-male transmission were noted. Using the {1:Allen and Brown (1932)} criteria, {2:Freedman and Mayes (1996)} examined the prevalence of primary Raynaud disease in the first-degree relatives of 23 newly identified patients. Spouses and their first-degree relatives were used as the control group. The prevalence of Raynaud disease was significantly higher in the families of the probands than in control families both by questionnaire (26% vs 6%) and by physical exam (11% vs 3%)." +179613,"Recombinant chromosome 8 syndrome (Rec8 syndrome) is a chromosomal disorder found among individuals of Hispanic descent with ancestry from the San Luis Valley of southern Colorado and northern New Mexico. Affected individuals typically have impaired intellectual development, congenital heart defects, seizures, a characteristic facial appearance with hypertelorism, thin upper lip, anteverted nares, wide face, and abnormal hair whorl, and other manifestations ({7:Sujansky et al., 1993}, summary by {3:Graw et al., 2000})." +179700,"In 8 members of a family from the Dominican Republic, {5:Jaffe and Gottfried (1968)} found a hemolytic disorder with mild hyperbilirubinemia and reticulocytosis of 6 to 15% but with little or no anemia, and was able to show an increase in lecithin. The pedigree suggested regular autosomal dominant inheritance. In a Polish-born Jewish family, {2:Danon et al. (1962)} described an electron microscopic abnormality of the red cell membrane which probably was responsible for susceptibility to hemolysis on exposure to drugs and possibly viruses. Two sisters had similar findings. Questionable anomaly was found in the proband's son. {6:Shohet et al. (1971)} showed that there is a defect in the catabolism of membrane phosphatides and referred to the condition as high phosphatidylcholine hemolytic anemia (HPCHA). The lipid defect of the red cell membrane is accompanied by excessive cation permeability and ouabain-sensitive pumping with excessive glycolytic energy diverted to the pump ({7:Shohet et al., 1973}). Reports were given by {9:Yawata et al. (1982)} among others in Japan. Plasma lipids are normal and other cell membranes are apparently normal. There are, for example, no neurologic manifestations. Two generations and by implication a third were affected in the family reported by {8:Yawata et al. (1984)}. A possibly identical family was reported by {3:Fey et al. (1986)} in a Bernese Swiss family in which persons over 3 and perhaps 5 generations had hemolytic anemia. Red cell morphology was not remarkable. Membrane lipid analysis showed an increased phosphatidylcholine:phosphatidylethanolamine ratio. The defect is presumed to involve the enzyme required for the transfer of membrane fatty acids from phosphatidylcholine (lecithin) to phosphatidylethanolamine ({4:Jaffe, 1987}).\n\n{1:Clark et al. (1993)} compared the characteristics of red cells from patients thought to have HPCHA with those of patients with hereditary xerocytosis ({194380}). Both types of cells have reduced intracellular potassium with attendant cell dehydration and an increase in the relative amount of membrane phosphatidylcholine. They could find no means of distinguishing between the 2 disorders and considered it likely that they represent 'a spectrum of disorders resulting from a variety of defects that produce the same general pattern of abnormalities in cation content and membrane phospholipid composition.'" +179830,"Proximal RTA is distinct from classic, or distal, RTA (see {179800}), which is characterized by an inability of the distal tubule to generate a sufficiently large hydrogen ion gradient between blood and tubular fluid. Thus, excretion of ammonium ions and titratable acid are reduced, and urinary pH is usually above 6.5 despite overt acidosis. In the proximal, or bicarbonate-wasting, type of RTA, excretion of acid in the distal tubule is normal, and the urine is normally acidic, with a pH down to 5 during acidosis. In this type of RTA, an inability to reabsorb bicarbonate in the proximal tubules causes hyperchloremic acidosis. Type II RTA is a feature of the Fanconi syndrome (see {134600}). As an isolated defect, it is a transitory condition in male infants, with growth retardation as the main clinical feature ({3:Nash et al., 1972}). Also see proximal renal tubular acidosis with ocular abnormalities and mental retardation ({604278}).\n\n{1:Brenes et al. (1977)} studied a family in which 9 members had hyperchloremic acidosis with normal plasma creatinine and good ability to acidify urine. Renal functions, other than bicarbonate wasting, were normal. The acidosis persisted into adult life. All affected persons were asymptomatic but showed diminished stature. No hypercalciuria, rickets or osteomalacia was found. The authors suggested autosomal dominant inheritance. However, because of no male-to-male transmission, failure of expression in at least 3 persons who by the dominant hypothesis must have had the affected genotype, and the possibility (not excluded by the report) of consanguinity leading to a pseudodominant pedigree pattern, the mode of inheritance cannot be considered certain.\n\n{2:Fry and Karet (2007)} reviewed the clinical features and molecular genetics of the inherited renal acidoses." +179840,"Reticular dystrophy is a disorder of protean manifestations occurring in the retinal pigment epithelium (RPE) with little or no involvement of the neurosensory retina. The disorder may be detected at an early age and may be slowly progressive, but the prognosis for visual acuity is good. Abnormalities of dark adaptation and nyctalopia may develop with time. Electrophysiologic testing may show a normal electroretinogram (ERG), subnormal electrooculogram (EOG), and subnormal results of dark adaptation studies (summary by {2:Kingham et al., 1978})." +179850,"Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by {13:Li et al., 2013}).\n\n<Subhead> Review of Reticulate Pigment Disorders\n\n{16:Muller et al. (2012)} reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK; {615537}), reticulate acropigmentation of Dohi (RAD; {127400}), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. {16:Muller et al. (2012)} also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). {16:Muller et al. (2012)} concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity.\n\n<Subhead> Genetic Heterogeneity of Reticulate Pigment Disorders\n\nDowling-Degos disease-2 (DDD2; {615327}) is caused by mutation in the POFUT1 gene ({607491}) on chromosome 20q11. Dowling-Degos disease-3 (DDD3; {615674}) has been mapped to chromosome 17p33.3. Dowling-Degos disease-4 (DDD4; {615696}) is caused by mutation in the POGLUT1 gene ({615618}) on chromosome 3q13. Dyschromatosis symmetrica hereditaria (DSH; {127400}), also known as reticulate acropigmentation of Dohi (RAD), is caused by mutation in the ADAR gene ({146920}) on chromosome 1q21. Reticulate acropigmentation of Kitamura (RAK; {615537}) is caused by mutation in the ADAM10 gene ({602192}) on chromosome 15q21." +179900,"{2:Sorsby and Williams (1960)} observed a family with multiple cases of retinal aplasia in which inheritance was autosomal dominant. 'Retinal aplasia' is the British term for what is called 'congenital amaurosis' on the continent. Much genetic heterogeneity exists as evidenced by the demonstration of both autosomal dominant and autosomal recessive forms. This disorder, which might be called an autosomal dominant form of Leber amaurosis congenita, must be very rare. {1:Heckenlively (1988)} reported a 6-generation family with a severe progressive retinal degeneration beginning in infancy." +180000,"Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma (summary by {5:Nischler et al., 2011})." +180020,"{5:Krill et al. (1973)} defined an autosomal dominant form of diffuse cone degeneration. The findings of electroretinogram were distinctive. Progressive loss of visual acuity, photophobia, and defective color vision are the major complaints. Unlike retinitis pigmentosa ({180100}), loss of side vision and night blindness are rare complaints. The most common macular lesion has a bull's eye appearance produced by a central area of uninvolved epithelium. {5:Krill et al. (1973)} published pedigrees of extensively affected families. The patients may be mislabelled as total colorblindness. {1:Berson et al. (1968)}, {2:Davis and Hollenhorst (1955)}, {6:Sloan and Brown (1962)}, and others have reported families. {8:Warburg (1989)} reasoned that patients with mental retardation and retinal cone dystrophy might have visible chromosomal abnormalities. From the study of such patients and correlations with patients previously reported, {8:Warburg (1989)} concluded that a gene that causes retinal cone dystrophy is located in the region 6q25-q26. {7:Tranebjaerg et al. (1986)} described the case of a 6-year-old boy with cone dystrophy, mental retardation, facial dysmorphism, and short neck, hands and feet in whom a t(1;6)(q44;q27) was identified. This was said to be the first description of retinal cone dystrophy with a chromosomal aberration.\n\n{9:Went et al. (1992)} described an autosomal dominant cone dystrophy spanning 7 generations in a Dutch family. The onset of decline of visual acuity was after age 20; a nearly complete absence of blue-cone function developed before any abnormalities in visual acuity were detected by funduscopy, ERG, visual fields or fluorescein angiography.\n\nIn 10 patients with cone dystrophy, {3:Holopigian et al. (2004)} evaluated rod and cone photoreceptor function. Five of the patients were from a family with autosomal dominant cone dystrophy; the other 5 patients had no family history of cone dystrophy and were not related. Full-field ERG revealed that most of the patients had abnormal cone photoreceptor function. Some patients also showed rod photoreceptor abnormalities. The rod system changes were smaller than the cone system changes.\n\n{4:Kondo et al. (2004)} described a form of cone dystrophy which the peripheral cone system was more affected than the central cone system, and whose rod system was relatively normal ({609021})." +180050,"Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by {1:McNiel and McPherson, 1971})." +180080,"{1:Meredith (1987)} described a family in which 2 sisters and a brother, their mother and a maternal uncle had prominent retinal venous segmental beading. Some of them showed areas of focal retinal infarction, surface retinal neovascularization, vitreous hemorrhage, microaneurysm formation, altered vascular permeability with lipid exudation, and focal edema. There were abnormalities of distribution of arterioles and venules. Saccular aneurysmal changes were present in conjunctival vessels. The father of the mother as well as the mother's brother had chronic hereditary nephritis and hearing loss (?Alport syndrome; {104200}). Neutropenia, presumably benign, was demonstrated in 2 of the affected sibs in the third generation. It is possible that {1:Meredith (1987)} was describing ocular changes of Alport syndrome." +180104,"Autosomal dominant retinitis pigmentosa (ADRP) is characterized by a typical fundus appearance, narrowed retinal vessels, and changes in the electrophysiological responses of the eye. Early signs are night blindness and constriction of the visual fields with a variable ages of onset (summary by {4:Jay et al., 1992})." +180105,"Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses ({5:Jordan et al., 1993}; {1:Bowne et al., 2002}; {2:Bowne et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +180200,"Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F ({189971}) and repress transcription of genes required for S phase ({89:Hanahan and Weinberg, 2000})." +180210,"{1:Grondahl (1987)} diagnosed autosomal dominant pericentral retinal dystrophy in 4 families from northern Norway. Three of these families had a pigmentary retinal degeneration of night blindness starting in the teens and leading to blindness in the sixth and seventh decades of life, after the development of bony spicules, attenuation of retinal blood vessels, and retinal atrophy. Thus, the changes were quite different from those in the sibs reported by {2:Traboulsi et al. (1988)}; see {268060}." +180270,"{1:Yassur et al. (1982)} described retinoschisis in 8 members of 6 sibships in 3 generations, including 3 instances of male-to-male transmission. By implication, on the assumption of autosomal dominant inheritance, 2 others, including a fourth generation, were affected. Severity varied widely, but all affected persons had peripheral retinoschisis and peripheral retinal degeneration. Maculoschisis was demonstrated in 3, and macular pigmentary changes in 5. Electroretinogram yielded normal results in 6 of the 8." +180300,"Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component." +180360,{2:Mindikoglu et al. (1991)} observed father and son with characteristic abnormality of the midface. The nose was extremely short and upturned with small nares facing directly anteriorly. The philtrum was long and thin. The lips were narrow and downturned at their outer margins. No other abnormalities were observed except for an inguinal hernia in the son. {1:Mindikoglu et al. (1990)} suggested the term craniorhiny for the syndrome that combines craniosynostosis with unusual nasal abnormalities ({123050}) and rhiny for this condition. +180500,"Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals ({12:Fitch and Kaback, 1978}). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia ({1:Alkemade, 1969}).\n\n<Subhead> Genetic Heterogeneity of Axenfeld-Rieger Syndrome\n\nLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2; {601499}). A third form of Axenfeld-Rieger syndrome (RIEG3; {602482}) is caused by mutation in the FOXC1 gene ({601090}) on chromosome 6p25.\n\nSee {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities." +180550,"Ring dermoid of cornea (RDC) is an autosomal dominant condition characterized by bilateral annular limbal dermoids with corneal and conjunctival extension (summary by {2:Xia et al., 2004})." +180600,"Pili annulati, or 'ringed hair,' is a disorder in which scalp hairs show alternating light and dark bands. It is often an incidental finding, and the hair usually does not show increased fragility ({3:Green et al., 2004}).\n\nSee also pseudopili annulati ({613241}), a distinct entity." +180700,"Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by {21:Roifman et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Robinow syndrome, see RRS ({268310})." +180800,"Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life ({1:Auer-Grumbach et al., 1998}; {3:Plante-Bordeneuve et al., 1999})." +180849,"Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation ({57:Rubinstein and Taybi, 1963}; review by {33:Hennekam, 2006}).\n\nFloating-Harbor syndrome ({136140}), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene ({611421}), a coactivator for CREBBP.\n\n<Subhead> Genetic Heterogeneity of Rubinstein-Taybi Syndrome\n\nRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2; {613684}) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene ({602700}) on chromosome 22q13 ({3:Bartsch et al., 2010}).\n\nSee also chromosome 16p13.3 deletion syndrome ({610543}), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes." +180860,"Silver-Russell syndrome-1 (SRS1) is a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. Hypomethylation at distal chromosome 11p15 (ICR1) represents a major cause of the disorder. Opposite epimutations, namely hypermethylation at the same region on 11p15, are observed in about 5 to 10% of patients with Beckwith-Wiedemann syndrome (BWS; {130650}), an overgrowth syndrome ({9:Bartholdi et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Silver-Russell Syndrome\n\nSRS2 ({618905}) is caused by maternal uniparental disomy of chromosome 7. SRS3 ({616489}) is caused by mutation in the IGF2 gene ({147470}) on chromosome 11p15. SRS4 ({618907}) is caused by mutation in the PLAG1 gene ({603026}) on chromosome 8q12. SRS5 ({618908}) is caused by mutation in the HMGA2 gene ({600698}) on chromosome 12q14." +180920,"Autosomal dominant aplasia of lacrimal and salivary glands is a rare condition characterized by irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta. In affected individuals, the misdiagnosis is often made of the more prevalent disorder Sjogren syndrome ({270150}), an autoimmune condition characterized by keratoconjunctivitis sicca and xerostomia. Both sporadic and familial cases of ALSG have been described (summary by {4:Entesarian et al., 2005})." +180950,"Discovery of inherited blood group substances in the saliva has usually followed discovery of the antigen on red cells. This is primarily because the antibody for the red cell antigen is first discovered and investigated. Thereafter, when saliva is studied in hemagglutination-inhibition tests with the antibody, antigen might be identified. Such was the case in ABO ({616093}), Lewis ({618983}) and Sd ({111750}). {1:Balding and Gold (1973)} described a 'new' substance secreted in the saliva and recognized by using, not an antibody but a 'receptor specific protein', a hemagglutinin from Clostridium botulinum, type C. They called the trait Sal (CbC), and found reason to think that in Caucasians the frequency of the dominant allele is about 0.73. This may represent a hereditary saliva group that has no 'blood group' counterpart. Others may well exist." +181010,{1:Bullock (1982)} reported chronic calculous parotitis beginning at age 12 months in a baby girl. The mother had a history of parotid calculi and the maternal grandmother had submandibular calculi. +181180,"{5:Say et al. (1975)} described a 'new,' presumably autosomal dominant disorder characterized by cleft palate, short stature, microcephaly, large ears, and hand anomalies. A grandfather, 2 of his 5 daughters, and the son of 1 of the affected daughters were affected. The 2 affected females in the second generation had distally tapering fingers with hypoplastic distal phalanges, ulnar deviation of the middle fingers, and low set thumbs. Both had bilateral acromial dimples. The mother had severe micrognathia, which was surgically corrected during early childhood, and cleft palate. {1:Abu-Libdeh et al. (1993)} reported the case of a 13-month-old girl with similar features. Proximal renal tubular acidosis with cystic dysplasia of the kidneys was also present. Cystic renal dysplasia was also present in a new case in one of the discordant monozygotic twins reported by {2:Ashton-Prolla and Felix (1997)}.\n\n{3:Guion-Almeida et al. (1998)} reported a 3-year 7-month-old Brazilian boy with this syndrome whose parents were normal and nonconsanguineous. The child had glossoptosis, seizures, and cerebral anomalies, features which were not observed in previous reports.\n\n{4:Pagnan et al. (1999)} reported a 12-month-old boy with cleft palate, large ears, microcephaly, distally tapering fingers, length at the 3rd centile, and delayed bone age. Psychomotor development was normal, and no renal anomalies were identified on ultrasonography. The patient's mother had microcephaly, but no other abnormal features. The authors concluded that this patient had Say syndrome and interpreted the microcephaly in the patient's mother as mild expression of the syndrome." +181200,"SC(1) is a component of saliva demonstrated immunoelectrophoretically. The precise mechanism of genetic control has not been determined although the importance of genetic factors has been demonstrated ({1:Niswander et al., 1964}) by family data and twin studies. Environmental influences seem rather strong. The component is lacking from serum." +181250,"{3:Fryns and Van den Berghe (1979)} observed a kindred in which several persons had scalp defects and postaxial polydactyly type A. They raised the question of this being a single gene trait. One person had both, 4 had scalp defects only, and 3 had postaxial polydactyly only. {1:Buttiens et al. (1985)} reported a sporadic case." +181270,"Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families ({6:Marneros et al., 2013})." +181300,"{4:Graves (1921)} found that about 54% of persons have a convex vertebral border, about 26% have a straight vertebral border, and about 20% have a concave border." +181350,"EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1; {310300}) is an X-linked disorder caused by mutation in the emerin gene (EMD; {300384}) on Xq28 ({7:Emery, 1989}).\n\nFor a discussion of genetic heterogeneity of EDMD, see {310300}." +181440,"Scheuermann disease is characterized by lumbar or thoracic kyphosis or both, back pain, and a variety of vertebral changes including wedging, endplate irregularity, narrowing of disc spaces, Schmorl nodes, and detached epiphyseal rings. It is reported to occur more frequently in boys than in girls (summary by {6:McKenzie and Sillence, 1992})." +181450,"The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies ({3:Bamshad et al., 1996})." +181500,"Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease ({104300}). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.\n\nSchizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder ({13:Blacker and Tsuang, 1992}).\n\n<Subhead> Genetic Heterogeneity of Schizophrenia with or without an Affective Disorder\n\nSCZD4 ({600850}) is associated with variation in the PRODH gene ({606810}); SCZD9 ({604906}) with variation in the DISC1 gene ({605210}); SCZD15 ({613950}) with variation in the SHANK3 gene ({606230}); SCZD16 ({613959}) with a chromosome duplication involving the VIPR2 gene ({601970}); SCZD17 (see {614332}) with variation in the NRXN1 gene ({600565}); SCZD18 ({615232}) with variation in the SLC1A1 gene ({133550}); and SCZD19 ({617629}) with variation in the RBM12 gene ({607179}).\n\nFor associations pending confirmation, see MAPPING and MOLECULAR GENETICS." +181600,"Huriez syndrome (HRZ) is characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nail changes. The development of aggressive squamous cell carcinoma (SCC) in areas of affected skin is a distinctive feature of the syndrome, occurring in approximately 15% of patients. HRZ-associated SCC shows early onset, mostly in the third to fourth decades of life, and early metastasis formation (summary by {10:Lee et al., 2000}).\n\nSee also {610644} for description of a disorder resembling Huriez syndrome, involving palmoplantar hyperkeratosis and squamous cell carcinoma in association with SRY ({480000})-negative female-to-male XX sex reversal, caused by mutation in the RSPO1 gene ({609595})." +181700,"Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized (summary by {1:Elliott et al., 1985})." +181750,"Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors ({4:Fonseca et al., 2007}).\n\n{8:Gabrielli et al. (2009)} provided a detailed review of scleroderma, including clinical manifestations and pathophysiology.\n\nSee also Reynolds syndrome ({613471}), which shares some clinical features with scleroderma and CREST syndrome." +181800,"Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method ({16:Weinstein, 1994}).\n\nScoliosis may occur secondary to other hereditary disorders including Marfan syndrome ({154700}), dysautonomia ({223900}), neurofibromatosis (see {162200}), Friedreich ataxia (see {229300}), and muscular dystrophies.\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Isolated Scoliosis\n\nLoci for isolated scoliosis have been mapped to chromosome 19 (IS1), chromosome 17 (IS2; {607354}), chromosome 8 (IS3; {608765}), chromosome 9q31-q34 (IS4; {612238}), and chromosome 17q25-qter (IS5; {612239})." +182000,Seborrheic keratoses are common benign epidermal lesion that can develop on any part of the body. +182100,"The classic human secretor locus (Se) FUT2 encodes alpha-(1,2)fucosyltransferase, which regulates expression of the Lewis ABO(H) histo-blood group antigens on the surface of epithelial cells and in body fluids and determines the secretion status of the ABO antigens (see {616093}). Secretor status of this polymorphic protein was used by {19:Mohr (1951)} to provide the first autosomal linkage in humans between secretor factor and the Lutheran blood group (see {111200}) (summary by {8:Hazra et al., 2008}).\n\nThe secretor factor (Se) might be considered either a physiologic trait or an honorary blood group. The individual who is a so-called secretor has demonstrable ABH blood group antigen in the saliva and other body fluids; the nonsecretor does not. Secretor is dominant." +182170,"Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if present, may be microcytic or macrocytic. Sometimes a dimorphic picture is observed in which 2 populations of erythrocytes can be detected in peripheral blood smears. The presence of ringed sideroblasts (erythroblasts containing pathologic mitochondrial iron deposits) in bone marrow is pathognomonic for sideroblastic anemia ({3:van Waveren Hogervorst et al., 1987}; {2:Schmitz-Abe et al., 2015}).\n\nFor a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 ({300751})." +182190,"See {163800} for a discussion of disturbance of the sinoatrial node, including the so-called sick sinus syndrome (SSS). {1:Onat (1986)} described SSS in father, daughter and son. The 2 elder affected persons had severe degenerative myopia. It was suggested that the youngest affected person, still under age 7 years, might develop this feature." +182200,{1:Carey et al. (1968)} observed osseous bridging between the anterior and posterior clinoids in a mother and 3 children. +182212,"Shprintzen-Goldberg syndrome is a disorder comprising craniosynostosis, a marfanoid habitus, and skeletal, neurologic, cardiovascular, and connective tissue anomalies. There appears to be a characteristic facies involving hypertelorism, downslanting palpebral fissures, high-arched palate, micrognathia, and low-set posteriorly rotated ears. Other commonly reported manifestations include hypotonia, developmental delay, and inguinal or umbilical hernia; the most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility (summary by {11:Robinson et al., 2005}).\n\nThere is considerable phenotypic overlap between SGS and Marfan syndrome (MFS; {154700}) and Loeys-Dietz syndrome (LDS; see {609192}): SGS includes virtually all of the craniofacial, skeletal, skin, and cardiovascular manifestations of MFS and LDS, with the additional findings of mental retardation and severe skeletal muscle hypotonia (summary by {4:Doyle et al., 2012})." +182220,"{1:Cohen et al. (1982)} studied the frequency of spontaneous sister chromatid exchange PHA-stimulated peripheral leukocytes in 2-generation families. No significant variation was found among replicate cultures established from the same blood sample or among samples from individuals at different times. However, family factors were indicated by the significant differences between families, although not within families." +182230,"Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum ({8:Dattani et al., 1998}). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by {24:Webb and Dattani, 2010}).\n\nAlso see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance." +182250,"Singleton-Merten syndrome (SGMRT) is an uncommon autosomal dominant disorder characterized by abnormalities of blood vessels, teeth, and bone. Calcifications of the aorta and aortic and mitral valves occur in childhood or puberty and can lead to early death. Dental findings include delayed primary tooth exfoliation and permanent tooth eruption, truncated tooth root formation, early-onset periodontal disease, and severe root and alveolar bone resorption associated with dysregulated mineralization, leading to tooth loss. Osseous features consist of osteoporosis, either generalized or limited to distal extremities, distal limb osteolysis, widened medullary cavities, and easy tearing of tendons from bone. Less common features are mild facial dysmorphism (high anterior hair line, broad forehead, smooth philtrum, thin upper vermilion border), generalized muscle weakness, psoriasis, early-onset glaucoma, and recurrent infections. The disorder manifests with variable inter- and intrafamilial phenotypes (summary by {5:Rutsch et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Singleton-Merten Syndrome\n\nAn atypical form of Singleton-Merten syndrome (SGMRT2; {616298}) is caused by mutation in the DDX58 gene ({609631}) on chromosome 9p21." +182255,"{1:Krassikoff et al. (1989)} described an apparently new skeletal dysplasia manifested by short stature, delayed epiphyseal and carpal bone ossification, marked shortening of the first metacarpals, bilateral fifth digit clinodactyly, abnormally short and broad middle phalanges, and cone-shaped epiphyses. Affected mother and 2 daughters were mentioned." +182269,"Proteins of the SPRR family are components of the cornified cell envelope, which provides the protective barrier function of stratified squamous epithelial cells. However, SPRR2C contains a premature stop codon and appears to be a pseudogene ({2:Gibbs et al., 1993}; {1:Cabral et al., 2001})." +182280,"Small cell cancer of the lung accounts for about a fourth of the 110,000 new cases of lung cancer that occur annually in the United States. It is clinically distinctive: usually metastases are already present at the time of discovery so that surgery is not used. In contrast to adeno- and squamous carcinoma, SCCL is sensitive to chemotherapy and radiotherapy. {30:Whang-Peng et al. (1982)} found a specific, acquired chromosomal abnormality (deletion 3p) in at least one chromosome 3 in all metaphases in all 12 cell lines cultured from human SCCL tissue in 2-day tumor culture specimens from 3 patients. The shortest region of overlap showed the deletion to involve 3p23-p14. No other type of lung cancer showed this deletion, nor did lymphoblastoid lines cultured from SCCL patients whose tumors had the 3p deletion. SCCL is 'caused' by cigarette smoking as are other types of lung cancer. Thus, like chronic myeloid leukemia, this is an example of an exogenously induced malignancy with a specific chromosomal change. Cytogenetic effects of cigarette smoke are relevant in this connection ({19:Madle et al., 1981}).\n\nSeveral biochemical markers were found to be associated with small cell cancer of the lung ({10:Gazdar et al., 1981}; {28:Tapia et al., 1981}). Perhaps genes in the 3p14-23 region have something to do with these markers as well as with the genesis of SCCL. (The cell of origin of SCCL is thought to be the Kulchitsky cell, an argentaffine cell situated in the bronchial epithelium, although this is not proved.) {8:Erisman et al. (1982)} showed that SCCL contains bombesin, a tetradecapeptide from anuran skin. It had been identified in human fetal and neonatal lung but not in adult lung. Some symptoms of SCCL may be attributable to bombesin. The syndrome of inappropriate secretion of antidiuretic hormone and Cushing syndrome, occurring with SCCL, are due to ectopic production of antidiuretic hormone and ACTH, respectively. The relation between ectopic hormone production and the aberration involving chromosome 3 is unknown. {1:Baylin et al. (1982)} found 12 distinguishing surface proteins on SCCL that were not shared by any of the 3 other carcinogen-induced forms of lung cancer (squamous, adeno-, and large cell undifferentiated carcinoma) or by human lymphoblastoid cells and fibroblasts. The neuroendocrine nature of SCCL was supported by the fact that 6 of the 12 were shared by human neuroblastoma cells. On human SCCL cells and tumors, {26:Ruff and Pert (1984)} demonstrated 4 surface antigens previously recognized only in macrophages. They suggested that cancerous cells may arise from macrophage precursors in bone marrow, and these precursors migrate to lung to participate in the repair of tissue damage produced by continuous heavy smoking. About 5% of SCCL patients have no apparent pulmonary involvement and the early, rapid and widespread dissemination of tumor to extrathoracic sites requires explanation. {23:Naylor et al. (1984)} used an anonymous, polymorphic DNA probe, D3S3, to confirm the presence of deletion of 3p in SCCL. This probe had been assigned to 3p21-cen. Studying 7 SCCL tumors and normal tissue from the same persons, they found that 6 of the 'normal' DNA samples were heterozygous for the D3S3 MspI polymorphism, whereas in all cases the tumor tissues were homozygous. {6:De Leij et al. (1985)} isolated 3 new, well-growing cell lines from SCCL. Deletions in 3p, with 3p23-p21 as the smallest region of overlap, were found. {20:Mooibroek et al. (1987)} used a recombinant DNA fragment detecting a RFLP presumably at 3p21 to probe DNA isolated from leukocytes of 12 patients with small cell lung cancer. Four of these patients were heterozygous. Analysis of tumor material from the 4 patients showed homozygosity for either one or the other restriction fragment in every case. {12:Gerber and Scoggin (1987)} and {21:Naylor et al. (1987)} demonstrated loss of constitutional heterozygosity in SCCL. Comparing tumor and constitutional genotypes of 9 patients with small cell lung cancer, {21:Naylor et al. (1987)} found a loss of alleles of chromosome 3p markers in tumor DNA of all 9 patients. {3:Brauch et al. (1987)} concluded that loss of alleles on 3p is a consistent change in small cell lung cancer but occasionally occurs in non-small cell lung cancer as well. Using a molecular genetic approach, {17:Kok et al. (1987)} found evidence for a consistent deletion at the 3p21 region not only in SCCL but in all major types of lung cancer. {32:Yokota et al. (1987)} found loss of heterozygosity for RFLPs on chromosome 3p in 7 of 7 patients, on 13q in 10 of 11 patients, and on 17p in 5 of 5 patients. Deletions at these loci in small cell carcinomas were observed even in tumors without any clinical evidence of metastasis. Furthermore, loss of heterozygosity on 3p and 13q occurred before NMYC amplification and before chromosome 11p deletion. (Loss of heterozygosity on 3p was also detected in the adenocarcinomas from 5 of 6 patients. Heterozygosity of chromosomes 13q and 17p was lost in 10 of 31 patients and in 3 of 12 patients, respectively, of lung cancers other than small cell carcinomas.) {15:Johnson et al. (1988)} found unequivocal loss of heterozygosity in the DNA from tumor tissue of 23 of 25 patients who were constitutionally heterozygous for at least 1 marker in the region 3p14-p21.\n\n{2:Birrer and Minna (1988)} pointed to at least 3 molecular mechanisms involved in the development of lung cancer: deletion of 3p, deregulated expression of the MYC family of genes, and growth factors such as gastrin-releasing hormone ({137260}). {7:Drabkin et al. (1988)} demonstrated that the SCLC 'locus' is proximal to ERBA2 ({190160}) and also to the constitutive 3p14.2 fragile site. Using 15 chromosome 3 probes that identified 19 different RFLPs, {5:Daly et al. (1991)} identified a single 3p deletion extending proximal to the D3S2 locus at 3p21-p14.2 and including at least 3p14-p13. The locus D3F15S2 was excluded from the deleted region, an uncharacteristic feature of SCLC deletions. Moreover, D3S30 and D3S4 were included within this deletion, and thus map within the proximal half of chromosome 3p. {18:Leduc et al. (1989)} found that virtually all cases of SCLC had lost heterozygosity at the ERBA2 locus. A smaller but substantial portion of non-small cell carcinomas of the lung had lost heterozygosity at this locus. Among all of the non-small cell tumors, some had lost heterozygosity at a proximal locus but not at ERBA2, whereas none were found where the reverse was true. Thus, the locus that plays a role in non-small cell tumorigenesis probably lies proximal to ERBA2 and is almost certainly not the ERBA2 gene. {27:Sellers et al. (1989)} presented epidemiologic data supporting the role of mendelian factors in the susceptibility to human lung cancer. The specific pathology of the tumors studied was not stated in the report.\n\nFrom studies of allele loss by use of 13 RFLP probes on 3p, {14:Hibi et al. (1992)} concluded that 3 distinct regions on 3p are frequently deleted in lung cancer: 3p25, 3p21.3, and 3p14-cen.\n\n{16:Killary et al. (1992)} described a rapid genetic assay system that allowed functional analysis of defined areas of 3p in the suppression of tumorigenicity in vivo. Human/mouse microcell hybrids containing fragments of chromosome 3p were constructed and screened for tumorigenicity in athymic nude mice. Hybrid clones were obtained that showed a dramatic tumor suppression and contained a 2-megabase fragment of human chromosomal material encompassing the region 3p21 near the interface with 3p22. This should be the first step toward isolating the tumor suppressor gene.\n\n{4:Chen et al. (1996)} analyzed microsatellite repeat markers in plasma, tumor samples, and normal cells from 21 patients with a confirmed diagnosis of small cell lung carcinoma (SCLC). They reported that microsatellite alteration (including loss of heterozygosity or the appearance of new size forms) occurred in 16 out of 21 SCLC tumors and in 15 out of 21 plasma samples. In 52% of cases the marker UT762 on chromosome 21 was altered, and in 38% of cases the marker AR ({313700}) on the X chromosome was altered. {4:Chen et al. (1996)} concluded that analysis of plasma DNA may constitute a new tool for tumor staging, management, or possibly detection. See also {275355}.\n\n{29:Watkins et al. (2003)} investigated a role for the Sonic hedgehog (SHH; {600725}) pathway in regeneration and carcinogenesis of airway epithelium. They demonstrated extensive activation of the hedgehog pathway within the airway epithelium during repair of acute airway injury. This mode of hedgehog signaling is characterized by the elaboration and reception of the SHH signal within the epithelial compartment, and immediately precedes neuroendocrine differentiation. A similar pattern of hedgehog signaling in airway development during normal differentiation of pulmonary neuroendocrine precursor cells, and in a subset of small cell lung cancer, was also observed. Small cell lung cancer tumors maintain their malignant phenotype in vitro and in vivo through ligand-dependent hedgehog pathway activation. {29:Watkins et al. (2003)} proposed that some types of small cell lung cancer might recapitulate a critical hedgehog-regulated event in airway epithelial differentiation. This requirement for hedgehog pathway activation identified a common lethal malignancy that may respond to pharmacologic blockade of the hedgehog signaling pathway.\n\nBy sequencing 29 SCLC exomes, 2 genomes, and 15 transcriptomes, {24:Peifer et al. (2012)} found that compared to other tumor types in global sequencing studies, SCLC exhibits an extremely high mutation rate of 7.4 protein-changing mutations per million basepairs. Integrated analyses of various data sets to identify pathogenetically relevant mutated genes found evidence in all cases for inactivation of TP53 ({191170}) and RB1 ({614041}) and identified recurrent mutations in the CREBBP ({600140}), EP300 ({602700}), and MLL ({159555}) genes, which encode histone modifiers. {24:Peifer et al. (2012)} also observed mutations in PTEN ({601728}), SLIT2 ({603746}), and EPHA7 ({602190}), as well as focal amplification of the FGFR1 ({136350}) tyrosine kinase gene. Finally, {24:Peifer et al. (2012)} detected many of the alterations found in human SCLC tumors in Tp53 and Rb1 double-knockout mice.\n\nIn a study using exome, transcriptome, and copy-number alteration data from 36 primary human SCLC-normal tissue pairs, 17 matched SCLC and lymphoblastoid cell lines, 4 primary tumors, and 23 SCLC cell lines, {25:Rudin et al. (2012)} identified 22 significantly mutated genes in SCLC, including genes encoding kinases, G protein-coupled receptors, and chromatin-modifying proteins. {25:Rudin et al. (2012)} found that several members of the SOX family of genes were mutated in SCLC. They also found SOX2 ({184429}) amplification in approximately 27% of the samples. Suppression of SOX2 using shRNAs blocked proliferation of SOX2-amplified SCLC lines. RNA sequencing identified multiple fusion transcripts and a recurrent RLF ({180610})-MYCL1 ({164850}) fusion. Silencing of MYCL1 in SCLC cell lines that had the RLF-MYCL1 fusion decreased cell proliferation.\n\n{11:George et al. (2015)} sequenced the genomes of 110 SCLCs and identified biallelic inactivation of TP53 and RB1 ({614014}), sometimes by complex genomic rearrangements, in nearly all tumors. Two tumors with wildtype RB1 had evidence of chromothripsis leading to overexpression of cyclin D1 (CCND1; {168461}), revealing an alternative mechanism of RB1 deregulation. {11:George et al. (2015)} concluded that loss of the tumor suppressors TP53 and RB1 is obligatory in SCLC. The authors also discovered somatic genomic rearrangements of TP73 ({601990}) that create an oncogenic version of this gene that lacks exons 2 and 3 (TP53-delta-ex2/3). In rare cases, SCLC tumors exhibited kinase gene mutations, providing a possible therapeutic opportunity for individual patients. Finally, {11:George et al. (2015)} observed inactivating mutations in NOTCH family genes in 25% of human SCLCs. Accordingly, activation of Notch signaling in a preclinical SCLC mouse model strikingly reduced the number of tumors and extended the survival of the mutant mice. Furthermore, neuroendocrine gene expression was abrogated by Notch activity in SCLC cells." +182400,"{1:Sara et al. (1981)} developed a radioreceptor assay utilizing human fetal brain plasma membrane as matrix and somatomedin A as receptor. The concentration of the somatomedin thus assayed was about 4-fold higher in fetal blood than in adult blood. At birth, values fell in the adult range. Hitherto, 2 somatomedins (multitargetal growth-promoting polypeptides) had been purified from adult human plasma: somatomedin A (IGF2; {147470}) and somatomedin C (IGF1; {147440})" +182410,"Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by {2:Bras et al., 2014}).\n\nLivedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents ({3:Bruyn et al., 1987})." +182600,"The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of {13:Fink et al. (1996)} and {14:Fink (1997)}.\n\nSPG is classified according to both the mode of inheritance (autosomal dominant, autosomal recessive (see {270800}), and X-linked (see {303350})) and whether progressive spasticity occurs in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness. The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). Spinocerebellar fibers are involved to a lesser extent. Since the description of 'pure' hereditary spastic paraparesis of late onset by {43:Strumpell (1904)}, many 'complicated' forms of the disorder have been reported and the question as to whether a 'pure' form exists has been raised off and on. Probably in large part because of their exceptional length, the pyramidal tracts are unusually vulnerable to both acquired and genetic derangement. Although a majority of reported families have displayed recessive inheritance, 10 to 30% of families have a dominant pattern and in fact recessive inheritance of a 'pure' spastic paraplegia may be rare.\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Spastic Paraplegia\n\nIn addition to SPG3A, other forms of autosomal dominant spastic paraplegia for which the molecular basis is known include SPG4 ({182601}), caused by mutation in the SPAST gene ({604277}) on 2p22; SPG6 ({600363}), caused by mutation in the NIPA1 gene ({608145}) on 15q11; SPG8 ({603563}), caused by mutation in the WASHC5 gene ({610657}) on 8q24; SPG9A ({601162}), caused by mutation in the ALDH18A1 gene ({138250}) on 10q24; SPG10 ({604187}), caused by mutation in the KIF5A gene ({602821}) on 12q13; SPG12 ({604805}), caused by mutation in the RTN2 gene ({603183}) on 19q13; SPG13 ({605280}), caused by mutation in the SSPD1 gene ({118190}) on 2q33.1; SPG31 ({610250}), caused by mutation in the REEP1 gene ({609139}) on 2p11; SPG30 ({610357}), caused by mutation in the KIF1A gene ({601255}) on 2q37; SPG33 ({610244}), caused by mutation in the ZFYVE27 gene ({610243}) on 10q24; SPG72 ({615625}), caused by mutation in the REEP2 gene ({609347}) on 5q31; SPG73 ({616282}), caused by mutation in the CPT1C gene ({608846}) on 19q13; and SPG80 ({618418}), caused by mutation in the UBAP1 gene ({609787}) on chromosome 9p13.\n\nAutosomal dominant spastic paraplegia has been mapped to chromosomes 9q (SPG19; {607152}), 1p31-p21 (SPG29; {609727}), 12q23-q24 (SPG36; {613096}), 8p21.1-q13.3 (SPG37; {611945}), 4p16-p15 (SPG38; {612335}), and 11p14.1-p11.2 (SPG41; {613364})." +182601,"The hereditary spastic paraplegias (SPG, HSP) are a group of clinically and genetically diverse inherited disorders characterized predominantly by progressive lower extremity spasticity and weakness. SPG is classified by mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and whether the primary symptoms occur in isolation ('uncomplicated') or with other neurologic abnormalities ('complicated').\n\nPure SPG4 is the most common form of autosomal dominant hereditary SPG, comprising up to 45% of cases ({37:Svenson et al., 2001}; {6:Crippa et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600})." +182610,"{1:Gigli et al. (1993)} described a family in which 3 brothers and 2 sons of 1 of the brothers had progressive weakness and spasticity of lower limbs, epilepsy, and mental retardation.\n\nBy linkage analysis and haplotype reconstruction, {2:Lo Nigro et al. (2003)} excluded linkage of the disorder in the family described by {1:Gigli et al. (1993)} to 8 previously mapped loci associated with autosomal dominant spastic paraplegias." +182690,"{1:Fitzsimmons et al. (1988)} presented a family in which at least 4 persons had evidence of an inherited disorder manifested by variable spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy. Focal segmental proliferative lesions with sclerosis suggestive of mesangial IgA nephropathy (Berger disease; {161950}) were found on renal biopsy in 2 affected persons. The glomerular basement membrane showed none of the changes characteristic of Alport syndrome. A mother and her 2 sons and 1 daughter by 2 different fathers were affected. By history, her deceased mother and maternal uncle were also affected." +182800,"{1:Dick and Stevenson (1953)} observed 7 cases of spastic paraplegia in 3 generations, with 2 instances of male-to-male transmission. Four of the affected had associated extrapyramidal signs." +182815,"In a family of Portuguese extraction, {1:Antinolo et al. (1992)} described 7 individuals in 4 sibships in 3 generations with a disorder comprising spastic paraplegia, demyelinating peripheral neuropathy, and poikiloderma, manifested by 'delicate, smooth, and wasted' skin from an early age and loss of eyebrows and eyelashes at age 3 years. Electroneurophysiologic studies demonstrated motor and sensory neuropathy. Sural nerve biopsy showed onion bulb formations, indicating demyelination of peripheral nerves. Distal amyotrophy was evident after puberty. There were 2 affected males but no male-to-male transmission." +182820,"{1:Raphaelson et al. (1983)} described 2 brothers who had onset of precocious puberty (due to Leydig cell hyperplasia) and spastic paraplegia at the age of 2 years. Both later had moderate mental retardation. Relatives (2 sisters, father, paternal grandfather, paternal half brother) had brisk leg reflexes and dysarthria in a pattern suggesting autosomal dominant inheritance with variable expression." +182830,"{1:Rothner et al. (1976)} described affected mother and 5 of her 6 children. The mother had onset of trouble walking at age 30 and by age 37 had pale optic discs, constricted visual fields, and early dementia in addition to the signs of spastic paraplegia. By the age of 42 she could not manage her home, mainly because of dementia. The onset of disease in the children (3 males, 2 females) was as early as age 7. See {311100} for a possible X-linked optic atrophy--spastic paraplegia syndrome." +182882,"Protamine P4 is a minor basic protein of human sperm nuclei. (Human sperm contains 4 protamines whereas most mammalian species contain only 1.) The human protamines fall into 2 families. One family contains only 1 molecular species, HP1, which shows structural relatedness to other mammalian protamines P1. The second family is represented by 3 proteins: P2, P3, and the minor protein P4. The first family shows high concentration of arginine, cysteine, and tyrosine; the second family, high amounts of arginine, cysteine and histidine. {1:Arkhis et al. (1991)} presented the complete amino acid sequence of human protamine P4 which differs from P2 and P3 only by an amino-terminal extension of 1 and 4 residues, respectively. The possibility was raised that the nuclear basic protein HPI1, which is present in low amounts in human testis and can still be detected in mature sperm nuclei, is the precursor for the 3 polypeptides P2, P3, and P4. HPI1 was cloned by {2:Martinage et al. (1990)}. It is possible that there is only one gene, that encoding HPI1, and that P2, P3, and P4 are derived therefrom. If so, the gene is presumably the one called PRM2, which has been mapped to 16p13.3 ({182890})." +182900,"Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by {57:Perrotta et al., 2008}).\n\n{16:Elgsaeter et al. (1986)} gave an extensive review of the molecular basis of erythrocyte shape with a discussion of the role of spectrin and other proteins such as ankyrin, actin ({102630}), band 4.1 ({130500}), and band 3 ({109270}), all of which is relevant to the understanding of spherocytosis and elliptocytosis (see {611904}).\n\nSee {12:Delaunay (2007)} for a discussion of the molecular basis of hereditary red cell membrane disorders.\n\n<Subhead> Genetic Heterogeneity of Hereditary Spherocytosis\n\nAlso see SPH2 ({616649}), caused by mutation in the SPTB gene ({182870}) on chromosome 14q23; SPH3 ({270970}), caused by mutation in the SPTA1 gene ({182860}) on chromosome 1q21; SPH4 ({612653}), caused by mutation in the SLC4A1 gene ({109270}) on chromosome 17q21; and SPH5 ({612690}), caused by mutation in the EPB42 gene ({177070}) on chromosome 15q15." +182920,"Spheroid body myopathy is a form of myofibrillar myopathy (MFM). Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by {1:Foroud et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 ({601419})." +182940,"Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (see {206500}) ({11:Detrait et al., 2005}). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO ({6:Botto et al., 1999}; {15:Fineman et al., 1982}). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by {34:Robinson et al., 2012}).\n\nNeural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by {3:Bartsch et al., 2012} and {23:Lei et al., 2014}).\n\nAn X-linked form of spina bifida has been suggested; see {301410}. See also folate-sensitive neural tube defects ({601634}), which are caused by genes involved in folate metabolism." +182960,"Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment. Distal HMN is also referred to as spinal Charcot-Marie-Tooth disease (spinal CMT). Distal HMN is often referred to as a 'neuronopathy' instead of a 'neuropathy' based on the hypothesis that the primary pathologic process resides in the neuron cell body and not in the axons ({7:Irobi et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Distal Hereditary Motor Neuronopathy\n\n{6:Harding (1993)} proposed a classification of distal HMN into 7 phenotypic subtypes according to age at onset, mode of inheritance, and presence of additional features. Those that show autosomal dominant inheritance include distal HMN type I, and II (HMN2A, {158590} and HMN2B, {608634}), characterized by juvenile and adult onset, respectively; HMN type V (HMN5A, {600794}, HMN5B, {614751}, and HMN5C, {619112}), characterized by upper limb involvement; HMN VII (HMN7A, {158580} and HMN7B, {607641}), with vocal cord paralysis; HMN8 ({600175}); and HMN9 ({617721}).\n\nHMN2A is caused by mutation in the HSPB8 gene ({608014}), HMN2B by mutation in the HSPB1 gene ({602195}), HMN2C ({613376}) by mutation in the HSPB3 gene ({604624}), and HMN2D ({615575}) by mutation in the FBXO38 gene ({608533}). HMN5A is caused by mutation in the GARS gene ({600287}), HMN5B is caused by mutation in the REEP1 gene ({609139}), and HMN5C is caused by mutation in the BSCL2 gene ({606158}). HMN7A is caused by mutation in the SLC5A7 gene ({608761}). HMN7B is caused by mutation in the DCTN1 gene ({601143}). HMN8 is caused by mutation in the TRPV4 gene ({605427}).\n\nSee also autosomal dominant ALS4 ({602433}) and congenital autosomal dominant distal SMA ({600175}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Distal Hereditary Motor Neuronopathy (Distal Spinal Muscular Atrophy)\n\n{6:Harding (1993)} classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3) (see DSMA3; {607088}). HMN has also been referred to as distal spinal muscular atrophy (DSMA). 'Distal' SMA is distinguished from 'proximal' autosomal recessive spinal muscular atrophy (SMA, {253300}) by the primary muscles involved. DSMA here refers to the autosomal recessive forms of HMN.\n\nSee DSMA1 (SMARD1; {604320}), caused by mutation in the IGHMBP2 gene ({600502}); DSMA2 ({605726}), caused by mutation in the SIGMAR1 gene ({601978}) on chromosome 9p13; DSMA3 ({607088}), encompassing HMN types III and IV, which maps to chromosome 11q13; DSMA4 ({611067}), caused by mutation in the PLEKHG5 gene ({611101}); and DSMA5 ({614881}), caused by mutation in the DNAJB2 gene ({604139}).\n\nSee also X-linked SMAX3 ({300489}), caused by mutation in the ATP7A gene ({300011}) on chromosome Xq21, and CMS7A ({616040}), caused by mutation in the SYT2 gene ({600104}) on chromosome 1q32." +182970,"{1:Fenichel et al. (1967)} described a family in which weakness was confined mainly to the face and pectoral girdle musculature. Onset was in early adult life and the disorder was slowly progressive. The disorder superficially resembles facioscapulohumeral muscular dystrophy, from which it is differentiated by muscle histology and electromyography. {4:Siddique et al. (1989)} could prove no linkage with 10 expressed and 7 RFLP markers. Two areas of possible linkage were defined on chromosomes 1p and 4q with the markers MNS (maximum lod = 1.47 at theta = 0.10) and PGM1 (maximum lod = 0.94 at theta = 0.001), respectively." +182980,"Spinal muscular atrophy is characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and wasting.\n\nSee also autosomal recessive adult-onset proximal spinal muscular atrophy (SMA4; {271150}), caused by defect in the SMN1 gene ({600354}), and autosomal dominant childhood-onset proximal SMA ({158600})." +182990,"{1:Aarabi et al. (1979)} reported father and daughter with surgically proven thoracic intradural arachnoid cysts. Two brothers of the father and another daughter were suspected by history to be affected also. One of these was deceased. The other two, with long-term, progressive, painless paraplegia, refused medical evaluation. The cysts were not associated with increased interpediculate distances or with distichiasis and lymphedema. The authors knew of no similar family." +183020,"Segmental spinal muscular atrophy is a form of anterior horn cell disease that affects predominantly the hand muscles ({1:Kamholz et al., 1988}). The disease is usually sporadic and nonprogressive." +183090,"Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by {21:Harding (1983)}. Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 ({164400}), SCA2, and SCA3, or Machado-Joseph disease ({109150}). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +183100,"In a 37-year-old woman, her 14-year-old son and 6-year-old daughter, {2:Sutherland et al. (1963)} described spinocerebellar atrophy with absence of pupillary reaction to light or convergence, but preservation of accommodation reflexes." +183300,"Splenogonadal fusion (SGF) is a rare congenital anomaly of abnormal fusion between the spleen and the gonad or the remnants of the mesonephros. In 'continuous SGF,' there is a cord-like connection between the 2 organs, whereas in 'discontinuous SGF,' there is fusion of accessory splenic tissue and the gonad without a distinct structural connection to the spleen itself. Forty-eight percent of individuals with continuous SGF have additional malformations, compared to 9% of those with discontinuous SGF ({3:McPherson et al., 2003})." +183400,{2:Herbst (1936)} described a kindred in which 18 persons in 4 generations had a median groove or split in the lower lip. The upper lip was fleshy and moderately everted but only 1 of the examined persons had a median cleft of the upper lip. The maxilla was narrow and the teeth crowded and irregularly aligned. {1:Gorlin (1968)} thought this may have been an example of lower lip pits ({119300}). +183500,{1:Temtamy and McKusick (1978)} described mother and son. See {129900}. +183600,"Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting ({12:Elliott and Evans, 2006}), and neurosensory hearing loss ({47:Tackels-Horne et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Split-Hand/Foot Malformation\n\nAdditional SHFM loci include SHFM2 ({313350}) on chromosome Xq26; SHFM3 ({246560}), caused by duplication of chromosome 10q24; SHFM4 ({605289}), caused by mutation in the TP63 gene ({603273}) on chromosome 3q28; SHFM5 ({606708}) on chromosome 2q31; and SHFM6 ({225300}), caused by mutation in the WNT10B gene ({601906}) on chromosome 12q13.\n\nAlso see SHFM1D ({220600}) for a form of SHFM1 with deafness that may be caused by homozygous mutation in the DLX5 gene ({600028})." +183700,"{2:Patterson and Stevenson (1964)} studied a father with the full syndrome and his son who had only the split-foot deformity. {1:Fontaine et al. (1974)} described a family in which ectrodactyly and mandibulofacial dysostosis were associated. The ectrodactyly was limited to the feet and was associated with syndactyly of some toes. The mandibulofacial dysostosis consisted of retrognathism, complete or occult posterior cleft palate, and anomalies of the outer ear which was misshapen. Four persons in 3 generations were affected. {3:Wilkie and Goodacre (1997)} provided follow-up on the 'son' reported by {2:Patterson and Stevenson (1964)} and found that 1 of his 3 sons had inherited the same condition. Thus the original family had affected individuals in 3 generations. The 'son' was described as having a normal craniofacial appearance in the original report; however, he required considerable orthodontic treatment as a child and as an adult showed moderate malar hypoplasia and microretrognathia. His hands were normal clinically. A photograph of his feet showing a split-foot deformity on the left was provided. His son, the affected member of a third generation, had unusual formation of both external ears noted at birth. Auditory evoked potentials at the age of 2 months showed a 70 decibel sensorineural hearing loss bilaterally and he was fitted with hearing aids. He showed microretrognathia and his hands and feet were normal. Although the member of the third generation did not have acrodactyly, his craniofacial appearance and audiologic abnormalities indicated that he had inherited the condition.\n\nSee mandibulofacial dysostosis with limb anomalies, or Nager syndrome ({154400})." +183800,"In a father and daughter with split-hand/split-foot deformity, {1:Karsch (1936)} found horizontal undulatory nystagmus, squint, fundal changes and cataract, which in the father appeared at a late age and in the daughter appeared earlier. {2:Neugebauer (1962)} described affected half sibs, a brother and sister aged 7 months and 42 months, respectively. The mother of the 2 children (by different husbands) was normal. Cataract was not present. {3:Pilarski et al. (1985)} reported this syndrome in a mother and 3 of her children. The mother showed in the hands the unusual articulating 'crossbone' seen in other cases of classic split-foot/split-hand. In this patient the abnormality was bilaterally symmetrical in the hands, which were monodactylous.\n\n{4:Wong et al. (1998)} reported on 2 sisters with Karsch-Neugebauer syndrome (KNS) comprising split foot and split hand anomalies in association with congenital nystagmus. The sisters shared a nearly identical phenotype with the 8 previously reported cases. Although genetic heterogeneity could not be formally excluded, most evidence suggested autosomal dominant inheritance for KNS. If this is the case, the report of 2 affected sibs born to healthy parents is the second instance of apparent gonadal mosaicism; {2:Neugebauer (1962)} described an affected male and female with the same unaffected mother but different fathers. {4:Wong et al. (1998)} gave a follow-up on the family reported by {3:Pilarski et al. (1985)}. An affected male in that family had fathered an affected boy, the first incidence of male-to-male transmission." +183802,"{1:Czeizel and Losonci (1987)} described a woman with right hydronephrosis due to 'atresia of the ureter,' who required nephrectomy when she was 12 years old. Both hands and feet had cutaneous syndactyly. She also had spina bifida occulta involving 3 lumbar vertebrae, with mild thoracolumbar scoliosis. Her first offspring, a stillborn male, had lumbosacral spina bifida cystica with hydrocephalus and split-hand/foot. Autopsy showed atresia of the right ureter with hydronephrosis. The next pregnancy produced a liveborn boy who lived only 1 month and had split-hand/foot and megaloureter with bilateral hydronephrosis and a right diaphragmatic defect of Bochdalek type." +183840,"For a phenotypic description and a discussion of genetic heterogeneity of spondyloarthropathy, see SPDA1 ({106300})." +183850,"{1:Byers et al. (1978)} studied a family in which 4 members of 3 generations had spondyloepiphyseal dysplasia (SED) and a punctate dystrophy of the full depth of the corneal stroma. The corneal dystrophy did not interfere with vision. The pedigree pattern was consistent with autosomal dominant inheritance but no male-to-male transmission was noted. The x-ray changes were different from those of X-linked SED ({313400}). By electron microscopy, marked disorganization of dermal collagen fibrils was demonstrated. The authors suggested a defect in a noncollagenous component of connective tissue that affects collagen fibril formation." +183900,"Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by {1:Anderson et al., 1990})." +184200,"Spondylolisthesis is defined as forward slipping of a vertebral body on the one below it. Spondylolysis is defined as a defect in the pars interarticularis without vertebral slipping (summary by {11:Wiltse et al., 1975})." +184250,"The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by {17:Tiller et al., 1995})." +184252,"SMD Kozlowski (SMDK) is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles ({5:Krakow et al., 2009})." +184253,"{2:Kozlowski et al. (1988)} reported an Algerian family in which 5 members had a seemingly 'new' form of spondylometaphyseal dysplasia. It was considered possible that the patient reported by {4:Schmidt et al. (1963)} had this disorder. None of the spondylometaphyseal dysplasias show a combination of such severe metaphyseal changes and severe genu valgum. Among the metaphyseal dysplasias, only the Jansen type ({156400}) shows severe metaphyseal changes, but in that disorder genu varus deformity is found and sclerosis of the skull is a common finding in older patients ({1:Holthusen et al., 1975})." +184255,"The corner fracture type of spondylometaphyseal dysplasia (SMDCF) is characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures. These 'corner fractures,' which involve the distal tibia, the ulnar aspect of the distal radius, the proximal humerus, and the proximal femur, represent irregular ossification at the growth plates and secondary ossification centers. They become larger in older children and disappear after growth has stopped. In addition, severe scoliosis has been observed in FN1-associated SMDCF, whereas developmental coxa vara is less often seen, and odontoid abnormalities have not been reported ({5:Lee et al., 2017})." +184260,"Odontochondrodysplasia-1 (ODCD1) is characterized by mesomelic shortening of tubular bones, ligamentous laxity, and scoliosis, in association with dentinogenesis imperfecta involving both primary and secondary dentition. Affected individuals show variable severity. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone-shaped epiphyses ({4:Maroteaux et al., 1996}). Clinical variability and extraskeletal manifestations have been observed ({6:Wehrle et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Odontochondrodysplasia\n\nOdontochondrodysplasia-2 with hearing loss and diabetes (ODCD2; {619269}) is caused by mutation in the TANGO1 gene (MIA3; {613455}) on chromosome 1q41." +184300,"From an x-ray study of the cervical spine in twins, {1:Bull et al. (1969)} concluded that genetic factors are significant in degenerative changes in the cervical spine. {2:Haukipuro et al. (1978)} described an extensive set of observations in a Finnish kindred descendant from two marriages of a man born in 1868. Spondylolysis was found in 22 of 105 persons x-rayed. Of these, 6 had also spondylolisthesis, 4 had spina bifida occulta, and 2 had a transitional lumbar-sacral vertebra. Of those without spondylolysis, 7 had spina bifida occulta and 10 had transitional vertebrae. The data were interpreted as consistent with autosomal dominance with about 75% penetrance for spondylolysis." +184450,"Stuttering is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks (summary by {9:Raza et al., 2010}). Stuttering typically arises in young children, where it affects at least 15% of those in age range 4 to 6 years ({1:Bloodstein, 1995}). Stuttering usually resolves spontaneously before adolescence, leading to a population prevalence of 1 to 2% among adults. Stuttering beyond childhood is characterized by a significant bias towards males, with males outnumbering females by a ratio of 3:1 to 5:1 ({11:Yairi et al., 1996}).\n\n<Subhead> Genetic Heterogeneity of Familial Persistent Stuttering\n\nAlso see STUT2 ({609261}), mapped to chromosome 12q24; STUT3 ({614655}), mapped to chromosome 3q; and STUT4 ({614668}) mapped to chromosome 16q." +184840,"Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by {2:Giedion et al., 1982}). Some patients have osteoarthritis ({1:Brunner et al., 1994})." +184850,"The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive muscle stiffness with superimposed painful muscle spasms accompanied by electromyographic evidence of continuous motor activity at rest. SPS has been associated with autoimmune disorders, diabetes mellitus, thyrotoxicosis, and hypopituitarism with adrenal insufficiency ({10:George et al., 1984}).\n\nApproximately 60% of patients with SPS have antibodies to glutamic acid decarboxylase (GAD2, or GAD65; {138275}), the rate-limiting enzyme in the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA), suggesting an immune-mediated pathogenesis ({9:Folli et al., 1993}). Approximately 10% of patients develop SPS as a paraneoplastic neurologic disorder associated with antibodies to amphiphysin (AMPH; {600418}), an intracellular protein associated with neuronal synaptic vesicle endocytosis ({3:Burns, 2005}).\n\nSee also congenital stiff-man syndrome, or hereditary hyperexplexia ({149400}), which is caused by mutations in subunits of the glycine receptor gene (GLRA1, {138491}; GLRB, {138492}).\n\n{18:Meinck and Thompson (2002)} provided a detailed review of stiff-person syndrome. They also discussed 2 possibly related conditions, progressive encephalomyelitis with rigidity (PERM), a more severe disorder with other neurologic features, and stiff-limb or stiff-leg syndrome, a focal disorder." +184900,"Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness ({3:Loeys et al., 2010}).\n\nPatients with similar phenotypes involving stiff skin have been described; see, e.g., familial progressive scleroderma ({181750}), symmetric lipomatosis ({151800}), and congenital fascial dystrophy ({228020})." +185000,"Overhydrated hereditary stomatocytosis is a variably compensated macrocytic hemolytic anemia of fluctuating severity, characterized by circulating erythrocytes with slit-like lucencies (stomata) evident on peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell Na+ content with reduced K+ content, with increased ouabain-resistant cation leak fluxes in the presence of presumably compensatory increases in ouabain-sensitive Na(+)-K(+) ATPase activity, and red cell age-dependent loss of stomatin/EBP7.2 (EBP72; {133090}) from the erythroid membrane. Clinically, patients with OHST exhibit overhydrated erythrocytes and a temperature-dependent red cell cation leak. The temperature dependence of the leak is 'monotonic' and has a steep slope, reflecting the very large leak at 37 degrees centigrade (summary by {5:Bruce, 2009} and {25:Stewart et al., 2011}).\n\nFor a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see {194380}." +185020,"Cryohydrocytosis is an exceedingly rare condition characterized by a mild stomatocytic hemolytic state with hyperbilirubinemia. A hallmark of this condition is that red blood cells (RBCs) lyse on storage at 4 degrees centigrade. RBC cation permeability is increased at 37 degrees centigrade, and the cells also accumulate sodium in the cold (summary by {5:Coles et al., 1999}). Patients present with fatigue, mild anemia, and pseudohyperkalemia due to a potassium leak from the RBCs (summary by {2:Bogdanova et al., 2010}).\n\nFor a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see {194380}." +185050,"Platelet storage pool deficiencies (SPD) comprise a range of disorders encompassing variable degrees of reduction in the numbers and contents of dense granules (delta-granules), alpha-granules, or both ({12:Weiss et al., 1979}). In addition to the more frequently occurring disorders of dense granules only (delta-SPD), 2 disorders involving alpha-granule deficiencies have been characterized: alpha/delta-SPD, which includes patients with marked deficiencies of dense granules as well as more variable deficiencies of alpha-granules; and alpha-SPD, or the gray platelet syndrome ({139090}), in which severe reductions occur only in the alpha-granules and their contents. Both disorders are associated with impaired platelet function as indicated by decreased aggregation responses.\n\n{9:Weiss et al. (1969)} described a kindred in which 10 members in 4 generations had a bleeding diathesis. There were several instances of male-to-male transmission. Six of the affected members were studied and found to have impaired release of platelet adenosine diphosphate (ADP). The platelets were smaller than normal. The major symptom was easy bruising. Ingestion of aspirin interferes with release of ADP even though the storage pool is normal. In a later paper on the same family, {3:Holmsen and Weiss (1970)} postulated that these patients lack the storage, or nonmetabolic, pool of ADP. Because of reduced release of ADP, collagen-induced platelet aggregation was impaired. By electron microscopy, {8:Weiss and Ames (1973)} showed a marked decrease in platelet dense bodies. Since both serotonin and the storage pool of adenine nucleotides are deficient in these platelets, the dense bodies may normally store them. {13:Willis and Weiss (1973)} showed that prostaglandin production is impaired in this disorder. In studies of 18 patients, {12:Weiss et al. (1979)} identified several defects, indicating heterogeneity. In 7 patients with albinism (Hermansky-Pudlak syndrome; {203300}) and in 4 other unrelated patients, they found a deficiency of dense granules and dense granule substances. They termed this delta-SPD. In 7 other patients, they observed variable deficiencies of alpha-granules and of heparin-neutralized activity (HNA), platelet factor 4 (PF4), beta-thromboglobulin, fibrinogen, and platelet-derived growth factor (PDGF) in addition to dense granule defects. The disorder in one of these with the greatest alpha-granule defects was designated as alpha-delta-SPD. The partial deficiency in alpha granules and granule-bound substances, observed in 6 members of 2 unrelated families, was designated alpha(P)-delta-SPD. The two types of granules are observed by electron microscopy: the more numerous alpha-granules of variable electron density and the less numerous, smaller granules of highest electron density. Delta-storage pool disease appears to be an autosomal recessive (see {203300}). The 2 families with alpha(P)-delta-SPD had, in one, affected mother and 2 children and in the second (Iranian in extraction) affected father and daughter and son. In the first family, the platelets of the affected persons showed also a unique lipid defect and increased amounts of glycoprotein IV. Secretable acid hydrolases were normal in all these patients, a finding consistent with their storage in lambda granules (lysosomes). The fact that in delta-SPD with normal alpha-granules, HNA, PF4, beta-thromboglobulin, fibrinogen, and PDGF were normal supports the conclusion that these substances are stored in the alpha-granules. Dense granules store serotonin, calcium, pyrophosphate, ATP, and ADP. {10:Weiss et al. (1980)} pointed out that storage pool deficiency can be an acquired disorder. The proband in the family reported by {1:Caen et al. (1968)} died of primary pulmonary hypertension ({178600}). {2:Herve et al. (1990)} suggested that the pulmonary hypertension was a consequence of the inherited platelet storage deficiency associated with a high level of 5-hydroxytryptamine (5-HT) in plasma. Administration of ketanserin, a 5-HT antagonist, substantially reduced pulmonary hypertension. The proband had had episodes of excessive bleeding since infancy. {5:Lages et al. (1991)} demonstrated heterogeneity in SPD patients. Some with severe alpha/delta-SPD had only about half normal amounts of the alpha-granule membrane protein GMP-140 ({173610}) while others had normal GMP-140 content, as measured immunologically. {7:Rosa et al. (1987)} found that both the content and the surface expression of GMP-140 were similar to that in normal platelets in 2 patients with alpha-SPD." +185069,"{1:Weisman et al. (1989)} suggested the designation Storm syndrome for a disorder with male-to-male transmission observed in members of 5 generations of a family of German extraction with the name Storm. Early progressive calcific cardiac valvular disease dominated the clinical picture. The cardiac lesions occurred in the mitral and aortic valves predominantly, with mitral valve prolapse, myxomatous degeneration and progression to severe calcific mitral stenosis and aortic stenosis with calcified annuli of both valves. Loss of eyebrows and eyelashes and thinning and graying of scalp hair began in adolescence. This, together with the taut skin over the hands and face and the excessive wrinkling of the palmar skin, created a prematurely aged appearance. Differences from Werner syndrome ({277700}) were dominant inheritance and lack of cataracts and scleroderma-type changes. Several young adults showed polyarticular arthropathy (diagnosed as Still disease in some); in combination with valvular heart disease, rheumatic fever was diagnosed. Intestinal fat malabsorption also occurred." +185070,"Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia, tubular aggregate myopathy, congenital miosis, and ichthyosis. Additional features may include headache or recurrent stroke-like episodes (summary by {2:Misceo et al., 2014})." +185100,"Strabismus, a misalignment of the eyes also referred to as 'squint,' is one of the most common ocular disorders in humans, affecting 1 to 4% of the population. It is frequently associated with amblyopia (uniocular visual neglect) ({9:Parikh et al., 2003}).\n\nStrabismus is also a feature of several syndromes, including congenital fibrosis of extraocular muscles (see, e.g., CFEOM1; {135700}), Duane retraction syndrome ({126800}), and chronic progressive external ophthalmoplegia with myopathy ({530000})." +185120,"{3:Stratton and Parker (1989)} described a 17-month-old boy with short stature due to growth hormone deficiency, wormian bones, brachycamptodactyly, midshaft hypospadias, hypoplastic left kidney, and imperforate anus. {1:Gabrielli et al. (1994)} described a 10-year-old boy with short stature due to growth hormone deficiency and other features which they thought represented the same disorder as that reported by {3:Stratton and Parker (1989)}. There is no suggestion as to the genetics of the disorder. Both were isolated cases, the offspring of healthy, nonconsanguineous parents. The older patient had a curious hemimegalencephaly with unilateral enlargement of the ventricle.\n\n{2:Spadoni et al. (2004)} reported a boy with isolated growth hormone deficiency, body asymmetry, and brachycamptodactyly, in whom anorectal agenesis and cryptorchidism were detected at birth. The authors proposed that this association of growth hormone deficiency with intestinal, genital, and limb abnormalities represents another case of Stratton-Parker syndrome." +185300,"Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by {16:Thomas-Sohl et al., 2004})." +185460,"{2:Miller (1957)} found congenital cyanosis in 3 generations of a California family in a pattern consistent with autosomal dominant inheritance. There was 1 instance of male-to-male transmission. The proband was a newborn baby with cyanosis. Spectroscopic analysis of the hemoglobin of affected persons showed no significant methemoglobinemia but 1.0 to 1.4 g/dl of sulfhemoglobin. No exposure to oxygen agents could be documented. {1:Bunn and Forget (1986)} suggested that the affected members of this family had an unstable hemoglobin variant, a disorder compatible with dominant inheritance. They cited an observation that a patient with hemoglobin Olmsted ({141900.0208}) had significant levels of sulfhemoglobin. Most sulfhemoglobinemia is acquired and occurs in individuals exposed to oxidant compounds, the arylamines being the most common offenders. When acetanilide and phenacetin were in common use as analgesics, sulfhemoglobinemia was encountered rather frequently. In patients with cyanosis induced by acetaminophen, the level of sulfhemoglobin may exceed that of methemoglobin. Dapsone can also induce increased levels of both hemoglobin derivatives. An association of cyanosis with disturbance of bowel function, so-called enterogenous cyanosis, has long been recognized. Sulfhemoglobin was often the predominant derivative in patients with constipation, whereas those with diarrhea had predominantly methemoglobin. The combination of bowel stasis, as in constipation, and exposure to aniline derivatives is probably responsible." +185540,"By the study of mouse-human lymphocyte hybrids, {3:Nikinmaa et al. (1983)} assigned to chromosome 11 the gene for a cell surface glycoprotein recognized by a mouse monoclonal antibody, Mab4. The antigen is present on all human peripheral blood leukocytes on human fibroblasts and on human lymphoid and erythroid cell lines but not on erythrocytes. Its apparent molecular weight is 75,000. The F10.44.2 antigen ({143040}) has a molecular weight of 105,000. The cell surface antigen demonstrated by {1:Barnstable et al. (1978)} and mapped to chromosome 11 is a glycolipid as is probably that of {2:Buck and Bodmer (1975)}, likewise mapped to chromosome 11. At least one of the 'lethal antigens' mapped to chromosome 11 (a1, {151250}) by the Denner group is a macroglycolipid. These differences plus some differences in tissue distribution suggest that the cell surface glycoprotein mapped by {3:Nikinmaa et al. (1983)} may be distinct." +185600,"{1:Garn et al. (1965)} described fusion across the interphalangeal joints of the toes as an isolated inherited anatomical variant, often secondary to absence of secondary ossification centers of the feet. The hands are not comparably involved. It is rare for all of the toes to be involved." +185610,"{1:Carlin (1983)} analyzed iodinated cell surface polypeptides of human-mouse somatic cell hybrids by one-dimensional sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and high resolution two-dimensional gel electrophoresis. A correlation was found between human chromosome 5 and a polypeptide of molecular weight 250,000 and isoelectric point 8.3 (SPA5). Furthermore, a correlation was found between human chromosome 2 and a polypeptide of the same molecular weight but isoelectric point 7.0 (SPA2). It seems possible that the identified and assigned genes are identical to some surface protein genes that have been previously assigned: e.g., on chromosome 5, diphtheria toxin sensitivity ({126150}) or beta-adrenergic receptor ({109690}). The anonymous (function-unknown) surface polypeptides demonstrated by {1:Carlin (1983)} are provisionally designated SPA followed by the number of the chromosome." +185700,"Distal symphalangism is ankylosis or rigidity of the distal interphalangeal joints of the hands and/or the feet (summary by {5:Poush, 1991})." +185750,"{1:Learman et al. (1981)} studied an Arabic kindred in which the father and 5 of his 11 children had proximal symphalangism with syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern. All the features showed considerable variability. No linkage was demonstrated with the marker traits studied." +185800,"Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness ({15:Strasburger et al., 1965}).\n\n<Subhead> Genetic Heterogeneity of Proximal Symphalangism\n\nAnother form of proximal symphalangism (SYM1B; {615298}) is caused by mutation in the GDF5 gene ({601146})." +186000,"Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by {22:Merlob and Grunebaum, 1986}).\n\nIn some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions ({14:Goodman et al., 1998}).\n\n{20:Malik (2012)} reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes.\n\n<Subhead> Genetic Heterogeneity of Synpolydactyly\n\nSee also SPD2 ({608180}), caused by mutation in the fibulin-1 gene (FBLN1; {135820}) on chromosome 22q13, and SPD3 ({610234}), which has been mapped to chromosome 14q11.2-q12." +186500,"Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by {16:Takahashi et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Multiple Synostoses Syndrome\n\nOther forms of multiple synostoses syndrome include SYNS2 ({610017}), caused by mutation in the GDF5 gene ({601146}) on chromosome 20q11; SYNS3 ({612961}), caused by mutation in the FGF9 gene ({600921}) on chromosome 13q12; and SYNS4 ({617898}), caused by mutation in the GDF6 gene ({601147}) on chromosome 8q22." +186550,"Liebenberg syndrome is an upper limb malformation characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation (summary by {4:Spielmann et al., 2012})." +186580,"Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by {3:Borzutzky et al., 2010}). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction ({19:Shetty and Gedalia, 1998})." +186600,"Multiple syringomas or sweat gland tumors occur particularly on the face and around the eyes. They are not to be confused with milia, which are intraepithelial cysts. Familial occurrence is, it seems, a commonplace observation of dermatologists and autosomal dominant inheritance is likely ({2:Reed, 1967}). {3:Reed (1970)} described a family in which 7 females and 1 male in 4 generations were affected. {5:Yesudian and Thambiah (1975)} described identically affected brothers. Familial occurrence was reported also by {1:Headington et al. (1972)} and by {4:Woringer and Eichler (1951)}." +186700,"Syringomyelia (Greek: 'syrinx,' pipe, and 'myelos,' marrow) is a tubular cavity in the spinal cord. It can occur sporadically in association with spinal cord tumors, inflammatory arachnoiditis, or posttraumatically. It is rarely idiopathic (less than 1% of cases). The vast majority of cases of syringomyelia are cervical, noncommunicating, and associated with an abnormality at the foramen magnum, particularly the Chiari malformation type I (CM1; {118420}), as well as basilar impression ({109500}) and Dandy-Walker malformation ({220200}) ({14:Speer et al., 2003}; {10:Levine, 2004}); these cases have shown familial segregation.\n\nThe form of syringomyelia discussed here is 'noncommunicating' with the fourth ventricle, but may communicate with the subarachnoid space. In contrast, 'communicating' syringomyelia, or 'hydromelia,' opens rostrally into the fourth ventricle and almost always occurs in children with hydrocephalus, Chiari malformation type II (CM2; {207950}), and spina bifida (see {182940}) ({10:Levine, 2004})." +186750,Talonavicular coalition is not as frequent as calcaneonavicular coalition ({186400}) or talocalcaneal coalition. {1:Challis (1974)} described talonavicular coalition in 2 and perhaps 4 generations with male-to-male transmission. Fifth finger clinodactyly was associated and at least one had proximal symphalangism ({185800}) of the fifth finger on one side. {2:Rothberg et al. (1935)} described bilateral talonavicular coalition in a mother and daughter. +186850,"Tarsal coalition is a fibrous, cartilaginous, or osseous union of two or more tarsal bones and is of congenital origin. Calcaneonavicular and middle-facet talocalcaneal coalitions are the most common (summary by {2:Mosier and Asher, 1984})." +186890,"By electrophoresis of human tears on slab polyacrylamide gels, {1:Azen (1976)} demonstrated polymorphism of anodally migrating proteins. Family studies indicated simple codominant inheritance. Population frequency data were given.\n\nData on gene frequencies of allelic variants were tabulated by {2:Roychoudhury and Nei (1988)}." +186950,The approach used by {1:van Leeuwen et al. (1980)} to demonstrate T-cell subgroups involved selecting sera with strong leukocyte antibodies and testing them against a panel of cells obtained from donors who are compatible for the known HLA antigens with the antibody producer. {2:Van Leeuwen et al. (1982)} called this the HLA-CAP approach (compatible with antibody producer). +187030,See {187020}. +187050,"Natal teeth are teeth present at birth and neonatal teeth are teeth that erupt within a month after delivery. {8:Sibert and Porteous (1974)} observed natal teeth in 6 members of a kindred. {5:Limrick (1893)} first observed natal teeth in a mother, her son and her sister's daughter.\n\n{3:Bodenhoff and Gorlin (1963)} reported a frequency of about 1 in 3,000 live births for natal teeth. {1:Alaluusua et al. (2002)} reported a prevalence of 1 in 1,000 for natal and neonatal teeth in Finland. {7:Ribnik and Hoyme (1989)} found an increased frequency of natal teeth in native Americans, particularly in those of Athabascan origin.\n\n{1:Alaluusua et al. (2002)} found no association between median levels of environmental toxicants in breast milk and early tooth eruption.\n\nNatal teeth occur with Ellis-van Creveld syndrome ({225500}), pachyonychia congenita (see {167200}), and Hallermann-Streiff syndrome ({234100}).\n\nKing Louis XIV of France was born with teeth, 'a considerable vexation to his wet-nurses' ({6:McKusick, 1955}). According to {3:Bodenhoff and Gorlin (1963)}, the illustrious company also includes Richard III, Zoroaster, Hannibal, Mirabeau, Richelieu, Mazarin, and Broca." +187100,"{3:Finn (1967)} presented a pedigree in which all females (numbering 14) were affected and all males (numbering 3) were unaffected, in 5 sibships in 3 generations. The author suggested X-linked dominant inheritance with female limitation, or female-limited autosomal dominant inheritance. In some of the affected females the supernumerary teeth occurred in the midline of the maxilla, so-called mesiodens.\n\n{1:Babu et al. (1998)} reported a mother and daughter with nonsyndromic multiple impacted normal and supernumerary teeth ({308280}).\n\n{2:Chan et al. (2009)} described the occurrence of semilobar holoprosencephaly (HPE; see {236100}) in the child of a mother with mesiodens and suggested that the supernumerary maxillary tooth may be a microform of HPE." +187290,"Five separate temperature-sensitive (ts) cell cycle specific mutations in cultured cell lines are known to be complemented by human genes, each situated on a different chromosome ({2:Ming, 1984}). The ts mutant Syrian hamster cell line AF8 ({116950}) shows arrest in G1, 8.6 hours before the S phase; the complementing human gene is on chromosome 3. The H142 ts mutant is complemented by a gene on chromosome 9 ({1:Baserga et al., 1982}). Arrest at nonpermissive temperatures occurs at the early S phase." +187300,"Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9.\n\n<Subhead> Genetic Heterogeneity of Hereditary Hemorrhagic Telangiectasia\n\nSee also HHT2 ({600376}), caused by mutation in the ALK1 gene (ACVRL1; {601284}) on chromosome 12q13; HHT3 ({601101}), mapped to chromosome 5q31; HHT4 ({610655}), mapped to chromosome 7p14; and HHT5 ({615506}), caused by mutation in the GDF2 gene ({605120}) on chromosome 10q11.\n\nSee also juvenile polyposis/HHT syndrome ({175050}), caused by mutation in the SMAD4 gene ({600993})." +187310,"The ts mutation of Chinese hamster cells, the K12 cell line, is characterized by arrest of cell division in G1, 1.8 hours before the S phase ({1:Ming, 1984}). {2:Ming et al. (1979)} showed that human chromosome 14 is complementing." +187320,"The mutant, temperature-sensitive rodent cell line ts13 shows arrest of growth in G1, 3.3 hours before the S phase when exposed to nonpermissive temperatures ({2:Ming, 1984}). The complementing human gene maps to chromosome 4 ({1:Baserga et al., 1982})." +187330,"In the ts546 temperature-sensitive rodent cell line, the arrest of cell division, when the cells are grown at nonpermissive temperatures, is in metaphase ({2:Ming, 1984}). {1:Baserga et al. (1982)} showed that the complementing human gene is on chromosome 6." +187340,"While testing diploid skin fibroblast cell strains from patients with Cockayne syndrome for enhancement of mutagen sensitivity at elevated temperatures, {1:Hoar (1981)} observed a cell strain unable to form colonies at 39 degrees C. Testing of cells from the parents showed temperature-sensitive lethality in the cells of the father." +187350,"{2:Pryor (1969)} gave normal values for various interpupillary measurements. {1:Juberg and Hirsch (1971)} described primary telecanthus, increased separation of the medial canthi without abnormal separation of the orbits, in 5 females and 3 males of 5 generations. There was no instance of male-to-male transmission. The phenotype is that displayed by Jacqueline Kennedy Onassis. One instance of nonpenetrance was observed. Bilateral cleft lip and cleft palate occurred in some. Mental retardation and dental agenesis may be occasional manifestations of the gene." +187370,"For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A ({108120})." +187390,"In a family with an apparently unrelated mendelian anomaly, angiolipomatosis ({206550}), {1:Hapnes et al. (1980)} reported a mother and daughter with bilaterally anomalous attachment of the extensor tendons to the four ulnar fingers. The tendons were split and dislocated from their usual position on the dorsum of the phalanges. Instead they were attached to the medial and lateral aspects of the middle phalanges. This caused a constant 70 degree flexion in the midphalangeal joints and inability to extend the fingers. Following reconstructive surgery, both persons obtained satisfactory function." +187400,"{3:Cunningham (1960)} observed testicular torsion in 3 brothers, aged 14, 15 and 21. The father and 2 other brothers had hypermobility of the testicle but had not suffered acute torsion. The anatomic peculiarity is presumably inherited and is either autosomal dominant (obviously male-limited), or Y-linked. {1:Castilla et al. (1975)} reported neonatal testicular torsion in 2 brothers. The authors favored X-linked or autosomal recessive inheritance. {2:Collins and Broecker (1989)} described a family in which a father and 3 brothers had torsion of the spermatic cord. All of 3 sons presented at the age of 16 years with acute unilateral testicular pain. The genetics in this family is not completely clear because although all 3 sons had the same mother, the affected father was the sire of only 2 of the 3. {2:Collins and Broecker (1989)} found reports of 4 families." +187501,"{1:Chen and D'Souza (1990)} described a family in which 3 girls had congenital glaucoma and tetralogy of Fallot. The mother also had congenital glaucoma, but had no heart defect." +187510,"{3:Svejcar et al. (1976)} described 2 brothers with only the fifth digit on each limb. There were no other abnormalities and no consanguinity was known. This may have been an instance of gonadal mosaicism because {2:Sommer and Hines (1992)} described a clear instance of autosomal dominant inheritance; indeed, in that family, 3 persons were affected in the first generation, suggesting germinal mosaicism. Two instances of 2-generation tetramelic monodactyly were referenced by {2:Sommer and Hines (1992)}. This trait may be intimately related or perhaps identical to split-hand/foot malformation (ectrodactyly; {183600}), which is notorious for the phenomenon of presumed or possible germinal mosaicism ({1:David, 1972})." +187550,"{5:Semenza et al. (1984)} studied an Albanian family in which 2 children (brother and sister) had beta-thalassemia and the mother had high Hb A2-beta-thalassemia trait. The children inherited different beta-globin clusters from their father. Nucleotide sequence analysis of the girl's paternal beta-globin and its flanking regions showed no base change of known functional significance. Furthermore, when introduced into HeLa cells, the gene was expressed at normal levels with proper processing of RNA. Thus, {5:Semenza et al. (1984)} concluded that the allele responsible for the silent carrier status of the father is not located within the beta-globin cluster and that this represents a novel form of beta(+)-thalassemia. (The silent carrier allele is known in Mediterranean populations. Its presence is identified genetically when thalassemia occurs in offspring with only 1 parent being a clinically recognizable carrier and biochemically by detection of a decreased beta/alpha globin synthesis ratio in peripheral erythroid cells. The microcytic, hypochromic red cells containing elevated levels of Hb A2, Hb F, or both, characteristically seen in persons heterozygous for beta-thalassemia, are not present.) Trans-acting factors that affect the expression of genes of the beta-globin gene cluster are suggested by the findings in some cases of hereditary persistence of fetal hemoglobin ({3:Old et al., 1982}; {2:Gianni et al., 1983}); see {142470}. {1:Emerson and Felsenfeld (1984)} presented evidence for a trans-acting factor affecting beta-globin gene expression at the level of transcription. Presumably, genetic mechanisms exist that serve to maintain balanced levels of alpha- and beta-globins in normal persons. The mechanism of coordinate regulation of the genes coding for the different subunits of heteromeric proteins is a general question because the rule is that such subunits are coded by different chromosomes. {6:Thein et al. (1993)} indicated that the findings in the family studied by {5:Semenza et al. (1984)} turned out to be the result of a recombination event ({4:Schwartz et al., 1988}). They reported an English family with beta-thalassemia in which a recombination event did not appear to be the explanation for the failure to find linkage of the disorder with the beta-globin cluster. Affected members had the hallmarks of heterozygous beta-thalassemia, i.e., elevated levels of hemoglobin A2 and imbalanced globin chain synthesis. Sequence analysis showed no mutations in or around the beta-globin genes, and linkage analysis showed that the gene responsible for the beta-thalassemia phenotype segregated independently of the beta-gene complex." +187600,"Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. {36:Norman et al. (1992)} classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) ({28:Langer et al., 1987})." +187601,"Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. {7:Norman et al. (1992)} classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), whereas TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1; {187600}) ({4:Langer et al., 1987})." +187650,"{2:Miller et al. (1979)} did family studies suggesting significant heritability in the half-life of theophylline (0.42-0.77). Studies of the family of the index case with the longest half-life suggested autosomal dominant inheritance of markedly prolonged half-life. {1:Miller et al. (1985)} did twin and family studies. The twin study demonstrated that interindividual variation is under predominantly genetic control. In 79 unrelated adults, each distribution curve for rate constants of formation of each theophylline metabolite appeared to be trimodal. In 6 families, assignment of phenotype for hepatic theophylline metabolism was made by the position of each family member's rate constant on the 3 distribution curves that were generated from the 79 unrelated subjects. In each family, pedigree analysis of the 3 phenotypes for each rate constant was consistent with their control by 2 alleles at a single genetic locus and with autosomal codominant transmission. Frequencies of the 2 alleles at each locus were about 0.50. The metabolism of antipyrine appeared to be under separate genetic control." +187750,"{1:Rabushka et al. (1973)} described a family in which the father and all 5 children had a constricted, bell-shaped thorax with foreshortened and deformed ribs and pectus excavatum. Clinically, there were repeated respiratory illnesses but no fatalities. No changes elsewhere in the skeleton were described. The changes in the ribs were identical to those in osteodysplasty of Melnick and Needles ({309350})." +187800,"Platelet-type bleeding disorder-16 (BDPLT16) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by {5:Kunishima et al., 2011} and {6:Nurden et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Glanzmann Thrombasthenia-like with Macrothromocytopenia\n\nSee BDPLT24 ({619271}), caused by mutation in the ITGB3 gene ({173470}) on chromosome 17q21.32. Together the ITGB2B and ITBG3 genes form an integrin, known as platelet glycoprotein GPIIb/III, that is expressed on platelets." +187900,"Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by {4:Monteferrario et al., 2014})." +187940,"{1:Kajii et al. (1991)} described a 'new' genetic polymorphism of the human platelet detected by 2-D polyacrylamide gel electrophoresis followed by silver-staining. The polymorphic polypeptide had a molecular weight of 34 kD and an isoelectric point of 4.7-4.8. Three different electrophoretic types were identified: 1-1, 1-2, and 2-2. Family and population studies indicated that the 3 phenotypes were determined by 2 common alleles at a single autosomal locus. In a Japanese population, the gene frequencies of THB*1 and THB*2 were 0.74 and 0.26, respectively." +187950,"Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by {27:Wiestner et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Thrombocythemia\n\nTHCYT2 ({601977}) is caused by germline or somatic mutation in the THPO receptor gene (MPL; {159530}) on chromosome 1p34, and THCYT3 ({614521}) is caused by germline or somatic mutation in the JAK2 gene ({147796}) on chromosome 9p.\n\nSomatic mutations in the TET2 ({612839}), ASXL1 ({612990}), SH2B3 ({605093}), and SF3B1 ({605590}) genes have also been found in cases of essential thrombocythemia. Somatic mutation in the CALR gene ({109091}) occurs in approximately 70% of essential thrombocythemia patients who lack JAK2 and MPL mutations ({15:Klampfl et al., 2013}; {16:Nangalia et al., 2013})." +188000,"Thrombocytopenia-2 (THC2) is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by {19:Pippucci et al., 2011}).\n\nFor a discussion of genetic heterogeneity of thrombocytopenia, see {313900}." +188020,"{1:Aranda and Dorantes (1977)} described cyclic thrombocytopenia in a boy and his father. Four sibs showed cyclic variation in platelet counts from the normal to the thrombocytosis range. {2:Lewis (1974)} suggested that thrombopoietin deficiency underlies some cases of cyclic thrombocytopenia. A preponderance of reported cases have been female and sporadic. {2:Lewis (1974)} demonstrated that excessive peripheral platelet destruction was not occurring. Furthermore, platelets rose between menstrual periods, a normal response presumably to sex hormones." +188030,"Autoimmune thrombocytopenic purpura is characterized by a low platelet count, normal bone marrow, and the absence of other causes of thrombocytopenia. It is principally a disorder of increased platelet destruction mediated by autoantibodies to platelet-membrane antigens ({7:George et al., 1994})." +188050,"Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by {11:Seligsohn and Lubetsky, 2001} and {12:Varga and Kujovich, 2012}).\n\n<Subhead> Genetic Heterogeneity of Thrombophilia\n\nTHPH2 ({188055}) is caused by mutation in the F5 gene ({612309}) on chromosome 1q23; THPH3 ({176860}) and THPH4 ({612304}) are both caused by mutation in the PROC gene ({612283}) on 2q; THPH5 ({612336}) and THPH6 ({614514}) are caused by mutation in the PROS1 gene ({176880}) on 3q11; THPH7 ({613118}) is caused by mutation in the AT3 gene ({107300}) on 1q25; THPH8 ({300807}) is caused by mutation in the F9 gene ({300746}) on Xq27; THPH9 ({612348}) is associated with decreased release of tissue plasminogen activator (PLAT; {173370}); THPH10 ({612356}) is caused by mutation in the HCF2 gene ({142360}) on 22q11; THPH11 ({613116}) is caused by mutation in the HRG gene ({142640}) on 3q27; and THPH12 ({614486}) is associated with variation in the THBD gene ({188040}) on 20p11.\n\nSusceptibility to thrombosis has also been associated with variation in additional genes, including MTHFR ({607093.0003}); F13B ({134580.0003}); plasminogen activator inhibitor (SERPINE1; {173360}); and several genes encoding fibrinogen (FGA, {134820}; FGB, {134830}; FGG, {134850}). Variation in the SERPINA10 (see {605271.0001}), KNG1 ({612358}) and HABP2 ({603924}) genes has also been reported.\n\nProtection against venous thrombosis is associated with variation in the F13A1 gene ({134570}) on 6p25." +188055,"Thrombophilia due to activated protein C resistance is due to a mutation in the F5 gene that renders factor V resistant to cleavage and inactivation by activated protein C (PROC; {612283}) and results in a tendency to thrombosis.\n\nSee also factor V deficiency ({227400}), an allelic disorder resulting in a hemorrhagic diathesis due to lack of factor V.\n\nThe most common mutation that causes this disorder is referred to as factor V Leiden (R506Q; {612309.0001}), named after the town in the Netherlands where {2:Bertina et al. (1994)} discovered the defect. Homozygosity increases the risk of thrombotic complications to a greater extent than heterozygosity. However, heterozygous presence of the mutation may be combined with defects in other genes in the clotting pathway to contribute to the disorder. Expressivity is variable and influenced by environment." +188100,{1:Bilbrey (1966)} described thumb deformity of the type seen with the heart-hand syndrome. The thumb was either absent or hypoplastic. The published x-rays do not demonstrate whether the metacarpal of the thumb when present had an epiphyseal ossification center at each end. No cardiac anomaly was detected in any of the 13 affected persons in 3 generations. The pedigree contained no instance of male-to-male transmission. +188201,"Stiff thumbs were accompanied by brachydactyly type A1 ({112500}) and mental retardation in females in 3 generations of the family reported by {2:Piussan et al. (1983)}. This is clearly a different disorder from C. S. Lewis symphalangism ({185650}). {1:Barber et al. (1990)} reported an isolated case of stiff thumbs and developmental delay which they thought represented the same disorder as that reported by {2:Piussan et al. (1983)}. Since the father was 59 years old, new dominant mutation was suspected." +188400,"DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; {192430}); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol." +188455,"Thyroglossal duct cysts are common benign cervical masses. They represent a remnant of the thyroglossal duct that fails to regress during fetal development. Nearly all cases present sporadically in young children as slowly enlarging midline neck mass (summary by {3:Greinwald et al., 1996})." +188470,"Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; {155240}). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell ({607464}), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, {175100}, Carney complex, {160980}) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by {3:Vriens et al., 2009}).\n\nFollicular thyroid cancer (FTC) accounts for approximately 15% of NMTC and is defined by invasive features that result in infiltration of blood vessels and/or full penetration of the tumor capsule, in the absence of the nuclear alterations that characterize papillary carcinoma. FTC is rarely multifocal and usually does not metastasize to the regional lymph nodes but tends to spread via the bloodstream to the lung and bones. An important histologic variant of FTC is the oncocytic (Hurthle cell, oxyphilic) follicular carcinoma composed of eosinophilic cells replete with mitochondria (summary by {1:Bonora et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550})." +188550,"Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; {155240}). NMTC is classified into 4 groups: papillary, follicular ({188470}), Hurthle cell ({607464}), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a component of a familial cancer syndrome (e.g., familial adenomatous polyposis, {175100}; Carney complex, {160980}) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by {57:Vriens et al., 2009}).\n\nPTC is characterized by distinctive nuclear alterations including pseudoinclusions, grooves, and chromatin clearing. PTCs smaller than 1 cm are referred to as papillary microcarcinomas. These tumors have been identified in up to 35% of individuals at autopsy, suggesting that they may be extremely common although rarely clinically relevant. PTC can also be multifocal but is typically slow-growing with a tendency to spread to lymph nodes and usually has an excellent prognosis (summary by {5:Bonora et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Nonmedullary Thyroid Cancer\n\nOther susceptibilities to nonmedullary thyroid cancer include NMTC2 ({188470}), caused by mutation in the SRGAP1 gene ({606523}); NMTC3 ({606240}), mapped to chromosome 2q21; NMTC4 ({616534}), caused by mutation in the FOXE1 gene ({602617}); and NMTC5 ({616535}), caused by mutation in the HABP2 gene ({603924}).\n\nA susceptibility locus for familial nonmedullary thyroid carcinoma with or without cell oxyphilia (TCO; {603386}) has been mapped to chromosome 19p." +188560,{1:Wortsman et al. (1983)} described eumetabolic hyperthyroxinemia without alteration in serum protein binding of T4 in a 74-year-old woman. The basic defect appeared to be a selective defect in transport of T4 across the plasma membrane as shown by in vitro studies of erythrocytes. A 53-year-old daughter and a 23-year-old grandson had similar findings. The proband and her daughter had enlarged thyroid glands located mostly substernally. A deceased sister of the proband had had a goiter. Two other children of the proband and 7 other grandchildren were unaffected. +188570,"Generalized thyroid hormone resistance is characterized by elevated serum levels of free thyroid hormones with inappropriately elevated thyroid-stimulating hormone (TSH) as well as clinical and biochemical evidence of decreased thyroid hormone action. Affected individuals also show unresponsiveness to large doses of exogenous thyroid hormones (summary by {12:Parrilla et al., 1991})." +188580,"Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP; {170400}), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by {9:Kung, 2006}).\n\n<Subhead> Genetic Heterogeneity of Thyrotoxic Periodic Paralysis\n\nSee also TTPP2 ({613239}), conferred by variation in the KCNJ18 gene ({613236}) on chromosome 17p11, and TTPP3 ({614834}), mapped to chromosome 17q24." +188700,"Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by {7:Sabharwal, 2009})." +188800,"Tibial torsion (twisting of the tibia) can cause toeing in or out, depending on whether it is internal or external torsion. Although some degree of internal tibial torsion is present in almost all infants because of the intrauterine position, it usually corrects spontaneously. Persistence of internal tibial torsion may be inherited as an autosomal dominant trait (summary by {2:Fitch, 1974})." +188830,"PRKAR1A is a critical component of type I protein kinase A (PKA), the main mediator of cAMP signaling in mammals. PKA is a tetramer consisting of 2 regulatory and 2 catalytic subunits. It is inactive in the absence of cAMP. Activation occurs when 2 cAMP molecules bind to each regulatory subunit, eliciting a reversible conformational change that releases active catalytic subunits. Four distinct regulatory subunits of PKA have been identified: RI-alpha, RI-beta ({176911}), RII-alpha ({176910}), and RII-beta ({176912}). Phosphorylation mediated by the cAMP/PKA signaling pathway is involved in the regulation of metabolism, cell proliferation, differentiation, and apoptosis (review by {7:Bossis and Stratakis, 2004})." +188850,"The TL antigen (Tla) is a mouse MHC-encoded, nonclassical class I molecule with an unusual structure, expression pattern, and function. Its function is defined not by Ag presentation, but rather by its relatively high affinity binding to CD8aa compared with CD8ab. The existence of a human homolog for mouse Tla remains unresolved (review by {1:Attinger et al., 2005}).\n\nThe mouse TL antigens are class I, beta-2 microglobulin-associated glycoproteins ({3:Michaelson et al., 1986}).\n\n{2:Leishman et al. (2001)} used tetramer analysis in a mouse model to show that Tla, which is expressed abundantly on intestinal epithelial cells, preferentially binds to the homotypic form of Cd8a (Cd8a-Cd8a; see {186910}), in contrast to other major histocompatibility complex molecules that bind to Cd8a-Cd8b (see {186730}). Flow cytometric analysis demonstrated that most intestinal intraepithelial lymphocytes (IELs), but not splenocytes, react specifically to Tla tetramers. Binding was equivalent to T-cell receptor (TCR) alpha (see {186880})-beta (see {186930}) and TCR gamma (see {186970})-delta (see {186810}) T cells. {2:Leishman et al. (2001)} concluded that CD8A-CD8A on IELs acts semiautonomously, rather than as a T-cell receptor coreceptor. They suggested that expression of Cd8a-Cd8a on IELs could have important regulatory effects that influence homeostasis, activation, and survival of IELs under the high antigen load of the intestine." +189000,"The fifth toe may show either 2 or 3 phalanges ({1:Venning, 1953-54}). Sib pairs showed a correlation coefficient of 0.28." +189100,{1:Garber (1950)} reported 5 persons in 3 generations with toes peculiarly positioned in relation to each other. There was male-to-male transmission. +189150,"{1:McKusick (1986)} observed 2 kindreds in which rotation of the fifth toes on their long axis, with laterally facing nail, was transmitted as an autosomal dominant trait." +189200,"{2:Kaplan (1964)} claimed that the relative length of the hallux and second toe is simply inherited, long hallux being recessive. In Cleveland Caucasoids the frequency of the dominant and recessive phenotypes was 24% and 76%, respectively. Usually the first toe is longest, although in the Ainu the second toe is said to be longest in 90% of persons. In Sweden, {3:Romanus (1949)} found the second toe longest in 2.95% of 8,141 men. Romanus thought that long second toe is dominant with reduced penetrance. {1:Beers and Clark (1942)} described a family in which long second toe occurred in 10 persons in 3 generations." +189230,"Judging by the family of a colleague, {1:McKusick (1986)} suggested that space between the great toe and the second toe may be inherited as an irregular autosomal dominant." +189300,"{14:Sturtevant (1940)} described two classes, 'roller' and 'non-roller,' the roller phenotype being dominant. However, {13:Sturtevant (1965)} cited Matlock as finding a high frequency of discordance in monozygotic twins, suggesting little genetic basis for the trait. {7:Hsu (1948)} described the ability to fold up the tip of the tongue as a recessive. {10:Liu and Hsu (1949)} and {9:Lee (1955)} demonstrated independence of the two traits. The cloverleaf tongue (ability to fold the tongue in a particular configuration) may be yet another distinct trait ({17:Whitney, 1950}), inherited probably as a dominant. {4:Gorlin (1982)} observed cloverleaf tongue in a mother and her 2 sons. {2:Cohen (1993)} described mother and daughter with the ability to transform the tongue into a cloverleaf shape. {6:Hirschhorn (1970)} emphasized that ample time for learning must be allowed in doing family studies of tongue gymnastic ability. {11:Martin (1975)} excluded genetic determination by showing that the frequency of concordance is the same in monozygotic and dizygotic twin pairs. In Barcelona, {5:Hernandez (1980)} found the ability to roll the tongue in 63.7% of males and 66.84% of females. In males, an association with ability to move the ears ({129100}) was found." +189490,"Malpositioning, or ectopic placement, of teeth is believed to result from a disturbance of the tooth developmental structure. Various forms of the disorder tend to be associated with one another and with hypodontia. It is important to recognize any associations of tooth anomalies as early diagnosis of developmental disturbance in a single tooth may reveal a potential risk of future position or eruption disturbances of other teeth and thus allow early intervention ({2:Bjerklin et al., 1992})." +189500,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nWitkop syndrome is a rare autosomal dominant ectodermal dysplasia involving the teeth and nails. Although a few reported cases have sparse or fine hair, almost all affected individuals have normal hair, sweat glands, and ability to tolerate heat. Affected individuals have a variable number and variable types of congenitally missing permanent and/or primary teeth, which frequently results in lip eversion due to loss of occlusion in the vertical dimension. Nails are generally thin, slow-growing, brittle, and spoon-shaped (koilonychia). Toenails are usually more severely affected than fingernails. The nail defects are alleviated with age and may not be easily detectable during adulthood (summary by {4:Jumlongras et al., 2001})." +189600,"Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by {2:Engin et al., 1997})." +189700,"Torus palatinus (TP) is a spindle-shaped bony elevation along the midline of the hard palate. Torus mandibularis (TM) is a bony elevation along the mandible generally just below the lower premolars. Both exostoses usually appear in the form of a series of swellings (summary by {6:Suzuki and Sakai, 1960})." +189800,"Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by {40:Payne et al., 2011}).\n\nPreeclampsia is otherwise known as gestational proteinuric hypertension ({16:Davey and MacGillivray, 1988}). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition ({19:Fisher et al., 1981}). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) ({9:Brown et al., 2000}).\n\n<Subhead> Genetic Heterogeneity of Preeclampsia/Eclampsia\n\nSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 ({609402}) on chromosome 2p25, and PEE3 ({609403}) on chromosome 9p13. PEE4 ({609404}) is caused by mutation in the STOX1 gene ({609397}) on chromosome 10q22. PEE5 ({614595}) is caused by mutation in the CORIN gene ({605236}) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene ({132810}) on chromosome 1q." +189961,"{1:Prakash et al. (1989)} described a mother and daughter with tracheopathia osteoplastica, also known as tracheobronchopathia osteochondroplastica. This disorder is characterized by cartilaginous or bony projections into the tracheobronchial lumen, with sparing of the posterior membranous portion of the tracheobronchial tree. Symptoms may, however, include dyspnea, coughing, hemoptysis, hoarseness, and wheezing. Tomography of the trachea may show beaded calcification of the tracheobronchial cartilages. Bronchoscopy is diagnostic. Histologically, the abnormal growths show heterotopic bone formation. The mother recorded by {1:Prakash et al. (1989)} had recurrent episodes of pneumonia attributable to bronchial obstruction by bony projections. In the daughter, removal of large lesions that obstructed the upper part of the trachea relieved dyspnea. No other reports of familial occurrence were found. {1:Prakash et al. (1989)} stated that this abnormality is detected in about 1 in 2,000 bronchoscopies." +190100,"Geniospasm is characterized by spontaneous intermittent involuntary quivering or trembling of the chin that is intensified by stress or anxiety. The movements are first noticed in infancy or childhood and usually abate by late adulthood ({13:Wadlington, 1958}; {1:Danek et al., 1991})." +190200,{1:Feldman et al. (1969)} described 3 persons in 3 successive generations with this combination. Autopsy at age 80 in 1 case showed intracytoplasmic lipofuscin granules in the inferior olivary nuclei and hepatocytes. The affected persons had premature graying. +190300,"Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by {16:Higgins et al., 1997}).\n\n{10:Deng et al. (2007)} provided a detailed review of the genetics of essential tremor.\n\n<Subhead> Genetic Heterogeneity of Essential Tremor\n\nOther forms of hereditary essential tremor include ETM2 ({602134}), mapped to chromosome 2p25-p22; ETM3 ({611456}), mapped to chromosome 6p23; ETM4 ({614782}), caused by mutation in the FUS gene ({137070}) on chromosome 16p11; ETM5 ({616736}), caused by mutation in the TENM4 gene ({610084}) on chromosome 11q14; and ETM6 ({618866}), caused by mutation in the NOTCH2NLC gene ({618025}) on chromosome 1q21." +190320,"Trichodentoosseous syndrome is an autosomal dominant disorder with complete penetrance characterized by abnormalities involving hair, teeth, and bone (summary by {12:Nguyen et al., 2013})." +190330,"Trichomegaly (TCMGLY), or excessively long eyelashes, is a rare familial trait ({4:Higgins et al., 2014})." +190340,"Familial multiple discoid fibromas (FMDF) is an autosomal dominant dermatologic condition characterized by the appearance of multiple skin-colored, firm, flat or dome-shaped papules on the pinnae and the central area of the face in childhood or adolescence. Most lesions show a hair at or just outside the periphery, and many have a telangiectatic surface (summary by {3:Starink et al., 2012}).\n\nTrichodiscoma, as this lesion was first described by {2:Pinkus et al. (1974)}, is a small benign fibrovascular tumor of the dermal part of the hair disc. The hair disc is a richly vascularized dermal pad in close association with a hair. It is supplied by a thick myelinated nerve and is considered to be a slow-adapting mechanoreceptor. Trichodiscomas are small, flat or dome-shaped, skin-colored, firm papules with a telangiectatic surface. Many of the lesions show a hair at the periphery or just outside it. {3:Starink et al. (2012)} renamed the lesion 'discoid fibroma' as a clarification of the histologic findings.\n\nFMDF is similar to, but histologically and genetically distinct from, Birt-Hogg-Dube syndrome (BHD; {135150}), which is characterized by fibrofolliculomas as well as renal and pulmonary cysts." +190345,"Desmoplastic trichoepithelioma is a benign neoplasm with follicular differentiation. It was described as a distinctive clinicopathologic entity by {1,2:Brownstein and Shapiro (1976, 1977)} and {4:MacDonald et al. (1977)}. {1:Brownstein and Shapiro (1976)} described desmoplastic trichoepitheliomas as 'a variant of solitary trichoepithelioma with a distinctive annular configuration and sclerotic consistency clinically.' They predicted that a form of multiple desmoplastic trichoepitheliomas inherited in an autosomal dominant fashion would eventually be discovered. {5:Shapiro and Kopf (1991)} described such a family. Grandmother, daughter, and son were affected. {3:Dervan et al. (1985)} described familial solitary desmoplastic trichoepitheliomas. This disorder is distinct from the inherited syndrome of multiple trichoepitheliomas, also referred to as epithelioma adenoides cysticum of Brooke ({601606})." +190350,"Trichorhinophalangeal syndrome type I (TRPS1) is an autosomal dominant malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature (summary by {25:Momeni et al., 2000})." +190351,"Trichorhinophalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Craniofacial features include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose, protruding ears, long flat philtrum, and thin upper vermillion border. The most typical radiographic findings in TRPS are cone-shaped epiphyses, predominantly at the middle phalanges. Hip malformations such as coxa plana, coxa magna, or coxa vara are present in over 70% of patients. In older patients, the hip abnormalities resemble degenerative arthrosis. TRPS3 differs from TRPS1 by the presence of severe brachydactyly, due to short metacarpals, and severe short stature (summary by {2:Ludecke et al., 2001})." +190360,"{1:Pinheiro and Freire-Maia (1987)} described a distinctive disorder in many members of 6 generations of a family. The disorder combined various degrees of trichodysplasia and xeroderma. Trichodysplasia was a general term they used for all types of hair disturbances from alopecia and hypotrichosis to structural changes such as pili torti and trichorrhexis nodosa. The proband, a 30-year-old man, was healthy but had sparse, coarse, brittle, slow-growing and excessively dry scalp hair. Eyebrows were irregularly sparse and eyelashes were scanty and short. Beard was absent. Axillary and pubic hair was sparse. Scanning electron microscopy of hair showed pili torti, scaling, and dystrophic bulbs. The skin was moderately dry." +190400,"{6:Harris (1936)} observed 9 cases in 3 generations. {1:Allan (1938)} described the condition in a 32-year-old man, his maternal uncle and his maternal grandmother. {2:Argenta (1959)} noted the disorder in 3 sibs, 2 of whom were twins. {3:Auld and Buermann (1965)} observed a family with 6 out of 7 sibs affected; no comment on parental consanguinity was made. I studied a family (K.L., 945011) in which 5 persons in 4 sibships and 3 generations were affected. There were 2 instances of apparent lack of penetrance ('skipped generations'). {7:Herzberg (1980)} reported 4 cases in 3 generations. {8:Kirkpatrick (1989)} described classic trigeminal neuralgia in 3 sisters who had a paternal aunt who may have also been affected." +190410,"Pediatric trigger thumb is caused by a mismatch between the flexor pollicis longus tendon and its sheath. Patients present with a hard, palpable nodule (Notta's node) at the base of the metacarpal and an inability to extend the thumb beyond 30 degrees, which can rarely be accompanied by triggering, snapping, or a digit locked in extension (summary by {2:Wang et al., 2012})." +190420,"{1:Galton et al. (1977)} reported clinical, metabolic and autopsy findings in a 6-year-old microcephalic child with the paradoxical combination of triglyceride storage in peripheral adipose tissue and gross emaciation. The authors found no increase in glycerol or cyclic AMP in peripheral adipose tissue on incubation with isoprenaline and postulated a defect in adenyl cyclase or catecholamine receptor. No information bearing on the genetics was available." +190430,"{1:Galton et al. (1974)} described patients with obesity resulting from a defect in triglyceride breakdown. In the form of triglyceride storage disease they called type II, both the beta-adrenergic receptor and adenyl cyclase were intact as judged by a normal increment in tissue levels of cyclic AMP on treatment with isoprenaline. However, cyclic AMP did not activate triglyceride-lipase with the expected release of glycerol from the tissues. The defect was found in a 60-year-old woman, her daughter and her eldest sister, whereas her nonidentical twin sister and brother responded the same as did obese control subjects. In type I disease ({190420}), noradrenaline poorly stimulated the activity of adenyl cyclase in tissues, suggesting a defect either in the beta-adrenergic receptor or in adenyl cyclase itself. Type III disease is Wolman disease ({278000}). In 2 Nigerian sibs, {2:Galton et al. (1976)} described a different type of triglyceride storage disease manifested by microcephaly, nystagmus, deafness and hepatomegaly in addition to triglyceride deposits in peripheral adipose tissue despite severe malnutrition." +190440,"Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by {1:Frydman et al., 1984}).\n\n<Subhead> Genetic Heterogeneity of Isolated Trigonocephaly\n\nAlso see trigonocephaly-2 (TRIGNO2; {614485}), caused by mutation in the FREM1 gene ({608944}) on chromosome 9p22." +190445,"Thyroid hormone (T3) acts to stimulate the transcription of several genes and to decrease the transcription of others. The thyroid hormone receptor ({190160}) binds with high affinity to a thyroid hormone response element (TRE) in each gene and alters the rate of transcription. Binding of in vitro synthesized thyroid hormone receptor to thyroid hormone response elements is enhanced by the addition of nuclear extracts from several different cell types, suggesting that binding is partially dependent on a T3 receptor auxiliary protein (TRAP). {1:Beebe et al. (1991)} presented experiments prompting them to propose that TRAP forms heterodimers with thyroid hormone receptor on the TRE sequences." +190500,"{1:Ecke (1962)} described triphalangy of the thumb with doubling of the two distal phalanges in a grandfather, son and grandson." +190650,{1:Say et al. (1976)} described a mother and 3 daughters with triphalangeal thumbs and recurrent dislocation of the patellas from birth. They were also short of stature compared with unaffected sibs. See familial recurrent dislocation of patella ({169000}). +190685,"Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21." +190900,"Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity ({8:Weitz et al., 1992})." +191000,"{1:Mead and Martin (1963)} described a black family in which a mother and 4 children had aplasia of the trochlea of the humerus (the part that articulates with the ulna). Three of the children were by one father and one by another. The deformity was bilaterally symmetrical. The patient held the elbows in flexion and the forearms in pronation. The humerus was shortened. A web of soft tissue stretched across the antecubital space. The elbows could not be extended beyond a right angle but could be flexed to about 30 degrees. Pronation was moderately limited; supination was normal. The biceps brachii appeared to be either hypoplastic or absent. One of the affected children had a cleft palate. Whereas the lateral part of the distal humerus including the capitellum was essentially normal, the medial part had no trochlea or medial epicondyle. The ulna was displaced and did not articulate with the humerus. The authors suggested that this is a 'new' mutation both in the sense of having occurred first in the mother and of not having been described previously. Because of the high illegitimacy rate in blacks, new mutation is difficult to defend. It is also rash to suggest the disorder has never been reported. Certainly this must be a very rare anomaly." +191100,"Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by {19:Crino et al., 2006} and {20:Curatolo et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Tuberous Sclerosis\n\nSee also tuberous sclerosis-2 ({613254}), which is caused by mutation in the TSC2 gene ({191092}) on chromosome 16p13.\n\nApproximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease ({19:Crino et al., 2006}) (see GENOTYPE/PHENOTYPE CORRELATIONS section)." +191150,"Tuftsin, which is derived from the heavy chain of human immunoglobulin, is a tetrapeptide (Thr--Lys--Pro--Arg) that stimulates the phagocytic activity of polymorphonuclear leukocytes. (Tuftsin was named for Tufts University where the tetrapeptide was discovered.) It is activated in the spleen and bound to a carrier leukokinin molecule, a gamma-globulin which coats the polymorph. Tuftsin is absent in splenectomized humans and dogs. Its absence after splenectomy leads to problems with infection. Congenital familial deficiency of tuftsin with a history of repeated and severe infections has been observed in at least 4 families ({3:Constantopoulos and Najjar, 1973}; {7:Najjar, 1981}). In each of the 2 families reported by {4:Constantopoulos et al. (1972)}, 1 child had recurrent infections and 1 parent had low tuftsin levels but was asymptomatic. {4:Constantopoulos et al. (1972)} observed affected father and son. In 1 patient, a mutant peptide was identified as Thr-Glu-Pro-Arg, representing a transition mutation (A-to-G) such that AAA or AAG = lysine is converted to GAA or GAG = glutamic acid ({5:Konopinska et al., 1981}). {1:Bump et al. (1986)} isolated the tuftsin receptor. {8:Najjar (1987)} indicated that in all instances only 1 parent of tuftsin-deficient individuals has also been deficient and that in no instances have both parents been normal. It is noteworthy that although this seems to be an autosomal dominant trait, the deficiency is complete. This suggests that allelic exclusion may be operative. Some of the tuftsin deficiency cases, which in Najjar's experience total 20, have been discovered as a result of studying patients with recurrent infections in whom no immune abnormality could be demonstrated, but in whom gamma globulin, administered for lack of anything else to do, resulted in great benefit ({8:Najjar, 1987}). Cases have been reported in Japan. In attempts to produce an antibody against tuftsin for diagnostic use, {6:Naim et al. (1989)} found that tuftsin appears to be nonantigenic to mammals even when coupled to various carrier proteins. Thus, the only reliable analytical assays are physical methods such as RP-HPLC and mass spectrometry." +191160,"Tumor necrosis factor (TNF) is a multifunctional proinflammatory cytokine secreted predominantly by monocytes/macrophages that has effects on lipid metabolism, coagulation, insulin resistance, and endothelial function. TNF was originally identified in mouse serum after injection with Mycobacterium bovis strain bacillus Calmette-Guerin (BCG) and endotoxin. Serum from such animals was cytotoxic or cytostatic to a number of mouse and human transformed cell lines and produced hemorrhagic necrosis and in some instances complete regression of certain transplanted tumors in mice ({91:Shirai et al., 1985}; {79:Pennica et al., 1984})." +191181,"Chromosomally stable intraspecific human cell hybrids derived by the fusion of tumorigenic HeLa cells with normal human cells provided evidence that tumorigenicity is recessive ({23:Stanbridge, 1976}); the hybrids were completely nontumorigenic. After a prolonged passage in culture, rare tumorigenic segregants were isolated, possibly owing to the loss of specific chromosomes that contained tumor suppressor sequences. By cytogenetic analysis of these hybrids, {24:Stanbridge et al. (1981)} showed a correlation between the loss of a single copy each of chromosome 11 and chromosome 14 and the development of the tumorigenic phenotype. {11,10:Klinger (1980, 1982)} confirmed the association between the loss of chromosome 11 and a few other chromosomes and the development of the tumorigenic cells. Use of chromosome-11-specific RFLP probes permitted demonstration that the loss of a single normal chromosome 11 was sufficient for the reexpression of the tumorigenic phenotype ({20:Srivatsan et al., 1986}; {9:Kaelbling and Klinger, 1986}). Furthermore, {19:Saxon et al. (1986)} demonstrated that the introduction of a normal chromosome 11 into a tumorigenic HeLa/fibroblast hybrid cell by the microcell transfer technique suppressed the tumorigenic phenotype. A selection process involving the loss of the introduced chromosome led to the reappearance of the tumorigenic cells. {13:Misra and Srivatsan (1989)} demonstrated that tumorigenicity was regained with the loss of region 11q13-q23. By RFLP analysis, {22:Srivatsan et al. (1991)} found somatic loss of chromosome 11 heterozygosity in 10 of 33 primary cervical carcinomas (see {603956}). In addition, at least 8-fold amplification of sequences was observed in one of the primary tumors in the q13 region, including sequences coding for the fibroblast growth factor-related gene INT2 ({164950}).\n\nPursuing the functional studies showing that human chromosome 11 contains a gene or genes capable of suppressing tumorigenicity in cell lines derived from different histopathologic types of cervical carcinoma, {5:Hampton et al. (1994)} carried out a systematic analysis of chromosome 11 in primary tumors of 32 patients with cervical carcinoma. To identify the likely chromosomal position of the relevant gene or genes, they used 16 highly polymorphic markers to compare matched DNA samples from noninvolved tissue and portions of tumor tissue highly enriched for neoplastic cells. Of the 32 patients examined, 14 (44%) demonstrated clonal genetic alterations resulting in loss of heterozygosity for 1 or more markers. From the fact that 7 of the clonal genetic alterations on chromosome 11 were specific to the long arm and by the overlap between these and other allelic deletions, {5:Hampton et al. (1994)} concluded that at least one suppressor gene relevant to cervical carcinoma maps to 11q22-q24.\n\nTo determine whether 11q13 rearrangement is a nonrandom event in cervical carcinomas, {7:Jesudasan et al. (1995)} studied 6 different human papilloma virus (HPV)-positive cell lines (including HeLa and Caski) and 2 different HPV-negative cell lines. Long-range restriction mapping using a number of 11q13-specific probes showed molecular rearrangements within 75-kb of an INT2 probe in 3 HPV-positive cell lines and in an HPV-negative cell line. By fluorescence in situ hybridization using an INT2 YAC, {7:Jesudasan et al. (1995)} identified a breakpoint within the sequences spanned by this YAC in HeLa and Caski cells.\n\nSeveral cytogenetic and molecular genetic studies had shown that a HeLa cell line contains 2 apparently normal copies of chromosome 11 and additional 11q13-q25 material translocated onto a chromosome 3 marker. To determine the 11q13 breakpoint, {21:Srivatsan et al. (2000)} performed fluorescence in situ hybridization using 18 different 11q13-specific BACs and cosmid probes spanning a 5.6-Mb interval. FISH identified an interstitial deletion between marker D11S449 and GSTP1 ({134660}), an interval of 2.3 Mb, in the marker chromosome. This deletion did not include the MEN1 gene ({613733}). SSCP did not reveal mutations of the MEN1 gene in HeLa or in 7 other cervical cancer cell lines. Because deletions of tumor suppressor genes often occur in cancer progression, {21:Srivatsan et al. (2000)} hypothesized that the inactivation of a tumor suppressor gene other than MEN1, localized to the 2.3-Mb interval on 11q13, may play a role in the abnormal growth behavior of HeLa cells in vitro and in vivo." +191200,"Tune deafness, or congenital amusia, is a lifelong deficient in music perception that cannot be explained by hearing loss, brain damage, intellectual deficiencies, or lack of exposure. The disorder affects predominantly the melodic pitch dimension (summary by {5:Peretz et al., 2009}).\n\nSee {159300} for an opposite situation, that of musical perfect pitch." +191250,"Superfetation occurs as a result of continuing ovulation and implantation after the initiation of another pregnancy. This rare phenomenon, leading to an unusual form of fraternal twinning, was reported as an autosomal dominant trait by {3:Rhine and Nance (1976)}. The gene is transmitted by males as well as females, suggesting that it is primarily expressed at the level of the placenta rather than at the level of the mother's hypothalamus or the ovary. By some mechanism, the placenta, under the influence of a dominant gene, permits further ovulation and implantation. In the family reported by {3:Rhine and Nance (1976)}, all the twin pairs showed marked discordance in birth weight and gestational age. In 5 of the 6 pairs, 1 twin was normal while the other was either a macerated fetal mass or a stillbirth, or died of prematurity in the neonatal period. The single twin pair that survived was dizygotic and showed a 21% discrepancy in body weight. {2:Nance et al. (1978)} pictured the pedigree of an Italian kindred with 9 sets of twins in 4 generations. {1:Nance (1986)} knew of additional families." +191270,"As indicated in {606933}, in the mapping of the tyrosinase locus with a cDNA probe in somatic cell and in situ hybridization, {1:Barton et al. (1988)} identified a second site of tyrosinase-related sequences in the region 11p11.2-cen. The primary locus is on 11q14-q21. The functional significance of the second sequence is unknown. {2:Giebel et al. (1991)} demonstrated that whereas the tyrosinase gene contains 5 exons, the tyrosinase-like, or tyrosinase-related, 'gene' contains only exons 4 and 5 plus adjacent noncoding regions. The tyrosinase-related segment was found in all human ethnic groups analyzed, and the noncoding nucleotide sequences shared by the 11q tyrosinase gene and the 11p tyrosinase-related segment differed by only 2.6%. This suggested to {2:Giebel et al. (1991)} that the 11p segment was duplicated approximately 24 million years ago." +191390,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease and ulcerative colitis, see IBD1 ({266600})." +191420,"In a kindred originating in Sardinia, {2:Rosenberg and Lohr (1986)} found many cases of a seemingly 'new' autosomal dominant syndrome. They studied a father and 2 sons in detail. Common to all affected members of the family was thickening of the wrists proximal to the styloid process of the ulna. Dyschondrosteosis ({127300}) was first considered in the differential diagnosis. The proband was the older son who presented at the age of 14.5 years with severe pain in the wrists occurring mainly during and after judo training. Other affected members had no pain. Radiologically recognizable changes, in the form of noncalcified cartilaginous islands protruding like cones into the metaphysis, began with the onset of puberty. Thickening ('roofing') of the dorsum sellae was observed in all 3 patients. ({3:Strand and Green (1974)} observed this change with spondylometaphyseal dysplasia.) The significance of a 'slightly elevated' serum calcium level was not clear. The metatarsals, metacarpals and distal fibula were dysplastic to variable degrees; the distal ulna showed the most striking changes. The 2 sons had coxa valga. Skeletal development was delayed. An abnormality of the vertebral column was also suggested.\n\n{1:Lee et al. (2003)} described an 8-year-old boy with a distinctive form of metaphyseal chondrodysplasia closely resembling Rosenberg type metaphyseal chondrodysplasia. He presented with moderate to disproportionate short stature and bony swelling of his wrists, knees, and ankles. There were severe metaphyseal abnormalities with a honeycomb appearance affecting the distal tibiae and fibulae, proximal tibiae, distal femurs, distal ulnae and radii, and both hands. His thoracolumbar spine was normal. Radiologic examination of the mother's forearms revealed widening of the distal radii and short ulnae with hypoplastic distal ends." +191480,"Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by {14:U. Basmanav et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Uncombable Hair Syndrome\n\nSee UHS2 ({617251}), caused by mutation in the TGM3 gene ({600238}) on chromosome 20p12, and UHS3 ({617252}), caused by mutation in the TCHH gene ({190370}) on chromosome 1q21." +191500,"Hypersegmentation of the nuclei of neutrophils was known in rabbits as a genetic trait before the description in man by {5:Undritz (1954)}. {4:Undritz (1958)} observed a possible instance of homozygosity in an offspring of 2 affected parents. Hypersegmentation was extreme. {1:Barbier (1958)} observed the anomaly in 3 generations of a family. One patient developed hypersegmentation of the nuclei of lymphocytes, monocytes and plasma cells during a bout of Henoch-Schoenlein purpura. {5:Undritz (1954)} also described hypersegmentation of the eosinophils, a genetic trait possibly distinct from hypersegmentation of the neutrophils. He observed the trait in otherwise normal mother and daughter. Inherited variations in leukocytes were usefully reviewed by {3:Davidson (1961)}." +191520,"In 5 sibships and 3 generations of a family originating from Upington district of the Cape Province, South Africa, {1:Schweitzer et al. (1971)} described a new 'dyschondroplasia' in which father-son transmission was noted. The features were Perthes-like hip changes, enchondromata and ecchondromata. Some similarities to Ollier disease and Maffucci disease were noted. The latter two conditions are, however, not mendelian." +191530,{1:Alvsaker (1968)} studied plasma levels of the urate-binding alpha 1-alpha 2-globulin in 19 persons from 2 gouty kindreds. Reduced binding capacity (13-30% of the mean value in healthy unrelated controls) was found in all cases of gout as well as in 6 apparently healthy members of 1 of the kindreds. Autosomal dominant inheritance was suggested by the pedigree pattern. Male-to-male transmission was noted. +191600,{1:Burkland and Juzek (1966)} reported cancer of the right ureter in mother and son. +191650,Ureterocele is a cystic dilatation of the intravesical portion of the bladder. Its occurrence was reported in dizygotic twins by {2:Ayalon et al. (1979)} and in monozygotic twins by {4:Riba (1936)}. {1:Abrams et al. (1980)} observed the malformation in teenage brothers. In the family reported by {2:Ayalon et al. (1979)} the parents were first cousins and the father as well as a sister had double collecting systems on intravenous pyelography. {3:DeWeerd and Feeney (1967)} reported affected mother and daughter. +191700,"{1:De Vries et al. (1962)} presented evidence, based on 3 extensively studied families, that uric acid urolithiasis can be inherited as an autosomal dominant trait independent of gout. In these families no gout or hyperuricemia was found. Cases of this type had rather long been recognized and had been referred to by Henneman as 'idiopathic uric acid stone formers.' The familial nature had apparently not been recognized previously. Recognition of the disorder as familial may be important to its prevention. Oral alkalinization and high fluid intake will often dissolve stones already formed and can be depended on to prevent stone formation. {2:Henneman et al. (1962)} suggested that elderly Italian or Jewish patients are most likely to get into trouble with uric acid stones despite normal serum and urine concentrations of uric acid. Constant acidity of the urine and low ammonium excretion may be involved in pathogenesis." +191800,"Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT (congenital anomalies of the kidney and urinary tract) is an autosomal recessive neurogenic disorder with onset in utero or early childhood. Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension (summary by {2:Mann et al., 2019})." +191830,"Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; {610805}), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by {11:Joss et al., 2003}; {10:Humbert et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Renal Hypodysplasia/Aplasia\n\nSee also RHDA2 ({615721}), caused by mutation in the FGF20 gene ({605558}) on chromosome 8p22; RHDA3 ({617805}), caused by mutation in the GREB1L gene ({617782}) on chromosome 18q11; and RHDA4 ({619887}), caused by mutation in the GFRA1 gene ({601496}) on chromosome 10q25." +191850,{2:Shelley and Rawnsley (1964)} described urticaria on contact with water. Heat or cold had no effect. {1:Bonnetblanc et al. (1979)} reported aquagenic urticaria in a woman and her paternal aunt. +191900,"Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis ({4:Dode et al., 2002}).\n\nSee also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; {120100}), an allelic disorder with overlapping clinical features." +191950,"{1:Michaelsson and Ros (1971)} described a delayed heat urticaria, limited to the area of contact, in a 48-year-old female, 2 of her 3 children, 1 of her 2 sisters, and 4 of the latter's 5 children. Repeated heat exposure showed a decrease in response. Local pretreatment with lidocaine completely inhibited whealing. Oral antihistamines lessened the urticarial response. A higher percentage of basophils were degranulated in vitro in the experimental subject than in the controls. Acetylcholine as an allergen was postulated." +192000,"{2:Holmes (1956)} reported a mother with uterus arcuatus who delivered a stillborn female in whom uterus bicornis unicollis was demonstrated at autopsy. Similar uterine anomalies were described in mother and daughter by {5:Stevenson et al. (1959)} and in sisters by {1:Drescher (1966)} and {3:Nykiforuk (1938)}. {4:Polishuk and Ron (1974)} described 3 families, each with at least 2 sisters with marked uterine anomaly. One of these families was the first reported instance of familial double uterus." +192050,{1:Wiersma et al. (1976)} reported mother and daughter with this combination. The uterus is double with two cervices. A partial vaginal septum obstructs one cervix which empties into a blind sac. +192100,The uvula is split into two lobes by a central fissure. {1:Meskin et al. (1965)} reported that about 1% of Caucasians and 10% of American Indians and Japanese show the trait in some degree. The frequency in sibs and parents of affected persons is said to be about 18%. +192300,"In Liverpool, England, {1:Malpas and Symonds (1966)} found that of 652 umbilical cords, the helix was right-handed in 133 and left-handed in 519. Although a genetic basis for the difference was suggested, family data are yet to be collected." +192315,"Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS) is an adult-onset autosomal dominant disorder involving the microvessels of the brain and resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline. Death occurs in most patients 5 to 10 years after onset. A subset of affected individuals have systemic vascular involvement evidenced by Raynaud phenomenon, micronodular cirrhosis, and glomerular dysfunction (summary by {8:Richards et al., 2007})." +192350,"VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by {13:Quan and Smith (1972)}. Nearly all cases have been sporadic.\n\nVACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity ({9:Khoury et al., 1983}).\n\nAlso see VATER/VACTERL association with hydrocephalus (VACTERL-H; {276950}) and VACTERL with or without hydrocephalus (VACTERLX; {314390})." +192400,"{1:Spuhler (1950)} found two alternative patterns. (1) In the transverse type, the superficial veins radiate laterally from the pectoral venous plexus toward the axillary region. (2) In the longitudinal type, the veins radiate in a fan-like pattern downward and laterally from the point where the anterior jugular vein turns beneath the sternocleidomastoid muscle. In a study in the Navajo Indians, the transverse pattern appeared to behave as a dominant." +192500,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({32:Jongbloed et al., 1999}).\n\nA form of torsade de pointes in which the first beat has a short coupling interval has been described ({613600}).\n\n<Subhead> Genetic Heterogeneity of Long QT Syndrome\n\nOther forms of LQT syndrome (LQTS) are LQT2 ({613688}), caused by mutation in the KCNH2 gene ({152427}); LQT3 ({603830}), caused by mutation in the SCN5A gene ({600163}); LQT4 (see {600919}), caused by mutation in the ANK2 gene ({106410}); LQT5 ({613695}), caused by mutation in the KCNE1 gene ({176261}); LQT6 ({613693}), caused by mutation in the KCNE2 gene ({603796}); LQT7 (Andersen cardiodysrhythmic periodic paralysis, {170390}), caused by mutation in the KCNJ2 gene ({600681}); LQT8 ({618447}), caused by mutation in the CACNA1C gene ({114205}); LQT9 ({611818}), caused by mutation in the CAV3 gene ({601253}); LQT10 ({611819}), caused by mutation in the SCN4B gene ({608256}); LQT11 ({611820}), caused by mutation in the AKAP9 gene ({604001}); LQT12 ({612955}), caused by mutation in the SNTA1 gene ({601017}); LQT13 ({613485}), caused by mutation in the KCNJ5 gene ({600734}); LQT14 ({616247}), caused by mutation in the CALM1 gene ({114180}), LQT15 ({616249}), caused by mutation in the CALM2 gene ({114182}); and LQT16 ({618782}), caused by mutation in the CALM3 gene ({114183}).\n\nApproximately 10% of LQTS patients in whom a mutation is identified in one ion channel gene carry a second mutation in the same gene or in another ion channel gene ({71:Tester et al., 2005}).\n\n<Subhead> Reviews\n\n{21:Giudicessi and Ackerman (2016)} reviewed the role of Ca(2+) cycling in cardiac repolarization and in the pathogenesis of long QT-associated cardiac arrhythmias." +192600,"Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. {72:Seidman (2000)} reviewed studies of hypertrophic cardiomyopathy in man and mouse.\n\n<Subhead> Genetic Heterogeneity of Hypertrophic Cardiomyopathy\n\nAdditional forms of hypertrophic cardiomyopathy include CMH2 ({115195}), caused by mutation in the TNNT2 gene ({191045}) on chromosome 1q32; CMH3 ({115196}), caused by mutation in the TPM1 gene ({191010}) on chromosome 15q22; CMH4 ({115197}), caused by mutation in the MYBPC3 gene ({600958}) on chromosome 11p11; CMH6 ({600858}), caused by mutation in the PRKAG2 gene ({602743}) on chromosome 7q36; CMH7 ({613690}), caused by mutation in the TNNI3 gene ({191044}) on chromosome 19q13; CMH8 ({608751}), caused by mutation in the MYL3 gene ({160790}) on chromosome 3p21; CMH9 ({613765}), caused by mutation in the TTN gene ({188840}) on chromosome 2q31; CMH10 ({608758}), caused by mutation in the MYL2 gene ({160781}) on chromosome 12q24; CMH11 ({612098}), caused by mutation in the ACTC1 gene ({102540}) on chromosome 15q14; CMH12 ({612124}), caused by mutation in the CSRP3 gene ({600824}) on chromosome 11p15; CMH13 ({613243}), caused by mutation in the TNNC1 gene ({191040}) on chromosome 3p21; CMH14 ({613251}), caused by mutation in the MYH6 gene ({160710}) on chromosome 14q12; CMH15 ({613255}), caused by mutation in the VCL gene ({193065}) on chromosome 10q22; CMH16 ({613838}), caused by mutation in the MYOZ2 gene ({605602}) on chromosome 4q26; CMH17 ({613873}), caused by mutation in the JPH2 gene ({605267}) on chromosome 20q12; CMH18 ({613874}), caused by mutation in the PLN gene ({172405}) on chromosome 6q22; CMH20 ({613876}), caused by mutation in the NEXN gene ({613121}) on chromosome 1p31; CMH21 ({614676}), mapped to chromosome 7p12.1-q21; CMH22 (see {615248}), caused by mutation in the MYPN gene ({608517}) on chromosome 10q21; CMH23 (see {612158}), caused by mutation in the ACTN2 gene ({102573}) on chromosome 1q43; CMH24 (see {601493}), caused by mutation in the LDB3 gene ({605906}) on chromosome 10q23; CMH25 ({607487}), caused by mutation in the TCAP gene ({604488}) on chromosome 17q12; CMH26 ({617047}), caused by mutation in the FLNC gene ({102565}) on chromosome 7q32; CMH27 ({618052}), caused by mutation in the ALPK3 gene ({617608}) on chromosome 15q25; and CMH28 ({619402}), caused by mutation in the FHOD3 gene ({609691}) on chromosome 18q12.\n\nThe CMH5 designation was initially assigned to a CMH family showing genetic heterogeneity. Subsequently, affected individuals were found to carry mutations in the MYH7 (CMH1) and/or MYBPC3 (CMH4) genes.\n\nMutations in the CALR3 gene ({611414}), previously suggested to cause a form of CMH ({12:Chiu et al., 2007}) designated CMH19, were convincingly shown not to be a monogenic cause of cardiomyopathy by {85:Verhagen et al. (2018)}; see {611414.0001}.\n\nHypertrophic cardiomyopathy has also been associated with mutation in the gene encoding cardiac myosin light-peptide kinase (MYLK2; see {606566.0001}), which resides on chromosome 20q13.3; the gene encoding caveolin-3 (CAV3; see {601253.0013}), which maps to chromosome 3p25; and with mutations in genes encoding mitochondrial tRNAs: see mitochondrial tRNA-glycine (MTTG; {590035}) and mitochondrial tRNA-isoleucine (MTTI; {590045})." +192700,"{1:Seijffers et al. (1964)} described what they termed systemic venular insufficiency in a 40-year-old Ashkenazi Jew. Marked cyanosis and swelling of the head and neck followed bending over and the hands and feet were similarly affected when in the dependent position. Small veins and venules in conjunctiva showed marked dilation. Erection did not occur but could be induced by manual compression of the root of the penis. The authors suggested a venous defect, either absence of valves or absence of smooth muscle in the walls of small veins. The parents were first cousins and the father may have had the same disorder in milder form. Thus, the possibility of either recessive or dominant inheritance could be entertained." +192800,{1:Faulk et al. (1970)} described a mother and 2 daughters with congenital ptosis and posterior fusion of lumbosacral vertebrae. The mother's mother had ptosis and 'had never been able to place her feet flat on the floor' because of 'tightness of the heel cords.' Serum lactic dehydrogenase activity was elevated in the mother and 1 daughter studied. +192950,"Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by {5:Levinsohn et al., 2004}). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by {1:Dobbs et al., 2006})." +193000,"Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by {16:Lu et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Vesicoureteral Reflux\n\nA locus designated VUR1 maps to chromosome 1p13. VUR2 ({610878}) is caused by mutation in the ROBO2 gene ({602431}) on chromosome 3p12; VUR3 ({613674}) is caused by mutation in the SOX17 gene ({610928}) on chromosome 8q11; VUR4 ({614317}) maps to chromosome 5; VUR5 ({614318}) maps to chromosome 13; VUR6 ({614319}) maps to chromosome 18; VUR7 ({615390}) maps to chromosome 12; and VUR8 ({615963}) is caused by mutation in the TNXB gene ({600985}) on chromosome 6p21. A possible X-linked form has been reported (VURX; {314550})." +193003,"Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' ({4:Tarpey et al., 2006}; {3:Shiels et al., 2007}).\n\nFor a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 ({310700})." +193005,{2:Verhagen et al. (1988)} described a family with vestibular areflexia and progressive hearing loss developing from the age of about 40 years onward and displaying a pattern of autosomal dominant inheritance. {1:Verhagen and Huygen (1991)} reported the same disorder in a member of the family previously thought to be unaffected at the age of 42 years. At the age of 47 years she showed progressive hearing loss and left-sided tinnitus as well as head movement-dependent oscillopsia and instability in the dark. +193007,"Benign recurrent vertigo (BRV), also known as benign paroxysmal positional vertigo (BPPV), is a common disorder affecting up to 2% of the adult population. The majority of individuals with chronic recurrent vertigo have no identifiable cause, no progression of the disorder, and no other neurologic or auditory signs. Many families have multiple affected individuals, suggesting familial transmission of the disorder with moderate to high penetrance (summary by {7:Lee et al., 2006})." +193070,"From in situ hybridization studies, {1:Price et al. (1973)} suggested that a D-group chromosome contains on its long arm DNA complementary to the RNA of the oncogenic virus RD114." +193100,"Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH; {307800}), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases ({5:Econs et al., 1997}).\n\nSee also hypophosphatemic bone disease ({146350}).\n\n<Subhead> Genetic Heterogeneity of Hypophosphatemic Rickets\n\nOther forms of hypophosphatemic rickets include autosomal recessive forms, i.e., ARHR1 ({241520}), caused by mutation in the DMP1 gene ({600980}) on chromosome 4q21, and ARHR2 ({613312}), caused by mutation in the ENPP1 gene ({173335}) on chromosome 6q23. An X-linked dominant form (XLHR; {307800}) is caused by mutation in the PHEX gene ({300550}), and an X-linked recessive form ({300554}) is caused by mutation in the CLCN5 gene ({300008}).\n\n<Subhead> Clinical Variability of Hypophosphatemic Rickets\n\nHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH; {241530}) is caused by mutation in the SLC34A3 gene ({609826}), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism ({612089}) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO; {604824})." +193200,"For a phenotypic description and a discussion of genetic heterogeneity of vitiligo susceptibility, see VAMAS1 ({606579})." +193235,"Autosomal dominant neovascular inflammatory vitreoretinopathy is a blinding disorder that shares some clinical features with retinitis pigmentosa (see {268000}), uveitis, and proliferative diabetic retinopathy (see {603933}). Features include prominent ocular inflammation; vascular dropout, large spots of hyperpigmentation, and neovascularization of the peripheral and posterior retina; vitreous hemorrhage; and retinal detachment (summary by {5:Sheffield et al., 1992})." +193240,"{1:Tucker (1983)} described a man with bilateral ptosis of the eyelids and bilateral recurrent laryngeal nerve paralysis dating from birth. His daughter was born with the same combination of abnormalities. This may be different from either laryngeal abductor paralysis ({150260}, {308850}) or laryngeal adductor paralysis ({150270}), assuming that the association of ptosis is more than coincidence." +193300,"Von Hippel-Lindau syndrome (VHLS) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.\n\n{90:Neumann and Wiestler (1991)} classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). {6:Brauch et al. (1995)} further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). {51:Hoffman et al. (2001)} noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. {88:McNeill et al. (2009)} proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10; {611183}) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B.\n\n{92:Nordstrom-O'Brien et al. (2010)} provided a review of the genetics of von Hippel-Lindau disease." +193400,"Von Willebrand disease is the most common inherited bleeding disorder. It is characterized clinically by mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. The disorder results from a defect in platelet aggregation due to defects in the von Willebrand factor protein. Von Willebrand factor is a large, multimeric protein that plays a role in platelet adhesion and also serves as a carrier for the thrombotic protein factor VIII (F8; {300841}). F8 is mutated in hemophilia A (summary by {32:Goodeve, 2010}).\n\nFor a review of the various forms of von Willebrand disease, see {51:Leebeek and Eikenboom (2016)}.\n\n<Subhead> Classification of von Willebrand Disease\n\nThe classification of von Willebrand disease has a long and complex history. The current classification is based on that described by {85:Sadler (1994)} and updated by {83:Sadler et al. (2006)}, which delineates 3 main subtypes according to the mutant protein phenotype. An earlier classification developed by a working party of the European Thrombosis Research Organization was provided by {103:Zimmerman and Ruggeri (1983)}.\n\nVon Willebrand Disease Type 1\n\nVWD type 1 is a quantitative partial deficiency of circulating VWF. In this type of VWD, there is a normal ratio of functional VWF activity (VWF:RCo, ristocetin cofactor activity) relative to VWF antigen level (VWF:Ag) ({83:Sadler et al., 2006}, {32:Goodeve, 2010}). {59:Mannucci (2004)} stated that type 1 VWD accounts for 60 to 80% of all VWD cases and is characterized by mild to moderate quantitative deficiencies of VWF and factor VIII, which are coordinately reduced to 5 to 30% of normal plasma levels (pathogenic levels of 5 to 30 IU/dL). In an updated consensus statement, {83:Sadler et al. (2006)} noted that (1) some cases of VWF type 1 may have subtle abnormal VWF multimer patterns, but still retain normal functional activity, and (2) that loci other than VWF may be responsible for some cases of VWD.\n\nIn reviews, {48:James and Lillicrap (2008)} and {55:Lillicrap (2009)} stated that the knowledge of the pathogenesis and molecular basis of type 1 VWD is still in its infancy and still evolving. Population studies have indicated that type 1 VWD is a complex genetic trait associated with a variety of genetic and environmental factors, and that additional loci in addition to VWF are likely involved. There is still uncertainty about the pathogenicity of many identified putative VWF variants, and the incomplete penetrance and variable expressivity of type 1 disease contributes to complexity in diagnosis and understanding of disease pathogenesis.\n\nVon Willebrand Disease Type 2\n\nVWD type 2 ({613554}), which accounts for 10 to 30% of cases, is characterized by qualitative abnormalities of VWF; it is further divided into subtypes 2A, 2B, 2M, and 2N. The mutant VWF protein in types 2A, 2B, and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind F8 ({59:Mannucci, 2004}; {83:Sadler et al., 2006}; {32:Goodeve, 2010}).\n\nVon Willebrand Disease Type 3\n\nVWD type 3 ({277480}), which accounts for 1 to 5% of cases, is characterized by a severe quantitative defect of VWF in plasma (less than 1% of normal plasma levels), with low but usually detectable levels of factor VIII (1 to 10% of normal plasma levels). In the rare type 3 disease (1 in 1 million people), symptoms are more frequent and severe ({59:Mannucci, 2004}, {83:Sadler et al., 2006})." +193450,"{1:Chang (1976)} described a family in which a mother and all 4 of her daughters suffered from vulvovaginal reactions to seminal fluid. Stinging, burning and pain in the vagina developed during coitus or immediately after ejaculation and persisted for 2 to 72 hours. The vagina and vulva became red and swollen, with urticaria on the labia. Skin tests showed a positive reaction to seminal fluid in 2 of 3 women tested. No sperm-agglutinating antibody was detected, suggesting that the reaction is to components of semen other than sperm. Benadryl (diphenhydramine) was effective therapy." +193500,"Waardenburg syndrome type 1 (WS1) is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi (reviews by {50:Read and Newton, 1997}, {55:Tamayo et al., 2008}, and {47:Pingault et al., 2010}).\n\n<Subhead> Clinical Variability of Waardenburg Syndrome Types 1-4\n\nWaardenburg syndrome is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia irides and brilliant blue eyes; and congenital sensorineural hearing loss. Waardenburg syndrome has been classified into 4 main phenotypes. WS type 1 is distinguished by the presence of dystopia canthorum. WS type 2 (WS2; see {193510}) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3; {148820}) has dystopia canthorum and upper limb abnormalities. WS type 4 (WS4; see {277580}), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by {50:Read and Newton, 1997} and {55:Tamayo et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of All Types of Waardenburg Syndrome\n\nWaardenburg syndrome is genetically heterogeneous. WS1 and WS3 are both caused by mutation in the PAX3 gene. See WS2A ({193510}) for a discussion of genetic heterogeneity of WS type 2, and WS4A ({277580}) for a discussion of genetic heterogeneity of WS type 4." +193510,"Waardenburg syndrome type 2 (WS2) is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by {18:Read and Newton, 1997} and {17:Pingault et al., 2010}).\n\n<Subhead> Clinical Variability of Waardenburg Syndrome Types 1-4\n\nWaardenburg syndrome has been classified into 4 main phenotypes. Waardenburg syndrome type 1 (WS1; {193500}) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type 2 (WS2) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3; {148820}) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 (WS4; {277580}), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by {18:Read and Newton, 1997} and {17:Pingault et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Waardenburg Syndrome Type 2\n\nWaardenburg syndrome type 2 is a genetically heterogeneous disorder. WS2B ({600193}) has been mapped to chromosome 1p. WS2C ({606662}) has been mapped to chromosome 8p23. WS2D ({608890}) is caused by mutation in the SNAI2 gene ({602150}) on chromosome 8q11. WS2E ({611584}) is caused by mutation in the SOX10 gene ({602229}) on chromosome 22q13. WS2F ({619947}) is caused by mutation in the KITLG gene ({184745}) on chromosome 12q21." +193520,"Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability ({9:Watson, 1967}), and short stature ({3:Partington et al., 1985}). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma ({2:Allanson et al., 1991})." +193530,"Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by {4:Howard et al., 1997})." +193670,"WHIM syndrome-1 (WHIMS1) is an autosomal dominant immunologic disorder characterized by neutropenia, hypogammaglobulinemia, and warts due to human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions (summary by {5:Hernandez et al., 2003}).\n\n{6:Heusinkveld et al. (2019)} provided a detailed review of the clinical features, proposed pathogenesis, and possible therapeutic treatments of WHIM syndrome. There is significant phenotypic variation among patients, such that some individuals may have an 'incomplete' form of the disorder in which one or more of the classic tetrad features are not present. In general, the WHIMS phenotype comprises a spectrum of manifestations with variable expressivity. The pathogenesis of WHIMS1 is postulated to result from impaired CXCL12 ({600835})-induced internalization of CXCR4, resulting in prolonged receptor presence at the cell surface that likely contributes to amplification of signaling with a gain-of-function effect.\n\n<Subhead> Genetic Heterogeneity of WHIM Syndrome\n\nSee also WHIMS2 ({619407}), caused by mutation in the CXCR2 gene ({146928}) on chromosome 2q35." +193700,"Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by {4:Bamshad et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 ({108120})." +193900,"White sponge nevus is a rare autosomal dominant disorder of noncornifying squamous epithelial differentiation that presents clinically as white, soft, thick plaques of the oral mucosa. Less frequently, the mucous membranes of the nose, esophagus, genitalia, and rectum are involved. Histopathologic features, including epithelial thickening, parakeratosis, extensive vacuolization of the suprabasal keratinocytes, and compact aggregates of keratin intermediate filaments in the upper spinus layers resemble those found in epidermal disorders shown to be associated with keratin defects (summary by {6:Richard et al., 1995}).\n\n<Subhead> Genetic Heterogeneity of White Sponge Nevus\n\nWhite sponge nevus-2 (WSN2; {615785}) is caused by mutation in the KRT13 gene ({148065}) on chromosome 17q21." +194000,"A pointed frontal hairline may be inherited as a dominant. For picture see page 359 of {3:Winchester (1958)}. {2:Smith and Cohen (1973)} pointed out an association between ocular hypertelorism and widow's peak.\n\nWidow's peak occurs also in Aarskog syndrome ({305400}; {1:Berman et al., 1974}) and in the simulating faciodigitogenital syndrome ({227330}). It has also been described in Opitz-Frias syndrome ({145410}), in the Waardenburg syndrome ({193500}), in frontonasal dysplasia ({136760}), and in craniofrontonasal dysplasia ({304110}). The occurrence of widow's peak in some of these disorders may be developmentally related to the occurrence of hypertelorism, as was pointed out by {2:Smith and Cohen (1973)}." +194050,"Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. {113:Pober (2010)} reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management.\n\nSee also the distal chromosome 7q11.23 deletion syndrome ({613729}), which occurs between the WBS region and the MAGI2 gene ({606382})." +194070,"Wilms tumor is the most common renal tumor of childhood, occurring with an incidence of 1 in 10,000 and with a median age of diagnosis between 3 and 4 years of age. Wilms tumors are thought to develop from abnormally persistent embryonal cells within nephrogenic rests. Histologically, Wilms tumor mirrors the development of the normal kidney and classically consists of 3 cell types: blastema, epithelia, and stroma (summary by {90:Slade et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Wilms Tumor\n\nSusceptibility to Wilms tumor is genetically heterogeneous. WT2 ({194071}) is caused by mutation in the H19/IGF2-imprinting control region (ICR1; {616186}) on chromosome 11p15. WT3 ({194090}) represents a locus mapped to chromosome 16q. WT4 ({601363}) represents a locus mapped to chromosome 17q12-q21. WT5 ({601583}) is caused by mutation in the POU6F2 gene ({609062}) on chromosome 7p14. WT6 ({616806}) is caused by mutation in the REST gene ({600571}) on chromosome 4q12.\n\nMutations in the BRCA2 gene ({600185}) have also been reported in Wilms tumor. Rare somatic and constitutional disruption of the HACE1 gene ({610876}) has also been reported in Wilms tumor.\n\nSomatic mutations in the glypican-3 gene (GPC3; {300037}) have been described in Wilms tumor. Somatic mutations in the WTX gene ({300647}) on the single X allele in tumors from males and on the active X allele in tumors from females have also been described." +194090,"For a general phenotypic description and a discussion of genetic heterogeneity of Wilms tumor, see WT1 ({194070})." +194190,"Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder ({5:Battaglia et al., 2008})." +194300,"Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends. WH can appear as part of several syndromes, such as Naxos disease ({601214}) and cardiofaciocutaneous syndrome ({115150}) (summary by {7:Petukhova et al., 2009}).\n\nSee {278150} for a discussion of genetic heterogeneity of autosomal recessive woolly hair." +194320,"{1:Beutler et al. (1980)} described a woman and all of her 3 children with a small population of markedly distorted red blood cells resembling keratocytes. Red cell life span was normal, and the severely deformed cells appeared to represent the senescent population. The trait appeared to be benign. The mother's ancestors came from England; the father, whose surname was assigned to the trait, was of Ukrainian extraction. The proband was one of the sons, aged 13 years, whose blood had been studied because of his apparent lack of stamina, particularly when playing ice hockey." +194370,"After studying 5 diploid fibroblast strains from patients with deletions in the long arm of chromosome 13, {1:Nove et al. (1979)} suggested that a region on 13q14, distinct from but close to the retinoblastoma gene, is related to increased sensitivity to cell killing in vitro by x-rays. It should be noted that ataxia-telangiectasia cells show increased sensitivity to x-ray and that this disorder is often associated with a change in the long arm of chromosome 14, not 13." +194380,"Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by {42:Zarychanski et al., 2012}). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by {1:Albuisson et al., 2013}).\n\nDehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria ({38:Tiffert et al., 2005}). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).\n\nThe 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by {17:Iolascon et al., 1999}).\n\n{7:Carella et al. (2004)} noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. {12:Gore et al. (2004)} stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree.\n\n<Subhead> Genetic Heterogeneity of Hereditary Stomatocytosis\n\nDehydrated hereditary stomatocytosis-2 (DHS2; {616689}) is caused by mutation in the KCNN4 gene ({602754}) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2; {609153}), is caused by mutation in the ABCB6 gene ({605452}) on chromosome 2q35. Cryohydrocytosis (CHC; {185020}) is caused by mutation in the SLC4A1 gene ({109270}) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN; {608885}) is caused by mutation in the SLC2A1 gene ({138140}) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST; {185000}) is caused by mutation in the RHAG gene ({180297}) on chromosome 6p12.\n\nSee {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome.\n\n<Subhead> Reviews\n\n{9:Delaunay (2004)} reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.\n\n{6:Bruce (2009)} provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. {6:Bruce (2009)} suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.\n\n{20:King and Zanella (2013)} provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis ({266140}); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. {19:King et al. (2015)} reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders." +194450,{2:Steinberg and Giles (1959)} described a mendelian serum factor in man detected by effects on a mating reaction in yeast. {1:Chautard-Freire-Maia (1974)} used it in linkage studies. +200100,"Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; {615558}) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by {20:Lee and Hegele, 2014})." +200110,"Ablepharon-macrostomia syndrome (AMS) is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by {7:Marchegiani et al., 2015})." +200130,"{1:Hall et al. (1974)} reported 2 brothers with mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose. One had had a 'cervical spinal cyst' removed at age 1 year and the second had occipital cranium bifidum occulatum. The parents were unrelated. They and 3 brothers were normal." +200150,"Choreoacanthocytosis (CHAC) is a rare disorder characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life ({26:Rubio et al., 1997}).\n\nSee also McLeod syndrome ({300842}) for a phenotypically similar disorder." +200170,"{1:Flier et al. (1980)} described a brother and sister with insulin resistance, acanthosis nigricans, severe muscle cramps, large puffy hands, and enlarged kidneys. The sister had polycystic ovaries with virilization. Following dilantin treatment, the cramps improved dramatically and in the male insulin resistance decreased. The sibship contained 11 children of whom 1 other may have been affected." +200400,"Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (summary by {4:Farrokhi and Vaezi, 2007} and {6:Gockel et al., 2010})." +200500,"Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by {10:Ianakiev et al., 2001})." +200600,"The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death ({9:Maroteaux and Lamy, 1968}; {8:Langer et al., 1969}). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.\n\n<Subhead> Classification of Achondrogenesis\n\nAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). {2:Borochowitz et al. (1988)} suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by {7:Houston et al. (1972)} and {6:Harris et al. (1972)}, and type IB ({600972}), corresponding to the case originally published by {3:Fraccaro (1952)}. Analysis of the case reported by {11:Parenti (1936)} by {2:Borochowitz et al. (1988)} suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type ({200610}). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. {16:Superti-Furga (1996)} suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder.\n\n<Subhead> Genetic Heterogeneity of Achondrogenesis\n\nAchondrogenesis type IB (ACG1B; {600972}) is caused by mutation in the DTDST gene ({606718}), and achondrogenesis type II (ACG2; {200610}) is caused by mutation in the COL2A1 gene ({120140})." +200610,"Achondrogenesis type II is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. This form is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by {5:Comstock et al., 2010})." +200700,"Acromesomelic dysplasia-2A (AMD2A), or Grebe chondrodysplasia, is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by {19:Thomas et al., 1997}). Because Grebe syndrome exhibits increasing severity in a proximal-distal gradient, it is classified as a form of acromesomelic dysplasia ({1:Costa et al., 1998}).\n\nFor discussion of the genetic heterogeneity of acromesomelic dysplasia, see AMD1 ({602875})." +200990,"The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet ({28:Schinzel and Schmid, 1980}). It is considered a ciliopathy ({21:Putoux et al., 2011}).\n\nJoubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.\n\nHydrolethalus-2 (HLS2; {614120}) is an allelic disorder with a more severe phenotype and death in utero." +200995,"Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by {4:Phadke et al., 2011})." +201000,"Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by {2:Altunhan et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Carpenter Syndrome\n\nCarpenter syndrome-2 (CRPT2; {614976}), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene ({604267})." +201020,"{2:Goodman et al. (1979)} applied the designation ACPS IV to a syndrome they observed in 3 offspring of a first-cousin marriage. They felt that the presence of clinodactyly, camptodactyly, and ulnar deviation distinguished the disorder from Carpenter syndrome. In 3 of 8 children of a first-cousin Iranian Jewish couple, {2:Goodman et al. (1979)} observed a seemingly new form of acrocephalopolysyndactyly. Two of the 3 sibs were available for study. One had died previously of acyanotic congenital heart malformation at age 2 and one of the living sibs, a female aged 17 years, had Eisenmenger syndrome. {3:Hall et al. (1980)} questioned that one can be certain of the distinctness of the autosomal recessive acrocephalopolysyndactylies because of the marked intrafamilial variability. At the least, differentiation on clinical grounds may be difficult. {1:Cohen et al. (1987)} concluded that Goodman syndrome is a variant of the Carpenter syndrome ({201000})." +201250,"Acromesomelic dysplasia-2C (AMD2C) is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by {10:Thomas et al., 1996}).\n\nFor a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 ({601875})." +201310,"{3:Miltenyi et al. (1992)} described a brother and sister with tetraectrodactyly and oligomeganephronic renal hypoplasia. {2:Miltenyi et al. (1984)} described a brother who died at the age of 27 months of renal insufficiency. Five years later the mother gave birth to a girl with the same disorder. The girl required chronic peritoneal dialysis after the age of 4 years. Her feet showed typical lobster claw deformity. On both hands, only the fourth and fifth fingers were present with clinodactyly of the latter one. {1:Akl (1994)} described a 4-year-old boy who had chronic renal failure secondary to focal segmental glomerular sclerosis as well as abnormalities of the right hand. The parents were first cousins. A female sib, 1 year of age, and a 1-year-old male first cousin had chronic renal failure; neither had hand abnormalities. The fathers, who were brothers, married their first cousins, who were sisters." +201400,"Congenital isolated adrenocorticotropic hormone deficiency is characterized by severe hypoglycemia in the neonatal period, associated with seizures in about half of cases; prolonged cholestatic jaundice; and very low plasma ACTH levels with no significant response to CRH ({122560}). Plasma cortisol levels are also extremely low ({12:Vallette-Kasic et al., 2005}). TBX19 is required for initiation of transcription of the POMC gene ({176830}), which produces the precursor peptide from which ACTH is derived ({7:Lamolet et al., 2001})." +201450,"Inherited deficiency of medium-chain acyl-CoA dehydrogenase is characterized by intolerance to prolonged fasting, recurrent episodes of hypoglycemic coma with medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue carnitine levels. The disorder may be severe, and even fatal, in young patients ({16:Matsubara et al., 1986})." +201470,"SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. With the advent of screening for inborn errors of metabolism, patients with putative pathogenic mutations but who remain asymptomatic have also been identified (summary by {19:Shirao et al., 2010})." +201475,"Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (ACADMD; {201450}), short-chain acyl-CoA dehydrogenase deficiency (ACADSD; {201470}), and very long-chain acyl-CoA dehydrogenase deficiency.\n\nVLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting ({1:Andresen et al., 1999}).\n\nPatients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency ({31:Strauss et al., 1995}; {30:Roe and Ding, 2001})." +201710,"Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by {12:Lin et al., 1991} and {4:Bose et al., 1996})." +201750,"The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by {6:McGlaughlin et al., 2010}).\n\nA form of Antley-Bixler syndrome with normal steroidogenesis (ABS2; {207410}) is a distinct disorder caused by mutation in the FGFR2 gene ({176943})." +201810,"Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by {11:Rheaume et al., 1992})." +201910,"Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization.\n\n{129:Slominski et al. (1996)} presented evidence that the CYP21A2, CYP11A1 ({118485}), CYP17 ({609300}), and ACTHR ({202200}) genes are expressed in skin (see {202200}). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally." +202010,"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension ({22:White et al., 1991}).\n\nCAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency ({201910}) ({22:White et al., 1991})." +202150,"{1:Burke et al. (1988)} described a male infant and his 2 sisters who died in the neonatal period with congenital adrenal hypoplasia of the 'miniature adult' type, in which the fetal cortex is nearly absent and the miniature adrenal cortex consists almost exclusively of permanent cortex. The glomerulosa and fasciculata are usually present. The male, who died at 4 days of age, had micropenis and undescended testes with deficient Leydig cells. Although there were no gross or microscopic structural defects of the brain or pituitary gland, lack of luteinizing hormone (LH) was demonstrated in the pituitary gland by immunohistochemical study. The 2 sisters likewise showed selective absence of LH in pituitary cells on immunostaining. Glycerol kinase (GK) activity was reduced, as it is in X-linked adrenal hypoplasia in which there is associated deletion of the neighboring locus on Xp that codes for this enzyme. {1:Burke et al. (1988)} concluded, however, that the reduced GK activity was related to the apparently autosomal recessive disorder through some other mechanism. The authors considered the possibility that the primary defect might lie in luteinizing hormone releasing hormone (LHRH; {152760}), but were unable to obtain convincing evidence of this from DNA studies. The authors provided a tabular review of the differences between the cytomegalic and the 'miniature adult' forms of congenital adrenal hypoplasia. They also provided a tabular review of the reported cases of each type (see {240200})." +202155,"Congenital hypoplasia of the adrenal glands occurs as an X-linked disorder ({300200}) and as an autosomal recessive disorder ({240200}). The histologic findings are different in the two: the X-linked form is sometimes referred to as the cytomegalic type because of the large cells present as the only remaining cortical tissue. In the autosomal recessive form, there is absence or near absence of both fetal and permanent cortex, resulting in what is sometimes called the 'miniature adult' type because the small adrenal cortex consists almost exclusively of permanent cortex. {1:Kruger et al. (1993)} presented the case of a female small-for-dates infant who died at age 7 weeks and was found to have cytomegalic congenital adrenal hypoplasia. The second child of the same parents was also a girl with adrenocortical insufficiency; at the age of 1 year, her adrenal glands could not be identified by computed tomography." +202200,"Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal. Production of mineralocorticoids by the adrenal is normal. Patients present in early life with low or undetectable cortisol and, because of the failure of the negative feedback loop to the pituitary and hypothalamus, grossly elevated ACTH levels (summary by {2:Clark et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Familial Glucocorticoid Deficiency\n\nFamilial glucocorticoid deficiency-2 (GCCD2; {607398}) is caused by mutation in the MRAP gene ({609196}) on chromosome 21q22. GCCD3 ({609197}) has been mapped to chromosome 8q11.2-q13.2. GCCD4 with or without mineralocorticoid deficiency ({614736}) is caused by mutation in the NNT gene ({607878}) on chromosome 5p12. GCCD5 ({617825}) is caused by mutation in the TXNRD2 gene ({606448}) on chromosome 22q11." +202300,"Adrenocortical carcinoma (ADCC) is a rare but aggressive childhood tumor, representing about 0.4% of childhood tumors, with a high incidence of associated tumors. ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome ({130650}) and is a component tumor in Li-Fraumeni syndrome (LFS; {151623})." +202355,"{2:Yamaoka et al. (1992)} described a 26-year-old Japanese male and his 29-year-old male cousin referred for hyperpigmentation and found to have unresponsiveness to ACTH, which they suggested might be due to a pathogenic defect occurring after cAMP generation. Although the patients showed increased plasma ACTH, decreased plasma cortisol and dehydroepiandrosterone, and no steroidogenic response to exogenous ACTH, they responded normally to both furosemide administration and to a low sodium diet by showing increases in plasma aldosterone. ACTH receptors in peripheral blood mononuclear leukocytes were normal in contrast to the deficiency reported by {1:Smith et al. (1987)} in a patient with the usual form of hereditary adrenocortical unresponsiveness to ACTH ({202200}). ACTH receptors in monocytes from these patients were similar to those from a normal control subject in both number and affinity." +202370,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {2:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX5 gene have cells of complementation group 2 (CG2). For information on the history of PBD complementation groups, see {214100}." +202400,"Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; {202400}) or the quality (dysfibrinogenemia; {616004}) of the circulating fibrinogen or both (hypodysfibrinogenemia; see {616004}). Afibrinogenemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial hemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. Menstruating women may experience menometrorrhagia. First-trimester abortion is common. Both arterial and venous thromboembolic complications have been reported (summary by {6:de Moerloose and Neerman-Arbez, 2009}).\n\nHypofibrinogenemia is characterized by reduced amounts of immunoreactive fibrinogen. Patients are often heterozygous carriers of afibrinogenemia mutations and are usually asymptomatic. However, they may bleed when exposed to trauma or if they have a second associated hemostatic abnormality. Women may experience miscarriages. Liver disease occurs in rare cases (summary by {6:de Moerloose and Neerman-Arbez, 2009})." +202550,{1:MacKinnon and Cohen (1977)} concluded that total intestinal aganglionosis is distinct from Hirschsprung disease ({142623}) of either the long or short segment type and is inherited as an autosomal recessive. They found reports of 9 cases in 6 families. Each of 3 families had 2 affected sibs. +202650,"Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by {5:Faye-Petersen et al., 2006})." +202700,"Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections ({27:Skokowa et al., 2007}). About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations, resulting in a form of severe congenital neutropenia, which is designated here as SCN1.\n\n<Subhead> Genetic Heterogeneity of Severe Congenital Neutropenia\n\nSevere congenital neutropenia is a genetically heterogeneous disorder showing autosomal dominant, autosomal recessive, and X-linked inheritance. Other autosomal dominant forms are SCN2 ({613107}), caused by mutation in the protooncogene GFI1 ({600871}) on 1p22; SCN8 ({618752}), caused by mutation in the SRP54 gene ({604857}) on 14q13; and SCN9 ({619813}), caused by mutation in the CLPB gene ({616254}) on 11q13.\n\nAutosomal recessive forms include SCN3 ({610738}), caused by mutation in the HAX1 gene ({605998}) on 1q21; SCN4 ({612541}), caused by mutation in the G6PC3 gene ({611045}) on 17q21; SCN5 ({615285}), caused by mutation in the VPS45 gene ({610035}) on 1q21; SCN6 ({616022}), caused by mutation in the JAGN1 gene ({616012}) on 3p25; and SCN7 ({617014}), caused by mutation in the CSF3R gene ({138971}) on 1p34.\n\nX-linked SCN (SCNX; {300299}) is caused by mutation in the WAS gene ({300392}) on Xp11.\n\nSee also adult chronic idiopathic nonimmune neutropenia ({607847}) and chronic benign familial neutropenia ({162700}).\n\n<Subhead> Susceptibility to Myelodysplastic Syndrome/Acute Myeloid Leukemia\n\nSCN patients with acquired mutations in the granulocyte colony-stimulating factor receptor (CSF3R; {138971}) in hematopoietic cells define a group with high risk for progression to myelodysplastic syndrome and/or acute myeloid leukemia. Approximately 80% of SCN patients who develop AML are heterozygous for somatic CSF3R mutations (summary by {17:Klimiankou et al., 2016})." +202900,"{2:Stimmler et al. (1970)} described 2 sisters born in 1963 and 1964 with microcephaly at birth, low birth weight, severe mental retardation and dwarfism, small teeth, and diabetes mellitus. Excessive quantities of alanine were found in the urine. Alanine, pyruvate, and lactate were elevated in the blood. Pyruvate was thought to be a source of the alanine. The authors contrasted the findings with those in the condition described by {1:Haworth et al. (1967)} and in Leigh subacute necrotizing encephalopathy with lactic acidosis ({3:Worsley et al., 1965}). The main differences were elevated plasma chloride and lack of hyperalaninemia in the other two conditions." +203000,"{3:Rimoin (1969)} and {1:Fox et al. (1976)} described 2 sisters with an identical malformation of the nose consisting mainly of hypoplasia and coloboma of the alar cartilages. Both also showed telecanthus. The parents and other relatives were unaffected and no parental consanguinity was reported. This remains a unique observation ({2:Gorlin, 1982})." +203100,"Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterized by decreased or absent pigmentation in the hair, skin, and eyes. The term 'albinism' includes specific ocular changes that are the results of reduced amounts of melanin in the developing eye; these abnormalities in the eye and optic system are specific and necessary for the diagnosis. Aside from decreased pigment in the iris and retina, optic changes include decreased visual acuity, misrouting of the optic nerves at the chiasm, and nystagmus ({21:King et al., 2001}).\n\nAlthough OCA caused by mutations in the TYR gene was classically known as 'tyrosinase-negative' OCA, {51:Tripathi et al. (1992)} noted that some patients with 'tyrosinase-positive' OCA may indeed have TYR mutations resulting in residual enzyme activity. These patients can be classified as having OCA1B.\n\n<Subhead> Genetic Heterogeneity of Oculocutaneous Albinism\n\nOCA1, caused by mutations in the TYR gene, is divided clinically into 2 types: type IA, OCA1A, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB (OCA1B; {606952}), characterized by reduced activity of tyrosinase. OCA2 ({203200}), OCA3 ({203290}), and OCA4 ({606574}) are somewhat milder forms of the disorder, caused by mutations in the OCA2 ({611409}), TYRP1 ({115501}), and MATP (SLC45A2; {606202}) genes, respectively. OCA5 ({615312}) has been mapped to chromosome 4q24. OCA6 (see {113750}) is caused by mutation in the SLC24A5 gene ({609802}). OCA7 ({615179}) is caused by mutation in the C10ORF11 gene ({614537}). OCA8 ({619165}) is caused by mutation in the DCT gene ({191275}).\n\nSee also ocular albinism (OA1; {300500}), which is restricted phenotypically to ocular involvement only." +203200,"Tyrosinase-positive oculocutaneous albinism (OCA, type II) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have OCA type I, or complete absence of melanin pigment, most patients with OCA type II acquire small amounts of pigment with age. Individuals with OCA type II have the characteristic visual anomalies associated with albinism, including decreased acuity and nystagmus, which are usually less severe than in OCA type I ({16:Lee et al., 1994}; {11:King et al., 2001}).\n\nOCA type II has a highly variable phenotype. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. The hair and irides may turn darker with time and the skin may tan with sun exposure; the ocular features of albinism are present in all variants ({11:King et al., 2001}). In addition, previous reports of so-called 'autosomal recessive ocular albinism,' (see, e.g., {41:Witkop et al., 1978} and {24:O'Donnell et al., 1978}) with little or no obvious skin involvement, are now considered most likely to be part of the phenotypic spectrum of OCA1 or OCA2 ({16:Lee et al., 1994}; {11:King et al., 2001})." +203300,"Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes ({19:Oh et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Hermansky-Pudlak Syndrome\n\nHPS2 ({608233}) is caused by mutation in the AP3B1 gene ({603401}) on chromosome 5q14. HPS3 ({614072}) is caused by mutation in the HSP3 gene ({606118}) on chromosome 3q24. HPS4 ({614073}) is caused by mutation in the HSP4 gene ({606682}) on chromosome 22q12. HPS5 ({614074}) is caused by mutation in the HPS5 gene ({607521}) on chromosome 11p14. HPS6 ({614075}) is caused by mutation in the HPS6 gene ({607522}) on chromosome 10q24. HPS7 ({614076}) is caused by mutation in the DTNBP1 gene ({607145}) on chromosome 6p22. HPS8 ({614077}) is caused by mutation in the BLOC1S3 gene ({609762}) on chromosome 19q13. HPS9 ({614171}) is caused by mutation in the PLDN gene ({604310}) on chromosome 15q21. HPS10 ({617050}) is caused by mutation in the AP3D1 gene ({607246}) on chromosome 19p13. HPS11 ({619172}) is caused by mutation in the BLOC1S5 gene ({607289}) on chromosome 6p24." +203330,"Pseudohypoparathyroidism (PHP) is a term applied to a heterogeneous group of disorders whose common feature is resistance to parathyroid hormone (PTH; {168450}). PHP type II is characterized by a normal cAMP response to PTH infusion, but a deficient phosphaturic response, indicating a defect distal to cAMP generation in renal cells. The clinical features of Albright hereditary osteodystrophy (AHO; see {103580}) are not present in PHP II ({3:Mantovani and Spada, 2006}).\n\nFor a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A ({103580})." +203400,"CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). This enzymatic defect results in decreased aldosterone and salt-wasting. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal. These patients have an increased ratio of corticosterone to 18-OHB ({6:Portrat-Doyen et al., 1998}).\n\nThe CYP11B2 gene product also catalyzes the final step in aldosterone biosynthesis: the 18-oxidation of 18-OHB to aldosterone. A defect in that enzymatic step results in CMO type II deficiency ({610600}), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB ({6:Portrat-Doyen et al., 1998})." +203450,"In decreasing order of frequency, 3 forms of Alexander disease (ALXDRD) are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region ({6:Gorospe et al., 2002}). All 3 forms have been shown to be caused by mutations in the GFAP gene." +203500,"Alkaptonuria is an autosomal recessive metabolic disorder characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine arthritis, and destruction of the cardiac valves (summary by {41:Vilboux et al., 2009}).\n\nAlkaptonuria enjoys the historic distinction of being one of the first conditions in which mendelian recessive inheritance was proposed (by {14:Garrod, 1902}, on the suggestion of Bateson) and of being 1 of the 4 conditions in the charter group of inborn errors of metabolism. The manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and arthritis, especially characteristic in the spine." +203600,"In the family reported by {2:Moynahan (1962)}, 2 brothers were affected. The alopecia consisted of a delay in the growth of hair. The father of the boys had been bald until age 2 and a maternal aunt until age 4. {1:Mosavy (1975)} observed 4 affected sibs and {3:Pfeiffer and Volklein (1982)} reported affected brother and sister. {5:Wessel et al. (1987)} reported 3 sibs with alopecia, seizures, and mental retardation. In a family derived from Bangladesh, {4:van Haeringen et al. (1990)} described a father and 3 children (of 7) with microcephaly, sparse hair, mild to moderate mental retardation, and, in the 2 affected boys, generalized seizures. The affected father was related to his wife, so this may be an instance of pseudodominance of a recessive disorder. It is difficult to distinguish this disorder from that described in entry {203650}." +203650,"Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder in which affected individuals show loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation (summary by {7:Wali et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Alopecia-Mental Retardation Syndrome\n\nLoci for alopecia-mental retardation syndrome have been mapped to chromosome 3q26.2-q26.31 (APMR2; {610422}) and chromosome 18q11.2-q12.2 (APMR3; {613930}). APMR4 ({618840}) is caused by mutation in the LSS gene ({600909}) on chromosome 21q22." +203655,"Alopecia universalis congenita is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair ({7:Nothen et al., 1998}).\n\nThis rare disorder is clearly distinct from alopecia areata (AA1; {104000}), which has an autoimmune basis with probable genetic predisposition." +203700,"Mitochondrial DNA depletion syndrome-4A, also known as Alpers syndrome, is an autosomal recessive disorder characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children. Pathologic findings include neuronal loss in the cerebral gray matter with reactive astrocytosis and liver cirrhosis. The disorder is progressive and often leads to death from hepatic failure or status epilepticus before age 3 years (review by {19:Milone and Massie, 2010}).\n\nSome affected individuals may show mild intermittent 3-methylglutaconic aciduria and defects in mitochondrial oxidative phosphorylation ({29:Wortmann et al., 2009}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 ({603041}).\n\nNeuropathologic changes characteristic of Alpers syndrome, namely laminar cortical necrosis, may also be seen in some patients with combined oxidative phosphorylation deficiency-14 (COXPD14; {614946}), caused by mutation in the FARS2 gene ({611592}), and COXPD24 ({616239}), caused by mutation in the NARS2 gene ({612803})." +203740,"Oxoglutarate dehydrogenase deficiency (OGDHD) is an autosomal recessive disorder associated with features of infantile- and pediatric-onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures (summary by {3:Yap et al., 2021})." +203750,"Alpha-methylacetoacetic aciduria, also known as 3-ketothiolase deficiency, is an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and 2-butanone." +203760,"{2:Meigel et al. (1974)} described a 10-year-old son of consanguineous parents, with an apparently 'new' connective tissue disorder. The clinical and radiologic abnormalities were reminiscent of both Marfan syndrome and osteogenesis imperfecta. Study of cultured fibroblasts showed a complete failure of synthesis of alpha-2 chains of collagen. Information on the collagen synthesis by cultured fibroblasts from the parents would be of interest in connection with the presumed autosomal recessive inheritance. The assignment of the gene for the alpha-2 chain of type I collagen to chromosome 7 ({1:Junien et al., 1982}) may indicate that the mutation in Meigel disease is situated on that chromosome. {3:Spranger (1981)} pointed out that the findings in this single case are in question because of the tendency of normal cultured fibroblasts to show defective synthesis or secretion of alpha-2 chains." +203780,"Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur ({14:Mochizuki et al., 1994}; {2:Colville et al. (1997)}).\n\nFor a general phenotypic description of Alport syndrome, see the X-linked dominant form (ATS1; {301050}). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (ATS3; {104200}) is rare ({17:van der Loop et al., 2000}).\n\nSee also benign familial hematuria (BFH; {141200}), a similar but milder disorder." +203800,"Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age (summary by {10:Collin et al., 2002}; {20:Marshall et al., 2007})." +204000,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {4:Chung and Traboulsi, 2009}).\n\n<Subhead> Genetic Heterogeneity of Leber Congenital Amaurosis\n\nLCA2 ({204100}) is caused by mutation in the RPE65 gene (RPE65; {180069}) on chromosome 1p31. LCA3 ({604232}) is caused by mutation in the SPATA7 gene ({609868}) on chromosome 14q31. LCA4 ({604393}) is caused by mutation in the AIPL1 gene ({604392}) on chromosome 17p13. LCA5 ({604537}) is caused by mutation in the LCA5 gene ({611408}) on chromosome 6q14. LCA6 ({613826}) is caused by mutation in the RPGRIP1 gene ({605446}) on chromosome 14q11. LCA7 ({613829}) is caused by mutation in the CRX gene ({602225}) on chromosome 19q13. LCA8 ({613835}) is caused by mutation in the CRB1 gene ({604210}) on chromosome 1q31. LCA9 ({608553}) is caused by mutation in the NMNAT1 gene ({608700}) on chromosome 1p36. LCA10 ({611755}) is caused by mutation in the CEP290 gene ({610142}) on chromosome 12q21 and may account for as many as 21% of cases of LCA. LCA11 ({613837}) is caused by mutation in the IMPDH1 gene ({146690}) on chromosome 7q32. LCA12 ({610612}) is caused by mutation in the RD3 gene ({180040}) on chromosome 1q32. LCA13 ({612712}) is caused by mutation in the RDH12 gene ({608830}) on chromosome 14q24. LCA14 ({613341}) is caused by mutation in the LRAT gene ({604863}) on chromosome 4q32. LCA15 ({613843}) is caused by mutation in the TULP1 gene ({602280}) on chromosome 6p21. LCA16 ({614186}) is caused by mutation in the KCNJ13 gene ({603208}) on chromosome 2q37. LCA17 ({615360}) is caused by mutation in the GDF6 gene ({601147}) on chromosome 8q22. LCA18 (see {608133}) is caused by mutation in the PRPH2 gene ({179605}) on chromosome 6p21. LCA19 ({618513}) is caused by mutation in the USP45 gene ({618439}) on chromosome 6q16.\n\n{23:Perrault et al. (1999)} provided a review of Leber congenital amaurosis, with emphasis on genetic heterogeneity.\n\n{34:Wiszniewski et al. (2011)} analyzed 13 known LCA genes in 60 LCA probands, and identified homozygous or compound heterozygous mutations in 42 (70%). In addition, a third disease-associated mutant allele at a second locus was identified in 7 (12%) of the 60 patients. {34:Wiszniewski et al. (2011)} stated that the significance of the third mutated allele was unknown, but suggested that mutational load might be important to penetrance of the LCA phenotype.\n\nBecause LCA manifests very early in life and results in profound vision loss, patients with mutations in other syndromic or nonsyndromic eye disease genes may receive an initial diagnosis of LCA, prior to development of syndromic features or before more thorough phenotyping can be performed (see, e.g., Senior-Loken syndrome-5, {609254})." +204100,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {4:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}." +204110,"{1:Jalili (1989)} studied 2 female cousins, both the products of consanguineous marriages, affected with severe retinal dystrophy characterized by visual impairment from birth and profound photophobia in the absence of night blindness. The ophthalmologic characteristics suggested a cone-rod type of congenital amaurosis. Associated in both girls was trichomegaly ({190330}), bushy eyebrows with synophrys, and excessive facial and body hair (including hypertrophied circumareolar hair on the breasts of the older, postpubertal cousin). The patients were not mentally retarded; see {275400}." +204200,"The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure ({44:Mole et al., 2005}).\n\nThe hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 ({44:Mole et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730})." +204300,"Neuronal ceroid lipofuscinosis-6B (CLN6B) is an autosomal recessive form of 'Kufs disease,' which refers in general to adult-onset neuronal ceroid lipofuscinosis without retinal involvement. CLN6B is a neurodegenerative disorder with a mean onset of symptoms at around age 28 years, although onset in the teens and later adulthood may also occur. Patients typically present with progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging. Ultrastructural examination typically shows fingerprint profiles and granular osmiophilic deposits in some tissues, including brain samples (summary by {1:Arsov et al., 2011} and {3:Berkovic et al., 2019}). However, pathologic findings in peripheral tissues in adults is not as accurate for diagnosis as it is in children with the disease ({4:Cherian et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730})." +204500,"The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles ({15:Mole et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730})." +204690,"Amelogenesis imperfecta type IG, also known as enamel-renal syndrome, is characterized by hypoplastic enamel on primary and secondary dentition, pulp stones, delayed or failed eruption of secondary dentition, gingival overgrowth, and nephrocalcinosis. Blood chemistry analyses are typically normal, and nephrocalcinosis, which is found on renal ultrasound, may not appear until later in life (summary by {13:Wang et al., 2013})." +204700,"Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({4:Witkop, 1989}).\n\n<Subhead> Genetic Heterogeneity of the Hypomaturation Type of Amelogenesis Imperfecta\n\nSee also AI2A2 ({612529}), caused by mutation in the MMP20 gene ({604629}); AI2A3 ({613211}), caused by mutation in the WDR72 gene ({613214}); and AI2A4 ({614832}), caused by mutation in the C4ORF26 gene ({614829})." +204730,{1:Stransky et al. (1962)} described a family in which 5 of 7 sibs had this combination. The mother and 2 normal sibs had mild amino aciduria. +204750,"Alpha-aminoadipic and alpha ketoadipic aciduria (AAKAD) is an inborn error of lysine, tryptophan, and hydroxylysine metabolism, which is manifested by the accumulation and excretion of 2-aminoadipic, 2-ketoadipic, and 2-hydroxyadipic acids." +204800,"Amobarbital normally undergoes two hydroxylations, leading to 3-prime-hydroxyamobarbital (C-OH) and N-hydroxyamobarbital (N-OH). {1:Kalow et al. (1977)} described a kindred in which 2 mothers who were identical twins showed a gross deficiency of N-OH in the urine. Family data suggested that the twins were homozygous for a gene regulating N-OH formation. There was no evidence of compensatory or concordant regulation of the two hydroxylation reactions. This example illustrates that a defect in biotransformation is likely to be overlooked if one measures only the disappearance of a multimetabolized drug." +204870,"Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required for most patients (summary by {13:Tsujikawa et al., 1999})." +204900,"{1:De Souza (1963)} reported 4 affected sibs (1 male, 3 female). Onset was between 10 and 13 years of age. The lesions were mainly around the joints and were bullous in nature." +205000,"Much uncertainty exists as to what {2:Oppenheim (1900)} had in mind and what this entity is--if indeed it exists at all. See discussion by {1:Greenfield et al. (1958)} under the heading of 'the floppy infant.' When the primary defect resides in the spinal cord, the condition is infantile muscular atrophy (SMA1; {253300}), otherwise known as Werdnig-Hoffmann disease or infantile spinal amyotrophy. Possibly the term amyotonia congenita should be reserved for those conditions in which the primary abnormality resides in muscle and the disorder is essentially nonprogressive. Certainly there are multiple causes, e.g., glycogen storage diseases, the atonic-astatic syndrome of Foerster ({209100}), and the congenital nonprogressive myopathy described by Batten and by Turner ({255300}). Nemaline myopathy ({161800}, {256030}) and central core disease ({117000}) are other entities producing floppy infants.\n\n{3:Sarnat and Menkes (2006)} stated that 'Oppenheim's poorly described patients with amyotonia congenita, a now obsolete term, would likely belong to the previously described category of 'benign congenital hypotonia' denoting 'an infant with hypotonia and mild, nonprogressive weakness who either improved with maturation or at least held his own.'" +205250,"{2:Orthner et al. (1973)} reported 2 sisters with onset of ALS at 38 and 39 years of age, and death after 14 and 26 months, respectively. Weakness began in the arms and later involved the legs. Bulbar signs and symptoms followed. Autopsy showed marked loss of motor neurons. Polyglucosan bodies were found in perikarya in the cortex and cerebellum. {1:Barz et al. (1976)} reported 2 sporadic cases." +205400,"Tangier disease is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density lipoproteins (HDL) resulting in tissue accumulation of cholesterol esters. Clinical features include very large, yellow-orange tonsils, enlarged liver, spleen and lymph nodes, hypocholesterolemia, and abnormal chylomicron remnants ({7:Brooks-Wilson et al., 1999})." +206000,"{1:Cotton and Harris (1962)} reported a brother and sister with pyridoxine-responsive sideroblastic anemia. Inheritance was not consistent with the more common X-linked form (XLSA; {300751}) and autosomal recessive inheritance was proposed.\n\n{2:Kasturi et al. (1982)} reported severe sideroblastic anemia with moderate hepatosplenomegaly in 2 male and 2 female sibs from a Libyan family. The disorder was pyridoxine-responsive. The parents were not consanguineous, but {2:Kasturi et al. (1982)} suggested autosomal recessive inheritance." +206200,"{8:Finberg et al. (2008)} referred to this phenotype as iron-refractory iron deficiency anemia (IRIDA) and reviewed the key features: a congenital hypochromic, microcytic anemia; a very low mean corpuscular erythrocyte volume; a low transferrin saturation; abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron; and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron. The authors noted that although urinary levels of hepcidin ({606464}) are typically undetectable in individuals with iron deficiency, in 5 individuals with IRIDA urinary hepcidin/creatinine ratios were within or above the normal range." +206300,"In a Polish-born Jewish family, {2:Danon et al. (1962)} described an electron microscopic abnormality of the red cell membrane which probably was responsible for susceptibility to hemolysis on exposure to drugs and possibly viruses. Two sisters had similar findings. Questionable anomaly was found in the proband's son. Unfortunately, no further information is available and no studies of these or other similar cases by more advanced methods have been performed ({1:Danon, 1977})." +206400,"From Berne, {1:Tonz et al. (1961)} reported 2 brothers, aged 7 and 14 years, with hemolytic disease already manifest in the first weeks of life. Chronic jaundice, severe anemia and splenomegaly were features. Splenectomy was of some benefit. Several enzymes of the erythrocyte were normal, but pyruvate kinase activity was not measured. The urine consistently showed an increased amount of porphobilinogen and delta-aminolevulinic acid. A defect in porphyrin metabolism (i.e., heme synthesis) was suggested. Since the ancestors of the Amish cases of pyruvate kinase deficiency ({266200}) first reported by Bowman and Procopio originated in the canton Berne, studies of pyruvate kinase ({609712}) are particularly pertinent." +206500,"Anencephaly is characterized by the absence of cranial vault and brain tissues in the fetus. It is considered an extreme form of neural tube defect ({182940}) (summary by {20:Singh et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Anencephaly\n\nSee also anencephaly-2 (ANPH2; {619452}), caused by mutation in the NUAK12 gene ({608131}) on chromosome 1q32." +206550,"{1:Hapnes et al. (1980)} described large subcutaneous angiolipomata around the wrists, knees and ankles of a 16-year-old boy (his 8-year-old sister was similarly affected). The tumors extended deeply between muscles, tendons and joint capsules, without infiltration of these structures. (Infiltrating angiolipoma is distinct. The tumors appear in early adulthood. They are not multiple. No familial clustering is observed.) The tumors recurred after subtotal excision. Muscular hypotrophy and deformation of bones near the affected joints were noted. {3:Klem (1949)} reported 2 affected sibs whose deceased father was said to have been identically affected. {1:Hapnes et al. (1980)} provided follow-up on Klem's family: 1 sib had no children, the other had 2 unaffected children and 2 unaffected grandchildren. Thus, the inheritance in this case also may have been recessive. Starting from the histologic slides of 102 cases of angiolipomata with microthrombi, {4:Koudstaal (1974)} obtained information from 65 patients of whom 4 males and 4 females reported familial occurrence. Two of the 4 women turned out to be sisters, who reported lipomata in another sister, a brother, and their father. The third woman reported similar tumors in her mother and the fourth woman mentioned fatty tumors in her father, a brother and her son. The 4 males reported fatty tumors in, respectively, a son, a brother, a mother and a cousin (or nephew; in Dutch the word 'neef' can have both meanings). In the view of {6:ten Kate (1983)}, who called Koudstaal's paper to my attention, the separation of familial angiolipomatosis and familial lipomatosis ({151900}) is not certain. According to the description of {4:Koudstaal (1974)}, the head and neck and the palms and soles are spared; the tumors cause only slight discomfort, e.g., mild pain on pressure, and they do not regress spontaneously." +206700,"Gillespie syndrome (GLSP) is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by {8:Gerber et al., 2016} and {17:McEntagart et al., 2016})." +206750,"{2:Sommer et al. (1974)} reported a brother and sister with this syndrome. The children had congenital glaucoma, telecanthus and frontal bossing as well. The parents were not related. Searches for abnormality in chromosome 11p with 'banding' methods might be worthwhile in light of the deletion found in cases of the WAGR syndrome ({194070}). The condition ({109120}) reported by {1:De Hauwere et al. (1973)} bore some similarity." +206800,"Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by {4:Bruchle et al., 2008}). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050})." +206900,"Syndromic microphthalmia-3 (MCOPS3) is characterized by clinical anophthalmia or microphthalmia with or without defects of the optic nerve, optic chiasm, and optic tract. Extraocular abnormalities include brain anomalies, seizures, motor disability, neurocognitive delays, sensorineural hearing loss, and esophageal atresia. Hypoplasia of the anterior pituitary is another major complication, which frequently results in growth hormone deficiency; however, gonadotropin deficiency is likely to be the most consistent endocrinopathy in patients with SOX2 mutation (summary by {20:Numakura et al., 2010})." +207000,"{1:Amoore (1967)} studied anosmia for the sweat-like odor of isobutyric acid. The frequency was about 2.5%. No family studies were reported. By analogy to Daltonism, he suggested it be called Davism in honor of Alfred Davis who described it." +207300,{1:Brown et al. (1963)} described a hemorrhagic diathesis apparently due to the presence of an antithrombin as the primary defect. The disorder occurred in a Mohawk Indian kindred. Recessive inheritance is not completely certain. See {107300} for a discussion of antithrombin III deficiency. +207410,"The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by {19:McGlaughlin et al., 2010})." +207500,"Families with multiple affected sibs, both male and female, have been reported ({2:Van Gelder and Kloepfer, 1961}; {3:Winkler and Weinstein, 1970}). See {301800}. {1:Soussou et al. (1974)} reported 3 affected sisters, but favored multifactorial inheritance." +207600,"{3:Hirsch et al. (1964)} observed Japanese sisters with aortic arch syndrome. This common disease in Japanese is not strikingly familial. The racial concentration of cases is not necessarily genetic. The disease is relatively frequent throughout the Orient, for example, in India among Caucasoid people of that country. Several studies suggest an autoimmune basis. A modest familial aggregation may have the same basis as that observed in other types of possible autoimmune disease, such as Hashimoto struma ({140300}). {2:Hermann and Pluhor (1964)} observed affected European sisters. {9:Numano et al. (1978)} reported the disorder in Japanese monozygotic twin sisters whose parents were healthy but first cousins. They reviewed several other reports of familial occurrence including 3 mother-daughter pairs, 3 sister pairs, and 2 brother-sister pairs. {10:Numano et al. (1979)} pointed out the high frequency in South America as well as in Asia. In 10 affected women in North America (7 white, 2 Korean, 1 racially mixed (white-black)), {14:Volkman et al. (1982)} found an association with MB3 and DR4. {15:Yoshida et al. (1993)} confirmed an increased frequency of HLA-B52, as reported by {5:Isohisa et al. (1978)}. Furthermore, they showed that the disease-associated HLA-B alleles share an epitope composed of glu63 and ser67.\n\n{7:Matsuyama et al. (2003)} measured circulating levels of the matrix metalloproteinases 2 (MMP2; {120360}), 3 (MMP3; {185250}), and 9 (MMP9; {120361}) in 25 patients with Takayasu arteritis and 20 age- and sex-matched healthy controls. Levels of all 3 metalloproteinases were higher in patients with active disease than in controls (p less than 0.0001 for each), and MMP2 levels remained elevated even in remission. In contrast, an improvement in clinical signs and symptoms was associated with a marked reduction in circulating MMP3 and MMP9 levels in all patients (p less than 0.05). {7:Matsuyama et al. (2003)} concluded that MMP2 could be helpful in diagnosing Takayasu arteritis and that MMP3 and MMP9 could be used as activity markers for the disease." +207620,"{1:Johnson and Munson (1990)} described infant sibs, a female and male, with aphalangy of the hands and feet, hemivertebrae, and visceral malformations which included, in the female, pulmonary hypoplasia, ventricular septal defect, and dysgenesis of the urogenital tract and rectum. The female died in the neonatal period; the male was in good health with normal psychomotor development at the age of 6 months. The mother and her father and grandfather had symphalangism ({185800}) of both index fingers. {2:Johnson and Munson (1991)} reported the birth of another affected brother." +207720,"{1:Adickes et al. (1986)} described lethal sleep apnea in 4 of 6 sibs, including a pair of twin girls. The first twin developed normally until the age of 25 months when, during sleep, she developed irregular respirations, perioral cyanosis, flaccidity, and urinary incontinence. Several other similar episodes followed during one of which the child died at the age of 27 months. The second twin first displayed sleep apnea at age 27 months, shortly after the death of her twin sister. She died after an apneic episode at the age of 31 months. A brother died at 18 months after a single episode of sleep apnea. The fourth affected sib, a girl, was evaluated for apneic tendency at 7 weeks of age, because of the experience with the previous 3 sibs. She was found to be affected. Between 2 and 31 months of age, numerous hospitalizations were required for apneic episodes, some with severe lactic acidosis. Inhibitor substance to thiamine triphosphate (TTP) was present in the urine. The child died at age 31 months as a result of a severe apneic spell. {1:Adickes et al. (1986)} concluded that this may be a form of subacute necrotizing encephalomyopathy (Leigh disease; {256000}). Lesions were confined to the respiratory centers of the lower brain stem." +207731,"{1:Bronspiegel et al. (1985)} described an Ashkenazi Jewish boy who at birth had aplasia cutis congenita of the vertex and edema which persisted for 6 months. At 3 years of age he presented with generalized edema and was found to have hypoproteinemia and lymphopenia. Radioisotope studies and a small intestinal biopsy confirmed the diagnosis of intestinal lymphangiectasia. On a fat-free, medium-chain triglyceride-containing diet, clinical and laboratory findings returned to normal. A subsequently born brother had nonpitting limb edema and extensive ACC of the vertex with an underlying bony defect. He died in shock at 2 months of age, after sudden profuse bleeding from the sagittal sinus." +207740,"Among the 9 children of parents related as first cousins once removed, {1:Hamanishi et al. (1986)} found 3 (a female and 2 males) with a curious combination of manifestations: congenital unilateral flexion deformities of the thumb and some fingers, and 'polyneuropathic electrophysiologic findings' in all 4 limbs. The sibs were young adults at the time of report. At operation, the extensor muscles and their tendons were absent or hypoplastic. The hand without flexion deformities showed hypesthesia and hypohidrosis on the radial side. It appears that the polyneuropathy was asymptomatic. It was noted in the case of the oldest that 'sensory disturbance was first noticed in the right hand when she was 11 years old.'" +207750,"Clinically and biochemically, apoC-II deficiency closely simulates lipoprotein lipase deficiency, or hyperlipoproteinemia type I ({238600}), and is therefore referred to as hyperlipoproteinemia type IB." +207780,"AREDYLD, the acronym derived from the main features of a syndrome described by {2:Pinheiro et al. (1983)} and used by them as its name, comes from acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. (Being unpronounceable as a word, not easily spelled out, and certainly not mnemonic, it is of dubious acceptability.) The description was based on the 22-year-old daughter of second-cousin parents who had lipoatrophic diabetes, unusual facial appearance (mandibular prognathism, peculiarly shaped nose, pronounced antitragal incisura), generalized hypotrichosis, 2 natal teeth with enamel dysplasia, eruption of 4 dysplastic deciduous teeth, absence of permanent dentition, low birth weight, aplasia of the right breast and hypoplasia of the other, short right fifth metacarpal, etc. The renal abnormalities seem to have been minor: 'hypotonia of the right ureter and hypoplasia of the right major renal calyx.' A sister had low birth weight and sparse hair and died at age 1.5 years. Two brothers and 5 sisters were normal. The authors favored a pleiotropic recessive gene rather than close linkage of 2 recessive mutations. {1:Breslau-Siderius et al. (1992)} described a 19-year-old female with ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia. The patient had hypodontia, sparse and slow-growing scalp hair, sparse eyebrows and axillary and pubic hair, and transverse as well as longitudinal grooves of the fingernails." +207790,"Arachnoid cysts are extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid. They account for approximately 1% of intracranial space-occupying lesions, although studies since the advent of CT scanning suggest a higher percentage. A striking male preponderance has been observed (summary by {4:Wilson et al., 1988})." +207800,"Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle, the hydrolysis of arginine to urea and ornithine.\n\nUrea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency ({311250}), carbamyl phosphate synthetase deficiency ({237300}), argininosuccinate synthetase deficiency, or citrullinemia ({215700}), argininosuccinate lyase deficiency ({207900}), and arginase deficiency." +207900,"Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency ({311250}), carbamyl phosphate synthetase deficiency ({237300}), argininosuccinate synthetase deficiency, or citrullinemia ({215700}), argininosuccinate lyase deficiency, and arginase deficiency ({207800}).\n\n{10:Erez (2013)} reviewed argininosuccinic aciduria and progress in understanding it as a monogenic disorder that, like other inborn errors of metabolism, manifests as a multifactorial disorder at the phenotypic level." +207950,"Chiari malformation type II (CM2), also known as the Arnold-Chiari malformation, consists of elongation and descent of the inferior cerebellar vermis, cerebellar hemispheres, pons, medulla, and fourth ventricle through the foramen magnum into the spinal canal. CM2 is uniquely associated with myelomeningocele (open spina bifida; see {182940}) and is found only in this population ({7:Stevenson, 2004}). It is believed to be a disorder of neuroectodermal origin ({6:Schijman, 2004}).\n\nFor a general phenotypic description of the different forms of Chiari malformations, see Chiari malformation type I (CM1; {118420})." +208000,"Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by {20:Rutsch et al., 2003} and {3:Cheng et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Arterial Calcification\n\nGeneralized arterial calcification of infancy-2 (GACI2; {614473}) is caused by mutation in the ABCC6 gene ({603234}) on chromosome 16p13.\n\nHomozygous or compound heterozygous mutation in the NT5E gene ({129190}) can cause adult-onset of calcification of arteries and joints ({211800})." +208050,"Arterial tortuosity syndrome is a rare connective tissue disorder characterized by generalized tortuosity, elongation, stenosis, and aneurysms of the major arteries. Skin and joint abnormalities, including hyperextensibility or hyperlaxity of the skin, joint laxity or contractures, and inguinal hernias, may also be observed. Other abnormalities include micrognathia, elongated face, high palate, beaked nose, sliding hernia, and ventricular hypertrophy (summary by {7:Coucke et al., 2006})." +208150,"The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism ({37:Vogt et al., 2009}). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see {253290}).\n\n<Subhead> Genetic Heterogeneity of Fetal Akinesia Deformation Sequence\n\nFADS2 ({618388}) is caused by mutation in the RAPSN gene ({601592}), FADS3 ({618389}) is caused by mutation in the DOK7 gene ({618389}), and FADS4 ({618393}) is caused by mutation in the NUP88 gene ({602552}).\n\nAs mutations in the MUSK, RAPSN, and DOK7 genes have been associated with congenital myasthenic syndromes (see, e.g., CMS1A, {601462}), the disorders in these patients likely represent extreme phenotypes of CMS ({37:Vogt et al., 2009})." +208158,{1:Johnston et al. (1993)} described 2 infant brothers with joint contractures and hyperkeratotic skin changes. Severe hypoplasia of the dorsal roots and posterior columns was found in 1 sib examined at autopsy. +208250,"The camptodactyly-arthropathy-coxa vara-pericarditis syndrome is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions are found in some patients (summary by {4:Faivre et al., 2000})." +208300,"{2:Lee and Young (1953)} described chylous ascites in 2 sisters under 1 year of age. One also had swelling of one arm evident at 1 week and the entire body somewhat later and developed bilateral glaucoma in the first 6 months of life. Both this patient and the younger sister had spontaneous clearing of the manifestations. Chylous ascites and chylous pleural effusions probably occur at times with hereditary lymphedema, but this condition in its various forms is usually dominant. {1:Flores et al. (1979)} reported congenital chylous ascites in a brother and sister with first-cousin parents. Lymphangiography showed no abnormality. Intestinal biopsy showed mucosal edema but no lymphangiectasia." +208400,"Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by {27:Mononen et al., 1993} and {3:Arvio and Arvio, 2002})." +208500,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {15:Huber and Cormier-Daire, 2012} and {33:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\n<Subhead> Genetic Heterogeneity of Asphyxiating Thoracic Dysplasia\n\nSRTD1 has been mapped to chromosome 15q13. See also SRTD2 ({611263}), caused by mutation in the IFT80 gene ({611177}); SRTD3 ({613091}), caused by mutation in the DYNC2H1 gene ({603297}); SRTD4 ({613819}), caused by mutation in the TTC21B gene ({612014}); SRTD5 ({614376}), caused by mutation in the WDR19 gene ({608151}); SRTD6 ({263520}), caused by mutation in the NEK1 gene ({604588}); SRTD7 ({614091}), caused by mutation in the WDR35 gene ({613602}); SRTD8 ({615503}), caused by mutation in the WDR60 gene ({615462}); SRTD9 ({266920}), caused by mutation in the IFT140 gene ({614620}); SRTD10 ({615630}), caused by mutation in the IFT172 gene ({607386}); SRTD11 ({615633}), caused by mutation in the WDR34 gene ({613363}); SRTD13 ({616300}), caused by mutation in the CEP120 gene ({613446}); SRTD14 ({616546}), caused by mutation in the KIAA0586 gene ({610178}); SRTD15 ({617088}), caused by mutation in the DYNC2LI1 gene ({617083}); SRTD16 ({617102}), caused by mutation in the IFT52 gene ({617094}); SRTD17 ({617405}), caused by mutation in the TCTEX1D2 gene ({617353}); SRTD18 ({617866}), caused by mutation in the IFT43 gene ({614068}); SRTD19 ({617895}), caused by mutation in the IFT81 gene ({605489}); SRTD20 ({617925}), caused by mutation in the INTU gene ({610621}); and SRTD21 ({619479}), caused by mutation in the KIAA0753 gene ({617112}).\n\nSee also SRTD12 (Beemer-Langer syndrome; {269860})." +208530,"Right atrial isomerism (RAI) is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by {9:Eronen et al., 2004} and {19:Kaasinen et al., 2010})." +208600,{1:Sly and Heimlich (1967)} reported identical female twins with this combination. The mother and some of the sibs were thought also to have abnormalities of immunoglobulins. +208700,"In a brother and sister, {1:Skre and Loken (1970)} described a disorder with clinical features of Friedreich ataxia and, in the late stages, myoclonic epilepsy and progressive dementia. Neuropathologic studies showed spinocerebellar degeneration as in Friedreich ataxia, cerebral involvement as in subacute presenile dementia, and peripheral neuropathy as in Charcot-Marie-Tooth disease." +208750,"{1:Jeune et al. (1963)} described 2 gypsy sibs who, at about 6 years of age, developed a syndrome that included cerebellar ataxia, progressive sensorineural deafness, mental deficiency, and numerous freckles (or lentigines). The heart was enlarged and heart block developed. {2:Konigsmark and Gorlin (1976)} ascertained that a third sib was affected and that other relatives had the same disorder." +208870,"In a highly inbred Arab family with ataxia-telangiectasia of complementation group A (ATA; {208900}), {1:Ziv et al. (1992)} found 3 individuals who had ataxia, hypotonia, microcephaly, and congenital cataracts with nystagmus. Mental retardation was also observed in 1 of the 3 persons. The one individual appeared to be affected with both ataxia-telangiectasia and the AMC syndrome. Findings of the AMC syndrome resembled the Marinesco-Sjogren syndrome (MSS; {248800}); however, microcephaly is not part of MSS, and mental retardation was present in only 1 of the AMC patients. Cataract is not characteristic of any of the known disorders that simulate ataxia-telangiectasia. That the AMC syndrome was an entity separate from AT in the Arab family was indicated by linkage studies." +208900,"Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease ({83:Jaspers et al., 1988}). At least 4 of these (A, C, D, and E) map to chromosome 11q23 ({139:Sanal et al., 1990}) and are associated with mutations in the ATM gene." +208910,"{1:Tsukahara et al. (1986)} described 2 Japanese sisters with ataxia-telangiectasia that had typical clinical and laboratory features except for marked generalized skin pigmentation and unusually early death (at 15 months in the first born). Skin pigmentation was already present at 3 months of age in the first born and appeared at 7 months in the second affected child. Autopsy of the older child provided no obvious explanation for the hyperpigmentation. The anterior pituitary was described as containing 'occasional cells with large hyperchromic, bizarre or doughnut-shaped nuclei.'" +208920,"Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia ({18:Moreira et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Ataxia-Oculomotor Apraxia\n\nSee also AOA2 ({606002}), caused by mutation in the SETX gene ({608465}) on chromosome 9q34; AOA3 ({615217}), caused by mutation in the PIK3R5 gene ({611317}) on chromosome 17p; and AOA4 ({616267}), caused by mutation in the PNKP gene ({605610}) on chromosome 19q13." +209010,"{2,1:Feigenbaum et al. (1990, 1994)} described 2 brothers with this combination. The proband presented at age 22 years with deteriorating cognitive function, sensorineural deafness, and proteinuria. At the age of 27 years, diabetes mellitus and renal artery stenosis were diagnosed. Renal biopsy showed glomerular sclerosis and mesangiolysis. Progressive neurologic deterioration with cerebellar symptoms and photomyoclonic seizures ensued. Death occurred at age 31 years. Autopsy showed severe atherosclerosis of renal, coronary, and cerebral arteries and the aorta. Diffuse neuronal loss and gliosis of the cerebral deep gray matter, cerebellum and dentate nuclei were found, as well as scattered infarcts throughout the brain. A brother died at age 26 years with similar clinical and pathologic findings. Studies of 2 sisters and the parents were normal. In vitro studies of cultured skin fibroblasts documented partial deficiencies of complexes 3 and 4 of the mitochondrial respiratory chain. This deficiency was expressed in skin fibroblasts, kidney, and liver, but not in muscle. The findings were thought to be compatible with mitochondrial, autosomal recessive, or X-linked recessive inheritance. Many of the features were similar to those in Herrmann syndrome ({172500}), but that condition appeared to be autosomal dominant and there were different pathologic findings, namely, PAS-positive deposits in the dentate and olivary nuclei as well as the renal collecting tubules." +209050,"{2:Inceman et al. (1962)} coined the term 'essential athrombia' for a hereditary bleeding disorder of moderate severity with prolonged bleeding time, normal clot retraction and platelet count, decreased platelet adhesion and aggregation, and normal plasma clotting time and platelet factor 3 availability. {3:Khanduri et al. (1981)} observed 4 cases. The parents were consanguineous in each case. Only the proband in each family was affected; in all, 13 sibs were unaffected. {3:Khanduri et al. (1981)} supported autosomal recessive inheritance. {1:Goldman and Aledort (1972)} observed the disorder in 3 successive generations and proposed autosomal or X-linked dominant inheritance; since the parents of the proband were first cousins, this may have been an example of pseudodominance. According to the classification of {4:Ulutin (1972)}, type I congenital (or essential) athrombia shows prolonged bleeding time, normal clot retraction, and defective Salzman test in the presence of normal content and availability of PF3. In type II, the main anomaly is a disturbance between the interaction of platelet and collagen but normal ADP- and adrenalin-induced aggregation and normal Salzman test and platelet factor 3 availability." +209100,"Manifestations are oligophrenia, pronounced muscular hypotonia, static ataxia, astasia, abasia, and slow, monotonous speech. {1:Van Rossum (1959)} described an affected brother and sister from consanguineous parents. Consanguinity has been described in 2 other reports." +209300,"Atransferrinemia is characterized by microcytic anemia and by iron loading. It can be treated effectively by plasma infusions (summary by {2:Beutler et al., 2000})." +209600,"{1:Wagner and Hall (1967)} reported 2 brothers and a sister with congenital atrioventricular dissociation. They emphasized that this is distinct from A-V block. In dissociation the abnormality seems to be 'lazy' sinoatrial pacemaker with the A-V node taking over intermittently by default. In A-V block an impediment to A-V conduction exists. See heart block ({113900}, {140400}, {234700}) and nodal rhythm ({163800})." +209700,"Atrophoderma vermiculata, a form of keratosis pilaris atrophicans, typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. More rarely, the atrophy may extend to the upper lip, helices, ear lobes, and, in some cases, the limbs. The degree of inflammation, the presence of milia, and the extent of follicular plugs are variable (summary by {7:Luria and Conologue, 2009})." +209770,"{1:Cooper and Jabs (1987)} described the cases of 2 sisters born with atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and mental retardation. A tabular review of disorders associated with aural atresia was provided." +209800,"{3:Blumberg et al. (1965)} described an antigen in the serum of an Australian Aborigine, which reacted with an antibody in certain hemophilic patients who had received multiple transfusions. The same antigen appeared in the serum of some leukemia patients. {5:Blumberg et al. (1966)} found reasonably good agreement of family data with the expectations that individuals homozygous for a gene tentatively designated Au(1) have the antigen detectable by double diffusion methods, whereas persons heterozygous for the gene or lacking it entirely do not have the antigen. {6:Blumberg et al. (1967)} found that the Australia antigen was more common in patients with lepromatous leprosy than in patients with tuberculoid leprosy or in nonleprosy controls. Association with hepatitis was also demonstrated; Au(1) was found in the serum of 38-58% of patients with acute hepatitis ({9:London et al., 1969}) but in less than 0.1% of healthy North Americans. The viral nature of the Australia antigen was suggested by electron microscopic studies ({2:Bayer et al., 1968}). With fluorescent antibody techniques, Au(1) was detected consistently in the nuclei of liver cells from hepatitis patients with Au(1) in their serum ({10:Millman et al., 1969}). Australia antigen is found in the sera of patients with acute and chronic hepatitis and may actually be a form of virus. It is very common in tropical areas and persons in these areas with the antigen appear to be hepatitis carriers. The antigen is detected by immunodiffusion in agar gel (Ouchterlony method). Family studies by {4:Blumberg et al. (1969)} again suggested recessive inheritance of susceptibility to infection as manifested by presence of the Australia antigen. From study of a highly inbred population, {8:Chaventre (1978)} supported recessive inheritance of hepatic B antigenemia." +209850,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({8:Bailey et al., 1996}; {84:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({45:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({93:Schellenberg et al., 2006}).\n\n{57:Levy et al. (2009)} provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options.\n\n<Subhead> Genetic Heterogeneity of Autism\n\nAutism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22.\n\nOther susceptibility loci include AUTS3 ({608049}), which maps to chromosome 13q14; AUTS4 ({608636}), which maps to chromosome 15q11; AUTS6 ({609378}), which maps to chromosome 17q11; AUTS7 ({610676}), which maps to chromosome 17q21; AUTS8 ({607373}), which maps to chromosome 3q25-q27; AUTS9 ({611015}), which maps to chromosome 7q31; AUTS10 ({611016}), which maps to chromosome 7q36; AUTS11 ({610836}), which maps to chromosome 1q41; AUTS12 ({610838}), which maps to chromosome 21p13-q11; AUTS13 ({610908}), which maps to chromosome 12q14; AUTS14A ({611913}), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B ({614671}), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 ({612100}), associated with mutation in the CNTNAP2 gene ({604569}) on chromosome 7q35-q36; AUTS16 ({613410}), associated with mutation in the SLC9A9 gene ({608396}) on chromosome 3q24; AUTS17 ({613436}), associated with mutation in the SHANK2 gene ({603290}) on chromosome 11q13; AUTS18 ({615032}), associated with mutation in the CHD8 gene ({610528}) on chromosome 14q11; AUTS19 ({615091}), associated with mutation in the EIF4E gene ({133440}) on chromosome 4q23; and AUTS20 ({618830}), associated with mutation in the NLGN1 gene ({600568}) on chromosome 3q26. (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; {607270}) and therefore is not used as a part of this autism locus series.)\n\nThere are several X-linked forms of autism susceptibility: AUTSX1 ({300425}), associated with mutations in the NLGN3 gene ({300336}); AUTSX2 ({300495}), associated with mutations in NLGN4 ({300427}); AUTSX3 ({300496}), associated with mutations in MECP2 ({300005}); AUTSX4 ({300830}), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene ({300828}); AUTSX5 ({300847}), associated with mutations in the RPL10 gene ({312173}); and AUTSX6 ({300872}), associated with mutation in the TMLHE gene ({300777}).\n\nA locus on chromosome 2q ({606053}) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5.\n\n{25:Folstein and Rosen-Sheidley (2001)} reviewed the genetics of autism." +209880,"Idiopathic congenital central hypoventilation syndrome (CCHS), also known as 'Ondine's curse' ({10:Deonna et al., 1974}), is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. Affected individuals typically present in the first hours of life with cyanosis and increased carbon dioxide during sleep. Patients breathe normally while awake, but hypoventilate with normal respiratory rates and shallow breathing during sleep; more severely affected patients hypoventilate both awake and asleep. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia (reviewed by {40:Weese-Mayer et al., 1999}).\n\nCongenital central hypoventilation syndrome has been associated with several disorders classified as neurocristopathies, that is, aberrant phenotypes arising from a defect of migration or differentiation of neural crest cells. These include neuroblastoma ({13:Haddad et al., 1978}), ganglioneuroma ({35:Swaminathan et al., 1989}), and most frequently Hirschsprung disease (HSCR) which appears in 16% of CCHS patients. The association of CCHS and HSCR is referred to as Haddad syndrome.\n\n<Subhead> Genetic Heterogeneity of CCHS\n\nSee also CCHS2 ({619482}), caused by mutation in the MYOH1 gene ({614636}) on chromosome 12q24, and CCHS3 ({619483}), caused by mutation in the LBX1 gene ({604255}) on chromosome 10q24.\n\nCongenital central hypoventilation can be a feature of other developmental disorders, such as those caused by mutation in the MECP2 gene ({300005})." +209885,"Barber-Say syndrome is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by {13:Roche et al., 2010})." +209900,"Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by {5:Beales et al., 1999}). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by {52:Scheidecker et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Bardet-Biedl Syndrome\n\nBBS1 is caused by mutation in a gene on chromosome 11q13 ({209901}); BBS2 ({615981}), by mutation in a gene on 16q13 ({606151}); BBS3 ({600151}), by mutation in the ARL6 gene on 3q11 ({608845}); BBS4 ({615982}), by mutation in a gene on 15q22 ({600374}); BBS5 ({615983}), by mutation in a gene on 2q31 ({603650}); BBS6 ({605231}), by mutation in the MKKS gene on 20p12 ({604896}); BBS7 ({615984}), by mutation in a gene on 4q27 ({607590}); BBS8 ({615985}), by mutation in the TTC8 gene on 14q32 ({608132}); BBS9 ({615986}), by mutation in a gene on 7p14 ({607968}); BBS10 ({615987}), by mutation in a gene on 12q21 ({610148}); BBS11 ({615988}), by mutation in the TRIM32 gene on 9q33 ({602290}); BBS12 ({615989}), by mutation in a gene on 4q27 ({610683}); BBS13 ({615990}), by mutation in the MKS1 gene ({609883}) on 17q23; BBS14 ({615991}), by mutation in the CEP290 gene ({610142}) on 12q21, BBS15 ({615992}), by mutation in the WDPCP gene ({613580}) on 2p15; BBS16 ({615993}), by mutation in the SDCCAG8 gene ({613524}) on 1q43; BBS17 ({615994}), by mutation in the LZTFL1 gene ({606568}) on 3p21; BBS18 ({615995}), by mutation in the BBIP1 gene ({613605}) on 10q25; BBS19 ({615996}), by mutation in the IFT27 gene ({615870}) on 22q12; BBS20 ({619471}), by mutation in the IFT172 gene ({607386}) on 9p21; BBS21 ({617406}), by mutation in the CFAP418 gene ({614477}) on 8q22; and BBS22 ({617119}), by mutation in the IFT74 gene ({608040}) on 9p21.\n\nThe CCDC28B gene ({610162}) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; {609884}), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.\n\nAlthough BBS had originally been thought to be a recessive disorder, {33:Katsanis et al. (2001)} demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While {33:Katsanis et al. (2001)} called this 'triallelic inheritance,' {10:Burghes et al. (2001)} suggested the term 'recessive inheritance with a modifier of penetrance.' {47:Mykytyn et al. (2002)} found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, {21:Fan et al. (2004)} found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).\n\nAllelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 ({613464}), caused by TTC8 mutation, and RP55 ({613575}), caused by ARL6 mutation." +209950,"Immunodeficiency-27A results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG ({147570}), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by {1:Al-Muhsen and Casanova, 2008})." +210000,"'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation ({1:Behr, 1909}; {10:Thomas et al., 1984}).\n\nPatients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 ({606580}), result in type III 3-methylglutaconic aciduria (MGCA3; {258501}). {7:Lerman-Sagie (1995)} noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III." +210050,"{1:Kahn et al. (1987)} described 3 brothers in whom idiopathic nonarteriosclerotic cerebral calcification (see {213600}) was combined with cirrhosis, pulmonary emphysema and berry cerebral aneurysms. All were of short stature with delayed development and seizures. One sib died at age 3 years of hepatic failure and portal hypertension. Ruptured cerebral aneurysms led to the death of the other 2 boys at ages 8 and 13 years. Cerebral calcifications symmetrically involved the basal ganglia and thalami, the dentate nucleus, and the cortical and subcortical cerebral areas." +210250,"Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease (summary by {2:Berge et al., 2000}).\n\n<Subhead> Genetic Heterogeneity of Sitosterolemia\n\nAlso see sitosterolemia-2 (STSL2; {618666}), caused by mutation in the ABCG5 gene ({605459})." +210350,"The features of this syndrome, which resembles the Bardet-Biedl syndrome ({209900}), are iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly. The 3 brothers described by {2:Blumel and Kniker (1959)} as having the Laurence-Moon-Bardet-Biedl syndrome may have had this condition. Hydrocephalus and hypospadias were also present. Irregular autosomal dominant inheritance is suggested by the segregation of iris coloboma for 4 generations in the family reported by {3:Grebe (1953)} and by the occurrence of postaxial polydactyly of the toes in the father and a paternal aunt of the sibs described by {2:Blumel and Kniker (1959)}.\n\n{4:Verloes et al. (1997)} proposed a new nosology for the so-called Biemond syndrome type 2 (BS2). They suggested that purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome (see {209901}) with fortuitous coloboma or aniridia; (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report; (3) a 'new' dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation ({601794}), which {4:Verloes et al. (1997)} described in their report; (4) a cytogenetically proven Rubinstein-Taybi syndrome ({180849}) in 1 case; (5) an unclassifiable, early lethal familial syndrome resembling Buntinx-Majewski syndrome (see {249620}); and (6) a 'new' coloboma-zygodactyly-clefting syndrome. A chromosomal anomaly was suspected in the last 2 syndromes." +210370,"Bietti crystalline corneoretinal dystrophy is an autosomal recessive retinal dystrophy characterized by numerous tiny glistening yellow-white crystals at the posterior pole of the retina, associated with atrophy of the retinal pigment epithelium (RPE), pigment clumps, and choroidal sclerosis. Most cases have similar crystals at the corneoscleral limbus. The disorder is progressive; most patients develop decreased vision, nyctalopia, and paracentral scotomata between the second and fourth decades of life. Patients later develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the fifth or sixth decade of life. In a series of European patients diagnosed with nonsyndromic retinitis pigmentosa (RP; see {268000}), BCD accounted for approximately 3% of all nonsyndromic RP and 10% of nonsyndromic autosomal recessive RP. Histopathology shows advanced panchorioretinal atrophy, with crystals and complex lipid inclusions seen in choroidal fibroblasts, corneal keratocytes, and conjunctival and skin fibroblasts, as well as in circulating lymphocytes, suggesting that BCD may result from a systemic abnormality of lipid metabolism (summary by {11:Li et al., 2004})." +210500,"Biliary atresia is a disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic failure ({1:Bates et al., 1998}). Most patients require liver transplantation within the first year of life ({9:Leyva-Vega et al., 2010}).\n\nSee also Alagille syndrome ({118450}), which includes biliary atresia as a feature." +210550,"Lutz-Richner and Landolt (l973) described 2 male sibs with second-cousin parents and an identical syndrome leading to death at the age of about 4 months. Features were extrahepatic and intrahepatic biliary hyperplasia, tubular renal failure with generalized nonspecific amino aciduria, proteinuria, glycosuria and chronic metabolic acidosis, failure to thrive, and predisposition to infections. {2:Mikati et al. (1984)} also reported the cases of 2 brothers with proximal renal tubular insufficiency, cholestatic jaundice, predisposition to infection, and multiple congenital anomalies. They presented early in the neonatal period with micrognathia, low-set ears, highly arched palate, barrel chest, bilateral simian creases, clubfeet, hip dislocation, hypotonia, conjugated hyperbilirubinemia, and severe failure to thrive. They died at 2 and 4 months of age. Kidney histology was normal except for calcification of some distal tubules. Immunologic studies suggested a defect in polymorphonuclear cell migration and intracellular killing. This could, of course, be X-linked recessive. The association of renal tubular insufficiency (manifested by proteinuria, hematuria, hyperchloremic acidosis, low tubular reabsorption of phosphate, low specific gravity of urine), arthrogryposis (clubfoot, contractures of hips and knees), and biliary abnormalities (cholestatic jaundice, hepatomegaly) was reported also by {3:Papadia et al. (1996)} in 2 brothers born of nonconsanguineous parents. Hepatic scintigraphy in both brothers revealed no evident intra- or extrahepatic bile ducts, consistent with the diagnosis of bile duct atresia. Liver biopsy in 1 brother showed paucity and hypoplasia of the bile ducts; biopsy was not possible in the other brother." +210600,"Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance ({19:Shanske et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Seckel Syndrome\n\nOther forms of Seckel syndrome include SCKL2 ({606744}), caused by mutation in the RBBP8 gene ({604124}) on chromosome 18q11; SCKL4 ({613676}), caused by mutation in the CENPJ gene ({609279}) on chromosome 13q12; SCKL5 ({613823}), caused by mutation in the CEP152 gene ({613529}) on chromosome 15q21; SCKL6 ({614728}), caused by mutation in the CEP63 gene ({614724}) on chromosome 3q22; SCKL7 ({614851}), caused by mutation in the NIN gene ({608684}) on chromosome 14q22; SCKL8 ({615807}), caused by mutation in the DNA2 gene ({601810}) on chromosome 10q21; SCKL9 ({616777}), caused by mutation in the TRAIP gene ({605958}) on chromosome 3p21; and SCKL10 ({617253}), caused by mutation in the NSMCE2 gene ({617246}) on chromosome 8q24.\n\nThe report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by {10:Kilinc et al. (2003)} was found to be in error; see History section." +210710,"Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by {17:Pierce and Morse, 2012})." +210720,"Microcephalic osteodysplastic primordial dwarfism type II is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (see {210600}) by more severe growth retardation, radiologic abnormalities, and absent or mild mental retardation (summary by {29:Willems et al., 2010})." +210900,"Bloom syndrome (BLM) is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability.\n\n<Subhead> Genetic Heterogeneity of Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange\n\nSee also MGRISCE2 ({618097}), caused by mutation in the TOP3A gene ({601243}) on chromosome 17p12." +211000,"Hypercalcemia and nephrocalcinosis are associated with a defect in the intestinal transport of tryptophan. Bacterial degradation of the tryptophan leads to excessive indole production and thus to indicanuria which, on oxidation to indigo blue, causes a peculiar bluish discoloration of the diaper. {1:Drummond et al. (1964)} reported 2 affected brothers. Although almost certainly recessive, the disorder could be X-linked. {2:Libit et al. (1972)} suggested that the blue diaper syndrome can result from blue-green discoloration of the stools by a pigment elaborated by Pseudomonas aeruginosa." +211355,"{1:Moore et al. (1993)} presented the cases of a sister and brother with asymmetric and symmetric long bone bowing, respectively, 'beaten metal' appearance of the skull, dolichomacrocephaly, and ocular hypertelorism. Congenital bowing of the long bones occurs in a number of bone dysplasias, including campomelic dysplasia ({114290}), kyphomelic dysplasia ({211350}), hypophosphatasia ({241500}), Grant syndrome ({138930}), and osteogenesis imperfecta congenita ({166210}); however, {1:Moore et al. (1993)} were unable to identify a syndrome that fitted the condition found in these sibs." +211369,"{1:Graham (1989)} described a brother and sister born to unaffected second-cousin parents who had hypoplastic thumbs and halluces with bulbous tips, short index fingers with absent middle phalanges and clinodactyly of the second toes (type A2 brachydactyly). In addition, they had microcephaly. The brother, at 13 years of age, manifested a seizure disorder with generalized spike-wave discharges by EEG; he also had diabetes mellitus which was controlled by diet." +211370,"{1:Tuomaala and Haapanen (1968)} described a Finnish family in which 2 sisters and a brother had an identical syndrome of congenital anodontia, small maxilla giving an impression of mandibular prognathism, short stature with particular shortening of the metacarpals and metatarsals, little hair growth, albinoidism, and multiple ocular abnormalities including strabismus, nystagmus, distichiasis, lenticular opacities, and high-grade myopia. The parents were not known to be related but came from the same parish in northeast Finland." +211380,"The core phenotype of Elsahy-Waters syndrome consists of brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. Skin wrinkling over the glabellar region seems common, and in males, hypospadias has always been present. Inter- and intrafamilial variability has been reported regarding the presence of vertebral fusions, hearing loss, and dentigerous cysts. Midface hypoplasia, facial asymmetry, progressive dental anomalies, and impaired cognitive development become more evident in adulthood (summary by {3:Castori et al., 2010})." +211390,"The principal features of Sabinas brittle hair syndrome, a form of nonphotosensitive trichothiodystrophy (TTDN; see {234050}), include congenital hypotrichosis, mild to moderate onychodysplasia, varying mental retardation, and sterility. Ocular dysplasias are sometimes present and dentition is normal ({3:Howell et al., 1980})." +211450,"Williams-Campbell syndrome is a congenital disorder characterized by severe bronchiectasis and recurrent pulmonary infections caused by a cartilage abnormality involving the 4th-6th order subsegmental bronchi. It typically presents in infancy or childhood with symptoms of coughing, wheezing, and dyspnea. Imaging reveals normal central airways with severe bilateral cystic bronchiectasis in the subsegmental bronchi, often associated with bronchial wall thickening, mucous plugging, and bronchomalacia. During dynamic imaging, the abnormal bronchi will demonstrate ballooning on inspiratory imaging and collapse/air-trapping on expiratory imaging (summary by {3:Marini et al., 2017})." +211480,"Buerger disease is occasionally observed in brothers ({6:Samuel, 1932}; {4:McKusick and Harris, 1961}) or in father and son (McKusick, unpublished observations). It also has a high frequency in some ethnic groups, e.g., Japanese and Koreans ({4:McKusick and Harris, 1961}). {2:De Moerloose et al. (1979)} found a deficiency of HLA-B12 in patients with Buerger disease (2.2% vs 28% in controls). {1:Adar et al. (1983)} presented evidence for cellular sensitivity to collagen in Buerger disease. This disorder may, like other autoimmune diseases, have a genetic predisposition without a direct 'cause' by a mutant gene.\n\n{5:Olin (2000)} suggested that tobacco use plays a central role in the initiation and progression of Buerger disease.\n\n{3:Diehm and Stammler (2001)} suggested that in addition to tobacco use, hyperhomocysteinemia (see {603174}) may be an important factor in Buerger disease." +211500,"Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by {2:Bosch et al., 2011})." +211530,"Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; {105400}). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by {6:Green et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome\n\nSee also BVVLS2 ({614707}), caused by mutation in the SLC52A2 gene ({607882}) on chromosome 8q." +211600,"Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood ({1:Alonso et al., 1994}; {38:Whitington et al., 1994}; {22:Klomp et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Progressive Familial Intrahepatic Cholestasis\n\nPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 ({601847}), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11; {603201}) on chromosome 2q24; PFIC3 ({602347}), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4; {171060}) on chromosome 7q21; PFIC4 ({615878}), caused by mutation in the TJP2 gene ({607709}) on chromosome 9q12; PFIC5 ({617049}), caused by mutation in the NR1H4 gene ({603826}) on chromosome 12q23; PFIC6 ({619484}), caused by mutation in the SLC51A gene ({612084}) on chromosome 3q29; PFIC7 ({619658}), caused by mutation in the USP53 gene ({617431}) on chromosome 4q26; PFIC8 ({619662}), caused by mutation in the KIF12 gene ({611278}) on chromosome 9q32; PFIC9 ({619849}), caused by mutation in the ZFYVE19 gene ({619635}) on chromosome 15q15; PFIC10 ({619868}), caused by mutation in the MYO5B gene ({606540}) on chromosome 18q21; and PFIC11 ({619874}), caused by mutation in the SEMA7A gene ({607961}) on chromosome 15q24.\n\nPFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels ({33:Sambrotta et al., 2014}). PFIC5 is associated with low to normal GGT levels. PFIC8 and PFIC9 are associated with high GGT levels.\n\nThere are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 ({607765})." +211750,"The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears (summary by {11:Kaname et al., 2007}).\n\nC syndrome shows phenotypic overlap with Bohring-Opitz syndrome, or C-like syndrome ({605039}), a disorder with more severe features than C syndrome, caused by heterozygous mutation in the ASXL1 gene ({612990}) on chromosome 20q11." +211770,"{1:Temtamy and Sinbawy (1991)} studied an Egyptian boy and girl, the offspring of unaffected first-cousin parents, who had congenital lamellar cataracts and generalized hypertrichosis dating from birth, mainly on the back, shoulders, and sides of the face." +211800,"Adult-onset calcification of the lower extremity arteries, including the iliac, femoral, and tibial arteries, and hand and foot capsule joints is an autosomal recessive condition that represents only the second mendelian disorder of isolated calcification (see generalized arterial calcification of infancy (GACI), {208000}). Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands ({3:St. Hilaire et al., 2011})." +211900,"Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone ({9:Chefetz et al., 2005}). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 ({605380}) or GALNT3 gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement ({15:Frishberg et al., 2005}), {23:Ichikawa et al. (2010)} concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.\n\nHFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; {193100}), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption ({9:Chefetz et al., 2005}; {26:Ichikawa et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Hyperphosphatemic Familial Tumoral Calcinosis\n\nAlso see HFTC2 ({617993}), caused by mutation in the FGF23 gene ({605380}) on chromosome 12p13, and HFTC3 ({617994}), caused by mutation in the KL gene ({604824}) on chromosome 13q13. Most cases are caused by mutation in the GALNT3 gene." +211910,"{1:Cantu et al. (1980)} described 2 sisters, aged 18 and 11 years, with intrauterine growth retardation and camptodactyly as a leading feature. They were 142 and 126 cm tall, respectively. Epicanthus, broad nasal bridge, flat face, depressed lower sternum, twelfth rib hypoplasia, fibular hypoplasia, and hallux valgus were other features. The parents were not demonstrably consanguineous but their forebears had lived in the same small village for several generations. {2:Figuera et al. (1993)} corroborated and further delineated this syndrome on the basis of 3 sibs from a Mexican family: 2 girls, aged 18 and 9 years, and a 7-year-old boy. They had intrauterine growth retardation, dwarfism, peculiar facial appearance, camptodactyly, and skeletal anomalies. The parents were related as half third cousins. The family was from the same region as the one earlier reported. All 5 reported patients had brachycephaly, microcephaly, flat facies, epicanthal folds, and telecanthus, as well as small, downturned mouth, dental malocclusion, hallux valgus, and pectus carinatum/excavatum.\n\nIn 2 Brazilian brothers born to consanguineous parents, {5:Richieri-Costa et al. (1994)} reported a seemingly 'new' syndrome characterized by thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachycamptodactyly, and sacral dimple. The older boy was found to have megacolon at the age of 2 years but surgical intervention was not necessary. Both brothers had seizures. {5:Richieri-Costa et al. (1994)} referred to the condition as faciothoracoskeletal syndrome.\n\n{3:Ramirez-Duenas and Cantu (1995)} suggested, and {4:Richieri-Costa (1995)} agreed, that the entity named faciothoracoskeletal syndrome is the same as Guadalajara camptodactyly syndrome type I.\n\n{6:Zechi-Ceide et al. (2002)} reported a Brazilian female with a thin/long face, blepharophimosis, minor auricular anomalies, camptodactyly, and thoracic and spinal anomalies. The authors considered the clinical features in this patient to be consistent with the diagnosis of Guadalajara camptodactyly syndrome type I.\n\nAlso see Guadalajara camptodactyly syndrome type II ({211920}) and type III ({611929})." +211965,"{1:Baraitser et al. (1983)} described brother and sister with distal arthrogryposis presenting as windmill-vane hand, facial immobility, and generalized ichthyosis." +211980,"Lung cancer is the leading cause of cancer deaths in the U.S. and worldwide. The 2 major forms of lung cancer are nonsmall cell lung cancer and small cell lung cancer (see {182280}), which account for 85% and 15% of all lung cancers, respectively. Nonsmall cell lung cancer can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. Cigarette smoking causes all types of lung cancer, but it is most strongly linked with small cell lung cancer and squamous cell carcinoma. Adenocarcinoma is the most common type in patients who have never smoked. Nonsmall cell lung cancer is often diagnosed at an advanced stage and has a poor prognosis (summary by {20:Herbst et al., 2008})." +212060,"{4:Ritchie et al. (1986)} observed wide variability in the amounts of total phenolic metabolites of debrisoquine ({124030}) excreted among subjects. There was none detectable in some persons (of either extensive or poor metabolizer phenotypes; see {608902}), whereas in others, 15 to 20% of dose was excreted in the phenolic form. {4:Ritchie et al. (1986)} described 2 sisters who developed hematotoxicity from carbimazole, an antithyroid drug, administered in usual dosage. Both sisters had very high levels of excreted phenolic derivatives of debrisoquine when tested for metabolism of that substance. It may be that this is a polymorphism of carbimazole (and debrisoquine) metabolism independent of the polymorphism of 4-hydroxylation of debrisoquine. The 2 sisters developed agranulocytosis after taking carbimazole for 17 and 24 days, respectively. The hematotoxicity is thought to be due to the thiourea moiety that it contains. Metabolic oxidation of the thiourea group can result in production of highly reactive and, hence, toxic metabolites that may bind to cellular macromolecules. The enhanced ability to form phenolic metabolites of debrisoquine may reflect an unusual oxidative pathway which also results in hematotoxic metabolites of carbimazole. {4:Ritchie et al. (1986)} also studied phenolic metabolites of debrisoquine in 43 control subjects and in 6 blood relatives of the sisters. The findings suggested the existence of 3 genotype groups with appreciable overlap.\n\nPrenatal exposure to methimazole, the active metabolite of carbimazole which is used in the treatment of maternal Graves disease ({275000}), has been associated with scalp defects and aplasia cutis congenita ({107600}) ({3:Martin-Denavit et al., 2000}). {2:Greenberg (1987)} and {5:Wilson et al. (1998)} described choanal atresia ({608911}) and hypoplastic nipples (see {113700}) after prenatal exposure to methimazole. {1:Barbero et al. (2004)} described 3 patients with choanal atresia whose mothers received methimazole during pregnancy for the treatment of thyrotoxicosis (Graves disease; Hashimoto thyroiditis, {140300})." +212065,"Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity, among others. CDGs are divided into 2 main groups: type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs (see, e.g., CDG2A, {212066}) refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. CDG1A is the most common form of CDG and was the first to be characterized at the molecular level (reviews by {40:Marquardt and Denecke, 2003}; {22:Grunewald et al., 2002}).\n\n{46:Matthijs et al. (1997)} noted that Jaeken syndrome (CDG1A) is a genetic multisystem disorder characterized by defective glycosylation of glycoconjugates. It usually presents as a severe disorder in the neonatal period. There is a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. There is a 20% lethality in the first year of life due to severe infections, liver insufficiency, or cardiomyopathy.\n\n{41:Marques-da-Silva et al. (2017)} noted that CDG1A is the most prevalent form of CDG, with more than 700 patients reported worldwide.\n\n<Subhead> Genetic Heterogeneity of Congenital Disorder of Glycosylation Type I\n\nMultiple forms of CDG type I have been identified; see CDG1B ({602579}) through CDG1Y ({300934}) and CDG1AA ({617082}) through CDG1CC (see {301031}).\n\nA congenital disorder of deglycosylation (CDDG; {615273}), formerly designated CDG1V, is caused by mutation in the NGLY1 gene ({610661}).\n\nA disorder formerly designated CDG1Z has been classified as a form of developmental and epileptic encephalopathy (DEE50; {616457})." +212066,"Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity, among others. CDGs are divided into 2 main groups: type I CDGs (see, e.g., CDG1A, {212065}) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. The biochemical changes of CDGs are most readily observed in serum transferrin (TF; {190000}), and the diagnosis is usually made by isoelectric focusing of this glycoprotein (reviews by {10:Marquardt and Denecke, 2003}; {6:Grunewald et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Congenital Disorder of Glycosylation Type II\n\nMultiple forms of CDG type II have been identified; see CDG2B ({606056}) through CDG2W ({619525})." +212067,"Congenital disorders of glycosylation (CDGs) are divided into 2 main groups: type I CDGs (see, e.g., {212065}) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs (see, e.g., {212066}) refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. Conventionally, untyped and unclassified cases are labeled 'CDG-x' ({7:Orlean, 2000}; {5:Marquardt and Denecke, 2003}).\n\nThe phenotypes described in this entry most likely do not represent a single disorder, but have been referred by the authors as CDG-x and are included here pending further molecular characterization. In a review of CDGs, {5:Marquardt and Denecke (2003)} stated that more than 20% of CDG patients identified still cannot be ascribed to a known enzyme defect and are thus named CDG-x." +212090,"{1:Nordenberg et al. (1989)} reported 2 sisters with secundum type atrial septal defect, perimembranous ventricular septal defect, and coarctation of the aorta. The parents were both French Canadian but no consanguinity was known." +212100,A 'new' cardioauditory syndrome was found in 12 deaf children by {1:Sanchez-Cascos et al. (1969)}. All but 2 had x-ray evidence of left ventricular hypertrophy. Most had electrocardiographic changes of biventricular hypertrophy and showed a high proportion of whorls in the dermatoglyphs. One of the 12 was a girl. One of the parental pairs was consanguineous. Six of the 12 were in 3 sibships. +212130,{1:Fried et al. (1979)} described a Sephardic kindred in which several children had died in the second year of life. The proband showed asymmetric septal hypertrophy by echocardiography. A mild and often subclinical myopathy was present. The affected children were in 2 sibships and both sets of parents were first cousins. On echocardiography 1 of the 4 parents had findings consistent with asymmetric septal hypertrophy. +212135,"In 2 male offspring of Kuwaiti first-cousins, {1:Reardon et al. (1990)} described congenital heart malformation and skeletal dysplasia, including coronal clefting of the vertebral bodies and short limbs. They found no report of an entirely similar case." +212138,"Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. However, presentations at a later age with a milder phenotype have been reported (summary by {15:Rubio-Gozalbo et al., 2004})." +212140,"Primary systemic carnitine deficiency is due to a defect in the high-affinity carnitine transporter expressed in muscle, heart, kidney, lymphoblasts, and fibroblasts. This results in impaired fatty acid oxidation in skeletal and heart muscle. In addition, renal wasting of carnitine results in low serum levels and diminished hepatic uptake of carnitine by passive diffusion, which impairs ketogenesis ({20:Lamhonwah et al., 2002}). If diagnosed early, all clinical manifestations of the disorder can be completely reversed by supplementation of carnitine. However, if left untreated, patients will develop lethal heart failure (summary by {34:Shibbani et al., 2014}).\n\nSee also myopathic carnitine deficiency ({212160}), which is restricted to skeletal muscle." +212160,"Carnitine (beta-hydroxy-gamma-trimethylaminobutyric acid) is an essential cofactor for transport of long chain fatty acids across mitochondrial membranes, permitting beta-oxidation. Carnitine in body fluids is derived from the diet or biosynthesis and is actively transported into muscle. Two biochemically and clinically distinct disorders cause low concentrations of carnitine in skeletal muscle. Systemic carnitine deficiency ({212140}) shows low carnitine in the liver and/or plasma. In muscle carnitine deficiency, lipid storage myopathy occurs with low muscle carnitine but normal liver and serum carnitine. Cases were reported by {5:Engel and Angelini (1973)}, {8:Markesbery et al. (1974)}, {13:VanDyke et al. (1975)}, and others. In the patient reported by {5:Engel and Angelini (1973)}, addition of carnitine to muscle homogenate repaired fatty acid oxidation, suggesting that carnitine transport into muscle was impaired. {7:Hosking et al. (1977)} reported benefit of oral carnitine therapy. In the patient reported by {14:Willner et al. (1979)}, carnitine treatment did not repair the defect and transport of carnitine into muscle was normal. This and some other patients with lipid storage myopathy responded to corticosteroids. {13:VanDyke et al. (1975)} found reduced levels of muscle carnitine in both parents of an 8-year-old boy with this disorder, thus supporting autosomal recessive inheritance. See {255100}." +212350,"Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy (summary by {7:Mayr et al., 2012}). Skeletal muscle biopsies of 2 affected individuals showed severe mtDNA depletion ({1:Calvo et al., 2012})." +212360,"Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. Nail changes occur in some patients ({2:Castori et al., 2010}).\n\nAlso see PPKCA1 ({104100}), a less severe, autosomal dominant disorder." +212500,"Juvenile-onset cataract-46 with or without arrhythmic cardiomyopathy (CRCT46) is characterized by onset of cataract in the first decades of life, associated with variable onset of a severe form of arrhythmic cardiomyopathy, with mild impairment of left ventricular systolic function but severe ventricular arrhythmias resulting in sudden cardiac death. Affected individuals are descendants of the Hutterite founder population ({1:Abdelfatah et al., 2019})." +212710,"{1:Begeer et al. (1991)} described 2 sisters in their 50s who had mild mental retardation from birth and were born with congenital cataract for which surgery had been performed. Both sisters had onset of progressive sensorineural deafness in the third decade. They were of short stature (height, 1.55 m and 1.52 m). Ataxia, attributed mainly to impairment of the proprioceptive system, was present in both. Other signs of polyneuropathy included absent deep tendon reflexes and diminished sensation distally. {1:Begeer et al. (1991)} concluded that this syndrome is distinct from the ataxia-deafness-retardation syndrome (ADR syndrome; {208850}) because of the presence of congenital cataract and the later onset of hearing loss and ataxia, which start in infancy in the ADR syndrome." +212720,"Martsolf syndrome (MARTS) is characterized by congenital cataracts, hypogonadism, and impaired intellectual development ({2:Aligianis et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Martsolf Syndrome\n\nMartsolf syndrome-2 (MARTS2; {619420}) is caused by mutation in the RAB3GAP1 gene ({602536}) on chromosome 2q21." +212750,"Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by {19:Farrell and Kelly, 2002}). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children ({55:Monsuur et al., 2005}).\n\nFor a discussion of genetic heterogeneity of celiac disease, see MAPPING." +212800,"{1:Baar and Hickmans (1956)} reported on a brother and sister with mental retardation and slow deterioration, marked splenomegaly with absence of glandular involvement or bone changes, and death at 4 and 6 years. The reticuloendothelial cells of the liver and spleen and the nerve cells of the cerebral cortex and spinal cord showed extensive lipid deposition. The lipid was identified as inosamine phosphatide. No similar cases had been previously reported. The putative identification of inosamine is dubious ({2:Brady, 1978}); hence, the nature of the disorder in these sibs is uncertain." +212840,"Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism (summary by {7:Santens et al., 2015})." +212850,{1:Schimke (1974)} described 3 brothers and a sister with adult-onset cerebellar ataxia and neurosensory deafness. Autosomal dominant cataract was segregating apparently independently in the kindred. All the affected persons required correction for pes cavus before development of ataxia. +213000,"Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia and developmental delay with subsequent impaired intellectual development and severe speech delay. In childhood, affected individuals show delayed walking and develop epilepsy that is usually controlled by medication. Brain imaging shows cerebellar hypoplasia/atrophy (summary by {8:Wang et al., 2019})." +213010,"{3:Lowry (1983)} discussed the overlap of the Smith-Lemli-Opitz syndrome ({270400}) and the Meckel syndrome ({249000}). The 2 syndromes had apparently not been seen together in the same sibship until the report by {1:Casamassima et al. (1987)}. These workers described a new syndrome in 3 members of 1 sibship: in the first 2 children the disorder resembled the Smith-Lemli-Opitz syndrome and in the third it resembled the Meckel syndrome. In addition, all 3 children had cerebellar defects similar to those described in the Joubert syndrome ({213300}). The affected children were 2 sisters and a brother with nonconsanguineous parents of mixed European ancestry. The patients were the second, fifth, and seventh pregnancies of this couple. The third patient, whose condition resembled Meckel syndrome, had a large occipital meningoencephalocele, postaxial hexadactyly, immature glomeruli and dilated collecting ducts in the kidney, and periportal fibrosis and bile duct accentuation in the liver. The first child died at age 18 months, the second at age 2 days; both showed absence of the cerebellar vermis. {6:Thompson and Baraitser (1987)} suggested that the disorder reported by {5:Thompson and Baraitser (1986)} and by {2:Hunter et al. (1974)} is the same condition and that 'for the time being at least, it should be considered an entity separate from either Smith-Lemli-Opitz or the Meckel syndromes.'" +213200,"Autosomal recessive spinocerebellar ataxia-2 is an neurologic disorder characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability. Brain imaging shows cerebellar atrophy. Overall, the disorder is non- or slowly progressive, with survival into adulthood (summary by {5:Jobling et al., 2015})." +213300,"Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies ({25:Saraiva and Baraitser, 1992}; {29:Valente et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Joubert Syndrome\n\nSee also JBTS2 ({608091}), caused by mutation in the TMEM216 gene ({613277}) on chromosome 11q13; JBTS3 ({608629}), caused by mutation in the AHI1 gene ({608894}) on chromosome 6q23; JBTS4 ({609583}), caused by mutation in the NPHP1 gene ({607100}) on chromosome 2q13; JBTS5 ({610188}), caused by mutation in the CEP290 gene, also called NPHP6 ({610142}), on chromosome 12q21; JBTS6 ({610688}), caused by mutation in the TMEM67 gene ({609884}) on chromosome 8q21; JBTS7 ({611560}), caused by mutation in the RPGRIP1L gene ({610937}) on chromosome 16q12; JBTS8 ({612291}), caused by mutation in the ARL13B ({608922}) on chromosome 3q11; JBTS9 ({612285}), caused by mutation in the CC2D2A gene ({612013}) on chromosome 4p15; JBTS10 ({300804}), caused by mutation in the CXORF5 gene ({300170}) on chromosome Xp22; JBTS11 (see {613820}), caused by mutation in the TTC21B gene ({612014}) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene ({611254}) on chromosome 15q26; JBTS13 ({614173}), caused by mutation in the TCTN1 gene ({609863}) on chromosome 12q24; JBTS14 ({614424}), caused by mutation in the TMEM237 gene ({614423}) on chromosome 2q33; JBTS15 ({614464}), caused by mutation in the CEP41 gene ({610523}) on chromosome 7q32; JBTS16 ({614465}), caused by mutation in the TMEM138 gene ({614459}) on chromosome 11q; JBTS17 ({614615}), caused by mutation in the C5ORF42 gene ({614571}) on chromosome 5p13; JBTS18 ({614815}), caused by mutation in the TCTN3 gene ({613847}) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene ({604577}) on chromosome 16q12; JBTS20 ({614970}), caused by mutation in the TMEM231 gene ({614949}) on chromosome 16q23; JBTS21 ({615636}), caused by mutation in the CSPP1 gene ({611654}) on chromosome 8q13; JBTS22 ({615665}), caused by mutation in the PDE6D gene ({602676}) on chromosome 2q37; JBTS23 ({616490}), caused by mutation in the KIAA0586 gene ({610178}) on chromosome 14q23; JBTS24 ({616654}), caused by mutation in the TCTN2 gene ({613846}) on chromosome 12q24; JBTS25 ({616781}), caused by mutation in the CEP104 gene ({616690}) on chromosome 1p36; JBTS26 ({616784}), caused by mutation in the KATNIP gene ({616650}) on chromosome 16p12; JBTS27 ({617120}), caused by mutation in the B9D1 gene ({614144}) on chromosome 17p11; JBTS28 ({617121}), caused by mutation in the MKS1 gene ({609883}) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene ({616183}) on chromosome 17p13; JBTS30 ({617622}), caused by mutation in the ARMC9 gene ({617612}) on chromosome 2q37; JBTS31 ({617761}), caused by mutation in the CEP120 gene ({613446}) on chromosome 5q23; JBTS32 ({617757}), caused by mutation in the SUFU gene ({607035}) on chromosome 10q24; JBTS33 ({617767}), caused by mutation in the PIBF1 gene ({607532}) on chromosome 13q21; JBTS34 (see {614175}), caused by mutation in the B9D2 gene ({611951}) on chromosome 19q13; JBTS35 ({618161}), caused by mutation in the ARL3 gene ({604695}) on chromosome 10q24; JBTS36 ({618763}), caused by mutation in the FAM149B1 gene ({618413}) on chromosome 10q22; JBTS37 ({619185}), caused by mutation in the TOGARAM1 gene ({617618}) on chromosome 14q21; JBTS38 ({619476}), caused by mutation in the KIAA0753 gene ({617112}) on chromosome 17p13; and JBTS39 ({619562}), caused by mutation in the TMEM218 gene ({619285}) on chromosome 11q24." +213500,"{1:Richard et al. (1965)} studied the brain of 18 members of 8 families in which 1 member had histologically confirmed angiopathy. Of 6 sibships studied, 5 had more than one affected sib. Parent-child pairs were studied but in no instance were both involved. This condition, described by Oppenheim, is characterized by arteriolocapillary degeneration, particularly in the occipital cortex and the calcarine area." +213600,"Familial idiopathic basal ganglia calcification is an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase, and parathyroid hormone are normal. The typical age at clinical onset is between 30 and 50 years (summary by {45:Wang et al., 2012}).\n\nCalcification of the basal ganglia is a nonspecific finding in many medical conditions, including infectious, metabolic, and genetic syndromes. In addition, calcification of the basal ganglia is observed as an incidental finding in approximately 0.7 to 1.2% of CT scans ({24:Koller et al., 1979}; {20:Harrington et al., 1981}; {14:Forstl et al., 1992}). These incidental calcifications are usually benign and have no clear etiology, especially in patients over 60 years of age ({17:Geschwind et al., 1999}). {14:Forstl et al. (1992)} found no increased risk for dementia, cerebral infarction, seizures, alcoholism, vertigo, or headache in 166 patients with calcification of the basal ganglia compared to 622 individuals without calcification.\n\n<Subhead> Genetic Heterogeneity of Idiopathic Basal Ganglia Calcification\n\nSee IBGC4 ({615007}), caused by mutation in the PDGFRB gene ({173410}) on 5q32; IBGC5 ({615483}), caused by mutation in the PDGFB gene ({190040}) on 22q13; IBGC6 ({616413}), caused by mutation in the XPR1 gene ({605237}) on 1q25; IBGC7 ({618317}), caused by mutation in the MYORG gene ({618255}) on 9p13; and IBGC8 ({618824}), caused by mutation in the JAM2 gene ({606870}) on 21q21.\n\nSee {114100} for a childhood-onset form of idiopathic basal ganglia calcification.\n\nThe symbol IBGC3 previously referred to the locus on chromosome 8p11 that includes the SLC20A2 gene ({8:Dai et al., 2010}). However, the family that originally defined the putative IBGC1 locus on chromosome 14q ({17:Geschwind et al., 1999}) was later found to carry a pathogenic mutation in the SLC20A2 gene ({21:Hsu et al., 2013}), and the IBGC locus on chromosome 14q has not been replicated ({37:Oliveira et al., 2004}; {21:Hsu et al., 2013}). Thus, the symbol IBGC1 now refers to the disorder caused by mutation in the SLC20A2 gene on chromosome 8p11 and the symbol IBGC3 is no longer used. In addition, the symbol IBGC2 was previously used for a form of IBGC erroneously mapped to 2q37; the family in which this linkage was reported by {43:Volpato et al. (2009)} was later found by {18:Grutz et al. (2016)} to have a mutation in the SLC20A2 gene and thus to have IBGC1." +213700,"Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. Cholestanol, the 5-alpha-dihydro derivative of cholesterol, is enriched relative to cholesterol in all tissues. The diagnosis can be made by demonstrating cholestanol in abnormal amounts in the serum and tendon of persons suspected of being affected. Plasma cholesterol concentrations are low normal in CTX patients.\n\n{10:Dotti et al. (2001)} examined the ophthalmologic findings of 13 CTX patients. In addition to cataracts, which were found in all cases, optic disc pallor was identified in 6 of the patients. Premature retinal senescence was also observed.\n\nIn a tabular presentation, {22:Moghadasian et al. (2002)} compared and contrasted CTX with 2 other lipid disorders with certain similarities and clinical course: familial hypercholesterolemia (see {143890}) and sitosterolemia (see {210250})." +213820,"{1:Muller et al. (1993)} described a brother and sister, the offspring of first-cousin Kurdish parents, with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome consisting of cerebral malformations, seizures, hypertrichosis, distinctive facies, claw hands, and overlapping fingers. Karyotype was normal in both sibs. The brother died in a tonic extension spasm at age 4 months; the sister was alive at age 3.5 months." +213900,"{1:Fahmy et al. (1969)} observed a brother and sister (out of a sibship of 11), offspring of first-cousin parents, with a slowly progressive neurologic disorder that began in early childhood. Electron microscopic studies of sural nerve showed unique rod-shaped bodies in Schwann cells. The clinical picture was similar to that of Pelizaeus-Merzbacher disease ({312080})." +213950,"{2:Laurence and Cavanagh (1968)} described a possibly unique autosomal recessive entity, progressive degeneration of the cerebral cortex in infancy. Atrophy was largely confined to the gray matter of the cerebral cortex and evidence of leukodystrophy or lipidosis was lacking. Two girls in one family, 2 boys in a second, and 1 male in a third were described. In the last case a first cousin once removed may have been affected. Manifestations dated from birth or the first months of life, with complete arrest of development and progression to decerebrate rigidity. The brains showed severe ulegyria with uniformly severe destruction of neurons in the cerebral cortex, astrocyte replacement, and microglial invasion. The authors called attention to a similar disorder in calves in which deficiency of vitamin B1 has been demonstrated ({1:Davies et al., 1965}) and reproduced experimentally in calves ({3:Pill, 1967}). It is entirely plausible that a genetic predisposition to thiamine deficiency might in the developing organism produce lesions limited to the cerebral cortex, unlike the picture of Wernicke encephalopathy of adults (see {277730})." +214100,"Zellweger syndrome is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life (summary by {71:Wanders, 2004}).\n\n'Zellweger syndrome' is the prototype of a large group of peroxisomal disorders, which can be classified into 2 main groups: (1) disorders of peroxisome biogenesis and (2) single peroxisomal enzyme deficiencies (see {264470}). The peroxisome biogenesis disorders (PBDs) fall into 4 main phenotypic classes. Three of them, Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD), have multiple complementation groups and form a spectrum of overlapping features, with the most severe being the Zellweger syndrome and the least severe infantile Refsum disease. The fourth group, rhizomelic chondrodysplasia punctata (RCDP1; {215100}), is a distinct PBD phenotype (summary by {37:Moser et al., 1995}, {71:Wanders, 2004}).\n\nHeimler syndrome, a rare autosomal recessive disorder encompassing sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities, represents a discrete phenotypic entity at the mildest end of the PBD spectrum ({50:Ratbi et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Zellweger Syndrome\n\nZellweger syndrome (denoted by the suffix 'A' in the symbol) is a genetically heterogeneous disorder and can be caused by mutation in any one of several genes, known as pexins, involved in peroxisome biogenesis. The pexin (PEX) genes encode proteins essential for the assembly of functional peroxisomes (summary by {15:Distel et al., 1996}). Forms of Zellweger syndrome include PBD1A, caused by mutation in the PEX1 gene on chromosome 7q21; PBD2A ({214110}), caused by mutation in the PEX5 ({600414}) gene on chromosome 12p13; PBD3A ({614859}), caused by mutation in the PEX12 ({601758}) gene on chromosome 17; PBD4A ({614862}), caused by mutation in the PEX6 ({601498}) gene on chromosome 6p21; PBD5A ({614866}), caused by mutation in the PEX2 ({170993}) gene on chromosome 8q21; PBD6A ({614870}), caused by mutation in the PEX10 ({602859}) gene on chromosome 1p36; PBD7A ({614872}), caused by mutation in the PEX26 ({608666}) gene on chromosome 22q11; PBD8A ({614876}), caused by mutation in the PEX16 ({603360}) gene on chromosome 11p12; PBD10A ({614882}), caused by mutation in the PEX3 ({603164}) gene on chromosome 6q23-q24; PBD11A ({614883}), caused by mutation in the PEX13 ({601789}) gene on chromosome 2p15; PBD12A ({614886}), caused by mutation in the PEX19 ({600279}) gene on chromosome 1q22; and PBD13A ({614887}), caused by mutation in the PEX14 gene ({601791}) on chromosome 1p36.2.\n\nMutation in the pexin genes also causes the less severe phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD); see PBD1B ({601539}) for a phenotypic description and discussion of genetic heterogeneity of these PBDs.\n\nHeimler syndrome-1 (HMLR1; {234580}) and -2 (HMLR2; {616617}) are caused by mutation in the PEX1 and PEX6 genes, respectively.\n\nThe rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; {215100}), and a PBD without rhizomelia (PBD9B; {614879}), are caused by mutation in the PEX7 gene ({601757}) on chromosome 6q22-q24.\n\nIn addition to the defects in peroxisome assembly, {15:Distel et al. (1996)} noted that peroxisomal disorders include a number of single peroxisomal enzyme deficiencies: X-linked adrenoleukodystrophy (ALD; {300100}), acyl-coenzyme A oxidase deficiency ({264470}), DHAPAT deficiency ({222765}), alkyl-DHAP synthase deficiency ({600121}), glutaric aciduria type III ({231690}), classic Refsum disease ({266500}), hyperoxaluria type I ({259900}), and acatalasia ({115500}). A peroxisomal and mitochondrial fission defect results in a lethal encephalopathy (EMPF; {614388})." +214110,"The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}." +214150,"Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by {4:Jaakkola et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Cerebrooculofacioskeletal Syndrome\n\nSee also COFS2 ({610756}), caused by mutation in the ERCC2 gene ({126340}); COFS3 ({616570}), caused by mutation in the ERCC5 gene ({133530}); and COFS4 ({610758}), caused by mutation in the ERCC1 gene ({126380})." +214290,"{1:Nisan et al. (1988)} described agenesis of 5 cervical vertebrae in a 7-year-old son of first-cousin parents. The patient had a webbed neck, and a diagnosis of Klippel-Feil syndrome was made before x-rays were taken." +214300,"Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ({12:Tracy et al., 2004}).\n\n{3:Clarke et al. (1998)} proposed a classification system for KFS in which an autosomal recessive form is characterized by the most rostral fusion at C1 and the presence of severe associated anomalies, including short neck, cardiac defects, and craniofacial anomalies.\n\nFor a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 ({118100})." +214350,"CHAND syndrome is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula (summary by {2:Busa et al., 2017})." +214370,"{1:Cornell et al. (1984)} reported Charcot-Marie-Tooth disease and sensorineural deafness in 3 sons of first-cousin parents of Asiatic Indian descent living in South Africa. Deafness had been recognized in infancy and normal speech never developed. The CMT disease was of a slow nerve conduction type. See {311070} for a syndrome that comprises optic atrophy in addition to nerve deafness and a Charcot-Marie-Tooth-like neuropathy and {118300} for a dominant form of the CMT-deafness syndrome.\n\nThe disorder hereditary motor and sensory neuropathy-Lom (HMSNL; {601455}) has been described in Bulgarian Gypsies who were originally derived from India. The disorder resembles that described by {1:Cornell et al. (1984)} in an Indian family. HMSNL has been mapped to 8q24.\n\n{2:Mancardi et al. (1992)} described 2 brothers with hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of large myelinated fibers. In this family, as in that of {1:Cornell et al. (1984)}, the parents were first cousins. {3:Sabatelli et al. (1998)} reported what appears to be the same disorder in 2 brothers, ages 11 and 13, with an early-onset HMSN, deafness, and mental retardation. Electrophysiologic studies showed marked reduction of motor and sensory conduction velocity and absence of sensory action potentials. Sural nerve biopsy, performed in both patients, showed absence of large myelinated fibers with normal density of small myelinated fibers without axonal degeneration. Signs of demyelination were found only in the younger patient. Parental consanguinity was suspected in their family. {3:Sabatelli et al. (1998)} proposed that this disorder is an autosomal recessive trait, although all reported cases have been males." +214400,"By convention, the designation CMT4 is applied to autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease, which is a peripheral neuropathy characterized by distal motor and sensory impairment resulting in gait difficulties and associated with foot deformities. Motor nerve conduction velocities are decreased, and sural nerve biopsies show loss of myelinated fibers. The age at onset and severity is variable (summary by {10:Patzko and Shy, 2012}).\n\n<Subhead> Genetic Heterogeneity of Charcot-Marie-Tooth Disease Type 4\n\nSeveral different subtypes of autosomal recessive demyelinating CMT (CMT4) have been identified, each with particular ethnic, pathologic, or clinical characteristics: CMT4A; CMT4B, which includes CMT4B1 ({601382}), caused by mutation in the MTMR2 gene ({603557}), CMT4B2 ({604563}), caused by mutation in the SBF2 gene ({607697}), and CMT4B3 ({615284}), caused by mutation in the SBF1 gene ({603560}); CMT4C ({601596}), caused by mutation in the SH3TC2 gene ({608206}); CMT4D ({601455}), caused by mutation in the NDRG1 gene ({605262}); CMT4E ({605253}), caused by mutation in the EGR2 ({129010}) or MPZ ({159440}) genes; CMT4F ({614895}), caused by mutation in the PRX gene ({605725}); CMT4G, or Russe-type hereditary motor and sensory neuropathy, ({605285}), which maps to chromosome 10q23; CMT4H ({609311}), caused by mutation in the FGD4 gene ({611104}); CMT4J ({611228}), caused by mutation in the FIG4 gene ({609390}); and CMT4K ({616684}), caused by mutation in the SURF1 gene ({185620})." +214450,"Griscelli syndrome type 1 (GS1) is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. In addition to the characteristic silvery-gray appearance of hair and pigmentary defects of skin, GS1 is characterized by primary neurologic deficits that usually are apparent in early infancy and include hypotonia, developmental delay, intellectual disability, and seizures. Immune impairment is not present (summary by {1:Abd Elmaksoud et al., 2020}).\n\n{3:Bahadoran et al. (2003)} characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse.\n\n{2:Anikster et al. (2002)}, {9:Menasche et al. (2002)}, {7:Huizing et al. (2002)}, and {4,3:Bahadoran et al. (2003, 2003)} suggested that Elejalde neuroectodermal melanolysosomal syndrome ({256710}) in some patients and GS1 represent the same entity.\n\n<Subhead> Genetic Heterogeneity of Griscelli Syndrome\n\nGriscelli syndrome type 2 (GS2; {607624}), characterized by hypomelanosis with immunologic impairment, is caused by mutation in the RAB27A gene ({603868}). Griscelli syndrome type 3 (GS3; {609227}), characterized by hypomelanosis with no immunologic or neurologic manifestations, is caused by mutation in the melanophilin (MLPH; {606526}) gene." +214700,"Congenital secretory chloride diarrhea is an autosomal recessive form of severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis. The electrolyte disorder resembles the renal disorder Bartter syndrome (see {607364}), except that chloride diarrhea is not associated with calcium level abnormalities (summary by {4:Choi et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Diarrhea\n\nOther forms of diarrhea include DIAR2 ({251850}), caused by mutation in the MYO5B gene ({606540}) on 18q21; DIAR3 ({270420}), caused by mutation in the SPINT2 gene ({605124}) on 19q13; DIAR4 ({610370}), caused by mutation in the NEUROG3 gene ({604882}) on 10q21; DIAR5 ({613217}), caused by mutation in the EPCAM gene ({185535}) on 2p21; DIAR6 ({614616}), caused by mutation in the GUCY2C gene ({601330}) on 12p12; DIAR7 ({615863}) caused by mutation in the DGAT1 gene ({604900}) on 8q24; DIAR8 ({616868}), caused by mutation in the SLC9A3 gene ({182307}) on 5p15; DIAR9 ({618168}), caused by mutation in the WNT2B gene ({601968}) on 1p13; DIAR10 ({618183}), caused by mutation in the PLVAP gene ({607647}) on 19p13; DIAR11 ({618662}), caused by deletion of the intestine critical region (ICR) on chromosome 16p13, resulting in loss of expression of the flanking gene PERCC1 ({618656}); and DIAR12 ({619445}), caused by mutation in the STX3 gene ({600876}) on 11q12." +214800,"CHARGE syndrome is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina (summary by {29:Kallen et al., 1999})." +214980,"{1:Schubert et al. (1976)} reported a case of congenital cholestasis, radiopaque gallstone and cerebellar ataxia. {2:Tazawa and Konno (1982)} reported the cases of infant son and daughter of first-cousin parents. The boy was first noted to be jaundiced at age 4 months and died at age 4 years. In the girl, jaundice was first noted at age 5 days. Liver biopsy at age 2 months showed giant cell hepatitis with marked cholestasis. A gallstone was removed surgically at age 3 years, the same age at which ataxia was first noted. Bilateral ptosis developed at age 10. Retinal lesions and optic atrophy started in infancy. Camptodactyly became prominent with age. Jaundice was intermittent but pruritus persisted during anicteric stages. The last observations were made at age 12. It is not clear that this is distinct from Byler disease ({211600}) or another form of intrahepatic cholestasis described elsewhere. The retinal and neurologic features may have been secondary to nutritional abnormalities." +215030,"{1:Pelz et al. (1972)} described cholesterol pneumonia in brother and sister, who died at 9.5 and 4 months, respectively. Tachypnea, cough and cyanosis were symptoms." +215045,"Blomstrand chondrodysplasia is an autosomal recessive disorder characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation (summary by {5:Loshkajian et al., 1997})." +215050,"{1:Van Creveld et al. (1971)} reported 2 unrelated cases of a new form of metaphyseal chondrodysplasia, characterized clinically by dwarfism and progressive deformity and radiographically by metaphyseal dysplasia with massive deposits of calcified densities, extensive defects of ossification, and proliferation of cartilage. Epiphyses also showed changes. Although the Jansen type of metaphyseal chondrodysplasia was superficially suggested, the ribs and the iliac, tarsal and carpal bones were much more affected in the new disorder, which showed changes in all metaphyses. One of the patients, a child, showed excessive mucopolysacchariduria." +215100,"Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by {43:Wanders and Waterham, 2005}).\n\nIndividuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}.\n\n<Subhead> Genetic Heterogeneity of Rhizomelic Chondrodysplasia Punctata\n\nRCDP2 ({222765}) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT; {602744}) on chromosome 1q42. RCDP3 ({600121}) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS; {603051}) on chromosome 2q31. RCDP5 ({616716}) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5; {600414}) on chromosome 12p13.\n\nWhereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies ({45:Waterham and Ebberink, 2012})." +215140,"Greenberg dysplasia, also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by {7:Konstantinidou et al., 2008}).\n\n{5:Herman (2003)} reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; {270400}), desmosterolosis ({602398}), X-linked dominant chondrodysplasia punctata (CDPX2; {302960}), CHILD syndrome ({308050}), lathosterolosis ({607330}), and HEM skeletal dysplasia." +215150,"Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by {4:Harel et al., 2005})." +215250,"{2:Schimke et al. (1971)} described a girl who excreted about 100 mg of acid mucopolysaccharide daily, and showed a nonprogressive form of nephrotic syndrome with proteinuria and a defect of cellular immunity. Clinical features included short stature, low birth weight, disseminated herpetic infection, truncal shortening, corneal opacities, and demineralization of bones. {1:Erickson (1977)} studied a similar patient. The product of a first-cousin marriage, the patient had 4 sibs who died within the first 2 years of life of apparently related symptoms. The patient survived to her late teens with severe chronic pulmonary disease and cor pulmonale secondary to IgA deficiency. At autopsy, macronodular cirrhosis was found. A first cousin had no immunodeficiency, but showed a mucolipidosis-like phenotype." +215400,"Chordomas are rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues, and, rarely, distant metastatic spread ({7:Stepanek et al., 1998}). The incidence of chordoma is age-dependent, with fewer than 5% occurring in children and adolescents (summary by {5:McMaster et al., 2011})." +215450,"Both a dominant (see {118700}) and a recessive form may exist. {3:Nutting et al. (1969)} described 3 affected sibs out of 5 with phenotypically normal, nonconsanguineous parents. {1:Chun et al. (1973)} described 4 affected sibs out of 7, again with normal, unrelated parents. Reduced penetrance in 1 parent is possible. {2:Damasio et al. (1977)} described the disorder in a brother and sister with normal parents." +215470,"Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop one or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. BNHS is part of a spectrum of neurodegenerative diseases associated with mutations in the PNPLA6 gene that also includes spastic paraplegia-39 (SPG39; {612020}) (summary by {8:Synofzik et al., 2014}).\n\nSee also Gordon Holmes syndrome (GDHS; {212840}), caused by mutation in the RNF216 gene ({609948}), which is also characterized by the combination of cerebellar ataxia and hypogonadotropic hypogonadism." +215480,"Of the 7 children of parents related as half first cousins, 1 boy died during a convulsion at age 2 months and the other 6, born between 1925 and 1935, had severe mental retardation and extensive calcification of the choroid plexus ({2:Lott et al., 1979}). Strabismus, hyperactive deep tendon reflexes, Babinski sign, and lalling speech were other clinical features. ('Lalling speech,' an archaic expression, was used by {1:Friedman and Roy (1944)} in first reporting this family.) CSF protein concentration was 2-3 times normal. Neuropathologic studies were done in 1 sib, who died at age 26 years of cardiovascular collapse, possibly due to an abrupt withdrawal of corticosteroids given for bronchial asthma; autopsy showed severe bilateral adrenal atrophy. Small subcortical heterotopias and atrophy of the choroid plexus with encasement by glial fibrils were found. {2:Lott et al. (1979)} postulated a hereditary disorder of the choroid plexus. In the 1 patient studied, the choroid plexus failed to take up radiolabeled (99m)Tc-pertechnetate. The only other report of this disorder seems to be that by {3:Singh et al. (1993)}. Three sibs in a Saudi family had mental retardation, calcification of the choroid plexus, and increased CSF protein." +215500,"Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by {1:Boon et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Central Areolar Choroidal Dystrophy\n\nCACD2 ({613105}) is caused by mutation in the PRPH2 gene ({179605}) on chromosome 6p21. See also CACD3 ({613144}) for a family in which linkage to the PRPH2 gene and chromosome 17p13 has been excluded." +215518,"In a 12-year-old boy whose parents had immigrated to Australia from Lebanon, {4:Rutland and de Iongh (1990)} described a history of pulmonary problems dating from the first weeks of life. With quantitative methods for measuring ciliary orientation ({1:de Iongh and Rutland, 1989}), they showed that the orientation of the cilia was random as compared to parallel in patients with recurrent respiratory tract infections and in normal subjects. {4:Rutland and de Iongh (1990)} considered the orientation to be a primary defect. They suggested that this patient might be fertile since the orientation of sperm tails in relation to each other would not be expected to have an effect on fertility. They pointed out that normal ciliary ultrastructure has been reported in patients with Kartagener syndrome ({3:Herzon and Murphy, 1980}; {2:Greenstone et al., 1983}) and they suggested that random ciliary orientation could be the defect in some of these patients. Parental consanguinity was not commented on; there were no indications of abnormalities in the parents or sibs." +215550,"{1:Deacon et al. (1974)} reported 3 sisters who died neonatally of respiratory insufficiency. All 3 pregnancies were complicated by polyhydramnios, and each infant showed cutaneous and intracranial hemorrhage, marked central nervous system depression and skeletal abnormalities (over-tubulation of ribs and long bones of the limbs). Since the third infant had a circumvallate placenta, the authors suggested that this might be a primary and gene-determined defect. Familial occurrence of circumvallate placenta was reported by {2:Hunt (1953)} and by {3:Morgan (1955)}." +215850,"{1:Verloove-Vanhorick et al. (1981)} described a combination of severe malformations, lethal in the newborn period, in a brother and sister. Both showed bilateral cheilognatopalatoschizis, truncus arteriosus, and deformity, including oligopolysyndactyly, of all 4 limbs. Borderline suggestions of prediabetes were found in the mother." +216100,"Juberg-Hayward syndrome (JHS) is characterized by cleft lip and palate, rhizomelia of the upper limbs with limited elbow extension due to humeroradial synostosis or dislocation of the radial head, and digital anomalies, including shortened thumbs and index and fifth fingers. Microcephaly has been observed in some patients ({4:Kantaputra et al., 2020})." +216300,"In a sibship of Swedish extraction, {2:Gorlin et al. (1971)} observed 2 sisters with cleft soft palate, severe oligodontia of the deciduous teeth, no permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with wide space between the first and second toes, and coalition of bones in the foot. {1:Gorlin (1989)} knew of no further cases." +216330,{1:Goodman et al. (1975)} described 2 families in which offspring of unaffected consanguineous parents had a particularly severe form of cleidocranial dysplasia. Spinal anomalies were present and the affected persons were dwarfed. +216340,"Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by {3:Campeau et al., 2013})." +216360,"COACH syndrome is an autosomal recessive disorder characterized by impaired intellectual development, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; see {213300}) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding ({1:Brancati et al., 2009}; {3:Doherty et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of COACH Syndrome\n\nAlso see COACH syndrome-2 (COACH2; {619111}), caused by mutation in in the CC2D2A gene ({612013}), and COACH syndrome-3 (COACH3; {619113}), caused by mutation in the RPGRIP1L gene ({610937}).\n\nMost cases of COACH syndrome are caused by mutation in the TMEM67 gene." +216400,"Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection ({36:Nance and Berry, 1992}).\n\n{26:Lowry (1982)} noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. {26:Lowry (1982)} thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. {29:Mallery et al. (1998)} found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment.\n\n<Subhead> Genetic Heterogeneity of Cockayne Syndrome\n\nCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B ({133540}), caused by mutation in the ERCC6 gene ({609413}) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene ({133530}) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene ({133510}) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene ({133520}) on chromosome 16p13.\n\n{48:Rapin et al. (2000)} reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex." +216550,"Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia (summary by {8:Duplomb et al., 2014})." +216800,"{1:Phillips and Griffiths (1969)} described a brother and sister with bilateral macular coloboma, cleft palate, hallux valgus and other abnormalities. The parents were not related. The ocular trait was similar to that described by Sorsby as a dominant and listed here as 'coloboma of the macula with type B brachydactyly' ({120400}). Digital abnormalities present in the sibs reported by Phillips and Griffiths were of relatively mild type and different nature than those in Sorsby's family." +216820,"Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of 1 or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by {1:Kelberman et al., 2014}).\n\nFor a discussion of genetic heterogeneity of ocular coloboma, see {120200}." +216900,"Total colorblindness, also referred to as rod monochromacy or complete achromatopsia, is a rare congenital autosomal recessive disorder characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colors. Electroretinographic recordings show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor responses are absent (summary by {7:Kohl et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Total Achromatopsia\n\nA form of achromatopsia previously designated achromatopsia-1 (ACHM1) was later found to be the same as achromatopsia-3 (ACHM3; {262300}), caused by mutation in the CNGB3 gene ({605080}). ACHM4 ({613856}) is caused by mutation in the GNAT2 gene ({139340}); ACHM5 ({613093}) is caused by mutation in the PDE6C gene ({600827}); ACHM6 (see {610024}) is caused by mutation in the PDE6H gene ({601190}); and ACHM7 ({616517}) is caused by mutation in the ATF6 gene ({605537})." +217050,"The final consequence of complement activation is formation of the membrane attack complex (MAC), a multiprotein assembly that perforates cell membranes, forming transmembrane channels. C6 is 1 of 5 late-acting proteins of complement that participate in assembly and function of the MAC ({4:DiScipio and Hugli, 1989})." +217080,"Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization (summary by {5:Parry et al., 2009})." +217090,"Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. A slightly increased female:male ratio has been observed (1.4:1 to 2:1) ({17:Schuster and Seregard, 2003}; {20:Tefs et al., 2006}).\n\nType I plasminogen deficiency is characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and clinical symptoms, whereas type II plasminogen deficiency, also known as 'dysplasminogenemia,' is characterized by decreased plasminogen activity with normal or slightly reduced antigen levels. Patients with type II deficiency are usually asymptomatic. Ligneous conjunctivitis and pseudomembranous formation has only been associated with type I plasminogen deficiency. Presumably, normal amounts of plasminogen antigen with decreased activity, as seen in type II, is sufficient for normal wound healing ({17:Schuster and Seregard, 2003})." +217100,"{17:Temtamy and McKusick (1978)} could find no evidence of a clear or simple genetic basis.\n\nAfter the work of {15:Streeter (1930)}, the causative role of amniotic bands was discounted and the malformations, both the bands and the associated absence deformities, were thought to result from tissue necrosis, probably on a vascular basis. However, the work of {18:Torpin (1968)} made a modified form of the amniotic band theory plausible. A considerable body of observations indicated that rupture of the amnion and constriction of members which are displaced through holes in the amnion are involved. Amputated parts have been recovered in some instances. {5:Gellis (1977)} described a family in which both the father and 1 son had a ring constriction of the third left finger and a second family in which the fourth right finger was affected in father and son. In all 4 instances the constriction involved the terminal phalanx and there were no amputations. In the discussion of the report by {5:Gellis (1977)}, W. Lenz pointed out that a pedunculated rudimentary thumb attached to the hand by a thread-like strand of tissue may occur in the Fanconi syndrome ({227650}) and that type B brachydactyly ({113000}) may resemble constriction band disease.\n\n{8:Keller et al. (1978)} discussed the ADAM complex (amniotic deformity, adhesions, mutilations), a designation given by John Opitz to the association of constriction band with cleft lip and palate and other facial malformations. They observed the complex in 2 boys related as first cousins once removed. One of the boys showed, in addition to cleft lip-palate and digital amputation, curious linear constriction about the forehead and temples. In general they supported the nonmendelian nature of constriction bands and of the ADAM complex. Familial instances of involvement of the limbs have been reported only rarely ({7:Jones et al., 1974}). {3:Etches et al. (1982)} reported congenital amputations of the toes in a male infant and his mother. {10:Lubinsky et al. (1983)} and {9:Lubinsky (1983)} reported 2 families. In 1, the proband had a classic amputation of the right leg at midcalf, with recovery of the amputated part; her cousin had typical multiple constriction bands. In the second family, the proband had anencephaly with documented bands, a maternal uncle had bilateral congenital finger amputations, and a more remote relative had a child with anencephaly and cleft palate possibly secondary to bands. {2:Donnenfeld et al. (1985)} described the amniotic band sequence in 1 of DZ twins. Multiple facial clefts were present in the affected twin. {13:Pauli et al. (1985)} presented 3 families, each of which had 2 cases of terminal transverse defects of the arm. The illustrations were highly suggestive of amputation by constriction bands. In 1 instance father and son were affected; in the other 2 families, the case other than the proband was a first cousin once removed and a first cousin thrice removed. {13:Pauli et al. (1985)} concluded that whereas mendelism was not tenable, a genetic contribution rather than chance occurrence was likely.\n\n{1:Bamforth (1992)} reviewed recently published reports of 54 subjects with the amniotic band disruption sequence which he referred to as 'limb and/or body wall defect' (acronym LBWD). Focusing on the internal anomalies which most frequently involve the head, lungs, heart, diaphragm, kidneys, and gonads, he concluded that the damage occurs in a definable time period, probably prior to 26 days postconception and before the establishment of effective embryonic circulation. He further contended that most defects are explicable in terms of interference with neuropore closure, malmigration of cephalic neural crest tissue, and damage to the mesonephros consistent with local interference of the graded expression of organizational genes.\n\n{19:Van Allen et al. (1992)} presented evidence that vascular disruption from death of a cotwin (1 case) or from in utero embolic infarcts (1 case) can cause terminal limb reduction defects and possibly cleft lip and palate, and ring constrictions similar to those of the amniotic band disruption sequence in the absence of an abnormal amnion.\n\n{16:Taub et al. (2003)} described 3 successive cases of amniotic band sequence observed within a 1-year period with typical cleft lip and palate and constriction bands of the limbs.\n\n{12:Orioli et al. (2003)} studied a large Latin American database of live births and still births and found a prevalence rate of ADAM sequence of approximately 1:11,200 births from 1982 to 1998. Half of the cases identified had reduction or ring constriction deformities of fingers or toes only. Other features that were significantly associated with the above lesions included acrania, cephalocele, facial clefts, eyelid colobomas, and celosomia. There was an excess of cases in the high-altitude Andes population and among the stillborn and neonatal deaths. ADAM sequence was seen more frequently in first-born children and in those whose mothers had a first trimester history of febrile illness, medication use, or vaginal bleeding.\n\n{11:Maas et al. (2009)} described 2 women with Goltz-Gorlin syndrome, or focal dermal hypoplasia (FDH; {305600}), who had 1 and 2 female fetuses, respectively, with a phenotype resembling either the limb-body wall complex or the pentalogy of Cantrell (see {313850}). {11:Maas et al. (2009)} suggested that some cases with the latter diagnoses may in fact be severely affected fetuses with Goltz-Gorlin syndrome.\n\n{6:Isidor et al. (2009)} reported 4 patients with severe limb anomalies which were originally diagnosed as amniotic band sequence, but who also had congenital skin pedicles which were considered to be more like the 'disorganization' phenotype ({223200}). {6:Isidor et al. (2009)} suggested that hamartomatous skin pedicles and 'amniotic band sequence plus' (ABS plus) are different phenotypes resembling mouse disorganization ('disorganization-like'). {14:Purandare et al. (2009)} independently suggested that amniotic band sequence with other anomalies, particularly skin appendages, is suggestive of a disorganization homolog." +217150,"{1:Froster-Iskenius et al. (1988)} described 2 unrelated families, each with 2 affected sibs with an apparently 'new' type of arthrogryposis. The first family had affected brother and sister, the second family 2 affected brothers. Cleft palate was present in both members of the first family. Axillary webbing was present in 3 of the 4. The brother and sister developed malignant hyperthermia in response to anesthesia; anesthesia was avoided in the second family. Two natal teeth were present in 1 of the patients; the second patient could not open her mouth fully. {1:Froster-Iskenius et al. (1988)} believed that this disorder is distinct from the King syndrome ({145600}) as well as from the multiple pterygium syndrome. {2:Robinson et al. (1987)} described a lethal form of multiple pterygium syndrome associated with malignant hyperthermia. Two sibs, a male born live at 33 weeks' gestation and a stillborn female delivered at 25 weeks' gestation, were reported." +217200,"In utero onset was noted by {1:Badr El-Din (1960)}, who described the condition in sibs as a familial convulsive disorder. Other features were mental retardation, generalized hypertonus, reflex myoclonus, and death in the first year. {4:Winkelman and Moore (1942)} described a single case with antenatal onset. {3:Liu and Sylvester (1960)} reported a disorder beginning near or before birth and characterized by mental deterioration, fits, spasticity, paralysis, deafness, and blindness. The parents were not related and 2 brothers were affected. The condition could, of course, be X-linked as well as autosomal recessive. Intrauterine convulsions also occur in pyridoxine dependency ({2:Bejsovec et al., 1967}); see {266100}." +217300,"Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by {11:Tahvanainen et al., 1996}).\n\nFor discussion of genetic heterogeneity of CNA, see CNA1 ({121400})." +217400,"Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive sensorineural deafness, and is transmitted as an autosomal recessive trait (summary by {2:Desir et al., 2007})." +217520,"In a brother and sister with first-cousin parents, {1:Hida et al. (1984)} reported band-shaped spheroid degeneration of the cornea. The proposita, aged 42 years, was referred for corneal transplant. Each affected sib had 2 unaffected children. Except for the secondary forms associated with other ocular disorders, spheroid degeneration of the cornea has been reported only in certain geographic areas in which the eyes are exposed to climactic extremes; familial occurrence is exceptional. {3:Kloucek (1977)} and {2:Kanai and Kaufman (1982)} reported familial cases." +217600,"{1:Francois (1958)} described a brother and sister, aged 50 and 35, respectively, with what he considered to be a 'new' type of hereditary corneal dystrophy. He referred to it as 'dystrophie corneenne nuageuse centrale.'" +217700,"Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane (summary by {9:Vithana et al., 2006})." +217800,"Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by {1:Akama et al., 2000})." +217980,"Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (summary by {10:Toriello et al., 2003}).\n\nIn a review of the Toriello-Carey syndrome, {12:Toriello et al. (2016)} stated that while corpus callosum abnormalities and micrognathia with highly arched or cleft palate are seen in most patients, other manifestations are widely variable. They noted that etiologic heterogeneity has been observed in reported patients, with at least 20% of patients having chromosome anomalies, and that no good candidate genes have been identified by exome sequencing. The authors commented that this condition might not be a unitary diagnostic entity. They recommended chromosome microarray for any child suspected of having the condition, followed by standard of care by genetic testing." +217990,"The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks ({12:Schell-Apacik et al., 2008}). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and {2:Dobyns, 1996}). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; {157600}).\n\n{12:Schell-Apacik et al. (2008)} noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis." +218000,"Andermann syndrome is an autosomal recessive motor and sensory neuropathy with agenesis of the corpus callosum associated with developmental and neurodegenerative defects and dysmorphic features. It has a high prevalence in the French Canadian population in the Charlevoix and Saguenay-Lac-Saint-Jean region of Quebec ({17:Uyanik et al., 2006}).\n\n{9:Dupre et al. (2003)} provided a comprehensive review of the disorder. {8:Dobyns (1996)} reviewed the many genetic causes of agenesis of the corpus callosum." +218010,"{1:Hernandez et al. (1985)} found this combination in 3 children of first-cousin parents. The facies were considered typical with prominent forehead, short nose, long philtrum, and microretrognathia. Two of the 3 died at 20 and 5 months, respectively, of acute gastroenteritis. Growth and psychomotor development were severely retarded." +218030,"Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone (review by {2:Ferrari, 2010})." +218040,"Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse facies, short stature, distinctive hand posture and appearance, severe feeding difficulty, and failure to thrive. Other features include cardiac anomalies and developmental disability. Facial warts, particularly nasolabial, are often present in childhood ({45:Kerr et al., 2006}).\n\nIn patients with a clinical diagnosis of Costello syndrome, {90:Zenker et al. (2007)} identified mutations in the KRAS gene, but noted that these patients may later develop features of CFC syndrome. In either case, the findings underscore the central role of Ras in the pathogenesis of these phenotypically related disorders ({90:Zenker et al., 2007}). However, {44:Kerr et al. (2008)} commented that the diagnosis of Costello syndrome should only be used to refer to patients with mutations in the HRAS gene." +218050,"{1:Hanson and Mincy (1975)} described 2 brothers with cramps in the legs following strenuous exercise. Symptoms were maximal at adolescence. Both showed elevation of serum creatine phosphokinase. Muscle biopsy showed changes compatible with a myopathy. Five younger children, 2 girls and 3 boys, had elevated CPK levels. The mother had mild elevation of CPK." +218100,"{3:Stark (1940)} observed congenital weakness of cranial nerves III, IV and VII in 2 sisters and a brother from a consanguineous mating. {4:Thomas (1898)} described congenital facial paralysis in 2 brothers who also had malformed external ears. {1:Cadwalader (1922)} reported affected sibs from a first-cousin marriage." +218200,"In the offspring of Jewish first cousins, {1:Currie (1970)} described 4 sibs (3 brothers and a sister) out of 5 who suffered recurrent episodes of Bell palsy and external ophthalmoplegia. All 4 had Bell palsy to a total of 7 episodes. Three had a total of 4 episodes of ocular palsy. One brother had proved diabetes and one had latent diabetes. One had polycythemia. The episodes were characteristic of those in diabetics. The lack of iridoplegia with the third nerve palsy distinguishes the ocular palsy from that of berry aneurysm. This is probably just a chance familial aggregation of cranial neuropathy in diabetes." +218330,"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive disorder characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies (summary by {7:Gilissen et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Cranioectodermal Dysplasia\n\nAlso see CED2 ({613610}), caused by mutation in the WDR35 gene ({613602}) on chromosome 2p24; CED3 ({614099}), caused by mutation in the IFT43 gene ({614068}) on chromosome 14q24; and CED4 ({614378}), caused by mutation in the WDR19 gene ({608151}) on chromosome 4p14.\n\nIn a review, {11:Lin et al. (2013)} found that of 14 of 39 patients with Sensenbrenner syndrome who had a molecular diagnosis, 6 (43%) had mutations in WDR35, 4 in IFT122, 2 in WDR19, and 2 in IFT43." +218340,"Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by {1:Akizu et al., 2013})." +218400,"Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by {10:Nurnberg et al., 1997}).\n\nThe delineation of separate autosomal dominant (CMDD; {123000}) and autosomal recessive forms of CMD by {2:Gorlin et al. (1969)} was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, whereas the recessive form is rare, severe, and possibly heterogeneous." +218450,"{2:Pfeiffer et al. (1987)} described 2 sibs from healthy parents with this combination of manifestations. Curiously, no mention was made of the sex of the sibs. {3:Stratton and Parsons (1989)} described a sporadic case. In addition to craniosynostosis involving the sagittal suture, micrognathia with limited mouth opening, tracheobronchial anomalies, congenital heart defects, microphallus, cryptorchidism, and growth and mental retardation were features.\n\n{4:Williamson-Kruse and Biesecker (1995)} reported a fourth case. Although most of the features were similar to those described in the earlier patient, a heart defect was missing, suggesting that congenital heart defect is not an obligatory feature of the cardiocranial syndrome! The patient was male; one of the original sibs of {2:Pfeiffer et al. (1987)} was female.\n\nAutosomal recessive inheritance was supported by the finding of Pfeiffer cardiocranial syndrome in a brother and sister by {1:Digilio et al. (1997)}. Craniosynostosis was present in only 1 of the sibs, suggesting intrafamilial variability. Further, the clinical spectrum of the disorder was expanded by inclusion of renal, joint, and palpebral abnormalities." +218530,"{1:Woon et al. (1980)} described presumably monozygotic male twins who died at ages 2 and 3 months and who showed identical changes in skull and limbs: premature craniosynostosis, synchondrosis of the bones at the base of the skull, absent thumbs, absence of the middle phalanges of fingers 2 and 5, and proximally placed halluces. The mother was Mexican American and the father Sioux Indian without known consanguinity. Chromosomes were normal." +218550,{1:Lowry (1972)} described brothers with this combination. The parents were related. {2:Lowry (1993)} provided a follow-up of one of the brothers at the age of 25 years. He was of average intelligence and had completed 2 years of college. He showed markedly hypoplastic calves. +218600,"The cardinal features of the Baller-Gerold syndrome are craniosynostosis and radial aplasia ({9:Galea and Tolmie, 1990}). Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome (SCS; {101400})." +218650,"{1:Baraitser et al. (1982)} described a 5-year-old girl with craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose. The same disorder was detected in a later pregnancy by fetoscopy, which demonstrated cleft lip. The electively aborted male fetus showed also palatal cleft, choroidal coloboma, and small posterior fontanel." +218670,"{1:Daum et al. (1958)} described a 6-month-old child with frontal bone protrusion, encephalocele, craniosynostosis, and developmental retardation. {3:Jabbour and Taybi (1964)} reported a similarly affected child whose condition they designated craniotelencephalic dysplasia. {2:Hughes et al. (1983)} reported 2 affected sisters and described the autopsy findings in 1. These included septooptic dysplasia (optic nerve hypoplasia and absent septum pellucidum), agenesis of the corpus callosum, lissencephaly, and arhinencephaly. In 1 sib, the forehead had the appearance of a frontal encephalocele.\n\nSee septooptic dysplasia ({182230})." +218700,"In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis. In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage ({27:Macchia et al., 1998})." +218900,"{1:Crome et al. (1963)} described 2 female infants with an identical disorder--congenital cataracts, epileptic fits, mental retardation, small stature, and death (at 4 and 8 months). Postmortem showed renal tubular necrosis and encephalopathy. The parents were first cousins. Similarities to Marinesco-Sjogren syndrome ({248800}) and to Lowe syndrome ({309000}) were pointed out. The latter is an X-linked recessive. The former is autosomal recessive but renal change has not been described and survival to a later age is usual." +219000,"Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by {37:van Haelst et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Fraser Syndrome\n\nFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene ({608945}) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; {617667}) is caused by mutation in the GRIP1 gene ({604597}) on chromosome 12q14.\n\nSee Bowen syndrome ({211200}) for a comparable but probably distinct syndrome of multiple congenital malformations." +219050,"Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by {7:Gorlov et al., 2002})." +219080,"ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome ({28:Swain et al., 1998}; {5:Christopoulos et al., 2005}).\n\nApproximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex ({160980}) and associated with mutations in the PRKAR1A gene ({188830}) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome ({28:Swain et al., 1998}; {5:Christopoulos et al., 2005}).\n\nSee also ACTH-independent Cushing syndrome ({615830}) due to somatic mutation in the PRKACA gene ({601639}).\n\nCushing 'disease' ({219090}) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH.\n\n<Subhead> Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal Hyperplasia\n\nAIMAH2 ({615954}) is caused by germline mutation of 1 allele of the ARMC5 gene ({615549}) coupled with a somatic mutation in the other allele." +219090,"Adrenocorticotropic hormone (ACTH) hypersecretion by corticotroph adenomas of the pituitary result in excess cortisol secretion, or Cushing disease. The clinical features of Cushing disease include central obesity, moon facies, 'buffalo hump,' diabetes, hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by {5:Perez-Rivas et al., 2015}).\n\nMutations in the USP8 gene, leading to an upregulated epidermal growth factor receptor (EGFR; {131550}) pathway, have been identified in about 36 to 62% of corticotroph adenomas (summary by {4:Mete and Lopes, 2017})." +219095,"{1:Labrune et al. (1991)} described early cutaneous photosensitivity and severe colitis in 3 of 4 sibs born to unrelated parents. All 3 affected sibs died from refractory diarrhea. The fourth sib, who had a different father, was normal. The first infant developed erythematous and vesicular lesions of the face after a 6-hour exposure to sun at the age of 2 weeks and died at the age of 6 months. The second sib, a girl, died at the age of 20 months after a similar course. Porphyria was excluded. Normal plasma zinc concentration in 1 of the sibs strongly argued against the diagnosis of acrodermatitis enteropathica ({201100})." +219100,"Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classical Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by {11:Davidson and Giro, 2002}).\n\nThe clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa (ARCL1) is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. Diminution of elastic fibers throughout the dermis and abnormal elastin components by electron microscopy are pathognomonic (summary by {24:Morava et al., 2009}).\n\nClassification of autosomal recessive cutis laxa is further divided into type II (ARCL2), associated with bone dystrophy, joint laxity, and developmental delay; and type III (ARCL3), or de Barsy syndrome, which presents very severe symptoms, with ocular involvement and mental retardation (summary by {11:Davidson and Giro, 2002}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see {123700}.\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Cutis Laxa\n\nAlso see ARCL1B ({614437}), caused by mutation in the FBLN4 gene (EFEMP2; {604633}), and ARCL1C ({613177}), caused by mutation in the LTBP4 gene (FAM72A; {614710}).\n\nARCL2A ({219200}) is caused by mutation in the ATP6V0A2 gene ({611716}). ARCL2B ({612940}) is caused by mutation in the PYCR1 gene ({179035}). ARCL2C ({617402}) is caused by mutation in the ATP6V1E1 gene ({108746}). ARCL2D ({617403}) is caused by mutation in the ATP6V1A gene ({607027}). ARCL2E ({619451}) is caused by mutation in the LTBP1 gene ({150390}).\n\nARCL3A ({219150}) is caused by mutation in the ALDH18A1 gene ({138250}). ARCL3B ({614438}) is caused by mutation in the PYCR1 gene ({179035})." +219150,"De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by {9:Kivuva et al., 2008}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}.\n\n<Subhead> Genetic Heterogeneity of de Barsy Syndrome\n\nAlso see ARCL3B ({614438}), caused by mutation in the PYCR1 gene ({179035}) on chromosome 17q25." +219200,"Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by {13:Morava et al., 2009}). {26:Van Maldergem et al. (2008)} concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100}).\n\n<Subhead> Genetic Heterogeneity of Cutis Laxa Type II\n\nARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B ({612940}) is caused by mutation in the PYCR1 gene ({179035}). ARCL2C ({617402}) is caused by mutation in the ATP6V1E1 gene ({108746}). ARCL2D ({617403}) is caused by mutation in the ATP6V1A gene ({607027}). ARCL2E ({619451}) is caused by mutation in the LTBP1 gene ({150390})." +219400,"{1:Silverman et al. (1968)} observed 2 children, brother and sister, who developed dyspnea, cyanosis and digital clubbing 11 and 18 months after episodes of hepatitis. Pulmonary arteriovenous fistulae too small to be demonstrated by angiography were postulated." +219500,"Cystathioninuria, an autosomal recessive phenotype with no striking pathologic features, is characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion. Because of the inconsistency and wide variety of disease associations, cystathioninuria is considered to be a benign biochemical anomaly ({10:Mudd et al., 2001})." +219550,"Among the offspring of first-cousin Iraqi Jewish parents, {1:Ben-Ami et al. (1973)} observed a mentally retarded boy in whom paper chromatographic examination of the urine showed an abnormal compound having staining reactions with ninhydrin cyanide-nitroprusside and iodoplatinate reagents. The peptide contained cysteine and glycine in 2:1 molar proportions. The urine of the mother and 5 sisters was normal." +219600,"The disease manifests itself relatively early in life, even in the first decade in some, and recurrent infection is the principal feature. The genetics of this disorder is unclear. However, the observations of a relatively high frequency in 'Oriental' (non-Ashkenazi) Jews in Israel, particularly in Yemenites ({6:Racz and Baum, 1965}; {1:Baum et al., 1966}), and in the Maori of New Zealand ({2:Hinds, 1958}) are noteworthy. A probably distinct and probably autosomal recessive form of cystic lung disease was described by {4:Ives (1975)} in 2 sisters. The cysts were peripheral and resulted in spontaneous neonatal pneumothorax. One sib died at 3 months and the other at 20 hours. {5:MacRae (1947)} described pulmonary cystic disease in 4 brothers. See fibrocystic pulmonary dysplasia ({178500})." +219700,"Cystic fibrosis (CF) is classically described as a triad of chronic obstructive pulmonary disease, exocrine pancreatic insufficiency, and elevation of sodium and chloride concentration in sweat. Almost all males with CF are infertile due to congenital bilateral absence of the vas deferens. The disorder is associated with decreased longevity (summary by {56:Cutting, 2002}).\n\nFor discussion of a phenotype consisting of bronchiectasis with or without elevated sweat chloride caused by mutation in the genes encoding the 3 subunits of the epithelial sodium channel, see BESC1 ({211400})." +219730,"Ventriculomegaly with cystic kidney disease is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by {2:Slavotinek et al., 2015}).\n\nSee also {602200} for a disorder characterized by ventriculomegaly and defects of the radius and kidney." +219750,"Ocular nonnephropathic cystinosis, a variant of the classic nephropathic type of cystinosis ({219800}), is an autosomal recessive lysosomal storage disorder characterized by photophobia due to corneal cystine crystals but absence of renal disease (summary by {1:Anikster et al., 2000})." +219800,"Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome." +220100,"Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (summary by {1:Barbosa et al., 2012})." +220110,"Mitochondrial complex IV deficiency nuclear type 1 (MC4DN1) is an autosomal recessive metabolic disorder characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills between about 5 and 18 months of age after normal early development. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, and poor eye contact. Other features may include oculomotor abnormalities, including slow saccades, strabismus, ophthalmoplegia, and nystagmus, as well as deafness, apneic episodes, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Some patients may also have abnormalities in the brainstem and cerebellum. Laboratory studies usually show increased serum and CSF lactate and decreased levels and activity of mitochondrial respiratory complex IV in patient tissues. There is phenotypic variability, but death in childhood, often due to central respiratory failure, is common (summary by {32:Tiranti et al., 1998}; {33:Tiranti et al., 1999}; {31:Teraoka et al., 1999}; {22:Poyau et al., 2000})\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex IV Deficiency\n\nMost isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare ({30:Shoubridge, 2001}; {26:Sacconi et al., 2003}).\n\nMitochondrial complex IV deficiency caused by mutation in nuclear-encoded genes, in addition to MC4DN1, include MC4DN2 ({604377}), caused by mutation in the SCO2 gene ({604272}); MC4DN3 ({619046}), caused by mutation in the COX10 gene ({602125}); MC4DN4 ({619048}), caused by mutation in the SCO1 gene ({603664}); MC4DN5 ({220111}), caused by mutation in the LRPPRC gene ({607544}); MC4DN6 ({615119}), caused by mutation in the COX15 gene ({603646}); MC4DN7 ({619051}), caused by mutation in the COX6B1 gene ({124089}); MC4DN8 ({619052}), caused by mutation in the TACO1 gene ({612958}); MC4DN9 ({616500}), caused by mutation in the COA5 gene ({613920}); MC4DN10 ({619053}), caused by mutation in the COX14 gene ({614478}); MC4DN11 ({619054}), caused by mutation in the COX20 gene ({614698}); MC4DN12 ({619055}), caused by mutation in the PET100 gene ({614770}); MC4DN13 ({616501}), caused by mutation in the COA6 gene ({614772}); MC4DN14 ({619058}), caused by mutation in the COA3 gene ({614775}); MC4DN15 ({619059}), caused by mutation in the COX8A gene ({123870}); MC4DN16 ({619060}), caused by mutation in the COX4I1 gene ({123864}); MC4DN17 ({619061}), caused by mutation in the APOPT1 gene ({616003}); MC4DN18 ({619062}), caused by mutation in the COX6A2 gene ({602009}); MC4DN19 ({619063}), caused by mutation in the PET117 gene ({614771}); MC4DN20 ({619064}), caused by mutation in the COX5A gene ({603773}); and MC4DN21 ({619065}), caused by mutation in the COXFA4 gene ({603883}).\n\nMitochondrial complex IV deficiency has been associated with mutations in several mitochondrial genes, including MTCO1 ({516030}), MTCO2 ({516040}), MTCO3 ({516050}), MTTS1 ({590080}), MTTL1 ({590050}), and MTTN ({590010})." +220111,"Mitochondrial complex IV deficiency nuclear type 5 (MC4DN5) is an autosomal recessive severe metabolic multisystemic disorder with onset in infancy. Features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. There is increased serum lactate and episodic hypoglycemia. Some patients may have cardiomyopathy, abnormal breathing, or liver abnormalities, reflecting systemic involvement. Brain imaging shows lesions in the brainstem and basal ganglia, consistent with a diagnosis of Leigh syndrome (see {256000}). Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by {2:Debray et al., 2011}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +220120,"D-glyceric aciduria is a rare autosomal recessive metabolic disorder with a highly variable phenotype. Some patients have an encephalopathic presentation, with severe mental retardation, seizures, microcephaly, and sometimes early death, whereas others have a mild phenotype with only mild speech delay or even normal development (summary by {9:Sass et al., 2010})." +220150,"Renal hypouricemia is characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells. The syndrome is not lethal and may be asymptomatic. However, it is accompanied by nephrolithiasis and exercise-induced acute renal failure in about 10% of patients ({9:Ichida et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Renal Hypouricemia\n\nSee also RHUC2 ({612076}), which is caused by mutation in the SLC2A9 gene ({606142})." +220200,"Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by {11:Murray et al., 1985})." +220210,"The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have delayed psychomotor development (summary by {10:Leonardi et al., 2001}; {4:Elliott et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Ritscher-Schinzel Syndrome\n\nSee also RTSC2 ({300963}), caused by mutation in the CCDC22 gene ({300859}) on chromosome Xp11; RTSC3 ({619135}), caused by mutation in the VPS35L gene ({618981}) on chromosome 16p12; and RTSC4 ({619435}), caused by mutation in the DPYSL5 gene ({608383}) on chromosome 2p23." +220219,"{1:Buttiens et al. (1989)} described a brother and 2 sisters with Dandy-Walker malformation, severe mental retardation, macrocephaly, facial dysmorphism, extreme myopia, and brachytelephalangy with short and broad fingernails. The parents were normal and unrelated. The Dandy-Walker malformation resulted in secondary hydrocephalus. The authors suggested that this is a distinct autosomal recessive syndrome." +220300,"{1:Latham and Munro (1937)} reported a family in which the parents were second cousins and 5 out of 8 sibs had congenital deafness with myoclonic epilepsy which began at age 10-12 years. Probably no other such families have been reported. See myoclonus, cerebellar ataxia, and deafness ({159800})." +220400,"The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death ({9:Jervell and Lange-Nielsen, 1957}).\n\n<Subhead> Genetic Heterogeneity of Jervell and Lange-Nielsen Syndrome\n\nAlso see JLNS2 ({612347}), caused by mutation in the KCNE1 gene ({176261}) on chromosome 21q22." +220500,"DOOR syndrome is an autosomal recessive disorder characterized by Deafness, Onychodystrophy, Osteodystrophy, and mental Retardation. {2:Cantwell (1975)} suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics.\n\nSee also DDOD syndrome ({124480}), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation. See also OORS syndrome ({619356}), caused by mutation in the PIGF gene ({600153}), which shows overlapping features with the notable lack of deafness." +221320,"{1:Jackson and Barr (1978)} described 2 sisters with conductive hearing loss from combined atresia of the external auditory canal and the middle ear space, complicated by chronic infection, ptosis, thin, pinched-nose facial appearance, ectodermal dysplasia manifested by delayed hair growth and dysplastic teeth, and skeletal abnormalities (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). {2:Lowden (1980)} observed an identical case." +221350,"{2:Rozycki et al. (1971)} described a syndrome of deafness associated with short stature, vitiligo, muscle wasting, and achalasia. See {606579} for the association of vitiligo and congenital deafness, and {142623} and {193500} for a description of congenital deafness with Hirschsprung disease, another aganglionic state. Reference to an association of achalasia and leukoderma was given by {1:McKusick (1973)}. {2:Rozycki et al. (1971)} observed affected brother and sister with first-cousin parents." +221400,"{2:Hirschowitz et al. (1972)} described 3 sisters, from a sibship of 6, who had progressive nerve deafness beginning at ages 8, 3 and 9 years and becoming complete or nearly complete by ages 10, 5 and 18 years, respectively. Vestibular function remained normal. Progressive sensory neuropathy without peripheral trophic changes was also present. Tachycardia and loss of the carotid sinus reflex may indicate involvement of the cardiac vagus. Involvement of the vagus nerve led to progressive loss of gastric motility. Two of the sisters were demonstrated to have multiple diverticula with jejunoileal ulceration from which the eldest sister died at age 18 years. Malabsorption of fat and intestinal loss of serum protein occurred. A surviving sister had marked acanthosis nigricans. {4:Potasman et al. (1985)} reported 2 sisters with the same or a similar disorder. The parents were first cousins. Peripheral nerve biopsy showed demyelinization. The patients died at ages 31 and 20 years, their disorder having manifested itself at age 24 and 13 years, respectively. This appears to be an entity distinct from others such as Refsum syndrome ({266500}) and hereditary sensory radicular neuropathy ({162400}). {3:Igarashi et al. (1981)} demonstrated cochleosaccular degeneration as the cause of deafness in 1 of the 3 sisters reported by {2:Hirschowitz et al. (1972)}." +221500,{1:Konigsmark et al. (1970)} described congenital moderate neural hearing loss in 3 sibships with apparent recessive inheritance. They concluded that this type had not been described previously. +221700,"{3:Konigsmark et al. (1968)} found the combination of neural deafness and atopic dermatitis in 3 of 4 sibs. The atopic dermatitis was atypical in late age of onset and distribution (ulnar aspects of forearms and antecubital fossae). The hearing loss was cochlear, was first noted between ages 3 and 5 years, and was sufficiently mild that it caused no difficulty in school. In the family of {4:Larsen et al. (1978)}, perceptive, nonprogressive hearing loss was associated with atopic dermatitis and very high serum IgE concentration. The pedigree suggested autosomal dominant inheritance; the association of atopy may have been coincidental since dominant deafness was present in many without atopy. {2:Frentz et al. (1976)} reported 2 brothers with the combination. Each also had mild palmoplantar keratoderma inherited through the father.\n\n{5:Verbov (1987)} reported a family in which a mother and daughter had a combination of palmoplantar keratoderma, deafness and atopy. The maternal grandmother had only keratoderma and a sister of the 'mother' had deafness and keratoderma. {1:Fitzgerald and Verbov (1996)} corrected the pedigree and gave information on 2 further affected children. They concluded that the disorder in this family is hereditary palmoplantar keratoderma with deafness ({148350})." +221740,"{1:Glass and Gorlin (1979)} described a brother and sister with congenital profound sensorineural deafness and oligodontia. Certain of the permanent incisors, premolars, and molars were absent in both. Parental consanguinity was denied. The authors concluded that the disorder reported by {2:Lee et al. (1978)} may be distinct." +221770,"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy is characterized by presenile dementia along with large-scale destruction of cancellous bones. Initial symptoms, starting in the twenties, are pain and swelling resulting from cysts in the wrists and ankles. Extremity bone fractures could occur with minor trauma. At around 30 years of age, patients gradually develop neuropsychiatric symptoms, including epileptic seizures, agnosia, apraxia, speech disorder, memory disturbance, euphoria, and loss of social inhibitions. The disorder usually leads to death in the fifth decade of life (summary by {9:Kondo et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy\n\nAlso see PLOSL2 ({618193}), caused by mutation in the TREM2 gene ({605086}) on chromosome 6p21." +221780,{1:Holt (1975)} described hypothenar radial arches in 2 families and concluded that the inheritance is probably recessive. +221790,"{1:Matsuyama et al. (1978)} described a 'new' disorder in a Japanese brother and sister, the progeny of normal parents. They were born with thickened wrinkled skin and died in the third year of life with a progressive cerebral disease characterized by generalized mental and motor impairment. Postmortem neuropathologic studies showed a remarkable leukodystrophy with multiple axonal spheroids as the outstanding feature. Ultrastructurally, the spheroids contained granules resembling ceroid-lipofuscin bodies. Similar granules were found in degenerating oligodendrocytes and in Schwann cells. The skin showed hypercellularity and sclerosis. The ears, nose, hands and feet appeared disproportionately large. Striking thickening, wrinkling and creasing of the skin was generalized and gave the face the appearance of an aged person." +221800,"Dermochondrocorneal dystrophy, or Francois syndrome, is a rare disorder characterized by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities (summary by {1:Bierly et al., 1992})." +221820,"Hereditary diffuse leukoencephalopathy with spheroids-1 (HDLS1) is an autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes (summary by {10:Rademakers et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of HDLS\n\nSee also HDLS2 ({619661}), caused by mutation in the AARS1 gene ({601065}) on chromosome 16q22." +221900,"Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see {5:Haddad et al., 1978}; {7:Khaliq et al., 2001}; {15:Prasov et al., 2012}).\n\nPHPV shares phenotypic overlap with Norrie disease ({310600}).\n\n<Subhead> Genetic Heterogeneity of Persistent Hyperplastic Primary Vitreous\n\nA dominant form of PHPV has been described (PHPVAD; {611308})." +221950,"In presumably unrelated patients born in each case of consanguineous Arab parents, {1:Aughton (1990)} and {2:Nachlieli and Gershoni-Baruch (1992)} described dextrocardia associated with an unusual facial appearance (sloping forehead, prominent nose, large pinnae, and micrognathia), microphthalmia or clinical anophthalmia, and normal growth. Both had an unusual 'folding' of the plantar aspect of the foot. The patient of {1:Aughton (1990)} also had vertebral fusion defects and supernumerary ribs. The patient of {2:Nachlieli and Gershoni-Baruch (1992)} had cleft palate, mental retardation, and choreoathetosis." +221995,"{1:Schofer et al. (1990)} described 2 brothers with nephrogenic diabetes insipidus, intracerebral calcifications, defective psychomotor development, dwarfism, and peculiar facial appearance. The disorder had some resemblance to Cockayne syndrome ({216400}), from which, however, the authors thought it to be distinct. Another sib, a twin of one of the brothers, had the same condition and died at the age of 7 years. The oldest surviving brother was 147 cm tall at the age of 25 years." +222100,"Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations ({138:Todd, 1990}). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype.\n\nThe classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels." +222300,"Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by {34:Rendtorff et al., 2011}).\n\nAutosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness ({600965}) as well as a Wolfram syndrome-like phenotype ({614296}) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy.\n\n<Subhead> Genetic Heterogeneity of Wolfram Syndrome\n\nWolfram syndrome-2 (WFS2; {604928}) is caused by mutation in the CISD2 gene ({611507}) on chromosome 4q24." +222350,"In the course of studying urinary diamines in patients with neurologic disorders and the cystine-lysine pattern of amino aciduria, {1:Berry et al. (1979)} described a new defect in lysine metabolism. A 20-year-old woman with seizures, progressive cortical degeneration and cystine-lysinuria was found to have greater than 50-fold elevation of 1,5-diaminopentane (cadaverine). Lysine-loading produced changes in the EEG and marked elevation in urinary excretion of diaminopentane. {2:Ross et al. (1981)} also studied this patient and a second younger patient, also female. Progressive loss of motor and intellectual abilities, ataxia, and spasticity began in early childhood. Often during urinary tract infections, deterioration was noted. {2:Ross et al. (1981)} proposed that neurologic dysfunction in cystine-lysinuria may be due to production of cadaverine and putrescine by bacterial enzymatic conversion of lysine and ornithine in the gut and infected urine. Neomycin, by altering the intestinal flora, may lessen the neurologic injury." +222400,"For a general phenotypic description and a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 ({142340})." +222448,"The faciooculoacousticorenal (FOAR) syndrome was first described as comprising facial anomalies, ocular anomalies, sensorineural hearing loss, and proteinuria. Facial features include prominent brow, short nose, and hypertelorism, and ocular anomalies include myopia, iris hypoplasia, and/or retinal detachment ({13:Regenbogen and Coscas, 1985}). Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, and sensorineural deafness. The classic distinguishing features between the 2 disorders were presence of proteinuria and absence of diaphragmatic hernia and corpus callosum anomalies in FOAR ({4:Donnai and Barrow, 1993}). However, early reports noted that the 2 disorders shared many phenotypic features and may be identical (e.g., {3:Devriendt et al., 1998}). Although there is variability in the expression of some features (e.g., agenesis of the corpus callosum and proteinuria), the disorders are now considered to represent the same entity ({8:Kantarci et al., 2007})." +222470,"Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients (summary by {3:Fabre et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Trichohepatoenteric Syndrome\n\nTrichohepatoenteric syndrome-2 (THES2; {614602}) is caused by mutation in the SKIV2L gene ({600478}) on chromosome 6p21." +222500,In this condition the spinal cord is divided longitudinally in the anteroposterior plane by a fibrous or bony structure. The cases are usually isolated but affected sisters were reported by {3:Kapsalakis (1964)}. {2:Gardner (1973)} described a family in which 3 sisters had diastematomyelia and other dysraphic malformations in various combinations.\n\n{1:Balci et al. (1999)} reported 2 sisters with diastematomyelia with variable expressivity. They suggested that X-linked dominant inheritance with lethality in hemizygous males or female sex preference of a multifactorial trait may explain the fact that all reported familial cases have been female. +222690,"{3:Whelan and Scriver (1968)} reported a French-Canadian kindred in which 13 members had excessive dibasic amino aciduria of lysine, ornithine, and arginine. Inheritance was autosomal dominant. Plasma levels of these amino acids were normal. All were asymptomatic, except the proband who had mild intestinal malabsorption.\n\n{2:Kihara et al. (1973)} described a presumed homozygote. The parents were first cousins of Italian extraction. Both parents and 9 other family members in 4 generations showed excretion patterns consistent with the heterozygous state. The homozygote was institutionalized because of mental retardation. She showed adverse reactions to 3 phenothiazines.\n\n{1:Bergeron and Scriver (1985)} suggested that there are 2 autosomal recessive, probably nonallelic types of dibasic amino aciduria. Type I, described here, presents as profound mental retardation without hyperammonemia or protein intolerance. Heterozygotes have modest dibasic amino aciduria. Type II, also known as lysinuric protein intolerance (LPI; {222700}) is most prevalent in Finns. Homozygotes have protein intolerance, hyperammonemia, and failure to thrive. Heterozygotes do not have amino aciduria." +222700,"Lysinuric protein intolerance is caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in kidney and intestine. Metabolic derangement is characterized by increased renal excretion of CAA, reduced CAA absorption from intestine, and orotic aciduria ({1:Borsani et al., 1999}).\n\nSee also dibasic amino aciduria I ({222690})." +222748,"DPYS deficiency is an autosomal recessive disease characterized by the presence of dihydropyrimidinuria. The clinical phenotype is highly variable, ranging from early infantile onset of severe neurologic involvement, dysmorphic features, and feeding problems to late onset of mild intellectual disability and even asymptomatic individuals. Patients with a complete or partial deficiency have an increased risk of developing severe toxicity after administration of the anticancer drug 5-fluorouracil (5-FU) (summary by {4:Nakajima et al., 2017}).\n\nSee also dihydropyrimidine dehydrogenase deficiency ({274270}), a similar disorder." +222765,"Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 ({215100}) is the most frequent form of RCDP (summary by {13:Wanders and Waterham, 2005}). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency ({14:Waterham and Ebberink, 2012}).\n\nFor a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}." +223000,Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. +223100,"In humans, the activities of lactase and most of the other digestive hydrolases are maximal at birth. The majority of the world's human population experiences a decline in production of the digestive enzyme lactase-phlorizin hydrolase during maturation, with the age of onset ranging from the toddler years to young adulthood. Due to the reduced lactase level, lactose present in dairy products cannot be digested in the small intestine and instead is fermented by bacteria in the distal ileum and colon. The fermentative products result in symptoms of diarrhea, gas bloat, flatulence, and abdominal pain. However, in a minority of adults, high levels of lactase activity persist in adulthood. Lactase persistence is a heritable autosomal dominant condition that results in a sustained ability to digest the milk sugar lactose throughout adulthood ({47:Olds and Sibley, 2003})." +223200,"{2:Donnai and Winter (1989)} presented examples of 5 fetuses and 1 newborn with abnormalities difficult to explain on the basis of amniotic bands (see {217100}) and suggested that these may result from a mutant gene, the homolog of the mouse mutant 'disorganization' (Ds). The mouse mutant is a semidominant with variable expression in heterozygotes and lethality in homozygotes ({4:Hummel, 1959}). {2:Donnai and Winter (1989)} reviewed the features of the mouse mutation including the high frequency of limb duplications, usually involving a single limb; polydactyly, sometimes of high degree and undifferentiated; and limbs originating from abnormal sites. Human cases of the same nature were collected from the literature and a new case was added. {16:Winter and Donnai (1989)}, in reporting a patient with striking congenital defects including 9 toes on the right leg and a fingerlike structure arising from the abdomen, suggested that such cases may represent the human homolog of mice heterozygous for the single 'disorganisation' (Ds) semidominant gene. {8:Lin (1991)} presented another proposed example.\n\n{12:Petzel and Erickson (1991)} suggested that the 'disorganisation' mutation is responsible for the findings in patients with duplications of internal organs and external structures of the lower half of the body that have traditionally been explained as incomplete twinning.\n\nA statistical analysis suggested to {1:Crosby et al. (1993)} that occurrence of anomalies in mice with the Ds mutation follows a Poisson distribution. Their results further suggested that congenital anomalies in mice with this mutation occur independently of each other. {1:Crosby et al. (1993)} proposed that Ds causes a heritable predisposition to congenital anomalies and that Ds combined with appropriate somatic events compromises normal development. They also proposed that some sporadic, nonheritable congenital anomalies involve somatic mutations at Ds-like loci. They pictured some typical anomalies including polydactyly of the limb of the duplication type ({135750}, {188740}). The parallelism to the Knudson hypothesis for cancer is obvious. In that case also, the statistical approach demonstrating a Poisson distribution for the number of tumors per eye for retinoblastoma ({6:Knudson, 1971}) or per kidney for Wilms tumor ({7:Knudson and Strong (1972)}) supported a random distribution for a second hit.\n\n{9:Lowry and Yong (1991)} described 2 Chinese brothers with cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. One had aberrant digital appendages on the heel and thigh, whereas the other had an anterior sacral meningocele and dislocated hip. Intelligence was normal in both. Both boys suffered from functional constipation, but biopsy studies showed no evidence of Hirschsprung disease. The parents were normal and unrelated. {9:Lowry and Yong (1991)} suggested that this mutation might be homologous to 'disorganisation,' located on chromosome 14 of the mouse ({3,4:Hummel, 1958, 1959}).\n\n{15:Robin et al. (1993)} reported 2 unrelated patients with malformations similar to those in mice with the Ds mutation. The first case had a body wall defect, limb malformations and hamartoma, while the second case had a partially duplicated foot, as well as other anomalies. They discussed the findings in relation to the 2-hit hypothesis of {1:Crosby et al. (1993)}: that there is a heritable predisposition and that a 'second hit,' either somatic mutation or an epigenetic event, determines the type of malformation. They considered the hypothesis attractive because it explained both the low penetrance and the variable expression of the Ds mutation.\n\n{17:Woods et al. (1995)} described a male infant with a partial foot with 2 toes arising from the right buttock, hypoplasia of the right leg and right foot, absence of the right kidney, and severe hypoplasia of the right common iliac artery. The infant's karyotype was 47,XXY. {17:Woods et al. (1995)} discussed a possible role of arterial hypoplasia in the origin of limb underdevelopment.\n\n{11:Onal et al. (2005)} reported a newborn infant with defects similar to those seen in mice heterozygous for the mutant Ds gene. The child had left popliteal webbing, left iliac bone hypoplasia, bifid scrotum, hypospadias, chordee deformity of the penis, and a sacral dimple. Other anomalies included absence of the right kidney and a hamartomatous tubular skin pedicle on the left thigh. No obvious amniotic bands or oligohydramnios were noted. The similarity between the proband's anomalies, those in previously reported cases, and those found in mice supported the possibility of a human homolog of the Ds gene.\n\n{5:Isidor et al. (2009)} reported 6 patients with congenital pedicle skin hamartomatous lesions. Two patients showed a single skin pedicle lesion; 1 of these was shown to have 22q11.2 deletion, and 4 patients had, in addition to the single skin pedicle, severe limb anomalies for which they were originally diagnosed with amniotic band sequence ({217100}). {5:Isidor et al. (2009)} proposed that all of these infants instead showed various forms of a phenotype resembling Ds in the mouse and suggested that this phenotype may be associated with apparent amniotic band syndrome. They proposed calling this 'amniotic band syndrome plus.' All patients were the children of nonconsanguineous parents. Patient 1 of {5:Isidor et al. (2009)} had multiple anomalies including limb defects, constriction rings, partial syndactyly, and a pedicle skin lesion on the occipital region. The skin pedicle was removed at 12 months of age and showed a tuberous hamartomatous lesion. Patient 2 had multiple anomalies including limb defects and a pedicle skin lesion on the vertex; a pedicular skin lesion on the vertex had also been present in the maternal grandfather and great-grandfather. Constriction rings were present on the proximal phalanx of the second, third, and fourth digits of the left hand, with distal amputation of the last phalanx of the index finger. Lower limbs were normal except for equinovarus feet. Patient 3 had multiple limb anomalies, constriction rings, and a pedicle skin lesion on the back. A pedicular skin lesion was also present at the external side of the right ankle with a hemicircumferential constriction ring. Patient 4 had a right cleft lip, detected by ultrasound at 20 weeks' gestation, as well as limb defects, constriction rings, partial syndactyly, and a pedicle skin lesion on the head. Patient 5 had a lumbar fingerlike pedicle and bifid uvula. Spinal cord MRI was normal apart from this pedicle skin lesion at the level of L2-L3 which seemed to be linked to L4 by a fibrous tract. At 6 years of age, nasal speech and speech delay were noted. Physical exam showed small round ears, small mouth, and iris heterochromia. Brain MRI showed frontal polymicrogyria. Chromosome and FISH analyses were performed and showed a 46,XX karyotype with 22q11.2 microdeletion. Patient 6 had a dorsal fingerlike pedicle. Examination was otherwise normal apart from a single palmar crease on the left hand. Axial skeleton x-ray showed 11 pairs of ribs. MRI showed absence of fusion of the posterior arch of S1. Except for the patient with 22q11.2 microdeletion, neurologic examination and psychomotor development was normal.\n\n{13:Purandare et al. (2009)} reported 4 patients with developmental anomalies seen in amniotic band sequence, with additional anomalies that could not be explained by amniotic bands alone. The anomalies seen in their patients included facial malformation and clefting, brain anomalies (encephalocele, agenesis of the corpus callosum, holoprosencephaly), eye anomalies (anophthalmia, microphthalmia, and microcornea), and extremity and digit anomalies (talipes equinovarus, syndactyly). Other phenotypic features included genitourinary anomalies (hydronephrosis and abnormal testes, epididymis, and seminal vesicles) and skin appendages similar to those seen in Ds mice. Presence of amniotic bands in addition to malformations not attributed to amniotic bands were seen in 3 of 4 patients. {13:Purandare et al. (2009)} concluded that the 4 patients in their report had involvement of at least 4 organ systems, including the skin appendages, that had been reported in the Ds mouse, and had clinical findings that overlap the spectrum of Ds and amniotic band sequence. Patient 1 had anterior encephalocele, hypertelorism, Tessier 4-5 facial cleft, bilateral microphthalmia, and microcornea, rudimentary nose, talipes equinovarus, and skin appendages/hamartomas near the right eye and over the right forearm. The patient expired on day 4 of life due to respiratory complications. Patient 2 had left superior facial disruption of the nose and midline facial structures by amniotic bands including severe clefting of the midline external soft tissues and bony structures. There was amputation of the left upper extremity at the level of the distal humerus. Various brain anomalies included frontal encephalocele, periventricular leukomalacia, and agenesis of the corpus callosum. This patient survived a few hours. Patient 3, who survived for 57 minutes, had a large omphalocele with amniotic bands attached to the umbilical cord. This band attached at the opposite end to the tip of a cutaneous polyp on the inner surface of the right upper arm. Cleft lip and palate, disruption of the nose, and disruption and displacement of the eyes with anophthalmia/microphthalmia was also seen. The base of the skull was abnormal and had a shallow sella turcica with absent pituitary. An ectopic pituitary was present in the nasopharyngeal submucosa. The karyotype of the fourth patient, delivered as spontaneous intrauterine fetal demise, showed mosaicism for trisomy 3. There were severe facial clefts involving palate, lip, nose, and right eyelid. There was a left-sided body wall defect from left pleural apex to sacral level and from midline to posterior body wall with absence of the left chest wall. The left upper extremity was attached near the dorsal pelvis." +223300,{1:Ekbom (1966)} described 4 families in which multiple members had multiple sclerosis. In 3 of the 4 families one or more affected persons also had narcolepsy. No consanguinity was found. +223320,"{1:Andersen et al. (1988)} reported a family in which 6 of 8 sibs had small-intestinal diverticula. Three of them had multiple jejunoileal diverticula, 1 had 2 jejunal diverticula, and 2 had duodenal diverticula. Four of the sibs had diseases of an immunologic nature: rheumatoid arthritis, ulcerative colitis, myxedema following thyroiditis, and nonviral hepatitis. Rheumatoid arthritis was present in 1 of the sibs who had no small-intestinal diverticula. The affected sibs (2 female and 4 male) varied in age from 64 to 80 years at the time of investigation.\n\n{2:McKusick (1988)} reported a 44-year-old patient with well-confirmed type IV Ehlers-Danlos syndrome ({130050}) who had numerous small intestinal diverticula as well as probable bladder diverticula. Arterial fragility, cutaneous fragility, and bruisability were relatively inconspicuous, but there was joint hyperextensibility, stretchable skin, and valvular cardiac disease. The patient had had gastrointestinal bleeding and epistaxis. He also had arthritis and a papillonodular dermatosis related, apparently, to the process going on in the diverticula." +223360,"Orthostatic hypotension-1 (ORTHYP1) is an autosomal recessive disorder characterized by profound autonomic failure. In addition to severe orthostatic hypotension, ptosis, nasal stuffiness, impaired ejaculation, and a neonatal history of delayed eye opening are frequent findings. Biochemical features include undetectable tissue and circulating levels of norepinephrine and epinephrine, elevated levels of dopamine, and undetectable levels of dopamine beta-hydroxylase (summary by {9:Kim et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Orthostatic Hypotension\n\nSee also ORTHYP2 ({618182}), caused by mutation in the CYB561 gene ({600019}) on chromosome 17q11." +223380,"The thermal stability of human plasma dopamine-beta-hydroxylase (DBH) shows wide variability. Individuals can be classified into those with thermolabile DBH and those with thermostable DBH. Of 362 unrelated children, 8.01% had thermolabile plasma DBH; of 238 unrelated adults, 5.46% had thermolabile plasma DBH. No correlation with age and sex was noted. Subjects with thermolabile DBH had basal enzyme levels about 55% of those in subjects with stable enzyme. No direct relationship was found between DBH thermolability and the DBH(L) allele, which results in very low basal enzyme activity. The trait of DBH thermolability showed significant familial aggregation, raising the possibility of autosomal recessive inheritance; however, in 3 families in which both parents had thermolabile enzyme, at least 1 offspring with thermostable enzyme was observed. Each of these 'exceptions' had very low basal plasma DBH, due presumably to homozygosity for the DBH(L) allele. The authors suggested that DBH thermolability may be inherited and that there is interaction between the locus for thermostability and that for DBH." +223400,"{4:Mishalany et al. (1970)} described 2 children with duodenal atresia, all 4 parents of whom were descendants from one couple related as first cousins. {5:Mishalany et al. (1971)} then reported that a third affected child had been born in this kindred. {2:Der Kaloustian et al. (1974)} reported yet another affected child. See jejunal atresia ({243600}). {1:Best et al. (1989)} described 2 families: in 1, a son and daughter of unrelated parents were affected; in the second, 2 sons of a consanguineous marriage were affected as well as the daughter of 1 of the affected males. In a 10-year survey of 65 hospitals by the surgical section of the American Academy of Pediatrics, 503 patients were identified with congenital duodenal atresia; 13 instances of intestinal atresia in sibs were found, with 4 sibs affected in 1 family ({3:Fonkalsrud et al., 1969})." +223550,{2:McKusick (1966)} reported on a woman with proportionate dwarfism and bilateral dislocated hips. She was the product of a first-cousin marriage; her great-grandmother (through whom her parents were related) was dwarfed also. The patient died following surgery for rheumatic heart disease. {1:Fuhrmann (1972)} reported sisters with proportionate dwarfism and dislocation of the hip. The vertebral bodies showed columnization (greater height than AP dimension). +223800,"Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests (summary by {6:El Ghouzzi et al., 2003})." +223900,"Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age. HSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by {36:Morini et al., 2016}).\n\nFor a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 ({162400})." +224000,"{1:Schmidt et al. (1970)} concluded that the disorder they observed in 2 daughters of a Sephardic uncle-niece marriage was a disorder distinct from familial dysautonomia, which, of course, occurs mainly in Ashkenazim. In these patients mental retardation and normal taste, fungiform papillae, histamine test, and urinary VMA excretion differentiate the condition. See neuropathy, congenital sensory, with anhidrosis ({256800}), another dysautonomia-like condition." +224050,"CAMRQ1 is an autosomal recessive disorder characterized by congenital nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia ({24:Schurig et al., 1981}; {7:Glass et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of CAMRQ\n\nCAMRQ is a genetically heterogeneous disorder. See also CAMRQ2 ({610185}), caused by mutation in the WDR81 gene (614218) on chromosome 17p; CAMRQ3 ({613227}), caused by mutation in the CA8 gene ({114815}) on chromosome 8q11; and CAMRQ4 ({615268}), caused by mutation in the ATP8A2 gene ({605870}) on chromosome 13q12." +224120,"CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis ({15:Tamary et al., 2005}). Striking morphologic abnormalities of erythroblasts, reviewed by {22:Wickramasinghe and Wood (2005)}, include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy.\n\nFour types of CDA, all of which show show ineffective erythropoiesis and multinuclear erythroblasts, have been characterized by clinical and hematopoietic findings. The classification of the first 3 types is based on that described by {20:Wendt and Heimpel (1967)}. Type I is characterized by megaloblastic changes. Type II ({224100}), which is more common, is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (see, e.g., {105600}) has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV ({613673}) is the designation given to a form of CDA with characteristics different from those of types I, II, and III ({21:Wickramasinghe et al., 1991}; {2:Arnaud et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Congenital Dyserythropoietic Anemia\n\nCDAN1B ({615631}) is caused by mutation in the CDIN1 gene ({615626}) on chromosome 15q14; CDAN2 ({224100}) is caused by mutation in the SEC23B gene ({610512}) on chromosome 20p11; CDAN3A ({105600}) is caused by mutation in the KIF23 gene ({605064}) on chromosome 15q23; CDAN3B ({619789}) is caused by mutation in the RACGAP1 gene ({604980}) on chromosome 12q13; and CDAN4 ({613673}) is caused by mutation in the KLF1 gene ({600599}) on chromosome 19p13.\n\nFor a possible additional form of CDA type I, see {603529}." +224230,"Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by {7:Kirwan and Dokal, 2008}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550})." +224400,"The dyssegmental dysplasias are lethal forms of neonatal short-limbed dwarfism. {6:Handmaker et al. (1977)} coined the term 'dyssegmental dysplasia' because of the marked differences in size and shape of the vertebral bodies (anisospondyly), which he attributed to errors in segmentation. {3:Fasanelli et al. (1985)} proposed that there are different forms of dyssegmental dwarfism, a lethal Silverman-Handmaker type ({224410}) and a less severe Rolland-Desbuquois type. The Rolland-Desbuquois form is lethal in about 40% of patients. Although many patients survive beyond the newborn period, all exhibit neonatal distress (summary by {7:Hennekam et al., 2010})." +224410,"Silverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage (summary by {2:Arikawa-Hirasawa et al., 2001})." +224500,"Torsion dystonia-2 is an autosomal recessive neurologic disorder characterized by onset of symptoms in childhood or adolescence. 'Dystonia' is characterized by involuntary, sustained muscle contractions affecting 1 or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. DYT2 first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. DYT2 is slowly progressive but mild overall (summary by {13:Muller and Kupke, 1990}; {14:Nemeth, 2002}; {10:Khan et al., 2003})." +224550,"A nonprogressive disorder with multiple mild flexion contractures developing in infancy was described in 2 brothers by {1:Fenichel et al. (1971)}. Motor strength was normal. Lower limb tendon reflexes were exaggerated but plantar responses were flexor. Associated findings were borderline normal intelligence, speech defect, choreic movements of the outstretched hands, normal cranial nerve, sensory and cerebellar functions, and EEGs indicating paroxysmal disorder. CPK was elevated in the younger boy. Muscle biopsies showed decreased fiber size, especially of the ATPase positive type (A fibers), increased amounts of PAS positive material, and 'Ringbinden,' without typical myopathic or neuropathic changes. The authors interpreted the findings as the result of a primary cerebral disorder." +224690,"The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by {16:Shalev and Hall, 2003}). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal ({1:Bicknell et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Meier-Gorlin Syndrome\n\nMost forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 ({613800}), caused by mutation in the ORC4 gene ({603056}) on chromosome 2q23; Meier-Gorlin syndrome-3 ({613803}), caused by mutation in the ORC6 gene ({607213}) on chromosome 16q11; Meier-Gorlin syndrome-4 ({613804}), caused by mutation in the CDT1 gene ({605525}) on chromosome 16q24; Meier-Gorlin syndrome-5 ({613805}), caused by mutation in the CDC6 gene ({602627}) on chromosome 17q21; Meier-Gorlin syndrome-7 ({617063}), caused by mutation in the CDC45L gene ({603465}) on chromosome 22q11; and Meier-Gorlin syndrome-8 ({617564}), caused by mutation in the MCM5 gene ({602696}) on chromosome 22q12.\n\nAn autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 ({616835}), is caused by mutation in the GMNN gene ({602842}) on chromosome 6p22." +224700,"Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right ventricle. The valve leaflets may be dysplastic, and a variable portion of the proximal part of the right ventricle is in continuity with the right atrium ('atrialized'), because of the abnormally positioned tricuspid valve. The severity of this defect includes a spectrum ranging from severe disturbance in fetal and neonatal life to virtually asymptomatic survival to adult life. Associated extracardiac anomalies in the setting of chromosomal or mendelian disorders occur in about 20% of patients with Ebstein anomaly. Nonsyndromic Ebstein anomaly can occur as a sporadic or a familial defect (summary by {3:Digilio et al., 2011})." +224750,"Schopf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive disorder characterized by a constellation of multiple eyelid cysts, hypodontia, hypotrichosis, palmoplantar hyperkeratosis, and onychodystrophy (summary by {7:Mallaiah and Dickinson, 2001})." +224800,"{1:Mikaelian et al. (1970)} described brother and sister whose parents were first cousins and who had hidrotic ectodermal dysplasia, sensorineural hearing loss (due probably to a defect of cells of the organ of Corti which are of ectodermal origin), and contracture of the fifth fingers. The sister also had thoracic scoliosis." +224900,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {1:Cluzeau et al., 2011})." +225040,"Among the children of healthy nonconsanguineous parents, {2:Fryns et al. (1989)} described a boy with severe mental retardation, hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum. A thyroid scintigram with technetium 99 showed absence of normal thyroid gland tissue and the presence of an ectopic goiter at the base of the tongue. Low T3 and T4 and elevated TSH confirmed the clinical suspicion of hypothyroidism and demonstrated its primary nature. {3:Soekarman and Fryns (1993)} described an 8-year-old boy who presumably had the same disorder. The boy was born with a Pierre Robin sequence, and feeding problems were present from birth. He had recurrent respiratory tract and eye infections. He was severely mentally retarded and had cerebellar hypoplasia. A specific facies included frontal bossing, hypoplasia of the maxilla, hypertelorism, protruding tongue, low-set ears, and tooth anomalies. The patient reported by {2:Fryns et al. (1989)} had a similar facial appearance, swallowing difficulties, and frequent respiratory tract and eye infections. He too had enlarged lateral ventricles on his CT scan. {1:Devriendt et al. (1996)} reported a similarly affected 3-year-old hypotonic boy with severe mental retardation, macrocephaly, agenesis of the corpus callosum, small cerebellum, ptosis of the eyelids, low set ears, retrognathia, microdontia with enamel defects, pectus excavatum, supernumerary nipples, long slender fingers, and hypoplastic scrotum. His mother was mildly mentally retarded and had macrocephaly, midface hypoplasia, retrognathia, and long slender fingers, but no evidence of ectodermal dysplasia.\n\nThis disorder and that discussed in {225050} may be X-linked and may represent a contiguous gene syndrome." +225100,"Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment ({6:Greene et al., 2010}).\n\nAn autosomal dominant form of isolated ectopia lentis (ECTOL1; {129600}) is caused by mutation in the FBN1 gene ({134797}).\n\nEctopia lentis is a hallmark of several well-known syndromes, e.g., Marfan syndrome ({154700}), Weill-Marchesani syndrome (see {277600}), and homocystinuria ({236200})." +225200,"Ectopia lentis et pupillae is a congenital hereditary disorder in which there is displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions (summary by {5:Cruysberg and Pinckers, 1995}). Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disc, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy (summary by {3:Christensen et al., 2010})." +225280,"EEM syndrome denotes a disorder characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy. The ectodermal dysplasia consists of hypotrichosis affecting scalp hair, eyebrows, and eyelashes, with partial anodontia. Different degrees of absence deformities as well as syndactyly have been described, the hands often being more severely affected than the feet. The retinal lesion appears as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels (summary by {4:Kjaer et al., 2005})." +225290,"{1:Van Regemorter et al. (1982)} reported polydactyly and ectrodactyly in a sibship of 4 children. One boy and one male twin had postaxial polydactyly, while the male monozygotic cotwin had a lobster-claw deformity of the right foot and the fourth child, a girl, had absence of the phalanges of the right hand. They pointed to one previously reported family as probably identical." +225300,"Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting ({2:Elliott and Evans, 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 ({183600})." +225400,"The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The major characteristics of kyphoscoliotic-type EDS are severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe ({2:Beighton et al., 1998}).\n\nNevo syndrome, previously thought to be a distinct entity, is identical to EDS type VI ({29:Voermans et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Ehlers-Danlos Syndrome, Kyphoscoliotic Type\n\nSee EDSSKCL2 ({614557}), caused by mutation in the FKBP14 gene ({614505}).\n\n<Subhead> Classification of Ehlers-Danlos Syndromes\n\nThe current classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by {17:Malfait et al. (2017)}, which recognizes 13 EDS subtypes. This classification revised the 'Villefranche classification' reported by {2:Beighton et al. (1998)}.\n\n{2:Beighton et al. (1998)} reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, including a category of 'unspecified forms.'" +225410,"Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was first observed in cattle ({8:Lapiere et al., 1971}). {9:Lapiere and Nusgens (1993)} reviewed the discovery of dermatosparaxis in cattle, the elucidation of the disorder, its occurrence in other animals, and the delayed recognition of the disorder in the human." +225500,"Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals (summary by {34:Ruiz-Perez et al., 2000}).\n\nThe clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene ({604831}) or in the EVC2 gene ({607261}) ({35:Ruiz-Perez et al., 2003}, {17:Galdzicka et al., 2002})." +225750,"Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1; {147660}), and negative serologic investigations for common prenatal infections ({5:Ali et al., 2006}). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process ({9:Crow et al., 2006}).\n\nIn a review of AGS, {26:Stephenson (2008)} noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.\n\nCree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome ({251290}), which shows phenotypic overlap and may in some cases represent AGS ({10:Crow et al., 2000}; {8:Crow et al., 2003}). AGS is distinct from the similarly named Aicardi syndrome ({304050}), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities.\n\n<Subhead> Genetic Heterogeneity of Aicardi-Goutieres Syndrome\n\nSee also AGS2 ({610181}), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B; {610326}) on chromosome 13q14; AGS3 ({610329}), caused by mutation in the RNASEH2C gene ({610330}) on chromosome 11q13; AGS4 ({610333}), caused by mutation in the RNASEH2A gene ({606034}) on chromosome 19p13; AGS5 ({612952}), caused by mutation in the SAMHD1 gene ({606754}) on chromosome 20q11; AGS6 ({615010}), caused by mutation in the ADAR1 gene ({146920}) on chromosome 1q21; AGS7 ({615846}), caused by mutation in the IFIH1 gene ({606951}) on chromosome 2q24; AGS8 ({619486}), caused by mutation in the LSM11 gene ({617910}) on chromosome 5q33; and AGS9 ({619487}), caused by mutation in the RNU7-1 gene ({617876}) on chromosome 12p13." +225753,"Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. Pontocerebellar hypoplasia type 4 (PCH4) is characterized by severe course and early lethality ({2:Budde et al., 2008}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596})." +225755,"{1:Billard et al. (1989)} described apparently monozygotic twins (their patients 13 and 14) who suffered from mild and nonprogressive mental retardation without motor deficit or visual disorders, but with moderate dysmorphia, craniosynostosis, and small stature due to growth hormone deficiency. CT scan showed dense calcifications of the inner aspects of the lenticular nuclei and ventricular dilatation.\n\n{2:Bonnemann et al. (1991)} described 2 sibs with an encephalopathy, including intracerebral calcification and white matter lesions, dwarfism owing to growth hormone deficiency, and retinal degeneration. The onset of the disease in both sisters occurred with retardation of motor development during the first year of life. Later, dwarfism, mental retardation, spasticity, ataxia, and retinal degeneration became apparent. Differentiation from Cockayne syndrome (see {216400}) is essential." +225790,"The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by {6:Meyer et al., 2010}). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development ({4:Kvarnung et al., 2016})." +226000,"{14:Weinberg and Himelfarb (1943)} first introduced the term endocardial fibroelastosis, although the disorder had been described under other designations before. The reports of EFE in sibs include those of {16:Winter et al. (1960)}, {17:Zanker and Fisher (1960)}, {13:Vestermark (1962)} and {6:McKusick (1962)}.\n\n{7:Moller et al. (1966)} described EFE in a young woman who died of heart failure during the postpartum period and in the child who was born of that pregnancy and died at 11 months of age. Either genetic causation or viral infection was suggested.\n\nAmong the children of first-cousin parents, {9:Rafinski et al. (1967)} observed 3 who died of EFE at ages 10, 11 and 13 years, which is longer survival than usual. Although the accumulated experience strongly supports the existence of an autosomal recessive variety of EFE, many cases may occur on a nongenetic basis. EFE is called primary or secondary according to whether malformations are not or are associated. {3:Hunter and Keay (1973)} described a family in which 2 sisters had 5 affected children, one having affected children by different husbands. Autosomal dominant inheritance with incomplete penetrance was suggested.\n\n{11:Rosenquist et al. (1972)} attempted, without success, to implicate circulating maternal antiheart antibody as a possible etiology. They studied 2 mothers, each of whom had had 2 affected infants.\n\n{15:Westwood et al. (1975)} described a family in which there were affected dizygotic female twins, and in another family, an affected half brother and sister with the same father.\n\n{4:Jennings et al. (1980)} described 2 brothers with EFE, unusual facial appearance, and cryptorchidism. One died at 4 weeks of age. The surviving brother was mentally retarded with seizures.\n\n{8:Opitz (1982)} discussed the genetics of EFE. EFE is sometimes a manifestation of systemic carnitine deficiency ({212140}). The occasional families suggesting autosomal recessive inheritance will probably be found to be examples of this or some other form of metabolic cardiomyopathy." +226100,{1:Hallidie-Smith and Olsen (1968)} described a girl and her 2 affected brothers. Mitral regurgitation was present. The parents were not related. +226150,"{1:Fried and Vure (1974)} described an Ashkenazi family in which 3 of 4 children died with an almost identical syndrome. Within a week or so of birth, bloody diarrhea with swelling of the abdomen had its onset. All 3 died in a few weeks. Autopsy showed ulcerative colitis in two and pseudomembranous enterocolitis in the third. The parents were second cousins.\n\n{2:Megarbane and Sayad (2007)} reported a consanguineous Lebanese family in which 3 of 4 sibs had severe early and lethal enterocolitis. The first infant, a girl, passed meconium 24 hours after birth but subsequently developed marked abdominal distention; intestinal biopsy showed diffuse necrosis and no aganglionosis. She died at 1 week of age with abdominal distention and cyanosis. The second infant, also a girl, passed meconium 12 hours after birth but developed abdominal distention, pallor, and hypotonia at 6 days. Alimentation was stopped, antibiotics were started, and she recovered within 2 days. She was readmitted at 22 days with metabolic acidosis, severe shock, cyanosis, and abdominal distention and died due to cardiovascular failure 12 hours later. The third sib was a boy who presented with severe vomiting, abdominal distention, and absence of meconium at 24 hours after birth. He improved when alimentation was stopped and passed meconium at day 5. He developed abdominal distention whenever alimentation was restarted, and was eventually treated with 1 month of parenteral feeding, after which alimentation was gradually reintroduced. Laboratory examination showed a decrease in the proliferation of cytotoxic T cells; brain MRI revealed absence of the corpus callosum. Two months later, he died suddenly, possibly from a urinary tract infection. Postmortem examinations were not permitted by the parents." +226200,"Deficiency of enterokinase, a sequence-specific protease that activates trypsinogen (see {276000}) and has a major role in protein digestion, is an autosomal recessive disorder characterized by severe protein malabsorption in early infancy, with failure to thrive, chronic diarrhea, and generalized edema. In adulthood, patients have normal body weight and no gastrointestinal symptoms, even when pancreatic enzyme supplements are discontinued (summary by {6:Holzinger et al., 2002})." +226300,"Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a ({2:Ozen et al., 2017})." +226350,"{1:Thomson et al. (1989)} described a brother and sister, aged 33 and 38 years, respectively, who developed eosinophilic fasciitis within a period of 6 months. They were found to have identical HLA-A, -B, -DR, and -DQ antigens. No common environmental factors close to the time of onset were identified." +226400,"Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer. EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas (summary by {14:Ramoz et al., 2000}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Epidermodysplasia Verruciformis\n\nSusceptibility to EV2 ({618231}) is conferred by mutation in the TMC8 gene ({605829}) on chromosome 17q25; EV3 ({618267}) by mutation in the CIB1 gene ({602293}) on chromosome 15q26; EV4 ({618307}) by mutation in the RHOH gene ({602037}) on chromosome 4p13; and EV5 ({618309}) by mutation in the IL7 gene ({146660}) on chromosome 8q12." +226440,"The various forms of epidermolysis bullosa can be classified into 3 major histologic groups: epidermolytic, junctional, and dermolytic. Distribution of lesions, extracutaneous manifestations, age of onset, and inheritance further divide these types into many subtypes. {4:Nakar et al. (1992)} described a brother and sister, born of healthy Bulgarian Jewish parents with no known consanguinity, who had late-onset epidermolysis bullosa localized to the anterior aspect of the legs associated with a defect of the dental enamel, dystrophic toenails, and mental retardation. Subluxation of the lenses was found in the only patient in whom complete ophthalmologic examination was performed. Both had a similar facial appearance including short midface and philtrum, prognathism, and thin vermilion border of the upper lip. The girl was born with a cleft palate. There was no homocystinuria. The skin lesions began at ages 7 and 9 years. The blistering lesions recurred especially in warm humid weather. A few blisters also appeared on the dorsal aspects of the hands and forearms. Reports suggesting the existence of an autosomal recessive form of epidermolysis bullosa were provided by {3:Heagerty et al. (1985)}, {2:Gamborg Nielsen and Sjolund (1985)}, and {5:Niemi et al. (1988)}. The school-age onset of skin blistering apparently of junctional type, associated with enamel defect and nail dystrophy, were features identical to those in the female offspring of first-cousin parents reported by {1:Anton-Lamprecht and Schnyder (1979)}. The histopathologic findings suggested degeneration of the basal layer with a subepidermal split and subepidermal bulla formation. The family reported by {5:Niemi et al. (1988)} appears to be different because of the associated muscular dystrophy and possibly more severe skin disease (see {226670})." +226500,"The features of this entity, delineated by {2:Gedde-Dahl (1971)}, are onset of localized traumatic blistering in late childhood or adolescence, onset of nail manifestations several years before the skin manifestations, diffuse and slowly progressive skin atrophy of hands, feet, elbows, knees, palms and soles, with loss of dermal ridge pattern of fingers, occasional blistering of oral mucosa and congenital, slowly progressive perceptive deafness. As quoted by {1:Fraser (1976)}, {3:Gedde-Dahl (1977)} subsequently found a family in the same rural population in which only the skin condition without the deafness was present and concluded that cutaneous and auditory phenotypes are produced by genes at separate but possibly closely linked loci. He has referred to the condition as recessive epidermolysis bullosa progressiva. It is apparently a distinct entity. Original observations by {2:Gedde-Dahl (1971)} concerned 3 patients in 2 families. {4:Gedde-Dahl (1984)} indicated that of 3 more EBP families subsequently ascertained in the same West-Norwegian rural population, only 1 had hypoacusis (50-60 decibels at age 5 years). A fourth family with the association was discovered. A lod score of +2.2 at theta = 0.0 was obtained for the 4 families. Linkage to the red hair locus ({266300}) was mentioned." +226600,"Autosomal recessive dystrophic epidermolysis bullosa is a severe skin disorder beginning at birth and characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane. This results in mutilating scarring and contractures of the hands, feet, and joints. Patients also developed strictures of the gastrointestinal tract from mucosal involvement, which can lead to poor nutrition. Affected individuals have an increased risk of developing aggressive squamous cell carcinoma ({15:Christiano et al., 1996}; {53:Varki et al., 2007}).\n\nAllelic disorders include autosomal dominant DEB (DDEB; 131750), in which the phenotype is less severe, and nonsyndromic congenital nail disorder-8 (NDNC8; {607523}), which has been found to segregate as an autosomal dominant trait in heterozygous carriers in some families with recessive DEB." +226650,"Intermediate junctional epidermolysis bullosa 1A (JEB1A) is an autosomal recessive blistering disease of skin and mucous membranes. Generalized trauma-induced blistering occurs from birth. Blistering is less severe than in severe JEB (see {226700}), usually without the tendency for developing chronic granulation tissue. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Nail dystrophy or loss and dental enamel defects are present. Scarring or nonscarring alopecia and diffuse hair loss may occur (summary by {7:Has et al., 2020}). Blistering does not affect the lifespan of affected individuals ({18:Pulkkinen and Uitto, 1998}; {22:Sybert, 2010}).\n\n<Subhead> Genetic Heterogeneity of Junctional Epidermolysis Bullosa\n\nAnother form of JEB that is caused by mutation in the LAMB3 gene is severe JEB1B ({226700}).\n\nForms of JEB caused by mutation in the LAMA3 gene ({600805}) are intermediate JEB2A ({619783}), severe JEB2B ({619784}), and laryngoonychocutaneous JEB2C ({245660}).\n\nForms of JEB caused by mutation in the LAMC2 gene ({150292}) are intermediate JEB3A ({619785}) and severe JEB3B ({619786}).\n\nIntermediate JEB4 ({619787}) is caused by mutation in the COL17A1 gene ({113811}).\n\nForms of JEB caused by mutation in the ITGB4 gene ({147557}) are intermediate JEB5A ({619816}) and JEB with pyloric atresia (JEB5B; {226730}).\n\nAnother form of JEB that includes pyloric atresia (JEB6; {619817}) is caused by mutation in the ITGA6 gene ({147556}).\n\nJEB with interstitial lung disease and nephrotic syndrome (JEB7; {614748}), also known as interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB), is caused by mutation in the ITGA3 gene ({605025}).\n\n<Subhead> Reviews\n\n{19:Pulkkinen and Uitto (1999)} reviewed the pathophysiology and phenotypic and genetic heterogeneity of epidermolysis bullosa." +226670,"Epidermolysis bullosa simplex with muscular dystrophy (EBS5B) is an autosomal recessive disorder characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes ({9:Fine et al., 1989}).\n\n{6:Fine et al. (1991)} reported a revised classification of the subtypes of inherited epidermolysis bullosa.\n\nIn reports of 2 consensus meetings on EB, {8,7:Fine et al. (2000, 2008)} referred to EB with muscular dystrophy due to PLEC1 mutations as a form of basal simplex EB. {8,7:Fine et al. (2000, 2008)} also eliminated the term 'hemidesmosomal,' which had previously been proposed for this entity ({20:Uitto et al., 1997}) because ultrastructural analysis can demonstrate tissue abnormalities of the hemidesmosomes.\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760})." +226700,"Severe junctional epidermolysis bullosa 1B (JEB1B) is an autosomal recessive skin blistering disorder characterized by extreme fragility of the skin and epithelia of various extracutaneous tissues. Blisters and erosions are present at birth. Blister formation occurs within the dermal-epidermal basement membrane zone. Patients usually die before 1 year of age (summary by {31:Takizawa et al., 1998}).\n\nFor a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A ({226650}).\n\n<Subhead> Reviews\n\n{26:Pulkkinen and Uitto (1999)} reviewed the pathophysiology and phenotypic and genetic heterogeneity of the various forms of epidermolysis bullosa." +226735,"Among the offspring of healthy first-cousin Moslem parents from the vicinity of Jerusalem, {1:Dudin and Thalji (1991)} described a son and daughter with congenital diaphragmatic hernia and epidermolysis bullosa, leading to death shortly after birth." +226750,"Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Impaired intellectual development is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life (summary by {12:Schossig et al., 2012} and {9:Mory et al., 2012}).\n\nSee also Kohlschutter-Tonz syndrome-like (KTZSL; {619229}), caused by heterozygous mutation in the SATB1 gene ({602075}) on chromosome 3p23." +226800,"{1:Daly et al. (1959)} reported a family in which 3 of 4 sibs had spastic diplegia and mental retardation. Photogenic eplilepsy was identified in 2 sibs under only artifical conditions, and 1 sib had ECG reponses as the sole consequence of photic stimulation. All 3 affected sibs, 16- and 14-year old boys and a 6-year-old girl, had developmental delay and early-onset ataxic gait. The brothers had IQs of 47 and 60. Epilepsy in the girl occurred in association with fever." +226810,"The association of bilateral occipital calcifications with epilepsy and, in most cases, with celiac disease has been recognized as a new syndrome, the etiology of which is unknown ({1:Gobbi et al., 1992}). {2:Tortorella et al. (1993)} described 17-year-old and 14-year-old Italian sisters who had familial calcifications with epilepsy but without celiac disease. Occipital calcifications were unilateral in one and bilateral in the other." +226850,"In 6 of 7 sibs of a Mexican family, {1:Aguilar et al. (1978)} described mental retardation, epilepsy, telangiectases limited to the palpebral conjunctiva, diminished serum IgA, and peculiar facies, including synophrys. The parents, who were not related, and 1 sib were normal." +226950,"In 3 sons of third-cousin parents, {1:Pfeiffer et al. (1973)} described a syndrome of femoral capital epiphyseal dysplasia, severe myopia, and deafness. Stature was normal. Although the femoral heads showed the most striking epiphyseal dysplasia, the changes were apparently not limited to that site. The authors found no reported case that seemed identical to these." +226960,"Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients ({2:Farach et al., 2018}; {9:Shelihan et al., 2018}).\n\nMicrocephalic osteodysplastic primordial dwarfism type I (MOPD1; {210710}) and Roifman syndrome (RFMN; {616651}), the features of which overlap with those of Lowry-Wood syndrome, are also caused by biallelic mutation in the RNU4ATAC gene." +226980,"Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis, and growth retardation develop at a later age. Other frequent multisystem manifestations include hepatic and renal dysfunction, mental retardation, and cardiovascular abnormalities (summary by {7:Delepine et al., 2000})." +226985,"In a 27-year-old man from Gaspe, Quebec, who was presumably French Canadian, {1:Aprikian et al. (1991)} described keratinizing squamous dysplasia of the epithelium of the entire urinary tract. Repeated urinary tract infections as a child led to full urologic investigation at the age of 9 years, showing cellular debris in the form of keratin squames. At that time endoscopy showed rigid, noncompliant urethra with white flakes of loose tissue scattered throughout the lumen. A urethral stone was found to be composed solely of keratin. Marked delay in growth and the abundant keratinuria prompted extensive medical evaluation which was unrevealing, however. Hypertelorism, pectus carinatum, and delayed development with normal intelligence were features. During adolescence, the patient was hospitalized on numerous occasions for renal colic, hematuria, and passage of keratin plugs. At age 27, he was 94.5 cm tall. The hands and feet were short with wide thumbs and short fifth finger. The photograph suggested type D brachydactyly ({113200}). The parents were first cousins. The mother, who was deceased, had the same structure of the hands and feet as the son." +226990,"Immunodeficiency-32B is an autosomal recessive primary immunodeficiency characterized by recurrent infections resulting from variable defects in immune cell development or function, including monocytes, dendritic cells, and natural killer (NK) cells. Patients have particular susceptibility to viral disease (summary by {4:Mace et al., 2017})." +227000,"In a brother and sister and a paternal first cousin of theirs, {1:Bryan and Coskey (1967)} described an asymptomatic, papular and plaquelike erythema appearing in infancy and involving the external ears and limbs. In the sibship of the affected sibs, 4 had clubfoot and dental anomalies." +227050,"Transient erythroblastopenia of childhood is a pure red cell aplasia that occurs in a previously healthy child, most commonly between 6 months and 4 years of age. The course is characterized by a complete recovery, usually within 1 to 2 months after diagnosis. In most cases no therapy is necessary, although some children may need red cell transfusion (summary by {2:Gustavsson et al., 2002})." +227090,"{1:Shield et al. (1992)} reported 4 patients and their extended families comprising 17 cases, all of whom had congenital exfoliative erythroderma resistant to treatment, associated with failure to thrive and hypoalbuminemia. All died in the first year of life. Three of the families had recognized consanguinity. In the fourth family, the parents were said to be nonconsanguineous but were a Turkish Cypriot couple coming from the same village. Other families were Turkish, Omani, and Pakistani. The erythroderma dated from birth, with no obvious nail or hair-shaft abnormalities." +227250,"{1:Jammes et al. (1973)} described 2 brothers with a new mental retardation syndrome characterized by macrocephaly, hypertelorism, downward slanted palpebral slits, protruding tongue, kyphoscoliosis, and marked difficulty walking. No parental consanguinity was noted." +227255,"In 2 female fetuses born of first-cousin Pakistani parents, {1:Thakker and Donnai (1991)} described a syndrome of facial dysmorphism and multiple anomalies. The first fetus was delivered after therapeutic termination at 26 weeks' gestation for multiple structural abnormalities identified on ultrasound scanning. The palpebral fissures were long, downward slanting and widely separated; the nose was short and bulbous tipped; the mouth was small with downturned corners; and the neck was short and webbed. Autopsy showed dilatation of the ventricular system, Klippel-Feil anomaly, transposition of the great vessels with ventricular septal defect, and very short esophagus with intrathoracic stomach, small intestine, spleen, and pancreas. The umbilical cord had 4 vessels. The second affected sib was liveborn at 36 weeks' gestation. She had identical facial features, anal atresia associated with rectovaginal fistula, hemivertebra, agenesis of the corpus callosum, and tetralogy of Fallot. She died at age 53 days. Necropsy limited to a muscle biopsy showed uniform muscle atrophy compatible with a neurogenic origin." +227260,"The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by {10:Slavotinek et al., 2013}).\n\nFFDD2 ({614973}) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.\n\nFor a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 ({136500})." +227270,"{1:Cantu et al. (1975)} reported 3 affected males in a sibship of 13, from second-cousin parents, who had what the authors termed lethal faciocardiomelic dysplasia. They were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe cardiac malformation which may have been responsible for death of all 3 in the first week or so of life." +227300,"Combined deficiency of factor V ({612309}) and factor VIII ({300841}) is characterized by bleeding symptoms similar to those in hemophilia ({306700}) or parahemophilia ({227400}), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by {17:Zhang and Ginsburg, 2004}).\n\n<Subhead> Genetic Heterogeneity of Combined Deficiency of Factor V and Factor VIII\n\nAnother form of combined deficiency of factor V and factor VII (F5F8D2; {613625}) is caused by mutation in the MCFD2 gene ({607788}) on chromosome 2." +227310,"{1:Rahim Adam et al. (1985)} reported a hemorrhagic diathesis due to combined deficiency of factors V and VIII in a Syrian brother and sister. Unlike reported cases, no abnormality of protein C ({612283}) or its inhibitor was found. Both parents and 1 of 3 clinically normal sibs had levels of factors V and VIII greater than 10% but less than 50% of normal." +227320,"{1:Wilf-Miron and Goodman (1987)} described a Moslem Arab male infant, with healthy first-cousin parents, who had a seemingly 'new' congenital malformation syndrome that mainly involved the face, thorax, and genitalia. Facial features were microphthalmia, anteverted nares, long, flat philtrum, thin upper lip, and micrognathia. Pectus excavatum and widely spaced nipples were the thoracic features. The genitalia showed a saddle-bag configuration of the scrotum with a prominent scrotal raphe and mild glanular hypospadias. The thumbs and great toes were somewhat wide, and the nails, particularly those of the toes, were hypoplastic. A prominent crease was found on the ventral surface of the foot. Some of the features suggested Aarskog syndrome ({305400}) and others suggested the Smith-Lemli-Opitz syndrome ({270400})." +227400,"Factor V deficiency is a rare autosomal recessive bleeding disorder with variable phenotypic expression (summary by {13:van Wijk et al., 2001})." +227500,"Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity (summary by {22:Millar et al., 2000}).\n\n{23:Perry (2002)} provided a comprehensive review of factor VII deficiency with a description of F7 polymorphisms, gene structure, and a summary of 120 mutations." +227600,"Factor X deficiency is a rare autosomal recessive bleeding disorder showing variable phenotypic severity. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. The disorder can be caused either by reduced levels of the factor X protein or by synthesis of a dysfunctional factor X protein (summary by {31:Millar et al., 2000})." +227645,"Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +227646,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +227650,"Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {29:Deakyne and Mazin, 2011}).\n\n{116:Soulier et al. (2005)} noted that the FANCA, -C, -E, -F, -G, and -L proteins are part of a nuclear multiprotein core complex which triggers activating monoubiquitination of the FANCD2 protein during S phase of the growth cycle and after exposure to DNA crosslinking agents. The FA/BRCA pathway is involved in the repair of DNA damage.\n\nSome cases of Fanconi anemia have presented with a VACTERL ({192350}) or VACTERL-H ({276950}, {314390}) phenotype. In a group of 27 patients with Fanconi anemia group D1 ({605724}) due to biallelic mutations in the BRCA2 gene ({600185}), {2:Alter et al. (2007)} found that 5 patients had 3 or more VATER association anomalies and 1 was diagnosed with VACTERL-H. A VATER phenotype has also been reported in Fanconi anemia of complementation groups A, C ({227645}), E ({600901}), F ({603467}), and G ({602956}); VACTERL-H has also been described in patients with FANCB ({300515}) mutations ({73:McCauley et al., 2011}). {98:Savage et al. (2015)} added patients with FANCI ({609053}) to this list and stated that patients with FANCD2 ({227646}) and FANCL ({614083}) had also been reported to have features of VACTERL association.\n\n<Subhead> Genetic Heterogeneity of Fanconi Anemia\n\nOther Fanconi anemia complementation groups include FANCB ({300514}), caused by mutation in the FANCB ({300515}) on chromosome Xp22; FANCC ({227645}), caused by mutation in the FANCC ({613899}) on chromosome 9q22; FANCD1 ({605724}), caused by mutation in the BRCA2 ({600185}) on chromosome 13q12; FANCD2 ({227646}), caused by mutation in the FANCD2 gene ({613984}) on chromosome 3p25; FANCE ({600901}), caused by mutation in the FANCE gene ({613976}) on chromosome 6p21; FANCF ({603467}), caused by mutation in the FANCF gene ({613897}) on chromosome 11p15; FANCG ({614082}), caused by mutation in the XRCC9 gene (FANCG; {602956}) on chromosome 9p13; FANCI ({609053}), caused by mutation in the FANCI gene ({611360}) on chromosome 15q26; FANCJ ({609054}), caused by mutation in the BRIP1 gene ({605882}) on chromosome 17q22; FANCL ({614083}), caused by mutation in the PHF9 gene (FANCL; {608111}) on chromosome 2p16; FANCN ({610832}), caused by mutation in the PALB2 gene ({610355}) on chromosome 16p12; FANCO ({613390}), caused by mutation in the RAD51C ({602774}) on chromosome 17q22; FANCP ({613951}), caused by mutation in the SLX4 gene ({613278}) on chromosome 16p13; FANCQ ({615272}), caused by mutation in the ERCC4 gene ({133520}) on chromosome 16p13; FANCR ({617244}), caused by mutation in the RAD51 gene ({179617}) on chromosome 15q15; FANCS ({617883}), caused by mutation in the BRCA1 gene ({113705}) on chromosome 17q21; FANCT ({616435}), caused by mutation in the UBE2T gene ({610538}) on chromosome 1q31; FANCU ({617247}), caused by mutation in the XRCC2 gene ({600375}) on chromosome 7q36; FANCV ({617243}), caused by mutation in the MAD2L2 gene ({604094}) on chromosome 1p36; and FANCW ({617784}), caused by mutation in the RFWD3 gene ({614151}) on chromosome 16q23.\n\nThe previously designated FANCH complementation group ({60:Joenje et al., 1997}) was found by {59:Joenje et al. (2000)} to be the same as FANCA.\n\nA patient originally reported to have Fanconi anemia of complementation group M (FANCM) due to mutation in the FAAP250 gene ({609644}) by {75:Meetei et al. (2005)} was subsequently found by {115:Singh et al. (2009)} to have FANCA." +227810,"Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose ({12:Manz et al., 1987}). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested ({2:Berry et al., 1995}; {8:Fellers et al., 1967}; {12:Manz et al., 1987}; {16:Odievre, 1966}).\n\nUse of the term glycogenosis type XI introduced by {10:Hug (1987)} is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport." +227850,"In 2 brothers, {1:Abels and Reed (1973)} described a disorder with both similarities to and differences from the Fanconi syndrome. One brother died in his mid-twenties after a prolonged course characterized by pancytopenia, recurrent infections, low IgA, chronic lung infections complicated by multiple bilateral pneumothoraces, osteomyelitis, and multiple cutaneous malignancies with lymph node metastases. The other brother had severe pancytopenia responsive to methyltestosterone therapy." +228000,"Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by {2:Alves et al., 2013})." +228020,"{2:Jablonska et al. (1989)} described 4 patients with stony-hard induration of the skin and deeper tissues, most pronounced on the buttocks, thighs, and legs, and with limitation of joint mobility and contractures of the lower limbs. Two of the patients were sibs and one was the product of a consanguineous marriage, suggesting autosomal recessive inheritance. The disorder was noted in early infancy and was not progressive. Except for functional impairment of the lungs caused by an underdeveloped thorax that resulted from pressure of the thickened thoracic fascia, there was no involvement of viscera or muscles and no immunologic abnormalities. The most important laboratory finding was markedly thickened fascia. {2:Jablonska et al. (1989)} suggested that this was the human model of the 'tight-skin' mouse (Tsk) as described by {1:Green et al. (1976)}. Except for apparent autosomal recessive inheritance, the condition appears to be the same as that labeled stiff skin syndrome ({184900})." +228200,"Neither familial occurrence nor associated exogenous factors have been identified. When cases of femoral defects associated with malformations of the arms are collected, a highly specific pattern of rare arm defects are found, such as amelia, peromelia at the lower end of the humerus, humeroradial synostosis, and defects of the ulna and ulnar rays ({3:Kuhne et al., 1967}). This disorder of the femurs has been called PFFD (proximal focal femoral deficiency) in this country ({1:Aitken, 1969}) and is probably heterogeneous. {4:Lenz (1977)} stated that he had collected more than 350 cases and found no familial occurrence or parental consanguinity. {5:Lenz et al. (1993)} analyzed 491 cases; only 1 family had 2 affected sibs. Another case of familial occurrence was reported by {7:Zlotogora et al. (1983)}. {6:Richieri-Costa and Opitz (1986)} reported FFU in 1 of monozygotic twins. {2:Capece et al. (1994)} diagnosed the FFU complex at 24 weeks of gestation by ultrasonography." +228300,"Male patients with hypogonadotropic hypogonadism due to isolated luteinizing hormone (LH) deficiency have normal sexual differentiation but fail to develop spontaneous puberty. Absence of LH alters Leydig cell proliferation and maturation and impairs the onset of normal spermatogenesis, which requires high levels of intratesticular testosterone. Infertility and very low levels of spermatogenesis generally persist in affected men despite long-term exposure to gonadotropin therapy. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea (summary by {4:Basciani et al., 2012}).\n\nCongenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {13:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a general phenotypic description and discussion of genetic heterogeneity of hypogonadotropic hypogonadism, see {147950}.\n\n<Subhead> Reviews\n\n{2:Arnhold et al. (2009)} noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to mutations in LHB are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor (see {238320}): all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG; {118860}) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility." +228355,"The clinical manifestations of mental retardation, spastic diplegia, and congenital deafness in various degrees are known as the neurologic type of endemic cretinism, which occurs in countries with high goiter endemicity. Maternal iodine deficiency has been established as a major cause. On the basis of studies of 70 families with endemic cretinism from Highland Ecuador, {1:Held et al. (1990)} suggested that an autosomal recessive predisposition is a major etiologic factor. A segregation analysis of 49 families yielded an estimate of P = 0.245. Half sibs were all unaffected and no significant birth order effect was observed among 101 probands. Because the neurologic type of endemic cretinism represents a defined subset of the iodine deficiency disorders, {1:Held et al. (1990)} suggested the designation fetal iodine deficiency disorder (FIDD) rather than cretinism.\n\nFIDD is the principal form of endemic cretinism, and the most common cause of preventable mental deficiency in the world. However, not everyone at risk develops FIDD and familial aggregation is common, suggesting that genetic factors may be involved. The apolipoprotein E (APOE; {107741}) gene encodes a lipoprotein that possesses a thyroid hormone-binding domain, and the APOE genotype might affect the efficiency with which thyroid hormone influences neuronal cell growth during the first and second trimesters of fetal development. In each of 3 iodine-deficient areas in central China, {2:Wang et al. (2000)} found that APOE4 genotypes were significantly enriched in FIDD probands, being 16% versus 6% in controls. They suggested that this may contribute to the low frequency of the APOE4 gene in Chinese compared with Caucasian populations." +228520,"Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by {9:Tompson et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Fibrochondrogenesis\n\nFibrochondrogenesis-2 (FBCG2; {614524}) is caused by mutation in the COL11A2 gene ({120290}) on chromosome 6p21.3." +228550,"Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life (summary by {2:Arcangeli and Calista, 2006}).\n\n<Subhead> Genetic Heterogeneity of Infantile Myofibromatosis\n\nSee also IMF2 ({615293}), caused by mutation in the NOTCH3 gene ({600276})." +228560,"{1:Goldblatt and Singer (1992)} described a brother and sister with gingival fibromatosis associated with craniofacial dysmorphism: relative macrocephaly, bushy eyebrows with synophrys, hypertelorism and downslanting palpebral fissures, flattened nasal bridge and hypoplastic nares, cupid-bow mouth, and highly arched palate. Autosomal recessive inheritance has been suggested for isolated gingival fibromatosis ({2:Jorgenson and Cocker, 1974}) and for a disorder with associated cherubism and other abnormalities ({266270})." +228600,"Hyaline fibromatosis syndrome is an autosomal recessive condition characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. The severity is variable. Some individuals present in infancy and have additional visceral or systemic involvement, which can lead to early death. These patients may show intractable diarrhea and increased susceptibility to infection. Other patients have later onset of a milder disorder affecting only the face and digits. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Histologic analysis of skin lesions shows proliferation of spindle-shaped cells forming strands in a homogeneous and hyaline eosinophilic extracellular material in the dermis (summary by {4:Denadai et al., 2012})." +228800,"{1:Comings et al. (1967)} reported 2 brothers, offspring of a first-cousin marriage, who had different combinations of retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel sclerosing thyroiditis, and pseudotumor of the orbit. One of the brothers had fibrotic contracture of the fingers. {2:Goldbach et al. (1983)} reported mediastinal and retroperitoneal fibrosis in 2 sisters with seronegative spondylarthropathy. Neither was HLA-B27-positive. {3:Phills et al. (1973)} reported retroperitoneal fibrosis in 3 sibs. {4:Zabetakis et al. (1979)} raised the possibility that retroperitoneal fibrosis is a manifestation of a collagen vascular disease." +228900,"Acromesomelic dysplasia-2B (AMD2B) is characterized by normal head and trunk, hypoplastic/dysplastic or absent fibulae, and severe hypoplastic/dysplastic hand/feet abnormalities. Mental development is normal (summary by {7:Szczaluba et al., 2005})." +228940,"{2:Saito et al. (1989)} described 2 sibs, a male and female born of a nonconsanguineous, relatively young couple, with a lethal acrorenal developmental complex. Both died of respiratory failure in the neonatal period. Radiologic features were symmetric mesomelic shortness of the limbs, fibular agenesis, oligosyndactyly, micrognathia, and hypoplastic ulna. The ears were abnormally formed, and the kidneys were cystic or hypoplastic. Some of the features, such as malformed ears and respiratory failure, are consistent with Potter sequence; however, the disorder appeared to be different from previously described forms of fibular aplasia/hypoplasia ({1:Lewin and Opitz, 1986}). Autopsy in the brother showed truncus arteriosus and ventricular septal defect. In the second pregnancy, that of the male, ultrasound detected 2 gestational sacs early in the pregnancy; one contained a fetus and the other regressed and disappeared by 15 weeks' gestation." +228990,"The disorder described by {1:Kandori (1959)} was characterized by irregular flecks, with great variability in size, distributed in the equatorial region or between the equatorial and macular regions with a tendency to confluence. The macula was spared. The pigment epithelium was disturbed, with some night blindness." +229045,"Focal epithelial hyperplasia is a benign hyperplasia of the oral mucosa induced by human papillomavirus (HPV) ({4:Premoli-De-Percoco et al., 1993})." +229050,"Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system (summary by {8:Qiu et al., 2006})." +229070,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {13:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}." +229100,"Glutamate formiminotransferase deficiency is an autosomal recessive disorder and the second most common inborn error of folate metabolism. Features of a severe phenotype include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematologic abnormalities (summary by {9:Hilton et al., 2003})." +229200,"Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints ({3:Al-Hussain et al., 2004}). It is classified as a form of Ehlers-Danlos syndrome ({15:Malfait et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Brittle Cornea Syndrome\n\nBrittle cornea syndrome-2 (BCS2; {614170}) is caused by mutation in the PRDM5 gene ({614161}) on chromosome 4q27." +229230,"In an infant brother and sister born of unrelated parents, {1:Mena et al. (1991)} observed a similar and possibly unique set of congenital malformations. These included fused eyelids, craniofacial anomalies, ovarian cyst (in the female), subglottic stenosis, and specific digital abnormalities. Both infants had extension of metacarpophalangeal joints with flexion of the proximal interphalangeal joint of both index fingers with resulting overlap of the second digit over the third. Similar changes were noted in both second toes. {1:Mena et al. (1991)} concluded that the findings, although similar to those in the Fraser syndrome ({219000}), were sufficiently different to justify recognition as a distinct entity." +229250,"{1:McWhirter (1969)} stated that only a minority of Europeans have specific anosmia for Freesia, although most Europeans report that Freesia is one of the strongest scents known to them. {1:McWhirter (1969)} concluded that inability to perceive the scent is a recessive character. Tests of approximately 1,600 subjects showed that the frequency of the recessive phenotype was high in those of Eastern European and British Celtic descent (at about 10%) and low in those predominantly of Scandinavian, English, Dutch, and German descent (at about 4%)." +229300,"Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty. It is one of the most common forms of autosomal recessive ataxia, occurring in about 1 in 50,000 individuals. Other variable features include visual defects, scoliosis, pes cavus, and cardiomyopathy (review by {45:Delatycki et al., 2000}).\n\n{111:Pandolfo (2008)} provided an overview of Friedreich ataxia, including pathogenesis, mutation mechanisms, and genotype/phenotype correlation.\n\n<Subhead> Genetic Heterogeneity of Friedreich Ataxia\n\nAnother locus for Friedreich ataxia has been mapped to chromosome 9p (FRDA2; {601992})." +229310,"In an inbred family in Spain, {1:Combarros et al. (1988)} described 2 brothers and a sister with congenital glaucoma and a form of ataxia considered indistinguishable from Friedreich ataxia ({229300}). Although 1 of the 3 sibs had no frank ataxia, he showed generalized areflexia and pes cavus at age 15. Four other members of the family, a first cousin, a maternal aunt, and a paternal aunt and uncle, were identically affected by history. The authors discussed the alternative possibilities of 2 closely linked mutations or pleiotropism." +229400,"The features of frontofacionasal dysplasia include blepharophimosis, lower lid lagophthalmos, primary telecanthus, S-shaped palpebral fissues, facial hypoplasia, eyelid coloboma, widow's peak, cranium bifidum occultum, frontal lipoma, nasal hypoplasia, deformed nostrils, bifid nose, and cleft of lip, premaxilla, palate, and uvula ({6:White et al., 1991}). Also see frontonasal dysplasia ({136760})." +229500,"{1:Dormandy and Porter (1961)} reported the above combination in 2 sisters. Unlike patients with fructose intolerance, both were fond of candy and showed no nausea or vomiting after fructose ingestion. Both galactose and fructose induced severe hypoglycemia. Galactose-1-phosphate uridyl transferase, the enzyme deficient in galactosemia, was normal. In both patients serum insulin by immunoassay was in the same high range as is found in patients with beta islet cell adenomas ({2:Samols and Dormandy, 1963}). {3:Turner et al. (1972)} gave a full follow-up. The proband presented originally with a long history of 'epilepsy,' treated with anticonvulsants and punctuated by episodes of confusion attributed to overdosage of anticonvulsants. By 1972, hyperinsulinism had disappeared and fructose and galactose intolerance could no longer be demonstrated. The other sib had died." +229600,"Hereditary fructose intolerance (HFI) becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits. {2:Ali et al. (1998)} provided a detailed review of the biochemical, genetic, and molecular basis of aldolase B deficiency in hereditary fructose intolerance." +229650,"Although galactose and mannose will replace glucose as the major carbon and energy source in Eagle's minimal essential medium for culture of human cells, cells degenerate the same as in glucose-free medium when fructose is substituted for glucose. Although the nature of the mutation was not understood, {1:Cox and Masson (1974)} could select for human cell lines capable of utilizing fructose. X-irradiation increased the frequency of the fructose-plus phenotype." +229700,"Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis. Although the disorder may be lethal in the newborn period, proper treatment yields an excellent prognosis ({8:Kikawa et al., 1997}; {10:Matsuura et al., 2002})." +229800,"Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine (summary by {2:Bonthron et al., 1994})." +229850,"Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period ({1:Alessandri et al., 2005}). {15:Fryns (1987)} reviewed the syndrome.\n\nAlso see Tonne-Kalscheuer syndrome ({300978}), an X-linked disorder with overlapping features." +230000,"Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex.\n\nFucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival ({17:Kousseff et al., 1976})." +230200,"Galactosemia II (GALAC2), or galactokinase deficiency, is an autosomal recessive disorder that causes cataract formation in children not maintained on a lactose-free diet. Cataract formation is the result of osmotic phenomena caused by the accumulation of galactitol in the lens ({1:Asada et al., 1999}).\n\nFor a discussion of genetic heterogeneity of galactosemia, see GALAC1 ({230400})." +230300,"{1:Wider et al. (1969)} described 3 sisters with nonpuerperal galactorrhea occurring after treatment with oral contraceptive. Although all 3 had oligoovulation, the evidence suggested independent control of ovulation and lactation: galactorrhea continued in one sister while she took an oral contraceptive containing estrogen-progesterone, which presumably suppressed production of plasma gonadotropin. Galactorrhea continued even when ovulation was induced by measures which stimulated the release of gonadotropins. Two of the sisters conceived after ovulations which occurred despite continuing galactorrhea." +230350,"Galactosemia III (GALAC3), or epimerase-deficiency galactosemia, was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells ({9:Gitzelmann, 1972}). Fibroblasts, liver, phytohemagglutinin-stimulated leukocytes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts ({11:Holton et al., 1981}). This form was designated 'generalized' epimerase deficiency. {19:Openo et al. (2006)} demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.\n\nFor a discussion of genetic heterogeneity of galactosemia, see GALAC1 ({230400})." +230400,"Galactosemia I (GALAC1), or classic galactosemia, is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by {9:Bosch, 2006}).\n\n<Subhead> Genetic Heterogeneity of Galactosemia\n\nAlso see galactosemia II (GALAC2; {230200}), caused by mutation in the GALK1 gene ({604313}), which encodes the first enzyme in the Leloir pathway, and galactosemia III (GALAC3; {230350}), caused by mutation in the GALE gene ({606953}), which encodes the third enzyme in the Leloir pathway." +230450,"Gamma-glutamylcysteine synthetase deficiency is 1 of 4 diseases involving enzymes in the gamma-glutamyl cycle ({7:Meister, 1974}). The other 3 disorders are glutathione synthetase deficiency ({231900}), 5-oxoprolinuria, which is a severe or generalized form of glutathione synthetase deficiency ({266130}), and gamma-glutamyl transpeptidase deficiency ({231950}). All except gamma-glutamyl transpeptidase deficiency are accompanied by hemolytic anemia ({6:Larsson and Anderson, 2001})." +230500,"GM1-gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (GM1G2; {230600}), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (GM1G3; {230650}), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity ({37:Suzuki et al., 2001}).\n\nSee also Morquio B disease ({253010}), an allelic disorder with skeletal anomalies and no neurologic involvement.\n\nThe GM2-gangliosidoses include Tay-Sachs disease ({272800}) and Sandhoff disease ({268800})." +230600,"GM1-gangliosidosis type II (GM1G2) is an autosomal recessive lysosomal storage disease characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. Unlike the severe infantile type I, type II is usually not associated with macular cherry-red spots or organomegaly. Within type II, those with somewhat earlier onset and earlier death are considered to have the 'late-infantile' form, whereas those with slightly later onset and survival into late childhood are referred to as having the 'juvenile' form ({1:Caciotti et al., 2003}). However, there is no strict age marker to distinguish between these 2 type II forms. GLB1 enzyme activity in type II ranges from approximately 1 to 4% of control values ({6:Nishimoto et al., 1991}; {14:Yoshida et al., 1991})." +230650,"GM1-gangliosidosis type III (GM1G3) is an autosomal recessive lysosomal storage disorder characterized by neurodegeneration and mild skeletal changes. Age at onset ranges from 3 to 30 years. The disorder is less severe than GM1-gangliosidosis types I and II ({230600}). Type III shows extreme clinical variability, with some patients having only focal neurologic signs, such as dystonia, and others having more severe involvement with extrapyramidal signs and mental retardation. GLB1 enzymatic activity usually ranges from approximately 4 to 10% of control values ({18:Suzuki et al., 2001})." +230740,"GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy ({15:Tipton and Gorlin, 1984}). {7:Ilker et al. (1999)} and {3:Bayram et al. (2014)} noted that optic atrophy is not a consistent feature of the disorder." +230750,"Gastroschisis is a congenital defect of the abdominal wall that occurs laterally to, and often to the right of, a normally closed umbilical ring. Visceral organs that herniate through the defect are not covered by a membrane. Gastroschisis is distinct from omphalocele ({164750}), which is characterized by herniation of abdominal contents through the base of the umbilical cord; in omphalocele, the visceral organs are covered by membranes (summary by {9:Mastroiacovo et al., 2007}).\n\nBoth omphalocele and gastroschisis, when they occur without other malformations, are probably multifactorial ({1:Baird and MacDonald, 1981})." +230800,"Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues ({44:Jmoudiak and Futerman, 2005}).\n\nGaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (GD2; {230900}), and subacute neuronopathic type III (GD3; {231000}). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations ({47:Knudson and Kaplan, 1962}; {44:Jmoudiak and Futerman, 2005}).\n\nAll 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes that may be distinguished: perinatal lethal Gaucher disease ({608013}), which is a severe form of type II, and Gaucher disease type IIIC ({231005}), which also has cardiovascular calcifications.\n\nSee also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP; {176801}), which is an activator of beta-glucosidase." +230900,"Type II Gaucher disease (GD2) is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement ({14:Stone et al., 2000})." +231000,"Gaucher disease type III (GD3) is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II.\n\n{22:Patterson et al. (1993)} suggested that there are 2 phenotypic subgroups of Gaucher disease type III: type IIIA, which is characterized by myoclonus and dementia, and type IIIB, characterized by early onset of isolated horizontal supranuclear gaze palsy and aggressive systemic disease. See also Gaucher disease type IIIC ({231005}), which is associated with cardiovascular calcifications." +231005,"Gaucher disease type IIIc (GD3C) is a rare variant of subacute neuronopathic Gaucher disease type III ({231000}), but is considered distinct because of its association with cardiovascular calcifications ({3:Bohlega et al., 2000})." +231050,"Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues (summary by {4:Le Goff et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Geleophysic Dysplasia\n\nGeleophysic dysplasia-2 (GPHYSD2; {614185}) is an autosomal dominant form of the disorder caused by heterozygous mutation in the FBN1 gene ({134797}) on chromosome 15q21.1. Acromicric dysplasia ({102370}) and the autosomal dominant form of Weill-Marchesani syndrome ({608328}) are allelic to geleophysic dysplasia-2 and share overlapping skeletal and joint features.\n\nGeleophysic dysplasia-3 (GPHYSD3; {617809}) is caused by heterozygous mutation in the LTBP3 gene ({602090}) on chromosome 11q13." +231070,"Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged (summary by {15:Rajab et al., 2008})." +231080,"{2:Lewin and Hughes (1987)} presented the cases of a male-female sib pair with 'arthrogryposis,' hypotonia-hypokinesia sequence, and lymphedema. The parents were Ashkenazi Jewish. The authors suggested that the condition in these sibs was the same as that described by {1:German et al. (1975)}. The boy died at age 2 years of cor pulmonale; the girl was stillborn. This was the first instance of affected sibs. Three of the 4 known families with affected children have been Ashkenazi Jews." +231090,"A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by {6:Fallahian et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Recurrent Hydatidiform Mole\n\nAnother form of recurrent complete hydatidiform mole (HYDM2; {614293}) is caused by mutation in the KHDC3L gene ({611687}) on chromosome 6q13. HYDM3 ({618431}) is caused by mutation in the MEI1 gene ({608797}) on chromosome 22q13. HYDM4 ({618432}) is caused by mutation in the C11ORF80 gene ({616109}) on chromosome 11q13." +231095,"Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia (summary by {1:Genevieve et al., 2008})." +231100,"Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas ({4:Driscoll et al., 1988}).\n\n{18:Whitington (2007)} postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., {235200}). {18:Whitington (2007)} proposed the term 'congenital alloimmune hepatitis.'\n\nIn the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others ({5:Fawaz et al., 1975}; {10:Knisely et al., 1987}; {8:Kelly et al., 2001})." +231200,"Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; {613160}) receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5 ({173511}).\n\n<Subhead> Genetic Heterogeneity of Platelet-Type Bleeding Disorders\n\nInherited platelet disorders are a heterogeneous group of bleeding disorders affecting platelet number, function, or both. Functional defects can involve platelet receptors, signaling pathways, cytoskeletal proteins, granule contents, activation, or aggregation (review by {3:Cox et al., 2011} and {19:Nurden and Nurden, 2011}).\n\nPlatelet-type bleeding disorders include Bernard-Soulier syndrome (BDPLT1); Glanzmann thrombasthenia (BDPLT2; {273800}), caused by mutation in the ITGA2B ({607759}) or ITGB3 ({173470}) gene; pseudo-von Willebrand disease (BDPLT3; {177820}), caused by mutation in the GP1BA gene ({606672}); gray platelet syndrome (BDPLT4; {139090}), caused by mutation in the NBEAL2 gene ({614169}); Quebec platelet disorder (BDPLT5; {601709}), caused by tandem duplication of the PLAU gene ({191840}); May-Hegglin anomaly (BDPLT6; {155100}), caused by mutation in the MYH9 gene ({160775}); Scott syndrome (BDPLT7; {262890}), caused by mutation in the TMEM16F gene ({608663}); BDPLT8 ({609821}), caused by mutation in the P2RY12 gene ({600515}); BDPLT9 ({614200}), associated with deficiency of the glycoprotein Ia/IIa receptor (see ITGA2; {192974}); glycoprotein IV deficiency (BDPLT10; {608404}), caused by mutation in the CD36 gene ({173510}); BDPLT11 ({614201}), caused by mutation in the GP6 gene ({605546}); BDPLT12 ({605735}), associated with a deficiency of platelet COX1 ({176805}); susceptibility to BDPLT13 ({614009}), caused by mutation in the TBXA2R gene ({188070}); BDPLT14 ({614158}), associated with deficiency of thromboxane synthetase (TBXAS1; {274180}); BDPLT15 ({615193}), caused by mutation in the ACTN1 gene ({102575}); BDPLT16 ({187800}), caused by mutation in the ITGA2B ({607759}) or ITGB3 ({173470}) gene; BDPLT17 ({187900}), caused by mutation in the GFI1B gene ({604383}); BDPLT18 ({615888}), caused by mutation in the RASGRP2 gene ({605577}); BDPLT19 ({616176}), caused by mutation in the PRKACG gene ({176893}); BDPLT20 ({616913}), caused by mutation in the SLFN14 gene ({614958}); BDPLT21 ({617443}), caused by mutation in the FLI1 gene ({193067}); and BDPLT22 ({618462}), caused by mutation in the EPHB2 gene ({600997}).\n\nSee reviews by {21:Rao (2003)}, {3:Cox et al. (2011)}, and {19:Nurden and Nurden (2011)}.\n\nFor a discussion of the genetic heterogeneity of hereditary thrombocytopenia, see THC1 ({313900})." +231300,"Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an incidence ranging from 1 in 30,000 to 1 in 1,250. Signs of the disease include early onset (birth to 3 years of age), increased intraocular pressure, increased corneal diameter, enlarged globe, Haab striae (breaks in Descemet membrane), corneal edema, and optic nerve head cupping. Congenital glaucoma is a chronic disease and a serious cause of blindness worldwide (summary by {1:Azmanov et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Primary Congenital Glaucoma\n\nPrimary congenital glaucoma-3B (GLC3B; {600975}) maps to chromosome 1p36.2-p36.1. GLC3C ({613085}) maps to chromosome 14q24.3. GLC3D ({613086}) is caused by mutation in the LTBP2 gene ({602091}) located on chromosome 14q24 but outside the locus for GLC3C. GLC3E ({617272}) is caused by mutation in the TEK gene ({600221}) on chromosome 9p21." +231630,"{4:Reif-Lehrer (1976)} reported that 25% of persons develop the 'Chinese restaurant syndrome' on exposure to monosodium glutamate (MSG) used as a flavor enhancer. Its heavy use in soy sauce is the reason for association of its effects with Chinese restaurants. He suggested that sensitive individuals may have an inborn error of metabolism. Symptoms of the Chinese restaurant syndrome include tightness in the back of the neck, pressure behind the eyes, frontal or temporal headache, facial flushing, nausea, etc. Family and twin studies are needed. 'Hot dog' headache ({2:Henderson and Raskin, 1972}) and diet-induced migraine ({6:Youdim et al., 1971}; {5:Sandler et al., 1974}) may be similar examples." +231670,"Glutaric acidemia I is an autosomal recessive metabolic disorder characterized by gliosis and neuronal loss in the basal ganglia and a progressive movement disorder that usually begins during the first year of life ({11:Goodman et al., 1995}).\n\n{15:Hedlund et al. (2006)} provided a detailed review of the clinical and biochemical aspects of glutaric acidemia type I." +231680,"Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1; {231670}) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case ({15:Goodman, 1993}; {33:Olsen et al., 2003}).\n\nThe heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by {12:Frerman and Goodman, 2001}).\n\nImportantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form ({27:Liang et al., 2009})." +231690,"Glutaric aciduria III is characterized by an isolated accumulation of glutaric acid. It appears to be a 'non-disease' as it is found in healthy individuals and is associated with inconsistent symptoms in others (summary by {3:Marlaire et al., 2014})." +231900,"Two forms of glutathione synthetase deficiency have been described; a mild form, referred to as glutathione synthetase deficiency of erythrocytes, causing hemolytic anemia, and a more severe form causing 5-oxoprolinuria with secondary neurologic involvement ({266130})." +232200,"Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by {33:Lei et al., 1993})." +232300,"Glycogen storage disease II (GSD2), an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture {59:Matsuishi et al. (1984)}." +232400,"Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) ({34:Shen et al., 1996}). These subtypes have been explained by differences in tissue expression of the deficient enzyme ({13:Endo et al., 2006}). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. ({39:Van Hoof and Hers, 1967}; {11:Ding et al., 1990}).\n\nClinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy ({34:Shen et al., 1996}).\n\n{21:Lucchiari et al. (2007)} provided a review of GSD III." +232500,"Glycogen storage disease IV (GSD4) is a clinically heterogeneous disorder. The typical 'classic' hepatic presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular presentation of GSD IV is distinguished by age at onset into 4 groups: perinatal, presenting as fetal akinesia deformation sequence (FADS) and perinatal death; congenital, with hypotonia, neuronal involvement, and death in early infancy; childhood, with myopathy or cardiomyopathy; and adult, with isolated myopathy or adult polyglucosan body disease ({9:Bruno et al., 2004}). The enzyme deficiency results in tissue accumulation of abnormal glycogen with fewer branching points and longer outer branches, resembling an amylopectin-like structure, also known as polyglucosan ({30:Tay et al., 2004}).\n\n{8:Bruno et al. (2007)} provided a review of the neuromuscular forms of glycogen branching enzyme deficiency." +232600,"McArdle disease is an autosomal recessive metabolic disorder characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria (summary by {6:Chen, 2001})." +232800,"Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. {22:Raben and Sherman (1995)} noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder." +232900,{2:Zugibe et al. (1969)} described a 52-year-old man with gout and marked splenomegaly. Reticuloendothelial cells in the spleen and bone marrow contained large eosinophilic granules when stained with hematoxylin and eosin. Urinary hexosamine levels were elevated in the proband and some close relatives. {1:Gilbert (1978)} has seen no further cases and knows of none reported. +233100,"Patients with familial renal glucosuria have decreased renal tubular resorption of glucose form the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. Glucosuria in these patients can range from less than 1 to over 150 g/1.73 m(2) per day ({13:Santer and Calado, 2010})." +233300,"Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea ({16:Timmreck and Reindollar, 2003}).\n\n<Subhead> Genetic Heterogeneity of Ovarian Dysgenesis\n\nEven in its isolated form, 46,XX ovarian dysgenesis is etiologically heterogeneous. See ODG2 ({300510}), caused by mutation in the BMP15 gene ({300247}); ODG3 ({614324}), caused by mutation in the PSMC3IP gene ({608665}); ODG4 ({616185}), caused by mutation in the MCMDC1 gene ({610098}); ODG5 ({617690}), caused by mutation in the SOHLH1 gene ({610224}); ODG6 ({618078}), caused by mutation in the NUP107 gene ({607617}); ODG7 ({618117}), caused by mutation in the MRPS22 gene ({605810}); ODG8 ({618187}), caused by mutation in the ESR2 gene ({601663}); ODG9 ({619665}), caused by mutation in the SPIDR gene ({615384}); and ODG10 ({619834}), caused by mutation in the ZSWIM7 gene ({614535}).\n\nSee also ovarian dysgenesis with sensorineural deafness, or Perrault syndrome ({233400})." +233400,"Perrault syndrome is a sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement (summary by {16:Pierce et al., 2010}). {16:Pierce et al. (2010)} noted that clinical heterogeneity of Perrault syndrome has prompted classification into type I, which is static and without neurologic disease, and type II, which is with progressive neurologic disease.\n\n<Subhead> Genetic Heterogeneity of Perrault Syndrome\n\nSee also PRLTS2 ({614926}), caused by mutation in the HARS2 gene ({600783}) on chromosome 5q31; PRLTS3 ({614129}), caused by mutation in the CLPP gene ({601119}) on chromosome 19p13; PRLTS4 ({615300}), caused by mutation in the LARS2 gene ({604544}) on chromosome 3p21; PRLTS5 ({616138}), caused by mutation in the TWNK gene ({606075}) on chromosome 10q24; and PRLTS6, caused by mutation in the ERAL1 gene ({607435}) on chromosome 17q11.\n\nSee COXPD54 ({619737}), which can manifest as Perrault syndrome." +233430,"{1:Brosnan et al. (1980)} described 2 sisters, aged 1.5 and 8.5 years, with peculiar facies; cardiac, renal, musculoskeletal, and ectodermal anomalies; short stature; streak gonads and mild developmental delay. Both patients were of 46,XY karyotype. Abnormalities included cleft lip and palate, preauricular pits, acromelia with broad hands and feet, and a hypermuscular appearance. Ectodermal defects included 'punched out scalp defects' and unusual position of hair whorls. The nose had a 'squashed down' appearance because of a short columella and small nares." +233600,"Immunodeficiency-59 is an autosomal recessive primary immunologic disorder characterized by combined immunodeficiency and recurrent septic infections of the respiratory tract, skin, and mucous membranes, as well as disturbed glucose metabolism. Granulocytopenia and B-cell and dentritic cell deficiency are present ({1:Haapaniemi et al., 2017})." +233690,Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.' +233800,"Congenital grouped pigmentation of the retina is a rare disorder characterized by a grouping together of round to oval spots of pigment in one or more quadrants of the retina, except for the macula (summary by {6:Renardel de Lavalette et al., 1991})." +233805,"In 3 brothers born of healthy nonconsanguineous parents, {1:Hoepffner et al. (1989)} demonstrated a similar clinical phenotype with reduced subcutaneous fat on the limbs, lipodystrophy in the face and trunk, and reduced relative body weight. The neurocranium was relatively broad. The face was birdlike, with a beaked nose, moderate micrognathia, and a very narrow mouth. Other signs were contractures of joints, slight pectus excavatum, flat feet, and scleroderma-like changes in the skin, which was taut, thin, and atrophic, with moderate hyperkeratosis of the plantae surfaces and yellowish spotted discolorations with pigmented areas on the limbs and trunk. The eldest brother, born in 1965, showed insulin-resistant diabetes mellitus, amenable to diet, and type IV hyperlipoproteinemia ({144600}). The parents and the 2 younger brothers showed no disturbance in carbohydrate or fat metabolism. The microscopic changes in the skin were described by {2:Mensing et al. (1982)}, who referred to the condition as a Werner-syndrome-like disorder. Biochemically, {1:Hoepffner et al. (1989)} demonstrated a combined defect in the action of 3 related peptides, insulin ({176730}), insulin-like growth factor I ({147440}) and epidermal growth factor ({131530}). Cultured fibroblasts showed a markedly reduced stimulation of RNA synthesis by the 3 growth factors and a decreased insulin stimulation of 2-deoxy-D-glucose uptake as compared with normal controls. Receptor binding of the 3 peptides occurred with normal capacity and affinity. {1:Hoepffner et al. (1989)} interpreted the findings as indicating that signal transfer of the different growth factors has a common denominator at the postreceptor level and that this is the site of the mutation. The defect may be located distal to the receptor-associated tyrosine kinases." +233810,"In 2 sisters and a boy born of consanguineous parents, {1:Grubben et al. (1992)} demonstrated an apparently new syndrome of pre- and postnatal growth deficiency, hypotonia, psychomotor retardation with notably impaired speech development, small and puffy hands and feet, small and widely spaced teeth, eczematous skin, and, in one of the sisters and the boy, partial agenesis of the corpus callosum." +234030,"{1:Calderon and Gonzalez-Cantu (1979)} described a family in which 3 sisters, with normal first-cousin parents, had stubby, coarse, sparse and fragile hair, eyebrows and eyelashes; photosensitivity; and nonprogressive mental retardation without demonstrable metabolic aberration." +234050,"Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by {6:Faghri et al., 2008}).\n\nSabinas brittle hair syndrome ({211390}) is another form of nonphotosensitive TTD.\n\nFor a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}." +234100,"Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature ({15:Hallermann, 1948}; {26:Streiff, 1950}; {10:Francois, 1958}). Mental retardation is present in a minority of cases ({13:Gorlin et al., 1990})." +234200,"Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by {9:Gregory et al., 2009}).\n\nPanthothenate kinase-associated neurodegeneration has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI ({12:Hayflick et al., 2003}; {21:Pellecchia et al., 2005}).\n\n{14:Kumar et al. (2006)} noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.\n\n{9:Gregory et al. (2009)} provided a detailed review of the different forms of neurodegeneration with brain iron accumulation.\n\nIn addition, some patients with Kufor-Rakeb syndrome ({606693}), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia.\n\n<Subhead> Genetic Heterogeneity of Neurodegeneration with Brain Iron Accumulation\n\nNeurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders. See also NBIA2A ({256600}) and NBIA2B ({610217}), both caused by mutation in the PLA2G6 gene ({603604}); NBIA3 ({606159}), caused by mutation in the FTL gene ({134790}); NBIA4 ({614298}), caused by mutation in the C19ORF12 gene ({614297}); NBIA5 ({300894}), caused by mutation in the WDR45 gene ({300526}); NBIA6 ({615643}), caused by mutation in the COASY gene ({609855}); NBIA7 ({617916}), caused by mutation in the REPS1 gene ({614825}); and NBIA8 ({617917}), caused by mutation in the CRAT gene ({600184}).\n\nSee review of {24:Schneider and Bhatia (2012)} on syndromes of neurodegeneration with brain iron accumulation, including Kufor-Rakeb disease ({606693}) and aceruloplasminemia ({604290})." +234300,"{1:Chisa (1965)} reported affected brother and sister, and {3:Kopf et al. (1965)} described affected sisters.\n\n{2:Herd and Hunter (1998)} quoted an incidence of halo nevi of 1%. They reported a family that had lived in New Zealand in which a typical halo nevus was noted below the left breast of the mother. One daughter, aged 9 years, had 2 halo nevi, and 2 older daughters had 1 or 2 halo nevi. All 4 individuals had had much sun exposure." +234350,"{3:Bunker (1976)} had information on 3 pairs of related women who developed hepatitis after halothane anesthesia. Three of them died. All were Mexican American and all were obese. The 3 pairs were, respectively, mother-daughter, sisters, and cousins. Glutathione combines with the reactive metabolites and reduces their toxicity. Thus, a genetic defect in glutathione generation might be sought in these patients. Conceivably a genetic peculiarity of phosphatase important to the breakdown of phosphatidyl ethanolamine is involved. Individual differences in the biotransformation of halothane are known ({4,5:Cascorbi et al., 1970, 1971}). The clinical features include greater incidence in women (INH and methyldopa liver damage also show this) and in obesity, higher mortality than in viral hepatitis, occurrence after multiple exposure to the agent, development of signs and symptoms more than 10 days after first exposure and 2 to 3 days after the second exposure, fever and eosinophilia with jaundice. The histopathologic changes in the liver always look worse than the patient's clinical state would predict. Many histopathologic and clinical features suggest cell-mediated immunity as the ultimate mechanism of liver damage ({11:Uzunalimoglu et al., 1970}). Peculiarities of the cases observed by Bunker and his colleagues ({8:Hoft et al., 1981}) included lack of eosinophilia during the episodes of hepatitis. No excessive exposure to alcohol or to other hepatotoxins was identified. Only 1 of the 6 had been previously exposed to halothane. Four of the 6 were taking oral contraceptives, a fifth had discontinued the 'pill' 8 months previously, and the sixth was receiving postmenopausal estrogen treatment. {3:Bunker (1976)} had information on another Mexican American family in which mother and daughter had fatal posthalothane hepatitis; the daughter was 7 years old.\n\n{7:Farrell et al. (1985)} concluded that 'predisposition to halothane hepatitis is determined in part by cellular susceptibility.' They devised an indirect in vitro test that detects cell damage from electrophilic drug intermediates. Metabolites of phenytoin were generated by incubation of phenytoin with rat hepatic microsomes in the presence of an epoxide hydrolase inhibitor, which prevents the further metabolism of phenytoin to an inert metabolite. In lymphocytes exposed in this system, cytotoxicity was gauged by trypan blue exclusion. Lymphocytes from 11 patients with halothane hepatitis showed an increase in cytotoxicity that was 8 times greater than the increase in normal controls, patients with other forms of liver disease and persons exposed to halothane without adverse effects. In the 3 patients studied, the lymphocyte abnormality was still present 13 months after first testing. Family studies showed abnormal test results in 6 of 15 first-degree relatives of 4 probands. More than 1 generation was affected in 3 families. It was always the mother who was affected (thus, there was no male-to-male transmission) and the spouse of the mother was not studied in the 2 pedigrees diagrammed; hence, autosomal recessive inheritance is not conclusively excluded. {2:Brown (1985)} reviewed the other factors that have been identified and suggested a multifactorial basis." +234500,"Hartnup disorder (HND) is characterized by transient manifestations of pellagra, cerebellar ataxia, and psychosis. It is caused by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa (summary by {5:Kleta et al., 2004})." +234580,"Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, {214100}), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, and nail abnormalities ({4:Ratbi et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Heimler Syndrome\n\nAnother form of Heimler syndrome (HMLR2; {616617}) is caused by mutation in the PEX6 gene ({601498}) on chromosome 6p21." +234700,"A rather large number of families with multiple affected sibs and normal parents have been reported. {13:Latta and Crittenden (1964)} studied the hearts of 2 sibs (the seventh and eighth offspring) who died neonatally of congenital heart block. In neither was an atrioventricular node found, nor were myocardial fibers present in the lower part of the interatrial septum. Both hearts showed foci of calcification, fibrosis, increased vascularization and a few small accumulations of inflammatory cells. Thus, fetal infection (or autoimmune reaction, as discussed later) could have been responsible. In the same family, {7:Crittenden et al. (1964)} described 4 of 8 sibs with congenital heart block. A fifth may have been affected. One died at age 14 and the others died in the neonatal period. The parents were normal and of Czechoslovakian ancestry. No mention of consanguinity was made. {3:Cannom and Hancock (1974)} described a distinctive syndrome of cardiomyopathy, probably congenital, with mitral regurgitation, complete heart block, and atrial arrhythmia in 4 unrelated male patients. The disorder is relatively benign. No familial occurrence was observed. Congenital cardiomyopathy may be the basis for other instances of congenital complete heart block which might appear in an otherwise normal heart. This appears particularly likely in cases of associated atrial arrhythmia and atrioventricular block.\n\n{16:McCue et al. (1977)} pointed out an important nongenetic cause of congenital heart block, which, furthermore, can show familial aggregation. Of 22 affected children, 14 were born to 11 mothers with clinical or laboratory evidence of connective tissue disease, mainly systemic lupus erythematosus (SLE; {152700}). In adults with SLE, changes in connective tissue around the conduction system can lead to heart block. Placental transmission of antinuclear antibodies of the IgG class is documented. Newborns have been reported with transient skin lesions of lupus. {4:Chameides et al. (1977)} also observed familial congenital heart block on this basis. {10:James et al. (1975)} observed affected brother and sister and made anatomic observations on the latter. This is probably an example of simulation of mendelism by the effects of maternal autoimmunity. {19:Parke and Rothfield (1985)} pointed out that complete heart block appears to be due to transplacental passage of maternal IgG antibody to the RNP antigen Ro. They reported the presence of anti-Ro antibody in the serum of a woman with SLE who had 2 infants with congenital heart block. The improved understanding of the pathogenesis of congenital heart block makes understandable the histopathologic findings of {13:Latta and Crittenden (1964)}, noted earlier, and also raises doubts about the existence of a mendelian form of congenital heart block. {20:Reichlin et al. (1988)} described a family in which an asymptomatic woman gave birth to a son who had complete congenital heart block and who, although clinically well at age 33, developed precipitating antibodies to the Ro/SSA antigen. In the mother, features of both SLE and Sjogren syndrome ({270150}) developed 26 years after the birth of her son. {8:Deutscher et al. (1988)} presented a molecular analysis of human Ro ribonucleoprotein by recombinant methods.\n\n{2:Behan et al. (1989)} studied 10 patients with congenital heart block due to maternal autoantibodies, together with the mother and sibs in each case. The seropositive mother of 1 affected child had a similar conduction block (bifascicular block) to that in her affected child. None of the sibs had cardiac lesions. Six mothers had Ro or La antibody 5 to 17 years after the birth of the affected child. Four mothers examined 11 to 32 years after the birth of an affected child were seronegative. Three of the mothers had evidence of a connective tissue disorder. It is surprising that heart block develops in some pregnancies of these women. {2:Behan et al. (1989)} suggested that the sequence of events is as follows: before or during an early stage of pregnancy, the mother sustains a mild, perhaps unrecognized viral infection, to which she produces Ro or La antibodies. The virus crosses the placenta and damages the infant myocardium while a specific maternal antibody, also crossing the placenta, localizes in the same area. The infection in the child is self-limiting, but it may persist in the mother so that a series of infants are affected. The mother's heart may also be damaged. An obvious viral candidate is a Coxsackie virus, since these viruses are common causes of myocarditis, show sequence homology with some intracellular proteins, and may persist in connective tissue diseases such as dermatomyositis. {15:Manthorpe and Manthorpe (1992)} found 4 children with congenital complete heart block among the offspring of 91 Swedish mothers and 71 Danish mothers with primary Sjogren syndrome--a relative risk of about 500, making the incidence of congenital heart block in the general population to be 1 per 20,000. {11:Julkunen et al. (1993)} did a retrospective clinical study of 33 mothers at a mean period of 11.2 years after the delivery of their first child with congenital heart block. By the time of the analysis, 2 of the 33 mothers had died and 6 had met the criteria for SLE. As a group, the mothers had clinical and immunologic characteristics more closely related to primary systemic sclerosis than to SLE or any other connective tissue disease. The predominant autoantibody response was to the SS-A/Ro antigens, notably to the 52-kD SS-A/Ro protein ({109092}), which was present in 97%.\n\n{17:Orth et al. (1996)} found increased autoantibody titers against human calreticulin ({109091}) in infants with complete congenital heart block.\n\n{6:Cooley et al. (1997)} described 2 pairs of monozygotic twins discordant for congenital complete heart block. Both mothers were positive for anti-Ro 52 and anti-Ro 60 antibodies, and neither had anti-La antibody on immunoblot. These cases demonstrated that there can be discordance in the development of congenital complete heart block despite identical genetics and presumably very similar exposure to anti-Ro antibody." +234750,{1:Stevenson et al. (1971)} described single ventricle in 2 sisters. +234800,"{1:Gluszcz et al. (1963)} described 4 sibs with cutaneous hemangiomatosis, acrocyanosis, hyperflexibility of joints, and phimosis. Some showed slight abnormalities of the vertebral bodies and ocular hypertelorism. In 2 (a female aged 15 and a male aged 19), tumors resembling cerebellar angioblastoma of von Hippel-Lindau disease ({193300}) were removed from the cervicothoracic portion of the spinal canal. See disseminated hemangiomatosis ({106070})." +234810,"Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertension (PPH; see {178600}). It is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. The disorder can cause occult alveolar hemorrhage. High-resolution CT imaging of the chest shows patchy centrilobular ground-glass opacities, septal lines, and lymph node enlargement (summary by {2:Eyries et al., 2014}).\n\nFor a discussion of genetic heterogeneity of pulmonary venoocclusive disease, see PVOD1 ({265450})." +234820,"Malignant tumors of the vascular system are relatively uncommon and usually have an unfavorable, rapid clinical course. Metastases usually occur early by hematogenous routes to the lung and bone as well as to the regional lymph nodes. These vascular tumors may develop anywhere and can be difficult to diagnose, both clinically and histologically. Histogenetically they are of 2 main types: malignant hemangioendotheliomas originating from intimal endothelial cells, and malignant hemangiopericytomas arising from adventitial perivascular cells or pericytes. {1:Plukker et al. (1988)} reported malignant hemangiopericytoma in a brother and sister, aged 19 and 22 years, respectively, and in a 25-year-old fifth cousin of theirs. In 1 patient the tumor originated in the scalp, in the second in the right lower quadrant of the abdomen, and in the third in the right orbit." +235000,"Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term 'hemihyperplasia' has replaced the term 'hemihypertrophy' to describe accurately the increase in cell number found in these patients. The incidence of isolated hemihyperplasia is estimated to be 1 in 86,000. Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood, particularly Wilms tumor ({194070}) ({16:Shuman et al., 2006}).\n\n{6:Hoyme et al. (1998)} provided an anatomic classification of hemihyperplasia: complex hemihyperplasia is involvement of half of the body, including at least 1 arm and 1 leg; affected parts may be contralateral or ipsilateral. Simple hemihyperplasia is involvement of a single limb. See also facial hemihyperplasia ({133900}).\n\nAlthough isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome (BWS; {130650}), neurofibromatosis (NF1; {162200}), Proteus syndrome ({176920}), and Klippel-Trenaunay-Weber syndrome ({149000}) ({16:Shuman et al., 2006})." +235200,"Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by {69:Feder et al., 1996}). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.\n\n{2:Adams and Barton (2007)} reviewed the clinical features, pathophysiology, and management of hemochromatosis.\n\n<Subhead> Genetic Heterogeneity of Hemochromatosis\n\nAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A ({602390}), caused by mutation in the HJV gene ({608374}) on chromosome 1q21, and HFE2B ({613313}), caused by mutation in the HAMP gene ({606464}) on chromosome 19q13. Hemochromatosis type 3 (HFE3; {604250}), an autosomal recessive disorder, is caused by mutation in the TFR2 gene ({604720}) on chromosome 7q22. Hemochromatosis type 4 (HFE4; {606069}), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene ({604653}) on chromosome 2q32. Hemochromatosis type 5 (HFE5; {615517}) is caused by mutation in the FTH1 gene ({134770}) on chromosome 11q12." +235370,"Heat-treated red cells undergo fragmentation and microspherocyte transformation in vitro. The same process occurs in vivo in severely burned persons. {2:Zarkowsky et al. (1975)} observed red cell morphology similar to that of the hemolytic anemia of burns in 3 children with congenital hemolytic anemia and demonstrated temperature-induced changes in the morphology and membrane composition of red cells. Two of the 3 patients were sibs. The parents of these 2 sibs showed normal red cell morphology and thermal sensitivity. Curiously, the sex of the patients was not stated. (See {1:Wiley and Gill (1976)} for another example of a presumed genetic, red cell membrane defect.)" +235400,"Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported ({18:Goodship et al., 1997}; {52:Taylor, 2001}; {55:Veyradier et al., 2003}; {37:Noris et al., 2003}). {38:Noris and Remuzzi (2009)} provided a detailed review of atypical HUS.\n\n<Subhead> Genetic Heterogeneity of Atypical Hemolytic Uremic Syndrome\n\nAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system ({24:Jozsi et al., 2008}). See AHUS2 ({612922}), AHUS3 ({612923}), AHUS4 ({612924}), AHUS5 ({612925}), and AHUS6 ({612926}). AHUS7 (see {615008}) is caused by mutation in the DGKE gene ({601440}), which is not part of the complement cascade system." +235500,Idiopathic pulmonary hemosiderosis has not been shown to be familial. That a generalized dysfunction of the macrophages system may be involved in some cases and that the defect may be genetically determined is suggested by the finding in some cases of deficiency of gamma-A globulin and of histologic alterations in the lymphoreticular organs compatible with an immune deficiency disorder. +235510,"Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by {2:Alders et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome\n\nSee also HKLLS2 ({616006}), caused by mutation in the FAT4 gene ({612411}) on chromosome 4q28, and HKLLS3 ({618154}), caused by mutation in the ADAMTS3 gene ({605011}) on chromosome 4q13." +235550,"Hepatic venoocclusive disease with immunodeficiency syndrome (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells (summary by {2:Roscioli et al., 2006})." +235700,"Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary by {14:van Wijk et al., 2003})." +235730,"Mowat-Wilson syndrome (MOWS) is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome ({609460}) but the 2 disorders are genetically distinct ({22:Mowat et al., 2003}). Goldberg-Shprintzen syndrome is caused by mutation in the KIFBP gene ({609367}) on chromosome 10q." +235740,"{1:Santos et al. (1988)} described a brother and sister, offspring of first-cousin parents, with a syndrome of Hirschsprung disease, polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness. {1:Santos et al. (1988)} thought this was different from the disorder in 2 male infants with Hirschsprung disease, polydactyly, and ventricular septal defect ({235750})." +235750,"This combination was described in 2 brothers by {1:Laurence et al. (1975)}. Fetoscopy was performed in a third pregnancy and the fetus, a male, was found to be normal." +236000,"Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by {27:Salipante et al., 2009})." +236100,"Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain and occurs after failed or abbreviated midline cleavage of the developing brain during the third and fourth weeks of gestation. HPE occurs in up to 1 in 250 gestations, but only 1 in 8,000 live births ({28:Lacbawan et al., 2009}). Classically, 3 degrees of severity defined by the extent of brain malformation have been described. In the most severe form, 'alobar HPE,' there is a single ventricle and no interhemispheric fissure. The olfactory bulbs and tracts and the corpus callosum are typically absent. In 'semilobar HPE,' the most common type of HPE in neonates who survive, there is partial cortical separation with rudimentary cerebral hemispheres and a single ventricle. In 'lobar HPE,' the ventricles are separated, but there is incomplete frontal cortical separation ({12:Corsello et al., 1990}). An additional milder form, called 'middle interhemispheric variant' (MIHV) has also been delineated, in which the posterior frontal and parietal lobes are incompletely separated and the corpus callosum may be hypoplastic ({28:Lacbawan et al., 2009}). Finally, microforms of HPE include a single maxillary median incisor or hypotelorism without the typical brain malformations (summary by {31:Mercier et al., 2011}). {10:Cohen (2001)} discussed problems in the definition of holoprosencephaly, which can be viewed from 2 different perspectives: anatomic (fixed) and genetic (broad). When the main interest is description, the anatomic perspective is appropriate. In genetic perspective, a fixed definition of holoprosencephaly is not appropriate because the same mutational cause may result in either holoprosencephaly or some microform of holoprosencephaly. {10:Cohen (2001)} concluded that both fixed and broad definitions are equally valid and depend on context.\n\n{36:Munke (1989)} provided an extensive review of the etiology and pathogenesis of holoprosencephaly, emphasizing heterogeneity.\n\nSee also schizencephaly ({269160}), which may be part of the phenotypic spectrum of HPE.\n\n<Subhead> Genetic Heterogeneity of Holoprosencephaly\n\nSeveral loci for holoprosencephaly have been mapped to specific chromosomal sites and the molecular defects in some cases of HPE have been identified. Holoprosencephaly-1 (HPE1) maps to chromosome 21q22. See also HPE2 ({157170}), caused by mutation in the SIX3 gene ({603714}) on 2p21; HPE3 ({142945}), caused by mutation in the SHH gene ({600725}) on 7q36; HPE4 ({142946}), caused by mutation in the TGIF gene ({602630}) on 18p11; HPE5 ({609637}), caused by mutation in the ZIC2 gene ({603073}) on 13q32; HPE6 ({605934}), mapped to 2q37; HPE7 ({610828}), caused by mutation in the PTCH1 gene ({601309}) on 9q22; HPE8 ({609408}), mapped to 14q13; HPE9 ({610829}), caused by mutation in the GLI2 gene ({165230}) on 2q14; HPE10 ({612530}), mapped to 1q41-q42; HPE11 ({614226}), caused by mutation in the CDON gene ({608707}) on 11q24; HPE12 ({618500}), caused by mutation in the CNOT1 gene ({604917}) on 16q21; HPE13 ({301043}), caused by mutation in the STAG2 gene ({300826}) on Xq25; and HPE14 ({619895}), caused by mutation in the PLCH1 gene ({612835}) on 3q25.\n\n{48:Wallis and Muenke (2000)} gave an overview of mutations in holoprosencephaly. They indicated that at least 12 different loci had been associated with HPE.\n\nMutations in genes involved in the multiprotein cohesin complex, including STAG2, have been shown to be involved in midline brain defects such as HPE. Mutations in some of those genes cause Cornelia de Lange syndrome (CDLS; see {122470}), and some patients with severe forms of CDLS may have midline brain defects. See, for example, CDLS2 ({300590}), CDLS3 ({610759}), and CDLS4 ({614701})." +236110,"{2:Holzgreve et al. (1984)} described a fetus with Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. {1:Bonnet et al. (1987)} described a similar case in a female infant with Potter sequence, heart defect, and cleft palate. A third case was described by {3:Legius et al. (1988)}, who used the designation Holzgreve-Wagner-Rehder syndrome. {4:Thomas et al. (1993)} reported 2 sibs as the first familial occurrence of the syndrome: one, a female, had hypoplastic left heart sequence and renal hypoplasia; the other, a male, had a complex congenital heart defect, renal agenesis, and cleft lip and palate.\n\n{5:Zlotogora et al. (1996)} described 4 sibs from healthy unrelated parents of Ashkenazi Jewish origin with Potter sequence with cleft lip/palate and cardiac anomalies. They proposed that these patients, as well as the 2 sibs reported by {4:Thomas et al. (1993)}, had a syndrome different from the one described by {2:Holzgreve et al. (1984)}, mainly because of the absence of polydactyly. They referred to this as Thomas syndrome and suggested that it is inherited as an autosomal recessive with marked variability." +236200,"Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS; {154700}), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by {75:Reish et al., 1995} and {88:Testai and Gorelick, 2010}).\n\nSome patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria ({39:Kelly et al., 2003})." +236250,"Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults. In the classic form, both thermostable and thermolabile enzyme variants have been identified ({30:Rosenblatt et al., 1992})." +236270,"Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase (MTR; {156570}). Clinical features are somewhat variable, but include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation. Methylmalonic aciduria is not present. Two complementation groups have been described based on fibroblast studies: CblE and CblG ({250940}) ({7:Watkins and Rosenblatt, 1988}). Cells from patients with CblE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. Cells from patients with CblG have defects in the methionine synthase enzyme under both conditions (summary by {2:Leclerc et al., 1996}).\n\nCblG is caused by mutation in the MTR gene." +236300,"{2:Hooft et al. (1962)}, of Ghent, Belgium, described a family in which 2 sisters had retarded physical development, erythematosquamous eruption, opaque leukonychia, mental retardation, and low serum lipids. One had tapetoretinal degeneration. Acanthocytosis and disturbance of intestinal absorption were not present; see abetalipoproteinemia ({200100})." +236400,"In 2 of 3 sons of third-cousin parents, {3:Keutel et al. (1970)} described humeroradial synostosis. {2:Frostad (1940)} reported recessive inheritance. The parents were from the same small village. The parents in the family reported by {6:Schroder (1932)} were likewise consanguineous. Humeroradial synostosis also occurs with the syndrome of multiple synostoses with brachymesophalangy ({186500}), with Pfeiffer syndrome ({101600}), and with the SC phocomelia syndrome ({269000}).\n\n{4:Ramer and Ladda (1989)} described sibs with nearly identical humeroradial synostosis. They found records of 9 families with 19 affected individuals with this phenotypic and genetic pattern. Despite the skeletal malformations, functional capability in these patients has been good. Most have been productively employed, and all were able to master their self-care skills. {4:Ramer and Ladda (1989)} included among the 9 families that reported by {1:Frankel (1942)} in which renal failure accompanied by hematuria and proteinuria developed in young adulthood. Since these patients had patellar subluxation or hypoplasia as well, it is likely that they had the nail-patella syndrome ({161200}), not the disorder discussed in this entry.\n\n{5:Richieri-Costa et al. (1986)} reported the case of an 11-month-old girl whose parents were first cousins and who had plagiobrachycephaly, prominent forehead, broad nasal root, small ears with hypoplastic lobes, an unusual type of multiple synostoses involving humeroradial, carpal, tarsal, and phalangeal joints, and apparent agenesis of the distal phalanges of the postaxial digits. Mental and somatic development was normal. Autosomal recessive inheritance was suggested." +236410,"See also humeroradial synostosis occurring as an autosomal dominant ({143050}) or autosomal recessive ({236400}) malformation.\n\n{1:Al-Hassnan and Teebi (2007)} reported 2 sisters, born of consanguineous Saudi parents, who had a syndromic form of humeroradial synostosis. Both children had a distinctive facial appearance with a high, broad forehead, high frontal hairline, sparse scalp hair, hypertelorism, epicanthus inversus, depressed nasal bridge, and exotropia, as well as low-set, posteriorly rotated, and malformed ears and short neck. Skeletal survey revealed bilateral humeroradial synostosis and rhizomelic limb shortening. Both girls had a very large anterior fontanel, cranium bifidum occultum, and plagiocephaly, but no craniosynostosis. At ages 2 and 3 years, respectively, both had achieved developmental milestones with mild delay. After an extensive review of the literature, {1:Al-Hassnan and Teebi (2007)} concluded that their cases represent a previously unrecognized syndromic disorder." +236500,"MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by {4:Frosk et al., 2017})." +236600,"Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by {4:Drielsma et al., 2012}).\n\nHydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius ({307000}), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia ({100800}) and in Hurler disease ({607014}).\n\n<Subhead> Genetic Heterogeneity of Congenital Hydrocephalus\n\nSee also HYC2 ({615219}), caused by mutation in the MPDZ gene ({603785}) on chromosome 9p23, and HYC3 ({617967}), caused by mutation in the WDR81 gene ({614218}) on chromosome 17p13.\n\nAn X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on ({308840}) on chromosome Xq28." +236640,"Among the offspring of unrelated healthy parents, {1:Game et al. (1989)} observed 4 fetuses with growth retardation, hydrocephalus with patent aqueduct of Sylvius, micrognathia, hypoplastic multilobed lungs, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias, foot deformities, and other defects. Occurrence in 4 sibs (3 female), including 1 pair of monochorionic diamniotic twins, suggested autosomal recessive inheritance. The diagnosis was made prenatally in all 4 cases, hydrocephalus being the most striking abnormality on ultrasound examination and present as early as the fourteenth week of gestation." +236670,"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures ({10:Dobyns et al., 1989}). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' ({17:Godfrey et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies (Type A)\n\nMuscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is genetically heterogeneous and can be caused by mutation in other genes involved in DAG1 glycosylation: see MDDGA2 ({613150}), caused by mutation in the POMT2 gene ({607439}); MDDGA3 ({253280}), caused by mutation in the POMGNT1 gene ({606822}); MDDGA4 ({253800}), caused by mutation in the FKTN gene ({607440}); MDDGA5 ({613153}), caused by mutation in the FKRP gene ({606596}); MDDGA6 ({613154}), caused by mutation in the LARGE gene ({603590}); MDDGA7 ({614643}), caused by mutation in the ISPD gene (CRPPA; {614631}); MDDGA8 ({614830}) caused by mutation in the GTDC2 gene (POMGNT2; {614828}); MDDGA9 ({616538}), caused by mutation in the DAG1 gene ({128239}); MDDGA10 ({615041}), caused by mutation in the TMEM5 gene (RXYLT1; {605862}); MDDGA11 ({615181}), caused by mutation in the B3GALNT2 gene ({610194}); MDDGA12 ({615249}), caused by mutation in the SGK196 gene (POMK; {615247}); MDDGA13 ({615287}), caused by mutation in the B3GNT1 gene (B4GAT1; {605517}); and MDDGA14 ({615350}), caused by mutation in the GMPPB gene ({615320})." +236690,"Normal-pressure hydrocephalus-1 (HYDNP1) is an autosomal dominant neurologic disorder characterized by the clinical triad of slowly progressive gait instability, urinary incontinence, and cognitive decline associated with ventricular enlargement on brain imaging with normal pressure of the cerebrospinal fluid (CSF). The onset of symptoms is usually in late adulthood; the symptoms are responsive to shunting. The disorder has been associated with recurrent respiratory infections and possible infertility issues, but the latter has not been confirmed (summary by {4:Takahashi et al., 2011} and {2:Morimoto et al., 2019})." +236700,"McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by {28:Schaefer et al., 2011})." +236730,"The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by {3:Daly et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Urofacial Syndrome\n\nUrofacial syndrome-2 (UFS2; {615112}) is caused by mutation in the LRIG2 gene ({608869}) on chromosome 1p13." +236750,"Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by {2:Bellini et al., 2009}).\n\nNonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis ({2:Bellini et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Hydrops Fetalis\n\nIn southeast Asia, alpha-thalassemia is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 ({141800}) and HBA2 ({141850}) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H ({613978}) hydrops fetalis syndrome (summary by {4:Chui and Waye, 1998}).\n\nOther genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., {606938.0013}), and many metabolic disorders, such as one form of Gaucher disease (e.g., {606463.0009}), infantile sialic acid storage disease ({269920}), mucopolysaccharidosis type VII ({253220}), glycogen storage disease IV ({232500}), congenital disorder of glycosylation type Ia ({212065}), and disorders of lymphatic malformation (see, e.g., LMPHM1, {153100})." +236800,"Hydroxykynureninuria, also known as xanthurenicaciduria, is an autosomal recessive condition characterized by high urinary excretion of kynurenine (KYN), xanthurenic acid (XA) and 3-hydroxykynurenine (3-OHKYN), with no detectable anthranilic acid (AA) or 3-hydroxyanthranilic acid (3-OHAA) ({2:Christensen et al., 2007})." +237000,Hydroxyproline is an imino acid normally present in human plasma. It is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. The finding of elevated (5- to 10-fold increase from the normal of less than 50 micromoles) serum hydroxyproline is thought to be an inherited defect in the catabolism of hydroxyproline. +237100,"{1:McIlroy and Ward (1930)} reported 3 sisters, aged 20, 16 and 14, who had not menstruated; all had imperforate hymen. The 2 older sibs had hematocolpos. Hydrometrocolpos of congenital type ({236700}) is due to transverse vaginal septum different from the hymen." +237300,"Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. There are 2 main forms: a lethal neonatal type and a less severe, delayed-onset type (summary by {15:Klaus et al., 2009}).\n\nUrea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency ({311250}), carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, or citrullinemia ({215700}), argininosuccinate lyase deficiency ({207900}), and arginase deficiency ({207800})." +237310,"N-acetylglutamate synthase deficiency is an autosomal recessive disorder of the urea cycle. The clinical and biochemical features of the disorder are indistinguishable from carbamoyl phosphate synthase I deficiency ({237300}), since the CPS1 enzyme ({608307}) has an absolute requirement for NAGS ({7:Caldovic et al., 2007})." +237400,"{2:Scriver et al. (1966)} described a somnolent convulsing male infant who had hyper-beta-alaninemia. Beta amino acids (beta-alanine, beta-amino-isobutyric acid and taurine) were excreted in excess in the urine, probably as a result of an interaction between beta-alanine and a specific cellular transport system with preference for beta-amino compounds. GABA (gamma-amino-butyric acid) was also present in the urine but this was independent of plasma levels of alanine. Postmortem tissues had elevated levels of beta-alanine and carnosine. The authors suggested a defect in beta-alanine-alpha-ketoglutarate transaminase which could expand the free beta-alanine pool and increase tissue carnosine. Beta-alanine is a central nervous system depressant. Inhibition of GABA transaminase and displacement of GABA from central nervous system binding sites may account for GABA-uria and convulsions. The parents were healthy and not related. Three half sibs were normal. One infant died 4 hours after birth with 'breathing trouble.' A fifth pregnancy ended in miscarriage.\n\n{1:Higgins et al. (1994)} demonstrated hyper-beta-alaninemia and a pyridoxine-responsive deficiency of beta-alanyl-alpha-ketoglutarate transaminase in a 4-year-old girl with intermittent metabolic encephalopathy. Her cultured fibroblasts were more sensitive to low concentrations of beta-alanine than were those of controls. Addition of 0.1 mM of pyridoxine abolished the toxic effects of beta-alanine in the cultures. The patient was treated for 2 years with oral pyridoxine during which time she had no further seizures or somnolence." +237450,"The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is similar to Dubin-Johnson syndrome (DJS; {237500}) in that affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. However, Rotor syndrome can be distinguished from DJS by a lack of hepatocyte pigment deposits, delayed plasma clearance of the unconjugated anionic dye bromsulfthalein, poor hepatic visualization on certain radiographic imaging studies, and prominent urinary excretion of coproporphyrin I (summary by {4:van de Steeg et al., 2012})." +237500,"Dubin-Johnson syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function (summary by {24:Wada et al., 1998})." +237550,"{1:Dhumeaux and Berthelot (1975)} described a third form of conjugated hyperbilirubinemia presumably distinct from either the Rotor form ({237450}) or the Dubin-Johnson form ({237500}). The plasma disappearance rate and hepatic transport maximum for sulfobromophthalein, dibromosulfophthalein, rose bengal, and indocyanin green were decreased, but the most striking feature was marked reduction in dye storage by the liver. Bilirubin UDP-glucuronyltransferase activity, plasma bile acid concentration and conventional liver function tests were all normal. A primary defect in hepatic uptake or storage of bilirubin was postulated. The proband was a 19-year-old Portuguese woman living in France. A brother was studied and found normal, but no other family studies were possible." +237800,"Primary shunt hyperbilirubinemia (PSHB) is a rare form of clinical jaundice characterized by increased serum levels of unconjugated bilirubin associated with ineffective erythropoiesis and a hyperplastic bone marrow. Peripheral red blood cell survival is normal (summary by {7:Wang et al., 2006}). Although primary shunt hyperbilirubinemia is clinically similar to Gilbert syndrome ({143500}), affected individuals do not have impaired activity of UDP-glucuronosyltransferase (UGT1A1; {191740}). The term 'shunt' refers to a 'shortcut' in bilirubin production, from the bone marrow or from very young red blood cells as opposed to being derived from the hemoglobin of mature circulating erythrocytes ({3:Israels et al., 1959})." +238320,"Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development. Two types of LCH have been defined ({16:Toledo, 1992}). Type I, a severe form caused by complete inactivation of LHCGR, is characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics. Type II, a milder form caused by partial inactivation of the gene, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. Females with inactivating mutations in the LHCGR gene display a mild phenotype characterized by defective follicular development and ovulation, amenorrhea, and infertility (review by {15:Themmen and Huhtaniemi, 2000}).\n\n<Subhead> Reviews\n\n{1:Arnhold et al. (2009)} noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to isolated LH deficiency (HH23; {228300}) are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor: all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB ({152780}) mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG; {118860}) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility." +238340,"There are 2 branched-chain amino acid transferases, BCT1 ({113520}) and BCT2 ({113530}). There is evidence, furthermore, that the transamination of valine may be separate from the transamination of leucine and isoleucine (see {277100}). The only description of a leucine-isoleucine abnormality was provided by {1:Jeune et al. (1970)} in a French family. A brother and sister presented at ages 2 to 3 months with seizures, failure to thrive, and mental retardation. The girl had retinal degeneration and sensorineural hearing loss as well. Blood analysis showed elevated concentrations of leucine, isoleucine, and proline with normal levels of valine. Aminotransferase activity in the leukocytes of these 2 patients showed decreased transfer from leucine and isoleucine but normal activity with valine. Treatment with diets low in leucine and isoleucine did not improve the clinical phenotype and the boy died in his third year." +238350,"{3:Silberberg and Silberberg (1967)} defined the term 'hyperlexia' to describe children who read at levels beyond those expected for their mental age in the face of disordered oral communication. {4:Turkeltaub et al. (2004)} stated that there are 3 consistent features of hyperlexia: the presence of a developmental disorder of communication, most often an autistic spectrum disorder ({209850}); acquisition of reading skills prior to age 5 years without explicit instruction; and advanced word recognition ability relative to mental age, with reading comprehension on par with verbal ability.\n\nAmong a group of 66 children with autism, {2:Burd et al. (1985)} identified 4 with hyperlexia.\n\n{1:Burd and Kerbeshian (1988)} described a brother and sister who began reading at about age 3 before receiving instruction and spent much time thereafter reading from encyclopedias, dictionaries, almanacs, and newspapers at ages 4 to 6. Both were thought to have 'pervasive developmental disorder,' which includes autism and Tourette syndrome ({137580}).\n\nUsing functional MRI (fMRI) to study a 9-year-old boy with hyperlexia during covert reading, {4:Turkeltaub et al. (2004)} found greater activity in the left inferior frontal and posterior superior temporal cortical areas, and in the right inferior temporal cortical areas compared to controls. The authors suggested that precocious reading simultaneously draws on both left hemisphere phonologic and right hemisphere visual systems. The boy's reading comprehension ability fell in the average range, despite his advanced word decoding rate and accuracy and high IQ, further suggesting a diversion of attention resources from semantic aspects of reading to phonologic and visual aspects. {4:Turkeltaub et al. (2004)} noted that dyslexia (see {127700}) had been associated with hypoactivation of the left superior temporal cortex." +238700,"Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant (summary by {21:Tondo et al., 2013}; {16:Houten et al., 2013}).\n\nThe AASS gene encodes a bifunctional enzyme: lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia type I, both enzymatic functions of AASS are defective; in hyperlysinemia type II, also known as saccharopinuria ({268700}), some of the first enzymatic function is retained ({8:Cox, 1985}; {7:Cox et al., 1986})." +238710,{1:Oyanagi et al. (1986)} described 2 sibs with hyperlysinemia and mental retardation in whom the enzyme activities of lysine-alpha-ketoglutarate reductase ({238700}) and saccharopine dehydrogenase ({268700}) in liver were normal. Studies on lysine oxidation in cultured skin fibroblasts suggested that the hyperlysinemia in these patients was due to a defect of transport of lysine into mitochondria. +238750,"{1:Brown et al. (1972)} described a physically and mentally retarded child with dibasicaminoaciduria and hyperammonemia. Oral loading tests showed diminished capacity for absorbing lysine. Fasting blood arginine and lysine concentrations were low. Postprandial hyperammonemia was thought to be due to deficiency of arginine to serve as substrate for urea cycle activity. The defect in intestinal absorption distinguishes this disorder from familial protein intolerance ({222690}, {222700}). In periodic hyperlysinemia, normal protein intake results in hyperlysinemia and high protein intake or administration of a lysine load precipitates severe hyperammonemia and coma. Hyperammonemia is thought to result from the elevated levels of lysine competitively inhibiting arginase, which catalyzes the last step in urea formation. A partial deficiency (25% of normal) of L-lysine dehydrogenase, the enzyme that converts lysine to an alpha-keto-epsilon aminocaproic acid, has been demonstrated in a liver biopsy from a single patient (a 3-month-old girl) ({2:Ghadimi, 1978}). No information is available on the genetics of this disorder." +238800,"{1:Luft et al. (1962)} observed a 35-year-old patient with a BMR of 150 to 200% since at least 7 years of age, yet with normal thyroid function. Studies of mitochondria from skeletal muscle showed a defect of coupling between oxidation and phosphorylation. The parents were not related and no other cases were recognized in the family. However, the possibility of a genetic basis was raised. {3:Van Wijngaarden et al. (1967)} provided follow-up on the patient of {1:Luft et al. (1962)} and described another case of myopathy with mitochondrial abnormality.\n\nNo evidence of a genetic basis (parental consanguinity, affected relatives) was found in the case of chronic 'mitochondrial myopathy' described by {2:Morgan-Hughes et al. (1977)} as having deficiency of reducible cytochrome b." +238950,"{2:Forsius (1978)} reported an 8-year-old boy with high-grade hyperopia and indicated that it is usually recessive. Forsius's colleague, Eriksson, has high hyperopia ({1:Eriksson, 1978}). Since his mother had the same refractive error, this may represent pseudodominance." +238970,"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) is an autosomal recessive, chronic and progressive disorder of the urea cycle with typical age of onset in early life. The acute phase is characterized by hyperammonemia accompanied by vomiting, ataxia, lethargy, confusion, and coma. Chronically, aversion to protein-rich foods, coagulation abnormalities, hypotonia, developmental delay, progressive encephalopathy with mental regression, and signs of motor dysfunction are present. About 95% of patients survive after diagnosis and therapy is established. However, in early adulthood most patients develop signs of pyramidal tract dysfunction (summary by {28:Tessa et al., 2009})." +239000,"Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by {15:Naot et al., 2014}).\n\nFor discussion of genetic heterogeneity of Paget disease of bone, see {167250}." +239100,"Van Buchem disease is an autosomal recessive bone dysplasia characterized by a symmetrically increased thickness of bones, most frequently found as an enlarged jawbone, but also an enlargement of the skull, ribs, diaphysis of long bones, as well as tubular bones of hands and feet, resulting in increased cortical bone density. The clinical consequences of increased thickness of the skull include facial nerve palsy causing hearing loss, visual problems, neurologic pain, and very rarely, blindness resulting from optic atrophy. Bone anomalies appear in the first decade of life and progress with age (summary by {14:Wergedal et al., 2003})." +239199,"Among the children of healthy, nonconsanguineous Japanese parents, {1:Nishiyama et al. (1990)} described 3 sibs, a boy and 2 girls, with hypercalciuria, nephrocalcinosis, and renal tubular acidosis. All 3 demonstrated an exaggerated response of serum parathyroid hormone to serum calcium and higher elevations of serum calcium with oral calcium loading. Hypercalcemia associated with the abnormal response of parathyroid hormone secretion disappeared after the age of about 2 years, although renal tubular acidosis and nephrocalcinosis remained. Autosomal recessive inheritance was suggested. The disorder in the first sib was diagnosed at age 4 months when the boy showed failure to thrive and vomiting. None of the sibs had facial or cardiac features of Williams syndrome. The second affected sib was diagnosed at the age of 2 months. In the third, nephrocalcinosis was suspected in utero because of high echo densities in the kidney. The diagnosis of hypercalcemia accompanied by metabolic acidosis was confirmed at the age of 5 days." +239200,"Neonatal severe hyperparathyroidism usually manifests in the first 6 months of life with severe hypercalcemia, bone demineralization, and failure to thrive. Early diagnosis is critical because untreated NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. Some infants have milder hyperparathyroidism and a substantially milder clinical presentation and natural history (summary by {3:Egbuna and Brown, 2008})." +239300,"Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by {4:Krawitz et al., 2010}). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 ({610293}).\n\n<Subhead> Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation Syndrome\n\nSee also HPMRS2 ({614749}), caused by mutation in the PIGO gene ({614730}) on chromosome 9p13; HPMRS3 ({614207}), caused by mutation in the PGAP2 gene ({615187}) on chromosome 11p15; HPMRS4 ({615716}), caused by mutation in the PGAP3 gene ({611801}) on chromosome 17q12; HPMRS5 ({616025}), caused by mutation in the PIGW gene ({610275}) on chromosome 17q12; and HPMRS6 ({616809}), caused by mutation in the PIGY gene ({610662}) on chromosome 4q22.\n\n{3:Knaus et al. (2018)} provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. {3:Knaus et al. (2018)} concluded that a distinction between HPMRS and MCAHS (see, e.g., {614080}), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD)." +239350,"In 3 of 4 children of a nonconsanguineous marriage, {1:Miller et al. (1975)} described a disorder characterized by intermittent polyuria and hyperphosphatemia occurring either separately or together. The 3 children also had seizures. Clinical features of the hyperphosphatemia were irritability, refusal of solid food, vomiting and diarrhea, high-pitched cry, carpopedal spasm, and finally overt tetany and a spiking fever. The phosphorus was measured as high as 19.2 mg per dl." +239500,"{15:Phang et al. (2001)} noted that prospective studies of HPI probands identified through newborn screening as well as reports of several families have suggested that it is a metabolic disorder not clearly associated with clinical manifestations. {15:Phang et al. (2001)} concluded that HPI is a relatively benign condition in most individuals under most circumstances. However, other reports have suggested that some patients have a severe phenotype with neurologic manifestations, including epilepsy and mental retardation ({10:Jacquet et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Hyperprolinemia\n\nSee also hyperprolinemia type II (HYRPRO2; {239510}), which is caused by mutation in the gene encoding pyrroline-5-carboxylate dehydrogenase (P5CDH, ALDH4A1; {606811}) on chromosome 1p36." +239711,"{1:Farag and Teebi (1990)} described 3 brothers, the offspring of first cousins once removed, with this combination. The father had hypertelorism and a brother of his, who was married to a second cousin, had a daughter with hypertelorism and tetralogy of Fallot. All 4 affected relatives had mild or borderline mental retardation." +239840,"An Arab woman and her 12-year-old child had congenital hypertrichosis in the anterior cervical region associated with peripheral sensory and motor neuropathy ({2:Trattner et al., 1991}). The son had a painless ulcer of the foot and osteomyelitis in bones of the feet. The mother was a first cousin of her husband and the husband had a sister with the same combination of cervical hypertrichosis and neuropathy. This suggests that the trait is autosomal recessive. {1:Ardinger (1993)} described a boy with anterior cervical hypertrichosis present since early infancy, developmental delay, and peripheral neuropathy." +239850,"Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair which extends onto the forehead and to a general increase in body hair. Some features are suggestive of a storage disorder, including macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth, and full lips. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability (summary by {12:van Bon et al., 2012})." +239900,{1:Gold and Hogenhuis (1968)} observed this combination in 2 sisters and their brother of Hindu extraction. Spinal fluid protein was moderately elevated. Severe distal sensory and motor loss was present. +240000,"{1:Nyhan et al. (1969)} reported a 3-year-old boy with mental retardation, dysplastic teeth, failure to cry with tears, absent speech, and autistic behavior. HGPT was normal, whereas the activity of adenine phosphoribosyltransferase was increased. Nothing is known about its genetics." +240150,"{1:Carpenter et al. (1987)} described a boy who at age 3 complained of severe leg pains and was found to have periosteal new bone formation in several bones, increased intracranial pressure with splayed cranial sutures, and hypercalcemia. An erythematous, exfoliative rash, alopecia totalis, liver disease, and ascites ensued. He died of renal failure associated with severe coagulopathy, pneumonia, and sepsis. The main source of extra vitamin A was thought to be a chicken liver spread. This had been ingested also by the younger brother who likewise had recurrent otitis media from an early age and later developed leg pain and nausea with papilledema. A marked restriction of vitamin A was inadequate in controlling recurrent and severe disease. For that reason, 2-hydroxypropyl-beta-cyclodextrin was used in an attempt to increase urinary excretion of vitamin A. Because both parents and a sister had similar intake of vitamin A, unusual intolerance of vitamin A was suspected on a genetic basis in the 2 brothers. The family was of European-Jewish extraction; the parents were not related. {2:Schurr et al. (1983)} described a similar case in a patient of European-Jewish extraction and likewise postulated heritable variability in vitamin A tolerance." +240200,"Addison disease falls into the same category as pernicious anemia, systemic lupus erythematosus, myasthenia gravis, and Hashimoto thyroiditis, in which an autoimmune basis is suggested by some evidence and in which familial aggregation occurs. In all these conditions, the role of a single genetic locus in etiology is unclear. The isolated form of Addison disease is less frequent than that combined with other endocrinopathies, particularly hypoparathyroidism (see {240300}). A noteworthy feature is the lack of hypoaldosteronism ({11:Stempfel and Engel, 1960}; {9:Shepard et al., 1959}). Androgen metabolism could not be tested. These cases may well have a defect limited to corticoid metabolism. Some of these cases may with more validity be classed as adrenal unresponsiveness to ACTH ({202200}).\n\n{1:Berlin (1952)} reported Addison disease in brother and sister, the latter having also pernicious anemia. {3:Brochner-Mortensen (1956)} described Addison disease in 2 brothers and 2 of their maternal uncles. {6:Meakin et al. (1959)} described 2 brothers with onset of adrenal insufficiency at age 3 to 4 years.\n\n{12:Williams and Freeman (1965)} reported adrenal cortical hypofunction without salt loss in 3 of 4 children of second-cousin parents. {8:O'Donohoe and Holland (1968)} described autopsy-proven adrenal hypoplasia in a sister of 2 affected males. {5:Lemli and Smith (1968)} reported affected sisters. The histologic findings differ in the X-linked ({300200}) and autosomal recessive forms of adrenal hypoplasia. In the former, the adrenal cortex shows disorganization with poor differentiation of cortical zones and presence of scattered clumps of eosinophilic cells. This is sometimes referred to as the cytomegalic type because of the large cells present as the only remaining cortical tissue. In the latter, there is absence or near-absence of both fetal and permanent cortex. This is sometimes called the 'miniature adult' type because the small adrenal cortex consists almost exclusively of permanent cortex. The latter type occurs either sporadically or as an autosomal recessive condition and may occur alone or, as is often the case, accompanied by anomalies of the brain and pituitary gland, as in anencephaly, or with pituitary gland abnormalities alone. {2:Boyd and MacDonald (1960)} reported marked hyperplasia of pituitary basophilic cells. Congenital hypoadrenocorticism may be misdiagnosed as 'sudden infant death syndrome.'\n\nIn the majority of cases, Addison disease is a component of an autoimmune polyendocrine syndrome, or APS ({4:Gambelunghe et al., 1999}). APS1 ({240300}), a rare disorder, is caused by mutation in the AIRE gene ({607358}), which resides on chromosome 21. APS2 ({269200}), more frequently found in adult patients, is a complex multigenic disease. The major histocompatibility complex class I chain-related MICA ({600169}) and MICB ({602436}) genes are located on chromosome 6 between the HLA-B ({142830}) and the B-associated transcript (see {142560}) genes. The presence of 21-hydroxylase autoantibodies is a sensitive and specific marker of autoimmune Addison disease. {4:Gambelunghe et al. (1999)} evaluated the association of APS2-Addison disease with both MICA and MICB gene polymorphism 28 autoimmune (21-hydroxylase autoantibody-positive) Addison disease patients and in 75 healthy subjects from central Italy. They found evidence for a primary association of autoimmune Addison disease with the exon 5 microsatellite polymorphism of the MICA gene (MICA5.1). The MICA5.1 allele was significantly more frequent in Addison disease patients (79%) than in healthy subjects (36%) whereas MICA6 was significantly reduced in affected subjects. The A5.1/A5.1 genotype had an odds ratio for autoimmune Addison disease as high as 18.0 and an absolute risk of 1 per 1,131. In the presence of MICA5.1, MICB/CA-25 was significantly increased in Addison disease patients (15% vs 56%). The MICB/CA-17 allele was absent in Addison disease patients, but present in more than 25% healthy individuals. Among HLA-DR and -DQ haplotypes, only DRB1*03-DQA1*0501-DQB1*0201 (DR3/DQ2) was significantly more frequent in Addison disease patients than in healthy subjects, but only in the presence of MICA5.1. The authors concluded that susceptibility to autoimmune Addison disease is linked to the MICA microsatellite allele 5.1 and that both MICA5.1 and HLA-DR3/DQ2 are necessary to confer increased genetic risk for Addison disease.\n\n{10:Skinningsrud et al. (2008)} presented evidence suggesting an association between autoimmune Addison disease and a 1858C-T SNP ({dbSNP rs2476601}) in the PTPN22 gene ({600716.0001}) on chromosome 1p13. In a metaanalysis of 3 studies, including their own, comprising 563 European patients with the disorder, the authors found an odds ratio of 1.36 (p = 0.003) for carriers of the T allele." +240300,"Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis ({50:Neufeld et al., 1981}). However, variable APS1 phenotypes have been observed, even among sibs. In addition, some patients may exhibit apparent isolated hypoparathyroidism, an early manifestation of APS1 with peak incidence at around age 5 years; over longterm follow-up, the development of additional features of APS1 may be observed ({17:Cranston et al., 2022})." +240400,"As far as is known, all members of the human species lack the ability to synthesize ascorbic acid because man, unlike most other mammals, does not possess the enzyme L-gulonolactone oxidase ({EC 1.1.3.8}). As {14:Stone (1967)} pointed out, hypoascorbemia is an inborn error of metabolism. Borrowing a term from the blood groups, we might say that it is a 'public' inborn error of metabolism. The mechanism whereby an organism loses a particular metabolic function which is of no use in a particular environment was discussed by {5:King and Jukes (1969)}. The accumulation of random mutations in the gene for the relevant enzyme might be expected to destroy the functional capacity of the enzyme, most mutations being disruptive. If the enzyme is not required in the particular environment, the constraint of selection is removed. Primates and the guinea pig, by this hypothesis, have lost the capacity to synthesize ascorbic acid because of the adequacy of dietary intake. An intraspecies example of this phenomenon may be the loss of adult intestinal lactase in people who do not consume milk. {11:Nishikimi and Udenfriend (1976)} showed that primate and guinea pig liver contains no cross-reacting material for L-gulono-gamma-lactone oxidase. {10:Nishikimi et al. (1988)} isolated a cDNA encoding L-gulono-gamma-lactone oxidase of the rat. Northern blot hybridization using the cDNA as a probe demonstrated that guinea pigs lack mRNA for this enzyme. Nevertheless, existence of a DNA sequence related to this enzyme was demonstrated in the genome of both the guinea pig and the human by Southern blot hybridization. The degree of hybridization in the human was less than in the animals possessing the enzyme, suggesting that the human L-gulono-gamma-lactone oxidase gene has diverged more rapidly than the genes of ascorbic acid-synthesizing species. This hypothesis was confirmed by a comparison of a partial nucleotide sequence of the human gene with that of the rat gene. The sequences in the guinea pig and human genomes may represent the remnants of the gene for the enzyme that was once active but became nonfunctional during the course of evolution.\n\n{9:Nishikimi et al. (1992)} demonstrated that guinea pigs, which, like humans and other primates, cannot synthesize vitamin C, contain a nucleotide sequence of a once active gulonolactone oxidase gene which cross-hybridized to a rat cDNA; this despite the fact that no detectable gulonolactone oxidase-specific mRNA or cross-reactive protein was recognizable by anti-rat GLO rabbit antibody. Comparison of the guinea pig gene with the rat gene demonstrated absence of regions corresponding to exons 1 and 5 as well as other deletions and nonconformance to the GT/AG rule at one of the putative intron/exon boundaries. There were also a large number of mutations in the amino acid-coding regions of the guinea pig sequence, many of which led to nonconservative amino acid changes, and there were 3 stop codons as well. On the basis of the neutral theory of evolution, the date of the loss of the L-gulono-gamma-lactone oxidase in the ancestors of the guinea pig was roughly calculated to be less than 20 million years ago.\n\nThe disorder of osteogenesis present in the Shionogi rat represents a susceptibility to scurvy because of lack of L-gulono-gamma-lactone oxidase. {4:Kawai et al. (1992)} demonstrated that the mutant cDNA has a single base mutation from G to A at nucleotide 182, which changes amino acid 61 from cys to tyr. To test the effect of the cys61-to-tyr mutation, they transfected COS-1 cells with a vector containing the mutant cDNA and showed that the amino acid substitution both decreased the amount of immunologically detectable protein and the level of enzyme activity to about one-tenth of their normal values, while it did not affect the amount of mRNA produced in the transfected cells. Thus, scurvy is a rare inborn error of metabolism in the rat.\n\n{8:Nishikimi et al. (1994)} isolated a segment of the nonfunctional L-gulono-gamma-lactone oxidase gene from a human genomic library and mapped it to 8p21.1 by spot blot hybridization using flow-sorted human chromosomes and fluorescence in situ hybridization. The isolated segment represented the 3-prime part of the gene, where the regions corresponding to exons 7, 9, 10, and 12 of the rat gene remained with probable deletion of the regions corresponding to exons 8 and 11. A large number of other mutations were found.\n\n{7:Levine et al. (1996)} performed an in-hospital depletion-repletion study of the relationship between vitamin C dose and steady-state plasma concentration. Seven healthy volunteers were hospitalized for 4 to 6 months and consumed a diet containing less than 5 mg of vitamin C daily. Steady-state plasma and tissue concentrations were determined at 7 daily doses of vitamin C from 30 to 2,500 mg. Vitamin C steady-state plasma concentrations as a function of dose displayed sigmoid kinetics. The steep portion of the curve occurred between the 30- and 100-mg daily dose, the then-current recommended daily allowance (RDA) of 60 mg was on the lower third of the curve, the first dose beyond the sigmoid portion of the curve was 200 mg daily, and complete plasma saturation occurred at 1,000 mg daily. No vitamin C was excreted in the urine of 6 of 7 volunteers until the 100-mg dose was reached. At single doses of 500 mg and higher, bioavailability declined and the absorbed amount was excreted. Oxalate and urate excretion were elevated at 1,000 mg of vitamin C daily compared to lower doses. Based on these data, {7:Levine et al. (1996)} recommended that the RDA of vitamin C be increased to 200 mg daily, which can be obtained from fruits and vegetables. Safe doses of vitamin C are less than 1,000 mg daily, and vitamin C daily doses above 400 mg have no evident value.\n\nThe absorption of vitamin C into the body and its distribution to organs requires the sodium-coupled vitamin C transporters SVCT1 (SLC23A2; {603790}) and SVCT2 (SLC23A1; {603791}). SVCT1 is largely confined to epithelial surfaces involved in bulk transport, such as those of the intestine and kidney, whereas SVCT2 appears to account for tissue-specific uptake of vitamin C. SVCT2 expression is widespread, occurring in neurons, the endocrine system, bone, and other tissues ({2:Hediger, 2002}). {13:Sotiriou et al. (2002)} demonstrated that SLC23A1 is essential for transport of vitamin C into the brain and for perinatal survival. Previously, the only proven requirement for ascorbic acid was in preventing scurvy, presumably because vitamin C is a cofactor for hydroxylases required for posttranslational modifications that stabilize collagen." +240950,"{1:Lubinsky (1983)} reported the cases of 3 brothers with cataracts (appearing in adolescence) and infertility. Elevated follicle-stimulating hormone (FSH) levels suggested testicular failure. The parents were second cousins of German Mennonite ancestry. Hypogonadism and cataracts occur with several other disorders, e.g., myotonic dystrophy, which could be excluded." +241000,{1:Kraus-Ruppert (1958)} described 3 brothers from a consanguineous mating. Syndactyly of the second to fourth toes and eunuchoidism were also present. The testes showed no spermatogenesis and the interstitium was occupied mainly by connective tissue. +241100,"Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome ({312300}), Kallmann syndrome (see {308700}), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity ({2:Nowakowski and Lenz, 1961})." +241200,"Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed ({17:Simon et al., 1997}).\n\nPatients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by {18:Simon et al., 1996} and {4:Fremont and Chan, 2012}).\n\nFor a discussion of genetic heterogeneity of Bartter syndrome, see {607364}." +241310,"Hypomandibular faciocranial syndrome consists of craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, severe mandibular hypoplasia, and various extracephalic anomalies (summary by {1:Gorlin et al., 2001})." +241410,"HRDS is an autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay (summary by {7:Padidela et al., 2009} and {10:Ratbi et al., 2015})." +241500,"Hypophosphatasia (HPP) is an inborn error of metabolism characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase.\n\n{14:Fraser (1957)} classified forms of hypophosphatasia according to age of onset: perinatal, infantile, childhood ({241510}), and adult ({146300}). {58:Whyte (1988)} indicated a fifth form of hypophosphatasia with primarily only dental manifestations, referred to as odontohypophosphatasia (see {146300}). All of these forms are allelic." +241510,"Hypophosphatasia (HPP) is an inborn error of metabolism characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. {1:Fraser (1957)} classified forms of hypophosphatasia according to age of onset: perinatal (see {241500}), infantile ({241500}), childhood, and adult ({146300}). {6:Whyte (1988)} indicated a fifth form of hypophosphatasia with primarily only dental manifestations, referred to as odontohypophosphatasia (see {241500}). All of these forms are allelic." +241519,"{1:Chitayat et al. (1990)} reported 2 brothers with renal hypophosphatemia, intracerebral calcifications, and short distal phalanges. The children presented with recurrent dental abscesses. One had premature closure of the anterior fontanel. Biochemical findings included hypophosphatemia and elevated serum alkaline phosphatase with normal serum calcium levels. Blood levels of parathyroid hormone and vitamin D were normal. Measures of tubular reabsorption of phosphate gave low values. Both parents had normal serum phosphate and brain CT scan." +241530,"Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by {2:Bergwitz et al., 2006})." +241540,"{1:Yagi et al. (1994)} presented the cases of 3 brothers with congenital hypopituitarism (see {613038}) and central diabetes insipidus (see {125700}). All 3 showed clinical features typical of congenital hypopituitarism: neonatal hypoglycemia, short stature, protruding forehead, and microgenitalia. All had hypoplastic genitalia indicating in utero gonadotropin deficiency, and all had complete growth hormone deficiency. One had low levels of thyroid hormones and TSH, indicating central hypothyroidism. Two water deprivation tests showed complete arginine vasopressin deficiency in two and partial deficiency in the third. Magnetic resonance imaging indicated absence of the pituitary stalk and severe hypoplasia of the anterior pituitary in all 3 brothers. The posterior pituitary was absent in 2 of the 3; the other sib had an ectopic posterior pituitary." +241550,"Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged ({1:Brekke, 1953}).\n\n<Subhead> Genetic Heterogeneity of Hypoplastic Left Heart Syndrome\n\nHypoplastic left heart syndrome-2 (HLHS2; {614435}) is caused by mutation in the NKX2-5 gene ({600584}) on chromosome 5q35.1.\n\nSomatic mutations in the HAND1 gene ({602406}) have been identified in tissue samples from patients with HLHS." +241760,"In a socially and religiously isolated Cape Malay community in South Africa, {1:Goldblatt et al. (1987)} described 3 brothers with hypospadias and mental retardation in association with microcephaly, craniofacial dysmorphism, joint laxity, and beaked nails. One of the brothers had trigonocephaly. Although there was no known close consanguinity, the social isolation suggested that such might exist." +241800,"Pallister-Hall-like syndrome (PHLS) is a pleiotropic autosomal recessive disorder characterized by phenotypic variability. Patients exhibit postaxial polydactyly as well as hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. Hirschsprung disease has also been observed ({6:Rubino et al., 2018}; {4:Le et al., 2020}).\n\nPallister-Hall syndrome ({146510}) is an autosomal dominant disorder with features overlapping those of PHLS, caused by mutation in the GLI3 gene ({165240})." +242050,"{1:Sperling et al. (1974)} described this combination. Renal clearance of uric acid was greatly increased. Two brothers and a sister were affected, together with 2 grandchildren, products of a first-cousin marriage of obligatory heterozygotes. Hypouricemia occurs with xanthine oxidase deficiency ({278300}), Wilson disease ({277900}), and Fanconi renotubular syndrome ({134600}) and as a primary renal hypouricemia ({220150})." +242100,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({10:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {8:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300})." +242150,"Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) is characterized by neonatal-onset ichthyotic erythroderma and profound sensorineural deafness, with failure to thrive and developmental delay in childhood. Severe corneal scarring with vision loss has been observed in adulthood. Low plasma copper and ceruloplasmin levels have been reported in some patients ({1:Alsaif et al., 2019}; {2:Boyden et al., 2019}).\n\nAn autosomal dominant form of KID syndrome (KIDAD; {148210}) is caused by mutation in the GJB2 gene ({121011}) on chromosome 13q12." +242300,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {17:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({32:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {16:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {26:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {14:Eckl et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Congenital Ichthyosis\n\nAutosomal recessive congenital ichthyosis-2 (ARCI2; {242100}) is caused by mutation in the ALOX12B gene ({603741}) on chromosome 17p13. ARCI3 ({606545}) is caused by mutation in the ALOXE3 gene ({607206}) on chromosome 17p13. ARCI4A ({601277}) and ARCI4B (harlequin ichthyosis; {242500}) are caused by mutation in the ABCA12 gene ({607800}) on chromosome 2q35. ARCI5 ({604777}) is caused by mutation in the CYP4F22 gene ({611495}) on chromosome 19p13. ARCI6 ({612281}) is caused by mutation in the NIPAL4 gene (ichthyin; {609383}) on chromosome 5q33. ARCI7 ({615022}) has been mapped to chromosome 12p11. ARCI8 ({613943}) is caused by mutation in the LIPN gene ({613924}) on chromosome 10q23. ARCI9 ({615023}) is caused by mutation in the CERS3 gene ({615276}) on chromosome 15q26. ARCI10 ({615024}) is caused by mutation in the PNPLA1 gene ({612121}) on chromosome 6p21. ARCI11 ({602400}) is caused by mutation in the ST14 gene ({606797}) on chromosome 11q24. ARCI12 ({617320}) is caused by mutation in the CASP14 gene ({605848}) on chromosome 19p13. ARCI13 ({617574}) is caused by mutation in the SDR9C7 gene ({609769}) on chromosome 12q13. ARCI14 ({617571}) is caused by mutation in the SULT2B1 gene ({604125}) on chromosome 19q13.\n\nIchthyosis prematurity syndrome ({608649}) is a self-improving form of ichthyosis that includes respiratory complications at birth and persistent eosinophilia and is caused by mutation in the FATP4 (SLC27A4; {604194}) gene. A rare syndromic form of NCIE, Chanarin-Dorfman syndrome ({275630}), is caused by mutation in the ABHD5 gene ({604780})." +242400,{1:Gould (1854)} described 2 sibs with this combination. +242500,"Harlequin ichthyosis is a rare severe form of congenital ichthyosis, which may be fatal. The neonate is encased in an 'armor' of thick scale plates separated by deep fissures. There is bilateral ectropion and eclabium, and the nose and ears are flattened and appear rudimentary. Constricting bands around the extremities can restrict movement and cause digital necrosis. As the skin barrier is severely compromised, neonates are more prone to sepsis, dehydration, and impaired thermoregulation. Treatment with oral retinoids encourages shedding of the grossly thickened skin. Babies who survive into infancy and beyond develop skin changes resembling severe nonbullous congenital ichthyosiform erythroderma (see {242300}) (summary by {21:Rajpopat et al., 2011}).\n\nAt the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass lamellar ichthyosis (LI), nonbullous congenital ichthyosis erythroderma (NCIE), and harlequin ichthyosis ({19:Oji et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300})." +242530,"In an Iranian family, {1:Passwell et al. (1975)} described a combination of congenital ichthyosis, mental retardation, dwarfism, and renal impairment. Two sisters and a brother were affected as well as a female who was a half sister of both parents (the offspring of the mother of the mother by the father of the father)." +242550,"{1:Yesudian and Srinivas (1977)} described a disorder which, like Netherton disease ({256500}), has ichthyosis and abnormality of the hair. Unlike Netherton disease, the ichthyosis is lamellar and the hair abnormality is 'split hairs.' A brother and sister with unrelated parents were born as collodion babies. The girl was mentally retarded. The urine of both showed an excess of arginine, serine, lysine and alanine and absence of proline and hydroxyproline." +242600,"The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age ({2:Chesney, 2001}). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG; {138500}) (summary by {1:Broer et al., 2008}).\n\nIminoglycinuria may be more frequent in Ashkenazim than in others ({13:Tancredi et al., 1970}).\n\nIminoglycinuria also occurs as part of the generalized amino aciduria of the Fanconi renotubular syndrome ({134600})." +242700,"T-cell immunodeficiency with thymic aplasia (TIDTA) is an autosomal recessive disorder that is often detected at birth through newborn SCID screening with the finding of decreased T-cell receptor excision circles (TRECs). Affected individuals have selective hypo- or aplasia of the thymus, which results in T-cell immunodeficiency due to impaired T-cell development and increased susceptibility to viral infections. The phenotype is similar to T-/B+/NK+ SCID. Some patients may die in childhood; thymus transplantation may be curative (summary by {3:Du et al., 2019})." +242840,"Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy (summary by {7:Finocchi et al., 2012})." +242850,"This disorder is characterized by partial deficiency of both humoral and cellular systems, the principal finding being a severe deficiency of IgM. Clinically the defect is manifested by difficulty in containing both bacterial and viral infections. Infections by encapsulated extracellular pathogens such as pneumococcus are frequent. Septicemia is common in patients with IgM deficiency. IgM predominates during a primary antibody response. In this disorder antibody response to primary immunization is defective. {1:Record et al. (1973)} described intrahepatic sclerosing cholangitis in a girl with this disorder and probably in two others. The mother had died of septicemia following a hysterectomy at age 43 and a maternal aunt had died of fulminant hepatitis at age 21." +242860,"Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients that is explained by mutations in the DNMT3B gene in some, but not all, ICF patients ({11:Hagleitner et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome\n\nSee also ICF2 ({614069}), caused by mutation in the ZBTB24 gene ({614064}) on chromosome 6q21; ICF3 ({616910}), caused by mutation in the CDCA7 gene ({609937}) on chromosome 2q31; and ICF4 ({616911}), caused by mutation in the HELLS gene ({603946}) on chromosome 10q23." +242870,"{2:Schuurman et al. (1979)} described a brother and sister (in a family from an isolated Turkish village) with multiple pyogenic infections and persistent candidiasis. Although B-lymphocytes were present, plasma cell differentiation was deficient and severe hypogammaglobulinemia was found. T-lymphocytes were decreased in number and did not respond to antigens, but did proliferate in cultures with lectins and allogeneic cells. HLA-A, HLA-B and HLA-C determinants were not detected on blood lymphocytes, but they were expressed by cultured lymphoblasts and fibroblasts and were present in serum. Beta-2-microglobulin ({109700}) was not found in cross-sectioned T-cell membranes. B-lymphocytes carried normal B2M. Chromosome 6 was grossly normal in karyotypes. Other gene products coded by chromosome 6 (C2, C4, Chido, Rodgers, Factor B, PGM3 and glyoxalase) were normal. B2M is required for expression of HLA-A and HLA-B determinants on lymphocytes ({1:Arce-Gomez et al., 1978}). The authors suggested that the patients have an immunologically undetectable structural defect in B2M or a membrane defect, leading, in either case, to defective 'anchorage' of B2M on the T-cell membrane. The findings indicate the interrelationship between lymphocyte differentiation and HLA determinants and B2M on lymphocyte membranes. {3:Touraine et al. (1978)} reported a strikingly similar case in an Algerian infant with consanguineous parents. HLA typing showed that a healthy sib had the same genotype as the patient. Thus, the genetic defect cannot be linked to the major histocompatibility complex." +242880,"{1:Linsk et al. (1975)} described a sibship, offspring of Sicilian first cousins, in which 4 of 6 sibs in early adulthood developed a clinical disorder in the hematopoietic and immunoglobulin-producing systems. A female sib died at age 21 years with myeloid aplasia. A male sib presented at age 17 with erythroid and plasma cell aplasia with hypogammaglobulinemia. Two other female sibs, aged 21 and 35, had a lymphoproliferative disorder associated with hypogammaglobulinemia. Two affected sibs had absence of leukocyte alkaline phosphatase. Electron microscopy of the peripheral leukocytes from 2 of the affected sibs and 1 of the asymptomatic sibs showed curious intranuclear and intracytoplasmic linear 'crystalloid' structures." +242890,{1:Dunnette et al. (1978)} suggested autosomal recessive inheritance of low IgD level in plasma. They had previously shown that the distribution of the log of IgD levels in a population sample is not unimodal (13-14% of persons have a low level). A family study was then done on persons with low IgD and the above conclusion arrived at from analysis of the data. +243000,"Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by {7:Cox et al., 2006}; and {16:Goldberg et al., 2012}).\n\nHereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by {26:Yuan et al., 2013}).\n\nFor a discussion of genetic heterogeneity of HSAN, see HSAN1 ({162400})." +243060,"Spermatogenic failure-5 (SPGF5) is a form of male infertility associated with large-headed, multiflagellar, polyploid spermatozoa ({5:Dieterich et al., 2007}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +243080,{1:Virelizier et al. (1978)} described a 19-month-old boy with progressive vaccinia and a profound deficiency of cellular immunity. Inosine phosphorylase activity in red blood cells was deficient. +243100,"{1:Austin and Stears (1971)} reported hypoplasia of both internal carotid arteries in 2 and possibly 3 brothers from a sibship of 11. Symptoms began at ages 18, 30 and 33 years and were attributable to cerebral ischemia. One became demented." +243150,"Gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency ({22:Samuels et al., 2013}; {2:Avitzur et al., 2014}; {14:Lemoine et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of GIDID\n\nSee also GIDID2 ({619708}), caused by mutation in the PI4KA gene ({600286}) on chromosome 22q11." +243180,"Autosomal recessive familial visceral neuropathy-1 (VSCN1) is characterized by a broad spectrum of developmental anomalies associating neural crest and extraneural crest features, including intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Some patients develop progressive peripheral neuropathy, and arthrogryposis has been observed. Hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, as well as microtia or anotia, have been reported. Patients also exhibit facial dysmorphisms, including microretrognathia in most; other variable features include structural cardiac anomalies and arthrogryposis with multiple pterygia ({3:Le et al., 2021}).\n\n<Subhead> Genetic Heterogeneity of Familial Visceral Neuropathy\n\nAutosomal recessive familial visceral neuropathy-2 (VSCN2; {619465}) is caused by mutation in the ERBB2 gene ({164870}) on chromosome 17q12. Also see VSCN3 ({609629}) for an autosomal dominant form of the disorder." +243185,"{1:Harris et al. (1976)} described 2 male sibs with mandibular teeth present at birth, patent ductus arteriosus (see {607411}), and intestinal pseudoobstruction evident from birth. Vomiting of bile stain material began soon after birth, and there was no passage of meconium. The older brother died at 5 months of age despite 2 gastrointestinal operations and ligation of the patent ductus arteriosus which had led to cardiac failure. The younger brother died at the age of 6 weeks. Either autosomal or X-linked recessive inheritance is possible." +243200,"{1:Buchheit et al. (1969)} described 2 sisters with idiopathic intracranial hypertension with papilledema (pseudotumor cerebri). {6:Traviesa et al. (1976)} described 3 affected sisters. The patients are typically young females who are obese and may be pregnant or suffering from chronic dysfunctional uterine bleeding. {3:Johnston and Morgan (1991)} described a mother and 2 of 4 daughters who had a diagnosis of pseudotumor cerebri and 1 son who developed communicating hydrocephalus.\n\n{7:Warner et al. (2002)} quantified vitamin A in the cerebrospinal fluid of patients with idiopathic intracranial hypertension, elevated intracranial pressure of other causes, and normal intracranial pressure. Vitamin A could be detected by high-pressure liquid chromatography in most of the specimens. There was a significantly higher level of vitamin A in the cerebrospinal fluid of some patients with idiopathic intracranial hypertension. The authors concluded that vitamin A toxicity might play a role in the pathogenesis of idiopathic intracranial hypertension.\n\n{4:Katz et al. (2002)} demonstrated the presence of both somatostatin receptor types 1 ({182451}) and 2 ({182452}) in all samples of normal human choroid plexus and arachnoid granulations. The authors proposed that these receptors might be involved in the processes of cerebrospinal fluid production and absorption and, thus, might play a role in the increased intracranial pressure of idiopathic intracranial hypertension." +243300,"Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months ({15:Summerskill and Walshe, 1959}; {13:Schapiro and Isselbacher, 1963}; {3:Brenard et al., 1989}).\n\n{18:Tygstrup et al. (1999)} stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.'\n\n<Subhead> Genetic Heterogeneity of Benign Recurrent Intrahepatic Cholestasis\n\nSee also BRIC2 ({605479}), caused by mutation in the ABCB11 gene ({603201}) on chromosome 2q24." +243310,"BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by {21:Verloes et al., 2015}). {5:Di Donato et al. (2014)} and {21:Verloes et al. (2015)} suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by {3:Cuvertino et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Baraitser-Winter Syndrome\n\nBaraitser-Winter syndrome-2 (BRWS2; {614583}) is caused by heterozygous mutation in the ACTG1 gene ({102560}) on chromosome 17q25." +243320,"In the 14.5-year-old son of a first-cousin Algerian couple, {1:Zittoun et al. (1988)} identified deficiency of both intrinsic factor and R binder. Separate deficiencies are well described (see {261000} and {193090}, respectively). The boy presented with severe megaloblastic anemia, growth retardation, and neurologic dysfunction with typical features of subacute combined degeneration of the spinal cord. The anemia responded completely to cyanocobalamin and folic acid. Intrinsic factor was absent from gastric juice, but acid secretion and gastric mucosa were normal. R binders were absent from gastric juice as well as from serum, saliva, and polymorphonuclear leukocytes." +243440,"Multiple congenital anomalies, prominently including malformations of the head and face (small, malformed, or missing ears, micrognathia, and cleft palate), heart (particularly conotruncal defects and aortic arch anomalies), and central nervous system (especially hydrocephalus and posterior fossa abnormalities), result from maternal use of isotretinoin, a vitamin A analog for treatment of acne ({1:Benke, 1984}; {2:Braun et al., 1984}; {8:Lott et al., 1984}; {7:Lammer et al., 1985}). The associated anomalies are also consistent with those described for excessive maternal vitamin A use. {6:Kawashima et al. (1987)} described 3 male sibs with findings consistent with isotretinoin embryopathy; each had malformations of the ears and an interrupted aortic arch. The mother of the patients, however, had no prenatal history of exposure to isotretinoin, and her diet was not unusual. The patients had normal lymphocytes and serum calcium values, making the diagnosis of DiGeorge syndrome ({188400}) untenable.\n\n{5:Guion-Almeida et al. (2000)} described a Brazilian boy with the same abnormalities as those described by {6:Kawashima et al. (1987)}, although middle and inner ear defects were also present. {4:Guion-Almeida and Kokitsu-Nakata (2003)} described a single case. Their patient had a complex heart defect, and computed tomography of the temporal bone showed agenesis of the external auditory canal on the left and ossicular chain abnormalities bilaterally. All 5 reported cases have been in males, and parental consanguinity was not described in any. All 5 patients died before the second year of life.\n\n{3:Derbent et al. (2005)} reported a male patient with right microtia, atresia of the external auditory canal, growth retardation, a complex heart defect, and extra-lobar pulmonary sequestration. The cardiac anomalies were persistent left superior vena cava, aortic stenosis, bicuspid aortic valves and subaortic membrane. Spinal films revealed complete fusion of the C2-C3 and C5-C6 vertebrae, and scoliosis of the lumbar spine. The patient's mental development was normal, and there were no abnormalities on ophthalmologic examination. {3:Derbent et al. (2005)} suggested that their patient and 5 previously reported patients ({6:Kawashima et al., 1987}; {5:Guion-Almeida et al., 2000}; {4:Guion-Almeida and Kokitsu-Nakata, 2003}) had a variant of the oculoauriculovertebral spectrum, with the cardinal features of microtia, atresia of the external auditory canal, complex cardiac defects, growth retardation, normal mental and motor development in most cases, and vertebral anomalies. Because all 6 patients were male, {3:Derbent et al. (2005)} raised the possibility of X-linked inheritance." +243450,"About 1.4% of Caucasians and 9.1% of blacks cannot smell the sweaty odor of isovaleric acid. Isovaleric anosmia is described in mice ({4:Wysocki et al., 1977}).\n\nThe detection and discrimination of odorants in mammals is thought to be mediated by a family of 100 to 1,000 seven-transmembrane domain receptor proteins. {2:Griff and Reed (1995)} used a genetic approach to identify the genomic regions responsible for the differential ability of 2 inbred mouse strains to detect the odorant isovaleric acid. Results obtained with a behavioral assay were consistent with a limited number of genes conferring the ability to detect isovaleric acid. One genetic locus mapped to a 0.3 cM region between D4MIT37 and D4MIT156 on mouse chromosome 4. A second locus mapped to the distal end of mouse chromosome 6. The most likely cause of the behavior difference between the 2 strains of mice is the loss of the receptor protein or proteins responsible for recognizing isovaleric acid." +243500,"Isovaleric acidemia is an inborn error of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase. It can present with severe neonatal ketoacidosis leading to death, but in milder cases recurrent episodes of ketoacidosis of varying degree occur later in infancy and childhood (summary by {21:Vockley et al., 1991})." +243600,"Jejunal atresia is the most common cause of bowel obstruction in the newborn. In this condition, because of agenesis of the mesentery, the distal small bowel comes straight off the caecum and twists around the marginal artery, suggesting a maypole, a Christmas tree, or an apple peel at operation. Obliteration of the superior mesenteric artery may underlie this malformation." +243605,"Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by {2:Filges et al., 2016})." +243700,"Autosomal dominant hyper-IgE recurrent infection syndrome-1 (HIES1; {147060}) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition ({1:Buckley et al., 1972}; {2:Grimbacher et al., 1999}).\n\nAutosomal recessive HIES2 shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES1 by the lack of connective tissue and skeletal involvement ({5:Renner et al., 2004}).\n\nSee also TYK2 deficiency ({611521}), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; {209950}) ({4:Minegishi et al., 2006}).\n\nFor a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see {147060}." +243800,"Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by {1:Al-Dosari et al., 2008})." +243910,"Arima syndrome is an autosomal recessive disorder characterized by agenesis of the cerebellar vermis, ocular abnormalities, cystic kidney disease, and, in some cases, liver disease. It shares phenotypic features with Joubert syndrome (see {213300}), COACH syndrome (see {216360}), and familial juvenile nephronophthisis (see {256100})." +244200,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {4:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}." +244400,"Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus ({270100}), and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus ({5:Afzelius, 1976}; {30:El Zein et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Primary Ciliary Dyskinesia\n\nOther forms of primary ciliary dyskinesia include CILD2 ({606763}), caused by mutation in the DNAAF3 gene ({614566}) on 19q13; CILD3 ({608644}), caused by mutation in the DNAH5 gene ({603335}) on 5p15; CILD4 ({608646}), mapped to 15q13; CILD5 ({608647}), caused by mutation in the HYDIN gene ({610812}) on 16q22; CILD6 ({610852}), caused by mutation in the TXNDC3 gene ({607421}) on 7p14; CILD7 ({611884}), caused by mutation in the DNAH11 gene ({603339}) on 7p15; CILD8 ({612274}), mapped to 15q24-q25; CILD9 ({612444}), caused by mutation in the DNAI2 gene ({605483}) on 17q25; CILD10 ({612518}), caused by mutation in the DNAAF2 gene ({612517}) on 14q21; CILD11 ({612649}), caused by mutation in the RSPH4A gene ({612647}) on 6q22; CILD12 ({612650}), caused by mutation in the RSPH9 gene ({612648}) on 6p21; CILD13 ({613193}), caused by mutation in the DNAAF1 gene ({613190}) on 16q24; CILD14 ({613807}), caused by mutation in the CCDC39 gene ({613798}) gene on 3q26; CILD15 ({613808}), caused by mutation in the CCDC40 gene ({613799}) on 17q25; CILD16 ({614017}), caused by mutation in the DNAL1 gene ({610062}) on 14q24; CILD17 ({614679}), caused by mutation in the CCDC103 gene ({614677}) on 17q21; CILD18 ({614874}), caused by mutation in the DNAAF5 gene ({614864}) on 7p22; CILD19 ({614935}), caused by mutation in the LRRC6 gene ({614930}) on 8q24; CILD20 ({615067}), caused by mutation in the CCDC114 gene ({615038}) on 19q13; CILD21 ({615294}), caused by mutation in the DRC1 gene ({615288}) on 2p23; CILD22 ({615444}), caused by mutation in the ZMYND10 gene ({607070}) on 3p21; CILD23 ({615451}), caused by mutation in the ARMC4 gene ({615408}) on 10p; CILD24 ({615481}), caused by mutation in the RSPH1 gene ({609314}) on 21q22; CILD25 ({615482}), caused by mutation in the DYX1C1 gene ({608706}) on 15q21; CILD26 ({615500}), caused by mutation in the C21ORF59 gene ({615494}) on 21q22; CILD27 ({615504}), caused by mutation in the CCDC65 gene ({611088}) on 12q13; CILD28 ({615505}), caused by mutation in the SPAG1 gene ({603395}) on 8q22; CILD29 ({615872}), caused by mutation in the CCNO gene ({607752}) on 5q11; CILD30 ({616037}), caused by mutation in the CCDC151 gene ({615956}) on 19p13; CILD32 ({616481}), caused by mutation in the RSPH3 gene ({615876}) on 6q25; CILD33 ({616726}), caused by mutation in the GAS8 gene ({605178}) on 16q24; CILD34 ({617091}), caused by mutation in the DNAJB13 gene ({610263}) on 11q13; CILD35 ({617092}), caused by mutation in the TTC25 gene ({617095}) on 17q21; CILD36 ({300991}), caused by mutation in the PIH1D3 gene ({300933}) on Xq22; CILD37 ({617577}), caused by mutation in the DNAH1 gene ({603332}) on 3p21; CILD38 ({618063}), caused by mutation in the CFAP300 gene ({618058}) on 11q22; CILD39 ({618254}), caused by mutation in the LRRC56 gene ({618227}) on 11p15; CILD40 ({618300}), caused by mutation in the DNAH9 gene ({603330}) on 17p12; CILD41 ({618449}), caused by mutation in the GAS2L2 gene ({611398}) on 17q12; CILD42 ({618695}), caused by mutation in the MCIDAS gene ({614086}) on 5q11; CILD43 ({618699}), caused by mutation in the FOXJ1 gene ({602291}) on 17q25; CILD44 ({618781}), caused by mutation in the NEK10 gene ({618726}) on 3p24; CILD45 ({618801}), caused by mutation in the TTC12 gene ({610732}) on 11q23; CILD46 ({619436}), caused by mutation in the STK36 gene ({607652}) on 2q35; and CILD47 ({619466}), caused by mutation in the TP73 gene ({601990}) on 1p36.\n\nCiliary abnormalities have also been reported in association with both X-linked and autosomal forms of retinitis pigmentosa. Mutations in the RPGR gene ({312610}), which underlie X-linked retinitis pigmentosa (RP3; {300029}), are in some instances (e.g., {312610.0016}) associated with recurrent respiratory infections indistinguishable from immotile cilia syndrome; see {300455}.\n\n{7:Afzelius (1979)} gave an extensive review of cilia and their disorders. There are also several possibly distinct CILDs described based on the electron microscopic appearance of abnormal cilia, including CILD with transposition of the microtubules ({215520}), CILD with excessively long cilia ({242680}), and CILD with defective radial spokes ({242670})." +244450,"Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by distinct craniofacial features, hypotonia, failure to thrive, eye abnormalities, other congenital malformations, low cholesterol levels, and severe intellectual disability (summary by {2:Basel-Vanagaite et al., 2014})." +244510,"In 2 sisters born of a first-cousin marriage, {1:Nucci and Brancato (1991)} identified keratoconus and bilateral congenital hip dysplasia." +244600,"{1:Haney and Falls (1961)} described affected brother and sister with associated manifestations in the form of retarded mental and physical growth, hypertelorism, corneal nebulae, short 'bull neck,' and stubby limbs and digits. They quoted the following description of the corneal lesion: '...the appearance one might expect if into the posterior surface of a plastic cornea one had excavated a subsidiary small basin-like depression by pressing into it a marble of much smaller curvature than that of the corneal surface itself.' The parents denied consanguinity. Curiously, the authors suggested autosomal dominant inheritance with poor penetrance. It is true that {2:Jacobs (1957)} reported keratoconus posticus in father and son. He made no mention of associated manifestations. Although they stated that they had 'been unable to trace any former reports of an identical condition,' {3:Young et al. (1982)} seem to have observed a brother and sister with the same disorder as that reported by {1:Haney and Falls (1961)}. The brother was 20 and the sister 14 years of age at the time of report. At birth, bilateral cleft lip and cleft palate and bilateral central posterior corneal opacities were noted; the lenses, which were clear, appeared to lie in juxtaposition to the posterior surface of the cornea. Both had a short webbed neck, limitation of extension and supination of the elbows, and brachydactyly, with fifth finger clinodactyly. Both had had bilateral heel cord lengthening and the sister had frequent urinary tract infections and radiographically proven bilateral ureteric reflux. Both had multiple errors of segmentation and fusion in the thoracic vertebrae. Chromosomes were normal in the sibs; the mother had a triple-X karyotype 'in all cells analysed.' {3:Young et al. (1982)} considered this coincidental." +244850,"For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK ({144200})." +245000,"Papillion-Lefevre syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, periodontitis, and premature loss of dentition (summary by {16:Lefevre et al., 2001})." +245010,"Haim-Munk syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, severe periodonitis, arachnodactyly, acroosteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers (summary by {4:Hart et al., 2000})." +245050,"Ketone bodies are major vectors of energy transfer from the liver to extrahepatic tissues and are the main source of lipid-derived energy for the brain. {8:Mitchell et al. (1995)} reviewed medical aspects of ketone body metabolism, including the differential diagnosis of abnormalities. As the first step of ketone body utilization, succinyl-CoA:3-oxoacid CoA transferase (SCOT, or OXCT1; {EC 2.8.3.5}) catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate." +245150,"Keutel syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by {6:Khosroshahi et al., 2014})." +245180,"{1:Jilek-Aall et al. (1979)} studied a seizure disorder called kifafa in an isolated tribe in the interior of Tanzania. About 200 cases were found among 10,000 persons. The disorder often led to severe burns in those afflicted. Many showed parkinsonian features and-or other neurologic abnormalities, as well as mental retardation and transient psychotic episodes. In children, head nodding was a frequent precursor of later grand mal seizures. Familial incidence was high; segregation analysis supported autosomal recessive inheritance. {2:Jilek-Aall and Rwiza (1992)} provided a 30-year follow-up. A prevalence of the disorder in the range of 19/1,000-36/1,000 with a mean age at onset of 11.6 years was found. {3:Neuman et al. (1995)} collected family data on 26 probands in 20 kifafa families. Of the 127 affected persons in these pedigrees, 23 were first-degree relatives of the 26 probands; 20 were second-degree relatives. When corrected for age, the risk to first degree relatives was 0.15; the risk to second degree relatives was 0.063. Among the mendelian single-locus models, an additive model was favored over either a dominant, recessive, or codominant model. The single-locus model could be rejected when compared with the mixed mendelian model (inclusion of a polygenic background), although the major-gene component tends to be recessive. However, the hypothesis of mendelian transmission could be rejected, suggesting that, although kifafa aggregates in these families, the mode of inheritance is genetically complex." +245200,"Krabbe disease (KRB) is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay ({63:Wenger et al., 2000}). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by {52:Tappino et al., 2010})." +245300,"Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by {16:Wadsworth et al., 2008})." +245400,"Mitochondrial DNA depletion syndrome-9 is a severe autosomal recessive disorder characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. Some patients die in early infancy (summary by {10:Rouzier et al., 2010}).\n\nFor a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 ({603041})." +245450,"D-lactic aciduria is characterized by elevated D-lactate in plasma and urine. Patients show elevated serum uric acid concentrations and low urinary uric acid levels, due to reduced renal clearance of uric acid, and affected adults may experience episodes of gouty arthropathy ({1:Drabkin et al., 2019}).\n\nFor a discussion of genetic heterogeneity of serum uric acid concentration quantitative trait loci, see UAQTL1 ({138900})." +245550,"{1,2:Lambert et al. (1982, 1990)} observed 4 sibs with branchial dysplasia, mental deficiency, clubfoot, inguinal hernia, and cholestasis due to paucity of interlobular bile ducts. Facial and ear anomalies included malar hypoplasia, macrostomia, preauricular tags, and meatal atresia. Clubfoot was present in 3 of the 4 affected sibs and hypospadias in at least 2 of the 3 affected boys. The parents were first cousins. Both were in their twenties. A distant cousin died from jaundice in the neonatal period. Liver biopsy after death showed complete intrahepatic biliary atresia. Although this syndrome has many similarities to Alagille syndrome (see {118450}), an autosomal dominant, it is probably distinct." +245570,"Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by {9:Lesca et al., 2013}; {8:Lemke et al., 2013}; {2:Carvill et al., 2013}).\n\nThe disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by {14:Stefanatos, 2011})." +245590,"Autosomal recessive growth hormone insensitivity syndrome with immune dysregulation-1 (GHISID1) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; {139250}). Affected individuals usually have failure to thrive, delayed bone age, and delayed puberty associated with decreased serum IGF1 ({147440}), IGFBP3 ({146732}), and ALS ({601489}). Some patients may have dysmorphic features. Most, but not all, patients have features of immune dysregulation, including chronic pulmonary disease, interstitial pneumonitis, recurrent or severe infections, eczema, and autoimmune arthritis. The immune features are highly variable (summary by {7:Kofoed et al., 2003}; {10:Vidarsdottir et al., 2006}).\n\nSee {262500} for a form of growth hormone insensitivity caused by mutation in the growth hormone receptor gene (GHR; {600946})." +245650,"{1:Chen et al. (1982)} reported 2 isolated cases of a lethal, Larsen-like multiple joint dislocation syndrome. Death occurred shortly after birth with pulmonary insufficiency due to tracheomalacia and/or lung hypoplasia. Both patients showed abnormal dermal collagen bundles. Histochemical and electron microscopy showed abnormalities of cartilage matrix, collagen bundles of joint capsules and hyaline cartilage of the trachea. The authors characterized the defect as 'collagen fiber dysmaturity.' {2:Clayton-Smith and Donnai (1988)} reported a patient. {3:Mostello et al. (1991)} provided the first evidence of recessive inheritance of the lethal variant of Larsen syndrome. It is not certain, of course, that this disorder is produced by mutation in a gene distinct from that of the recessive form ({245600}) or, for that matter, that of the dominant form ({150250}) of Larsen syndrome. {3:Mostello et al. (1991)} diagnosed the disorder prenatally in a male fetus who by ultrasonography showed persistent genu recurvatum and probably other joint dislocations. The infant was delivered by Cesarean section at 37 weeks' gestation and died on the eighth day. A previously born male child, delivered at 39 weeks' gestation, had similar features (flat facies and multiple dislocations, especially anterior dislocation of the knees) and died at 24 hours of age. Both infants had severe pulmonary hypoplasia. Abnormal palmar creases and laryngotracheomalacia, features seen in patients with Larsen syndrome who survive, were observed in these lethal cases.\n\n{4:Yamaguchi et al. (1996)} described neuropathologic evidence of a disturbance of neuroblast migration in a 3.5-year-old girl with a Larsen-like syndrome who manifested unusually severe neurologic signs that included intractable partial seizures, tetraplegia, and psychomotor retardation. The patient died of acute bronchiopneumonia. Neuropathologic findings included bilateral perisylvian cortical dysgenesis, protrusions of the brain parenchyma into the subarachnoid space (brain warts), abnormal arrangement of neurons in the inferior olive, and dilatation of the lateral ventricles with multiple glial nodules. The authors speculated that the brain dysplasia, which had been described in previous Laresen-like syndrome cases (e.g., {2:Clayton-Smith and Donnai, 1988}, {1:Chen et al. (1982)}), may have been the result of systemic hypoxic-ischemic insults during the second half of gestation, but they did not rule out genetic factors." +245800,"Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome ({275400}), including chorioretinopathy and pituitary dysfunction, but with childhood onset of ataxia, peripheral neuropathy, and spastic paraplegia and without trichomegaly. Historically, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome (see BBS, {209900}) (summary by {4:Hufnagel et al., 2015}).\n\nOliver-McFarlane syndrome is an allelic disorder." +245900,"Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure." +246400,"{2:Christie et al. (1954)} described the disease in sibs who were never in contact, thus tending to discredit an infectious hypothesis. {14:Rogers and Benson (1962)} reported affected sibs and reviewed the literature. {6:Falk and Gellei (1963)} also observed a family. {15:Schoeck et al. (1963)} described 2 sibs with L-S disease. Ten other families with multiple affected sibs were reviewed, including Farquhar 'familial hemophagocytic reticulosis' ({267700}) and Nelson 'generalized lymphohistiocytic infiltration' (also see {267700}), which Schoeck et al. suggested are all the same entity. In a survey of deaths from Letterer-Siwe disease in a 5-year period in the U.S., {9:Glass and Miller (1968)} found 5 sib pairs among 270 deaths, a pair of concordant like-sex twins, and a peak of mortality under 1 year of age. {7:Freundlich et al. (1972)} reported 2 families with multiple cases of consanguineous parents. {10:Hirsch and Kong (1973)} reported a father and son with histiocytosis X of the lung. The father presented with cough and exertional dyspnea, whereas the son was asymptomatic. Biopsies confirmed histiocytosis X (eosinophilic granuloma) in both. Neither father nor son had any evidence of disseminated histiocytosis. I have information from {3:Cook (1967)} concerning 8 cases of histiocytosis X occurring in 2 sibships in an inbred Mennonite group in Waterloo County, Ontario. In each case the parents were related as second cousins and all 4 parents shared in common a grandparental couple. In 2 cases, treatment with adrenocorticosteroids was begun early and both patients survived. The other cases pursued an identical course. They were well until ages 8 to 18 weeks, following which they developed general irritability, especially on being touched or moved. There was pallor, dyspnea, distended abdomen, fever, and, in the terminal stages, usually jaundice. Medical investigations showed hepatosplenomegaly, anemia, neutropenia, and thrombocytopenia. Autopsy showed histiocytic infiltration of the liver, spleen and lymph nodes. There was no persistent skin rash and no bone lesions were identified. The course of the illness in all 6 fatal cases was rapid, ranging from 2 to 5 weeks. None of the children had contact with each other. These cases are also discussed under familial histiocytic reticulosis ({267700}). The nosology of this category is confused, as is the terminology. For example, {4:Donohue and Thompson (1972)} concluded that the Mennonite cases represent the disorder reported as 'familial Letterer-Siwe disease' and not histiocytosis X. The occurrence of 'encephalopathy' in both the Mennonite cases and reported familial Letterer-Siwe disease, but not in either nonfamilial L-S disease or histiocytosis X, was one reason for their conclusion. {12:Kloepfer et al. (1972)} observed the same or a similar disorder in an inbred triracial group in Louisiana, known locally as 'Redbones.'\n\nThe entity described here should not be confused with Langerhans cell histiocytosis ({604856}) The Langerhans cell, a dendritic cell of the epidermis, was described by a medical student, Paul Langerhans, who thought that it was part of the nervous system ({13:Langerhans, 1868}). {1:Birbeck et al. (1961)} found that the Langerhans cell displays a unique electron-microscopic morphology. The discoveries that these cells are not confined to skin and that they make up a sizable portion of the cellular infiltrate in histiocytosis X, along with other evidence, suggest that they play an immunologic role in protecting against environmental antigens. {5:Egeler and D'Angio (1995)} presented a classification of histiocytosis syndromes in children: class I, Langerhans cell histiocytosis; class II, histiocytosis of mononuclear macrophages other than Langerhans cells, including familial hemophagocytic lymphohistiocytosis; and class III, malignant histiocytic disorders, including histiocytic lymphoma." +246450,"3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is a rare autosomal recessive disorder with the cardinal manifestations of metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids. Urinary levels of 3-methylcrotonylglycine may be increased. Dicarboxylic aciduria, hepatomegaly, and hyperammonemia may also be observed. Presenting clinical signs include irritability, lethargy, coma, and vomiting (summary by {6:Gibson et al., 1988})." +246470,"In an Italian-American family with first-cousin parents, {1:Greenberg et al. (1981)} described 2 brothers, in a sibship of 5, who had this combination. In 1, colectomy with ileoproctostomy was performed for multiple adenomatous polyps of the colon at age 35. Because of multiple polyps and adenocarcinoma in situ in the residual rectum, abdominoperineal resection and ileostomy were done at age 40. Leukemia of acute myeloblastic type was discovered at age 45 and the patient died after a 2-month course. The second brother had fulguration of 2 papillary tumors of the bladder at age 25. In the next 3 years, he had multiple colonic polypectomies and abdominoperineal resection for Duke's stage C-1 carcinoma of the rectum. At age 34 he was discovered to have acute myeloblastic leukemia and died after a very short course." +246500,"In the family reported by {1:Berlin (1961)}, 2 males and 2 females were affected out of 12 offspring of a cousin marriage. The condition in some ways resembles Naegeli syndrome ({161000}), but clearly is distinguished by its mode of inheritance." +246555,"{1:Jancar (1967)} reported the case of a 19-year-old man with ectrodactyly, mental retardation, and spastic paraplegia. {2:Zlotogora (1987)} described the combination in a 3-year-old child. {3:Zlotogora and Glick (1993)} reported a third case in an offspring of healthy Moslem Arabs who were first cousins. They raised the possibility of autosomal recessive inheritance because the parents of 2 of the patients were first cousins and the sister of patient 2 may also have been affected. However, the second and third families originated from communities in which consanguineous marriages are the rule and not the exception." +246560,"Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM3 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting ({6:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 ({183600})." +246570,"FATCO syndrome comprises fibular aplasia, tibial campomelia, and oligosyndactyly ({2:Courtens et al., 2005}).\n\nSee also ectrodactyly (split-hand/foot malformation) associated with fibular hypoplasia/aplasia ({113310})." +246700,"Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy ({5:Dannoura et al., 1999})." +246900,"DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by {5:Hong et al., 1996}). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD; {248600}), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects ({3:Chuang and Shih, 2001}; {11:Robinson, 2001})." +247100,"Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by {13:Hamada et al., 2002} and {14:Hamada et al., 2003})." +247150,"Like fingerprints, lip prints can be shown to be genetically determined to a significant extent ({2:Hirth et al., 1975}). Although the genetics is multifactorial, the possibility of identifying the effects of some single genes has not been excluded." +247200,"Features of the Miller-Dieker syndrome include classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities. Life expectancy is grossly reduced, with death most often occurring during early childhood (summary by {39:Schinzel, 1988}).\n\nLissencephaly means 'smooth brain,' i.e., brain without convolutions or gyri.\n\nDeletion of or mutation in the LIS1 gene (PAFAH1B1; {601545}) appears to cause the lissencephaly because point mutations have been identified in this gene in isolated lissencephaly sequence (ILS; see {607432}). Facial dysmorphism and other anomalies in Miller-Dieker patients appear to be the consequence of deletion of additional genes distal to LIS1. {45:Toyo-oka et al. (2003)} presented evidence that the gene whose deletion is responsible for the greater severity of Miller-Dieker syndrome compared to isolated lissencephaly is the gene encoding 14-3-3-epsilon (YWHAE; {605066})." +247410,"{1:Dahlberg et al. (1983)} described 2 adult brothers with congenital lymphedema, hypoparathyroidism, nephropathy, mitral valve prolapse and brachytelephalangy. The older sib was found to have bilateral cataracts on routine examination at age 19 years. Swelling of his arms and legs, noted soon after his birth, increased after he began walking. Progressive renal failure necessitated renal transplantation at age 26 years. The brother had similar findings. Both have a broad nasal bridge and lateral displacement of the inner canthi. Pulmonary lymphangiectasia (see {265300}) was suspected on the basis of radiologic findings. The mode of inheritance is not clear but includes autosomal recessive and X-linked recessive inheritance." +247430,"In cases of mucocutaneous candidiasis, {1:Paterson et al. (1971)} found that the patients' plasma inhibited the in vitro proliferative response of their own lymphocytes to various antigens." +247450,"In a patient with chronic mucocutaneous candidiasis, {1:Buckley et al. (1968)} found a decrease in the number of lymphocytes capable of transformation in response to in vitro phytohemagglutinin stimulation." +247610,"Lymphoid interstitial pneumonia is a rare pulmonary disease, occurring mainly in children. {1:O'Brodovich et al. (1980)} reported LIP in 2 brothers, the first and sixth born of 9 sibs from unrelated parents. In the older brother, digital clubbing was noted at age 3 years. Diagnosis was made at age 9. Death from right-sided heart failure occurred at age 12. The younger, aged 13 at the time of report, was living and able to work on the family farm in Manitoba. He also had mild aortic stenosis for which valvulotomy was performed." +247640,"Patients with acute lymphoblastic leukemia (ALL) who present with bulky disease of the lymph nodes, spleen, and mediastinum, so-called lymphomatous ALL (LALL), appear clinically to represent a distinct category of ALL of T-cell lineage. The biologic basis of this distinction was pointed out by {1:Chilcote et al. (1985)} who found that 6 of 8 patients with clinical features of LALL had karyotypic abnormalities leading to loss of bands 9p22-p21. The mechanisms varied and included deletions, unbalanced translocations, and loss of the entire chromosome. Only 1 of 57 patients without LALL had an abnormality of chromosome 9 at diagnosis. Loss of a 'suppressor' gene (RB1; {614041}) comparable to that in retinoblastoma ({180200}) was postulated. A relationship to methylthioadenosine phosphorylase ({156540}) was postulated because the structural gene for this enzyme maps to the same region and patients with LALL may lack this enzyme in malignant cells during relapse. Lymphoblasts lacking this enzyme are unable to salvage adenine and methionine and are therefore especially sensitive to inhibitors of de novo purine synthesis ({2:Kamatani et al., 1981}). {3:Kowalczyk and Sandberg (1981)} had earlier found changes in 9p in a subgroup of ALL cases. {1:Chilcote et al. (1985)} pointed out that there is a fragile site at 9p21 and raised the question of familial predisposition on this basis. (This fragile site is the breakpoint in the translocation t(9;11)(p21-22;q23), which is associated with acute nonlymphocytic leukemia with monocytic features, ANLL-AMoL-M5a.) The aunt of one of the patients of {1:Chilcote et al. (1985)} had died as a child from ALL with lymphomatous features. If the analogy to RB1 holds, there is the same dilemma as to whether this should be called dominant or recessive; by the Chilcote hypothesis, it is presumably recessive. In a large series, {4:Murphy et al. (1985)} confirmed an abnormality of 9p in 10 to 11% of cases (33 out of more than 300) of acute lymphoblastic leukemia. The breakpoints in 9p clustered in the p22-p21 region. They could not, however, corroborate the specific association with T-cell origin or so-called lymphomatous clinical features.\n\n(Although to our knowledge not the determinant of an inherited phenotype, dominant or recessive, LALL appears to be a specific DNA coding segment that is involved in causation of a specific neoplasm through somatic cell mutation.)" +247650,"Chronic mucocutaneous candidiasis can have many causes, e.g., (1) failure of lymphocytes to transform in response to antigen, either because of an intrinsic defect ({247450}) or because of an inhibiting serum factor ({247430}); (2) failure of production of lymphokine; or (3) unresponsiveness of monocytes to lymphokine ({252250}). Deficient production of lymphokine despite normal lymphoblastic transformation was demonstrated by {1:Lehner et al. (1972)}." +247800,"{1:Schaller et al. (1966)} described an infant with these features plus marked lymphoid hypoplasia, absence of lymphoid elements and Hassall corpuscles from thymus, and plasmocytosis. She died at 6 months of age with pneumocystis carinii pneumonia. Two sibs succumbed apparently from the same ailment." +247950,"In a 21-month-old Japanese girl with physical and mental retardation, {1:Omura et al. (1976)} found excessive lysine in the urine, low lysine in the serum, and impaired intestinal absorption of lysine. They postulated a specific defect in lysine transport in the intestine and renal tubule. No information on the family was recorded." +247990,"{1:MacDermot and Winter (1989)} described a seemingly 'new' syndrome with facial anomalies, microcephaly, hypoplastic genitalia, and failure of psychomotor development. The 2 brothers were from a consanguineous Moslem family. They showed prenatal onset of growth deficiency and had convulsions from birth. Atypical anomalies consisted of a prominent glabella, arched eyebrows, a low upswept frontal hairline, large posteriorly rotated ears with overfolded upper helices, partial camptodactyly, and wide-spaced nipples. Death occurred at 21 days and 7 months, respectively. Postmortem examination showed dilated cerebral ventricles and hydronephrosis." +248000,"Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by {5:Olney, 2007} and {8:Williams et al., 2008}). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by {1:Alfaiz et al., 2014})." +248100,"{1:Christiansen (1929)} described a Danish kindred in which 7 infants (6 females, 1 male), the offspring of sisters by presumably unrelated husbands, developed gross obesity beginning soon after birth. Precocious skeletal development was evident in the ossification centers and teeth. Marked voracity was a feature. Relative eosinophilia and low vitality with death of 5 of the children in the first year were noted. Adrenocortical adenomas were found at autopsy. The nature of the disorder is obscure." +248110,"{1:Teebi et al. (1989)} observed an inbred family in Kuwait in which 3 females and 2 males from a sibship of 10 had macrosomia, severe microphthalmia, and early infant death. Three of the affected infants had median cleft palate. All 5 affected sibs showed respiratory infections in early life and died either unexpectedly or because of a documented overwhelming infection." +248190,"HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, nephrocalcinosis, and severe visual impairment ({2:Konrad et al., 2006}). Amelogenesis imperfecta may also be present in some patients ({5:Yamaguti et al., 2017}).\n\nFor a discussion of genetic heterogeneity of renal hypomagnesemia, see {602014}." +248250,"Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by {15:Muller et al., 2006}). Amelogenesis imperfecta may also be present in some patients ({1:Bardet et al., 2016}).\n\nA similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; {248190}) is caused by mutations in another tight-junction gene, CLDN19 ({610036}), and is distinguished by the association of severe ocular involvement.\n\nFor a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 ({602014})." +248260,"{1:Darlu et al. (1982)} derived the genetic heritability of red cell magnesium (0.922), plasma magnesium (0.721), and the genetic correlation between the 2 traits (0.233). {2:Lalouel et al. (1983)} suggested that raised level of red cell Mg (but not plasma Mg) is controlled by a common major gene (q = 0.23), roughly 5% of the population being homozygous for the gene." +248300,"Mal de Meleda (MDM) is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities (summary by {6:Fischer et al., 2001})." +248310,"For general information on malaria and the influence of genetic factors on malaria susceptibility, progression, severity, and resistance, see {611162}." +248340,"The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by {10:Rooryck et al., 2011}).\n\nFor a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 ({257920})." +248350,"{1:Say et al. (1973)} described a brother and sister, born of healthy but consanguineous parents, who had triangular facies, malocclusion ('open bite'), and short stature. The girl was 146 cm tall at age 14 and the boy 107 cm tall at age 6." +248360,"Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy ({9:Sweetman and Williams, 2001})." +248370,"Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes ({37:Young et al., 1971}; {30:Simha and Garg, 2002}; summary by {11:Garavelli et al., 2009}).\n\nSee also MAD type B (MADB; {608612}), which is caused by mutation in the ZMPSTE24 gene ({606480})." +248390,"Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss ({1:Dauwerse et al., 2011}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 ({154500})." +248450,"Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance was assumed because of consanguinity in the Oji-Cre population of Manitoba in which the syndrome was first described (summary by {5:Slavotinek et al., 2011})." +248500,"Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by {31:Malm and Nilssen, 2008}).\n\n<Subhead> Classification Systems\n\nTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by {16:Desnick et al., 1976} and {18:Gotoda et al., 1998}). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by {31:Malm and Nilssen, 2008}). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations ({8:Berg et al., 1999}; {42:Riise Stensland et al., 2012})." +248510,"Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. The most severely affected patients show developmental delay and mental retardation, but there are differing levels of severity and some patients may have comparatively mild disease ({2:Bedilu et al., 2002}) The disorder was first described in goats ({10:Jones and Dawson, 1981}), who have a more severe neurodegenerative disorder than that seen in humans." +248600,"The major clinical features of maple syrup urine disease are mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine, resulting from a block in oxidative decarboxylation. There are 5 clinical subtypes of MSUD: the 'classic' neonatal severe form, an 'intermediate' form, an 'intermittent' form, a 'thiamine-responsive' form, and an 'E3-deficient with lactic acidosis' form ({246900}). All of these subtypes can be caused by mutations in any of the 4 genes mentioned above, except for the E3-deficient form, which is caused only by mutation in the E3 gene ({9:Chuang and Shih, 2001})." +248700,"Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis, and joint contractures. Other features may include Dandy-Walker malformation with hydrocephalus and vertebral abnormalities (summary by {17:Schrander-Stumpel et al., 1993}).\n\nThere are 2 distal arthrogryposis syndromes with features overlapping those of Marden-Walker syndrome that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and distal arthrogryposis type 5 (DA5; {108145}), which are distinguished by the presence of cleft palate and ocular abnormalities, respectively. {14:McMillin et al. (2014)} suggested that the 3 disorders may represent variable expressivity of the same condition." +248760,"{1:Houlston et al. (1992)} described 2 sisters with mental retardation, microcephaly, marfanoid habitus, and glomerulonephritis. Microcephaly, present at birth, was associated in both with prominent fourth ventricles by computerized tomographic scans, but no other cerebral anomalies. Both had relatively tall stature, highly arched palate, prognathism, arachnodactyly, and joint laxity. One also had dorsal kyphosis. In both, glomerulonephritis was diagnosed during the second decade. Mental retardation was moderate in severity (IQs 48 and 50). Renal failure necessitated dialysis and transplantation. The older sister was 18 years of age at the time of report." +248770,"{1:Fragoso and Cantu (1984)} studied 2 brothers and 2 sisters with psychomotor retardation, 'typical' flat facies, and some features of the Marfan syndrome (tall stature, long and slender limbs, arm span greater than height, arachnodactyly, little subcutaneous fat, and muscle hypotonia). Parental consanguinity could not be established but was suspected." +248800,"Marinesco-Sjogren syndrome is an autosomal recessive disorder characterized primarily by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. Other features include short stature, hypergonadotropic hypogonadism, and skeletal deformities due to muscle weakness. MSS is genetically distinct from congenital cataracts, facial dysmorphism, and neuropathy (CCFDN; {604168}), which is caused by mutation in the CTDP1 gene ({604927}) on chromosome 18q23, although the 2 disorders share some overlapping features, including congenital cataracts, delayed psychomotor development, and ataxia. The major distinguishing features are the presence of peripheral neuropathy, facial dysmorphism, and microcornea in CCFDN ({17:Lagier-Tourenne et al., 2003})." +248900,"Mast syndrome is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish (summary by {3:Simpson et al., 2003}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +248950,"{2:Neuhauser and Opitz (1975)} described a family with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome consisting of mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect. They called it McDonough syndrome. Three of 5 sibs were affected, leading to a suggestion of autosomal recessive inheritance. The authors considered it coincidental that the youngest affected sib had a chromosomal complement 47,XXY and the father was a mosaic 46,XY/47,XXY. {1:Garcia-Sagredo et al. (1984)} reported a second family in which 2 of 3 sibs (a girl and a boy) were affected. It was considered coincidental that the affected boy and the unaffected mother had a balanced X;20 translocation. The father had ptosis, which was also considered coincidental." +249000,"Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of {36:Opitz and Howe (1969)} and {62:Wright et al. (1994)}, stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, {46:Salonen (1984)} concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, {27:Logan et al. (2011)} stated that the classic triad first described by {31:Meckel (1822)} included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver.\n\n<Subhead> Genetic Heterogeneity of Meckel Syndrome\n\nSee also MKS2 ({603194}), caused by mutation in the TMEM216 gene ({613277}) on chromosome 11q12; MKS3 ({607361}), caused by mutation in the TMEM67 gene ({609884}) on chromosome 8q; MKS4 ({611134}), caused by mutation in the CEP290 gene ({610142}) on chromosome 12q; MKS5 ({611561}), caused by mutation in the RPGRIP1L gene ({610937}) on chromosome 16q12; MKS6 ({612284}), caused by mutation in the CC2D2A gene ({612013}) on chromosome 4p15; MKS7 ({267010}), caused by mutation in the NPHP3 ({608002}) gene on chromosome 3q22; MKS8 ({613885}), caused by mutation in the TCTN2 gene ({613846}) on chromosome 12q24; MKS9 ({614209}), caused by mutation in the B9D1 gene ({614144}) on chromosome 17p11; MKS10 ({614175}), caused by mutation in the B9D2 gene ({611951}) on chromosome 19q13; MKS11 ({615397}), caused by mutation in the TMEM231 gene ({614949}) on chromosome 16q23; MKS12 ({616258}), caused by mutation in the KIF14 gene ({611279}) on chromosome 1q32; MKS13 ({617562}), caused by mutation in the TMEM107 gene ({616183}) on chromosome 17p13; and MKS14 ({619879}), caused by mutation in the TXNDC15 gene ({617778}) on chromosome 5q31." +249100,"Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. Amyloidosis with renal failure is a complication and may develop without overt crises ({33:French FMF Consortium, 1997}).\n\nSee also autosomal dominant FMF ({134610}), which is caused by heterozygous mutation in the MEFV gene." +249210,"Megacystis-microcolon-intestinal hypoperistalsis syndrome-1 (MMIHS1) is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. A distended bladder (megacystis) may be detected on prenatal ultrasound. Intestinal malrotation has also been observed (summary by {6:Halim et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome\n\nSee MMIHS2 ({619351}), caused by mutation in the MYH11 gene ({160745}) on chromosome 16p13; MMIHS3 ({619362}), caused by mutation in the LMOD1 gene ({602715}) on chromosome 1q32; MMIHS4 ({619365}), caused by mutation in the MYL9 gene ({609905}) on chromosome 20q11; and MMIHS5 ({619431}), caused by mutation in the ACTG2 gene ({102545}) on chromosome 2p13." +249230,"{1:Gorlin et al. (1973)} described a seemingly 'new' syndrome in a 9-year-old boy who may have been the product of father-daughter incest. Unusual facies consisted of snub nose, epicanthal folds, and cleft palate. These findings and large joints were evident from birth. The prominence of almost all joints was progressive. Inferior subluxation of both lenses was found at age 9 years and this could be accounted for by the finding of homocystinuria. However, the authors concluded that the child had another recessive disorder resulting from the parental consanguinity." +249270,"Thiamine-responsive megaloblastic anemia syndrome comprises megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke (summary by {4:Bergmann et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Disorders Due to Thiamine Metabolism Dysfunction\n\nSee also episodic encephalopathies due to defects in thiamine metabolism: biotin-responsive basal ganglia disease (THMD2; {607483}), caused by mutation in the SLC19A3 gene ({606152}) on chromosome 2q36; Amish-type microcephaly (THMD3; {607196}) and bilateral striatal necrosis and progressive polyneuropathy (THMD4; {613710}), both caused by mutation in the SLC25A19 gene ({606521}) on chromosome 17q25; and THMD5 ({614458}), caused by mutation in the TPK1 gene ({606370}) on chromosome 7q35." +249300,Autosomal inheritance is much rarer than X-linked ({309300}). Megalocornea is often found in the Marfan syndrome ({154700}). +249400,"Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS; {137550}). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by {6:Kinsler et al., 2008}; {7:Kinsler et al., 2013})." +249420,"The primary characteristics of the Frank-ter Haar syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs (summary by {7:Maas et al., 2004}).\n\nBorrone syndrome was described as a severe progressive multisystem disorder with features overlapping those of FTHS, including thick skin, acne conglobata, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. Although it was initially thought to be a distinct phenotype, mutations in the FTHS-associated gene SH3PXD2B have been identified in patients diagnosed with Borrone syndrome. The earlier differential description was attributed to phenotypic variability as well as to differences in the ages at which patients were examined ({14:Wilson et al., 2014})." +249599,"{1:Fryns et al. (1990)} described a family in which 4 (3 males and 1 female) of 12 children from healthy, nonconsanguineous parents had a combination of moderate mental retardation, peculiar craniofacial dysmorphism, hypergonadotropic hypogonadism, eunuchoid habitus, diabetes mellitus, and epilepsy. All were investigated as adults. The diabetes was type I beginning in the teens. The craniofacial features included a narrow-based but broad nose with coloboma of the alae nasi, deep-set eyes, and a long face with relative mandibular prognathism." +249600,"{2:Mietens and Weber (1966)} reported a family in which 4 of 6 offspring of unaffected, second-cousin parents had a syndrome consisting of mental retardation, corneal opacity, nystagmus, strabismus, small pinched nose, flexion contracture of the elbows, dislocation of head of radius, abnormally short ulna and radius, and clinodactyly.\n\n{1:Martinez-Glez et al. (2006)} described 9-year-old female twins with Mietens-Weber syndrome. The patients were born after a normal pregnancy to young and nonconsanguineous parents. Findings noted soon after birth included horizontal nystagmus and dislocation of both elbows because of abnormally short radii and ulnae in both twins. Further clinical examinations showed moderate psychomotor delay with marked language compromise. Karyotypes were normal in both girls. {1:Martinez-Glez et al. (2006)} reviewed the literature and concluded that only 9 cases, including their 2, had been reported. The inheritance pattern appeared to be autosomal recessive. {1:Martinez-Glez et al. (2006)} stated that the finding of congenital nystagmus and radii dislocation in a patient with mental retardation is highly suggestive of the disorder." +249660,"{1:Barakat et al. (1982)} described a brother and sister who died at ages 3 and 5, respectively, of nephrosis and progressive renal failure and who also showed ocular abnormality. The boy had nystagmus and absent foveal reflexes; no eye examinations for further deterioration were made. He also had psychomotor retardation. The girl had nystagmus, bilateral optic atrophy, narrowing of the retinal arterioles, and abnormalities in the macular areas. Diffuse mesangial sclerosis is a rare form of kidney disease. According to the authors, this association has not previously been noted. Also see {609049}." +249670,"The Holt-Oram, Ellis-van Creveld, and Kaufman syndromes may be called cardiomelic dysplasias. {1:Martinez-y-Martinez et al. (1981)} described a new form in brother and sister who had mesoaxial hexadactyly (bifid third finger) and severe cardiac malformation. The sister died at age 6 days of cyanotic cardiorespiratory distress. The surviving brother, at age 17, was mildly mentally retarded with short stature and infantile genitalia. He also showed everted lower lip and ocular torticollis. Cardiac surgery at age 11 consisted of repair of atrial and ventricular septal defects, pulmonary valvulotomy for stenosis, and closure of a persistent ductus arteriosus (see {607411})." +249700,"Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula, and a thickened and curved radius and tibia. These changes can result in displacement deformities of the hands and feet. Hypoplasia of the mandible is also observed ({14:Langer, 1967}).\n\nSee also Leri-Weill dyschondrosteosis ({127300}), a less severe phenotype that results from heterozygous defect in the SHOX or SHOXY genes." +250100,"The metachromatic leukodystrophies comprise several allelic disorders. {55:Kihara (1982)} recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency ({249900}) and multiple sulfatase deficiency or juvenile sulfatidosis ({272200}), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy." +250220,"Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by {8:Smith et al., 2014})." +250250,"Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short-limbed short stature and fine, sparse hair. Additional features include ligamentous laxity, defective immunity, hypoplastic anemia, and neuronal dysplasia of the intestine (summary by {47:Ridanpaa et al., 2001}). CHH was first recognized by {40:McKusick et al. (1965)} in the Old Order Amish, a religious isolate (see also {41:McKusick, 1978}), and was later recognized as exceptionally prevalent in the Finnish population ({37:Makitie, 1992})." +250300,"This is one of the group of disorders formerly termed metaphyseal dysostosis. {3:Pena (1965)} and {2:Lenz (1967)} described affected sibs of normal parents. The metaphyses of the long bones had an extensive sponge-like appearance radiologically and showed, histologically, numerous islands of cartilage reminiscent of enchondromatosis. {4:Vaandrager (1960)} described concordant one-egg twins. {1:Kozlowski and Sikorska (1970)} described a case." +250420,"{1:Rimoin and McAlister (1971)} reported 3 brothers, born of consanguineous Sicilian parents, with an apparently autosomal recessive syndrome of metaphyseal dysplasia, short-limb dwarfism that was more apparent in the lower limbs, mild mental retardation, and conductive hearing loss. All 3 had repeated episodes of otitis media in childhood. Two had hyperopia and strabismus. Hands and feet were short and broad with squared-off nails, and fingers were noted to be markedly loose-jointed in all 3. The major radiographic changes were limited to the metaphyses, which were widened and irregular with broad areas of irregular dense calcification. The ribs were short and widened anteriorly with cupping and irregularity of the costochondral margins. The iliac wings were narrowed with a flattened pelvic inlet. The proximal femoral heads were well ossified but the femoral necks were small, resulting in a varus deformity. The long tubular bones were all markedly shortened. The distal ulnas were shortened and deformed relative to the radii. The lower limbs were bowed with the fibula longer than the tibia. Genu varum was present. The carpal and tarsal bones were small but not greatly deformed. The short tubular bones were all severely shortened with marked epiphyseal-metaphyseal flaring. The phalanges were wide." +250450,"{1:Temtamy et al. (1974)} described 2 Egyptian sisters, offspring of a first-cousin marriage, with marked metaphyseal dysplasia resembling Pyle disease, anetoderma (macular atrophy of the skin) and optic atrophy. Although the last was apparently congenital, compression of the cranial nerves was present. See {133690} for another skeletal disorder with anetoderma (or anetodermia)." +250500,"{1:Roy et al. (1968)} described a 14-year-old girl with defective metaphyseal modeling as in Pyle disease, increased bone density, plaque-like skin lesions, and signs of spastic paraplegia. The parents were not related." +250620,"3-Hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD) is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by {2:Ferdinandusse et al., 2013})." +250650,"{1:Bond et al. (1970)} made the following observations: Methane (CH4) in man is derived solely from the metabolism of the colonic flora. Respiratory CH4 excretion is a simple but reliable indicator of intestinal CH4 production. In the adult population about one-third excrete large amounts of CH4 whereas the others excrete very little. No adult changed his excretion status over a period of 1 year. Children below the age of 3 excrete no CH4. If both parents excrete CH4 all offspring over age 7 excrete CH4. The concordance between marriage partners was random. Eleven of 12 identical twins and 14 of 16 fraternal twins were concordant. The genetics of this trait is unclear. {7:Levitt and Duane (1972)} noted that floating of stools is related more to gas content, especially methane, than to fat. {3:Engel (1973)} never found enteric CH4 production in the first month of life. He suspected that babies acquire methane-producing bacteria from their mothers, since there was a 5-fold difference in frequency of CH4 production depending on whether the mother was or was not a producer. Because of a lack of correlation with fathers and because an adult can convert from consistently negative to consistently positive, Engel doubted a genetic basis. {4:Haines et al. (1977)} observed that 80% of colon cancer patients had detectable methane in their breath, compared with 39% of nonmalignant colonic disease patients and 40% of persons without colon disease. This suggested a difference in anaerobic intestinal flora in colon cancer. Whether the difference antedated or followed the development of cancer was unclear." +250790,"Methemoglobinemia and ambiguous genitalia is due to isolated 17,20-lyase deficiency, defined by apparently normal 17-alpha-hydroxylase activity but severely reduced 17,20-lyase activity of the CYP17A1 enzyme ({609300}), which results in sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve. The clinical phenotype is characterized by male undermasculinization, with absent or disturbed pubertal development in both 46,XY and 46,XX individuals. Mild to severe methemoglobinemia has been reported in these patients ({6:Idkowiak et al., 2012}).\n\nOther autosomal recessive methemoglobinemias include types I and II (see {250800}), caused by mutation in the CYB5R3 gene ({613213}). Isolated 17,20-lyase deficiency can also be caused by mutation in the CYP17A1 gene ({609300}), and mutation in the POR gene can manifest clinically as isolated 17,20-lyase deficiency (see {124015.0016})." +250800,"Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia (review by {40:Percy and Lappin, 2008}).\n\nThere are 2 types of methemoglobin reductase deficiency. In type I, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type II, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes, and all body tissues. Type II methemoglobinemia is associated with mental deficiency and other neurologic symptoms. The neurologic symptoms may be related to the major role played by the cytochrome b5 system in the desaturation of fatty acids ({53:Vives-Corrons et al., 1978}; {28:Kaplan et al., 1979})." +250850,"Methionine adenosyltransferase deficiency is an inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some with the autosomal recessive form have have neurologic abnormalities ({17:Mudd et al., 2003}; {14:Kim et al., 2016})." +250940,"Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase. Clinical features are somewhat variable, but include delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation. Methylmalonic aciduria is not present. Two complementation groups have been described based on fibroblast studies: CblE ({236270}) and CblG ({13:Watkins and Rosenblatt, 1988}). Most patients present in early infancy, but some patients with CblG have shown later onset ({9:Outteryck et al., 2012}). Cells from patients with CblE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. Cells from patients with CblG have defects in the methionine synthase enzyme under both conditions (summary by {7:Leclerc et al., 1996}).\n\nCblE is caused by mutation in the MTRR gene ({602568}).\n\n{14:Watkins and Rosenblatt (1989)} commented on the clinical and biochemical heterogeneity in patients with cblE and cblG." +250950,"3-Methylglutaconic aciduria type I (MGCA1) is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: one with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by {19:Wortmann et al., 2010}).\n\n<Subhead> Genetic Heterogeneity and Classification of Methylglutaconic Aciduria\n\nMethylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA (MGCA2), also known as Barth syndrome (BTHS; {302060}), is caused by mutation in the tafazzin gene (TAZ; {300394}) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA (MGCA3; {258501}), caused by mutation in the OPA3 gene ({606580}) on chromosome 19q13, involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA (MGCA4; {250951}) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA (MGCA5; {610198}), caused by mutation in the DNAJC19 gene ({608977}) on chromosome 3q26, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria ({1:Chitayat et al., 1992}; {2:Davey et al., 2006}). Type VI MGCA (MGCA6; {614739}), caused by mutation in the SERAC1 gene ({614725}) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7B, {616271} and MGCA7A, {619835}), caused by mutation in the CLPB gene ({616254}) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia. Type VIII MGCA (MGCA8; {617248}) is caused by mutation in the HTRA2 gene ({606441}) on chromosome 2p13. Type IX MGCA (MGCA9; {617698}) is caused by mutation in the TIMM50 gene ({607381}) on chromosome 19q13.\n\n{4:Eriguchi et al. (2006)} noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003.\n\n{18:Wortmann et al. (2013)} proposed a pathomechanism-based classification for 'inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature.'" +250951,"The category of 3-methylglutaconic aciduria type IV (MGCA4) represents a heterogeneous unclassified group of patients who share mild or intermittent urinary excretion of 3-methylglutaconic acid. MGCA excretion is a nonspecific finding observed in many other disorders caused by defects in mitochondrial energy metabolism ({2:Gunay-Aygun, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 ({250950})" +251000,"Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA ({251100}), caused by mutation in the MMAA gene ({607481}) on chromosome 4q31, and cblB ({251110}), caused by mutation in the MMAB gene ({607568}) on 12q24.\n\nCombined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC ({277400}), cblD ({277410}), and cblF ({277380}).\n\nSee the comprehensive review of {17:Ledley (1990)}." +251100,"Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB ({251110}), which is caused by mutation in the MMAB gene ({607568}) on 12q24. See also cblH ({277410}), which may be a subset of cblA. The 'mut' form of MMA ({251000}) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy.\n\nCombined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC ({277400}), cblD ({277410}), cblF ({277380}), and cblJ ({614857})." +251110,"Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA ({251100}). The cblA type is caused by mutation in the MMAA gene ({607481}). The 'mut' type ({251000}) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.\n\nCombined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC ({277400}), cblD ({277410}), and cblF ({277380})." +251200,"Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (review by {29:Woods et al., 2005}).\n\nMost cases of primary microcephaly show an autosomal recessive mode of inheritance. Because MCPH directly affects neurogenesis, or neurogenic mitosis, rather than growth of the skull, some prefer the term 'micrencephaly' ({9:Hofman, 1984}).\n\nMCPH1 in particular is associated with premature chromosome condensation in cell studies ({4:Darvish et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Primary Microcephaly\n\nPrimary microcephaly is a genetically heterogeneous disorder. See MCPH2 ({604317}), caused by mutation in the WDR62 gene ({613583}) on chromosome 19q13; MCPH3 ({604804}), caused by mutation in the CDK5RAP2 gene ({608201}) on 9q33; MCPH4 ({604321}), caused by mutation in the CASC5 gene ({609173}) on 15q14; MCPH5 ({608716}), caused by mutation in the ASPM gene ({605481}) on 1q31; MCPH6 ({608393}), caused by mutation in the CENPJ gene ({609279}) on 13q12; MCPH7 ({612703}), caused by mutation in the STIL gene ({181590}) on 1p33; MCPH8 ({614673}), caused by mutation in the CEP135 gene ({611423}) on 4q12; MCPH9 ({614852}), caused by mutation in the CEP152 gene ({613529}) on 15q21; MCPH10 ({615095}), caused by mutation in the ZNF335 gene ({610827}) on 20q13; MCPH11 ({615414}), caused by mutation in the PHC1 gene ({602978}) on 12p13; MCPH12 ({616080}), caused by mutation in the CDK6 gene ({603368}) on 7q21; MCPH13 ({616051}), caused by mutation in the CENPE gene ({117143}) on 4q24; MCPH14 ({616402}), caused by mutation in the SASS6 gene ({609321}) on 1p21; MCPH15 ({616486}), caused by mutation in the MFSD2A gene ({614397}) on 1p34; MCPH16 ({616681}), caused by mutation in the ANKLE2 gene ({616062}) on 12q24; MCPH17 ({617090}), caused by mutation in the CIT gene ({605629}) on 12q24; MCPH18 ({617520}), caused by mutation in the WDFY3 gene ({617485}) on 4q21; and MCPH19 ({617800}), caused by mutation in the COPB2 gene ({606990}) on 3q23; MCPH20 ({617914}), caused by mutation in the KIF14 gene ({611279}) on 1q31; MCPH21 ({617983}), caused by mutation in the NCAPD2 gene ({615638}) on 12p13; MCPH22 ({617984}), caused by mutation in the NCAPD3 gene ({609276}) on 11q25; MCPH23 ({617985}), caused by mutation in the NCAPH gene ({602332}) on 2q11; MCPH24 ({618179}), caused by mutation in the NUP37 gene ({609264}) on 12q23; MCPH25 ({618351}), caused by mutation in the MAP11 gene ({618350}) on 7q22; MCPH26 ({619179}), caused by mutation in the LMNB1 gene ({150340}) on 5q23; MCPH27 ({619180}), caused by mutation in the LMNB2 gene ({150341}) on 19p13; and MCPH28 ({619453}), caused by mutation in the RRP7A gene ({619449}) on 22q13." +251220,"In a brother and sister of Afrikaner stock, {2:Winship et al. (1991)} observed severe microcephaly with mental retardation and dilated cardiomyopathy developing in infancy and later resolving completely. Both had bilateral fifth finger clinodactyly and sandal gaps on both feet.\n\n{1:Kennedy et al. (1999)} reported a 9-year-old Canadian girl with features similar to those of the sibs in the report of {2:Winship et al. (1991)}. She was born to nonconsanguineous parents following an uncomplicated pregnancy. The neonatal period was complicated by seizures and cardiac failure secondary to a ventricular septal defect. Early development was globally delayed. Dilated cardiomyopathy was first noted at 3 years of age, but had completely resolved by 7 years of age. At 9 years of age the patient had a sloping, short forehead, downslanting palpebral fissures, a narrow palate, and crowded teeth. Hands were normal but the halluces were long, and there was a large gap between first and second toes. Her expressive language was poor, but her parents reported that her receptive skills were better. Behavioral problems included inability to sleep and obsessive picking of sores. High-resolution karyotyping to examine regions 15q11-q13 and 22q11, and FISH analysis for 17q11.2 deletion, were normal." +251230,"Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by {1:Evrony et al., 2017})." +251240,"{6:Say et al. (1986)} reported 2 brothers with microcephaly, dysmorphic facies, developmental delay, and hypoglobulinemia. Their facial similarity was striking, with sloping forehead, beaked nose, large and protruding ears, micrognathia, and high-arched palate. One brother had craniosynostosis. Both brothers had hypogonadism, flexion contractures, hypoplastic patellae, and scoliosis. They also showed low levels of serum gammaglobulins in infancy reaching normal levels by 3.5 years and 15 months, respectively. Defective chemotaxis and recurrent infections were present from the beginning and persisted to age of report, age 7 in the older brother. {2:Carpenter et al. (1996)} provided a brief follow-up of the patients reported by {6:Say et al. (1986)} at ages 18 and 19 years. Both boys had recurrent infections since birth, and they also developed skeletal changes consistent with multiple epiphyseal dysplasia and the autoimmune phenomena of recurrent panniculitis and erythema nodosum. Treatment with gammaglobulin every 3 weeks improved their condition. Linkage analysis showed that the brothers both inherited the same maternal alleles at Xp22.2-p21.2, suggesting X-linked inheritance.\n\n{3:Perandones et al. (1996)} reported a 13-year-old boy with severe microcephaly, mental retardation, short stature, and recurrent infections. Dysmorphic features included a sloping forehead, metopic suture synostosis, abnormal hairlines, sparse eyebrows, hypertelorism, upslanting palpebral fissures, prominent nasal bridge, high-arched palate, irregular dental implantation, multiple caries, micrognathia, and low-set, posteriorly rotated ears. He also had flexion contractures of the limbs, ulnar deviation of the fingers with clinodactyly of the fifth fingers, dislocated hips, hypoplastic and displaced patellae, scoliosis, hypogonadism, cryptorchidism, and eczematous skin. Laboratory studies showed defective neutrophil chemotaxis. {3:Perandones et al. (1996)} suggested that this patient had the same syndrome as that described by {6:Say et al. (1986)}.\n\n{1:Carpenter et al. (2000)} stated that the 2 brothers reported by {6:Say et al. (1986)} developed macular degeneration and pigmented retinal lesions resembling retinitis pigmentosa. Laboratory studies showed normal IgG levels but IgG subclass deficiencies and decreased cellular immunity. Nijmegen syndrome (NBS; {251260}), ADA deficiency ({102700}), cartilage-hair hypoplasia (CHH; {250250}), and Lowry-Wood syndrome ({226960}) were excluded. {1:Carpenter et al. (2000)} suggested that their patients had the disorder reported by {4:Roifman (1999)} ({300258}). In a reply, however, {5:Roifman (2000)} noted several phenotypic differences and differences in specific immunodeficiencies between the 2 disorders and disputed that the 2 disorders were the same entity." +251250,"{1:Zackai et al. (1972)} described brothers, from a consanguineous marriage, who had microcephaly, mild mental retardation, short stature, and skeletal anomalies. The facies were similar to those in Seckel syndrome. One brother had fusion C6-7 with instability at C2-3 producing spinal cord compression. The other brother had fusion at C2-3 and C7-T1." +251260,"The Nijmegen breakage syndrome and the phenotypically indistinguishable Berlin breakage syndrome are autosomal recessive chromosomal instability syndromes characterized by microcephaly, growth retardation, immunodeficiency, and predisposition to cancer. Ataxia-telangiectasia variant-1 is the designation applied to the Nijmegen breakage syndrome and AT variant-2 is the designation for the Berlin breakage syndrome, which differ only in complementation studies. Cells from NBS/BBS patients are hypersensitive to ionizing radiation with cytogenetic features indistinguishable from those of ataxia-telangiectasia (AT; {208900}), but NBS/BBS patients have a distinct clinical phenotype.\n\nThe clinical features of LIG4 syndrome ({606593}), caused by mutation in the LIG4 gene ({601837}), resemble those of NBS." +251270,"Microcephaly and chorioretinopathy is an autosomal recessive developmental disorder characterized by delayed psychomotor development and visual impairment, often accompanied by short stature (summary by {5:Martin et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Microcephaly and Chorioretinopathy\n\nSee also MCCRP2 ({616171}), caused by mutation in the PLK4 gene ({605031}) on chromosome 4q27, and MCCRP3 ({616335}), caused by mutation in the TUBGCP4 gene ({609610}) on chromosome 15q15.\n\nAn autosomal dominant form of microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is caused by heterozygous mutation in the KIF11 gene ({148760}) on chromosome 10q23.\n\nSee also Mirhosseini-Holmes-Walton syndrome (autosomal recessive pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1." +251280,"Diencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present (summary by {2:Aran et al., 2016} and {8:Guemez-Gamboa et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Diencephalic-Mesencephalic Junction Dysplasia Syndrome\n\nSee also DMJDS2 ({618646}), caused by mutation in the GSX2 gene ({616253}) on chromosome 4q12." +251290,"Pseudo-TORCH syndrome-1 (PTORCH1) is an autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, simplified gyration and polymicrogyria, and severe developmental delay ({12:Reardon et al., 1994}; {11:O'Driscoll et al., 2010}).\n\n{7,6:Crow et al. (2000, 2003)} called attention to the phenotypic overlap of pseudo-TORCH syndrome and Aicardi-Goutieres syndrome (AGS; {225750}), and even suggested that some cases may represent the same disorder. Congenital microcephaly, thrombocytopenia, hepatic dysfunction, and hepatosplenomegaly are usually associated with pseudo-TORCH syndrome and not with AGS, but some patients with AGS have shown these features.\n\n<Subhead> Genetic Heterogeneity of Pseudo-TORCH Syndrome\n\nSee also PTORCH2 ({617397}), caused by mutation in the USP18 gene ({607057}) on chromosome 22q11, and PTORCH3 ({618886}), caused by mutation in the STAT2 gene ({600556}) on chromosome 12q13." +251300,"Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by {18:Vodopiutz et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Galloway-Mowat Syndrome\n\nSee also GAMOS2 ({301006}), caused by mutation in the LAGE3 gene ({300060}) on chromosome Xq28; GAMOS3 ({617729}), caused by mutation in the OSGEP gene ({610107}) on chromosome 14q11; GAMOS4 ({617730}), caused by mutation in the TP53RK gene ({608679}) on chromosome 20q13; GAMOS5 ({617731}), caused by mutation in the TPRKB gene ({608680}) on chromosome 2p13; GAMOS6 ({618347}), caused by mutation in the WDR4 gene ({605924}) on chromosome 21q22; GAMOS7 ({618348}), caused by mutation in the NUP107 gene ({607617}) on chromosome 12q15; GAMOS8 ({618349}), caused by mutation in the NUP133 gene ({607613}) on chromosome 1q42; GAMOS9 ({619603}), caused by mutation in the GON7 gene ({617436}) on chromosome 14q32; and GAMOS10 ({619609}), caused by mutation in the YRDC gene ({612276}) on chromosome 1p34." +251400,"{1:Caresano and Borghi (1966)} described microcolon in 2 newborn males of an Italian family. Microcolon occurs with agangliosis of the entire colon and part of the small intestine and with obstruction of the small intestine as in congenital atresia or meconium ileus. Thus, a familial aggregation of microcolon might result from the well-known occurrence of meconium ileus with cystic fibrosis of the pancreas. {3:Lee and MacMillan (1950)} claimed that it can rarely be considered a primary entity." +251450,"Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by {15:Huber et al., 2009}).\n\nDesbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints ({9:Faivre et al., 2004}). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD ({13:Furuichi et al., 2011}). In addition, {16:Kim et al. (2010)} described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD ({13:Furuichi et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Desbuquois Dysplasia\n\nDBQD2 ({615777}) is caused by mutation in the XYLT1 gene ({608124}) on chromosome 16p12.\n\nTwo unrelated patients with immunodeficiency-23 (IMD23; {615816}), due to mutation in the PGM3 gene ({172100}), were reported to have skeletal features reminiscent of DBQD." +251505,"For a discussion of genetic heterogeneity of isolated microphthalmia with coloboma, see MCOPCB1 ({300345}).\n\nIsolated microphthalmia associated with colobomatous cyst results from a defect in the closure of the embryonic fissure at the 7- to 20-mm stage of development. Microphthalmia can be associated with either a small, clinically undetectable cyst, or a large, typically inferior cyst that deforms the eye and its surroundings. It is usually unilateral, although bilateral cases have been described. {2:Porges et al. (1992)} described 5 cases of microphthalmia with colobomatous cyst in 3 separate sibships of a highly inbred kindred. Orbital computed tomography was useful in defining the size of the globe and characterizing the cystic lesions. None of the 5 patients had light perception in either eye and there was no recordable electroretinogram or visual evoked potentials. Most of the globes were deeply set and undetectable clinically (clinical anophthalmos).\n\n{1:Hornby et al. (2000)} correlated visual function with clinical features and biometric findings in the eyes of children with coloboma. Of the 196 eyes with colobomatous malformations, 11 had microphthalmos with cyst, and 185 eyes had coloboma (associated with microcornea in 155 eyes and with normal corneal diameter in 30 eyes). The visual prognosis depended on the phenotype of the more normal eye. Microphthalmos with cyst had the worst prognosis (all worse than 20/400). Microcornea with microphthalmos had a worse prognosis than microcornea without microphthalmos. For microcornea with microphthalmos, 67% saw worse than 20/400. Of the children with microcornea without microphthalmos, 76% saw better than 20/400. Simple coloboma (without microcornea or microphthalmos) had the best visual prognosis: only 7% saw 20/400 or worse. A corneal diameter of less than 6 mm had a poor visual prognosis, whereas a corneal diameter of more than 10 mm had a good prognosis." +251600,"Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by {7:Fuchs et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Isolated Microphthalmia\n\nMCOP1 has been mapped to chromosome 14q32. MCOP2 ({610093}) is caused by mutation in the CHX10 gene ({142993}) on chromosome 14q24. MCOP3 ({611038}) is caused by mutation in the RAX gene ({601881}) on chromosome 18q21.3. MCOP4 ({613094}) is caused by mutation in the GDF6 gene ({601147}) on chromosome 8q22.1. MCOP5 ({611040}) is caused by mutation in the MFRP gene ({606227}) on chromosome 11q23. MCOP6 ({613517}) is caused by mutation in the PRSS56 gene ({613858}) on chromosome 2q37.1. MCOP7 ({613704}) is caused by mutation in the GDF3 gene ({606522}) on chromosome 12p13.1. MCOP8 ({615113}) is caused by mutation in the ALDH1A3 gene ({600463}) on chromosome 15q26." +251700,"In a sibship of 7 without parental consanguinity, {1:Franceschetti and Gernet (1965)} found 4 (3 males, 1 female) with marked microphthalmia diagnosed by ultrasound, with cornea of normal size. Associated ocular features were high-grade hyperopia, macrophakia, retinal degeneration reminiscent of fundus albipunctatus ({136880}) or fundus flavimaculatus (see {248200}), hemeralopia, and glaucoma. All 4 affected individuals had extremely poor dentition; the sister had full dentures by 31 years of age." +251750,"Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by {1:Ben Yahia et al., 2009}).\n\nMicrospherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; {154700}), and Weill-Marchesani syndrome (WMS; {277600})." +251850,"Diarrhea-2 with microvillus atrophy, with or without cholestasis (DIAR2) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease (MVID) with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. Definite diagnosis is made by transmission electron microscopy demonstrating shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature enterocytes and peripheral accumulation of periodic acid-Schiff (PAS)-positive granules or vesicles in immature enterocytes ({10:Muller et al., 2008}). The natural course of MVID is often fatal, but partial or total weaning from parenteral nutrition has been described.\n\nFor a discussion of genetic heterogeneity of diarrhea, see DIAR1 ({214700})." +251880,"Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion ({9:Mandel et al., 2001}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 ({603041})." +251900,"Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy (MEOAL) is an autosomal recessive neuromuscular disorder characterized mainly by childhood onset of progressive muscle weakness and exercise intolerance. Patients have episodic exacerbation, which may be associated with increased serum creatine kinase or lactic acid. Additional more variable features may include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. The disorder results from impaired formation of Fe-S clusters, which are essential cofactors for proper mitochondrial function (summary by {2:Gurgel-Giannetti et al., 2018})" +251945,"{1:Schapira et al. (1990)} described the 14-year-old daughter of an English father and Chinese mother who had had muscle weakness and exercise intolerance since early infancy. Fetal movements had been reduced during pregnancy. There were no clinical manifestations related to systems other than skeletal muscle. Deficiency of respiratory-chain Complexes I to IV was found. Mitochondrial preparations showed specific deficiencies of both the iron-sulfur protein of Complex III ('Rieske' protein) and the 27.2-kD subunit of succinate dehydrogenase. Similar experiments with muscle homogenates indicated a deficiency of the subunit of succinate dehydrogenase, but normal levels of the precursor Rieske protein. The findings were interpreted as indicating a defect in the transport of the Rieske protein into mitochondria. {1:Schapira et al. (1990)} speculated that some iron-sulfur proteins of the mitochondrial respiratory chain may be encoded by a cluster of nuclear genes and that a mutation affecting a single coding sequence could account for the double deficiency. This could lead to a reduced synthesis of the 27.2-kD polypeptide and produce changes in the coding of the Rieske precursor sequence such that its receptor-mediated transport into mitochondria is defective." +252010,"Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders ({21:McFarland et al., 2004}; {16:Kirby et al., 2004}). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (see {256000}), Leber hereditary optic neuropathy ({535000}), and some forms of Parkinson disease (see {556500}) ({19:Loeffen et al., 2000}; {26:Pitkanen et al., 1996}; {28:Robinson, 1998}).\n\n<Subhead> Genetic Heterogeneity of Complex I Deficiency\n\nMitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible (summary by {14:Haack et al., 2012}). However, the majority of cases are caused by mutations in nuclear-encoded genes ({19:Loeffen et al., 2000}; {33:Triepels et al., 2001}).\n\nComplex I deficiency resulting from mutation in nuclear-encoded genes include MC1DN1, caused by mutation in the NDUFS4 gene ({602694}); MC1DN2 ({618222}), caused by mutation in the NDUFS8 gene ({602141}); MC1DN3 ({618224}), caused by mutation in the NDUFS7 gene ({601825}); MC1DN4 ({618225}), caused by mutation in the NDUFV1 gene ({161015}); MC1DN5 ({618226}), caused by mutation in the NDUFS1 gene ({157655}); MC1DN6 ({618228}), caused by mutation in the NDUFS2 gene ({602985}); MC1DN7 ({618229}), caused by mutation in the NDUFV2 gene ({600532}); MC1DN8 ({618230}), caused by mutation in the NDUFS3 gene ({603846}); MC1DN9 ({618232}), caused by mutation in the NDUFS6 gene ({603848}); MC1DN10 ({618233}), caused by mutation in the NDUFAF2 gene ({609653}); MC1DN11 ({618234}), caused by mutation in the NDUFAF1 gene ({606934}); MC1DN12 ({301020}), caused by mutation in the NDUFA1 gene ({300078}); MC1DN13 ({618235}), caused by mutation in the NDUFA2 gene ({602137}); MC1DN14 ({618236}), caused by mutation in the NDUFA11 gene ({612638}); MC1DN15 ({618237}), caused by mutation in the NDUFAF4 gene ({611776}); MC1DN16 ({618238}), caused by mutation in the NDUFAF5 gene ({612360}); MC1DN17 ({618239}), caused by mutation in the NDUFAF6 gene ({612392}); MC1DN18 ({618240}), caused by mutation in the NDUFAF3 gene ({612911}); MC1DN19 ({618241}), caused by mutation in the FOXRED1 gene ({613622}); MC1DN20 ({611126}), caused by mutation in the ACAD9 gene ({611103}); MC1DN21 ({618242}), caused by mutation in the NUBPL gene ({613621}); MC1DN22 ({618243}), caused by mutation in the NDUFA10 gene ({603835}); MC1DN23 ({618244}), caused by mutation in the NDUFA12 gene ({614530}); MC1DN24 ({618245}), caused by mutation in the NDUFB9 gene ({601445}); MC1DN25 ({618246}), caused by mutation in the NDUFB3 gene ({603839}); MC1DN26 ({618247}), caused by mutation in the NDUFA9 gene ({603834}); MC1DN27 ({618248}), caused by mutation in the MTFMT gene ({611766}); MC1DN28 ({618249}), caused by mutation in the NDUFA13 gene ({609435}); MC1DN29 ({618250}), caused by mutation in the TMEM126B gene ({615533}); MC1DN30 ({301021}), caused by mutation in the NDUFB11 gene ({300403}); MC1DN31 ({618251}), caused by mutation in the TIMMDC1 gene ({615534}); MC1DN32 ({618252}), caused by mutation in the NDUFB8 gene ({602140}); MC1DN33 ({618253}), caused by mutation in the NDUFA6 gene ({602138}); MC1DN34 ({618776}), caused by mutation in the NDUFAF8 gene ({618461}); MC1DN35 ({619003}), caused by mutation in the NDUFB10 gene ({603843}); MC1DN36 ({619170}), caused by mutation in the NDUFC2 gene ({603845}); MC1DN37 ({619272}), caused by mutation in the NDUFA8 gene ({603359}); and MC1DN38 ({619382}), caused by mutation in the DNAJC30 gene ({618202}).\n\nComplex I deficiency with mitochondrial inheritance has been associated with mutation in 6 mitochondrial-encoded components of complex I: MTND1 ({516000}), MTND2 ({516001}), MTND3 ({516002}), MTND4 ({516003}), MTND5 ({516005}), MTND6 ({516006}). Most of these patients have a phenotype of Leber hereditary optic neuropathy (LHON; {535000}) or Leigh syndrome. Features of complex I deficiency may also be caused by mutation in other mitochondrial genes, including MTTS2 ({590085})." +252011,"Mitochondrial complex II deficiency is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, and muscle with onset in infancy, whereas others have only isolated cardiac or muscle involvement. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by {6:Jain-Ghai et al., 2013}).\n\nComplex II, also known as succinate dehydrogenase, is part of the mitochondrial respiratory chain.\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex II Deficiency\n\nSee MC2DN2 ({619166}), caused by mutation in the SDHAF1 gene ({612848}) on chromosome 19q13; MC2DN3 ({619167}), caused by mutation in the SDHD gene ({602690}) on chromosome 11q23; and MC2DN4 ({619224}), caused by mutation in the SDHB gene ({185470}) on chromosome 1p36.\n\n{5:Fullerton et al. (2020)} reviewed the genetic basis of isolated mitochondrial complex II deficiency." +252150,"Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH; {607633}) and sulfite oxidase (SUOX; {606887}), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by {16:Reiss, 2000}; {21:Reiss et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Molybdenum Cofactor Deficiency\n\nSee also MOCOD, complementation group B (MOCODB; {252160}), caused by mutation in the MOCS2 gene ({602708}) on chromosome 5q11; and MOCOD, complementation group C (MOCODC; {615501}), caused by mutation in the GPHN gene ({603930}) on chromosome 14q24." +252160,"Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by {6:Reiss et al., 1999}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA ({252150}), which is clinically indistinguishable from MOCODB." +252250,"In a 9-year-old girl with chronic mucocutaneous candidiasis and cutaneous anergy, {1:Snyderman et al. (1973)} found that mononuclear leukocytes failed to migrate in vitro toward two chemotactic stimuli, leukocyte-derived chemotactic factor and C5A. After treatment with transfer factor, the patient's monocytes responded to both chemotactic factors. There is no information on the genetics of this presumably genetic disorder, but autosomal recessive inheritance is a reasonable presumption. Deficiency of leukocyte myeloperoxidase has been found with disseminated candidiasis ({254600}). In other cases chronic mucocutaneous candidiasis has been related to a deficiency of lymphokine ({247650}) or a defect in lymphocyte transformation that either is intrinsic ({247450}) or results from inhibition by a serum factor ({247430})." +252270,"Monosomy 7 myelodysplasia and leukemia syndrome-1 (M7MLS1) is an autosomal dominant hematologic disorder with highly variable manifestations. Most patients present in early childhood with pancytopenia and dyspoietic or dysplastic changes in the bone marrow. These abnormalities are almost always associated with monosomy 7 in the bone marrow. In severely affected individuals, the phenotype progresses to frank myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML). Less severely affected individuals may have transient thrombocytopenia or anemia, or have normal peripheral blood counts with transient bone marrow abnormalities or transient monosomy 7. Germline mutations in the SAMD9L gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by {18:Wong et al., 2018}).\n\nMonosomy 7 or partial deletion of the long arm of chromosome 7 (7q-) is a frequent cytogenetic finding in the bone marrow of patients with myelodysplasia and acute myelogenous leukemia. Furthermore, monosomy 7 or 7q- is the most frequent abnormality of karyotype in cases of AML that occur after cytotoxic cancer therapy or occupational exposure to mutagens. The age distribution of de novo cases shows peaks in the first and fifth decades. Monosomy 7 is found in about 5% of de novo and 40% of secondary cases of AML. These findings suggest that loss of certain genes at this region is an important event in the development of myelodysplasia (summary by {16:Shannon et al., 1989}).\n\n<Subhead> Genetic Heterogeneity of Monosomy 7 Myelodysplastic and Leukemia Syndrome\n\nSee also M7MLS2 ({619041}), caused by germline mutation in the SAMD9 gene ({610457}) on chromosome 7q21." +252300,"Morquio syndrome is an autosomal recessive mucopolysaccharidosis characterized by short trunk dwarfism, fine corneal opacities, skeletal changes, and normal intelligence.\n\nMorquio syndromes A (MPS4A; {253000}) and B (MPS4B; {253010}) are caused by mutations in the N-acetylglucosamine-6-sulfate sulfatase (GALNS; {612222}) and beta-galactosidase (GLB1; {611458}) genes, respectively. MPS4A and MPS4B are characterized biochemically by increased urinary excretion of keratan sulfate ({1:Beck et al., 1986}).\n\nThere is some evidence of an additional form of Morquio syndrome, referred to here as type C, in which urinary excretion of keratan sulfate is absent. However, {5:McKusick (1972)} suggested that the nonkeratosulfate- excreting Morquio syndrome may be allelic to other forms of Morquio syndrome." +252320,"{1:Lisker et al. (1981)} described 2 sisters with distal, slowly progressive muscular weakness and hypotrophy since childhood, and autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold, orthostatic hypotension, and esophageal achalasia. Nerve conduction velocity of several motor nerves was slow. Although no sensory abnormality was found, sural nerve biopsy showed nonspecific demyelination. No similar patients were identified in the literature." +252350,"Moyamoya is the name given to a cerebral angiographic picture of bilateral intracranial carotid artery occlusion associated with telangiectatic vessels in the region of the basal ganglia. The Japanese word moyamoya means 'something hazy like a puff of cigarette smoke, drifting in the air.' Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults (summary by {18:Suzuki, 1986}).\n\n<Subhead> Genetic Heterogeneity of Moyamoya Disease\n\nThe MYMY1 locus maps to chromosome 3p. See also susceptibility to moyamoya disease-2 (MYMY2; {607151}), caused by variation in the RNF213 gene ({613768}) on chromosome 17q25; MYMY3 ({608796}), which maps to chromosome 8q23; MYMY5 ({614042}), caused by mutation in the ACTA2 gene ({102620}) on chromosome 10q23; and MYMY6 with achalasia ({615750}), caused by mutation in the GUCY1A3 gene ({139396}) on chromosome 4q32.\n\nSee also MYMY4 ({300845}), an X-linked recessive syndromic disorder characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism." +252500,"Mucolipidosis type II alpha/beta is an autosomal recessive disorder characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates. It is phenotypically more severe than the allelic disorder mucolipidosis type III alpha/beta (summary by {40:Paik et al., 2005})." +252600,"Mucolipidosis type III alpha/beta is an autosomal recessive disorder characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates. It is phenotypically less severe than the allelic disorder mucolipidosis type II alpha/beta (summary by {21:Paik et al., 2005})." +252605,"Mucolipidosis type III gamma is an autosomal recessive disorder characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates (summary by {11:Raas-Rothschild et al., 2000})." +252650,"Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients ({10:Chen et al., 1998})." +252900,"The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate ({3:Esposito et al., 2000}). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported ({34:van de Kamp et al., 1981}) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.\n\n<Subhead> Genetic Heterogeneity of Mucopolysaccharidosis Type III\n\nMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940})." +252920,"Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe ({4:Chinen et al., 2005}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA ({252900})." +252930,"Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA ({252900})." +252940,"The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described ({8:Mok et al., 2003})." +253000,"Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system (CNS) involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life ({39:Montano et al., 2008}).\n\n{37:McKusick (1972)} noted that between 1929 and 1959, a miscellany of skeletal disorders was included in the Morquio category, including various types of spondyloepiphyseal dysplasia (see, e.g., {183900}) and multiple epiphyseal dysplasia (see, e.g., {132400}).\n\n{41:Nelson et al. (1988)} proposed the division of MPS IVA into 3 subgroups: severe classic, intermediate, and mild, reflecting clinical variability observed in 12 enzymatically proven cases. Those who were only mildly affected showed a relatively high residual enzyme activity." +253010,"Mucopolysaccharidosis type IVB (MPS4B) is an autosomal recessive disorder characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal. There is increased urinary keratan sulfate excretion ({13:Suzuki et al., 2001}).\n\nSee mucopolysaccharidosis type IVA (MPS4A; {253000}), also known as Morquio syndrome A, a genetically distinct disorder with overlapping clinical features caused by mutation in the GALNS gene ({612222}) on chromosome 16q24.\n\nThere may also be a nonkeratan sulfate-excreting form of Morquio syndrome, so-called type C ({252300})." +253200,"Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal ({2:Azevedo et al., 2004})." +253220,"Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment ({22:Shipley et al., 1993}). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved." +253250,"Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by {6:Hamalainen et al., 2006})." +253260,"Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. {35:Sweetman (1981)} recognized that multiple carboxylase deficiency could be classified into early (see {253270}) and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. {35:Sweetman (1981)} proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively.\n\nSome patients with biotinidase deficiency present in infancy ({2:Baumgartner et al., 1985}; {17:Kalayci et al., 1994}), and some individuals with this deficiency are asymptomatic ({49:Wolf et al., 1997})." +253270,"Holocarboxylase synthetase deficiency, a biotin-responsive multiple carboxylase deficiency (MCD), is characterized by metabolic acidosis, lethargy, hypotonia, convulsions, and dermatitis. Most patients present in the newborn or early infantile period, but some become symptomatic in the later infantile period (summary by {18:Suzuki et al., 2005}).\n\nAlso see biotinidase deficiency ({253260}), another form of MCD with a later onset.\n\nCare must be taken to differentiate the inherited multiple carboxylase deficiencies from acquired biotin deficiencies, such as those that develop after excessive dietary intake of avidin, an egg-white glycoprotein that binds specifically and essentially irreversibly to biotin ({21:Sweetman et al., 1981}) or prolonged parenteral alimentation without supplemental biotin ({8:Mock et al., 1981})." +253280,"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' (summary by {7:Godfrey et al., 2007}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670})." +253300,"Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy (summary by {99:Wirth, 2000}).\n\nFour types of SMA are recognized depending on the age of onset, the maximum muscular activity achieved, and survivorship: type I, severe infantile acute SMA, or Werdnig-Hoffman disease; type II ({253550}), or infantile chronic SMA; type III ({253400}), juvenile SMA, or Wohlfart-Kugelberg-Welander disease; and type IV ({271150}), or adult-onset SMA. All types are caused by recessive mutations in the SMN1 gene.\n\n{59:Lunn and Wang (2008)} provided a detailed review of clinical features, molecular pathogenesis, and therapeutic strategies for SMA." +253310,"Autosomal recessive lethal congenital contracture syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see {108120}), a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by {5:Markus et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Lethal Congenital Contracture Syndrome\n\nSee also lethal congenital contracture syndrome-2 (LCCS2; {607598}), caused by mutation in the ERBB3 gene ({190151}); LCCS3 ({611369}), caused by mutation in the PIP5K1C gene ({606102}); LCCS4 ({614915}), caused by mutation in the MYBPC1 gene ({160794}); LCCS5 ({615368}), caused by mutation in the DNM2 gene ({602378}); LCCS6 ({616248}), caused by mutation in the ZBTB42 gene ({613915}); LCCS7 ({616286}), caused by mutation in the CNTNAP1 gene ({602346}); LCCS8 ({616287}), caused by mutation in the ADCY6 gene ({600294}); LCCS9 ({616503}), caused by mutation in the ADGRG6 gene ({612243}); LCCS10 ({617022}), caused by mutation in the NEK9 gene ({609798}); and LCCS11 ({617194}), caused by mutation in the GLDN gene ({608603})." +253320,"{1:Chudley et al. (1985)} described a family in which an adult brother and sister had congenital, nonprogressive myopathy due to multicore disease, severe mental retardation, short stature, and small pituitary fossa with sexual infantilism due to hypogonadotropic hypogonadism. Both had generalized mild weakness, bilateral ptosis and facial weakness, and exaggerated lumbar lordosis. Muscle biopsies showed variation in fibrodiameter, internal nuclei, atrophy of type I fibers, focal loss of cross-striations, and cores of myofibrillar disruption with associated absence of mitochondria. The parents were first cousins. Arginine, L-DOPA, and propranolol stimulation resulted in normal growth hormone responses." +253400,"SMA is an autosomal recessive neuromuscular disorder characterized by progressive proximal muscle weakness and atrophy affecting the upper and lower limbs. By convention, SMA is classified into 4 types: I (SMA1; {253300}), II (SMA2; {253550}), III (SMA3), and IV ({271150}), by increasing age at onset and decreasing clinical severity. SMA1 is the most severe form of the disorder and often results in death in early childhood. SMA3, known as the juvenile form, tends to show onset in childhood or adolescence (summary by {13:Fraidakis et al., 2012})." +253550,"Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetric muscle weakness and atrophy (summary by {19:Wirth, 2000})." +253590,"In a Dutch family with no known consanguinity, {1:van Engelen et al. (1992)} identified a sister and 2 brothers out of a sibship of 4 who had adult-onset, predominantly distal, muscle weakness. The female proband also had epilepsy and a progressive spastic ataxic gait. Although the 2 younger brothers showed no signs of involvement of the nervous system, further studies demonstrated evidence of leukoencephalopathy in all 3 when studied by computed tomography and MRI. No abnormality was found on MRI in the asymptomatic sister or in the parents. Muscle biopsy showed no changes suggesting mitochondrial abnormality, including no defect in oxidative metabolism on biochemical study. An association between muscular dystrophy and leukoencephalopathy has been described in congenital muscular dystrophy of the Fukuyama type ({253800}). The relationship of this adult-onset form of muscular dystrophy with leukoencephalopathy is unclear." +253600,"Autosomal recessive limb-girdle muscular dystrophy-1 affects primarily the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures (summary by {30:Mercuri et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Limb-Girdle Muscular Dystrophy\n\nAutosomal recessive LGMD is genetically heterogeneous.\n\nLGMDR2 ({253601}), previously symbolized LGMD2B, is caused by mutation in the dysferlin gene (DYSF; {603009}) on 2p13. LGMDR3 ({608099}), previously symbolized LGMD2D, is caused by mutation in the alpha-sarcoglycan gene (SGCA; {600119}) on 17q21. LGMDR4 ({604286}), previously symbolized LGMD2E, is caused by mutation in the beta-sarcoglycan gene (SGCB; {600900}) on 4q12. LGMDR5 ({253700}), previously symbolized LGMD2C, is caused by mutation in the gamma-sarcoglycan gene (SGCG; {608896}) on 13q12. LGMDR6 ({601287}), previously symbolized LGMD2F, is caused by mutation in the delta-sarcoglycan gene (SGCD; {601411}) on 5q33. LGMDR7 ({601954}), previously symbolized LGMD2G, is caused by mutation in the TCAP gene ({604488}) on 17q12. LGMDR8 ({254110}), previously symbolized LGMD2H, is caused by mutation in the TRIM32 gene ({602290}) on 9q33. LGMDR9 ({607155}), previously symbolized LGMD2I, is caused by mutation in the FKRP gene ({606596}) on 19q13. LGMDR10 ({608807}), previously symbolized LGMD2J, is caused by mutation in the titin gene (TTN; {188840}) on 2q31. LGMDR11 ({609308}), previously symbolized LGMD2K, is caused by mutation in the POMT1 gene ({607423}) on 9q34. LGMDR12 ({611307}), previously symbolized LGMD2L, is caused by mutation in the ANO5 gene ({608662}) on 11p14. LGMDR13 ({611588}), previously symbolized LGMD2M, is caused by mutation in the FKTN gene ({607440}) on 9q31. LGMDR14 ({613158}), previously symbolized LGMD2N, is caused by mutation in the POMT2 gene ({607439}) on 14q24. LGMDR15 ({613157}), previously symbolized LGMD2O, is caused by mutation in the POMGNT1 gene ({606822}) on 1p34. LGMDR16 ({613818}), previously symbolized LGMD2P, is caused by mutation in the DAG1 gene ({128239}) on 3p21. LGMDR17 ({613723}), previously symbolized LGMD2Q, is caused by mutation in the PLEC1 gene ({601282}) on 8q24. LGMDR18 ({615356}), previously symbolized LGMD2S, is caused by mutation in the TRAPPC11 gene ({614138}) on 4q35. LGMDR19 ({615352}), previously symbolized LGMD2T, is caused by mutation in the GMPPB gene ({615320}) on 3p21. LGMDR20 ({616052}), previously symbolized LGMD2U, is caused by mutation in the ISPD gene (CRPPA; {614631}) on 7p21. LGMDR21 ({617232}), previously symbolized LGMD2Z, is caused by mutation in the POGLUT1 gene ({615618}) on 3q13. LGMDR22 ({254090}), also known as Ullrich congenital muscular dystrophy, is caused by mutation in one of the collagen VI genes ({120220}, {120240}, {120250}). LGMDR23 ({618138}) is caused by mutation in the LAMA2 gene ({156225}) on 6q22. LGMDR24 ({618135}) is caused by mutation in the POMGNT2 gene ({614828}) on 3p22. LGMDR25 ({616812}), previously symbolized LGMD2X, is caused by mutation in the BVES gene ({604577}) on 6q21. LGMDR26 ({618848}) is caused by mutation in the POPDC3 gene ({605824}) on 6q21. LGMDR27 ({619566}) is caused by mutation in the JAG2 gene ({602570}) on 14q32.\n\nSome forms of autosomal recessive LGMD were reclassified by {44:Straub et al. (2018)}. LGMD2R was reclassified as a form of myofibrillar myopathy (MFM1; {601419}). For forms previously designated LGMD2W and LGMD2Y, see {616827} and {617072}, respectively.\n\nFor a discussion of autosomal dominant LGMD, see LGMDD1 ({603511})." +253800,"MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({8:Godfrey et al., 2007}; {19:Muntoni and Voit, 2004}; {18:Muntoni et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670})." +254000,"{1:Bassoe (1956)} described a syndrome of congenital muscular dystrophy, infantile cataract, and hypogonadism (in females ovarian agenesis, in males Klinefelter syndrome). Seven persons living in a small, isolated Norwegian village were identified." +254090,"Ullrich congenital muscular dystrophy is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients manifest at birth and never achieve independent ambulation, whereas others maintain ambulation into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature (summary by {17:Kirschner, 2013}).\n\n<Subhead> Genetic Heterogeneity of Ullrich Congenital Muscular Dystrophy\n\nUCMD2 ({616470}) is caused by mutation in the COL12A1 gene ({120320}) on chromosome 6q." +254100,"In addition to the slowly progressive congenital myopathy described by Batten and Turner ({255300}), congenital muscular dystrophy producing arthrogryposis ({253900}), and that associated with mental retardation ({253800}), congenital and rapidly progressive muscular dystrophy was reported by {1:De Lange (1937)} in 3 members of each of 2 sibships related as second cousins. The condition described by {2:Short (1963)} and by {3:Wharton (1965)} may be the same." +254120,"{1:Cantu and Cuellar (1974)} described 7 sibs (4 females and 3 males) with congenital severe generalized muscular hypertonia during wakefulness. Fetal hypokinesia and pharyngoesophageal dyskinesia resulted. Death from cardiopulmonary distress and pneumonia occurred in each case between 2 and 4 months. Umbilical hernia was another feature. The parents were related. This disorder is distinct from hereditary hyperreflexia, a dominant ({149400})." +254130,"Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles. Muscle weakness and atrophy particularly affects the gastrocnemius and soleus muscles, and can later spread to involve the thigh and gluteal muscles. Patients showed impaired tiptoe standing, difficulty in climbing stairs, and difficulty walking, but usually remain ambulatory. Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by {10:Miyoshi et al., 1986}).\n\n<Subhead> Genetic Heterogeneity of Miyoshi Muscular Dystrophy\n\nMiyoshi muscular dystrophy is a genetically heterogeneous disorder: MMD2 ({613318}) has been mapped to chromosome 10p, and MMD3 ({613319}) is caused by mutation in the ANO5 gene ({608662}) on chromosome 11p14.\n\nSee also Welander myopathy ({604454}), an autosomal dominant form of late-onset distal myopathy." +254150,"{6:Whissell-Buechy and Amoore (1973)} suggested that inability to smell musk is an autosomal recessive trait. Musk pentadecalactone could not be smelled by about 7% of Caucasians, but this deficiency was not found in any Blacks. The authors stated that there were 27 discrete anosmias. {3:Kalmus and Seedburgh (1975)} confirmed the work of {6:Whissell-Buechy and Amoore (1973)}. They also found a highly correlated bimodality (presumed to be caused by the absence or inactivity of certain receptor sites) for another structurally different substance, musk ambrette. The thresholds for musk ketone showed no bimodality and a low correlation with the thresholds for the other two musks. The olfactory system has to discriminate between a large number of low molecular weight compounds in the air. The elucidation of how this is done is a challenge comparable to discovering how the immune system works. Odorant receptors appear to activate a cyclic nucleotide enzyme cascade, including a GTP-binding protein, analogous with the processes of hormone, neurotransmitter and visual reception ({4:Lancet and Pace, 1987}). Odorants may excite olfactory receptor cells by activating ion channels. This, in turn, may generate patterns of different neuronal activity which are relayed to the CNS and decoded as distinct odors (Anholt, et al. 1987). The guanine nucleotide-binding proteins (G or N proteins) are ubiquitous features of signal transduction mechanisms involving control of intracellular calcium and second messengers, regulation of cell growth, gating of ion channels, olfaction, vision, and possibly other sensory systems. Possibly because of their key role in signal transduction, G proteins have been singled out as targets by toxins from several types of bacteria, e.g., those causing diphtheria, cholera, and pertussis. These toxins have proved valuable in identifying the function of the different G proteins ({2:Dolphin, 1987}).\n\nIt is possible that specific anosmia or 'smell blindness' in the olfactory system is analogous to colorblindness in vision, where unequal crossing over between the highly homologous receptors within a cluster during gametogenesis results in the formation of new hybrid receptors and/or the deletion of receptor genes ({5:Reed, 1996}). The inheritance of specific anosmia to pentadecalactone as a recessive is consistent with mutation or loss of the receptor gene for this particular odorant." +254190,"{1:Triggs et al. (1992)} reported the cases of 3 brothers and a sister, aged 22-43 years, with congenital ptosis, external ophthalmoplegia, proximal muscle weakness, and fatigability unresponsive to acetylcholinesterase inhibitors. Repetitive nerve stimulation showed a significant compound muscle action potential area decrement at 2 or 3 Hz. Nerve conduction studies and concentric needle electromyography were normal. Assessment of individual endplates using single fiber electromyography (SFEMG) with intramuscular axonal microstimulation showed a pattern consistent with a postsynaptic defect of neuromuscular transmission. Edrophonium, an acetylcholinesterase inhibitor, eliminated the decremental response to repetitive nerve stimulation but caused no significant clinical improvement." +254200,"Myasthenia gravis is an autoimmune disease in which antibodies bind to acetylcholine receptors or to functionally related molecules in the postsynaptic membrane at the neuromuscular junction. The antibodies induce weakness of skeletal muscles, which is the sole disease manifestation. The weakness can be generalized or localized, is more proximal than distal, and nearly always includes eye muscles, with diplopia and ptosis. The pattern of involvement is usually symmetric, apart from the eye involvement, which is often markedly asymmetric and involves several eye muscles. The weakness typically increases with exercise and repetitive muscle use (fatigue) and varies over the course of a day and from day to day, often with nearly normal muscle strength in the morning (summary by {11:Gilhus, 2016})." +254210,"Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by {3:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +254300,"Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors should be avoided (summary by {5:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +254400,"Mycosis fungoides is a malignant T-cell lymphoma of the skin, first reported (and named) by {1:Alibert (1835)}.\n\nSezary syndrome is a leukemic variant of mycosis fungoides defined by erythroderma with greater than 80% of the skin showing redness, adenopathy and greater than 1,000 circulating Sezary cells/microliter with a CD4+CD26- or CD4+CD7- phenotype. Sezary cells have a type 2 helper T cell cytokine profile. Sezary syndrome has a median overall survival time of only 2.4 years in patients with Sezary cells at a density of greater than 10,000 cells/microliter or 5.4 years in patients with 1,000-10,000 Sezary cells/microliter. Mycosis fungoides and Sezary syndrome are the most common cutaneous T-cell lymphomas. Sezary syndrome can arise de novo or can appear following years of chronic mycosis fungoides. Both are thought to arise from clonal expansion of CD4+ helper T cells responding to chronic antigen stimulation (summary by {7:Wang et al., 2015})." +254500,"Multiple myeloma is a neoplastic plasma cell disorder characterized by clonal proliferation of malignant plasma cells in the bone marrow microenvironment, monoclonal protein in the blood or urine, and associated organ dysfunction ({35:Palumbo and Anderson, 2011})." +254770,"Juvenile myoclonic epilepsy (EJM, JME) is a subtype of idiopathic generalized epilepsy (EIG; see {600669}), affecting up to 26% of all individuals with EIG. Individuals with EJM have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks usually occur in the morning ({9:Janz and Durner, 1997}).\n\n<Subhead> Genetic Heterogeneity of Juvenile Myoclonic Seizures\n\nSusceptibility to EJM can be conferred by variation in several other genes: EJM5 ({611136}), by variation in the GABRA1 gene ({137160}) on 5q34; EJM6 (see {607682}), by variation in the CACNB4 gene ({601949}) on 2q23; EJM7 (see {613060}), by variation in the GABRD gene ({137163}) on 1p36; EJM8 (see {607628}), by variation in the CLCN2 gene ({600570}) on 3q27; and EJM10 ({617924}), by variation in the ICK gene ({612325}) on chromosome 6p12.\n\nIn addition, EJM loci have been identified by linkage analysis: EJM2 (see {604827}) on 15q14, EJM3 ({608816}) on 6p21, EJM4 ({611364}) on 5q12-q14, and EJM9 ({614280}) on 2q33-q36." +254780,"The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, difficulties in school work, myoclonic jerks, generalized seizures, and often visual hallucination. The myoclonus, seizures, and hallucinations gradually worsen and become intractable. This is accompanied by progressive cognitive decline, resulting in dementia. About 10 years after onset, affected individuals are in near-continuous myoclonus with absence seizures, frequent generalized seizures, and profound dementia or a vegetative state. Histologic studies of multiple tissues, including brain, muscle, liver, and heart show intracellular Lafora bodies, which are dense accumulations of malformed and insoluble glycogen molecules, termed polyglucosans (review by {24:Ramachandran et al., 2009}).\n\nFor a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800)." +254800,"Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Although it is considered a progressive myoclonic epilepsy, it differs from other forms in that it appears to be progressive only in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilizes in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline (summary by {43:Ramachandran et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Progressive Myoclonic Epilepsy\n\nProgressive myoclonic epilepsy refers to a clinically and genetically heterogeneous group of neurodegenerative disorders, usually with debilitating symptoms, although severity varies. See also EPM1B ({612437}), caused by mutation in the PRICKLE1 gene ({608500}); Lafora disease (EPM2A/B; {254780}), caused by mutation in either the EPM2A ({607566}) or the NHLRC1 ({608072}) gene; EPM3 ({611726}), caused by mutation in the KCTD7 gene (611725); EPM4 ({254900}), caused by mutation in the SCARB2 gene ({602257}); EPM6 ({614018}), caused by mutation in the GOSR2 gene ({604027}); EPM7 ({616187}), caused by mutation in the KCNC1 gene ({176258}); EPM8 ({616230}), caused by mutation in the CERS1 gene ({606919}); EPM9 ({616540}), caused by mutation in the LMNB2 gene ({150341}); EPM10 ({616640}), caused by mutation in the PRDM8 gene ({616639}); EPM11 ({618876}), caused by mutation in the SEMA6B gene ({608873}); and EPM12 ({619191}), caused by mutation in the SLC7A6OS gene ({619192}).\n\nA form of progressive myoclonic epilepsy, formerly designated EPM5, is included in {607459} with the primary designation of spinocerebellar ataxia with epilepsy (SCAE).\n\nOther disorders characterized by progressive myoclonic epilepsy include the neuronal ceroid lipofuscinoses (see, e.g., CLN1 ({256730}); sialidosis ({256550}); MERFF ({545000}); and DRPLA ({125370}), among others (reviews by {43:Ramachandran et al., 2009} and {7:de Siqueira, 2010}).)" +254900,"The action myoclonus-renal failure syndrome is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Cognitive function is preserved ({2:Badhwar et al., 2004}). Some patients do not develop renal failure ({7:Dibbens et al., 2009}).\n\nFor a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A ({254800})." +254940,"Carey-Fineman-Ziter syndrome-1 (CFZS1) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. More variable features include dysmorphic facial features, brain abnormalities, and intellectual disability. It has been postulated that many clinical features in CFZS1 may be secondary effects of muscle weakness during development or brainstem anomalies (summary by {8:Pasetti et al., 2016}).\n\n{4:Di Gioia et al. (2017)} determined that CFZS1 represents a slowly progressive congenital myopathy resulting from a defect in myoblast fusion.\n\n<Subhead> Genetic Heterogeneity of Carey-Fineman-Ziter Syndrome\n\nCarey-Fineman-Ziter syndrome-2 (CFZS2) is caused by mutation in the MYMX gene ({619912}) on chromosome 6p21." +254950,"The rare combination of muscle weakness with electrical myotonia but without clinical myotonia has been reported in acid maltase deficiency and in centronuclear myopathy. {1:Juguilon et al. (1982)} described 3 adult patients with profound selective muscle wasting and weakness, electrical myotonia, and unusual findings on muscle biopsy: vacuoles containing hematoxylinophilic granules, and in 30% of type I fibers, demarcation of the sarcoplasm into lobules due apparently to reorganization of myofibrillar elements. Two of the patients were sibs. The sister, aged 28 years, was well until age 18 years when difficulty climbing stairs and frequent tripping were noted. At age 19, discovery of myotonic discharges on EMG led to the diagnosis of dystrophia myotonica. The brother, aged 30, had similar history and findings. In both, the quadriceps femoris muscles were spared and no cataracts were found on slit-lamp examination." +255100,"Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by {3:Olsen et al., 2016})." +255110,"Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The myopathic form presents most frequently in children or young adults with muscle pain with or, in most cases, without myoglobinuria with elevation of serum creatine kinase precipitated by strenuous exercise, cold, fever, or prolonged fasting. Severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death (summary by {7:Deschauer et al., 2005} and {21:Longo et al., 2006}).\n\nSee also the lethal neonatal ({608836}) and infantile ({600649}) forms of the disorder, which are also caused by mutation in the CPT2 gene." +255120,"CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood ({2:Bougneres et al., 1981})" +255125,"Hereditary myopathy with lactic acidosis is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype (summary by {12:Sanaker et al., 2010})." +255140,"{3:Shy and Gonatas (1964)} observed an 8-year-old child with hypotonia and proximal weakness. Cytochemical and electron microscopic studies of muscle showed large, bizarre mitochondria. Vascular smooth muscle, leukocytes, and intramyal nerves did not show these changes. The patient's basal metabolic rate was normal. This and the morphologic findings were different from those in the case of Luft et al. (see hypermetabolism due to defect in mitochondria; {238800}). A sister died at 18 months of age from what was diagnosed as Werdnig-Hoffmann disease. {2:D'Agostino et al. (1968)} described sisters, aged 8 and 15, with a limb-girdle type of myopathy and growth retardation. Mitochondria of excessive size and number were found. This was, then, both megaconial and pleoconial. The parents were not related ({1:Bray, 1973})." +255300,{1:Batten (1910)} and later {3:Turner (1949)} and {2:Turner and Lees (1962)} provided 50 years' observations on a family in which 6 sibs presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy. The parents were not related. +255310,"Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {8:Clarke and North (2003)} stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found." +255320,"Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable ({5:Ferreiro and Fardeau, 2002}).\n\nPatients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death ({10:McKie et al., 2014}). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores ({8:Jungbluth et al., 2007}), congenital fiber-type disproportion (CFTD) ({12:Monnier et al., 2009}), and centronuclear myopathy ({17:Wilmshurst et al., 2010})." +255500,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {2:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +255700,"Autosomal recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness ({8:Koch et al., 1993}). Becker disease is more common and more severe than Thomsen disease." +255900,"{1:Hall (1965)} described 5 families in which 14 cases of myxedema occurred in addition to the 5 probands. In 1 of these families, a case of thyrotoxicosis was also observed, and in each of 2 families a relative had nontoxic goiter. A sixth proband had a daughter with thyrotoxicosis. In the families of 32 other patients with myxedema, no thyroid dysfunction was detected. Environmental factors, such as viral infection, cannot be excluded in the causation of such familial aggregation. However, the findings were considered compatible with sex-influenced recessive inheritance and also with the previous suggestion of a genetic relationship of myxedema to hyperthyroidism and to nontoxic goiter. In 1 family, 'bilateral inheritance of thyroid disease' was demonstrated." +255990,"In 4 sibs (one named Nathalie) of a Dutch family reported by {1:Cremers et al. (1975)}, deafness and cataract were associated with muscular atrophy, retardation in growth and sexual development, and electrocardiographic abnormalities. One was male and 3 female. One had Perthes disease and one had Scheuermann disease. Two were young adults at the time of study." +255995,"Bailey-Bloch congenital myopathy, also known as Native American myopathy (NAM), is an autosomal recessive disorder characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. It was first reported in the Lumbee Indian tribe in North Carolina (summary by {5:Stamm et al., 2008})." +256000,"Leigh syndrome is a clinically and genetically heterogeneous disorder resulting from defective mitochondrial energy generation. It most commonly presents as a progressive and severe neurodegenerative disorder with onset within the first months or years of life, and may result in early death. Affected individuals usually show global developmental delay or developmental regression, hypotonia, ataxia, dystonia, and ophthalmologic abnormalities, such as nystagmus or optic atrophy. The neurologic features are associated with the classic findings of T2-weighted hyperintensities in the basal ganglia and/or brainstem on brain imaging. Leigh syndrome can also have detrimental multisystemic affects on the cardiac, hepatic, gastrointestinal, and renal organs. Biochemical studies in patients with Leigh syndrome tend to show increased lactate and abnormalities of mitochondrial oxidative phosphorylation (summary by {16:Lake et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Leigh Syndrome\n\nLeigh syndrome may be a clinical presentation of a primary deficiency caused by genes in any of the mitochondrial respiratory chain complexes: complex I deficiency (see {252010}), complex II deficiency (see {252011}), complex III deficiency (see {124000}), complex IV deficiency (cytochrome c oxidase; see {220110}), and complex V deficiency (see {604273}) (summary by {16:Lake et al., 2015}).\n\nMutations in genes encoding mitochondrial tRNA proteins have also been identified in patients with Leigh syndrome: see MTTV ({590105}), MTTK ({590060}), MTTW ({590095}), and MTTL1 ({590050}).\n\nLeigh syndrome may also be caused by mutations in components of the pyruvate dehydrogenase complex (e.g., DLD, {238331} and PDHA1, {300502}).\n\nDeficiency of coenzyme Q10 ({607426}) can present as Leigh syndrome.\n\nSome forms of combined oxidative phosphorylation deficiency can present as Leigh syndrome (see, e.g., {617664})." +256020,"Focal segmental glomerulosclerosis-10 (FSGS10) is an autosomal dominant kidney disease characterized by isolated glomerulopathy without extrarenal manifestations. In particular, affected individuals do not have other signs of NPS. The renal disease is highly variable in severity and pathology, even within the same family. Most patients present in the first decades of life with proteinuria and hematuria, although onset of symptoms can manifest at any age, including late adulthood. Some patients progress to end-stage renal disease, whereas others have a stable disease course. Light microscopic analysis of renal biopsies shows a constellation of glomerular abnormalities, including focal segmental glomerulosclerosis (FSGS), minimal change disease (MCD), and, rarely, immune complex nephropathy. Electron microscopy characteristically shows an irregular thickening of the glomerular basement membrane (GBM) with electron-lucent areas containing accumulated bundles of type III collagen fibrils. The collagen deposition usually occurs in endothelial cells of the GBM; partial effacement of podocyte foot processes may also be present. These specific pathologic findings are similar to those observed in NPS patients with nephropathy. However, these findings may not always be present, which may make the diagnosis challenging (summary by {3:Hall et al., 2017}, {6:Lei et al., 2020}; review by {4:Harita et al., 2017}).\n\nFor a discussion of genetic heterogeneity of FSGS, see FSGS1 ({603278})." +256030,"Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by {3:Lehtokari et al., 2014}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800}).\n\nMutations in the NEB gene are the most common cause of nemaline myopathy ({4:Lehtokari et al., 2006})." +256040,"This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by {1:Agarwal et al., 2010}; {6:Kitamura et al., 2011}; {2:Arima et al., 2011}).\n\nThis disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both {9:Nakajo (1939)} and {10:Nishimura et al. (1950)} contributed to the original phenotypic descriptions.\n\n<Subhead> Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome\n\nSee also PRAAS2 ({618048}), caused by mutation in the POMP gene ({613386}) on chromosome 13q12; PRAAS3 ({617591}), caused by mutation in the PSMB4 gene ({602177}) on chromosome 1q21; PRAAS4 ({619183}), caused by mutation in the PSMG2 gene ({609702}) on chromosome 18p11; and PRAAS5 ({619175}), caused by mutation in the PSMB10 gene ({176847}) on chromosome 16q22." +256100,"Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. It is the most frequent genetic cause of renal failure in children. NPHP may be combined with extrarenal manifestations, such as liver fibrosis, situs inversus, or cardiac malformations. When nephronophthisis is combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome (SLSN1; {266900}); when it is combined with cerebellar vermis hypoplasia, the disorder is known as Joubert syndrome (JBTS1; {213300}); and when it is combined with multiple developmental and neurologic abnormalities, the disorder is often known as Meckel-Gruber syndrome (MKS1; {249000}). Because most NPHP gene products localize to the cilium or its associated structures, nephronophthisis and the related syndromes have been termed 'ciliopathies' (summary by {18:Hoff et al., 2013}).\n\nClinical features of familial juvenile nephronophthisis include anemia, polyuria, polydipsia, isosthenuria, and death in uremia. {30:Simms et al. (2009)} provided a detailed review of nephronophthisis, including a discussion of clinical features and molecular genetics. {33:Stokman et al. (2021)} provided a review of NPHP, including clinical features, pathophysiology, and therapeutic approaches.\n\n<Subhead> Genetic Heterogeneity of Nephronophthisis\n\nNPHP2 ({602088}) is caused by mutation in the INVS gene ({243305}) on chromosome 9q31; NPHP3 ({604387}) is caused by mutation in the NPHP3 gene ({608002}) on chromosome 3q22; NPHP4 ({606966}) is caused by mutation in the NPHP4 gene ({607215}) on chromosome 1p36; NPHP7 ({611498}) is caused by mutation in the GLIS2 gene ({608539}) on chromosome 16p13; NPHP9 ({613824}) is caused by mutation in the NEK8 gene ({609799}) on chromosome 17q11; NPHP11 ({613550}) is caused by mutation in the TMEM67 gene ({609884}) on chromosome 8q22; NPHP12 ({613820}) is caused by mutation in the TTC21B gene ({612014}) on chromosome 2q24; NPHP13 ({614377}) is caused by mutation in the WDR19 gene ({608151}) on chromosome 4p14; NPHP14 ({614844}) is caused by mutation in the ZNF423 gene ({604557}) on chromosome 16; NPHP15 ({614845}) is caused by mutation in the CEP164 gene ({614848}) on chromosome 11q; NPHP16 ({615382}) is caused by mutation in the ANKS6 gene ({615370}) on chromosome 9q22; NPHP18 ({615862}) is caused by mutation in the CEP83 gene ({615847}) on chromosome 12q22; NPHP19 ({616217}) is caused by mutation in the DCDC2 gene ({605755}) on chromosome 6p22; and NPHP20 ({617271}) is caused by mutation in the MAPKBP1 gene ({616786}) on chromosome 15q13.\n\nTwo disorders have been phenotypically described as 'NPHP-like' due to variable unique features: NPHPL1 ({613159}), caused by mutation in the XPNPEP3 gene ({613553}) on chromosome 22q13, and NPHPL2 ({619468}), caused by mutation in the SLC41A1 gene ({610801}) on chromosome 1q32." +256120,"Among the children of a consanguineous Pakistani family, {1:Edwards et al. (1989)} found renal failure without hematuria, hyperparathyroidism due to parathyroid hyperplasia, and sensorineural deafness. Of 6 sibs, 5 were affected in some way: 1 brother had deafness and renal failure only; a brother and a sister had deafness, renal failure, and hyperparathyroidism; a sister had deafness and hyperparathyroidism only; and a brother had deafness only. {1:Edwards et al. (1989)} concluded that the condition is distinct from Alport syndrome ({301050}), which usually includes hematuria, is not associated with hyperparathyroidism, and is X-linked in its best studied form, although there is an autosomal dominant ({104200}) and possibly an autosomal recessive ({203780}) form." +256150,"{5:Maroteaux et al. (1978)} proposed this term for a type of oligosaccharidosis in which a glomerular nephropathy develops early and causes death at a young age. The clinical and radiologic features are dysmorphic facies, visceral storage disease, early and severe mental retardation, and skeletal abnormalities of a type often seen in this group of diseases. Foam cells are found in the bone marrow and, late in the illness, a cherry red spot is present on funduscopy. The condition is inherited as an autosomal recessive. The leukocytes are deficient in alpha-(2-6) neuraminidase, a defect found also in the sialidoses ({256550}) and in galactosialidosis ({256540}), which have clinical differences. {1:Aylsworth et al. (1979)} observed a case of nephrosialidosis. Congenital ascites, early-onset pericardial effusion, nephrosis, and greater overall severity of clinical features distinguished the disorder from other forms of neuraminidase deficiency. {6:Roth et al. (1988)} gave follow-up on a patient reported by {2:Kelly and Graetz (1977)} to have isolated acid neuraminidase deficiency with the phenotype of type 2 infantile sialidosis. An unusual feature was the abrupt onset and fulminant course of the nephrotic syndrome from which she died at the age of 9 years and 8 months. The kidneys showed epithelial cell damage most marked in the glomeruli and proximal tubules, with stored material in the form of polar sialyloligosaccharides of high molecular weight. Nephrosis was reported by {7:Sperl et al. (1990)} in a brother and sister with infantile sialic acid storage disease ({269920}). Nephrosis has also been described in the Hurler syndrome ({607014}) ({8:Taylor et al., 1986}) but this must be a rare complication of that particular lysosomal storage disease.\n\nIt is by no means clear that nephrosialidosis is due to a mutation at a different locus from that represented by entry {256550}." +256200,"{1:Braun and Bayer (1962)} described a sibship of 12 containing 5 affected brothers. Two brothers, 5 sisters and both parents were normal. Parental consanguinity was denied. Whereas 2 of the affected sibs had urinary tract and digital anomalies, bifid uvula, nephrosis and deafness, 1 brother was deaf and had digital anomalies only, and 2 brothers had nephrosis only. The digital anomaly consisted of short and bifid distal phalanges of thumbs and big toes, for which no photographs or roentgenograms were published. Deafness was conductive, with no malformations of the middle ear bone (one of the affected sibs was autopsied). A female relative was known to be deaf. The author suggested either autosomal recessive or X-linked dominant inheritance (the mother had renal complications and hypertension during her pregnancies) of this syndrome, which was not previously described in the literature." +256300,"The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. Approximately 20% of affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure (summary by {10:Fuchshuber et al., 1996}).\n\nNephrotic syndrome type 1 (NPHS1) is characterized by prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome apparent at birth with rapid progression to end-stage renal failure ({19:Kestila et al., 1998}).\n\nBecause of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature.\n\n<Subhead> Genetic Heterogeneity of Nephrotic Syndrome and Focal Segmental Glomerulosclerosis\n\nNephrotic syndrome and FSGS are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also NPHS2 ({600995}), caused by mutation in the podocin gene ({604766}); NPHS3 ({610725}), caused by mutation in the PLCE1 gene ({608414}); NPHS4 ({256370}), caused by mutation in the WT1 gene ({607102}); NPHS5 ({614199}), caused by mutation in the LAMB2 gene ({150325}); NPHS6 ({614196}), caused by mutation in the PTPRO gene ({600579}); NPHS7 ({615008}), caused by mutation in the DGKE gene ({601440}); NPHS8 ({615244}), caused by mutation in the ARHGDIA gene ({601925}); NPHS9 ({615573}), caused by mutation in the COQ8B gene ({615567}); NPHS10 ({615861}), caused by mutation in the EMP2 gene ({602334}); NPHS11 ({616730}), caused by mutation in the NUP107 gene ({607617}); NPHS12 ({616892}), caused by mutation in the NUP93 gene ({614351}); NPHS13 ({616893}), caused by mutation in the NUP205 gene ({614352}); NPHS14 ({617575}), caused by mutation in the SGPL1 gene ({603729}); NPHS15 ({617609}), caused by mutation in the MAGI2 gene ({606382}); NPHS16 ({617783}), caused by mutation in the KANK2 gene ({614610}), NPHS17 ({618176}), caused by mutation in the NUP85 gene ({170285}); NPHS18 ({618177}), caused by mutation in the NUP133 gene ({607613}); NPHS19 ({618178}), caused by mutation in the NUP160 gene ({607614}); NPHS20 ({301028}), caused by mutation in the TBC1D8B gene ({301027}); NPHS21 ({618594}) caused by mutation in the AVIL gene ({613397}); NPHS22 ({619155}), caused by mutation in the NOS1AP gene ({605551}); NPHS23 ({619201}), caused by mutation in the KIRREL1 gene ({607428}); and NPHS24 ({619263}), caused by mutation in the DAAM2 gene ({606627}).\n\nSee also FSGS1 ({603278}), caused by mutation in the ACTN4 gene ({604638}); FSGS2 ({603965}), caused by mutation in the TRPC6 gene ({603652}); FSGS3 ({607832}), associated with variation in the CD2AP gene ({604241}); FSGS4 ({612551}), mapped to chromosome 22q12; FSGS5 ({613237}), caused by mutation in the INF2 gene ({610982}); FSGS6 ({614131}), caused by mutation in the MYO1E gene ({601479}); FSGS7 ({616002}), caused by mutation in the PAX2 gene ({167409}); FSGS8 ({616032}), caused by mutation in the ANLN gene ({616027}); and FSGS9 ({616220}), caused by mutation in the CRB2 gene ({609720})." +256370,"Nephrotic syndrome, a malfunction of the glomerular filter, leads to proteinuria, edema, and, in steroid-resistant nephrotic syndrome, end-stage renal disease (ESRD). Renal histopathology in NPHS4 due to WT1 mutations most often shows diffuse mesangial sclerosis (DMS), but can also show focal segmental glomerulosclerosis (FSGS). Both of these terms refer to pathologic findings and may be associated with the same clinical phenotype, namely nephrotic syndrome (review by {7:Schumacher et al., 1998}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300})." +256450,"Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur ({51:Thornton et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Hyperinsulinemic Hypoglycemia\n\nHHF2 ({601820}) is caused by mutation in the KCNJ11 gene ({600937}) on chromosome 11p15. HHF3 ({602485}) is caused by mutation in the glucokinase gene (GCK; {138079}) on chromosome 7p13. HHF4 ({609975}) is caused by mutation in the HADH gene ({601609}) on chromosome 4q25. HHF5 ({609968}) is caused by mutation in the insulin receptor gene (INSR; {147670}) on chromosome 19p13. HHF6 ({606762}) is caused by mutation in the GLUD1 gene ({138130}) on chromosome 10q23. HHF7 ({610021}) is caused by mutation in the SLC16A1 ({600682}) on chromosome 1p13. There is evidence of further genetic heterogeneity of HHF." +256500,"Netherton syndrome is a rare and severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic 'bamboo' shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia. Life-threatening complications are frequent during the neonatal period, including hypernatremic dehydration, hypothermia, extreme weight loss, bronchopneumonia, and sepsis. During childhood, failure to thrive is common as a result of malnutrition, metabolic disorders, chronic erythroderma, persistent cutaneous infections, or enteropathy (summary by {2:Bitoun et al., 2002})." +256520,"Neu-Laxova syndrome is an autosomal recessive lethal multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, central nervous system anomalies (lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum), limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears (summary by {11:Manning et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Neu-Laxova Syndrome\n\nNLS2 ({616038}) is caused by mutation in the PSAT1 gene ({610936}) on chromosome 9q21." +256540,"Galactosialidosis (GSL) is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase ({611458}) and neuraminidase ({608272}), secondary to a defect in protective protein/cathepsin A (PPCA). All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and rare occurrence of neurologic signs. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival. The majority of reported patients belong to the juvenile/adult group and are mainly of Japanese origin (summary by {7:d'Azzo et al., 2001})." +256550,"Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by {27:Lowden and O'Brien, 1979}). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease ({604369}) is a form of 'free' sialic acid disease.\n\n<Subhead> Classification\n\n{27:Lowden and O'Brien (1979)} provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis." +256600,"Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by {8:Gregory et al., 2009})." +256690,"{1:Freire-Maia et al. (1982)} described a 'new' syndrome in 2 brothers with nonconsanguineous parents. Features were mental retardation, highly abnormal EEG without seizures, vertical groove in tip of nose ('bifid' nose), prominent forehead, peculiarly shaped ears, short stature, and triphalangeal thumbs. One of the brothers had unilateral renal agenesis.\n\n{3:Rump et al. (1997)} reported a 39-year-old Dutch female with severe mental retardation and unusual facies, including brachycephaly, telecanthus, a grooved nasal tip, ptosis, and malformed ears; she also had broad halluces, congenital heart and renal defects, and an abnormal EEG with petit mal seizures. Features not previously seen in the NFDR syndrome included camptodactyly of the fourth fingers, dysplastic phalanges, ankylosis of the tarsal and metatarsal bones, and dysplastic hips.\n\n{2:Megarbane (2001)} reported 2 Lebanese sisters, whose parents were from the same small village, who had upslanting palpebral fissures, hypertelorism, ptosis, a broad, bifid nasal tip, high-arched palate, mental retardation, and abnormal EEG. The older sister also had double maxillary canines and skeletal anomalies, with partial syndactyly of the right third and fourth fingers, left thumb longer than the right, and genu valgum. {2:Megarbane (2001)} noted that the sisters did not have some of the features seen in the patients previously described by {1:Freire-Maia et al. (1982)} and {3:Rump et al. (1997)}, such as hypotonia, abnormal ears, hyperextensible joints, broad halluces, and renal or heart defects, and suggested that this might represent a new autosomal recessive disorder." +256700,"Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all cancer deaths in children. Some patients inherit a genetic predisposition to neuroblastoma due to germline mutations, whereas others develop sporadic disease that may result from either germline or somatic mutations. Neuroblastoma tumors are derived from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system ({52:Roberts et al., 1998}; {20:Eng, 2008}). Histopathologically, neuroblastoma can range in type from the most aggressive form, neuroblastoma, composed entirely of immature neural precursor cells, to ganglioneuroma, composed entirely of mature neural tissue. The most important prognostic factor for patients with neuroblastoma is the extent of the tumor at the time of diagnosis ({52:Roberts et al., 1998}).\n\nNeuroblastoma can also be part of cancer-prone syndromes, such as paragangliomas (see, e.g., PGL4; {115310}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Neuroblastoma\n\nSusceptibility to neuroblastoma is genetically heterogeneous and is conferred by mutation in the PHOX2B gene ({603851}) on chromosome 4p12 (NBLST2; {613013}) and by mutation in the ALK gene ({105590}) on chromosome 2p23 (NBLST3; {613014}).\n\nLoci implicated in the development of neuroblastoma include 6p (NBLST4; {613015}), 2q35 (NBLST5; {613016}), and 1q21 (NBLST6; {613017})." +256710,"Elejalde neuroectodermal melanolysosomal syndrome is a rare autosomal recessive disorder characterized by silvery-gray hair and severe dysfunction of the central nervous system, present from infancy or early childhood and consisting of severe hypotonia, seizures, and impaired intellectual development. Skin may be hypopigmented with bronzing after sun exposure. Microscopy of hair reveals large granules of melanin unevenly distributed in the hair shaft. Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present ({6:Elejalde et al., 1979}; {5:Duran-McKinster et al., 1999}).\n\nIt has been proposed that, in at least some cases, Elejalde neuroectodermal melanolysosomal syndrome and Griscelli syndrome type 1 (GS1; {214450}) represent the same entity; see below. GS1 is caused by mutation in the MYO5A gene ({160777})." +256720,"{1:Niemann et al. (1976)} described 4 sibs and a fifth unrelated patient with a disorder characterized clinically by quadriplegia, amyotrophy, peripheral neuropathy, severe mental retardation, subluxation of the hips and osteoporosis, with multiple spontaneous fractures. Death occurred between ages 2 and 34 months. Autopsy in 3 showed multiple system involvement of the spinal cord and cerebellum, coarse cerebral gyri and marked reduction in volume of white matter. No precisely similar cases were found in the literature." +256730,"The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure ({24:Mole et al., 2005}).\n\n{39:Zeman and Dyken (1969)} referred to these conditions as the 'neuronal ceroid lipofuscinoses.' {5:Goebel (1995)} provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children.\n\n{24:Mole et al. (2005)} provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses.\n\n<Subhead> Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis\n\nSee also CLN2 ({204500}), caused by mutation in the TPP1 gene ({607998}) on chromosome 11p15; CLN3 ({204200}), caused by mutation in the CLN3 gene ({607042}) on 16p12; CLN4 ({162350}), caused by mutation in the DNAJC5 gene ({611203}) on 20q13; CLN5 ({256731}), caused by mutation in the CLN5 gene ({608102}) on 13q22; CLN6A ({601780}) and CLN6B ({204300}), both caused by mutation in the CLN6 gene ({606725}) on 15q21; CLN7 ({610951}), caused by mutation in the MFSD8 gene ({611124}) on 4q28; CLN8 ({600143}) and the Northern epilepsy variant of CLN8 ({610003}), both caused by mutation in the CLN8 gene ({607837}) on 8p23; CLN10 ({610127}), caused by mutation in the CTSD gene ({116840}) on 11p15; CLN11 ({614706}), caused by mutation in the GRN gene ({138945}) on 17q21; CLN13 ({615362}), caused by mutation in the CTSF gene ({603539}) on 11q13; and CLN14 ({611726}), caused by mutation in the KCTD7 gene ({611725}) on 7q11.\n\nCLN9 ({609055}) has not been molecularly characterized.\n\nA disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS; {606693})." +256731,"The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure ({7:Mole et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730})." +256810,"Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression ({10:Spinazzola et al., 2008}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 ({603041})." +256850,"Giant axonal neuropathy is a chronic polyneuropathy of childhood that affects both the peripheral and central nervous systems and is accompanied by characteristically kinky hair and unique posture of legs (see illustrations by {4:Berg et al., 1972}; {16:Igisu et al., 1975}; {9:Carpenter et al., 1974}). Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsy are the pathologic hallmark of this neurodegenerative disorder ({26:Tazir et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Giant Axonal Neuropathy\n\nSee also GAN2 ({610100}), caused by mutation in the DCAF8 gene ({615820}) on chromosome 1q23." +256860,{1:Dyck and Ohta (1975)} classified four types of hereditary sensory neuropathy. {2:Robinson et al. (1977)} and {3:Staal and Mechelse (1978)} reported examples of hereditary sensory neuropathy apparently distinct from any of the four. Staal and Mechelse's report concerned 2 brothers with late-onset sensory ataxia without ulcerating acropathy or autonomic abnormality. The older patient had oculomotor dysfunction and extensor plantar responses. +256870,"{1:Isaacs and Badenhorst (1977)} described 2 brothers, aged 12 and 14 years, with progressive weakness, particularly of the legs, dating from infancy. They complained of severe pains in the hands and feet, aggravated by heat, hot weather or a fever. Muscular atrophy and sensory loss were evident. Biopsies showed tomaculous (sausage shaped) swellings affecting the myelin sheaths of nerves." +257000,{1:Duffy et al. (1968)} described a 6-year-old boy with a neurovisceral storage disease with curvilinear bodies demonstrated intracellularly by electron microscopy. The diagnosis was possible in vitam by rectal or other visceral biopsy. Chemical studies showed this is not a gangliosidosis. +257100,"{1:Andrews et al. (1960)} described 2 affected sibs. The parents were not known to be related. It is not entirely certain that this is an entity separate from that listed as agranulocytosis ({202700}). It is possible that some cases of neonatal neutropenia are due to fetomaternal immunization involving neutrophil-specific antigens ({2:Lalezari and Radel, 1974})." +257150,"Neutrophil actin dysfunction (NAD) is an immunologic disorder characterized by early onset of recurrent infections, including oral, skin, and respiratory. Organisms are mainly bacterial and fungal. Patients tend to develop fever and hepatosplenomegaly with continued infection; bone marrow transplant is an effective treatment. The disorder results from impaired neutrophil mobility and chemotaxis associated with abnormal actin dynamics. Although a causative mutation has not been identified, studies have shown an association between the disorder and increased levels of a 47-kD F-actin-binding protein known as LSP1 ({153432}) and decreased levels of an unknown 89-kD protein (summary by {3:Coates et al., 1991} and {4:Howard et al., 1998})." +257200,"Niemann-Pick disease types A and B are caused by an inherited deficiency of acid sphingomyelinase activity. The clinical phenotype ranges from a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age (type A) to a later-onset nonneurologic form (type B) that is compatible with survival into adulthood. Since intermediate cases also have been reported, the disease is best regarded as a single entity with a clinical spectrum (summary by {26:Schuchman, 2007}).\n\n{14:Knudson and Kaplan (1962)} suggested that 3 types of the disorder can be distinguished: infantile cerebral, juvenile cerebral, and noncerebral. Later, 5 forms of Niemann-Pick disease were distinguished. Four were delineated by {5:Crocker (1961)}: the classical infantile form (type A), the visceral form (type B), the subacute or juvenile form (type C; {257220}), and the Nova Scotian variant (type D; see {257220}). The fifth, the adult form (type E; see {607616}), was described by {29:Terry et al. (1954)} and {17:Lynn and Terry (1964)}. {24:Schneider et al. (1978)} used the designation type F (see {607616}) for a form characterized in 2 patients by a thermolabile enzyme. Most patients fall into Crocker's group A, with death before age 3 years.\n\n{26:Schuchman (2007)} provided a detailed review of Niemann-Pick disease type A, including clinical management." +257220,"Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene ({601015}), referred to as type C2 ({607625}). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by {74:Vance, 2006}).\n\nHistorically, {19:Crocker (1961)} delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described." +257300,"Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by {3:Hanks et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Mosaic Variegated Aneuploidy Syndrome\n\nSee also MVA2 ({614114}), caused by mutation in the CEP57 gene ({607951}) on chromosome 11q21, and MVA3 ({617598}), caused by mutation in the TRIP13 gene ({604507}) on chromosome 5p15." +257350,"Fetal cystic hygromas are congenital malformations of the lymphatic system appearing as single or multiloculated fluid-filled cavities, most often in the neck. They are thought to arise from failure of the lymphatic system to communicate with the venous system in the neck. They often progress to hydrops and cause fetal death ({3:Chervenak et al., 1983})." +257400,"For a general phenotypic description and a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 ({310700}).\n\nFor evidence of autosomal recessive inheritance of an isolated variety of nystagmus, see review by {1:Waardenburg (1962)}, and pedigrees in {2:Waardenburg (1963)}." +257500,"{1:Falsetti et al. (1964)} described brother and sister with a syndrome characterized by obesity, cyanosis, somnolence, muscular twitching, and periodic breathing. See {164160} for a discussion of the genetics of obesity." +257550,"Congenital oculomotor apraxia, first reported by {3:Cogan (1952)}, is characterized by (1) defective or absent horizontal voluntary eye movements, and (2) defective or absent horizontal ocular attraction movements.\n\nOculomotor apraxia occurs in ataxia-telangiectasia ({208900}). Also see ataxia-oculomotor apraxia syndrome ({208920}; {606002}). Oculomotor apraxia has been observed in the neuronopathic form of Gaucher disease (type III; {231000}) ({5:Erikson and Wahlberg, 1985}; {6:Gross-Tsur et al., 1989})." +257790,"{3:Preus et al. (1983)} described 2 sibs, born of consanguineous Italian parents, who had an oculocerebral hypopigmentation syndrome consisting of growth retardation, dolichocephaly, cataracts, highly arched palate, small and widely spaced teeth, generalized hypopigmentation, psychomotor retardation, and hypochromic anemia. {2:Patton et al. (1987)} concluded that this syndrome was distinct from the oculocerebral hypopigmentation syndrome described by {1:Cross et al. (1967)}; see {257800}." +257910,"Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy (summary by {4:Pellegrino et al., 2001})." +257920,"The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by {10:Rooryck et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of 3MC Syndrome\n\nAlso see 3MC syndrome-2 (3MC2; {265050}), caused by mutation in the COLEC11 gene ({612502}), and 3MC syndrome-3 (3MC3; {248340}), caused by mutation in the COLEC1 gene ({607620})." +257960,"{1:Cecatto-De-Lima et al. (1988)} described a brother and sister, the offspring of first cousins, with retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. The brother and sister belonged to a sibship of 13. The hair anomaly in the female proband consisted of generalized hypotrichosis with sparse scalp, axillary, and pubic hair as well as scanty eyelashes and sparse eyebrows in the distal two-thirds. Scanning electron microscopy showed structural changes in the hairs. The finger- and toenails were fragile and brittle. The teeth were few and carious with extensive extractions. The skin was dry and scaling. The deciduous teeth had been small, pointed, and widely spaced, but they had erupted at the normal time. The hypotrichosis in the brother was less severe. His retinitis pigmentosa was also less severe, but this was probably because he was younger than his sister." +257980,"Odontoonychodermal dysplasia (OODD) is an autosomal recessive disorder characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, hyperkeratosis of the palms and soles, hypo- and hyperhidrosis of the skin, and atrophic patches on the face (summary by {1:Adaimy et al., 2007}; {7:Yu et al., 2019})." +258040,"{2:Carey et al. (1978)} gave the name OEIS complex to a combination of defects comprising omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. This rare complex is thought to represent the most severe end of a spectrum of birth defects, the exstrophy-epispadias sequence, which, in order of increasing severity, includes phallic separation with epispadias, pubic diastasis, exstrophy of the bladder ({600057}), cloacal exstrophy, and OEIS complex. Very few instances of recurrence of anomalies in this cluster have been reported." +258100,"Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by {5:Fuchs et al., 1995}).\n\n<Subhead> Genetic Heterogeneity of Oguchi Disease\n\nOguchi disease-2 (CSNBO2) is caused by mutation in the rhodopsin kinase gene (GRK1; {180381}) on chromosome 13q34." +258150,"Spermatogenic arrest during meiosis is a cause of infertility. The histologic picture of meiotic arrest is rather constant. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n but are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules, degenerate, and are easily distinguishable from normal spermatocytes by their partially condensed chromosomes. Although the cause of infertility in patients with meiotic arrest often remains unidentified, this histologic picture can be observed in patients with nonidiopathic infertility as well, such as in the case of microdeletions of the Y chromosome, chromosomal abnormalities, and cryptorchidism, suggesting that different causal factors can result in the same effect (summary by {5:Luetjens et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Spermatogenic Failure\n\nSee SPGF2 ({108420}), caused by mutation in the MSH4 gene ({602105}) on chromosome 1p31; SPGF3 ({606766}), caused by mutation in the SLC26A8 gene ({608480}) on chromosome 6p21; SPGF4 ({270960}), caused by mutation in the SYCP3 gene ({604759}) on chromosome 12q23; SPGF5 ({243060}), caused by mutation in the AURKC gene ({603495}) on chromosome 19q13; SPGF6 ({102530}), caused by mutation in the SPATA16 gene ({609856}) on chromosome 3q26; SPGF7 ({612997}), caused by mutation in the CATSPER gene ({606389}) on chromosome 11q13; SPGF8 ({613957}), caused by mutation in the NR5A1 gene ({184757}) on chromosome 9q33; SPGF9 ({613958}), caused by mutation in the DPY19L2 gene ({613893}) on chromosome 12q14; SPGF10 ({614822}), caused by mutation in the SEPT12 gene ({611562}) on chromosome 16p13; SPGF11 ({615081}), caused by mutation in the KLHL10 gene ({608778}) on chromosome 17p21; SPGF12 ({615413}), caused by mutation in the NANOS1 gene ({608226}) on chromosome 10q26; SPGF13 ({615841}), caused by mutation in the TAF4B gene ({601689}) on chromosome 18q11; SPGF14 ({615842}), caused by mutation in the ZMYND15 gene ({614312}) on chromosome 17p13; SPGF15 ({616950}), caused by mutation in the SYCE1 gene ({611486}) on chromosome 10q26; SPGF16 ({617187}), caused by mutation in the SUN5 gene ({613942}) on chromosome 20q11; SPGF17 ({617214}), caused by mutation in the PLCZ1 gene ({608075}) on chromosome 12p12; SPGF18 ({617576}), caused by mutation in the DNAH1 gene ({603332}) on chromosome 3p21; SPGF19 ({617592}), caused by mutation in the CFAP43 gene ({617558}) on chromosome 10q25; SPGF20 ({617593}), caused by mutation in the CFAP44 gene ({617559}) on chromosome 3q13; SPGF21 ({617644}), caused by mutation in the BRDT gene ({602144}) on chromosome 1p22; SPGF22 ({617706}), caused by mutation in the MEIOB gene ({617670}) on chromosome 16p13; SPGF23 ({617707}), caused by mutation in the TEX14 gene ({605792}) on chromosome 17q22; SPGF24 ({617959}), caused by mutation in the CFAP69 gene ({617949}) on chromosome 7q21; SPGF25 ({617960}), caused by mutation in the TEX15 gene ({605795}) on chromosome 8p12; SPGF26 ({617961}), caused by mutation in the TSGA10 gene ({607166}) on chromosome 2q11; SPGF27 ({617965}), caused by mutation in the AK7 gene ({615364}) on chromosome 14q32; SPGF28 ({618086}), caused by mutation in the FANCM gene ({609644}) on chromosome 14q21; SPGF29 ({618091}), caused by mutation in the SPINK2 gene ({605753}) on chromosome 4q12; SPGF30 ({618110}), caused by mutation in the TDRD9 gene ({617963}) on chromosome 14q32; SPGF31 ({618112}), caused by mutation in the PMFBP1 gene ({618085}) on chromosome 16q22; SPGF32 ({618115}), caused by mutation in the SOHLH1 gene ({610224}) on chromosome 9q34; SPGF33 ({618152}), caused by mutation in the WDR66 gene ({618146}) on chromosome 12q24; SPGF34 ({618153}), caused by mutation in the FSIP2 gene ({615796}) on chromosome 2q32; SPGF35, caused by mutation in the QRICH2 gene ({618304}) on chromosome 17q25; SPGF36 ({618420}), caused by mutation in the PPP2R3C gene ({615902}) on chromosome 14q13; SPGF37 ({618429}), caused by mutation in the TTC21A gene ({611430}) on chromosome 3p22; SPGF38 ({618433}), caused by mutation in the ARMC2 gene ({618424}) on chromosome 6q21; SPGF39 ({618643}), caused by mutation in the DNAH17 gene ({610063}) on chromosome 17q25; SPGF40 ({618664}), caused by mutation in the CFAP65 gene ({614270}) on chromosome 2q35; SPGF41 ({618670}), caused by mutation in the CFAP70 gene ({618661}) on chromosome 10q22; SPGF42 ({618745}), caused by mutation in the TTC29 gene ({618735}) on chromosome 4q31; SPGF43 ({618751}), caused by mutation in the SPEF2 gene ({610172}) on chromosome 5p13; SPGF44 ({619044}), caused by mutation in the CEP112 gene ({618980}) on chromosome 17q24; SPGF45 ({619094}), caused by mutation in the DNAH2 gene ({603333}) on chromosome 17p13; SPGF46 ({619095}), caused by mutation in the DNAH8 gene ({603337}) on chromosome 6p21; SPGF47 ({619102}), caused by mutation in the DZIP1 gene ({608671}) on chromosome 13q32; SPGF48 ({619108}), caused by mutation in the M1AP gene ({619098}) on chromosome 2p13; SPGF49 ({619144}), caused by mutation in the CFAP58 gene ({619129}) on chromosome 10q25; SPGF50 ({619145}), caused by mutation in the XRCC2 gene ({600375}) on chromosome 7q36; SPGF51 ({619177}), caused by mutation in the CFAP91 gene ({609910}) on chromosome 3q13; SPGF52 ({619202}), caused by mutation in the C14ORF39 gene ({617307}) on chromosome 14q23; SPGF53 ({619258}), caused by mutation in the ACTL9 gene ({619251}) on chromosome 19p13; SPGF54 ({619379}), caused by mutation in the CATIP gene ({619387}) on chromosome 2q35; SPGF55 ({619380}), caused by mutation in the SPAG17 gene ({616554}) on chromosome 1p12; SPGF56 ({619515}), caused by mutation in the DNAH10 gene ({605884}) on chromosome 12q24; SPGF57 ({619528}), caused by mutation in the PNLDC1 gene ({619529}) on chromosome 6q25; SPGF58 ({619585}), caused by mutation in the IFT74 gene ({608040}) on chromosome 9p21; SPGF59 ({619645}), caused by mutation in the TERB2 gene ({617131}) on chromosome 15q21; SPGF60 ({619646}), caused by mutation in the TERB1 gene ({617332}) on chromosome 16q22; SPGF61 ({619672}), caused by mutation in the STAG3 gene ({608489}) on chromosome 7q22; SPGF62 ({619673}), caused by mutation in the RNF212 gene ({612041}) on chromosome 4p16; SPGF63 ({619689}), caused by mutation in the RPL10L gene ({619655}) on chromosome 14q21; SPGF64 ({619696}), caused by mutation in the FBXO43 gene ({609110}) on chromosome 8q22; SPGF65 ({619712}), caused by mutation in the DNHD1 gene ({617277}) on chromosome 11p15; SPGF66 ({619799}), caused by mutation in the ZPBP gene ({608498}) on chromosome 7p12; SPGF67 ({619803}), caused by mutation in the CCDC62 gene ({613481}) on chromosome 12q24; SPGF68 ({619805}), caused by mutation in the C2CD6 gene ({613481}) on chromosome 2q33; SPGF69 ({619826}), caused by mutation in the GGN gene ({609966}) on chromosome 19q13; and SPGF70 ({619828}), caused by mutation in the PDHA2 gene ({179061}) on chromosome 4q22; SPGF71 ({619831}), caused by mutation in the ZSWIM7 gene ({614535}) on chromosome 17p12; SPGF72 ({619867}), caused by mutation in the WDR19 gene ({608151}) on chromosome 4p14; SPGF73 ({619878}), caused by mutation in the MOV10L1 gene ({605794}) on chromosome 22q13; SPGF74 ({619937}), caused by mutation in the MSH5 gene ({603382}) on chromosome 6p21; and SPGF75 ({619949}), caused by mutation in the SHOC1 gene ({618038}) on chromosome 9q31.\n\nX-linked forms of spermatogenic failure include SPGFX1 ({305700}), SPGFX2 ({309120}), SPGFX3 ({301059}), and SPGFX4 ({301077}).\n\nY-linked forms of spermatogenic failure include SPGFY1 ({400042}) and SPGFY2 ({415000}).\n\nSpermatogenic failure can also result from underlying endocrinologic disorders (see, e.g., hypogonadotropic hypogonadism, {146110}) or ciliary dyskinesias (see, e.g., CILD1, {244400})." +258315,"Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay ({9:Elcioglu et al., 2004}; {2:Albano et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Omodysplasia\n\nAlso see omodysplasia-2 (OMOD2; {164745}), an autosomal dominant form of the disorder in which abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities ({3:Baxova et al., 1994})." +258320,"{1:Czeizel (1983)} described a lethal syndrome in 3 daughters of normal unrelated parents: one died at 2 months with omphalocele, posterior cleft palate, and uterus bicornis; the second died at 4 months with omphalocele, uvula duplex, and hydrocephalus internus; the third died at 1 year with omphalocele and cleft palate." +258400,"Total ophthalmoplegia involves total paralysis of all extra- and intraocular muscles. If one or more of the external muscles, including the levator palpebrae, is not affected, the condition is known as incomplete or partial ophthalmoplegia. If only 1 nerve is affected, the palsy is named after that nerve (see, e.g., abducens palsy, {100200}) ({4:Waardenburg, 1963})." +258450,"Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({9:Filosto et al., 2003}; {13:Luoma et al., 2004}).\n\n{7:Drachman (1975)} gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' ({6:Drachman, 1968}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA Deletions\n\nSee also PEOB2 ({616479}), caused by mutation in the RNASEH1 gene ({604123}) on chromosome 2p25; PEOB3 ({617069}), caused by mutation in the TK2 gene ({188250}) on chromosome 16q21; PEOB4 ({617070}), caused by mutation in the DGUOK gene ({601465}) on chromosome 2p13; and PEOB5 ({618098}), caused by mutation in the TOP3A gene ({601243}) on chromosome 17p11." +258470,"Among 6 offspring of first-cousin Japanese parents, {2:Tamura et al. (1974)} described 2 with external ophthalmoplegia with ptosis and involvement of cranial nerves and skeletal muscles. Muscle biopsies showed marked morphologic alterations of mitochondria. Only external ophthalmoplegia was found in 1 sib, and a fourth had died presumably of the full disorder. The disorder began with ptosis in the late teens. {1:Okamoto et al. (1981)} described the ophthalmoplegia-plus syndrome in brother and sister. Computerized tomography scan showed diffuse, low-density deep cerebral white material. Prednisone was effective in restoring strength in the limbs. The disorder described by {2:Tamura et al. (1974)} has similarities to the Kearns-Sayre syndrome ({530000}), appears to represent a mitochondrial cytopathy, and may be mitochondrially inherited. The parental consanguinity suggests, however, that a nuclear mutation and autosomal recessive inheritance are involved." +258480,"Opsismodysplasia (OPSMD) is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death in utero or secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges (summary by {2:Below et al., 2013} and {5:Fradet and Fitzgerald, 2017})." +258500,"For a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500})." +258501,"3-Methylglutaconic aciduria type III (MGCA3) is a neuroophthalmologic syndrome consisting of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction, and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and of 3-methylglutaric acid is increased ({1:Anikster et al., 2001}). The phenotype is similar to Behr syndrome ({210000}) and may in some cases represent the same disorder ({11:Sheffer et al., 1992}; {9:Lerman-Sagie, 1995}).\n\nFor a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I ({250950})." +258700,"{4:Muller and Zeman (1965)} reported 2 brothers with degeneration of the optic, cochlear, dentate and medial lemniscal systems. The clinical picture could be correlated. Seven other cases are now known. Blindness with optic atrophy, deafness, little or no speech, spasticity, and death before age 10 were features. Cases were also reported by {3:Meyer (1949)}, {2:Levy (1951)} and {1:Hasaerts (1957)}. Progressive visual loss and spastic quadriplegia have their onset in infancy. Mental deterioration and hearing loss are also progressive. Death occurs in late childhood." +258800,"{1:Bosma et al. (1967)} studied a condition in which, because of sensory problem in the mouth, the patient remains infantile in oral configuration and function. The 'labial gate' remains infantile with drooling, and nipple (suckle) feeding only is practiced, even in the adult. One expects the labial gate function to develop by age 22 to 24 months. Two-point discrimination is defective in the mouth. The patients appear to have facial diplegia. The smile is transverse, as in dysautonomia. Often the patient stands with the head back to prevent drooling, and in some instances the salivary glands have been removed. Minor neurologic defects may be demonstrable elsewhere, such as a sensory type of incoordination in the hands. One 19-year-old female has married. No familial cases have in fact been identified but few cases are known." +258840,"In a male and female offspring of healthy first-cousin Pakistani parents, {1:Clayton-Smith and Donnai (1989)} described a similar pattern of unusual facial features, limb malformations, and postnatal-onset ichthyosis. The male had a small mouth with thin upper lip and a midline groove in the lower lip. In both children the fingers were tapering and lacked distal flexion creases. The daughter had a large gap between the second and third fingers." +258870,"Gyrate atrophy of the choroid and retina (GACR) due to deficiency of ornithine aminotransferase is clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence (summary by {19:Peltola et al., 2002}).\n\nSee {238970} for another hyperornithinemia syndrome." +258900,"Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by {25:Webster et al., 2001}).\n\n{1:Bailey (2009)} stated that only 2 cases of orotic aciduria without megaloblastic anemia (OAWA) had been reported." +259050,"Primrose syndrome consists of recognizable facial features, macrocephaly, mental retardation, enlarged and calcified external ears, sparse body hair, and distal muscle wasting (summary by {2:Carvalho and Speck-Martins, 2011}).\n\nPatients with a deletion syndrome involving 3q13.31 ({615433}) exhibit features overlapping those of Primrose syndrome." +259100,"Autosomal recessive primary hypertrophic osteoarthropathy-1 (PHOAR1) is a rare familial disorder characterized by digital clubbing, osteoarthropathy, and acroosteolysis, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease (summary by {26:Uppal et al., 2008}; {16:Radhakrishnan et al., 2020}).\n\nSecondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm ({26:Uppal et al., 2008}).\n\n{25:Touraine et al. (1935)} recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes.\n\n<Subhead> Genetic Heterogeneity\n\nPHOAR2 ({614441}) is caused by mutation in the SLCO2A1 gene ({601460}) on chromosome 3q22.\n\nFamilies with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD; {167100})." +259200,"Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by {3:Sabharwal, 2009})." +259410,"{1:Buyse and Bull (1978)} described 3 infant sibs (2 males and a female) who were stillborn or who died within the first hour after birth. The parents were normal and not consanguineous. The clinical findings included microcephaly, bilateral cataracts, and multiple prenatal bone fractures. The brain was small, with poorly developed sulci and gyri. The calvaria was soft, and there was foreshortening and bowing of the lower limbs. Blue sclerae were noted in 2 of the 3 infants." +259440,"Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by {6:van Dijk et al., 2009})." +259450,"Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis ({10:McPherson and Clemens, 1997}).\n\n<Subhead> Genetic Heterogeneity of Bruck Syndrome\n\nBruck syndrome-2 ({609220}) is caused by homozygous mutation in the PLOD2 gene ({601865}) on chromosome 3q24. {17:Van der Slot et al. (2003)} stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome." +259550,"{1:Kaye and Arnold (1977)} observed almost simultaneous onset of symptoms of osteoid osteoma in 2 brothers, aged 17 and 12 years. A viral or other etiology was suggested." +259600,"{15:Zankl et al. (2007)} defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome ({277950}), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features." +259610,"{1:Petit and Fryns (1986)} described an apparently autosomal recessive form of distal osteolysis in the son and daughter of unaffected consanguineous parents. The hands and feet showed severe resorption abnormalities with absence of the distal and middle phalanges. There was distal muscular hypertrophy, and the skin of the volar part of the hands was loose without other peculiarities. The osteolysis had begun at an early age and was rapidly progressive. Changes were most pronounced in the phalanges but occurred also in the distal ulnar and radial epiphyses. Joint limitation and flexion contractures developed in the elbows and knees. X-ray changes were evident at age 7 years, and by age 9 almost complete disruption of the distal and middle phalanges of all fingers and toes had occurred. In addition to the osteolysis the patients were short in stature, had mild to moderate mental deficiency but satisfactory social adaptation, and characteristic facies: maxillary hypoplasia, relative exophthalmos, and broad nasal tip. The surviving sister, aged 57 years, was 146 cm tall. Neurologic examination was normal. {1:Petit and Fryns (1986)} suggested that the same facial features may be found in patients with multicentric osteolysis or carpal and tarsal osteolysis with autosomal dominant inheritance." +259650,{1:Thomas (1964)} reported bilateral osteoma of the middle ear in a 10-year-old boy and unilateral osteoma in his 6-year-old sister. There was no history of deafness in other relatives. +259680,"Chronic recurrent multifocal osteomyelitis (CRMO) is a rare pediatric autoinflammatory bone disease, the primary symptom of which is bone pain due to sterile osteomyelitis. It is often associated with psoriasis or inflammatory bowel disease ({2:Cox et al., 2017}).\n\nMultifocal osteomyelitis associated with pustulosis has also been described (see {612852})." +259690,"{1:Kaler et al. (1992)} described 2 Mennonite sisters with a syndrome of sparse hair, osteopenia, mental retardation, minor facial abnormalities, joint laxity, and hypotonia. Their asymptomatic consanguineous parents had 6 other offspring, 3 of whom died in infancy of type II osteogenesis imperfecta and 3 of whom were normal. No abnormality was detected in the collagen synthesized by cultured fibroblasts from these 2 sisters or their parents. {1:Kaler et al. (1992)} concluded that their disorder is a new autosomal recessive syndrome distinct from type II OI ({166210}). The family was derived from a 300-member Mennonite community in southern Maryland. They pictured 1 of the 3 sibs who died at the age of 7 weeks of a condition diagnosed as OI on clinical and radiographic grounds." +259700,"Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by {1:Aker et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Osteopetrosis\n\nOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 ({611490}), which is caused by mutation in the CLCN7 gene ({602727}) on chromosome 16p13, and OPTB5 ({259720}), which is caused by mutation in the OSTM1 gene ({607649}) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; {259710}) is caused by mutation in the TNFSF11 gene ({602642}) on chromosome 13q14, an intermediate form (OPTB6; {611497}) is caused by mutation in the PLEKHM1 gene ({611466}) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7; {612301}) is caused by mutation in the TNFRSF11A gene ({603499}) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8; {615085}) is caused by mutation in the SNX10 gene ({614780}) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; {259730}) is caused by mutation in the CA2 gene ({611492}) on chromosome 8q21.\n\nAutosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634})." +259720,"Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life ({7:Quarello et al., 2004})." +259750,"Idiopathic osteoporosis of childhood or adolescence without blue sclerae and other stigmata of osteogenesis imperfecta is occasionally observed and sometimes more than one sib is affected. This condition, which may be a distinct recessively inherited entity, was delineated by {4:Dent and Friedman (1965)} and was reviewed by {3:Dent (1969)}. The condition described by {2:Chowers et al. (1962)} may fall into this category, but the presence of amino aciduria and low serum uric acid makes a renal tubular defect of the Fanconi type likely. {7:Marder et al. (1982)} demonstrated low plasma calcitriol (1,25-dihydroxycholecalciferol) and normal serum calcifediol (25-hydroxycholecalciferol) in a 12-year-old girl with idiopathic juvenile osteoporosis. Deficiency of calcitonin has been suspected in cases of IJO, but exogenous calcitonin, in the experience of {5:Jackson et al. (1988)}, had no benefit. Although IJO heals spontaneously in conjunction with sexual maturation, exogenous estrogen and androgen treatment has not been beneficial. {8:Teotia et al. (1979)} described 4 affected children and tabulated the features of 27 other reported patients." +259775,"Raine syndrome (RNS) is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death within the first few weeks of life, although there have been some reports of survival into childhood. Radiographic studies show a generalized increase in the density of all bones and a marked increase in the ossification of the skull. The increased ossification of the basal structures of the skull and facial bones underlies the characteristic facial features, which include narrow prominent forehead, proptosis, depressed nasal bridge, and midface hypoplasia. Periosteal bone formation is also characteristic of this disorder and differentiates it from osteopetrosis and other known lethal and nonlethal osteosclerotic bone dysplasias. The periosteal bone formation typically extends along the diaphysis of long bones adjacent to areas of cellular soft tissue (summary by {15:Simpson et al., 2009}). Some patients survive infancy ({15:Simpson et al., 2009}; {5:Fradin et al., 2011})." +259900,"Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. Affected individuals have decreased or absent AGXT activity and a failure to transaminate glyoxylate, which causes the accumulated glyoxylate to be oxidized to oxalate. This overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues, with pathologic sequelae ({39:Takada et al., 1990}; {8:Danpure et al., 1989}; {45:Williams et al., 2009})\n\n<Subhead> Genetic Heterogeneity of Primary Hyperoxaluria\n\nType II primary hyperoxaluria (HP2; {260000}) is caused by mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (GRHPR; {604296}) on chromosome 9. Type III primary hyperoxaluria (HP3; {613616}) is caused by mutation in the mitochondrial dihydrodipicolinate synthase-like gene (DHDPSL; {613597}) on chromosome 10q24." +260005,"5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS; {601002}) or 5-oxoprolinase (OPLAH; {614243}). GSS deficiency ({266130}) is best characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria (summary by {2:Calpena et al., 2013})." +260100,"A polymorphism of alpha-2-globulin was demonstrated by {2:MacLaren et al. (1966)}, using the Ouchterlony method of immunodiffusion and antiserum produced in sheep. About 18% of males and young females are positive. All women in late pregnancy and women taking the contraceptive agent Enovid are positive. The designation Pa was given for this reason and means 'pregnancy associated.' Cord bloods are negative. Family data best fitted the view that Pa-1-positivity is an autosomal recessive trait. Thus, this system is a distinctly unusual one from several points of view. Haptoglobin and the Gc protein are also alpha-2-globulins. {1:Dunston and Gershowitz (1973)} showed that Xh ({314800}) and Pa-1 are identical, that X-linkage is ruled out by findings in 2 females, and that this is probably not a mendelian polymorphism." +260130,"For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}." +260200,"{1:Winkelman (1932)} described 2 brothers with dysarthria, progressive extrapyramidal rigidity, and early-onset retinitis pigmentosa that led to blindness. The pyramidal tracts were, by both clinical and pathologic evidence, unaffected, and there were no sensory changes. One brother died at age 24 years. Destruction of the pallida and reticular portions of the substantia nigra was demonstrated. X-linked inheritance is, of course, possible." +260350,"Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by {3:Amundadottir et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Pancreatic Cancer\n\nSomatic mutations in pancreatic cancer occur in the KRAS ({190070}), CDKN2A ({600160}), MADH4 ({600993}), TP53 ({191170}), ARMET ({601916}), STK11 ({602216}), ACVR1B ({601300}), and RBBP8 ({604124}) genes.\n\nSusceptibility loci for pancreatic cancer include PNCA1 ({606856}), related to mutation in the PALLD gene on chromosome 4q32 ({608092}); PNCA2 ({613347}), related to mutation in the BRCA2 gene on chromosome 13q12 ({600185}); PNCA3 ({613348}), related to mutation in the PALB2 gene on chromosome 16p12 ({610355}); PNCA4 ({614320}), related to mutation in the BRCA1 gene on chromosome 17q21 ({113705}); and PNCA5 ({618680}), related to mutation in the RABL3 gene on chromosome 3q13 ({618542}).\n\n<Subhead> Occurrence of Pancreatic Cancer in Other Disorders\n\nSeveral familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see {120435}); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome ({175200}); the melanoma-pancreatic cancer syndrome ({606719}), caused by mutations in CDKN2A ({600160}); von Hippel-Lindau syndrome ({193300}), ataxia-telangiectasia ({208900}) ({41:Swift et al., 1976}), and juvenile polyposis syndrome ({174900}).\n\nPatients with hereditary pancreatitis ({167800}) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1; {276000}) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% ({27:Lowenfels et al., 1997})." +260400,"Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and varying degrees of marrow dysfunction with cytopenias. Myelodysplastic syndrome and acute myeloid leukemia occur in up to one third of patients (summary by {12:Dror and Freedman, 1999}).\n\nFor a review of Shwachman-Diamond syndrome, see {14:Dror and Freedman (2002)}.\n\n<Subhead> Genetic Heterogeneity of Shwachman-Diamond Syndrome\n\nShwachman-Diamond syndrome-2 (SDS2; {617941}) is caused by mutation in the EFL1 gene ({617538}) on chromosome 15q25." +260470,"Subacute sclerosing panencephalitis (SSPE) is a fatal neurodegenerative disease caused by persistent central nervous system infection with the measles virus (summary by {3:Torisu et al., 2004})." +260480,"This combination was described in brother and sister ({3:Waldram et al., 1975}). In both, leukocyte-migration was inhibited in the presence of bile antigen, suggesting an immune mechanism. The sicca complex is also known as the Sjogren syndrome; familial incidence is known ({270150}). The finding of {2:Prochazka et al. (1990)} may be relevant. In 100% of 29 patients with primary sclerosing cholangitis, they found the HLA-DRw52a antigen, which is normally present in 35% of the population (relative risk, 109.5). Primary sclerosing cholangitis may be difficult to differentiate from primary biliary cirrhosis ({109720}). Although HLA haplotypes have been studied in more than 5,000 diseases, only in this and 3 other diseases has it been found that essentially all patients have the same HLA antigen: B27 in ankylosing spondylitis ({106300}), DR4 in pemphigus vulgaris ({169610}), and DR2 in narcolepsy ({161400})." +260500,"Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by {5:Safaee et al., 2013})." +260530,"{1:Cat et al. (1974)} described a new syndrome in 8 persons in 7 Brazilian families living in a restricted area of southern Parana. Two were brothers and the parents of another were first cousins. Beginning at the age of 2 or 3 months, the skin of the entire body becomes progressively thicker. All joints gradually become frozen and movement of the chest and abdomen is severely restricted. Respiratory insufficiency may lead to death. The disorder is probably distinguishable from the stiff-skin syndrome ({184900}) by the severe growth retardation, more malignant course, and probable mode of inheritance." +260565,"PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral edema (summary by {1:Anttonen et al., 2017})." +260570,"{1:Murros and Konttinen (1974)} described a family in which 4 sisters suffered from recurrent attacks of abdominal pain and fever, consistent with the diagnosis of familial Mediterranean fever ({249100}). The 4 sisters had a Pelger-Huet-like abnormality of the polymorphs. Of the neutrophils, 45 to 66% were unsegmented; 26 to 46% of eosinophils were unsegmented. The mother of the sisters, one of their brothers, and the son of one of the sisters showed an intermediate defect (13 to 19% unsegmented neutrophils, normally segmented eosinophils) and no attacks. The father of the sisters and his sibs were all unavailable for study, but had no attacks. A brother and sister of the sister and the daughter of one of them had normal leukocytes and no attacks. Possibly this is a new autosomal recessive syndrome, with expression only in the leukocytes in heterozygotes." +260600,"Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by {7:Feinstein et al., 2010}).\n\nThe disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD; {312080}), which is caused by mutation in the PLP1 gene ({300401}). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}." +260900,"{2:Genecin (1959)} described young adult brothers with asymptomatic chronic pericardial effusion. In one the pericardial fluid contained abundant cholesterol crystals. The other brother also had mild polycythemia, strikingly tortuous retinal arterioles, and localized areas of cutaneous flushing. 'Cholesterol pericarditis' was first described by {1:Alexander (1919)}, who compared the pericardial fluid to 'scintillating gold paint.' {3:Stanley et al. (1980)} described a patient with longstanding cholesterol pericarditis with recurrent pericardial effusions who went on to develop constrictive calcific pericarditis." +260910,"Perifolliculitis capitis abscedens et suffodiens is a chronic inflammatory disease of the scalp characterized by the presence of large and small nodules that suppurate and intercommunicate by sinus formation. It may be more frequent in black males than in others (summary by {2:McMullan and Zeligman, 1956})." +260950,"Chronic periodontitis, formerly called adult periodontitis, is the most frequently occurring form of periodontitis and is characterized by slowly progressing alveolar bone destruction and attachment loss. Although chronic periodontitis is most prevalent in adults and has a slow progression, it can occur in children and adolescents and may have periods of rapid progression ({1:Armitage, 1999})." +260970,"{1:Appenzeller et al. (1980)} described 2 sisters and a brother with this combination of abnormalities, which appears to be unique. Xenografts into immunologically paralyzed mice showed that the Schwann cells from the patient could myelinate regenerating mouse nerves. Thus, the defect presumably resides in the axon." +261000,"Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia ({170900}).\n\nSee also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor ({261100})." +261100,"Imerslund-Grasbeck syndrome-1 (IGS1) is an autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. Treatment with vitamin B12 results in sustained clinical improvement of the anemia and resolution of the neurologic symptoms, if present. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN ({605799})/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF; {609342}). In the kidney, AMN/CUBN interacts with the endocytic receptor megalin (LRP2; {600073}), which is important for the reabsorption of plasma proteins (summary by {15:Grasbeck, 2006}, {30:Storm et al., 2011}, {31:Storm et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Imerslund-Grasbeck Syndrome\n\nSee also IGS2 ({618882}), caused by mutation in the AMN gene ({605799}) on chromosome 14q32.\n\nCongenital pernicious anemia ({261000}), a distinct disorder with overlapping features, is caused by mutation in the GIF (CBLIF) gene ({609342}). Adult pernicious anemia ({170900}) is another distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor." +261400,"From studies in the Navajo, {1:Spuhler (1950)} concluded that absence is recessive. The muscle is a dorsiflexor of the foot. When the subject stands with the toes in sharp dorsiflexion, the tendons of the peroneus tertius become prominent over the cuboid bone just outside the most lateral tendon of the extensor digitorum longus." +261515,"D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency ({264470}), caused by mutation in the ACOX1 gene ({609751}) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD; {300100}), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) ({23:Watkins et al., 1995}).\n\nDBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. {8:McMillan et al. (2012)} proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1; {233400}). {12:Pierce et al. (2010)} noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed." +261540,"Patients with Peters-plus syndrome exhibit ocular features, systemic malformations, and variable degrees of developmental delay. Ocular abnormalities involve the anterior chamber, and in most patients consist of Peters anomaly, which is characterized by corneal clouding and iridolenticulocorneal adhesions. Growth retardation, short stature, and brachydactyly appear to be present in all patients, and developmental delay is frequent, whereas external ear anomalies, cleft lip and/or palate, and cardiac and genitourinary malformations are less common ({1:Dassie-Ajdid et al., 2009})." +261550,"The persistent mullerian duct syndrome is characterized by the persistence of mullerian derivatives, uterus and tubes, in otherwise normally virilized males (summary by {12:Knebelmann et al., 1991})." +261560,"{1:Pfeiffer et al. (1977)} reported brother and sister with this combination. The brother also had congenital aortic stenosis. The ears were cup-shaped. The palpebral fissures were narrow, with epicanthal folds." +261575,"{1:Powell et al. (1993)} described 2 sibs with vertebral, radial, congenital heart, and ear defects. The second born had limb pterygia and meningomyelocele. Some of the abnormalities in these 2 sibs occur in the VATER association; however, distinguishing these cases were pterygia, meningomyelocele, and probable autosomal recessive inheritance. {1:Powell et al. (1993)} proposed the acronym PHAVER syndrome for pterygia, heart defects, autosomal recessive inheritance, vertebral defects, ear anomalies, and radial defects. The sibs, a male and a female, were the offspring of young, healthy, nonconsanguineous parents. The girl had correction of aortic coarctation at the age of 2 months. The disorder in the male was diagnosed in utero and the pregnancy was interrupted." +261590,"Phenformin is a biguanide that was formerly used as an oral hypoglycemic agent in maturity-onset diabetes. It is rapidly absorbed and metabolized exclusively by p-hydroxylation to a single metabolite, 4-hydroxyphenformin. The unchanged drug and its metabolite are cleared from the blood virtually exclusively by the kidneys. About two-thirds of an oral dose is excreted in the urine within 8 hours as the unchanged drug plus its metabolite. {1:Shah et al. (1985)} found that about 9% of a London population had a defect in p-hydroxylation of phenformin, inherited as an autosomal recessive. Phenformin was withdrawn from the market because it was often associated with lactic acidosis which could be fatal. Persons with the metabolic defect may have been more susceptible to this complication. {1:Shah et al. (1985)} reviewed the evidence that the same genetic defect may be responsible for both impaired debrisoquine oxidation ({124030}) and impaired phenformin 4-hydroxylation." +261600,"Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH; {612349}), an enzyme that catalyzes the hydroxylation of phenylalanine to tyrosine, the rate-limiting step in phenylalanine catabolism. If undiagnosed and untreated, phenylketonuria can result in impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia ({186:Zurfluh et al., 2008}).\n\nSee {148:Scriver (2007)} and {13:Blau et al. (2010)} for detailed reviews of PKU." +261640,"Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH; {612349}), tyrosine hydroxylase (TH; {191290}) and tryptophan hydroxylase (TPH1; {191060}), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits ({8:Dudesek et al., 2001}).\n\nHPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia ({8:Dudesek et al., 2001}). Other forms of BH4-deficient HPA include HPABH4B ({233910}), caused by mutation in the GCH1 gene ({600225}), HPABH4C ({261630}), caused by mutation in the QDPR gene ({612676}), and HPABH4D ({264070}), caused by mutation in the PCBD1 gene ({126090}). {18:Niederwieser et al. (1982)} noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU; {261600}), caused by mutation in the PAH gene.\n\nTwo additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia ({612716}), caused by mutation in the SPR gene ({182125}), and autosomal dominant dopa-responsive dystonia (DYT5; {128230}), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed." +261680,"Cytosolic phosphoenolpyruvate carboxykinase deficiency causes a defect in gluconeogenesis that results in a 'biochemical signature' of fasting hypoglycemia with high tricarboxylic acid cycle intermediate excretion, particularly of fumarate. Other biochemical anomalies that may be seen during metabolic crisis include ketonuria, dicarboxylic aciduria, and urea cycle dysfunction ({7:Vieira et al., 2017}).\n\nSee PCKDM ({261650}) for a discussion of mitochondrial PCK (PEPCK2; {614095}) deficiency." +261750,"Glycogen storage disease IXb (GSD9B), in which phosphorylase kinase is deficient in both liver and muscle, is characterized by predominantly mild symptoms including hepatomegaly, hypoglycaemia only after prolonged fasting, and in some cases muscle hypotonia (summary by {3:Beauchamp et al., 2007}).\n\nFor a discussion of genetic heterogeneity of GSD IX, see GSD9A ({306000})." +261800,"Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by {16:Tan et al., 2013})." +261900,"Pili torti, or twisted hair, is a condition in which the hair shafts are flattened and rotated along their long axis. Hairs are fragile and break at short length. Some patients may have associated dental or nail findings, and many have resolution of the fragile hair at puberty (review by {2:Dawber, 1996}).\n\nPili torti is also a feature in several disorders, including Bjornstad syndrome (BJS; {262000}), Bazex syndrome (BZX; {301845}), and Menkes disease ({309400})." +261990,"Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay ({2:Sharma et al., 2019})." +262000,"Bjornstad syndrome (BJS) is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti. The hearing loss is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair very brittle, is usually recognized early in childhood ({9:Selvaag, 2000})." +262400,"Isolated growth hormone deficiency type IA is an autosomal recessive disorder characterized by severe growth failure (SDS less than -4.5) by 6 months of age, undetectable growth hormone (GH) concentrations, and a tendency to develop antibodies despite an initial good response to rhGH treatment (summary by {2:Alatzoglou et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Isolated Growth Hormone Deficiency\n\nSee IGHD1B ({617281}) and IGHD2 ({173100}), both caused by mutation in the GH1 gene; IGHD3 ({307200}), caused by mutation in the BTK gene ({300300}); and IGHD4 ({618157}), caused by mutation in the GHRHR gene ({139191}).\n\nIsolated growth hormone deficiency-5 (IGHD5) has been reclassified as combined pituitary hormone deficiency-7 (CPHD7; {618160})." +262500,"Laron syndrome is an autosomal recessive disorder characterized by marked short stature that results from failure to generate insulin-like growth factor I (IGF1; {147440}) in response to growth hormone (GH; {139250}). GH levels are normal or increased. The disorder is caused by dysfunction of the growth hormone receptor.\n\nA Laron syndrome-like phenotype associated with immunodeficiency ({245590}) is caused by a postreceptor defect, i.e., mutation in the STAT5B gene ({604260}).\n\nPatients with mutations in the GHR gene that cause only partial insensitivity to growth hormone have a form of short stature ({604271})." +262650,"Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal or slightly increased GH secretion, pathologically low IGF1 ({147440}) levels, and normal catch-up growth on GH replacement therapy ({1:Besson et al., 2005})." +262710,"{1:Parks et al. (1978)} described this combination in 2 sisters and a brother, the only children of nonconsanguineous parents. Basal thyrotropin levels were low despite hypothyroidism, and increased little after injection of thyrotropin-releasing hormone. Stimulated growth hormone levels were less than 5 nanograms per milliliter. Treatment with both thyroxine and growth hormone was necessary for rapid growth. The findings were judged compatible with either familial neoplasia of the anterior pituitary or a regulatory defect promoting hyperplasia and inhibiting hormone release." +262800,"{1:Newcomb et al. (1967)} described an apparently 'new' bleeding syndrome characterized by deep tissue bleeding, poor wound healing, pseudotumor formation, and umbilical cord bleeding. A defect in clot retraction was correctable by a plasma protein. Family studies supported autosomal recessive inheritance." +262850,"Alpha-2-plasmin inhibitor deficiency is a rare autosomal recessive hemorrhagic diathesis. Most bleeds are severe, appear during childhood, and, in a few cases, umbilical bleeding is the first manifestation. Some homozygous patients present only moderate bleeding ({3:Favier et al., 2001})." +262875,"{1:Kaliman et al. (1985)} reported the case of a 10-year-old girl admitted to hospital because of severe intermittent claudication. Occlusion of the left popliteal artery was discovered. Laboratory investigations showed marked diminution in sensitivity of platelets to prostacyclin and a defect in platelet prostacyclin receptor ({600022}) was discovered. Because of reduction in the value of PGI2-receptor of the high affinity type in a brother and to some extent in both parents, the defect was thought to be hereditary. In 2 males, aged 35 and 38 years, presenting with myocardial infarction, {2:Sinzinger et al. (1991)} found abnormal conversion of exogenous 14C-arachidonic acid by platelets incubated in vitro. Neither of the patient's platelets showed evidence of a lipoxygenase pathway. Platelet thromboxane formation from exogenous and endogenous substrate was high, while the platelet aggregation responses were normal. A myeloproliferative syndrome was suggested by findings of bone marrow aspiration." +262890,"Scott syndrome is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents ({9:Munnix et al., 2003})." +262900,"In a case of childhood myopathy, {1:Shy et al. (1966)} found large numbers of mitochondria. The clinical features were proximal weakness and wasting, prolonged episodes of flaccid paralysis, and salt craving. Two brothers may have been affected in this sibship. {2:Spiro et al. (1970)} described a 13-year-old boy who was floppy at birth, showed delayed motor milestones, and was found to have severe salt craving and nonprogressive myopathy. Ultrastructural abnormalities, consisting of increased numbers of large mitochondria aligned with lipid bodies, were noted in biopsied skeletal muscle fibers. No other members of the family were affected." +263000,"Interstitial lung disease (ILD), or pneumonitis, is a heterogeneous group of disorders characterized pathologically by expansion of the interstitial compartment of the lung by inflammatory cells. Fibrosis occurs in many cases ({12:Visscher and Myers, 2006}). See also interstitial lung disease-1 (ILD1; {619611}).\n\nDesquamative interstitial pneumonitis (DIP) was originally described as a pathologic entity by {7:Liebow et al. (1965)}. Lung biopsy shows diffuse and uniform filling of alveoli by clusters of cells which {7:Liebow et al. (1965)} speculated to be 'desquamated pneumocytes.' Since then, these cells have been shown primarily to be pigmented alveolar macrophages. Other features include thickened alveolar septa with an infiltrate of inflammatory cells and plump, cuboidal type II pneumocytes. Mild collagen deposition without architectural distortion or honeycombing may be present. Different forms of ILD represent pathologic classifications based on histologic patterns rather than clinical diagnoses and may occur in a variety of clinical contexts ({12:Visscher and Myers, 2006}).\n\nAlthough DIP occurs most often as a sporadic disorder in adults during the third to fifth decade of life and is highly associated with smoking ({3:Carrington et al., 1978}), reports of a familial form with onset in infancy and early death suggest a genetic basis ({9:Sharief et al., 1994}).\n\nCases of DIP reported in infants are often more severe and refractory to treatment than those reported in adults ({8:Nogee et al., 2001})." +263100,"{1:Fairley et al. (1963)} observed 3 sibs with some type of eye defect causing blindness and some type of renal defect. One died at age 22 years of polycystic kidney, was blind from birth, and showed central cataract. A second died at 18 years and had the same eye defect; atrophic kidneys with pyramidal cysts were found. The third sib had retinal dystrophy (or dysplasia) and large kidneys with medullary cysts." +263200,"PKD4 is an autosomal recessive polycystic kidney disease (ARPKD) characterized by enlarged, echogenic kidneys with fusiform dilatation of the collecting ducts. Most patients progress to end-stage renal disease (ESRD), but at varying ages. Patients also have liver disease consisting of dilated biliary ducts, congenital hepatic fibrosis (CHF), and portal hypertension (Caroli disease). The most typical disease expression occurs in neonates and includes a history of oligohydramnios, massively enlarged kidneys, and the 'Potter' sequence with pulmonary hypoplasia that leads to respiratory insufficiency and perinatal death in approximately 30% of affected newborns (summary by {23:Hartung and Guay-Woodford, 2014}).\n\nFor a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 ({173900})." +263210,"Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by {4:Tham et al., 2016})." +263300,"Polycythemia vera, the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients ({2:Cario, 2005}). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, {133100}), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; {133170}) ({20:Prchal, 2005})." +263400,"Familial erythrocytosis-2 (ECYT2) is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; {133170}), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events ({7:Cario, 2005}). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors may be hypersensitive to EPO, consistent with a primary, intrinsic process ({23:Prchal, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 ({133100})." +263450,"For a general phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly (PAP), see PAPA1 ({174200})." +263520,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {6:Huber and Cormier-Daire, 2012} and {11:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500})." +263540,"In 3 patients, {1:Rogers et al. (1977)} observed postaxial polydactyly and other abnormalities of the hands and feet (brachydactyly, broad toes, syndactyly of toes 2 and 3), hypoplasia and fusion of vertebral bodies, and dental anomalies (fused teeth, macrodontia, hypodontia, short roots, etc.). Two of the patients were sisters born to normal unrelated parents; the third was a male offspring of normal but consanguineous parents. The third patient had congenital heart malformations. The combination of postaxial polydactyly and cardiac malformation should, perhaps, bring to mind this syndrome, in addition to the Ellis-van Creveld syndrome ({225500}) and the Kaufman syndrome ({236700})." +263550,"{1:Robinson et al. (1977)} described 2 second cousins with infantile polymyoclonus. No other familial cases have been described. The main clinical features are chaotic rapid conjugate ocular movements, ataxia, somatic myoclonus, and irritability. The syndrome is not progressive. It runs a protracted course with exacerbations and remissions. It has been called the 'dancing eyes, dancing feet syndrome.'" +263570,"Adult polyglucosan body neuropathy is a late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of the disorder is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes (summary by {5:Lossos et al., 1998})." +263600,{1:Craig and Uzman (1958)} described 2 sibs affected by a metabolic disorder characterized pathologically by the storage of an unusual polysaccharide. +263610,"In lower vertebrates, a major function of prolactin (PRL) is to conserve water and maintain electrolyte balance. Studies in man and lower primates indicate that PRL also influences water and ion fluxes across the placental membranes, the amnion and chorion laeve, which are both of fetal origin and are apposed to maternal decidual tissue. PRL is secreted by human decidual cells and is present in amniotic fluid in high concentrations. {3:Herington et al. (1980)} demonstrated that high affinity, low capacity receptors for PRL and other lactogen hormones such as growth hormone exist in human chorion laeve. {2:Healy et al. (1983)} reasoned that chronic idiopathic polyhydramnios might be due to a defect in these receptors. (Idiopathic or primary polyhydramnios is the most numerous category in most series of chronic polyhydramnios. Other associations are diabetes mellitus, multiple pregnancy, rhesus isoimmunization, fetal malformations, and placental neoplasms.) {2:Healy et al. (1983)} found reduced specific binding of growth hormone to chorion laeve. Scatchard analysis was consistent with a reduced lactogen hormone receptor concentration. Specific binding of insulin was normal. Information on familial aggregation of this complication of pregnancy will be of interest. {1:Healy (1983)} indicated that he had 'been intrigued by the possible inheritance of this obstetric complication' but had no data bearing on the question from his studies in Australia and Ireland." +263650,"Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by {12:Mitchell et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Bartsocas-Papas Syndrome\n\nBartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene ({600664}).\n\nA less severe form of popliteal pterygium syndrome (PPS; {119500}) is caused by mutation in the IRF6 gene ({607199})." +263700,"The porphyrias are diseases caused by defects in heme synthesis, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver ({11:Gross et al., 2000}).\n\n{3:Desnick and Astrin (2002)} provided a comprehensive review of congenital erythropoietic porphyria pathogenesis and treatment.\n\nOne patient with a phenotype suggestive of congenital erythropoietic anemia was found to have a mutation in the GATA1 gene ({305371.0010}) that affected UROS expression (see XLTT, {314050})." +263750,"Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by {11:Ng et al., 2010})." +263800,"Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by {7:Glaudemans et al., 2012}). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome ({607364}).\n\nFor a discussion of genetic heterogeneity of Bartter syndrome, see {607364}." +264010,"{2:Urban et al. (1979)} described 2 brothers, aged 19 years and 9 months and 16 years and 8 months, with a previously undescribed condition characterized by genital anomalies, mental retardation, obesity, contractures of fingers, and osteoporosis. {1:Pagnan and Gollop (1988)} described a 12-year-old boy with a similar phenotype. The parents were nonconsanguineous. Both the fingers and the toes showed camptodactyly. In addition to osteopenia, the bones of the hands and feet showed tubulation defects and large epiphyses." +264050,"Uncomplicated prenatal bowing of the long bones with dimpling has been described in sibs ({1:Conway, 1958}; {4:Mahloudji et al., 1974}). Prenatal bowing also occurs with osteogenesis imperfecta, hypophosphatasia, and camptomelic dysplasia. {2:Hall and Spranger (1980)} gave a review of congenital bowing of the long bones and identified 3 groups of cases among the 'bewildering variety of bone changes and associated clinical abnormalities which only rarely seem to fall into a recognizable pattern.' {3:Kapur and Van Vloten (1986)} observed congenital bowing in a child whose mother had bowing in infancy. Her adult height was 159.5 cm and x-rays showed minimal bowing of the femur. The child's bowing of the femurs was self-correcting over a period of 22 months." +264060,"Preretinal or prepapillary vascular loops are isolated, usually unilateral, congenital anomalies of the retina. They occur both in the arterial and the venous system, but are much more common on the arterial side. {2:Lambert et al. (1983)} reported a family in which a 62-year-old black man had prepapillary vascular loop on the right; his 31-year-old asymptomatic daughter had 'a superior temporal artery distribution that spiraled around the superior temporal vein in several places;' her 28-year-old brother had a right temporal artery that spiraled around its attendant vein twice before bifurcating; and her 6-year-old daughter had 2 small vascular loops at the interior nasal margin of the left optic disc. {1:Grossniklaus et al. (1986)} observed prepapillary vascular loops in a mother and daughter." +264070,"Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) D is an autosomal recessive disorder characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported ({12:Thony et al., 1998}). Patients may also develop hypomagnesemia and nonautoimmune diabetes mellitus during puberty (summary by {9:Ferre et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of BH4-deficient hyperphenylalaninemia, see HPABH4A ({261640})." +264080,"Progesterone prepares the endometrium for blastocyst implantation and allows maintenance of pregnancy. The major sources of progesterone are the corpus luteum during the second half of the menstrual cycle and at the beginning of pregnancy, and the placenta. The main hormones responsible for stimulation of progesterone secretion are luteinizing hormone (LH) for the corpus luteum of the menstrual cycle and chorionic gonadotropin for the corpus luteum of pregnancy. Complete end-organ resistance to progesterone would be incompatible with reproductive competence in females. Males would not be expected to be affected since progesterone has no known function in men. Failure of the uterus to respond to progesterone would lead to the development of a 'constantly proliferative' endometrium incompatible with blastocyst implantation. Partial resistance to progesterone, on the other hand, would be expected to be associated with various degrees of incomplete maturation of the endometrium, perhaps expressed clinically as infertility or early abortions. The syndrome would present with the clinical and histologic picture of a luteal phase defect in which the life span of the corpus luteum and the plasma progesterone concentrations would be normal or elevated." +264090,"Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by {26:Toriello, 1990}). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported ({1:Akawi et al., 2013})." +264110,"Isolated prolactin deficiency is a clear entity ({3:Turkington, 1972}) which may be an autosomal recessive trait. The affected females are generally healthy but are unable to nurse following parturition and have no detectable prolactin secretion after stimulation with phenothiazine. {1:Falk (1992)}, who stated that only 3 cases had previously been reported, described a 36-year-old gravida 2, para 2 who had experienced normal childhood and adolescent development. After spontaneous menarche at age 13, her menses were grossly irregular, for which oral contraceptives were started at age 16. With the help of clomiphene, she conceived at the age of 30 and had an uneventful pregnancy which was followed, however, by failure of lactation during the puerperium. Three years later she again was successfully treated with clomiphene and went through an uncomplicated pregnancy except for the failure to establish lactation. There was no family history of problems with lactation or of irregular or absent menses. In addition to the 2 patients reported by {3:Turkington (1972)}, {2:Kauppila et al. (1987)} reported a woman with puerperal alactogenesis who, despite undetectable immunoactive serum PRL measurements, had 2 normal pregnancies that were conceived without benefit of ovulation-inducing medications." +264120,"{1:Roitman et al. (1980)} described an obese, slightly mentally retarded 4-year-old boy with large testes. The only endocrine disorder found was absence of an increase in plasma prolactin after stimulation. No information relevant to a possible genetic basis was available." +264140,"{1:Lockhart et al. (1979)} described a family in which 2 brothers and a sister had this combination. A fourth sib may have been affected; the mother reported that the male, who died 25 hours after birth, had 'a big bladder, big ureters, bad kidneys.' The hearing loss was sensorineural in nature. Because the involvement in the female was less marked than in the males, the possibility of X-linked inheritance was suggested. No information concerning abnormalities in the mother was provided." +264180,"Pseudodiastrophic dysplasia (PDD) is an extremely rare and severe skeletal dysplasia associated with prenatal manifestation and early lethality. Phenotypic features include short-limbed short stature at birth, facial dysmorphism, and distinctive skeletal abnormalities including short ribs, mild to moderate platyspondyly, shortened long bones with metaphyseal flaring, elongation of the proximal and middle phalanges with subluxation of the proximal interphalangeal joints, subluxation of the elbow, and talipes equinovarus (summary by {2:Byrne et al., 2020}).\n\nBased on genetic analysis of patients with a clinical diagnosis of PDD, {2:Byrne et al. (2020)} proposed that PDD is likely not a separate genetic disorder, but rather the most severe phenotypic manifestation of skeletal dysplasia arising from defects in proteoglycan (PG) biosynthesis (see MOLECULAR GENETICS)." +264270,"In 2 daughters of a first-cousin marriage, {1:Park et al. (1972)} described primary amenorrhea, ambiguous external genitalia, and bony abnormalities (hypoplasia and shortening of mandibular condyles, hypoplasia of maxilla, fusion of humerus, and ulnar dislocation of radial heads, etc.). Karyotype was normal female. The clitoris was enlarged with marked fusion of the labioscrotal folds. The vagina was of normal size. Ovaries, tubes and uterus were normal." +264300,"HSD17B3 deficiency is an autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization (summary by {13:Lindqvist et al., 2001})." +264350,"Autosomal recessive pseudohypoaldosteronism type I is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; {219700}). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by {20:Scheinman et al., 1999}).\n\nA milder, autosomal dominant form of type I pseudohypoaldosteronism (PHA1A; {177735}) is caused by mutations in the mineralocorticoid receptor gene (MCR, NR3C2; {600983}).\n\nGitelman syndrome ({263800}), another example of primary renal tubular salt wasting, is due to mutation in the thiazide-sensitive sodium-chloride cotransporter (SLC12A3; {600968}).\n\n{11:Hanukoglu and Hanukoglu (2016)} provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases." +264420,"Pseudoinflammatory fundus dystrophy was described by {6:Sorsby et al. (1949)} as a dominant disorder (see {136900}). The existence of a recessive form was suggested by several reports. From Finland, {3:Forsius et al. (1982)} reported a family in which both parents (who were related) were affected and all of their 8 children were also affected. Among collateral relatives, 3 other cases were found. All affected individuals over age 30 years had an 'exudative' process in the central part of the retina, often complicated at some stage by hemorrhages. The age of onset varied from the second to the fourth decade. Myopia increased rapidly in the active stages. The recessive form may have somewhat earlier age of onset on the average. An apparently recessive form was reported in 1 family by {5:Sorsby (1940)}. {4:Francois (1961)} reported 2 brothers who were thought to have the recessive form. {1:Eriksson et al. (1990)} provided follow-up on the family reported by {3:Forsius et al. (1982)}. They presented a pedigree documenting that the grandparents and parents of all 8 affected children were related in many ways. One of the 8 children had an affected daughter and an unaffected son. {1:Eriksson et al. (1990)} gave a comparison of the autosomal dominant and autosomal recessive forms of pseudoinflammatory fundus dystrophy, called by them the Sorsby type and the Lavia (Finnish) type, respectively. The Finnish type, thought to be inherited as an autosomal recessive, had earlier onset than the Sorsby type, with relatively rapid loss of visual acuity and striking peripheral retinal degeneration and secondary dyschromatopsia. Dark adaptation was normal in the Sorsby type and disturbed in the Lavia type.\n\nHowever, after heterozygous mutations in the gene encoding tissue inhibitor of metalloproteinases-3 (TIMP3; {188826}) were found as the cause of Sorsby fundus dystrophy, {2:Felbor et al. (1997)} restudied the Lavia kindred and showed that all affected members were heterozygous for a gly166-to-cys mutation in the TIMP3 gene ({188826.0004}) and provided strong evidence for an autosomal dominant inheritance of the Sorsby fundus dystrophy phenotype in this kindred. They concluded from all available data that SFD is a genetically homogeneous, although clinically heterogeneous, autosomal dominant disorder." +264470,"Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency ({261515}), caused by mutation in the HSD17B4 gene ({601860}) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (see {601539}) ({10:Watkins et al., 1995})." +264500,{1:Kihara (1967)} described increased urinary excretion of pseudouridine (5-ribosyluracil) in sibs institutionalized for mental deficiency. +264600,"Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum." +264700,"Vitamin D3 (cholecalciferol), synthesized in the epidermis in response to UV radiation, and dietary vitamin D2 (ergocalciferol, synthesized in plants) are devoid of any biologic activity. Vitamin D hormonal activity is due primarily to the hydroxylated metabolite of vitamin D3, 1-alpha,25-dihydroxyvitamin D3 (calcitriol), the actions of which are mediated by the vitamin D receptor (VDR; {601769}) ({11:Koren, 2006}; {17:Liberman and Marx, 2001}).\n\nIn the liver, vitamin D 25-hydroxylase (CYP2R1; {608713}) catalyzes the initial hydroxylation of vitamin D at carbon 25; in the kidney, 1-alpha-hydroxylase (CYP27B1; {609506}) catalyzes the hydroxylation and metabolic activation of 25-hydroxyvitamin D3 into 1,25-dihydroxyvitamin D3. The active metabolite 1,25(OH)2D3 binds and activates the nuclear vitamin D receptor, with subsequent regulation of physiologic events such as calcium homeostasis and cellular differentiation and proliferation ({25:Takeyama et al., 1997}).\n\nDisorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia ({17:Liberman and Marx, 2001}).\n\n<Subhead> Genetic Heterogeneity of Vitamin D-Dependent Rickets\n\nVitamin D-dependent rickets type 1A (VDDR1A) is due to an enzymatic defect in synthesis of the active form of vitamin D caused by mutation in the CYP27B1 gene. VDDR1B ({600081}) is a form of rickets due to mutation in the gene encoding a vitamin D 25-hydroxylase (CYP2R1; {608713}), another enzyme necessary for the synthesis of active vitamin D. Vitamin D-dependent rickets type 2A (VDDR2A; {277440}) is caused by end-organ unresponsiveness of active vitamin D due to mutation in the gene encoding the vitamin D receptor (VDR; {601769}). VDDR2B ({600785}) is an unusual form of end-organ unresponsiveness to active vitamin D due to an abnormal protein (see HNRNPC, {164020}) that interferes with the function of the VDR. VDDR3 ({619073}) is a dominant form of VDDR caused by accelerated inactivation of vitamin D metabolites due to mutation in the CYP3A4 gene ({124010}).\n\n<Subhead> Other Forms of Hypophosphatemic Rickets\n\nFor a discussion of other forms of hypophosphatemic rickets, see ADHR ({193100})." +264800,"Pseudoxanthoma elasticum is an inherited multisystem disorder that is associated with accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Bruch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye, including peau d'orange, angioid streaks, and choroidal neovascularizations (CNVs); of the skin, including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces; and of the cardiovascular system, with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings (summary by {20:Finger et al., 2009}).\n\nGeneralized arterial calcification of infancy-2 (GACI2; {614473}) is an allelic disorder, also caused by homozygous or compound heterozygous mutation in the ABCC6 gene; it has been suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than 2 distinct disorders ({46:Nitschke et al., 2012})." +265000,"Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) ({15:Morgan et al., 2006}). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal ({253290}) and nonlethal (Escobar) types." +265050,"The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by {6:Rooryck et al., 2011}).\n\nFor a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 ({257920})." +265100,"Pulmonary alveolar microlithiasis (PULAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades, and, generally, the diagnosis is incidental to clinical investigations unrelated to the specific disorder. Cases with early onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age, and the disease follows a long-term progressive course, resulting in a slow deterioration of lung functions. About one-third of the reported cases are said to be familial (summary by {7:Corut et al., 2006})." +265120,"Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) ({2:Clark and Clark, 2005}).\n\nA clinically similar disorder characterized by respiratory distress ({267450}) can affect preterm infants, who show developmental deficiency of surfactant.\n\nAcquired PAP ({610910}) is an autoimmune disorder characterized by the presence of autoantibodies to CSF2 ({138960}).\n\n<Subhead> Genetic Heterogeneity of Pulmonary Surfactant Metabolism Dysfunction\n\nSee also SMDP2 ({610913}), caused by mutation in the SPTPC gene ({178620}) on 8p21; SMDP3 ({610921}), caused by mutation in the ABCA3 gene ({601615}) on 16p13; SMDP4 ({300770}), caused by mutation in the CSF2RA gene ({306250}) on Xp22; and SMDP5 ({614370}), caused by mutation in the CSF2RB gene ({138981}) on 22q12." +265150,"Pulmonary atresia with intact ventricular septum accounts for less than 3% of all congenital heart defects ({3:Grossfeld et al., 1997}).\n\n{1:Chitayat et al. (1992)} reported 2 sisters with hypoplastic right heart and pulmonary atresia. The first sib was found in the newborn period to have this abnormality. An attempt at surgical repair was unsuccessful. In the next pregnancy, fetal echocardiography at 22 weeks of gestation demonstrated the same cardiac abnormalities, which were confirmed at autopsy in the fetus. No other malformations were found in either case and no other relatives were affected.\n\n{3:Grossfeld et al. (1997)} reported 2 first cousins with pulmonary atresia and intact ventricular septum. The first had a severely hypoplastic right ventricle and tricuspid valve and a restrictive atrial septal defect. She died at age 12 days. The patient's maternal aunt delivered a son with congenital heart disease 23 years earlier. At that time, pulmonary atresia with intact ventricular septum, hypoplastic tricuspid valve and right ventricle, and patent ductus arteriosus were noted. That patient died at age 5 months. {3:Grossfeld et al. (1997)} suggested autosomal dominant inheritance with incomplete penetrance.\n\n{2:De Stefano et al. (2008)} reported monozygotic twin sisters with pulmonary valve atresia and intact ventricular septum. The girls died of respiratory failure at age 3 and 7 days, respectively. Echocardiography and postmortem examination of both patients showed pulmonary valve atresia with 3 fused valves and no identifiable lumen. There was generalized cardiomegaly, right atrial dilatation, right ventricular hypertrophy, and small right ventricular chambers. The tricuspid valves were dysplastic with 2 thick leaflets attached to the right ventricular endocardium. One twin also had aortic stenosis with a bicuspid aortic valve and thick, dysplastic leaflets. Molecular analysis identified a biallelic 55-kb deletion of chromosome 20q13.12 in both girls. The unaffected nonconsanguineous parents were each heterozygous for 1 of the deletions." +265200,"{1:Gibson (1977)} described 3 sisters with repeated pneumothoraces beginning at ages 28, 32 and 37 years. Bullae were present in otherwise normal lungs. The Marfan syndrome was excluded by the height (less than 5 ft in 2) and antitrypsin deficiency was excluded by assay." +265380,"Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity ({3:Boggs et al., 1994}). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period ({12:Vassal et al., 1998}). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs ({7:Sen et al., 2004})." +265400,"Primary pulmonary hypertension-5 (PPH5) is an autosomal recessive disorder characterized by the onset of pulmonary artery hypertension in infancy, resulting in right heart dysfunction and ultimately right heart failure. Death in early childhood is common ({4:Machado et al., 2021}).\n\nFor a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 ({178600})." +265430,"Primary bilateral pulmonary hypoplasia is defined as quantitative and/or qualitative underdevelopment of bronchial and pulmonary tissue unrelated to an underlying disorder ({9:Langer and Kaufmann, 1986})." +265450,"Pulmonary venoocclusive disease primarily affects the postcapillary venous pulmonary vessels and may involve significant pulmonary capillary dilation and/or proliferation. PVOD is an uncommon cause of pulmonary artery hypertension (PPH; see {178600}), a severe condition characterized by elevated pulmonary artery pressure leading to right heart failure and death. PVOD accounts for 5 to 10% of 'idiopathic' PPH and has an estimated incidence of 0.1 to 0.2 cases per million. The pathologic hallmark of PVOD is the extensive and diffuse occlusion of pulmonary veins by fibrous tissue, with intimal thickening present in venules and small veins in lobular septa and, rarely, larger veins. Definitive diagnosis of PVOD requires histologic analysis of a lung sample, although surgical lung biopsy is often too invasive for these frail patients. Patients with PVOD respond poorly to available therapy, therefore it is crucial to distinguish PVOD from other forms of PPH. Radiologic characteristics suggestive of PVOD on high-resolution CT of the chest include nodular ground-glass opacities, septal lines, and lymph node enlargement. In addition, because PVOD mainly affects postcapillary vasculature, it causes chronic elevation of pulmonary capillary pressure and thus promotes occult alveolar hemorrhage, which may be a characteristic feature of PVOD (summary by {3:Montani et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Pulmonary Venoocclusive Disease\n\nSee also PVOD2 ({234810}), caused by mutation in the EIF2AK4 gene ({609280}) on chromosome 15q15." +265500,"{1:Coblentz and Mathivat (1952)} described 2 sisters with pulmonic stenosis. {4:Lamy et al. (1957)} found increased parental consanguinity in pulmonic stenosis and described 1 instance of 2 affected sibs. Consanguinity effect is to be expected of a multifactorial trait, so that this, like the occurrence of affected sibs, is not proof of simple recessive inheritance. {2:David (1974)} observed a family with 4 affected persons in 3 generations: grandfather, 2 of his daughters, and a son of 1 of the daughters. {5:McCarron and Perloff (1974)} observed father and daughter with classic valvular pulmonic stenosis. Pulmonic stenosis due to myxomatous dysplasia of the valve occurs as part of the Noonan syndrome ({163950}), which is clearly mendelian. {6:Patterson et al. (1981)} did genetic studies of hereditary pulmonary valve dysplasia in beagles. They concluded that the disorder is not a simple mendelian trait and that genes at more than one locus predispose to abnormal development of the pulmonary valve. The risk increased with inbreeding. They maintained that so-called typical pulmonary stenosis is fundamentally the same as pulmonary valve dysplasia." +265600,{1:Fournier et al. (1963)} observed a family in which 4 of 5 children had clinical and/or autopsy evidence of pulmonary stenosis and congenital nephrotic syndrome. +265880,"Pyknoachondrogenesis is the designation suggested by {1:Camera et al. (1986)} for a lethal osteochondrodysplasia that is similar to achondrogenesis but has the additional feature of extraordinary sclerosis of bones as indicated by the increased density on x-ray studies. {1:Camera et al. (1986)} described this combination in 2 stillborn male sibs and pointed to the apparently identical disorder in 3 infants (2 males, 1 female) born to the same mother and reported by {2:Smith et al. (1981)}. In both instances, the parents were nonconsanguineous." +265900,"Pyle disease is characterized by long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility. Fractures are common in Pyle disease, and fracture lines usually go through the abnormally wide metaphyses, revealing their fragility (summary by {9:Kiper et al., 2016})." +266100,"Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 ({5:Bennett et al., 2005})." +266120,"Deficiency of pyrimidine 5-prime nucleotidase, also called uridine 5-prime monophosphate hydrolase, causes an autosomal recessive hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. The enzyme is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. {10:Hirono et al. (1988)} suggested that this deficiency is the third most common RBC enzymopathy--after G6PD ({300908}) and pyruvate kinase (see {266200}) deficiencies--causing hemolysis (summary by {13:Marinaki et al., 2001})." +266130,"Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline ({5:Larsson and Anderson, 2001})." +266140,"Hereditary pyropoikilocytosis was originally described by {13:Zarkowsky et al. (1975)} as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.\n\nHPP is a subset of hereditary elliptocytosis (see {611804}) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by {1:An and Mohandas, 2008})." +266200,"Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK deficiency is also the most frequent enzyme abnormality of the glycolytic pathway ({57:Zanella et al., 2005})." +266265,"Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A ({212065}) and CDG2A ({212066}).\n\n{9:Frydman (1996)} contended that the neutrophil defect in CDG2C, which has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), is a manifestation of the disorder and that there are no cases of 'primary' LAD II.\n\n{4:Etzioni and Harlan (1999)} provided a comprehensive review of both leukocyte adhesion deficiency-1 (LAD1; {116920}) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1. For a discussion of genetic heterogeneity of LAD, see {116920}." +266270,"{5:Ramon et al. (1967)} described 2 sibs with cherubism (maxillary fibrous dysplasia; see {118400}), gingival fibromatosis (see {135300}), epilepsy, mental deficiency, hypertrichosis, and stunted growth. {3:Pina-Neto et al. (1986)} described the same disorder in 4 individuals in a Brazilian kindred. A male and 2 females were the offspring of a first-cousin marriage; the fourth case was a male related to them as a second cousin. The features were identical to those of the cases reported by {5:Ramon et al. (1967)} except that 3 of the 4 patients also had juvenile rheumatoid arthritis, which {3:Pina-Neto et al. (1986)} suggested should be considered a part of the syndrome. {1:De Pina-Neto et al. (1998)} provided information on the clinical evolution of the disorder in the Brazilian family. Three members had developed pigmentary changes in the retina and paleness of the optic disc. Another had developed giant hypertrophy of the labia minora that, when examined histopathologically, was found to be due to neoplastic fibroblast and epithelial proliferation caused by a fibromatous process similar to that reported in the gingivae of patients with this disorder.\n\n{2:Parkin and Law (2001)} reported follow-up of 2 sibs with Ramon syndrome, originally described by {4:Pridmore et al. (1992)}. Both had anomalous pale optic discs and retinal abnormalities including pigmentary retinal changes in one sib. In addition, both sibs had bilateral anterior chamber eye anomalies (Axenfeld anomaly), not previously described in Ramon syndrome. The authors suggested that ocular abnormalities may be another feature of this syndrome.\n\nSome of the features of Ramon syndrome are found in patients treated with phenytoin. Gingival hyperplasia also occurs in the Rutherfurd syndrome ({180900}), the Laband syndrome ({135500}), and the Jones syndrome ({135550})." +266300,"Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see {176830}), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; {600201}), which antagonizes this action." +266400,"This disorder consists of malformation of the retina and persistence of the primary vitreous. Absence of the definitive vitreous is not surprising since its formation is dependent on the retina. The abnormality may simulate Norrie disease ({310600}). It is the characteristic eye change in trisomy 13 (the Bartholin-Patau syndrome), which is characterized by delay in the development of several proteins, such as adult hemoglobin and red cell catalase ({3:Lee et al., 1966}). Multiple visceral manifestations and others such as polydactyly were known to be associated ({1:Harris and Thomson, 1937}; {5:Reese and Blodi, 1950}; {6:Reese and Straatsma, 1958}; {7:Yudkin, 1928}) long before the chromosomal basis was elucidated. Aside from the importance in the differential diagnosis of microphthalmos, anophthalmos, and Norrie disease, the main reason for including mention here of Reese retinal dysplasia is that {6:Reese and Straatsma (1958)} observed 2 sibships with multiple affected members--2 out of 3 in one and 3 out of 4 in a second. In reporting the case of a 10-year-old boy, {4:Matthes and Stenzel (1968)} described minor changes in the mother and 2 sibs. Karyotype was normal in the proband." +266500,"Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by {29:Skjeldal et al., 1987}).\n\nIncreased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) ({29:Skjeldal et al., 1987}).\n\nInfantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.\n\nA phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B; {614879}), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7; {601757}) on chromosome 6q." +266510,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {5:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}." +266810,"In a brother and sister born to nonconsanguineous parents, {1:Davee et al. (1992)} described renal hypoplasia, mullerian duct hypoplasia, and strikingly similar facial features. Facies consisted of frontal bossing, hypertelorism, strabismus, short nose, and mild micrognathia. Both sibs had severe growth and developmental retardation. A small horseshoe kidney and an absent uterus were the primary urogenital features in the girl. Her brother had an anteriorly displaced urethral meatus and a small right hydrocele; the left testis was in the inguinal canal and his kidneys were hypoplastic but functional." +266900,"Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see {256100}) and Leber congenital amaurosis (see {204000}). Mutations in some of the same genes that cause nephronophthisis (see {256100}) cause Senior-Loken syndrome.\n\n<Subhead> Genetic Heterogeneity of Senior-Loken Syndrome\n\nOther forms of SLSN include SLSN4 ({606996}), caused by mutation in the NPHP4 gene ({607215}) on chromosome 1p36; SLSN5 ({609254}), caused by mutation in the NPHP5 gene (IQCB1; {609237}) on chromosome 3q13; SLSN6 ({610189}), caused by mutation in the NPHP6 gene (CEP290; {610142}) on chromosome 12q21; SLSN7 ({613615}), caused by mutation in the SDCCAG8 gene ({613524}) on chromosome 1q43; SLSN8 ({616307}), caused by mutation in the WDR19 gene ({608151}) on chromosome 4p14; and SLSN9 ({616629}), caused by mutation in the TRAF3IP1 gene ({607380}) on chromosome 2q37.\n\nAnother form of SLSN, SLSN3 ({606995}), has been mapped to a locus on chromosome 3q22, overlapping the NPHP3 locus ({604387})." +266910,"{1:Schrander-Stumpel et al. (1990)} described newborn brother and sister who died shortly after birth from respiratory failure. They showed growth retardation with a Potter-like face, complete phocomelia of the upper limbs, severe hypoplasia of the 6 upper ribs, renal dysplasia and abnormalities of the external genitalia. They suggested that these cases represent the same entity reported by {2:Ulbright et al. (1984)}. The syndrome appears to be lethal because of severe renal dysplasia which causes oligohydramnios and pulmonary hypoplasia. {1:Schrander-Stumpel et al. (1990)} suggested the designations 'renal dysplasia--limb defects syndrome (RL syndrome).'" +266920,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {5:Huber and Cormier-Daire, 2012} and {13:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500})." +267000,"Perlman syndrome is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; {130650}). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by {2:Astuti et al., 2012})." +267010,"This autosomal recessive disorder is designated Meckel syndrome type 7 based on the classic phenotypic triad of (1) cystic renal disease; (2) a central nervous system abnormality, and (3) hepatic abnormalities, as defined by {11:Meckel (1822)}, {13:Salonen (1984)}, and {10:Logan et al. (2011)}. According to these criteria, polydactyly is a variable feature.\n\n{6:Herriot et al. (1991)} and {1:Al-Gazali et al. (1996)} concluded that Dandy-Walker malformation can be the phenotypic manifestation of a central nervous system malformation in MKS.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 ({249000})." +267200,"{3:Morris et al. (1969)} observed 2 unrelated infant girls with a distinct form of bicarbonate-wasting RTA, which they referred to as dislocation type. {1:Huth et al. (1960)} separated the group with onset in infancy and childhood from that with onset in later life. The former seems to be a genetic disorder transmitted as an autosomal recessive, although a predominance of males has been observed. {4:Wilson et al. (1967)} studied 2 families, each with a case of late-onset renal tubular acidosis, and found elevation of serum immunoglobulins in close relatives but no other cases of renal tubular acidosis. Renal tubular acidosis becomes apparent because of: periodic paralysis due to hypokalemia; rickets or osteomalacia; kidney stones; or nephrocalcinosis by abdominal x-ray." +267400,"In 4 female sibs, {3:Winter et al. (1968)} observed renal hypoplasia or aplasia, anomalies of the internal genitalia, especially vaginal atresia, and, in the 2 surviving sisters in whom it could be investigated, anomaly of the ossicles of the middle ear. {2:Turner (1970)} described a similarly affected patient. Pathologic findings in 2 sisters of the Winter kindred had been reported by {1:Schmidt et al. (1952)}." +267430,"Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) ({5:Gribouval et al., 2005}). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects." +267450,"The main cause of respiratory distress syndrome (RDS) in premature infants is a developmental deficiency of pulmonary surfactant. The frequency of RDS is inversely proportional to gestational age. However, not all infants born prematurely develop RDS, suggesting that there may be susceptibility factors. Because multiple factors can contribute to the pathogenesis of RDS specifically in premature infants, the etiology is considered to be multifactorial (summaries by {8:Ramet et al., 2000}; {1:Clark and Clark, 2005}).\n\nPathogenic germline mutations in several genes involved in surfactant metabolism, including SFTPB ({178640}) and SFTPC ({178620}), can cause clinical features of respiratory distress syndrome in term neonates, children, and adults, disorders referred to as 'surfactant metabolism dysfunction' (see, e.g., SMDP1, {265120}). Susceptibility to the development of RDS in premature infants may be associated with polymorphisms in surfactant genes, such as surfactant protein A1 (SFTPA1; {178630}), SFTPB, and SFTPC (see MOLECULAR GENETICS)." +267480,"{4:Moore et al. (1976)} studied the family of an obese but otherwise healthy 12-year-old boy with respiratory failure and normal lung function. The respiratory failure seemed related to deficient ventilatory responses to hypoxia and hypercapnia. The latter in turn seemed to be familial because both parents and all 4 sibs showed reduced responsiveness to reduced oxygen and carbon dioxide excess. The magnitude of ventilatory responses to hypoxia and hypercapnia varies widely in the 'normal' population. Enga tribesmen of New Guinea ({1:Beral and Read, 1971}) and long-distance runners ({2:Byrne-Quinn et al., 1971}) show decreased responsiveness. {5:Saunders et al. (1976)} found a correlation between the hypercapnic ventilatory responses of championship swimmers and those of their sibs. {3:Collins et al. (1978)} studied ventilatory response to isocapnic hypoxia and hyperoxic hypercapnia in 12 pairs of identical twins and 12 pairs of nonidentical twins. A significant correlation could be found for response to isocapnic hypoxia in MZ twins only, but not for response to hypercapnia." +267700,"{57:Zur Stadt et al. (2005)} summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained ({29:Henter et al., 2002}). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation ({13:Durken et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Familial Hemophagocytic Lymphohistiocytosis\n\nFamilial hemophagocytic lymphohistiocytosis (FHL1) has been mapped to chromosome 9q. Also see FHL2 ({603553}), caused by mutation in the PRF1 gene ({170280}) on chromosome 10q22; FHL3 ({608898}), caused by mutation in the UNC13D gene ({608897}) on chromosome 17q25; FHL4 ({603552}), caused by mutation in the syntaxin-11 gene (STX11; {605014}) on chromosome 6q24; and FHL5 ({613101}), caused by mutation in syntaxin-binding protein-2 (STXBP2; {601717}), which is an interaction partner of STX11, on chromosome 19p13.\n\nBefore the identification of mutations in the RAG1 ({179615}) and RAG2 ({179616}) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.\n\nMutation in the HAVCR2 gene ({606652}) on chromosome 5q23 causes an inflammatory disorder that is sometimes associated with HLH (SPTCL; {618398}). Mutation in the RC3H1 gene ({609424}) on chromosome 1q25 causes a hyperinflammatory disorder with HLH-like features (IMDYSHI; {618998})." +267730,{1:Escobar and Bixler (1975)} described a family with reticulum cell sarcoma in at least 4 successive generations. All 5 in the sibship of the first generations were affected. +267740,{1:Cohan et al. (1979)} described adult Ethiopian brother and sister with this combination. +267750,"Knobloch syndrome is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia (summary by {1:Aldahmesh et al., 2011})." +267760,"{1:MacKay et al. (1987)} described a seemingly 'new' autosomal recessive syndrome, a progressive pigmentary retinal degeneration, characterized by nyctalopia, visual field restriction, and cystic macular degeneration in younger patients and a macula of nonspecific atrophic appearance in older patients. Seven patients in 1 family were affected. Each patient had hyperlopia and nanophthalmos with diffuse scleroidal thickening on ultrasound. Younger patients had slitlike anterior chamber angles; older patients developed progressive synechial angle closure and eventual glaucoma. On electroretinography, younger patients had absent rod signals, with normal cone wave form and near-normal b-wave amplitudes but markedly delayed cone b-wave implicit times. Older patients had severely diminished or extinguished electroretinograms. Four brothers in 1 sibship were affected; one of the brothers, married to a first cousin, had 3 affected children out of 4, including identical twins." +267800,"Reticular pigmentary retinal dystrophy is a form of patterned dystrophy (see MDPT1, {169150}) characterized by a reticular pattern of pigmentation that likely appears in infancy and may be fully developed at age 15 years. Indirect funduscopy has shown that the condition is bilateral and symmetric and that the pigmentary deposits are localized below the neuroepithelium, very likely in the pigment epithelium. The reticulum extends from the macula in all directions, sparing the midperiphery and periphery. Visual acuity is unaffected or only minimally affected in advanced stages. Retinal function testing is normal, although the electrooculogram and dark adaptation can be at the lower limit of normal values (summary by {2:Schauwvlieghe et al., 2013})." +267900,{1:Frenkel and Russe (1967)} described a 13-year-old boy with this combination. His 10-year-old sister had less extensive retinal telangiectases and impairment of delayed hypersensitivity but no deficiency of gammaglobulin. +268000,"Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people ({59:Veltel et al., 2008}). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see {190900}), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see {276900}). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by {41:Kaiser et al., 2004}).\n\n<Subhead> Juvenile Retinitis Pigmentosa\n\nAutosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (see {204000}), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa ({31:Gu et al., 1997}).\n\nAutosomal recessive forms of juvenile retinitis pigmentosa can be caused by mutation in the SPATA7 ({609868}), LRAT ({604863}), and TULP1 ({602280}) genes (see LCA3, {604232}, LCA14, {613341}, and LCA15, {613843}, respectively).\n\nAn autosomal dominant form of juvenile retinitis pigmentosa (see {604393}) is caused by mutation in the AIPL1 gene ({604392})." +268010,"{1:Reinstein and Chalfin (1971)} reported a syndrome of inverse retinitis pigmentosa (predominant pigmentation around the disc and macula), hypogenitalism, and sensorineural deafness in 2 sisters and a brother, offspring of first-cousin Ashkenazi parents. Deafness progressed slowly after about ages 11, 35, and 40 years. Inverse retinitis pigmentosa differs from the usual type in the absence of night blindness, early loss of central vision, and often a preference for dim illumination." +268020,"{2:Edwards et al. (1976)} described a family in which 3 brothers and a sister had retinitis pigmentosa, deafness, and mental retardation. Nystagmus, acanthosis nigricans and multiple keloids were also present. The males had gynecomastia, small testes, and mild subvirilization. The only indication of hypogonadism in the female was oligomenorrhea. Disturbance of glucose metabolism and hyperinsulinism were demonstrated in some. {1:Boor et al. (1993)} described affected brother and sister of Moroccan origin who had first-cousin parents. They had diabetes mellitus with hyperinsulinism, insensitive insulin receptors, and acanthosis nigricans. Other features were pigmentary retinopathy, secondary cataracts, labyrinthine deafness, mental retardation, and cerebral atrophy. They were disproportionately short with relatively broad hands and feet and slightly coarse face. The young woman, aged 18 years, had secondary amenorrhea and polycystic ovaries; her brother, aged 15 years, had gynecomastia and hypergonadotropic hypogonadism. This condition, in which the hypogonadism is secondary and polydactyly is not present, is similar to, but distinct from, the syndromes of Laurence-Moon ({245800}) and Biedl-Bardet ({209900}). It is distinguished from Alstrom syndrome ({203800}) by the presence of mental retardation and the absence of renal insufficiency. There are some similarities to Usher syndrome ({276900})." +268025,"Retinitis pigmentosa with onset of symptoms in the fifth or sixth decade is called senile retinitis pigmentosa. {1:Bonneau et al. (1992)} reported a family with 2 affected sisters whose parents were first cousins. Symptoms began in their fifties. The family originated from an area of France where consanguinity is not frequent. {2:Grondahl (1987)} described a Norwegian family in which 3 sibs had RP diagnosed at 58, 61, and 57 years of age; the parents came from the same Norwegian island and might have been consanguineous. In a survey of clinical aspects of RP in 93 families, {3:Kaplan et al. (1990)} found that autosomal recessive RP represented 21.5% of cases or 25.8% if isolated cases with consanguineous parents were considered. They found 2 main clinical profiles: one type was characterized by precocious onset (mean age, 7.5 years) and severe progression, whereas the second type occurred later (mean age, 17 years) and had a milder clinical course. RP with late onset (senile RP) may represent a third type of autosomal recessive retinitis pigmentosa." +268060,"{2:Traboulsi et al. (1988)} described a brother and sister, born to parents related as third cousins, who had pigmentary retinopathy in a pericentral distribution. The retinopathy was noted in infancy when the sibs were examined for strabismus. The optic discs, maculae, and retinal vessels were normal. Both sibs had moderate hyperopic astigmatism and esotropia. The fundus and visual acuity remained unchanged for 9 and 13 years in the brother and sister, respectively. Results of eye examinations in the father, mother, and older sister were normal. The stability of the retinal findings in visual acuity suggested a long-term favorable prognosis. {2:Traboulsi et al. (1988)} found 18 well-documented cases of pericentral pigmentary retinopathy in the literature. Although recessive inheritance had been suggested, it had never been substantiated in any of the reports. Disorders that have been labeled as central pigmentary retinopathy or inverse retinitis pigmentosa include cone-rod dystrophy ({120970}), Stargardt disease ({248200}), and Best disease ({153700}).\n\n{1:Sandberg et al. (2005)} studied 18 patients, aged 32 to 65 years, with pericentral retinitis pigmentosa with follow-up for 3 to 26 years. Estimated mean annual rates of decline of remaining ocular function were 1.2% for visual acuity, 1.9% for visual field area, and 2.9% for electroretinogram amplitude for 30 Hz flashes. {1:Sandberg et al. (2005)} noted that these rates were generally slower than those previously reported for patients with typical forms of retinitis pigmentosa. Their patient sample included 2 pairs of affected sibs with normal parents and otherwise isolated cases.\n\nSee {180210} for a possible autosomal dominant form of pericentral pigmentary retinopathy." +268200,"Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome ({232600}), carnitine palmitoyltransferase deficiency (see {255110}), and the Creteil variety of phosphoglycerate kinase deficiency ({311800}), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. ({6:Ramesh and Gardner-Medwin, 1992}).\n\nSee {160010} for discussion of a possible autosomal dominant form of myglobinuria.\n\nSevere rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia ({145600}), an autosomal dominant disorder." +268240,"Rheumatic fever (RF) is a delayed sequel to throat infection by Streptococcus pyogenes and affects susceptible untreated children. The disease manifests as polyarthritis, carditis, chorea, erythema marginatum, and/or subcutaneous nodules. Nearly 75% of affected children display arthritis and 30 to 45% develop carditis, which causes heart damage with pericardial, myocardial, and endocardial involvement followed by progressive and permanent valvular lesions leading to rheumatic heart disease (RHD) (summary by {2:Guilherme et al., 2007})." +268300,"Roberts-SC phocomelia syndrome (RBS) is a rare autosomal recessive disorder clinically characterized by prenatal-onset growth retardation that continues in the postnatal period, extremity malformations, craniofacial anomalies, impaired intellectual development, and cardiac and renal anomalies. Prenatal-onset growth retardation may be mild to severe. The upper limbs are more affected than the lower limbs, where variations from tetraphocomelia (symetrical limb reduction) to hypomelia arising from mesomelic shortness are seen. Elbow and knee contractures, reduction in the number and length of fingers, thumb aplasia and hypoplasia, and clinodactyly may also be observed. Severely affected patients may die during pregnancy or the neonatal period, whereas slightly affected patients will reach adulthood (summary by {14:Goh et al., 2010} and {48:Sezer et al., 2019})." +268305,"Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding (summary by {2:Favaro et al., 2011})." +268310,"Autosomal recessive Robinow syndrome-1 is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by {27:van Bokhoven et al., 2000}).\n\n<Subhead> Genetic Heterogeneity of Robinow Syndrome\n\nAutosomal recessive Robinow syndrome-2 (RRS2; {618529}) is caused by mutation in the NXN gene ({612895}) on chromosome 17p13.\n\nSee also autosomal dominant Robinow syndrome-1 (DRS1; {180700}), caused by mutation in the WNT5A gene ({164975}) on chromosome 3p; DRS2 ({616331}), caused by mutation in the DVL1 gene ({601365}) on chromosome 1p36; and DRS3 ({616894}), caused by mutation in the DVL3 gene ({601368}) on chromosome 3q27." +268315,"Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (RCDFRD) is characterized by onset of hearing impairment and reduced vision within the first 5 years of life. Renal dysfunction results in rickets-like skeletal changes, and death may occur in childhood or young adulthood due to renal failure ({1:Beighton et al., 1993})." +268320,"On the island of Rodrigues in the Indian Ocean, {1:Wallis and Beighton (1992)} identified a brother and sister with moderately severe mental retardation, blindness due to severe ocular malformations (microphthalmia, microcornea, and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge with distal flaring of the nose and prominent ears), fine and sparse hair, and malaligned teeth. {1:Wallis and Beighton (1992)} emphasized, possibly inappropriately, the hair and dental changes in entitling their report." +268400,"Rothmund-Thomson syndrome type 2 (RTS2) is an autosomal recessive disorder characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life. The skeletal abnormalities may be overt (frontal bossing, saddle nose, and congenital radial ray defects) and/or subtle (visible only by radiographic analysis) (summary by {14:Larizza et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Rothmund-Thomson Syndrome\n\nRothmund-Thomson syndrome type 1 ({618625}) is caused by mutation in the ANAPC1 gene ({608473}) on chromosome 2q13." +268500,"{2:Rowley et al. (1961)} described a 'new' syndrome in 3 of 6 children. Features were growth retardation, poor muscular development, scanty adipose tissue, recurrent pulmonary infection, atelectasis, and right ventricular hypertrophy. One survivor had amino aciduria without elevation of serum amino acids and increased plasma unesterified fatty acid concentration ({1:Rosenberg et al., 1961}). The affected sibs were 2 boys and a girl. The disorder is sometimes referred to as the 'Busby syndrome,' for the surname of the affected family." +268700,"Saccharopinuria, also known as hyperlysinemia type II, is an autosomal recessive metabolic condition with few, if any, clinical manifestations. Hyperlysinemia type II and hyperlysinemia type I ({238700}) both result from deficiency of the bifunctional enzyme AASS ({605113}) on chromosome 7q31. The AASS gene encodes lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase, which catalyze, respectively, the sequential conversion of lysine to saccharopine and saccharopine to alpha-aminoadipic semialdehyde and glutamate (summary by {11:Tondo et al., 2013}). In hyperlysinemia type I, both enzymatic functions of AASS are defective and patients have increased serum lysine and possibly increased saccharopine; in hyperlysinemia type II, most of the first enzymatic function is retained, and patients tend to have isolated saccharopine increase ({5:Cox, 1985}; {4:Cox et al., 1986})." +268800,"Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease ({272800})." +268850,"The Richieri-Costa/Guion-Almeida syndrome is characterized by mild mental retardation, short stature, microbrachycephaly, ptosis, esotropia, cleft lip/palate ({4:Richieri-Costa and Guion-Almeida, 1992})." +269150,"Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia (summary by {8:Hoischen et al., 2010})." +269160,"{1:Brunelli et al. (1996)} described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions ({11:Wolpert and Barnes, 1992}). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips ({11:Wolpert and Barnes, 1992}). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness.\n\nSchizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see {236100})." +269200,"Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. Chronic candidiasis is not present. APS2 may occur at any age and in both sexes, but is most common in middle-aged females and is very rare in childhood (summary by {3:Betterle et al., 2004}).\n\nSee {240300} for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1)." +269250,"Schneckenbecken dysplasia (SHNKND) is a perinatally lethal skeletal dysplasia. The German term 'Schneckenbecken' refers to the distinctive, snail-like appearance of the ilia that results from a medial bone projection from the inner iliac margin. Other hallmarks of the disorder include thoracic hypoplasia, severe flattening of the vertebral bodies, and short, thick long bones (summary by {6:Hiraoka et al., 2007})." +269300,"Craniometadiaphyseal dysplasia (CRMDD) is characterized clinically by macrocephaly with frontal prominence, dental hypoplasia, and increased bone fragility. Diagnostic radiologic features include thin bones in the superior part of calvaria with prominent wormian bones, diaphyseal widening of the long tubular bones in early childhood with wide undermineralized metaphyses in older individuals, widened ribs and clavicles, and broadening of short tubular bones with increased transparency and thin cortices (summary by {1:Dhar et al., 2010})." +269400,"Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {2:Cheong et al., 2016}).\n\nIn sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by {8:Smith and Traboulsi, 2012}).\n\nIsolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by {7:Nischal, 2007})." +269500,"Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by {8:Brunkow et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Sclerosteosis\n\nSclerosteosis-2 (SOST2; {614305}) is caused by mutation in the LRP4 gene ({604270}) on chromosome 11p11." +269650,"In the usual patient with selective IgA deficiency ({137100}), both serum and secretory IgA are absent. {3:Strober et al. (1976)} described a 15-year-old boy with chronic intestinal candidiasis who had normal serum IgA levels and no IgA in his secretions. Unlike normal persons as well as patients with selective IgA deficiency, he had no detectable free secretory component in saliva and jejunal juice. This component is synthesized by epithelial cells; later called polymeric immunoglobulin receptor ({1:Mostov et al., 1984}), it transports dimeric IgA produced by mucosal B cells through the epithelial cells into the secretions. It was thought that the patient might have a genetic defect in its synthesis; however, {2:Plaut and Ridker (1992)} provided a follow-up which suggested that the secretory component deficiency was an acquired, transient defect. The patient reported by {3:Strober et al. (1976)} sought medical consultation because of concern that his children might inherit a defect in secretory immunity. Except for intermittent, self-limited diarrhea, he had been in excellent health since the late 1970s. Mixed saliva obtained from the patient in June 1991 contained secretory component according to Western blot analysis. Furthermore, the IgA content of the saliva was within the normal range." +269700,"Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes ({5:Garg, 2004}).\n\nFor a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 ({608594})." +269720,"For a phenotypic description and a discussion of genetic heterogeneity of benign neonatal seizures, see BFNS1 ({121200})." +269800,"{1:Constantinidis and De Ajuriaguerra (1965)} studied the brain from 64 elderly persons, from 30 families, with various psychiatric diagnoses, for the presence of senile plaques independent of associated cerebral lesions. Of 29 pairs of sibs, 22 pairs had senile plaques, 4 pairs were unaffected, and 3 pairs had 1 affected. Although the authors postulated recessive inheritance, it should be noted that of 10 two-generation observations, parent and child were affected in 3, and 1 generation only in 7." +269860,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {8:Huber and Cormier-Daire, 2012} and {13:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}). Patients with a clinical diagnosis of Beemer-Langer syndrome have been found to carry mutations in the IFT80 gene ({611177}); see SRTD2, {611263}.\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500})." +269870,"{1:Schinzel and Bernasconi (1990)} reported the cases of a 13-year-old boy and his 28-year-old sister who had short stature, obesity, and a pattern of minor anomalies including a sloping, narrow forehead; small ears; narrow nose with prominent bridge and long septum; receding mandible; and short limbs with brachydactyly and clinodactyly of the fifth fingers. Intelligence was normal. The parents were normal but remotely consanguineous. Both had hypermetropia. The sister was 138 cm tall and managed the family's butchery. At age 22, the brother had reached the height of 142 cm." +269880,"'Short,' the mnemonic designation for this syndrome, is an acronym: S = stature; H = hyperextensibility of joints or hernia (inguinal) or both; O = ocular depression; R = Rieger anomaly; T = teething delay. The name was given by {8:Gorlin (1975)}, who described the syndrome in 2 brothers.\n\n{7:Dyment et al. (2013)} noted that the features listed in the acronym for SHORT syndrome do not capture the full range of the clinical phenotype, which can include a recognizable facial gestalt consisting of triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, as well as near-universal partial lipodystrophy, insulin resistance, nephrocalcinosis, and hearing deficits. Notably, both developmental milestones and cognition are normal for individuals with SHORT syndrome." +269920,"Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine ({28:Verheijen et al., 1999})." +269921,"Sialuria is a rare inborn error of metabolism in which excessive free sialic acid is synthesized. Clinical features include hepatosplenomegaly, coarse facial features, and varying degrees of developmental delay (summary by {2:Enns et al., 2001})." +270100,"Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another ({6:Srivastava, 1997}). Heterotaxy is a clinically and genetically heterogeneous disorder.\n\nFor a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 ({306955})." +270150,"Sjogren syndrome is an autoimmune disease that mainly affects the exocrine glands. It is clinically characterized by keratoconjunctivitis sicca and xerostomia ({2:Goransson et al., 2006}).\n\nSee {200400} for association of Sjogren syndrome with achalasia in sisters." +270200,"Sjogren-Larsson syndrome is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by {14:Lossos et al., 2006})." +270300,"Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by {5:Hacham-Zadeh and Holubar, 1985}).\n\nGeneralized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B ({15:Traupe, 1989}; {8:Judge et al., 2004}). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by {13:Oji et al., 2010}). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by {11:Mallet et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Peeling Skin Syndrome\n\nPeeling skin syndrome-2 (PSS2; {609796}), an acral form of the disorder that mainly involves palmar and plantar skin, is caused by mutation in the TGM5 gene ({603805}) on chromosome 15q15. Peeling skin syndrome-3 (PSS3; {616265}) is caused by mutation in the CHST8 gene ({610190}) on chromosome 19q13. Peeling skin syndrome-4 (PSS4; {607936}) is caused by mutation in the CSTA gene ({184600}) on chromosome 3q21. Peeling skin syndrome-5 (PSS5; {617115}) is caused by mutation in the SERPINB8 gene ({601697}) on chromosome 18q22. PSS6 ({618084}) is caused by mutation in the FLG2 gene ({616284}) on chromosome 1q21." +270400,"Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital malformation and mental retardation syndrome. Although historically a clinical distinction was often made between a classic 'type I' disorder and a more severe 'type II' disorder, in reality the syndrome constitutes a clinical and biochemical continuum from mild to severe ({80:Opitz et al., 1987}; {18:Cunniff et al., 1997}; {53:Kelley, 1998}).\n\nThe discovery of the deficiency of 7-dehydrocholesterol reductase as a causative factor of the SLO syndrome ({98:Tint et al., 1994}) made this syndrome the first true metabolic syndrome of multiple congenital malformations. A multidisciplinary National Institute of Child Health and Human Development (NICHD) conference of the SLO syndrome reviewed different implications of this discovery and proposed further studies in this field. A detailed report on this conference and abstracts of presentations were provided by {78:Opitz and de la Cruz (1994)}. Observations presented at an NICHD RSH/SLOS conference in September 1995 were reviewed by {52:Kelley (1997)}. {53:Kelley (1998)} referred to SLOS as a metabolic malformation syndrome, but suggested that this may be an exception. Most mutations that had been related to multiple congenital malformation syndromes, i.e., disturbances of the body plan, have not been disorders of intermediary metabolism but, instead, mutations of homeobox genes and other transcriptional regulators and signaling systems.\n\n{80:Opitz et al. (1987)} gave a presumedly complete bibliography of the SLO syndrome, which was updated by {79:Opitz et al. (1994)} and included almost 200 references. They concluded that lumping SLO syndrome with the Pallister-Hall hamartoblastoma syndrome (PHS; {146510}) is not justified. In a given severe case, differentiation from the Meckel syndrome ({249000}) may be a challenge.\n\n{36:Herman (2003)} reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: SLOS, desmosterolosis ({602398}), X-linked dominant chondrodysplasia punctata (CDPX2; {302960}), CHILD syndrome ({308050}), lathosterolosis ({607330}), and hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM; {215140})." +270425,"{1:Beutler et al. (1983)} demonstrated that red cell ouabain binding measures Na-K-ATPase and that the level of this activity is genetically determined. The level of the enzyme activity is different among racial and ethnic groups, relatively high levels being found in non-Jewish white subjects, particularly those of Scandinavian ancestry. Black, Asian and Jewish subjects had lower Na-K-ATP-ase activity. No effect of obesity or food intake, previously claimed, could be demonstrated. Data from family as well as ethnic studies supported the conclusion of a genetic basis, but no formal genetic analysis was performed. The familial nature of the number of sodium pump sites was suggested also by studies in twins by {2:De Luise and Flier (1985)}. {3:Hasstedt et al. (1989)} measured the number of sodium pump sites on erythrocytes from 1,847 individuals in 80 Utah kindreds ascertained through probands with cardiovascular disease. Likelihood analysis supported recessive inheritance of high pump number. The major locus explained 14% of the variance in pump number; polygenic inheritance explained another 63.4%. Homozygotes for the recessive allele occurred with a frequency of 1.74% and had a mean pump number estimated as 566 sites/RBC as compared with a mean of 312 sites/RBC for the other genotypes." +270450,"Patients with mutations in the receptor for insulin-like growth factor I show intrauterine growth retardation and postnatal growth failure, resulting in short stature and microcephaly. Other features may include delayed bone age, developmental delay, and dysmorphic features." +270500,"This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy ({1:Hogan and Bauman, 1977})." +270550,"Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a complex neurodegenerative disorder usually characterized by early childhood onset of cerebellar ataxia, pyramidal tract signs, and peripheral neuropathy. Most patients become wheelchair-bound; cognitive function is usually not affected. Some patients may have atypical features, such as later onset or initial presentation of peripheral neuropathy (summary by {2:Baets et al., 2010})." +270700,"Spastic paraplegia-15 (SPG15) is an autosomal recessive neurodegenerative disorder characterized by progressive spasticity primarily affecting the lower limbs. It is a complex form of spastic paraplegia, associated with other neurologic dysfunction, including variable mental retardation, hearing and visual defects, and thin corpus callosum (summary by {5:Goizet et al., 2009}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A ({270800})." +270750,"Spastic paraplegia-23 (SPG23) is an autosomal recessive neurologic disorder characterized by childhood-onset spastic paraplegia resulting in gait difficulties and associated with pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. Some patients may also have a peripheral neuropathy (summary by {5:Lee et al., 2017})." +270800,"Spastic paraplegia-5A (SPG5A) is an autosomal recessive neurologic disorder with a wide phenotypic spectrum. Some patients have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia (summary by {3:Arnoldi et al., 2012}).\n\nThe hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of {6:Fink et al. (1996)} and {7:Fink (1997)}. Inheritance is most often autosomal dominant (see {182600}), but X-linked (see {303350}) and autosomal recessive forms also occur.\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Spastic Paraplegia\n\nAutosomal recessive forms of SPG include SPG7 ({607259}), caused by mutation in the paraplegin gene ({602783}) on chromosome 16q24; SPG9B ({616586}), caused by mutation in the ALDH18A1 gene ({138250}) on 10q24; SPG11 ({604360}), caused by mutation in the spatacsin gene ({610844}) on 15q21; SPG15 ({270700}), caused by mutation in the ZFYVE26 gene ({612012}) on 14q24; SPG18 ({611225}), caused by mutation in the ERLIN2 gene ({611605}) on 8p11; SPG20 ({275900}), caused by mutation in the spartin gene ({607111}) on 13q12; SPG21 ({248900}), caused by mutation in the maspardin gene ({608181}) on 15q21; SPG26 ({609195}), caused by mutation in the B4GALNT1 gene ({601873}) on 12q13; SPG28 ({609340}), caused by mutation in the DDHD1 gene ({614603}) on 14q22; SPG30 ({610357}), caused by mutation in the KIF1A gene ({601255}) on 2q37; SPG35 ({612319}), caused by mutation in the FA2H gene ({611026}) on 16q23; SPG39 ({612020}), caused by mutation in the PNPLA6 gene ({603197}) on 19p13.3; SPG43 ({615043}), caused by mutation in the C19ORF12 gene ({614297}) on 19q12; SPG44 ({613206}), caused by mutation in the GJC2 gene ({608803}) on 1q42; SPG45 ({613162}), caused by mutation in the NT5C2 gene ({600417}) on 10q24; SPG46 ({614409}), caused by mutation in the GBA2 gene ({609471}) on 9p13; SPG48 ({613647}), caused by mutation in the KIAA0415 gene ({613653}) on 7p22.1; SPG54 ({615033}), caused by mutation in the DDHD2 gene ({615003}) on 8p11; SPG55 ({615035}), caused by mutation in the MTRFR gene on 12q24; SPG56 ({615030}), caused by mutation in the CYP2U1 gene ({610670}) on 4q25; SPG57 ({615658}), caused by mutation in the TFG gene ({602498}) on 3q12; SPG61 ({615685}), caused by mutation in the ARL6IP1 gene ({607669}) on 1p12; SPG62 ({615681}), caused by mutation in the ERLIN1 gene on 10q24; SPG63 ({615686}), caused by mutation in the AMPD2 gene ({102771}) on 1p13; SPG64 ({615683}), caused by mutation in the ENTPD1 gene ({601752}) on 10q24; SPG72 ({615625}), caused by mutation in the REEP2 gene ({609347}) on 5q31; SPG74 ({616451}), caused by mutation in the IBA57 gene ({615316}) on 1q42; SPG75 ({616680}), caused by mutation in the MAG gene ({159460}) on 19q13; SPG76 ({616907}), caused by mutation in the CAPN1 gene ({114220}) on 11q13; SPG77 ({617046}), caused by mutation in the FARS2 gene ({611592}) on 6p25; SPG78 ({617225}), caused by mutation in the ATP13A2 gene ({610513}) on 1p36; SPG79 ({615491}), caused by mutation in the UCHL1 gene ({191342}) on 4p13; SPG81 ({618768}), caused by mutation in the SELENOI gene ({607915}) on 2p23; SPG82 ({618770}), caused by mutation in the PCYT2 gene ({602679}) on 17q25; SPG83 ({619027}), caused by mutation in the HPDL gene ({618994}) on 1p34; SPG84 ({619621}), caused by mutation in the PI4KA gene ({600286}) on 22q11; SPG85 ({619686}), caused by mutation in the RNF170 gene ({614649}) on 8p11; and SPG86 ({619735}), caused by mutation in the ABHD16A gene ({142620}) on 6p21.\n\nAdditional autosomal recessive forms of SPG have been mapped to chromosomes 3q (SPG14; {605229}), 13q14 (SPG24; {607584}), 6q (SPG25; {608220}), and 10q22 (SPG27; {609041}).\n\nA disorder that was formerly designated SPG49 has been reclassified as hereditary sensory and autonomic neuropathy-9 with developmental delay (HSAN9; {615031})." +270805,"{1:Sommerfelt et al. (1991)} described a seemingly new disorder in 4 sibs, the offspring of first-cousin parents: hereditary spastic paraplegia with epileptic myoclonus. The age of onset varied from the prenatal period to 10 years of age. The main finding when the sibs were examined between 26 and 42 years of age were spastic paraplegia, epileptic myoclonus, distal muscle atrophy, mental retardation or dullness, ataxia, hearing loss, and a progressive course. Differences in phenotypic expression were striking. One sister had progressive epileptic myoclonus, ataxia, and only slight distal wasting; if seen alone, the diagnosis of Unverricht-Lundborg disease (progressive myoclonic epilepsy; {254800}) might be entertained. The patients were described as having massive, build-up myoclonic 'cascade' seizures." +270850,"{2:Heijbel and Jagell (1981)} described 3 sibs (2 males, 1 female) with what they considered to be a new syndrome of spastic paraplegia, glaucoma, and mental retardation. Another related female was also affected. The 3 sibs had 4 other sibs with essential myoclonus. {1:Chenevix-Trench et al. (1986)} described a second sibship from a consanguineous marriage in which 3 brothers were affected with the triad of spastic paresis, mental retardation, and glaucoma. The parents were first cousins once removed." +270900,{1:Davison and Rabiner (1940)} described 2 brothers and a sister with onset of symptoms in the late 20s. Autopsy was performed in one. It is not clear that an entity distinct from others discussed here was involved. +270960,"Azoospermia, a condition in which there are no sperm present in the ejaculate, has historically been divided into 2 broad categories, obstructive (e.g., {277180}) and nonobstructive. Among the genetically based, inherited nonobstructive causes are defects of spermatogenesis, which may interrupt the development of the sperm at various stages, either before (e.g., {415000}) or during meiosis. SPGF4 is a form of azoospermia due to perturbations of meiosis.\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150}).\n\n<Subhead> Recurrent Pregnancy Loss\n\nMiscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks' gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by {6:Rai and Regan, 2006}).\n\nPregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks' gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for recurrent pregnancy loss include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by {8:Warren and Silver, 2008}).\n\nFor a discussion of genetic heterogeneity of recurrent pregnancy loss, see RPRGL1 ({614389})." +271109,"In an enclave in the northern part of the Netherlands which had remained Roman Catholic from the 16th century in an otherwise entirely Protestant part of the country, {1:Staal et al. (1975)} described 2 brothers and a sister in their forties with a very early onset of spinal muscular atrophy with associated mental retardation. Both the SMA and the mental retardation were nonprogressive. All 3 had a small skull. The family was ascertained in the course of a study of erythropoietic protoporphyria ({177000}) which was found in 1 of the affected sibs and in 2 of the neurologically normal sibs. One of the 3 sibs with SMA had a mitten-like syndactyly of the left hand. The parents were related in a complex manner, consistent with the cultural isolation referred to earlier." +271110,"A tentatively distinct form of autosomal recessive proximal spinal muscular atrophy, characterized by microcephaly and mental subnormality, was reported by {1:Spiro et al. (1967)} in 3 brothers." +271200,"In the Ryukyu Islands of Japan, {1:Kondo et al. (1970)} described a form of spinal muscular atrophy, which may be different from any previously described. The disease began in early infancy and caused symmetric proximal muscular atrophy, more severe in the lower than in the upper extremities. Fasciculations, slight kyphoscoliosis, and pes cavus were seen. The evidence of recessive inheritance is convincing. A common ancestor of all the patients was thought to be a lord who lived in northern Okinawa from 1314 to 1429. The mutation must have occurred before the 14th century. The present distribution of cases could be explained by the activities of ancestors several centuries ago. Whether this disease, which resembles limb-girdle muscular dystrophy (a heterogeneous entity), is separate from Kugelberg-Welander disease (also a heterogeneous entity) is not certain." +271220,Recessive inheritance was displayed by the families reported by {2:Feigenbaum and Munsat (1970)} and {1:Emery (1971)}. +271245,"Mitochondrial DNA depletion syndrome-7 is an autosomal recessive severe neurodegenerative disorder characterized primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy. Although originally classified as a form of spinocerebellar ataxia (see, e.g., SCA1, {164400}) ({4:Koskinen et al., 1994}), it has been reclassified as a mitochondrial DNA depletion syndrome ({1:Hakonen et al., 2008}) based on the finding of mtDNA depletion in the brain and liver of affected individuals.\n\nFor a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 ({603041})." +271270,"In 2 brothers and a sister, aged 7 to 13 years, {1:Sanchez-Corona et al. (1985)} observed a seemingly 'new' autosomal recessive hereditary ataxia syndrome. Features included unusual facies (gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia." +271400,"Isolated congenital asplenia is a rare cause of primary immunodeficiency. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome ({208530}) (summary by {11:Mahlaoui et al., 2011})." +271510,"Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by {1:Burrage et al., 2019})." +271530,"{9:Rock et al. (2008)} provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (BCYM1B; {271630}) forms, which are inherited in an autosomal recessive fashion. Both forms of type 1 are characterized by scoliosis, platyspondyly with rectangular and elongated vertebral bodies, overfaced pedicles, and irregular, narrow intervertebral spaces. The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Type 2 brachyolmia (BCYM2; {613678}), sometimes referred to as the Maroteaux type, is also an autosomal recessive disorder, primarily distinguished from type 1 by rounded vertebral bodies and less overfaced pedicles. Some cases are associated with precocious calcification of the falx cerebri. Type 3 brachyolmia (BCYM3; {113500}) is an autosomal dominant form, caused by mutation in the TRPV4 gene ({605427}), with severe kyphoscoliosis and flattened, irregular cervical vertebrae. Paradoxically, although the limbs are mildly shortened in all types of brachyolmia, they show minimal epiphyseal and metaphyseal abnormalities on radiographs. Type 4 brachyolmia (BCYM4; {612847}) is an autosomal recessive form, caused by mutation in the PAPSS2 gene ({603005}), with mild epiphyseal and metaphyseal changes." +271630,"For a phenotypic description and discussion of heterogeneity of brachyolmia, see {271530}." +271640,"Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by {12:Smith et al., 1999}). Patients with a similar phenotype and fractures have been described ({9:Malfait et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Spondyloepimetaphyseal Dysplasia with Joint Laxity\n\nAlso see SEMDJL2 ({603546}), caused by mutation in the KIF22 gene ({603213}) on chromosome 16p11, and SEMDJL3 ({618395}), caused by mutation in the EXOC6B gene ({607880}) on chromosome 2p13." +271930,"Bilateral striatal necrosis (BSN) encompasses a heterogeneous group of neurologic disorders with different causation. Familial infantile striatal degeneration is rare and can be inherited as an autosomal recessive or mitochondrial (see {500003}) disorder. The familial form has an insidious onset and a slowly progressive course; the sporadic form is associated with acute systemic illness. Many features of BSN overlap with Leigh syndrome ({256000}) and certain metabolic disorders, including glutaric acidemia I ({231670}) and methylmalonic aciduria ({251000}). See also Aicardi-Goutieres syndrome ({225750}) ({5:Mito et al., 1986}; {3:De Meirleir et al., 1995}).\n\n<Subhead> Genetic Heterogeneity of Stiatonigral Degeneration\n\nChildhood-onset striatonigral degeneration ({617054}) is caused by mutation in the VAC14 gene ({604632}) on chromosome 16q22.\n\nSee also adult-onset autosomal dominant striatal degeneration (ADSD; {609161}), caused by mutation in the PDE8B gene ({603390}) on chromosome 5q13." +271950,{1:Gale et al. (1974)} reported this anomaly in a brother and sister. No familial cases had been reported previously. {2:Richardson et al. (1991)} described one family in which a mother and daughter were affected and a second family in which a boy was found to have a subaortic ridge after repair of aortic coarctation and a maternal uncle likewise had 'fixed' subaortic stenosis. +271960,"From Turkey, {2:Onat et al. (1984)} described a family in which the parents were second cousins (according to the pedigree; the authors stated that they were 'offspring of full siblings,' i.e., first cousins) and both had short stature, obstructive lung disease, hoarseness and upturned nose. The father also had aortic stenosis and inguinal hernia; he died suddenly at age 47, having had exertional angina pectoris from age 42. The mother was said to have short, thin, atrophic vocal cords and false cords which assisted phonation. Of 6 offspring, 4 had clinical signs of aortic stenosis. The oldest sib, a woman 147 cm tall, died at age 29 and showed a fibrous ring just below the aortic cusps, together with fibrous thickening of the atrioventricular valves (especially of the mitral valve) and marked shortening of the chordae tendineae. The second sib died at age 23; aortic stenosis had been demonstrated. He was 150 cm tall. The fourth sib, 128 cm tall at age 22, had had inguinal hernia repaired at age 13, and showed severe kyphoscoliosis, congested episcleral veins (which were said to form a caput medusae in another sib), thin and atrophic vocal cords, and a fixed subaortic obstruction by echocardiographic, angiocardiographic and hemodynamic studies without signs of mitral stenosis. Wrist x-rays showed bilateral synostosis of the capitate and hamate bones. The authors favored autosomal dominant inheritance but recessive inheritance with pseudodominance seems quite possible. {1:Fryns and Van den Berghe (1979)} reported 2 sibs with discrete subvalvular aortic stenosis associated with corneal clouding, midfacial hypoplasia, and mental and growth retardation. Discrete subaortic stenosis is known to be progressive in nature, particularly during the growth period. {2:Onat et al. (1984)} observed progression in their patients." +271980,"Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GABA. The clinical features include developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances (summary by {20:Reis et al., 2012})." +272000,"Sucrosuria has been observed with mental deficiency in several cases. However, {2:Perry et al. (1959)} concluded that the association is coincidental. Furthermore, sucrosuria has not been proved to represent an inborn error. This is probably not a single gene disorder but rather a nonspecific syndrome due to atonic state of severely mentally retarded children, with absorption of undigested sucrose from the atonic bowel." +272100,"The disorder seems to begin rarely in early infancy. However, the paucity of myelin in the cerebral hemispheres during the first 4 to 6 months of life would make histopathologic classification on the basis of myelin breakdown difficult at this stage. Progression is usually subacute in pace. Cortical blindness is often a conspicuous feature. Sibs may show great differences in the site of the lesion, age of onset, and rate of progression ({2:Meyer and Pilkington, 1936}). All cases reported as familial Schilder disease are probably in fact sudanophilic cerebral sclerosis, Krabbe disease ({245200}), or metachromatic leukoencephalopathy ({250100}). If the term is to be preserved at all, its use should be confined to sudanophilic cerebral sclerosis. (The neurologic disorder in adrenoleukodystrophy is also referred to as Schilder disease ({300100}).)" +272120,"Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death ({19:Mage and Donner, 2004}).\n\n{35:Weese-Mayer et al. (2007)} provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways." +272150,"{3:Sugarman et al. (1974)} described a new form of brachydactyly of which a conspicuous feature was a nonarticulating great toe which was set dorsal and proximal to the usual position. The great toes were amputated. The fingers were very short and had no motion at the proximal interphalangeal joints ('symphalangism'). The consanguinity in the family and the presence of 7 other affected persons among the patient's relatives made autosomal recessive inheritance likely. Further information on the family was provided by {2:Fujimoto et al. (1982)}, who were impressed with abnormality of the proximal phalanges as the cardinal feature. {2:Fujimoto et al. (1982)} described an infant girl and a 14-year-old boy (Sugarman's proband), with the same mother but different fathers, who showed brachydactyly with major shortening in the proximal phalanges. The first toes were proximally placed and medially curved. The brother had no motion in the proximal interphalangeal joints of the hands. Both first toes had been surgically amputated. Radiographs of his hands (Fig. 7) showed a double first metacarpal bilaterally, a finding confirmed by examination of the original radiographs ({1:Fujimoto, 1982}). The fifth fingers had only 2 phalanges; the proximal and distal phalanges did not show bony fusion. The mother's hands were normal. Autosomal dominant inheritance with reduced penetrance was proposed by {2:Fujimoto et al. (1982)}. The mother and the father of the older child were related as first cousins once removed. The mother was born in Cuba and the father of the younger child in El Salvador. A paternal aunt of the mother had 3 children (out of 8) with the same anomaly; the 3 had a total of 17 children, all without abnormality of the hands and feet. Consanguinity of the paternal aunt and her husband was claimed by {3:Sugarman et al. (1974)}, but could not be confirmed by {2:Fujimoto et al. (1982)}." +272200,"Multiple sulfatase deficiency is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. The enzymatic defect affects the whole family of sulfatase enzymes; thus, the disorder combines features of metachromatic leukodystrophy ({250100}) and of various mucopolysaccharidoses (see, e.g., MPS6; {253200}). Affected individuals show neurologic deterioration with mental retardation, skeletal anomalies, organomegaly, and ichthyosis. Different types of MSD can be distinguished according to the age of onset: neonatal, late infantile (0 to 2 years), and juvenile (2 to 4 years). Neonatal MSD is the most severe form with a broad range of mucopolysaccharidosis-like symptoms and death within the first year of life. Late-infantile MSD, which includes the majority of cases, resembles late-infantile metachromatic leukodystrophy with progressive loss of mental and motor abilities and skeletal changes. There is also an attenuated form of late-infantile MSD with onset beyond the second year of life. Rare cases of juvenile-onset MSD have been reported with onset of symptoms in late childhood and slower progression ({6:Blanco-Aguirre et al., 2001}) (summary by {24:Schlotawa et al., 2011})." +272350,"{3:Summitt (1969)} described 2 brothers with craniosynostosis and syndactyly which was severe in one and mild in the other. Both were obese. Intelligence was normal. The skull was towered, as in Carpenter syndrome ({201000}). The parents were first cousins. Obesity was the presenting complaint, at age 6.5 years, in the sporadic case of {2:Sells et al. (1979)}. {1:Cohen et al. (1987)} concluded that Summitt syndrome and Goodman syndrome ({201020}) are variants of Carpenter syndrome." +272370,"Susceptibility to lysis by alloreactive natural killer (NK) cells is an autosomal recessive trait (thus differing from the behavior of conventional MHC products) ({1:Ciccone et al., 1990}; {1:Ciccone et al., 1990})." +272430,"Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by {6:Hahn et al., 2010}).\n\n{2:Buers et al. (2020)} provided a detailed review of Crisponi/CISS, including clinical features, diagnosis, and evolution of the disease, differential diagnosis, pathogenesis, and recommended management and treatment.\n\n<Subhead> Genetic Heterogeneity of Crisponi/Cold-Induced Sweating Syndrome\n\nCrisponi/cold-induced sweating syndrome-2 (CISS2; {610313}), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene ({607672}) on chromosome 11q13." +272440,"Filippi syndrome is characterized by short stature, microcephaly, syndactyly, intellectual disability, and facial dysmorphism consisting of bulging forehead, broad and prominent nasal bridge, and diminished alar flare. Common features include cryptorchidism, speech impairment, and clinodactyly of the fifth finger, Some patients exhibit visual disturbances, polydactyly, seizures, and/or ectodermal abnormalities, such as nail hypoplasia, long eyelashes, hirsutism, and microdontia (summary by {6:Hussain et al., 2014})." +272450,"{1:Laplane et al. (1972)} reported 2 brothers of Kabylian ancestry (the Kabyle are Berber people of northern Algeria) with a disorder they termed syndesmodysplasic dwarfism. Features were severe dwarfism and progressive stiff joints, including spine and hips. The skin was said to be normal." +272460,"Spondylocarpotarsal synostosis syndrome (SCT) is characterized by disproportionate short stature and spinal deformity. Clinical features include clubfeet, facial dysmorphism, dental enamel hypoplasia, cleft palate, joint laxity, and conductive hearing loss. Characteristic radiologic findings include block vertebrae and carpal and tarsal fusion. Delay in ossification of the epiphyses of carpal bones and epiphyseal dysplasia of the femur have been observed ({9:Salian et al., 2018}).\n\nSpondylocarpotarsal fusions in association with contractures and pterygia (see CPSKF1A, {178110} and CPSKF1B, {618649}) can be caused by mutation in the MYH3 gene ({160720})." +272600,"There appear to be several types. In one variety the ataxia is of the Marie type. Although the inheritance is usually dominant, recessive pedigrees have been observed ({2:Walsh, 1957}). In a second form the ataxia is of Friedreich type ({229300}). The inheritance is recessive. Mixed or more complex types of neurologic involvement with ataxia occur in a third type. As one would expect, this is a heterogeneous category. Refsum disease ({266500}) and abetalipoproteinemia ({200100}) give this combination of findings. See also ophthalmoplegia-plus ({530000}) and olivopontocerebellar atrophy III ({164500})." +272620,"Tardive dyskinesia is a debilitating motor disorder manifest as hyperkinetic, involuntary, repetitive movements predominantly of the orofacial region. It is a complication of treatment with so-called typical antipsychotic or neuroleptic agents, such as chlorpromazine or haloperidol, and is estimated to occur in 20 to 30% of chronic schizophrenics on long-term treatment ({3:Thelma et al., 2008})." +272650,"The Tatsumi clotting factor is said to be similar in its properties to Christmas factor but distinguishable from it by appropriate tests ({2:Yoshida et al., 1960}). Deficiency manifested by bleeding was observed in males and females in 2 consanguineous families. Clotting time was slightly prolonged, prothrombin consumption and thromboplastin generation were abnormal, and the bleeding time was long. {1:Kosaki et al. (1968)} suggested that Tatsumi factor is necessary for activation of Christmas factor by activated PTA." +272700,"Taurodontism (meaning 'bull teeth') is characterized by large pulp chambers, with changes usually most striking in the molars. The taurodont tooth lies deep in alveolar bone. The converse situation is cynodont (teeth with small pulp chambers and bodies lying totally above alveolar bone as in the dog--Gr. kyon). Taurodontism was a frequent finding in early man and is found today in races such as the Eskimos who use their teeth for cutting hides. {1:Coon (1962)} suggested that the trait might have selective advantage to such groups. The genetics is likely to be polygenic. {8:Shaw (1928)} claimed that the trait is inherited as an autosomal recessive. Dominant inheritance was suggested by the 2-generation pedigrees reported by {3:Goldstein and Gottlieb (1973)} and {2:Gamer and Zusman (1967)}. {10:Witkop and Rao (1971)} found no affected parents in 8 cases they investigated. {6:Jaspers and Witkop (1980)} pointed out association of taurodontism with X-chromosome aneuploidy. They also pointed out that it is a frequent trait, found in about 2.5% of adult Caucasians. While it may be viewed as an extension of a continuous trait of pulp chamber size, it occurs also in syndromes, especially those having an ectodermal defect, e.g., trichodentoosseous syndrome ({190320}) and otodental dysplasia ({166750}). The family reported by {5:Haunfelder (1967)} and by {9:Stenvik et al. (1972)} had affected sibs with a combination of scanty hair, oligodontia, and taurodontism (see {272980})." +272750,"The GM2-gangliosidoses are a group of disorders caused by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes, mainly of neuronal cells. GM2-gangliosidosis AB variant is characterized by normal hexosaminidase A (HEXA; {606869}) and hexosaminidase B (HEXB; {606873}) but the inability to form a functional GM2 activator complex. The clinical and biochemical phenotype of the AB variant is very similar to that of classic Tay-Sachs disease (see {272800}) ({5:Gravel et al., 2001})." +272800,"Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years." +272950,"Teebi-Shaltout syndrome is characterized by slow hair growth, scaphocephaly with prominent forehead, bitemporal depression, absence of primary teeth, camptodactyly, and caudal appendage with sacral dimple (summary by {1:Aldemir et al., 2013})." +273000,"{1:Dependorf (1912)} described bilateral fusion of the deciduous incisors in sisters, aged 4 and 5.5 years, and also a rarer condition, bilateral fusion of a deciduous mandibular canine with the second incisor. See {147250}." +273120,"From Japan, {2:Wakai et al. (1980)} described 2 teenage brothers with pineal teratoma. The parents were not related. Both showed upward gaze palsy and horizontal nystagmus with lateral gaze. One showed abnormal intracranial calcification on plain skull film. One presented at age 13 years with a 7-month history of polydipsia, polyuria and loss of appetite. The second presented at age 17 years with progressive right-sided hemiparesis and a 2-year history of diplopia. The familial occurrence of presacral teratoma is noted elsewhere ({176450}). As noted by {2:Wakai et al. (1980)}, medulloblastoma has been reported in sibs on a number of occasions and occurs as part of the basal cell nevus syndrome ({109400}). {1:Schimke (1983)} described a paraventricular germinoma in a 22-year-old male whose paternal uncle had a benign cystic teratoma removed from his mediastinum at the age of 18 years." +273150,"{2:Najjar et al. (1974)} described a Lebanese family in which 5 of 6 brothers, aged 4 months to 10 years, had small external genitalia with particularly small testes. The parents were first cousins. The 3 brothers of the mother were unaffected. Except for the small external genitalia, the patients were clinically and chromosomally normal. {2:Najjar et al. (1974)} predicted that in time these children would manifest hypergonadotropic hypogonadism. The disorder was first described by {1:Bergada et al. (1962)}, who observed 4 unrelated males at the Johns Hopkins Hospital." +273250,"SRXY11 is characterized by a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity depending on the duration of normal testicular function prior to the loss of testicular tissue. Approximately half of patients present with micropenis and bilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia ({4:da Silva et al., 2019}; {12:McElreavey et al., 2020}).\n\nThe testicular regression syndrome (TRS) was delineated by {17:Sarto and Opitz (1973)}, who called it the XY gonadal dysgenesis syndrome. It is characterized primarily by the absence of gonads in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian rudiments (or both) are present. The range of virilizing effects due to early testicular tissue extends from none in phenotypic females with only slightly hypoplastic normal external genitalia, well-formed but hypoplastic uterus, and well-formed tubes ({6:De Marchi et al., 1981}) to the anorchic phenotypic male ({7:Edman et al., 1977}). Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common, breast development is absent, and postpubertal eunuchoid habitus is the rule. Sometimes nongenital anomalies are present (summary by {16:Rosenberg et al., 1984})." +273300,"Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by {43:Rapley et al., 2000}).\n\n<Subhead> Genetic Heterogeneity of Testicular Germ Cell Tumors\n\nA locus for testicular germ cell tumors (TGCT1; {300228}) has been identified on chromosome Xq27." +273395,"Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects ({5:Niemann et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of tetraamelia syndrome\n\nTetraamelia syndrome-2 (TETAMS2; {618021}) is caused by mutation in the RSPO2 gene ({610575}) on chromosome 8q23." +273490,"Symmetric infantile thalamic degeneration with mineralization is an exceedingly rare condition ({3:Rosales and Riggs, 1962}; {2:Ambler and O'Neil, 1975}). The cause is unknown. It is associated with severe neurologic impairment and early death, and until the report of {1:Abuelo et al. (1981)} was considered to be a sporadic disorder with no appreciable risk of familial recurrence. {1:Abuelo et al. (1981)} described brother and sister, the products of nonconsanguineous parents and seemingly normal gestations, who had neurologic abnormalities starting within hours of birth and progressing to death at 3 weeks and 2 months of age, respectively. There were no dysmorphic external physical features. Both patients and those reported by {3:Rosales and Riggs (1962)} had spasticity, an unusual finding in the first weeks of life. Other clinical features were low Apgar scores, poor or absent suck reflex, and later development of apnea and seizures. The brother had lesions restricted to the thalamus, whereas the sister had thalamic lesions as well as a wider distribution of damage to cells. Both had cellular mineral deposits." +273600,"{1:Kremer and Fullerton (1961)} described brother and sister who developed neuropathy at the same time interval after starting thalidomide. Genetic differences in susceptibility to the teratogenic effects of thalidomide are suspected but unproved, and nothing is known of genetic differences in the metabolism of the drug." +273680,"In a complete ascertainment of cases of lethal neonatal chondrodysplasia in the West of Scotland, {1:Connor et al. (1985)} identified a seemingly 'new' form resembling thanatophoric dysplasia ({187600}) but with recessive inheritance. The parents were healthy and not related. The features were micromelia, curved femora and humeri, hypoplasia of the iliac, pubic, and ischial bones, and death in the neonatal period. Cataracts, anemia and hepatosplenomegaly may also be features. The histopathology of the growth plate was similar to that of thanatophoric dysplasia, i.e., it was generally disrupted with inadequate columns and fibrous bands. Two female sibs were affected; the second was recognized by prenatal x-rays.\n\nIt is likely that this family represented an example of parental germinal mosaicism for a mutation in the fibroblast growth factor receptor-3 (FGFR3; {134934}) gene, which was shown by {2:Tavormina et al. (1995)} to be the site of mutation in different types of thanatophoric dysplasia." +273730,"{1:Winter et al. (1987)} described 2 sibs of opposite sex, the offspring of consanguineous Pakistani parents, with an apparently 'new' syndrome. The main features were short ribs with a narrow chest and thoracic dysplasia, mild shortening of the limbs, communicating hydrocephalus, and developmental delay. The second sib was diagnosed prenatally by ultrasound at 18 weeks' gestation. The inheritance was presumably autosomal recessive. The first-born sib died at age 18 months from respiratory failure. The pregnancy was terminated in the case of the second sib." +273740,"{1:Rivera et al. (1988)} reported an apparently 'new' form of thoracomelic dysplasia in 2 children, a brother and sister of consanguineous parents. The salient features were bell-shaped thorax owing to short ribs, short-limbed dwarfism, pelvic hypoplasia, dislocatable radial heads, elongated distal fibulas, and improvement with age. Distinguishing the disorder from Jeune syndrome ({208500}) were the different thoracic configuration, lack of neonatal respiratory distress, and absence of acetabular spurs in infancy and of phalangeal cone-shaped epiphyses in childhood." +273750,"3M syndrome is an autosomal recessive disorder characterized by distinctive facial features, severe prenatal and postnatal growth retardation, and normal mental development. The main skeletal anomalies are long, slender tubular bones, reduced anteroposterior diameter of the vertebral bodies, and delayed bone age. Other skeletal manifestations include joint hypermobility, joint dislocation, winged scapulae, and pes planus (summary by {2:Badina et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of 3M Syndrome\n\nAlso see 3M syndrome-2 (3M2; {612921}), caused by mutation in the OBSL1 gene ({610991}) on chromosome 2q35, and 3M syndrome-3 (3M3; {614205}), caused by mutation in the CCDC8 gene ({614145}) on chromosome 19q13." +273770,"{1:Reddy (1977)} informed me of a case of threoninemia. The patient, an 8-month-old male offspring of a consanguineous marriage, had growth retardation and convulsions. The serum level of threonine was about 10 times normal and urinary excretion was increased. Oral loading with threonine increased the concentration in serum and urine. Threonine levels were normal in both parents ({2:Reddy, 1978})." +273800,"Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa (ITGB3; {173470}) platelet surface fibrinogen receptor complex resulting from mutations in the GPIIb gene ({50:Rosenberg et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Glanzmann Thrombasthenia\n\nSee Glanzmann thrombasthenia-2 (GT2; {619267}), caused by mutation the ITGB3 gene ({173470}) on chromosome 17q21.32.\n\nSee review by {6:Botero et al. (2020)}." +273900,"Thrombocytopenia-3 (THC3) is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by {3:Levin et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}." +274000,"The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by {2:Albers et al., 2012})." +274150,"Hereditary thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome (USS), is a rare autosomal recessive thrombotic microangiopathy (TMA). Clinically, acute phases of TTP are defined by microangiopathic mechanical hemolytic anemia, severe thrombocytopenia, and visceral ischemia. Hereditary TTP makes up 5% of TTP cases and is caused mostly by biallelic mutation in the ADAMTS13 gene, or in very rare cases, by monoallelic ADAMTS13 mutation associated with a cluster of single-nucleotide polymorphisms (SNPs); most cases of all TTP (95%) are acquired via an autoimmune mechanism (see {188030}). Hereditary TTP is more frequent among child-onset TTP compared with adult-onset TTP, and its clinical presentation is significantly different as a function of its age of onset. Child-onset TTP usually starts in the neonatal period with hematological features and severe jaundice. In contrast, almost all cases of adult-onset hereditary TTP are unmasked during the first pregnancy of a woman whose disease was silent during childhood (summary by {11:Joly et al., 2018})." +274190,"In Saskatchewan, {1:Shokeir (1978)} identified 3 sibships in 2 possibly related kindreds of German-Austrian extraction with a syndrome of absent thumbs, short stature with skeletal abnormalities such as unfused olecranon, and severe combined immunodeficiency. Severe chickenpox and chronic candidiasis were features. Congenital heart malformation (septal defect) also occurred in 1 kindred. Delayed puberty and anosmia were features in both males and females. Inheritance of this distinct syndrome is almost certainly autosomal recessive." +274200,"According to {1:Glass and Kistler (1953)}, 24.7% of whites and 35.6% of blacks showed the trait. Penetrance was calculated as 96.5%. Hyperextensible thumb was judged to be recessive, the responsible gene having a frequency of 0.496 in U.S. whites." +274205,"{1:Ward et al. (1992)} described a sister and brother with upper limb defects, developmental delay, central hearing loss, unilateral poorly developed antihelix, and bilateral choroid coloboma. Height and weight were below the third percentile. The girl had a hypoplastic right thumb, poorly developed antihelix of the right ear, and cataract in the right eye. The boy, in addition to hypoplastic left thumb and poorly developed antihelix of the left ear, had bilateral cryptorchidism. The parents were unrelated." +274210,"{1:Shepard et al. (1976)} observed 2 stillborn infants (1 female) with thymic agenesis. No parathyroid tissue was found, but an exhaustive search was not made. One had agenesis of the right ureter and kidney and hypoplasia of the lungs. The second had agenesis of the left lung and truncus arteriosus with single atrium and ventricle. The parents were unrelated and of Mexican descent." +274230,Thymomas are low-grade epithelial cancers of the thymus. Familial occurrence of thymoma is rare. +274240,"{1:Cutler et al. (1978)} described brother and sister with renal, neurologic, and thyroid disease. Both had thrombocytopenia. Mentality was normal. The girl presented at age 1 year with chronic renal disease. She died at age 10. The brother presented at age 3 with renal disease. At 13 years of age, he became increasingly atoxic. Simple colloid goiter was present in both." +274265,"{2:Rudd et al. (1990)} reported 3 sisters with a syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR). Two of the 3 infants had a unilobed lung and imperforate anus. Recurrence was detected prenatally by the presence of oligohydramnios and IUGR, a unilateral echogenic cystic mass in the renal fossa, and low amniotic fluid disaccharidases associated with imperforate anus. Autosomal recessive inheritance was suggested, but an unrecognized chromosome imbalance was also considered a possibility. Two of the sibs had been included in the series of cases of the Potter sequence reported by {1:Curry et al. (1984)}." +274270,"Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder ({18:Van Kuilenburg et al., 1999}).\n\nSince there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities ({18:Van Kuilenburg et al., 1999}; {7:Enns et al., 2004})." +274400,"Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes ({11:Vono-Toniolo et al., 2005}). Dyshormonogenesis can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH; see {188540}) stimulation.\n\n{7:Park and Chatterjee (2005)} reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder.\n\n<Subhead> Genetic Heterogeneity of Thyroid Dyshormonogenesis\n\nOther forms of thyroid hormone dysgenesis include TDH2A ({274500}), caused by mutation in the thyroid peroxidase gene (TPO; {606765}) on 2p25; Pendred syndrome, a form of thyroid hormone dysgenesis associated with deafness (TDH2B; {274600}) and caused by mutation in the SLC26A4 gene ({605646}) on 7q31; TDH3 ({274700}), caused by mutation in the thyroglobulin gene (TG; {188450}) on 8q24; TDH4 ({274800}), caused by mutation in the iodotyrosine deiodinase gene (IYD; {612025}) on 6q25; TDH5 ({274900}), caused by mutation in the DUOXA2 gene ({612772}) on 15q21; and TDH6 ({607200}), caused by mutation in the DUOX2 gene ({606759}) on 15q21." +274500,"Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes ({29:Vono-Toniolo et al., 2005}). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency ({22:Park and Chatterjee, 2005}). Defects in TPO cause a severe form of congenital hypothyroidism characterized by a complete and immediate release of accumulated radioiodide from the thyroid after sodium perchlorate administration ({4:Bakker et al., 2000}). This release of radioiodide represents total iodine organification defect (TIOD), a disruption of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide and bound to tyrosine residues in thyroglobulin (TG; {188450}) to form iodotyrosine." +274600,"Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter) ({12:Everett et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of thyroid dyshormonogenesis, see TDH1 ({274400})." +274700,"{10:Kanou et al. (2007)} reviewed characteristics of thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. This form of thyroid dyshormonogenesis has an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive manner, the disorder in the majority of patients causes large goiters of elastic and soft consistency. Although the degree of thyroid dysfunction varies considerably among patients with defective TG synthesis, patients usually have a relatively high serum free T3 concentration with disproportionately low free T4 level. The maintenance of relatively high FT3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases." +275000,Graves disease is an autoimmune disorder in which antibodies to the thyrotropin receptor (TSHR; {603372}) result in constitutive activation of the receptor and increased levels of thyroid hormone. {43:Wilkin (1990)} reviewed endocrine disorders of hormone excess and hormone deficiency resulting from receptor autoimmunity. +275190,"This is another defect in the degradation of isoleucine to propionic acid, 3 others being hyperleucine-isoleucinemia ({238340}), maple syrup urine disease ({248600}), and beta-keto-thiolase deficiency ({203750}). {1:Aleck and Hillman (1985)} studied a patient with a probable defect in conversion of tiglyl-CoA to alpha-methyl-beta-hydroxybutyryl-CoA, resulting in episodic abdominal pain and acidosis. The patient was a 5-year-old white male who was hospitalized 4 times for abdominal pain before it was discovered that his arterial blood pH was 7.25 with an anion gap and moderate serum ketones. HPLC showed large amounts of tiglic acid in the urine. With protein restriction, no further attacks occurred." +275200,"Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs ({16:Paschke and Ludgate, 1997}).\n\n<Subhead> Genetic Heterogeneity of Congenital Nongoitrous Hypothyroidism\n\nAlso see CHNG2 ({218700}), caused by mutation in the PAX8 gene ({167415}) on chromosome 2q14; CHNG3 ({609893}), mapped to chromosome 15q25.3; CHNG4 ({275100}), caused by mutation in the TSHB gene ({188540}) on chromosome 1p13; CHNG5 ({225250}), caused by mutation in the NKX2-5 gene ({600584}) on chromosome 5q35; CHNG6 ({614450}), caused by mutation in the THRA gene ({190120}) on chromosome 17q21; CHNG7 ({618573}), caused by mutation in the TRHR gene ({188545}) on chromosome 8q24; CHNG8 ({301033}), caused by mutation in the TBL1X gene ({300196}) on chromosome Xp22; and CHNG9 ({301035}), caused by mutation in the IRS4 gene ({300904}) on chromosome Xq22." +275210,"Restrictive dermopathy is a rare, lethal genodermatosis with characteristic manifestations that are easily recognizable at birth: thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs can include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life (summary by {26:Smigiel et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Restrictive Dermopathy\n\nSee also RSMD2 ({619793}), caused by mutation in the LMNA gene ({150330}) on chromosome 1q22." +275220,"Tibial hemimelia is a rare anomaly characterized by deficiency of the tibia with relatively intact fibula. {2:Jones et al. (1978)} classified the anomaly into 4 types according to radiologic criteria. It may present as an isolated anomaly or be associated with a variety of skeletal and extraskeletal malformations. Tibial hemimelia may also constitute a part of a more complicated malformation complex or syndrome, such as the Gollop-Wolfgang complex ({228250}) and triphalangeal thumb-polysyndactyly syndrome (see {174500} and {188740}) ({3:Matsuyama et al., 2003}).\n\n{4:McKay et al. (1984)} reviewed syndromes of congenital defects in which tibial hemimelia is a feature." +275230,{1:Carraro (1931)} described this combination in 4 of 6 sibs. This is the type of situation that may indicate linkage of 2 rare recessives rather than pleiotropy. +275240,"Tinea imbricata (TI) produces a superficial skin infection with unmistakable clinical appearance. It is a chronic disorder common in parts of Papua New Guinea and Oceania. It has also been reported in Mexico and South America. A familial pattern suggested to {2:Serjeantson and Lawrence (1977)} autosomal recessive inheritance of susceptibility. In married couples, no concordance beyond that expected by chance was observed and segregation in different types of matings was compatible with recessive inheritance. {1:Ravine et al. (1980)} analyzed 228 pedigrees from a Papua New Guinea population and concluded that autosomal recessive inheritance is likely. The frequency of the susceptibility gene was estimated to be 0.49. The possibility of autosomal dominant inheritance with reduced penetrance could not be excluded. The causative fungus is Trichophyton concentricum. The significance of inherited susceptibility is indicated by the fact that although the disease is found extensively throughout the tropics, it is absent from Africa and northern Australia. Workers have observed a much higher prevalence in some races than in others living in the same country under closely related environmental circumstances." +275250,"Blacks in particular may show spotted pigmentation of the tip of the tongue. The melanin is located on the summit of the fungiform papillae. {1:Davis (1968)} commented on the occurrence of pigmented spots and patches of the tongue, a possibly different phenotype. {4:Rao (1970)} collected data on 132 families from West Bengal and concluded that the trait segregates, the 'normal' allele being dominant over the 'pigmented' allele, i.e., pigment spots (or patches) being a recessive trait. {7:Rao and Bose (1970)} showed that tongue pigmentation is rare in the newborn. {8:Rao and Gorai (1970)} estimated that penetrance in adults is nearly 89%." +275300,"Tracheobronchiomegaly is characterized by striking dilatation of the intrathoracic trachea and of the major bronchi (summary by {2:Johnston and Green, 1965})." +275350,"Transcobalamin II deficiency is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities (summary by {9:Haberle et al., 2009}).\n\n{11:Hall (1981)} gave a clinically oriented review of congenital defects of vitamin B12 transport, and {8:Frater-Schroder (1983)} gave a genetically oriented review." +275370,"{1:Blass et al. (1972)} studied cultured skin fibroblasts from the daughter of a couple related as second cousins once removed. An older sister had died in early childhood. The proband, aged 3 years, had severe generalized neurologic disease and persistent lactic acidosis. Radioactive citrate, palmitate, and pyruvate were oxidized at a rate less than one-third of normal. Deficiency was identified in the activity of the pyruvate dehydrogenase complex although not in the thiamine-dependent first enzyme of that complex. The patient was thought to have a partial genetic defect affecting the tricarboxylic acid cycle. For discussion of the enzyme complex involved, see {2:Reed and Cox (1970)}." +275400,"Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH; {139250}), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by {4:Hufnagel et al., 2015}).\n\nLaurence-Moon syndrome ({245800}) is an allelic disorder with overlapping features." +275595,"{1:Teebi (1991)} described brother and sister, offspring of healthy first-cousin Palestinian Arab parents, who had trigonocephaly, brachycephaly, bulbous nose which was slightly bifid at the tip, micrognathia, and relatively broad metatarsals and phalanges. Both showed severe psychomotor retardation. The metopic sutures were prominent and the forehead narrow." +276100,"{1:Tada et al. (1963)} described a 9-year-old girl with dwarfism, mental defect, cutaneous photosensitivity, and gait disturbance resembling cerebellar ataxia. The clinical features resembled Hartnup disease ({234500}) but the chemical findings were different. Tryptophane was excreted in the urine in excess without increase in indican or indole acetic acid excretion. With tryptophane loading, the plasma level of tryptophane increased markedly and remained higher longer than in normals and tryptophanuria was increased with relatively little increase in kynurenine excretion. The defect was thought to concern the conversion of tryptophane to kynurenine. The disorder was thought to have occurred in 3 children (2 males and the female proband) in 3 sibships. All 6 parents were traced to a common ancestral couple. The proband showed conjunctival telangiectasia which together with ataxia creates similarities to ataxia-telangiectasia ({208900})." +276200,"Some of the children in whom unusual, as yet unidentified, T-substance has been found in the urine by paper chromatography had severe mental and-or physical retardation ({2:Coles et al., 1960}; {1:Coles, 1961}). {3:Dent (1972)} viewed 'T-substance anomaly' as bogus and seems to have been confirmed in this by {4:Sidle (1972)}, who found the substance in normal urine." +276300,"Mismatch repair cancer syndrome (MMRCS) is a rare autosomal recessive childhood cancer predisposition syndrome with 4 main tumor types: hematologic malignancies, brain/central nervous system tumors, colorectal tumors and multiple intestinal polyps, and other malignancies including embryonic tumors and rhabdomyosarcoma. Many patients show signs reminiscent of neurofibromatosis type I (NF1; {162200}), particularly multiple cafe-au-lait macules (summary by {1:Baas et al., 2013}).\n\n{31:Wimmer and Etzler (2008)} provided a review of the mismatch cancer repair syndrome and suggested that the prevalence may be underestimated.\n\n<Subhead> Genetic Heterogeneity of Mismatch Repair Cancer Syndrome\n\nMMRCS2 ({619096}) is caused by mutation in the MSH2 gene ({609309}) on chromosome 2p21-p16. MMRCS3 ({619097}) is caused by mutation in the MSH6 gene ({600678}) on chromosome 2p16. MMRCS4 ({619101}) is caused by mutation in the PMS2 gene ({600259}) on chromosome 7p22.\n\nPatients with familial adenomatous polyposis (FAP; {175100}), an autosomal dominant disorder that results from heterozygous mutations in the APC gene, may also develop brain tumors or extracolonic malignancies, resulting in a similar clinical phenotype.\n\nHeterozygous mutations in the MMR genes result in hereditary nonpolyposis colorectal cancer (see, e.g., HNPCC1, {120435})." +276600,"Tyrosinemia type II (TYRSN2) is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase ({14:Natt et al., 1992})." +276700,"Hereditary tyrosinemia type I is an autosomal recessive disorder caused by deficiency of fumarylacetoacetase (FAH), the last enzyme of tyrosine degradation. The disorder is characterized by progressive liver disease and a secondary renal tubular dysfunction leading to hypophosphatemic rickets. Onset varies from infancy to adolescence. In the most acute form patients present with severe liver failure within weeks after birth, whereas rickets may be the major symptom in chronic tyrosinemia. Untreated, patients die from cirrhosis or hepatocellular carcinoma at a young age (summary by {4:Bliksrud et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Tyrosinemia\n\nTyrosinemia type II (TYRSN2; {276600}), also known as Richner-Hanhart syndrome, is caused by mutation in the TAT gene ({613018}) on chromosome 16q22. Tyrosinemia type III (TYRNS3; {276710}) is caused by mutation in the HPD gene ({609695}) on chromosome 12q24." +276710,"Tyrosinemia type III (TYRSN3) is an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) and is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage (summary by {10:Tomoeda et al., 2000})." +276800,"Confusion exists between the terms 'tyrosinemia' and 'tyrosinosis.' {1:La Du (1966)} suggested that the problem was best solved by reserving the term 'tyrosinosis' for the apparently unique condition reported by {3:Medes (1932)}. The defect in Medes' patient may have involved liver tyrosine transaminase (see {613018}), not P-hydroxyphenylpyruvic acid oxidase as she postulated. The patient was a 49-year-old male Russian Jew, diagnosed as having myasthenia gravis. {2:La Du and Gjessing (1972)} have discussed the evidence supporting the localization of this defect in various steps of tyrosine metabolism. Until other patients with this disease are discovered, no definite conclusion can be reached." +276820,"The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by {7:Kantaputra et al., 2010})." +276821,"The association of mesomelic shortness of the upper limbs (mainly due to hypoplastic ulna), clubfeet, and anonychia congenita was described by {1,2:Kohn et al. (1989, 1995)} in 2 males born of an inbred Arab couple. Lower limbs showed limitation of movement at the knees, severe varus deformity, and absence of all toenails. The arms showed limitation of movement at the elbows and absence of all fingernails. One child, who was severely mentally retarded, died at the age of 3 years; the other child died at age 6 months. Ultrasound examination during the next pregnancy revealed a fetus with bilaterally short forearms. The pregnancy was terminated, and a female fetus with similar malformations was delivered. Autopsy showed no internal anomalies. {2:Kohn et al. (1995)} suggested that this association is a 'new' syndrome with autosomal recessive inheritance." +276822,"In the son of healthy, consanguineous Filipino parents, {1:Marles and Chudley (1990)} described congenital absence of the ulnars with oligodactyly and endocardial fibroelastosis. The baby showed hydrops fetalis and died soon after birth. Because of the presence of 2 major malformations and the parental consanguinity, {1:Marles and Chudley (1990)} suggested that this may represent a 'new' autosomal recessive malformation syndrome." +276900,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({42:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss. Patients with type IV (USH4; {618144}) have late onset of both retinitis pigmentosa and progressive, moderate to severe sensorineural hearing loss without vestibular involvement ({32:Khateb et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Usher Syndrome Type I\n\nUSH type I is genetically heterogeneous. USH1C ({276904}), the 'Acadian variety,' is caused by mutation in harmonin ({605242}), on 11p15. USH1D ({601067}) is caused by mutation in the cadherin-23 (CDH23; {605516}) on 10q21. USH1F ({602083}) is caused by mutation in the protocadherin-15 (PCDH15; {605514}) on 10q22. USH1G ({606943}) is caused by mutation in the SANS gene ({607696}), on 17q25. USH1E ({602097}) maps to 21q21, and USH1H ({612632}) maps to 15q22-q23. USH1J ({614869}) is caused by mutation in the CIB2 gene ({605564}) on 15q24. USH1K ({614990}) maps to chromosome 10p11.21-q21.1.\n\nA form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.\n\n{17:Gerber et al. (2006)} presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.\n\n{4:Ahmed et al. (2003)} reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes." +276901,"Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes ({14:Eudy et al., 1998}). See {276900} for clinical characterization of Usher syndrome types I, II, and III.\n\n<Subhead> Genetic Heterogeneity of Usher Syndrome Type II\n\nUsher syndrome type II is genetically heterogeneous. USH2C ({605472}) is caused by mutation in the ADGRV1 gene ({602851}) or by biallelic digenic mutation in the ADGRV1 and PDZD7 ({612971}) genes. USH2D ({611383}) is caused by mutation in the WHRN gene ({607928}).\n\nThe locus designation USH2B has been withdrawn; see HISTORY." +276902,"Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life ({10:Karjalainen et al., 1985}; {13:Pakarinen et al., 1995}).\n\nFor a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 ({276900}).\n\n<Subhead> Genetic Heterogeneity of Usher syndrome Type III\n\nUsher syndrome type IIIB ({614504}) is caused by mutation in the HARS gene ({142810}) on chromosome 5q31.3." +276904,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({9:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900})." +276950,"VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects; see {192350}. Cases of familial VACTERL with hydrocephalus (H) have been reported with suggestion of autosomal recessive or X-linked inheritance (see {314390}).\n\nOther patients thought to have VACTERL-H, including 2 unrelated infants reported by {6:Porteous et al. (1992)}, had been found to have Fanconi anemia (see {227650}). {6:Porteous et al. (1992)} suggested that chromosomal breakage studies should be performed in all cases of VACTERL/VACTERL-H to rule out Fanconi anemia. {1:Alter et al. (2007)} noted that a VATER phenotype had been reported in Fanconi anemia of complementation groups A ({227650}), C ({227645}), D1 ({605724}), E ({600901}), F ({603467}), and G ({614082}). X-linked VACTERL-H is also associated with mutations in the FANCB gene ({300515})." +277000,"Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by uterovaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls ({9:Cheroki et al., 2006}).\n\nThe abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association ({601076}), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism ({158330}) is caused by mutation in the WNT4 gene ({603490}). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, {191830})." +277100,"Valinemia is an inborn error of metabolism characterized clinically by vomiting, feeding difficulties, hypotonia, and developmental delay, and biochemically by high concentrations of valine in serum and urine ({5:Wada, 1965})." +277170,"Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by {3:Doss et al., 1998} and {10:Lopez et al., 2014})." +277175,"{1:Rambaud et al. (1986)} described a family in which 3 of 7 sibs had marked and progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and calcified areas of the brain. By electron microscopy, they found that the hyaline substance in the intestinal capillaries consisted of concentric layers of basement membrane-like deposits. Extensive deposits of this material were present in the subepithelial and mesangial spaces of the kidneys. The patients had a peculiar phenotype with poikiloderma and graying of the hair in the twenties. Diarrhea, rectal bleeding, malabsorption, and protein-losing enteropathy were the main and lethal clinical problems. Peripheral retinal ischemic changes and chorioretinal scars were found in the ocular fundi of both affected sisters. A subarachnoid hemorrhage due to a right sylvian aneurysm occurred in both sisters. The parents were not consanguineous." +277180,"Congenital bilateral absence of the vas deferens is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD, mutations are identified in the CFTR gene (summary by {16:Patat et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Congenital Bilateral Aplasia of Vas Deferens\n\nAlso see CBAVDX ({300985}), caused by mutation in the ADGRG2 gene ({300572})." +277200,"Hypoplasia of the right ventricle and tricuspid valve was observed in brother and sister by {3:Davachi et al. (1967)}, who pointed out that at least 2 families with multiple affected sibs had been reported ({4:Medd et al., 1961}; {5:Sackner et al., 1961}).\n\n{2:Chessa et al. (2000)} described a 1-day-old male child and his 34-year-old father who were found to have isolated right ventricular hypoplasia (IRVH) with atrial septal defect. Isolated right ventricular hypoplasia is usually associated with a communication between the atria in the form of a patent foramen ovale or secondum atrial septal defect; the right ventricular outflow tract is normal. Although affected sibs had been reported by {4:Medd et al. (1961)} and by {1:Becker et al. (1971)}, this appeared to be the first report of familial IRVH in successive generations." +277300,"The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. The term 'spondylocostal dysostosis' is best applied to those phenotypes with generalized SDV and a broadly symmetric thoracic cage (summary by {18:Gucev et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Spondylocostal Dysostosis\n\nOther forms of SCDO include SCDO2 ({608681}), caused by mutation in the MESP2 gene ({605195}) on chromosome 15q26; SCDO3 ({609813}), caused by mutation in the LFNG gene ({602576}) on chromosome 7p22; SCDO4 ({613686}), caused by mutation in the HES7 gene ({608059}) on chromosome 17p13; SCDO5 ({122600}), caused by mutation in the TBX6 gene ({602427}) on chromosome 16p11; and SCDO6 ({616566}), caused by mutation in the RIPPLY2 gene ({609891}) on chromosome 6q14." +277380,"Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; {609058}) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; {156570}). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC; {277400}), cblD (MAHCD; {277410}), cblF, and cblJ (MAHCJ; {614857})." +277400,"Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; {609058}) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; {156570}). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD ({277410}), cblF ({277380}), and cblJ ({614857}).\n\nIsolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' ({251000}) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA ({251100}) is caused by mutation in the MMAA gene ({607481}) on 4q31; and MMA cblB ({251110}) is caused by mutation in the MMAB gene ({607568}) on 12q24.\n\nMethylmalonic aciduria and homocystinuria of cblC type is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases ({21:Lerner-Ellis et al., 2006}). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood ({31:Rosenblatt et al., 1997})." +277410,"Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; {609058}) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; {156570}). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC; {277400}), cblD, cblF (MAHCF; {277380}), and cblJ (MAHCJ; {614857}).\n\nIsolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' ({251000}), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA ({251100}), caused by mutation in the MMAA gene ({607481}) on 4q31; and MMA cblB ({251110}), caused by mutation in the MMAB gene ({607568}) on 12q24. Another form of isolated MMA ({613646}) can be caused by defect in the transcobalamin receptor (CD320; {606475})." +277440,"Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.\n\nVDDR2B ({600785}) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; {264700})." +277450,"Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome. The pathomechanism is based on a reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors, as well as the anticoagulant factors protein C ({612283}) and protein S ({176880}). Posttranslational gamma-carboxylation of proteins enables the calcium-dependent attachment of the proteins to the phospholipid bilayer of membranes, an essential prerequisite for blood coagulation. Vitamin K1 acts as a cofactor for the vitamin K-dependent carboxylase in liver microsomes, GGCX.\n\n<Subhead> Genetic Heterogeneity of Combined Deficiency of Vitamin K-Dependent Clotting Factors\n\nCombined deficiency of vitamin K-dependent clotting factors-2 (VKFCD2; {607473}) is caused by mutation in the gene encoding vitamin K epoxide reductase (VKORC1; {608547}) on chromosome 16p11." +277465,"{1:Labrune et al. (1992)} reported the case of a boy, born of first-cousin Algerian parents, who had progressive vitiligo from the age of 12 years and retarded psychomotor development. A beaked nose and high, narrow palate were noted as well as distal duplication of the urethra. Growth was retarded. No chromosomal or immunologic defects were detected, thus excluding Fanconi anemia, Bloom syndrome, xeroderma pigmentosum, and ataxia telangiectasia, as well as Nijmegen breakage syndrome." +277470,"Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}).\n\n<Subhead> Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2\n\nPCH2B ({612389}) is caused by mutation in the TSEN2 gene ({608753}) on chromosome 3p25, and PCH2C ({612390}) is caused by mutation in the TSEN34 gene ({608754}) on chromosome 19q13. PCH2D ({613811}) is caused by mutation in the SEPSECS gene ({613009}) on chromosome 4p15. PCH2E ({615851}) is caused by mutation in the VPS53 gene ({615850}) on chromosome 17p13. PCH2F ({617026}) is caused by mutation in the TSEN15 gene ({608756}) on chromosome 1q25. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing." +277480,"Von Willebrand disease is a bleeding disorder resulting from a defect in platelet aggregation due to defects in the von Willebrand factor protein. Type 3 von Willebrand disease, which is inherited as an autosomal recessive disorder, is associated with a severe quantitative defect or virtual absence of VWF in plasma, a prolonged bleeding time, and more severe bleeding tendencies compared to the other types of VWD. Type 3 accounts for about 1% of patients with VWD. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, bleeding after surgery, and hemarthroses. Since VWF also serves as a carrier protein for coagulation factor VIII (F8; {300841}), affected individuals also have very low levels of plasma F8, resembling hemophilia A ({306700}) (summary by {24,21:Zhang et al., 1992, 1993}; reviews by {11:Sadler et al., 2006} and {6:Lillicrap, 2009}).\n\nFor a general description and a classification of the types of von Willebrand disease, see VWD type 1 ({193400})." +277580,"Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by {23:Read and Newton, 1997} and {21:Pingault et al., 2010}). WS type 4A is caused by mutation in the EDNRB gene ({131244}).\n\n<Subhead> Clinical Variability of Waardenburg Syndrome Types 1-4\n\nWaardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; {193500}) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3; {148820}) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by {23:Read and Newton, 1997} and {21:Pingault et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Waardenburg Syndrome Type 4\n\nWaardenburg syndrome type 4 is genetically heterogeneous. WS4B ({613265}) is caused by mutation in the EDN3 gene ({131242}) on chromosome 20q13, and WS4C ({613266}) is caused by mutation in the SOX10 gene ({602229}) on chromosome 22q13." +277590,"Weaver syndrome (WVS) comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome ({117550}), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by {2:Basel-Vanagaite, 2010}).\n\nSotos syndrome ({117550}), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene ({601573}) on chromosome 5q35. Other 'Weaver-like' syndromes include Cohen-Gibson syndrome (COGIS; {617561}), caused by heterozygous mutation in the EED gene ({605984}) on chromosome 11q14; and Imagawa-Matsumoto syndrome (IMMAS; {618786}), caused by heterozygous mutation in the SUZ12 gene ({606245}) on chromosome 17q11.\n\nThe 'Weaver-like' syndrome reported by {22:Stoll et al. (1985)} in a mother and son may be a separate entity." +277600,"Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by {1:Dagoneau et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Weill-Marchesani Syndrome\n\nA phenotypically similar, autosomal dominant form of WMS (WMS2; {608328}) is caused by mutation in the FBN1 gene ({134797}) on chromosome 15q21. Autosomal recessive WMS3 ({614819}) is caused by mutation in the LTBP2 gene ({602091}) on chromosome 14q24. Autosomal recessive WMS4 ({613195}) is caused by mutation in the ADAMTS17 gene ({607511}) on chromosome 15q24." +277700,"Werner syndrome (WRN) is a rare autosomal recessive segmental progeroid syndrome. Patients exhibit not only an appearance of accelerated aging (premature graying, thinning of hair, skin atrophy and atrophy of subcutaneous fat), but also several disorders commonly associated with aging, including bilateral cataracts, diabetes mellitus, osteoporosis, premature arteriosclerosis, and a variety of benign and malignant neoplasms (summary by {43:Oshima et al., 1996})." +277720,"Whistling face syndrome is characterized by an atypical facial appearance with anomalies of the hands and feet. Most cases show autosomal dominant inheritance: see distal arthrogryposis 2A (DA2A; {193700}). There are rare reports of presumably autosomal recessive inheritance (summary by {1:Altunhan et al., 2010})." +277740,"{1:Goodman et al. (1980)} reported the cases of 2 Ashkenazi Jewish brothers with a 'new' syndrome of white forelock (poliosis), distinctive facial features and congenital malformations of the ocular, cardiopulmonary and skeletal systems. Ocular hypertelorism, atrial septal defect, prominent thoracic and abdominal veins, hypoplastic or absent terminal phalanges of toes, and segmental bronchomalacia with atelectasis were features." +277900,Wilson disease is an autosomal recessive disorder characterized by dramatic build-up of intracellular hepatic copper with subsequent hepatic and neurologic abnormalities.\n\n{28:De Bie et al. (2007)} provided a detailed review of the molecular pathogenesis of Wilson disease. +277950,"Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; {259600}), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by {12:Zankl et al., 2007})." +277990,"{1:Wolff et al. (1994)} described 2 severely retarded brothers, the only children of consanguineous Italian parents, with severe mental retardation, striking and very similar facial features, and other anomalies. The faces were characterized by a broad nasal bridge, bulbous nose, upward slanting palpebral fissures, microretrognathia, low anterior hairline, and large ears with an incompletely developed upper helix. In addition, both brothers had type II hypospadias, limb contractures, and delayed bone age. Pictures of the patients as infants and as young adults were presented. One brother had a bilateral cleft lip with cleft palate and cryptorchidism, and developed scoliosis during adolescence. The other had bilateral inguinal hernias and strabismus." +278000,"Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by {19:Du et al., 2001})." +278150,"Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood ({7:Pasternack et al., 2008}). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by {9:Schaffer et al., 2006}).\n\nWoolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by {8:Petukhova et al., 2009}). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair ({5:Khan et al., 2011}).\n\nWoolly hair is also a feature of several syndromes, such as Naxos disease ({601214}) and cardiofaciocutaneous syndrome ({115150}) ({8:Petukhova et al., 2009}), or the palmoplantar keratoderma and cardiomyopathy syndrome ({601214}) ({3:Carvajal-Huerta, 1998}).\n\n<Subhead> Genetic Heterogeneity of Hypotrichosis and Woolly Hair\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 ({605389}).\n\nFor a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6; {607903}).\n\nAnother form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2; {604379}) is caused by mutation in the LIPH gene ({607365}) and is allelic to autosomal recessive localized hypotrichosis (LAH2). ARWH3 ({616760}) is caused by mutation in the KRT25 gene ({616646}) on chromosome 17q21.\n\nAn autosomal dominant form of woolly hair with hypotrichosis (HYPT13; {615896}) is caused by mutation in the KRT71 gene ({608245}) on chromosome 12q13. Another autosomal dominant form of woolly hair (ADWH; {194300}) with normal hair density is caused by mutation in the KRT74 gene ({608248}) on chromosome 12q13, and is allelic to an autosomal dominant form of hypotrichosis simplex of the scalp (HYPT3; {613981}) as well as an ectodermal dysplasia of the hair/nail type (ECTD7; {614929})." +278200,"{1:Salamon (1963)} described this syndrome as a recessive. The parents were consanguineous. As an isolated trait, woolly hair is a dominant ({194300}). Also see {278150}." +278300,"Xanthinuria, which was first described by {5:Dent and Philpot (1954)}, is characterized by excretion of large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. Two clinically similar but distinct forms of xanthinuria are recognized. In type I there is an isolated deficiency of xanthine dehydrogenase, and in type II (XAN2; {603592}) there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase ({603592}). Type I patients can metabolize allopurinol, whereas type II patients cannot ({15:Simmonds et al., 1995}). Xanthinuria also occurs in molybdenum cofactor deficiency ({252150}).\n\nType II xanthinuria is caused by mutation in the MOCOS gene ({613274}), which encodes the enzyme that sulfurates the molybdenum cofactor for XDH and AOX1 ({602841})." +278700,"Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome ({278800}) ({41:Satokata et al., 1992}).\n\nSee also XPB ({610651}), XPC ({278720}), XPD ({278730}), XPE ({278740}), XPF ({278760}), XPG ({278780}), and variant XP (XPV; {278750})." +278720,"Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by {12:Li et al., 1993}).\n\nFor a general discussion of xeroderma pigmentosum, see XPA ({278700})." +278730,"Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by {3:Flejter et al., 1992})." +278750,"Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects in DNA repair. For a general overview of the disorder, see XPA ({278700}).\n\nSome patients with xeroderma pigmentosum have been found to have normal DNA excision repair, but defective postreplication repair ({8:Lehman et al., 1975}). This XP 'variant' class is characterized by a defect in conversion of newly synthesized DNA from low to high molecular weight after UV irradiation ({9:Masutani et al., 1999}).\n\nSo-called 'pigmentary xerodermoid' is apparently identical to the XP variant, which is characterized by loss of a gene product that permits normal cells to replicate DNA without interruption at UV-damaged sites ({2:Cleaver et al., 1980})." +278760,"Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by {4:Kashiyama et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA ({278700}), and of Cockayne syndrome, see CSA ({216400})." +278780,"For a general description of xeroderma pigmentosum, see XPA ({278700}), and of Cockayne syndrome, see CSA ({216400}). Complementation group G has one of the smallest series of cases ({1:Arlett et al., 1980})." +278900,"{2:Payling-Wright and Evans (1970)} described a girl who had been normal until age 3 months when there was onset of seizures. At the age of 9 months, she was floppy; also, she made choreoathetotic movements and appeared to lack sight or hearing. Investigations showed small head, hypsarrhythmia by EEG, and dilated ventricles by air encephalography. Lymphocytes grown in short-term culture showed very low beta-xylosidase. Thus, this appears to be a lysosomal disorder. No further information is available ({1:Evans, 1974})." +279000,"Young syndrome is characterized by chronic sinopulmonary infections, persistent azoospermia, and normal spermatogenesis ({2:Handelsman et al., 1984})." +280000,"Zunich neuroectodermal syndrome is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by {1:Ng et al., 2012}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +300000,"Opitz GBBB syndrome (GBBB) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects ({21:So et al., 2005})." +300004,"Proud syndrome is an X-linked developmental disorder characterized by agenesis of the corpus callosum, severe mental retardation, seizures, and spasticity. Males are severely affected, whereas females may be unaffected or have a milder phenotype ({4:Proud et al., 1992}). Proud syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; {300215}) to Proud syndrome to infantile spasms without brain malformations (DEE1; {308350}) to syndromic ({309510}) and nonsyndromic ({300419}) mental retardation ({2:Kato et al., 2004}; {5:Wallerstein et al., 2008})." +300009,"The term 'X-linked hypercalciuric nephrolithiasis' comprises several related forms of hereditary renal tubular disorders caused by mutations in the CLCN5 gene, including Dent disease, X-linked recessive nephrolithiasis ({310468}), X-linked recessive hypophosphatemic rickets ({300554}), and low molecular weight proteinuria ({308990}). Although these disorders are allelic and are all characterized by progressive proximal renal tubulopathy with hypercalciuria, low molecular weight proteinuria, and nephrocalcinosis, they vary in degree of severity and were originally reported as separate disorders. Some have considered these disorders as phenotypic variants of a single disease, referred to as the 'Dent disease complex' ({13:Scheinman, 1998}; {6:Gambaro et al., 2004}).\n\n{12:Scheinman et al. (1999)} provided a comprehensive review of genetic disorders of renal electrolyte transport.\n\n<Subhead> Genetic Heterogeneity of Dent Disease\n\nSee also Dent disease-2 (DENT2; {300555}), caused by mutation in the OCRL gene ({300535}) on chromosome Xq26." +300029,"X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors ({15:Demirci et al., 2002}). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to become legally blind by the age of 30 to 40 years. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe RP ({22:Jin et al., 2007}). Mutation in the RPGR gene is believed to account for approximately 70% of XLRP ({38:Vervoort et al., 2000}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +300047,"Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Impaired intellectual development that is not associated with other distinguishing features is referred to as 'nonspecific.'\n\nThe Human Gene Mapping Nomenclature Committee ({2:Mulley et al., 1992}) proposed to designate each newly reported apparently unique X-linked mental retardation (MRX) family with gene symbols (e.g., MRX1, MRX2) if a minimal lod score of 2.0 was demonstrated between the MR locus and one or more X chromosome markers." +300048,"Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion ({1:Auricchio et al., 1996}).\n\nSome primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy ({243180}) ({11:Tanner et al., 1976})." +300049,"Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles. Most affected individuals with the X-linked form are female, while hemizygous males tend to die in utero. Affected females usually present with epilepsy, but have normal intelligence. Additional features include defects of the cardiovascular system, such as patent ductus arteriosus, bicuspid aortic valve, and dilation of the sinuses of Valsalva or the thoracic aorta (summary by {5:Fox et al., 1998}). Several patients with PVNH and mutations in the FLNA gene have been reported with a spectrum of connective tissue abnormalities characterized by combinations of vascular, cardiac, cutaneous, and joint-related symptoms (summary by {22:Reinstein et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Periventricular Nodular Heterotopia\n\nPeriventricular nodular heterotopia is a genetically heterogeneous condition: see also PVNH2 ({608097}), caused by mutation in the ARFGEF2 gene ({605371}) on chromosome 20q13; PVNH3 ({608098}), associated with anomalies of 5p; PVNH5 ({612881}), associated with deletions of chromosome 5q; PVNH6 ({615544}), caused by mutation in the ERMARD gene ({615532}) on chromosome 6q27; PVNH7 ({617201}), caused by mutation in the NEDD4L gene ({606384}) on chromosome 18q21; PVNH8 ({618185}), caused by mutation in the ARF1 gene ({103180}) on chromosome 1q42; and PVNH9 ({618918}), caused by mutation in the MAP1B gene ({157129}) on chromosome 5q13.\n\nThe form of PVNH that was previously designated the Ehlers-Danlos variant (PVNH4) is now considered to be the same as X-linked PVNH1." +300054,"In describing a locus on the X chromosome linked to body length in mice, {1:Lembertas et al. (1996)} suggested that a gene influencing human body length may be found in a homologous region of the human X chromosome. In an interspecific backcross, they found that body length in the mouse, measured from anus to nose and designated AN length, showed highly significant linkage (lod score 5.5) with markers in the midportion of the X chromosome including DXMit73 and Fpsl9. {1:Lembertas et al. (1996)} stated that the locus explained 10% of the variance in AN length and affected both males and females to about the same extent. Many nonoverlapping X chromosome deletions had been associated with short stature in humans ({2:Ogata and Matsuo, 1993}); however, several mechanisms, including X-specific growth genes, euchromatic or heterochromatic quantity, nonrandom X inactivation, and impaired endocrine status, may be responsible for the growth effects of X chromosome deletions in humans. Nonetheless, the observations in mice suggest a specific locus for stature. {1:Lembertas et al. (1996)} suggested Xq24-q28 as the most likely region of a homologous locus in the human." +300055,"The MECP2 gene is mutated in Rett syndrome (RTT; {312750}), a severe neurodevelopmental disorder that almost always occurs in females. Males with non-RTT mutations in the MECP2 gene can demonstrate a wide variety of phenotypes, including X-linked syndromic intellectual developmental disorder-13, described here, and Lubs-type X-linked syndromic intellectual developmental disorder (MRXSL; {300260}). Males with RTT-associated MECP2 mutations have neonatal severe encephalopathy that is usually lethal ({300673}) ({9:Moog et al., 2003}; {11:Villard, 2007})." +300064,"{1:Hyde-Forster et al. (1992)} described 2 maternal half brothers with moderate mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features. Two sisters of the proband's mother were mentally retarded, but did not have any dysmorphic features. {1:Hyde-Forster et al. (1992)} proposed that this complex was a 'new' X-linked mental retardation syndrome." +300066,"X-linked deafness-4 is a nonsyndromic form of progressive hearing loss with postlingual onset. Affected males show earlier onset of hearing loss than affected females (summary by {2:del Castillo et al., 1996})." +300067,"Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome ({6:des Portes et al., 1997}).\n\nThere are several X-linked loci that affect neuronal migration, including the Aicardi locus ({304050})." +300068,"The androgen insensitivity syndrome is an X-linked recessive disorder in which affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal male 46,XY karyotype. Partial androgen insensitivity (PAIS; {312300}), also called Reifenstein syndrome, results in hypospadias and micropenis with gynecomastia." +300073,"{2:Holmes et al. (1997)} reported male sibs with a possibly X-linked form of fetal akinesia syndrome. One sib died at 11 weeks of age and other sib was stillborn. In both, the pregnancies were characterized by polyhydramnios and hypokinesia. Both had brain malformations (absence of corpus callosum in one; arhinencephaly in the other), telecanthus, and narrow palpebral fissures. (See holoprosencephaly with fetal akinesia/hypokinesia sequence ({306990}).) Only affected male sibs were described in several reports: {5:Mease et al. (1976)}, {4:MacMillan et al. (1985)}, {3:Lammer et al. (1989)}, {1:Gyr et al. (1992)}. This led {2:Holmes et al. (1997)} to suggest that there is an X-linked form of fetal akinesia syndrome(s). Also see fetal akinesia deformation sequence ({208150})." +300085,"For a phenotypic description and a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see {304020}." +300087,"In mammals, the potential imbalance of gene expression for the two X chromosomes in females is resolved by inactivating one X in all somatic tissues. In the embryo proper, the process of X inactivation is considered to be random between the maternal and paternal chromosomes. Thus, most females have mosaic expression of maternal and paternal alleles of X chromosome loci, with a contribution of about 50% from each chromosome. However, some females show a skewed ratio of X inactivation, which can be due to negative or positive selection, or to an underlying primary genetic process. {2:Belmont (1996)} observed familial clustering of females with highly skewed patterns of X inactivation and reviewed the genetic control of X inactivation.\n\n<Subhead> Genetic Heterogeneity of Skewed X Inactivation\n\nSee also SXI2 ({300179}) for a locus that maps to chromosome Xq25-q26." +300088,"Developmental and epileptic encephalopathy-9 (DEE9) is an X-linked disorder characterized by seizure onset in infancy and mild to severe intellectual impairment. Autistic and psychiatric features have been reported in some individuals. The disorder affects heterozygous females only; transmitting males are unaffected (summary by {6:Jamal et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}." +300100,"Adrenoleukodystrophy is an X-linked disorder which is secondary to a mutation in the ABCD1 gene and results in the apparent defect in peroxisomal beta oxidation and the accumulation of the saturated very long chain fatty acids (VLCFA) in all tissues of the body. The manifestations of the disorder occur primarily in the adrenal cortex, the myelin of the central nervous system, and the Leydig cells of the testes.\n\nABCD1 is an ATPase binding cassette protein in the same category of transporter proteins such as the CFTR and MDR proteins.\n\nIdentification of X-ALD as a lipid-storage disease, as a defect in the capacity to degrade VLCFAs, and its characterization as a peroxisomal disorder was reviewed by {98:Moser (1997)}.\n\n{90:Moser et al. (2005)} provided a clinical review of ALD." +300113,"The mouse Xlr (X-linked lymphocyte-regulated) gene family was originally identified by {2,3:Cohen et al. (1985, 1985)} by means of subtractive cDNA hybridization and cloning of lymphoid cell-specific mRNAs, followed by selection for X linkage. The gene was found to encode two 30-kD nuclear proteins expressed in lymphoid cells and in primary spermatocytes in a developmentally regulated manner. {1:Allenet et al. (1995)} reported that, in contrast to most X-linked genes, mouse Xlr sequences are not conserved in the human at the DNA level. Despite this lack of conservation, however, they identified a putative human Xlr-immunoreactive protein with features of a homolog. An Xlr-like molecule was found to be expressed in human activated lymphocytes and in human primary spermatocytes, with a stage specificity similar to that known in the mouse." +300114,"Raynaud-Claes syndrome is an X-linked intellectual developmental disorder characterized by borderline to severe intellectual disability and impaired language development. Additional features include behavioral problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms. Some heterozygous females are unaffected, whereas others are affected with a severity spectrum similar to that seen in males (summary by {4:Palmer et al. (2018)})." +300125,"For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 ({157300})." +300129,"Hematopoietic stem cells (HSCs) are primitive and generally quiescent cells that are able to support multilineage hematopoiesis. The large numbers of HSCs and redundancy in cytokine function and signal transduction mechanisms assure a stable production of blood cells throughout life. Females are natural mosaics for X chromosome-linked genes. Since X-chromosome inactivation occurs randomly, the ratio of parental phenotypes among blood cells is approximately 1 to 1. Approximately 50% of blood cells from neonates and females less than 40 years of age express maternal X chromosome genes, and 50% express paternal X chromosome genes. However, excessive skewing, defined as parental phenotype ratios greater than 3 to 1, occurs in 38 to 56% of normal females over 60 years of age ({4:Busque et al., 1996}; {7:Gale et al., 1997}; {5:Champion et al., 1997}). This has been attributed to the depletion of HSCs with aging (and the support of blood cell production by the few remaining clones) or to myelodysplasia (the dominance of a neoplastic clone). Each possibility has major implications for chemotherapy and for transplantation in elderly patients. Another possibility is hemizygous selection (a competitive advantage of all cells that express 1 parental phenotype), which is difficult to exclude in studies in an outbred human population. {3:Abkowitz et al. (1998)} found similar findings of excess skewing in longitudinal studies of female Safari cats and demonstrated that the excessive skewing has no pathologic consequence and results from hemizygous selection. Safari cats are the F1 offspring of Geoffroy (G) and domestic (d) cat parents. {3:Abkowitz et al. (1998)} showed a competitive advantage for all HSCs with a specific X chromosome phenotype and thus demonstrated that an X chromosome gene (or genes) regulates HSC replication, differentiation, and/or survival. Because of X chromosome inactivation early in embryogenesis, each somatic cell in female Safari cats, including each stem cell, expresses a d or G form of glucose-6-phosphate dehydrogenase (G6PD; {305900}) but not both. Each progenitor and differentiated cell expresses the G6PD phenotype of the HSC from which it derived.\n\nThere are many examples of hemizygous selection of differentiating blood cells in the human: in platelets and T cells of women heterozygous for the Wiskott-Aldrich syndrome ({301000}), in B cells of women heterozygous for agammaglobulinemia ({300755}), and so on. The identity of the gene or genes responsible for the selective growth advantage of HSCs with the G type of G6PD is unknown. Because Geoffroy cats (of South American origin) and domestic cats (of Eurasian origin) have evolved independently for 12 million years, it is likely that F1 Safari cats will be heterozygous at many genetic loci. Candidate genes include the cell cycle relevant determinants ({300023}) on Xq28 and the inhibitor of apoptosis gene ({300079}) on Xq25. Another candidate is the PIGA gene ({311770}) on Xp22.1, which is responsible for paroxysmal nocturnal hemoglobinuria ({300818}). {9:Luzzatto et al. (1979)} found a suggestion of hemizygous expansion of HSCs in studying heterozygotes for the Ilesha variant of G6PD in a Nigerian family with no coexistent X-chromosome-linked clinical disorder. As only red cells and granulocytes were studied, however, their observations were also compatible with a preferential (nonrandom) inactivation of the X chromosome, rather than selection with aging. Recombination between the loci for G6PD and that for hemizygous selection occurred in 3 of 5 individuals in this family.\n\n{8:Henckaerts et al. (2002)} stated that in as many as 50% of elderly women, progressive skewing of X inactivation occurs in the hematopoietic system ({5:Champion et al., 1997}; {6:Christensen et al., 2000}). Similar data were obtained in cats, in which skewed X-chromosome inactivation in all hematopoietic lineages also occurred after bone marrow transplantation ({3:Abkowitz et al., 1998}) and after repeated chemotherapy with busulfan ({2,1:Abkowitz et al., 1988, 1993}). Human female monozygotic twins that show skewed X inactivation in the hematopoietic system with aging tend to inactivate the X chromosome from the same parent ({6:Christensen et al., 2000}; {10:Vickers et al., 2001}). Thus, alleles on the X chromosome confer a growth, survival, or reconstitution advantage to stem cells. Progressive skewing of X inactivation in the hematopoietic system is likely to be caused, to a large extent, by hemizygous selection, i.e., a selective advantage of one X chromosome over another, whereas stochastic mechanisms are less dominant." +300143,"X-linked intellectual developmental disorder-21 (XLID21) is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderately impaired intellectual development to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by {11:Piton et al., 2008})." +300147,"For a general discussion of hereditary prostate cancer, see {176807}." +300148,"MEHMO syndrome is a rare intellectual disability disorder that exhibits phenotypic heterogeneity and is variably characterized by mental retardation, epileptic seizures, hypogonadism with hypogenitalism, microcephaly, and obesity. Life expectancy ranges from less than 1 year to adulthood, and the condition is associated with significant morbidity and mortality (summary by {4:Gregory et al., 2019})." +300155,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +300179,"In mammals, the potential imbalance of gene expression for the two X chromosomes in females is resolved by inactivating one X in all the somatic tissues. In the embryo proper, the process of X inactivation is believed to be random between the maternal and paternal chromosomes. Thus, most females have mosaic expression of maternal and paternal alleles of X chromosome loci, with a contribution of about 50% from each chromosome. However, some females show a skewed ratio of X inactivation, which can be due to negative or positive selection, or to an underlying primary genetic process. {1:Belmont (1996)} observed familial clustering of females with highly skewed patterns of X inactivation and reviewed the genetic control of X inactivation.\n\nSee also SXI1 ({300087}), due to mutation in the XIST gene ({314670}) on chromosome Xq13.2." +300184,"{1:Polizzi et al. (1999)} described a 5-year-old Italian boy with hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses. The authors stated that this was the first Caucasian patient reported with this disorder, which had previously been described in 10 male Oriental patients, 2 of whom were sibs ({2:Wang et al., 1989}). Body weight was below the 3rd centile in many of the patients reported." +300194,"The AMME complex is an X-linked contiguous gene deletion syndrome with features of Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis in affected males (summary by {3:Meloni et al., 2002})." +300200,"Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells ({9:Hay et al., 1981}; {28:Reutens et al., 1999}).\n\nPatients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by {27:Raffin-Sanson et al., 2013}). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC ({14:Landau et al., 2010}).\n\nA contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency ({307030}), and Duchenne muscular dystrophy (DMD; {310200}) is caused by deletion of multiple genes on chromosome Xp21 (see {300679})." +300209,"Simpson-Golabi-Behmel syndrome type 2 (SGBS2) is an X-linked recessive disorder in which affected males have severely impaired intellectual development, ciliary dyskinesia, and macrocephaly (summary by {1:Budny et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Simpson-Golabi-Behmel syndrome, see {312870}." +300215,"X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype ({1:Bonneau et al., 2002}). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome ({300004}) to infantile spasms without brain malformations (DEE1; {308350}) to syndromic ({309510}) and nonsyndromic ({300419}) mental retardation ({3:Kato et al., 2004}; {8:Wallerstein et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 ({607432})." +300221,"Classic Hodgkin lymphoma is a malignancy of B-cell origin in which the neoplastic cells, known as 'Reed-Sternberg' (RS) cells, are characteristically binucleated (summary by {7:Salipante et al., 2009}). See also {236000}." +300228,"For a general phenotypic description and a discussion of genetic heterogeneity of testicular germ cell tumors, see {273300}." +300232,"X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by {4:Miyake et al., 2017})." +300233,"{1:Manouvrier et al. (2000)} described a possibly X-linked dominant syndrome of radioulnar synostosis and radial ray abnormalities with severe malformations in the male and milder features in females. A male fetus of 14 weeks' gestation had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. The females, who were judged to be heterozygous carriers, were in 3 generations. The mother of the proband fetus had radioulnar synostosis and bilateral triphalangeal thumb. A female first cousin of the proband fetus had bilateral thumb aplasia and moderate brachymesophalangy of the fifth fingers. The maternal grandmother of the proband fetus had bilateral radioulnar synostosis, right I-II syndactyly, and left triphalangeal thumb." +300243,"The Christianson type of X-linked syndromic intellectual developmental disorder (MRXSCH) is characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Female carriers may be mildly affected (summary by {6:Schroer et al., 2010} and {5:Pescosolido et al., 2014})." +300244,"Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy ({10:Sun et al., 2010})." +300245,See PTOS1 ({178300}) for a form of ptosis that has been linked to chromosome 1p. +300257,"Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease; {232300}) with 'normal acid maltase' or alpha-glucosidase (GAA; {606800}) ({8:Danon et al., 1981}). However, {16:Nishino et al. (2000)} stated that Danon disease is not a glycogen storage disease because glycogen is not always increased.\n\n{21:Sugie et al. (2005)} classified Danon disease as a form of autophagic vacuolar myopathy, characterized by intracytoplasmic autophagic vacuoles with sarcolemmal features. The characteristic vacuole is believed to be an autolysosome surrounded by secondarily-generated membranes containing sarcolemmal proteins, basal lamina, and acetylcholinesterase activity.\n\nX-linked myopathy with excessive autophagy (XMEA; {310440}) is a distinct disorder with similar pathologic features." +300259,"For a general discussion of susceptibility to infection by Mycobacterium tuberculosis, see {607948}.\n\n{1:Bellamy et al. (2000)} conducted a 2-stage genomewide linkage study of 136 African families to search for regions of the human genome containing tuberculosis susceptibility genes. They used sib-pair families that contained 2 full sibs who had both been affected by clinical tuberculosis. For any chromosomal region containing a major tuberculosis susceptibility gene, affected sib-pairs inherit the same parental alleles much more than expected by chance. In the first round of the screen, 299 highly informative genetic markers, spanning the entire human genome, were typed in 92 sib-pairs from The Gambia and South Africa. In this process, they identified 7 chromosomal regions that showed provisional evidence of coinheritance with clinical tuberculosis. From these regions, 22 markers were genotyped in a second set of 81 sib-pairs from the same countries. Markers on 15q11-q13 and Xq showed suggestive evidence of linkage (lod = 2.00 and 1.77, respectively) to tuberculosis. An X chromosome susceptibility gene might contribute to the excess of males with tuberculosis observed in many different populations." +300260,"X-linked Lubs-type syndromic intellectual developmental disorder (MRXSL) is a neurodevelopmental disorder characterized by severely to profoundly impaired intellectual development, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections. Only males are affected, although female carriers may have some mild neuropsychiatric features, such as anxiety. Submicroscopic Xq28 duplications encompassing MECP2 are considered nonrecurrent events, because the breakpoint locations and rearrangement sizes vary among affected individuals (summary by {11:Ramocki et al., 2010})." +300261,"MRXSA is an X-linked recessive neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, usually accompanied by walking difficulties and poor or absent speech. Affected individuals have dysmorphic features, including large head circumference, downslanting palpebral fissures, bulbous nose, high-arched palate, short stature, and small hands and feet. Ocular anomalies, including strabismus, exotropia, myopia, and keratoconus, are common. Some patients may develop seizures. Additional variable features, such as mild congenital heart defects, joint stiffness, renal anomalies, and hemangiomas, may also be present (summary by {2:Lee et al., 2020})." +300263,"Siderius-type syndromic intellectual developmental disorder (MRXSSD) is an X-linked disorder in which affected males have mildly impaired intellectual development, mild dysmorphic features, and bilateral or unilateral cleft lip/palate (summary by {2:Koivisto et al., 2007})." +300266,"Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and optic atrophy (summary by {1:Steinmuller et al., 1997}).\n\nA locus for spastic paraplegia-16 has been mapped to Xq11.2-q23 ({1:Steinmuller et al., 1997}).\n\nFor a discussion of genetic heterogeneity of X-linked spastic paraplegia, see {303350}." +300270,"{1:Von Petrykowski et al. (1982)} described 2 brothers who died at ages 3 years 8 months and 1 year 7 months of primary adrenal insufficiency, dystrophic myopathy, severe psychomotor retardation, fatty degeneration of the liver, megalocornea, chronic constipation, and terminal massive bladder ectasia. The pituitary contained ACTH-producing microadenomas. They felt that the features distinguished the disorder from adrenoleukodystrophy ({300100}) and from glycerol kinase deficiency ({307030})." +300273,"Multinodular goiter is a common disorder characterized by nodular enlargement of the thyroid gland. It occurs with a female:male ratio of 5:1 (summary by {1:Capon et al., 2000}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of multinodular goiter, see MNG1 ({138800})." +300280,"Uruguay faciocardiomusculoskeletal syndrome (FCMSU) is an X-linked disorder in which affected males have a distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy leading to premature death. Additional features include large, broad, and deformed hands and feet, congenital hip dislocation, and scoliosis (summary by {2:Xue et al., 2016})." +300291,"Ectodermal dysplasia with immunodeficiency-1 (EDAID1) is an X-linked recessive disorder that characteristically affects only males. Affected individuals have onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life. There is increased susceptibility to bacterial, pneumococcal, mycobacterial, and fungal infections. Laboratory studies usually show dysgammaglobulinemia with low IgG subsets and normal or increased IgA and IgM, consistent with impaired 'class-switching' of B cells, although immunologic abnormalities may be subtle compared to the clinical picture, and B- and T-cell numbers are usually normal. There is a poor antibody response to polysaccharide vaccinations, particularly pneumococcus; response to other vaccinations is variable. Patients also have features of ectodermal dysplasia, including conical incisors, hypo/anhidrosis, and thin skin or hair. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, likely due to different hypomorphic mutations, and may be fatal in childhood. Intravenous immunoglobulins and prophylactic antibiotics are used as treatment; some patients may benefit from bone marrow transplantation. Although only males tend to be affected with immunodeficiency, many patients inherit a mutation from a mother who has mild features of IP or conical teeth (summary by {2:Doffinger et al., 2001}, {11:Orange et al., 2004}, {14:Roberts et al., 2010}, {4:Heller et al., 2020}).\n\n<Subhead> Genetic Heterogeneity of Ectodermal Dysplasia and Immune Deficiency\n\nAlso see EDAID2 ({612132}), caused by mutation in the NFKBIA gene ({164008})." +300306,"For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see {606641}." +300310,"Immunodeficiency-61 (IMD61) is an X-linked recessive primary immunodeficiency characterized by onset of recurrent infections in early childhood due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production (summary by {1:Keller et al., 2018}).\n\nFor a general phenotypic description of X-linked agammaglobulinemia, see {300755}." +300321,"Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation ({4:Unger et al., 2007}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 ({305450})." +300323,"Virtually complete deficiency of HPRT residual activity is associated with the Lesch-Nyhan syndrome (LNS; {300322}), whereas partial deficiency (at least 8%) is associated with the Kelley-Seegmiller syndrome. LNS is characterized by abnormal metabolic and neurologic manifestations. In contrast, Kelley-Seegmiller syndrome is usually associated only with the clinical manifestations of excessive purine production. Renal stones, uric acid nephropathy, and renal obstruction are often the presenting symptoms of Kelley-Seegmiller syndrome, but rarely of LNS. After puberty, the hyperuricemia in Kelley-Seegmiller syndrome may cause gout (summary by {9:Zoref-Shani et al., 2000})." +300345,"Ocular coloboma is a developmental defect of the eye resulting from abnormal or incomplete fusion of the optic fissure. The defect can be unilateral or bilateral and can involve the cornea, iris, ciliary body, lens, choroid, retina, and/or optic nerves. Clinically, coloboma is often associated with microphthalmia or clinical anophthalmia and can occur as part of complex malformation syndromes (summary by {2:Wang et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Isolated Microphthalmia With Coloboma\n\nIsolated colobomatous microphthalmia-1 (MCOPCB1) has been mapped to the X chromosome. MCOPCB2 ({605738}) has been mapped to chromosome 15q12-q15. MCOPCB3 ({610092}) is caused by mutation in the CHX10 gene ({142993}) on chromosome 14q24. MCOPCB5 ({611638}) is caused by mutation in the SHH gene ({600725}) on chromosome 7q36. MCOPCB6 ({613703}) is caused by mutation in the GDF3 gene ({606522}) on chromosome 12p13.1. MCOPCB7 ({614497}) is caused by mutation in the ABCB6 gene ({605452}) on chromosome 2q36. MCOPCB8 (see {601186}) is caused by mutation in the STRA6 gene ({601745}) on chromosome 15q24. MCOPCB9 ({615145}) is caused by mutation in the TENM3 gene ({610083}) on chromosome 4q35. See {251505} for a discussion of MCOPCB4.\n\n<Subhead> Associations Pending Confirmation\n\nFor a discussion of a possible association between colobomatous microphthalmia and variation in the MYO10 gene, see {601481}.\n\nFor a discussion of a possible association between colobomatous microphthalmia and variation in the ZNF219 gene, see {605036}." +300351,"For a phenotypic description and a discussion of genetic heterogeneity of Graves disease, see {275000}." +300352,"Cerebral creatine deficiency syndrome-1 (CCDS1) is an X-linked disorder of creatine (Cr) transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment (summary by {16:van de Kamp et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Cerebral Creatine Deficiency Syndrome\n\nSee also CCDS2 ({612736}), caused by mutation in the GAMT gene ({601240}) on chromosome 19p13, and CCDS3 ({612718}), caused by mutation in the AGAT gene (GATM; {602360}) on chromosome 15q21." +300354,"The Cabezas type of X-linked syndromic intellectual developmental disorder is characterized primarily by short stature, hypogonadism, and abnormal gait, with other more variable features such as speech delay, prominent lower lip, and tremor ({1:Cabezas et al., 2000})." +300367,"XLTDA is an X-linked recessive hematologic disorder characterized by thrombocytopenia and abnormal platelet morphology and function due to defective platelet maturation. Some patients have a variable severity of dyserythropoietic anemia (summary by {4:Millikan et al., 2011})." +300373,"Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae ({9:Jenkins et al., 2009}). In males, the disorder is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability due to pressure on cranial nerves, e.g., deafness. Osteopathia striata is a frequent feature of focal dermal hypoplasia (FDH; {305600}).\n\nAlthough early reports of familial cases of this disorder appeared to suggest autosomal dominant inheritance (see, e.g., {8:Horan and Beighton, 1978} and {12:Konig et al., 1996}), reappraisal of the literature ({3:Behninger and Rott, 2000}; {22:Rott et al., 2003}) and the finding of a molecular basis for the disorder by {9:Jenkins et al. (2009)} confirms that the inheritance pattern is X-linked dominant. Affected males who survive have a more severe phenotype than affected females, and sporadic male cases may result from somatic mosaicism ({3:Behninger and Rott, 2000})." +300376,"The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms until much later in life. Loss of ambulation also varies from adolescence onward, with death usually in the fourth or fifth decade. In some cases, as in Duchenne muscular dystrophy, a degree of mental impairment is present ({13:Emery, 2002}).\n\nAs in DMD, about 5 to 10% of female carriers of this X-linked disorder show muscle weakness, and frequently enlarged calves--so-called manifesting heterozygotes. Such weakness is often asymmetric; it can develop in childhood or not become evident until adult life, and can be slowly progressive or remain static. Because weakness is essentially proximal, differentiation from limb-girdle muscular dystrophy is essential for genetic counseling. In both DMD and BMD, female carriers may develop dilated cardiomyopathy in the absence of apparent weakness ({19:Grain et al., 2001})." +300388,"Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding ({10:Kuzniecky et al., 1993}).\n\nPMG may be a feature of other conditions as well (see, e.g., {300643})." +300406,"For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 ({305450})." +300419,"Intellectual developmental disorder-29 (XLID29) is a nonspecific form of XLID. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; {300215}) to Proud syndrome ({300004}) to infantile spasms without brain malformations (DEE1; {308350}) to Partington syndrome ({309510}) ({8:Kato et al., 2004}; {13:Wallerstein et al., 2008})." +300422,"FG syndrome-4 (FGS4) is an X-linked recessive intellectual developmental disorder characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by {4:Piluso et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 ({305450})." +300423,"The Hedera type of X-linked syndromic intellectual developmental disorder (MRXSH) is characterized by global developmental delay apparent from infancy and progressive neurologic decline with abnormal movements, spasticity, and seizures. Brain imaging shows volume loss of cortical white and gray matter, thin corpus callosum, and myelination defects, consistent with a neurodegenerative process. Only males are affected (summary by {3:Hirose et al., 2019})." +300425,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({2:Bailey et al., 1996}; {5:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({4:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({6:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +300438,"HSD10 mitochondrial disease (HSD10MD) most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by {9:Rauschenberger et al., 2010}; {17:Zschocke, 2012}).\n\nIn a review of this disorder, {17:Zschocke (2012)} noted that although it was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS)." +300464,"For a discussion of genetic heterogeneity of coronary heart disease (CHD), see {607339}." +300475,"Deafness, dystonia, and cerebral hypomyelination is an X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging (summary by {1:Cacciagli et al., 2013})." +300476,"Cone-rod dystrophy is a retinal disorder with predominantly cone involvement. Rod impairment may occur at the same time as the cone impairment or appear later. Patients with CORD usually have reduced visual acuity, photophobia, and color vision defects (summary by {3:Huang et al., 2013}).\n\nFor a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see {304020}." +300488,"Age at natural menopause has been associated with variation on chromosome Xp21.3. Other quantitative trait loci (QTLs) for age at natural menopause include MENOQ2 ({612884}) on chromosome 19q13.4, MENOQ3 ({612885}) on chromosome 20p12.3, and MENOQ4 ({612886}) on chromosome 5q35.2." +300494,"Asperger syndrome is considered to be a form of childhood autism (see, e.g., {209850}). The DSM-IV ({1:American Psychiatric Association, 1994}) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. {2:Gillberg et al. (2001)} described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.\n\nFor a discussion of genetic heterogeneity of Asperger syndrome, see {608638}." +300495,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({1:Bailey et al., 1996}; {6:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({3:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({7:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +300496,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({1:Bailey et al., 1996}; {6:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({4:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({7:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +300497,"Asperger syndrome is considered to be a form of childhood autism (see, e.g., {209850}). The DSM-IV ({1:American Psychiatric Association, 1994}) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. {2:Gillberg et al. (2001)} described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.\n\nFor a discussion of genetic heterogeneity of Asperger syndrome, see {608638}." +300500,"Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus' (summary by {41:Xiao and Zhang, 2009})." +300509,"For a phenotypic description and a discussion of genetic heterogeneity of susceptibility loci for dyslexia, see DYX1 ({127700})." +300510,"Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea ({8:Timmreck and Reindollar, 2003}). Most cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development ({9:Zinn et al., 1998}; {7:Simpson and Rajkovic, 1999}; {5:Marozzi et al., 2000})." +300514,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nPatients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H (see {314390}), for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia ({9:McCauley et al., 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +300519,"Martin-Probst syndrome (MRXSMP) is characterized by congenital sensorineural hearing loss, mild to severe cognitive impairment, short stature, and facial dysmorphism, including telecanthus, hypertelorism, epicanthic folds, broad mouth, and low-set ears. Variable features include renal and genitourinary abnormalities and late-onset pancytopenia ({1:Martin et al., 2000})." +300523,"Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. In severe cases, patients never gain the ability to walk or talk (summary by {15:Maranduba et al., 2006})." +300539,"The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. The syndrome manifests as an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality, and natriuresis. SIADH occurs in a setting of normal blood volume, without evidence of renal disease or deficiency of thyroxine or cortisol. Although usually transient, SIADH may be chronic; it is often associated with drug use or a lesion in the central nervous system or lung. When the cardinal features of SIADH were defined by {1:Bartter and Schwartz (1967)}, levels of AVP could not be measured. Subsequently, radioimmunoassays revealed that SIADH is usually associated with measurably elevated serum levels of AVP. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP ({2:Feldman et al., 2005})." +300554,"X-linked recessive hypophosphatemic rickets is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' ({5:Scheinman, 1998}; {2:Gambaro et al., 2004}). For a general discussion of Dent disease, see {300009}." +300555,"Dent disease-2 (DENT2) is an X-linked disorder of renal tubular epithelial function in which all of the clinical findings may be traced to impaired reabsorption of filtered solutes. Characteristic abnormalities include low molecular weight proteinuria and other features of Fanconi syndrome (see {134600}), such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones (summary by {2:Hoopes et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Dent disease, see {300009}." +300557,"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}." +300559,"Glycogen storage disease IXd (GSD9D) is an X-linked recessive, relatively mild metabolic disorder characterized by variable exercise-induced muscle weakness or stiffness. Most patients have adult onset of symptoms, and some remain asymptomatic even in late adulthood. The phenotype is usually only apparent with intense exercise (summary by {6:Preisler et al., 2012}).\n\nFor a discussion of genetic heterogeneity of GSD IX, see GSD9A ({306000})." +300580,"For a general phenotypic description of congenital fiber-type disproportion, see CFTD ({255310})." +300581,"For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 ({305450})." +300582,"Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations (SD) of national height standards in the absence of specific causative disorders ({15:Rao et al., 1997}).\n\nFor a discussion of genetic heterogeneity of quantitative trait loci for stature, see STQTL1 ({606255})." +300589,"Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' ({5:Tarpey et al., 2006}; {4:Shiels et al., 2007}).\n\nFor a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 ({310700})." +300590,"Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene ({608667}) on chromosome 5p13 (CDLS1; {122470}) (summary by {3:Musio et al., 2006}, {1:Hoppman-Chaney et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}." +300591,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +300600,"Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect ({303900}), progressive myopia, and defective dark adaptation. Although AIED has been referred to as a form of albinism, there is no misrouting of the optic nerves, which excludes it from the formal diagnosis of classic albinism ({7:King et al., 2001})." +300605,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +300607,"Developmental and epileptic encephalopathy-8 (DEE8) is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by {3:Shimojima et al., 2011}).\n\nFor general phenotypic descriptions and discussions of genetic heterogeneity of developmental and epileptic encephalopathy and hyperekplexia, see DEE1 ({308350}) and HKPX1 ({149400}), respectively." +300613,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of myopia, see {160700}." +300614,"X-linked deafness-5 is a neurologic disorder characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment affecting the peripheral nervous system (summary by {7:Zong et al., 2015})." +300615,"Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation associated with MAOA deficiency ({1:Brunner et al., 1993})." +300622,"Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by {1:Beck, 2000}).\n\nTn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1; {610555}), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by {6:Vainchenker et al., 1985} and {3:Crew et al., 2008})." +300623,"{21:Jacquemont et al. (2007)} provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder. {2:Amiri et al. (2008)} provided a review of FXTAS and noted that the pathogenesis of the disorder is distinct from that in fragile X syndrome. FXTAS results form a toxic gain of function of FMR1 RNA, whereas fragile X syndrome results from a loss of FMR1 function.\n\nThe penetrance of FXTAS in male carriers aged 50 years and over, ascertained through families with a fragile X syndrome proband, is at least 33% ({12:Hagerman and Hagerman, 2004}); its penetrance in female carriers is approximately 5-10% ({11:Greco et al., 2008})." +300624,"Fragile X syndrome (FXS) is characterized by moderately to severely impaired intellectual development, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw. In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 transcription and decreased protein levels in the brain ({36:Devys et al., 1993}).\n\n<Subhead> Reviews\n\nFragile X syndrome accounts for about one-half of cases of X-linked impaired intellectual development and is the second most common cause of mental impairment after trisomy 21 ({190685}) ({149:Rousseau et al., 1995}).\n\n{116:McCabe et al. (1999)} summarized the proceedings of a workshop on the fragile X syndrome held in December 1998.\n\n{82:Jacquemont et al. (2007)} provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder." +300633,"Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe. Due to developmental arrest of urethral fusion, the urethral opening is displaced along the ventral side of the penis. The opening can be located glanular, penile, or even more posterior in the scrotum or perineum. Although most children with this condition undergo surgery in their second year of life, serious medical, social, and sexual problems may still exist later in life (summary by {8:van der Zanden et al., 2011}). Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome ({300068}) and Opitz syndrome ({300000}).\n\n<Subhead> Genetic Heterogeneity of Hypospadias\n\nSee also HYSP2 ({300758}), caused by mutation in the MAMLD1 gene ({300120}) on chromosome Xq28; HYSP3 ({146450}), a familial form which has been mapped to chromosome 7q32.2-q36.1; and HYSP4 ({300856}), a susceptibility locus mapped to chromosome Xp11.22 and associated with variation in the DGKK gene ({300837})." +300635,"XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA; {191160}), and general dysregulation of the immune pathway, such as increased levels of IL18 ({600953}). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by {8:Yang et al., 2012}; review by {2:Latour and Aguilar, 2015}).\n\n{2:Latour and Aguilar (2015)} provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 ({308240})." +300636,"Immunodeficiency-33 (IMD33) is an X-linked recessive disorder that affects only males. It is characterized by early-onset severe infections, usually due to pneumococcus, H. influenzae, and atypical mycobacteria, although other organisms have also been detected. Immunologic investigations may show variable abnormalities or may be normal. Disturbances include dysgammaglobulinemia with hypogammaglobulinemia, decreased IgG2, aberrant levels of IgM and IgA, and decreased class-switched memory B cells. There is often poor, but variable, response to vaccination; in particular, most patients do not develop antibodies to certain polysaccharide vaccines, notably pneumococcus. Other immunologic abnormalities may include impaired NK cytotoxic function, impaired cytokine production upon stimulation with IL1B ({147720}) or TNFA ({191160}), low IL6 ({147620}), low IL12 (see {161561}), and decreased IFNG ({147570}). Patients do not have overt abnormalities of T-cell proliferation, although signaling pathways, such as CD40LG ({300386})/CD40 ({109535}), may be disturbed. There is heterogeneity in the immunologic phenotype, resulting in highly variable clinical courses, most likely due to the different effects of hypomorphic mutations. Treatment with antibiotics and IVIg is usually beneficial; hematopoietic stem cell transplantation may not be necessary, but can be effective. Features of hypohidrotic ectodermal dysplasia are generally not present, although some patients may have conical teeth or hypodontia (summary by {12:Orange et al., 2004}, {3:Filipe-Santos et al., 2006}, {14:Salt et al., 2008}, {6:Heller et al., 2020})." +300645,"IMD34 results in predisposition to infections by poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and nontuberculous environmental bacteria. Affected individuals are also susceptible to the more virulent species Mycobacterium tuberculosis ({2:Bustamante et al., 2007})." +300650,"In a large Afrikaner kindred, {1:Winship et al. (1984)} observed 7 males in 4 sibships in 3 generations with the combination of typical ocular albinism and sensorineural deafness of late onset. Typicality of the ocular albinism was supported by numerous macromelanosomes demonstrated on skin biopsy of both affected males and carriers. Deafness was moderately severe by late middle age. The pedigree pattern was consistent with X-linked recessive inheritance. In the same large South African family, {2:Winship et al. (1993)} found tight linkage to the DXS452 locus at Xp22.3 using 25 informative meioses, with a maximum lod score of 7.1 at a recombination fraction of 0.0. Since OA1 ({300500}) has been mapped to Xp22.3-p22.2, {2:Winship et al. (1993)} suggested that OA1 and OASD may be allelic variants or that they may be due to contiguous gene defects.\n\nThe X-linked disorder described in {300700} differs by the presence of patchy, cutaneous hypo- and hyperpigmentation and the absence of significant eye involvement." +300652,"Angioma serpiginosum (AS) is a rare benign congenital skin disorder characterized by nonpurpuric red punctate lesions seen histologically as capillary ectasias in the superficial papillary dermis. The lesions often follow Blaschko lines and are most commonly found in females (90%) ({1:Blinkenberg et al., 2007}).\n\nSee {106050} for additional phenotypic information and possible autosomal dominant inheritance or cutaneous somatic mosaicism ({2:Chen et al., 2006}; {1:Blinkenberg et al., 2007})." +300653,"Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations ({9:Shirakawa et al., 2006})." +300661,"Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness ({6:Becker et al., 1988}; {16:Roessler et al., 1993}).\n\nAlthough different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production ({10:Becker, 2001})." +300672,"Developmental and epileptic encephalopathy-2 (DEE2) is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in impaired intellectual development and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome ({312750}), but DEE2 is considered to be a distinct entity (summary by {4:Fehr et al., 2013}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +300673,"The MECP2 gene is mutated in Rett syndrome (RTT; {312750}), a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Since then, additional reports have confirmed a severe phenotype in males with RTT-associated MECP2 mutations ({6:Moog et al., 2003}; {10:Villard, 2007}).\n\nMales with non-RTT mutations in the MECP2 gene can demonstrate a wide variety of phenotypes: see also nonspecific X-linked mental retardation, X-linked mental retardation with spasticity ({300055}), and X-linked mental retardation due to increased dosage of the MECP2 gene ({300260})." +300679,"Infantile or complex glycerol kinase deficiency is a contiguous gene syndrome caused by microdeletion of GK ({300474}) and its neighboring genes, dystrophin ({300377}), which causes Duchenne muscular dystrophy (DMD; {310200}), and NR0B1 ({300473}), which causes congenital adrenal hypoplasia (AHC; {300200}). Patients present with hyperglycerolemia and glyceroluria, associated with DMD and/or AHC (summary by {29:Stanczak et al., 2007})." +300696,"X-linked myopathy with postural muscle atrophy (XMPMA) is a progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder ({5:Windpassinger et al., 2008}).\n\nThe clinical features of Emery-Dreifuss muscular dystrophy (see EDMD1; {310300}) classically include the triad of muscle weakness, joint contractures, and cardiac involvement, thus showing clinical overlap with XMPMA ({1:Gueneau et al., 2009})." +300703,"For a discussion of genetic heterogeneity of X-linked spinocerebellar ataxia (SCAX), see SCAX1 ({302500})." +300704,"For a general discussion of hereditary prostate cancer, see {176807}." +300710,"For a phenotypic description and a discussion of genetic heterogeneity of androgenetic alopecia, see AGA1 ({109200})." +300711,"For a phenotypic description and a discussion of genetic heterogeneity of infantile hypertrophic pyloric stenosis (IHPS), see {179010}." +300717,"Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B; {300718}) (summary by {3:Liewluck et al., 2007} and {6:Shalaby et al., 2009})." +300718,"Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death (RBMX1A; {300717}), and a less severe form has onset in late childhood or adulthood (RBMX1B) (summary by {3:Liewluck et al., 2007} and {7:Shalaby et al., 2009})." +300749,"Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severely impaired intellectual development and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by {3:Moog et al., 2011})." +300750,"The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of {2:Fink et al. (1996)} and {1:Fink (1997)}. Some forms of SPG are considered 'uncomplicated,' i.e., progressive spasticity occurs in isolation; others are considered 'complicated,' i.e., progressive spasticity occurs with other neurologic features.\n\nA locus for spastic paraplegia-34 has been mapped to Xq24-q25 ({4:Starling et al., 2002}).\n\nFor a discussion of genetic heterogeneity of X-linked spastic paraplegia, see {303350}." +300751,"The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (2) marrow ringed sideroblasts, particularly prominent in the late erythroid precursors; (3) a variable hematologic response to pharmacologic doses of pyridoxine; and (4) systemic iron overload secondary to chronic ineffective erythropoiesis. The age of clinical onset of the disorder can vary from in utero to the ninth decade. Whereas males are preferentially affected, females may present with clinically severe anemia. More commonly, female carriers of the disease have an increased red blood cell distribution width and sometimes erythrocyte dimorphism ({18:Fleming, 2002}).\n\n<Subhead> Genetic Heterogeneity of Sideroblastic Anemia\n\nSee also SIDBA2 ({205950}), caused by mutation in the SLC25A38 gene ({610819}) on chromosome 3p22; SIDBA3 ({616860}), caused by mutation in the GLRX5 gene ({609588}) on chromosome 14q32; SIDBA4 ({182170}), caused by mutation in the HSPA9 gene ({600548}) on chromosome 5q31; and SIDBA5 ({619523}), caused by mutation in the HSCB gene ({608142}) on chromosome 22q12." +300752,"X-linked erythropoietic protoporphyria (XLEPP) is a metabolic disorder of heme biosynthesis characterized by onset in early childhood of severe photosensitivity associated with decreased iron stores and increased erythrocyte zinc- and metal-free protoporphyrin. Some patients may develop liver disease or gallstones (summary by {2:Ducamp et al., 2013}).\n\nFor a discussion of genetic heterogeneity of erythropoietic protoporphyria, see EPP1 ({177000})." +300755,"X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development ({42:Rawlings and Witte, 1994}). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see {300310}. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders ({28:Lopez Granados et al., 2002}; {10:Ferrari et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Agammaglobulinemia/Hypogammaglobulinemia\n\nA form of X-linked hypogammaglobulemia (IMD61; {300310}) is caused by mutation in the SH3KBP1 gene ({300374}) on chromosome Xq22.\n\nSee agammaglobulinemia-1 (AGM1; {601495}) for a discussion of genetic heterogeneity of autosomal forms of agammaglobulinemia." +300756,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}." +300770,"Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB ({138960}) expression. Acquired PAP ({610910}), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 ({138960}) ({1:Martinez-Moczygemba et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 ({265120})." +300799,"Raymond-type X-linked syndromic intellectual developmental disorder (MRXSR) is characterized by mildly to severely impaired intellectual development with speech and language difficulties associated with variable additional features, including marfanoid habitus, epilepsy, facial dysmorphism, hypotonia, and behavioral problems (summary by {1:Baker et al., 2015} and {4:Schirwani et al., 2018})." +300804,"Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis ({2:Coene et al., 2009}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}." +300809,"The SLEB15 locus designates a region on chromosome Xq28.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see {152700}." +300813,"Synovial sarcomas, which represent approximately 10% of all soft tissue sarcomas, are aggressive spindle cell sarcomas containing in some cases areas of epithelial differentiation. They consistently show a specific t(X;18)(p11.2;q11.2), which usually represents either of 2 gene fusions, SYT ({600192})-SSX1 ({312820}) or SYT-SSX2 ({300192}), encoding putative transcriptional proteins differing at 13 amino acid positions (summary by {9:Ladanyi et al., 2002}).\n\nSynovial sarcoma, according to the experience of {2:Enzinger and Weiss (1983)}, is the fourth most common type of soft tissue sarcoma. It usually develops in adolescents and young adults, is more common in males than in females, and has no racial predilection." +300814,"Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' ({4:Tarpey et al., 2006}; {3:Shiels et al., 2007}).\n\nFor a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 ({310700})." +300816,"Combined oxidative phosphorylation deficiency-6 (COXPD6) is an X-linked recessive severe encephalomyopathic disorder with onset in utero or in infancy. Affected patients have hypotonia and severely impaired psychomotor development associated with variably decreased enzymatic activity of mitochondrial respiratory complexes in skeletal muscle or fibroblasts. More variable features may include sensorimotor neuropathy, seizures, severe muscle weakness, abnormal signals in the basal ganglia, hypertrophic cardiomyopathy, deafness, swallowing difficulties, and respiratory insufficiency. Death in childhood may occur (summary by {1:Berger et al., 2011}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +300818,"Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon acquired hemolytic anemia that often manifests with hemoglobinuria, abdominal pain, smooth muscle dystonias, fatigue, and thrombosis. The disease results from the expansion of hematopoietic stem cells harboring a mutation in the PIGA gene, which encodes a protein required for the biosynthesis of glycosylphosphatidylinositol (GPI), a lipid moiety that attaches dozens of proteins to the cell surface. Thus, PNH cells are deficient in cell surface GPI-anchored proteins. This deficiency on erythrocytes leads to intravascular hemolysis, since certain GPI-anchored proteins (i.e., CD55 ({125240}) and CD59 ({107271})) normally function as complement regulators. Free hemoglobin released from intravascular hemolysis leads to circulating nitrous oxide depletion and is responsible for many of the clinical manifestations of PNH, including fatigue, erectile dysfunction, esophageal spasm, and thrombosis (review by {5:Brodsky, 2008}).\n\n<Subhead> Genetic Heterogeneity of Paroxysmal Nocturnal Hemoglobinuria\n\nSee also PNH2 ({615399}), which may be caused by germline and somatic mutation in the PIGT gene ({610272}) on chromosome 20q13." +300830,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior ({1:Bailey et al., 1996}; {9:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({4:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({10:Schellenberg et al., 2006}).\n\n{5:Levy et al. (2009)} provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options." +300831,"CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. It is named after the first identified patient (summary by {2:McLarren et al., 2010}).\n\nCHILD syndrome ({308050}) is an allelic disorder with a different phenotype." +300835,"XLANP is an X-linked recessive hematologic disorder characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia. Some patients may have low platelets or platelet abnormalities. The severity is variable. Some patients have shown a favorable response to corticosteroid treatment (summary by {2:Hollanda et al., 2006} and {6:Sankaran et al., 2012}).\n\nIn some cases, the disorder may resemble Diamond-Blackfan anemia (see, e.g., DBA1; {105650}) ({6:Sankaran et al., 2012}; {5:Parrella et al., 2014}; {3:Klar et al., 2014})." +300842,"Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease ({143100}). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by {9:Jung et al., 2007}).\n\nThe cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD; {306400}) results from a contiguous gene deletion ({6:Francke et al., 1985})." +300843,"Bornholm eye disease consists of X-linked high myopia, amblyopia, and deuteranopia. Associated signs include optic nerve hypoplasia, reduced electroretinographic (ERG) flicker, and nonspecific retinal pigment abnormalities ({5:Schwartz et al., 1990})." +300844,"X-linked intellectual development disorder-19 (XLID19) is characterized by mildly to moderately impaired intellectual development. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS; {303600}), a syndrome with impaired intellectual deveopment, dysmorphic facial features, and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with impaired intellectual development and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by {3:Field et al., 2006})." +300845,"This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts. Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the internal carotid arteries and the main branches, leading to the development of small collateral vessels (moyamoya vessels) at the base of the brain. Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by {2:Miskinyte et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350})." +300847,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({1:Bailey et al., 1996}; {6:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({4:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({7:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +300853,"XMEN is an X-linked recessive immunodeficiency characterized by CD4 ({186940}) lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation ({5:Li et al., 2011}). Affected individuals have chronic Epstein-Barr virus (EBV) infection and are susceptible to the development of EBV-associated B-cell lymphoproliferative disorders. Magnesium supplementation may be therapeutic (summary by {6:Li et al., 2014})." +300854,"Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations with breakpoints involving the TFE3 gene within tumor cells. The result is a TFE3 transcription factor gene fusion with 1 of multiple reported genes including ASPRCR1 ({606236}) on chromosome 17q25 and PRCC ({179755}) on 1q21, and more rarely, NONO ({300084}) on Xq13, SFPQ ({605199}) on 1p34, CLTC ({118955}) on 17q23, and unknown genes on chromosomes 3 and 10. Xp11 translocations are often found in pediatric tumors and less commonly in adults. However, adult cases may outnumber pediatric cases since renal cell carcinoma is more common in the adult population. Prior chemotherapy is a known risk factor for Xp11 translocations. Histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed (review by {6:Ross and Argani, 2010}).\n\nFor a discussion of genetic heterogeneity of renal cell carcinoma, see RCC ({144700})." +300855,"Ogden syndrome is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by {3:Popp et al., 2015})." +300856,"For a phenotypic description and a discussion of genetic heterogeneity of hypospadias, see HYSP1 ({300633})." +300860,"The Nascimento type of X-linked syndromic intellectual developmental disorder (MRXSN) is characterized by dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy. Female carriers have normal cognition, but may show subtle facial features (summary by {1:Budny et al., 2010})." +300867,"Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy ({8:Niikawa et al., 1981}).\n\nFor a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 ({147920})." +300868,"Multiple congenital anomalies-hypotonia-seizures syndrome-2 is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by {5:Johnston et al., 2012}). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by {1:Belet et al., 2014}, {6:Kato et al., 2014}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of MCAHS, see MCAHS1 ({614080}).\n\nFor a discussion of nomenclature and genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +300869,"Chromosome Xq27.3-q28 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by mild mental retardation, mild facial dysmorphism, short stature, and primary testicular failure manifest as high-pitched voice, sparse body hair, abdominal obesity, and small testes. Female carriers may have short stature and premature ovarian failure (summary by {1:Rio et al., 2010})." +300870,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800})." +300872,"X-linked autism-6 is a neurodevelopmental disorder that affects only males. Some patients may respond favorably to carnitine supplementation (summary by {8:Ziats et al., 2015}).\n\nAutism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({1:Bailey et al., 1996}; {6:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({4:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({7:Schellenberg et al., 2006}).\n\nFor a discussion of heterogeneity of autism, see {209850}." +300882,"Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene ({608667}) on chromosome 5p13 (CDLS1; {122470}), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene ({300040}) (CDLS2; {300590}) (summary by {7:Musio et al., 2006}, {4:Hoppman-Chaney et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}." +300884,"Developmental and epileptic encephalopathy-36 (DEE36) is an X-linked neurodevelopmental disorder characterized by the onset of seizures at a mean age of 6.5 months. Most patients present with infantile spasms associated with hypsarrhythmia on EEG, consistent with a clinical diagnosis of West syndrome. The seizures tend to be refractory to treatment, although some patients may respond to benzodiazepines or a ketogenic diet. Affected individuals have severely delayed psychomotor development with poor motor function, severe intellectual disability, poor or absent speech, and limited eye contact. More variable features include feeding difficulties sometimes requiring tube feeding, ocular defects including cortical visual impairment, dysmorphic facial features, and scoliosis or osteopenia. The vast majority of patients reported have been females, although rare affected males with a similar phenotype have been described. Most patients show normal N-glycosylation on transferrin isoelectric focusing, but some show abnormal N-glycosylation consistent with CDG type I (summary by {9:Ng et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of the classification of CDGs, see CDG1A ({212065})." +300888,"Central hypothyroidism and testicular enlargement (CHTE) is characterized by central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, and occasional transient partial GH deficiency. Some carrier females also exhibit central hypothyroidism and mild prolactin deficiency. Inter- and intrafamilial variability has been observed ({2:Joustra et al., 2016})." +300894,"NBIA5, sometimes referred to as 'static encephalopathy of childhood with neurodegeneration in adulthood (SENDA),' is an X-linked neurodegenerative disorder characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. Brain MRI shows iron accumulation in the globus pallidus and substantia nigra. A characteristic finding is T1-weighted hyperintensity surrounding a central band of hypointensity in the substantia nigra. Cerebral and cerebellar atrophy are also observed (summary by {2:Haack et al., 2012} and {5:Saitsu et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 ({234200})." +300896,"Congenital disorder of glycosylation type IIm, or early infantile epileptic encephalopathy-22, is an X-linked dominant severe neurologic disorder characterized by infantile-onset seizures, hypsarrhythmia on EEG, hypotonia, and developmental delay associated with severe intellectual disability and lack of speech. These features are consistent with developmental and epileptic encephalopathy (DEE). Brain malformations usually include cerebral and cerebellar atrophy. Additionally, some patients may have dysmorphic features or coarse facies ({2:Ng et al., 2013}; {1:Kodera et al., 2013}).\n\nFor a general discussion of CDGs, see CDG1A ({212065}) and CDG2A ({212066}). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +300908,"G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see {611162}) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by {8:Cappellini and Fiorelli, 2008})." +300909,"Approximately 40 million people take ACE inhibitors (ACEi) to treat hypertension and cardiovascular disease. A small proportion of white patients who take ACEi (0.1-0.7%) develop angioedema (AEACEI) ({7:Israili and Hall, 1992}; {8:Vleeming et al., 1998}), a potentially life-threatening side effect characterized by swelling of the face, lips, tongue, and airway that can lead to suffocation and death if severe. ACEi-associated angioedema is 4 to 5 times more prevalent among African Americans ({3:Brown et al., 1996}; {5:Coats, 2002}). Other risk factors include female sex, smoking, immunosuppressant therapy, and seasonal allergies. The pathophysiology of ACEi-associated angioedema is thought to be related to increased circulating bradykinin, which is normally degraded by ACE. During pharmacologic ACE inhibition, bradykinin is primarily degraded by aminopeptidase P (summary by {6:Duan et al., 2005} and {9:Woodard-Grice et al., 2010}). Aminopeptidase P is encoded by 3 genes: XPNPEP1 ({602443}) on chromosome 10q25, XPNPEP2 ({300145}) on chromosome Xq25, and XPNPEP3 ({613553}) on chromosome 22q13." +300912,"X-linked intellectual developmental disorder-98 (XLID98) is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by {2:de Lange et al., 2016})." +300918,"X-linked Olmsted syndrome (OLMSX) is a rare keratinization disorder characterized by the combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis, and constriction of the digits (summary by {4:Yaghoobi et al., 2007}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Olmsted disease, see OLMS1 ({614594})." +300942,"X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1; {139250}) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds ({1:Beckers et al., 2015})." +300953,"Trichothiodystrophy-5 (TTD5) is an X-linked disorder characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities (summary by {2:Mendelsohn et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 ({601675})." +300957,"X-linked intellectual developmental disorder-12 (XLID12) is characterized by borderline to severe intellectual disability with variable neurologic features, short stature, and elevated body mass index (BMI) ({3:Kumar et al., 2015})." +300958,"Syndromic X-linked mental retardation of the Snijders Blok type (MRXSSB), which occurs predominantly in females, is characterized by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioral problems ({7:Snijders Blok et al., 2015}; {5:Nicola et al., 2019})." +300960,"Male EBP disorder with neurologic defects is an X-linked recessive disorder representing a continuous phenotypic spectrum with variable manifestations associated with a defect in sterol biosynthesis. Features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. Not all patients show all features, and the severity is highly variable. Molecular studies indicate that affected males are hemizygous for a nonmosaic hypomorphic EBP allele. Carrier females are generally clinically asymptomatic, but may show biochemical abnormalities (summary by {1:Arnold et al., 2012} and {3:Barboza-Cerda et al., 2014})." +300963,"Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by {1:Kolanczyk et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 ({220210})." +300966,"X-linked syndromic intellectual developmental disorder-33 (MRXS33) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by {1:O'Rawe et al., 2015})." +300967,"X-linked syndromic intellectual developmental disorder-34 (MRXS34) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with poor speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum (summary by {1:Mircsof et al., 2015})." +300968,"Female-restricted X-linked syndromic intellectual developmental disorder-99 (MRXS99F) is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by {2:Reijnders et al., 2016})." +300971,"Antenatal Bartter syndrome is a potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. Polyuria lasts from a few days to 6 weeks, ending around 30 to 33 weeks of gestational age. Other features in the neonatal period include hypercalciuria, causing nephrocalcinosis in some cases, as well as hyponatremia, hypokalemia, and elevated renin and aldosterone; these subsequently resolve or normalize, although nephrocalcinosis may persist ({2:Laghmani et al., 2016})." +300972,"Immunodeficiency-47 (IMD47) is an X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Some patients also have neurologic abnormalities (summary by {2:Jansen et al., 2016})." +300978,"Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities (summary by {1:Frints et al., 2019}).\n\nAlso see Fryns syndrome ({229850}), an autosomal recessive disorder with overlapping features." +300979,"Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by {3:Leroy et al., 2016})." +300985,"Congenital bilateral absence of the vas deferens (CBAVD) is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD (see {277180}), mutations are identified in the CFTR gene ({602421}). The forms caused by mutations in the CFTR and ADGRG2 genes are clinically indistinguishable (summary by {1:Patat et al., 2016})." +300986,"MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by {1:Bain et al., 2016})." +300988,"IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by {1:Lagresle-Peyrou et al., 2016})." +300990,"Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by {1:Andreoletti et al., 2017})." +300991,"CILD36 is an X-linked recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects due to ciliary dysfunction at the embryonic node (summary by {2:Paff et al., 2017}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +301000,"Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections ({46:Lemahieu et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Wiskott-Aldrich Syndrome\n\nSee Wiskott-Aldrich syndrome-2 (WAS2; {614493}), caused by mutation in the WIPF1 gene ({602357}). Also see {600903} for a possible autosomal dominant form of the disorder." +301006,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by {1:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300})." +301008,"The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by {2:Damiano et al., 2017})." +301010,"X-linked myopia-26 is characterized by female-limited early-onset high myopia. The fundus of affected individuals shows a tigroid appearance, and there is a temporal crescent of the optic nerve head ({1:Xiao et al., 2016}).\n\nFor a discussion of genetic heterogeneity of myopia, see {160700}." +301014,"Osteogenesis imperfecta type XIX (OI19) is characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, as well as variable scoliosis and pectal deformity, and marked anterior angulation of the tibia ({1:Lindert et al., 2016})." +301018,"DFNX7 is a congenital form of bilateral mixed or conductive hearing loss, which may be progressive. It is not associated with vestibular symptoms ({1:Xing et al., 2017})." +301025,"Paganini-Miozzo syndrome (MRXSPM) is a neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features (summary by {1:Paganini et al., 2019})" +301026,"Keipert syndrome (KPTS) is characterized by craniofacial and digital abnormalities and variable learning difficulties. The distinctive facial appearance includes broad forehead, hypertelorism, prominent nose, wide mouth, and prominent upper lip with cupid's bow configuration. Digital anomalies are also distinctive, with widening of all distal phalanges, particularly of the thumbs and great toes ({2:Amor et al., 2019})." +301028,"Nephrotic syndrome type 20 (NPHS20) is an X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first decade of life in affected males. The course of the disorder is highly variable: some patients progress to end-stage kidney disease and may die in childhood without renal transplantation, whereas others have milder symptoms and maintain normal renal function. Carrier females may have a milder disorder with proteinuria or may be unaffected. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) and effacement of podocyte foot processes (summary by {1:Dorval et al., 2019} and {2:Kampf et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300})." +301029,"Shukla-Vernon syndrome (SHUVER) is an X-linked recessive neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development, and behavioral abnormalities, including autism spectrum disorder and ADHD. Dysmorphic features are common and may include tall forehead, downslanting palpebral fissures, and tapering fingers. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier mothers may have mild manifestations, including learning disabilities (summary by {2:Shukla et al., 2019})." +301030,"Van Esch-O'Driscoll syndrome (VEODS) is characterized by varying degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations ({1:Van Esch et al., 2019})." +301032,"Basilicata-Akhtar syndrome (MRXSBA) is characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech. Most patients are able to walk, although they may have an unsteady gait or spasticity. Additional findings include dysmorphic facial features and mild distal skeletal anomalies. Males and females are similarly affected (summary by {1:Basilicata et al., 2018})." +301033,"Congenital nongoitrous hypothyroidism-8 (CHNG8) is characterized by relatively mild central hypothyroidism, which may be accompanied by hearing loss in some patients ({2:Heinen et al., 2016})." +301035,"Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH) ({1:Heinen et al., 2018})." +301039,"Hackmann-Di Donato-type X-linked syndromic intellectual developmental disorder (MRXSHD) is an X-linked recessive phenotype characterized by global developmental delay with hypotonia, delayed speech, and mildly delayed walking associated with somatic marfanoid features, including tall stature, long fingers, and mildly dysmorphic facies. Some patients may have cardiac defects, such as mitral valve regurgitation, as well as other anomalies related to connective tissue defects, such as scoliosis (summary by {1:Fiordaliso et al., 2019})." +301041,"Female-restricted Wieacker-Wolff syndrome (WRWFFR) is an X-linked dominant syndromic form of neurogenic arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement. Affected individuals have decreased fetal movements causing the development of contractures in utero and resulting in AMC and diffuse contractures involving the large and small joints apparent at birth. There is global developmental delay with difficulty walking or inability to walk, hypotonia that often evolves to spasticity, and variably impaired intellectual development with poor or absent speech and language. Dysmorphic facial features, including hypotonic facies, ptosis, microretrognathia, and small mouth, are seen in most patients. Seizures are uncommon; some patients have evidence of a peripheral motor neuropathy with distal muscle weakness. The level of X inactivation in lymphocytes and fibroblasts is often skewed, but may not predict the severity of the phenotype. Most cases occur sporadically; rare X-linked dominant inheritance has been reported in families (summary by {1:Frints et al., 2019})." +301043,"X-linked holoprosencephaly-13 (HPE13) is a neurologic disorder characterized by midline developmental defects that mainly affect the brain and craniofacial structure. The severity and manifestations are variable: some patients may have full alobar HPE with cyclopia, whereas others have semilobar HPE or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. Additional variable features include congenital heart defects and vertebral anomalies. Phenotypic variability may be related to the type of mutation, X-inactivation status, and possible incomplete penetrance. The STAG2 protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; HPE13 can thus be classified as a 'cohesinopathy' (summary by {2:Kruszka et al., 2019}).\n\nFor a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 ({236100})." +301044,"Developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85) is an X-linked neurologic disorder characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. The seizures tend to show a cyclic pattern with clustering. Many patients have midline brain defects on brain imaging, including thin corpus callosum and/or variable forms of holoprosencephaly (HPE). The severity and clinical manifestations are variable. Almost all reported patients are females with de novo mutations predicted to result in a loss of function (LOF). However, some patients may show skewed X inactivation, and the pathogenic mechanism may be due to a dominant-negative effect. The SMC1A protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; DEE85 can thus be classified as a 'cohesinopathy' (summary by {6:Symonds et al., 2017} and {4:Kruszka et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +301045,"Congenital disorder of glycosylation type 2R (CDG2R) is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some patients may also have mild intellectual impairment and dysmorphic features. Laboratory studies showed defective glycosylation of serum transferrin in a type 2 pattern (summary by {1:Rujano et al., 2017}).\n\nFor an overview of congenital disorders of glycosylation, see CDG1A ({212065}) and CDG2A ({212066})." +301050,"Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by {43:Kashtan, 1999}).\n\n<Subhead> Genetic Heterogeneity of Alport Syndrome\n\nAlport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (ATS2; {203780}); autosomal dominant inheritance (ATS3; {104200}) is rare ({43:Kashtan, 1999}).\n\nSee also benign familial hematuria (BFH; {141200}), a phenotypically similar, but milder disorder.\n\nAlport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis ({308940}) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME; {300194})." +301051,"Immunodeficiency-74 (IMD74) is an X-linked recessive specific immunologic disorder characterized by the development of severe respiratory insufficiency in response to infection with the COVID19 coronavirus, also known as SARS-CoV-2 ssRNA coronavirus. Affected individuals usually require mechanical ventilation in the ICU in order to survive. Laboratory studies show activation of the immune response and may show perturbation of some values, such as increased D-dimers and fibrinogen. In vitro functional studies of patient immune cells show impaired signaling through the TLR7 pathway, resulting in defective type I and type II interferon (IFN) responses. The patients reported to date did not have a history of immunodeficiency or chronic disease (summary by {1:van Der Made et al., 2020})." +301052,"Warfarin is a widely prescribed anticoagulant for the prevention of thromboembolic diseases for subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement. The dose requirement is highly variable, both interindividually and interethnically ({5:Yuan et al., 2005})." +301054,"VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome (VEXAS) is an adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death (summary by {2:Beck et al., 2020})." +301056,"X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems (summary by {2:Tripolszki et al., 2021} and {1:Beck et al., 2021}). {1:Beck et al. (2021)} referred to the disorder as LINKED syndrome (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects)." +301058,"Developmental and epileptic encephalopathy-90 (DEE90) is an X-linked neurologic disorder characterized by onset of refractory seizures in the first days or months of life. Although most patients have focal seizures associated with oromotor automatisms and apnea, various seizure types may occur, including epileptic spasms, generalized tonic-clonic, and absence. EEG shows multifocal discharges; hypsarrhythmia, intermittent burst suppression, and slow spike-wave background resembling Lennox-Gastaut syndrome may also be observed. Affected individuals have global developmental delay with variable severity, but it is usually profound or severe. Some are unable to walk or speak, whereas others may achieve some milestones and show autistic features (summary by {1:Fry et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +301059,"X-linked spermatogenic failure-3 (SPGFX3) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +301060,"Obstructive azoospermia with nephrolithiasis (OAZON) is characterized by male infertility due to obstruction at the head of the epididymis, as well as hypercalciuria and kidney stones ({1:Askari et al., 2019})." +301066,"X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies (MRXSPF) is characterized by a phenotypic triad of severe developmental delay, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females ({2:Villegas et al., 2019}; {1:Diaz et al., 2020})." +301068,"Hardikar syndrome (HDKR) is an X-linked dominant multiple congenital anomaly disorder reported only in females. Features include foregut malformations, intestinal malrotation, liver and biliary tract disease, genitourinary abnormalities, cleft lip and palate, and pigmentary retinopathy. Some patients may have congenital cardiac defects or vascular abnormalities, including aortic coarctation and carotid/intracranial aneurysms. Neurodevelopment and cognition is normal (summary by {3:Li et al., 2021})." +301071,"X-linked thrombophilia due to factor VIII defect (THPH13) is associated with markedly elevated F8 levels and severe thrombophilia (summary by {2:Simioni et al., 2021})." +301072,"Neurodevelopmental disorder with epilepsy and hemochromatosis (NEDEPH) is an X-liked recessive disorder characterized by global developmental delay, early-onset seizures, and progressive systemic iron deposition particularly affecting the liver and resulting in juvenile-onset hemochromatosis. Variable additional features may include joint contractures, visual or hearing impairment, and skin abnormalities (summary by {3:Swoboda et al., 2014} and {2:Muckenthaler et al., 2022})." +301074,"X-linked familial Behcet-like autoinflammatory syndrome-2 (AIFBL2) is an X-linked recessive disorder characterized by the onset of inflammatory symptoms in the first decade of life in male patients. Affected males often present with oral mucosal ulceration and skin inflammation. More variable features may include gastrointestinal ulceration, arthritis, recurrent fevers, and iron deficiency anemia. Laboratory studies are consistent with immune dysregulation manifest as increased inflammatory markers and variable immune cell abnormalities, such as decreased NK cells and low memory B cells. One patient presented with recurrent infections and immunodeficiency in addition to autoinflammation. The disorder results from a defect in ELF4, which normally acts as a negative regulator of inflammatory disease. Symptoms may respond to blockade of IL1 (see {147760}) or TNFA ({191160}) (summary by {2:Tyler et al., 2021} and {1:Sun et al., 2022}).\n\nFor a discussion of genetic heterogeneity of AIFBL, see AIFBL1 ({616744})." +301075,"X-linked adult-onset distal myopathy-7 (MPD7) is an X-linked recessive disorder that affects only males. It is characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. The disorder is slowly progressive, with most affected individuals developing distal upper limb involvement and some developing proximal muscle involvement, although patients remain ambulatory. Muscle biopsy shows variable myopathic changes as well as sarcoplasmic inclusions that may represent abnormally aggregated proteins (summary by {1:Johari et al., 2021})." +301076,"The Pilorge type of X-linked syndromic intellectual developmental disorder (MRXSP) is characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities, including autism spectrum disorder (ASD). More variable features include motor incoordination, seizures, and ocular abnormalities (summary by {1:Marcogliese et al., 2022})." +301077,"X-linked spermatogenic failure-4 (SPGFX4) is characterized by male infertility due to azoospermia or oligoasthenoteratozoospermia. Some patients show maturation arrest, and Sertoli cell-only phenotype has been observed ({2:Hardy et al., 2021}; {1:Arafat et al., 2021}; {3:Kherraf et al., 2022}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +301078,"X-linked immunodeficiency-98 with autoinflammation (IMD98) is characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia ({1:Aluri et al., 2021}; {3:Fejtkova et al., 2022})." +301080,"Systemic lupus erythematosus-17 (SLE17) is an X-linked dominant autoimmune disorder characterized by onset of systemic autoinflammatory symptoms in the first decades of life. Only affected females have been reported. Features may include classic features of SLE, such as malar rash and arthralgias, or can include less common entities such as hemiplegia and neuromyelitis optica (NMO). Laboratory studies show the presence of autoantibodies and enhanced NFKB ({164011}) signaling, the latter being consistent with a gain-of-function effect ({1:Brown et al., 2022}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see {152700}." +301081,"X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature ({1:de Jesus et al., 2020} and {2:Lee et al., 2022})." +301082,"Immunodeficiency-102 (IMD102) is an X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation ({1:Delmonte et al., 2021})." +301083,"Hemolytic anemia due to elevated adenosine deaminase (HAEADA) is an X-linked hematologic disorder characterized by onset of mild to moderate red cell anemia soon after birth or in childhood. The anemia is associated with significantly increased activity of ADA ({608958}) specifically in erythrocyte precursors. ATP levels may be secondarily decreased. Additional features may include low birth weight, thrombocytopenia, hypospadias, and splenomegaly. Males are preferentially affected, although carrier females may show elevated erythrocyte ADA or mild features ({7:Ludwig et al., 2022})." +301200,"Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms ({22:Witkop, 1988})." +301201,"For a description of hypoplastic/hypomaturation amelogenesis imperfecta, see {301200}." +301220,"X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by {8:Starokadomskyy et al., 2016})." +301410,"For a general phenotypic description and a discussion of genetic heterogeneity of neural tube defects, see {182940} and {601634}." +301500,"Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from deficient or absent activity of the lysosomal enzyme alpha-galactosidase A. This enzymatic defect leads to the systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes of vessels, nerves, tissues, and organs throughout the body ({89:Nance et al., 2006}). The disorder is a systemic disease, manifest as progressive renal failure, cardiac disease, cerebrovascular disease, small-fiber peripheral neuropathy, and skin lesions, among other abnormalities ({119:Schiffmann, 2009}).\n\nAn atypical variant of Fabry disease has been reported in which cardiac disease, specifically left ventricular hypertrophy, with or without renal failure, develops in the sixth decade of life. These patients have residual GLA activity ({88:Nakao et al., 1995}; {87:Nakao et al., 2003}).\n\nAlthough Fabry disease was previously considered to be an X-linked recessive disorder, {140:Wang et al. (2007)} found that heterozygous women with Fabry disease experience significant life-threatening conditions requiring medical treatment and intervention. Thus, heterozygous Fabry women should not be called carriers, as this term underestimates the seriousness of the disease in these patients.\n\n{22:Clarke (2007)} and {119:Schiffmann (2009)} provided detailed reviews of Fabry disease." +301790,"For a discussion of genetic heterogeneity of X-linked spinocerebellar ataxia (SCAX), see SCAX1 ({302500})." +301800,"{2:Weinstein (1965)} reported 3 families with multiple affected males in a pattern strongly suggesting X-linked recessive inheritance. In a later paper, {3:Winkler and Weinstein (1970)} described 2 families, each with 2 sisters with imperforate anus and/or ectopic anus (rectovaginal fistula). They then proposed autosomal recessive inheritance for some cases (see {207500}). {1:Bensen and Burton (1989)} reported a family in which imperforate anus with or without hypospadias occurred in 4 males in 3 sibships of 2 generations, the males being connected through presumed carrier females. In addition, 1 male, the son of a sister of an affected male, had hypospadias only. Hearing loss was found in 3 of the 4 males with imperforate anus and in 2 of the presumptive carrier females." +301815,"{1:Ladda et al. (1993)} described the cases of 2 brothers with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal, and molecular studies using DNA markers showed no evidence of submicroscopic deletion from the Xq12-q13 region, where the locus for hypohidrotic ectodermal dysplasia is situated. The parents and a sister were normal." +301830,"X-linked spinal muscular atrophy-2 (SMAX2) is characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures, known as arthrogryposis, associated with loss of anterior horn cells and infantile death (summary by {6:Ramser et al., 2008}).\n\nHistorically, {4:Hall et al. (1982)} distinguished at least 3 clinical varieties of X-linked arthrogryposis. (1) One family had a severe lethal form with severe contractures, scoliosis, chest deformities, hypotonia, micrognathia, and death from respiratory insufficiency by age 3 months. Apparently progressive loss of anterior horn cells was the cause. (2) Two families had moderately severe AMC associated with ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence. Nonprogressive intrauterine myopathy appeared to be the 'cause'. (3) In 2 families and a sporadic case, the disorder took the form of a resolving AMC, with mild to moderate contractures improving dramatically with time, normal intelligence, and no other anomalies; tight connective tissues on misplaced tendons was postulated." +301835,"Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy ({4:de Brouwer et al., 2007}). Susceptibility to infections, especially of the upper respiratory tract, can result in early death." +301840,"For a discussion of genetic heterogeneity of X-linked spinocerebellar ataxia (SCAX), see SCAX1 ({302500})." +301845,"Bazex syndrome is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward ({16:Yung and Newton-Bishop, 2005}).\n\nRombo syndrome ({180730}) has similar features, but shows autosomal dominant inheritance." +301850,"Microtubules are filamentous structures that serve in a variety of cellular functions including cell mobility, intracellular transport, and cell division. Microtubules are heterodimers of 2 major proteins, alpha- and beta-tubulin. The amino acid sequence of the tubulins is highly conserved evolutionarily, enabling the use of a chicken cDNA probe for identification of human tubulin genes by Southern blotting. {1:Darlington et al. (1982)} used such a probe in studies of human/mouse cell hybrids to demonstrate that 1 beta-tubulin gene is located on the X chromosome; it may be a pseudogene. Other loci in this multigene family are located elsewhere in the genome." +301900,"Borjeson-Forssman-Lehmann syndrome (BFLS) is an uncommon X-linked intellectual developmental disorder that evolves with age. Clinical manifestations in males are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected (summary by {5:Crawford et al., 2006})." +301940,"{1:Mononen et al. (1992)} suggested X-linked dominant inheritance for a syndrome that had as its most striking feature short, abducted thumbs and markedly short and abducted great toes. Variable mild short stature and mild bowleg with proximal overgrowth of the fibula were also features. The x-rays of the hands and feet showed short first metacarpals and first metatarsals, absent distal phalanges of the index fingers and second toes, and coalescence of the carpal and tarsal bones. Males were similarly affected, whereas females showed phenotypic variation and were generally less severely affected. Two rather extensively affected pedigrees were observed. There was no male-to-male transmission and all daughters of affected males were thought to be affected. Similar changes in the hands and feet have been described without associated changes of skeletal dysplasia (see {112450})." +301950,"{3:Toriello et al. (1985)} reported 2 brothers and their male maternal first cousin with branchial arch defects and other anomalies. All 3 showed microcephaly, downslanting palpebral fissures, highly arched palate, apparently low-set, protruding ears, bilateral hearing loss, slightly webbed neck, somewhat short stature, and learning disability. Cryptorchidism was present in 2 and subvalvular pulmonic stenosis and body asymmetry in 1.\n\n{4:Zelante et al. (1993)} reported another patient with this syndrome.\n\n{2:Puri and Phadke (2002)} reported a boy with mild mandibulofacial dysostosis, growth retardation with microcephaly, bilateral hearing loss, thoracic deformity with a cardiac valvular lesion, and bilateral cryptorchidism. The authors considered the patient to have the Toriello type of mandibulofacial dysostosis with some additional features, including pectus excavatum. They suggested that the 2 sibs reported by {1:Delb et al. (2001)} also had the Toriello type of MFD." +302000,"Hereditary bullous dystrophy of the macular type (HBDM) is a rare X-linked recessive disorder characterized by the formation of bullae without evident trauma, hyper- and hypopigmentation, absence of hair at birth, and, in some cases, microcephaly, mildly impaired intellectual development, short conic fingers, and aberrations of nails (summary by {8:Wijker et al., 1995})." +302030,"Calvarial hyperostosis is a benign X-linked disorder that affects only the skull. Symptoms are prominent frontoparietal bones, flat nasal root, short upturned nose, high forehead with ridging of the metopic and sagittal sutures, and lateral frontal prominences. Radiographs of the skull show increased bone thickness at the sagittal suture line and prominent lateral frontal horns. Increased intracranial pressure and cranial nerve entrapment do not occur (summary by {1:Borra et al., 2014})." +302060,"Barth syndrome (BTHS) is an X-linked disease conventionally characterized by dilated cardiomyopathy (CMD) with endocardial fibroelastosis (EFE), a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Features of the disease that are less well known include hypertrophic cardiomyopathy, isolated left ventricular noncompaction (LVNC), ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood (summary by {36:Steward et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I ({250950})." +302350,"Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by {4:Burdon et al., 2003})." +302400,{1:Huskins (1930)} described an English family with affected members of at least 3 generations. He specifically stated that there was 'no evidence of any other defective condition being associated with this dental anomaly.' There was 1 affected female in the family. +302500,"SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by {2:Bertini et al., 2000}).\n\n<Subhead> Genetic Heterogeneity of X-linked Spinocerebellar Ataxia\n\nX-linked recessive spinocerebellar ataxia (SCAX) is a clinically and genetically heterogeneous disorder. See also SCAX2 ({302600}), SCAX3 ({301790}), SCAX4 ({301840}), and SCAX5 ({300703})." +302600,"For a discussion of genetic heterogeneity of X-linked spinocerebellar ataxia (SCAX), see SCAX1 ({302500})." +302700,"{2:Ford (1966)} referred to this form as the subacute childhood type. It begins at age 8-10 years and is characterized by deafness, blindness, weakness and spasticity of the legs, and dementia. Survival is shorter after onset of symptoms. However, in the family reported by {4:Scholz (1925)}, although the affected males in the youngest generation showed this picture, their maternal grandfathers, aged 65 and 60, had the picture of spastic paraplegia. {4:Scholz (1925)} used histologic techniques which would have removed metachromatic material. When the cases of Scholz were restudied by {3:Peiffer (1959)} using frozen sections, striking metachromasia was demonstrated. {5:Walsh (1957)} described under the heading of Schilder disease, or encephalitis periaxialis diffusa, a kindred in which 4 males, offspring of sisters, succumbed to an illness possibly of the type shown by Scholz's youngest patients. See also Addison disease and cerebral sclerosis ({300100}). It seems highly probable that Scholz's patients suffered from a form of adrenoleukodystrophy ({300100}); the family reported by {5:Walsh (1957)} should be restudied." +302800,"Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. On the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1) and primary peripheral axonal (type 2) neuropathies. The demyelinating neuropathies classified as CMT type 1, also known as HMSN I, are characterized by severely reduced motor nerve conduction velocities (NCV) (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy (see CMT1B; {118200}). The axonal neuropathies classified as CMT type 2, also known as HMSN II, are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; {118210}). Distal hereditary motor neuropathy (dHMN) (see {158590}) is a spinal type of CMT characterized by exclusive motor involvement and sparing of sensory nerves ({40:Pareyson, 1999}). There are X-linked, autosomal dominant (see {118200}), and autosomal recessive (see {214400}) forms of CMT.\n\nThe form of Charcot-Marie-Tooth neuropathy that maps to chromosome Xq13 (CMTX1) is X-linked dominant or X-linked intermediate; heterozygous females are more mildly affected than are hemizygous males.\n\n<Subhead> Genetic Heterogeneity of X-linked Charcot-Marie-Tooth Disease\n\n{29:Ionasescu et al. (1991)} presented data suggesting the existence of an X-linked recessive CMT disease on Xp22.2 (CMTX2; {302801}). CMTX3 is caused by a genomic rearrangement between chromosomes 8q24.3 and Xq27.1. Cowchock syndrome ({310490}), which maps to chromosome Xq26, is also referred to as CMTX4. CMTX5 ({311070}) is caused by mutation in the PRPS1 gene ({311850}) on chromosome Xq22. CMTX6 ({300905}) is caused by mutation in the PDK3 gene ({300906}) on Xp22." +302801,"For a phenotypic description and discussion of genetic heterogeneity of X-linked CMT, see CMTX1 ({302800})." +302803,"{1:Castle et al. (1992)} described a family in which 2 male first cousins, sons of sisters, had type I hereditary motor and sensory neuropathy as well as aplasia cutis congenita of the scalp with underlying skull defect. Another male related to these 2 as a first cousin once removed through females had died at birth with a gross skull defect. The obligatory carrier females in this family, although not aware of muscle weakness or sensory abnormality, were found to have minor distal muscle wasting with some degree of evident denervation. Sensory testing revealed abnormalities. Type I CMT is characterized by delayed nerve induction. X-linked CMT without scalp defect has been related to at least 3 loci ({302800}, {302801}, and {302802})." +302900,"In the families reported by {3:Van Bogaert and Moreau (1939-41)}, Charcot-Marie-Tooth disease and Friedreich ataxia occurred in the same individuals in a pattern of sex-linked recessive inheritance. Possibly this is a mutation distinct from that responsible for the 2 disorders separately. If the genes for peroneal muscular atrophy and Friedreich ataxia are closely situated on the X chromosome, deletion is another possible explanation for the finding in this family, namely, a 'contiguous gene syndrome' ({2:Schmickel, 1986}). In the kindred reported by {1:Biemond (1928)}, some individuals had Charcot-Marie-Tooth disease (in a pedigree pattern consistent with X-linked inheritance), whereas 2 females of 1 sibship had Friedreich ataxia. In addition, many members of the kindred had congenital deafness (in a pattern consistent with autosomal recessive inheritance). Thus, 3 seemingly independent hereditary traits were observed in the same family. Van Bogaert's family is probably the only one in which the 2 neurologic diseases always occurred together in an X-linked pattern." +302960,"Chondrodysplasia punctata (CDP) is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. X-linked dominant CDP, also known as Conradi-Hunermann syndrome, is the most well-characterized form. CDPX2 arises almost exclusively in females and is usually lethal in males. In addition to radiographic stippling, the disorder is characterized by rhizomelic shortness, transient congenital ichthyosis following the lines of Blaschko, patchy alopecia, cataracts, and midface hypoplasia. Affected males are extremely rare and the clinical features in males almost always result from postzygotic mosaicism for an EBP mutation (summary by {2:Aughton et al., 2003} and {1:Arnold et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Chondrodysplasia Punctata\n\nSee also CDPX1 ({302950}), caused by mutation in the ARSE gene ({300180}).\n\nSee {118650}, {602497}, and {118651} for possible autosomal dominant forms of CDP. In addition, CDP can be caused by maternal vitamin K deficiency or warfarin teratogenicity (see {118650})." +303100,"Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye ({4:Cremers et al., 1990}). The characteristic lesion of choroideremia is chorioretinal scalloped atrophy in the midperipheral fundus, with preservation of the macula ({20:Li et al., 2014}).\n\nSee also choroideremia, deafness, and mental retardation ({303110}), a contiguous gene deletion syndrome involving the CHM and POU3F4 ({300039}) genes on Xq21. X-linked deafness-2 with stapes fixation (DFNX2; {304400}) is also caused by mutation in the CHM gene." +303350,"The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of {5:Fink et al. (1996)} and {4:Fink (1997)}. Some forms of SPG are considered 'uncomplicated,' i.e., progressive spasticity occurs in isolation; others are considered 'complicated,' i.e., progressive spasticity occurs with other neurologic features. X-linked, autosomal dominant (see {182600}), and autosomal recessive (see {270800}) forms of SPG have been described.\n\nSpastic paraplegia-1 is usually called MASA syndrome, the designation originally suggested by {1:Bianchine and Lewis (1974)}, because the main clinical features are summarized by the acronym MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs). The shuffling gait is probably caused by spasticity of the lower limbs, and all affected males have been reported to have increased reflexes. The adducted thumbs are thought to be caused by hypoplastic or absent extensor pollicis longus or brevis muscles. In affected males, the onset of speech is delayed ({23:Winter et al., 1989}).\n\nSee {314100} for isolated X-linked congenital clasped thumb and {201550} for an autosomal adducted thumbs syndrome.\n\n<Subhead> Genetic Heterogeneity of X-linked Spastic Paraplegia\n\nOther forms of X-linked spastic paraplegia include SPG2 ({312920}), caused by mutation in the myelin proteolipid protein gene (PLP1; {300401}); SPG16 ({300266}), mapped to Xq11.2-q23; and SPG34 ({300750}), mapped to Xq24-q25." +303600,"Coffin-Lowry syndrome is a rare form of X-linked mental retardation characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females ({24:Kesler et al., 2007}).\n\n{19:Hendrich and Bickmore (2001)} reviewed human disorders which share in common defects of chromatin structure or modification, including the ATR-X spectrum of disorders ({301040}), ICF syndrome ({242860}), Rett syndrome ({312750}), Rubinstein-Taybi syndrome ({180849}), and Coffin-Lowry syndrome.\n\n{39:Pereira et al. (2010)} provided a review of Coffin-Lowry syndrome.\n\nMutation in the RPS6KA3 gene can also cause nonsyndromic X-linked mental retardation-19 (MRX19; {300844}), a milder disorder without skeletal anomalies." +303700,"Blue cone (OPN1SW; {613522}) monochromatism is a rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia (review by {6:Gardner et al., 2009}). There is evidence for progression of disease in some BCM families ({13:Nathans et al., 1989}; {3:Ayyagari et al., 2000}; {12:Michaelides et al., 2005})." +303800,"Normal color vision in humans is trichromatic, being based on 3 classes of cone that are maximally sensitive to light at approximately 420 nm (blue cones; {613522}), 530 nm (green cones; {300821}), and 560 nm (red cones; {300822}). Comparison by neural circuits of light absorption by the 3 classes of cone photoreceptors allows perception of red, yellow, green, and blue colors individually or in various combinations. Dichromatic color vision is severely defective color vision based on the use of only 2 types of photoreceptors, blue plus green (protanopia; see {303900}) or blue plus red (deuteranopia). Anomalous trichromacy is trichromatic color vision based on a blue, green, and an anomalous red-like photoreceptor (protanomaly), or a blue, red, and an anomalous green-like photoreceptor (deuteranomaly). The color vision defect is generally mild but may in certain cases be severe. Common variation in red-green color vision exists among both normal and color-deficient individuals (review by {11:Deeb, 2005})." +303900,"Normal color vision in humans is trichromatic, being based on 3 classes of cone that are maximally sensitive to light at approximately 420 nm (blue cones; {613522}), 530 nm (green cones; {300821}), and 560 nm (red cones; {300822}). Comparison by neural circuits of light absorption by the 3 classes of cone photoreceptors allows perception of red, yellow, green, and blue colors individually or in various combinations. Dichromatic color vision is severely defective color vision based on the use of only 2 types of photoreceptors, blue plus green (protanopia) or blue plus red (deuteranopia; see {303800}). Anomalous trichromacy is trichromatic color vision based on a blue, green, and an anomalous red-like photoreceptor (protanomaly), or a blue, red, and an anomalous green-like photoreceptor (deuteranomaly). The color vision defect is generally mild but may in certain cases be severe. Common variation in red-green color vision exists among both normal and color-deficient individuals (review by {3:Deeb, 2005})." +304020,"X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors ({5:Demirci et al., 2002}). Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings ({10:Hong et al., 1994}).\n\n<Subhead> Genetic Heterogeneity of X-linked Cone-Rod Dystrophy\n\nAdditional forms of X-linked cone-rod dystrophy include CORDX2 ({300085}), mapped to chromosome Xq27, and CORDX3 ({300476}), caused by mutation in the CACNA1F gene ({300110}) on chromosome Xp11.23.\n\nFor a discussion of autosomal forms of cone-rod dystrophy, see CORD2 ({120970})." +304030,"{1:Heckenlively and Weleber (1986)} described 2 families with a 'new' form of X-linked cone dystrophy characterized by a peculiar greenish-golden tapetal-like sheen of large areas of the retina; onset of symptoms in the third decade; gradual loss of vision with development of macular lesions in older patients; defective color vision; elevated cone thresholds on dark adaptometry; and abnormalities of the cone-mediated electroretinogram. One patient developed rhegmatogenous retinal detachment in one eye. Although the disorder was different from Oguchi disease ({258100}) in clinical features and mode of inheritance, the patients showed the Mizuo-Nakamura phenomenon as in Oguchi disease: fading of the retinal sheen with clearer revealing of choroidal structures, on dark adaptation." +304050,"Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae ('holes'). Flexion spasms in the infant represent the usual mode of clinical presentation ({1:Aicardi, 1999})." +304110,"Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism ({27:Twigg et al., 2004}; {30:Wieland et al., 2004})." +304120,"Otopalatodigital syndrome-2 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1; {305620}), otopalatodigital syndrome-1 (OPD1; {311300}), and Melnick-Needles syndrome (MNS; {309350}), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by {15:Robertson, 2005}). {24:Verloes et al. (2000)} suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'" +304150,"Occipital horn syndrome (OHS) is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by {5:Das et al., 1995})." +304200,"{1:Akesson (1965)} described 5 males in 3 sibships of 2 generations who may have had this combination of manifestations. Only the proband was examined in full. The author pointed out that, although X-linked inheritance seemed likely, most other cases of cutis verticis gyrata and mental retardation seem to have autosomal inheritance." +304300,"Initial studies (reviewed by {8:Stern, 1960}) showed male-female frequencies and family data consistent with X-linked recessive inheritance of inability to smell cyanide. Further studies seemed to indicate that the situation is more complex ({6:Kirk and Stenhouse, 1953}). The same conclusion was reached by {3:Brown and Robinette (1967)} and by {5:Giles et al. (1968)}. The work of the last group of researchers perhaps excluded X-linkage." +304340,"Pettigrew syndrome is characterized by mental retardation and highly variable additional features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain, both between and within families (summary by {1:Cacciagli et al., 2014}).\n\nSee {311510} for another X-linked mental retardation syndrome associated with basal ganglia disease (Waisman syndrome).\n\nSee {220219} for another mental retardation syndrome with Dandy-Walker malformation." +304350,"In a pedigree strongly supportive of X-linked recessive inheritance, {3:Myhre et al. (1982)} described 5 males with severe congenital mixed hearing loss and primary hypogonadism. The affected males also showed antisocial and immature behavior. An isolated case was observed in an unrelated family. Partial heterochromia iridis occurred in both affected and unaffected members of the large pedigree. It is not clear from the article whether the 'unaffected' persons with heterochromia iridis were carrier females. Audiograms in carrier females showed no hearing loss. {2:Brunner et al. (1991)} suggested that this phenotype represents a contiguous gene syndrome. Evidence supporting that was presented by {1:Bach et al. (1992)}: in a study with molecular probes of 13 unrelated male probands with Gusher-associated, X-linked mixed deafness (DFN3; {304400}), they found microdeletions in 2. One of these, from the family of {3:Myhre et al. (1982)}, had the more extensive deletion, suggesting a locus for hypogonadism in the vicinity of the DFN3 gene. It was stated that the proband, TD, had a fixed stapes and gusher with progressive mixed deafness." +304400,"DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by {11:de Kok et al., 1995} and {29:Song et al., 2010}).\n\nSee also choroideremia, deafness, and mental retardation ({303110}), a contiguous gene deletion syndrome involving the POU3F4 and CHM ({300390}) genes on Xq21; isolated choroideremia ({303100}) is caused by mutation in the CHM gene." +304790,"IPEX is an X-linked recessive immunologic disorder characterized by onset in infancy of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Other features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The disorder may be fatal before age 2 years if not aggressively treated. Long-term therapeutic options include immunosuppression and hematopoietic stem cell transplantation (review by {7:d'Hennezel et al., 2012})." +304800,"Nephrogenic diabetes insipidus (NDI) is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; {192340}). Approximately 90% of patients are males with the X-linked recessive form (type I; NDI1), which is caused by a defect in the vasopressin V2 receptor in renal collecting duct cells. The remaining 10% of patients have autosomal NDI (type II; NDI2, {125800}), which is caused by mutations in the gene encoding the aquaporin-2 water channel (AQP2; {107777}) on chromosome 12q13 ({24:Morello and Bichet, 2001}).\n\nNeurogenic, or central, diabetes insipidus ({125700}) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13." +304950,"{2:Yunis et al. (1980)} described a Colombian family in which 10 males in 3 generations, in a typical X-linked recessive pedigree pattern, had the Dyggve-Melchior-Clausen syndrome. The affected males varied in age from 13 to 15 years. Normal intelligence was another difference from the autosomal recessive form. The authors cited some reported families that are equally consistent with X-linked or autosomal recessive inheritance ({223800}). {1:Spranger (1981)} suggested that the disorder described by {2:Yunis et al. (1980)} was in fact X-linked SED tarda ({313400})." +305000,"Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by {32:Kirwan and Dokal, 2008}).\n\nHoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by {55:Walne et al., 2013}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550})." +305100,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by {15:Cluzeau et al., 2011})." +305350,"{1:Androphy et al. (1985)} described a kindred in which a 56-year-old man had EDV, none of his 5 sons or 5 daughters had EDV, and 4 of his grandsons (through 2 daughters) had EDV. All were infected with human papillomavirus 3 (HPV 3) and with HPV 8. The proband, who had onset of warts at age 5 years with no regression over the next 50 years and with extension to cover about 10% of his skin surface, had squamous carcinoma arising on sun-exposed areas of the face, ears, neck, back, arms, and hands over the previous 25 years. Other pedigrees have suggested autosomal inheritance although whether dominant as suggested by some families or recessive as suggested by parental consanguinity (see {226400}) is not certain." +305390,"Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {9:Poulter et al., 2010}).\n\nFor a discussion of genetic heterogeneity of FEVR, see EVR1 ({133780})." +305400,"Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have impaired intellectual development, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by {28:Orrico et al., 2010})." +305435,"For a general phenotypic description and a discussion of loci that may affect fetal hemoglobin production, see HBFQTL1 ({141749})." +305450,"Opitz-Kaveggia syndrome (OKS) is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces. Most have hypotonia, constipation, and partial agenesis of the corpus callosum. Some patients have sensorineural hearing loss and joint laxity evolving into joint contractures. Affected individuals tend to be hyperactive and talkative (summary by {10:Graham et al., 1999}).\n\nIn their original family, {19:Opitz and Kaveggia (1974)} named the disorder 'FG syndrome' according to the Opitz system of using initials of patients' surnames.\n\n<Subhead> Genetic Heterogeneity of FG Syndrome\n\nOther forms of 'FG syndrome' were characterized due to the similar clinical features observed by {19:Opitz and Kaveggia (1974)}. FGS2 ({300321}) is caused by mutation in the FLNA gene ({300017}) on chromosome Xq28 and FGS4 ({300422}) is caused by mutation in the CASK gene ({300172}) on chromosome Xp11. FGS3 ({300406}) has been mapped to Xp22.3, and FGS5 ({300581}) to Xq22.3.\n\n{24:Risheg et al. (2007)} suggested that the designation Opitz-Kaveggia syndrome be reserved for those cases with mutation in the MED12 gene. In part this is justified by the fact that a MED12 mutation was found in the family originally reported by {19:Opitz and Kaveggia (1974)}.\n\nSee also Lujan-Fryns syndrome ({309520}), an allelic disorder with an overlapping phenotype." +305550,"By histochemistry and electron microscopy, {1:Fardeau et al. (1976)} studied muscle biopsy specimens from 2 half brothers with a congenital mild muscle disorder and from their asymptomatic mother. The boys showed numerous fingerprint bodies located at the periphery of the muscle fibers. Fingerprint bodies were not found in the mother, but other slight but definite changes were found. This is the first description of familial occurrence of a fingerprint body myopathy." +305600,"Focal dermal hypoplasia is inherited as an X-linked dominant with in utero lethality in males. The features include atrophy and linear pigmentation of the skin, herniation of fat through the dermal defects, and multiple papillomas of the mucous membranes or skin. In addition, digital anomalies consist of syndactyly, polydactyly, camptodactyly, and absence deformities. Oral anomalies, in addition to lip papillomas, include hypoplastic teeth. Ocular anomalies (coloboma of iris and choroid, strabismus, microphthalmia) have also been present in some cases. Mental retardation occurs in some patients. Striated bones are probably a nearly constant feature ({27:Larregue and Duterque, 1975}; {22:Happle and Lenz, 1977}).\n\nReports from the International Research Symposium on Goltz Syndrome in 2013 were published in the American Journal of Medical Genetics; the authors and subjects of the reports are listed in an introduction by {8:Fete and Fete (2016)}." +305620,"Frontometaphyseal dysplasia-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; {311300}), otopalatodigital syndrome-2 (OPD2; {304120}), and Melnick-Needles syndrome (MNS; {309350}), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD1 is characterized by a generalized skeletal dysplasia, deafness, and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by {17:Robertson, 2005}). {22:Verloes et al. (2000)} suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'\n\n<Subhead> Genetic Heterogeneity of Frontometaphyseal Dysplasia\n\nFrontometaphyseal dysplasia-2 (FMD2; {617137}) is caused by mutation in the MAP3K7 gene ({602614}) on chromosome 6q15." +305690,"{1:Van Voorhis et al. (1992)} described a 33-year-old woman who gave birth to 2 liveborn male offspring with genitourinary tract anomalies and other malformations leading to death in the neonatal period. A nephew of the woman was born with genitourinary tract anomalies and the mother was found to have a large uterine septum. Because of the possibility of an X-linked disorder, donor oocytes were used to achieve a pregnancy, with successful delivery of a normal infant. They used the same procedure of oocyte donation in a known carrier of a mitochondrial myopathy with cytochrome C oxidase deficiency (which they erroneously, I believe, referred to as 'an X-linked recessive lethal disease')." +305700,"In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules ({4:Sargent et al., 1999}).\n\nThere is evidence that Sertoli cell-only syndrome can be caused by interstitial deletions in the 'azoospermia factor' (AZF) region on the long arm of the Y chromosome (SPGFY1; {400042}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +305800,"{2:Habib et al. (1973)} recognized 2 morphologic classes for the glomerular changes seen in patients with mesangiocapillary (membranoproliferative) glomerulonephritis (MPGN). Type I is characterized by double contour appearance of the capillary walls due to mesangial cell interposition, with nonargyrophilic subendothelial deposits which are finely granular on electron microscopy. Type II is characterized by linear dense deposits within the basement membrane and only rare double contours. These 2 types appear to be distinct with no conversion of one type to another on serial biopsy. {4:Strife et al. (1977)} described a third variety in which there are not only subendothelial deposits but also numerous subepithelial and intramembranous deposits, associated with replication of the lamina densa and frequently disruption of the whole basement membrane." +305920,"{1:Williams et al. (1984)} reported the case of a 6-year-old boy with a history of seizures, progressive neurologic deterioration, and proteinuria. Physical examination showed mildly coarse facies, generalized hypotonia with muscle wasting, and optic atrophy. No organomegaly was found. The patient died of renal failure at age 8. X-linked recessive inheritance was suggested by the history of a similar disorder in a maternal uncle who had seizures at 9 months of age, followed by deterioration of speech and vision. He had had hypertension, nephrotic syndrome, optic atrophy, hyporeflexia, and severe retardation when he died in renal failure at 7 years of age. Electron microscopy of conjunctival and renal biopsies showed cytoplasmic storage and abnormal lysosomes. A compound identified as glutamyl ribose-5-phosphate was purified from the brain and kidney. This compound is the linkage group in ADP-ribosylation of proteins, a posttranslational modification which is an important regulatory process in gene expression and DNA repair. {1:Williams et al. (1984)} classified the disorder as a glycoproteinosis; classification as a lysosomal storage disease under stringent criteria requires identification of deficiency of a lysosomal enzyme. Deficiency of ADP-ribose protein hydrolase was postulated." +306000,"Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB; {172490}), gamma (PHKG2; {172471}), and delta (CALM1; {114180}). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B ({261750}), and GSD9C ({613027}), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive.\n\nGSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes ({22:Keating et al., 1985}; {10:Hendrickx et al., 1994}; {1:Beauchamp et al., 2007}).\n\nSee also X-linked muscle PHK deficiency (GSD9D; {300559}), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1; {311870})." +306300,"{1:Sturgill and Brown (1966)} described 4 brothers who died in the first 24 hours of life of congenital cerebral granulomas. The lesions suggested toxoplasmosis or salivary gland virus disease. However, no organisms or inclusions were demonstrated. Two sisters were healthy. Consanguinity was not commented upon." +306400,"X-linked chronic granulomatous disease (CGDX) is a primary immunodeficiency characterized by onset of symptoms in the first months or years of life. Patients present with recurrent infections, lymphadenopathy, inflammatory bowel disease, granulomatous colitis, fever, skin infections, osteomyelitis, and/or abscesses. Infectious organisms usually include Staphylococcus aureus, Burkholderia cepacia, Serrata, Salmonella, mycobacteria, and fungi. The disorder results from impaired function of the phagocytic NADPH oxidase complex, which generates the microbiocidal respiratory burst. Laboratory studies using the DHR assay show impaired phagocytic production of reactive oxygen species in response to PMA stimulation (reviews by {32:Dinauer et al., 2001} and {57:Johnston, 2001}; summary by {102:Song et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Chronic Granulomatous Disease\n\nChronic granulomatous disease can be caused by mutation in several genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also CGD1 ({233700}), caused by mutation in the NCF1 gene ({608512}) on chromosome 7q11; CGD2 ({233710}), caused by mutation in the NCF2 gene ({608515}) on chromosome 1q25; CGD3 ({613960}), caused by mutation in the NCF4 gene ({601488}) on chromosome 22q13; CGD4 ({233690}), caused by mutation in the CYBA gene ({608508}) on chromosome 16q24; and CGD5 ({618935}) caused by mutation in the CYBC1 gene ({618334}) on chromosome 17q25.\n\nA similar syndrome, termed neutrophil immunodeficiency syndrome ({608203}), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 ({602049}).\n\n{90:Roos et al. (2021)} provided a review of autosomal forms of chronic granulomatous disease." +306700,"Hemophilia A (HEMA) is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease ({193400}), in which mucosal bleeding predominates (review by {84:Mannucci and Tuddenham, 2001})." +306800,"{1:Egeberg (1965)} studied a Norwegian family in which at least 7 persons had a disorder combining features of hemophilia A and of Von Willebrand disease. The affected males showed mild to moderately severe bleeding tendency, and the females a less severe tendency. Factor VIII was decreased, more in males than in females. Bleeding time was prolonged and capillary fragility demonstrated in both sexes. The pedigree was compatible with X-linked transmission." +306900,"Hemophilia B due to factor IX deficiency is phenotypically indistinguishable from hemophilia A ({306700}), which results from deficiency of coagulation factor VIII (F8; {300841}). The classic laboratory findings in hemophilia B include a prolonged activated partial thromboplastin time (aPTT) and a normal prothrombin time (PT) ({77:Lefkowitz et al., 1993}).\n\nEarly studies made a distinction between cross-reactive-material (CRM)-negative and CRM-positive hemophilia B mutants. This classification referred to detection of the F9 antigen in plasma, even in the presence of decreased F9 activity. Detection of the antigen indicated the presence of a dysfunctional F9 protein. {103:Roberts et al. (1968)} found that about 90% of patients with hemophilia B were CRM-negative, whereas about 10% were CRM-positive. However, {7:Bertina and Veltkamp (1978)} found that a rather large proportion of the hemophilia B patients could be characterized as hemophilia B CRM+. They identified 14 cases of hemophilia B CRM+ from 11 families among a group of 33 patients. After immunologic and activity comparisons, they found at least 7 different factor IX variants. {7:Bertina and Veltkamp (1978)} noted the high heterogeneity within this group. In an editorial on variants of vitamin K-dependent coagulation factors, {6:Bertina et al. (1979)} stated that 9 defective variants of factor II, 5 variants of factor X, and many variants (about 180 pedigrees) of factor IX had been identified. At least one variant of factor VII (Padua) was also known." +306930,{1:Luzzatto et al. (1979)} concluded that an X-chromosomal gene affects growth of hemopoietic cells. The conclusion was based on study of a Nigerian family segregating for a G6PD variant called Ilesha. In heterozygous females one or the other allele was almost exclusively expressed. The data were consistent with random inactivation of one X chromosome followed by selection for one of the two resulting cell types on the basis of an unlinked X-borne gene that affects the rate of proliferation of hemopoietic cells. Deviation from 1:1 ratio of cell types in females heterozygous for X-linked mutations has been observed for HGPRT (where almost all erythroid cells are wildtype). X-chromosome structural aberrations also deviate from the 1:1 ratio; no chromosome abnormality was found in the family of {1:Luzzatto et al. (1979)}. +306950,"{2:Lilly et al. (1974)} described a family in which 2 brothers and their maternal uncle had congenital, anterior diaphragmatic hernia. Two of the 3 died in infancy of complications. {1:Crane (1979)} favored multifactorial inheritance with high male:female sex ratio. Twelve multiplex families were analyzed." +306955,"<Subhead> Heterotaxy\n\nHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another ({12:Srivastava, 1997}). Heterotaxy is a clinically and genetically heterogeneous disorder.\n\n<Subhead> Multiple Types of Congenital Heart Defects\n\nCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by {13:van de Meerakker et al., 2011}).\n\n<Subhead> Reviews\n\n{10:Obler et al. (2008)} reviewed published cases of double-outlet right ventricle and discussed etiology and associations.\n\n<Subhead> Genetic Heterogeneity of Visceral Heterotaxy\n\nSee also HTX2 ({605376}), caused by mutation in the CFC1 gene ({605194}) on chromosome 2q21; HTX3 ({606325}), which maps to chromosome 6q21; HTX4 ({613751}), caused by mutation in the ACVR2B gene ({602730}) on chromosome 3p22; HTX5 ({270100}), caused by mutation in the NODAL gene ({601265}) on chromosome 10q22; HTX6 ({614779}), caused by mutation in the CCDC11 gene ({614759}) on chromosome 18q21; HTX7 ({616749}), caused by mutation in the MMP21 gene ({608416}) on chromosome 10q26; HTX8 ({617205}), caused by mutation in the PKD1L1 gene ({609721}) on chromosome 7p12; HTX9 ({618948}), caused by mutation in the MNS1 gene ({610766}) on chromosome 15q21; HTX10 ({619607}), caused by mutation in the CFAP52 gene ({609804}) on chromosome 17p13; HTX11 ({619608}), caused by mutation in the CFAP45 gene ({605152}) on chromosome 1q23; and HTX12 ({619702}), caused by mutation in the CIROP gene ({619703}) on chromosome 14q11.\n\n<Subhead> Genetic Heterogeneity of Multiple Types of Congenital Heart Defects\n\nAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 ({614980}) is caused by mutation in the TAB2 gene ({605101}) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; {614954}) has been mapped to chromosome 9q31. CHTD4 ({615779}) is caused by mutation in the NR2F2 gene ({107773}) on chromosome 15q26. CHTD5 ({617912}) is caused by mutation in the GATA5 gene ({611496}) on chromosome 20q13. CHTD6 ({613854}) is caused by mutation in the GDF1 gene ({602880}) on chromosome 19p13. CHTD7 ({618780}) is caused by mutation in the FLT4 gene ({136352}) on chromosome 5q35." +306980,{1:Reynolds et al. (1983)} presented a family in which 2 brothers and 2 of their maternal uncles had Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes. Obligate heterozygotes showed no abnormality. The authors concluded that the pedigree was 'consistent with X-linked recessive inheritance but autosomal dominant with incomplete penetrance in females or multifactorial causation could not be ruled out.' +306990,"{2:Morse et al. (1987)} reported the prenatal diagnosis of a characteristic abnormality in 2 fetuses with congenital contractures, markedly decreased fetal movement, and microcephaly due to severe holoprosencephaly. The knees were in extension. Both were male; the parents were normal and not related. The disorder resembled the Neu-Laxova syndrome ({256520}) in intrauterine growth retardation, multiple joint contractures, severe microcephaly, and recurrence in families. However, the lack of hyperkeratosis or ichthyosis and the resulting characteristic facial appearance, the lack of distal extremity swelling, and the presence of holoprosencephaly distinguished the disorder from the Neu-Laxova syndrome. The validity of the syndrome and the probable X-linked recessive inheritance suggested by {2:Morse et al. (1987)} were indicated by the report of {1:Hockey et al. (1988)}: single cases in each of 3 sibships connected through females were affected with what appeared to be precisely the same disorder." +307000,"The X-linked recessive form of congenital hydrocephalus (HSAS) is the most common of the inherited forms of hydrocephalus. The phenotype consists of enlarged cerebral ventricles and mental retardation, and often includes spastic paraparesis and adducted thumbs. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference ({24:Rosenthal et al., 1992}).\n\nSee HYC1 ({236600}) for a discussion of nonsyndromic autosomal recessive forms of hydrocephalus." +307030,"{3:Francke et al. (1987)} noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.\n\nThe infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome ({300679}) with congenital adrenal hypoplasia ({300200}) and/or Duchenne muscular dystrophy (DMD; {310200}), whereas the juvenile and adult forms have isolated GK deficiency ({17:Walker et al., 1996})." +307200,"IGHD3 is characterized by agammaglobulinemia and markedly reduced numbers of B cells, short stature, delayed bone age, and good response to treatment with growth hormone (summary by {1:Conley et al., 1991}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of IGHD, see {262400}." +307500,"{1:Sohval and Soffer (1953)} described 2 brothers who were identically affected with mental retardation, multiple skeletal anomalies, and hypogonadism. The testicular histopathology was distinctive. All the seminiferous tubules were involved by one of two distinct processes: true germinal aplasia or complete fibrosis, with no gradations between them. Both brothers had fasting hyperglycemia and glucose intolerance. Skeletal anomalies were restricted to the cervical spine and superior ribs." +307800,"X-linked dominant hypophosphatemic rickets, although variable in its expressivity, is characterized by rickets with bone deformities, short stature, dental anomalies, and at the biologic level, hypophosphatemia with low renal phosphate reabsorption, normal serum calcium level with hypocalciuria, normal or low serum level of vitamin D (1,25(OH)2D3, or calcitriol), normal serum level of PTH, and increased activity of serum alkaline phosphatases (summary by {28:Gaucher et al., 2009})." +307830,"Probenecid and pyrazinamide are the drugs most widely used in the evaluation of the renal handling of urate. By application of these drugs, three types of tubular defects responsible for renal hypouricemia have been identified ({1:De Vries and Sperling, 1979}). They include presecretory, postsecretory, and combined urate reabsorption in the kidney (see {220150}). A fourth type of renal hypouricemia was described by {5:Shichiri et al. (1982)}, {2:Dumont and Decaux (1983)}, and {4:Sanz et al. (1983)}. In this type of hypouricemia, responses of renal urate clearance to probenecid or pyrazinamide are normal, sometimes even exaggerated, and the hypouricemia appears to be due to tubular hypersecretion. {3:Nakajima et al. (1987)} described the familial occurrence of this form. Two brothers had hypouricemia and their mother had serum urate levels in the low normal range. Data were not provided on the father. It is noteworthy that the proband was a 36-year-old carpenter with eunuchoidism and a 48,XXYY karyotype. His brother and mother had normal karyotypes." +308050,"CHILD syndrome is an acronym for an X-linked dominant disorder characterized by congenital hemidysplasia with ichythyosiform erythrodema and limb defects. The mutations are lethal in hemizygous males ({6:Happle et al., 1980}).\n\nCK syndrome ({300831}), an X-linked recessive mental retardation syndrome, is an allelic disorder with a less severe phenotype." +308100,"X-linked ichthyosis is clinically characterized by widespread, dark brown, polygonal scales and generalized dryness. Cutaneous manifestations are present soon after birth and usually do not improve with age. The histopathology of XLI typically shows compact hyperkeratosis and slight acanthosis with a normal granular layer (summary by {90:Takeichi and Akiyama, 2016}).\n\nX-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition ({2:Alperin and Shapiro, 1997}). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity.\n\n{74:Schnyder (1970)} gave a useful classification of the inherited ichthyoses.\n\n{41:Hernandez-Martin et al. (1999)} provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients.\n\n{90:Takeichi and Akiyama (2016)} reviewed inherited nonsyndromic forms of ichthyosis." +308200,"In the apparently unique family reported by {3:Lynch et al. (1960)}, 5 males in 3 generations showed both secondary hypogonadism (associated with low titers of pituitary gonadotropic hormones) and congenital ichthyosis. The authors suggested that close linkage may be responsible for the occurrence of hypogonadism with ichthyosis, a well-known X-linked trait. However, ichthyosis and hypogonadism is listed as a separate mutation since linkage can only be postulated. If indeed the 2 traits are due to 2 linked genes, one can say with 95% confidence that the recombination value is not greater than 20%. The disorder was transmitted by 6 females in whom there was opportunity for crossover. The affected males do not reproduce. (In earlier editions of these catalogs, ichthyosis with male hypogonadism was listed as a distinct X-linked recessive, single gene disorder. With the identification of close linkage of Kallmann syndrome ({308700}) and X-linked ichthyosis ({308100}), and the description of deletions leading to the coexistence of these 2 disorders, it becomes a distinct possibility that the affected males in the family reported by {3:Lynch et al. (1960)} suffered from a 'contiguous gene syndrome.') In a well-studied Mexican-American kindred with many affected persons, {5:Perrin et al. (1976)} reported that anosmia is an additional feature (see {308700}) and that linkage with Xg is clearly excluded. Linkage with new markers should be examined in this family: is this family distinct from the families with deletion causing Kallmann syndrome and ichthyosis? {2:Dodinval et al. (1981)} described 2 affected brothers.\n\nRUD syndrome is a neurocutaneous disorder characterized by epilepsy, mental retardation, infantilism, congenital ichthyosis, and retinitis pigmentosa. {6:Rud (1927)} described a 22-year-old Danish male with ichthyosis, hypogenitalism, epilepsy, polyneuritis, and hyperchromic macrocytic anemia. Two years later, {7:Rud (1929)} reported a second case in a 29-year-old female with partial gigantism and diabetes mellitus in addition to ichthyosis and hypogenitalism. {4:Munke et al. (1983)} found reports of 28 patients with Rud syndrome. The male:female ratio was 2:1, consistent with some of the cases being instances of an X-linked recessive disorder. {9:Wisniewski et al. (1985)} pointed to 2 reports of apparent X-linked inheritance. Their own observations concerned 2 brothers and their mother, who was thought to show heterozygous manifestation. The sons, aged 11 and 10 years, had severe visual impairment from bilateral maculopathy and the other features of RUDS. The mother had decreased visual acuity, increased pigment granularity of both maculae with decreased foveal reflexes, and exaggerated keratosis pilaris of both thighs. (The possibility that this family suffered from a 'contiguous gene syndrome' should be investigated with the search for cytogenetic or molecular genetic evidence of deletion in Xp.) {8:Traupe (1989)} provided a useful critical review of 'Rud syndrome.' Einar Rud, a Danish physician, recorded in his 1927 paper that the patient had 15 brothers and sisters and that he was the only one affected. He explicitly stated that the patient was mentally alert ('kvik,' in Danish). The polyneuropathy in the first patient reported by Rud had begun at age 18. The second patient had 'partial gigantism,' whereas his first patient had short stature. The woman was not mentally retarded and did not show any neurologic involvement. {7:Rud (1929)} stated that the mother, a brother, and a sister had ichthyosis vulgaris but did not suffer from any of the other symptoms. {8:Traupe (1989)} suggested that the designation 'Rud syndrome' be abandoned; from a review of reports he concluded that both the neurologic involvement and the ichthyosis remain ill defined." +308205,"The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by {13:Naiki et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of IFAP Syndrome\n\nIFAP syndrome-2 (IFAP2; {619016}) is caused by heterozygous mutation in the SREBF1 gene ({184756}) on chromosome 17p11." +308220,"{1:Parkman et al. (1984)} reported studies of 2 patients with primary T-lymphocyte immune abnormalities due to deficiency of a lymphocyte membrane glycoprotein with molecular weight 115,000 Daltons ({2:Remold-O'Donnell et al., 1984}). One patient was from a kindred with 7 affected males in 4 sibships connected through females. The affected persons were all dead by the time of the report, having suffered from severe viral, protozoan, and bacterial infections. The second patient, a male, was an isolated case. The patients showed some clinical and biochemical similarities with the Wiskott-Aldrich syndrome ({301000}) but important differences as well. In gpL-115 deficiency, no eczema or thrombocytopenia was observed and no abnormality of platelet surface glycoproteins or their in vitro aggregation. The autoradiographs of the lymphocytes in Wiskott-Aldrich syndrome were similar to those in this disorder, but in WAS glycoprotein-115 is abnormal in both platelets and lymphocytes ({2:Remold-O'Donnell et al., 1984}). These 2 patients and some WAS patients have reduced lymphocyte volume, seemingly related to gpL-115 deficiency. Splenectomy in WAS resulted in return of lymphocyte size to normal. Platelet size behaves similarly. Patient 1 of {1:Parkman et al. (1984)} showed circulating immature T-cells of a type usually found only in the thymus in adulthood. They suggested that immature T-cells may be a compensatory mechanism for increased in vivo destruction of the abnormal T-cells in a manner analogous to reticulocytes and nucleated red cells in the circulation in hereditary spherocytosis and other intrinsic red cell membrane abnormalities associated with increased in vivo destruction. Bone marrow transplantation was performed in the second case. This may be an addition to the list of X-linked immunodeficiencies (see {300400}, {301000}, {307200}, {308230}, and {308240})." +308230,"HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by {28:Levy et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Immunodeficiency with Hyper-IgM\n\nOther forms of HIGM include HIGM2 ({605258}), which results from mutation in the AICDA gene ({605257}), HIGM3 ({606843}), which results from mutation in the CD40 gene ({109535}), and HIGM5 ({608106}), which results from mutation in the UNG gene ({191525}). See also HIGM4 ({608184})." +308240,"X-linked lymphoproliferative syndrome, or Duncan disease, is a primary immunodeficiency characterized by severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis ({24:Purtilo et al., 1977}; {29:Purtilo, 1981}; {25:Purtilo and Grierson, 1991}; {5:Coffey et al., 1998}; {3:Booth et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of X-linked/Autosomal Lymphoproliferative Syndrome\n\nSee XLP2 ({300635}), caused by mutation in the XIAP gene ({300079}), also on Xq25; LPFS1 ({613011}), caused by mutation in the ITK gene ({186973}) on chromosome 5q33; LPFS2 ({615122}), caused by mutation in the CD27 gene ({186711}) on chromosome 12p13; and LPFS3 ({618261}), caused by mutation in the CD70 gene (TNFSF7; {602840}) on chromosome 19p13." +308250,"{3:Grundbacher (1972)} suggested that genes on the X chromosome determine the quantity of immunoglobulin M, because the concentration in serum is one-third higher in females than in males and intrafamilial correlations are higher between sons and mothers than between sons and fathers. Even higher IgM was observed in XXX females ({6:Rhodes et al., 1969}) and XO females had levels like normal males. {1:Adinolfi et al. (1978)} extended the observations in man and mouse. {7:Washburn et al. (1965)} concluded that bacterial infections are a more significant problem in males than in females. {2:Escobar et al. (1979)} measured serum concentrations of immunoglobulins G, A and M in 93 pairs of monozygotic twins, their spouses and their offspring. The hypothesis that the human X chromosome carries genes that control the level of IgM was tested with three different approaches. The results indicate that environmental factors are primarily responsible for the observed variation in the levels of IgG and IgA, whereas variance of IgM was mostly the result of X-linked gene effects. IgM deficiency as an X-linked trait leading to predisposition to meningococcal meningitis was suggested by {5:Hobbs et al. (1967)} and {4:Hobbs (1986)}." +308290,"{1:Naumova and Sapienza (1994)} reported epidemiologic and genetic analyses of sporadic and familial retinoblastoma ({180200}), indicating that an X-linked gene is involved in the genesis of a significant number of new bilateral cases of the disease. They pointed out that although individuals with bilateral sporadic disease are commonly referred to as 'new germline mutations,' this designation refers to the fact that these individuals frequently have affected offspring (and thus carry the mutation in their germline) and should not be construed as proof that the RB1 ({614041}) mutation occurred in the germline of one of their parents. The activity of the postulated X-linked gene was thought to result in a sex-ratio distortion in favor of males among patients with bilateral sporadic disease. Among the offspring of these males, both sex-ratio distortion in favor of males and transmission-ratio distortion in favor of affecteds were observed. {1:Naumova and Sapienza (1994)} proposed that these phenomena are the result of a defective imprinting gene on the X chromosome in males with bilateral sporadic disease. Because of the defective imprinting gene, they are unable to erase the maternal imprint and/or reestablish a paternal imprint on the portion of the genome inherited from their mothers. Among their offspring, female embryos will not survive because the affected father transmits his X chromosome with an unchanged (female-derived) genome imprint received from his mother. Half of these females are expected to receive also the grandmaternal (and incorrectly imprinted) chromosome 13q bearing the wildtype RB1 allele. In contrast, all surviving embryos must receive a properly imprinted set of chromosomes from the affected male. Only chromosomes inherited through the paternal line of the affected male will carry a proper (male-derived) imprint. The surviving individuals will thus carry the grandpaternal Y chromosome (and therefore be male) and will also carry the relevant chromosome 13q allele bearing the grandpaternally imprinted (but also mutant) RB1 allele. The model illustrated in Figure 1 of {1:Naumova and Sapienza (1994)} made the following predictions: (1) a gene involved in erasure and/or establishment of a genome imprint lies on the human X chromosome; (2) an imprinted gene is genetically linked to RB1; and (3) in affected male offspring of bilateral sporadic males, regions of the genome for which a male imprint is required for viability will have been derived from the paternal grandfather rather than from the paternal grandmother." +308300,"Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males ({65:The International Incontinentia Pigmenti Consortium, 2000}). In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system. The prominent skin signs occur in 4 classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation, and dermal scarring. Cells expressing the mutated X chromosome are eliminated selectively around the time of birth, so females with IP exhibit extremely skewed X-inactivation.\n\nAlso see hypomelanosis of Ito ({300337}), which was formerly designated incontinentia pigmenti type I (IP1)." +308350,"Developmental and epileptic encephalopathy-1 (DEE1) is a severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Approximately 75% of DEE1 patients progress to tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG ({15:Kato et al., 2007}).\n\nDEE1 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; {300215}) to Proud syndrome ({300004}) to infantile spasms without brain malformations (DEE) to syndromic ({309510}) and nonsyndromic ({300419}) mental retardation. Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected ({14:Kato et al., 2004}; {25:Wallerstein et al., 2008}).\n\n<Subhead> Reviews\n\n{5:Deprez et al. (2009)} reviewed the genetics of epilepsy syndromes starting in the first year of life and included a diagnostic algorithm.\n\n<Subhead> Genetic Heterogeneity of Developmental and Epileptic Encephalopathy\n\nAlso see DEE2 ({300672}), caused by mutation in the CDKL5 gene ({300203}); DEE3 ({609304}), caused by mutation in the SLC25A22 gene ({609302}); DEE4 ({612164}), caused by mutation in the STXBP1 gene ({602926}); DEE5 ({613477}), caused by mutation in the SPTAN1 gene ({182810}); DEE6A ({607208}), also known as Dravet syndrome, caused by mutation in the SCN1A gene ({182389}); DEE6B ({619317}), also caused by mutation in the SCN1A gene; DEE7 ({613720}), caused by mutation in the KCNQ2 gene ({602235}); DEE8 ({300607}), caused by mutation in the ARHGEF9 gene ({300429}); DEE9 ({300088}), caused by mutation in the PCDH19 gene ({300460}); DEE10 ({613402}), caused by mutation in the PNKP gene ({605610}); DEE11 ({613721}), caused by mutation in the SCN2A gene ({182390}); DEE12 ({613722}), caused by mutation in the PLCB1 gene ({607120}); DEE13 ({614558}), caused by mutation in the SCN8A gene ({600702}); DEE14 ({614959}), caused by mutation in the KCNT1 gene ({608167}); DEE15 ({615006}), caused by mutation in the ST3GAL3 gene ({606494}); DEE16 ({615338}), caused by mutation in the TBC1D24 gene ({613577}); DEE17 ({615473}), caused by mutation in the GNAO1 gene ({139311}); DEE18 ({615476}), caused by mutation in the SZT2 gene ({615463}); DEE19 ({615744}), caused by mutation in the GABRA1 gene ({137160}); DEE20 ({300868}), caused by mutation in the PIGA gene ({311770}); DEE21 ({615833}), caused by mutation in the NECAP1 gene ({611623}); DEE22 ({300896}), caused by mutation in the SLC35A2 gene ({314375}); DEE23 ({615859}), caused by mutation in the DOCK7 gene ({615730}); DEE24 ({615871}), caused by mutation in the HCN1 gene ({602780}); DEE25 ({615905}), caused by mutation in the SLC13A5 gene ({608305}); DEE26 ({616056}), caused by mutation in the KCNB1 gene ({600397}); DEE27 ({616139}), caused by mutation in the GRIN2B gene ({138252}); DEE28 ({616211}), caused by mutation in the WWOX gene ({605131}); DEE29 ({616339}), caused by mutation in the AARS gene ({601065}); DEE30 ({616341}), caused by mutation in the SIK1 gene ({605705}); DEE31 ({616346}), caused by mutation in the DNM1 gene ({602377}); DEE32 ({616366}), caused by mutation in the KCNA2 gene ({176262}); DEE33 ({616409}), caused by mutation in the EEF1A2 gene ({602959}); DEE34 ({616645}), caused by mutation in the SLC12A5 gene ({606726}); DEE35 ({616647}), caused by mutation in the ITPA gene ({147520}); DEE36 ({300884}), caused by mutation in the ALG13 gene ({300776}); DEE37 ({616981}), caused by mutation in the FRRS1L gene ({604574}); DEE38 ({617020}), caused by mutation in the ARV1 gene ({611647}); DEE39 ({612949}), caused by mutation in the SLC25A12 gene ({603667}); DEE40 ({617065}), caused by mutation in the GUF1 gene ({617064}); DEE41 ({617105}), caused by mutation in the SLC1A2 gene ({600300}); DEE42 ({617106}), caused by mutation in the CACNA1A gene ({601011}); DEE43 ({617113}), caused by mutation in the GABRB3 gene ({137192}); DEE44 ({617132}), caused by mutation in the UBA5 gene ({610552}); DEE45 ({617153}), caused by mutation in the GABRB1 gene ({137190}); DEE46 ({617162}), caused by mutation in the GRIN2D gene ({602717}); DEE47 ({617166}), caused by mutation in the FGF12 gene ({601513}); DEE48 ({617276}), caused by mutation in the AP3B2 gene ({602166}); DEE49 ({617281}), caused by mutation in the DENND5A gene ({617278}); DEE50 ({616457}) caused by mutation in the CAD gene ({114010}); DEE51 ({617339}), caused by mutation in the MDH2 gene ({154100}); DEE52 ({617350}), caused by mutation in the SCN1B gene ({600235}); DEE53 ({617389}), caused by mutation in the SYNJ1 gene ({604297}); DEE54 ({617391}), caused by mutation in the HNRNPU gene ({602869}); DEE55 ({617599}), caused by mutation in the PIGP gene ({605938}); DEE56 ({617665}), caused by mutation in the YWHAG gene ({605356}); DEE57 ({617771}), caused by mutation in the KCNT2 gene ({610044}); DEE58 ({617830}), caused by mutation in the NTRK2 gene ({600456}); DEE59 ({617904}), caused by mutation in the GABBR2 gene ({607340}); DEE60 ({617929}), caused by mutation in the CNPY3 gene ({610774}); DEE61 ({617933}), caused by mutation in the ADAM22 gene ({603709}); DEE62 ({617938}), caused by mutation in the SCN3A gene ({182391}); DEE63 ({617976}), caused by mutation in the CPLX1 gene ({605032}); DEE64 ({618004}), caused by mutation in the RHOBTB2 gene ({607352}); DEE65 ({618008}), caused by mutation in the CYFIP2 gene ({606323}); DEE66 ({618067}), caused by mutation in the PACS2 gene ({610423}); DEE67 ({618141}), caused by mutation in the CUX2 gene ({610648}); DEE68 ({618201}), caused by mutation in the TRAK1 gene ({608112}); DEE69 ({618285}), caused by mutation in the CACNA1E gene ({601013}); DEE70 ({618298}) caused by mutation in the PHACTR1 gene ({608723}); DEE71 ({618328}), caused by mutation in the GLS gene ({138280}); DEE72 ({618374}), caused by mutation in the NEUROD2 gene ({601725}); DEE73 ({618379}), caused by mutation in the RNF13 gene ({609247}); DEE74 ({618396}), caused by mutation in the GABRG2 gene ({137164}); DEE75 ({618437}), caused by mutation in the PARS2 gene ({612036}); DEE76 ({618468}), caused by mutation in the ACTL6B gene ({612458}); DEE77 ({618548}), caused by mutation in the PIGQ gene ({605754}); DEE78 ({618557}), caused by mutation in the GABRA2 gene ({137140}); DEE79 ({618559}), caused by mutation in the GABRA5 gene ({137142}); DEE80 ({618580}), caused by mutation in the PIGB gene ({604122}); DEE81 ({618663}), caused by mutation in the DMXL2 gene ({612186}); DEE82 ({618721}), caused by mutation in the GOT2 gene ({138150}); DEE83 ({618744}), caused by mutation in the UGP2 gene ({191760}); DEE84 ({618792}), caused by mutation in the UGDH gene ({603370}); DEE85 ({301044}), caused by mutation in the SMC1A gene ({300040}); DEE86 ({618910}), caused by mutation in the DALRD3 gene ({618904}); DEE87 ({618916}), caused by mutation in the CDK19 gene ({614720}); DEE88 ({618959}), caused by mutation in the MDH1 gene ({152400}); DEE89 ({619124}), caused by mutation in the GAD1 gene ({605363}); DEE90 ({301058}), caused by mutation in the FGF13 gene ({300070}); DEE91 ({617711}), caused by mutation in the PPP3CA gene ({114105}); DEE92 ({617829}), caused by mutation in the GABRB2 gene ({600232}); DEE93 ({618012}), caused by mutation in the ATP6V1A gene ({607027}); DEE94 ({615369}), caused by mutation in the CHD2 gene ({602119}); DEE95 ({618143}), caused by mutation in the PIGS gene ({610271}); DEE96 ({619340}), caused by mutation in the NSF gene ({601633}); DEE97 ({619561}), caused by mutation in the iCELF2 gene ({602538}); DEE98 ({619605}), caused by mutation in the ATP1A2 gene ({182340}); DEE99 ({619606}), caused by mutation in the ATP1A3 gene ({182350}); DEE100 ({619777}), caused by mutation in the FBXO28 gene ({609100}); DEE101 ({619814}), caused by mutation in the GRIN1 gene ({138249}); DEE102 ({619881}), caused by mutation in the SLC38A3 gene ({604437}); and DEE103 ({619913}), caused by mutation in the KCNC2 gene ({176256}).\n\nThe phenotype is also observed in other genetic disorders, including GLUT1 deficiency syndrome ({606777}); glycine encephalopathy ({605899}); Aicardi-Goutieres syndrome ({225750}); and in males with MECP2 mutations ({300673}), among others.\n\nFor associations pending confirmation, see MOLECULAR GENETICS." +308500,"{1:Frank-Kamenetzki (1925)} described this as an apparently X-linked recessive disorder in 2 Russian kindreds. From the findings in young family members, the atrophy or hypoplasia of the iris seemed to be primary and glaucoma secondary. Makarow (cited by {2:Waardenburg et al., 1961}) probably described the same disorder, also in Russia. No other families are known." +308600,"{1:McElfresh (1962)} described a form of neonatal hyperbilirubinemia in 6 males of 2 generations in a pattern consistent with X-linked recessive inheritance. One affected member of the earlier generation was jaundiced with light stools for the first 5 months of life. He was 31 years of age and well, with 2 normal children, at the time of report." +308700,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {38:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'\n\nFor information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}." +308750,{1:Tuck et al. (1983)} described 2 brothers with this combination. A sister had minor manifestations of spastic paraplegia. +308800,"Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by {2:Castori et al., 2009}).\n\nAutosomal dominant inheritance has also been reported (KFSD; {612843}).\n\nThe term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair." +308830,"{1:Cantu et al. (1974)} described a kindred in which 3 brothers and 3 of their maternal uncles had generalized keratosis follicularis, severe growth retardation, and cerebral atrophy. Hair, eyebrows and eyelashes were almost completely absent. Death had occurred at a young age in 2 of the uncles. Microcephaly was present. Dwarfism was severe, congenital and proportionate." +308850,{4:Plott (1964)} described 3 brothers with permanent congenital laryngeal abductor paralysis and mental deficiency. A fourth male sib suspected of having been affected died perinatally. Dysgenesis of the nucleus ambiguus was considered likely. {5:Watters and Fitch (1973)} presented a pedigree which made X-linked recessive inheritance likely. Two brothers were affected together with a first cousin once removed connected through females. {2:Opitz (1977)} made the useful point that brain damage resulting from respiratory distress may dominate the picture so that X-linked mental retardation (see {309530}) may be suspected. {3:Opitz et al. (1978)} published 2 pedigrees collected by {1:Durkin (1974)} which showed typical X-linked recessive inheritance. +308905,"Leber optic atrophy, also known as Leber hereditary optic atrophy (LHON; {535000}), is characterized by bilateral, painless, subacute central vision loss in young adults resulting from primary degeneration of retinal ganglion cells (RGCs) accompanied by ascending optic atrophy (summary by {19:Yu et al., 2020}). Variation in mitochondrial DNA (mtDNA) contributes to the pathogenesis of the disease. Modifier of Leber optic atrophy (LOAM) exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by the LHON11778A mutation in the MTND4 gene ({516003.0001}) alone, due to the action of mutation in PRICKLE3 as a modifier of expression of the disease.\n\nFor a general description and discussion of genetic heterogeneity of Leber optic atrophy, see {535000}." +308950,"{2:Nyhan et al. (1978)} described a male patient with self-mutilation, mental retardation, choreoathetosis, spasticity and hyperuricemia, identical to the clinical picture of HGPRT deficiency ({308000}). Although HGPRT and purine salvage were normal, an abnormality in synthesis or catabolism of trinucleotides was suggested by an unusual accumulation of trinucleotides. {1:Nyhan (1989)} stated that since subsequent studies of cells from this patient failed to show consistent accumulation of trinucleotides, there is no real evidence of abnormality in purine metabolism. He reiterated that 'the phenotype was absolutely typical.'" +308960,{1:Li et al. (1979)} described a kindred in which 8 males died of acute leukemia or a potentially preleukemic blood disease. They suggested X-linked inheritance. +308990,"Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' ({11:Scheinman, 1998}; {3:Gambaro et al., 2004}). For a general discussion of Dent disease, see {300009}." +309000,"Lowe oculocerebrorenal syndrome (OCRL) is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, severely impaired intellectual development, and renal tubular dysfunction with slowly progressive renal failure. Other features include postnatal growth retardation independent of kidney function, areflexia, nontender joint swelling, subcutaneous nodules, and arthropathy, which can be observed in about 50% of adult patients (review by {4:Bokenkamp and Ludwig, 2016})." +309050,"An X-linked recessive inhibitor (XS) of the Lutheran blood group system ({111200}) has been reported.\n\nFor a discussion of Lutheran blood group phenotypes, see {247420}." +309100,"This is dystrophy of the macular area of the fundus oculi and is not to be confused with macular (i.e., spotty) dystrophy of the skin (e.g., {302000}). The pedigree reported by {2:Halbertsma (1928)} was consistent with X-linked inheritance except for an instance of apparent father-to-son transmission in the first generation. Colorblindness also was segregating in Halbertsma's family, but analysis in terms of linkage is impossible because in those males with macular dystrophy the retinal disease may have been responsible for the colorblindness. {1:Falls (1952)} studied a family of X-linked macular dystrophy with affected identical male twins. A cystic maculopathy may be the only finding in X-linked retinoschisis ({312700})." +309200,"The notion of an X-linked form of manic-depressive illness dates back to at least the 1930s when an excess of affected females and a deficiency of male-to-male transmission made this an attractive possibility. The paper by {23:Reich et al. (1969)}, reporting linkage to colorblindness (see {303800}) in 2 kindreds, was a landmark among reports of genetic studies of mental illness. {27:Winokur and Tanna (1969)} suggested X-linked dominant inheritance. Without reference to specific genetic hypothesis, {15:Mendlewicz et al. (1972)} reported that bipolar (manic-depressive) patients with a family history of similar illness responded better to lithium than those without affected relatives. {19:Mendlewicz and Rainer (1974)} concluded further that their data were consistent with X-linked dominant inheritance of manic-depressive illness, with linkage to colorblindness and to Xg loci. Since the latter two loci are far apart, indeed on different arms of the X chromosome, that conclusion on linkage is suspect. Bipolar and unipolar illnesses are distinct. In the bipolar condition, mania occurs sometime during the course of the affective illness. In the unipolar condition, only depressive episodes occur. The evidence for distinctness consists of (a) clinical data which show differences in length and number of episodes and age of onset, and (b) familial data which show high rate of psychosis, especially mania, in bipolar families. It is the bipolar families in which X-linked dominant inheritance has been suggested. {8:Cadoret and Winokur (1975)} reviewed the evidence. {17:Mendlewicz et al. (1980)} studied a large family of Persian Sephardic Jewish origin in which both manic-depressive psychosis and G6PD deficiency ({300908}) were segregating. A lod score of 4.32 was obtained for a recombination fraction slightly less than 0.05. (Autosomally transmitted genetic susceptibility has also been demonstrated; see {125480}.) {24:Risch et al. (1986)} reanalyzed 2 bodies of data, one from a family study of bipolar affective illness in New York ({19:Mendlewicz and Rainer, 1974}) and the other from a similar study in Bethesda ({12:Gershon et al., 1982}). They concluded that X-linkage exists, but that only a subgroup, possibly one-third, of 'bipolars' carry the X-linked gene. The X-linked subgroup may be associated with early onset (before 30 years of age). As they indicated, linkage studies with X-chromosome RFLP markers will be of great interest and possible usefulness. {4:Baron et al. (1987)} studied a new series of pedigrees and again found linkage of bipolar affective illness with colorblindness and G6PD ({305900}). The maximum lod score ranged from 7.52 (assuming homogeneity) to 9.17 (assuming heterogeneity). The probands originated from the patient population of the Jerusalem Mental Health Center. One pedigree was Polish-Ashkenazi and 4 were non-Ashkenazi originating from Iraq, Yemen, Turkey, and Iran. The Ashkenazi pedigree gave negative lod scores.\n\n{20:Mendlewicz et al. (1987)} found a maximum lod score of 3.10 at a recombination fraction of 0.11 for linkage between a manic-depressive locus and the factor IX locus at Xq27 as defined with a TaqI polymorphism. In studies of 7 informative kindreds segregating for manic-depressive illness in a pattern consistent with X-linked inheritance (no instance of father-to-son transmission), {9:Gejman et al. (1990)} found lod scores consistently less than -2 in a segment extending from about 10 cM centromeric to F9 to the region of the colorblindness genes.\n\n{13:Hebebrand (1992)} pointed out that formal genetic evidence for X-linked dominant inheritance is lacking. There appeared to be two main reasons for this: (1) segregation ratios among the offspring of affected males could not be evaluated adequately because most males had either not reproduced or their offspring were not considered informative by the investigators; and (2) the assumed hemizygous males had not been shown to be more severely affected than the heterozygous females. {14:Hebebrand and Hennighausen (1992)} quantitatively evaluated specific segregation patterns and clinical data in 8 positive X-linkage studies including those of {16,17,20:Mendlewicz et al. (1972, 1980, 1987)} and {4:Baron et al. (1987)}. They suspected that the pedigree structures observed resulted from ascertaining kindreds with autosomal or multifactorial inheritance, with exclusion of kindreds encompassing male-to-male transmission.\n\n{2:Baron et al. (1993)} extended and reevaluated pedigree data, including new individuals, diagnostic follow-up, and analysis with DNA markers, in 3 multigeneration Israeli kindreds. The results showed greatly diminished support for linkage to Xq28. The peak lod scores in 2 of the pedigrees had dropped several lod units to values clearly negative at the RCP--F8--G6PD gene cluster. On the other hand, positive lod scores (maximum = 2.09) at the same map location were sustained in another pedigree. None of the pedigrees showed linkage to more proximal markers, including the Xq28 locus DXS98. {21:Pauls (1993)} commented on the problems of linkage analysis in behavioral disorders and outlined methodologic strategies that probably will be necessary for success of molecular genetic studies. Both {5:Baron et al. (1994)} and {11:Gershon and Goldin (1994)} emphasized that despite the suggestion by {7:Bocchetta et al. (1994)} of linkage of bipolar disorder to Xq28, there is no consistent statistical evidence of linkage.\n\n{26:Thomson et al. (2005)} investigated the GPR50 gene ({300207}) as a candidate for mutation in bipolar affective disorder. They compared the allele frequencies of 3 GPR50 polymorphisms in case-control studies of 264 individuals with BPAD, 226 with major depressive disorder (MDD; see {608516}), 263 with schizophrenia (see {181500}), and 562 ethnically matched controls. A significant association was found between an insertion/deletion polymorphism (del502-505) in exon 2 and an increased risk of both BPAD (p = 0.0070) and MDD (p = 0.011). Analysis restricted to females showed an increase in the association with BPAD and MDD (p = 0.00023 and p = 0.0064, respectively). One SNP ({dbSNP rs13440581}) showed weak association with MDD in females (p = 0.0096), and another ({dbSNP rs2072621}) showed significant association with schizophrenia in females (p = 0.0014). {26:Thomson et al. (2005)} suggested that the deletion variant, or a variant in linkage disequilibrium with this polymorphism, is a sex-specific risk factor for susceptibility to BPAD and that other variants in the gene may be sex-specific risk factors in the development of schizophrenia." +309300,"Megalocornea is an inherited eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as 'anterior megalophthalmos,' since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. X-linked recessive inheritance is the most common pattern, accounting for the male preponderance of the disorder (summary by {8:Skuta et al., 1983}).\n\nMegalocornea sometimes occurs as part of the Marfan syndrome ({154700}).\n\n<Subhead> Genetic Heterogeneity of Megalocornea\n\nAutosomal recessive megalocornea has been reported ({249300})." +309350,"Melnick-Needles syndrome is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. These disorders, including frontometaphyseal dysplasia (FMD; {305620}), otopalatodigital syndrome-1 (OPD1; {311300}), and otopalatodigital syndrome-2 (OPD2; {304120}), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by {15:Robertson, 2005}). {25:Verloes et al. (2000)} suggested that these disorders constitute a single entity, which they called 'fronto-otopalatodigital osteodysplasia.'" +309400,Menkes disease (MNK) is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features result from the dysfunction of several copper-dependent enzymes. +309500,"Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. {21:Stevenson et al. (2005)} proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome." +309510,"Partington syndrome (PRTS) is an X-linked developmental disorder characterized by mental retardation and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly (LISX2; {300215}) to Proud syndrome ({300004}) to infantile spasms without brain malformations (see {308350}) to nonsyndromic mental retardation ({300419}). Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected ({5:Kato et al., 2004}; {10:Wallerstein et al., 2008})." +309541,"Methylmalonic aciduria and homocystinemia of the cblX type (MAHCX) is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, impaired intellectual development, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by {8:Yu et al., 2013})." +309548,"Intellectual developmental disorder-109 (MRX109) is characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by {3:Bensaid et al., 2009}). The disorder, which is associated with a fragile site on chromosome Xq28 (FRAXE), can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene ({16:Stettner et al., 2011})." +309580,"The term 'X-linked intellectual disability-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women ({1:Abidi et al., 2005}). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.\n\nX-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes." +309583,"Snyder-Robinson X-linked syndromic intellectual developmental disorder (MRXSSR) is an X-linked intellectual disability syndrome with characteristic features including facial asymmetry, marfanoid habitus, unsteady gait, thickened lower lip, nasal dysarthric speech, narrow or cleft palate, diminished muscle mass, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia (summary by {9:Zhang et al., 2013})." +309585,"Wilson-Turner syndrome (WTS) is an X-linked recessive neurologic disorder characterized by intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Females are unaffected ({5:Wilson et al., 1991})." +309590,"Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a neurodevelopmental disorder with a highly variable phenotype. Some affected families show X-linked recessive inheritance, with only males being affected and carrier females having no abnormal findings. In other affected families, males are severely affected, and female mutation carriers show milder cognitive abnormalities or dysmorphic features. In addition, there are female patients with de novo mutations who show the full phenotype, despite skewed X-chromosome inactivation. Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by {8:Moortgat et al., 2018})." +309640,{1:Davis et al. (1981)} reported a family in which 9 men in 3 generations presented with a slowly progressive spastic quadriparesis and varying degrees of psychomotor retardation. Both features of the syndrome were evident from early in life. None of the affected males had children. None of the carrier females showed abnormalities. The authors found no report of the same disorder. +309800,"Syndromic microphthalmia-1 (MCOPS1) is an X-linked disorder characterized by unilateral or bilateral microphthalmia or anophthalmia. The most common extraocular features are impaired intellectual development, large and dysplastic ears with skin tags, high-arched or cleft palate, dental anomalies, urogenital anomalies, and skeletal manifestations including lordosis or scoliosis, clinodactyly, syndactyly, brachydactyly, and abnormal thumbs. There is considerable variation in severity among reported families ({17:Slavotinek et al., 2005}).\n\n<Subhead> Genetic Heterogeneity\n\nOther forms of syndromic microphthalmia include MCOPS2 ({300166}), caused by the BCOR gene ({300485}) on chromosome Xp11; MCOPS3 ({206900}), caused by mutation in the SOX2 gene ({184429}) on chromosome 3q26; MCOPS5 ({610125}), caused by mutation in the OTX2 gene ({600037}) on chromosome 14q22; MCOPS6 ({607932}), caused by mutation in the BMP4 gene ({112262}) on chromosome 14q22; MCOPS7 ({309801}), caused by mutation in the HCCS gene ({300056}) on chromosome Xp22; MCOPS9 ({601186}), caused by mutation in the STRA6 gene ({610745}) on chromosome 15q24; MCOPS11 ({614402}), caused by mutation in the VAX1 gene ({604294}) on chromosome 10q25; MCOPS12 ({615524}), caused by mutation in the RARB gene ({180220}) on chromosome 3p24; MCOPS13 ({300915}), caused by mutation in the HMGB3 gene ({300193}) on chromosome Xq28; MCOPS14 ({615877}), caused by mutation in the MAB21L2 gene ({604357}) on chromosome 4q31; and MCOPS15 ({615145}), caused by mutation in the TENM3 gene ({610083}) on chromosome 4q.\n\nA form of syndromic microphthalmia also maps to chromosome 6q21 (MCOPS8; {601349}). A form of microphthalmia associated with progressive brain atrophy has been reported (MCOPS10; {611222}).\n\nA form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1.\n\n{19:Williamson and FitzPatrick (2014)} reviewed genes associated with microphthalmia, anophthalmia, and/or coloboma phenotypes. They noted that when exon sequencing is combined with detection of gene deletions via aCGH and high-resolution analysis of intragenic microdeletions and microduplications, approximately 75% of cases of bilateral anophthalmia or severe microphthalmia are found to carry heterozygous mutations in the SOX2 ({184429}) or OTX2 ({600037}) genes, or biallelic mutations in the STRA6 gene ({610745}) (see also MCOPS5, {610125} and MCOPS9, {601186})." +309801,"The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder characterized by unilateral or bilateral microphthalmia and linear skin defects--which are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas--in affected females and in utero lethality for males ({23:Wimplinger et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Linear Skin Defects with Multiple Congenital Anomalies\n\nAlso see LSDMCA2 ({300887}), caused by mutation in the COX7B gene ({300885}) on Xq21, and LSDMCA3 ({300952}), caused by mutation in the NDUFB11 gene ({300403}) on Xp11.3." +309900,"Mucopolysaccharidosis II (MPS2) is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine ({55:McKusick, 1972}; {101:Wraith et al., 2008})." +309950,"{1:Becker (1972)} suggested that the slowly progressive limb-girdle form of muscular dystrophy limited to females, as reported by {2:Henson et al. (1967)}, may be X-linked dominant lethal in hemizygous males. Eight females in 4 sibships in 2 generations of the family were affected. {2:Henson et al. (1967)} favored autosomal dominant inheritance with female influence (for which reason this entity is also listed as {609200}). {3:Heyck and Laudahn (1969)} described what appears to be the same myopathy in 2 sisters, their mother and their grandmother." +310000,"{1:Mabry et al. (1965)} described a kindred with 9 males affected by a late-onset form of muscular dystrophy. These authors thought it to be different from the types of Duchenne, Becker and Dreifuss. They suggested that it differed from the Becker type, which it resembled most closely, by earlier onset (about puberty) and some histologic features." +310095,"{1:Ji et al. (1990)} described a new type of X-linked muscular dystrophy in a kindred with 7 affected males in 5 sibships connected through carrier females and all descendant from a possibly affected male deceased at the time of the study. The disorder affected the muscles of the shoulder girdle and back but not of the calves or face. The oldest affected male observed by {1:Ji et al. (1990)} was 37 years old. A problem was noted at the age of 12 years. The youngest affected male was 7 years old and showed only winging of both scapulas and elevated creatine kinase. Elevation of creatine kinase was a consistent feature. Calf hypertrophy was absent as was also flexion contractures of the elbows, shortening of the Achilles tendons, and contractures of the posterior cervical muscles. Furthermore there was no arrhythmia or other evidence of myocardial involvement. Other forms of X-linked muscular dystrophy include, of course, Duchenne/Becker muscular dystrophy ({310200}), Emery-Dreifuss muscular dystrophy ({310300}), myopathy with excessive autophagy ({310440}), and X-linked myotubular myopathy ({310400}). See also the familial form of myopathy with clinical expression limited to the heart ({309930})." +310200,"Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy (BMD; {300376}). Mapping and molecular genetic studies showed that both are the result of mutations in the huge gene that encodes dystrophin, also symbolized DMD. Approximately two-thirds of the mutations in both forms are deletions of one or many exons in the dystrophin gene. Although there is no clear correlation found between the extent of the deletion and the severity of the disorder, DMD deletions usually result in frameshift. {21:Boland et al. (1996)} studied a retrospective cohort of 33 male patients born between 1953 and 1983. The mean age at DMD diagnosis was 4.6 years; wheelchair dependency had a median age of 10 years; cardiac muscle failure developed in 15% of patients with a median age of 21.5 years; smooth muscle dysfunction in the digestive or urinary tract occurred in 21% and 6% of the patients, respectively, at a median age of 15 years. In this cohort, death occurred at a median age of 17 years. The authors commented that the diagnosis of DMD is being made at an earlier age but survival has not changed." +310300,"Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form ({300376}).\n\n<Subhead> Genetic Heterogeneity of Emery-Dreifuss Muscular Dystrophy\n\nAutosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2; {181350}), is caused by mutation in the lamin A/C gene (LMNA; {150330}); autosomal recessive EDMD3 ({616516}) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 ({612998}), caused by mutation in the SYNE1 gene ({608441}), EDMD5 ({612999}), caused by mutation in the SYNE2 gene ({608442}), and EDMD7 ({614302}), caused by mutation in the TMEM43 gene ({612048}). A second X-linked form (EDMD6; see {300696}) is caused by mutation in the FHL1 gene ({300163})." +310350,"Four males with the same mother and 2 different fathers showed leukopenia and 'partial' Pelger-Huet anomaly (pseudo-Pelger anomaly) of the neutrophils as well as clinical and cytologic evidence of involvement of the lymphatic system ({1:Heyne, 1976}). The mother, clinically normal, showed Pelger-Huet-like changes in neutrophils. At least 1 of the fathers was hematologically normal. Severe varicella and generalized vaccinia, as well as severe bacterial infections, occurred. {1:Heyne (1976)} suggested X-linked inheritance. Other X-linked conditions, including Swiss type agammaglobulinemia ({300400}) and reticuloendotheliosis ({312500}), share some features with this disorder, but it is probably a separate entity." +310440,"X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by {9:Ramachandran et al., 2013}; {3:Kurashige et al., 2013}, and {10:Ruggieri et al., 2015}).\n\nDanon disease ({300257}), caused by mutation in the LAMP2 gene ({309060}) on chromosome Xq24, is a distinct disorder with similar pathologic features." +310460,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {2:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of myopia, see {160700}." +310465,"{3:Hess et al. (1974)} described what at first appeared to be a relatively nondescript mental retardation syndrome in 2 brothers. Features included visual impairment, deafness, laterally overlapping upper eyelids, large corneas, abnormal auricles, cryptorchidism, hypospadias and spasticity. It was designated by the initial of the surname. At the time of the report, 1 of the brothers had died at the age of 5.5 years of lymphoblastic leukemia with a mediastinal mass. The features of the syndrome and its possible genetics were expanded by the follow-up given by {2:Hess et al. (1987)}. The mother of the propositi, a woman who had none of the manifestations of the syndrome, died at age 37, reportedly of leukemia. The second propositus also died of lymphoblastic leukemia with a mediastinal mass and leukemic infiltration of tissues in a pattern similar to that seen in his brother. {2:Hess et al. (1987)} demonstrated increased chromosome breakage in the affected brothers and in their unaffected mother. {2:Hess et al. (1987)} suggested that the N syndrome is X-linked recessive. {1:Floy et al. (1990)} found that bleomycin, which is known to break double-stranded DNA, produced increased chromosome breakage in normal control, Fanconi anemia, and N syndrome fibroblasts. When aphidicolin was used to inhibit repair mediated by DNA polymerase alpha ({312040}), both normal control and Fanconi anemia fibroblasts showed significantly more chromosome breakage than was produced by bleomycin alone, but there was no increase in the amount of breakage seen in the N syndrome fibroblasts over that seen with bleomycin alone. The results suggested to {1:Floy et al. (1990)} that a mutation in DNA polymerase alpha is responsible for this syndrome." +310468,"X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' ({6:Scheinman, 1998}; {3:Gambaro et al., 2004}). For a general discussion of Dent disease, see {300009}." +310470,"{1:Jestico et al. (1985)} described 2 brothers and 3 of their maternal uncles who developed neuropathic deformities and ulceration of the feet in the first and second decades of life with slow progression over many years. In this form of hereditary sensory and autonomic neuropathy, there was minimal tendon reflex impairment, cutaneous sensory impairment was restricted to the feet, and there was no autonomic dysfunction. The only neurophysiologic abnormality was reduced or absent sural nerve sensory action potentials. Sural nerve biopsies in 2 affected persons showed loss of myelinated fibers, particularly those of small diameter, with a normal number of unmyelinated fibers." +310490,"X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ataxia (CMTX4) is a mitochondrial disorder manifest as progressive neurologic dysfunction with highly variable features. The age at onset ranges from infancy to young adulthood, and patients can present with different features, including hearing loss, delayed motor development, or difficulty walking due to peripheral neuropathy and/or cerebellar ataxia. Most patients develop all features, including a progressive sensorimotor axonal neuropathy and deafness due to auditory neuropathy. Additional more variable features can include cognitive impairment, cerebellar atrophy on brain imaging, cerebellar signs, such as dysarthria, abnormal extraocular movements, tremor, and dysmetria, as well as spasticity. There is significant intrafamilial variability: the variable features are consistent with mitochondrial dysfunction. Prolonged treatment with riboflavin may result in some mild improvement in the ataxia (summary by {8:Rinaldi et al., 2012}, {6:Heimer et al., 2018}, {2:Bogdanova-Mihaylova et al., 2019})." +310500,"Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of nonprogressive retinal disorders that can be characterized by impaired night vision, decreased visual acuity, nystagmus, myopia, and strabismus. CSNB can be classified into 2 groups based on electroretinography (ERG) findings: the Schubert-Bornschein type is characterized by an ERG in which the b-wave is smaller than the a-wave, whereas the Riggs type is defined by proportionally reduced a- and b-waves. In addition, Schubert-Bornschein CSNB is associated with decreased visual acuity, myopia, and nystagmus, whereas in Riggs CSNB patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by {33:Riazuddin et al., 2010}). Additionally, Schubert-Bornschein CSNB can be subdivided into 'complete' and 'incomplete' forms (summary by {33:Riazuddin et al., 2010}).\n\n{37:Van Genderen et al. (2009)} noted that standard flash ERG distinguishes a 'complete' form, also known as type 1 CSNB, from an 'incomplete' form, also known as type 2 CSNB (see CSNB2A, {300071}). The complete form is characterized by the complete absence of rod pathway function, whereas the incomplete form is due to impaired rod and cone pathway function. Complete CSNB results from postsynaptic defects in depolarizing or ON bipolar cell signaling, whereas the hyperpolarizing or OFF bipolar cell pathway is intact.\n\n{9:Bijveld et al. (2013)} noted that the term 'incomplete' CSNB refers to the less-impaired rod system function in CSNB2, whereas the more severely impaired cone system function results in a greater decrease in visual acuity, with a greater impact on a patient's daily life activities than the impairment in CSNB1. Thus, patients with so-called 'incomplete CSNB' actually experience more visual restrictions than those with 'complete CSNB,' which can be misleading to patients and their parents.\n\n<Subhead> Genetic Heterogeneity of Congenital Stationary Night Blindness\n\nAutosomal recessive forms of complete CSNB have been reported: CSNB1B ({257270}), caused by mutation in the GRM6 gene ({604096}); CSNB1C ({613216}), caused by mutation in the TRPM1 gene ({603576}); CSNB1D ({613830}), caused by mutation in the SLC24A1 gene ({603617}); and CSNB1E ({614565}), caused by mutation in the GPR179 gene ({614515}); CSNB1F ({615058}), caused by mutation in the LRIT3 gene ({615004}); CSNB1G ({139330}), caused by mutation in the GNAT1 gene ({139330}); and CSNB1H ({617024}), caused by mutation in the GNB3 gene ({139130}).\n\nAutosomal dominant forms of complete CSNB that have been reported include CSNBAD1 ({610445}), caused by mutation in the RHO gene ({180380}); CSNBAD2 ({163500}), caused by mutation in the PDE6B gene ({180072}); and CSNBAD3 ({610444}), caused by mutation in the GNAT1 gene ({139330}).\n\nIn addition, an X-linked recessive form of incomplete CSNB (CSNB2A; {300071}), caused by mutation in the CACNA1F gene ({300110}), has been reported.\n\nA form of autosomal recessive CSNB in which all other visual functions are normal is designated Oguchi disease: Oguchi type 1 ({258100}) is caused by mutation in the SAG gene ({181031}), and Oguchi type 2 ({613411}) is caused by mutation in the RHOK gene (GRK1; {180381}).\n\nIn 101 Dutch patients from 72 families diagnosed with CSNB, {9:Bijveld et al. (2013)} screened 6 known CSNB-associated genes and identified mutations in 94 patients. Of the 39 patients with CSNB1, 20 (51%) had mutations in the NYX gene, 10 (26%) in TRPM1, 4 in GRM6, and 2 in GPR179; no mutations were detected in 3 of these patients. Of the 62 patients diagnosed with CSNB2, 55 (89%) had mutations in the CACNA1F gene; no mutations were detected in 4 of these patients. {9:Bijveld et al. (2013)} stated that the electrophysiologic distinction between CSNB types 1 and 2 was thus confirmed by DNA analysis in 93% of the patients. In addition, 3 patients from the CSNB cohort, including 2 Dutch sibs originally reported by {22:Littink et al. (2009)}, were found to be homozygous for a nonsense mutation in the CABP4 gene and to exhibit a distinct phenotype that {22:Littink et al. (2009)} designated 'congenital cone-rod synaptic disorder' (CRSD; {610427})." +310600,"Norrie disease is an X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizures ({3:Berger et al., 1992}).\n\n{52:Warburg (1966)} noted confusion of the terms 'pseudoglioma' and microphthalmia with Norrie disease in the literature. 'Pseudoglioma' is a nonspecific term for any condition resembling retinoblastoma and can have diverse causes, including inflammation, hemorrhage, trauma, neoplasia, or congenital malformation, and often shows unilateral involvement. Thus, 'pseudoglioma' is not an acceptable clinical or pathologic diagnosis ({14:Duke-Elder, 1958})." +310650,{1:Balazs et al. (1978)} found that a fraction of polyadenylated nuclear RNA purified from human-mouse hybrid cells with only the human X-chromosome and a fragment of chromosome 2 shows preferential hybridization in situ to the human X-chromosome. +310700,"Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' ({24:Tarpey et al., 2006}; {22:Shiels et al., 2007}).\n\nCongenital nystagmus may also be a feature of other ocular diseases, such as albinism (see, e.g., OCA1A, {203100}), achromatopsia (see, e.g., ACHM3, {262300}), and Leber congenital amaurosis (see, e.g., LCA1, {204000}). Congenital nystagmus is associated with at least 3 X-linked disorders: Nettleship-Falls ocular albinism (OA1; {300500}), which maps to Xp22.3; complete congenital stationary night blindness (CSNB1; {310500}), which maps to Xp11.4; and blue-cone monochromatism (CBBM; {303700}), which maps to Xq28.\n\n<Subhead> Genetic Heterogeneity of Congenital Nystagmus\n\nTwo other X-linked forms of congenital nystagmus have been reported: NYS5 ({300589}), which maps to Xp11.4-p11.3, and NYS6 ({300814}), which is caused by mutation in the GPR143 gene ({300808}) on Xp22.3. Autosomal dominant forms have been mapped to chromosomes 6p12 (NYS2; {164100}), 7p11 (NYS3; {608345}), 13q (NYS4; {193003}), and 1q31-q32 (NYS7; {614826}). Autosomal recessive inheritance may rarely occur (see {257400})." +310800,"This condition may be an X-linked dominant and distinct from simple nystagmus ({310700}). In the family described by {1:Van Bogaert and De Savitsch (1937)}, 10 sons of 4 affected men were all normal with the exception of 1 instance of an affected son of an affected man who was married to a relative; 10 of the sons of 13 daughters of affected men were affected." +310900,"A single pedigree showing X-linked inheritance was described by Karl Pearson, who stated that the pedigree was that 'of a well-known family.' The following is a quotation from {1:Pearson et al. (1909)}: 'A case of some interest, the partial albinism, consisting of a white lock, appears to be inherited only through the female and to occur only in the males. II.3 (reported by IV.7), IV.7 and VI.1 had patches of white hair on the back of the head. The patch on VI.1 is about the size of a shilling, it is slightly to the right of the median plane and above the occiput: the skin from which it springs does not appear less pigmented or otherwise differentiated from the adjacent skin. Offspring of V.3 are known to exist and are said not to be affected, but details could not be ascertained.'" +311050,"For a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500})." +311070,"The phenotype of X-linked Charcot-Marie-Tooth disease-5 typically comprises the triad of optic atrophy, deafness, and polyneuropathy. However, patients without optic atrophy have been reported (summary by {4:Park et al., 2013}).\n\nFor a discussion of genetic heterogeneity of X-linked Charcot-Marie-Tooth disease, see CMTX1 ({302800}).\n\nSee {165199} and {258650} for possible autosomal dominant and autosomal recessive forms of the disorder." +311100,"{1:Bruyn and Went (1964)} described a degenerative disorder of the central nervous system associated with optic atrophy in at least 18 members of a family. One of these was female but the diagnosis was in some doubt in this case. The neurologic disorder showed features intermediate between those of hereditary spastic paraplegia (Strumpell-Lorrain) and Hallervorden-Spatz disease. The laboratory studies ({2:Went, 1964}) showed some peculiarities, e.g., abnormal oral glucose tolerance tests and mild red cell macrocytosis, but have thus far not contributed particularly to an understanding of the disorder." +311200,"Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by {11:Ferrante et al., 2001}).\n\nSince the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy ({3:Chetty-John et al., 2010})." +311250,"Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle, which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.\n\nUrea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency ({237300}), argininosuccinate synthetase deficiency, or citrullinemia ({215700}), argininosuccinate lyase deficiency ({207900}), and arginase deficiency ({207800})." +311300,"Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1; {305620}), otopalatodigital syndrome-2 (OPD2; {304120}), and Melnick-Needles syndrome (MNS; {309350}), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by {17:Robertson, 2005}). {26:Verloes et al. (2000)} suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'" +311350,"This is a cellular phenotype used in cell hybrid studies ({4:Creagan, 1974}). Ouabain resistance, for which human cell lines can be selected, behaves as a dominant. Ouabain, a steroid drug, is known to inhibit the plasma membrane ATPase (ATP phosphohydrolase; {EC 3.6.1.3}) that mediates active Na-K exchange. A high affinity ouabain binding site is characteristic of cultured human cells and, from study of mouse-human hybrids, maps to either chromosome 16 or chromosome 18 ({2:Baker, 1979}). {3:Choy and Littlefield (1980)} isolated a human lymphoblast line presumably homozygous for ouabain resistance. The resistant cells had a reduction in high-affinity receptors. The ouabain binding site is known to be located in the Na+,K+,ATPase molecule, an essential membrane enzyme that mediates ion transport. Both heterozygous and homozygous cell lines were identified. Rodent cells are relatively resistant to killing by ouabain. From study of human-mouse somatic cell hybrids, {7:Law et al. (1984)} found that a gene for ouabain resistance in mouse cells is syntenic with that for HPRT ({308000}). X-ray treatment of the mouse cells before fusion resulted in separation of ouabain resistance and HPRT+ in only 2 out of 12 hybrids, suggesting that the 2 loci are relatively closely linked. Because of the Ohno phenomenon, it is likely that ouabain resistance is X-linked in man. The ouabain resistance phenotype in mouse x hamster somatic cell hybrids segregates with mouse chromosome 3 ({6:Kozak et al., 1979}). By gene transfer experiments, {5:Fallows et al. (1987)} confirmed that it is the mouse ATP1A1 gene that confers ouabain resistance; the corresponding gene is on human chromosome 1 in a region that is homologous to mouse chromosome 3 (see {182310}). Another mouse ouabain resistance gene, that isolated by {8:Levenson et al. (1984)}, does not encode an ATPase subunit, and its chromosomal localization has not been reported." +311360,"Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, {233300}) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years ({7:Coulam, 1982}). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation ({3:Bione et al., 1998}).\n\n<Subhead> Reviews\n\n{27:Qin et al. (2015)} reviewed the genetics of primary ovarian insufficiency (POI), also known as POF. They noted that causative genes had been identified in only 20 to 25% of POI cases.\n\n{30:Rossetti et al. (2017)} reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%.\n\n<Subhead> Genetic Heterogeneity of Premature Ovarian Failure\n\nMutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A ({300511}) by mutation in the DIAPH2 gene ({300108}) and POF2B ({300604}) by mutation in the POF1B gene ({300603}). See also POF3 ({608996}), caused by mutation in the FOXL2 gene ({605597}) on chromosome 3q22; POF4 (see {300510}), caused by mutation in the BMP15 gene ({300247}) on chromosome Xp11; POF5 ({611548}), caused by mutation in the NOBOX gene ({610934}) on chromosome 7q35; POF6 ({612310}), caused by mutation in the FIGLA gene ({608697}) on chromosome 2p13; POF7 ({612964}), caused by mutation in the NR5A1 gene ({184757}) on chromosome 9q33; POF8 ({615723}), caused by mutation in the STAG3 gene ({608489}) on chromosome 7q22; POF9 ({615724}), caused by mutation in the HFM1 gene ({615684}) on chromosome 1p22; POF10 ({612885}), caused by mutation in the MCM8 gene ({608187}) on chromosome 20p12; POF11 ({616946}), caused by mutation in the ERCC6 gene ({609413}) on chromosome 10q11; POF12 ({616947}), caused by mutation in the SYCE1 gene ({611486}) on chromosome 10q26; POF13 ({617442}), caused by mutation in the MSH5 gene ({603382}) on chromosome 6p21; POF14 ({618014}), caused by mutation in the GDF9 gene ({601918}) on chromosome 5q31; POF15 ({618096}), caused by mutation in the FANCM gene ({609644}) on chromosome 14q21; POF16 ({618723}), caused by mutation in the BNC1 gene ({601930}) on chromosome 15q25; POF17 ({619146}), caused by mutation in the XRCC2 gene ({600375}) on chromosome 7q36; POF18 ({619203}), caused by mutation in the C14ORF39 gene ({617307}) on chromosome 14q23; POF19 ({619245}), caused by mutation in the HSF2BP gene ({604554}) on chromosome 21q22; and POF20 ({609938}), caused by mutation in the MSH4 gene ({602105}) on chromosome 1p31.\n\nIn 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, {4:Bouilly et al. (2016)} screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. {4:Bouilly et al. (2016)} suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF." +311450,"{3:Pallister et al. (1974)} described 2 brothers with a mental retardation syndrome characterized by an unusual physiognomy (frontal prominence), anterior cowlick, hypertelorism, antimongoloid orbital slant, and broad, flat nasal bridge like that of the OPD syndrome ({311300}), midline notch of upper lip and submucous cleft of the hard palate, absent upper central incisors, limited motion at the elbow due to subluxation, camptodactyly, and pes cavus. In addition to the mental retardation, the patients had grand mal seizures. The mother and a sister were considered mildly affected, consistent with heterozygous manifestation of an X-linked trait. {1:Bottani and Schinzel (1993)} described a patient thought to have this disorder. Severe mental retardation with seizures was associated with a pattern of facial dysmorphism, including high broad forehead, downslanting palpebral fissures, hypertelorism, peculiar nose, and peculiar upper lip with a median notch (incomplete midline oral cleft). The face was compared to that of a boxer, i.e., pugilistic face.\n\n{2:Goizet et al. (1999)} reported 3 patients with the Pallister W syndrome and reviewed the 4 patients in 2 separate families that had previously been described. Constant features seemed to be characteristic facies with prominent mandible and pugilistic appearance, and central nervous system involvement with strabismus, spasticity, and moderate to severe mental retardation." +311510,"Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (summary by {4:Wilson et al., 2014})." +311900,"The classic features of TARP syndrome are talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava. Not all patients have all classic features. Some patients have the additional features of central nervous system dysfunction, renal abnormalities, variable cardiac anomalies including hypertrophic obstructive cardiomyopathy, and variable distal limb defects including syndactyly. Most patients die in late prenatal or early postnatal stages (summary by {5:Kaeppler et al., 2018})." +312060,"Properdin (factor P) is a plasma protein that is active in the alternative complement pathway of the innate immune system. It is a positive regulatory factor that binds to many microbial surfaces to stabilize the C3b,Bb convertase. Deficiency of properdin is associated in particular with a heightened susceptibility to Neisseria species ({11:Janeway et al., 2001})." +312080,"Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay ({34:Inoue, 2005}).\n\n<Subhead> Genetic Heterogeneity of Hypomyelinating Leukodystrophy\n\nOther forms of hypomyelinating leukodystrophy include HLD2 ({608804}), caused by mutation in the GJC2/GJA12 gene ({608803}) on chromosome 1q41; HLD3 ({260600}), caused by mutation in the AIMP1 gene ({603605}) on chromosome 4q24; HLD4 ({612233}), caused by mutation in the HSPD1 gene ({118190}) on chromosome 2q33.1; and HLD5 ({610532}), caused by mutation in the FAM126A gene ({610531}) on chromosome 7p15; HLD6 ({612438}), caused by mutation in the TUBB4A gene ({602662}) on chromosome 19p13; HLD7 ({607694}), caused by mutation in the POLR3A gene ({614258}) on chromosome 10q22; HLD8 ({614381}), caused by mutation in the POLR3B gene ({614366}) on chromosome 12q23; HLD9 ({616140}), caused by mutation in the RARS gene ({107820}) on chromosome 5; HLD10 ({616420}), caused by mutation in the PYCR2 gene ({616406}) on chromosome 1q42; HLD11 ({616494}), caused by mutation in the POLR1C gene ({610060}) on chromosome 6p21; HLD12 ({616683}), caused by mutation in the VPS11 gene ({608549}) on chromosome 11q23; HLD13 ({616881}) caused by mutation in the HIKESHI gene ({614908}) on chromosome 11q14; HLD14 ({617899}), caused by mutation in the UFM1 gene ({610553}) on chromosome 13q13; HLD15 ({617951}), caused by mutation in the EPRS gene ({138295}) on chromosome 1q41; HLD16 ({617964}), caused by mutation in the TMEM106B gene ({613413}) on chromosome 7p21; HLD17 ({618006}), caused by mutation in the AIMP2 gene ({600859}) on chromosome 7p22; HLD18 ({618404}), caused by mutation in the DEGS1 gene ({615843}) on chromosome 1q42; HLD19 ({618688}), caused by mutation in the TMEM63A gene ({618685}) on chromosome 1q42; HLD20 ({619071}), caused by mutation in the CNP gene ({123830}) on chromosome 17q21; HLD21 ({619310}), caused by mutation in the POLR3K gene ({606007}) on chromosome 16p13; HLD22 ({619328}), caused by mutation in the CLDN11 gene ({601326}) on chromosome 3q26; and HLD23 ({619688}), caused by mutation in the RNF220 gene ({616136}) on chromosome 1p34." +312150,"{1:Carnevale et al. (1973)} observed a family with 7 cases of pterygium syndrome in 3 generations and suggested X-linked dominant inheritance because father-to-son transmission did not occur, and all 4 daughters but none of 4 sons of an affected male were affected. Against X-linked dominant inheritance was the fact that females were not more mildly affected than the 1 affected male in the pedigree.\n\n{3:Tolmie et al. (1987)} described a prenatal lethal multiple pterygium syndrome occurring in 2 male sibs and a first cousin once removed connected through presumptively carrier females. {2:Meyer-Cohen et al. (1999)} described 4 male fetuses in 1 sibship with healthy nonconsanguineous parents and raised the question of an X-linked recessive subtype of lethal pterygium syndrome. In a review of the literature, the family reported by {3:Tolmie et al. (1987)} was the only one that strongly supported X-linked inheritance." +312170,"Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis ({41:Robinson et al., 1987}; {7:Brown et al., 1994}).\n\n<Subhead> Genetic Heterogeneity of Pyruvate Dehydrogenase Complex Deficiency\n\nPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD; {245349}) caused by mutation in the component X gene (PDHX; {608769}) on chromosome 11p13; a form (PDHBD; {614111}) caused by mutation in the PDHB gene ({179060}) on chromosome 3p14; a form (PDHDD; {245348}) caused by mutation in the DLAT gene ({608770}) on chromosome 11q23; a form (PDHPD; {608782}) caused by mutation in the PDP1 gene ({605993}) on chromosome 8q22; and a form (PDHLD; {614462}) caused by mutation in the LIAS gene ({607031}) on chromosome 4p14." +312190,"{2:Gibson et al. (1988)} described a male fetus with bilateral radial aplasia, hydrocephalus, and penile hypospadias who had a similarly affected maternal uncle. The uncle, who died soon after birth, also had imperforate anus. The legs were normal in both. {1:Gibson et al. (1993)} published a full report on these patients and suggested that the complex is a distinct X-linked syndrome of absent radii and anogenital anomalies." +312200,{2:Walker (1941)} suggested that this pattern is sex-linked. {1:Holt (1962)} could not confirm the suggestion of X-linkage. +312210,"In most individuals, natural killer (NK) activity is abolished after lymphocyte irradiation with 3,000 cGy, while lymphocytes from a minority of males retain 100% NK activity and lymphocytes from some females retain 50% NK activity after this dose ({1:Brovall and Schacter, 1981}). Radiation sensitivity of NK activity is controlled by X-linked codominant genes. The frequency of the allele that imparts resistance is 7%. {2:Tilden et al. (1991)} studied a unique family in which both parents had the resistant allele such that the father was completely resistant and the mother partially resistant. The 3 offspring of the couple were 1 sensitive male, 1 partially resistant female, and 1 completely resistant female. {2:Tilden et al. (1991)} presented evidence that other types of cytotoxic functions are under the same genetic control." +312300,"Individuals with androgen insensitivity have a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. The phenotype in PAIS varies depending on residual androgen receptor function, ranging from severe undermasculinization presenting as female-like external genitalia to male-appearing genitalia. The typical presentation comprises micropenis, severe hypospadias, and bifid scrotum with or without cryptorchidism (summary by {19:Mongan et al., 2015})." +312500,"{1:Falletta et al. (1973)} described a Latin American family in which 17 males in 2 generations died under the age of 6 years, following an illness characterized by fever, pallor, jaundice, hepatosplenomegaly, and lymphadenopathy. Median age of onset was 14 months (4-62 months) and median duration of illness was 22 days (1-50 days). Histologic changes were consistent with malignant reticuloendotheliosis. All affected males were related through their mothers." +312550,"{2:Godel et al. (1978)} and {1:Godel and Goodman (1981)} described an Iraqi-Jewish family in which a son of each of 5 sisters had retinal dysplasia. It is not clear that this is distinct from retinoschisis ({312700}) of which congenital falciform fold of the retina may be an expression. In Godel's cases the characteristic ophthalmoscopic finding was an elevated retinal fold emanating from the optic disc, covering the macular area and widening toward the temporal fundus. Partial affection was found in 2 of 5 obligatory heterozygotes: 'paramacular small retinal foldlike structure' in one and 'retinal dysplastic tissue in the upper temporal periphery of the left eye' in the other. {4:Weve (1938)} commented on the preponderance of boys with falciform folds of the retina (ablatio falciformis congenita) and suggested that there is an X-linked form. {1:Godel and Goodman (1981)} postulated that the disorder in this family was distinct from Norrie disease ({310600}), since in affected males no clinical findings other than those associated with the eyes could be demonstrated. Moreover, 2 out of the 5 obligatory carrier females showed minimal eye changes, including retinal folds and changes in the stroma of the irides, which are atypical findings for carriers of Norrie disease. However, {3:Ravia et al. (1993)} found that the gene for X-linked recessive primary retinal dysplasia showed the same linkage relationships to markers on Xp as does Norrie disease. Thus, it may be allelic. Identification of mutations in the Norrie disease gene will settle the matter." +312600,"Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population ({7:Boughman et al., 1980}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +312612,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +312700,"X-linked retinoschisis (XLRS) is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to reduced visual acuity in affected men. The condition accounts for almost all congenital retinoschisis, with occasional reports of autosomal dominant retinoschisis (see {180270}) making up the remainder. The split in the retina occurs predominantly within the inner retinal layers and is very different from retinal detachment, which is a split between the neural retina and the retinal pigment epithelium. In general, carrier females remain asymptomatic (summary by {46:Sikkink et al., 2007})." +312750,"Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. It is characterized by arrested development between 6 and 18 months of age, regression of acquired skills, loss of speech, stereotypic movements (classically of the hands), microcephaly, seizures, and mental retardation. Rarely, classically affected males with somatic mosaicism or an extra X chromosome have been described ({65:Moog et al., 2003})." +312780,"The possibility of an X-linked form was raised by {1:Partington (1985)} on the basis of the following observations: 2 brothers, aged 7 and 4, had prenatal growth retardation, triangular facies and cafe-au-lait (CAL) spots. Both had asthma. The mother was 160 cm tall and had CAL spots. Her 4 brothers were tall with no spots. Of her 5 sisters, 3 were over 168 cm tall and had no spots; 2 were 156 cm tall and had CAL spots. {1:Partington (1985)} suggested that this may represent X-linked inheritance with severe expression in males and mild expression in females. In the full report with illustrations ({2:Partington, 1986}), the pigmentary anomaly was presented as quite different from cafe-au-lait spots. The changes were progressive, starting at age 1 year in the younger child. Both pigmented and achromatic areas developed on the trunk and limbs sparing the face." +312840,"{1:Schimke et al. (1984)} reported 4 boys (3 in 1 family) with a remarkably consistent syndrome of childhood-onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external ophthalmoplegia, and varying degrees of deafness. Copper, ceruloplasmin ({117700}), and uric acid levels in serum were normal. The familial cases occurred in 2 maternal cousins and a maternal uncle of theirs. Assays of hypoxanthine-guanine phosphoribosyl transferase were not reported." +312870,"Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, coarse facies, congenital heart defects, and other congenital abnormalities ({43:Xuan et al., 1999}). It shows phenotypic similarities to Beckwith-Wiedemann syndrome (BWS; {130650}), another overgrowth syndrome.\n\n<Subhead> Genetic Heterogeneity of Simpson-Golabi-Behmel Syndrome\n\nSee Simpson-Golabi-Behmel syndrome type 2 (SGBS2; {300209}), caused by mutation in the OFD1 gene ({300170}) on chromosome Xp22." +312910,"{1:Wells and Jankovic (1986)} described a chronic neurodegenerative disorder affecting at least 6 males in 3 sibships spanning 3 generations of a family. The features were spastic paraparesis, beginning at about age 10 years, and deafness in all affected members. Additionally, tremor, lens opacities, short stature, and hypogonadism were present. Although the features suggested adrenoleukodystrophy ({300100}), normal values for very long chain fatty acids appeared to exclude this possibility." +312920,"The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of {6:Fink et al. (1996)} and {7:Fink (1997)}. Some forms of SPG are considered 'uncomplicated,' i.e., progressive spasticity occurs in isolation; others are considered 'complicated,' i.e., progressive spasticity occurs with other neurologic features. X-linked, autosomal dominant (see {182600}), and autosomal recessive (see {270800}) forms of SPG have been described.\n\nFor discussion of genetic heterogeneity of X-linked SPG, see {303350}." +313000,"{14:Stafford (1961)}, using the identical blocks test as a measure of spatial visualization, studied 104 fathers and mothers and their 58 teenage sons and 70 daughters. Males showed higher average scores than females in both the parental and offspring group. No correlation of scores existed between fathers and mothers and none between fathers and sons. The correlations between fathers and daughters, between mothers and sons, and between mothers and daughters was what would be expected on the assumption that the aptitude for visualizing space is an X-linked recessive trait. {4:Garron (1970)} pointed out that if spatial and numerical abilities are determined by an X-linked recessive gene, patients with Turner syndrome should show superior not inferior performance. {2:Bock and Kolakowski (1973)} presented further evidence for X-linked recessive inheritance. Uncertainty about X-linkage was introduced by the studies of {8:Loehlin et al. (1978)}. {11:Sherman (1978)} reviewed the whole subject of sex-related cognitive differences and discounted a biologic basis for them. Specifically, she examined the suggestion of X-linked inheritance of mathematical problem solving and spatial visualization and concluded that the hypotheses 'are disconfirmed.' {11:Sherman (1978)}, 'in order to increase the precision of expression,' made use in her book of the neuter pronouns 'tey,' 'ter' and 'tem' when the sex of the person was used in a generic sense. The three neologisms were conceived as the singular equivalents of they, their and them.\n\n{13:Smalley et al. (1989)} examined performance on 6 spatial tests in 73 members of 4 generations of an extended kindred. Nonadditive genetic variance was substantial for 1 of the 6 tests, card rotations. Whether this nonadditive genetic variance was due to a major autosomal gene was equivocal in light of results from segregation and linkage analyses. There was no evidence for the genetic variance for mental rotations or hidden patterns, in contrast to previous findings suggesting major gene involvement ({1:Ashton et al., 1979}). {13:Smalley et al. (1989)} concluded that if spatial ability is due, in part, to an autosomal major gene, the gene has variable expression (reflected in different tests) or genetic heterogeneity is pronounced. The rationale for studying a single large kindred was the possibility of reducing genetic heterogeneity and increasing the power of linkage studies.\n\nTurner syndrome (monosomy X) is associated with a characteristic neurocognitive profile that includes impaired visuospatial/perceptual abilities. {10:Ross et al. (2000)} used a molecular approach to identify a critical region of the X chromosome for neurocognitive aspects of Turner syndrome. Partial deletions of Xp in 34 females were mapped by FISH or by loss of heterozygosity of polymorphic markers. Discriminant function analysis optimally identified the Turner syndrome-associated neurocognitive phenotype. Only subjects missing approximately 10 Mb of distal Xp manifested the specified neurocognitive profile. The phenotype was seen with either paternally or maternally inherited deletions and with either complete or incomplete skewing of X inactivation. Fine mapping of informative deletions implicated a critical region of less than 2 Mb within the pseudoautosomal region (PAR1). {10:Ross et al. (2000)} concluded that the haploinsufficiency of a PAR1 gene or genes is the basis for susceptibility to the Turner syndrome neurocognitive phenotype. Females with nonmosaic deletions missing only distal Xp22.33, at a minimum, manifested the defined Turner syndrome-associated cognitive profile." +313200,"Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia ({15:Harding et al., 1982}). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300})." +313350,"Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals ({3:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of split-hand/split-foot malformation, see SHFM1 ({183600})." +313480,"Using a 4.5 kb segment of single-copy DNA from a human genomic library as a hybridization probe of genomic human DNA, {1:Page et al. (1982)} found allelic Taq I restriction fragments 10.6, 11.8, and 14.6 kb long. Among 12 unrelated persons, all 6 males showed the 14.6 kb fragment in addition to one of the other fragments. Of the females, 3 showed 10.6 and 11.8 kb fragments and 3 showed only one fragment length; no female had the 14.6 kb fragment. In human-rodent somatic cell hybrids, the 14.6 kb fragment segregated with the human X chromosome. Study of 48 members of a single kindred showed Y-linkage of the 10.6 and 11.8 kb fragments. Thus, homology of single-copy sequences on the X and Y is demonstrated. It will be of great interest to know whether the TAQ1 'locus' is, as one might predict, on Xp and Yp." +313900,"Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (summary by {12:Villa et al., 1995}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Thrombocytopenia\n\nAutosomal dominant forms of thrombocytopenia include THC2 ({188000}), caused by mutation in the ANKRD26 ({610855}) gene on chromosome 10; THC4 ({612004}), caused by mutation in the CYCS gene ({123970}) on chromosome 7; THC5 ({616216}), caused by mutation in the ETV6 gene ({600618}) on chromosome 12p13; THC6 ({616937}), caused by mutation in the SRC gene ({190090}) on chromosome 20q12; and THC7 ({619130}), caused by mutation in the IKZF5 gene ({606238}) on chromosome 10q26.\n\nAn autosomal recessive form (THC3; {273900}) is caused by mutation in the FYB gene ({602731}) on chromosome 5p13.\n\nAlso see {188000} for discussion of a possible form of THC caused by mutation in the MASTL gene ({608221}) on chromosome 10.\n\n{2:Balduini and Savoia (2012)} reviewed the familial forms of thrombocytopenia and their molecular bases." +314000,{1:Gutenberger et al. (1970)} described a kindred in which 10 males and 2 females had thrombocytopenia apparently as a result of reduced platelet production. Eight of the thrombocytopenic persons had elevated IgA levels in the serum. Renal biopsy in 3 thrombocytopenic brothers with hematuria showed varying degrees of glomerulonephritis. The 2 thrombocytopenic women were mothers of affected sons. One of these 2 women also had elevated IgA. The authors concluded that the disorder is X-linked and probably distinct from the Wiskott-Aldrich syndrome ({301000}) and from 'simple' X-linked thrombocytopenia ({313900}). +314050,"XLTT is an X-linked recessive hematologic disorder characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis (summary by {2:Ciovacco et al., 2008} and {3:Millikan et al., 2011})." +314100,"Congenital clasped thumb is a progressive flexion and adduction deformity presenting with heterogeneous congenital anomalies. Although the disease is rare, the diagnosis is often delayed due to the natural location of the thumb within the palm in the first 3 months of life. The thumb extension deformity is due to extensor tendon insufficiency and muscle and skin contractions at flexor and thenar regions (summary by {4:Serbest et al., 2015}).\n\nClasped thumb occurs in some families with X-linked hydrocephalus due to stenosis of the aqueduct of Sylvius ({307000}). Also see adducted thumbs syndrome ({201550})." +314240,"From study of tooth size in XO, XX, XY, XYY, XXX and other aneuploid states, Alvesalo and his colleagues (e.g., {1:Alvesalo and Portin, 1980}) concluded that there are dental growth-promoting factors on both the X and the Y chromosomes. '...the promoting effect of the Y chromosome on tooth growth seems more effective than that of the X chromosome.' Short roots, irrespective of root resorption, have been documented as a 'familial trait' by {2:Lind (1972)}, who noted it in 2 generations of 1 family and in 3 generations of another." +314380,"The unique green phenomenon ({1:Cobb, 1975}) is 'the occurrence whereby the point in the spectrum that is judged to be pure green, i.e. neither blue-green nor yellow-green has a distinctly bimodal distribution in a male population.' {1:Cobb (1975)} demonstrated sex-linkage and concluded that there may be a highly photolabile visual pigment, determined by an X-borne gene, which absorbs maximally at about the yellow region of the spectrum." +314390,"VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see {192350}). Some patients may have hydrocephalus, which is referred to as VACTERL-H ({1:Briard et al., 1984})." +314400,"X-linked cardiac valvular dysplasia is a rare form of heart disease characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients. Heterozygous females are more mildly affected than hemizygous males. Some patients also exhibit features of Ehler-Danlos syndrome (EDS; see {130000}), with hyperextensible skin and joint hypermobility, whereas others have stiffening of joints from early childhood ({7:Kyndt et al., 2007}; {14:Ritelli et al., 2017}; {10:Mercer et al., 2017})." +314500,"The components of this syndrome, which is transmitted as an X-linked recessive, as described by {1:Van den Bosch (1959)} are: (1) mental deficiency, (2) choroideremia, (3) acrokeratosis verruciformis, (4) anhidrosis, and (5) skeletal deformity. An interesting and possibly important point is that at least 3 of these 5 components have been described as isolated X-linked traits. The syndrome has been observed in a single kindred. Close linkage of several loci and a small X-chromosome deletion would explain this disorder as a 'contiguous gene syndrome.' The availability of increasingly refined banding techniques might permit testing this idea." +314550,"On the basis of a family in which 3 brothers and their maternal grandfather were affected, {1:Middleton et al. (1975)} concluded that an X-linked form may exist. None of 3 sisters was affected. See {193000}." +314560,"{1:Holmberg and Nilsson (1973)} used a monospecific precipitating rabbit antiserum against human antihemophilic factor-related protein to study 77 patients with von Willebrand disease (defined by low factor VIII, prolonged bleeding time and decreased platelet adhesiveness). They found two groups of patients. The larger group (57 patients) corresponded to classic von Willebrand disease and had low factor VIII protein. The other 20 patients had normal amounts of protein. Their disorder may be X-linked dominant. Infusion of human antihemophilic factor containing fraction I-O did not produce the delayed increase in antihemophilic factor characteristic of the first group. Various forms were suggested also by {2:Koutts et al. (1975)}." +314580,"Wieacker-Wolff syndrome (WRWF) is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia), which results in arthrogryposis multiplex congenita (AMC) apparent at birth. Affected boys are born with severe contractures, show delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and foot deformities. Additional features include global developmental delay with poor or absent speech and impaired intellectual development, feeding difficulties and poor growth, hypotonia, hypogenitalism, and spasticity. Carrier females may be unaffected or have mild features of the disorder (summary by {3:Hirata et al., 2013} and {1:Frints et al., 2019})." +314800,"The Xh antigen was first described by {1:Bundschuh (1966)}, who suggested X-linkage because the antigen is more frequent in women (97%) than in men (88%). The antigen is demonstrated with antiserum produced by injecting rabbits with pooled serum from healthy women and absorption of the immune serum with selected male sera. Genetic analysis is complicated by the fact that both genetic and nongenetic factors seem to influence the quantity of the antigen present. {2:Dunston and Gershowitz (1973)} showed that Xh and Pa 1 ({260100}) are identical, that X-linkage is ruled out by findings in 2 females, and that this is probably not a mendelian polymorphism. See {260100} for evidence excluding X-linkage." +314900,"{2,3:Berg and Bearn (1966, 1966)} discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage." +400021,See {300221} and {1:Horwitz and Wiernik (1999)} for discussion of a putative locus for Hodgkin disease in the pseudoautosomal region. +400042,"In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules ({13:Sargent et al., 1999}).\n\nAnother, possibly X-linked, form of Sertoli cell-only syndrome has also been reported ({305700}).\n\n<Subhead> Heterogeneity of Spermatogenic Failure\n\nSee {415000} for a general discussion of the AZF region of the Y chromosome and Y-linked nonobstructive spermatogenic failure.\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +400043,"Y-linked deafness-1 (DFNY1) is characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life ({4:Wang et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Y-Linked Deafness\n\nDFNY2 ({400047}) is caused by mutation in the TBL1Y gene ({400033})." +400044,"Individuals with 46,XY complete gonadal dysgenesis are phenotypically female; however, they do not develop secondary sexual characteristics at puberty and do not menstruate. They have bilateral 'streak gonads,' which typically consist of fibrous tissue and variable amounts of wavy ovarian stroma. A uterus and fallopian tube are present and external genitalia are female (reviewed by {5:Berkovitz et al., 1991}).\n\n<Subhead> Genetic Heterogeneity of 46,XY Sex Reversal\n\nMale sexual determination is initiated by Y-chromosomal SRY, which activates a cascade of genes that lead the embryonic gonad to develop into a testis. Fetal testicular Sertoli cells then produce mullerian inhibitory substance ({600957}), which is responsible for the involution of the mullerian ducts, which would otherwise develop into the uterus, fallopian tubes, and cervix. Fetal testicular Leydig cells produce testosterone from cholesterol by the sequential action of a series of enzymes. Subsequent differentiation of male external genitalia also requires the action of dihydrotestosterone, produced from testicular testosterone. Perturbations in the enzymes in this classic pathway or in an alternative pathway of testicular androgen biosynthesis can result in genetic males with disordered sexual development and incompletely developed ('ambiguous') external genitalia (summary by {16:Fluck et al., 2011}).\n\nDisorders of male development for which a genetic cause has been found include 46,XY sex reversal-2 (SRXY2; {300018}), which is caused by duplication of the NR0B1 gene ({300473}) on chromosome Xp21.3-p21.2; SRXY3 ({612965}), caused by mutation in the NR5A1 gene ({184757}) on chromosome 9q33; SRXY4 ({154230}), caused by deletion on chromosome 9p24.3; SRXY5 ({613080}), caused by mutation in the CBX2 gene ({602770}) on chromosome 17q25; SRXY6 ({613762}), caused by mutation in the MAP3K1 gene ({600982}) on chromosome 5q11.2; SRXY7 ({233420}), caused by mutation in the DHH gene ({605423}) on chromosome 12q13; SRXY8 ({614279}), caused by mutation in the AKR1C2 gene ({600450}) on chromosome 10p15, with a possible contribution from the closely linked AKR1C4 gene ({600451}); SRXY9 ({616067}), caused by mutation in the ZFPM2 gene ({603693}) on chromosome 8q23; and SRXY10 ({616425}), caused by deletion of the XYSR regulatory region -640 kb upstream of the SOX9 gene ({608160}) on chromosome 17q24.\n\n{51:Wilhelm and Koopman (2006)} reviewed male sexual development and the genetics of disorders of human sexual development, noting that most cases of XY sex reversal, SRY-negative XX sex reversal, and true hermaphroditism remained unexplained at the molecular level." +400045,"A disorder of sex development (DSD) is a 'congenital condition in which development of chromosomal, gonadal, or anatomic sex is atypical.' 46,XX DSD is a disorder of gonadal (ovarian) development, which may be complete or partial ({13:Lee et al., 2006}). Sex-reversed 46,XX individuals can present as phenotypically normal males, as men with genital ambiguities, or as true hermaphrodites ({1:Ahmad et al., 2012}).\n\n46,XX male sex reversal is a condition in which a phenotypically normal male has a female genotype. A 'true hermaphrodite' must have both mature ovarian and mature testicular tissue with histologic evidence of follicles and tubules, respectively ({17:van Niekerk and Retief, 1981}). It is a genetically heterogeneous condition.\n\n<Subhead> Genetic Heterogeneity of 46,XX Sex Reversal\n\nAnother form of 46,XX sex reversal (SRXX2; {278850}) is caused by duplication or triplication in a regulatory region upstream of the SOX9 gene ({608160}) on chromosome 17q24. SRXX3 ({300833}) is caused by duplications or deletions in the SOX3 ({313430}) regulatory region on chromosome Xq26. SRXX4 ({617480}) is caused by mutation in the NR5A1 gene ({184757}) on chromosome 9q33. SRXX5 ({618901}) is caused by mutation in the NR2F2 gene ({107773}) on chromosome 15q26." +400047,"Y-linked deafness-2 (DFNY2) is characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life ({1:Di Stazio et al., 2019}).\n\nFor a discussion of genetic heterogeneity of Y-linked deafness, see DFNY1 ({400043})." +415000,"About 2 to 3% of human males are infertile because of defects in sperm function, primarily due to oligozoospermia (defined as less than 10-15 million sperm per mL of semen) or azoospermia ({20:Hull et al., 1985}).\n\n<Subhead> Heterogeneity of Spermatogenic Failure\n\nFor a discussion of Y-linked spermatogenic failure due to Sertoli cell-only syndrome, see {400042}.\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +424500,"An increased risk for gonadoblastoma in phenotypic females with dysgenetic gonads and the presence of Y-chromosomal material is well established ({6:Verp and Simpson, 1987}). {2:Page (1987)} postulated the existence of a gene (GBY) on the Y chromosome with an undefined physiologic function in normal males but with the ability to predispose dysgenetic gonads to develop malignancy when present in females. On the basis of 2 reported cases of females with dysgenetic gonads, deleted Y chromosomes, and gonadoblastoma, {2:Page (1987)} argued that the GBY gene is located either near the centromere or on the long arm of the Y chromosome and is distinct from the testis-determining factor. {3:Petrovic et al. (1992)} described a 12-year-old girl who was referred for chromosome analysis because of short stature and was found to have a mosaic karyotype 45,X/46,X,+mar. The marker chromosome was found in 58% of the blood lymphocytes. DNA analysis using Y-specific probes showed absence of the testis-determining region and the presence of some short arm and centromeric Y-chromosomal material. In situ hybridization confirmed that the Y-chromosomal material was associated with the marker chromosome. At laparotomy the patient was found to have streak gonads with a dysgerminoma arising from a gonadoblastoma in the left gonad. The case demonstrated that even very small Y-derived marker chromosomes with pericentric material can predispose the phenotypic female to gonadal neoplasia.\n\n{5:Tsuchiya et al. (1995)} used sequence tagged sites to perform deletion mapping of the Y chromosome in sex-reversed female patients with a Y chromosome and gonadoblastoma. The GBY gene was sublocalized to a small region near the centromere. They estimated the size of the GBY critical region to be approximately 1-2 Mb. Their analysis indicated that copies of the 2 dispersed Y-linked gene families, TSPY ({480100}) and YRRM (Y-chromosome RNA recognition motif; {400006}) were present in all patients. Copies of TSPY but not YRRM fall within the GBY critical region as formally defined by deletion mapping. Two tumor samples showed expression of both genes and in one patient this expression was limited to a unilateral gonadoblastoma but absent in the contralateral streak gonad. Although the results of {5:Tsuchiya et al. (1995)} did not directly implicate TSPY or YRRM in the etiology of the tumor, they raised the issue of whether there is one GBY gene in the critical region or possibly multiple GBY loci dispersed on the Y chromosome.\n\n{4:Salo et al. (1995)} attempted to map GBY by making use of a dense map of Y-chromosome sequence tagged sites (STSs). In 2 female patients with gonadoblastoma, small marker chromosomes contained portions of the Y chromosome, and a single region of overlap could be defined extending from probe pDP97 in interval 4B, which contains the centromere, to marker sY182 in interval 5E of the proximal long arm. This interval is contained in a YAC contig that comprises approximately 4 Mb of DNA. Their result confirmed the previous localization of GBY and greatly refined it. The localization overlaps with the region to which GCY ({475000}), a putative growth determinant, had been assigned.\n\nBy PCR, {1:Gravholt et al. (2000)} examined 114 females with Turner syndrome for the presence of Y-chromosomal material and found 14 who had Y-chromosomal material. The karyotype in 7 of these patients did not suggest the presence of Y-chromosomal material. Seven of the patients had been ovariectomized before entering the study due to verified Y-chromosomal material, whereas 3 patients were operated upon after the DNA analysis. The histopathologic evaluations showed that 1 of the 10 ovariectomized patients actually had a gonadoblastoma. The authors concluded that the frequency of Y-chromosomal material is high in Turner syndrome (12.2%), but the occurrence of gonadoblastoma among Y-positive patients seems to be low (7-10%), and the risk may have been overestimated in previous studies, perhaps due to problems with selection bias." +425500,The hairy ears trait consists of long hairs growing from the helix of the pinna; see {1:Dronamraju (1964)} and {6:Stern et al. (1964)}. +475000,"That at least one gene concerned with stature is on the Y chromosome is suggested by the comparative heights associated with the XX, XY, and XYY genotypes; that the effect of the Y chromosome on stature is mediated through a mechanism other than androgen is suggested by the tall stature of persons with XY gonadal dysgenesis ({400044}). It is also argued, from XO and XXY cases, that genes determining slower maturation must be located on the Y chromosome ({11:Tanner et al., 1959}). {12:Yamada et al. (1981)} found a correlation between the length of the heterochromatic band Yq12 and height; yet complete or almost complete lack of the heterochromatic segment in Amish males of the surname Byler had no effect on stature (or fertility) ({4:Borgaonkar et al., 1969}). {9:Ogata and Matsuo (1992)} compared the adult height of 27 patients with XY gonadal dysgenesis with 27 patients with XX gonadal dysgenesis ({233300}). Heights were 171.0 cm and 164.4 cm, respectively; p = less than 0.01. The postulated locus for stature, symbolized STA, was not mapped.\n\nFrom study of tooth size in XO, XX, XY, XYY, XXX and other aneuploid states, {1,2:Alvesalo and de la Chapelle (1979, 1981)} and {3:Alvesalo and Portin (1980)} concluded that there are dental growth-promoting factors on both the X and the Y chromosomes. {3:Alvesalo and Portin (1980)} suggested that '...the promoting effect of the Y chromosome on tooth growth seems more effective than that of the X chromosome.' This postulated locus on the Y chromosome was earlier symbolized TS; since HGM8 in Helsinki (1985), it has been symbolized GCY for 'growth control Y.' The dental growth factors are thought to be identical to determinants for stature ({5:de la Chapelle, 1994}).\n\nTo localize the growth gene(s) thought to reside on the X chromosome, {10:Ogata et al. (1995)} correlated genotype with stature in 13 Japanese and 4 European nonmosaic adult male patients with partial Yq deletion. In 14 patients in whom the region between DYS11 and DYS246 was preserved stature was considered normal: 11 Japanese, 165-180 cm; 3 Europeans, 165-173 cm. The remaining 3 patients in whom this region was deleted had short stature: 2 Japanese, both 159 cm; 1 European, 157 cm. The results suggested that the region defined by DYS11 at interval 5C and by DYS246 at interval 5D may be the critical region for the Y-specific growth gene(s).\n\n{7:Kirsch et al. (2000)} studied 9 adult patients with Yq- karyotype-chromosomal abnormalities. They demonstrated that all patients with a previously defined pure 46,XYq- karyotype were actually mosaics with cells containing an isodicentric(Y) or ring(Y) chromosome in association with 45,X0 cells. Molecular analyses of chromosomes from patients with interstitial Yq deletions established the critical region for the GCY gene as the 2-Mb interval between DYZ3 and DYS11.\n\nTo determine whether CYP19 gene ({107910}) or Y chromosome loci are associated with variation in height, {6:Ellis et al. (2001)} performed an association study using common biallelic polymorphisms in CYP19 and the Y chromosome in 413 adult males and 335 females drawn at random from a large population sample. An association between CYP19 and height was found that was more evident in men than in women. An association was also found with the Y chromosome. Additionally, when men were grouped according to haplotypes of the CYP19 and Y chromosome polymorphisms, a difference of 4.2 cm was detected. The authors concluded that in men, genetic variation in CYP19 and on the Y chromosome are involved in determining normal adult height, and that these loci may interact in an additive fashion.\n\nStudying 9 individuals with deletions on the Y chromosome, 2 of whom were of short stature, {8:Kirsch et al. (2002)} restricted the GCY critical region to a 700-kb region between markers SKY8 and DYS11 (sY83)." +489000,"{2:Mitchell et al. (1991)} and {1:Kay et al. (1991)} demonstrated homology of a candidate spermatogenesis gene on the mouse Y chromosome to the UBE1 gene on the X chromosome ({314370}). {2:Mitchell et al. (1991)} reported the isolation of a new testis-specific gene, Sby, mapping to the DNA deleted from the Sxr (sex-reversed) region in the mouse. It showed extensive homology to UBE1. Because of its critical role in nuclear DNA replication, together with the testis-specific expression, it was considered a candidate for the spermatogenic gene Spy, which was known to be required for the survival and proliferation of A spermatogonia during spermatogenesis. {1:Kay et al. (1991)} isolated part of the mouse A1s9 gene, mapped it to the proximal portion of the X chromosome, and showed that it undergoes normal X-inactivation. They also detected 2 copies of the gene on the short arm of the mouse Y chromosome, A1s9Y1 and A1s9Y2. They found that A1s9Y1 is expressed in testis and is lost in the deletion form of Sxr. A1s9X is similar to the Zfx gene ({314980}), which undergoes X-inactivation, yet has homologous sequences on the short arm of the Y chromosome that are expressed in the testis. These Y-linked genes may form part of a coregulated group of genes that function during spermatogenesis.\n\nThe mammalian subclass Theria consists of infraclasses Metatheria (marsupials) and Eutheria ('placentals') which diverged from each other 120-150 million years ago. Both infraclasses have Y-chromosome-dependent testis determination and SRY sequences ({480000}) functioning as the primary testis-determining factor. Some Y-linked genes in eutherians are autosomal in metatherians, e.g., Zfy, a gene encoding a transcription factor of the zinc finger type ({490000}). {3:Mitchell et al. (1992)} demonstrated that marsupials carry on the Y chromosome a homolog of Ube1y (formerly Sby or A1s9Y1), a candidate for the mouse spermatogenesis gene Spy. The extreme conservation of Y linkage indicates that Ube1y plays a critical role in male development; it may be necessary for the completion of the initial mitotic stages of spermatogenesis." +500000,"Histiocytoid cardiomyopathy, which was initially described by {8:Voth (1962)}, goes by various names, including infantile xanthomatous cardiomyopathy ({4:MacMahon, 1971}), focal lipid cardiomyopathy ({2:Bove and Schwartz, 1973}), oncocytic cardiomyopathy ({7:Silver et al., 1980}), infantile cardiomyopathy with histiocytoid change ({3:Ferrans et al., 1976}), and foamy myocardial transformation of infancy ({9:Yatani et al., 1988}). The disorder is a rare but distinctive entity of infancy and childhood characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest, and the clinical course is usually fulminant, sometimes simulating sudden infant death syndrome ({1:Andreu et al., 2000})." +500008,"Mutations in mitochondrial DNA (mtDNA) have been found to be associated with nonsyndromic sensorineural hearing loss. Matrilineal relatives within and among families carrying certain pathogenic mitochondrial mutations exhibit a wide range of penetrance, severity, and age of onset of hearing loss, indicating that the mitochondrial mutations by themselves are not sufficient to produce a deafness phenotype. Modifier factors, such as nuclear and mitochondrial genes, or environmental factors, such as exposure to aminoglycosides, appear to modulate the phenotypic manifestations (summary by {10:Tang et al., 2007})." +500009,"Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by {4:Mimaki et al., 2010}).\n\nSee also transient infantile liver failure (LFIT; {613070}), which is a similar disorder." +500011,"MLASA3 is a severe mitochondrial disorder with early infantile presentation of transfusion-dependent sideroblastic anemia in the setting of failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay (summary by {1:Burrage et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of MLASA, see MLASA1 ({600462})." +500013,"Mitochondrial form of axonal Charcot-Marie-Tooth disease-1 (CMTMA1) is inherited only through the maternal line. The disorder is characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur. Upper limb involvement often develops with time, and affected individuals have weakness and atrophy of the intrinsic hand muscles. Other features may include distal sensory impairment, foot deformities, scoliosis, hypo- or hyperreflexia, spastic paraparesis, and neurogenic bladder. Electrophysiologic studies are compatible with an axonal sensorimotor peripheral neuropathy, and muscle and nerve biopsy show evidence of mitochondrial dysfunction with decreased activities of respiratory complexes, mtDNA deletions, and mitochondrial hyperplasia (summary by {1:Fay et al., 2020})." +502000,"Progressive damage to mitochondrial DNA (mtDNA) during life is thought to contribute to aging processes. This notion is supported by the observation of an aging-related accumulation in human mtDNA of oxidative and alkylation derivatives of nucleotides, of small deletions and insertions, and of large deletions, although their low frequency raises questions about their functional significance ({10:Michikawa et al., 1999})." +520000,"Maternally inherited diabetes-deafness syndrome (MIDD) is a mitochondrial disorder characterized by onset of sensorineural hearing loss and diabetes in adulthood. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms ({4:Ballinger et al., 1992}; {12:Reardon et al., 1992}; {7:Guillausseau et al., 2001}).\n\nThe association of diabetes and deafness is observed with Wolfram syndrome (see {222300}), Rogers syndrome ({249270}), and Herrmann syndrome ({172500}), but all 3 of these disorders have other clinical manifestations." +535000,"LHON presents in midlife as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with many missense mutations in the mtDNA that can act autonomously or in association with each other to cause the disease. The 18 allelic variants are MTND6*LDYT14459A ({516006.0002}); MTND4*LHON11778A ({516003.0001}); MTND1*LHON3460A ({516000.0001}); MTND6*LHON14484C ({516006.0001}); MTCYB*LHON15257A ({516020.0001}); MTCO3*LHON9438A ({516050.0001}); MTCO3*LHON9804A ({516050.0002} ); MTND5*LHON13730A ({516005.0002}); MTND1*LHON4160C ({516000.0002}); MTND2*LHON5244A ({516001.0002}); MTCOI*LHON7444A ({516030.0001}); MTND1*LHON3394C ({516000.0004}); MTND5*LHON13708A ({516005.0001}); MTCYB*LHON15812A ({516020.0002}); MTND2*LHON4917G ({516001.0001}); MTND1*LHON4216C ({516000.0003}); MTND1*LHON4136G ({516000.0002}); MTATP6*LHON9101C ({516060.0003}); MTND4L*LHON10663C ({516004.0002}). The first 17 of these variants are summarized in Table M1, MIM12.\n\nAs pointed out by {98:Riordan-Eva and Harding (1995)}, although the plethora of mtDNA mutations identified in families with LHON had resulted in confusion as to the pathogenic significance of each mutation, it had been established that the 3 primary mutations at basepairs 11778 ({516003.0001}), 3460 ({516000.0001}), and 14484 ({516006.0001}) are present in at least 90% of families. The correlation between the 14484 mutation and a good visual prognosis provides not only hope for affected patients, but also an approach for further research into the pathogenesis of LHON.\n\n{130:Yu-Wai-Man et al. (2009)} provided a detailed review of LHON and autosomal dominant optic atrophy (OPA1; {165500}), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders." +540000,"MELAS syndrome, comprising mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with a variable clinical phenotype. The disorder is accompanied by features of central nervous system involvement, including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting ({26:Pavlakis et al., 1984}; {21:Montagna et al., 1988}).\n\nOther mitochondrial encephalomyopathies include Leigh syndrome (LS; {256000}), Kearns-Sayre syndrome (KSS; {530000}), MERRF syndrome ({545000}), and Leber optic atrophy ({535000})." +553000,"Oncocytomas are usually benign tumors that occur in various organs but particularly in the kidneys. Histologic evaluation of renal oncocytomas shows that they are composed entirely of peculiar epithelial cells with granular eosinophilic cytoplasm. Ultrastructural characterization exhibits densely packed cells with mitochondria, which show morphologic differences from those in normal cells. On the average they are larger than those in renal carcinoma cells and their shape is abnormal (summary by {6:Welter et al., 1989})." +580000,"The mechanism of ototoxicity of aminoglycosides is thought to be interference with the production of ATP in the mitochondria of hair cells in the cochlea ({1:Akiyoshoi et al., 1976}). The aminoglycosides include kanamycin, gentamicin, tobramycin, and neomycin in addition to streptomycin." +600002,"Eiken syndrome (EKNS) is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Type A1 brachydactyly (see {112500}), supernumerary epiphyses of proximal phalanges and metacarpals, and failure of eruption of primary teeth have also been described. Defining radiologic features include delayed ossification of epiphyses and primary ossification centers of short tubular bones, modeling abnormalities of tubular bones, and angel-shaped phalanges ({3:Jacob et al., 2019}).\n\nSee {603740} for a disorder with similar radiologic features." +600020,"The MAD ({600021}) and MXI1 genes encode basic helix-loop-helix leucine zipper transcription factors that bind MAX ({154950}) in vitro, forming a sequence-specific DNA-binding complex similar to the MYC-MAX heterodimer. MXI1 and MAD may antagonize MYC function and are candidate tumor suppressor genes ({3:Edelhoff et al., 1994})." +600057,"Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia ({1:Gearhart and Jeffs, 1998}). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780.\n\n{3:Martinez-Frias et al. (2001)} emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex ({258040}). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.\n\n{5:Reutter et al. (2016)} reviewed the epidemiology, potential mechanisms, and animal models for BEEC. They described BEEC as a spectrum of component malformations of variable severity, including epispadias as the mildest phenotype and classic bladder exstrophy as the most common, with cloacal exstrophy representing the most severe form. In approximately one-third of cases, urologic malformations are present, including ectopic kidney, renal agenesis, and/or hydronephrosis. Other malformations involving the gastrointestinal, skeletal, spinal, and genitourinary systems, including cryptorchidism and ambiguous genitalia, are reported frequently. The authors noted that cloacal exstrophy is considered by some to have a different embryologic origin from classic bladder exstrophy." +600072,"Fatal familial insomnia is a prion disorder showing autosomal dominant inheritance. It is clinically characterized by insomnia with or without a diurnal dreaming state, hallucinations, delirium, and dysautonomia preceding motor and cognitive deterioration. FFI is specifically associated with the asp178-to-asn mutation of the PRNP gene (D178N; {176640.0010}) when the amino acid at position 129 is methionine (M129V; {176640.0005}). The D178N mutation and the val129 allele results in Creutzfeldt-Jacob disease (CJD; {123400}) (see {176640.0007}) ({5:Goldfarb et al., 1992}). CJD typically presents with dementia, ataxia, myoclonus, and other abnormal movements; however, there is considerable clinical and pathologic overlap between FFI and CJD, and some individuals with D178N and met129 may present with a phenotype suggestive of CJD. Thus, FFI and CJD may be viewed as extremes of a phenotypic spectrum (summary by {24:Zarranz et al., 2005})." +600080,"{3:Lardi et al. (1994)} described 3 Saudi sibs, 2 girls and a boy, with clinical features of chronic myelocytic leukemia in early infancy. Their parents were first cousins. Peripheral blood counts of the parents and available relatives were normal and there was no family history of leukemia. A familial form of CML ({608232}) that closely resembles the juvenile type, which lacks the Philadelphia chromosome, had previously been reported in at least 3 family sets ({1:Anderson, 1951}; {2:Holton and Johnson, 1968}). The Philadelphia chromosome was absent in all 3 children reported by {3:Lardi et al. (1994)}. The short survival of the first 2 children (18 and 2 months, respectively) favored a diagnosis of leukemia rather than leukemoid reaction. The possibility of viral or other infection being responsible for familial clustering was mentioned." +600081,"Vitamin D hydroxylation-deficient rickets type 1B (VDDR1B) is caused by a defect in vitamin D 25-hydroxylation ({5:Molin et al., 2017}). The major function of vitamin D is to maintain calcium and phosphate levels in the normal range to support metabolic functions, neuromuscular transmission, and bone mineralization. Disorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia (summary by {4:Liberman and Marx, 2001})." +600082,"Benign prostatic hyperplasia (BPH) refers to the nonmalignant growth of the prostate gland, and is histologically defined as hyperplasia of the prostate gland. BPH is an age-related phenomenon in men beginning at about age 40 years. BPH may result in prostatic enlargement and clinical symptoms most commonly affecting the lower urinary tract. These symptoms may be obstructive, including hesitancy, weak flow, and urinary retention, or irritative, including increased frequency and urgency. However, not all men with histologic BPH will develop prostatic enlargement or urinary symptoms (review by {2:Roehrborn, 2005})." +600089,"{2:Blum et al. (1993)} described a newborn with congenital absence of the insulin-producing beta cells from otherwise normal-appearing pancreatic islets, causing insulin-dependent diabetes mellitus. The infant also had methylmalonic acidemia ({251000}) and died 16 days after birth. By serotyping of the HLA antigens, DNA typing of HLA-B and HLA class II loci, and study of polymorphic DNA markers of chromosome 6, {1:Abramowicz et al. (1994)} demonstrated that the infant had paternal uniparental isodisomy involving at least a 25-cM portion of chromosome 6 that encompasses the MHC. The methylmalonic acidemia was easily explained by duplication of the mutant gene on chromosome 6 inherited from the carrier father. The agenesis of beta cells and consequent insulin-dependent diabetes mellitus suggested the existence of a gene on chromosome 6 involved in beta-cell differentiation. Permanent insulin-dependent diabetes mellitus is very rare in the neonatal period. {1:Abramowicz et al. (1994)} stated that 31 well-documented cases had been published (see {3:Dorchy et al., 1974}). In most, the pathogenesis is unknown. A very early presentation of autoimmune destruction, which is the most common cause of insulin-dependent diabetes mellitus, had never been irrefutably demonstrated. Rare causes such as aplasia of the pancreas ({260370}, {600001}) and absence of the islets of Langerhans ({304790}) had been reported. {1:Abramowicz et al. (1994)} stated that isolated absence of the beta cells had been shown in one case. Presumably, the disorder is an autosomal recessive." +600092,"Nivelon-Nivelon-Mabille syndrome (NNMS) is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia ({1:Abdel-Salam et al., 2019})." +600110,"Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects ({1:Bernstein et al., 2001}; {7:Maugeri et al., 2004})." +600117,"Autosomal dominant inheritance was suggested by {1:Billard et al. (1994)} as the basis of some cases of developmental dysphasia. This disorder is characterized by a specific and severe delay in the development of spoken language. This results in impaired or completely absent language in a normal social environment without other abnormalities such as mental retardation, emotional or communication disabilities, deafness, cerebral palsy, or brain lesions on CT scan. A genetic component had been suggested because of similarities with dyslexia ({127700}) where a genetic basis had been recognized for many years. Family studies ({3:Gopnik, 1990}; {4:Hurst et al., 1990}) and a twin study ({2:Borges-Osorio and Salzano, 1985}) have been reported. {1:Billard et al. (1994)} reported on 6 families. Four generations were affected in 1, 3 generations in 2, and 2 generations in the other 3. Five of the 6 families had instances of male-to-male transmission. The coexistence in the same family of completely normal and severely impaired sibs suggested a genetic rather than a familial socio-linguistic cause.\n\nSee SPCH1 ({602081}) for discussion of a similar disorder." +600118,"Warburg Micro syndrome-1 (WARBM1) is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by {11:Morris-Rosendahl et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Warburg Micro Syndrome\n\nWarburg Micro syndrome-2 (WARBM2; {614225}) is caused by mutation in the RAB3GAP2 gene ({609275}) on chromosome 1q41. WARBM3 ({614222}) is caused by mutation in the RAB18 gene ({602207}) on chromosome 10p12. WARBM4 ({615663}) is caused by mutation in the TBC1D20 gene ({611663}) on chromosome 20p13.\n\n{8:Handley et al. (2013)} provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, {8:Handley et al. (2013)} stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap." +600121,"Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by {8:Wanders and Waterham, 2005}). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP3 is classified as a single peroxisome enzyme deficiency ({9:Waterham and Ebberink, 2012}).\n\nFor a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}." +600123,"{1:Houlston et al. (1994)} described male and female sibs born of healthy nonconsanguineous Caucasian parents, with a combination of malformations that included atrioventricular septal defect, blepharophimosis, and anal and radial defects. The boy was the second born of a 32-year-old mother and 36-year-old father. Atrioventricular septal defect and tetralogy of Fallot were detected immediately after birth and corrected surgically. Blepharophimosis, convergent squint, up-slanting palpebral fissures, small simple ears, and micrognathia were noted. Fifth finger clinodactyly was present and the anus was anteriorly placed. The second affected child was born 2 years later. She had a secundum type atrial septal defect and a tiny ventricular septal defect. Blepharophimosis was more pronounced than in case 1 and microphthalmia was present. The ears were simple and cup-shaped. In the right forearm the radius was aplastic, the ulna was shortened, and the first metacarpal and thumb were absent. On the left there was a vestigial thumb represented only by soft tissue. The anus was imperforate and there was a rectovaginal fistula. {1:Houlston et al. (1994)} listed various reasons for concluding that the disorder in these sibs is distinct from that in several other syndromes with overlapping manifestations. The inheritance is presumably autosomal recessive." +600131,"Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; {600669}), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge (SWD) on EEG. Seizure onset occurs between 3 and 8 years of age and seizures generally occur multiple times per day. About 70% of patients experience spontaneous remission of seizures, often around adolescence. There are no structural neuropathologic findings in patients with ECA ({3:Crunelli and Leresche, 2002}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Childhood Absence Epilepsy\n\nThe ECA1 locus has been mapped to chromosome 8q24; see also EIG1 (see {600669}), which also maps to 8q24.\n\nSusceptibility to the development of childhood absence epilepsy may be conferred by variation in several genes: ECA2 (see {607681}), conferred by variation in the GABRG2 gene ({137164}) on chromosome 5q31.1; ECA4 ({611136}), conferred by variation in the GABRA1 gene ({137160}) on chromosome 5q34; ECA5 ({612269}), conferred by variation in the GABRB3 gene ({137192}) on chromosome 15q12; and ECA6 (see {611942}), conferred by variation in the CACNA1H gene ({607904}) on chromosome 16p13.\n\nSee EIG11 ({607628}) for discussion of a locus previously designated ECA3 on chromosome 3q26." +600138,"Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment.\n\nFor a discussion of genetic heterogeneity of RP, see {268000}." +600142,"Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is a nonhypertensive cerebral small vessel arteriopathy characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade (summary by {5:Hara et al., 2009})." +600143,"The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles ({7:Mole et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730})." +600145,"Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant ({7:Chatkupt et al., 1994}). {26:Welch and Aterman (1984)} gave a population frequency of 0.14%.\n\nCaudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus ({222100}) ({17:Lynch et al., 2000}).\n\nSee also Currarino syndrome ({176450}), a similar disorder caused by mutation in the HLXB9 gene ({142994}) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: {17:Lynch et al. (2000)} stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. {16:Kochling et al. (2001)} found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa.\n\nSee also spina bifida ({182940}), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related." +600151,"BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise ({8:Young et al., 1998}; {5:Ghadami et al., 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +600155,"The disorder described by {5:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}." +600156,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}." +600159,"{3:Khalifa and Graham (1994)} described what they considered to be a previously undescribed pterygium colli/mental retardation syndrome. The proband was the offspring of a 30-year-old mother and a 56-year-old father. Delivery at 38 weeks' gestation was by cesarean section because of cephalopelvic disproportion. At birth he had severe webbing of the neck, edema of the dorsum of the hands and feet, and hypotonia. The mother was noted to have webbing of the neck. Their chromosomes were normal. At the age of 18 years, height and head circumference were at the 50th percentile. Craniofacial abnormalities included brachycephaly, epicanthus inversus, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears. The digits were remarkable for proximally displaced small thumbs, widened interphalangeal joints, and broad terminal phalanges. The mother had similar but less severe manifestations. {3:Khalifa and Graham (1994)} concluded that this disorder was different from Noonan syndrome ({163950}) because of the normal stature and different from the pterygium/mental retardation syndrome ({177980}) described by {2:Haspeslagh et al. (1985)} because of the normal stature and the differences in craniofacial anomalies. It was also different from the isolated pterygium colli ({177990}) described by {1:Graham and Smith (1981)}. They suggested that the inheritance was either X-linked dominant or autosomal dominant." +600165,"Autosomal dominant nanophthalmos is characterized by a small eye, as indicated by short axial length, high hyperopia, high lens/eye volume ratio, and a high incidence of angle-closure glaucoma (summary by {3:Othman et al., 1998}).\n\n<Subhead> Genetic Heterogeneity of Nanophthalmos\n\nNanophthalmos-1 (NNO1) has been mapped to chromosome 11p. Nanophthalmos-2 (NNO2; {609549}) is caused by mutation in the MFRP gene ({606227}) on chromosome 11q23. Nanophthalmos-3 (NNO3; {611897}) has been mapped to chromosome 2q11-q14. Nanophthalmos-4 (NNO4; {615972}) is caused by mutation in the TMEM98 gene ({615949}) on chromosome 17q11." +600166,"Primary hyperparathyroidism due to water clear cell hyperplasia (WCCH) shows a strong association with blood group O ({2:Tisell et al., 1981}). {1:Hedbaeck and Oden (1994)} compared the blood groups of 32 cases of WCCH with those of 2 control groups, one with primary hyperparathyroidism due to other causes and the other with the population in a geographically defined area of Sweden. The blood group distribution differed between the 2 control groups, but the findings in the patients with WCCH differed with high significance (P = 0.00040). This association was thought to be by far the strongest association with the ABO system demonstrated to date." +600176,"This autosomal recessive neurodevelopmental disorder is characterized by pachygyria, mental retardation, seizures, and diffuse localization of arachnoid cysts. It most likely represents a neuronal migration disorder within the lissencephaly spectrum (summary by {2:Guzel et al., 2007})." +600193,"Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS ({1:Hughes et al., 1994}). WS type 2B (WS2B) maps to chromosome 1p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580})." +600195,"Cutaneomucosal venous malformation (VMCM) is an uncommon, heritable form of venous malformation in which lesions tend to be multifocal and small. They are composed of grossly dilated vascular spaces lined by a single continuous layer of endothelial cells, with areas of relative lack of surrounding mural cells, suggesting a defect in their recruitment. Some VMCM patients have venous malformations located in internal organs, and some have additional anomalies, including cardiac malformations (summary by {11:Wouters et al., 2010}).\n\nAnother form of autosomal dominant venous malformation, blue rubber bleb nevus ({112200}), is of uncertain relationship to VMCM. Multiple cerebrovenous anomalies without cutaneous lesions are also familial; see cerebral cavernous malformations ({116860}). Glomuvenous malformations ({138000}) are similar to but clinically distinguishable from VMCMs." +600202,"For a phenotypic description and a discussion of genetic heterogeneity of susceptibility loci for dyslexia, see DYX1 ({127700})." +600204,"Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease. Onset of the disorder is usually in childhood (summary by {4:Jackson et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of EDM, see EDM1 ({132400})." +600209,"For a phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see ({133700})." +600223,"For a discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400}).\n\nSee also 16q22-linked spinocerebellar ataxia (SCA31; {117210}), which is caused by an insertion within an intron of the BEAN gene ({612051}). Although both types of SCA map to the same region, they have different phenotypes. SCA4 with sensory axonal neuropathy has not been associated with any specific gene mutations, but {1:Edener et al. (2011)} excluded the insertion in the BEAN gene as causative for SCA4, indicating that SCA31 and SCA4 are not allelic disorders." +600224,"For a general discussion of autosomal dominant spinocerebellar ataxia (SCA), see SCA1 ({164400})." +600231,"Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. {2:Lind et al. (1994)} described an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia, which has a high prevalence of 0.3 to 0.55% in the 2 northernmost provinces of Sweden, situated to the west and the northwest of the Gulf of Bothnia. The Bothnian form is frequently complicated by fungal infections and lacks the histopathologic features distinctive of epidermolytic PPK ({144200}).\n\nFor discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK ({144200})." +600251,"Oblique facial clefts are a rare form of orofacial clefting, comprising about 0.25% of all facial clefts. Two major types have been described classically: nasoocular and oroocular, the latter of which can be subdivided into oromedial-canthal and orolateral-canthal (summary by {1:Dasouki et al., 1988})." +600252,"{4:Lowry and MacLean (1977)} reported the case of a 29-month-old Caucasian girl with mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis, and growth failure. {2:Cohen (1978)} dubbed this cleft syndrome as Lowry-MacLean syndrome and classified it as a previously unreported multiple congenital anomalies-mental retardation (MCA/MR) syndrome. {3:Kousseff and Ranells (1994)} described an African American boy with multiple congenital anomalies and developmental delay from birth. Meconium staining, unusual facial appearance, and multiple congenital anomalies were noted at birth. Like the patient reported by {4:Lowry and MacLean (1977)}, the second patient had intrauterine growth retardation, microcephaly, craniosynostosis, glaucoma, cleft palate, delayed dentition, preauricular tag/pit, beaked nose, congenital heart defect, and developmental delay. Chromosomes were normal. The genetic basis of this seemingly distinctive syndrome is unclear. It may be due to an autosomal dominant mutation.\n\n{1:Al-Torki et al. (1997)} described the disorder in a father and daughter in a Kuwaiti Bedouin family. The proposita was born at 39 weeks' gestation after an uneventful pregnancy to nonconsanguineous parents. The 25-year-old father had bilateral congenital glaucoma that led to blindness despite surgery. A paternal aunt also had congenital glaucoma. The proposita had congenital heart disease (via ventricular septal defect and coarctation of the aorta). She also had congenital microcephaly, developmental delay, growth failure, clinically evident craniosynostosis, and Crouzon-like facial appearance. She also had osteoporosis." +600263,"Helicobacter pylori is a microaerophilic, gram-negative bacterium that colonizes the gastric mucosa of approximately 50% of the world's population, and is a primary pathogenic factor in benign and malignant gastroduodenal disease ({21:Warren and Marshall, 1983}; {1:Blaser and Parsonnet, 1994}). {20:Tomb et al. (1997)} reported the complete sequence of the circular genome of H. pylori. The 1,667,867-bp genome contains 1,590 predicted coding sequences (genes). Sequence analysis of these genes indicated that the organism has systems for motility, for scavenging iron, and for DNA restriction and modification. Its survival in acid conditions depends, in part, on its ability to establish a positive inside-membrane potential in low pH." +600268,"Oculoectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals exhibit congenital scalp lesions which are atrophic, nonscarring, hairless regions that are often multiple and asymmetric in distribution, and may have associated hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and, rarely, epidermal nevus-like lesions. Epibulbar dermoids may be uni- or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid and rarely optic nerve or retinal changes or microphthalmia can be present. Phenotypic expression is highly variable, and various other abnormalities have occasionally been reported, including growth failure, lymphedema, and cardiovascular defects, as well as neurodevelopmental symptoms such as developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older (summary by {3:Boppudi et al., 2016})." +600269,"{1:Lopes et al. (1994)} described a Brazilian family in which members of 4 generations showed absence of the lower eyelashes associated with thin and short upper tarsus, normal upper eyelashes, and hypoplastic lower eyelids with short and small tarsus. There were a few short, thin, and light-colored lower eyelashes visible only on biomicroscopy. {1:Lopes et al. (1994)} suggested the designation short tarsus--absence of lower eyelashes (STALE) and raised the question of similarity to the findings in a father and son reported by {2:Traquair (1912)}. Autosomal dominant inheritance seemed quite clear from the presence of 5 instances of male-to-male transmission." +600274,"Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; {105400}) (reviews by {47:Tolnay and Probst, 2002} and {32:Mackenzie and Rademakers, 2007}). {30,31:Mackenzie et al. (2009, 2010)} provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below).\n\n<Subhead> Clinical Variability of Tauopathies\n\nTauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology ({47:Tolnay and Probst, 2002}). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) ({56:Wszolek et al., 1992}); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) ({29:Lynch et al., 1994}); frontotemporal dementia with parkinsonism (FLDEM) ({57:Yamaoka et al., 1996}); and multiple system tauopathy with presenile dementia (MSTD) ({46:Spillantini et al., 1997}). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.\n\nOther neurodegenerative associated with mutations in the MAPT gene include Pick disease ({172700}) and progressive supranuclear palsy (PSP; {601104}),\n\nInherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' ({28:Lee et al., 2001}).\n\n{25:Kertesz (2003)} suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.\n\n<Subhead> Genetic Heterogeneity of Frontotemporal Lobar Degeneration\n\nMutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions ({607485}), caused by mutation in the GRN gene ({138945}) on chromosome 17q21; FTLALS7 ({600795}), caused by mutation in the CHMP2B gene ({609512}) on chromosome 3p11; inclusion body myopathy with Paget disease and FTD (IBMPFD; {167320}), caused by mutation in the VCP gene ({601023}) on chromosome 9p13; ALS6 ({608030}), caused by mutation in the FUS gene ({137070}) on 16p11; ALS10 ({612069}), caused by mutation in the TARDBP gene ({605078}) on 1p36; and FTDALS1 ({105550}), caused by mutation in the C9ORF72 gene ({614260}) on 9p21.\n\nIn 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; {104311}) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; {607822})." +600318,"For a general phenotypic description of type 1 diabetes mellitus, see T1D ({222100})." +600325,"The pseudoaminopterin syndrome (aminopterin syndrome sine aminopterin; ASSA) is a multiple congenital anomaly disorder characterized by ossification defects of the skull, dysmorphic facial features, delayed development, and variable limb defects. The clinical features resemble the embryopathy caused by maternal treatment with the folic acid antagonist aminopterin, which has been recognized since 1952 ({9:Thiersch, 1952}) when aminopterin was used as an abortifacient. The characteristic phenotype of the children who survived infancy after having been exposed to aminopterin or its methyl derivative, methotrexate, in early pregnancy included a very unusual facies, skull anomalies, and skeletal defects (summary by {4:Fraser et al., 1987})." +600331,"{1:Verloes et al. (1990)} described a possibly new autosomal dominant syndrome that combined poikiloderma, alopecia, retrognathism, and cleft palate--the PARC syndrome. The family came to attention with the birth of a son who had striking alopecia with absent eyebrows and eyelashes, as well as absent lanugo of other parts of the skin except the scalp. The infant had severe microretrognathism and median posterior cleft palate without glossoptosis. The father, aged 32 years, was in good health and of normal height, but had retrognathism with overbite but no palatal defect. He was almost completely bald." +600332,"For a phenotypic description and a discussion of genetic heterogeneity of rippling muscle disease, see RMD2 ({606072})." +600333,"{1:Komachi et al. (1994)} described what they believed to be a distinct autosomal recessive disorder in a 60-year-old woman, the product of a cousin mating, who presented with subacute progressive motor neuron disease and mild ophthalmoparesis and dementia. The ophthalmoplegia was mild but developed within 5 months of the onset of bulbar signs and arm weakness. There was no upward gaze, although oculocephalic reflexes were preserved until 1 month before death. There was moderate limitation of downward and leftward gaze. The electroencephalogram demonstrated diffuse slowing without paroxysmal discharge. The CT scan demonstrated considerable atrophy of the frontal lobe and midbrain. The patient succumbed to respiratory failure 13 months after the onset of motor neuron disease. The autopsy demonstrated moderate neuronal loss in the anterior horn cells, as well as pallor of the corticospinal tracts. There were typical Bunina bodies and a few ubiquitin-positive bodies. In the cerebrum, there was moderate laminar spongiosis and astrocytosis in layer II of the frontal cortex. There were no senile plaques, tangles, Pick bodies, or Lewy bodies. Direct sequencing of the prion protein open reading frame did not disclose a mutation. {1:Komachi et al. (1994)} commented that abnormal ocular movements are unusual in motor neuron disease, although ophthalmoplegia had developed at a late stage in some previously reported cases. Motor neuron disease with dementia has been reported, but ophthalmoplegia was absent in those patients. Amyotrophy, dementia, and intranuclear ophthalmoplegia have been reported in partial deficiencies of hexosaminidase A ({606869}), but {1:Komachi et al. (1994)} did not examine this enzyme in their patient. Motor neuron disease, ophthalmoplegia, and dementia have been observed in a number of autosomal dominant olivopontocerebellar atrophies, notably spinocerebellar atrophy type II ({183090}) and Machado-Joseph disease ({109150})." +600343,"Polycystic dysgenetic disease of the parotid gland (PDDP) is a rare benign condition of the parotid gland. The disorder presents often in childhood or young adulthood, but may occur later in life. It occurs most commonly in females. Features include fluctuating and nontender swelling of the parotid gland bilaterally, without defects in salivary function. Histology shows replacement of the lobular portion of the parotid gland by multiple epithelial-lined cysts arising from the intercalated ducts. The cysts often contain altered salivary secretions, including spheroliths or microliths; eosinophilic congophilic deposits have also been described. Chronic inflammation is not present. The condition is thought to result from a developmental defect of the intercalated duct system. Surgery may be indicated for diagnosis or for cosmetic reasons (summary by {11:Smyth et al., 1993}; {6:Layfield and Gopez, 2002}; {4:Eley et al., 2011})." +600356,"Pachydermodactyly is a distinct form of digital fibromatosis characterized by asymptomatic bulbous, soft-tissue swelling around the proximal phalanges and/or proximal interphalangeal joints of the hands ({1:Curley et al., 1991}; {3:Reichert et al., 1985}). {4:Russo et al. (1994)} reported the disorder in a mother and daughter. They stated that only 15 cases had been reported previously, all with a negative family history. Only one of the previously reported cases was a woman ({2:Draluck et al., 1992})." +600361,"Hereditary motor and sensory neuropathies (HMSN) are a heterogeneous group of peripheral nervous system disorders affecting motor and sensory function. HMSN I, also known as Charcot-Marie-Tooth (CMT) disease, or peroneal muscular atrophy, type 1, is a demyelinating neuropathy (see CMT1B; {118200}) and HMSN II, also known as CMT type 2, is an axonal neuropathy (see CMT2A1; {118210}). See also HMSN III ({145900}) and HMSN IV ({266500}).\n\nFor an autosomal recessive disorder with similarities to HMSN V, see {607731}." +600373,"CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by {6:Strauss et al., 2015})." +600383,"The Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, congenital heart disease, and ureteral anomalies (summary by {2:Isidor et al., 2009}).\n\nMesomelia and synostoses are also cardinal features of the Kantaputra type of mesomelic dysplasia ({156232})." +600416,"{1:Jardine et al. (1994)} described 7 affected individuals, 3 men and 4 women, in a 2-generation family segregating a scapulohumeral muscular dystrophy. Weakness began in the shoulders between 12 and 40 years of age. There was no distal weakness in the upper or lower extremities and there were no sensory abnormalities. In several cases, there was marked asymmetry with weakness on the right side more than on the left. There was no demonstrable facial weakness in any of the affected individuals. Male-to-male transmission was not observed. There was only minimal elevation of creatine kinase in some individuals. Electromyography demonstrated low amplitude, short duration, and polyphasic units. Muscle biopsy demonstrated excessive variation of muscle fiber size and scattered fibers with internal nuclei, but there was no fiber type grouping on ATPase preparations. There were no contractures or dysarthria, distinguishing this syndrome from autosomal dominant limb-girdle dystrophy ({253600}) which typically begins with symptoms in the lower extremities. The absence of cardiomyopathy and contractures distinguished this disorder from Emery-Dreifuss muscular dystrophy ({310300}; {181350}). The existence of scapuloperoneal myopathy without contractures or cardiomyopathy as a separate condition from facioscapulohumeral dystrophy (FSHD; {158900}) has been debated. {1:Jardine et al. (1994)} pointed out the features of their cases were similar to those of FSHD except for the absence of facial weakness. Minimally affected patients with FSHD are best detected by the presence of facial weakness. In 1 large study of FSHD, the facial weakness was absent in only 2 of 113 individuals ({2:Lunt and Harper, 1991}). In the family of {1:Jardine et al. (1994)}, linkage analysis with markers D4S184, D4S139, and D4F104S1 yielded a maximum lod score of 1.61 at theta = 0.01. This suggested that the locus for scapulohumeral dystrophy may be the same as that for facioscapulohumeral dystrophy." +600430,"Patients with chromosome 2q37 deletion syndrome show highly variable clinical manifestations likely resulting from different deletion sizes and deletions of different genes. Variable clinical features included brachydactyly type E (BDE), affecting the metacarpals and metatarsals (in about 50% of patients), short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features. However, many individuals with deletions do not show cognitive deficits (summary by {9:Villavicencio-Lorini et al., 2013}, {10:Wheeler et al., 2014}, {4:Jean-Marcais et al., 2015})." +600457,"{2:Tsukahara and Kajii (1992)} described a Japanese family with 7 affected members in 3 generations with anterior cervical hypertrichosis just cephalad to the laryngeal prominence. Several of these individuals repeatedly shaved their necks because of the hair growth. The hair was first noted after age 3 years. There were no other physical problems in the family except that the proposita also had Turner syndrome due to isochromosome of the long arm of the X chromosome: 46,i(Xq). {1:Braddock et al. (1995)} reported a similar case of anterior cervical hypertrichosis without other abnormalities. The father was 36 years old at the time of the girl's birth, suggesting that this might be an instance of new dominant mutation with paternal age effect. This disorder may be distinct from the anterior cervical hypertrichosis associated with peripheral neuropathy ({239840}), which has been proposed to be an autosomal recessive." +600458,"Adenomyosis is characterized by the presence of endometrial glands and stroma within the myometrium. Abnormal uterine bleeding and dysmenorrhea are the most characteristic symptoms, occurring in approximately 65% of cases ({1:Arnold et al., 1995})." +600459,"Arterial dissection occurs when blood enters a vessel wall through an intimal tear and a false lumen is formed within the media. The arteries most commonly affected by dissection are the aorta, renal artery, and extracranial internal carotid artery, in that order of frequency. A genetic predisposition to arterial dissection is supported by its familial occurrence (see {147820}; {607086}; {122455}) and its association with various heritable disorders of connective tissue, particularly the Marfan syndrome ({154700}).\n\nAmong approximately 240 patients with spontaneous cervical artery dissections seen in a 22-year period at the Mayo Clinic, {1:Schievink et al. (1995)} found 8 with a documented family history of arterial dissection. Two of these patients and their families represented instances of arterial dissection occurring at an early age and in association with multiple lentigines. Since the arterial media and melanocytes are derived from neural crest cells, {1:Schievink et al. (1995)} suggested that a neural crest defect may be the underlying abnormality in these families. The familial syndrome of arterial dissections with lentiginosis may represent an autosomal recessive disorder since 2 brothers were affected in 1 family and a brother and sister in another, the latter sibs being the progeny of parents related as half third cousins. In 1 family, a brother died suddenly of aortic dissection with rupture of the ascending aorta into the pericardium. Extensive cystic medial necrosis of the aorta was noted. His brother had surgical repair of aortic coarctation just distal to the left subclavian artery at the age of 19 years. At the age of 33 years, he suffered a left parietal lobe infarct, and stenosis due to dissection in the left internal carotid artery was demonstrated by cerebral angiography. Both brothers had numerous hyperpigmented skin lesions, mainly affecting the skin of the extremities, which were demonstrated to represent lentigines. They were of uniform size (approximately 3 mm in diameter) and dark brown to black. Some were present on the trunk and they were also found on the palms and soles. The face and mucous membranes were not involved. The skin lesions developed around the age of 2 years and increased markedly in number during adolescence. The other family was ascertained through a 24-year-old woman who, shortly after a downhill skiing accident, suffered dissection of the left cervical vertebral artery with resulting right hemiparesis and left Horner syndrome ({143000}). Six and one-half years later, 6 weeks postpartum, she had a sudden right occipital headache while breastfeeding. At the age of 25 years, 1 of her brothers developed a severe headache followed by right hemiparesis. There was no history of preceding trauma. Angiography revealed an area of smooth stenosis of the left extracranial internal carotid artery consistent with dissection. Both the brother and the sister had multiple skin lesions on the trunk and extremities, especially the lower legs. None of these patients had cafe-au-lait spots, ocular hypertelorism or deafness, and all were of normal stature.\n\nThe father in the second family reported by {1:Schievink et al. (1995)} had developed left hemiparesis at the age of 43 years and died suddenly 2 years later. Medical records were not available. He had no hyperpigmented skin lesions.\n\nLentigines are distinguished from freckles (ephelides) by their darker color, their presence in areas not exposed to the sun, the fact that they do not darken appreciably or increase in number during exposure to sun, and their relative uncommonness in red-haired and fair-skinned people. Histologically, lentigines have an increased number of melanocytes at the dermoepidermal junction and elongation of the rete ridges, whereas freckles have a normal or slightly decreased number of melanocytes and no elongation of the rete ridges. Lentiginosis is a component of Carney complex ({160980}) and of the LEOPARD syndrome ({151100}), but the other features of those syndromes indicate their distinctness from the new one described by {1:Schievink et al. (1995)}. In the arterial segments available for study in both families, cystic medial necrosis was detected by microscopic examination." +600462,"Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow ({1:Bykhovskaya et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Myopathy, Lactic Acidosis, and Sideroblastic Anemia\n\nMLASA2 ({613561}) is caused by mutation in the YARS2 gene ({610957}) on chromosome 12p11. MLASA3 ({500011}) is caused by heteroplasmic mutation in the mitochondrially-encoded MTATP6 gene ({516060})." +600467,"Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease for which MH susceptibility (MHS) is transmitted as an autosomal dominant trait. A potentially life-threatening MH crisis is triggered by exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants (summary by {1:Sudbrak et al., 1995}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 ({145600})." +600496,"MODY is a form of familial noninsulin-dependent diabetes mellitus (T2D; {125853}) and is characterized by an early age of onset (childhood, adolescence, or young adulthood under 25 years) and autosomal dominant inheritance.\n\nFor a phenotypic description and discussion of genetic heterogeneity of MODY, see {606391}." +600510,"Ocular pigment dispersion syndrome is characterized by abnormal release of iris pigment, which then accumulates within the eye, including in the trabecular meshwork, through which fluid from the eye drains. Pigment deposition is believed to increase intraocular pressure by damaging trabecular meshwork cells and decreasing aqueous humor outflow (summary by {17:van der Heide et al., 2021})." +600512,"Autosomal dominant lateral temporal lobe epilepsy is a specific form of temporal lobe epilepsy characterized by partial seizures originating from the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature (summary by {14:Winawer et al., 2000}).\n\n<Subhead> Genetic Heterogeneity of Temporal Lobe Epilepsy\n\nSee also ETL2 ({608096}), which maps to chromosome 12q; ETL3 ({611630}), which maps to chromosome 4q; ETL4 ({611631}), which maps to chromosome 9q; ETL5 ({614417}), caused by mutation in the CPA6 gene ({609562}) on chromosome 8q13; ETL6 ({615697}), which maps to chromosome 3q25-q26; ETL7 ({616436}), caused by mutation in the RELN gene ({600514}) on chromosome 7q22; and ETL8 ({616461}), caused by mutation in the GAL gene ({137035}) on chromosome 11q13." +600513,"Autosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life ({9,8:Scheffer et al., 1994, 1995}). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families ({3:Hayman et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Nocturnal Frontal Lobe Epilepsy\n\nNocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 ({603204}), which maps to chromosome 15q24; ENFL3 ({605375}), caused by mutation in the CHRNB2 gene ({118507}) on chromosome 1q21; ENFL4 ({610353}), caused by mutation in the CHRNA2 gene ({118502}) on chromosome 8p21; and ENFL5 ({615005}), caused by mutation in the KCNT1 gene ({608167}) on chromosome 9q34.\n\nNocturnal frontal lobe seizures are also observed in some patients with familial focal epilepsy with variable foci (FFEVF; {604364}), caused by mutation in the DEPDC5 gene ({614191}) on chromosome 22q12." +600546,"{4:Woods et al. (1995)} reported the case of an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. Seckel syndrome was the initial diagnosis. The infant became pancytopenic at 16 months of age and died soon thereafter. His bone marrow was of normal cellularity but had an infiltration of small lymphocytes. Increased spontaneous chromosome breakage was seen in blood and fibroblasts. Mitomycin C-induced chromosome damage was increased and comparable to that seen in Fanconi anemia. {4:Woods et al. (1995)} proposed that this infant suffered from a distinct chromosome breakage syndrome. They found at least 7 reported cases of Seckel-like intrauterine growth retardation with pancytopenia, including 2 sibs in Seckel's original publication ({2:Seckel, 1960}). Other cases were reported by {3:Upjohn (1955)} and {1:Butler et al. (1987)}. Because Seckel syndrome is likely to be heterogeneous, {4:Woods et al. (1995)} preferred to refer to the disorder they reported as 'severe intrauterine growth retardation with increased mitomycin C sensitivity.'" +600559,"{1:Devi et al. (1995)} reported the cases of 2 unrelated male infants with similar findings of communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. Both mothers reported an upper respiratory infection during the first trimester of pregnancy, which was further complicated by polyhydramnios in the third trimester. Bilateral congenital nuclear cataracts were present at birth. Serologic tests for toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, and syphilis, as well as galactosemia screen, were negative. Chromosome analyses were normal. Both children developed communicating hydrocephalus between 1 and 3 months after birth. Patient 1 died suddenly at 4 months of age following an upper respiratory infection. Patient 2 developed congestive heart failure and also died at 4 months. At autopsy, both infants had enlarged hearts with endocardial fibroelastosis. No identifiable organism could be isolated. {1:Devi et al. (1995)} favored a genetic etiology, although they admitted that viral etiology could not be excluded." +600624,"For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see {120970}." +600625,"Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril ({1:Castilla and Martinez-Frias, 1995}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip with or without cleft palate, see OFC1 ({119530})." +600630,"UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by {3:Horibata et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of UV-Sensitive Syndrome\n\nSee also UVSS2 ({614621}), caused by mutation in the ERCC8 gene ({609412}) on chromosome 5q12, and UVSS3 ({614640}), caused by mutation in the UVSSA gene ({614632}) on chromosome 4p16." +600631,"Nocturnal enuresis, or nightly bedwetting in children more than 7 years of age, affects about 10% of 7-year-old children, with a wide range of frequencies between populations. The affliction is often linked to major social maladjustments and occupies considerable time in general medical practice. From the age of 7, there is a spontaneous cure rate of 15% per year, such that few remain affected after the age of 16 years. There are 2 types of nocturnal enuresis: type I, the primary form (PNE), with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder, and type II, or secondary type, where the child has been dry for at least 6 months but enuresis has recurred (summary by {2:Eiberg et al., 1995}).\n\n<Subhead> Genetic Heterogeneity of Nocturnal Enuresis\n\nENUR1 has been mapped to chromosome 13q, and ENUR2 has been mapped to chromosome 12q." +600638,"Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 ({135700}). CFEOM2 ({602078}) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by {9:Yamada et al., 2004} and {4:Heidary et al., 2008}).\n\n{8:Yamada et al. (2003)} concluded that CFEOM3 is a relatively rare form of CFEOM.\n\n<Subhead> Genetic Heterogeneity of CFEOM3\n\nThe CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B ({135700}), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C ({609384}), which maps to chromosome 13q." +600643,"Congenital polycystic dilatation of intrahepatic bile ducts was first described by {2:Caroli et al. (1958)}. The condition is characterized by polycystic segmental dilatation of the intrahepatic bile ducts and a marked predisposition to cholangitis and liver abscess. As indicated in the discussion of infantile polycystic kidney disease ({263200}), involvement of the liver compatible with Caroli disease is seen in association with that of kidney disease and possibly also with the adult form of polycystic kidney disease. It is possible that isolated Caroli disease occurs as a genetic entity in some families.\n\n{4:Tsuchida et al. (1995)} reported a family in which a 5-year-old girl was found to have Caroli disease and investigated for recurrent episodes of fever, epigastric pain, and vomiting with associated hepatomegaly. By intravenous cholangiography, her 9-year-old brother was found at the same time to have mottled radiopacities in the liver identical to his sister's. He remained asymptomatic, however, until the age of 30 when he developed bleeding esophageal varices indicative of portal hypertension. The mother was found to have a completely normal intrahepatic biliary tree by intravenous cholangiography. The father was found by ultrasonography and CT scan to have numerous small cysts in the liver. None of the 3 had renal cysts. {4:Tsuchida et al. (1995)} suggested autosomal dominant inheritance. Two affected brothers who died at ages 40 and 33, respectively, were reported by {3:Hunter et al. (1966)}. {5:Turnberg et al. (1968)} described a 27-year-old patient whose father died of 'gastric hemorrhage' and a brother died at age 6 years with 'enlarged liver.'\n\n{1:Adeva et al. (2006)} retrospectively reviewed the clinical records, and where possible performed mutation screening of the PKHD1 gene ({606702}), in patients diagnosed with autosomal recessive polycystic kidney disease (ARPKD; {263200}) or congenital hepatic fibrosis seen at the Mayo Clinic from 1961 to 2004. Two-thirds of the patients presented after the age of 1 year, with one third after age 20 years. In this group, complications of liver disease were the most common reasons for seeking medical attention. On follow-up, symptoms associated with portal hypertension or cholangitis (in patients with Caroli disease) were the most common disease manifestations. Eight of 14 patients with MRI studies had dilated intrahepatic bile ducts consistent with Caroli disease. Although ARPKD had been generally considered an infantile disorder with typical presentation of greatly enlarged echogenic kidneys detected in utero or within the neonatal period, often resulting in neonatal demise, {1:Adeva et al. (2006)} concluded that relatively isolated congenital hepatic fibrosis and/or Caroli disease are part of the ARPKD spectrum." +600649,"Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The infantile form usually presents between 6 and 24 months of age with recurrent attacks of hypoketotic hypoglycemia causing loss of consciousness and seizures, liver failure, and transient hepatomegaly. Some children also have heart involvement with cardiomyopathy and arrhythmia. Episodes are triggered by infections, fever, or fasting. Laboratory studies usually indicate hyperammonemia, metabolic acidosis, and hypoketotic hypoglycemia with elevated levels of creatine kinase (summary by {6:Longo et al., 2006}).\n\nSee also the lethal neonatal ({608836}) and adult-onset ({255110}) forms of the disorder, which are also caused by mutation in the CPT2 gene." +600666,"Polycystic kidney disease-3, a form of autosomal dominant PKD (ADPKD), is characterized by renal cysts, often associated with liver cysts, that may lead to organ dysfunction. Affected individuals usually present in mid to late adulthood with progressive cysts in the kidney and/or liver. The renal disease is relatively mild, and only some patients develop hypertension; renal insufficiency usually does not occur. The liver disease shows a wide spectrum of severity: some patients have no cysts, whereas others have severe liver involvement (summary by {2:Porath et al., 2016}).\n\nFor a discussion of genetic heterogeneity of PKD, see PKD1 ({173900})." +600668,"For a general phenotypic description and a discussion of genetic heterogeneity of chondrocalcinosis, also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), see CCAL2 ({118600})." +600669,"Idiopathic generalized epilepsy is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA; see {600131}), juvenile absence epilepsy (JAE, EJA; see {607631}), juvenile myoclonic epilepsy (JME, EJM; see {254770}), and epilepsy with grand mal seizures on awakening ({4:Commission on Classification and Terminology of the International League Against Epilepsy, 1989}). These recurrent seizures occur in the absence of detectable brain lesions and/or metabolic abnormalities. Seizures are initially generalized with a bilateral, synchronous, generalized, symmetrical EEG discharge ({19:Zara et al., 1995}; {7:Lu and Wang, 2009}).\n\nSee also childhood absence epilepsy (ECA1; {600131}), which has also been mapped to 8q24. Of note, benign neonatal epilepsy 2 (EBN2; {121201}) is caused by mutation in the KCNQ3 gene ({602232}) on 8q24.\n\n<Subhead> Genetic Heterogeneity of Idiopathic Generalized Epilepsy\n\nEIG1 has been mapped to chromosome 8q24. Other loci or genes associated with EIG include EIG2 ({606972}) on 14q23; EIG3 ({608762}) on 9q32; EIG4 ({609750}) on 10q25; EIG5 ({611934}) on 10p11; EIG6 ({611942}), caused by mutation in the CACNA1H gene ({607904}) on 16p; EIG7 ({604827}) on 15q14; EIG8 ({612899}), caused by mutation in the CASR gene ({601199}) on 3q13.3-q21; EIG9 ({607682}), caused by mutation in the CACNB4 gene ({601949}) on 2q23; EIG10 ({613060}), caused by mutation in the GABRD gene ({137163}) on 1p36; EIG11 ({607628}), caused by variation in the CLCN2 gene ({600570}) on 3q36; EIG12 ({614847}), caused by mutation in the SLC2A1 gene ({138140}) on 1p34; EIG13 ({611136}), caused by mutation in the GABRA1 gene ({137160}) on 5q34; EIG14 ({616685}), caused by mutation in the SLC12A5 gene ({606726}) on 20q12; EIG15 ({618357}), caused by mutation in the RORB gene ({601972}) on 9q22; EIG16 ({618596}), caused by mutation in the KCNMA1 gene ({600150}) on chromosome 10q22; EIG17 ({602477}), caused by mutation in the HCN2 gene ({602781}) on chromosome 19p13.3; and EIG18 ({619521}) caused by mutation in the HCN4 gene ({605206}) on chromosome 15q24." +600670,"{1:Juel-Jensen (1987)} referred to a family he had seen in which 4 brothers had many attacks of varicella. He observed a 15-year-old brother in his second attack at the age of 15. A 19-year-old brother had also had 2 attacks; an 18-year-old brother had had 8 attacks, and a brother aged 16.5 had had 3 attacks, all of increasing severity. The parents and 2 sisters had had only a single attack of standard severity. In other respects the boys were entirely normal. Extensive investigations failed to reveal genetic or lymphocyte functional abnormalities." +600674,"Microtia-anotia (M-A) can occur either as an isolated defect or in association with other defects. Only in a minority of cases has a genetic or environmental cause been found; in these cases, M-A is usually part of a specific pattern of multiple congenital anomalies. For instance, M-A is an essential component of isotretinoin embryopathy ({243440}), is an important manifestation of thalidomide embryopathy, and can be part of the prenatal alcohol syndrome and maternal diabetes embryopathy. M-A occurs with a number of single gene disorders, such as Treacher Collins syndrome ({154500}), branchiotorenal/branchiootic syndromes (see {113650} and {602588}), oculoauricular syndrome ({612109}), microtia with hearing impairment and cleft palate ({612290}), or chromosomal syndromes, such as trisomy 18. M-A also occurs as part of seemingly nonrandom patterns of multiple defects, such as Goldenhar syndrome ({164210}) ({4:Mastroiacovo et al., 1995}).\n\n{1:Alasti and Van Camp (2009)} reviewed the genetics of microtia and microtia-associated syndromes and discussed their clinical aspects in relation to the causative genes. They stated that the estimated prevalence of microtia is 0.8 to 4.2 per 10,000 births, that it is more common in males, and that it can have a genetic or environmental predisposition." +600679,"{1:Plewes and Jacobson (1971)} described a father, his son, and 2 daughters who had frontonasal dermoid cysts. The clinical x-ray findings resembled those of a slow-growing intracranial space-occupying lesion. Plain x-ray films showed a widened nasal septum, and contrast radiology helped outline an avascular mass arising from the cribriform plate. Resection, utilizing a synchronous nasal and frontal operation, proved effective. The father had been seen at the age of 33 years with a 10-year history of epilepsy. A 'nasal cyst' had been removed some years previously, but no precise information was available on the nature of the lesion. The epileptiform attacks were nocturnal with hallucinations and postictal dysphasia. There was bilateral anosmia and early papilledema. Skull x-ray films showed translucency in the right frontal region together with erosion of the anterior clinoids. The eldest offspring, a 13-year-old boy, was first seen for complaints of recurrent episodes of nasal obstruction. A submucous resection of a septal swelling had been carried out 4 years previously when deviation of the septum to the right with a high left-sided cystic swelling was noted. X-ray films showed a widened nasal septum, maldevelopment of the right frontal sinuses, and incomplete fusion of the frontonasal process. The elder sister was seen at the age of 12 years with recent personality changes as the main reason for hospital referral. There was hypertelorism with a widened nasal bridge and small dermal sinuses just below the glabella, which had shown a white discharge intermittently throughout childhood. Apart from anosmia, no neurologic abnormality was detected. Widening of the nasal septum was easily visualized. Plain x-ray films and tomograms of the frontonasal region confirmed the presence of a wide nasal septum and showed a small defect in the midline frontally, as well as a large defect in the cribriform plate. Personality changes and memory deficits noted before surgery resolved, and anosmia remained as the only deficit. The third sib was a 9-year-old girl who was asymptomatic at the time of the report by {1:Plewes and Jacobson (1971)}, but examination showed an anosmia, widening of the nasal septum, and radiologic changes similar in most respects to those of her 2 sibs and father.\n\n{2:Samuel (1995)} provided follow-up on the family reported by {1:Plewes and Jacobson (1971)}." +600705,"Satoyoshi syndrome is a rare disorder characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea, and secondary skeletal abnormalities. The disorder is also called komuragaeri disease by the Japanese; in Japanese 'komura' means calf and 'gaeri' means 'turnover' or spasm. All cases have apparently been sporadic, even when occurring in large families ({3:Ehlayel and Lacassie, 1995})." +600720,"NOS2P1 is a nontranscribed pseudogene located near the functional NOS2 gene ({163730}) on chromosome 17 ({2:Park et al., 1997})." +600721,"D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by {3:Chalmers et al. (1980)}. Clinical symptoms include developmental delay, epilepsy, hypotonia, and dysmorphic features. Mild and severe phenotypes were characterized ({14:van der Knaap et al., 1999}). The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and, often, cardiomyopathy. The mild phenotype has a more variable clinical presentation.\n\n<Subhead> Genetic Heterogeneity of D-2-Hydroxyglutaric Aciduria\n\nD-2-hydroxyglutaric aciduria-2 (D2HGA2; {613657}) is caused by heterozygous mutation in the mitochondrial isocitrate dehydrogenase-2 gene (IDH2; {147650}) on chromosome 15q26." +600757,"For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see {119530}." +600775,"Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {2:Fitzpatrick, 2013}). Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms.\n\nFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100})." +600785,"Vitamin D-dependent rickets type 2B with normal vitamin D receptor (VDDR2B) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.\n\nVitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the vitamin D receptor gene (VDR; {601769}), and most patients have alopecia in addition to rickets.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; {264700})." +600790,"Progressive bifocal chorioretinal atrophy (PBCRA) is a rare, autosomal dominant congenital chorioretinal dystrophy. The disorder is characterized by progressive macular and nasal retinal atrophic lesions, nystagmus, myopia, and poor vision. Invariably, there are 2 distinct foci of atrophy, a temporal focus that is present at birth and a nasal focus that appears early in life. Retinal detachment is an additional complication of the disease ({1:Douglas et al., 1968}; {4:Kelsell et al., 1995})." +600791,"DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing loss, which may be fluctuating or progressive. The hearing loss is associated with temporal bone abnormalities, most commonly enlargement of the vestibular aqueduct, but it can also include the more severe Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns (summary by {8:Campbell et al., 2001} and {21:Pryor et al., 2005}). Enlarged vestibular aqueduct is the most common form of inner ear abnormality and can be associated with disequilibrium symptoms in a minority of patients ({25:Valvassori, 1983}; {15:Jackler and de la Cruz, 1989}; {16:Levenson et al., 1989}; {4:Arcand et al., 1991}; {7:Belenky et al., 1993}; {18:Okumura et al., 1995})." +600794,"Distal hereditary motor neuronopathy type VA (dHMN5A or HMN5A) is an autosomal dominant neuromuscular disorder characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life. The disorder is slowly progressive, and most patients eventually have lower limb involvement with foot deformities. Although sensory impairment is uncommon, some patients show this feature, illustrating the phenotypic overlap with CMT2D. Rare patients may have pyramidal signs or hyperreflexia (summary by {3:Christodoulou et al., 1995} and {4:Dubourg et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN1 ({182960})." +600795,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-7 (FTDALS7) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD in adulthood. Some patients have ALS, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency, whereas others have FTD, manifest as behavioral and personality changes, memory loss, cognitive decline, and disinhibition. A few patients may have both phenotypes. Pathology typically shows UBB ({191339}), p62/sequestosome (SQSTM1; {601530}), and TDP43 ({605078})-immunoreactive intraneuronal inclusions (summary by {1:Brown et al., 1995} and {4:Cox et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550})." +600801,"In the United States, the prevalence of essential hypertension is greater among blacks than among whites in all ages after young adulthood ({1:Cornoni-Huntley et al., 1989}). A variety of genetic and environmental factors have been proposed to account for the racial differences in the prevalence and severity of hypertension ({3:Gillum, 1979}; {2:Falkner, 1990}; {4:Kaplan, 1994}). Greater blood pressure responses to mental and physical stress have been reported in normotensive blacks. The heightened blood pressure response generally occurs in conjunction with an increase in total peripheral vascular resistance that is unaccompanied by a change in cardiac output. An alteration in vascular responsiveness to sympathetic stimuli, such as either increased vasoconstriction mediated by alpha-adrenergic receptors or decreased vasodilation mediated by beta-2-adrenergic receptors, could contribute to increases in total peripheral vascular resistance. To determine the contribution of blunted vasodilatation mediated by beta-2-adrenergic receptors to the enhanced vascular reactivity in young blacks, {5:Lang et al. (1995)} compared forearm blood flow responses to isoproterenol in young black and white normotensive men. They found that these responses to isoproterenol were markedly attenuated in normotensive blacks, indicating a blunting of vasodilatation mediated by beta-2-adrenergic receptors. They suggested that the same mechanisms responsible for blunted vasodilatation in response to isoproterenol may contribute to enhanced vascular reactivity in blacks and play a part in the pathogenesis of hypertension in blacks." +600803,"In general, gallbladder disease (GBD) is one of the major digestive diseases. GBD prevalence is particularly high in some minority populations in the United States, including Native and Mexican Americans. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations of GBD in western countries, including the United States. Most people with gallstones remain asymptomatic through their lifetimes; however, it is estimated that approximately 10 to 50% of individuals eventually develop symptoms. Significant risk factors associated with GBD are age, female sex, obesity (especially central obesity), lipids, diet, parity, type 2 diabetes ({125853}), medications, and Mexican American ethnicity. GBD appears to be strongly related to the metabolic syndrome ({605552}) and/or its major components, such as hyperinsulinism, dyslipidemia, and abdominal adiposity ({2:Boland et al., 2002}; {17:Tsai et al., 2004}). Infection, specifically by Helicobacter, has been implicated in cholelithiasis and cholecystitis ({16:Silva et al., 2003}; {10:Maurer et al., 2005}).\n\nLow phospholipid-associated cholelithiasis is a specific form of gallbladder disease characterized by young-adult onset of chronic cholestasis with intrahepatic sludge and cholesterol cholelithiasis. Affected individuals have recurrence of the disorder after cholecystectomy and show a favorable response to treatment with ursodeoxycholic acid (UDCA) (summary by {11:Pasmant et al., 2012}).\n\nMutation in the ABCB4 gene can cause a spectrum of related diseases, including the more severe progressive familial intrahepatic cholestasis-3 (PFIC3; {602347}), intrahepatic cholestasis of pregnancy-3 (ICP3; {614972}), andoral contraceptive-induced cholestasis (OCIC; see {614972}).\n\n<Subhead> Genetic Heterogeneity of Gallbladder Disease\n\nTwo major susceptibility loci for symptomatic gallbladder disease have been identified on chromosome 1p in Mexican Americans (GBD2, {609918}; GBD3, {609919}). In addition, variations in the ABCG8 gene ({605460}) on chromosome 2p21 confer susceptibility to gallbladder disease (GBD4; {611465})." +600807,"Bronchial asthma is the most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment.\n\nAsthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis ({36:Laitinen et al., 2001}; {31:Illig and Wjst, 2002}; {60:Pillai et al., 2006}). See {147050} for information on the asthma-associated phenotype atopy." +600808,"For a general description and a discussion of genetic heterogeneity of nocturnal enuresis, see {600631}." +600851,"{1:Hachiya et al. (1995)} noted that the import of many proteins into mitochondria is initiated by the interaction of the amino-terminal targeting sequence with mitochondrial import-stimulating factor (MSF), which selectively binds mitochondrial precursor proteins. This interaction causes MSF to hydrolyze ATP. The MSF-precursor complex can bind to outer membrane vesicles from rat liver mitochondria with concomitant inhibition of ATPase activity. {1:Hachiya et al. (1995)} identified the mitochondrial proteins that recognized the MSF-bound precursor in yeast. They reconstituted the initial steps of yeast mitochondrial protein import with a purified precursor protein, a purified ATP-dependent cytosolic chaperone selective for mitochondrial precursors, namely MSF, and either intact mitochondria or intact or solubilized mitochondrial outer membranes. They showed that the precursor-MSF complex first binds to the Mas37p/Mas70p subunits of the mitochondrial import receptor. After ATP-dependent release of MSF, the precursor is transferred from Mas37p/Mas70p to the Mas20p ({601848})/Mas22p subunits of the receptor, and finally delivered to the import channel in the outer membrane. The import in the absence of the MSF bypasses Mas37p/Mas70p. {1:Hachiya et al. (1995)} stated that the ATP-mediated transfer of a precursor from MSF to specific subunits of the import receptor is similar to the GTP-mediated transfer of precursors from the signal recognition particle to its receptor on the endoplasmic reticulum." +600852,"Retinitis pigmentosa-17 (RP17) is characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression. Many affected individuals have preserved central vision and acuity until the sixth or seventh decades of life ({4:de Bruijn et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +600858,"Mutations in the PRKAG2 gene ({602743}) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild to severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by {7:Burwinkel et al., 2005})." +600881,"Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar.\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Congenital Zonular, with Sutural Opacities; CCZS.'" +600884,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200})." +600901,"Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by {2:de Winter et al., 2000}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +600906,"{1:Ilyina et al. (1995)} described syndactyly involving the third and fourth fingers and the second and third toes in a girl with an unusual form of ectodermal dysplasia. She had normal height, weight, and head circumference but was mildly mentally retarded and had a large scalp defect, a peculiar face with large palpebral fissures, a broad nasal bridge and constantly open mouth, abnormally modeled ears, mild hypohidrosis, and severe onychogryposis affecting, for example, the great toes. Her hair was short, abundant, and stiff, the eyebrows were sparse, and the skin was dry. Although the parents denied consanguinity, they came from the same small village in Moldova." +600907,"{1:Seow et al. (1995)} described a 12-year-old girl with generalized enamel hypoplasia of the hypomaturation-hypocalcification type, bilateral capsular cataracts, and enlarged cerebral ventricles secondary to aqueductal stenosis. They suggested that the combination may represent a 'new' syndrome. The parents were nonconsanguineous. The cataracts had been discovered approximately 18 months previously when she was investigated for headaches, easy fatigability, and deterioration in school performance." +600919,"Loss-of-function mutations in ANK2 can result in a broad spectrum of clinical cardiac phenotypes. Carriers of some mutations (e.g., E1425G, {106410.0001}) display QT interval prolongation, stress- and/or exercise-induced polymorphic ventricular arrhythmia, syncope, and sudden cardiac death. Patients with other variants show clinical phenotypes, sometimes mild, extending beyond LQTS, leading to the label 'ankyrin-B syndrome.' These phenotypes include bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia ({1:Mohler et al., 2007})." +600920,"Van den Ende-Gupta syndrome is an autosomal recessive disorder characterized by severe contractual arachnodactyly from birth and distinctive facial dysmorphism, including triangular face, malar hypoplasia, narrow nose, everted lips, and blepharophimosis. Skeletal anomalies include slender ribs, hooked clavicles, and dislocated radial head. There is no neurologic involvement (summary by {9:Patel et al., 2014})." +600952,"Transsexuals have the strong feeling, often from childhood onwards, of having been born the wrong sex. The possible biologic and genetic basis of transsexuality has long been debated. {2:Zhou et al. (1995)} showed that the volume of the central subdivision of the bed nucleus of the stria terminalis (BSTc) of the hypothalamus, a brain area that is essential for sexual behavior, is larger in men than in women. They also found a female-sized BSTc in male-to-female transsexuals. The size of the BSTc was not influenced by sex hormones in adulthood and was independent of sexual orientation. Furthermore, the size of BSTc of heterosexual men and homosexual men did not differ. In addition, there was no difference in BSTc size between early-onset and late-onset transsexuals, indicating that the decreased size is related to the gender identity alteration per se, rather than to the age at which it becomes apparent. {1:Breedlove (1995)} pointed out that all of the transsexuals had received estrogen treatments, all had taken the antiandrogenic drug cyproterone acetate, and all but one had been castrated. The other reservation comes out of the question of whether the structural differences are the result of purely biologic forces or whether experience can alter the structure and function of the brain to account for the findings." +600965,"Low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high frequency hearing is generally preserved, LFSNHL patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high frequency loss later in life. LFSNHL worsens over time without progressing to profound deafness; in contrast, low frequency hearing loss linked to DFNA1 ({124900}), caused by mutations in the DIAPH1 gene ({602121}), is associated with progression to profound deafness by the fourth decade of life (summary by {1:Bespalova et al., 2001})." +600969,"Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints ({2:Muragaki et al., 1996}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 ({132400})." +600972,"The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death ({6:Maroteaux and Lamy, 1968}; {5:Langer et al., 1969}). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.\n\n<Subhead> Classification of Achondrogenesis\n\nAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). {1:Borochowitz et al. (1988)} suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA (ACG1A; {200600}), corresponding to the cases originally published by {4:Houston et al. (1972)} and {3:Harris et al. (1972)}, and type IB, corresponding to the case originally published by {2:Fraccaro (1952)}. Analysis of the case reported by {8:Parenti (1936)} by {1:Borochowitz et al. (1988)} suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type ({200610}). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. {12:Superti-Furga (1996)} suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder." +600975,"For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A ({231300})." +600977,"Cone-rod dystrophy-5 (CORD5) is characterized by reduced visual acuity, photophobia, and defective color vision. Most patients experience onset of symptoms in early childhood, with progression to legal blindness by early adulthood, although some patients exhibit a milder phenotype, with onset in the fourth or fifth decade of life ({3:Kohn et al., 2007}; {4:Reinis et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see {120970}." +600989,"{1:Kobayashi et al. (1995)} described a family in which a grandmother, 1 of her sons, and 1 of her grandsons through an unaffected daughter showed various manifestations of infundibulopelvic dysgenesis. The proband was a 4-year-old male with multicystic kidney on the right and a normal left kidney which was hypertrophied. A maternal uncle had presented at age 18 years with abdominal pain and microscopic hematuria. Renal ultrasonography showed 'cysts' in both kidneys. A diagnosis of adult polycystic kidney disease was made. Renal dialysis and subsequently kidney transplantation was performed. The correct diagnosis in this individual was bilateral infundibulopelvic stenosis. (Another brother of the proband's mother had suffered a ruptured cerebral aneurysm at age 24 years but had a normal renal ultrasound at age 35 years.) The maternal grandmother of the proband had shown, on intravenous urogram at age 36 years, a normal left kidney and widening of the infundibula with blunting of the calyces of the right kidney without evidence of obstruction." +600995,"Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by {6:Fuchshuber et al., 1996}). Some patients show later onset of the disorder ({13:Tsukaguchi et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300})." +600996,"Arrhythmogenic right ventricular dysplasia-2 (ARVD2) is characterized by exercise-induced polymorphic ventricular arrhythmias, resulting in syncope or even sudden death in the second or third decades of life. Heart size and standard ECG are normal, but postmortem examinations have shown localized fibrofatty replacement at the apical anterior wall of the right ventricle ({2:Rampazzo et al., 1995}; {1:Bauce et al., 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of ARVD, see ARVD1 ({107970})." +601001,"Autosomal recessive generalized intermediate or severe epidermolysis bullosa simplex-1D (EBS1D) is a skin disorder characterized by blistering elicited by minor trauma that usually heals without scarring. Severity is variable; in some patients hands and feet are primarily affected, and in others blistering anywhere on the body may occur. In some patients the condition improves with age. Histology shows cleavage at the level of basal keratinocytes ({3:Hovnanian et al., 1993}; {4:Jonkman et al., 1996}).\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760}).\n\n<Subhead> Reviews\n\n{2:Fine et al. (2008)} reviewed the classification of inherited epidermolysis bullosa." +601003,"Brody disease (BROD) is an autosomal recessive skeletal muscle disorder characterized by exercise-induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur. Symptom onset is most often in the first decade, but many patients present and are diagnosed later in life. Skeletal muscle biopsy typically shows variation in fiber size, increased internal nuclei, and atrophy of type II muscle fibers. Rare patients have been reported to develop malignant hyperthermia after administration of anesthesia, suggesting that patients with the disorder should be tested. The disorder results from defective relaxation of fast-twitch (type II) skeletal muscle fibers due to defects in calcium homeostasis and reuptake in the muscle fiber (summary by {11:Odermatt et al., 2000} and {8:Molenaar et al., 2020})." +601004,"{1:Ramirez et al. (1995)} reported the occurrence of idiopathic extrahepatic portal hypertension (EHPH) due to cavernous transformation of the portal vein in a father and daughter who both had complications of portal hypertension in early childhood. In addition, the father had juvenile polyposis coli ({174900})." +601005,"Timothy syndrome (TS) is characterized by multiorgan dysfunction, including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism ({8:Splawski et al., 2004})." +601042,"Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by {4:Weber et al., 2011})." +601067,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({3:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see {276900}." +601068,"Familial cortical myoclonic tremor associated with epilepsy (FCMTE) is characterized by an autosomal dominant inheritance, adult-onset cortical myoclonus, and seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by {3:Depienne et al., 2010}). FAME1 tends to occur in patients of Japanese or Han Chinese descent (summary by {2:Cen et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Familial Adult Myoclonic Epilepsy\n\nSee also FAME2 ({607876}), caused by mutation in the STARD7 gene ({616712}) on chromosome 2q11; FAME3 ({613608}), caused by mutation in the MARCHF6 gene ({613297}) on chromosome 5p15; FAME4 ({615127}), which maps to chromosome 3q26.32-q28; FAME5 ({615400}), caused by mutation in the CNTN2 gene ({190197}) on chromosome 1q32; FAME6 ({618074}), caused by mutation in the TNRC6A gene ({610739}) on chromosome 16p12; and FAME7 ({618075}), caused by mutation in the RAPGEF2 gene ({609530}) on chromosome 4.\n\nProgressive myoclonic epilepsy is a more severe disorder (see, e.g., EPM1, {254800})." +601075,"In a brother and sister, {1:Gershoni-Baruch and Leibo (1996)} described an apparently new autosomal recessive disorder characterized by aplasia cutis congenita ({107600}), high myopia, congenital nystagmus, and cone-rod dysfunction. The aplasia cutis congenita was located on the midline of the scalp vertex. {2:Leung et al. (1988)} had described 2 sibs with aplasia cutis congenita of the scalp associated with ocular defects such as myopia, keratoconus, nystagmus, atrophic irides, and atrophic pigment epithelium. {1:Gershoni-Baruch and Leibo (1996)} thought that a critical difference of those 2 sibs was their particular tendency to develop permanent atrophic linear or macular scars following minor trauma to the forearms, hands, and lower legs." +601088,"Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth ({6:Niceta et al., 2015})." +601095,"{1:Harrod et al. (1977)} reported 2 brothers with an unusual syndrome of mental retardation, unusual facial appearance, large protruding ears, arachnodactyly, hypogenitalism, failure to thrive, and minor anomalies. The younger child also had malrotation of the small bowel and died at the age of 2 months before surgery for pyloric stenosis. Autopsy showed multiple microcysts of the renal cortex. {2:Jurenka and Van Allen (1996)} reported the case of a 46-year-old man with striking resemblance to the children described by {1:Harrod et al. (1977)}. In addition to the features described by {1:Harrod et al. (1977)}, he had megacolon and varicose veins, suggestive of a connective tissue disorder. An unusual facial appearance consisted of hypotelorism, long nose, highly arched palate, pointed chin, and a small mouth with malocclusion. Both brothers reported by {1:Harrod et al. (1977)} had an aberrant subclavian artery, and both had undescended testes and hypospadias. The appearance of the ears was particularly striking, as illustrated by photographs." +601098,"For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B ({118200})." +601101,"For a general phenotypic description and a discussion of genetic heterogeneity of HHT, see {187300}." +601104,"Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons. They also have different characteristics at the ultrastructural level ({1:Baker et al., 1999}).\n\n{15:Kertesz (2003)} suggested the term 'Pick complex' to represent the overlapping syndromes of frontotemporal dementia (FTD; {600274}), primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' ({172700}) should be restricted to the pathologic finding of Pick bodies.\n\n<Subhead> Genetic Heterogeneity of Progressive Supranuclear Palsy\n\nOther loci for PSP have been mapped to chromosome 1q31 (PSNP2; {609454}) and 11p12-p11 (PSNP3; {610898}).\n\nSee also Parkinson-dementia syndrome and atypical progressive supranuclear palsy ({260540})." +601110,"Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin ({5:Leroy, 2006}).\n\nCDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by {6:Marques-da-Silva et al., 2017}).\n\nFor a discussion of the classification of CDGs, see CDG1A ({212065})." +601127,"{2:Bindewald et al. (1994)} described an apparently novel autosomal recessive syndrome in 3 brothers and a sister in a Pakistani family with first-cousin parents. Cardiac anomalies, either classic tetralogy of Fallot or double-outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis, were found in 3 of the 4. One of the sibs had only noncardiac manifestations, namely minor facial anomalies, pronounced failure to thrive, and mental retardation. {2:Bindewald et al. (1994)} could not exclude the possibility of 2 separate autosomal recessive mutations in this sibship. Tetralogy of Fallot has been observed in association with a number of syndromes and as an isolated familial occurrence. See, for example, hypertelorism and tetralogy of Fallot ({239711}).\n\n{1:Belengeanu et al. (2005)} reported a 4-year-old Romanian boy with a constellation of symptoms consistent with the cases described by {2:Bindewald et al. (1994)}: tetralogy of Fallot, severe growth and mental retardation, large ears, syndactyly of toes, and cryptorchidism. The child was in foster care, and information on his parents was unavailable." +601130,CYP2C9 is one of the major drug-metabolizing CYP450 isoforms. See {124020} for more information. +601136,"Tissue-specific gene expression is generally extinguished in somatic cell hybrids formed by fusing different cell types. The extinction phenomenon has been long studied as a paradigm for developmental and tissue-specific gene control. {1:Cerosaletti and Fournier (1996)} reviewed the literature on the extinction phenomenon and noted that extinction in hepatotoma/fibroblast hybrids involves a comprehensive loss of liver-specific gene activity, including expression of liver-enriched transcription factors. Extinction of liver gene expression in hepatoma hybrids occurs at the level of transcription, resulting in a 1,000-fold reduction in steady-state levels of liver-specific mRNAs. Furthermore, extinction is reversible: as the hybrids segregate chromosomes of their nonhepatic parents, liver genes are reexpressed. Thus, extinction is an active process that requires the continuous presence of fibroblast loci that function in trans.\n\nExpression of the serum albumin gene ({103600}) is extinguished in rat hepatoma microcell hybrids that retain mouse chromosome 1, defining a trans-dominant extinguisher locus, Tse-2, on mouse chromosome 1. To localize the human TSE2 locus, {1:Cerosaletti and Fournier (1996)} prepared and characterized rat/human microcell hybrids that contained either human chromosome 1 or chromosome 2, the genetic homologs of mouse chromosome 1. They found that microcell transfer of human chromosome 2 into rat hepatoma recipients produced keratotypically heterogeneous collections of hybrid clones, some of which displayed dramatic albumin extinction phenotypes. Expression of several other liver genes was also affected in some of the microcell hybrids, but expression of these genes was not concordant with expression of albumin. Reexpression of albumin mRNA and protein was observed in sublines that had lost or fragmented human chromosome 2. Expression of mRNAs encoding the liver-enriched transactivators HNF1 ({142410}), HNF4 ({600281}), HNF3-alpha, and HNF3B ({600288}) was not affected in any of the chromosome 2-containing hybrids. {1:Cerosaletti and Fournier (1996)} favored the view that multiple extinguisher loci reside on human chromosome 2." +601144,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {2:Antzelevitch et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Brugada Syndrome\n\nBrugada syndrome-2 ({611777}) is caused by mutation in the GPD1L gene ({611778}) on chromosome 3p22. Brugada syndrome-3 ({611875}) and Brugada syndrome-4 ({611876}), the phenotypes of which include a shortened QT interval on ECG, are caused by mutation in the CACNA1C gene ({114205}) on chromosome 12p13 and CACNB2 gene ({600003}) on chromosome 10p12, respectively. Brugada syndrome-5 ({612838}) is caused by mutation in the SCN1B gene ({600235}) on chromosome 19q13. Brugada syndrome-6 ({613119}) is caused by mutation in the KCNE3 gene ({604433}) on chromosome 11q13. Brugada syndrome-7 ({613120}) is caused by mutation in the SCN3B gene ({608214}) on chromosome 11q24. Brugada syndrome-8 ({613123}) is caused by mutation in the HCN4 gene ({605206}) on chromosome 15q24. Brugada syndrome-9 ({616399}) is caused by mutation in the KCND3 gene ({605411}) on chromosome 1p13.\n\n{3:Antzelevitch et al. (2007)} screened 82 consecutive probands with a clinical diagnosis of Brugada syndrome for mutations in 16 ion channel genes. Seven probands were found to have mutations in the CACNA1C ({114205}) or CACNB2 ({600003}) genes, including 3 Brugada probands with shortened QTc intervals (see {611875} and {611876}). Fifteen percent of probands harbored a pathogenic mutation in the SCN5A gene.\n\n{13:Delpon et al. (2008)} screened 14 ion channel genes in 105 probands with Brugada syndrome and detected SCN5A mutations in 14.3%, CACNA1C mutations in 6.7%, and CACNB2 mutations in 4.8% of the probands.\n\n{19:Hu et al. (2009)} analyzed 9 'Brugada susceptibility' genes, including SCN5A, GPD1L ({611778}), CACNB2, CACNA1C, SCN1B ({600235}), KCNE2 ({603796}), KCNE3 ({604433}), KCNE4 ({607775}), and IRX5 ({606195}), as well as the sodium channel beta subunit SCN3B ({608214}), in 179 probands with Brugada syndrome; they noted that 129 (72.07%) of the probands were negative for mutation in all of the genes tested.\n\n{12:Crotti et al. (2012)} analyzed 12 Brugada syndrome susceptibility genes in 129 unrelated patients with possible or probable Brugada syndrome and identified SCN5A mutations in 21 (16.3%) of the patients; only 6 (4.6%) of the patients carried a mutation in 1 of the other 11 genes.\n\nIn a cohort of 91 SCN5A-negative Brugada syndrome patients and 91 European controls from the 1000 Genomes Project database, {14:Di Resta et al. (2015)} analyzed 158 arrhythmia- and cardiac defect-associated genes. A significant enrichment in Brugada syndrome samples was found only for the DSG2 gene ({125671}), with 6 (6%) of 91 patients having a rare functional variant compared to none of the 91 controls (p = 0.029). In addition, borderline significance was detected for the MYH7 gene ({160760}) (5 patients versus 0 controls; p = 0.059). Analysis of phenotype correlations yielded statistical significance only between the presence of a DSG2 variant and syncope, documented ventricular tachycardia/fibrillation, and/or cardiac arrest (p = 0.034). {14:Di Resta et al. (2015)} noted the possible genetic overlap between different cardiac disorders, suggesting common pathogenetic pathways." +601151,"Helicases are essential components of a number of multiprotein complexes, including those that regulate transcription, splicing, translation, and DNA repair. These enzymes assist in the unwinding of double-stranded DNA and RNA as an essential part of their function (summary by {2:Amann et al., 1996})." +601152,"Hereditary motor and sensory neuropathy type VI is an autosomal dominant neurologic disorder characterized by peripheral neuropathy and optic atrophy (summary by {12:Voo et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VI\n\nSee also HMSN6B ({616505}), caused by mutation in the SLC25A46 gene ({610826}) on chromosome 5q22, and HMSN6C ({618511}), caused by mutation in the PDXK gene ({179020}) on chromosome 21q22.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CMT, see CMT1B ({118200})." +601162,"Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by {1:Coutelier et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600})." +601165,"{1:McPherson and Clemens (1996)} described a possibly 'new' autosomal recessive disorder in a chromosomally normal brother and sister who shared a lethal pattern of anomalies, including bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, complex congenital heart defect, and malrotation of the intestine. The male was large for gestational age, while his sister was normally grown. The girl had bifid thumbs, but the boy had only minor hand anomalies. The boy was initially thought to have Simpson-Golabi-Behmel syndrome (SGBS; {312870}) on the basis of macrosomia, cleft lip and palate, tongue anomaly, short broad hands, and visceromegaly with hypertrophic pancreatic islets. After the birth of the severely affected sister, SGBS seemed unlikely because that condition is X-linked. Fryns syndrome ({229850}) was considered unlikely because diaphragmatic hernia is found in over 90% of patients with that syndrome. Robinow syndrome ({180700}) was also considered, but the severity of the heart defects was considered atypical and neither patient had hemivertebrae or short arms.\n\n{2:Nevin et al. (1997)} described 3 brothers with anomalies similar to those in the brother and sister reported by {1:McPherson and Clemens (1996)}. Apart from the bilobed tongue, malrotation of the intestine, and bifid thumbs, they showed bilateral cleft lip and palate, hypertelorism, flat face, flat occiput, and complex congenital heart defects." +601186,"Syndromic microphthalmia-9, also referred to as pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect, is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The phenotype is variable, ranging from isolated clinical anophthalmia or microphthalmia to complex presentations involving the cardiac, pulmonary, diaphragmatic, and renal systems. At its most severe, infants are born without pulmonary structures and die soon after birth ({10:Marcadier et al., 2015})." +601188,"Prostate cancer ({176807}) is the second leading cause of male cancer deaths in the United States. {1:Sanchez et al. (1996)} noted that, while prostate secretory epithelial cells and androgen-dependent prostate carcinomas undergo apoptosis in response to androgen deprivation, most prostate carcinomas become androgen independent and refractory to further therapeutic manipulations during disease progression. {1:Sanchez et al. (1996)} undertook to define the genetic events that trigger apoptosis in the prostate. They reported the functional definition of a novel genetic locus within 10pter-q11 that mediates both in vivo tumor suppression and in vitro apoptosis in prostatic adenocarcinoma cells. A defined fragment of human chromosome 10 was transferred via microcell fusion into a prostate adenocarcinoma cell line. Microcell hybrids containing only the region 10pter-q11 were suppressed for tumorigenicity following injection of microcell hybrids into nude mice. Furthermore, the complemented hybrids underwent programmed cell death in vitro via a mechanism that does not require nuclear localization of p53 ({191170}). {1:Sanchez et al. (1996)} concluded that a novel genetic locus, designated prostate adenocarcinoma 1 (PAC1) by them, is involved in tumor suppression of human prostate carcinoma and that the cell death pathway might be functionally restored in prostatic adenocarcinoma with therapeutic benefit." +601195,"African iron overload is a distinct iron-loading disorder prevalent in Africa. Formerly termed Bantu siderosis, the disorder results from a predisposition to iron loading that is exacerbated by excessive intake of dietary iron. It is particularly a problem among Africans who drink a traditional beer brewed in non-galvanized steel drums. Although the disorder was once attributed to dietary excess alone, serious iron overload does not develop in all beer drinkers, and not all patients with iron overload consume excessive amounts of the beer (summary by {1:Andrews, 1999})." +601198,"Autosomal dominant hypocalcemia-1 is associated with low or normal serum parathyroid hormone concentrations (PTH). Approximately 50% of patients have mild or asymptomatic hypocalcemia; about 50% have paresthesias, carpopedal spasm, and seizures; about 10% have hypercalciuria with nephrocalcinosis or kidney stones; and more than 35% have ectopic and basal ganglia calcifications (summary by {13:Nesbit et al., 2013}).\n\n{21:Thakker (2001)} noted that patients with gain-of-function mutations in the CASR gene, resulting in generally asymptomatic hypocalcemia with hypercalciuria, have low-normal serum PTH concentrations and have often been diagnosed with hypoparathyroidism because of the insensitivity of earlier PTH assays. Because treatment with vitamin D to correct the hypocalcemia in these patients causes hypercalciuria, nephrocalcinosis, and renal impairment, these patients need to be distinguished from those with other forms of hypoparathyroidism (see {146200}). {21:Thakker (2001)} suggested the designation 'autosomal dominant hypocalcemic hypercalciuria' for this CASR-related disorder.\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Hypocalcemia\n\nAutosomal dominant hypocalcemia-2 (HYPOC2; {615361}) is caused by mutation in the GNA11 gene ({139313}) on chromosome 19p13." +601200,"Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome ({5:Hill et al., 2009}). PPBs contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense 'cambium' layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis ({6:Priest et al., 1996}).\n\nIn approximately 35% of families in which a child has PPB, the patient or a family member manifests 1 or more additional conditions from an unusual array of dysontogenetic-dysplastic and malignant conditions, known as the 'PPB family tumor and dysplasia syndrome' (PPBFTDS). Cystic nephroma, which are benign lesions of the kidney, are found in 9 to 10% of family members affected by PPB (summary by {1:Bahubeshi et al., 2010}).\n\nLarger studies have shown that DICER1 mutations are associated with a variety of tumor types, indicating that this disorder can be considered a tumor predisposition syndrome (summary by {7:Slade et al., 2011})." +601202,"Anterior polar cataracts are small opacities on the anterior surface of the lens. They usually do not interfere with vision ({3:Moross et al., 1984}).\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Anterior Polar, 2; CTAA2.'" +601214,"In Naxos disease, abnormalities of the skin, hair, and nails are associated with arrhythmogenic right ventricular cardiomyopathy. The ectodermal features are evident from birth or early childhood, whereas the cardiac symptoms develop in young adulthood or later. Clinical variability of ectodermal features has been observed, with hair anomalies ranging from woolly hair to alopecia, and skin abnormalities ranging from mild focal palmoplantar keratoderma to generalized skin fragility or even lethal neonatal epidermolysis bullosa ({10:Protonotarios et al., 1986}; {3:Cabral et al., 2010}; {9:Pigors et al., 2011}; {5:Erken et al., 2011}; {13:Sen-Chowdhry and McKenna, 2014}).\n\nAnother syndrome involving cardiomyopathy, woolly hair, and keratoderma (Carvajal syndrome; {605676}) is caused by mutation in the desmoplakin gene (DSP; {125647}). Also see {610476} for a similar disorder caused by homozygous mutation in the DSC2 gene ({125645})." +601216,"Dental anomalies and short stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with almost absent enamel ({4:Huckert et al., 2015}). Some patients exhibit valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms ({2:Dugan et al., 2015}; {3:Guo et al., 2018}). Inter- and intrafamilial variability has been reported." +601217,"{1:Devriendt et al. (1996)} proposed autosomal recessive inheritance for the disorder observed in 2 brothers but granted that X-linked recessive inheritance could not be excluded with certainty. Two brothers, born of healthy, nonconsanguineous Caucasian parents, had total alopecia at birth, with absent scalp hair, eyelashes, and eyebrows. During adolescence, hair progressively appeared on the scalp, but remained sparse and woolly. Tonic-clonic convulsions started during the first month of life and disappeared after age 4 in both. Electroencephalogram during childhood was normal. When seen at ages 30 and 23, there was alopecia of the scalp with normal eyebrows. Teeth and nails were normal. Both were mildly retarded. Testicular volume was 8 ml bilaterally with a small penis. Serum FSH ({118850}) levels were elevated, consistent with hypergonadotropic hypogonadism. Scanning electron microscopy showed an abnormal appearance of the hair shaft with damaged or absent cuticula and exposure of the underlying hair cell layers. This was described as central trichoptilosis ('hair plus feathers'), a condition of splitting of the shaft giving it a feathery appearance. {1:Devriendt et al. (1996)} noted that, since it is difficult to assess hypergonadotropic hypogonadism before adolescence, it is possible that this may have been the same disorder as that in the children reported by {2:Pridmore et al. (1992)}, {3:Richieri-Costa and Frota-Pessoa (1979)}, and {4:Wessel et al. (1987)}. Several other alopecia-mental retardation syndromes are discussed elsewhere; see {203600}, {203650}, and {230740}." +601220,"{1:Hernandez et al. (1996)} described an 8-year-old boy with generalized osteoporosis and oculocutaneous hypopigmentation syndrome (OOCH) without cerebral defects. The child was born of a 47-year-old father and 20-year-old mother, both of Mexican extraction, who denied consanguinity. There was no family history of albinism or hearing difficulties. Psychomotor development was normal. Differences from the Cross syndrome ({257800}) and Preus syndrome ({257790}) were the lack of cerebral abnormality and the presence of osteoporosis." +601221,"{1:Shapero et al. (1994)} noted that the expression of many liver-specific genes is extinguished when cultured hepatoma cells are fused with fibroblasts. Extinguished liver genes can be reexpressed in hybrid segregants that have lost chromosomes from the fibroblast parent, suggesting that extinction is an active process mediated by trans-acting regulatory factors. Two extinguisher loci had been reported previously: one, TSE1, on human chromosome 17 ({188830}), and a second, TSE2, on human chromosome 2 ({601136}). {1:Shapero et al. (1994)} transferred human chromosomes with a selectable marker into rat hepatoma cells by microcell fusion and studied the expression of liver-specific mRNAs in nearly 200 human/rat microcell hybrid clones, using the transcript from rat PEPCK ({614168}) as a detectable molecular marker. PEPCK mRNA synthesis was extinguished in 12 of these hybrid clones. The authors noted that some of these hybrids contained human TSE1, but others contained a novel extinguishing function that mapped to human chromosome 14. The identity and mechanism of the locus, designated TSE3 by them, remained to be defined." +601223,"As pointed out by {1:Barone et al. (1996)}, {3:Fadda et al. (1983)} differentiated 2 clinical and histochemical forms of neuronal intestinal dysplasia, NID A (see {243180}) and NID B. NID A is a very rare condition characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. In NID B, the entity discussed in this entry, the parasympathetic submucous plexus is primarily affected. As indicated by {2:Borchard et al. (1991)}, characteristic histologic and histochemical findings, on which the diagnosis can be based, are (1) hyperplasia of submucosal plexuses with giant submucosal ganglia, (2) increased acetylcholinesterase activity in nerve fibers around submucosal blood vessels, (3) increased acetylcholinesterase activity in nerve fibers of the lamina propria mucosae, and (4) heterotopic ganglion cells in the lamina propria mucosae and in the muscularis mucosae. While most cases of NID B are sporadic, the observation of the few familial clusters suggest autosomal dominant inheritance ({5:Scharli (1992)}). The frequency of NID B is difficult to estimate because of high variability of the clinical expression and difficulties in making the diagnosis ({4:Martucciello et al., 1994}).\n\n{1:Barone et al. (1996)} analyzed 2 NID B families for linkage to the RET locus ({164761}) on 10q, which is the site of mutations in Hirschsprung disease ({142623}), another form of intestinal dysganglionosis. Linkage to RET was excluded." +601224,"Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses ({168500}), and biparietal foramina ({605957}) (summary by {15:Swarr et al., 2010})." +601228,"The hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas (CRC).\n\n<Subhead> Genetic Heterogeneity of Hereditary Mixed Polyposis\n\nHMPS2 ({610069}) is caused by mutation in the BMPR1A gene ({601299}) on chromosome 10q23." +601230,"Dermatitis herpetiformis (DH) and celiac disease (CD; {212750}) are gluten-sensitive diseases. In classic CD the small intestine is predominantly affected, whereas in DH the skin is also affected, showing typical rash and IgA deposits.\n\n{3:Reunala (1996)} reported on the familial incidence of DH in a prospective study started in 1969 in Finland. A total of 1,018 patients with DH were diagnosed and questioned for positive family histories. Of the 999 unrelated DH patients, 105 (10.5%) had 1 or several affected first-degree relatives. Disease in the relatives was either DH (4.4%) or CD (6.1%). Analysis of the 105 families showed that 13.6% of parents, 18.7% of sibs, and 14% of children were affected, a segregation pattern that fitted well to a mendelian dominant mode of inheritance. Gender may also be important because the first-degree relatives affected with DH were more often females and those affected with CD twice as often females as males.\n\nDH and CD have a common immunogenetic background; both disorders are associated with HLA alleles DQA1*0501 (see {146880}) and B1*0201 (see {142857}). {1:Karell et al. (2002)} evaluated the role of the HLA-DQ locus in 25 families in which both classic CD and DH occurred in sibs. By using a family-based approach, they assumed that within each family, variation in environmental factors was substantially lower than in the standard case-control setting, and that the problems related to population stratification could be avoided. Results from Finnish family material comprising 25 discordant and 85 concordant sib pairs, and from case-control material comprising 71 unrelated Hungarian DH and 68 classic CD patients, together indicated that the HLA-DQ locus did not differ between the 2 major outcomes of gluten-sensitive enteropathy. The authors concluded that non-HLA-DR;DQ factors are crucial for the different clinical manifestations of gluten sensitivity.\n\nUsing ELISA, {4:Sardy et al. (2002)} found that sera from both CD and DH reacted with tissue transglutaminase (TGM2; {190196}) and epidermal transglutaminase (TGM3; {600238}), but the DH antibodies had a markedly higher avidity for TGM3. Immunofluorescence and confocal microscopy demonstrated that IgA precipitates in the papillary dermis of DH patients contained TGM3, but not keratinocyte transglutaminase (TGM1; {190195}) or TGM2. {4:Sardy et al. (2002)} concluded that TGM3 is the dominant autoantigen in DH, explaining why skin symptoms rather than intestinal symptoms appear in a proportion of patients with gluten-sensitive disease." +601238,"Cayman cerebellar ataxia (ATCAY) is an autosomal recessive neurologic disorder characterized by hypotonia from birth, variable psychomotor retardation, and cerebellar dysfunction, including nystagmus, intention tremor, dysarthria, ataxic gait, and truncal ataxia. Although the disorder was initially believed to be restricted to an isolated region of Grand Cayman Island (summary by {7:Nystuen et al., 1996}; {1:Bomar et al., 2003}), one Pakistani family with the disorder and an ATCAY mutation has been reported, thus expanding the ethnic distribution ({6:Manzoor et al., 2018})." +601267,"Monocyte chemoattractant protein-1 (MCP1, or CCL2; {158105}) is produced by endothelial cells, smooth muscle cells, and macrophages in response to a variety of mediators. It may be involved in inflammatory processes in rheumatoid arthritis, alveolitis, and tumor infiltration, and it may also be an important component of monocyte invasion of artery walls in atherosclerosis. CCR2 encodes a receptor for MCP1 ({5:Charo et al., 1994})." +601277,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({8:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {7:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300})." +601315,"{1:Van Kuijck et al. (1996)} reported the cloning, expression, and functional characterization of a rabbit epithelial basolateral chloride conductance regulator (EBCR), a protein belonging to the superfamily of ATP-binding cassette (ABC) transporters (see {170260}). They cloned an approximately 6-kb cDNA from a rabbit ileum mucosal cDNA library. The largest ORF encodes a 1,564-amino acid polypeptide with 12 predicted membrane spanning domains and 2 large predicted cytoplasmic domains, both of which bear a putative ATP binding site. EBCR shows 49% identity with human multidrug resistance-associated protein ({158343}) and 29% identity with the cystic fibrosis transmembrane conductance regulator ({602421}). Northern blot analysis revealed high expression in small intestine, kidney, and liver. In kidney, immunohistochemistry showed a conspicuous basolateral localization mainly in the thick ascending limb of Henle loop, distal convoluted tubules, and to a lesser extent connecting tubules. The functional activation by cAMP and its conspicuous localization to the basolateral domain in epithelial cells of nephron segments involved in cAMP-dependent chloride reabsorption suggested to {1:van Kuijck et al. (1996)} that EBCR is involved in chloride reabsorption and might be a basolateral counterpart of CFTR." +601317,"Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by {3:Sun et al., 2011})." +601322,"{1:Bonnemann and Meinecke (1996)} reported the cases of brother and sister infants with an apparently new, probably autosomal recessive syndrome of bilateral porencephaly, cerebellar hypoplasia (including absence of the vermis), and internal malformations. The boy had tetralogy of Fallot and total situs inversus. The sister had an atrial septal defect. The parents, of Turkish ancestry, were related as first cousins. In cases of extensive bilateral porencephaly, the term 'basket brain' has been coined, referring to the remaining parasagittal tissue, giving the brain the appearance of a basket with a handle. {1:Bonnemann and Meinecke (1996)} noted that the topography of the insult often resembles the territory of the middle cerebral artery, suggesting a vascular cause for this disruptive insult." +601338,"Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) is an autosomal dominant neurologic disorder characterized by early-childhood onset of recurrent episodes of acute ataxic encephalopathy associated with febrile illnesses. These acute episodes tend to decrease with time, but the neurologic sequelae are permanent and progressive, resulting in gait and limb ataxia and areflexia. Affected individuals also develop progressive visual impairment due to optic atrophy and sensorineural hearing loss beginning in childhood. More variable features include abnormal eye movements, pes cavus, and dysphagia (summary by {2:Demos et al., 2014})." +601341,"Atrophia maculosa varioliformis cutis was first described by {2:Heidingsfeld (1918)} as a primary idiopathic noninflammatory macular atrophy. Thereafter, 7 isolated cases were reported by {4:Marks and Miller (1986)} and {3:Kolenik et al. (1994)}. {1:Gordon and Doherty (1996)} described affected sisters, aged 15 and 13 years, whose histories and clinical findings suggested a familial form of AMVC. The elder sister presented with a 12-year history of marks under the chin. Although she had previously had varicella at the age of 8 and molluscum contagiosum at the age of 12, her parents were certain that neither of these infections had involved the chin and that asymptomatic 'small holes' were appearing spontaneously without any preceding trauma or inflammation. The younger sister had no history of varicella, acne, or molluscum contagiosum and presented with a 6-month history of clinically similar well-demarcated varioliform depressions with a sharp or steplike margin, starting around the umbilicus and later involving the posterior aspect of the pinna. {4:Marks and Miller (1986)} also observed AMVC in sibs." +601344,"{1:Anhalt et al. (1995)} described a boy with midthoracic hemivertebrae, flat vertebrae, narrow anterior-posterior (A-P) diameter of the vertebral bodies, and absence of normal spinous processes of the lower thoracic and lumbar vertebrae. At 32 months of age he was evaluated for short stature. His father was very short (131.6 cm) and had scoliosis of the thoracic and lumbar spine, multiple anomalies of vertebral bodies with a decrease of A-P dimension, arthritic changes of chondropathic type in his hands, and coxa vara. Although there was some similarity to dyssegmental dwarfism ({224400}) and Kniest dysplasia ({156550}), {1:Anhalt et al. (1995)} suggested that this was a 'new' type of autosomal dominant spinal dysplasia." +601346,"The Martinez-Frias syndrome is characterized by pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula. There is considerable phenotypic overlap between Martinez-Frias syndrome and Mitchell-Riley syndrome (MTCHRS; {615710}), the latter being characterized by neonatal diabetes in addition to the features of the Martinez-Frias syndrome, but without tracheoesophageal fistula ({4:Smith et al., 2010})." +601347,"{1:Stoll et al. (1994)} reported 3 sibs (2 females and 1 male), born of first-cousin parents, with a similar complex of abnormalities: delay in physical and psychomotor development, facial dysmorphism (prominent forehead, midface hypoplasia, short philtrum), relapsing respiratory, gastrointestinal and urinary infections, steatorrhea, and neutropenia. Bronchiectasis was found in all 3 patients. A sweat test was normal. Immunologic study of the older sister showed a low number of E rosettes, which was not corrected by thymosin. The 2 older sibs exhibited cardiovascular malformations (aortic insufficiency in the girl, auricular septal defect and tricuspid insufficiency in the boy). Both sisters had vesicoureteral reflux. Acute myeloblastic leukemia was diagnosed in the older girl at the age of 14 years. Cytogenetic study of the patients was normal. Normal output of pancreatic enzymes and the absence of bone abnormalities ruled out the diagnosis of Shwachman syndrome ({260400}), and stability of centromeres and no increase in micronuclei in PHA-stimulated cultures ruled out the ICF syndrome ({242860}). {1:Stoll et al. (1994)} concluded that the associations found in the 3 sibs represented a distinct syndrome with autosomal recessive inheritance." +601348,"{2:Van den Ende et al. (1996)} reported 4 unrelated Dutch children with the association of ectrodactyly of lower limbs, congenital heart defects (ventricular septal defects in 2, hypoplastic right heart in 1, tetralogy of Fallot in 1), and facial abnormalities (micrognathia, short palpebral fissures). Review of the literature revealed the same association in 1 female infant reported by {1:Froster and Baird (1993)}. All other reported patients with this association had additional defects. The cases reported by {2:Van den Ende et al. (1996)} were sporadic. See also {601349}." +601355,"{1:Ellis et al. (1996)} described 3 female sibs (1 a fetus) with multiple congenital anomalies; one liveborn sib died at 16 days of age and the other at 13 months. All 3 had microcephaly and cardiovascular defects (arterial truncus in one, ventricular septal defects in the others). Unilateral renal agenesis was found in the 2 infants, and hypolobulation of lungs was found in an infant and the fetus. Each of the sisters had at least one of the following features: cleft palate, preauricular pits, hypoplastic alae nasi, hydranencephaly, neck webbing, and short terminal phalanges of fingers. Wolf-Hirschhorn ({194190}) and Smith-Lemli-Opitz ({270400}) syndromes were excluded by cytogenetic, molecular, and biochemical studies. {1:Ellis et al. (1996)} considered this complex to be a 'new' syndrome with presumably autosomal recessive inheritance." +601357,"Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly. Although the disorder is rarely reported, the features are consistent enough to constitute a distinct entity (summary by {2:Kariminejad et al., 2009})." +601358,"Nicolaides-Baraitser syndrome (NCBRS) is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair (summary by {5:Sousa et al., 2009})." +601360,"Posterior amelia with pelvic and pulmonary hypoplasia syndrome (PAPPAS) is characterized by absent lower limbs, severely hypoplastic or absent pelvic bones, and hypoplasia of the sacrum, as well as hypoplasia of the lungs with pulmonary segmentation defect. Ambiguous genitalia have also been observed ({2:Kariminejad et al., 2019}).\n\nHeterozygous mutation in the TBX4 gene causes ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS; {147891})." +601362,"The DiGeorge syndrome (DGS; {188400}) and velocardiofacial syndrome (VCFS; {192430}) may present many clinical problems, including cardiac defects, hypoparathyroidism, T-cell immunodeficiency, and facial dysmorphism. They are frequently associated with deletions within 22q11.2 (accounting in part for the designation CATCH22), but a number of cases have no detectable molecular defect of this region. {2:Daw et al. (1996)} stated that a number of single case reports with deletions of 10p suggested genetic heterogeneity of DGS. They compared the regions of hemizygosity in 4 patients with terminal deletions of 10p (1 patient with hypoparathyroidism and 3 with DGS) and 1 patient with VCFS and a large interstitial deletion. Fluorescence in situ hybridization (FISH) analysis demonstrated that these patients had overlapping deletions at the 10p13/10p14 boundary. A YAC contig spanning the shortest region of deletion overlap (SRO) was assembled and allowed the size of the SRO to be approximated to 2 Mb. As with deletions of 22q11, phenotypes varied considerably between affected patients. {2:Daw et al. (1996)} concluded that the results strongly support the hypothesis that haploinsufficiency of a gene or genes within 10p (DGS2 locus) can cause the DGS/VCFS spectrum of malformations.\n\n{5:Schuffenhauer et al. (1998)} performed FISH and PCR analyses in 12 patients with 10p deletions, 9 of them with features of DGS, and in a familial translocation 10p;14q associated with midline defects. The critical DGS2 region was defined by 2 DGS patients and mapped within a 1-cM interval including D10S547 and D10S585. The other 7 DGS patients were hemizygous for both loci. The breakpoint of the reciprocal translocation 10p;14q mapped at a distance of at least 12 cM distal to the critical DGS2 region. Interstitial and terminal deletions described in these patients were in the range of 10 to 50 cM and enabled the tentative mapping of loci for ptosis and hearing loss, features that are not part of the DGS clinical spectrum.\n\n{1:Bartsch et al. (1999)} sought evidence for chromosomal microdeletions at 10p14-p13 in patients with the DGS/VCFS phenotype. In a series of patients studied in Dresden, all with normal karyotypes, 22q11 microdeletions were found in 12, and no patient was found to have a deletion of the critical region of 10p. Another series studied in Munich included 22 patients with an unequivocal diagnosis of DGS and no detectable deletion of 22q11. These patients had at least 2 of the 3 major DGS signs: conotruncal heart defect, T-cell deficiency, and hypocalcemia/hypoparathyroidism. FISH analysis showed a dizygous pattern in all of the patients, indicating no deletions at the 10p critical region. On the basis of this study, {1:Bartsch et al. (1999)} suggested that FISH service laboratories need not implement a screen for 10p microdeletions among DGS/VCFS patients.\n\n{4:Lichtner et al. (2000)} reported clinical and molecular deletion analysis of a patient described by {3:Hasegawa et al. (1997)} and a new case, both with the HDR phenotype: hypoparathyroidism, deafness, and renal dysplasia ({146255}). They were found to have partial monosomy for 10p due to terminal deletions with breakpoints between D10S585 and D10S1720. By comparison with data previously published on patients with DiGeorge/velocardiofacial syndrome associated with 10p monosomy, {4:Lichtner et al. (2000)} concluded that this is a contiguous gene syndrome. Hemizygosity for a proximal region can cause cardiac defects and T cell deficiency; hemizygosity for a more distal region can cause hypoparathyroidism, sensorineural deafness, and renal dysplasia.\n\n{6:Villanueva et al. (2002)} determined that a genomic sequence including the nebulette gene (NEBL; {605491}) was heterozygously deleted in cell lines derived from 2 female DGS2 patients with the proximal deletion of chromosome 10p14-p13, which is associated with cardiac and craniofacial abnormalities. One patient showed a cardiac defect, immune deficiency, cleft palate, facial dysmorphia, and developmental delay. The other showed microcephaly, microphthalmia, and hypotelorism. The NEBL gene was not deleted in cell lines derived from 2 patients with the more distal deletion of 10p14-p13, which is associated with HDR syndrome." +601363,"For a general phenotypic description and discussion of genetic heterogeneity of Wilms tumor, see WT1 ({194070})." +601367,"A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. {15:Gunel and Lifton (1996)} noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes.\n\n{4:Bersano et al. (2008)} reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; {612309}), the renin-angiotensin-aldosterone system (see, e.g., ACE; {106180}), homocysteine (see, e.g., MTHFR; {607093}), and lipoprotein metabolism (see, e.g., APOE; {107741}).\n\nSee also hemorrhagic stroke, or intracerebral hemorrhage (ICH; {614519})." +601369,"DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable vestibular dysfunction (summary by {9:Robertson et al., 2006})." +601370,"{1:Camera et al. (1993)} described a girl with semilobar holoprosencephaly, confirmed by computer tomography, and primary craniosynostosis involving the coronal and lambdoid sutures. No abnormalities of visceral organs were reported. At the age of 3 years, she demonstrated small vertebral bodies, coxa valga, and hypoplastic terminal phalanges of fingers. Ultrasonographic examination of the fetus during a second pregnancy of the couple showed an association of semilobar holoprosencephaly and craniosynostosis. The face was nondiagnostic of holoprosencephaly in both sibs. {1:Camera et al. (1993)} named this possibly autosomal recessive complex of primary craniosynostosis and holoprosencephaly the Genoa syndrome." +601371,"Nuclear sclerosis of the lens differs from cortical (see {609026}) and subcapsular opacities in that there is no enlargement of intercellular spaces or breakdown of cell membranes. This form of noncongenital cataract is strongly associated with increasing age. {1:Heiba et al. (1993)} analyzed the familial distribution of age-related nuclear sclerosis of the lens to detect a possible role of a major gene in sibships in the Beaver Dam Eye Study. Included in the analysis were 1,247 people, aged 43 to 84 years, from 564 sibships with at least 2 affected members in each sibship. There were significant sib correlations for all sibs, and separately for sister-sister, sister-brother, and brother-brother pairs. Segregation analysis excluded the hypothesis of a random environmental major effect. Comparing different models, {1:Heiba et al. (1993)} concluded that a single recessive gene can account for 35% of the total variability.\n\n{3:Klein et al. (2006)} found that 2 serum markers of systemic inflammation and vascular endothelial dysfunction, interleukin-6 ({147620}) and intracellular adhesion molecule-1 ({147840}), were significantly associated with age-related nuclear cataract but not with cortical or posterior subcapsular cataract.\n\nIn the Beaver Dam Eye Study population, {2:Klein et al. (2006)} found that statin use appeared to be associated with a lower risk of age-related nuclear cataract. {4:Tan et al. (2007)} studied the association of statin use with long-term incident cataract in the Blue Mountains Eye Study cohort. After controlling for age, gender, and other factors, statin use was found to reduce by 50% the risk of cataract development, principally nuclear or cortical cataract subtypes." +601372,"{1:Wheeler et al. (1993)} described 2 brothers, born of healthy unrelated parents, with the association of mild chorea, monocular horizontal nystagmus, and cataracts. In the 11-year-old brother, abnormal head and body movements improved after the age of 6 years but were obvious when he was stressed. Nystagmus gradually improved and was not apparent since the age of 6 years. His anterior and posterior wedge-shaped subcapsular cataracts did not markedly impair his vision. His 5-year-old brother still had chorea and nystagmus. His cataracts were similar to those in his brother. Metabolic screen of the urine was normal in both brothers. Although some manifestations in the brothers were similar to those in benign hereditary chorea ({118700}), {1:Wheeler et al. (1993)} considered this association to be a distinct autosomal recessive or X-linked recessive syndrome." +601374,"{1:Florell et al. (1996)} described the association of aprosencephaly, absence of optic chiasm (with well-formed eyes and retinal dysplasia), absent mesencephalon, poorly formed metencephalon, and severely dysplastic cerebellum in 2 sibs with first-cousin parents. The male fetus had wide gums and pes equinovarus, and the female fetus had bifid uvula. No visceral abnormalities were evident. {1:Florell et al. (1996)} noted that these types of abnormalities are consistent with mutation of a gene involved in specific spatiotemporal expression in forebrain development. Although maldevelopment of the prosencephalon, mesencephalon, and rostral rhombencephalon matched the expression profile of the OTX2 gene ({600037}), no sequence variations of the OTX2 gene were identified. Involvement of the mesencephalon and rhombencephalon and the absence of visceral and axial limb abnormalities distinguish this presumably autosomal recessive syndrome from the XK aprosencephaly syndrome ({207770})." +601375,"{1:Christianson and Fourie (1996)} described an Afrikaner family in which 6 persons in 3 generations showed an association of hair and nail defects. The proband had short, thin, sparse, pale scalp hair; her eyebrows were absent, and her eyelashes were short and sparse. There was almost no hair in her axillae and pubic area. Her nails were dystrophic and thickened; the distal half of the nail was not attached to the nail bed, resulting in a gap between the center of the free edge and the nail bed. Her sweating, skin, and teeth were normal. Similar manifestations, but varying in their severity, were found in her brother, mother, grandfather, aunt, and first cousin. The proband and her aunt had episodes of supraventricular tachycardia, and the proband's brother and mother had bradycardia. {1:Christianson and Fourie (1996)} suggested that this association is a 'new' autosomal dominant type of ectodermal dysplasia, involving hair and nails. The absence of skin defects distinguishes this form from Clouston syndrome ({129500})." +601376,"{1:Seller et al. (1996)} described a sporadic case of lethal chondrodysplasia in a male fetus born of first-cousin Caucasian parents. The fetus manifested an absence of ossification of the skull vault and vertebral bodies in the cervical and thoracic regions, platyspondyly in the lumbar region, and short angulated ulnae, radii, femora, tibiae, and fibulae. The fetus also presented sclerosis of scapulae and iliac bones, and humeri with mixed sclerosis affecting the metaphyses and with lysis affecting predominantly the diaphyses. {1:Seller et al. (1996)} suggested that this fetus represents a 'new' autosomal recessive form of lethal chondrodysplasia." +601389,"{1:Frydman et al. (1993)} described a male infant, born of first-cousin parents, with omphalocele, prune belly, thoracolumbar scoliosis, anal atresia, urethral obstruction with hypertrophic urinary bladder, dilated ureters, and dysplastic and hypoplastic kidneys. The proband's mother and all 3 of his sisters had cervical ribs. One sister had chronic immune thrombocytopenia (CIT), Sprengel deformity, and a clubfoot. Another sister had preaxial polydactyly and CIT. {1:Frydman et al. (1993)} proposed that all of these abnormalities were different manifestations of the same syndrome with varying expressivity in males and females (or in homo- and heterozygotes)." +601390,"Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by {1:Cappello et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Van Maldergem Syndrome\n\nSee also VMLDS2 ({615546}), caused by mutation in the FAT4 gene ({612411}) on chromosome 4q28." +601407,"For a phenotypic description and a discussion of genetic heterogeneity of type 2 diabetes mellitus (T2D), see {125853}." +601410,"Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates ({19:Shield, 2000}). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (see PNDM1, {606176}). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life ({2:Arthur et al., 1997}).\n\nThe major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; {17:Mackay et al., 2005}). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features.\n\n<Subhead> Genetic Heterogeneity of Transient Neonatal Diabetes\n\nTNDM2 ({610374}) is caused by mutation in the ABCC8 gene ({600509}) on chromosome 11p15.1. TNDM3 ({610582}) is caused by mutation in the KCNJ11 gene ({600937}), also located on 11p15.1." +601412,"Autosomal dominant deafness-7 (DFNA7) is a form of progressive sensorineural hearing loss with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood. Some patients may have associated vertigo (summary by {5:Wesdorp et al., 2018})." +601419,"Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB; {123590}), dystrophin ({300377}), and myotilin (TTID; {604103}).\n\n<Subhead> Genetic Heterogeneity of Myofibrillar Myopathy\n\nOther forms of MFM include MFM2 ({608810}), caused by mutation in the CRYAB gene ({123590}); MFM3 ({609200}) ({182920}), caused by mutation in the MYOT gene ({604103}); MFM4 ({609452}), caused by mutation in the ZASP gene (LDB3; {605906}); MFM5 ({609524}), caused by mutation in the FLNC gene ({102565}); MFM6 ({612954}), caused by mutation in the BAG3 gene ({603883}); MFM7 ({617114}), caused by mutation in the KY gene ({605739}); MFM8 ({617258}), caused by mutation in the PYROXD1 gene ({617220}); MFM9 ({603689}), caused by mutation in the TTN gene ({188840}); MFM10 ({619040}), caused by mutation in the SVIL UNC45B gene ({611220}); MFM11 ({619178}), caused by mutation in the UNC45B gene ({611220}); and MFM12 ({619424}), caused by mutation in the MYL2 gene ({160781}).\n\n'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome ({602771}), caused by mutation in the SEPN1 gene ({606210}), is another desmin-related myopathy. {12:Goebel (1995)} provided a review of desmin-related myopathy." +601427,"{1:Jung et al. (1995)} described 2 unrelated children (a male and a female) with anterior chamber cleavage disorder (including coloboma of the right iris in the girl), growth retardation, congenital hypothyroidism, narrow external auditory meatus, cerebellar hypoplasia (with Dandy-Walker malformation in the boy), short neck, tracheal stenosis, hip dysplasia, and dense scalp hair. Deficiency of growth hormone, short feet, fusion of 1-2 lower incisors, and shield thorax were found in the 4-year-old girl. Hypoplasia of the penis was noted in the boy, who died at the age of 3.5 years. This complex could represent a widening of the clinical spectrum of Peters-plus syndrome ({261540}), but the occurrence of cerebellar defects, tracheal stenosis, and endocrine abnormalities suggested a hitherto undescribed entity." +601449,"{2:Thies et al. (1996)} described 4 adult sisters with bilateral conductive hearing loss, starting between the ages of 8 and 24 years. Tympanotomy showed ossification of the stapedial tendon or a bony bar from the neck of the stapes to the pyramidal eminence, leading to stapes fixation. After surgical removal of the bony tendon, hearing became normal in 3 sisters; in 1 sister, who had an additional deformity of the head of the stapes in the right ear, normal hearing was not restored after surgery. The parents of these sisters and 4 other sibs had normal hearing. This family showed an apparently autosomal recessive form of hearing loss due to stapes fixation. A similar type of hearing loss was reported by {1:Grant and Grant (1991)}." +601450,"{1:Collins et al. (1995)} described a woman with congenital dislocation of the hips, epicanthus, flat face, and slight joint laxity. Her growth was normal. Her 3 daughters were relatively short and had congenital dislocation of the hips, hyperextensibility of joints, and characteristic facial appearance (flat face with broad nasal bridge, wide-set eyes, and puffy appearance around the eyes). Two of the girls had congenital heart disease (atrial septal defect in one, and patent ductus arteriosus (see {607411}) and patent foramen ovale in the other). One of the girls had congenital dislocation of the knee, and another had vesicoureteric reflux and inguinal hernia. Hyperextensibility of joints and inguinal hernia were observed in the girls' father. Clinical examination excluded Larsen syndrome ({150250}, {245600}). Electron microscopic study of collagen excluded Ehlers-Danlos syndrome, type VII ({130060}, {225410}). {1:Collins et al. (1995)} proposed that a previously undescribed autosomal dominant syndrome segregates in this family." +601452,"The OAFNS phenotype combines abnormalities of the morphogenesis of the first and second branchial arches (microtia/skin tags, epibulbar dermoids, cleft lip/palate, mandibular hypoplasia, and facial asymmetry) with malformations due to the anomalous development of the frontonasal eminence and maxillary processes (notched/bifid nasal tip, cleft lip and/or palate, and encephalocele) ({1:Gabbett et al., 2008})." +601453,"{4:Salinas and Spector (1980)} reported 2 pedigrees in which an association of hypodontia and abnormal hair was found in 10 persons. Autosomal dominant inheritance of the disorder was confirmed in 2 other families ({3:Kersey, 1987}; {1:Eteson and Clark, 1989}). Missing teeth, peg-shaped incisors, and shell teeth were the most common dental abnormalities. The hair in most patients was fine, sparse, dull, and slow growing. There was considerable intra- and interfamilial variability. {2:Giannotti et al. (1995)} described a sporadic case of trichodental dysplasia in an Italian girl who also had mild microcephaly and mental retardation." +601454,"For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 ({177900})." +601455,"Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive disorder of the peripheral nervous system characterized by early-onset distal muscle weakness and atrophy, foot deformities, and sensory loss affecting all modalities. Affected individuals develop deafness by the third decade of life (summary by {8:Okamoto et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive Charcot-Marie-Tooth disease, see CMT4A ({214400})." +601457,"Severe combined immunodeficiency refers to a genetically and clinically heterogeneous group of disorders with defective cellular and humoral immune function. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus, among many others. Laboratory analysis shows profound lymphopenia with diminished or absent immunoglobulins. The common characteristic of all types of SCID is absence of T cell-mediated cellular immunity due to a defect in T-cell development. Without treatment, patients usually die within the first year of life. The overall prevalence of all types of SCID is approximately 1 in 75,000 births ({10:Fischer et al., 1997}; {2:Buckley, 2004}).\n\n<Subhead> Genetic Heterogeneity of SCID\n\nSCID can be divided into 2 main classes: those with B lymphocytes (B+ SCID) and those without (B- SCID). Presence or absence of NK cells is variable within these groups.\n\nThe most common form of SCID is X-linked T-, B+, NK- SCID (SCIDX1; {300400}) caused by mutation in the IL2RG gene ({308380}) on chromosome Xq13.1.\n\nAutosomal recessive SCID includes T-, B-, NK+ SCID, caused by mutation in the RAG1 and RAG2 genes on 11p13; T-, B+, NK- SCID ({600802}), caused by mutation in the JAK3 gene ({600173}) on 19p13.1; T-, B+, NK+ SCID (IMD104; {608971}), caused by mutation in the IL7R gene ({146661}) on 5p13; T-, B+, NK+ SCID (IMD105; {619924}), caused by mutation in the CD45 gene (PTPRC; {151460}) on 1q31-q32; T-, B+, NK+ SCID (IMD19; {615617}), caused by mutation in the CD3D gene ({186790}) on 11q23; T-, B-, NK- SCID ({102700}) caused by mutation in the ADA ({608958}) gene on 20q13.11; and T-, B-, NK+ SCID with sensitivity to ionizing radiation ({602450}), caused by mutation in the Artemis gene (DCLRE1C; {605988}) on 10p ({22:Kalman et al., 2004}).\n\nApproximately 20 to 30% of all SCID patients are T-, B-, NK+, and approximately half of these patients have mutations in the RAG1 or RAG2 genes ({29:Schwarz et al., 1996}; {10:Fischer et al., 1997})." +601458,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +601462,"Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by {5:Engel et al., 2003}; {7:Engel et al., 2015}). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency ({5:Engel et al., 2003}).\n\nSlow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by {7:Engel et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Congenital Myasthenic Syndromes\n\nRecessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS ({11:Harper, 2004}). CMS1A and CMS1B ({608930}) are caused by mutation in the CHRNA1 gene ({100690}); CMS2A ({616313}) and CMS2C ({616314}) are caused by mutation in the CHRNB1 gene ({100710}) on 17p12; CMS3A ({616321}), CMS3B ({616322}), and CMS3C ({616323}) are caused by mutation in the CHRND gene ({100720}) on 2q33; and CMS4A ({605809}), CMS4B ({616324}), and CMS4C ({608931}) are caused by mutation in the CHRNE gene ({100725}) on 17p13.\n\nCMS5 ({603034}) is caused by mutation in the COLQ gene ({603033}) on 3p25; CMS6 ({254210}) is caused by mutation in the CHAT gene ({118490}) on 10q; CMS7 ({616040}) is caused by mutation in the SYT2 gene ({600104}) on 1q32; CMS8 ({615120}) is caused by mutation in the AGRN gene ({103320}) on 1p; CMS9 ({616325}) is caused by mutation in the MUSK gene ({601296}) on 9q31; CMS10 ({254300}) is caused by mutation in the DOK7 gene ({610285}) on 4p; CMS11 ({616326}) is caused by mutation in the RAPSN gene ({601592}) on 11p11; CMS12 ({610542}) is caused by mutation in the GFPT1 gene ({138292}) on 2p14; CMS13 ({614750}) is caused by mutation in the DPAGT1 gene ({191350}) on 11q23; CMS14 ({616228}) is caused by mutation in the ALG2 gene ({607905}) on 9q22; CMS15 ({616227}) is caused by mutation in the ALG14 gene ({612866}) on 1p21; CMS16 ({614198}) is caused by mutation in the SCN4A gene ({603967}) on 17q; CMS17 ({616304}) is caused by mutation in the LRP4 gene ({604270}) on 11p12; CMS18 ({616330}) is caused by mutation in the SNAP25 gene ({600322}) on 20p11; CMS19 ({616720}) is caused by mutation in the COL13A1 gene ({120350}) on 10q22; CMS20 ({617143}) is caused by mutation in the SLC5A7 gene ({608761}) on 2q12; CMS21 ({617239}) is caused by mutation in the SLC18A3 gene ({600336}) on 10q11; CMS22 ({616224}) is caused by mutation in the PREPL gene ({609557}) on 2p21; CMS23 ({618197}) is caused by mutation in the SLC25A1 gene ({190315}) on 22q11; CMS24 ({618198}) is caused by mutation in the MYO9A gene ({604875}) on 15q22; and CMS25 ({618323}) is caused by mutation in the VAMP1 gene ({185880}) on 12p13." +601466,"The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetal circulation. {4:Uchino et al. (1996)} noted that functional closure of the ductus venosus starts immediately after birth when the blood pressure in the umbilical vein decreases. Complete functional closure of the ductus venosus occurs in 93% of infants at 2 weeks of age, and this is followed by anatomic closure. Congenital portosystemic venous shunt (PSVS) can result from patent ductus venosus (PDV).\n\n{4:Uchino et al. (1996)} described 3 Japanese brothers with progressive deterioration of hepatic function and fatty degeneration of the liver eventually leading to hepatic encephalopathy. Each of them had a congenital intrahepatic portosystemic venous shunt due to a patent ductus venosus. Liver dysfunction and hepatic steatosis reverted to normal with surgical correction of the ductus venosus. These observations suggested that impairment of liver function occurs first in the presence of malnutrition related to a reduction of blood in the portal vein. Hepatic steatosis is a consequence of depleted metabolism of hepatocytes. Congenital portosystemic venous shunt due to a patent ductus venosus appeared to have a genetic background in this family. The parents were nonconsanguineous. Of the 3 brothers, the middle-aged one was first diagnosed. He was well until age 3 years, when his appetite decreased. At the age of 3 years he showed unconsciousness after a febrile episode. Hyperammonemia without hepatosplenomegaly was discovered. Surgical closure of the ductus venosus was performed at age 3 years. At the age of 5 years, the oldest of the 3 brothers had been noted to have transient stupor and nausea after eating meat. Surgical correction of the ductus venosus was performed at age 5.5 years. The youngest of the 3 brothers was found to have elevated serum acid levels at age 5 months. Ultrasonography detected a PDV anatomically similar to that of the 2 older brothers. The shunt ratio was estimated to be 77% by per-rectal portal scintigraphy. Microscopically the liver showed mild fatty degeneration. {4:Uchino et al. (1996)} reported that the youngest of the 3 sibs had a high level of blood galactose without enzyme deficiency. This was found on neonatal screening and was an important clue for the diagnosis of PSVS.\n\n{1:Gitzelmann et al. (1992)} described hypergalactosemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii.\n\n{2:Jacob et al. (1999)} reported 3 adult brothers with patent ductus venosus. The proband was a 43-year-old man with a history of panhypopituitarism who presented with recurrent bouts of pedal edema associated with fatigue, hypoalbuminemia, and elevated prothrombin time. Ultrasound demonstrated attenuation of the main portal vein with diminished intrahepatic branches; CT scan with angiography showed a large collateral vein within the liver consistent with patent ductus venosus. His younger brother, who had been diagnosed with alcohol-related cirrhosis, suffered from intermittent bouts of encephalopathy and was found to have the same vascular lesion. A third brother was found to have patent ductus venosus as well as 2 large hepatic masses consistent with focal nodular hyperplasia. Autosomal recessive or X-linked recessive inheritance was postulated." +601471,"Hereditary congenital facial paresis (HCFP) is the isolated dysfunction of the facial nerve (CN VII).\n\nHCFP is considered to be distinct from Moebius syndrome ({157900}), which shares some of the same clinical features.\n\n<Subhead> Genetic Heterogeneity of Hereditary Congenital Facial Paresis\n\nOne locus for HCFP (HCFP1) has been mapped to chromosome 3q. Another locus (HCFP2; {604185}) has been mapped to chromosome 10q. HCFP3 ({614744}) is caused by mutation in the HOXB1 gene ({142968}) on chromosome 17q21." +601492,"Mucopolysaccharidosis type IX (MPS9) is a rare progressive lysosomal storage disorder caused by the deficiency of the enzyme hyaluronoglucosaminidase-1, which degrades hyaluronan (summary by {5:Imundo et al., 2011})." +601495,"Agammaglobulinemia is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. The most common form of agammaglobulinemia is X-linked agammaglobulinemia (AGMX1, XLA; {300755}), also known as Bruton disease, which is caused by mutation in the BTK gene ({300300}). AGMX1 accounts for anywhere from 85 to 95% of males who have the characteristic findings ({4:Lopez Granados et al., 2002}; {3:Ferrari et al., 2007}). Autosomal recessive inheritance of agammaglobulinemia, which has a similar phenotype to that of the X-linked form, has been observed in a small number of families, and accounts for up to 15% of patients with agammaglobulinemia ({3:Ferrari et al., 2007}). {2:Conley (1999)} gave a comprehensive review of autosomal recessive agammaglobulinemia.\n\n<Subhead> Genetic Heterogeneity of Autosomal Agammaglobulinemia\n\nAutosomal agammaglobulinemia is a genetically heterogeneous disorder: see also AGM2 ({613500}), caused by mutation in the IGLL1 gene ({146770}); AGM3 ({613501}), caused by mutation in the CD79A gene ({112205}); AGM4 ({613502}), caused by mutation in the BLNK gene ({604515}); AGM5 ({613506}), caused by disruption of the LRRC8 gene ({608360}); AGM6 ({612692}), caused by mutation in the CD79B gene ({147245}); AGM7 ({615214}), caused by mutation in the PIK3R1 gene ({171833}); AGM8 ({616941}), caused by mutation in the TCF3 gene ({147141}); AGM9 ({619693}), caused by mutation in the SLC39A7 gene ({601416}); and AGM10 ({619707}), caused by mutation in the SPI1 gene ({165170})." +601499,"Axenfeld-Rieger syndrome is a disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals. Systemic abnormalities, including cardiac and dental anomalies, are associated.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity and nomenclature of Axenfeld-Rieger syndrome, see RIEG1 ({180500})." +601536,"Homozygous loss-of-function mutations in the HOXA1 gene result in disorders with variable phenotypic expressivity that span a spectrum. Two related, but somewhat distinctive, phenotypes have been described in different populations: the Athabaskan brainstem dysgenesis syndrome (ABDS) in Native Americans, and Bosley-Salih-Alorainy syndrome (BSAS) in individuals from the Middle East, including Turkey and Saudi Arabia. Features common to both disorders include Duane retraction syndrome with variable gaze palsies, sensorineural deafness associated with inner ear abnormalities, and delayed motor development. More variable features, observed in both disorders, include conotruncal cardiac malformations, cerebral vascular malformations, and impaired intellectual development with autism. Unique to ABDS are central hypoventilation, often resulting in early death, facial weakness, and more severe cognitive deficits. These features are thought to be due to a more severe malformation of the hindbrain in ABDS compared to BSAS (summary by {8:Tischfield et al., 2005})." +601539,"Peroxisome biogenesis disorder-1B (PBD1B) is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later. Most affected children have hypotonia, but unlike Zellweger syndrome (see PBD1A, {214100}) there is a degree of psychomotor development, and some patients achieve head control, sit unsupported, and may even walk independently. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. In PBD1B, the most common manifestations that are less apparent in ZS are sensorineural hearing loss and retinitis pigmentosa (summary by {26:Steinberg et al., 2006}). While Zellweger syndrome usually results in death in the first year of life, children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {34:Waterham and Ebberink, 2012}).\n\nIndividuals with mutations in the PEX1 gene have cells of complementation group 1 (CG1, equivalent to CGE). For information on the history of PBD complementation groups, see {214100}.\n\n<Subhead> Genetic Heterogeneity of Peroxisome Biogenesis Disorder NALD/IRD\n\nThe phenotypic spectrum of NALD/IRD peroxisome biogenesis disorders can be caused by mutation in members of the peroxin (PEX) gene family. The PEX genes encode proteins essential for the assembly of functional peroxisomes (summary by {6:Distel et al., 1996}). PBD1B is caused by mutation in the PEX1 gene on chromosome 7q21; PBD2B ({202370}) is caused by mutation in the PEX5 gene ({600414}) on chromosome 12p13.3; PBD3B ({266510}) is caused by mutation in the PEX12 gene ({601758}) on chromosome 17; PBD4B ({614863}) is caused by mutation in the PEX6 gene ({601498}) on chromosome 6p21.1; PBD5B ({614867}) is caused by mutation in the PEX2 gene ({170993}) on chromosome 8q21.1; PBD6B ({614871}) is caused by mutation in the PEX10 gene ({602859}) on chromosome 1p36.32; PBD7B ({614873})is caused by mutation in the PEX26 gene ({608666}) on chromosome 22q11.21; PBD8B ({614877}) is caused by mutation in the PEX16 gene ({603360}) on chromosome 11p11; PBD10B ({617370}) is caused by mutation in the PEX3 gene ({603164}) on chromosome 6q24; and PBD11B ({614885}) is caused by mutation in the PEX13 gene ({601789}) on chromosome 2p15.\n\nSee PBD1A ({214100}) for a phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, which is also caused by mutation in peroxin genes. The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; {215100}), and a mild PBD without rhizomelia (PBD9B; {614879}), are caused by mutation in the PEX7 gene ({601757}) on chromosome 6q23." +601547,"Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal.\n\nBefore it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2." +601552,"Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera ({4:Patel et al., 2014})." +601559,"Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death ({8:Dagoneau et al., 2004}).\n\nSee also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; {255800}), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene ({142461}) on chromosome 1p36.\n\n<Subhead> Genetic Heterogeneity of Stuve-Wiedemann Syndrome\n\nStuve-Wiedemann syndrome-2 (STWS2; {619751}) is caused by mutation in the IL6ST gene ({600694}) on chromosome 5q11." +601560,"{1:Lowry et al. (1996)} described 2 unrelated patients with a phenotype consisting of small flat epiphyses, cleft of the secondary palate, micrognathia, and rhizomelic shortening of the limbs. Both had a similarly broad nasal tip, upward slanting palpebral fissures, and mild joint contractures. Stickler syndrome ({108300}) was considered in the differential diagnosis of both children, but neither had eye findings or flattening of the midface. Additionally, the radiographic findings in these children were not those of Stickler syndrome. The mode of inheritance could not be determined as both cases were sporadic." +601561,"{1:Maroteaux et al. (1996)} described a phenotype with similarities to Kniest dysplasia ({156550}) and to dyssegmental dysplasia ({224400}, {224410}) with severe glaucoma. They reported on 2 unrelated children with severe micromelia, contractures of the elbow and hip, dolichocephaly with a large anterior fontanel, malar hypoplasia, and cleft palate. Radiographic features revealed short, broad long bones with flared metaphyses, detailed epiphyseal ossification, and flat vertebral bodies. Severe glaucoma with exophthalmia was observed in both patients. The COL2A1 gene of 1 patient was studied by the SSCP method but no mutation was detected." +601606,"Multiple familial trichoepithelioma, also called epithelioma adenoides cysticum (EAC), is an autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma ({13:Johnson and Bennett, 1993}).\n\nBecause BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity ({14:Lee et al., 2005}; {4:Bowen et al., 2005}; {18:Young et al., 2006}; {16:Saggar et al., 2008}).\n\n{3:Blake and Toro (2009)} provided a detailed review of the spectrum of disorders associated with CYLD mutations." +601608,"Spastic paraplegia is a progressive degenerative disorder of the central nervous system that results in spasticity affecting primarily the lower limbs without demonstrable cause except an underlying mutation demonstrated or presumed. Heterogeneity is indicated both by mode of inheritance and by clinical distinctions. Evans syndrome is the simultaneous or sequential occurrence of Coombs-positive hemolytic anemia and immune thrombocytopenia without a known underlying etiology ({2:Evans and Duane, 1949}). It is a chronic immunologic disorder with a variable clinical course. {1:Ahmed et al. (1996)} described 2 Saudi brothers aged 13 and 9 years, the offspring of first-cousin parents, who walked on their toes from an early age and were initially diagnosed as congenital spastic diplegia. Evidence of the Evans syndrome began at age 5 in the older brother and age 2.5 in the younger brother. Rapid deterioration of functional motor ability followed the development of Evans syndrome. It is noteworthy that in the family a sister had died at one year of age with intracranial hemorrhage; she was said to have had hemolytic anemia and thrombocytopenia. Further details of investigations could not be traced. Thus, 3 sibs with Evans syndrome among the offspring of a consanguineous marriage were observed, suggesting autosomal recessive inheritance. Although genetic predisposition in Evans syndrome has perhaps not been specifically noted, familial clustering of cases of autoimmune hemolytic anemia and autoimmune thrombocytopenia as individual entities is well known." +601612,"The Mardini-Nyhan association comprises uni- or bilateral lung agenesis, complex cardiac defects, particularly total anomalous pulmonary venous return (TAPVR), and thumb abnormalities (summary by {2:Hastings et al., 2009})." +601631,"Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {4:Cheong et al., 2016}).\n\nAnterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon ({6:Gould and John, 2002}).\n\nSome patients with ASGD3 have been reported with the following subtypes: iridogoniodysgenesis, Peters anomaly, Axenfeld anomaly, and Rieger anomaly.\n\nIridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by {16:Mears et al., 1996}).\n\nPeters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea ({22:Peters, 1906}).\n\nIn Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by {23:Smith and Traboulsi, 2012})." +601634,"Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly ({206500}) ({9:Detrait et al., 2005}).\n\nWomen with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect ({16:O'Leary et al., 2005}). {15:Motulsky (1996)} cited evidence from the Centers for Disease Control ({1: Anonymous, 1992}) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects.\n\n{2:Botto et al. (1999)} and {9:Detrait et al. (2005)} provided reviews of neural tube defects. {8:De Marco et al. (2006)} provided a detailed review of neurulation and the possible etiologies of neural tube defects." +601675,"Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by {9:Faghri et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Trichothiodystrophy\n\nAlso see TTD2 ({616390}), caused by mutation in the ERCC3/XPB gene ({133510}); TTD3 ({616395}), caused by mutation in the GTF2H5 gene ({608780}); TTD4 ({234050}), caused by mutation in the MPLKIP gene ({609188}); TTD5 ({300953}), caused by mutation in the RNF113A gene ({300951}); TTD6 ({616943}), caused by mutation in the GTF2E2 gene ({189964}); TTD7 ({618546}), caused by mutation in the TARS gene ({187790}); TTD8 ({619691}), caused by mutation in the AARS1 gene ({601065}); and TTD9 ({619692}), caused by mutation in the MARS1 gene ({156560})." +601676,"Insulin secretion, in response to a glucose challenge, occurs in 2 phases. The first phase, or acute insulin response (AIR), is characterized by rapid increase in plasma insulin levels over 3 to 5 minutes followed by a decline. A second phase of insulin secretion begins at around 10 minutes and is maintained until circulating glucose levels return to normal. {1:Thompson et al. (1995)} used the AIR as a measure of insulin secretory function in linkage analyses in Pima Indians and localized a genetic element on chromosome 1p31 near the short tandem repeat marker (STRP) D1S198. This element may account for a maximum of 80% of the genetic variants in AIR. As a first step in the isolation of the gene responsible for the phenotypic variation in AIR, {2:Thompson et al. (1997)} constructed a YAC contig and physical map of the 1p31 region, which includes the leptin receptor locus ({601007})." +601678,"Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed ({13:Simon et al., 1997}).\n\nPatients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by {14:Simon et al., 1996} and {2:Fremont and Chan, 2012}).\n\nFor a discussion of genetic heterogeneity of Bartter syndrome, see {607364}." +601680,"Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features ({1:Bamshad et al., 1996}). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by {2:Bamshad et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 ({108120})." +601682,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}." +601696,"Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.\n\nRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).\n\nSee also harm avoidance ({607834}) and pathologic gambling ({606349}), which may be related." +601700,"Sebaceous gland hyperplasia presents as one or more elevated, soft, yellow papules with central umbilication on the face, particularly the forehead. Lesions may spread to the neck and upper part of the thorax. Sebaceous gland hyperplasia occurs frequently in older individuals, particularly in men past middle age ({5:Nomland, 1930}). A premature form has its appearance during puberty or just afterwards, male predominance, and excessive sebaceous secretion. Most cases are sporadic (summary by {2:Boonchai and Leenutaphong, 1997})." +601705,"T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND) is an autosomal recessive primary immunodeficiency characterized by congenital thymic aplasia and severe T-cell immunodeficiency apparent at birth or soon thereafter. Affected individuals tend to have recurrent infections, oral candidiasis, and failure to thrive. Immunologic investigations show decreased numbers of T cells with poor proliferative response to phytohemagglutinin (PHA) and variable hypogammaglobulinemia. The phenotype is consistent with a T-/B+/NK+ form of severe combined immunodeficiency (SCID; see, e.g., {102700}). Patients with FOXN1 mutations do not respond well to hematopoietic stem cell transplantation, as it is not curative; thymic transplantation offers a potential cure ({3:Chou et al., 2014})." +601707,"Curry-Jones syndrome is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas (summary by {7:Twigg et al., 2016})." +601708,"{2:Cohen et al. (1997)} described a 58-year-old man and his son who had calcification of superior transverse scapular ligament causing entrapment neuropathy of the suprascapular nerve. The chief complaints in both men were pain, weakness, and atrophy of the supraspinatus and infraspinatus muscles. The nerve entrapment was confirmed by electromyographic studies and required surgical decompression to relieve the symptoms. Release of the entrapped nerve resulted in complete relief of pain and full return of strength at 1-year follow-up. No other reports of familial suprascapular nerve entrapment due to calcification of the ligament had been described, according to the authors. The son had developed right shoulder pain as a result of repetitive softball throwing 5 years before the diagnosis was made. In the father, symptoms of weakness and night pain had begun in the right shoulder after he was forced to use crutches for 3 days following arthroscopic surgery of the right knee. He had noninsulin-dependent diabetes mellitus and peptic ulcer disease. {3:Hadley et al. (1986)} and {1:Callahan et al. (1991)} reported series of cases of suprascapular entrapment." +601709,"Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. The disorder shows a favorable therapeutic response to fibrinolytic inhibitors (summary by {1:Diamandis et al., 2009})." +601759,"{1:Carey et al. (1990)} reported a possible causal relationship between maternal diabetes and hallucal polydactyly, with a very unusual proximal placement of the extra digit. They suggested that this was a useful diagnostic marker of teratogenic effects in infants with multiple congenital abnormalities. {2:Slee and Goldblatt (1997)} reported a child with multiple skeletal abnormalities, including preaxial polydactyly, who was born to a woman with poorly controlled insulin-dependent diabetes. The proximal placement of the duplicated hallux was illustrated." +601764,"Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal ({3:Franzoni et al., 2005}).\n\nSee also benign familial neonatal seizures (BFNS1; {121200}).\n\n{1:Deprez et al. (2009)} provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.\n\n<Subhead> Genetic Heterogeneity of Benign Familial Infantile Seizures\n\nThe BFIS1 locus has been mapped to chromosome 19q. BFIS2 ({605751}) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 ({607745}), which is caused by the mutations in the SCN2A gene ({182390}) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 ({612627}) has been mapped to chromosome 1p. BFIS5 ({617080}) is caused by mutation in the SCN8A gene ({600702}) on chromosome 12q13. BFIS6 (see {610353}) is caused by mutation in the CHRNA2 gene ({118502}) on chromosome 8p21." +601775,"Folate-responsive megaloblastic anemia (MEGAF) is an autosomal recessive metabolic disorder characterized by megaloblastic anemia resulting from decreased folate transport into erythrocytes. Although serum levels of folate are normal, there is folate deficiency in tissues, including erythrocytes and possibly nerve cells. Serum homocysteine levels are increased and vitamin B12 levels may be decreased. Treatment with oral folate corrects the anemia and normalizes homocysteine (summary by {2:Svaton et al., 2020})" +601776,"The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility ({1:Beighton et al., 1998}).\n\nThe major characteristics of the musculocontractural form of EDS include distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement (summary by {10:Malfait et al., 2010}).\n\n{6:Janecke et al. (2015)} reviewed the clinical findings in 34 reported EDSMC patients, 31 with CHST14 mutations and 3 with DSE ({605942}) mutations (see {615539}), and stated that the disorder can be recognized based on the presence of distal arthrogryposis, including adducted thumbs or clenched fists and talipes equinovarus, as well as hands with atypically shallow palmar creases and tapering fingers, and neonatal muscular hypotonia. Characteristic craniofacial features include brachycephaly, large fontanel, hypertelorism, downslanting palpebral fissures, microcorneae, strabismus, prominent nasolabial folds, short philtrum, thin upper lip, small mouth, high palate, microretrognathia, and prominent and often low-set and posteriorly rotated ears. In addition, EDSMC patients show muscular hypoplasia and weakness, which has been confirmed by ultrasound and electromyography, and intellectual development appears to be normal.\n\n<Subhead> Genetic Heterogeneity of Musculocontractural Ehlers-Danlos Syndrome\n\nEhlers-Danlos syndrome musculocontractural type 2 (EDSMC2; {615539}) is caused by mutation in the DSE gene ({605942}) on chromosome 6q22." +601780,"Neuronal ceroid lipofuscinosis-6A (CLN6A) is an autosomal recessive neurodegenerative disorder with a variable age at onset in the first years of life after normal early development. Affected individuals have progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures. As with all CLNs, CLN6A is characterized pathologically by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN6A comprises mixed combinations of 'curvilinear' and 'fingerprint' profiles (summary by {9:Sharp et al., 2003}; {7:Mole et al., 2005}).\n\nFor a discussion of genetic heterogeneity of CLN, see CLN1 ({256730})." +601794,"{2:Verloes et al. (1997)} suggested the existence of an autosomal dominant coloboma-obesity-hypogenitalism-mental retardation syndrome. (See the Biemond syndrome II ({210350}) for an autosomal recessive form.) {1:Cavallacci (1937)} reported a mother with bilateral noncolobomatous microphthalmia, unilateral cataract, atypical retinitis pigmentosa, obesity, and borderline intelligence. She had 5 children, including 1 (early-deceased) with microphthalmia and a daughter with severe microphthalmia and cataract, obesity, hypogonadism, and mental retardation. {2:Verloes et al. (1997)} found several other reports, possibly of this same disorder, and added 3 sporadic cases: a boy who had microphthalmia noted at birth and hydrocephalus secondary to a large interhemispheric arachnoid cyst, requiring surgery. At age 7, he showed colobomatous microphthalmia with cataract on the left eye and microphthalmia with coloboma of the retina on the right. The second patient, seen at age 38, had extreme microphthalmia on one side and colobomatous microphthalmia on the other. Surgical treatment of bilateral cryptorchidism failed at age 10. Obesity appeared in infancy. After a failed suicide attempt at age 16, he was admitted to a psychiatric hospital where he spent the rest of his life. He showed obesity of the gynecoid type, with impressive bilateral gynecomastia and marked hypogenitalism. I.Q. was 60. The third patient, a girl seen at age 14.5 years, had right extreme microphthalmia and left microphthalmic coloboma noted at birth. Obesity began about age 5. Normal menarche occurred at 14 years of age. {2:Verloes et al. (1997)} reviewed other related disorders." +601803,"Pallister-Killian syndrome (PKS) is a dysmorphic condition involving most organ systems, but is also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) ({11:Peltomaki et al., 1987}; {19:Warburton et al., 1987})." +601811,"{1:Okamoto et al. (1997)} described an apparently new premature aging syndrome in a 15-year-old girl with severe growth and developmental abnormalities. Features also included osteosarcoma, cataracts, diabetes mellitus, osteoporosis, and erythroid macrocytosis. A photograph showed a round face, microcephaly, poor hair growth, flat nasal bridge, and low-set somewhat deformed ears. The parents were healthy and unrelated." +601812,"Penttinen syndrome is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis ({1:Johnston et al., 2015})." +601813,"Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {3:Poulter et al., 2010}).\n\nFor a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 ({133780})." +601815,"Phosphoglycerate dehydrogenase deficiency is an autosomal recessive inborn error of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures (summary by {6:Jaeken et al., 1996})." +601847,"Progressive familial intrahepatic cholestasis-2 (PFIC2) is an autosomal recessive disorder characterized by progressive liver disease with impairment of bile flow, but without hepatobiliary structural abnormality. Patients have amorphous or finely filamentous bile and nonspecific giant cell hepatitis on presentation (summary by {7:Strautnieks et al., 1998}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 ({211600})." +601853,"Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal dermal dysplasia, is a rare neurocutaneous syndrome classically characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, often giving rise to corneal opacities, and bilateral parietal or parietooccipital alopecia, However, trigeminal anesthesia is an inconsistent finding (summary by {13:Sukhudyan et al., 2010})." +601859,"Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes. It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias (summary by {3:Dowdell et al., 2010}).\n\nFor a review of the autoimmune lymphoproliferative syndromes, see {19:Teachey et al. (2009)}.\n\n<Subhead> Genetic Heterogeneity of Autoimmune Lymphoproliferative Syndrome\n\nType IIA ALPS (ALPS2A; {603909}) is caused by mutation in the caspase-10 gene (CASP10; {601762}). {13:Puck and Straus (2004)} designated caspase-8 deficiency ({607271}), caused by mutations in the CASP8 gene ({601763}), as type IIB ALPS. ALPS3 ({615559}) is caused by mutation in the PRKCD gene ({176977}). RAS-associated ALPS (RALD, or ALPS4; {614470}) is caused by mutation in the NRAS gene ({164790}). ALPS5 ({616100}) is caused by mutation in the CTLA4 gene ({123890})." +601869,"This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset (summary by {3:Charizopoulou et al., 2011})." +601876,"{1,2:Naz et al. (1984, 1986)} reported a monoclonal antibody that inhibits fertilization in mice and humans and studied the antigen it recognizes. The antigen, called fertilization antigen-1 (FA1) by them, is a glycoprotein of 23 kD in the monomeric state that has a ligand activity for ZP3A ({182889}) of oocyte zona pellucida and causes a reduction in fertility of actively immunized female rabbits. {5:Zhu and Naz (1997)} cloned and sequenced a cDNA encoding FA1 from murine testis, demonstrated its testis-specific expression, and showed immunocontraceptive effects of the recombinant protein.\n\n{4:Scott (2007)} stated that there is no evidence for the existence of this gene in humans. He found that the protein sequence in the paper of {3:Naz and Zhu (2002)} does not match anything human (build 35.1)." +601885,"Mutations in the GJA3 gene have been found to cause multiple types of cataract, which have been described as zonular pulverulent, posterior polar, nuclear coralliform, embryonal nuclear, and Coppock-like.\n\nThe preferred title/symbol for this entry was formerly 'Cataract, Zonular Pulverulent 3; CZP3.'" +601887,"Malignant hyperthermia-5 (MHS5) is a muscle disorder in which an episode is triggered by exposure to volatile anesthetic agents or depolarizing muscle relaxants. A fulminant malignant hyperthermia crisis is characterized by hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis (summary by {1:Monnier et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia, see MHS1 ({145600})." +601888,"Malignant hyperthermia (MH) is a life threatening disorder triggered in susceptible individuals on exposure to commonly used inhalational anaesthetics, e.g., halothane and the depolarizing muscle relaxant suxamethonium (succinyl choline) (summary by {1:Robinson et al., 1997})\n\nFor a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 ({145600})." +601894,"Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin ({2:Castelletti et al., 2008}).\n\nFor a discussion of genetic heterogeneity of GFND, see {137950}." +601976,"Otofacioosseous-gondadal syndrome was the designation proposed by {1:da-Silva et al. (1997)} for a seemingly new syndrome with probable autosomal recessive inheritance, which they observed in 2 sons and possibly a daughter of first-cousin parents. The syndrome consisted of sensorineural deafness, short stature, cryptorchidism, inguinal hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures, low nasal root, hypoplastic alae and round tip to the nose, low-set prominent ears, narrow thorax, genu valgum, wormian bones, fusion of carpal bones, delayed bone age, and congenital clubfoot. Skull x-ray demonstrated wormian bones." +601979,"{2:Sampson et al. (1997)} reported the case of an 11-year-old boy with severe growth failure, hepatomegaly, vasculitis, osteoporosis, and immune deficiency. Adventitious investigation showed gross hyperzincemia. On further investigation a previously undescribed plasma zinc-binding protein and abnormalities of zinc metabolism were found. The mass of the protein was 110,000 to 300,000 kD and it appeared to be composed of subunits. Kinetic studies of zinc metabolism in the patient and his mother with stable Zn isotopes showed the presence of increased exchangeable Zn, with a rapid flux from plasma to a stable pool. Liver and muscle Zn and Cu concentrations were raised, but with no abnormal liver histology. Immunoreactive metallothionein was increased in the liver. {2:Sampson et al. (1997)} suggested that the patient suffered from a previously unrecognized inborn error of zinc metabolism causing symptomatic zinc deficiency. Zinc deficiency had been suspected when the patient was admitted to hospital at the age of 9 years with worsening rash and diarrhea, symptoms that suggested the zinc deficiency type of acrodermatitis enteropathica ({201100}). The patient's symptoms were similar to those in the patients described by {1:Prasad et al. (1961)} in Iran with dwarfism, severe anemia, hypogonadism, hepatosplenomegaly, and dry, scaly skin. Plasma zinc is low in acrodermatitis enteropathica. Hyperzincemia occurs with a variant form of albumin, familial dysalbuminemic hyperzincemia ({194470}). The ethnic extraction of the patient reported by {2:Sampson et al. (1997)} was not stated." +601992,"Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by {2:Delatycki et al., 2000}).\n\nFor a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 ({229300}), which is caused by mutation in the FXN gene ({606829}) on chromosome 9q13." +602011,"Pancreatic endocrine tumors occur with increased frequency in individuals with the von Hippel-Lindau syndrome (VHL; {193300}). {1:Chung et al. (1997)} sought to determine whether allelic loss of the VHL tumor suppressor gene on 3p26-p25 occurs in the more common sporadic forms of these tumors. They identified allelic loss on 3p in 33% of 43 patients with endocrine tumors of the pancreas. The smallest common region of the allelic loss, however, centered not at the VHL locus, but rather at 3p25, centromeric to VHL. Furthermore, no mutations of the VHL gene were identified in these tumors. Loss of alleles on chromosome 3p was associated with clinically malignant disease, whereas tumors with retained 3p alleles were more likely to be benign. {1:Chung et al. (1997)} concluded that the VHL gene did not play a pathogenic role in sporadic pancreatic endocrine tumors but that a locus at 3p25 may harbor a novel pancreatic endocrine tumor suppressor gene, and allelic loss of this chromosomal region may serve as a molecular marker that helps distinguish benign from clinically malignant disease." +602014,"Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder characterized by very low serum magnesium levels. Hypocalcemia is a secondary consequence of parathyroid failure and parathyroid hormone resistance as a result of severe magnesium deficiency. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or tetany. Untreated, the disease may be fatal or lead to severe neurologic damage. Treatment includes immediate administration of magnesium, usually intravenously, followed by life-long high-dose oral magnesium (review by {5:Knoers, 2009}).\n\n<Subhead> Genetic Heterogeneity of Hypomagnesemia\n\nA form of hypomagnesemia due to kidney defects and high urinary magnesium excretion associated with hypocalciuria (HOMG2; {154020}) is caused by mutation in the FXYD2 gene ({601814}). Renal hypomagnesemia-3 (HOMG3; {248250}), associated with hypercalciuria and nephrocalcinosis, is caused by mutation in the CLDN16 gene ({603959}). Renal hypomagnesemia-4 (HOMG4; {611718}), which is normocalciuric, is caused by mutation in the EGF gene ({131530}). Renal hypomagnesemia-5 (HOMG5; {248190}), associated with hypercalciuria, nephrocalcinosis, and severe ocular involvement, is caused by mutation in the CLDN19 gene ({610036}). Renal hypomagnesemia-6 (HOMG6; {613882}) is caused by mutation in the CNNM2 gene ({607803}).\n\nPatients with Gitelman syndrome ({263800}) and Bartter syndrome (see {241200}) also show hypomagnesemia, and steatorrhea and severe chronic diarrhea states, such as Crohn disease (see {226600}) and Whipple disease, that can result in severe hypomagnesemia." +602032,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations." +602066,"Benign familial infantile convulsions (BFIC; see {601764}) is an autosomal dominant disorder characterized by afebrile seizures occurring between 3 and 12 months of age. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli.\n\nThe ICCA syndrome shares overlapping clinical features with benign familial infantile seizures-2 (BFIS2; {605751}) and episodic kinesigenic dyskinesia-1 (EKD1; {128200}), which are allelic disorders.\n\nSee also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp ({608105}), which maps to 16p." +602068,"Tegumentary leishmaniasis due to the parasite Leishmania braziliensis occurs in 2 stages after the infected sandfly bite: (1) a primary cutaneous lesion followed by (2) a secondary mucosal involvement generally resulting in severe facial deformities. To assess genetic and environmental factors involved in the development of the cutaneous lesion, {1:Alcais et al. (1997)} performed a family study in a region of Bolivia where the disease is endemic. This study involved 118 nuclear families, each with at least 1 cutaneous affected subject; 41 families were of native origin, and 77 (designated 'migrant') had recently settled in the area. The investigators concluded that in the 77 migrant families a recessive major gene controlled the onset of the primary cutaneous lesion, with residual familial dependencies and age-genotype interaction. Penetrance estimation showed that young subjects were genetically more susceptible than older subjects, suggesting that this genetic component could concern mechanisms involved in the development of individual protection during childhood. There was a significant genetic heterogeneity according to the native or migrant origin of the families, and no major-gene effect was found in the native subsample.\n\nLeishmania parasites in Latin America cause cutaneous (CL) and mucocutaneous leishmaniasis (MCL). MCL is associated with persistent inflammatory immune responses. Parasites from MCL patients reproduce the metastatic phenotype in a hamster model. Using DNA microarray analysis and metastatic and nonmetastatic Leishmania guyanensis clones in infected and uninfected mouse bone marrow-derived macrophages, {2:Ives et al. (2011)} observed increased expression of Ccl5 ({187011}), Cxcl10 ({147310}), Ifnb ({147640}), Tnf ({191160}), and Il6 ({147620}) after infection with metastatic parasites compared with nonmetastatic parasites or parasites obtained from CL patients. Induction of these proinflammatory cytokines and chemokines occurred in a Tlr3 ({603029})- and Trif (TICAM1; {607601})-dependent manner. Metastatic L. guyanensis expressed higher levels of a Leishmania double-stranded RNA virus, LRV1, and this virus alone induced high chemokine and cytokine expression. Mice lacking Tlr3 had decreased parasite burden and footpad swelling after infection compared with wildtype mice. {2:Ives et al. (2011)} concluded that recognition of LRV1 within metastatic Leishmania parasites promotes inflammation and subverts the immune response to Leishmania, leading to parasite persistence." +602078,"Congenital fibrosis of extraocular muscles-2 (CFEOM2) is an autosomal recessive disorder in which affected individuals are born with bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) ({3:Wang et al., 1998}, {2:Nakano et al., 2001}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of various forms of CFEOM, see CFEOM1 ({135700})." +602079,"Trimethylaminuria results from the abnormal presence of large amounts of volatile and malodorous trimethylamine within the body. This chemical, a tertiary aliphatic amine, is excreted in the urine, sweat (ichthyohidrosis), and breath, which take on the offensive odor of decaying fish ({14:Mitchell, 1996})." +602080,"Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by {6:Ralston et al. (2008)} and {5:Ralston and Albagha (2014)}.\n\nFor a discussion of genetic heterogeneity of Paget disease of bone, see {167250}." +602081,"Speech-language disorder-1 is an autosomal dominant disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals were originally thought to have specific defects in the use of grammatical suffixation rules ({8:Gopnik, 1990}; {7:Gopnik and Crago, 1991}). The phenotype, however, is broader in nature, with virtually every aspect of grammar and language affected ({2:Fisher et al., 1998}). {23:Vargha-Khadem et al. (1998)} concluded that the disorder is characterized by abnormal development of several brain areas critical for both orofacial movements and sequential articulation, resulting in marked disruption of speech and expressive language.\n\n<Subhead> Relation to Specific Language Impairment\n\nChildren who fail to develop expressive and/or receptive language normally, in the absence of explanatory factors such as neurologic disorders, hearing impairment, or lack of adequate opportunity, are clinically described as having specific language impairment (SLI; see {606711}) ({1:Bartlett et al., 2002}).\n\nSee also familial developmental dysphasia ({600117})." +602082,"Thiel-Behnke corneal dystrophy (CDTB) is characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions ({9:Thiel and Behnke, 1967})." +602083,Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Phenotypic distinctions are based on auditory and vestibular differences. Persons with forms of Usher syndrome type I ({276900}) have congenital severe to profound hearing loss and vestibular dysfunction. +602085,"For a phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}." +602086,"For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 ({107970})." +602087,"For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 ({107970})." +602089,"Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births ({5:Mulliken and Young, 1988}). Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations (see, e.g., CMC1, {163000}; {108010}; and CCM, {116860}), in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover ({8:Spring and Bentz, 2005}; {4:Legiehn and Heran, 2006}). {4:Legiehn and Heran (2006)} noted that the term 'hemangioma' in adults is considered inaccurate and should be discarded.\n\nMost hemangiomas occur sporadically, but some families with autosomal dominant inheritance have been reported ({9:Walter et al., 1999})." +602093,"Progressive cone dystrophy usually presents in childhood or early adult life, with many patients developing rod photoreceptor involvement in later life, thereby leading to considerable overlap between progressive cone dystrophy and cone-rod dystrophy. Both progressive cone dystrophy and cone-rod dystrophy have been associated with mutation in the GUCA1A gene ({5:Michaelides et al., 2006}).\n\nIntrafamilial variability in GUCA1A-associated macular disease ranges from mild photoreceptor degeneration to central areolar choroidal dystrophy (CACD), a form of retinal degeneration that primarily involves the macula and is characterized by a well-defined atrophic region of retinal pigment epithelium and choriocapillaris in the latest stage ({1:Chen et al., 2017})." +602096,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}." +602097,"Usher syndrome type I an autosomal recessive disorder characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa, and constant vestibular dysfunction (summary by {1:Chaib et al., 1997}).\n\nFor a discussion of genetic heterogeneity of USH type I, see {276900}." +602099,"Autosomal recessive juvenile amyotrophic lateral sclerosis-5 is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by {3:Orlacchio et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 ({105400})." +602124,"Idiopathic torsion dystonia (ITD) is a clinically and genetically heterogeneous group of movement disorders characterized by sustained dystonic muscle contractions causing involuntary twisting movements and/or postures, where causes such as cerebral lesions (especially of the basal ganglia), drugs, or other neurologic disorders have not been found. Adult-onset torsion dystonia usually remains focal and is localized in the upper part of the body (summary by {4:Leube et al., 1996})." +602134,"For a phenotypic description and a discussion of genetic heterogeneity of essential tremor, see ETM1 ({190300})." +602152,"RHYNS syndrome is characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and mild skeletal dysplasia ({3:Di Rocco et al., 1997})." +602197,"{1:Fletcher et al. (1997)} mapped to mouse chromosome 11 a leucine zipper protein gene (Cdr3) that shows considerable homology to cerebellar degeneration-related autoantigen-2 (CDR2; {117340}). From the location of the Cdr3 gene on chromosome 11, the homologous human gene, CDR3, was predicted to be located on 17q25." +602199,"{1:Kamijo et al. (1997)} concluded that deficiency of mitochondrial medium chain 3-ketoacyl-coenzyme A thiolase was responsible for the disorder of mitochondrial fatty acid beta-oxidation in a Japanese male neonate who died at 13 days of age. The patient presented at 2 days of age with vomiting, dehydration, metabolic acidosis, liver dysfunction, and terminal rhabdomyolysis with myoglobinuria. A systematic study of the catalytic activities of 9 enzymes of the beta-oxidation cycle using the respective optimal substrates revealed deficiency of a single enzyme not previously associated with a metabolic disorder. Immunoprecipitation with antibodies raised against medium chain 3-ketoacyl-CoA thiolase revealed a 60% decrease compared with controls." +602247,"{1:Vergopoulos et al. (1997)} studied a consanguineous Syrian kindred containing 6 individuals homozygous for a cys646-to-arg mutation in the LDLR gene ({606945}) resulting in familial hypercholesterolemia ({143890}). Half of the homozygotes had giant xanthomas, while half did not, even though their LDL-cholesterol concentrations were elevated to similar degrees. Heterozygous FH individuals in this family were also clearly distinguishable with respect to xanthoma size. Segregation analysis suggested the existence in this family of a second gene that determined the development of giant xanthomas when present in combination with the cys646-to-arg mutation." +602252,See TIM10 ({602251}) and {1:Koehler et al. (1998)}. +602271,"Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on electroretinogram. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora (summary by {7:Suzuki et al., 2011})." +602340,"{1:Innis et al. (1998)} described a family with an apparently 'new' autosomal recessive disorder characterized by early-onset sensorineural hearing loss, abnormal retinal pigment epithelium granularity, accumulation of creamy-white lesions at the level of the retinal pigment epithelium, particularly superior to the arcade of retinal vessels, and brown discoloration of molars or canine deciduous teeth. Two brothers and a sister in a sibship of 4 were affected." +602342,"Pierpont syndrome is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by {1:Burkitt Wright et al., 2011})." +602361,"Gracile bone dysplasia is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia (summary by {11:Unger et al., 2013})." +602390,"Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age. The common complications of iron overload, including liver cirrhosis, cardiac disease, endocrine failure, diabetes, arthropathy, and skin pigmentation, are similar to those of adult-onset hereditary hemochromatosis, but hypogonadism and cardiomyopathy are the most common symptoms at presentation. Heart failure and/or major arrhythmias are usually the cause of death in the absence of treatment. Early detection of the disorder is important because iron depletion by phlebotomy can prevent organ damage and all disease manifestations (summary by {19:Roetto et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Hemochromatosis Type 2\n\nHemochromatosis type 2B (HFE2B; {613313}) is caused by mutation in the hepcidin gene (HAMP; {606464}) on chromosome 19q13." +602398,"Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by {7:Waterham et al., 2001})." +602400,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {7:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({10:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {6:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by {8:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {5:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300})." +602401,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-8 is an autosomal recessive disorder characterized by abnormal development of hair, teeth, and nails." +602404,"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}." +602421,"The CFTR gene encodes an ATP-binding cassette (ABC) transporter that functions as a low conductance Cl(-)-selective channel gated by cycles of ATP binding and hydrolysis at its nucleotide-binding domains (NBDs) and regulated tightly by an intrinsically disordered protein segment distinguished by multiple consensus phosphorylation sites termed the regulatory domain (summary by {262:Wang et al., 2014})." +602429,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}." +602433,"Juvenile amyotrophic lateral sclerosis-4 (ALS4) is an autosomal dominant disorder characterized by distal muscle weakness and atrophy, normal sensation, and pyramidal signs, with onset of symptoms before the age of 25 years, a slow rate of progression, and a normal life span (summary by {3:Chen et al., 2004}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400})." +602440,"Monomelic amyotrophy, also known as Hirayama disease, is characterized by insidious onset of weakness and wasting of the muscles of the hand and forearm. It is usually unilateral, but can be bilateral. It occurs most commonly as a sporadic condition, is most common in young men, and follows a relatively benign course after a few years of progression ({9:Nalini et al., 2004}; {8:Misra et al., 2005})." +602447,"Members of the paraoxonase ({EC 3.1.1.2}) gene family, such as PON2, encode high density lipoprotein (HDL)-related glycoproteins with multienzymatic properties ({4:Lu et al., 2006})." +602459,"Autosomal dominant deafness-15 is a form of progressive nonsyndromic sensorineural hearing loss with postlingual onset between the second and sixth decades of life (summary by {3:Kim et al., 2013})." +602471,"Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) is an autosomal recessive multiple congenital anomaly syndrome with features of a first and second branchial arch syndrome. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Additional features include rhizomelic skeletal anomalies as well as abnormalities of the shoulder and pelvic joints. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes (summary by {2:Parry et al., 2013})." +602472,"{1:Stratton (1998)} described a 16-month-old girl with tall stature, hypotonia, unusual facial appearance, acquired microcephaly, advanced bone age without apparent sexual precocity, and symmetric horizontal creases below the earlobes." +602473,"Ethylmalonic encephalopathy (EE) is an autosomal recessive severe metabolic disorder of infancy affecting the brain, gastrointestinal tract, and peripheral vessels. The disorder is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea. Brain MRI shows necrotic lesions in deep gray matter structures. Death usually occurs in the first decade of life (summary by {3:Drousiotou et al., 2011})." +602475,"Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common degenerative spinal disorder that causes severe neurologic dysfunction in middle-aged and elderly populations. This ectopic ossification results in compression of the spinal cord and nerve root by the ossified ligament. Histologic studies of OPLL suggest that OPLL develops through a process of endochondral ossification (summary by {6:Nakajima et al., 2016})." +602477,"Mutation in the HCN2 gene can cause a spectrum of seizure disorders beginning in childhood or adolescence. Affected individuals may have simple febrile seizures or more complex afebrile seizures, including tonic-clonic, myoclonic, and photosensitive. Rare patients may have mild intellectual disability or behavioral problems (summary by {5:Li et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see EIG ({600669}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 ({121210}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}." +602483,"Auriculocondylar syndrome (ARCND) is an autosomal dominant disorder of the first and second pharyngeal arches and is characterized by malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia (summary by {7:Masotti et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Auriculocondylar Syndrome\n\nAuriculocondylar syndrome-2 (ARCND2; {614669}) is caused by mutation in the PLCB4 gene ({600810}) on chromosome 20p12.3-p12.2. ARCND3 ({615706}) is caused by mutation in the EDN1 gene ({131240}) on chromosome 6p24.\n\nSee also {612798} for isolated question mark ears." +602497,"For a general phenotypic description and discussion of genetic heterogeneity of chondrodysplasia punctata, see CDPX2 ({302960})." +602501,"Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria (summary by {12:Mirzaa et al., 2012}). This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome ({4:Conway et al., 2007}). {12:Mirzaa et al. (2012)} suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria." +602522,"Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed ({11:Simon et al., 1997}).\n\nPatients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by {12:Simon et al., 1996} and {3:Fremont and Chan, 2012}).\n\nFor a discussion of genetic heterogeneity of Bartter syndrome, see {607364}." +602535,"The Marshall-Smith syndrome (MRSHSS) is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia ({1:Adam et al., 2005})." +602541,"Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by {2:Mitsuhashi et al., 2011})." +602551,"Jejunal atresia ({243600}) occurs in several forms, one of which type IIIb ('apple peel' syndrome), most commonly shows familial occurrence. Renal adysplasia ({191830}) is inherited as an autosomal dominant.\n\n{1:Kilani et al. (1996)} reported a woman with absence of the left kidney and dysplastic right kidney, who was born with type II jejunal atresia (proximal jejunal atresia). The twin offspring of this woman had similar malformations: bilateral cysts in the renal cortex and type I jejunal atresia were found in the girl, while her twin brother had type I jejunal atresia and histologically proven renal dysplasia.\n\nThis family supports the opinion that types I and II jejunal atresia have a common etiology, and confirms the variability of renal abnormalities produced by the same gene. The authors suggested that this association of abnormalities is a previously undescribed syndrome with autosomal dominant inheritance." +602553,"An association of anal atresia with penoscrotal inversion ('shawl scrotum') and hypospadias in males or with biseptate uterus in females is common for persons with distal deletion of 13q, but relatively uncommon for persons with normal karyotype. {1:Bartsch et al. (1996)} described 2 unrelated males with malformations of the anogenital region and deletions of 13q32.2qter and 13q32q34, respectively. {1:Bartsch et al. (1996)} concluded that segment 13q32.2q34 must harbor one or more developmental genes that produce anogenital anomalies due to the loss of normal homozygosity. Deletion of the same segment of chromosome 13 has been found in other patients with these abnormalities ({3:Carmichael et al., 1977}; {4:Vittu et al., 1989}; {2:Brown et al., 1993})." +602554,"{1:Mostofsky et al. (1996)} reported a father and his daughter with torsion dystonia that could not be attributed to exogenous factors or other neurologic disorders. The first signs of the disorder in both patients appeared during the first year of life. The main manifestations included generalized dystonia with severe involvement of the legs and mild involvement of the face and arms, no progression of symptoms after 10 years of age, no evidence of parkinsonism, and no intellectual, cerebellar, or sensory involvement. Among 850 cases of idiopathic torsion dystonia ({128100}) collected from the literature, the authors found only 2 reports with onset before 3 years of age; the inheritance pattern in these 2 cases was not reported. No response to dopaminergic agents excluded dopa-responsive dystonia ({128230}). {1:Mostofsky et al. (1996)} suggested that the disorder in this family may represent a distinct autosomal dominant dystonia syndrome." +602556,"{1:Courtens et al. (1997)} described a boy with median cleft palate, bilateral mixed hearing loss, clino- and camptodactyly, single palmar creases, severe hypotonia with kyphoscoliosis and respiratory insufficiency, coxa valga, and facial dysmorphism, which includes epicanthus, flat nasal bridge, microstomia, low-set ears, and micrognathia. His short-statured mother had median cleft palate, single palmar creases, and bilateral early-onset hearing loss. The authors suggested that this association is a distinct syndrome with autosomal or X-linked dominant inheritance. The syndrome shares many manifestations with Gordon syndrome ({114300}), but hearing loss was not mentioned in the reported cases of Gordon syndrome." +602557,"Shohat-type spondyloepimetaphyseal dysplasia (SEMDSH) is a chondrodysplasia characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distention with hepatosplenomegaly (summary by {1:Egunsola et al., 2017})." +602564,"{1:Lynch and Bushby (1997)} reported an 8-year-old boy with obesity, mental retardation, downslanting palpebral fissures, large ears, sensorineural deafness, cryptorchidism, and a penoscrotal web. He had congenital emphysema, and the upper lobe of his left lung was removed. He was born to healthy, unrelated parents and had a normal karyotype. {1:Lynch and Bushby (1997)} excluded Prader-Willi syndrome ({176270}). They suggested that this association may be a previously unreported syndrome of multiple congenital abnormalities." +602579,"Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin ({7:Leroy, 2006}).\n\nFor a discussion of the classification of CDGs, see CDG1A ({212065}).\n\nCDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhea with failure to thrive and protein-losing enteropathy with coagulopathy. Some patients develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated ({8:Marquardt and Denecke, 2003}). Thus, CDG Ib should be considered in the differential diagnosis of patients with unexplained hypoglycemia, chronic diarrhea, liver disease, or coagulopathy in order to allow early diagnosis and effective therapy ({13:Vuillaumier-Barrot et al., 2002})\n\n{4:Freeze and Aebi (1999)} reviewed CDG Ib and CDG Ic ({603147}). {9:Marques-da-Silva et al. (2017)} systematically reviewed the literature concerning liver involvement in CDG." +602588,"Individuals with the BO syndrome are affected by the same branchial and otic anomalies as those seen in individuals with the branchiootorenal syndrome (see BOR1, {113650}), but lack renal anomalies ({16:Vincent et al., 1997}).\n\nAlthough {12:Melnick et al. (1978)} maintained that the BO syndrome is distinct from the BOR syndrome because of the lack of renal anomalies and variable presence of deafness in the former, {3:Cremers and Fikkers-van Noord (1980)} suggested that the 2 syndromes represent a single entity.\n\nSee {113600} for a discussion of branchial cleft anomalies, which may be related.\n\n<Subhead> Genetic Heterogeneity of Branchiootic Syndrome\n\nSee also BOS2 ({120502}), which maps to chromosome 1, and BOS3 ({608389}), which maps to 14q23 and is caused by mutations in the SIX1 gene ({601205})." +602594,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +602596,{1:James et al. (1998)} described a brother and sister who presented in their sixties with high-grade B-cell lymphoma affecting the pancreas. Both responded well to chemotherapy and were in remission at the time of report. On further investigation it was found that their mother had presented with a malignant lymphoma of cervical nodes 30 years earlier and died from the disease. The authors found no reports of other cases of familial pancreatic lymphoma. +602611,"{1:Nishimura et al. (1998)} reported the cases of 4 Japanese sibs (3 brothers and a sister) with an apparently previously unreported syndrome of spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and mental retardation. Most clinical manifestations were evident neonatally, but skeletal changes and cataracts became substantial in early childhood. Radiologic anomalies comprised coronal synostosis, mild epiphyseal dysplasia, particularly in the distal tibias, strikingly delayed patellar ossification, mild metaphyseal splaying, hypoplastic ilia with iliac flare, and platyspondyly with ovoid-shaped or posteriorly humped vertebral bodies. The nonconsanguineous parents were mildly mentally retarded, and sibs of both gender were equally affected; thus, autosomal recessive inheritance was considered likely by the authors. The cleft palate was associated with micrognathia. The skeletal changes gave rise to mild micromelia in infancy and short trunk with thoracolumbar kyphoscoliosis in late childhood." +602612,"In a 13-year-old Turkish girl and her 11-year-old brother, {2:Kilic et al. (1998)} described a syndrome of camptodactyly, fibrosis of the medial rectus muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis. The girl also had ptosis. The children were intellectually normal. The parents were normal but consanguineous. The syndrome characterized by camptodactyly and joint contractures associated with multiple eye anomalies including ptosis, exophthalmos, and strabismus had been described in a 16-year-old Jewish girl by {3:Rozin et al. (1984)}. She also had short stature and scoliosis, and her facial features were similar to those reported by {2:Kilic et al. (1998)}. Parental consanguinity was found in that family also. Differences from other camptodactyly syndromes were reviewed.\n\n{1:Garcia-Ortiz et al. (2006)} reported a 25-year-old Mexican man with a facial gestalt and other features similar to those of the patients previously described by {3:Rozin et al. (1984)} and {2:Kilic et al. (1998)}, including ptosis, camptodactyly, flexion contractures, and scoliosis. The patient also had mental retardation, possibly a consequence of neonatal hypoxia, and had additional skeletal features including segmentation anomalies of the spine and carpal synostosis. {1:Garcia-Ortiz et al. (2006)} suggested that the skeletal changes might represent the natural history of this disorder; or, together with the mental retardation, might indicate a microdeletion syndrome. The patient died suddenly during sleep at age 25; no autopsy was done." +602613,"{1:Khosravi et al. (1998)} described 3 sibs (2 males, 1 female) with multiple congenital anomalies, poor growth, seizures, and progressive central nervous system degeneration leading to death in infancy. Radiographic changes were similar and included moderate shortness of long bones, platyspondyly, and hypoplastic pelvis. Autopsies showed diffuse encephalomyelopathy and enlargement of the lateral and third ventricles. Lysosomal enzyme activities were normal. Collagen type II analysis on 2 of the sibs indicated normal collagen. Although the radiographic and chondroosseous morphologic findings in these sibs bore certain similarities to Dyggve-Melchior-Clausen syndrome ({223800}), their clinical course did not fit that condition. Thus, {1:Khosravi et al. (1998)} suggested that they represent a new syndrome of bone dysplasia and CNS degeneration inherited as an autosomal recessive. Two of the sibs died at age 5 months; 1 died at the age of almost 4 months after being on respiratory assistance for 7 weeks." +602629,"Dystonia-6 is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by {7:Djarmati et al., 2009}).\n\n{2:Blanchard et al. (2011)} provided a review of dystonia-6 and the THAP1 gene." +602639,"For a phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 ({106600})." +602668,"Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by {8:Heatwole et al., 2011}).\n\nSee also myotonic dystrophy-1 (DM1; {160900}), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK; {605377}) on 19q13.\n\nAlthough originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 ({33:Udd et al., 2003})." +602685,"{1:Mitchell et al. (1998)} reported observations of 9 individuals in a large extended Pakistani family manifesting a syndrome characterized by a triad of varying degrees of spasticity, severe mental retardation, and visual impairment resulting from tapetoretinal degeneration. In all cases, the parents were at least first cousins, since there was complex consanguinity within the pedigree. The clinical features differed from previously reported syndromes involving pigmentary retinal degeneration (which were reviewed in a useful table). Linkage to a 4- to 5-cM region between markers D15S211 and D15S152 on 15q24 was established by autozygosity mapping." +602759,"For a general discussion of hereditary prostate cancer, see {176807}." +602771,"Desmin-related myopathies (DRM) are a clinically and genetically heterogeneous group of muscular disorders defined morphologically by intrasarcoplasmic aggregates of desmin (DES; {125660}), usually accompanied by other protein aggregates. Approximately one-third of DRM are caused by mutations in the desmin gene ({7:Ferreiro et al., 2004}).\n\nFor other forms of DRM, see primary desminopathy ({601419})." +602782,"The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC described an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by {17:Morgan et al., 2010}). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by {12:Kismet et al., 2005}). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients ({4:Cliffe et al., 2009}). {2:Bolze et al. (2012)} noted that mutations in the SLC29A3 gene ({612373}) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' {2:Bolze et al. (2012)} suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders ({1:Avitan-Hersh et al., 2011}; {6:Colmenero et al., 2012})." +602849,"Muenke syndrome is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay. Other more variable features include thimble-shaped middle phalanges, brachydactyly, carpal/tarsal fusion, and deafness. The phenotype is variable and can range from no detectable clinical manifestations to complex findings (summary by {1:Abdel-Salam et al., 2011})." +602875,"The acromesomelic dysplasias are disorders in which there is disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton.\n\nAcromesomelic dysplasia-1 (AMD1) is characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by {3:Faivre et al., 2000}).\n\n<Subhead> Genetic Heterogeneity of Acromesomelic Dysplasia\n\nAdditional autosomal recessive forms of acromesomelic dysplasia include acromesomelic dysplasia-2A ({200700}), -2B ({228900}), and -2C ({201250}), all caused by mutation in the GDF5 gene ({601146}) on chromosome 20q11; AMD3 ({200700}), caused by mutation in the BMPR1B gene ({603248}) on chromosome 4q22; and AMD4 ({619636}), caused by mutation in the PRKG2 gene ({601591}) on chromosome 4q21.\n\nAn autosomal dominant form of acromesomelic dysplasia has also been reported (see {112910})." +602966,"For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see {119530}." +602994,"{1:Smith et al. (1995)} and {2:Wang et al. (1996)} reported that orbital fibroblasts are especially sensitive to the lymphokine leukoregulin, a 50-kD product of activated T lymphocytes. Leukoregulin can markedly upregulate the synthesis of hyaluronan ({1:Smith et al., 1995}) and the expression of prostaglandin-endoperoxide H synthase 2 (PTGS2; {600262}), the inflammatory cyclooxygenase. In both instances, the cytokine actions in orbital fibroblasts were of much greater magnitude than those observed in dermal fibroblasts, making leukoregulin a candidate molecular trigger for both the pathologic accumulation of hyaluronan and inflammation associated with TAO (thyroid-associated ophthalmopathy), the orbital manifestation of Graves disease. {3:Young et al. (1998)} used giant 2-dimensional gel electrophoresis to demonstrate that orbital fibroblasts expressed constitutively a protein profile that distinguishes them from skin fibroblasts derived from the abdominal wall and from the pretibium. They further demonstrated that leukoregulin, when present in culture medium for 16 hours, upregulates a set of orbital fibroblast proteins not present in untreated cultures or in fibroblasts from the abdominal wall. However, some of the same protein inductions are present in the pretibial fibroblasts. These leukoregulin-induced changes in protein expression were completely blocked by dexamethasone. This was the first identification of proteins that appear to be expressed and differentially regulated in an anatomical site-restricted manner in orbital and pretibial fibroblasts and seem to establish a molecular link between fibroblasts from the orbit and those in pretibial skin. This study provided an explanation for the pretibial dermopathy that is observed in association with TAO. A dramatic accumulation of the nonsulfated glycosaminoglycan hyaluronan in orbital connective tissue and extraocular muscles is often accompanied by a similar accumulation in the skin of the shins." +603013,"For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see {181500}." +603034,"Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (summary by {4:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +603040,"In an analysis of 79 nonsmall cell lung carcinomas, {1:Iizuka et al. (1995)} identified a 5-cM region on chromosome 11q23 that is commonly deleted. In addition to this identification by loss of heterozygosity (LOH), the presence of a tumor suppressor gene on 11q in NSCLCs was also demonstrated by use of a functional assay. A549, a human NSCLC-derived cell line, shows complete loss of one copy of chromosome 11. When a chromosome 11 from a non-NSCLC cell line was introduced into A549 cells by microcell-mediated chromosome transfer, the transformed phenotype was lost as measured by several growth parameters and suppression of tumorigenicity in nude mice ({3:Satoh et al., 1993}). Although this assay clearly implicated chromosome 11, it did not provide the information on the precise chromosomal localization of the tumor suppressor gene. LOH had indicated the location as 11q23. {2:Murakami et al. (1998)} modified 3 YAC clones spanning the minimal loss of heterozygosity region, and used spheroplast fusion to transfer them into human A549 NSCLC or murine Lewis lung cancer (LLC) cell lines. Injection of parental A549 cells into athymic (nu/nu) mice resulted in tumor formation in 27 of 28 injection sites. In contrast, 2 independent cell lines containing the DNA segment from 11q23 formed tumors at only 3 of 20 injection sites. Cells containing the same transferred segment also suppressed tumor formation by LLC NSCLC cells in nude mice. Further localization of tumor suppression activity was accomplished by introduction of defined fragmentation derivatives into A549 cells and by analysis of YACs that were broken on transfer into LLC cells. The complementation approach localized tumor suppression activity to the central 700 kb of the critical clone and provided a functional assay for positional cloning of this tumor suppressor gene." +603041,"Mitochondrial DNA depletion syndrome-1 (MTDPS1) is an autosomal recessive progressive multisystem disorder clinically characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia (PEO), gastrointestinal dysmotility (often pseudoobstruction), cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction. Mitochondrial DNA abnormalities can include depletion, deletion, and point mutations ({30:Taanman et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Mitochondrial DNA Depletion Syndromes\n\nMitochondrial DNA depletion syndromes are clinically and genetically heterogeneous, and most are autosomal recessive disorders. See also MTDPS2 ({609560}), caused by mutation in the TK2 gene ({188250}); MTDPS3 ({251880}), caused by mutation in the DGUOK gene ({601465}); MTDPS4A ({203700}) and MTDPS4B ({613662}), both caused by mutation in the POLG gene ({174763}); MTDPS5 ({612073}), caused by mutation in the SUCLA2 gene ({603921}); MTDPS6 ({256810}), caused by mutation in the MPV17 gene ({137960}); MTDPS7 ({271245}), caused by mutation in the C10ORF2 gene ({606075}); MTDPS8A ({612075}) and MTDPS8B (see {612075}), both caused by mutation in the RRM2B gene ({604712}); MTDPS9 ({245400}), caused by mutation in the SUCLG1 gene ({611224}); MTDPS10 ({212350}), caused by mutation in the AGK gene ({610345}); MTDPS11 ({615084}), caused by mutation in the MGME1 gene ({615076}); MTDPS12A ({617184}) and MTDPS12B ({615418}), both caused by mutation in the SLC25A4 gene ({103220}); MTDPS13 ({615471}), caused by mutation in the FBXL4 gene ({605654}); MTDPS14 ({616896}), caused by mutation in the OPA1 gene ({605290}); MTDPS15 ({617156}), caused by mutation in the TFAM gene ({600438}); MTDPS16 ({618528}), caused by mutation in the POLG2 gene ({604983}); MTDPS17 ({618567}), caused by mutation in the MRM2 gene ({606906}); MTDPS18 ({618811}), caused by mutation in the SLC25A21 gene ({607571}); MTDPS19 ({618972}), caused by mutation in the SLC25A10 gene ({606794}); and MTDPS20 ({619780}), caused by mutation in the LIG3 gene ({600940})." +603047,"Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by {1:Clementi et al., 1998})." +603075,"Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by {17:De et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Age-Related Macular Degeneration\n\nARMD2 ({153800}) is associated with mutation in the ABCR gene ({601691}) on chromosome 1p, and ARMD3 ({608895}) is caused by mutation in the FBLN5 gene ({604580}) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4; {610698}) appears to be explained by a polymorphism in the CFH gene ({134370.0008}). ARMD5 ({613761}) and ARMD6 ({613757}) are associated with mutation in the ERCC6 ({609413}) and RAX2 ({610362}) genes, respectively. ARMD7 ({610149}) and ARMD8 ({613778}), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 ({602194}) and ARMS2 ({611313}) genes, respectively. ARMD9 ({611378}) is associated with single-nucleotide polymorphisms in the C3 gene ({120700}). ARMD10 ({611488}) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene ({603030}). ARMD11 ({611953}) is association with variation in the CST3 gene ({604312}); ARMD12 ({613784}) with variation in the CX3CR1 gene ({601470}); and ARMD13 ({615439}) with variation in the CFI gene ({217030}). ARMD14 ({615489}) is associated with variation in or near the C2 ({613927}) and CFB ({138470}) genes on chromosome 6p21. ARMD15 ({615591}) is associated with variation in the C9 gene ({120940}). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 ({590050}).\n\nA haplotype carrying deletion of the complement factor H-related genes CFHR1 ({134371}) and CFHR3 ({605336}) is also associated with reduced risk of ARMD.\n\n{54:Lotery and Trump (2007)} reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found." +603117,"{1:Teebi et al. (1998)} reported 2 female sibs born to first-cousin Iranian parents. Both children had spastic paraplegia, optic atrophy with poor vision, microcephaly, and normal cognitive development. Karyotype analysis showed a normal 46,XX pattern in 1 sib and 46,XY in the other. The XY female showed normal female external genitalia, normal uterus and fallopian tubes, and streak gonads. SRY gene ({480000}) sequencing was normal. {1:Teebi et al. (1998)} concluded that this constellation of features could represent a previously unrecognized syndrome either in the category of syndromic hereditary spastic paraplegia or XY sex reversal. They also concluded that the presence of parental consanguinity and the involvement of sibs of both genotypes were suggestive of autosomal recessive inheritance." +603119,"{1:Defazio et al. (1998)} described 10 new patients with 'so-called apraxia of eyelid opening.' They concluded that the term 'apraxia' may not be the correct descriptive term even when the eyelid disturbance occurs without any other central nervous system disease. Familial clustering of the isolated finding in 1 patient was consistent with a genetic contribution: 2 brothers, their father, and 2 paternal aunts were thought to be affected. Combining their 10 patients with 11 previously reported cases of isolated so-called apraxia of eyelid opening, {1:Defazio et al. (1998)} found that the peak age at onset was the sixth decade and that there was a female preponderance of 2 to 1. The characteristic inability to initiate lid elevation was frequently associated with failure to sustain lid elevation, thus suggesting that eyelid motor control may be abnormal. The authors suggested that the extrapyramidal system is involved in the pathophysiology of isolated apraxia of eyelid opening." +603147,"Congenital disorders of glycosylation, previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are caused by defects in mannose addition during N-linked oligosaccharide assembly. CDGs can be divided into 2 types, depending on whether they impair lipid-linked oligosaccharide (LLO) assembly and transfer (CDG I), or affect trimming of the protein-bound oligosaccharide or the addition of sugars to it (CDG II) ({7:Orlean, 2000}).\n\nCDG Ic is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy. It is the second largest subtype of CDG (summary by {8:Sun et al., 2005}).\n\nFor a discussion of the classification of CDGs, see CDG1A ({212065}).\n\n{2:Freeze and Aebi (1999)} reviewed CDG Ib ({602579}) and CDG Ic." +603165,"Atopic dermatitis (ATOD), also known as eczema, is a common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life (review by {13:Soderhall et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Atopic Dermatitis\n\nMany inflammatory diseases, such as atopic eczema, are genetically complex, with multiple alleles at several loci thought to be involved in their pathogenesis. Several susceptibility loci for atopic dermatitis have been identified: ATOD1 on chromosome 3q21, ATOD2 ({605803}) on chromosome 1q21, ATOD3 ({605804}) on chromosome 20p, ATOD4 ({605805}) on chromosome 17q25.3, ATOD5 ({603165}) on chromosome 13q12-q14, ATOD6 ({605845}) on chromosome 5q31-q33, ATOD7 ({613064}) on chromosome 11q13.5, ATOD8 ({613518}) on chromosome 4q22.1, and ATOD9 ({613519}) on chromosome 3p24." +603174,"Hyperhomocysteinemia refers to above-normal concentrations of plasma/serum homocysteine. Plasma/serum homocysteine is the sum of the thiol-containing amino acid homocysteine and the homocysteinyl moiety of the disulfides homocystine and cysteine-homocysteine, whether free or bound to proteins ({21:Malinow and Stampfer, 1994}).\n\nHyperhomocysteinemia in isolation may be associated with an increased risk of atherosclerosis and recurrent arterial and venous thrombosis usually in the third or fourth decade of life (review by {41:Welch and Loscalzo, 1998}).\n\nHomocysteinemia is also a feature of several inherited metabolic disorders, including homocystinuria ({236200}), due to mutation in the CBS gene ({613381}), and N(5,10)-methylenetetrahydrofolate reductase deficiency ({236250}), caused by mutation in the MTHFR gene ({607093}). Homocysteinemia/homocystinuria and megaloblastic anemia can result from defects in vitamin B12 (cobalamin; cbl) metabolism, which have been classified according to complementation groups of cells in vitro; see cblE ({236270}) and cblG ({250940}). See also the various forms of combined methylmalonic aciduria (MMA) and homocystinuria due to disorders of cobalamin: cblC ({277400}), cblD ({277410}), and cblF ({277380})." +603188,"For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see {606641}." +603194,"Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 ({249000})." +603204,"Nocturnal frontal lobe epilepsy-2 (ENFL2) is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations (summary by {1:Derry et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 ({600513})." +603209,"N-glycolylneuraminic acid (NeuGc), a sialic acid involved in cell-cell recognition and cell-pathogen interactions, is abundantly expressed in most mammals but is not detectable in humans. The expression of NeuGc is controlled by cytidine monophospho-N-acetylneuraminic acid (CMP-NeuAc) hydroxylase activity, which in humans is inactivated by a deletion in the CMAHP pseudogene that renders the enzyme nonfunctional (summary by {2:Irie et al., 1998})." +603221,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +603233,"Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid hormone (PTH; {168450}). Pseudohypoparathyroidism type Ib is characterized clinically by isolated renal PTH resistance manifest as hypocalcemia, hyperphosphatemia, and increased serum PTH. Biochemical studies show a decreased response of urinary cAMP to exogenous PTH, but normal Gs activity in erythrocytes because the defect is restricted to renal tubule cells. In contrast to the findings in PHP Ia, patients with PHP Ib usually lack the physical characteristics of Albright hereditary osteodystrophy (AHO) and typically show no other endocrine abnormalities, although resistance to thyroid-stimulating hormone (TSH; {188540}) has been reported in PHP Ib ({19:Levine et al., 1983}, {12:Heinsimer et al., 1984}). However, patients with PHP Ib may rarely show some features of AHO ({27:Mariot et al., 2008}).\n\nFor a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A ({103580})." +603278,"Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; {256300}), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by {4:D'Agati et al., 2004}; {10:Mathis et al., 1998}).\n\n{5:D'Agati et al. (2011)} provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte.\n\nBecause of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature.\n\n<Subhead> Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic Syndrome\n\nFocal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 ({603965}), caused by mutation in the TRPC6 gene ({603652}); FSGS3 ({607832}), associated with variation in the CD2AP gene ({604241}); FSGS4 ({612551}), mapped to chromosome 22q12; FSGS5 ({613237}), caused by mutation in the INF2 gene ({610982}); FSGS6 ({614131}), caused by mutation in the MYO1E gene ({601479}); FSGS7 ({616002}), caused by mutation in the PAX2 gene ({167409}); FSGS8 ({616032}), caused by mutation in the ANLN gene ({616027}); FSGS9 ({616220}), caused by mutation in the CRB2 gene ({609720}); and FSGS10 ({256020}), caused by mutation in the LMX1B gene ({602575}).\n\nSee also NPHS1 ({256300}), caused by mutation in the NPHS1 gene ({602716}); NPHS2 ({600995}), caused by mutation in the podocin gene ({604766}); NPHS3 ({610725}), caused by mutation in the PLCE1 gene ({608414}); NPHS4 ({256370}), caused by mutation in the WT1 gene ({607102}); NPHS5 ({614199}), caused by mutation in the LAMB2 gene ({150325}); NPHS6 ({614196}), caused by mutation in the PTPRO gene ({600579}); NPHS7 ({615008}), caused by mutation in the DGKE gene ({601440}); NPHS8 ({615244}), caused by mutation in the ARHGDIA gene ({601925}); NPHS9 ({615573}), caused by mutation in the COQ8B gene ({615567}); NPHS10 ({615861}), caused by mutation in the EMP2 gene ({602334}); NPHS11 ({616730}), caused by mutation in the NUP107 gene ({607617}); NPHS12 ({616892}), caused by mutation in the NUP93 gene ({614351}); NPHS13 ({616893}), caused by mutation in the NUP205 gene ({614352}); NPHS14 ({617575}), caused by mutation in the SGPL1 gene ({603729}); NPHS15 ({617609}), caused by mutation in the MAGI2 gene ({606382}); NPHS16 ({617783}), caused by mutation in the KANK2 gene ({614610}), NPHS17 ({618176}), caused by mutation in the NUP85 gene ({170285}); NPHS18 ({618177}), caused by mutation in the NUP133 gene ({607613}); NPHS19 ({618178}), caused by mutation in the NUP160 gene ({607614}); NPHS20 ({301028}), caused by mutation in the TBC1D8B gene ({301027}); and NPHS21 ({618594}) caused by mutation in the AVIL gene ({613397})." +603323,"{1:Echenne et al. (1998)} described 4 patients, 2 of whom were sibs, with congenital muscular dystrophy, mild intellectual impairment, and moderate to severe cerebellar atrophy. In addition, they referred to 4 earlier reports of sporadic cases with isolated cerebellar atrophy with features of the Dandy-Walker syndrome in the presence of congenital myopathy. Onset of the disorder in the patients reported by {1:Echenne et al. (1998)} was neonatal in 2 cases and at 3 and 7 months in the others. The brother and sister were 13 and 16 years of age at follow-up. Creatine kinase was markedly elevated. Merosin, dystrophin, and sarcoglycan immunostaining of skeletal muscle showed no abnormality. The authors believed the disorder could be differentiated from the dystroglycanopathies Fukuyama congenital muscular dystrophy ({253800}), Walker-Warburg syndrome, and muscle-eye-brain disease (see, e.g., {236670}). They suggested that congenital muscular dystrophy with cerebellar atrophy is a distinct autosomal recessive disorder." +603324,"Gap junctions are conduits that allow the direct cell-to-cell passage of small cytoplasmic molecules, including ions, metabolic intermediates, and second messengers, and thereby mediate intercellular metabolic and electrical communication. Gap junction channels consist of connexin protein subunits, which are encoded by a multigene family that includes GJB3 (summary by {12:Richard et al., 1998}; {16:Wenzel et al., 1998})." +603373,"Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see {118860}) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies ({231090}), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors ({1:Grossmann et al., 1997})." +603376,"Fatty-acid oxidation has a major role in energy production during periods of fasting. When body glucose is depleted, fatty acids are mobilized from adipose tissue, taken up by the liver, and converted to ketone bodies, a major alternative source of energy for peripheral tissues. At the cellular level, after being transported through the cell membrane and then into the mitochondria by means of a carnitine-dependent system, long chain fatty acids are predominantly oxidized in mitochondria. {1:Al Odaib et al. (1998)} described 2 unrelated young boys who presented with acute liver failure and were found to have a defect in the transport of long chain fatty acids. In 1 patient, the first episode of hepatic failure occurred at the age of 1 year; there were 7 additional episodes of acute liver failure over the next 4 years, leading to the necessity for orthotopic liver transplantation. The second patient had been in good health until age 4 years when he presented with otitis media, which was treated with amoxicillin, and signs of liver failure with mild encephalopathy. Again, orthotopic liver transplantation was performed. Of particular interest was the absence of fatty infiltration of the liver in these 2 patients, a finding that was initially interpreted as incompatible with an underlying disorder of fatty acid oxidation. In these patients, the failure of extensive biochemical investigations to reveal abnormal levels of metabolites in plasma and urine, together with the finding of abnormal fatty acid oxidation in vitro, raised the suspicion of a defect located upstream of the transport of long chain fatty acids through the mitochondrial membranes. This hypothesis was confirmed by the finding that the oxidation of myristic acid and palmitic acid increased after permeabilization of fibroblast plasma membranes with digitonin, by the correlation between the severity of the defect and the length of the substrate tested, and by the presence of normal uptake of other substrates. After permeabilization of fibroblast membranes, cells from both patients showed oxidation rates similar to or higher than those of normal subjects. For comparison, a cell line from the patient with deficiency of mitochondrial long chain 3-hydroxyacyl-CoA dehydrogenase ({143450}) showed similar rates of palmitate oxidation before and after membrane permeabilization.\n\n{2:Treem et al. (1988)} described a disorder involving a defective plasma membrane carnitine transporter, which impaired the uptake of carnitine in kidney, muscle, and skin fibroblasts, but not in liver; see {212140}." +603386,"The familial form of nonmedullary thyroid carcinoma (NMTC) is a complex genetic disorder characterized by multifocal neoplasia and a higher degree of aggressiveness than its sporadic counterpart.\n\nOne peculiar form of thyroid tumors is characterized by the presence of cell oxyphilia. Oxophil cells are found in a minority of thyroid tumors, either benign or malignant. These cells show a large volume of granular eosinophilic cytoplasm and are very rich in mitochondria. The familial occurrence of thyroid tumors with cell oxyphilia was reported by {4:Katoh et al. (1998)}. {2:Canzian et al. (1998)} reported such a family with affected members in 3 generations and by linkage analysis mapped the gene to 19p13.\n\nFor general phenotypic information and a discussion of genetic heterogeneity of NMTC, see {188550}." +603387,"This disorder comprises megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP; {602501}) (summary by {3:Gripp et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome\n\nSee also MPPH2 ({615937}), caused by mutation in the AKT3 gene ({611223}) on chromosome 1q43-q44; and MPPH3 ({615938}), caused by mutation in the CCND2 gene ({123833}) on chromosome 12p13." +603388,"For a phenotypic description and a discussion of genetic heterogeneity of Graves disease, see {275000}." +603389,"{1:Osebold et al. (1998)} described the findings and clinical course in a Caucasian woman, aged 23.5 years at the time of report, who had been followed since early childhood for a previously undescribed syndrome of painful osteocartilaginous metaplasia of long bone metaphyses and painful distal phalangeal osteolysis and soft tissue swelling. From birth the patient held her limbs in an unusual position and diapering was painful. When attempting to sit, she could not support her torso, and when she began walking, she could not support her weight. She was always small for age; at 21 years of age, her height was 156 cm. Menarche and pubertal development were normal. Iliac epiphyses were not fully ossified until age 17.5 years. Maximum growth rate occurred between ages 16 and 18 years, marked by severe bone pain, especially about the hips, lower back, lower limbs, and elbows. She also had headache. Analgesics, antiinflammatory agents, muscle relaxants, and antiosteoporosis medications were all ineffective. The patient was highly intelligent; neurologic status was normal. Slight distal phalangeal osteolysis was first noted at age 10 years. By age 20 years, right hip pain became progressively severe, with nearly complete femoral head lysis. At age 13 years, the patient drew attention to her recently painful left distal fibula, where radiographs demonstrated another metaplastic osteocartilaginous lesion similar to that in the left proximal femur.\n\n{1:Osebold et al. (1998)} concluded that the disorder in this patient represented the combination of 2 processes: skeletal dysplasia responsible for shortness of stature, progressive overtubulation of long bones, and increase in vertebral body height; and osteolysis with a remarkably bland and nonspecific histologic picture, and initial radiologic presentation similar to that of hyperparathyroidism (however, with normal parathyroid serum and urine laboratory studies) progressing to involve the distal phalanges of all 20 digits, both proximal femurs, and, in a spotty, selective manner, the clavicles, scapulas, and 1 fibula." +603393,"{1:Brodie et al. (1998)} reported a seemingly 'new' form of lethal osteosclerotic skeletal dysplasia in 2 sib fetuses, 1 of which was female (the sex of the second was not given). The parents were not related. Radiographic findings included increased density in the base of the skull, clavicles, vertebrae, ribs, and the metaphyses of the long bones. There was midface hypoplasia, large anterior fontanel, micrognathia, and hypoplastic, wafer-thin vertebrae. The clavicles, ribs, metacarpals, metatarsals, and phalanges were especially thickened and widened. The long bones were shortened with flared metaphyses. Chondroosseous morphology of resting cartilage and growth plate was relatively normal, but there was hypercellular cortical and trabecular bone, and marrow fibrosis. Ultrastructurally, resting chondrocytes, osteoblasts, and nonhematopoietic marrow cells had dilated rough endoplasmic reticulum (inclusion bodies). The radiographic and morphologic characteristics were thought to be unique and differed from those seen in previously reported lethal osteosclerotic skeletal dysplasias." +603394,"{1:Duval et al. (1998)} described a possibly 'new' autosomal recessive syndrome in 2 female fetuses conceived by a nonconsanguineous couple. The pregnancies were interrupted at 31 and 26 weeks of gestation, respectively, because of severe microcephaly. Postmortem x-ray and autopsy studies showed in both fetuses: (1) severe intrauterine growth retardation; (2) facial anomalies characterized by severe microcephaly, sloping forehead, low-set and posteriorly angulated ears, prominent eyes, downslanting palpebral fissures, large nose, small mouth with full lips, and mild microretrognathia; (3) severe brain hypoplasia that was more pronounced in the second fetus; (4) severe rib hypoplasia with posterior rib-gap defects and, in case 2, hypoplasia of several bones (right clavicle, right radius and ulna, several phalanges of hands and feet); and (5) contracture at large joints. No other visceral malformations were observed, and chromosomes were normal in patient 2 and in the parents." +603446,"{4:Verloes and Koulischer (1992)} reported the case of a woman with absence of the medial part of the upper alveolar ridge, including the gingiva, frenulum, and tooth buds for the maxillary incisors and canines. The designation Verloes-Koulischer oroacral (VKOA) syndrome was suggested in the London dysmorphology database. {1:Cohen (1992)} reported the case of a boy with absent maxillary incisors and canines and asymmetric defects of the hands and left first and second toes. The facial appearance in these 2 cases were similar, with a receding upper lip and relative mandibular prognathism. Neither had a cleft of the palate or lip, or anomaly of the tongue. {2:De Silva and Verloes (1998)} described a 9-year-old Sinhalese boy with similar findings: midface hypoplasia with a depressed upper lip and relative mandibular prognathism; absence of the upper midline alveolus, frenulum, and gingiva; absent maxillary incisors and right canine; absent left second and third digits with a soft tissue nubbin at the position of the index finger and the third finger with a malformed proximal phalanx only. A vascular etiology causing secondary disruption of an area of the maxilla and the tooth buds as well as the limbs was suggested in the previous cases and was compatible with the mechanism sometimes evoked for amniotic bands syndrome ({217100}), Hanhart syndrome ({103300}), and the induced limb defects occurring as a complication of chorionic villus sampling ({3:Lipson and Webster, 1993})." +603457,"Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence (summary by {7:Graham and Lee, 2006}).\n\nAlso see absence of nasal bones ({161480})." +603467,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nClinical features of FANCF include microcephaly, small or absent thumbs, short stature, microphthalmia, microtia, hearing loss, pigmentary anomalies (cafe-au-lait spots or hyperpigmentation), small or pelvic kidneys, and cardiac anomalies ({3:Tryon et al., 2017}; {4:Zareifar et al., 2019}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +603471,"Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by {5:Komatsu et al., 2008})." +603472,"Neuronal intranuclear inclusion disease (NIID) is an autosomal dominant, slowly progressive neurodegenerative disorder characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction. The age at onset varies, but most individuals present as adults between about 30 and 70 years of age. Pathologic investigation shows eosinophilic intranuclear inclusions in almost all cell types, including neurons, skin cells, fibroblasts, and skeletal muscle. Brain imaging shows a characteristic leukoencephalopathy with high intensity signals in the corticomedullary junction on diffusion-weighted imaging (DWI), as well as white matter abnormalities in subcortical and brainstem regions. Skin biopsy combined with brain imaging is useful for diagnosis (summary by {18:Sone et al., 2016}).\n\nThe phenotype in some cases is suggestive of Parkinson disease (see {168600}) and/or Alzheimer disease (see {104300}), consistent with an evolving phenotypic spectrum of adult-onset NIID (summary by {20:Tian et al., 2019})." +603511,"Autosomal dominant limb-girdle muscular dystrophy is characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. Most patients present with proximal muscle weakness that progresses to distal involvement, but some can present with distal impairment. The severity is variable: patients with a more severe phenotype can lose ambulation after several decades and have facial weakness with bulbar and respiratory involvement. Muscle biopsy shows dystrophic changes with protein aggregates, myofibrillar degeneration, and rimmed vacuoles (summary by {11:Ruggieri et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Limb-Girdle Muscular Dystrophy\n\nOther forms of autosomal dominant LGMD include LGMDD2 ({608423}), previously LGMD1F, caused by mutation in the TNPO3 gene ({610032}) on chromosome 7q32; LGMDD3 ({609115}), previously LGMD1G, caused by mutation in the HNRNPDL gene ({607137}) on chromosome 4q21; and LGMDD4 ({618129}), previously LGMD1I, caused by mutation in the CAPN3 gene ({114240}) on chromosome 15q15.\n\nFor a discussion of autosomal recessive LGMD, see {253600}." +603516,"The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification ({7:Harding, 1993}) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +603517,"The BCL10 gene encodes a member of the CBM complex, which also contains caspase recruitment domain-containing (CARD) family adaptors, such as CARD9 ({607212}), and MALT1 ({604860}). The CBM complex is involved in NFKB (see {164011}) activation after stimulation of various receptors on lymphoid, myeloid, and epithelial cells, thus playing a role in the immune system. BCL10 forms heterotrimers with different CARD proteins in different cell types (summary by {9:Torres et al., 2014})." +603529,"The congenital dyserythropoietic anemias (CDAs) are an uncommon and heterogeneous group of conditions characterized by increased ineffective erythropoiesis and, usually, dysplastic changes in erythroblasts. Originally, 3 types of CDA were recognized and designated CDA type I ({224120}), type II ({224100}), and type III ({105600}). Subsequently, a number of other types were described, as reviewed by {1:Wickramasinghe (1997)}. The defining features of CDA type I are autosomal recessive inheritance, macrocytes in the peripheral blood, internuclear chromatin bridges connecting some almost completely separated erythroblasts, and an abnormal ultrastructural appearance (spongy or 'swiss-cheese' appearance) of the heterochromatin in a high proportion of the erythroblasts." +603530,"{1:Rauch et al. (1999)} reported 2 sisters with a syndrome of severe developmental delay, ataxia, impaired social interaction, seizure disorder with early onset but without epileptiform electroencephalographic changes, and a striking light-fixating behavior which was associated with retinal cone dystrophy. Additionally, they had minor anomalies including peripheral iris hypoplasia, bluish sclerae, mild anteversion of nostrils, micrognathia, ear anomalies, broad halluces and thumbs, hypoplastic toenails, short perineal body, Mongolian spots, mild hirsutism, hypoplastic ridges in the hypothenar area, and distal axial triradii. Growth and general health were normal in both, but one also had tetralogy of Fallot and vesicoureteral reflux. Because this condition appeared to be previously undescribed, {1:Rauch et al. (1999)} postulated that it represents a 'new' autosomal recessive disorder with light-fixating behavior and retinal cone dystrophy as leading features. The fundi in these 2 patients had a normal appearance, but abnormal cone function was detected on the basis of decreased flicker-following response, low normal response to a single bright flash, and decreased visual evoked responses bilaterally. X-linked female-restricted epilepsy with mental retardation (EFMR; {300088}) was considered unlikely because in that disorder development is normal until age 4 to 18 months and developmental regression occurs thereafter, presumably secondary to the grand mal convulsive disorder. There was no evidence of regression in the patients of {1:Rauch et al. (1999)} and hyperreflexia seen in the sisters is absent in the EFMR syndrome. All patients with EFMR remained ambulatory. Furthermore, cone dystrophy or light-staring behavior had not been described in patients with EFMR." +603543,"Limb-mammary syndrome (LMS) is an autosomal dominant disorder characterized by variable expressivity of severe hand and/or foot anomalies (deficiencies, duplications, and fusion/separation defects) and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings include lacrimal duct atresia, nail dysplasia hypohidrosis, hypodontia, and cleft palate with or without bifid uvula ({6:Van Bokhoven et al., 1999})." +603546,"Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by {11:Min et al., 2011}).\n\nFor a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 ({271640})." +603552,"Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R; {147730}). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by {2:Muller et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}." +603553,"Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; {147570}) and TNF-alpha ({191160}), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by {4:Dufourcq-Lagelouse et al., 1999}, {9:Stepp et al., 1999}, and {8:Molleran Lee et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}." +603554,"Omenn syndrome is an autosomal recessive disorder characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-cell receptor (TCR) repertoire (summary by {8:Ege et al., 2005})." +603563,"Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by {1:de Bot et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600})." +603569,"Congenital tracheobronchial stenosis is rare. Tracheobronchial malformations appear to be the result of a defect or arrest in the development of the foregut at stages 13-15 of embryonic development at around 4 to 6 weeks. In many instances, tracheobronchial abnormalities are part of a syndrome. {3:Wong et al. (1998)} described monozygotic twin girls concordant for congenital tracheobronchial stenosis. They presented as outpatients at the age of 6 months for evaluation of noisy breathing and frequent wheezing episodes since birth. Using direct coronal CT scan and 3-dimensional reconstruction of the airway, congenital tracheobronchial stenosis was demonstrated in both babies and later confirmed by fiber optic bronchoscopy. Except for wheezing, the twins did not show significant signs of respiratory embarrassment. {2:Tack and Perlman (1987)} described severe congenital tracheal stenosis in 2 infants born to diabetic mothers. In lambs, congenital tracheal stenosis is induced by maternal ingestion of Veratrum californicum ({1:Keeler et al., 1985})." +603587,"Based on personal examination or history of 11 members of a Japanese family, {1:Inoue et al. (1998)} described a distinctive disorder characterized by facial, especially perioral, pigmented follicular atrophoderma, with numerous milia and epidermoid cysts. They suggested that the diagnosis could be made at a glance because of the perioral cutaneous manifestations. Histopathologic examination of the follicular atrophoderma showed proliferation of basaloid cells continuous with the epidermis and coarse collagen fibers, with a decreased density of elastic fibers around the basaloid cells. In 2 of the 8 individuals who were examined, generalized hypohidrosis was also present. {1:Inoue et al. (1998)} pictured the pigmentation and multiple depressed pits in the perioral area. In none of the patients was there a history of basal cell carcinoma or tendency to hair loss. The onset of symptoms was thought to be about 20 years, but 2 individuals in the most recent generation also showed follicular atrophoderma and epidermoid cysts that they had thought represented acne scars on the forehead and perioral region. Affected individuals occurred in 4 generations, with 1 instance of male-to-male transmission. Autosomal dominant inheritance was suggested by the authors. The patients' manifestations resembled those of Bazex-Dupre-Christol syndrome (BZX; {301845}), but BZX is an X-linked disorder, has a different distribution of follicular atrophoderma, and has basal cell carcinoma and hypotrichosis as features." +603592,"Xanthinuria type II is an autosomal recessive inborn error of metabolism resulting from a defect in the synthesis of the molybdenum cofactor, which is necessary for the 2 enzymes that degrade xanthine: XDH ({607633}) and AOX1 ({602841}). Most individuals with type II xanthinuria are asymptomatic, but some develop urinary tract calculi, acute renal failure, or myositis due to tissue deposition of xanthine. Laboratory studies show increased serum and urinary hypoxanthine and xanthine and decreased serum and urinary uric acid (summary by {2:Ichida et al., 2001}).\n\nTwo clinically similar but distinct forms of xanthinuria are recognized. In type I xanthinuria (XAN1; {278300}), there is an isolated deficiency of xanthine dehydrogenase resulting from mutation in the XDH gene; in type II, there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase. Type I patients can metabolize allopurinol, whereas type II patients cannot ({4:Simmonds et al., 1995})." +603595,"{3:Pesme et al. (1950)} and {5:Reichel et al. (1992)} described sporadic cases of bilateral ectopia lentis associated with craniosynostosis. {1:Cruysberg et al. (1999)} observed the combination in twin sisters. Molecular studies yielded a probability of monozygosity of more than 0.98. Surgical correction of the craniosynostosis was performed in one sister at the age of 14 months and in the other at the age of 23 months.\n\n{4:Quercia and Teebi (2002)} reported female first cousins once removed who were both born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence was normal. {4:Quercia and Teebi (2002)} suggested that inheritance is probably autosomal dominant with variable expression and incomplete penetrance. They concluded that the syndrome includes congenital heart defects.\n\n{2:Guven et al. (2005)} observed a 6-year-old Turkish individual with craniosynostosis and ectopia lentis whose parents were second cousins. Synostosis of the right parietal and temporoparietal sutures resulted in craniofacial asymmetry. Ectopia lentis was bilateral." +603600,"{1:Ruggieri et al. (1998)} described solitary osteoma of the parietal skull in a mother and her 12-year-old son. There were no other craniofacial or dysmorphic features. There was no history of previous cranial trauma or inflammatory process and no radiographic evidence of other skeletal lesions. The family history was otherwise unremarkable. Gardner syndrome ({175100}), which is characterized by cranial osteomas at other sites as well as soft tissue tumors in association with colonic polyposis was ruled out by excluding other associated clinical abnormalities and by the lack of family history of colonic disease." +603641,"In a family on the Isle of Man, {1:Michaels et al. (1999)} described 2 brothers and 2 sisters, ranging in age from 33 to 45 years, who presented with low-grade malignant tumors of the submandibular gland in 3 and of the nasal cavities and maxillary sinuses in 1. The neoplasms were all of the same histologic type, apparently hitherto undescribed, showing well-differentiated neoplastic ducts, surrounded by neoplastic myoepithelial cells, together with sheets of epithelial cells expressing neuroendocrine markers by immunohistochemistry. Cervical neck node metastases had developed in all 4 cases. In the sib with the primary sinonasal neoplasm, widespread bloodstream metastases also became manifest and a single such metastasis was found in his brother. All 4 sibs had severe enamel hypoplasia, and the same dental abnormality was present in 5 of their 11 children. In the 2 male patients, severe sensorineural hearing loss developed in adult life, unilateral in one and bilateral in the other. In the brother with bilateral sensorineural hearing loss, MRI demonstrated a vestibular schwannoma ({101000}) on the left side." +603643,"{2:Balci et al. (1999)} described sib fetuses in which prenatal diagnosis was made of situs inversus totalis with cystic dysplasia of the kidneys and pancreas. One fetus was female and one male. They suffered from severe cystic dysplasia of the kidneys and pancreas with no abnormality of the liver and also showed situs inversus, bowing of the lower limbs and clavicles, severe intrauterine growth retardation, and oligohydramnios. The parents were first cousins and had no cysts of kidney, liver, or pancreas detected by ultrasonography. This syndrome differs from that described by {3:Ivemark et al. (1959)} because of the presence of situs inversus totalis and the absence of hepatic fibrosis and cysts; see {263200}. {1:Balci et al. (2000)} reported the prenatal diagnosis of pancreatic and dysplastic renal cysts in a third affected member of this family. The third affected sib was female." +603656,"Dupuytren subungual exostosis is a rare heterotopic ossification with a marked predilection to involve the great toe. The term 'exostosis' is a misnomer since there is no continuity within the underlying bone. This lesion has nothing to do with osteochondroma, which is a true exostosis with continuity to the underlying bone, and should be considered a lesion more comparable to those of fibrodysplasia ossificans progressiva ({135100}). This subungual lesion usually presents as a painful mass localized dorsomedially, often associated with elevation and ultimately ulceration of the nail plate and bed ({2:Kilpatrick et al., 1997}). It may occur at any age, but most often in patients between 15 and 25 years of age, without sex predominance. Pain and swelling are the main symptoms. Simple excision is the treatment of choice. Recurrences have been described ({3:Landon et al., 1979}). {1:Dal Cin et al. (1999)} performed a cytogenetic investigation of Dupuytren subungual exostosis and found a clonal abnormality suggesting that this particular heterotopic ossification may be neoplastic in nature rathan than a purely reactive process or an exuberant growth in response to trauma. G-banded karyotypes showed 4 translocations involving a total of 7 chromosomes." +603663,"The genetic basis of bipolar affective disorder (BPAD; {125480}), also called manic-depressive illness, in the Old Order Amish has been under study since the early 1980s. Linkage of BPAD to 11p was reported by {1:Egeland et al. (1987)}, but this result could not be confirmed by others ({5:Neiswanger et al., 1990}; {3:Kidd, 1989}). Linkage studies in the Amish were also conducted by {7:Pauls et al. (1991)}, {6:Pakstis et al. (1991)}, {4:Law et al. (1992)}, {8:Pauls et al. (1995)}, and others.\n\n{2:Ginns et al. (1998)} took a different approach to the study of the Amish pedigrees with high frequency of BPAD. To determine whether there could be protective alleles that prevent or reduce the risk of developing BPAD, similar to what is observed in other genetic disorders, they used mental health wellness (absence of any psychiatric disorder) as the phenotype in their genomewide linkage scan of several large multigenerational Old Order Amish pedigrees. They found strong evidence for linkage between mental health wellness and a locus on 4p, designated MHW1, at D4S2949; maximum nonparametric linkage score = 4.05, P = 5.22 x 10(-4); empirical value less than 3 x 10(-5). They also found suggestive evidence for linkage to a locus on 4q, designated MHW2 ({603664}), at D4S397; maximum nonparametric linkage score = 3.29, P = 2.57 x 10(-3); empirical value less than 1 x 10(-3). These findings were consistent with the hypothesis that certain alleles could prevent or modify the clinical manifestations of BPAD and perhaps other related affective disorders." +603664,"The genetic basis of bipolar affective disorder (BPAD; {125480}), also called manic-depressive illness, in the Old Order Amish has been under study since the early 1980s. Linkage of BPAD to 11p was reported by {1:Egeland et al. (1987)}, but this result could not be confirmed by others ({5:Neiswanger et al., 1990}; {3:Kidd, 1989}). Linkage studies in the Amish were also conducted by {7:Pauls et al. (1991)}, {6:Pakstis et al. (1991)}, {4:Law et al. (1992)}, {8:Pauls et al. (1995)}, and others.\n\n{2:Ginns et al. (1998)} took a different approach to the study of the Amish pedigrees with a high frequency of BPAD. To determine whether there could be protective alleles that prevent or reduce the risk of developing BPAD, similar to what is observed in other genetic disorders, they used mental health wellness (absence of any psychiatric disorder) as the phenotype in their genomewide linkage scan of several large multigenerational Old Order Amish pedigrees. They found strong evidence for linkage between mental health wellness and a locus on 4p, designated MHW1 ({603663}), at D4S2949; maximum nonparametric linkage score = 4.05, P = 5.22 x 10(-4); empirical value less than 3 x 10(-5). They also found suggestive evidence for linkage to a locus on 4q, designated MHW2, at D4S397; maximum nonparametric linkage score = 3.29, P = 2.57 x 10(-3); empirical value less than 1 x 10(-3). These findings were consistent with the hypothesis that certain alleles could prevent or modify the clinical manifestations of BPAD and perhaps other related affective disorders." +603669,"{1:Chen et al. (1998)} described a father and his 2 sons with multiple eccrine syringofibroadenomas in association with eyelid abnormalities and progressive corneal scarring. The 39-year-old father had multiple erythematous papules and plaques on the feet, toes, and scrotum. The scrotal lesions began in early childhood. The children, aged 2 and 6 years, had similar erythematous plaques on the scrotum. None had signs of ectodermal dysplasia, and their hair, teeth, and palmar sweating were normal. The father had had multiple eyelid reconstructions to correct upper lid entropion and lower lid ectropion. He had a right corneal transplant that failed. Both sons showed marked cicatricial ectropion of the lower lids and a mild entropion of the upper lids with an extra roll of skin above the lid margins. There was absence of the lashes in the lower lids. {1:Chen et al. (1998)} proposed that this family had a newly recognized genetic syndrome consisting of eccrine syringofibroadenomatosis and ocular disease manifested by lid abnormalities, lack of meibomian glands, and progressive corneal scarring." +603670,"The common blue nevus of Jadassohn-Tieche most frequently presents as a solitary blue 1- to 10-mm dome-shaped papule on the dorsal hand or foot. It is characterized by greatly elongated wavy groups of spindled dermal melanocytes that are oriented parallel to the epidermis. Cellular blue nevi resemble common blue nevi clinically but are usually larger, ranging from 1 to 3 cm in diameter, and occur primarily on the buttocks or sacrum as a solitary blue nodule (summary by {2:Knoell et al., 1998})." +603671,"{14:Verloes et al. (1992)} described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet." +603689,"Myofibrillar myopathy-9 with early respiratory failure (MFM9) is an autosomal dominant muscle disorder characterized by adult onset of slowly progressive muscle weakness with diaphragmatic involvement causing respiratory insufficiency. Patients present between 20 and 70 years of age with distal or proximal muscle weakness, mainly affecting the lower limbs with foot drop or difficulty walking. The age at onset is highly variable, even within families. Nearly all patients eventually develop significant proximal and distal weakness, as well as respiratory insufficiency requiring nocturnal ventilation. Additional, more variable features may include axial weakness, neck muscle weakness, and rarely, cardiac involvement. Muscle biopsy shows myopathic or dystrophic changes with fiber splitting, eosinophilic cytoplasmic inclusions consistent with myofibrillar myopathy, rimmed vacuoles, and increased connective or fatty tissue (summary by {6:Pfeffer et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 ({601419})." +603694,"For a phenotypic description and a discussion of genetic heterogeneity of type 2 diabetes mellitus (T2D), see {125853}." +603736,"Say-Barber-Biesecker-Young-Simpson syndrome, a variant of Ohdo syndrome ({249620}), is characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Many affected individuals have abnormalities of thyroid structure or function. YSS is usually associated with severe mental retardation, delayed motor milestones, and significantly impaired speech (summary by {4:Clayton-Smith et al., 2011}).\n\nGenitopatellar syndrome ({606170}) is an allelic disorder with overlapping features." +603737,"Ovarian germ cell cancers are malignancies that arise from germ cells of the embryonic gonad. Although benign germ cell tumors are relatively common, accounting for approximately 20% of all ovarian neoplasms, malignant ovarian germ cell tumors are rare. {3:Weiss et al. (1977)} estimated that less than 5% of ovarian cancers are of germ cell origin." +603740,"{1:Castriota-Scanderbeg et al. (1999)} reported a southern Italian girl in whom the most striking manifestations were short stature and changes in the bones of the hands and feet (acrodysplasia) with severe brachydactyly and severe ossification delay. Other findings included fibular hypoplasia, epiphyseal changes at multiple sites, and characteristic changes of the spine and pelvis. The parents were first cousins, suggesting autosomal recessive inheritance. Some of the radiologic features were similar to those demonstrated by 3 brothers, who also had consanguineous parents, reported by {2:Eiken et al. (1984)}; see {600002}. Because of distinctive features in their case and in the cases of {2:Eiken et al. (1984)}, {1:Castriota-Scanderbeg et al. (1999)} suggested that these families had similar, but probably different, disorders." +603744,"The familial type of medullary thyroid carcinoma ({155240}) is a well-defined clinical entity. However, much less is known about the familial occurrence of differentiated thyroid carcinoma. Two patterns of presentation had been described for familial differentiated thyroid cancer: a pattern associated with an inherited tumor syndrome such as Gardner syndrome (APC; {175100}) and Cowden disease ({158350}), and a second pattern of familial aggregation without other associated neoplasms. A further classification of thyroid tumors is based on size: papillary microcarcinoma of the thyroid is defined as a papillary carcinoma measuring 1.0 cm or less in diameter. This group of patients has been thought to be a specific low-risk category with a favorable prognosis ({1:Hay et al., 1992}). {2:Lupoli et al. (1999)} identified a family history of thyroid carcinoma in 7 of 119 patients with papillary thyroid microcarcinoma. The tumor was multifocal in 5 patients, bilateral in 3, and showed vascular invasion in 3 of the 7 patients. Lymph node metastases were found in 4 patients. Three patients had a recurrence and 1 patient with pulmonary metastases died within 11 months. Thus, familial occurrence was observed in 5.9% of cases, together with an unfavorable behavior of the familial form of the disorder." +603776,"Familial hypercholesterolemia-3 (FHCL3) is an autosomal dominant disorder of lipid metabolism characterized by a selective increase of low density lipoprotein particles in plasma, giving rise to tendon and skin xanthomas, arcus corneae, and coronary artery disease (summary by {6:Varret et al., 1999}).\n\nFor a general description and a discussion of genetic heterogeneity of hypercholesterolemia, see {143890}.\n\n{6:Varret et al. (1999)} reported a large 3-generation French family (HC2) in which 7 individuals had hypercholesterolemia. All affected members had levels of total cholesterol above the 97th percentile when compared with age- and sex-matched French individuals. The proband was a 36-year-old woman, ascertained at age 17 years with 3.32 g/l total cholesterol, 2.36 g/l LDL-C, 0.48 g/l HDL-C, 0.61 g/l triglycerides, and arcus corneae. Her sister, aged 40 years, was ascertained at age 20 years with similar lipid levels, arcus corneae, tendon xanthomas, and xanthelasmas.\n\n{3:Haddad et al. (1999)} reported a large Utah kindred (K1173) segregating hypercholesterolemia. In this pedigree, the LDL levels (mean, 237 +/-70) were similar to those of familial hypercholesterolemia pedigrees with mutations in the LDL receptor gene (FHCL1; {606945}), and penetrance was complete even at young ages. Triglyceride levels were significantly lower than in FHCL1 pedigrees, but mean age and body mass index were also lower. There were no differences in the frequency of tendon xanthomas or coronary artery disease." +603783,"Substantial differences in cognitive abilities (e.g., visuospatial abilities, memory, vocabulary, semantics, and symbolic reasoning) tend to cluster within individuals. Model-fitting metaanalyses based on dozens of twin and adoption studies have estimated that approximately 50% of total population variance in intelligence can be attributed to genetic factors ({2:Devlin et al., 1997}). Heritability of quantitatively distributed traits such as intelligence is likely to be due to multiple genes of varying effect size, called quantitative trait loci (QTLs).\n\nQTLs for intelligence have been mapped to chromosome 4 (INTLQ1), chromosome 2q (INTLQ2; {610294}), and chromosome 6p (INTLQ3; {610295})." +603786,"Stargardt disease is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait (see {248200}), but STGD4 is inherited as an autosomal dominant trait (summary by {2:Kniazeva et al., 1999})." +603794,"Hydroa vacciniforme (HV) is a rare photodermatosis characterized by acute vesiculation and crusting and scarring following sun exposure ({4:Gupta et al., 1999})." +603806,"Many adult women and female children are highly susceptible to urinary tract infection (UTI) without an identifiable anatomic abnormality ({1:Engel et al., 1980}). Asymptomatic bacteriuria among African American school girls was found to be less frequent than among Caucasian school girls; however, no difference in UTI history within families was found except for apparent clustering of cases in some families ({3:Kunin et al., 1964}). Using a questionnaire, {2:Hopkins et al. (1999)} studied the families of 41 women with recurrent UTIs. The incidence of UTIs in mothers, daughters, and sisters was approximately 50% or greater. Vertical transmission was observed, suggesting that predisposition may be a dominant trait determined by a single gene. Some families suggested a recessively inherited gene, and polygenic inheritance was also considered." +603813,"Autosomal recessive familial hypercholesterolemia-4 (FCHL4) is a rare monogenic disease characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease (summary by {14:Sanchez-Hernandez et al., 2018})." +603828,"{1:Nishimura et al. (1999)} described a Japanese family in which 4 females and 2 males in 3 generations had a brittle bone disorder that appeared to be hitherto unreported. The cardinal manifestations included dolichocephaly with frontal bossing, hypoplasia of the midface, postpubertal prognathism, micromelic short stature, coarse trabeculae of the entire skeleton, and bone fragility of variable degrees. Mild spondylar modification and iliac hypoplasia were other hallmarks that were recognized in childhood. The proband, a 19-year-old male, was the most severely affected, with multiple wormian bones in the calvaria, repetitive fractures, intractable bowing of the legs and forearms, and pseudofractures of the long bones with metaphyseal narrowing. His male cousin was the next most severely affected, with angular deformity restricted to the forearm. The 4 females were much less affected, without angular deformity. There was no instance of male-to-male transmission. The mode of inheritance was thus consistent with either an autosomal dominant trait with sex influence or an X-linked semidominant trait. Histologic bone examination in the proband showed atrophy and fibrous degeneration of the lamellar trabeculae and disorganized chondroosseous junction, which implied that the disorder involved both intramembranous and enchondral ossifications." +603829,"Ventricular fibrillation (VF) is said to cause more than 300,000 sudden deaths each year in the US alone. In approximately 5 to 12% of cases, there are no demonstrable cardiac or noncardiac causes to account for the episode, which is therefore classified as idiopathic ventricular fibrillation (IVF). Patients with a distinct form of VF called Brugada syndrome (see {601144}) present with a characteristic electrocardiographic pattern, with right bundle branch block (RBBB) and elevation of ST segment in leads V1 to V3 and may account for 40 to 60% of all IVF cases (review by {3:Chen et al., 1998}). Mutations in the SCN5A gene were identified in patients with Brugada syndrome-1 ({601144}).\n\n<Subhead> Genetic Heterogeneity of Paroxysmal Familial Ventricular Fibrillation\n\nAnother familial form of VF (VF2; {612956}) is caused by mutation in the DPP6 gene ({126141}) on chromosome 7q26." +603830,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({4:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500})." +603896,"Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by {26:Van der Knaap et al., 1998} and {23:Schiffmann et al., 1997})." +603902,"Dominantly inherited inclusion body beta-thalassemia is characterized by the presence of inclusion bodies in red blood cell precursors, moderately severe anemia, jaundice, and splenomegaly (summary by {3:Ropero et al., 2005})." +603903,"Sickle cell anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vasoocclusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established. The most common cause of sickle cell anemia is the HbS variant ({141900.0243}), with hemoglobin SS disease being most prevalent in Africans (review by {57:Rees et al., 2010}).\n\nSee review of infection in sickle cell disease by {6:Booth et al. (2010)}.\n\n{53:Piel et al. (2017)} reviewed the genetic and nongenetic modifiers of the severity of sickle cell disease." +603932,"Lumbar disc disease is caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants ({5:Matsui et al., 1998}; {2:Battie et al., 1995}; {8:Sambrook et al., 1999})." +603935,"For phenotypic information on psoriasis and general information on other psoriasis susceptibility loci, see PSORS1 ({177900})." +603965,"Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (review by {1:Meyrier, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome (NPHS), see FSGS1 ({603278})." +603976,"The ZNF94 gene encodes a zinc finger protein of the KRAB (Kruppel-associated box) subfamily ({1:Bellefroid et al., 1993}). See ZNF91 ({603971}) for general information on ZNFs." +603979,"The ZNF97 gene encodes a zinc finger protein of the KRAB (Kruppel-associated box) subfamily ({1:Bellefroid et al., 1993}). See ZNF91 ({603971}) for general information on ZNFs." +603985,"Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 ({603971}) for general information on ZNFs." +603987,"Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 ({603971}) for general information on ZNFs." +603988,"Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 ({603971}) for general information on ZNFs." +603991,"Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 ({603971}) for general information on ZNFs." +603992,"Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 ({603971}) for general information on ZNFs." +603993,"Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 ({603971}) for general information on ZNFs." +603995,"Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 ({603971}) for general information on ZNFs." +603997,"Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 ({603971}) for general information on ZNFs." +603998,"Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 ({603971}) for general information on ZNFs." +604000,"The ZNF122 gene encodes a zinc finger protein of the KRAB (Kruppel-associated box) family ({1:Bellefroid et al., 1993}). See ZNF91 ({603971}) for general information on ZNFs." +604004,"Megalencephalic leukoencephalopathy with subcortical cysts is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline (summary by {3:Lopez-Hernandez et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Megalencephalic Leukoencephalopathy with Subcortical Cysts\n\nSee also MLC2A ({613925}), which is caused by homozygous or compound heterozygous mutation in the HEPACAM gene ({611642}), and MLC2B ({613926}), which is caused by heterozygous mutation in the HEPACAM gene." +604091,"Twenty to 30% of early familial coronary heart disease (CHD) is ascribed to hypoalphalipoproteinemia, or high density lipoprotein deficiency. Although not initially recognized as a predisposing dyslipidemia, extensive epidemiologic work has implicated low high-density lipoprotein cholesterol (HDLC) levels in increased risk of cardiovascular disease, and low HDLC is considered to be a true dyslipidemic syndrome ({5:Warnick and Wood, 1995}).\n\n<Subhead> Genetic Heterogeneity of Primary Hypoalphalipoproteinemia\n\nPrimary hypoalphalipoproteinemia-2 ({618463}) and intermediate primary hypoalphalipoproteinemia-2 ({619836}) are caused by mutation in the APOA1 gene ({107680}) on chromosome 11q23." +604093,"Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see {209700}) (summary by {3:Klar et al., 2015})." +604114,"Phosphoinositide-specific phospholipase C (PLC) plays a major role in transmembrane signaling by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) and thereby generating the second messenger molecules inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. Several distinct PLC enzymes have been identified in a variety of mammalian tissues (summary by {4:Park et al., 1992}). PLCB2 participates in the T2R (see {604791}) signal transduction pathway (summary by {8:Shah et al., 2009})." +604116,"Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by {6:Klevering et al., 2002} and {3:Ducroq et al., 2002}). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced ({5:Fishman et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see {120970}." +604117,"Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance; constricting bands encircling the digits of the hands and feet, which frequently lead to autoamputation of the fifth digits; starfish-shaped, salmon-colored hyperkeratotic lesions, or knuckle pads, on the dorsal surface of the hands; and ichthyosiform dermatosis. The pathognomonic histologic finding is markedly thickened stratum corneum, hypergranulosis, and particularly, hyperkeratosis with round nuclei retained in the stratum corneum. Unlike classic Vohwinkel syndrome, hearing loss is not a feature (summary by {5:Maestrini et al., 1996})." +604121,"ADCADN is an autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy/cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression (summary by {3:Winkelmann et al., 2012})." +604129,"Dystrophic epidermolysis bullosa is an inherited skin fragility disorder associated with anchoring fibril abnormalities and sublamina densa blistering.\n\nEB pruriginosa is a rare distinct clinical subtype of dystrophic EB in which skin fragility, blistering, and scar formation are associated with intense pruritus, nodular prurigo-like lichenified lesions, nail dystrophy, and variable presence of albopapuloid lesions ({5:McGrath et al., 1994}; {1:Cambiaghi et al., 1997}). The onset of these clinical features may be evident in early childhood, but in some cases is delayed until the second or third decade of life. Autosomal dominant, autosomal recessive, and sporadic inheritance patterns have all been described in this disorder." +604145,"Dilated cardiomyopathy-1G (CMD1G) is an autosomal dominant disorder characterized by ventricular dilatation and systolic contractile dysfunction ({5:Siu et al., 1999}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see CMD1A ({115200})." +604154,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}." +604168,"Congenital cataracts, facial dysmorphism, and neuropathy is an autosomal recessive disorder that is prevalent among Bulgarian Gypsies. Additional features include delayed psychomotor development, skeletal anomalies, and hypogonadism. The predominantly motor neuropathy becomes evident during childhood and progresses to severe disability by the third decade ({6:Tournev et al., 1999}).\n\nCCFDN is genetically distinct from Marinesco-Sjogren syndrome (MSS; {248800}), although the 2 disorders share some overlapping features, including congenital cataracts, delayed psychomotor development, and ataxia ({3:Merlini et al., 2002})." +604169,"Left ventricular noncompaction (LVNC) is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle ({15:Sasse-Klaassen et al., 2004}). The mechanistic basis is thought to be an intrauterine arrest of myocardial development with lack of compaction of the loose myocardial meshwork. LVNC may occur in isolation or in association with congenital heart disease. Distinctive morphologic features can be recognized on 2-dimensional echocardiography ({7:Kurosaki et al., 1999}). Noncompaction of the ventricular myocardium is sometimes referred to as spongy myocardium. {16:Stollberger et al. (2002)} commented that the term 'isolated LVNC,' meaning LVNC without coexisting cardiac abnormalities, is misleading, because additional cardiac abnormalities are found in nearly all patients with LVNC.\n\n<Subhead> Genetic Heterogeneity of Left Ventricular Noncompaction\n\nA locus for autosomal dominant left ventricular noncompaction has been identified on chromosome 11p15 (LVNC2; {609470}).\n\nLVNC3 (see {605906}) is caused by mutation in the LDB3 gene ({605906}) on chromosome 10q23. LVNC4 (see {613424}) is caused by mutation in the ACTC1 gene ({102540}) on chromosome 15q14. LVNC5 (see {613426}) is caused by mutation in the MYH7 gene ({160760}) on chromosome 14q12. LVNC6 (see {601494}) is caused by mutation in the TNNT2 gene ({191045}) on chromosome 1q32. LVNC7 ({615092}) is caused by mutation in the MIB1 gene ({608677}) on chromosome 18q11. LVNC8 ({615373}) is caused by mutation in the PRDM16 gene ({605557}) on chromosome 1p36. LVNC9 (see {611878}) is caused by mutation in the TPM1 gene ({191010}) on chromosome 15q22. LVNC10 ({615396}) is caused by mutation in the MYBPC3 gene ({600958}) on chromosome 11p11.\n\nLVNC can also occur as part of an X-linked disorder, Barth syndrome ({302060}), caused by mutation in the TAZ gene ({300394}) on chromosome Xq28." +604172,"In the chick embryo, left-right asymmetric patterns of gene expression in the lateral plate mesoderm are initiated by signals located in and around the Hensen node. In a screening designed to identify a gene specifically expressed in the left lateral plate mesoderm, {1:Rodriguez Esteban et al. (1999)} identified a novel gene, which they named Cer-like Caronte (Car), after the boatman who ferried the souls of the dead across the River Styx in Greek mythology. Caronte encodes a predicted 273-amino acid protein that contains a hydrophobic signal sequence at the N-terminus and a C-terminal cystine knot (CTCK) motif from amino acids 167 through 244. Sequence comparisons, along with the expression pattern of functional assays, indicated that Car is a secreted protein encoded by a member the Cer/Dan gene family. Car mediates the Sonic hedgehog (Shh; {600725})-dependent induction of left-specific genes in the lateral plate mesoderm. Car induces Nodal ({601265}) in the left lateral plate mesoderm by antagonizing bone morphogenic proteins (BMPs). Downregulation of Car expression on the right side of the embryo is essential for normal left-right development to proceed, as ectopic expression of Car on the right side results in laterality defects. {1:Rodriguez Esteban et al. (1999)} demonstrated that fibroblast growth factor-8 (FGF8; {600483}) expression on the right side of the node acts as a negative regulator of Car expression. Thus, Car is activated or maintained by Shh in the left side of the chick embryo and repressed by FGF8 in the right side. {1:Rodriguez Esteban et al. (1999)} stated that their results define a complex network of antagonistic molecular interactions between activin, FGF8, Lefty1 ({603037}), Nodal, BMPs, and Car that cooperate to control left-right asymmetry in the chick embryo. Whether the human homolog of Caronte performs the same function in human embryos remained to be determined." +604173,"Poikiloderma with neutropenia (PN) is an autosomal recessive syndrome characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, noncyclic neutropenia, short stature, and recurrent pulmonary infections ({3:Clericuzio et al., 1991})." +604183,"Aural cholesteatoma is an abnormal accumulation of keratin-producing squamous epithelium in the middle ear, epitympanum, mastoid, or petrous apex ({1:Arriaga, 1994}). The misnomer 'cholesteatoma' originated from the erroneous assumption that the mass represented a cystic tumor of cholesterol and fat. The original term has been retained, despite suggestions that the more pathologically accurate term 'keratoma' be adopted. Most cholesteatomas are acquired in the setting of recurrent otitis media ({166760}). Primary or congenital cholesteatomas are rare, representing approximately 2 to 5% of cases in several large series. {2:Graham and Allanson (1999)} described congenital cholesteatoma and malformations of the facial nerve in association with the branchiootorenal syndrome (BOR; {113650}). They reviewed information on the incidence, clinical characteristics, diagnosis, and pathogenesis of congenital cholesteatoma. The evidence for mendelian inheritance was minimal.\n\n{3:Shaoul et al. (1999)} described a 6-year-old boy with adenomatous polyposis coli and congenital cholesteatoma; see {175100.0023}." +604185,"For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis (HCFP), see {601471}." +604187,"Spastic paraplegia-10 (SPG10) is an autosomal dominant neurologic disorder with variable manifestations. Some patients have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some patients show distal sensory impairment, which can be part of the 'pure' phenotype. However, some patients also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A, {118210}). Rarely, patients with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation may represent extreme ends of the phenotypic spectrum of KIF5A mutations (summary by {6:Goizet et al., 2009} and {3:Crimella et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600})." +604201,"Hepatointestinal schistosomiasis is caused by 2 species of helminths: Schistosoma japonicum, which is prevalent in Asia, and S. mansoni, which is prevalent in Africa and South America. Both worms develop in the host mesenteric system and lay eggs that trigger inflammation in the hepatic periportal space in which they are trapped. Worms live for years, and chronic liver inflammation and significant tissue destruction are therefore common in infected individuals. Tissue repair begins with deposition of extracellular matrix proteins (ECMPs) in the damaged tissues, which are later replaced by normal hepatocytes. In some individuals, ECMPs accumulate in the periportal space, forming fibrosis deposits that reduce blood flow and cause varicose veins. These individuals may die from the subsequent effects of hepatic fibrosis. About 5 to 10% of the 350 million infected individuals develop severe hepatic fibrosis. Development of hepatic fibrosis in schistosome-infected individuals is influenced by a locus on chromosome 6q23, designated SM2, which contains 2 major candidate genes: IFNGR1 ({107470}), which encodes a chain of the receptor for interferon-gamma (IFNG; {147570}), and CTGF ({121009}), which encodes a profibrogenic molecule produced by hepatocytes (summary by {2:Dessein et al., 2009})." +604211,"{1:Huang et al. (1999)} described a brother and sister, in a sibship of 4, with multiple congenital anomalies, including Hirschsprung disease. The boy was born with bilateral complete cleft lip and palate, telecanthus, duplication of the great toes, and postaxial polydactyly of the right foot. Echocardiogram showed atrial septal defect, coarctation of the aorta, a large patent ductus arteriosus (see {607411}), a cleft mitral valve, and a mildly hypoplastic aortic arch. At 1 day of age, he underwent colostomy and appendectomy because of a spontaneous perforation of the large bowel. Histologic studies showed aganglionosis of the entire colon and the appendix. Respiratory distress at 2 months of age necessitated direct laryngoscopy which showed a short epiglottis and short aryepiglottic folds. He showed mild developmental delay, particularly in expressive language usage. His karyotype was normal. His older sister also had duplication of the great toes, heart defects, airway anomalies, aganglionosis of the sigmoid colon, and mild developmental delay. The 2 other sibs were normal except for a bifid uvula and developmental delay in one. The parents were in good health and unrelated. Autosomal recessive inheritance was considered likely. {1:Huang et al. (1999)} reviewed 6 other reports of congenital anomalies associated with Hirschsprung disease. Also see Hirschsprung disease with polydactyly, renal agenesis, and deafness ({235740}), Hirschsprung disease with hypoplastic nails and dysmorphic facial features ({235760}), Hirschsprung disease with type D brachydactyly ({306980}), and Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect ({235750})." +604213,"Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by {1:Alrashdi et al., 2011})." +604219,"Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene." +604229,"Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {2:Cheong et al., 2016}).\n\nAnterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon ({3:Gould and John, 2002}).\n\nPatients with ASGD5 have been reported with the Peters anomaly, Axenfeld anomaly, and Rieger anomaly subtypes.\n\nPeters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea ({6:Peters, 1906}). It occurs as an isolated ocular abnormality or in association with other ocular defects.\n\nIn Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by {7:Smith and Traboulsi, 2012})." +604232,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered retinitis pigmentosa ({5:Gu et al., 1997}). SPATA7-associated retinopathy shows a variable age at onset, ranging from infancy to adulthood, as well as phenotypic variability, including intrafamilial differences ({12:Wang et al., 2009}; {1:Avila-Fernandez et al., 2011}; {4:Feldhaus et al., 2018}; {10:Sengillo et al., 2018}).\n\n{8:Mackay et al. (2011)} concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}.\n\n<Subhead> Reviews\n\n{6:Kannabiran (2020)} reviewed reported SPATA7 mutations and the associated phenotypes. The author noted that there were no clear-cut correlations between genotype and phenotype, and that phenotypic heterogeneity had been observed among patients with the same mutation. Clinical variability was also often seen in patients with SPATA7 mutations, with some phenotypes resembling cone-rod dystrophy or choroideremia." +604233,"Generalized epilepsy with febrile seizures plus type 1 (GEFSP1) is an autosomal dominant neurologic disorder characterized by onset of seizures associated with fever in infancy or early childhood. There is wide phenotypic variability, even within families. In contrast to classic febrile seizures (see, e.g., FEB1, {121210}), which affect approximately 3% of children under 6 years of age and typically spontaneously remit by age 6 years, patients with GEFSP1 either have febrile seizures extending beyond age 6 years or develop epilepsy with afebrile seizures. Other seizure types include absence seizures, partial seizures, myoclonic seizures, and atonic seizures. Some patients may have developmental delay after the onset of seizures (summary by {6:Wallace et al., 1998} and {4:Singh et al., 1999}).\n\n{2:Deprez et al. (2009)} reviewed the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.\n\n<Subhead> Genetic Heterogeneity of GEFS+\n\nGEFS+ is a genetically heterogeneous disorder. See also GEFS+2 ({604403}), caused by mutation in the SCN1A gene ({182389}) on chromosome 2q24; GEFS+3 (see {607681}), caused by mutation in the GABRG2 gene ({137164}) on chromosome 5q34; GEFS+5 ({613060}), associated with variation in the GABRD ({137163}) gene on chromosome 1p36; GEFS+9 ({616172}), caused by mutation in the STX1B gene ({601485}) on chromosome 16p11; GEFS+10 ({618482}), caused by mutation in the HCN1 gene ({602780}) on chromosome 5p12; and GEFS+11 ({602477}), caused by mutation in the HCN2 gene ({602781}) on chromosome 19p13.\n\nSeveral putative loci have also been identified; see GEFS+4 ({609800}), mapped to chromosome 2p24; GEFS+6 ({612279}), mapped to chromosome 8p23-p21; GEFS+7 ({613863}), mapped to chromosome 2q24; and GEFS+8 ({613828}), mapped to chromosome 6q16.3-q22.31." +604254,"For a phenotypic description and a discussion of genetic heterogeneity of susceptibility loci for dyslexia, see DYX1 ({127700})." +604273,"A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by {3:Mayr et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Mitochondrial Complex V Deficiency\n\nOther nuclear types of mitochondrial complex V deficiency include MC5DN2 ({614052}), caused by mutation in the TMEM70 gene ({612418}) on chromosome 8q21; MC5DN3 ({614053}), caused by mutation in the ATP5E gene (ATP5F1E; {606153}) on chromosome 20q13; MC5DN4 ({615228}), caused by mutation in the ATP5A1 gene (ATP5F1A; {164360}) on chromosome 18q; MC5DN5 ({618120}), caused by mutation in the ATP5D gene (ATP5F1D; {603150}) on chromosome 19p13; and MC5DN6 ({618683}), caused by mutation in the USMG5 gene (ATP5MD; {615204}) on chromosome 10q24.\n\nMutations in the mitochondrial-encoded MTATP6 ({516060}) and MTATP8 ({516070}) genes can also cause mitochondrial complex V deficiency (see, e.g., {500015})." +604287,"{2:Carney et al. (1977)} reported the association of gastric (epithelioid) leiomyosarcoma, functioning extraadrenal paraganglioma, and pulmonary chondroma in 2 patients and the association of 2 of the 3 tumors in 5 other patients. All were unrelated young women. One patient also had a nonfunctioning adrenocortical adenoma ({5:Margulies and Sheps, 1988}). The tumor pattern, namely multifocal lesions in multiple organs in young patients, suggested an inherited disorder, but such was not found. {3:Carney (1983)} reviewed findings in 24 affected patients (including 2 males), 6 of whom had the 3 tumors. The gastric neoplasm had metastasized in 8 patients, demonstrating its malignant nature. Some of the paragangliomas were nonfunctioning in the second series. {4:Carney (1999)} reviewed the findings in a total of 79 patients (including 48 patients recognized since 1983). Forty-two (53%) had gastric and pulmonary tumors, the most common combination. The longest interval between detection of the first and second components was 26 years (mean, 8.4 years; median, 6 years). Two patients each had a sib with one component of the triad. Both had gastric sarcomas and paragangliomas. {4:Carney (1999)} noted that gastric stromal sarcoma had not occurred in 549 patients (290 males and 259 females) from 115 kindreds with familial paragangliomas ({168000}). Thus the patients mentioned do not represent that disorder.\n\n{1:Appelman (1999)} reviewed gastrointestinal stromal tumors (GISTs) in general. Gastric stromal tumors, the largest group of GISTs, occur in several varieties. Some are composed of spindle cells, while in others, the cells are round or epithelioid, and there are benign and malignant variants of both cell types." +604288,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200})." +604291,"More than a quarter of the human population is affected by soil-transmitted helminthes, which impair nutrition and the immune response to widespread pandemics, such as acquired immunodeficiency syndrome (see {609423}) and tuberculosis (see {607948}). The roundworm Ascaris lumbricoides, the most common human parasite of the gastrointestinal tract, causes ascariasis, which has a worldwide distribution with highest prevalence in tropical and subtropical regions and in areas with inadequate sanitation. Ascariasis is triggered by ingestion of parasite eggs. During its life cycle, Ascaris threatens human health with nonspecific abdominal symptoms, intestinal obstruction and perforation, biliary colic, gallstone formation, liver abscesses, pancreatitis, and pulmonary eosinophilia ({3:Sanglas et al., 2009})." +604292,"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome-3 (ECC3) is an autosomal dominant disorder comprising absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate (summary by {8:Maas et al., 1996}).\n\nAlso see EEC1 ({129900}), which has been mapped to chromosome 7q11." +604307,"Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea.\n\nBefore it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL." +604315,"{1:Mori et al. (1999)} described a girl with congenital hypoplastic anemia, 'coarse' face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister, who died at the age of 1 year, had severe congenital anemia, hypoplastic fingernails, low birth weight, failure to thrive, and repeated upper respiratory tract infections. {1:Mori et al. (1999)} suggested that the same multiple congenital anomalies/mental retardation syndrome (MCA/MR) was present in the sister. They could find no reports of precisely the same combination of symptoms, which appeared to be transmitted in an autosomal recessive manner." +604316,"For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 ({177900})." +604317,"Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology ({4:Hofman, 1984}). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by {9:Yu et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200})." +604321,"Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by {5:Woods et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200})." +604324,"Acne is principally a disorder of adolescence but persists into middle age in a small minority of individuals. {2:Goulden et al. (1999)} quoted evidence, primarily from twin studies, suggesting that acne may be an inherited disorder. Clinically, the condition consists of a spectrum of diseases varying in age of onset and resolution as well as in severity, type, and distribution of lesions. It can be argued that, when investigating the inheritance of acne, particular subgroups must be considered separately. {2:Goulden et al. (1999)} investigated the familial risk of persistent adult acne by studying the occurrence of this condition in first-degree relatives of patients with adult persistent acne compared with the relatives of unaffected volunteers. In a study of 1,203 first-degree relatives of 204 adult acne cases and 856 first-degree relatives of 144 non-acne control volunteers, they found that adult acne was significantly greater among the relatives of a patient with adult acne than among relatives of an unaffected individual (odds ratio = 3.93, 95% CI 2.79-5.51; P less than 0.001).\n\nTo investigate the relative contribution of genetic and environmental factors on the liability to acne, {1:Bataille et al. (2002)} performed a large twin study based on 458 pairs of monozygotic and 1,099 pairs of dizygotic twins, all women with a mean age of 46 years. In addition, they assessed potential risk factors in twins with and without acne in a nested cross-sectional design. Fourteen percent of the twins reported a history of acne. Genetic modeling using acne scores showed that 81% (95% confidence interval 73-87%) of the variance of the disease was attributable to additive genetic effects. The remaining 19% was attributed to unique (i.e., unshared) environmental factors. Of the potential risk factors tested in 400 twins with acne and 2,414 unaffected twins, only apolipoprotein A1 ({107680}) serum levels were significantly lower in twins with acne even after adjusting for age and weight. Family history of acne was also significantly associated with an increased risk. No significant differences were found between twins with and without acne for weight, body mass index, height, birth weight, hair thinning, reproductive factors, cholesterol, triglycerides, high-density lipoprotein, or glucose levels. The lower serum levels of apolipoprotein A1 in twins with acne were also confirmed when analyzing acne-discordant twin pairs." +604335,"Reflex sympathetic dystrophy is a poorly understood condition of chronic pain, edema, and trophic changes developing in an area innervated by a partially damaged peripheral nerve. Classically, the pain occurs weeks after the injury and persists indefinitely. The syndrome is notoriously variable. Some authors prefer use of the term causalgia or complex regional pain syndrome. This extremely painful condition is thought to be mediated in part through the action of the sympathetic nervous system because some patients benefit from chemical or surgical sympathectomy. There is also evidence of a role for sensitization of the central nervous system in association with the primary partial peripheral denervation. {1:Kemler et al. (1999)} found a frequency of HLA-DQ1 (see {146880}) of 69% in 52 unrelated Dutch patients with reflex sympathetic dystrophy in comparison to a frequency of 42% in a control group of 295 unrelated healthy individuals." +604348,"Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by {2:Jones et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Advanced Sleep Phase Syndrome\n\nSee also FASPS2 ({615224}), caused by mutation in the CSNK1D gene ({600864}) on chromosome 17q25, and FASPS3 ({616882}), caused by mutation in the PER3 gene ({603427}) on chromosome 1p36." +604356,"Duane retraction syndrome (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by {7:Miyake et al., 2010}).\n\nFor a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 ({126800})." +604360,"Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.\n\nFor a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A ({270800})." +604363,"{2:Megarbane et al. (1999)} presented a family with 2 children who had myoclonic epilepsy, congenital deafness, a dystrophic pattern of the macular pigment epithelium, incomplete right bundle branch block, and psychiatric disorders appearing after fever episodes. The parents were second cousins. A mitochondrial origin was initially suspected, but mitochondrial DNA analysis did not detect any of the most frequent mutations usually reported in mitochondrial syndromes. Biochemical analysis, including lactate and pyruvate in serum and cerebrospinal fluid, was normal. The authors compared the findings in their patients to those with a similar condition, congenital deafness and familial myoclonic epilepsy ({220300}), reported by {1:Latham and Munro (1937)}. They noted that the patients reported by {1:Latham and Munro (1937)} were more severely affected and did not have the ophthalmologic findings seen in their patients. {2:Megarbane et al. (1999)} concluded that their patients may have a distinct autosomal recessive syndrome." +604364,"Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete (summary by {7:Klein et al., 2012}). Detailed electrophysiologic, brain imaging, and/or histologic studies have indicated that some patients have subtle or clear evidence of focal cortical dysplasia (FCD) ({1:Baulac et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Familial Focal Epilepsy With Variable Foci\n\nSee also FFEVF2 ({617116}), caused by mutation in the NPRL2 gene ({607072}) on chromosome 3p21, FFEVF3 ({617118}), caused by mutation in the NPRL3 gene ({600928}) on chromosome 16p13, and FFEVF4 ({617935}), caused by mutation in the SCN3A gene ({182391}) on chromosome 2q24." +604369,"Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine ({20:Verheijen et al., 1999})." +604377,"Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see {256000}). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; {253300}). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by {4:Papadopoulou et al., 1999}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +604380,"Although there are many syndromes of renal and/or genitorenal anomalies with radial ray dysostoses ({1:Evans et al., 1992}), the association of renal anomalies with ulnar ray dysgenesis has been found to occur mainly in 2 entities, the ulnar-mammary syndrome ({181450}) and Weyers ulnar ray/oligodactyly syndrome ({602418}). {2:Kaplan and Bellah (1999)} described brothers with variable expression of a possibly unique syndrome: an acrorenal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys." +604381,"{1:Gelb et al. (1999)} reported a 3-generation family with 7 affected individuals who had variable cardiovascular defects (patent ductus arteriosus (see {607411}), bicuspid aortic valve, and pseudocoarctation of the aorta) and hand anomalies, including fifth metacarpal hypoplasia and brachydactyly. Inheritance was consistent with autosomal dominance, although X-linked dominance could not be excluded. Given the similarity between this syndrome and Char syndrome ({169100}), the authors performed linkage analysis using DNA markers spanning the Char syndrome critical region at 6p21.1-p12. This analysis excluded the possibility that the family was inheriting an allelic variant of Char syndrome. {1:Gelb et al. (1999)} concluded that this is a novel heart-hand syndrome." +604382,"Lissencephaly is a brain malformation characterized by absence of gyral formation, resulting in a smooth brain surface from which the disorder derives its name. Several lissencephaly syndromes are known (see, for example, {257320} and {247200}). {1:Kerner et al. (1999)} described a syndrome of lissencephaly, cleft palate, diffuse agyria, and severe cerebellar hypoplasia in an African American brother and sister who died soon after birth. Microscopic examination of the abnormally thick cerebral cortex showed absence of cortical layering, with preservation of the pia-glial barrier. The authors believed this to be the first report of recurrent lissencephaly with cleft palate and severe cerebellar hypoplasia associated with these unique neuropathologic findings." +604391,"Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia-telangiectasia (AT; {208900}), but telangiectases and immune deficiency are not present in ATLD1 (summary by {4:Hernandez et al., 1993} and {8:Stewart et al., 1999}).\n\n<Subhead> Genetic Heterogeneity of Ataxia-Telangiectasia-Like Disorder\n\nSee also ATLD2 ({615919}), caused by mutation in the PCNA gene ({176740}) on chromosome 20p12." +604393,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (LCA), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa ({3:Gu et al., 1997}). Various intermediate phenotypes between LCA and retinitis pigmentosa are known and are sometimes described as 'early-onset severe rod-cone dystrophy' or 'early-onset retinal degeneration' ({2:Booij et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}; for cone-rod dystrophy, see {120970}." +604401,"For a phenotypic description and a discussion of genetic heterogeneity of this disorder, see ARVD1 ({107970})." +604403,"Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2) is an autosomal dominant neurologic disorder characterized by the onset of seizures associated with fever in the first months or years of life. Affected individuals continue to have various types of febrile and afebrile seizures later in life, including generalized tonic-clonic seizures (GTCS). Some patients may have offset of seizures in the first or second decades; rare patients may have mildly impaired intellectual development. In contrast, patients with isolated febrile seizures (FEB3A) have onset between ages 6 months and 4 years, show spontaneous remission by age 6 years, and have normal cognition. Mutations in the SCN1A gene thus cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 2, which represents a more severe phenotype (summary by {10:Scheffer and Berkovic, 1997} and {6:Mantegazza et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}." +604443,"Long chain acyl-CoA synthetases ({EC 6.2.1.3}), such as ACSL6, catalyze the formation of acyl-CoA from fatty acids, ATP, and CoA ({2:Malhotra et al., 1999})." +604451,"{3:Tozawa and Ackerman (1987)} described a novel clinicopathologic variant of basal cell carcinoma that they termed 'basal cell carcinoma with follicular differentiation.' Their report generated considerable controversy in the literature, mainly concerning the difference between this basal cell carcinoma with follicular differentiation and trichoepithelioma ({601606}). {4:Walsh and Ackerman (1990)} proposed the designation 'infundibulocystic basal cell carcinoma,' on the basis of the main histopathologic characteristics of the neoplasm. They stated that infundibulocystic basal cell carcinoma was found frequently in patients with nevoid basal cell carcinoma syndrome ({109400}), also called Gorlin syndrome. Further debate ensued as to whether infundibulocystic basal cell carcinoma is the same as basaloid follicular hamartoma ({1:Brownstein, 1992}). {2:Requena et al. (1999)} described 2 families in which several members had multiple infundibulocystic basal cell carcinomas. None of the patients had palmar pits or jaw cysts. The authors performed histopathologic studies on 42 cutaneous lesions from 5 patients. Infundibulocystic basal cell carcinoma was found in 39 lesions. This clinicopathologic variant of basal cell carcinoma consists of a relatively well-circumscribed basaloid neoplasm composed of buds and cords of neoplastic cells arranged in anastomosing fashion and with scant stroma. Some of the neoplastic cords contain tiny infundibular cysts filled by cornified cells with abundant melanin. Linkage analysis in 1 family demonstrated that the affected members shared the same haplotype, but loss of heterozygosity for D9S196 could not be demonstrated in 2 patients from whom tumor DNA was available. Therefore, a diagnosis of nevoid basal cell carcinoma syndrome could not be eliminated. However, {2:Requena et al. (1999)} concluded that multiple hereditary infundibulocystic basal cell carcinomas represent a distinctive genodermatosis different from multiple hereditary trichoepitheliomas and nevoid basal cell carcinoma syndrome." +604454,"Welander distal myopathy is an autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement. This disorder is common in Sweden and Finland (summary by {8:Hackman et al., 2013})." +604474,"Since the first isolation of human herpesvirus-6 (HHV-6) by {3:Salahuddin et al. (1986)}, widespread infection by this virus has become apparent. As with other herpesviruses, HHV-6 remains latent in the host after primary infection. Transmission of HHV-6 via the saliva from mother to infant is thought to be the most common route. Besides being an infectious agent, HHV-6 has been cited as a possible etiologic factor or as a modulating element of certain human neoplastic diseases, particularly lymphoproliferative disorders. {1:Bandobashi et al. (1997)} reported the case of a woman with HHV-6-infected Burkitt lymphoma ({113970}). FISH showed that the viral genome was integrated into 22q13. The patient's asymptomatic husband also carried HHV-6 DNA integrated at 1q44. To assess the possibility of chromosomal transmission of HHV-6 DNA, {2:Daibata et al. (1999)} looked for HHV-6 DNA in the peripheral blood of the couple's daughter. She had HHV-6 DNA on both 22q13 and 1q44, identical to the site of viral integration in her mother and father, respectively. The findings suggested that her viral genomes were inherited chromosomally from both parents. The 3 family members were all seropositive for HHV-6 but showed no serologic signs of active infection. {2:Daibata et al. (1999)} proposed a novel latent form for HHV-6, in which integrated viral genome can be chromosomally transmitted. The possible role of this integrated HHV-6 in the pathogenesis of lymphoproliferative diseases remained to be explored." +604484,"HMSNO is an autosomal dominant neurodegenerative disorder characterized by young adult onset of proximal or distal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis (ALS; see {105400}) (summary by {2:Ishiura et al., 2012})." +604498,"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies ({5:Muraoka et al., 1997}).\n\n{4:King et al. (2005)} proposed a new classification of CAMT based on the course and outcome of the disease, as exemplified by 20 patients: CAMT type I (11 patients) was characterized by early onset of severe pancytopenia, decreased bone marrow activity, and very low platelet counts. CAMT type II (9 patients) was somewhat milder and characterized by transient increases of platelet counts up to nearly normal values during the first year of life and an onset of bone marrow failure at age 3 or later." +604499,"Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B (APOB; {107730}). Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by {2:Bello-Chavolla et al., 2018}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial combined hyperlipidemia, see {144250}." +604519,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease and ulcerative colitis, see IBD1 ({266600})." +604536,"Ectodermal dysplasia/skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by widespread skin fragility, alopecia, nail dystrophy, and focal keratoderma with painful fissures. Hyohidrosis and cheilitis are sometimes present (summary by {1:Ersoy-Evans et al., 2006})." +604563,"Autosomal recessive Charcot-Marie-Tooth disease type 4B is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths. CMT4B1 ({601382}) is a clinically similar disorder caused by mutation in the MTMR2 gene ({603557}) on 11q22.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating CMT, see CMT4A ({214400})." +604754,Zinc finger proteins interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 ({604749}) for additional information on zinc finger proteins. +604757,"Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).\n\nFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100})." +604771,"{1:Whyte et al. (1999)} described a novel heritable bone disease characterized radiographically by increasingly numerous and enlarging cyst-like lesions throughout the skeleton. Beginning in early childhood, an affected father, son, and daughter suffered from progressively frequent pathologic fractures involving the cyst-like lesions. Healing occurred uneventfully and with little residual pain or deformity. Biochemical parameters of mineral homeostasis and skeletal turnover were normal. Bone scanning showed increased radioisotope uptake primarily in fractures and in the largest collections of the lesions. The histopathology was uncertain, but the authors suggested that it might reflect a form of intraosseous lipomatosis. They stated that the disorder is inherited as an autosomal dominant with a high degree of penetrance. In a follow-up report, {2:Whyte et al. (2000)} stated that although the deceased father's skeletal defects had been said to represent intraosseous lipomatosis, trephine biopsies of an iliac crest of each of his 2 children revealed essentially unremarkable findings, suggesting that there had been a failure to sample their focal bone pathology. Magnetic resonance imaging of the affected boy's skeleton showed that the bone lesions were fluid-filled. The authors suggested that this may have accounted for the 'negative' biopsy findings." +604772,"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disorder of the heart characterized by a reproducible form of polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion, which can deteriorate into ventricular fibrillation. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. Typically, clinical cardiologic examinations, such as baseline ECG and echocardiogram, reveal mostly normal findings, and postmortem examinations, when carried out, have not disclosed any significant morphologic alterations in the fine structure of the heart, with the exception of mild fatty myocardial infiltration in a few patients. The hallmark of CPVT comprises ventricular arrhythmias of varying morphology not present under resting conditions but appearing only with physical exercise, excitement, or catecholamine administration. These arrhythmias are first seen as ventricular premature complexes, later in bigeminy, followed by bidirectional or polymorphic ventricular tachycardia, which eventually leads to ventricular fibrillation. CPVT can be inherited as an autosomal dominant or recessive trait. Clinical penetrance in this disease ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years. Beta-blockers without sympathomimetic activity are clinically effective in the reduction of syncope, but implantation of an automatic internal defibrillator is occasionally needed in these patients (summary by {1:Bhuiyan et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Catecholaminergic Polymorphic Ventricular Tachycardia\n\nAlso see CPVT2 ({611938}), caused by mutation in the CASQ2 gene ({114251}) on chromosome 1p13; CPVT3 ({614021}), caused by mutation in the TECRL gene ({617242}) on chromosome 4q13; CPVT4 ({614916}), caused by mutation in the CALM1 gene ({114180}) on chromosome 14q32; CPVT5 ({615441}) is caused by mutation in the TRDN gene ({603283}) on chromosome 6q22; and CPVT6 (see {618782}) is caused by mutation in the CALM3 gene ({114183}) on chromosome 19q13." +604777,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {4:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({7:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {3:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {5:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300})." +604805,"Spastic paraplegia-12 is an autosomal dominant neurodegenerative disorder characterized by lower limb spasticity and hyperreflexia, resulting in walking difficulties. Some patients may have urinary symptoms and distal sensory impairment. The age at onset is variable and can range from childhood to adulthood (summary by {2:Montenegro et al., 2012}).\n\nFor a general description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600})." +604809,"Diffuse panbronchiolitis (DPB) is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles. 'Diffuse' refers to the distribution of the lesions throughout both lungs, and 'pan-' refers to the involvement of inflammation in all layers of the respiratory bronchioles. Onset of the disorder occurs in the second to fifth decade of life, and is clinically manifest by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis. If untreated, the disorder progresses to bronchiectasis, respiratory failure, and death (summary by {10:Poletti et al., 2006})." +604827,"For a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy (IGE), see {600669}.\n\nJuvenile myoclonic epilepsy (JME; see {254770}) is a form of idiopathic generalized epilepsy." +604830,"{1:Marcano and Richieri-Costa (1998)} reported a Brazilian family with 5 individuals, in 3 generations, with malar hypoplasia, cleft lip with or without cleft palate, mild upslanting palpebral fissures, and abnormal ears. The authors suggested that this phenotype may represent a novel mandibulofacial dysostosis syndrome, which they designated 'Bauru type,' inherited in an autosomal dominant manner. {2:Zechi-Ceide and Guion-Almeida (1999)} reported a female patient with upslanting palpebral fissures, high nasal bridge, malar hypoplasia, Robin sequence with severe micrognathia, and hypoplastic tragus and ear lobes. No other family members were affected. The authors suggested that this patient may have the same condition with variable expressivity as that reported by {1:Marcano and Richieri-Costa (1998)}. The absence of clinical findings in the parents of the patient supported the possibility of a novel mutation leading to the condition." +604856,"Langerhans cell histiocytosis (LCH) is a rare disorder characterized by the dysregulated proliferation of Langerhans cells and subsequent organ infiltration. Clinical manifestations range from a spontaneously healing isolated osteolytic lesion to a lymphoma-like syndrome with fatal multiorgan failure, in the absence of any cellular evidence of malignancy. Although the disease can present at any age, the peak age at diagnosis is between 1 and 3 years (summary by {3:Arico et al., 1999}).\n\n{6:Egeler and D'Angio (1995)} presented a classification of histiocytosis syndromes in children: class I, Langerhans cell histiocytosis (LCH); class II, histiocytosis of mononuclear macrophages other than Langerhans cells, including familial hemophagocytic lymphohistiocytosis ({267700}); and class III, malignant histiocytic disorders, including histiocytic lymphoma." +604928,"Wolfram syndrome-2 is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding (summary by {4:Mozzillo et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Wolfram syndrome, see WFS1 ({222300})." +604931,"Cortisone reductase deficiency (CRD) results from a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (HSD11B1; {600713}). The oxoreductase activity of 11-beta-HSD requires the NADPH-regenerating enzyme hexose-6-phosphate dehydrogenase (H6PD; {138090}) within the endoplasmic reticulum. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, which in CRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by {5:Lavery et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Cortisone Reductase Deficiency\n\nCORTRD2 ({614662}) is caused by mutation in the HSD11B1 gene ({600713}) on chromosome 1q32." +604966,"The PCDHA gene cluster encodes a family of cadherin-like cell surface proteins that are expressed in neurons and are present at synaptic junctions. Multiple PCDHA mRNAs are produced by splicing a single variable exon to 3 constant region exons. Each variable exon is preceded by a promoter and encodes 6 cadherin-like ectodomains, a transmembrane domain, and a portion of the cytoplasmic domain. The constant region exons encode the remainder of the cytoplasmic domain ({7:Ribich et al., 2006})." +604967,"Cadherins are calcium-dependent cell-cell adhesion molecules, and protocadherins constitute a subfamily of nonclassic cadherins. The PCDHB gene cluster encodes a family of protocadherins. Unlike the PCDHA ({604966}) and PCDHG ({604968}) gene clusters, in which mRNAs are produced by splicing a single upstream variable exon to 3 downstream constant region exons, PCDHB mRNAs are encoded by single-exon genes. Thus, each PCDHB gene encodes the extracellular, transmembrane, and short cytoplasmic domains of the protein ({7:Wu et al., 2001})." +604968,"Cadherins are calcium-dependent cell-cell adhesion molecules, and protocadherins constitute a subfamily of nonclassic cadherins. The PCDHG gene cluster encodes a family of protocadherins. Multiple PCDHG mRNAs are produced by splicing a single variable exon to 3 constant region exons. Each variable exon encodes the extracellular and transmembrane domains of the protocadherin protein, and the constant region exons encode the intracellular domain ({8:Wu et al., 2001})." +605013,"Microhydranencephaly (MHAC) is a severe neurodevelopmental defect characterized by extreme microcephaly, profound motor and mental retardation, spasticity, and incomplete cerebral formation. Radiologic studies show gross dilation of the ventricles resulting from the absence of cerebral hemispheres or severe delay in their development, as well as hypoplasia of the corpus callosum, cerebellum, and brainstem (summary by {2:Guven et al., 2012})." +605019,"Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. Heritable primary causes of HBL include chylomicron retention disease (CMRD; {246700}), abetalipoproteinemia ({200100}), and familial hypobetalipoproteinemia (FHBL) (summary by {4:Martin-Campos et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial hypobetalipoproteinemia, see FHBL1 ({615558})." +605026,"{1:Cilio et al. (2000)} reported a neonate who developed hyperglycemia, glycosuria, and moderate acidosis 12 hours after birth. Islet autoimmunity was indicated by the presence of autoantibodies to insulin and glutamic acid decarboxylase and was confirmed by the finding of marked lymphocytic infiltration in the pancreas (with insulitis), heart, and lungs. At 6 days of age, persistent diffuse eczematous lesions, diarrhea, and eosinophilia developed, and the infant died of necrotizing enterocolitis on day 26. The patient's mother was healthy, with no autoantibodies of the type that were positive in the son. Because severe beta-cell impairment was present at birth, {1:Cilio et al. (2000)} concluded that autoreactive T cells had been primed and reacted against self-antigens during fetal life. Furthermore, they suggested that this rare autoimmune syndrome may have a genetic basis, because the mother of the patient had a great-uncle, a second cousin, and 2 brothers who had died of undetermined causes within 6 months after birth, as well as an uncle and a daughter who had died before birth." +605028,"Although rare mutations in the genes encoding low density lipoprotein (LDL) receptor (LDLR; {606945}) and apolipoprotein B (APOB; {107730}) account for a small proportion of variation in LDL cholesterol (LDLC), twin and adoption studies have indicated that at least 50% of the overall observed variation is genetically determined. In a heterogeneous sample of 3,227 subjects from the National Heart, Lung, and Blood Institute (NHLBI) Family Heart Study, {1:Coon et al. (1999)} found evidence for a common major gene accounting for mild elevations (1.25 standard deviations) of LDLC. Analysis favored a recessive model with a frequency of 0.52 for the gene influencing elevated LDLC, phenotypic means of 113 mg/dl for the normal genotype and 146 mg/dl for the abnormal genotype, and a significant polygenic heritability. This statistically inferred major gene accounted for 24% of the variation in LDLC, with polygenes accounting for another 28%. Using parameters for major gene transmission estimated in the segregation analysis, LDLC showed no linkage to the LDLR gene, the apolipoprotein E gene (APOE; {107741}), or the cholesterol 7-alpha-hydroxylase gene (CYP7A1; {118455}), indicating that the major gene effect influencing mild elevation in LDLC is not explained by any of these candidate loci." +605039,"Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints (summary by {6:Hoischen et al., 2011}).\n\nSee also the C syndrome ({211750}), a disorder with a similar phenotype caused by heterozygous mutation in the CD96 gene ({606037}) on chromosome 3q13." +605040,"{1:Ponzio and Cunningham (2000)} described a 6-year-old boy with clavicular hypoplasia, frontonasal malformation, zygomatic arch hypoplasia, and micrognathia and suggested the acronym CHZAM for the disorder. Intelligence was normal. The clavicular hypoplasia was as striking as that in cleidocranial dysplasia ({119600})." +605041,"Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life ({16:Scheinfeld et al., 2003}).\n\nBecause BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity ({6:Gerretsen et al., 1995}; {9:Lee et al., 2005}; {3:Bowen et al., 2005}; {22:Young et al., 2006}; {15:Saggar et al., 2008}).\n\n{2:Blake and Toro (2009)} provided a review of Brooke-Spiegler syndrome and pathogenic mutations in the CYLD gene." +605074,"Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors ({15:Zbar et al., 1995}). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance.\n\nPapillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease ({193300}), caused by mutation in the VHL gene ({608537}) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by {3:Cohen et al. (1979)}. {2:Bodmer et al. (2002)} reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X.\n\nFor background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC ({144700}).\n\nSee also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; {150800}) caused by germline mutation in the FH gene ({136850})." +605105,"During neural induction, the organizer of the vertebrate embryo instructs neighboring ectodermal cells to become nervous system rather than epidermis. This process was generally thought to occur around the midgastrula stage of embryogenesis. {1:Streit et al. (2000)} isolated a novel gene, which they called Erni (early response to neural induction), from chick, zebrafish, and quail. Erni contains a putative coiled-coil domain and a tyrosine phosphorylation site. When transfected into COS cells, Erni protein was found throughout the cytoplasm in most cells, but was restricted to the nucleus in about 10% of cells. These cells were invariably smaller and fibroblast-like. Chick Erni begins to be expressed at preprimitive streak stages throughout the region that will contribute to the nervous system. By streak stages, its distribution coincides with the known limits of the prospective neural plate. Shortly thereafter, expression clears from the center of the neural plate and becomes confined to its border; transcripts disappear by early somite stages. A quail Hensen node induced chick Erni expression in extraembryonic epiblast in as little as 1 to 2 hours. These observations made chick Erni the earliest known marker for response to organizer signals, even earlier than SOX3 ({313430}). Fibroblast growth factor-8 (FGF8; {600483})-coated beads induced expression of chick Erni as early and as quickly as did the node, i.e., within 1 to 2 hours. FGF8 also strongly induced the expression of SOX3, but not the later neural marker SOX2 ({184429}). {1:Streit et al. (2000)} considered FGF8 to be the best candidate endogenous inducer, because at primitive streak stages it is expressed in the anterior part of the streak, including the node, and is downregulated as the node begins to lose neural-inducing ability. FGF inhibitors reduced the frequency of induction by a graft node, implicating FGF signaling as an essential component of the neural induction pathway initiated by the organizer. Additional observations indicated that neural induction is initiated before the beginning of gastrulation by FGF emanating from a population of organizer precursors at the posterior margin at the embryo. The coming together of this cell population with a second precursor population in the epiblast generates a full functional organizer that provides the remaining signals in a cascade, including bone morphogenetic protein (BMP) antagonists." +605130,"Wiedemann-Steiner syndrome is a congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature; consistent facial features, including long eyelashes, thick or arched eyebrows with a lateral flare, broad nasal bridge, and downslanting and vertically narrow palpebral fissures; mild to moderate intellectual disability; behavioral difficulties; and hypertrichosis on the back (summary by {4:Jones et al., 2012} and {8:Miyake et al., 2016})." +605204,"Torsin-1A is a member of the AAA family of adenosine triphosphatases (ATPases), associated with diverse cellular activities ({35:Konakova et al., 2001})." +605225,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +605229,"For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A ({270800})." +605231,"BBS6 is an autosomal recessive disorder with cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation ({5:Slavotinek et al., 2000}). {6:Zaghloul and Katsanis (2009)} estimated that mutations in the MKKS gene account for 5.8% of the total BBS mutational load.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +605244,"For a general phenotypic description and a discussion of genetic heterogeneity of Carney complex, see CNC1 ({160980})." +605253,"Congenital hypomyelinating neuropathy (CHN) is characterized clinically by onset of hypotonia at birth, areflexia, distal muscle weakness, and very slow nerve conduction velocities (often less than 10 m/s). {5,4:Warner et al. (1997, 1998)} noted that pathologic findings on sural nerve biopsies show hypomyelination of most or all fibers. Based on these findings, CHN is considered to be a result of congenital impairment in myelin formation.\n\nThere has been some controversy and difficulty in differentiating congenital hypomyelination from Dejerine-Sottas syndrome (DSS; {145900}) because there is considerable overlap in clinical presentation. Based on pathologic findings of sural nerve biopsies (the absence of active myelin breakdown and the paucity of the onion bulbs in CHN and the presence of demyelination/remyelination and an abundance of well-organized onion bulbs in DSS; see {1:Balestrini et al., 1991}), CHN is considered to result from a congenital impairment in myelin formation, whereas DSS is thought to be due to aberrant demyelination and subsequent remyelination of the peripheral nerve.\n\nThere is also variation in the prognosis of patients diagnosed with CHN. In patients with CHN, {3:Harati and Butler (1985)} showed correlation of morbidity and mortality with the presence/absence of onion bulbs: patients with few onion bulbs died in early infancy, usually because of difficulty in swallowing and respiration after birth. Patients with atypical onion bulbs survived but were affected with severe motor and sensory impairment. These differences in outcome may represent genetic heterogeneity such that mutations in essential early myelin gene(s) cause a severe phenotype, whereas mutations in other, possibly later acting gene(s), such as MPZ, lead to a less severe outcome.\n\n<Subhead> Genetic Heterogeneity of Congenital Hypomyelinating Neuropathy\n\nSee also CHN2 ({618184}), caused by mutation in the MPZ gene ({159440}) on chromosome 1q23; and CHN3 ({618186}), caused by mutation in the CNTNAP1 gene ({602346}) on chromosome 17q21." +605258,"Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections.\n\nFor a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 ({308230})." +605275,"Noonan syndrome (NS) is a multiple congenital anomalies syndrome characterized by a typical face, congenital heart disease, and short stature (summary by {5:van der Burgt and Brunner, 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950})." +605285,"HMSNR is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy (summary by {6:Sevilla et al., 2013}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease, see CMT4A ({214400})." +605289,"Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM4 have been found to have mental retardation, ectodermal findings, and orofacial clefting ({1:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 ({183600})." +605293,"For a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500})." +605309,"Macrocephaly/autism syndrome is an autosomal dominant disorder characterized by increased head circumference, abnormal facial features, and delayed psychomotor development resulting in autistic behavior or mental retardation ({6:Herman et al., 2007}). Some patients may have a primary immunodeficiency disorder with recurrent infections associated with variably abnormal T- and B-cell function ({12:Tsujita et al., 2016})." +605364,"For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 ({177900})." +605376,"Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another ({4:Srivastava, 1997}). Heterotaxy is a clinically and genetically heterogeneous disorder.\n\nFor a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 ({306955})." +605387,"Mutations in the CHMP4B gene have been found to cause multiple types of cataract, which have been described as posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular.\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 3; CTPP3.'" +605388,"Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development ({2:Hughes and Newton, 1992}). It is a common disorder of childhood, with an incidence of 1 in 250 to 1,000 births ({4:Pharoah et al., 1987}; {1:Bundey and Alam, 1993}). Ataxic cerebral palsy accounts for 5 to 10% of all forms of CP, and approximately 50% of ataxic CP is thought to be inherited as an autosomal recessive trait ({3:McHale et al., 2000}). Also see spastic cerebral palsy ({603513})." +605389,"Hereditary hypotrichosis simplex (HHS) is a rare form of nonsyndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HHS can be largely divided into 2 forms: the scalp-limited form (e.g., {146520}) and the generalized form, such as HYPT1, in which all body hair is affected. HHS is characterized by progressive hair follicle miniaturization, which is a typical feature of androgenetic alopecia (see {109200}). HHS can be inherited either as an autosomal dominant or autosomal recessive trait (e.g., HYPT8, {278150}) (summary by {2:Shimomura et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Nonsyndromic Hypotrichosis\n\nSee also HYPT2 ({146520}), caused by mutation in the CDSN gene ({602593}) on chromosome 6p21; HYPT3 ({613981}), caused by mutation in the KRT74 gene ({608248}) on chromosome 12q13; HYPT4 ({146550}), caused by mutation in the HRURF gene ({619257}) on chromosome 8p21; HYPT5 ({612841}), caused by mutation in the EPS8L3 gene ({614989}) on chromosome 1p13; HYPT6 ({607903}), caused by mutation in the DSG4 gene ({607892}) on chromosome 18q12; HYPT7 ({604379}), caused by mutation in the LIPH gene ({607365}) on chromosome 3q27; HYPT8 ({278150}), caused by mutation in the LPAR6 gene ({609239}) on chromosome 13q14; HYPT9 ({614237}), mapped to chromosome 10q11.23-q22.3; HYPT10 ({614238}), mapped to chromosome 7p22.3-p21.3; HYPT11 ({615059}), caused by mutation in the SNRPE gene ({128260}) on chromosome 1q32; HYPT12 ({615885}), caused by mutation in the RPL21 gene ({603636}) on chromosome 13q12; HYPT13 ({615896}), caused by mutation in the KRT71 gene ({608245}) on chromosome 12q13; and HYPT14 ({618275}), caused by mutation in the LSS gene ({600909}) on chromosome 21q22." +605400,"{2:Gohlich-Ratmann et al. (2000)} described 2 sisters, born of first-cousin parents, with a syndrome consisting of mental retardation, epilepsy, brachymetacarpalia, hirsutism, bulbous short nose, thick floppy ears with abnormal configuration, and gingival hypertrophy. One girl also presented with tetralogy of Fallot and the other with congenital hypothyroidism and bilateral ureteral stenosis. The authors suggested that this syndrome was the same as that reported by {1:Anavi et al. (1989)}, although brachymetacarpia was not a feature in affected family members in that report. In both families, the inheritance was autosomal recessive." +605407,"Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive dystonia. There are 2 main phenotypes: one is a severe complex encephalopathy apparent in the perinatal period, with diurnal fluctuations and autonomic disturbances, and the other shows a less severe course with onset in the first year of life of a progressive hypokinetic-rigid syndrome and generalized dystonia. The less severe type shows a better response to levodopa compared to the more severe type (summary by {10:Stamelou et al., 2012}).\n\nSee also infantile parkinsonism-dystonia syndrome ({613135}), caused by mutation in the SLC6A3 gene ({126455})." +605419,"For a general phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see {181500}." +605428,"DFNB26 is characterized by prelingual severe to profound nonsyndromic hearing loss ({3:Yousaf et al., 2018})." +605429,"DFNB26M is characterized by normal hearing despite the presence of homozygosity for a causative deafness mutation in the GAB1 gene ({2:Yousaf et al., 2018})." +605432,"Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by {1:Niihori et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia\n\nRadioulnar synostosis with amegakaryocytic thrombocytopenia-2 (RUSAT2; {616738}) is caused by heterozygous mutation in the MECOM gene ({165215}) on chromosome 3q26." +605462,"Cutaneous basal cell carcinoma (BCC) is the most common cancer among people of European ancestry ({13:Stacey et al., 2009}). The primary environmental risk factor for BCC is sun exposure, but genetics also has a substantial role. Some of the sequence variants that confer susceptibility seem to operate through their association with fair-pigmentation traits common among Europeans, resulting in reduced protection from the damaging effects of ultraviolet (UV) radiation. Other sequence variants have no obvious role in pigmentation or UV susceptibility but instead seem to operate in the contexts of growth and differentiation of the basal layers of the skin ({12:Stacey et al., 2008}; {3:Epstein, 2008}; {6:Gudbjartsson et al., 2008}; {8:Rafnar et al., 2009}). See ASIP ({600201}), TYR ({606933}), and SHEP5 ({227240}) for examples of basal cell carcinoma associated with fair skin or sensitivity to sun.\n\nBasal cell carcinoma occurs as a feature of multiple syndromes, including basal cell nevus syndrome (BCNS; {109400}), Bazex syndrome ({301845}), Rombo syndrome ({180730}), Brooke-Spiegler syndrome ({605041}), Muir-Torre syndrome ({158320}), and xeroderma pigmentosum (see {278700}).\n\nAbnormalities in the Hedgehog signaling pathway are found in basal cell carcinomas; see SHH ({600725}) and SMOH ({601500}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Basal Cell Carcinoma\n\nSusceptibility to basal cell carcinoma is a genetically heterogeneous trait. The BCC1 locus maps to chromosome 1p36. Also see BCC2 ({613058}) on 1q42; BCC3 ({613059}) on 5p15; BCC4 ({613061}) on 12q13; BCC5 ({613062}) on 9p21; and BCC6 ({613063}) on 7q32. Variation in the 3-prime untranslated region of TP53 ({191170}) increases susceptibility to basal cell carcinoma (BCC7; {614740}).\n\nSomatic mutation contributing to the formation of basal cell carcinoma has been identified in the RASA1 ({139150}), PTCH1 ({601309}), and PTCH2 ({603673}) genes." +605463,"{1:Ishikawa et al. (2000)} reported a Japanese family with an autosomal dominant neurodegenerative disorder with mild chromosome instability and radiation sensitivity. Clinical manifestations included short stature, mental retardation, depression, dysarthria, hyperreflexia, and ataxic gait. MRI demonstrated calcification of bilateral basal ganglia, markedly atrophic spinal cord, and degeneration of the white matter. Cytogenetic studies demonstrated several spontaneous chromosome rearrangements at 14q11.2. Pretreatment with radiation or bleomycin resulted in a high rate of chromatid breaks. The patients showed no evidence of immunodeficiency. {1:Ishikawa et al. (2000)} suggested that this family may represent a new autosomal dominant degenerative disorder, possibly due to a mutation in a gene responsible for DNA double-strand breakage repair." +605472,"Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes ({5:Eudy et al., 1998}). See {276900} for clinical characterization of Usher syndrome types I, II, and III.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A ({276901})." +605479,"Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without progression to liver failure. The cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes, both clinically and biochemically ({2:van Mil et al., 2004})." +605480,"For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus, see {152700}.\n\n{1:Gray-McGuire et al. (2000)} presented the result of a genome scan of 126 pedigrees with 2 or more cases of SLE, including 469 sib pairs (affected and unaffected) and 175 affected relative pairs. Using the revised multipoint Haseman-Elston regression technique for concordant and discordant sib pairs and a conditional logistic regression technique for affected relative pairs, they identified linkage to chromosome 4p16-p15.2 (p = 0.0003, lod = 3.84) and presented evidence of an epistatic interaction between 4p16-p15.2 and chromosome 5p15 in European American families. Using data from an independent pedigree collection, they confirmed the linkage to 4p16-p15.2 in European American families. The most significant linkage that they found in the African American subset was to the previously identified region on 1q (SLEB1; {601744}).\n\n{2:Nath et al. (2002)} found that lod scores were higher when linkage analysis was confined to families in which at least 1 SLE patient was diagnosed with the presence of neuropsychiatric manifestations such as seizures and psychosis. The authors stated that the segregation behavior of this linked locus suggested a dominant mode of inheritance with an almost 100% homogeneous genetic effect in these pedigrees.\n\n{3:Xing et al. (2007)} reanalyzed the 77 European American families consisting of 301 full sib pairs previously studied by {1:Gray-McGuire et al. (2000)} and confirmed significant linkage at 4p (p = 0.000087). The linkage signal at 4p16 was replicated in another cohort of 76 European American families consisting of 221 full sib pairs (p = 0.0047). Two-point and multipoint model-based linkage analyses in all 153 families yielded maximum lod scores of 3.51 and 4.84 at D4S3007, respectively, under a recessive model with penetrance of 0.8. Haplotype analysis using densely spaced microsatellite markers in the linkage region localized the potential SLE susceptibility locus telomeric to D4S2928. A genomewide linkage scan revealed significant interaction between 4p16 and 2p11 (p = 0.003) and 19q13 (p = 0.0094), with marginal interaction at 12q24 (p = 0.066)." +605526,"Alzheimer disease (AD) is a neurodegenerative disorder characterized by subtle onset of memory loss followed by a slowly progressive dementia. The great majority of AD cases are of late onset (LOAD) after age 65 years. LOAD shows complex, nonmendelian patterns of inheritance, and most likely results from the combined effects of variation in a number of genes as well as from environmental factors (summary by {11:Grupe et al., 2006}).\n\nThe Alzheimer disease-6 (AD6) designation refers to a susceptibility locus on chromosome 10q. Although significant associations with several candidate genes on chromosome 10 have been reported, these findings have not been consistently replicated, and they remain controversial ({11:Grupe et al., 2006}).\n\nFor a discussion of genetic heterogeneity of Alzheimer disease, see {104300}." +605544,"Hereditary gingival fibromatosis is a benign disorder manifested by a slowly progressive enlargement of the oral gingival tissues (summary by {1:Xiao et al., 2001}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF ({135300})." +605549,"For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see {120970}." +605552,"A clustering of abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol (HDLC), high blood pressure, and elevated fasting glucose levels is sometimes called metabolic syndrome X ({20:Reaven, 1988}) or abdominal obesity-metabolic syndrome ({4:Bjorntorp, 1991}). The syndrome may affect nearly 1 in 4 U.S. adults and is considered a veritable epidemic ({6:Ford et al., 2002}). It is a major risk factor for both diabetes mellitus (see {125853} and {8:Haffner et al., 1992}) and cardiovascular disease ({11:Isomaa et al., 2001}). The etiology is complex, determined by the interplay of both genetic and environmental factors. The prevalence varies substantially among ethnic groups, with the highest rates in Mexican American women ({19:Park et al., 2003}). Other factors influencing the metabolic syndrome include age, smoking, alcohol, diet, and physical inactivity.\n\n<Subhead> Genetic Heterogeneity of Abdominal Obesity-Metabolic Syndrome\n\nAOMS2 ({605572}) has been mapped to chromosome 17p12. AOMS3 ({615812}) is caused by mutation in the DYRK1B gene ({604556}) on chromosome 19q13. AOMS4 ({618620}) is caused by mutation in the CELA2A gene ({609443}) on chromosome 1p36." +605572,See {605552} for discussion of the phenotype associated with this quantitative trait locus (QTL). +605582,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200})." +605588,"Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a motor median nerve conduction velocity less than 38 m/s (see CMT1B; {118200}); and type 2, the axonal form, with a normal or slightly reduced nerve conduction velocity.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A1 ({118210})." +605589,"Charcot-Marie-Tooth disease type 2B2 (CMT2B2) is an autosomal recessive sensorineural axonal peripheral neuropathy manifest as distal muscle weakness and atrophy and distal sensory impairment. The disorder predominantly affects the lower limbs, resulting in gait impairment, although upper limb and hand involvement also occurs. The age at onset and severity is variable: most have onset in the third decade, although earlier onset has been reported. The disorder is slowly progressive, and some patients may lose independent ambulation later in life. More variable features may include ataxia, dysarthria, cerebellar atrophy, and eye movement abnormalities (summary by {2:Leal et al., 2018}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A1 ({118210})." +605606,"For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 ({177900})." +605635,"Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing. Spironolactone is an effective treatment (summary by {3:Scholl et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial hyperaldosteronism, see HALD1 ({103900})." +605637,"Proximal myopathy and ophthalmoplegia is a relatively mild muscle disorder characterized by childhood onset of symptoms. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. MYPOP can show both autosomal dominant and autosomal recessive inheritance; the phenotype is similar in both forms (summary by {3:Lossos et al., 2005} and {7:Tajsharghi et al., 2014})." +605670,"Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy ({1:Hayward et al., 2003})." +605672,"{1:Amor et al. (2001)} described 2 sisters with onset of progressive cerebellar ataxia at the age of 16 and 32 years, respectively, and secondary amenorrhea due to hypergonadotropic hypogonadism. Sensorineural deafness with vestibular hypofunction and peripheral sensory impairment were also present. Intellect was normal. The authors referred to reports that may represent the same disorder, e.g., that of {2:Skre et al. (1976)}. Cerebellar ataxia and hypogonadotropic hypogonadism is discussed elsewhere; see {212840}." +605711,"Multiple mitochondrial dysfunctions syndrome is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (summary by {4:Seyda et al., 2001}).\n\n<Subhead> Genetic Heterogeneity of Multiple Mitochondrial Dysfunctions Syndrome\n\nSee also MMDS2 ({614299}), caused by mutation in the BOLA3 gene ({613183}) on chromosome 2p13; MMDS3 ({615330}), caused by mutation in the IBA57 gene ({615316}) on chromosome 1q42; MMDS4 ({616370}), caused by mutation in the ISCA2 gene ({615317}) on chromosome 14q24; MMDS5 ({617613}), caused by mutation in the ISCA1 gene ({611006}) on chromosome 9q21; and MMDS6 ({617954}), caused by mutation in the PMPCB gene ({603131}) on chromosome 7q22." +605714,"Cerebral amyloid angiopathy, or cerebroarterial amyloidosis, refers to a pathologic process in which amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions, and progressive dementia. APP-related CAA is the most common form of CAA ({25,26:Revesz et al., 2003, 2009})." +605724,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +605726,"Distal spinal muscular atrophy-2 is an autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by {3:Li et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DSMA, see HMN1 ({182960})." +605727,"For a phenotypic description and a discussion of genetic heterogeneity of otosclerosis, see OTSC1 ({166800}).\n\n{1:Van Den Bogaert et al. (2001)} performed linkage analysis in a Belgian family in which otosclerosis segregated as an autosomal dominant disorder. After excluding linkage to OTSC1 ({166800}) on chromosome 15, they found linkage on 7q, with a multipoint lod score of 3.54. Analysis of key recombinant individuals mapped this second otosclerosis locus, which they designated OTSC2, to a 16-cM interval on 7q34-q36 between markers D7S495 and D7S2426." +605735,"Platelet prostaglandin-endoperoxidase synthase-1 deficiency is a hematologic disorder characterized by mildly increased bleeding due to a platelet defect. The PTGS1 gene ({176805}) encodes prostaglandin-endoperoxidase synthase-1, also known as COX1 or PGHS1, which catalyzes the formation of prostaglandin G2 (PGG2) and prostaglandin H2 from arachidonic acid, and the downstream formation of thromboxane A2 (TXA2) and prostacyclin. Thromboxane A2 is important for platelet aggregation (summary by {6:Matijevic-Aleksic et al., 1996})." +605738,"For a discussion of genetic heterogeneity of isolated colobomatous microphthalmia, see MCOPCB1 ({300345})." +605746,"Anisomastia, or mammary asymmetry, is a common problem in developing adolescent girls. {1:Stratakis et al. (2000)} evaluated a 22-year-old female patient who had severe anisomastia (which had been repaired by surgery) associated with moderate to severe mental retardation, a stocky body habitus with mild obesity, dysmorphic facies (prominent, upslanting palpebral fissures, beaked nose, and a prominent philtrum), webbed neck, low hairline, and severe bilateral clinodactyly of the third, fourth, and fifth fingers with acral (but not large joint) flexion contractures. A peripheral blood high-resolution karyotype revealed additional chromosomal material within the long arm of chromosome 16. Densitometric analysis of amplified polymorphic sequence-tagged sites (STSs) mapping to 16q suggested that the duplication is defined by the noninvolved markers D16S419 (16q12-cen, 66 cM from 16p terminus) and D16S421 (16q13-q21, 84.4 cM), encompassing a maximum of 18.4 cM of genetic distance. The STS analysis showed that the duplication was on the maternally derived chromosome 16, resulting in 2 maternal (and 1 paternal) copies of that region of chromosome 16. The location was further confirmed by BACs that were obtained from a commercially available library, labeled, and used for FISH studies. The BACs containing STSs D16S408, D16S3137, and D16S3032 (markers that correspond to 16q13) showed 2 regions of hybridization, indicating that these sites were duplicated, whereas a BAC containing the STS D16S512 (which corresponds to 16q21-q22) revealed 1 hybridization signal per 16q, indicating that the corresponding region was not involved in the duplication. The distance between the probe signals suggested a tandem duplication." +605749,"A locus on chromosome 9q12-q22 has been found for multiple types of cataract in 1 family. These include cortical, pulverulent, nuclear, and posterior subcapsular cataracts.\n\nThe preferred title/symbol for this entry was formerly 'Cataract, Autosomal Recessive, Early-Onset, Pulverulent; CAAR.'" +605750,"Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by {3:Poulter et al., 2010}).\n\nFor a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 ({133780})." +605751,"Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by {10:Weber et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764}).\n\nBenign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA; {602066}) and paroxysmal kinesigenic choreoathetosis (EKD1; {128200})." +605756,"{1:Hisama et al. (2001)} reported 2 sisters with hypergonadotropic hypogonadism, marked short stature, and recurrent episodes of dehydration with metabolic acidosis. Both patients had normal intelligence and normal 46,XX karyotypes. Laboratory studies suggested mitochondrial dysfunction; however, results of mitochondrial DNA studies and of biochemical analysis of electron transport chain activity in skeletal muscle were normal. The authors suggested that these findings represent a new syndrome." +605779,"Isolated congenital onychodysplasia, here referred to as nonsyndromic congenital nail disorder-7 (NDNC7), is characterized by longitudinal streaks, thinning, and impaired formation of the nail plates leading to increased vulnerability of the free nail margins. The most characteristic finding is a conspicuous reddish dome-shaped prominence of the proximal nail plate from which the longitudinal ridges originate, but this is present in only about half of patients. In most cases, all fingernails and toenails are involved, with some accentuation of the changes in the thumb nails and great toe nails (summary by {2:Hamm et al., 2000} and {3:Krebsova et al., 2000}).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050})." +605804,"For a clinical description of atopic dermatitis and an overview of linkage studies, see {603165}.\n\n{1:Cookson et al. (2001)} examined 148 nuclear families with atopic dermatitis, asthma, or atopic dermatitis and asthma and found linkage for asthma alone or asthma with atopic dermatitis to chromosome 20p at markers D20S115. Linkage of both atopic dermatitis and asthma was not greatly different from that of children with asthma alone, indicating that the combination of atopic dermatitis and asthma may correspond to a genetic subtype of disease." +605805,"For a clinical description of atopic dermatitis and an overview of linkage studies, see {603165}." +605809,"Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by {5:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +605814,"Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most patients show spontaneous improvement by 1 year of age. However, some patients may have a progressive course with continued failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and some may develop chronic or fatal liver disease (summary by {8:Song et al., 2011})." +605818,"By use of autozygosity mapping in a large consanguineous family from the United Arab Emirates, {1:Pulleyn et al. (2000)} identified a locus for autosomal recessive nonsyndromic, prelingual, sensorineural hearing impairment, designated DFNB27, on chromosome 2q23-q31. An ancestral haplotype was shared by all 7 affected members, with a 17-cM minimum critical region between markers D2S2157 and D2S2273 and a maximum 2-point lod score of 5.18 at theta = 0.0 for marker D2S2257. The DFNB27 critical region overlapped with the critical region to which another deafness locus, DFNA16 ({603964}), had been mapped in a family with fluctuating, progressive autosomal dominant nonsyndromic hearing loss. The authors noted that several sodium-channel alpha-subunit genes map to the critical region and are candidate genes for both DFNA16 and DFNB27." +605838,"{1:Cormier-Daire et al. (2001)} reported a female fetus with an apparently novel lethal skeletal dysplasia that clinically resembled achondrogenesis (see {200600}), but with distinctive radiologic and chondroosseous morphologic features. These included bifid distal ends of the long bones of the limbs; absent vertebral body ossification; a unique 'baby rattle' pelvic configuration with tall and broad ilia; absent endochondral ossification; regions of mesenchymal cells within the resting cartilage; and abnormal mesenchymal ossification. Both parents were Caucasian. A diagnosis of achondrogenesis was made at 32 weeks, and the pregnancy was terminated by Pitocin-induced vaginal delivery. At birth the infant was noted to have micromelia, large fontanels, pronounced midface hypoplasia, a short neck, and a protuberant abdomen. Other than the skeletal abnormalities, a postmortem examination showed only pulmonary hypoplasia." +605841,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}." +605844,"For a clinical description of atopic dermatitis and an overview of linkage studies, see {603165}." +605845,"For a clinical description of atopic dermatitis and an overview of linkage studies, see {603165}." +605911,"Mitochondrial HMG-CoA synthase deficiency (HMGCS2D) is an inherited metabolic disorder caused by a defect in the enzyme that regulates the formation of ketone bodies. Patients present with hypoketotic hypoglycemia, encephalopathy, and hepatomegaly, usually precipitated by an intercurrent infection or prolonged fasting (summary by {1:Aledo et al., 2006})." +605934,"For phenotypic information and a general discussion of genetic heterogeneity in holoprosencephaly (HPE), see HPE1 ({236100})." +605944,"{1:Esmer et al. (2001)} described 2 patients with a combination of liver polycystic disease and polydactyly. One patient was an 18-month-old boy with mental retardation, polydactyly, chronic renal failure, convergent strabismus, and hepatic fibrosis. Postaxial polydactyly involved both the hands and the feet. The second patient was a male neonate with liver fibrocystic disease and polydactyly of all 4 extremities. The possibility of autosomal recessive inheritance was suggested because the parents of the second patient were third cousins. Although some features suggested Bardet-Biedl syndrome ({209900}), Meckel syndrome ({249000}), and some other conditions, {1:Esmer et al. (2001)} suggested that this association represents a distinct entity." +605959,"HR44 is the host antigen that cross-reacts with the parasite antigen Ov39 of the filarial nematode Onchocerca volvulus, the causative agent of onchocerciasis (river blindness). Disease in the anterior parts of the eye is associated with infection intensity, as measured by microfilarial load. Blindness, however, is often due to disease in the choroid, retina, and optic nerve. In these parts of the eye disease may be due as much to autoimmunity as to parasite burden (summary by {1:Braun et al., 1995})." +606002,"Autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 is a neurodegenerative disorder characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein (AFP; {104150}). Oculomotor apraxia is a common but inconsistent finding, found in about 50% of patients; hence this disorder is sometimes referred to as 'ataxia-oculomotor apraxia-2' (AOA2) ({14:Moreira et al., 2004}; summary by {11:Ichikawa et al., 2013}).\n\n{9:Duquette et al. (2005)} emphasized that oculomotor apraxia is not a universal finding in this disorder and suggested the name 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy-2' (SCAN2) to distinguish it from SCAN1 ({607250}).\n\nFor a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 ({208920}).\n\nFor a discussion of genetic heterogeneity of SCAN, see SCAN1 ({607250})." +606003,"Transaldolase deficiency (TALDOD) is a rare inborn error of pentose metabolism. Typical features include intrauterine growth restriction, triangular face, loose wrinkly skin at birth, and development of progressive liver failure (summary by {4:Lee-Barber et al., 2019})." +606053,"IDDAS is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits ({3:Deriziotis et al., 2014}; {2:den Hoed et al., 2018})." +606054,"Propionic acidemia is an autosomal recessive metabolic disorder caused by defective functioning in the mitochondrial enzyme propionyl CoA carboxylase (PCC), resulting in the accumulation of propionic acid metabolites, and dysfunction in the respiratory chain and urea cycle pathways. The disorder is clinically heterogeneous. A neonatal-onset form is characterized by poor feeding, vomiting, and fatigue in the first days of life in a previously healthy infant, and if untreated, may be followed by lethargy, seizures, coma, and death. The neonatal form is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenia. A late-onset form in older children and adults has a milder phenotype, is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction, which may result in dystonia and choreoathetosis, and cardiomyopathy. Metabolically unstable individuals can have an acute decompensation that resembles the neonatal presentation, often precipitated by a catabolic stress such as infection, injury, or surgery, or an excessive intake of intact (i.e., complete, dietary, or natural) protein. Long-term manifestations of neonatal and late onset of propionic acidemia can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. Other less common manifestations include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure (summary by {15:Jurecki et al., 2019})." +606069,"Hemochromatosis type 4 (HFE4) is a dominantly inherited iron overload disorder with heterogeneous phenotypic manifestations that can be classified into 2 groups. One group is characterized by an early rise in ferritin (see {134790}) levels with low to normal transferrin ({190000}) saturation and iron accumulation predominantly in macrophages. The other group is similar to classical hemochromatosis, with high transferrin saturation and prominent parenchymal iron loading (summary by {2:De Domenico et al., 2005}).\n\nFor general background information and a discussion of genetic heterogeneity of hereditary hemochromatosis, see {235200}." +606070,"Amyotrophic lateral sclerosis-21 (ALS21) is an autosomal dominant neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia (summary by {2:Johnson et al., 2014}).\n\nFor a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400})." +606071,"HMSN2C, also known as Charcot-Marie-Tooth disease type 2C (CMT2C), is an autosomal dominant form of peripheral axonal neuropathy with diaphragmatic and vocal cord paresis. Age at onset and severity is variable ({6:Dyck et al., 1994}; summary by {9:Klein et al., 2011})." +606072,"Hereditary rippling muscle disease is an autosomal dominant disorder characterized by mechanically triggered contractions of skeletal muscle. In rippling muscle disease, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. RMD is usually inherited as an autosomal dominant trait, but autosomal recessive inheritance has also been reported ({5:Kubisch et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Rippling Muscle Disease\n\nAnother locus for RMD, designated RMD1 ({600332}), maps to chromosome 1q41." +606082,"Multinodular goiter is a common disorder characterized by nodular enlargement of the thyroid gland (summary by {1:Takahashi et al., 2001}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of multinodular goiter, see MNG1 ({138800})." +606129,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {2:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650})." +606159,"Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, cognitive involvement, and mode of inheritance is variable (review by {6:Gregory et al., 2009})." +606170,"Genitopatellar syndrome is a rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies (summary by {11:Penttinen et al., 2009})." +606174,"Deletion of the gulonolactone oxidase gene on 8p21 is a genetic disease that affects 100% of humans. Lack of the enzyme causes severe connective tissue disease and makes humans dependent upon dietary supplements of ascorbic acid; see {240400}. {1:Gilbert and Zevit (2001)} pointed out that another genetic condition, affecting 100% of human males, is congenital lack of a baculum (os priapi; os penis). Whereas most mammals (including common species such as dogs and mice) and most other primates (except spider monkeys) have a penile bone, human males lack this bone and must rely on fluid hydraulics to maintain erections. The size of the rodent baculum is regulated by the posterior members of the HOXD ({142987}) set of transcription factors ({2:Williams-Ashman and Reddi, 1991}; {3:Zakany et al., 1997}). {1:Gilbert and Zevit (2001)} suggested that it was not a costal rib but rather the penile 'rib' or baculum that God removed from Adam to create Eve (Genesis 2:21-23). Genesis also states that 'the Lord God closed up the flesh.' {1:Gilbert and Zevit (2001)} suggested that the raphe on the penis and scrotum was thought to be the surgical scar." +606175,"Isolated cases of carnitine acetyltransferase (CRAT; {600184}) deficiency have been reported. {1:DiDonato et al. (1979)} observed carnitine acetyltransferase deficiency in brain, liver, kidney, and cultured fibroblasts in a girl suffering from intermittent ataxia, oculomotor palsy, hypotonia, mental confusion, and disturbances of consciousness. {2:Przyrembel (1987)} described a baby with CRAT deficiency in brain, heart, and kidney in association with poor respiration and failure to thrive." +606176,"Permanent neonatal diabetes mellitus-1 (PNDM1) is a rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well ({3:Njolstad et al., 2001}).\n\nPNDM is distinct from transient neonatal diabetes mellitus (TNDM; see {601410}) and childhood-onset autoimmune diabetes mellitus type I (IDDM; {222100}).\n\n<Subhead> Genetic Heterogeneity of Permanent Neonatal Diabetes Mellitus\n\nPNDM2 ({618856}) is caused by heterozygous mutation in the KCNJ11 ({600937}) gene on chromosome 11p15.1.\n\nPNDM3 ({618857}) is caused by heterozygous or homozygous mutation in the ABCC8 ({600509}) gene on chromosome 11p15.1.\n\nPNDM4 ({618858}) is caused by heterozygous or homozygous mutation in the INS ({176730}) gene on chromosome 11p15.5.\n\nPancreatic agenesis, which results in exocrine pancreatic deficiency as well as permanent neonatal-onset diabetes mellitus, can be caused by mutation in the PDX1 gene ({600733}). Pancreatic agenesis associated with cerebellar agenesis ({609069}) can be caused by mutation in the PTF1A gene ({607194}). Pancreatic agenesis associated with congenital cardiac defects ({600001}) can be caused by mutation in the GATA6 gene ({601656})." +606177,"The features of pars planitis are vitritis with peripheral retinal vasculitis, snowbank exudates, and vitreous condensation over the inferior peripheral retina and pars plana, usually in both eyes. Familial pars planitis was first reported by {1:Culbertson et al. (1983)} who described 9 affected members of 4 families: twin sisters, a mother and daughter, 2 brothers, and a sister and 2 brothers.\n\n{2:Malinowski et al. (1993)} established an association between HLA-DR2 and pars planitis. In addition, they found that 5 of their HLA-DR2-positive pars planitis patients subsequently developed multiple sclerosis (MS; {126200}). {4:Raja et al. (1999)} corroborated a relationship among pars planitis, HLA-DR2 (specifically the HLA-DR15 allele), and MS. Of their 37 patients with pars planitis, 6 (16%) developed MS.\n\n{3:Oruc et al. (2001)} investigated HLA class II suballeles in 28 pars planitis patients and 50 normal controls. Pars planitis was associated with increased frequencies of the HLA-DR2 suballeles HLA-DR15, -DR51, and -DR17. The authors suggested that there is an immunogenic predisposition to pars planitis." +606179,"Aneurysmal bone cysts are benign primary or secondary lesions that are rapidly expansive and locally destructive. They are located in the posterior elements of the vertebral column or the flat or long bones of patients under 30 years of age. The cysts are blood-filled and separated by septa containing spindle cells, trabeculae of bone, and osteoclastic giant cells ({1:Biesecker et al., 1970}). Histopathologically and radiographically, aneurysmal bone cysts are similar to telangiectactic osteosarcoma from which they must be differentiated. {3:Panoutsakopoulos et al. (1999)} described 3 cases of aneurysmal bone cysts with chromosomal anomalies; 16q22 was involved in all 3 patients and 2 of them had a recurrent t(16;17)(q22;p13). {2:Herens et al. (2001)} reported 2 additional cases of aneurysmal bone cysts with a t(16;17)(q22;p13). One patient was a 7-year-old girl who was admitted to hospital because of pain in the hip and left knee, and an expansile lytic lesion of the L5 vertebra involving the posterior arch and destroying the lateral pedicles was found. The second patient was a 5-year-old girl with an expansive mass in the occipital region of the skull. The findings in these patients suggested alteration of genes in 16q22 and/or 17p13." +606187,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}." +606190,"Following radiotherapy, secondary cancer may occur after a long latent period. {1:Zattara-Cannoni et al. (2001)} reported cytogenetic studies of 6 cases of radiation-induced meningiomas. Two of the cases occurred after radiation for tinea capitis, after an interval of 17 and 54 years, respectively; in the first of these cases, local recurrence occurred after an additional period of 29 years. Using spectral karyotyping (SKY) and comparative genomic hybridization (CGH), {1:Zattara-Cannoni et al. (2001)} found that all 6 cases had the same chromosome abnormality, t(1;22)(p11;q12). They suggested that a gene on chromosome 1p11 is involved in radiation-induced meningiomas. A locus in the 22q12.3-qter region is a well-established site of mutation causing meningioma (see {156100})." +606215,"The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by {5:Craig, 2006}).\n\nAVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome ({190685}), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome ({208530}) (summary by {3:Carmi et al., 1992}).\n\n<Subhead> Genetic Heterogeneity of Isolated Atrioventricular Septal Defect\n\nAn AVSD susceptibility locus (AVSD1) maps to chromosome 1p31-p21; AVSD2 ({606217}) is caused by mutation in the CRELD1 gene ({607170}) on chromosome 3p25; AVSD3 ({600309}) is caused by mutation in the GJA1 gene ({121014}) on chromosome 6q22; AVSD4 ({614430}) is caused by mutation in the GATA4 gene ({600576}) on chromosome 8p23.1; and AVSD5 ({614474}) is caused by mutation in the GATA6 gene ({601656}) on chromosome 18q11.\n\nSomatic mutations in the HAND1 gene ({602406}) have been identified in tissue samples from patients with AVSDs." +606232,"Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features ({16:Precht et al., 1998}; {15:Prasad et al., 2000}; {8:Durand et al., 2007})." +606240,"Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; {155240}). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell ({607464}), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis {175100}, Carney complex {160980}) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by {4:Vriens et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550})." +606243,"Alveolar soft part sarcoma is an unusual tumor with highly characteristic histopathology and ultrastructure, controversial histogenesis, and enigmatic clinical behavior ({3:Lieberman et al., 1989}; {4:Ordonez, 1999}). The typical histology of ASPS shows well-defined nests of cells with abundant pink cytoplasm. The loss of central cohesion produces a pseudoalveolar appearance ({2:Ladanyi et al., 2001})." +606255,"Stature (adult height) is an example of a complex genetic trait involving multiple genetic loci. Although complex traits are often difficult to study by linkage analysis, {5:Hirschhorn et al. (2001)} suggested that stature is a suitable complex trait for study because of the high heritability and the relatively limited contribution of environmental factors. Thus, linkage analysis has been used to identify quantitative trait loci for stature (STQTL) including STQTL1 on chromosome 6q24, STQTL2 ({606256}) on chromosome 7q31-q36, STQTL3 ({606257}) on chromosome 12p11-q14, STQTL4 ({606258}) on chromosome 13q32-q33, STQTL5 ({608982}) on chromosome 3p26, STQTL6 ({300591}) on chromosome Xq24, STQTL7 ({609822}) on chromosome 1p21, STQTL8 ({610114}) on chromosome 9q22, STQTL9 ({611547}) on chromosome 12q14.3, STQTL10 ({612221}) on chromosome 3q23, STQTL11 ({612223}) on chromosome 7q21-q22, STQTL12 ({612224}) on chromosome 4q28-q32, STQTL13 ({612226}) on chromosome 4p13.3, STQTL14 ({612228}) on chromosome 20q11.22, STQTL15 ({612578}) on chromosome 8q21.13, STQTL16 ({612579}) on chromosome 15q22.31, STQTL17 ({612737}) on chromosome 7p15, STQTL18 ({612892}) on chromosome 6p22.1, STQTL19 ({612893}) on chromosome 6p21.31, STQTL20 ({612894}) on chromosome 13q14.3, STQTL21 ({613440}) on chromosome 2q37.1, STQTL22 ({613547}) on chromosome 16q24, STQTL23 ({613548}) on chromosome 1p32, and STQTL24 ({613549}) on chromosome 2p16.\n\nSee also X-linked short stature ({300582}) associated with mutations in the SHOX gene ({312865}).\n\n<Subhead> Associations Pending Confirmation\n\nFor discussion of a possible association between short stature and variation in the CYP26C1 gene, see {608428}." +606256,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +606257,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +606258,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +606263,"For a phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see {167250}." +606325,"Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another ({5:Srivastava, 1997}). Heterotaxy is a clinically and genetically heterogeneous disorder.\n\nFor a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 ({306955})." +606348,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +606349,"Pathologic gambling is defined as a chronic and progressive failure to resist impulses to gamble accompanied by gambling behavior that compromises or damages personal, family, or vocational pursuits. The prevalence of pathologic gambling in the adult American population is estimated to be between 1 and 3% (review by {2:Eisen et al., 1998}).\n\n{1:Comings et al. (2001)} noted that some form of gambling is legal in all but 2 states in the U.S., and gambling on the Internet is available to anyone with a computer regardless of the local laws. They stated that as access to gambling has increased, there has been a corresponding increase in the frequency of addiction to gambling, known as pathologic gambling." +606353,"Although primary lateral sclerosis is similar to amyotrophic lateral sclerosis (ALS; {105400}), they are considered to be clinically distinct progressive paralytic neurodegenerative disorders. Following a period of diagnostic confusion, the clinical distinction between ALS and PLS became clear and diagnostic criteria established ({6:Pringle et al., 1992}). PLS is characterized by degeneration of the upper motor neurons and the corticospinal and corticobulbar tracts, whereas ALS is a more severe disorder characterized by degeneration of both the upper and lower motor neurons. A diagnosis of PLS is essentially one of exclusion ({8:Sotaniemi and Myllyla, 1985}; {11:Younger et al., 1988}; {10:Yang et al., 2001})." +606367,"Immunodeficiency-41 is an autosomal recessive complex disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation (summary by {3:Goudy et al., 2013})." +606391,"Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity ({18:Vaxillaire and Froguel, 2008}).\n\n<Subhead> Genetic Heterogeneity of MODY\n\nMODY1 ({125850}) is caused by heterozygous mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A; {600281}) on chromosome 20.\n\nMODY2 ({125851}) is caused by heterozygous mutation in the glucokinase gene (GCK; {138079}) on chromosome 7.\n\nMODY3 ({600496}) is caused by heterozygous mutation in the hepatocyte nuclear factor-1alpha gene (HNF1A; {142410}) on chromosome 12q24.2.\n\nMODY4 ({606392}) is caused by heterozygous mutation in the pancreas/duodenum homeobox protein-1 gene (PDX1; {600733}) on chromosome 13q12.1.\n\nMODY5 ({137920}) is caused by heterozygous mutation in the gene encoding hepatic transcription factor-2 (TCF2; {189907}) on chromosome 17cen-q21.3.\n\nMODY6 ({606394}) is caused by heterozygous mutation in the NEUROD1 gene ({601724}) on chromosome 2q32.\n\nMODY7 ({610508}) is caused by heterozygous mutation in the KLF11 gene ({603301}) on chromosome 2p25.\n\nMODY8 ({609812}), or diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the CEL gene ({114840}) on chromosome 9q34.\n\nMODY9 ({612225}) is caused by heterozygous mutation in the PAX4 gene ({167413}) on chromosome 7q32.\n\nMODY10 ({613370}) is caused by heterozygous mutation in the insulin gene (INS; {176730}) on chromosome 11p15.5.\n\nMODY11 ({613375}) is caused by heterozygous mutation in the BLK gene ({191305}) on chromosome 8p23.\n\nMODY13 ({616329}) is caused by heterozygous mutation in the KCNJ11 gene ({600937}) on chromosome 11p15.\n\nMODY14 ({616511}) is caused by heterozygous mutation in the APPL1 gene ({604299}) on chromosome 3p14." +606408,"Classic-like Ehlers-Danlos syndrome is a connective tissue disorder characterized by hyperextensible skin, hypermobile joints, and tissue fragility ({1:Burch et al., 1996}).\n\nFor a phenotypic description of classic-type EDS, see {130000}." +606445,"Persistent polyclonal B-cell lymphocytosis (PPBL) is characterized by chronic, stable, persistent, and polyclonal lymphocytosis, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum IgM. It is significantly associated with cigarette smoking (summary by {1:Cornet et al., 2009})." +606482,"Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms.\n\n<Subhead> Classification\n\nCMT neuropathy is subdivided into CMT1 (see {118200}) and CMT2 (see {118210}) types on the basis of electrophysiologic and neuropathologic criteria. CMT1, or hereditary motor and sensory neuropathy type I (HMSN I), is a demyelinating neuropathy, whereas CMT2, or HMSN II, is an axonal neuropathy. Most patients with CMT are classified as having CMT1 or CMT2 by use of a cut-off value of 38 m/s for the motor median nerve conduction velocity (NCV). However, in some families with CMT, patients have motor median NCVs ranging from 25 to 45 m/s. Families of this type were reported by {7:Salisachs (1974)} and {3:Davis et al. (1978)}. {3:Davis et al. (1978)} proposed that this form be designated 'intermediate' CMT.\n\n{2:Claeys et al. (2009)} stated that some CMT families may have an even broader range of NCV than 25 to 45 m/s, with the lowest levels around 25 and the highest levels within the normal range (50+ m/s). They also suggested that the term 'intermediate' should not be used to describe a single NCV value, but rather the CMT subtype at the level of the family (e.g., in families with a range or combinations of NCV values).\n\n{1:Berciano et al. (2017)} provided a detailed review of the different forms of intermediate CMT, noting that diagnoses may be controversial because of variable classification issues. The authors presented an algorithm for the interpretation of electrophysiologic studies in CMT, and suggested that nerve conduction studies should be conducted on the upper arm (axilla to elbow). They noted that distal axonal degeneration can result in secondary myelination defects, which may cause significantly decreased motor NCV and CMAP values that may be misinterpreted.\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Intermediate CMT\n\nIn addition to CMTDIB, which is caused by mutation in the DNM2 gene, other forms of dominant intermediate CMT include CMTDIC ({608323}), caused by mutation in the YARS gene ({603623}) on chromosome 1p35-p34l; CMTDID ({607791}), caused by mutation in the MPZ gene ({159440}) on chromosome 1q22; CMTDIE with focal segmental glomerulosclerosis (CMTDIE; {614455}), caused by mutation in the INF2 gene ({610982}) on chromosome 14q; CMTDIF ({615185}), caused by mutation in the GNB4 gene ({610863}) on chromosome 3q26; and CMTDIG ({617882}), caused by mutation in the NEFL gene ({162280}) on chromosome 8p21.\n\nThe entity formerly known as CMTDIA ({606483}), which maps to chromosome 10q24.1-q25.1, has been reclassified as CMT2GG. It is caused by mutation in the GBF1 gene ({603698}) on chromosome 10q24." +606483,"Charcot-Marie-Tooth disease type 2GG (CMT2GG) is an autosomal dominant axonal peripheral neuropathy characterized by slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs and causing difficulty walking. The onset is usually in adulthood, although rare patients may have mild symptoms from childhood. Some individuals may also have involvement of the hands. Although most patients have hypo- or areflexia at the ankles, distal sensory impairment is not always present, indicating a spectrum of disease encompassing both distal hereditary neuropathy and axonal CMT. Electrophysiologic studies are consistent with a axonal process (summary by {3:Mendoza-Ferreira et al., 2020}).\n\nFor a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 ({118210})." +606519,"PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental defects, such as sternal clefting or supraumbilical raphe, are present (summary by {1:Bracken et al., 2011})." +606527,"{1:Megarbane et al. (2001)} reported 2 brothers, whose parents were first-cousin Iraqi Muslims, with short stature, abnormal face (flat nasal bridge, beaked nose, bilateral ptosis, flat philtrum), joint laxity and dislocation, hernias, delayed bone age, and severe psychomotor retardation. In both boys, talipes equinovarus was noted at birth and was treated surgically at the age of 18 months. The authors suggested that this multiple congenital anomaly/mental retardation (MCA/MR) syndrome was most likely an autosomal recessive disorder." +606545,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({9:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {8:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300})." +606552,"For a phenotypic description and a discussion of genetic heterogeneity of episodic ataxia, see EA1 ({160120})." +606554,"For a phenotypic description and a discussion of genetic heterogeneity of episodic ataxia, see EA1 ({160120})." +606579,"Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases. It is a genetically complex disorder involving multiple susceptibility genes and unknown environmental triggers. Patients with generalized vitiligo have elevated frequencies of other autoimmune diseases, suggesting that these diseases involve shared genetic components (summary by {3:Jin et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Vitiligo-Associated Multiple Autoimmune Disease Susceptibility\n\nAdditional forms of vitiligo-associated multiple autoimmune disease susceptibility have been mapped to chromosomes 1p31 (VAMAS2, {607836}, associated with mutation in the FOXD3 gene, {611539}), 7 (VAMAS3; {608391}), 8 (VAMAS4; {608392}), 4 (VAMAS5; {609400}), and 6p21.3 (VAMAS6; {193200})." +606612,"MDDGB5 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities ({1:Brockington et al., 2001}). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({5:Mercuri et al., 2006}).\n\nFor a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 ({613155})." +606616,"For a phenotypic description and a discussion of genetic heterogeneity of susceptibility loci for dyslexia, see DYX1 ({127700})." +606632,"The major histocompatibility complex (MHC) is a source of unique individual odors that influence individual recognition, mating preferences, nesting behavior, and selective block of pregnancy in animals. Such phenomena have been difficult to study in humans because the HLA (human MHC) loci are so highly polymorphic. Among humans, individuals can detect the odors encoded by genetic information, discriminating between nearly identical strains of mice that differ only at 1 or a few MHC loci ({1:Gilbert et al., 1986}). In addition, individuals have described body odors to be pleasant when they are from people who have few HLA alleles that match their own ({4:Wedekind et al., 1995}).\n\n{2:Jacob et al. (2002)} sought to determine the resolution of the human ability to discriminate among HLA-associated odors by investigating women's odor choice based on the number of matches to their own HLA. They performed the study in a Hutterite community where, in contrast to the virtually unlimited number of HLA haplotypes present in outbred populations, there were only 67 HLA haplotypes. They studied 49 unmarried women who had never been pregnant. The odor donors were men of diverse ethnicity and a different ethnicity compared with that of the isolated community, but who nonetheless carried HLA alleles found in the community as well as completely foreign alleles. At each of the 5 HLA loci studied, there was a possibility of up to 2 allele matches, for a maximum of 10 matches. To collect body odors, each donor wore the same T-shirt for 2 consecutive nights. The women were not told the source of the odors. They rated each T-shirt odor for 4 attributes: familiarity, intensity, pleasantness, and spiciness. Unexpectedly, the women in this study rated the human odors in absolute terms as slightly pleasant and more pleasant than common household odors.\n\nThe study by {2:Jacob et al. (2002)} showed that women can detect differences of 1 HLA allele among male odor donors with different MHC genotypes. Notably, the mechanism for a woman's ability to discriminate and choose odors was based on HLA alleles inherited from her father but not her mother. The parents' HLA alleles that she did not inherit showed no relationship with odor choice, despite exposure to these HLA-encoded odors throughout her life. The data indicated that paternally inherited HLA-associated odors influence odor preference and may serve as social cues.\n\n{2:Jacob et al. (2002)} pointed out that in humans and mice, and perhaps other animal species as well, the detection of MHC-mediated body odor may result from the close linkage between the MHC loci and olfactory receptor genes; e.g., olfactory receptor-2 (OR2H3; {600578}) maps to 6p21.3, where the cluster of HLA genes are located. MHC-specific odors may be soluble MHC proteins or their vagile components, odor molecules bound selectively to MHC proteins, or by-products of MHC-specific bacteria colonization in skin or axillae.\n\n{3:Wedekind (2002)} presented reasons that he felt the conclusions of {2:Jacob et al. (2002)} that women have paternally inherited odor preferences and that they prefer odors of MHC-similar donors are not justified. He based this on the fact that the study was done in members of an inbred group that has only a few haplotypes, thus increasing the risk that, in a given sample, MHC alleles will not be equally distributed to maternally and paternally inherited genotypes." +606640,"Amyotrophic lateral sclerosis-3 (ALS3) is a neurodegenerative disorder characterized by the death of motor neurons in the cortex, brainstem, and spinal cord, resulting in progressive muscle weakness and atrophy and death from respiratory failure, usually within 3 to 5 years of symptom onset ({1:Brown, 1995}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400})." +606658,"SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have disabling action and postural tremor, and some have pyramidal tract affection, dorsal column involvement, and gaze palsy. Brain imaging shows cerebellar atrophy mainly affecting the vermis (summary by {11:Synofzik et al., 2011}).\n\nHeterozygous mutation in the ITPR1 gene can also cause SCA29 ({117360}), which is distinguished by onset in infancy of delayed motor development followed by nonprogressive ataxia and mild cognitive impairment.\n\nAutosomal dominant 'pure' cerebellar ataxia, classified as ADCA type III by {3,4:Harding (1983, 1993)}, is a genetically heterogeneous disorder (see, e.g., {117210}).\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +606660,"Uveal melanoma ({155720}) is the most common primary intraocular malignancy. Monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease. To obtain positional information on putative tumor suppressor genes on chromosome 3, {1:Tschentscher et al. (2001)} investigated tumors from 333 patients by comparative genomic hybridization, microsatellite analysis, or conventional karyotype analysis. A partial deletion of the long arm was found in 8 tumors, and the smallest region of deletion overlap (SRO) spanned 3q24-q26. They found 6 tumors with a partial deletion of the short arm and defined a second SRO of about 2.5 Mb in 3p25. {1:Tschentscher et al. (2001)} interpreted their findings as suggesting a role for 2 tumor suppressor genes in metastasizing uveal melanoma: one on 3q, here designated UVM1, and a second on 3p25, here designated UVM2 ({606661}). The involvement of 2 tumor suppressor genes may explain the loss of an entire chromosome 3 in metastatic uveal melanomas." +606661,"Uveal melanoma ({155720}) is the most common primary intraocular malignancy. Monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease. To obtain positional information on putative tumor suppressor genes on chromosome 3, {2:Tschentscher et al. (2001)} investigated tumors from 333 patients by comparative genomic hybridization, microsatellite analysis, or conventional karyotype analysis. A partial deletion of the long arm was found in 8 tumors, and the smallest region of deletion overlap (SRO) spanned 3q24-q26. They found 6 tumors with a partial deletion of the short arm and defined a second SRO of about 2.5 Mb in 3p25. This SRO did not overlap with the von Hippel-Lindau disease gene ({608537}). {2:Tschentscher et al. (2001)} interpreted their findings as suggesting a role for 2 tumor suppressor genes in metastasizing uveal melanoma: one on 3q, here designated UVM1 ({606660}), and a second on 3p25, here designated UVM2. The involvement of 2 tumor suppressor genes may explain the loss of an entire chromosome 3 in metastatic uveal melanomas.\n\n{1:Parrella et al. (2003)} mapped both arms of chromosome 3 in 21 uveal melanomas that did not show monosomy 3 in previous allelotype studies. DNA was isolated from microdissected paraffin sections of posterior uveal melanoma treated by enucleation from 1993 to 1998 and archived by the Eye Pathology Laboratory of the Wilmer Ophthalmologic Institute, Johns Hopkins. In an initial screening, 14 microsatellite markers on 3p and 13 on 3q were used. Loss of heterozygosity for at least 1 marker was found in 9 of 21 tumors (43%) on 3p and 8 of 21 tumors (38%) on 3q. Two common regions of allelic loss on 3p were further mapped with an additional 14 microsatellite markers. A 1.4-Mb minimal region of allelic loss was identified between microsatellite markers D3S3610 and D3S1554 on 3p25.2-p25.1. Ten tumors had allelic loss in this region; 2 of these tumors had corresponding putative homozygous deletions." +606662,"Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS ({1:Selicorni et al., 2002}). WS type 2C (WS2C) maps to chromosome 8p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580})." +606668,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +606674,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease and ulcerative colitis, see IBD1 ({266600})." +606675,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease and ulcerative colitis, see IBD1 ({266600})." +606685,"Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A ({115200})." +606689,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}." +606693,"Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see {234200}) (summary by {2:Bruggemann et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.\n\nBiallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; {617225}), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by {7:Estrada-Cuzcano et al., 2017})." +606703,"Autosomal dominant dyskinesia with orofacial involvement (DSKOD) is a complex neurologic disorder characterized by onset of involuntary choreiform, myoclonic, and dystonic movements involving the neck, limb, and facial muscles in the first decade of life. The manifestations and severity are variable; the disorder can also include episodic weakness and spasticity, resulting in difficulty walking and talking. It is generally nonprogressive, especially in adulthood, and dementia is not observed, although some individuals may have difficulties in school or behavioral abnormalities, such as social isolation (summary by {5:Chen et al., 2014}; {3:Carapito et al., 2015}; {7:Dean et al., 2019}; {15:Vijiaratnam et al., 2019}).\n\n{15:Vijiaratnam et al. (2019)} provided a review of ADCY5-related dyskinesia, noting that the phenotypic features, manifestations, and severity are broad and variable. There are also variable molecular findings, including de novo mutations and mosaicism, the latter of which can influence expressivity." +606708,"Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM5 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting ({3:Elliott and Evans, 2006}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 ({183600})." +606711,"Specific language impairment (SLI) is a common developmental disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors (summary by {2:Newbury et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Specific Language Impairment\n\nMultiple loci for specific language impairment have been mapped, including SLI1 on chromosome 16q; SLI2 ({606712}) on chromosome 19q; SLI3 ({607134}) on chromosome 13q21; SLI4 ({612514}) on chromosome 7q35-36; and SLI5 ({615432}), caused by mutation in the TM4SF20 gene ({615404}) on chromosome 2q36." +606712,"For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 ({602081}).\n\nThe {2:SLI Consortium (2002)} compiled 98 families drawn from epidemiologic and clinical populations, all with probands whose standard language scores fell 1.5 standard deviations or more below the mean for their age, indicating 'specific language impairment.' The authors performed systematic genomewide quantitative trait locus (QTL) analysis of 3 language-related measures: the Clinical Evaluation of Language Fundamentals, Revised (CELF-R), receptive and expressive scales, and the nonword repetition (NWR) test. They identified 2 regions, one on chromosome 16q (SLI1; {606711}) and the other on chromosome 19q (SLI2), both of which had maximum lod scores of 3.55. Simulations suggested that, of these 2 multipoint results, the NWR linkage to 16q was the most significant. Both the clinical and epidemiologic samples showed independent evidence of linkage on both 16q and 19q, indicating that these may represent universally important loci in SLI and, thus, general risk factors for language impairment.\n\nIn a sample colected by the {1:SLI Consortium (2004)} consisting of 86 families, all with probands whose language skills were 1.5 standard deviations or more below the mean for their age, Haseman-Elston linkage analysis resulted in a maximum lod score of 2.31 on chromosome 19. The authors commented that whereas the study of {2:SLI Consortium (2002)} reported that chromosome 19 linkage appeared to be specific to the test for expressive language, the study of {1:SLI Consortium (2004)} found that all the chromosome 19 linkage came from the test evaluating the 'nonsense word' trait, in which subjects repeat nonsensical words of increasing length and complexity.\n\nSee also SLI3 ({607134}) on chromosome 13q21." +606713,"Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome.\n\nFor a discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 ({119300})." +606719,"Melanoma-pancreatic cancer syndrome is an inherited cancer predisposition syndrome in which mutation carriers have an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer (summary by {3:Harinck et al., 2012}).\n\nFor background and phenotypic information on malignant melanoma and pancreatic cancer, see {155600} and {260350}, respectively." +606721,"Lipodystrophies are rare disorders characterized by loss of body fat from various regions and predisposition to metabolic complications of insulin resistance and lipid abnormalities. FPLD7 is an autosomal dominant disorder with a highly variable phenotype. Additional features, including early-onset cataracts and later onset of spasticity of the lower limbs, have been noted in some patients (summary by {3:Garg et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see {151660}." +606744,"Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance ({1:Borglum et al., 2001}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 ({210600})." +606752,"{1:McLeod et al. (2002)} reported 2 male sibs with acute hemorrhagic leukoencephalitis occurring at age 5 months and 8 months. These cases showed the expected neuropathologic features, but were unusual in the young age of onset, rapid progression, and recurrence in male sibs. The authors hypothesized that these cases may represent a single gene disorder that produces AHL or increases the susceptibility to some viral or toxic trigger." +606764,"Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons ({15,16:Miettinen et al., 1999, 1999}).\n\nGISTs are also seen as a feature in several syndromes, e.g., neurofibromatosis-1 (NF1; {162200}) and GIST-plus syndrome ({175510})." +606766,"In spermatogenic failure-3 (SPGF3), primary infertility is associated with nonobstructive asthenozoospermia ({1:Dirami et al., 2013}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +606770,"For a discussion of the genetic heterogeneity in serum adiponectin levels, see ADIPQTL1 ({612556})." +606771,"For a discussion of the genetic heterogeneity in serum adiponectin levels, see ADIPQTL1 ({612556})." +606777,"GLUT1 deficiency syndrome-1 is a neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation. Hypoglycorrhachia (low CSF glucose, less than 40 mg/dl) and low CSF lactate are essentially diagnostic for the disorder. As more cases with GLUT1 deficiency syndrome were described, the phenotype was broadened to include individuals with ataxia and mental retardation but without seizures, individuals with dystonia and choreoathetosis, and rare individuals with absence seizures and no movement disorder. The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a spectrum of neurologic phenotypes resulting from GLUT1 deficiency. GLUT deficiency syndrome-2 ({612126}) represents the less severe end of the phenotypic spectrum and is associated with paroxysmal exercise-induced dystonia with or without seizures. Correct diagnosis of GLUT1 deficiency is important because a ketogenic diet often results in marked clinical improvement of the motor and seizure symptoms (reviews by {14:Pascual et al., 2004} and {1:Brockmann, 2009})." +606785,"The hereditary hyperbilirubinemias ({13:Wolkoff et al., 1983}) include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I, and Crigler-Najjar syndrome type II; and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome ({237500}), Rotor syndrome ({237450}), and several forms of intrahepatic cholestasis ({147480}, {211600}, {214950}, {243300}). Detailed studies show that patients with Crigler-Najjar syndrome type II have reduced activity of bilirubin glucuronosyltransferase ({7:Labrune et al., 1989}, {11:Seppen et al., 1994})." +606787,"Peripheral arterial occlusive disease (PAOD) results from atherosclerosis of large and medium peripheral arteries, as well as the aorta. Many risk factors contribute to PAOD, including smoking, diabetes, hypertension, and hyperlipidemia. PAOD often coexists with coronary artery disease and cerebrovascular disease." +606788,"Eating disorders are characterized by severe disturbances in eating behavior that typically have onset during late adolescence and early adulthood. Three major types are recognized: anorexia nervosa (AN), bulimia nervosa (BN; {607499}), and eating disorder not otherwise specified (EDNOS). AN is characterized by obsessive fear of weight gain, severely restricted eating, and low body weight. In women, AN has the highest mortality among the psychiatric disorders ({11:Sullivan, 1995}). AN is divided into 2 clinical subtypes, restricting anorexia nervosa (RAN) and binge-eating/purging anorexia nervosa (BPAN). BN can occur at any body weight and is characterized by binge-eating and compensatory weight-loss behaviors. Family studies have indicated an increased prevalence of eating disorders in relatives of probands with AN ({8:Lilenfeld et al., 1998}), and twin studies ({7:Holland et al., 1984}; {13:Wade et al., 2000}) have estimated concordance rates for monozygotic twins with AN to be 52 to 56%, whereas concordance rates for dizygotic twins with AN have been estimated to be 5 to 11% ({6:Grice et al., 2002})." +606789,"For a general phenotypic description and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 ({141749})." +606798,"Blepharospasm is a form of primary focal dystonia affecting the orbicularis oculi muscles, usually beginning in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. In severe cases, this can lead to functional blindness (summary by {2:Misbahuddin et al., 2002})." +606799,"For general background and phenotypic information on stroke, see entry {601367}." +606812,"Fumarase deficiency is a severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy (summary by {6:Kerrigan et al., 2000} and {7:Mroch et al., 2012})." +606824,"Glucose/galactose malabsorption (GGM) is a rare autosomal recessive disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Patients with GGM present with neonatal onset of severe life-threatening watery diarrhea and dehydration. If diagnosed and treated properly, patients can fully recover and show normal growth and development (summary by {13:Xin and Wang, 2011})." +606835,"Individuals with familial digital arthropathy-brachydactyly appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life and involve irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected, thus distinguishing this disorder from other TRPV4 skeletal dysplasias, the cardinal features of which include abnormalities of the spine and disproportionate short stature ({2:Lamande et al., 2011})." +606840,"Sleep bruxism is a stereotyped movement disorder characterized by grinding or clenching of the teeth during sleep ({4:American Academy of Sleep Medicine, 2005}). It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states (summary by {5:Hublin and Kaprio, 2003})." +606843,"HIGM3, first described in humans by {2:Ferrari et al. (2001)}, is characterized by hypogammaglobulinemia with normal or elevated levels of IgM.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 ({308230})." +606852,"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}." +606874,"The disorder described by {4:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}." +606875,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}." +606893,"Primary intraosseous vascular malformation (VMPI), previously called intraosseous hemangioma, is a rare malformation that usually involves the vertebral column and the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequent ({2:Vargel et al., 2002})." +606896,"For a phenotypic description and a discussion of genetic heterogeneity of susceptibility loci for dyslexia, see DYX1 ({127700})." +606943,"Usher syndrome is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa. The syndrome is both clinically and genetically heterogeneous. Of the 3 different clinical types that have been described, USH1 ({276900}), consisting of the association of profound congenital deafness, constant vestibular dysfunction, and prepubertal onset retinitis pigmentosa, is the most severe." +606952,"Oculocutaneous albinism type I is an autosomal recessive disorder characterized by absence of pigment in hair, skin, and eyes, and does not vary with race or age. Severe nystagmus, photophobia, and reduced visual acuity are common features. OCA type I is divided into 2 types: type IA, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB, characterized by reduced activity of tyrosinase.\n\nAlthough OCA caused by mutations in the TYR gene was classically known as 'tyrosinase-negative' OCA, {17:Tripathi et al. (1992)} noted that some patients with 'tyrosinase-positive' OCA may indeed have TYR mutations resulting in residual enzyme activity. These patients can be classified as having OCA1B." +606960,"Insulinoma, arising from the beta cells of the pancreatic islet, is the most common pancreatic endocrine tumor, accounting for 70% of this type. Although only about 10% of insulinomas are malignant, determination of malignancy in these tumors by histopathology is occasionally very difficult, making genetic markers that could reliably indicate malignancy very valuable. {1:Wild et al. (2001)} performed a fine deletion mapping study of chromosome 22q with 8 microsatellite markers in 15 insulinomas (4 malignant and 11 benign). Fourteen of 15 (93%) insulinomas revealed loss of heterozygosity (LOH) on chromosome 22q, whereas the shortest region of overlap implicated a deletion of approximately 700 kb at 22q12.1-q12.2, with an LOH rate of up to 57% (8 of 14). Although the EST marker A006E25 that is localized in the SNF5/INI1 gene ({601607}) on 22q11.2 revealed LOH in 50% of informative cases (7 of 14), no alterations in this gene could be identified by SSCP analysis, direct DNA sequencing, or RNA expression analysis. Remarkably, the 4 malignant tumors showed a common deleted region between markers D22S345 and D22S1144 compared with none of the 11 benign insulinomas. The authors concluded that the observed high frequency of chromosome 22q12 deletions in insulinomas is suggestive for a region compatible with harboring a tumor suppressor gene. The SNF5/INI1 gene is most likely not the candidate gene, since no alterations were identified. The distinct pattern of allelic loss identified in this chromosomal region appears to be an attractive candidate marker for further evaluation with regard to the discrimination between benign and malignant insulinomas." +606963,"Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) ({18:Silverman et al., 2002}; {2:Celedon et al., 2004})." +606972,"For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy (IGE), see {600669}." +606989,"The MPO gene encodes myeloperoxidase ({EC 1.11.1.7}), a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear (PMN) leukocytes and monocytes. In response to stimulation, MPO is activated into a transient intermediate with potent antimicrobial oxidizing abilities ({7:Goedken et al., 2007})." +606995,"For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see {266900}." +607004,"For a general phenotypic description and discussion of genetic heterogeneity of type A1 brachydactyly, see BDA1 ({112500})." +607014,"The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function.\n\nDeficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH), Scheie (MPS IS; {607016}), and Hurler-Scheie (MPS IH/S; {607015}) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression ({48:McKusick, 1972}).\n\nMPS I is more frequent than MPS II (Hunter syndrome; {309900}), which has no corneal clouding and pursues a slower course." +607015,"The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function.\n\nDeficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH; {607014}), Scheie (MPS IS; {607016}), and Hurler-Scheie (MPS IH/S) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression ({10:McKusick, 1972}).\n\n{13:Roubicek et al. (1985)} presented 5 patients with alpha-L-iduronidase deficiency and a phenotype atypical for both Hurler and Scheie syndromes. They felt that the genetic compound explanation was acceptable for some cases, but that others must represent different mutations." +607016,"The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function.\n\nDeficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH; {607014}), Hurler-Scheie (MPS IH/S; {607015}), and Scheie (MPS IS) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression ({10:McKusick, 1972})." +607017,"Autosomal dominant deafness-21 (DFNA21) is characterized by nonsyndromic progressive sensorineural hearing loss. The mean age at onset is 30.6 years, with a range from infancy to late adulthood. There is a high prevalence of this genetic form of deafness in the Dutch population (summary by {3:de Bruijn et al., 2021})." +607044,"Somites are fundamental structures within the paraxial mesoderm of the vertebrate embryo that give rise to the vertebrae and muscles of the trunk and tail. Studies of knockout mice and gene expression analyses show that the Notch pathway is crucial in establishing the reiterative pattern of somites ({2:Saga and Takeda, 2001}). A large-scale screen in zebrafish identified 5 mutants that show abnormalities in somite boundary formation ({3:van Eeden et al., 1996}). Four had essentially the same phenotype, with posterior somite defects and neuronal hyperplasia. Further work suggested that genes affected in these mutants encode components of the Notch signaling cascade. The fifth mutant, 'fused somites' (fss), showed a different phenotype characterized by complete lack of somite formation along the entire anteroposterior axis. Gene expression and phenotypic analyses in mutant embryos implicated Fss in somite formation independent of Notch signaling, suggesting a new pathway regulating somite boundary formation. {1:Nikaido et al. (2002)} showed that the fss gene encodes a T-box transcription factor that is expressed in intermediate to anterior presomitic mesoderm (PSM) and is involved in PSM maturation. This T-box transcription factor showed differences in amino acid sequences indicating that it did not belong to any other T-box cluster. The gene appeared to encode a previously unidentified T-box protein, which {1:Nikaido et al. (2002)} designated TBX24." +607085,"Myasthenia gravis (MG; see {254200}) is an autoimmune disease of the neuromuscular junction that is often found in association with other autoimmune disorders. Association studies using case-control designs, i.e., comparisons of unrelated patients and control subjects, had demonstrated an increased frequency of the extended HLA haplotype A1-B8-DR3 (8.1) in Caucasian MG patients with thymus hyperplasia, in women, and in patients with an early onset of disease ({1:Fritze et al., 1974}; {6:Vieira et al., 1993}; {3:Machens et al., 1999}). To reevaluate the association of HLA with MG in 656 patients with generalized disease, and to test linkage of HLA to MG with thymus hyperplasia, {2:Giraud et al. (2001)} studied transmission of parental alleles to MG offspring with thymus hyperplasia in simplex (single-case) families using the transmission/disequilibrium test (TDT) as a test of linkage. Their results indicated linkage of HLA to MG with thymus hyperplasia, defining a locus on chromosome 6p21.3 that they designated MYAS1. They found that DR3 and DR7, or closely linked genes, had opposing effects on MG phenotypes. MG with thymus hyperplasia was positively associated with DR3 and negatively associated with DR7, based on both case-control comparisons and TDT. Conversely, patients who lacked thymus anomalies but expressed antibodies against titin ({188840}) had an increase of DR7 and a decrease of DR3.\n\nThe 8.1 haplotype of the major histocompatibility complex (MHC) associates not only with the HLA DR3, B8, and A1 antigens but also alleles of many other HLA loci and extends over 3 Mb stably across generations in Caucasians. This haplotype is associated with highly prevalent autoimmune diseases ({4:Price et al., 1999}). {5:Vandiedonck et al. (2004)} localized the MYAS1 gene to a 1.2-Mb genome segment by reconstructing haplotypes and assessing their transmission in 73 simplex families. This segment encompasses the class III and proximal class I regions, between the BAT3 ({142590}) and C3-2-11 markers, thereby unambiguously excluding the class II loci. In addition, a case-control study revealed a very strong association with a core haplotype in this same region following an additive model; odds ratio was 6.5 for 1 copy and 42 for 2 copies of the core haplotype. {5:Vandiedonck et al. (2004)} showed that this region is associated with a marked increase in serum titers of antiacetylcholine receptor autoantibodies. This effect was suppressed by a second locus in cis on the 8.1 haplotype and located toward the class II region. {5:Vandiedonck et al. (2004)} concluded that these data demonstrated the highly significant but complex effects of the 8.1 haplotype on the phenotype of myasthenia gravis patients." +607086,"Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm ({100070}) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes.\n\nMedial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome ({154700}), and vascular (type IV) Ehlers-Danlos syndrome ({130050}). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome.\n\n<Subhead> Genetic Heterogeneity of Thoracic Aortic Aneurysm\n\nLoci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2; {607087}). Mutation in the MYH11 gene ({160745}) on chromosome 16p causes AAT4 ({132900}). Mutation in the ACTA2 gene ({102620}) on chromosome 10q causes AAT6 ({611788}). Mutation in the MYLK gene ({600922}) on chromosome 3q21 causes AAT7 ({613780}). Mutation in the PRKG1 gene ({176894}) on chromosome 10q11 causes AAT8 ({615436}). Mutation in the MFAP5 gene ({601103}) on chromosome 12p13 causes AAT9 ({616166}). Mutation in the LOX gene ({153455}) on chromosome 5q23 causes AAT10 ({617168}). Mutation in the FOXE3 gene ({601094}) on chromosome 1p33 causes susceptibility to AAT11 ({617349}).\n\nThoracic aortic aneurysm with dissection (e.g., AAT3 and AAT5) can occur as a manifestation of the Loeys-Dietz syndrome (see LDS2, {610168} and LDS1, {609192}, caused by mutation in the TGFBR2 ({190182}) and TGFBR1 ({190181}) genes, respectively).\n\n<Subhead> Reviews\n\n{20:Pyeritz (2014)} reviewed heritable thoracic aortic disorders with particular attention to causative genes, including components of the extracellular matrix, vascular smooth muscle cytoskeleton, and TGF-beta and other signaling pathways." +607087,"For a phenotypic description and a discussion of genetic heterogeneity of familial thoracic aortic aneurysm, see {607086}." +607088,"Distal spinal muscular atrophy (DSMA), also known as distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement. For a general phenotypic description and a discussion of genetic heterogeneity of distal SMA, see HMN1 ({182960}).\n\n{1:Harding (1993)} classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3). Both have juvenile onset and differ only by less severe involvement in HMN3. However, {5:Viollet et al. (2004)} reported an extended Lebanese kindred in which both HMN III and HMN IV occurred, suggesting that the same gene was involved in both phenotypes (see {2:Irobi et al., 2006})." +607091,"Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders that are commonly associated with severe psychomotor and mental retardation. The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans (summary by {1:Hansske et al., 2002}).\n\nFor a general discussion of CDGs, see CDG1A ({212065})." +607093,"Methylenetetrahydrofolate reductase ({EC 1.5.1.20}) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine." +607095,"Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by {3:Thiel et al., 2005}).\n\nMutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH; {250250}) and metaphyseal dysplasia without hypotrichosis ({250460}).\n\n<Subhead> Genetic Heterogeneity of Anauxetic Dysplasia\n\nAnauxetic dysplasia-2 (ANXD2; {617396}) is caused by mutation in the POP1 gene ({602486}) on chromosome 8q22. ANXD3 ({618853}) is caused by mutation in the NEPRO gene ({617089}) on chromosome 3q13." +607098,ENO1B is an isoform of the glycolytic enzyme enolase (2-phospho-D-glycerate hydrolase; {EC 4.2.1.11}). It is a member of the alpha family of enolases which show widespread tissue distribution and expression in the early stages of embryonic development. +607107,"Nasopharyngeal carcinoma (NPC, NPCA) is a multifactorial malignancy associated with both genetic and environmental factors. The cancer arises from the epithelium of the nasopharynx. The Epstein-Barr virus has been implicated ({12:Tse et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Nasopharyngeal Carcinoma\n\nNPCA1 maps to chromosome 4p. NPCA2 ({161550}) maps to chromosome 6p21. NPCA3 ({617075}) is associated with variation in the MST1R gene ({600168}) on chromosome 3p21.\n\nSomatic mutations have been found in the TP53 gene ({191170}) in nasopharyngeal carcinoma tumors." +607115,"Chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central nervous system involvement, and arthropathy ({3:Feldmann et al., 2002}).\n\nSee also familial cold autoinflammatory syndrome-1 (FCAS1, CAPS1; {120100}), an allelic disorder with a less severe phenotype." +607116,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}." +607131,"Al-Gazali-Bakalinova syndrome (AGBK) is characterized by multiple epiphyseal dysplasia, macrocephaly, and distinctive facial features including frontal bossing, hypertelorism, flat malar regions, low-set ears, and short neck. Other features include pectus excavatum, spindle-shaped fingers, clinodactyly, prominent joints, and genu valgum (summary by {2:Ali et al., 2012})." +607134,"For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 ({602081}).\n\nChildren who fail to develop language normally--in the absence of explanatory factors such as neurologic disorders, hearing impairment, or lack of adequate opportunity--are clinically described as having specific language impairment.\n\n{2:Bartlett et al. (2002)} conducted a genomewide categorical linkage analysis, using model-based lod score techniques, in 5 Canadian families of Celtic ancestry that segregated SLI. Analysis was conducted under both dominant and recessive models by use of 3 phenotypic classifications: clinical diagnosis, language impairment (spoken language quotient less than 85) and reading discrepancy (nonverbal IQ minus nonword reading greater than 15). Chromosome 13 yielded a maximum multipoint lod score of 3.92 under the recessive reading discrepancy model. Stimulation to correct for multiple models and multiple phenotypes indicated that the genomewide empirical P value was less than 0.01. As an alternative measure, they also computed the posterior probability of linkage (PPL), obtaining a PPL of 53% in the same region. Another genomic region yielded suggestive results on chromosome 2 (multipoint lod score 2.86). The findings underscored the utility of traditional lod-score-based methods in finding genes for complex diseases.\n\n{1:Bartlett et al. (2004)} found linkage to the SLI3 region on chromosome 13q21 in a study of 22 U.S. families with at least 2 members affected with SLI. Under the recessive reading impairment model, a maximum lod score of 2.616 was obtained at D13S1317. Combining the results of the U.S. sample with the results reported by {2:Bartlett et al. (2002)} for the Canadian sample yielded a maximum lod score of 6.181 at the same marker. Haplotype analysis defined a 7-cM region on chromosome 13q21." +607135,"{1:DeWan et al. (2001)} reported suggestive, but not statistically significant, results of a genomewide quantitative linkage analysis for creatinine clearance (CRCL), a common measure of renal function. The strongest signals were in regions on chromosomes 1, 3, and 6 in whites and in 2 regions on chromosome 3 in African Americans. The samples studied included every genotyped family from the first half of the HyperGEN study sample (an investigation of hypertension, funded by NHLBI of the NIH), a total of 215 African American sibships and 265 white sibships. {2:DeWan et al. (2002)} repeated the analysis when the remaining sibships were genotyped. In the complete sample, they found significant linkage in African Americans between CRCL and chromosome 3p (lod score of 4.66 at 66 cM). To narrow the region, they added 11 linkage markers between 49 cM and 86 cM, and found that the highest multipoint lod score increased from 4.31 at 67 cM to 4.57 at 66 cM in the complete African American sample." +607136,"SCA17 is a neurologic disorder characterized by cerebellar ataxia, pyramidal and extrapyramidal signs, cognitive impairment, psychosis, and seizures. Most patients have onset of symptoms after age 30, although earlier onset has been reported. The clinical phenotype and inheritance pattern are similar to Huntington disease (HD; {143100}) ({7:Gao et al., 2008}).\n\nSCA17 shows a complex pattern of inheritance, including autosomal dominant, autosomal dominant with incomplete penetrance, and digenic (see MOLECULAR GENETICS) depending on the size of the TBP repeat expansion. Unaffected individuals have between 25 and 41 CAG/CAA repeats in the TBP gene. Alleles with 47 or more CAG/CAA repeats are fully penetrant for SCA17. Alleles with 'intermediate expansions' between 41 and 46 repeats show incomplete penetrance. However, patients with intermediate TBP expanded alleles in combination with heterozygous mutations in the STUB1 gene ({607207}) demonstrate full penetrance of the disease, suggesting that intermediate SCA17 is actually a digenic disease and may represent the same entity as SCA48 ({618093}), which has a similar phenotype ({17:Magri et al., 2022}). Rarely, SCA17 has been found to be caused by homozygous or compound heterozygous TBP repeat expansions, consistent with autosomal recessive inheritance.\n\nFor a general discussion of autosomal dominant of spinocerebellar ataxia, see SCA1 ({164400})." +607143,"Congenital disorders of glycosylation (CDG), previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are a group of hereditary multisystem disorders first recognized by {3:Jaeken et al. (1980)}. The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans.\n\nCDG1G is a multisystem disorder characterized by impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities, and immune deficiency. More variable features include skeletal dysplasia, cardiac anomalies, ocular abnormalities, and sensorineural hearing loss. Some patients die in the early neonatal or infantile period, whereas others are mildly affected and live to adulthood (summary by {6:Tahata et al., 2019}).\n\nFor a general discussion of CDGs, see CDG1A ({212065})." +607151,"Moyamoya disease is a progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage (summary by {1:Kamada et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350})." +607152,"For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600})." +607155,"MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no structural brain changes ({2:Brockington et al., 2001}). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({12:Mercuri et al., 2006}).\n\nFor a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 ({609308})." +607174,"Meningiomas are, in general, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. The vast majority of meningiomas are sporadic; familial occurrence of meningioma is rare ({58:Zang, 2001}).\n\nFamilial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis ({162091}), caused by mutation in the SMARCB1 gene, may develop meningiomas. One patient with malignant gliomas (GLM2; {613028}) associated with a mutation in the PTEN gene ({601728}) developed a meningioma ({51:Staal et al., 2002})." +607196,"Amish-type microcephaly is a severe autosomal recessive metabolic disorder characterized by severe microcephaly apparent at birth, profoundly delayed psychomotor development, brain malformations, and episodic encephalopathy associated with lactic acidosis and alpha-ketoglutaric aciduria (summary by {1:Kelley et al., 2002}).\n\nFor a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 ({249270})." +607197,"{2:Liu et al. (2001)} screened 26 African American probands with congenital deafness (21 from simplex and 5 from multiplex families) for mutations in connexins 26, 30, and 31 and found no mutations. The affected individuals exhibited profound bilateral congenital deafness. Individuals demonstrated audiograms consistent with sensorineural deafness, the most common pattern in nonsyndromic recessive deafness ({1:Liu and Xu, 1994}), and did not exhibit any craniofacial abnormalities or history of vestibular dysfunction. Although {2:Liu et al. (2001)} reported that they had identified 2 homozygous mutations (leu11 to phe and val24 to ala) in the connexin-43 gene (GJA1; {121014}) in 4 of the 26 African American probands, {3:Paznekas et al. (2003)} cited a personal communication from the senior author of the report by {2:Liu et al. (2001)} stating that the 2 mutations had been found to involve the pseudogene of connexin-43 located on chromosome 5." +607202,"Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by {1:Farrell and Kelly, 2002}).\n\nFor additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}." +607208,"Dravet syndrome, first described by {9:Dravet (1978)}, is a clinical term for a severe neurologic disorder characterized by the onset of seizures in the first year of life after normal early development. Affected individuals usually present with generalized tonic, clonic, and tonic-clonic seizures that may initially be induced by fever and are usually refractory to treatment. Later, patients tend to manifest other seizure types, including absence, myoclonic, and partial seizures. The EEG is often normal at first, but later characteristically shows generalized spike-wave activity and other abnormalities. Psychomotor development stagnates around the second year of life, and affected individuals show subsequent mental decline, behavioral problems, and learning disabilities (summary by {8:Dravet et al., 1992}; {33:Sugawara et al., 2002}; {16:Harkin et al., 2007}; {29:Shbarou and Mikati, 2016}). 'Severe myoclonic epilepsy of infancy' (SMEI) and 'migrating partial seizures of infancy' (MPSI) are other clinical manifestations of Dravet syndrome (summary by {24:Ohmori et al., 2002}; {1:Carranza Rojo et al., 2011}; {7:Dravet et al., 2011}).\n\nAlthough most cases of Dravet syndrome are caused by mutation in the SCN1A gene, there are other developmental and epileptic encephalopathies (DEEs) with clinical features similar to Dravet syndrome that are caused by mutations in other genes (summary by {32:Steel et al., 2017}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +607214,"{1:Teebi and Kaurah (1996)} described 3 Iranian sibs (2 boys and a girl), born of first-cousin parents, with the association of microcephaly (with normal intelligence), total anonychia, and transverse palmar creases. The same abnormalities were reportedly found in the proband's cousin; her parents were also consanguineous. {1:Teebi and Kaurah (1996)} proposed that this complex is a distinct autosomal recessive syndrome." +607225,"Infantile-onset ascending spastic paralysis is an autosomal recessive neurodegenerative disorder characterized by onset in the first years of life of progressive upper and lower motor neuron degeneration resulting in loss of ability to walk in childhood. It initially affects the lower limbs and then ascends to the upper limbs and bulbar muscles, causing dysarthria and dysphagia. Cognition is unaffected (summary by {8:Wakil et al., 2014})." +607248,"For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 ({137800})." +607250,"Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is an autosomal recessive neurologic disorder characterized by onset of gait disturbances in the first or second decades of life. Affected individuals have cerebellar ataxia associated with cerebellar atrophy on brain imaging, as well as an axonal sensorimotor neuropathy with distal sensory impairment, hypo- or areflexia, pes cavus, and steppage gait (summary by {2:Takashima et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Spinocerebellar Ataxia with Axonal Neuropathy\n\nSee also SCAN2 ({606002}), caused by mutation in the SETX gene ({608465}) on chromosome 9q34, and SCAN3 ({618387}), caused by mutation in the COA7 gene ({615623}) on chromosome 1p32." +607258,"For a phenotypic description and a discussion of genetic heterogeneity of absorptive hypercalciuria, see {143870}.\n\n{2:Imamura et al. (1998)} reported the cases of 2 unrelated girls with multiple malformations, each of whom had an unbalanced translocation chromosome with deletion of the 4q33-qter segment and addition of a segment from another unidentified chromosome. One of the 2 girls had asymptomatic kidney stones. Both had excess urinary calcium excretion, exaggerated excretion on oral calcium load, and reduced but excessive excretion on restricted calcium intake. The urinary calcium excretion of their parents was normal. Both girls were thus diagnosed to have sporadic absorptive hypercalciuria. {2:Imamura et al. (1998)} suggested that the 4q33-qter segment contains the putative gene for absorptive hypercalciuria.\n\n{3:Townes et al. (1979)} recognized deletion of the terminal region of the long arm of chromosome 4 as a distinct syndrome. The syndrome comprises minor facial anomalies, cleft palate, limb and digital abnormalities (especially of the fifth finger), congenital heart defects, postnatal growth deficiency, and developmental delay. {1:Giuffre et al. (2004)} described a newborn girl with a de novo terminal 4q deletion (4q31.3-qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal growth deficiency. Excessive urinary calcium excretion on standard milk formula and on oral calcium load was found. At 2 months of age, ultrasound showed kidney calcifications. Clinical and laboratory data supported the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium-sensing receptors in the renal tubules. The findings supported the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of 4q." +607259,"Hereditary spastic paraplegia (SPG) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. There is considerable genetic heterogeneity. Inheritance is most often autosomal dominant (see {182600}), but X-linked (see {312920}) and autosomal recessive (see {270800}) forms occur.\n\nSPG7 shows phenotypic variability between families. Some cases are pure, whereas other are complicated with additional neurologic features ({7:Warnecke et al., 2007})." +607271,"Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation of 'double-negative T cells' (DNT; T-cell receptor alpha/beta+, CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation, with recurrent bacterial and viral infections (summary by {2:Madkaikar et al., 2011})." +607277,"Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis ({3:Laitinen et al., 2001}; {2:Illig and Wjst, 2002}; {7:Pillai et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}." +607278,"Osteofibrous dysplasia (OSFD) is a tumor-like bone lesion that usually presents as a painless swelling or anterior bowing of the tibia ({7:Park et al., 1993}), although pain may occur in up to 25% of cases and presentation may follow pathologic fracture. Most reports of osteofibrous dysplasia describe isolated tibial lesions, although a significant subgroup describe isolated and ipsilateral fibular involvement. Cases with ulnar and radial involvement have been reported (summary by {5:Hunter and Jarvis, 2002}).\n\nOSFD is characterized by radiolucent lesions located at the periosteal surface of the diaphyseal cortex, almost exclusively of the tibia and fibula. These lesions are congenital and spontaneously resolve during skeletal maturation; the residuum is most commonly mild bowing at the affected site. Prior to their resolution, secondary complications such as nonunion fractures and pseudoarthrosis formation can occur. Histologically, OSFD lesions exhibit 'zonal architecture' characterized by spindle-shaped fibroblast-like cells in the center of the lesions that are progressively replaced with peripherally located, more differentiated cells from the osteoblastic lineage. The cells lying at the center of the lesions stain for markers of undifferentiated mesenchymal cell states, whereas bridging zones of osteoid with surface osteoblasts and embedded osteocytic cells are interspersed between the lesions. In OSFD, the unossified zones eventually mineralize after replacement with normal osteoid and, finally, bone. This histologic progression corresponds with the clinical and radiographic resolution of the lesions (summary by {4:Gray et al., 2015}).\n\n{5:Hunter and Jarvis (2002)} noted that there may be a relationship between osteofibrous dysplasia and adamantinoma of long bones ({102660}), although the latter condition usually presents at a later age." +607279,"Hemolytic anemia is a forme fruste of systemic lupus erythematosus (SLE; {152700}), being observed months or even years before the onset of other clinical manifestations in some patients. {1:Kelly et al. (2002)} hypothesized that hemolytic anemia in those SLE-affected patients would identify a group of SLE pedigrees that share a high degree of genetic homogeneity. From 160 multiplex SLE pedigrees, they sought evidence for linkage in 35 (16 African American, 17 European-American, and 2 Hispanic) who had at least 1 SLE-affected patient with hemolytic anemia. Significant linkage was present at chromosome 11q14 in the 16 African American pedigrees, yielding a maximum 2-point lod score of 4.5 at D11S2002. The segregation pattern of SLE in these African American pedigrees suggested a dominant mode of inheritance and, when maximized across penetrance and disease allele frequencies, produced a multipoint lod score of 4.7. Multipoint analysis yielded a multipoint heterogeneity lod score of 3.6, again with maximum lod at D11S2002. Finally, markers typed 7 cM to either side of D11S2002 achieved lod scores of 3 or better using the maximized model, supporting linkage of an SLE susceptibility gene, SLEH1, to 11q14. The authors concluded that pedigree ascertainment based on select clinical manifestations is an important tool, capable of revealing otherwise cryptic genetic linkages in complex genetic diseases." +607313,"HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal (summary by {1:Bosley et al., 2005}).\n\n<Subhead> Genetic Heterogeneity of Familial Horizontal Gaze Palsy With Progressive Scoliosis\n\nSee also HGPPS2 ({617542}), caused by mutation in the DCC gene ({120470}) on chromosome 18q21." +607317,"SCAR4 is an autosomal recessive neurologic disorder characterized by abnormal movements. Most patients have ataxic gait with spasticity and hyperreflexia of the lower limbs resulting in difficulty walking. The age at onset is highly variable: some have onset in early childhood with delayed walking, whereas others have onset of gait difficulties in adulthood. Additional features may include dysarthria, oculomotor abnormalities, distal sensory impairment, dystonia, chorea, hypotonia, pyramidal signs, and cerebellar atrophy on brain imaging. The disorder is slowly progressive. Some patients with onset in childhood may have global developmental delay with mild intellectual disability (summary by {3:Seong et al., 2018})." +607323,"Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.' The ocular anomalies usually include Duane anomaly (see {126800}), but this finding may be absent in some patients ({13:Kohlhase et al., 2003}). Similarly, renal anomalies are not always seen and may not have been investigated, particularly in cases reported before routine renal imaging ({1:Aalfs et al., 1996}). Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.\n\nThe Holt-Oram syndrome ({142900}), caused by mutation in the TBX5 gene ({601620}) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects ({14:Kohlhase, 2003})." +607324,"For a phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}." +607326,"Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease. Spinal cord compression due to atlantoaxial instability occurs in both SMC and DMC ({6:Spranger et al., 1976}; {3:Nakamura et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Smith-McCort Dysplasia\n\nSmith-McCort dysplasia-2 (SMC2; {615222}) is caused by mutation in the RAB33B gene ({605950}) on chromosome 4q31." +607330,"Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency (summary by {7:Rossi et al., 2007})." +607339,"Coronary heart disease is a complex multifactorial disorder for which several loci have been identified: CHDS1, mapped to 16pter-p13; CHDS2 ({608316}), mapped to 2q21.1-q22; CHDS3 ({300464}), mapped to Xq23-q26; CHDS4 ({608318}), mapped to 14q32; CHDS5 ({608901}), mapped to 3q13; CHDS8 ({611139}), mapped to 9p21; and CHDS9 ({612030}) mapped to 8p22.\n\nCHDS6 ({614466}) is associated with a polymorphism in the promoter region of the MMP3 gene ({185250}); and CHDS7 ({610938}) represents susceptibility correlated with a common haplotype in the CD36 gene ({173510}) and high free fatty acid levels." +607341,"Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB ({6:Palmini et al., 2004}). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by {4:Moller et al., 2016})." +607354,"Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method ({2:Weinstein, 1994}).\n\nFor a discussion of genetic heterogeneity of isolated scoliosis, see {181800}." +607361,"Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by {7:Smith et al., 2006}).\n\nFor a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 ({249000})." +607364,"Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed ({32:Simon et al., 1997}).\n\nPatients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by {33:Simon et al., 1996} and {11:Fremont and Chan, 2012}).\n\n<Subhead> Genetic Heterogeneity of Bartter Syndrome\n\nAntenatal Bartter syndrome type 1 ({601678}) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1; {600839}). Antenatal Bartter syndrome type 2 ({241200}) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1; {600359}). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A ({602522}), is caused by mutation in the BSND gene ({606412}). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B ({613090}), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.\n\nAlso see autosomal dominant hypocalcemia-1 with Bartter syndrome ({601198}), which is sometimes referred to as Bartter syndrome type 5 ({11:Fremont and Chan, 2012}), caused by mutation in the CASR gene ({601199}).\n\nSee Gitelman syndrome (GTLMN; {263800}), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 ({600968})." +607373,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior ({2:Bailey et al., 1996}; {4:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({3:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({5:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +607395,"Since the early 1980s, a resurgence of severe, invasive infections by group A streptococci (GAS; Streptococcus pyogenes) has occurred. The reemergence of streptococcal toxic shock syndrome (STSS) and necrotizing fasciitis (NF) has been reported in several countries. Both are rapidly progressive invasive diseases that are associated with high mortality rate, ranging from 30 to 80% despite prompt antibiotic therapy and debridement. A particular subclone of the M1 serotype (M1T1) has persisted for more than 20 years as the most prevalent strain isolated from these infections. Release of inflammatory cytokines triggered by streptococcal superantigens has a pivotal role in invasive streptococcal disease. However, individuals infected with the same strain can develop different manifestations. {1:Kotb et al. (2002)} reported that the immunogenetics of the host influence the outcome of invasive streptococcal infection. They found that specific human leukocyte antigen (HLA) class II haplotypes conferred strong protection from severe systemic disease, whereas others increased the risk of severe disease. Patients with the DRB1*1501 ({142857})/DQB1*0602 ({604305}) haplotype mounted significantly reduced responses and were less likely to develop severe systemic disease. {1:Kotb et al. (2002)} proposed that class II HLA allelic variation contributes to differences in the severity of invasive streptococcal infections through the ability of distinct HLA alleles/haplotypes to regulate cytokine responses triggered by streptococcal superantigens." +607398,"Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood (summary by {1:Metherell et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200})." +607411,"Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. ({4:Mitchell et al., 1971}). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis ({7:Ramsay et al., 1987}). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases ({6:Polani and Campbell, 1960}; {2:Lamy et al., 1957}), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor ({5:Nguyen et al., 1997}) and by rare syndromic forms of PDA such as Char syndrome ({169100}), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B ({601601}) ({3:Mani et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Patent Ductus Arteriosus\n\nAutosomal dominant forms of patent ductus arteriosus include PDA2 ({617035}), caused by mutation in the TFAP2B gene ({601601}) on chromosome 6p12, and PDA3 ({617039}), caused by mutation in the PRDM6 gene ({616982}) on chromosome 5q23.\n\n{1:Hajj and Dagle (2012)} reviewed the genetics of patent ductus arteriosus in both term and preterm infants, and discussed possible environmental risk factors as well as animal models of PDA." +607413,"No asterisk is used with this entry because the validity of the AD7CNTP sequence has been questioned ({4:Scott, 2013})." +607426,"Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by {10:Quinzii and Hirano, 2011}). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain ({4:Duncan et al., 2009}).\n\nThe disorder has been associated with 4 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia ({9:Ogasahara et al., 1989}); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure ({14:Rotig et al., 2000}); a predominantly cerebellar form with ataxia and cerebellar atrophy ({6:Lamperti et al., 2003}); and Leigh syndrome with growth retardation ({17:van Maldergem et al., 2002}). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment.\n\n<Subhead> Genetic Heterogeneity of Primary Coenzyme Q10 Deficiency\n\nSee also COQ10D2 ({614651}), caused by mutation in the PDSS1 gene ({607429}) on chromosome 10p12; COQ10D3 ({614652}), caused by mutation in the PDSS2 gene ({610564}) on chromosome 6q21; COQ10D4 ({612016}), caused by mutation in the COQ8 gene (ADCK3; {606980}) on chromosome 1q42; COQ10D5 ({614654}), caused by mutation in the COQ9 gene ({612837}) on chromosome 16q21; COQ10D6 ({614650}), caused by mutation in the COQ6 gene ({614647}) on chromosome 14q24; COQ10D7 ({616276}), caused by mutation in the COQ4 gene ({612898}) on chromosome 9q34; COQ10D8 ({616733}), caused by mutation in the COQ7 gene ({601683}) on chromosome 16p13; and COQ10D9 ({619028}), caused by mutation in the COQ5 gene ({616359}) on chromosome 12q24.\n\nSecondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD; {231680}), caused by mutation in the ETFDH gene ({231675}) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1; {208920}), caused by mutation in the APTX gene ({606350}) on chromosome 9p13." +607432,"Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations ({16:Pilz et al., 1999}, summary by {12:Kato and Dobyns, 2003}). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology ({1:Bordarier et al., 1986}). With this technical advantage, a number of lissencephaly syndromes have been distinguished.\n\nClassic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum ({14:Lo Nigro et al., 1997}).\n\n{12:Kato and Dobyns (2003)} presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 (PAFAH1B1), 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX.\n\n<Subhead> Genetic Heterogeneity of Lissencephaly\n\nLissencephaly is a genetically heterogeneous disorder. See also LIS2 ({257320}), caused by mutation in the RELN gene ({600514}) on chromosome 7q22; LIS3 ({611603}), caused by mutation in the TUBA1A gene ({602529}) on chromosome 12q13; LIS4 ({614019}), caused by mutation in the NDE1 gene ({609449}) on chromosome 16p13; LIS5 ({615191}), caused by mutation in the LAMB1 gene ({150240}) on chromosome 7q31; LIS6 ({616212}), caused by mutation in the KATNB1 gene ({602703}) on chromosome 16q21; LIS7 ({616342}), caused by mutation in the CDK5 gene ({123831}) on chromosome 7q36; LIS8 ({617255}), caused by mutation in the TMTC3 gene ({617218}) on chromosome 12q21; LIS9 ({618325}), caused by mutation in the MACF1 gene ({608271}) on chromosome 1p34; and LIS10 ({618873}), caused by mutation in the CEP85L gene ({618865}) on chromosome 6q22.\n\nX-linked forms include LISX1 ({300067}), caused by mutation in the DCX gene ({300121}) on chromosome Xq23, and LISX2 ({300215}), caused by mutation in the ARX gene ({300382}) on chromosome Xp21.\n\nSee also Miller-Dieker lissencephaly syndrome (MDLS; {247200}), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE ({605066}) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS." +607450,"ARVD8 is characterized by progressive degeneration of the right ventricular myocardium. Patients may experience life-threatening cardiac arrhythmias and show depolarization, conduction, and repolarization defects on electrocardiography ({2:Rampazzo et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of ARVD, see {107970}." +607454,"Spinocerebellar ataxia-21 (SCA21) is an autosomal dominant neurologic disorder characterized by onset in the first decades of life of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients (summary by {1:Delplanque et al., 2014}).\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +607458,"For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +607459,"SANDO is an autosomal recessive systemic disorder characterized mainly by adult onset of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) resulting from mitochondrial dysfunction and associated with mtDNA depletion in skeletal muscle and peripheral nerve tissue ({2:Fadic et al., 1997}). The phenotype varies widely, even within the same family, and can include myopathy, seizures, and hearing loss, but the common clinical feature appears to be sensory ataxia (review by {6:Milone and Massie, 2010}).\n\nSpinocerebellar ataxia with epilepsy (SCAE) is a similar disorder with a higher frequency of migraine headaches and seizures ({13:Winterthun et al., 2005})." +607464,"Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms ({4:Sanders and Silverman, 1998}).\n\nHurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm ({2:Maximo et al., 2005})." +607473,"Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome ({1:Fregin et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of combined deficiency of vitamin K-dependent clotting factors, see VKCFD1 ({277450})." +607483,"Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by {1:Debs et al., 2010}).\n\nFor a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 ({249270})." +607485,"FTLD-TDP is clinically characterized by frontotemporal dementia (see FTD; {600274}), which shows variable phenotypic expression but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) ({20:Huey et al., 2006}; {33:Mukherjee et al., 2006}; {30:Mesulam et al., 2007}). Some patients may present with a clinical diagnosis of Alzheimer disease (AD; {104300}) or Parkinson disease (PD; {168600}), which are part of the phenotypic spectrum of this disorder ({5:Brouwers et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of FTLD-TDP\n\nThe specific presence of TDP43 (TARDBP; {605078})-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by {45:Van Deerlin et al., 2010}).\n\nTDP43-positive inclusions also occur in ALS10 ({612069}), caused by mutation in the TARDBP gene ({605078}); IBMPFD ({167320}), caused by mutation in the VCP gene ({601023}); and FTDALS ({105550}), caused by mutation in the C9ORF72 gene ({614260}).\n\n{28:Mackenzie and Rademakers (2007)} provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. {6:Cairns and Ghoshal (2010)} reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP." +607498,"For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 ({157300})." +607499,"Bulimia nervosa (BN) is a psychiatric disorder characterized by episodes of binge-eating (eating an unusually large amount of food in a discrete period of time and feeling out of control), compensatory behavior (e.g., self-induced vomiting or laxative abuse), and over-concern with weight and shape.\n\nEating disorders such as bulimia nervosa are complex disorders that can be influenced by many genes." +607501,"For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 ({157300}).\n\nMigraine is a complex and heterogeneous disorder characterized by recurrent attacks of headache associated with autonomic and neurologic symptoms. Two primary types of migraine can be distinguished: migraine without aura (MO) and migraine with aura.\n\n{1:Soragna et al. (2003)} studied a large 4-generation Italian family, originating from a restricted geographic area of northern Italy, in which migraine without aura appeared to segregate as an autosomal dominant trait. They excluded association between MO in this family and previously identified migraine loci, including the migraine with aura susceptibility locus on chromosome 4q24 ({157300}). Using a genomewide scan, they obtained significant evidence of linkage between the MO phenotype and marker D14S978 on 14q22.1 (maximum 2-point lod score of 3.70 at a recombination fraction of 0.01). Multipoint parametric analysis (maximum lod score of 5.25 between markers D14S976 and D14S978) and haplotype construction showed strong evidence of linkage in a 10-cM region flanked by markers D14S1027 and D14S980 on 14q21.2-q22.3." +607504,"The {2:International Headache Society (1988)} classifies headache associated with sexual activity (HSA) as an idiopathic headache under 'miscellaneous headaches unassociated with structural lesions.' Based on initial descriptions, 3 subtypes are differentiated: type 1 is a dull ache in the head and neck that slowly intensifies as sexual excitement increases, and is believed to be caused by muscle contraction similar to tension-type headache; type 2, also called 'vascular-type,' is a sudden severe, explosive headache occurring at orgasm, which may be due to increased intracranial pressure; type 3, the most uncommon type, is a postural headache resembling that caused by decreased CSF pressure, perhaps due to a meningeal tear during coitus (summary by {1:Frese et al., 2003})." +607507,"Psoriasis ({177900}) is a chronic inflammatory skin disease that may have an autoimmune basis. The disorder has a strong but complex genetic basis, with a concordance rate of 50 to 70% among monozygotic twins. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement ({5:Gudjonsson et al., 2002})." +607508,"For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 ({157300})." +607516,"For a phenotypic description and a discussion of genetic heterogeneity of migraine with or without aura, see MGR1 ({157300}).\n\nFor a phenotypic description and discussion of genetic heterogeneity of familial hemiplegic migraine, see FHM1 ({141500})." +607523,"This form of isolated toenail dystrophy has been found to segregate as an autosomal dominant trait in families in which another member has the autosomal recessive skin disorder dystrophic epidermolysis bullosa ({226600}) or transient bullous dermolysis of the newborn ({131705}), the features of which include dystrophic nails. The nail changes in isolated toenail dystrophy are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge (summary by {3:Sato-Matsumura et al., 2002}). This form of toenail dystrophy is referred to here as nonsyndromic congenital nail disorder-8 (NDNC8).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050})." +607540,"{1:Levy et al. (2003)} described 3 sibs, a boy and 2 girls, with congenital myopathy, bullous eruption of the skin, secretory diarrhea, apparent zinc deficiency, failure to thrive, deafness, and microcephaly. The joint contractures resolved with age. Cryptorchidism was present in the male, and congenital heart disease was present in 1 of the 3 sibs. Myopathy improved with age and the blistering disappeared in the neonatal period without recurrence. The parents, of Italian ancestry, were not consanguineous and there were no other affected relatives. The disorder was thought to be autosomal recessive.\n\nThe syndrome in the sibs reported by {1:Levy et al. (2003)} appeared to be distinct from known syndromes of secretory diarrhea, myopathy, deafness, microcephaly, and zinc deficiency. Linkage analysis performed on DNA from the patients and their parents showed no linkage to markers on chromosome 12p12 flanking the GUCY2C gene ({601330}), which is a candidate gene for secretory diarrhea; to markers on chromosome 7q22-q31.1 flanking the DRA gene ({126650}), which is mutated in a form of secretory diarrhea ({214700}); or to markers on chromosome 15q22-qter flanking the MPI gene ({154550}), which is mutated in type Ib carbohydrate-deficient glycoprotein syndrome ({602579}). Because of the association of myopathy and blistering skin lesions in the sibs they reported, {1:Levy et al. (2003)} considered a recessive form of congenital muscular dystrophy in epidermolysis bullosa simplex ({226670}), which is caused by mutations in the PLEC1 gene (PLEC1; {601282}). They excluded this disorder because of lack of histopathologic evidence for epidermolysis bullosa and the absence of PLEC1 gene mutations in 1 of the patients. Moreover, secretory diarrhea had not been reported in the epidermolysis bullosa-muscular dystrophy syndrome, and the myopathy in the patients reported by {1:Levy et al. (2003)} tended to improve with age rather than progress, as in epidermolysis bullosa-muscular dystrophy." +607554,"Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({3:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}." +607565,"{1:Hedera et al. (2002)} reported a kindred in which 6 members over 3 generations were affected with a dominantly inherited neurologic disorder manifesting either as uncomplicated spastic paraplegia with or without ataxia or spastic paraplegia, ataxia, and mental retardation. The clinical phenotype was strikingly variable, both between and within generations. Two patients in the first 2 generations, a female and a male, had pure spastic paraplegia characterized by lower limb spasticity, extensor plantar responses, bladder dysfunction, and reduced sensation in the lower extremities. Two patients in the second and third generations, both female, had an ataxia-spasticity phenotype characterized by ataxia, dysarthria, abnormal extraocular movements, and mild dystonia in addition to the symptoms of pure spastic paraplegia. Two patients in the third generation, both male, had spasticity, ataxia, dystonia, and mental retardation. Three examined subjects had spinal cord atrophy, and the 2 with ataxia had cerebellar atrophy. Multiple forms of spinocerebellar ataxia (e.g., SCA1; {164400}) and hereditary spastic paraplegia (e.g., SPG3; {182600}) were excluded by mutation or linkage analysis. Although clinical symptoms suggested genetic anticipation, {1:Hedera et al. (2002)} did not detect expanded trinucleotide repeats segregating with the disorder." +607572,See {609888} for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. +607578,"The diagnosis of severe breath-holding spells (BHS) in childhood is based on a distinctive and stereotyped sequence of clinical events beginning with a provocation resulting in crying or emotional upset that leads to a noiseless state of expiration accompanied by color change and ultimately loss of consciousness and postural tone ({7:Lombroso and Lerman, 1967}; {4:DiMario, 1992}). Two clinical types are recognized based on the child's coloration (cyanotic or pallid) during these events. Most children experience the cyanotic type, although some experience mixed types. BHS is an involuntary, nonvolitional, reflexic, nonepileptic paroxysmal phenomenon of childhood. The episodes occur during full expiration despite its misnomer. Autonomic dysregulation has been hypothesized as an underlying mechanism that results in loss of consciousness ({6:Hunt, 1990}; {2:DiMario and Burleson, 1993}; {1:Dimario et al., 1998})." +607585,The ATM protein is a member of the phosphatidylinositol 3-kinase (see {601232}) family of proteins that respond to DNA damage by phosphorylating key substrates involved in DNA repair and/or cell cycle control. +607594,"Common variable immunodeficiency (CVID) is a clinically and genetically heterogeneous group of disorders characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections, and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B cells are usually in the normal range, but can be low. Most individuals with CVID have onset of infections after age 10 years. CVID represents the most common form of primary immunodeficiency disorders and is the most common form of primary antibody deficiency. Approximately 10 to 20% of patients with a diagnosis of CVID have a family history of the disorder (reviews by {2:Chapel et al., 2008}, {4:Conley et al., 2009}, and {25:Yong et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Common Variable Immunodeficiency\n\nCommon variable immunodeficiency is a genetically heterogeneous disorder. See also CVID2 ({240500}), caused by mutation in the TACI gene (TNFRSF13B; {604907}); CVID3 ({613493}), caused by mutation in the CD19 gene ({107265}); CVID4 ({613494}), caused by mutation in the BAFFR gene (TNFRSF13C; {606269}); CVID5 ({613495}), caused by mutation in the CD20 gene ({112210}); CVID6 ({613496}), caused by mutation in the CD81 gene ({186845}); CVID7 ({614699}), caused by mutation in the CD21 gene (CR2; {120650}); CVID8 ({614700}), caused by mutation in the LRBA gene ({606453}); CVID10 ({615577}), caused by mutation in the NFKB2 gene ({164012}); CVID11 ({615767}), caused by mutation in the IL21 gene ({605384}); CVID12 ({616576}), caused by mutation in the NFKB1 gene ({164011}); CVID13 ({616873}), caused by mutation in the IKZF1 gene ({603023}); and CVID14 ({617765}), caused by mutation in the IRF2BP2 gene ({615332}).\n\nThe disorder formerly designated CVID9 has been found to be a form of autoimmune lymphoproliferative disorder; see ALPS3 ({615559})." +607596,"Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in little or no development. Different types were classified based on the clinical picture and the spectrum of pathologic changes. PCH type 1 is characterized by central and peripheral motor dysfunction associated with anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA; see SMA1, {253300}); death usually occurs early.\n\n<Subhead> Genetic Heterogeneity of Pontocerebellar Hypoplasia\n\nAlso see PCH1B ({614678}), caused by mutation in the EXOSC3 gene ({606489}); PCH1C ({616081}), caused by mutation in the EXOSC8 gene ({606019}); PCH1D ({618065}), caused by mutation in the EXOSC9 gene ({606180}); PCH1E ({619303}), caused by mutation in the SLC25A46 gene ({610826}); PCH1F ({619304}), caused by mutation in the EXOSC1 gene ({606493}); PCH2A ({277470}), caused by mutation in the TSEN54 gene ({608755}); PCH2B ({612389}), caused by mutation in the TSEN2 gene ({608753}); PCH2C ({612390}), caused by mutation in the TSEN34 gene ({608754}); PCH2D ({613811}), caused by mutation in the SEPSECS gene ({613009}); PCH3 ({608027}), caused by mutation in the PCLO gene ({604918}); PCH4 ({225753}), caused by mutation in the TSEN54 gene; PCH5 ({610204}), caused by mutation in the TSEN54 gene; PCH6 ({611523}), caused by mutation in the RARS2 gene ({611524}); PCH7 ({614969}), caused by mutation in the TOE1 gene ({613931}); PCH8 ({614961}), caused by mutation in the CHMP1A gene ({164010}); PCH9 ({615809}), caused by mutation in the AMPD2 gene ({102771}); PCH10 ({615803}), caused by mutation in the CLP1 gene ({608757}); PCH11 ({617695}), caused by mutation in the TBC1D23 gene ({617687}); PCH12 ({618266}), caused by mutation in the COASY gene ({609855}); PCH13 ({618606}), caused by mutation in the VPS51 gene ({615738}); PCH14 ({619301}), caused by mutation in the PPIL1 gene ({601301}); PCH15 ({619302}), caused by mutation in the CDC40 gene ({605585}); PCH16 ({619527}), caused by mutation in the MINPP1 gene ({605391}); and PCH17 ({619909}), caused by mutation in the PRDM13 gene ({616741}) on chromosome 6q16." +607616,"Niemann-Pick disease types A and B are caused by an inherited deficiency of acid sphingomyelinase activity. The clinical phenotype ranges from a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age (type A) to a later-onset nonneurologic form (type B) that is compatible with survival into adulthood. Since intermediate cases also have been reported, the disease is best regarded a single entity with a clinical spectrum (summary by {20:Schuchman, 2007}).\n\n{20:Schuchman (2007)} provided a detailed review of Niemann-Pick disease type B, including clinical management." +607624,"Griscelli syndrome type 2 (GS2) is an autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Patients also have immunologic abnormalities with or without neurologic impairment (summary by {19:Menasche et al., 2000}). Some GS2 patients have been reported in whom central nervous system manifestations are the first presentation ({22:Rajadhyax et al., 2007}, {17:Masri et al., 2008}; {20:Mishra et al., 2014}; {15:Lee et al., 2017}).\n\nFor a discussion of phenotypic and genetic heterogeneity of Griscelli syndrome, see Griscelli syndrome type 1 (GS1; {214450})." +607625,"Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene ({607623}), referred to as type C1 ({257220}); 5% are caused by mutations in the NPC2 gene ({601015}), referred to as type C2. The clinical manifestations of types C1 ({257220}) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by {5:Vance, 2006})." +607628,"Both juvenile myoclonic epilepsy and juvenile absence epilepsy are subtypes of idiopathic generalized epilepsy (EIG).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of these disorders, see EIG1 ({600669}), EJM1 ({254770}), and EJA1 ({607631})." +607631,"Juvenile absence epilepsy is a subtype of idiopathic generalized epilepsy (IGE; see {600669}). Manifestations occur around puberty, in contrast to childhood absence epilepsy (CAE; {600131}), which begins at age 6 to 7 years. Absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures are the main features of JAE. ({1:Commission on Classification and Terminology of the International League Against Epilepsy, 1989}).\n\n<Subhead> Genetic Heterogeneity of Juvenile Absence Epilepsy\n\nSee also susceptibility to juvenile absence epilepsy-2 (EJA2; see {607628}), conferred by variation in the CLCN2 gene ({600570}) on chromosome 3q26." +607634,"The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate (summary by {5:Van Hul et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Osteopetrosis\n\nAutosomal dominant osteopetrosis-2 (OPTA2; {166600}) is caused by mutation in the CLCN7 gene ({602727}) on chromosome 16p13. Autosomal dominant osteopetrosis-3 (OPTA3; {618107}) is caused by mutation in the PLEKHM1 gene ({611466}) on chromosome 17q21." +607644,"For a general description and a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 ({114580})." +607676,"Immunodeficiency-67 (IMD67) is an autosomal recessive primary immunodeficiency characterized by recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae and Staphylococcus aureus; Pseudomonas and atypical Mycobacteria may also be observed. IMD67 is life-threatening in infancy and early childhood. The first invasive infection typically occurs before 2 years of age, with meningitis representing up to 41% of the bacterial infections. The mortality rate in early childhood is high, with most deaths occurring before 8 years of age. Affected individuals have an impaired inflammatory response to infection, including lack of fever and neutropenia, although erythrocyte sedimentation rate (ESR) and C-reactive protein may be elevated. General immunologic workup tends to be normal, with normal levels of B cells, T cells, and NK cells. However, more detailed studies indicate impaired cytokine response to lipopolysaccharide (LPS) and IL1B ({147720}) stimulation; response to TNFA ({191160}) is usually normal. Patients have good antibody responses to most vaccinations, with the notable exception of pneumococcal vaccination. Viral, fungal, and parasitic infections are not generally observed. Early detection is critical in early childhood because prophylactic treatment with IVIg or certain antibiotics is effective; the disorder tends to improve naturally around adolescence. At the molecular level, the disorder results from impaired function of selective Toll receptor (see TLR4, {603030})/IL1R (see IL1R1, {147810}) signaling pathways that ultimately activate NFKB ({164011}) to produce cytokines (summary by {7:Ku et al., 2007}; {12:Picard et al., 2010}; {3:Grazioli et al., 2016}).\n\nSee also IMD68 ({612260}), caused by mutation in the MYD88 gene ({602170}), which shows a similar phenotype to IMD67. As the MYD88 and IRAK4 genes interact in the same intracellular signaling pathway, the clinical and cellular features are almost indistinguishable (summary by {12:Picard et al., 2010})." +607678,"For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B ({118200})." +607681,"Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years. Many of these patients may later develop absence seizures, which may also spontaneously remit, whereas a few may continue to have various types of febrile and afebrile seizures that persist beyond childhood, consistent with GEFS+. There is phenotypic variability in the seizure type, even within a family carrying the same mutation, suggesting that other loci may be involved (summary by {9:Singh et al., 1999} and {7:Marini et al., 2003}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.\n\nFor a phenotypic description and discussion of genetic heterogeneity of childhood absence epilepsy, see {600131}." +607682,"For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}. Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy; see {254770} for a general phenotypic description and a discussion of genetic heterogeneity of JME." +607694,"Hypomyelinating leukodystrophy-7 is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability (summary by {2:Bernard et al., 2011}).\n\nSee also HLD8 ({614381}), which has similar features and is caused by mutation in the POLR3B gene ({614366}) on chromosome 12q23. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}." +607721,"Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome ({163950}), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by {1:Bertola et al., 2017}).\n\n<Subhead> Reviews\n\n{6:Komatsuzaki et al. (2010)} reviewed the clinical manifestations of patients with Noonan syndrome, Costello syndrome ({218040}), and cardiofaciocutaneous syndrome (CFC; see {115150}) compared to patients with mutations in the SHOC2 gene. They noted that although there is phenotypic overlap among the disorders, loose anagen/easily pluckable hair had not been reported in mutation-positive patients with Noonan, CFC, or Costello syndrome, and appeared to be a distinctive feature of SHOC2 mutation-positive patients.\n\n<Subhead> Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen Hair\n\nNSLH2 ({617506}) is caused by mutation in the PPP1CB gene ({600590}) on chromosome 2p23." +607728,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({1:Schamroth et al., 1997}). However, as noted by {2:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members as well as individuals expressing more than one variant have been reported, suggesting that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {3:Wu et al., 2004} and {6:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}." +607731,"For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 ({118210}).\n\nCMT2H maps to the same region that contains the GDAP1 gene ({606598}), mutations in which cause autosomal recessive demyelinating CMT4A ({214400})." +607736,"For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 ({118210})." +607745,"Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae ({7:Shevell et al., 1986}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764})." +607748,"Familial hypercholanemia-1 (FHCA1) is an autosomal recessive disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins. Vitamin D deficiency results in rickets, and vitamin K deficiency results in a coagulopathy ({2:Morton et al., 2000}; {3:Shneider et al., 1997}; summary by {1:Carlton et al., 2003}).\n\nSee also bile acid conjugation defect-1 (BACD1; {619232}), which can also show increased bile acid levels, although the bile acids in BACD1 are unconjugated.\n\n<Subhead> Genetic Heterogeneity of FHCA\n\nSee FHCA2 ({619256}), caused by mutation in the SLC10A1 gene ({182396}) on chromosome 14q24." +607759,"The ITGA2B gene encodes platelet glycoprotein IIb, the alpha subunit of the platelet membrane adhesive protein receptor complex GPIIb/IIIa. The beta subunit, GPIIIa, is encoded by the ITGB3 gene ({173470}). The GPIIb/IIIa complex belongs to the integrin class of cell adhesion molecule receptors that share a common heterodimeric structure with alpha and beta subunits (summary by {5:Bray et al., 1987} and {2:Bajt et al., 1992})." +607765,"Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by {2:Cheng et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis\n\nThere are several disorders that result from defects in bile acid synthesis. See CBAS2 ({235555}), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; {604741}) on chromosome 7q33; CBAS3 ({613812}), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; {603711}) on chromosome 8q12; CBAS4 ({214950}), caused by mutation in the AMACR gene ({604489}) on chromosome 5p13; CBAS5 ({616278}), caused by mutation in the ABCD3 gene ({170995}) on chromosome 1p21; and CBAS6 ({617308}), caused by mutation in the ACOX2 gene ({601641}) on chromosome 3p14.\n\nSee also progressive familial intrahepatic cholestasis (PFIC1; {211600}), which has a similar phenotype." +607785,"Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny ({9:Loh et al., 2009}). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia ({5:Hasle et al., 1999}). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT ({13:Niemeyer et al., 1997}). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 ({601511}) hyperphosphorylation ({9:Loh et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Juvenile Myelomonocytic Leukemia\n\nIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 ({176876}), KRAS ({190070}), and NRAS ({164790}) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall ({9:Loh et al., 2009}). Somatic disruptions of the GRAF gene (ARHGAP26; {605370}) have also been found in patients with JMML.\n\nAbout 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1; {162200}) due to germline mutations in the NF1 gene ({613113}). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL; {613563}) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML.\n\n<Subhead> Genetic Heterogeneity of Chronic Myelomonocytic Leukemia\n\nSomatic mutations in the CBL, ASXL1 ({612990}), TET2 ({612839}), and SF3B1 ({605590}) genes have been found in patients with CMML." +607812,"Craniolenticulosutural dysplasia is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects (summary by {3:Boyadjiev et al., 2011})." +607823,"Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by {4:Irrthum et al., 2003})." +607829,"Patients with MVP2 have nonsyndromic MVP of variable severity inherited as an autosomal dominant trait.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 ({157700})." +607832,"Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) ({3:Meyrier, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278})." +607834,"Human personality is shaped by genetic and environmental factors, and evidence suggests that the genetic component is highly complex, polygenic, and epistatic. Genetic factors are thought to contribute to 40 to 60% of trait variance. Molecular genetics has tried to identify specific genes for quantitative traits, called quantitative trait loci (QTLs). The QTL concept suggests that complex personality traits or dimensions are not attributable to single genes, but to multiple interacting genes ({15:Reif and Lesch, 2003}).\n\n{2:Fullerton et al. (2003)} stated that psychologists were in agreement that the wide variation in human personalities can be explained by a small number of personality factors, including neuroticism (a measure of emotional stability), which manifests at one extreme as anxiety, depression, moodiness, low self-esteem, and diffidence. They cited a number of studies that had described a relationship between high scores on measures of neuroticism and major depressive disorder. They also noted that theoretical studies had suggested that large samples of randomly ascertained sibs could be used to ascertain phenotypically extreme individuals and thereby increase power to detect genetic linkage in complex traits.\n\nSee also panic disorder (PAND1; {167870}), which is a subtype of anxiety disorder." +607842,"{1:Altmann (1955)} was the first to describe a congenital aural atresia (CAA) classification, which has been modified over the years ({2:Cremers et al., 1988}; {7:Schuknecht, 1989}; {4:Jahrsdoerfer et al., 1992}). In CAA type I, there is bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity (summary by {3:Feenstra et al., 2011})." +607847,"Nonimmune chronic idiopathic neutropenia of adults (NI-CINA) is a relatively mild form of neutropenia diagnosed in adults but predisposing to leukemia in a subset of patients ({2:Papadaki et al., 2002})." +607853,"For a phenotypic description and a discussion of genetic heterogeneity of panic disorder, see {167870}." +607855,"Merosin-deficient congenital muscular dystrophy is an autosomal recessive form of muscular dystrophy characterized by muscle weakness apparent at birth or in the first 6 months of life. Patients show hypotonia, poor suck and cry, and delayed motor development; most never achieve independent ambulation. Most patients also have periventricular white matter abnormalities on brain imaging, but mental retardation and/or seizures occur only rarely (summary by {30:Xiong et al., 2015})." +607857,"For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 ({177900})." +607859,"Tufted angioma is a rare benign vascular lesion that predominantly affects children under 5 years of age but may occur in adulthood. Some cases of tufted angioma have been reported in the mother during pregnancy, whereas in other cases the tufted angioma may be congenital. The lesions occur predominantly on the neck, shoulders, and trunk and appear histologically in a 'cannonball' distribution of rounded nodules or tufts of capillary-sized vessels in the dermis, with lymphatic vessels present at the periphery. The natural history is slow progressive growth, after which it tends to remain stable in size. Regression has been reported in some cases. Tufted angioma should be distinguished from kaposiform hemangioendothelioma (KHE). Multiple tufted angioma and KHE may be associated with Kasabach-Merritt syndrome ({141000}), which is characterized by severe thrombocytopenia and consumption of coagulation factors (summary by {2:Tille et al., 2003})." +607872,"The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation ({21:Shapira et al., 1997}). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births ({20:Shaffer and Lupski, 2000}; {14:Heilstedt et al., 2003}).\n\nSee also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; {616975}), which shows overlapping features and is caused by heterozygous mutation in the RERE gene ({605226}) on proximal chromosome 1p36.\n\nSee also Radio-Tartaglia syndrome (RATARS; {619312}), caused by mutation in the SPEN gene ({613484}) on chromosome 1p36, which shows overlapping features." +607876,"Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by {4:De Fusco et al., 2014}; {2:Crompton et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 ({601068})." +607893,"For a general discussion of ovarian cancer, see {167000}." +607903,"Localized autosomal recessive hypotrichosis is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by {5:Schaffer et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Recessive Localized Hypotrichosis\n\nLAH2 (HYPT7; {604379}) is caused by mutation in the LIPH gene ({607365}) on chromosome 3q27, and LAH3 (HYPT8; {278150}) is caused by mutation in the LPAR6 (P2RY5) gene ({609239}) on chromosome 13q14.12-q14.2.\n\nSee also hypotrichosis and recurrent skin vesicles ({613102}), which is caused by mutation in the DSC3 gene ({600271})." +607906,"Congenital disorder of glycosylation type Ii (CDG1I) is a rare autosomal recessive disorder characterized by neurologic involvement, including a convulsive syndrome of unknown origin, axial hypotonia, and mental and motor regression (summary by {1:Papazoglu et al., 2021}).\n\nFor a general discussion of CDGs, see CDG1A ({212065})." +607907,"Dermatofibrosarcoma protuberans (DFSP) is an uncommon, locally aggressive, but rarely metastasizing tumor of the deep dermis and subcutaneous tissue. It typically presents during early or middle adult life and is most frequently located on the trunk and proximal extremities ({7:Sandberg et al., 2003})." +607944,"Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present ({14:Menger et al., 1989}). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations ({17:Renella et al., 2006}). {3:Briggs et al. (2016)} also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family.\n\n<Subhead> Classification of the Enchondromatoses\n\nIn their classification of the enchondromatoses, {24:Spranger et al. (1978)} called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis ({156250}), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. {11:Halal and Azouz (1991)} added 3 tentative categories to the 6 in the classification of {24:Spranger et al. (1978)}.\n\n{16:Pansuriya et al. (2010)} suggested a new classification of enchondromatosis (multiple enchondromas)." +607948,"Mycobacterium tuberculosis latently infects approximately one-third of humanity and is comparable only to human immunodeficiency virus (HIV; see {609423}) as a leading infectious cause of mortality worldwide. Obstacles for controlling TB infection include lengthy treatment regimens of 6 to 9 months, drug resistance, lack of a highly efficacious vaccine, and incomplete understanding of the factors that control infectivity and disease progression. Although only 10% of individuals infected with M. tuberculosis develop active disease, the immune responses associated with TB susceptibility or resistance are not known. In addition, it is not known why some individuals have disseminated TB that spreads to the meninges and central nervous system, while most people have localized disease in the lungs. A number of studies suggest that host genetic factors influence susceptibility and resistance to TB (review by {9:Berrington and Hawn, 2007})." +607949,"For a general discussion of susceptibility to Mycobacterium tuberculosis (TB), see {607948}.\n\nAn epidemic of TB occurred in a community of aboriginal Canadians during the period of 1987 to 1989. {1:Greenwood et al. (2000)} collected genetic and epidemiologic data on an extended family from this community, and assessed evidence for linkage to the NRAMP1 gene ({600266}). Individuals were grouped into risk (liability) classes based on vaccination, age, previous disease, and tuberculin skin-test results. Using YAC analysis, and under the assumption of a dominant mode of inheritance and a relative risk of 10, which is associated with the high-risk genotypes, {1:Greenwood et al. (2000)} observed a maximum lod score of 3.81 for linkage between a TB susceptibility locus and D2S424, which is located just distal to NRAMP1, in 2q35. Significant linkage was also observed between a TB susceptibility locus and a haplotype of 10 NRAMP1 intragenic variants. No linkage to the major histocompatibility complex region on 6p was observed, despite distortion of transmission from one member of the oldest couple to their affected offspring." +607965,"Renal disease occurs in 40 to 75% of systemic lupus erythematosus (SLE; {152700}) patients and significantly contributes to morbidity and mortality ({1:Garcia et al., 1996}). {2:Quintero-Del-Rio et al. (2002)} explored the impact of the American College of Rheumatology's renal criterion for SLE classification on genetic linkage with SLE. They evaluated genome scan data in 75 pedigrees that had at least 1 SLE patient affected according to the SLE renal criterion. A maximum-likelihood parametric model approach produced a maximum screening lod score of 3.16 at 10q22.3 in European American pedigrees. A multipoint sib-pair regression analysis showed evidence of linkage to this locus (P = 0.0000008) in European American pedigrees." +607966,"Renal disease occurs in 40 to 75% of systemic lupus erythematosus (SLE; {152700}) patients and significantly contributes to morbidity and mortality ({1:Garcia et al., 1996}). {2:Quintero-Del-Rio et al. (2002)} explored the impact of the American College of Rheumatology's renal criterion for SLE classification on genetic linkage with SLE. They evaluated genome scan data in 75 pedigrees that had at least 1 SLE patient affected according to the SLE renal criterion. A multipoint sib-pair regression analysis produced evidence of linkage in African American pedigrees at a locus on 2q34-q35 (P = 0.000001), which {2:Quintero-Del-Rio et al. (2002)} designated SLEN2." +607967,"Renal disease occurs in 40 to 75% of systemic lupus erythematosus (SLE; {152700}) patients and significantly contributes to morbidity and mortality ({1:Garcia et al., 1996}). {2:Quintero-Del-Rio et al. (2002)} explored the impact of the American College of Rheumatology's renal criterion for SLE classification on genetic linkage with SLE. They evaluated genome scan data in 75 pedigrees that had at least 1 SLE patient affected according to the SLE renal criterion. A maximum-likelihood parametric model approach produced a maximum screening lod score of 2.58 at 11p15.6 in African American pedigrees. In 35 pedigrees with 2 or more SLE patients with renal disease, they found a lod score of 3.34 at 11p15.6 in African American pedigrees; however, as there is no band 11p15.6, the presumed location is 11p15.5. They designated this locus SLEN3. Sib-pair analysis in the pedigrees with 2 or more SLE patients revealed P = 0.00003 at 11p13 in African Americans." +608013,"Perinatal lethal Gaucher disease is considered to be a distinct form of type II Gaucher disease ({230900}) ({6:Mignot et al., 2003})." +608022,"Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases (summary by {1:Funari et al., 2010})." +608027,"Pontocerebellar hypoplasia (PCH) refers to a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. Clinical features vary, but usually include severe developmental delay, dysmorphic features, seizures, and early death (summary by {2:Durmaz et al., 2009}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596})." +608028,"{1:Kantaputra et al. (2003)} described a 12-year-old Thai girl with what they proposed represents a 'new' syndrome of proximal and distal symphalangism, postaxial polydactyly, hypodontia, and multiple and hyperplastic frenula. Blepharoptosis and dysplastic ears were also described. The fingernails were not dysplastic. The patient was of short stature. In the feet there was absence of the distal phalanges of toes II-V and postaxial polydactyly of the left foot. Mutation analyses of NOG ({602991}) and GDF5 ({601146}), the genes responsible for symphalangism-related syndromes, were negative." +608031,"For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 ({105400})." +608035,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {2:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma (CMM), see {155600}." +608045,"{2:Nishimoto et al. (2001)} mapped a repressor of telomerase expression to a 2.7-cM region on 10p15.1 by microcell-mediated chromosome transfer (MMCT) into a telomerase-positive cell line. Since loss of chromosome 10 is frequent in malignant gliomas (see {137800}), as demonstrated by loss of heterozygosity (LOH), {1:Leuraud et al. (2003)} investigated the specific relationship between telomerase reactivation and the frequently demonstrated LOH on 10p15.1 in high-grade gliomas. In a series of 51 high-grade gliomas analyzed for LOH on chromosome 10 and for telomerase activity, a statistically significant relationship of telomerase activity to LOH of 10p was found, suggesting that a telomerase repressor gene located on 10p15.1 is inactivated in high-grade gliomas." +608049,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({1:Bailey et al., 1996}; {4:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({3:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({6:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}.\n\nSee also chromosome 13q14 deletion syndrome ({613884}) in which retinoblastoma and mental retardation are features." +608063,"{1:Nakamura et al. (2003)} examined a newborn who had no bile and pancreatic ducts. Hydrops was evident after 29 weeks of gestation, and she died shortly after birth. One of her sibs, a male, had died of hydrops at about 6 months of gestation, and there were 2 more miscarriages of unknown causes. The newborn had 2 healthy but small sisters, who were 4 years and 1 year of age, respectively. The parents were not consanguineous. The presumed occurrence in at least 2 sibs, a brother and sister, suggested a genetic basis. At autopsy on the newborn, the liver had an abnormally round shape and the pancreas was not in the normal position. There was an ectopic small pancreas with normally developed islets. Histologic analysis showed complete absence of extra- and intrahepatic bile and pancreatic ducts. Immunostaining of these tissues showed no positive bile duct marker staining using epithelial membrane antigen ({158340}) and cytokeratin-19 ({148020}) in the liver. Albumin ({103600}) and alpha-fetoprotein ({104150}) staining was positive in the liver, and insulin ({176730}) and glucagon ({138030}) staining was positive in the remaining islets of the pancreas.\n\n{1:Nakamura et al. (2003)} noted that, in animal studies, Pdx1 ({600733}) deficiency and Hlxb9 ({142994}) deficiency lead to agenesis of the pancreas and/or ectopic pancreas, and, in humans, PDX1 deficiency has manifestations ranging from agenesis of the pancreas to maturity-onset diabetes of the young-4 (MODY4; {606392}). However, pancreatic ducts are not affected in either PDX1 deficiency or HLXB9 deficiency. Patients with Alagille syndrome (see {118450}) have paucity or absence of intrahepatic bile ducts, but congenital absence of the interlobular bile ducts has not been noted, and pancreatic ducts are normal. One feature of Meckel syndrome ({249000}) is hepatic ductal dysplasia, but complete defects of both bile and pancreatic ducts has not been described. {1:Nakamura et al. (2003)} concluded that the complete absence of bile and pancreatic ducts represents a novel entity related to a gene involved in bile and pancreatic duct development." +608068,"Acute febrile neutrophilic dermatosis (AFND) is an autosomal dominant autoinflammatory disorder characterized by onset of recurrent fever and dermatologic abnormalities in childhood. Laboratory studies show elevated acute-phase reactants and activation of the inflammatory response, particularly IL1B ({147720}). Additional more variable features may include myalgia and arthralgia (summary by {3:Masters et al., 2016})." +608088,"The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN) in the absence of significant autonomic features, are a genetically and clinically heterogeneous group of disorders associated with sensory dysfunction. For a discussion of genetic heterogeneity of HSAN, see HSAN1A ({162400})." +608091,"Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices ({4:Maria et al., 1997}). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) ({1:Chance et al., 1999}; {5:Satran et al., 1999})." +608093,"Like all CDGs, which are caused by a shortage of precursor monosaccharide phosphate or deficiencies in the glycosyltransferases required for lipid-linked oligosaccharide precursor (LLO) synthesis, CDG Ij is caused by a defect in the formation of DPAGT1, the first dolichyl-linked intermediate of the protein N-glycosylation pathway.\n\nFor a general discussion of CDGs, see CDG1A ({212065})." +608096,"Familial temporal lobe epilepsy (FTLE, ETL) is a genetically heterogeneous syndrome characterized by relatively benign simple or complex partial seizures with intense psychic or autonomic auras ({1:Berkovic et al., 1996}).\n\nFor a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL1 ({600512})." +608098,"For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}." +608099,"Autosomal recessive limb-girdle muscular dystrophy-3 (LGMDR3) affects mainly the proximal muscles and results in difficulty walking. Most individuals have onset in childhood; the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures. Cardiomyopathy has rarely been reported (summary by {2:Babameto-Laku et al., 2011}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 ({253600})." +608104,"CDGs, previously called carbohydrate-deficient glycoprotein syndromes, grew from hereditary multisystem disorders first recognized by {3:Jaeken et al. (1980)}. The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. For a general discussion of CDGs, see CDG1A ({212065}).\n\nCDG1H is a severe form of CDG. The majority of patients have brain involvement, liver pathology, gastrointestinal symptoms, dysmorphism (including brachydactyly), eye involvement (especially cataract), and skin symptoms. Most patients die within the first year of life (summary by {4:Marques-da-Silva et al., 2017})." +608105,"Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is an autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Features usually include involuntary movements, including facial movements, and difficulties with fine motor skills of the hand. Seizures often respond to medication and remit with age; the dystonia tends to persist (summary by {2:Luthy et al., 2019})." +608106,"Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.\n\nFor a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 ({308230})." +608118,"Transient neonatal zinc deficiency occurs in breast-fed infants as a consequence of low milk zinc concentration in their nursing mothers, which cannot be corrected by maternal zinc supplementation. A large amount of zinc, an essential trace mineral, is required for normal growth particularly in infants, and breast milk normally contains adequate zinc to meet the requirement for infants up to 4 to 6 months of age. Zinc deficiency can lead to dermatitis, alopecia, decreased growth, and impaired immune function. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by {3:Chowanadisai et al., 2006}).\n\nSome aspects of TNZD resemble the more severe disorder acrodermatitis enteropathica (AEZ; {201100}), an autosomal recessive disorder caused by mutation in the zinc transporter SLC39A4 ({607059}). However, infants with transient neonatal zinc deficiency do not require zinc supplementation following weaning and have normal zinc absorption, whereas those with AEZ require lifelong zinc supplementation (summary by {3:Chowanadisai et al., 2006})." +608156,"Nablus mask-like facial syndrome (NMLFS) is a rare entity defined by distinctive facial features, including blepharophimosis, tight-appearing glistening facial skin, an abnormal hair pattern with an upswept frontal hairline, sparse arched eyebrows, flat and broad nose, long philtrum, distinctive ears, and a happy demeanor (summary by {2:Jain et al., 2010})." +608161,"Adult-onset foveomacular vitelliform dystrophy, also known as adult vitelliform macular dystrophy, adult-type foveomacular dystrophy, adult vitelliform macular degeneration, pseudovitelliform macular degeneration, and adult-onset foveomacular pigment epithelial dystrophy, is characterized by a solitary, oval, slightly elevated yellowish subretinal lesion of the fovea that is similar in appearance to the vitelliform or egg-yolk stage of Best disease ({153700}). Initially the yellow lesion may be present in only one eye. The size is generally one-third to one disc diameter, and small yellow flecks are seen in the paracentral lesion. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted decrease of visual acuity and mild metamorphopsia. Electrooculographic testing reveals a normal or only slightly reduced Arden ratio, which is intensely abnormal in Best disease. The prognosis is optimistic, as most patients retain reading vision throughout life ({5:Felbor et al., 1997}; {12:Yamaguchi et al., 2001}).\n\nFor a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 ({153840})." +608173,"The autoimmune thyroid disorders, or AITDs, comprise 2 related disorders, Graves disease ({275000}) and Hashimoto thyroiditis ({140300}). In both disorders, thyroid-reactive T cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T cells undergo a Th2 differentiation and activate B cells to produce antibodies against the TSH receptor (TSHR; {603372}), which stimulate the thyroid and cause clinical hyperthyroidism ({1:Davies, 2000}). In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism ({8:Weetman, 1996}). Both disorders are common, with a prevalence in the United States of approximately 1% ({2:Hollowell et al., 2002}) and a female preponderance ({5:Tomer et al., 1997}). The pathogenesis of the AITDs involves a complex interaction between genetic predisposing factors and environmental triggering factors ({6:Tomer and Davies, 1993}). Graves disease and Hashimoto thyroiditis cluster in families, and in the same individual, Graves disease can evolve into Hashimoto thyroiditis and vice versa, raising the possibility that genetic susceptibility is conferred by similar or related genes. Association with HLA and CTLA4 ({123890}) has been identified ({5:Tomer et al., 1997}).\n\n{4:Tomer et al. (1999)} performed a whole-genome linkage study of a dataset of 56 multiplex, multigenerational AITD families (354 individuals) using 387 microsatellite markers. They identified 6 loci that showed evidence for linkage to AITD. Only one locus, on chromosome 6 (AITD1; 80 cM) was linked with both. This locus was close to, but distinct from, the HLA region. One locus on chromosome 13 (HT1; 96 cM) was linked to HT (maximum lod score, 2.1), and another locus on chromosome 12 (HT2; 97 cM) was linked to HT in a subgroup of the families (maximum lod score, 3.8). Three loci showed evidence for linkage with GRD: GRD1 on chromosome 14 (99 cM; maximum lod score, 2.5), GRD2 on chromosome 20 (56 cM; maximum lod score, 3.5), and GRD3 on chromosome X (114 cM; maximum lod score, 2.5). Since GRD2 showed the strongest evidence for linkage to GRD, they fine-mapped this locus to a 1-cM interval between markers at 55 and 56 cM on chromosome 20. The authors concluded that GRD and Hashimoto thyroiditis are genetically heterogeneous, with only one locus in common to both diseases on chromosome 6; that only one HT locus was identified in all families, probably due to heterogeneity of the HT phenotype; and 3 loci were shown to induce genetic susceptibility to GRD by interacting with each other. One of them, GRD2, was fine-mapped to a 1-cM interval.\n\n{3:Tomer et al. (2003)} performed a whole-genome linkage study in an expanded data set of 102 multiplex families with AITD (540 individuals), using 400 microsatellite markers. Seven loci showed evidence for linkage to AITD. Three loci, on chromosomes 6p (AITD1), 8q (AITD3; {608175}), and 10q (AITD4; {608176}), showed evidence for linkage with both GD and HT (maximum multipoint heterogeneity lod scores (hlod) 2.0, 3.5, and 4.1, respectively). At the 6p locus, the maximum 2-point lod score was 2.1 for marker D6S422 (34 cM), obtained for a recessive model, with 30% penetrance and a recombination fraction of 0.2.\n\n{7:Vaidya et al. (2002)} reviewed the genetics of AITD including hyperthyroid Graves disease, Hashimoto (goitrous) thyroiditis, atrophic autoimmune hypothyroidism, postpartum thyroiditis, and thyroid-associated orbitopathy (TAO). These different manifestations of AITD may occur synchronously, most frequently as the combination of Graves disease and TAO. Together, AITDs are the most common autoimmune disorders in the population, affecting between 2 and 4% of women and up to 1% of men. Furthermore, AITD prevalence increases with advancing age, with more than 10% of subjects over 75 years of age having biochemical evidence of mild (subclinical) hypothyroidism, the majority of which is due to autoimmune disease. They reviewed the associations of AITD with other autoimmune disorders, monogenic and chromosomal disorders that have AITD as a component, and AITDs as complex genetic traits. Additionally they reviewed the relationship of HLA and MHC-linked genes with AITD." +608174,"The autoimmune thyroid disorders, or AITDs, comprise 2 related disorders, Graves disease (GD; {275000}) and Hashimoto thyroiditis (HT; {140300}). See {608173}." +608176,"The autoimmune thyroid disorders, or AITDs, comprise 2 related disorders, Graves disease ({275000}) and Hashimoto thyroiditis ({140300}). See {608173}.\n\n{1:Tomer et al. (2003)} performed a whole-genome linkage study in an expanded data set of 102 multiplex families with AITD (540 individuals), using 400 microsatellite markers. Seven loci showed evidence for linkage to AITD (either Graves disease or Hashimoto thyroiditis or both). Three loci, on chromosomes 6p (AITD1; {608173}), 8q (AITD3; {608175}), and 10q (AITD4), showed evidence for linkage with both GD and HT (maximum multipoint heterogeneity lod scores (hlod) 2.0, 3.5, and 4.1, respectively). The maximum 2-point lod score at the 10q locus was 2.7 for marker D10S537 (93.3 cM) under the assumption of a recessive model at a penetrance of 30%. At a penetrance of 80% the lod score for D10S537 increased to 3.6. The results demonstrated that multiple genes may predispose to both Graves disease and Hashimoto thyroiditis and that some may be common to both diseases and some unique. The loci that continued to show evidence for linkage in the expanded data set represented serious candidate regions for gene identification." +608184,"Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process (summary by {1:Imai et al., 2003}).\n\nFor a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 ({308230})." +608203,"Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections. Laboratory studies show leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities. Neutrophils showed decreased chemotaxis associated with actin polymerization abnormalities, as well as variably impaired oxidative responses. Hematopoietic stem cell transplant may be curative (summary by {1:Accetta et al., 2011}; review by {3:Lougaris et al., 2020}).\n\nIn a review of autosomal forms of chronic granulomatous disease (see {306400} for genetic heterogeneity of CGD), {4:Roos et al. (2021)} noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity." +608217,"For a phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 ({121200})." +608220,"For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia (SPG), see SPG5A ({270800})." +608223,"Aspirin (acetylsalicylic acid) is a classic nonsteroidal antiinflammatory agent that irreversibly inhibits type I cyclooxygenase (PTGS1, or COX1; {176805}) in platelets, resulting in decreased production of thromboxane A2 (TXA2) and inhibition of platelet aggregation. Because of this feature, it is used therapeutically to prevent cardiothrombotic events. Individuals show a variable response to the drug, referred to as aspirin ineffectiveness or resistance, in which not all individuals or populations appear to receive the full prophylactic or therapeutic benefits (summary by {13:Zhou et al., 2011}).\n\n{8:Halushka and Halushka (2002)} discussed a possible basis for resistance to the cardioprotective effect of aspirin." +608224,"Autosomal dominant deafness-41 (DFNA41) is characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies (summary by {4:Yan et al., 2013})." +608227,"{1:Siegel-Bartlet et al. (2002)} reported 2 female sibs with congenital heart defects: one with atrial and ventricular septal defects, which were surgically repaired, and the other with a ventricular septal defect that closed spontaneously. Both sibs also had a sacral neural tube defect with tethered cord requiring surgical repair. Other common features included bilateral hyperopia, rapid onset of cataracts, aphakic glaucoma, and abnormal facial features with low anterior hairline, short philtrum with full lips, prominent widely spaced central incisors, and micrognathia. There was generalized growth and developmental delay. {1:Siegel-Bartlet et al. (2002)} distinguished the disorder from Kousseff syndrome (see {188400}) by the presence of cataracts. They suggested that the apparently autosomal recessive MCA/MR disorder in their family might be caused by a metabolic derangement." +608233,"Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by platelet defects and oculocutaneous albinism. HPS2 differs from the other forms of HPS in that it includes immunodeficiency, and patients with HPS2 have an increased susceptibility to infections due to congenital neutropenia ({6:Jung et al., 2006})." +608244,"For a phenotypic description and a discussion of genetic heterogeneity of otosclerosis, see OTSC1 ({166800})." +608257,"{1:Hedera et al. (2002)} reported a family in which 8 members over 4 generations were affected with mandibulofacial dysostosis in an autosomal dominant pattern. Six of the affected individuals were examined. Characteristic features included hypoplasia of the zygomatic arch, micrognathia with malocclusion, auricular abnormalities with conductive hearing loss, and ptosis. Genetic analysis excluded linkage to the TCOF1 gene ({606847}) on chromosome 5q, mutation in which causes Treacher Collins syndrome ({154500}). The authors distinguished the syndrome in this family from other disorders with similar phenotypes, including Goldenhar syndrome ({164210}) and the Bauru type of mandibulofacial dysostosis ({604830})." +608278,"{1:Shotelersuk et al. (2003)} described a Thai sister and brother, born of healthy, unrelated parents, with a combination of features interpreted as representing a novel autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome. Both sibs had postnatal-onset growth deficiency, microcephaly with cortical dysplasia and cerebellar atrophy, bilateral lenticular cataracts, prominent supraorbital ridges, large joint contractures, severe osteoporosis, and mental retardation. The brother also had infrequent tonic-clonic seizures beginning at age 5 years, an arachnoid cyst in the right temporal area, bilateral ankle clonus, and upgoing plantar reflexes. Two other sibs were healthy. {1:Shotelersuk et al. (2003)} compared and contrasted the syndrome in these 2 sibs with other syndromes characterized by microcephaly, mental retardation, growth failure, and childhood cataracts." +608281,"{1:Ruggieri et al. (2003)} reported a brother and sister, offspring of nonconsanguineous Italian parents, with scimitar anomaly ({106700}), multiple cardiac malformations, and craniofacial and CNS anomalies. Cardiac studies in a healthy sib, the parents, and all of the grandparents were normal. In addition to partial anomalous pulmonary venous return, cardiac malformations included atrial septal defects and muscular ventricular septal defects. Craniofacial anomalies included high and broad foreheads, hypertelorism, retrognathia, and large sutures and fontanels. CNS abnormalities consisted of poor brain myelination in both sibs and an enlarged cisterna magna in the brother. Both had normal high resolution karyotypes and normal testing with subtelomeric chromosomal probes. Both sibs died of pulmonary hypertension in infancy." +608290,"{1,3:Lelis (1978, 1979)} described 4 unrelated patients of eastern European origin with the association of ectodermal dysplasia and acanthosis nigricans. {2:Lelis (1992)} added 3 new cases to the literature. The 7 patients, 3 males and 4 females, ranged in age from 11 to 53 years, and all had hypotrichosis, hypohidrosis, and acanthosis nigricans. Two had perioral radial furrows, 5 had hypodontia, 4 had palmoplantar hyperkeratosis, and 5 had furrowed tongues. Three had nail dystrophy and 1 was mentally retarded. All 7 cases were sporadic, and no similar signs were found in close relatives. One patient had normal children.\n\n{4:Steiner et al. (2002)} reported a 31-year-old male patient with ectodermal dysplasia, acanthosis nigricans, hypotrichosis, hypohidrosis, palmoplantar hyperkeratosis, nail dystrophy, early-onset loss of permanent dentition, perioral radial furrows, and mental retardation. He was the eleventh child of a 47-year-old father and 40-year-old mother of Portuguese, Afro-Brazilian, and Amerindian ancestry. His parents and sibs were healthy. His growth parameters were within normal limits. Metabolic and hormonal testing was normal, as was his karyotype, computed tomography scan of the brain, and radiographs of the skull, hands, and feet.\n\nBecause the facial features, hypotrichosis, and anodontia seen in a patient diagnosed with Lelis syndrome ({6:van Steensel et al., 2008}) were reminiscent of hypohidrotic ectodermal dysplasia (HED; see {305100}), {5:van Steensel and van der Hout (2009)} analyzed the EDA gene ({300451}) in this patient and identified a known causative missense mutation (R156H; {300451.0007}). {5:Van Steensel and van der Hout (2009)} suggested that Lelis syndrome may be a manifestation of X-linked HED." +608316,"For a discussion of genetic heterogeneity of coronary heart disease (CHD), see {607339}." +608318,"For a discussion of genetic heterogeneity of coronary heart disease (CHD), see {607339}." +608320,"Coronary artery disease (CAD) and its most important complication, acute myocardial infarction (MI), are leading causes of death and disability in the developed world. Multiple risk factors for CAD/MI have been identified, including family history, hypertension, hypercholesterolemia, obesity, smoking, and diabetes. Several genomewide scans of affected sib pairs have identified susceptibility loci for CAD, e.g., {607339} and {300464}." +608328,"Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities ({3:Faivre et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}." +608340,"Autosomal recessive intermediate Charcot-Marie-Tooth disease A (CMTRIA) is a peripheral neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy. The upper limbs may also be affected. Electrophysiologic studies and sural nerve biopsy show mixed features of demyelinating and axonal neuropathy. Onset is usually in early childhood (summary by {5:Senderek et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Recessive Intermediate Charcot-Marie-Tooth Disease\n\nSee also CMTRIB ({613641}), caused by mutation in the KARS gene ({601421}) on chromosome 16q; CMTRIC ({615376}), caused by mutation in the PLEKHG5 gene ({611101}) on chromosome 1p36; and CMTRID ({616039}), caused by mutation in the COX6A1 gene ({602072}) on chromosome 12q24." +608345,"Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' ({4:Tarpey et al., 2006}; {3:Shiels et al., 2007}).\n\nFor a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 ({310700})." +608354,"Capillary malformation-arteriovenous malformation-1 (CMAVM1) is an autosomal dominant disorder characterized by atypical capillary malformations (CMs), often in association with fast-flow vascular malformations, including arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), and Parkes Weber syndrome (PKWS). The CMs are usually multifocal and are surrounded by a pale halo with a central red dot; they increase in number with age. The AVMs generally occur in the brain or on the face or extremities. Intracranial AVMs include vein of Galen aneurysmal malformations (VGAMs). Parkes Weber syndrome is a specific type of CMAVM that presents with limb overgrowth, more commonly affecting one of the lower extremities ({2:Eerola et al., 2003}; {9:Revencu et al., 2013}; {6:Johnson and Navarro, 2017}). Parkes Weber syndrome is characterized by a cutaneous blush with underlying multiple micro-AVFs in association with soft-tissue and skeletal hypertrophy of the affected limb ({8:Mulliken and Young, 1988}).\n\n<Subhead> Genetic Heterogeneity of Capillary Malformation-Arteriovenous Malformation\n\nAlso see CMAVM2 ({618196}), caused by mutation in the EPHB4 gene on chromosome 7q22." +608358,"Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary by {7:Dye et al., 2006})." +608367,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {2:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +608371,"For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see {119530}." +608390,"In a report on the 37th ENMC Workshop, {12:Rudel and Lehmann-Horn (1997)} stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia." +608391,"For a discussion of autoimmunity, see {109100}. See also vitiligo ({606579})." +608392,"For a discussion of autoimmunity, see {109100}. See also vitiligo ({606579})." +608406,"VATER association ({192350}) is an acronym for a combination of malformations including vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial dysplasia. {1:Braddock (2003)} described 2 sisters with a seemingly distinct multiple malformation syndrome with VATER-like defects. The features of the syndrome included vertebral defects, cardiac abnormalities, pulmonary hypertension, laryngeal webs, blue sclerae, and persistent growth deficiency. Autosomal recessive inheritance was proposed." +608410,"For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see {606641}." +608423,"Autosomal dominant limb-girdle muscular dystrophy-2 is a myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. There is variability in presentation and progression. Some patients present in early childhood with mildly delayed walking and difficulty running and jumping, whereas others present as adults with mainly pelvic-girdle weakness. Patients with early onset tend to have a more severe disorder, and may develop contractures, loss of independent ambulation, and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions (summary by {2:Melia et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 ({603511})." +608437,"For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus, see {152700}." +608447,"For phenotypic information on carotid artery intimal medial thickness, see entry {609338}.\n\n{1:Fox et al. (2004)} performed a genomewide linkage analysis to localize a quantitative trait locus (QTL) influencing carotid intimal medial thickness (IMT). Carotid IMT was measured in 596 men and 629 women from 311 extended families (1,242 sib pairs) in the Framingham Heart Study Offspring cohort. B-mode carotid ultrasonography was used to define mean IMT of the carotid artery segments. They found evidence for significant linkage to internal carotid artery (ICA) IMT (2-point lod score = 4.1; multipoint lod score = 3.4) 161 cM from the tip of the short arm of chromosome 12. Association analysis of a single-nucleotide polymorphism (SNP) variant of SCARB1 ({601040}) showed a protective association of a missense variant allele in exon 1, with decreased ICA IMT compared with subjects homozygous for the common allele. The SCARB1 variant did not, however, account for the observed linkage." +608448,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease and ulcerative colitis, see IBD1 ({266600})." +608456,"Autosomal recessive colorectal adenomatous polyposis is a disorder characterized by adult-onset of multiple colorectal adenomas and adenomatous polyposis. Affected individuals have a significantly increased risk of colorectal cancer (summary by {8:Sieber et al., 2003}).\n\n{4:Cheadle and Sampson (2003)} reviewed the molecular pathology and biochemistry of MYH colonic polyposis.\n\nFor a discussion of genetic heterogeneity of FAP, see {175100}." +608462,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}." +608470,"Reis-Bucklers corneal dystrophy (CDRB) is an autosomal dominant disorder of the superficial corneal stroma that manifests as recurrent corneal erosions in early childhood. Affected individuals develop corneal opacities that result in significant visual impairment. Microscopically, CDRB may be differentiated from other forms of corneal dystrophy by confluent opacities in the Bowman layer and subepithelium, which are the product of extracellular bodies that stain red with Masson trichrome stain and appear as crystalloid rod-shaped bodies on transmission electron microscopy (summary by {14:Tanhehco et al., 2006})." +608471,"Lattice corneal dystrophy type IIIA (CDL3A) is an autosomal dominant condition characterized by amyloid accumulation in the corneal stroma. It is clinically manifest as the presence of thick ropy lattice lines in the cornea. Recurrent erosions are common. Onset occurs between 70 and 90 years of age ({3:Yamamoto et al., 1998})." +608474,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see ({160700})." +608509,"{1:El-Shanti et al. (2003)} reported 5 individuals from 2 unrelated families from Jordan with alopecia universalis congenita, gonadal dysgenesis, and laryngomalacia that persisted beyond infancy. The proband from the first family was a 9.5-year-old girl who was noted to have alopecia universalis at birth. She had ambiguous genitalia with labial adhesions with an enlarged clitoris, and was thus assigned a female gender. At 2 months of age she was diagnosed with a urogenital sinus and vaginouretheral fistula. A uterus and 1 fallopian tube were identified. She had small stature with low weight and head circumference more than 2 SD below the mean. At 8 years, her full-scale IQ was 81. At 9 years she was diagnosed with epilepsy. Peripheral blood karyotype was 46 XY, with positive SRY. A 7-year-old first cousin of the proband weighed 2.5 kg at term and was noted to have alopecia universalis. He had a 1-cm phallus with chordee and an empty scrotum, and was thus assigned a male gender. He had bilateral cryptorchidism and at 3 years a left testis was fixed to the scrotal wall and the right testis was removed. Growth had been satisfactory with height, weight, and head circumference at the 10th percentile. Peripheral blood karyotype was 46 XY, with positive SRY. An unrelated family reported by {1:El-Shanti et al. (2003)} had 3 affected children. The oldest died at 7 years during take-down of a tracheostomy. She was noted to have alopecia universalis at birth. She had ambiguous genitalia with labial adhesions and an enlarged clitoris, and thus female gender was assigned. Peripheral blood karyotype eventually showed 46 XY, with positive SRY. She had laryngomalacia and growth delay, with height, weight, and head circumference more than 2 SD below the mean. She was diagnosed with growth hormone deficiency and started receiving replacement therapy to which she responded well. No uterus or fallopian tubes were visualized by pelvic ultrasound at 1 year of age. At age 6.5 years she developed severe pneumonia and required artificial ventilation followed by difficulty in extubation. She required a tracheostomy, which was followed up regularly without major complications. At the age of 7 years, she had gallbladder surgery for cholelithiasis. Intellect was intact, and MRI of brain was normal. She had lifelong asymptomatic thrombocytopenia with a platelet count persistently less than 100,000. The second girl in this family died at 1 week of age from complications of intestinal obstruction surgery. She was a full-term product of an uneventful pregnancy, labor and delivery, and was noted to have alopecia universalis at birth. She had inspiratory stridor attributed to laryngomalacia, and ambiguity of the sexual organs was noted. She also had intestinal obstruction designated intraoperatively as ileal atresia. The third affected child in this family was 20 months of age at time of report. She had a birth weight of 3.1 kg after an uncomplicated full-term pregnancy. She had scalp hair at birth but it fell out gradually at the age of 1 month. At 20 months, she had sparse, thin blond scalp hair. She continued to have faint eyebrows and sparse eyelashes. She had ambiguous genitalia with labial adhesions and enlarged clitoris, and thus female gender was assigned. Inspiratory stridor was noticed only during excessive crying or during an upper respiratory tract infection. Her growth had been normal. Peripheral blood karyotype was 46 XY, with positive SRY. Thus, all patients in these 2 pedigrees had alopecia universalis congenita, laryngomalacia, and gonadal dysgenesis with an XY karyotype and SRY positivity. Some had short stature and growth hormone deficiency and the majority had ambiguous female genitalia. {1:El-Shanti et al. (2003)} concluded that the patients had a novel autosomal recessive phenotype." +608526,"For a phenotypic description and a discussion of genetic heterogeneity of aggressive periodontitis, see {170650}." +608537,"The protein products of the VHL gene play a role in the oxygen-sensing pathway, in microtubule stability and orientation, tumor suppression, cilia formation, regulation of senescence, cytokine signaling, collagen IV (see {120130}) regulation, and assembly of a normal extracellular fibronectin matrix (summary by {73:Nordstrom-O'Brien et al., 2010})." +608540,"Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor and mental retardation. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol or the endoplasmic reticulum (ER), as well as defects involving the transfer of oligosaccharides onto nascent glycoproteins. Type II CDG comprises all defects of further trimming and elongation of N-linked oligosaccharides in the ER and Golgi ({7:Schwarz et al., 2004}).\n\nCDG1K is a type I CDG characterized by predominant neurologic involvement. Survival ranges from the second day of life to adulthood. The liver is affected in a minority of patients and shows hepatomegaly, edema, ascites, cholestatic jaundice, portal hypertension, and Budd-Chiari syndrome (summary by {6:Marques-da-Silva et al., 2017}).\n\nFor a general discussion of CDGs, see CDG1A ({212065})." +608542,"Intracranial berry aneurysms are saccular outpouchings of the intracranial arteries, most commonly at arterial bifurcations, characterized by arterial wall remodeling. Most cases of ruptured intracranial berry aneurysms result in a subarachnoid hemorrhage, associated with high morbidity and mortality (summary by {2:van der Voet et al., 2004}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800})." +608545,"{2:Pierquin et al. (1991)} reported the cases of 2 unrelated children with similar clinical features, particularly facial dysmorphism and multiple joint dislocations, suggesting the diagnosis of Larsen syndrome ({150250}). Both carried an inherited unbalanced translocation resulting in partial trisomy 1q and partial monosomy 6p. Skin collagen showed a decreased alpha-1/alpha-2 chain ratio in type I collagen (see {120150}). {2:Pierquin et al. (1991)} suggested that both patients had a mutation in a gene involved in collagen production which is located either on chromosome 1q or, more likely, on 6p.\n\nChromosome 6 likewise came under suspicion in the family reported by {1:James et al. (2003)}. The proband, a child with Larsen-like features and severe developmental delay, had an unbalanced translocation resulting in a distal 6p deletion and proximal trisomy 10q. The father and an unaffected older brother had a balanced form of the translocation, t(6;10)(p25;q25.2). {1:James et al. (2003)} suggested that the 2 translocation patients reported by {2:Pierquin et al. (1991)} and their patient supported the possibility of a locus responsible for a Larsen-like phenotype determined by genes in the distal 6p region. Their case had a more distal breakpoint, refining the potential critical region." +608553,"Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by {7:Koenekoop et al., 2012}). NMNAT1 mutations have been observed to cause severe and rapidly progressive macular degeneration, leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve ({10:Perrault et al., 2012}). Some patients present with later onset and milder phenotype than typical LCA ({8:Kumaran et al., 2021}).\n\nFor a general discussion of the phenotypic and genetic heterogeneity in Leber congenital amaurosis, see LCA1 ({204000})." +608556,"Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by {1:Hawn et al., 2003})." +608557,"For a discussion of the genetic heterogeneity of myocardial infarction, see MCI1 ({608446})." +608562,"For a phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.\n\n{1:Galjaard et al. (2003)} described an autosomal dominant postaxial polydactyly and partial cutaneous syndactyly syndrome in a 31-member, 6-generation Dutch kindred with 11 affected individuals. Although the PAPA phenotype predominated, the expression of the polydactyly and syndactyly phenotypes was variable with respect to involvement of upper/lower limbs, right/left sides, PAPA and/or PAPB phenotype expression, interdigital space (IDS), and extent of syndactyly, especially in 2 branches of the family. No other associated anomalies were observed. {1:Galjaard et al. (2003)} performed a whole-genome screen in this family and detected positive lod scores for markers on chromosome 7q, with a maximum 2-point lod score of 3.18 at theta = 0 with D7S1799. Individuals with PAPA/B and one with partial cutaneous syndactyly of IDS2 shared a common haplotype between markers D7S1799 and D7S495 (50 cM). They also shared a haplotype between GATA63F08 and D7S2513 (3.7 cM) with 2 clinically normal individuals and a patient with only syndactyly. {1:Galjaard et al. (2003)} concluded that PAP and syndactyly in this family are genetically heterogeneous with high penetrance, the only nonpenetrant individual being the patient with the PAPB-only phenotype." +608567,"The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors, in which case it is considered to be a congenital disorder ({1:Benson et al., 2003}).\n\n<Subhead> Genetic Heterogeneity of Sick Sinus Syndrome\n\nSick sinus syndrome-2 (SSS2; {163800}) is caused by mutation in the HCN4 gene ({605206}). Susceptibility to sick sinus syndrome-3 (SSS3; {614090}) is influenced by variation in the MYH6 gene ({160710}). Sick sinus syndrome-4 (SSS4; {619464}) is caused by mutation in the GNB2 gene ({139390})." +608571,"{1:Morava et al. (2003)} described a 3-generation family with variable expression of ulnar/fibular hypoplasia, brachydactyly, ulnar ray defects, and short stature. The proband had ulnar hypoplasia with missing fourth and fifth fingers, fibular hypoplasia on the right, bilateral clubfeet, growth retardation, a hypoplastic midface, atrial septal defect, and hemangiomas. She had normal mammary tissue and normal sweating. The mother had short stature, midfacial hypoplasia, a hypoplastic ulna, and hypoplasia of the fourth metacarpal (brachydactyly) on the right without other associated malformations. The maternal grandfather had mild bilateral fibular hypoplasia and midphalangeal brachydactyly of the fourth and fifth toes. His sister had mild short stature and shortening of the fourth metacarpal of the left hand. Two-point linkage analysis with microsatellite markers spanning the ulnar-mammary syndrome ({181450}) locus at 12q24.1 did not confirm linkage. {1:Morava et al. (2003)} suggested that the patients in this family may have a previously undescribed syndrome." +608572,"Burn-McKeown syndrome is a rare condition in which individuals with normal intellectual development exhibit the characteristic combination of choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears (summary by {6:Wieczorek et al., 2014})." +608580,"The MYH16 gene, encoding a sarcomeric myosin heavy chain expressed in nonhuman primate masticatory muscles, is inactivated in humans. {2:Stedman et al. (2004)} hypothesized that the decrement in masticatory muscle size caused by the inactivation of MYH16 removed an evolutionary constraint on encephalization in early man." +608583,"Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\n<Subhead> Genetic Heterogeneity of Familial Atrial Fibrillation\n\nATFB1 shows linkage to chromosome 10q22-q24. ATFB2 ({608988}) maps to chromosome 6q. ATFB3 ({607554}) is caused by mutation in the KCNQ1 gene ({607542}) on chromosome 11. ATFB4 ({611493}) is caused by mutation in the KCNE2 gene ({603796}) on chromosome 21. Variants in a region of chromosome 4q25 are associated with ATFB5 ({611494}). ATFB6 ({612201}) is caused by mutation in the NPPA gene ({108780}) on chromosome 1p36. ATFB7 ({612240}) is caused by mutation in the KCNA5 gene ({176267}) on chromosome 12p13. ATFB8 ({613055}) maps to chromosome 16q22. ATFB9 ({613980}) is caused by mutation in the KCNJ2 gene ({600681}) on chromosome 17q24.3. ATFB10 ({614022}) is caused by mutation in the SCN5A gene ({600163}) on chromosome 3p21. ATFB11 ({614049}) is caused by mutation in the GJA5 ({121013}) gene on chromosome 1q21.1. ATFB12 ({614050}) is caused by mutation in the ABCC9 gene ({601439}) on chromosome 12p12.1. ATFB13 ({615377}) is caused by mutation in the SCN1B gene ({600235}) on chromosome 19q13. ATFB14 ({615378}) is caused by mutation in the SCN2B gene ({601327}) on chromosome 11q23. ATFB15 ({615770}) is caused by mutation in the NUP155 gene ({606694}) on chromosome 5p13. ATFB16 (see {613120}) is caused by mutation in the SCN3B gene ({608214}) on chromosome 11q24. ATFB17 (see {611819}) is caused by mutation in the SCN4B gene ({608256}) on chromosome 11q23. ATFB18 ({617280}) is caused by mutation in the MYL4 gene ({160770}) on chromosome 17q21.\n\n{4:Olesen et al. (2014)} analyzed 192 Danish Caucasian patients with onset of lone atrial fibrillation before the age of 40 years for the presence of rare variants in 14 AF-associated genes and found that 29 (7.6%) alleles harbored a very rare variant (minor allele frequency less than 1%), a significantly higher percentage than that found in 6,503 individuals in the NHLBI Exome Variant Server database (4.1%; p = 0.0012). Twenty-four of the 29 rare variants found in the lone AF patient cohort had previously been studied, with 23 (96%) showing abnormal ion channel function by patch-clamp analysis. {4:Olesen et al. (2014)} suggested that rare variants in AF susceptibility genes may play a role in the pathophysiology of AF." +608584,"Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis ({3:Laitinen et al., 2001}; {2:Illig and Wjst, 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}." +608586,"For a phenotypic description and a discussion of genetic heterogeneity of keratoconus, see {148300}." +608594,"Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia ({12:Garg, 2004}).\n\n<Subhead> Genetic Heterogeneity of Congenital Generalized Lipodystrophy\n\nAlso see CGL2 ({269700}), caused by mutation in the BSCL2 gene ({606158}); CGL3 ({612526}), caused by mutation in the CAV1 gene ({601047}); and CGL4 ({613327}), caused by mutation in the PTRF gene ({603198})." +608600,"Familial partial lipodystrophy type 1 (FPLD1), or Kobberling-type lipodystrophy, is characterized by loss of adipose tissue confined to the extremities, with normal or increased distribution of fat on the face, neck, and trunk ({3:Kobberling and Dunnigan, 1986}).\n\nFor a general description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see {151660}." +608612,"Mandibuloacral dysplasia with type B lipodystrophy (MADB) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. Some patients have a progeroid appearance. Metabolic complications associated with insulin resistance have been reported ({6:Schrander-Stumpel et al., 1992}; summary by {7:Simha et al., 2003}).\n\nFor a general phenotypic description of lipodystrophy associated with mandibuloacral dysplasia, see MADA ({248370})." +608622,"Hypertension is a significant risk factor for cardiac and renal disease, arteriosclerosis, retinopathy, and stroke. Systolic hypertension reflects an increase in the force of cardiac contraction, whereas diastolic hypertension reflects an increase in peripheral vascular resistance. Normalization of blood pressure is associated with reductions in morbidity and mortality related to end-organ damage." +608624,"{1:Rozendaal et al. (2003)} reported 2 brothers born to consanguineous parents who presented with hypotonia and hypoglycemia in the neonatal period and later developed obesity and developmental delay. They had brachydactyly and similar facial features, including a prominent forehead, low nasal bridge, midface hypoplasia, full lips, a small mouth, and small, low-set ears with overfolded helices. Their sister had mild developmental delay and obesity. No additional anomalies were found, and metabolic investigations, including peroxisomal functions, were normal. The authors suggested that the patients had a previously unreported condition with an autosomal recessive or X-linked mode of inheritance." +608631,"Asperger syndrome is considered to be a form of childhood autism (see, e.g., {209850}). The DSM-IV ({1:American Psychiatric Association, 1994}) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. {3:Gillberg et al. (2001)} described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.\n\nFor a discussion of genetic heterogeneity of Asperger syndrome, see ASPG1 ({608638})." +608633,"Caspase are proteases that function in apoptosis and inflammatory cascades. CASP12 belongs to the inflammatory caspase subfamily and is expressed in all mammals except humans, where it has acquired multiple mutations. Most notably, a SNP introduces a premature stop codon in exon 4 in the majority of the population. However, in 20% of African descendants, an arginine replaces the premature stop codon in exon 4 ({608633.0001}), allowing expression of a full-length CASP12 protein. Expression of full-length CASP12 is associated with susceptibility to infection and sepsis (summary by {9:Yeretssian et al., 2009}).\n\nThe mouse Casp12 gene encodes a protein that may be functionally equivalent to human CASP4 ({602664}), which is also homologous to mouse Casp11. See {602664} for information on human CASP4 and mouse Casp11." +608636,"The features of the chromosome 15q11-q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems ({3:Bundey et al., 1994}; {4:Burnside et al., 2011}).\n\nSee also chromosome 15q13.3 deletion syndrome ({612001}) and chromosome 15q11.2 deletion syndrome ({615656}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +608638,"Asperger syndrome is considered to be a form of childhood autism (see, e.g., {209850}). The DSM-IV ({1:American Psychiatric Association, 1994}) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. {6:Gillberg et al. (2001)} described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Asperger Syndrome\n\nASPG1 maps to chromosome 3q. Other autosomal loci include ASPG2 ({608631}) on chromosome 17p, ASPG3 ({608781}) on 1q21-q22, and ASPG4 ({609954}) on 3p24-p21.\n\nTwo X-linked forms, ASPGX1 ({300494}) and ASPGX2 ({300497}), are associated with mutation in the NLGN3 gene ({300336}) and the NLGN4 gene ({300427}), respectively." +608643,"Aromatic L-amino acid decarboxylase deficiency (AADCD) is an autosomal recessive inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency ({1:Abeling et al., 2000}). The disorder is clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction, usually beginning in infancy or childhood (summary by {4:Brun et al., 2010})." +608644,"Primary ciliary dyskinesia (PCD; CILD) is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (summary by {1:Afzelius, 1976}; {2:El Zein et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 ({244400})." +608646,"For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 ({244400})." +608647,"Primary ciliary dyskinesia-5 (CILD5) is an autosomal recessive disorder characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus (summary by {4:Olbrich et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +608649,"Ichthyosis prematurity syndrome (IPS) is a rare subtype of autosomal recessive congenital ichthyosis, a clinically and genetically heterogeneous group of inherited keratinization disorders. IPS presents with complications at midtrimester of pregnancy leading to prematurity, a thick caseous and desquamating skin, respiratory complications, and persistent eosinophilia. Skin features evolve into a flat follicular hyperkeratosis with atopy ({5:Klar et al., 2004})." +608653,"DFNB32 is characterized by prelingual progressive moderate to profound sensorineural deafness. Some affected men are infertile, and semen analysis has shown high percentages of immotile sperm with abnormal morphology ({2:Imtiaz et al., 2018})." +608656,"For a general discussion of hereditary prostate cancer, see {176807}." +608658,"For a general discussion of hereditary prostate cancer, see {176807}." +608670,"{2:Gurrieri et al. (2001)} reported a brother and sister with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by mild to moderate psychomotor delay, Robin sequence, distinctive facial appearance, and brachydactyly. {1:Gurrieri et al. (2004)} observed 2 unrelated patients with similar features, including the same facial appearance, Robin sequence, and brachydactyly." +608681,"Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 ({277300})." +608687,"SCA20 is an autosomal dominant adult-onset disorder characterized by dysarthria due to spasmodic dysphonia followed by slowly progressive ataxia (summary by {2:Knight et al., 2004}).\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +608688,"AICA-ribosuria is characterized by severe to profound global neurodevelopmental impairment, severe visual impairment due to chorioretinal atrophy, ante-postnatal growth impairment, and severe scoliosis. Dysmorphic features include coarse facies and upturned nose. Early-onset epilepsy may occur. Less common features may include aortic coarctation, chronic hepatic cytolysis, minor genital malformations, and nephrocalcinosis ({4:Ramond et al., 2020})." +608695,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}.\n\n{1:Wiggs et al. (2004)} identified 25 pedigrees with typical juvenile-onset primary open angle glaucoma (JOAG), demonstrating autosomal dominant inheritance. They sequenced the myocilin gene (MYOC; {601652}) in probands from each family and found mutations in 8%. To identify novel genes responsible for JOAG, they used families that did not have myocilin mutations for a genomewide screen. Multipoint linkage analysis of chromosome 9 markers achieved a peak hlod score of 4.0 between markers D9S1803 and D9S196 on chromosome 9q22. Critical recombinants identified a 9-cM region between markers D9S1841 and D9S271." +608696,"For a general phenotypic description and a discussion of genetic heterogeneity of open angle glaucoma (POAG), see {137760}." +608703,"For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +608709,"Acquired partial lipodystrophy is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities (summary by {12:Misra et al., 2004}). The disorder is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by {6:Hegele et al., 2006}). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1).\n\nThere is an association between APLD and autoimmune diseases ({11:Misra and Garg, 2003}; {12:Misra et al., 2004}), and a subset of patients have APLD associated with low serum complement component C3 and the autoantibody C3 nephritic factor, with or without membranoproliferative glomerulonephritis (APLDC3; {613913}).\n\nAcquired partial lipodystrophy is distinct from inherited forms of partial lipodystrophy, which are metabolic disorders that show clear mendelian inheritance (see, e.g., FPLD1, {608600})." +608710,"Granulomatosis with polyangiitis, formerly termed Wegener granulomatosis, is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera. These ANCAs are antibodies to a defined target antigen, proteinase-3 (PR3, PRTN3; {177020}), which is present within primary azurophil granules of neutrophils (PMNs) and lysozymes of monocytes. On cytokine priming of PMNs, PR3 translocates to the cell surface, where PR3-ANCAs can interact with their antigens and activate PMNs. PMNs from patients with active GPA express PR3 on their surface, produce respiratory burst, and release proteolytic enzymes after activation with PR3-ANCAs. The consequence is a self-sustaining inflammatory process ({2:Jagiello et al., 2004})." +608716,"Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by {20:Woods et al., 2005}; {17:Saadi et al., 2009}; {11:Passemard et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 ({251200})." +608720,"For a phenotypic description and a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 ({162400}).\n\n{1:Sakae et al. (2001)} reported 3 Japanese sibs, 1 male and 2 females, who were affected with an adult-onset form of sensory and autonomic neuropathy. The proband, the most severely affected of the sibs, noticed difficulty in smelling and tasting around the age of 24 years and loss of sweating at age 40 years. Also in her forties, she developed loss of sensation in the hands and feet. Physical examination showed severe anosmia, ageusia, anhidrosis, and orthostatic hypotension. Both superficial and deep sensation were severely impaired in the fingers and toes, and a sural nerve biopsy showed marked loss of myelinated fibers and axonal degeneration. Her 2 sibs developed anosmia and subsequent anhidrosis around age 50 years. Both also showed orthostatic hypotension, but only 1 sib had decreased distal sensation. Both had normal taste sensation. {1:Sakae et al. (2001)} characterized the disorder as a distinct form of hereditary sensory and autonomic neuropathy, and suggested that there may be a causative gene involved in the survival of sensory and sympathetic ganglion cells." +608728,"The Borochowitz-Cormier-Daire type of spondyloepimetaphyseal dysplasia (SEMDBCD) is a rare type of autosomal recessive short-limb short-trunk dwarfism. Affected individuals have significant short stature with pronounced leg bowing, lumbar lordosis, and a waddling gait (summary by {1:Borochowitz et al., 2004} and {2:Shyamasundar et al., 2020})." +608762,"For a general phenotypic information and a discussion of genetic heterogeneity of idiopathic generalized epilepsy (EIG), see {600669}." +608763,"{1:Beasley and Cohen (1979)} described a family they considered to have a novel form of presumably autosomal recessive EDS. Two of 7 sibs in a consanguineous Chinese family were affected. The proband was a 25-year-old man with hyperextensible joints, bilateral inguinal hernias, hyperelastic skin, chronically dislocated left hip, and 'lop' ears. The sister of the proband had most of the same physical findings as her brother, including narrow face, small eyes, and midface deficiency that differed from unaffected family members. Audiogram revealed moderate hearing reduction at all frequencies. She had apparent cataracts. Both sibs were mentally retarded. Easy bruisability, difficulty with wound healing, prominent veins, pseudotumors, and elastosis perforans were not present; scarring was minimal and sclerae were normal. Dermal collagen studies suggested that levels of procollagen peptidase and lysyl hydroxylase were normal." +608765,"Idiopathic scoliosis, an abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees, affects approximately 2 to 3% of the worldwide population and has a heritable component (summary by {1:Bashiardes et al., 2004}).\n\nFor a discussion of genetic heterogeneity of isolated scoliosis, see IS1 ({181800})." +608776,"Congenital disorders of glycosylation (CDGs) that represent defects of dolichol-linked oligosaccharide assembly are classified as CDG type I. For a general description and a discussion of the classification of CDGs, see CDG1A ({212065})." +608779,"CDG IIe is caused by a mutation that impairs the integrity of the conserved oligomeric Golgi (COG) complex and alters Golgi trafficking, resulting in the disruption of multiple glycosylation pathways.\n\nFor a general discussion of CDGs, see CDG1A ({212065})." +608781,"Asperger syndrome is considered to be a form of childhood autism (see, e.g., {209850}). The DSM-IV ({1:American Psychiatric Association, 1994}) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. {2:Gillberg et al. (2001)} described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.\n\nFor a discussion of genetic heterogeneity of Asperger syndrome, see ASPG1 ({608638})." +608782,"Pyruvate dehydrogenase phosphatase deficiency (PDHPD) is an autosomal recessive disorder of pyruvate metabolism characterized by neonatal/infantile and childhood lactic acidosis, normal lactate to pyruvate ratio, elevated plasma alanine, delayed psychomotor development, epileptic encephalopathy, and hypotonia (summary by {1:Bedoyan et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pyruvate dehydrogenase (PDH) deficiency, see {312170}." +608787,"For a phenotypic description and a discussion of the genetic heterogeneity of otosclerosis, see OTSC1 ({166800}).\n\nIn a Dutch pedigree segregating autosomal dominant otosclerosis over 4 generations, {1:Van Den Bogaert et al. (2004)} found linkage to an interval on chromosome 3q22-q24, with a maximum 2-point lod score of 3.46 (theta = 0.05) for marker D3S1569. Recombination events delineated a 15.5-Mb candidate interval between markers D3S1292 and D3S1744." +608796,"In moyamoya disease, stenosis of the intracranial portion of the internal carotid artery leads to secondary establishment of intracranial compensatory anastomoses at different levels (leptomeninges, basal ganglia, and transdural) (summary by {1:Sakurai et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350})." +608799,"Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin.\n\nFor a general discussion of CDGs, see CDG Ia ({212065}) and CDG Ib ({602579})." +608800,"Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is characterized by sudden cardiac or respiratory arrest, disordered testicular development, and neurologic dysfunction, and is uniformly fatal before 1 year of age ({2:Slater et al., 2020})." +608805,"Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by {11:Mont and Hungerford, 1995}).\n\n<Subhead> Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head\n\nANFH2 is caused by mutation in the TRPV4 gene ({605427}) on chromosome 12q24.\n\nMutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; {150600}), a form of ANFH in growing children." +608808,"The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) ({2:Goldmuntz et al., 2002}). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required." +608809,"{1:Bonkowsky et al. (2004)} reported 2 brothers with leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia. Both presented initially with seizures in the early postnatal period. Examined at ages 6 and 3, respectively, they exhibited significant developmental delay, and brain MRIs showed leukoencephalopathy characterized by profound hypomyelination. They developed arthritis, for which 1 brother required chronic treatment, and persistent intermittent diarrhea, necessitating treatment for inflammatory bowel disease. Multiple hospitalizations for sepsis prompted an immunologic analysis which revealed IgG1-subclass hypogammaglobulinemia and low B-cell levels. There was no family history of similar problems, and the brothers had an unaffected brother. Extensive investigations failed to uncover an underlying metabolic or genetic abnormality. {1:Bonkowsky et al. (2004)} stated that this constellation of symptoms represents a unique syndrome, which they symbolized LACH." +608810,"Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families ({1:Fardeau et al., 1978}; {3:Selcen and Engel, 2003}).\n\nA homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see {613869}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 ({601419})." +608816,"For general phenotypic information and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}." +608831,"Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation ({1:Bonati et al., 2003}).\n\nFor additional information and a discussion of genetic heterogeneity of restless legs syndrome, see RLS1 ({102300})." +608836,"Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The neonatal form presents shortly after birth with respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. This form is rapidly fatal (summary by {8:Longo et al., 2006}).\n\nSee also the infantile ({600649}) and adult-onset ({255110}) forms of the disorder, which are also caused by mutation in the CPT2 gene." +608840,"MDDGB6 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities ({3:Longman et al., 2003}). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({4:Mercuri et al., 2009}).\n\nFor a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 ({613155})." +608850,"For a general phenotypic description and a discussion of genetic heterogeneity of MCDR, see MCDR1 ({136550})." +608864,"Orofacial cleft-6 (OFD6) is characterized by isolated cleft lip or cleft palate or by cleft lip and cleft palate ({5:Rahimov et al., 2008}; {4:Pan et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see {119530}." +608875,"Natural variation in gene expression is extensive, and variation in the baseline expression level of many genes has a heritable component. To localize the genetic determinants of these quantitative traits (gene expression phenotypes), {1:Morley et al. (2004)} used microarray analysis to measure gene expression levels and performed genomewide linkage analysis for expression levels of 3,554 genes in 14 large CEPH families. They identified 142 expression phenotypes with evidence of linkage to a regulatory region that exceeded a P value of less than 4.3 x 10(-7), which corresponds to a lod score of about 5.3. Of these 142, 27 (19%) had only a cis-acting transcriptional regulator, 110 (77.5%) had only a trans-acting regulator, and 5 (3.5%) had 2 regulators (2 phenotypes with a cis- and a trans-acting regulator, and 3 phenotypes with 2 trans-acting regulators). When {1:Morley et al. (2004)} lowered the threshold of linkage to a P value of less than 3.7 x 10(-5), which corresponds to a lod score of about 3.4, they identified 984 expression phenotypes. Among these 984, 164 (16%) had multiple regulators of expression level, a much higher percentage than the 3.5% found using the more stringent threshold. Furthermore, {1:Morley et al. (2004)} identified hotspots of transcriptional regulation where significant evidence of linkage for several expression phenotypes coincided, and expression levels of many genes sharing the same regulatory region were significantly correlated. They identified 2 hotspots for transcriptional regulation with 6 or more hits (P less than 0.03 after Bonferroni correction): chromosome 14q32 (GEVQ1), where 7 phenotypes mapped, and chromosome 20q13 (GEVQ2; {608878}), where 6 phenotypes mapped. Using the less stringent criteria, 31 of the 984 expression phenotypes mapped to the 5-Mb window on chromosome 14, and regulation for 25 phenotypes mapped to the 5-Mb window on chromosome 20." +608878,"Natural variation in gene expression is extensive, and variation in the baseline expression level of many genes has a heritable component. To localize the genetic determinants of these quantitative traits (gene expression phenotypes), {1:Morley et al. (2004)} used microarray analysis to measure gene expression levels and performed genomewide linkage analysis for expression levels of 3,554 genes in 14 large CEPH families. They identified 142 expression phenotypes with evidence of linkage to a regulatory region that exceeded a P value of less than 4.3 x 10(-7), which corresponds to a lod score of about 5.3. Of these 142, 27 (19%) had only a cis-acting transcriptional regulator, 110 (77.5%) had only a trans-acting regulator, and 5 (3.5%) had 2 regulators (2 phenotypes with a cis- and a trans-acting regulator, and 3 phenotypes with 2 trans-acting regulators). When {1:Morley et al. (2004)} lowered the threshold of linkage to a P value of less than 3.7 x 10(-5), which corresponds to a lod score of about 3.4, they identified 984 expression phenotypes. Among these 984, 164 (16%) had multiple regulators of expression level, a much higher percentage than the 3.5% found using the more stringent threshold. Furthermore, {1:Morley et al. (2004)} identified hotspots of transcriptional regulation where significant evidence of linkage for several expression phenotypes coincided, and expression levels of many genes sharing the same regulatory region were significantly correlated. They identified 2 hotspots for transcriptional regulation with 6 or more hits (P less than 0.03 after Bonferroni correction): chromosome 14q32 (GEVQ1; {608875}), where 7 phenotypes mapped, and chromosome 20q13 (GEVQ2), where 6 phenotypes mapped. Using the less stringent criteria, 31 of the 984 expression phenotypes mapped to the 5-Mb window on chromosome 14, and regulation for 25 phenotypes mapped to the 5-Mb window on chromosome 20." +608885,"Stomatin-deficient cryohydrocytosis with neurologic defects is an autosomal dominant disorder characterized by delayed psychomotor development, seizures, cataracts, and pseudohyperkalemia resulting from defects in the red blood cell membrane. The disorder combines the neurologic features of Glut1 deficiency syndrome-1 (GLUT1DS1; {606777}), resulting from impaired glucose transport at the blood-brain barrier, and hemolytic anemia/pseudohyperkalemia with stomatocytosis, resulting from a cation leak in erythrocytes (summary by {1:Bawazir et al., 2012}).\n\nFor a discussion of clinical and genetic heterogeneity of red cell stomatocyte disorders, see {194380}." +608890,"Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by {2:Read and Newton, 1997}). WS type 2D is caused by mutation in the SNAI2 gene ({602150}). Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580})." +608895,"Age-related macular degeneration-3 (ARMD3) is characterized by numerous small round yellow lesions visible at the temporal edge of the macula. Larger, less distinct yellow areas near the center of the macula are also observed, which represent areas of pigment epithelial detachment ({2:Stone et al., 2004}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see {603075}." +608898,"Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin ({170280})-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see {267700}." +608901,"For a discussion of genetic heterogeneity of coronary heart disease (CHD), see {607339}." +608908,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +608911,"Choanal atresia is a threat to life because young infants cannot establish the habit of mouth breathing. About 8% of cases are familial ({5:Gorlin, 1982}). It is probably a multifactorial trait like cleft lip and cleft palate. The fact that both affected successive generations and affected single generations have been reported supports this ({9:Lang, 1912}; {11:Phelps, 1926}; {10:McGovern, 1950}). {14:Ransome (1964)} found 12 families with 2 or more members affected. One of these, in which 4 of 5 sibs were affected, was described by him. Most reports of multiple affected relatives have concerned sibs. However, affected persons in the family reported by {9:Lang (1912)} included, in addition to the proband, the mother, sister and maternal aunt and perhaps a brother. {3:Fendel (1966)} described affected sibs. {6:Grahne and Kaltiokallio (1966)} observed affected sisters. The condition is said to occur twice as often in girls as in boys and more frequently in the right side than the left side.\n\nPCA has been observed with the Treacher Collins syndrome ({154500}) and with hyperostotic dwarfism ({151050}). {16:Shashi et al. (1994)} described choanal atresia in a patient with the deletion 9p syndrome (9p- syndrome; {158170}) and found a previous report of this association. {15:Shashi et al. (1998)} reported a third case of deletion 9p with choanal atresia.\n\n{8:Harris et al. (1997)} examined data from 3 large registries of congenital malformations and identified 444 infants with choanal atresia, for an average rate of 0.82 affected per 10,000 births. No statistically significant difference in rate was noted for race, sex, maternal age or parity, or laterality in unilateral cases; however, a slightly increased risk at twinning was noted. An analysis of associated malformations, present in 47% of the infants without chromosome anomalies, indicated that a weak, nonrandom association can be demonstrated between the malformations of the CHARGE complex ({214800}). If the definition of CHARGE is the presence of 3 or more malformations, then of the 444 infants identified, 7% belonged to the CHARGE constellation. {8:Harris et al. (1997)} concluded that for the term CHARGE to be meaningful, it should be restricted to infants with multiple malformations and choanal atresia and/or coloboma, combined with other cardinal malformations (heart, ear, and genital), for a total of at least 3 cardinal malformations; growth retardation, especially low birth weight, should not be used in the definition.\n\n{7:Greenberg (1987)} described the association of choanal atresia and absent nipples, athelia ({113700}), in an infant girl born to a woman treated for hyperthyroidism throughout pregnancy with methimazole and propranolol. The question of methimazole teratogenicity was raised. {7:Greenberg (1987)} pointed out that {12:Qazi et al. (1982)} found several children with associated hypoplasia of the nipples and posterior choanal atresia. {17:Wilson et al. (1998)} also described choanal atresia and underdevelopment of the nipples as consequences of in utero exposure to methimazole given in the treatment of maternal Graves disease ({275000}). {2:Barbero et al. (2004)} described 3 patients with choanal atresia whose mothers received methimazole during pregnancy for the treatment of thyrotoxicosis.\n\n{4:Gershoni-Baruch (1992)} described a small inbred Arab Moslem kindred in which nonsyndromal choanal atresia occurred in 2 sibs and their paternal uncle. In a note added in proof, she reported the birth of a third affected sib.\n\n{13:Ramos-Arroyo et al. (2000)} reported the cases of 3 members of a family who had congenital choanal atresia; 2 of these also had maxillary hypoplasia, prognathism, and hypodontia. Four other relatives had either maxillary hypoplasia and/or prognathism.\n\n{1:Al-Gazali et al. (2002)} reported a brother and sister from an inbred Arab family with an autosomal recessive syndrome of choanal atresia, hypothelia/athelia, and thyroid gland anomalies. The sister died at 4 months of age. The authors noted that the features overlapped those of Bamforth syndrome ({241850}), HEDH syndrome ({225050}), and methimazole embryopathy." +608930,"Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor (AChR) channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by {4:Sine et al., 2003} and {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +608931,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG ({100730}) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by {7:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +608932,"For a phenotypic description and a discussion of heterogeneity of keratoconus, see {148300}." +608935,"For a phenotypic description and a discussion of genetic heterogeneity of lung cancer, see {211980}." +608940,"Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) is characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction (summary by {1:Hoover-Fong et al., 2014}).\n\n{5:Yamamoto et al. (2014)} reviewed 16 reported cases of SMDCRD, noting that all affected individuals presented uniform skeletal findings, with rhizomelia and bowed lower limbs observed in the first year of life, whereas retinal dystrophy had a more variable age of onset. There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. Visual loss was progressive, with stabilization in adolescence." +608970,"Butterfly-shaped pigmentary macular dystrophy is an autosomal dominant eye disease characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly (summary by {4:van Lith-Verhoeven et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of patterned macular dystrophy, see {169150}." +608971,"Immunodeficiency-104 (IMD104) is an autosomal recessive disorder characterized by the onset of recurrent infections in early infancy. Manifestations may include oral thrush, fever, and failure to thrive. Some patients have lymphadenopathy and hepatosplenomegaly, whereas others have absence of lymph nodes and lack a thymic shadow. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, variable hypogammaglobulinemia, and normal NK cells. The disorder is caused by a defect in IL7 ({146660}) signaling due to a mutant IL7 receptor. Hematopoietic stem cell transplantation may be curative ({6:Roifman et al., 2000} and {1:Giliani et al., 2005}).\n\n{1:Giliani et al. (2005)} provided a detailed review of IL7R deficiency, including discussion of the IL7R gene and its function in the immune system, clinical features of the disorder, and experiences with hematopoietic stem cell transplant as treatment.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see {601457}." +608982,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +608984,"Autosomal dominant sensory ataxia-1 (SNAX1) is a peripheral neuropathy resulting from the degeneration of dorsal root ganglia that affects both central and peripheral neurites of sensory neurons. Affected individuals show adult onset of slowly progressive clumsiness, gait ataxia, walking difficulties, and distal sensory loss which may be associated with abnormal sensory nerve conduction values. Some patients have vestibular ocular dysfunction. Muscle weakness and atrophy are not observed, and brain imaging is normal (summary by {1:Cortese et al., 2020})." +608988,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}." +608995,"For a phenotypic description and a discussion of genetic heterogeneity of susceptibility loci for dyslexia, see DYX1 ({127700})." +609015,"The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS; {272120}), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy ({18:Spiekerkoetter et al., 2003}).\n\nSome patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood ({4:den Boer et al., 2003}).\n\nSee also isolated LCHAD deficiency ({609016}), which is caused by mutation in the HADHA gene." +609016,"Isolated deficiency of long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) is an autosomal recessive disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death ({13:IJlst et al., 1996})." +609021,"{1:Kondo et al. (2004)} studied 3 patients from 2 pedigrees with an unusual form of cone dystrophy (see {180020}) in which the peripheral cone system was more affected than the central cone system, and whose rod system was relatively normal. The fundus examination and fluorescein angiogram results were essentially normal except for mild temporal pallor of the optic disc in 2 patients. The corrected visual acuity ranged from 20/16 to 20/100. Color vision was normal in 1 patient, but abnormal in 2 patients. A relative paracentral scotoma was detected 2 patients (3 eyes). Full-field electroretinogram (ERG) cone responses were reduced significantly, but rod responses were normal in all patients, as in patients were typical cone dystrophy. However, the focal macular cone ERGs were well preserved in all patients. Psychophysical rod-cone perimetry demonstrated that the peripheral cone system was impaired, whereas the rod sensitivity was completely normal. The results of the multifocal ERG in 2 patients supported the findings made by the full-field and focal macular ERGs. These findings demonstrated that there was a subgroup of patients with cone dystrophy in whom the peripheral cone system was more affected than the central cone system." +609026,"Age-related cataracts are one of the leading causes of visual impairment and blindness among the elderly worldwide. Among age-related cataracts, cortical opacities rank as the second most common type ({2:Iyengar et al., 2004}).\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Age-Related Cortical, 1; ARCC1.'" +609029,"Emanuel syndrome is characterized by multiple congenital anomalies, craniofacial dysmorphism, and significant developmental delay and mental retardation. Features include ear anomalies, preauricular tag or sinus, cleft or high-arched palate, micrognathia, microcephaly, kidney abnormalities, heart defects, and genital abnormalities in males (summary by {1:Carter et al., 2009}).\n\nCarriers of the balanced constitutional t(11;22) translocation are phenotypically normal but have a 10% risk of having progeny with supernumerary der(22)t(11;22) syndrome as a result of malsegregation of the der(22). The affected progeny are genotypically unbalanced because they carry the der(22) as a supernumerary chromosome--either 47,XX,+der(22)t(11;22) or 47,XY,+der(22)t(11;22) ({11:Zackai and Emanuel, 1980}; {9:Lin et al., 1986})." +609033,"Posterior column ataxia with retinitis pigmentosa is an autosomal recessive neurologic disorder characterized by childhood-onset retinitis pigmentosa and later onset of gait ataxia due to sensory loss (summary by {5:Ishiura et al., 2011})." +609037,"{1:Megarbane (2003)} reported 2 male cousins, both with consanguineous parents, who presented with severe mental retardation, microcephaly with elongated faces, seizure disorders, short stature, hypertelorism, optic atrophy, ptosis, absent ear lobes, and thin upper lips. A brain MRI of 1 cousin showed only slight bilateral ventricular dilatation and small orbits. Extensive radiologic and laboratory investigations, including karyotypes, of both cousins were normal. Clinical examination and karyotypes of both sets of parents and clinical examinations of the collective 12 sibs were normal. {1:Megarbane (2003)} suggested that the disorder may represent a newly recognized autosomal recessive MCA/MR syndrome." +609039,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}." +609047,"{1:Megarbane et al. (2004)} described what they considered to be a newly recognized autosomal recessive syndrome in a 4-year-old girl, the offspring of healthy first-cousin Lebanese parents. The features were severe pre- and postnatal short stature, low pitched voice, retinitis pigmentosa, photophobia, short neck, broad thorax, platyspondyly, rhizomelic shortening of the long bones, bilateral subluxation of the hips, advanced maturation of the epiphyses, and apparently normal intellectual development. Two subsequent pregnancies had ended in spontaneous abortion with polyhydramnios and severe growth retardation. Another daughter was alive and in good health." +609048,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {2:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of malignant melanoma, see {155600}." +609049,"Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by {12:Zenker et al., 2004}).\n\nMutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5; {614199})." +609052,"The spondylometaphyseal dysplasias are a relatively common, heterogeneous group of disorders characterized by spinal and metaphyseal changes of variable pattern and severity. The classification of spondylometaphyseal dysplasias of {2:Maroteaux and Spranger (1991)} was based on changes of the femoral neck and the shape of vertebral anomalies. In this classification, type A4 referred to a form with severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities." +609053,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +609054,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +609055,"The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure ({2:Mole et al., 2005}).\n\nFor a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 ({256730})." +609056,"Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by {6:Fragaki et al., 2013}). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by {1:Boccuto et al., 2014}). Not all patients have overt seizures ({7:Lee et al., 2016})." +609057,"Epidermolysis bullosa simplex-7 with nephropathy and deafness (EBS7) is characterized by the presence of skin blistering at birth, particularly in the tibial area but also scattered on other parts of the body, particularly those exposed to trauma. Nephropathy manifests with proteinuria (summary by {1:Has et al., 2020}).\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760})." +609060,"Combined oxidative phosphorylation deficiency is an autosomal recessive multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system. Onset occurs at or soon after birth, and features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. Death usually occurs in the first weeks or years of life (summary by {2:Smits et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Combined Oxidative Phosphorylation Deficiency\n\nSee also COXPD2 ({610498}), caused by mutation in the MRPS16 gene ({609204}) on 10q22; COXPD3 ({610505}), caused by mutation in the TSFM gene ({604723}) on 12q14; COXPD4 ({610678}), caused by mutation in the TUFM gene ({602389}) on 16p11; COXPD5 ({611719}), caused by mutation in the MRPS22 gene ({605810}) on 3q23; COXPD6 ({300816}), caused by mutation in the AIFM1 gene ({300169}) on Xq26; COXPD7 ({613559}), caused by mutation in the MTRFR gene ({613541}) on 12q24; COXPD8 ({614096}), caused by mutation in the AARS2 gene ({612035}) on 6p21; COXPD9 ({614582}), caused by mutation in the MRPL3 gene ({607118}) on 3q22; COXPD10 ({614702}), caused by mutation in the MTO1 gene ({614667}) on 6q13; COXPD11 ({614922}), caused by mutation in the RMND1 gene ({614917}) on 6q25; COXPD12 ({614924}), caused by mutation in the EARS2 gene ({612799}) on 16p13; COXPD13 ({614932}), caused by mutation in the PNPT1 gene ({610316}) on 2p16; COXPD14 ({614946}), caused by mutation in the FARS2 gene ({611592}) on 6p25; COXPD15 ({614947}), caused by mutation in the MTFMT gene ({611766}) on 15q; COXPD16 ({615395}), caused by mutation in the MRPL44 gene ({611849}) on 2q36; COXPD17 ({615440}), caused by mutation in the ELAC2 gene ({605367}) on 17p11; COXPD18 ({615578}), caused by mutation in the SFXN4 gene ({615564}) on 10q26; COXPD19 ({615595}), caused by mutation in the LYRM4 gene ({613311}) on 6p25; COXPD20 ({615917}), caused by mutation in the VARS2 gene ({612802}) on 6p21; COXPD21 ({615918}), caused by mutation in the TARS2 gene ({612805}) on 1q21; COXPD22 ({616045}), caused by mutation in the ATP5A1 gene ({164360}) on 18q12; COXPD23 ({616198}), caused by mutation in the GTPBP3 ({608536}) gene on 19p13; COXPD24 ({616239}), caused by mutation in the NARS2 gene ({612803}) on 11q14; COXPD25 ({616430}), caused by mutation in the MARS2 gene ({609728}) on 2q33; COXPD26 ({616539}), caused by mutation in the TRMT5 gene ({611023}) on 14q23; COXPD27 ({616672}), caused by mutation in the CARS2 gene ({612800}) on 13q34; COXPD28 ({616794}), caused by mutation in the SLC25A26 gene ({611037}) on 3p14; COXPD29 ({616811}), caused by mutation in the TXN2 gene ({609063}) on 22q12; COXPD30 ({616974}), caused by mutation in the TRMT10C gene ({615423}) on 3q12; and COXPD31 ({617228}), caused by mutation in the MIPEP gene ({602241}) on 13q12; COXPD32 ({617664}), caused by mutation in the MRPS34 gene ({611994}) on 16q13; COXPD33 ({617713}), caused by mutation in the C1QBP gene ({601269}) on 17p13; and COXPD34 ({617872}), caused by mutation in the MRPS7 gene ({611974}) on 17q25; COXPD35 ({617873}), caused by mutation in the TRIT1 gene ({617840}) on 1p34; COXPD36 ({617950}), caused by mutation in the MRPS2 gene ({611971}) on 9q34; COXPD37 ({618329}), caused by mutation in the MICOS13 gene ({616658}) on 19p13; COXPD38 ({618378}), caused by mutation in the MRPS14 gene ({611978}) on 1q23; COXPD39 ({618397}), caused by mutation in the GFM2 gene ({606544}) on 5q13; COXPD40 ({618835}), caused by mutation in the QRSL1 gene ({617209}) on 6q21; COXPD41 ({618838}), caused by mutation in the GATB gene ({603645}) on 4q31; COXPD42 ({618839}), caused by mutation in the GATC gene ({617210}) on 12q24; COXPD43 ({618851}), caused by mutation in the TIMM22 gene ({607251}) on 17p13; COXPD44 ({618855}), caused by mutation in the FASTKD2 gene ({612322}) on 2q33; COXPD45 ({618951}), caused by mutation in the MRPL12 gene ({602375}) on 17q25; COXPD46 ({618952}), caused by mutation in the MRPS23 gene ({611985}) on 17q22; COXPD47 ({618958}), caused by mutation in the MRPS28 gene ({611990}) on 8q21; COXPD48 ({619012}), caused by mutation in the NSUN3 gene ({617491}) on 3q11; COXPD49 ({619024}), caused by mutation in the MIEF2 gene ({615498}) on 17p11; COXPD50 ({619025}), caused by mutation in the MRPS25 gene ({611987}) on 3p25; COXPD51 ({619057}), caused by mutation in the PTCD3 gene ({614918}) on 2p11; COXPD52 ({619386}), caused by mutation in the NFS1 gene ({603485}) on 20q11; COXPD53 ({619423}), caused by mutation in the C2ORF69 gene ({619219}) on 2q33; and COXPD54 ({619737}), caused by mutation in the PRORP gene ({609947}) on 14q13." +609115,"Autosomal dominant limb-girdle muscular dystrophy-3 is characterized by slowly progressive proximal muscle weakness affecting the upper and lower limbs. Onset is usually in adulthood, but can occur during the teenage years. Affected individuals may also develop cataracts before age 50 (summary by {3:Vieira et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 ({603511})." +609122,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {3:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800})." +609128,"Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis (summary by {2:Bamshad et al., 2009}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 ({108120})." +609129,"Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease ({4:Satya-Murti et al., 1979}) and has been observed in Friedreich ataxia ({3:Satya-Murti et al., 1980}). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, {601071}.\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Auditory Neuropathy\n\nSee also AUNA3 ({619832}), caused by mutation in the TMEM43 gene ({612048}) on chromosome 3p25." +609135,"Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic ({6:Young, 2000}). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by {5:Vulliamy et al., 2002})." +609136,"PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see {118200}), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see {142623}) ({3:Inoue et al., 2004}). {3:Inoue et al. (2004)} proposed the acronym PCWH for this disorder." +609153,"'Familial pseudohyperkalemia' (PSHK) is a term that was coined to describe conditions in which a patient presents with pseudohyperkalemia as a result of a temperature-based abnormality in the transport of potassium (K) and sodium (Na) across the red cell membrane, in association with essentially normal hematology. PSHK can be considered to be the clinically benign, nonhemolytic cousin of hereditary stomatocytic leaky-cell, congenital hemolytic anemias (see {194380}) (summary by {7:Gore et al., 2002}).\n\nFor a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see {194380}." +609161,"Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia (summary by {4:Kuhlenbaumer et al., 2004}).\n\n<Subhead> Genetic Heterogeneity of Autosomal Dominant Striatal Degeneration\n\nSee also ADSD2 ({616922}), caused by mutation in the PDE10A gene ({610652}) on chromosome 6q27." +609162,"Czech dysplasia is an autosomal dominant skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes ({5:Marik et al., 2004}; {3:Kozlowski et al., 2004})." +609165,"Ichthyosis with confetti (IWC), also known as congenital reticular ichthyosiform erythroderma (CRIE), is a rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis (summary by {11:Krunic et al., 2003})." +609179,"For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 ({157300}).\n\nMigraine is the most common type of chronic episodic headache. Population-based family studies had suggested a strong genetic predisposition to migraine, especially migraine with aura (MA). GABA-A receptors (see {137192}) and their modulator sites seem to be involved in the pathophysiologic events that underlie migraine. {1:Russo et al. (2005)} reported clinical and molecular data from 10 families with MA, in which MA segregated as an autosomal dominant trait and presented with homogeneous clinical features. After excluding linkage with the known candidate loci, {1:Russo et al. (2005)} used a functional candidate approach and genotyped the 10 families with markers from the 15q11-q13 genomic region, which contains genes encoding GABA-A receptor subunits. Using a parametric 2-point linkage analysis, evidence of linkage was obtained for GABRB3 ({137192}) located at 15q11.2-q12 with a maximum lod score of 5.56 at a recombination fraction of 0.001. Linkage was supported by multipoint analysis with a maximum lod score of 6.54 between markers D15S113 and D15S1019. The critical region spans 3.6 Mb. {1:Russo et al. (2005)} concluded that their results provided the basis for further investigation of the hypothesized relationship between a GABA-A receptor dysfunction and migraine." +609180,"Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia ({212065}) and CDG Ib ({602579})." +609192,"The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by {9:Loeys et al. (2006)}, the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.\n\nLDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by {10:MacCarrick et al., 2014}).\n\n<Subhead> Nomenclature\n\nIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) ({10:MacCarrick et al., 2014}). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below).\n\n<Subhead> Genetic Heterogeneity of Loeys-Dietz Syndrome\n\nLDS1 is caused by mutation in the TGFBR1 gene. LDS2 ({610168}) is caused by mutation in the TGFBR2 gene ({190182}). LDS3 ({613795}), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene ({603109}). LDS4 ({614816}) is caused by mutation in the TGFB2 gene ({190220}). LDS5 ({615582}) is caused by mutation in the TGFB3 gene ({190230}). LDS6 ({619656}) is caused by mutation in the SMAD2 gene ({601366}).\n\n<Subhead> Reviews\n\n{10:MacCarrick et al. (2014)} provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.\n\n{15:Schepers et al. (2018)} reviewed the clinical manifestations of LDS associated with mutation in the TRFBR1/2, TGFB1/2, and SMAD2/3 genes, concluding that the LDS phenotype represents a broad spectrum that is emerging as more patients are reported. They suggested genetic testing of the LDS genes be performed in the following scenarios: patients with the typical clinical trial of hypertelorism, cleft palate/bifid uvula and arterial tortuosity/aneurysm; early-onset aortic aneurysm with variable combination of other features including arachnodactyly, camptodactyly, club feet, any type of craniosynostosis, blue sclerae, thin skin with atrophic scars, easy bruising, joint hypermobility, bicuspid aortic valve, patent ductus arteriosus, atrial and ventricular septal defects; sporadic young probands with aortic root dilatation/dissection; families with autosomal dominant thoracic aortic aneurysms, especially those families with early-onset aortic/arterial dissection or aortic disease beyond the aortic root, including cerebral arteries; patients with a Marfan syndrome (MFS; {154700})-like phenotype, especially those without ectopia lentis, but with aortic and skeletal features not fulfilling the MFS diagnostic criteria; and patients with clinical features reminiscent of vascular Ehlers-Danlos syndrome ({130050}), including thin skin with atrophic scars, easy bruising, and joint hypermobility, who have normal type III collagen biochemistry and/or normal COL3A1 ({120180}) genetic testing.\n\n<Subhead> Diagnosis\n\n{15:Schepers et al. (2018)} noted that no formal diagnostic criteria had been developed for LDS, but stated that the diagnosis is established in individuals with a heterozygous pathogenic variant in SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, or TGFBR2 who exhibit either aortic root enlargement (defined as an aortic root z-score greater than or equal to 2.0) or type A dissection, or compatible systemic features including characteristic craniofacial, skeletal, cutaneous, and/or vascular manifestations found in combination. Special emphasis should be given to arterial tortuosity, particularly of the head and neck vessels, and to aneurysms or dissections involving medium-to-large muscular arteries throughout the arterial tree." +609195,"SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive (summary by {1:Boukhris et al., 2013}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A ({270800})." +609197,"Familial isolated glucocorticoid deficiency is an adrenocortical failure characterized by very low levels of plasma cortisol despite high levels of plasma adrenocorticotropin (ACTH). Moreover, the adrenal response to ACTH is severely impaired. There is no mineralocorticoid deficiency and the renin-angiotensin system is not affected (summary by {1:Genin et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200})." +609200,"Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by {3:Foroud et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 ({601419})." +609218,"Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia ({106210}), microphthalmia (see {251600}), albinism (see {203100}), or achromatopsia (see {216900}). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by {3:Perez et al., 2014}).\n\nFor a discussion of genetic heterogeneity of foveal hypoplasia, see FVH1 ({136520})." +609227,"Griscelli syndrome type 3 (GS3) is a rare autosomal recessive disorder that results in a characteristic pigmentary dilution of the skin and hair, which shows a silvery-gray sheen associated with large clumps of pigment in hair shafts and an abnormal accumulation of end-stage melanosomes in the center of melanocytes. There are no immunologic or neurologic manifestations (summary by {3:Menasche et al., 2003}).\n\nFor a discussion of phenotypic and genetic heterogeneity in Griscelli syndrome, see GS1 ({214450})." +609241,"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease ({609242}), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations ({3:Desnick and Schindler, 2001})." +609242,"Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy ({609241}); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see {609241}) with mild to moderate neurologic manifestations ({2:Desnick and Schindler, 2001})." +609250,"{1:Green et al. (2003)} reported an Australian family in which 22 members over 4 generations had progressive patterned scalp hypotrichosis and wiry hair similar to that seen in Marie Unna hereditary hypotrichosis (MUHH; {146550}). Features differing from those of MUHH included absence of signs of abnormality at birth, relative sparing of body hair, distal onycholysis, and intermittent cosegregation with autosomal dominant cleft lip and palate. Five individuals had associated cleft lip and palate. {1:Green et al. (2003)} excluded linkage of the disorder in the Australian family to the MUHH locus on chromosome 8p21." +609253,"For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 ({121210})." +609254,Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see {256100}) and Leber congenital amaurosis (LCA; see {204000}). +609255,"For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 ({121210})." +609256,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {2:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +609257,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {2:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +609258,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {2:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +609259,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {2:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +609260,"Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a slow motor median nerve conduction velocity (NCV) (less than 38 m/s), and type 2, the axonal form, with a normal or slightly reduced NCV. Distal hereditary motor neuropathy (dHMN), also known as spinal CMT, is a third type of CMT characterized by normal motor and sensory NCV and degeneration of spinal cord anterior horn cells. See CMT1B ({118200}) and CMT1A ({118220}) for descriptions of autosomal dominant slow nerve conduction types of Charcot-Marie-Tooth disease. See CMT4A ({214400}) and CMTX1 ({302800}) for autosomal recessive and X-linked forms of Charcot-Marie-Tooth disease, respectively.\n\nFor a discussion of genetic heterogeneity of CMT type 2, see {118210}." +609261,"Stuttering is a speech disorder characterized by the presence of syllable repetitions, syllable prolongations, and interruptions in the smooth flow of speech known as blocks (summary by {4:Riaz et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial persistent stuttering, see {184450}." +609270,"Autosomal recessive spinocerebellar ataxia is a neurologic disorder characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life (summary by {2:Dy et al., 2015})." +609271,"For a phenotypic description and a discussion of heterogeneity of keratoconus, see {148300}." +609273,"Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by {4:Sambuughin et al., 2010})." +609283,"Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({1:Filosto et al., 2003}; {8:Luoma et al., 2004}).\n\nPEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes ({7:Lamantea et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640})." +609284,"Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by {14:Waddell et al., 2010} and {9:Malfatti et al., 2013}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see {161800}." +609286,"Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by {3:Fratter et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640}).\n\nPEO caused by mutations in the POLG gene ({174763}) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 ({103220}) or C10ORF2 genes ({6:Lamantea et al., 2002})." +609289,"Vasovagal syncope (VVS) is an exaggerated tendency toward the common faint caused by a sudden and profound hypotension with or without bradycardia. Several lines of evidence indicate central and peripheral abnormalities of sympathetic function. {5:Newton et al. (2005)} stated that a definitive diagnosis of VVS is made only when a patient has reproduction of symptoms in association with hypotension or bradycardia. The head up tilt (HUT) test is the investigation carried out to induce these hemodynamic changes ({6:Parry and Kenny, 1999}).\n\nThis disorder may be the same as Streeten-type orthostatic hypotensive disorder ({143850})." +609296,"BILU syndrome is an autosomal dominant complex disorder characterized by humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations (summary by {5:Hugle et al., 2011})." +609299,"For a general discussion of hereditary prostate cancer, see {176807}." +609304,"Developmental and epileptic encephalopathy-3 (DEE3) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks to months of life. The prognosis is poor, and affected children either may die within 1 to 2 years after birth or survive in a persistent vegetative state. The EEG pattern often shows a suppression-burst pattern with high-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases; these features are reminiscent of a clinical diagnosis of Ohtahara syndrome. Some patients may have hypsarrhythmia on EEG, consistent with a clinical diagnosis of West syndrome (summary by {2:Molinari et al., 2005}, {1:Molinari et al., 2009}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +609308,"Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable ({1:Balci et al., 2005}; review by {4:Godfrey et al., 2007}). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, {613155}).\n\n<Subhead> Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C)\n\nLimb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGC2 ({613158}), caused by mutation in the POMT2 gene ({607439}); MDDGC3 ({613157}), caused by mutation in the POMGNT1 gene ({606822}); MDDGC4 ({611588}), caused by mutation in the FKTN gene ({607440}); MDDGC5 ({607155}), caused by mutation in the FKRP gene ({606596}); MDDGC7 ({616052}), caused by mutation in the ISPD gene (CRPPA; {614631}); MDDGC8 ({618135}), caused by mutation in the POMGNT2 gene ({614828}); MDDGC9 ({613818}) caused by mutation in the DAG1 gene ({128239}); MDDGC12 ({616094}), caused by mutation in the POMK gene ({615247}); MDDGC14 ({615352}) caused by mutation in the GMPPB gene ({615320}); and MDDGC15 ({612937}), caused by mutation in the DPM3 gene ({605951})." +609313,"MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It shows phenotypic similarities to CEDNIK ({609528}) (summary by {4:Montpetit et al., 2008})." +609322,"The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors ({12:Sevenet et al., 1999}).\n\nRhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors ({1:Beckwith and Palmer, 1978}). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) ({10:Parham et al., 1994}). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT).\n\n<Subhead> Genetic Heterogeneity of Rhabdoid Tumor Predisposition Syndrome\n\nSee also RTPS2 ({613325}), caused by germline mutation in the SMARCA4 gene ({603254}) on chromosome 19p13." +609340,"Spastic paraplegia-29 (SPG28) is an autosomal recessive neurodegenerative disorder characterized by early-onset, slowly progressive lower-limb spasticity resulting in walking difficulties. Some patients also have distal sensory impairment (summary by {2:Tesson et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}." +609345,"{1:Franceschini et al. (2004)} observed 2 male sibs with features suggestive of Meckel syndrome (see MKS; {249000}), including occipital encephalocele, polycystic kidneys, and polydactyly, but who also had short, incurved distal long bones and triradiate acetabula. The latter feature had not previously been reported in MKS, nor had it been seen with occipital encephalocele. {1:Franceschini et al. (2004)} noted that although short and bowed limbs are seen in about 15% of MKS cases ({2:Majewski et al., 1983}), the severity, bilaterality, and absolute symmetry of lower limb malformations in both sibs and the association with triradiate acetabula suggested a distinct syndrome." +609352,"Epidermolysis bullosa simplex 2E with migratory circinate erythema (EBS2E) is a skin disorder in which multiple vesicles are present from birth onward and acquire over time a typical migratory circinate pattern on an erythematous background. Postinflammatory hyperpigmentation develops gradually and may have a mottled pattern (summary by {2:Has et al., 2020}).\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760})." +609363,"Colloid cysts of the third ventricle are benign tumors that may lie dormant and be found incidentally at autopsy or on CT or MRI examination. By contrast, in some cases they may cause severe, acute obstruction to the flow of cerebrospinal fluid, leading to coma and death. More commonly, they present as recurrent headaches, ataxia, nausea and vomiting, depression, memory loss, and emotional lability, all of which are associated with chronic hydrocephalus. Symptomatic colloid cysts are seen most commonly in middle life, but they also occur in childhood and old age (summary by {7:Partington and Bookalil, 2004})." +609378,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({2:Bailey et al., 1996}; {15:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({8:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({16:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +609384,"For a general phenotypic description and a discussion of genetic heterogeneity of the CFEOM3 phenotype, see CFEOM3A ({600638})." +609400,"For a discussion of autoimmunity, see {109100}. See also vitiligo ({606579})." +609402,"For a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia, see PEE1 ({189800})." +609403,"For a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia, see PEE1 ({189800})." +609408,"For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 ({236100})." +609423,"The pathogenesis of HIV infection and the progression from infection to AIDS vary significantly between exposed individuals. Infection occurs after the virus, which has macrophage (M)- and T lymphocyte (T)-tropic strains and more than 12 subtypes, survives an array of nonspecific, nongenetic environmental and host factors." +609432,"Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes ({3:Malik et al., 2014})." +609438,"{1:Kirby et al. (2005)} described 3 nondysmorphic sibs from a consanguineous Pakistani family who had severe mental retardation, keratoconus resulting in significant vision failure, and febrile seizures throughout the first few years of life. Two of the sibs developed sinoatrial heart block, 1 of whom required insertion of a cardiac pacemaker. {1:Kirby et al. (2005)} concluded that this combination of features likely constituted a previously unrecognized syndrome inherited as an autosomal recessive trait." +609439,"DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by {3:Riazuddin et al., 2012})." +609442,"All antiepileptic drugs are potential teratogens. Anticonvulsant treatment during pregnancy presents the challenge of balancing between optimal treatment for seizure control and possible harmful fetal effects. One of the best delineated examples of harmful fetal effects is the fetal valproate syndrome (FVS), comprising typical facial features, developmental delay, and a variety of malformations such as neural tube defects, cardiac and gastrourinary malformations, and limb defects ({5:Winter et al., 1987}; {1:Ardinger et al., 1988}; {2:Clayton-Smith and Donnai, 1995})." +609454,"For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 ({601104})." +609460,"Goldberg-Shprintzen syndrome (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome characterized by impaired intellectual development, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease and/or gyral abnormalities of the brain, consistent with defects in migration of neural crest cells and neurons. Other features, such as megalocornea or urogenital anomalies, may also be present. Goldberg-Shprintzen syndrome has some resemblance to Mowat-Wilson syndrome (MOWS; {235730}) but is genetically distinct (summary by {3:Drevillon et al., 2013})." +609465,"Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality (summary by {3:Ben-Mahmoud et al., 2018})." +609466,"{1:Balci et al. (2004)} reported a brother and sister with an apparently previously undescribed syndrome characterized by unusual triangular facial appearance associated with cleft palate, malocclusion, severe midfacial hypoplasia, and mild sensorineural hearing loss. Both sibs had normal intelligence. The parents were unrelated and of normal stature and intelligence, suggesting autosomal recessive inheritance." +609467,"CCL3P1 is a truncated pseudogene similar to CCL3 ({182283}) and CCL3L1 ({601395}) ({3:Hirashima et al., 1992})." +609470,"For a phenotypic description and a discussion of genetic heterogeneity of left ventricular noncompaction (LVNC), see {604169}." +609500,"Infantile-onset autophagic vacuolar myopathy is characterized by increased cardiac and skeletal muscle glycogen with normal acid maltase (GAA; {606800}). Skeletal muscle biopsy shows characteristic intracytoplasmic vacuoles that stain for sarcolemmal proteins and complement proteins.\n\nSimilar pathologic findings are seen in Danon disease ({300257}), caused by mutation in the LAMP2 gene ({309060}) on chromosome Xq24, and X-linked myopathy with excessive autophagy (XMEA; {310440}), which has been mapped to Xq28." +609528,"Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK) refers to a unique constellation of clinical manifestations including global developmental delay with hypotonia, roving eye movements or nystagmus, poor motor skills, and impaired intellectual development with speech delay. More variable features include microcephaly, feeding difficulties, seizures, ocular anomalies, hearing loss, and nonspecific dysmorphic facial features. Palmoplantar keratoderma and ichthyosis or neuropathy develop in some patients. Brain magnetic resonance imaging (MRI) shows varying degrees of cerebral dysgenesis, including absence of the corpus callosum and cortical dysplasia, as well as hypomyelination, white matter loss, and white matter signal anomalies suggestive of a leukodystrophy. Some patients may show developmental regression; many die in childhood ({4:Fuchs-Telem et al., 2011}; {6:Mah-Som et al., 2021}). With more patients being reported, several authors ({3:Diggle et al., 2017}; {5:Llaci et al., 2019}; {6:Mah-Som et al., 2021}) have observed that the dermatologic features and peripheral neuropathy show reduced penetrance and are more variable manifestations of this disorder, as they are not observed in all patients with biallelic SNAP29 mutations." +609532,"HCV, which is principally transmitted by blood, infects about 3% of the world's population. HCV infection causes acute hepatitis, which is self-resolving in 20 to 50% of cases but does not confer permanent immunity. In 50 to 80% of cases, HCV infection becomes chronic and results in chronic hepatitis, cirrhosis, and hepatocellular carcinoma. As a result, HCV infection is a leading killer worldwide and the most common cause of liver failure in the U.S. HCV is opportunistic in individuals infected with human immunodeficiency virus (HIV; see {609423}), approximately 25% of whom are coinfected with HCV. HCV infection is also associated with cryoglobulinemia (see {123550}), a B-lymphocyte proliferative disorder ({32:Pawlotsky, 2004}; {5:Chisari (2005)}; {33:Pileri et al., 1998})." +609537,Spinal lipomas are the most common form of occult spinal dysraphism and include lipomyelomeningoceles. The familial occurrence of lipomyelomeningocele was reported by {2:Seeds and Powers (1988)}. {1:Kannu et al. (2005)} described a family in which 2 successively born sibs were affected by lipomyelomeningocele. The parents were nonconsanguineous. +609541,"Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive spastic paraplegia resulting in loss of independent ambulation in the teenage years. Additional features include optic atrophy, later onset of sensorimotor peripheral neuropathy, and progressive joint contractures; cognition remains intact (summary by {3:Melo et al., 2015})." +609558,"For a general discussion of hereditary prostate cancer, see {176807}." +609560,"Mitochondrial DNA depletion syndrome-2 is an autosomal recessive disorder characterized primarily by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later childhood onset of a slowly progressive myopathy ({10:Oskoui et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 ({603041})." +609566,"Parietal foramina-3 is a nonsyndromic developmental defect characterized by symmetrical oval holes in the parietal bone ({1:Chen et al., 2003}).\n\nFor a discussion of genetic heterogeneity of parietal foramina, see {168500}." +609570,"In a genomewide linkage study of migraine in Australian twins, {1:Nyholt et al. (2005)} found that quantitative-trait linkage analysis produced evidence of significant linkage on 5q21. Evidence of suggestive linkage was obtained on chromosomes 8, 10, and 13. Examination of linkage to individual migraine symptoms (subphenotypes) indicated that individual symptoms were differentially associated with particular linkage peaks in their data. {1:Nyholt et al. (2005)} proposed that the chromosome 5 region probably contains a general migrainous headache gene, with all 10 International Headache Society (IHS) symptoms producing a lod score with P less than or equal to 0.05. In a subphenotype analysis for each symptom, in which affected individuals must simply have the individual symptom, regardless of latent-class analysis (LCA) diagnosis, the chromosome 5 locus was most associated with pulsating headache pain (lod = 3.41). The chromosome 8 locus was associated with nausea/vomiting (lod = 1.46) and moderate/severe headache pain (lod = 1.27); the chromosome 10 peak was most associated with phonophobia (lod = 1.44) and photophobia (lod = 1.63); and the chromosome 13 peak was completely due to association with photophobia (lod = 1.55)." +609572,"For a phenotypic description and a discussion of genetic heterogeneity of photoparoxysmal response, see PPR1 ({132100})." +609573,"For a phenotypic description and a discussion of genetic heterogeneity of the photoparoxysmal response, see PPR1 ({132100})." +609578,"For a general phenotypic description and a discussion of genetic heterogeneity of familial restrictive cardiomyopathy, see {115210}." +609597,"Parietal foramina-2 (PFM2) is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by {1:Altunoglu et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 ({168500})." +609616,"{1:Agarwal et al. (2005)} reported on a single patient with a previously undescribed form of skeletal dysplasia with rhizomelic, acromelic, and prominent mesomelic shortening, distal ulnar epiphyseal and pubic punctate calcifications (stippling), megaepiphyses, platyspondyly, anterior beaking of the vertebrae, and sensorineural hearing loss. They compared the features of this case with those of other forms of skeletal dysplasia, particularly the mesomelic, acromesomelic, and megaepiphyseal (megaesophageal) disorders. The patient had been diagnosed as having achondroplasia at birth. His parents and 2 brothers were of normal stature. Progressive sensorineural hearing loss began in the seventh grade and subsequently required the use of hearing aids. At the age of 16, he developed frequent left patella dislocations. At age 22, he suffered detachment of his left retina. At age 45, he had myopia in the left eye and presbyopia in both eyes. His height was 120 cm. No facial dysmorphic features were noted. He had prominent mesomelic shortening with a lesser degree of rhizomelic shortening of the arms. There was limited rotation at the elbows, and both hands were ulnar deviated. No molecular studies were reported." +609620,"Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by {7:Moreno et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Short QT Syndrome\n\nShort QT syndrome-2 (SQT2; {609621}) is caused by mutation in the KCNQ1 gene ({607542}). SQT3 ({609622}) is caused by mutation in the KCNJ2 gene ({600681})." +609621,"Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by {3:Moreno et al., 2015}).\n\nFor a discussion of genetic heterogeneity of short QT syndrome, see SQT1 ({609620})." +609622,"Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by {1:Moreno et al., 2015}).\n\nFor a discussion of genetic heterogeneity of short QT syndrome, see SQT1 ({609620})." +609629,"Familial visceral neuropathy-3 (VSCN3) is an autosomal dominant disorder in which affected individuals experience gastrointestinal symptoms, including esophageal dysmotility and chronic intestinal pseudoobstruction, due to abnormalities of the intestinal myenteric plexus. Nonintestinal abnormalities, including pupillary abnormalities and peripheral neuropathy, may also be present (summary by {4:Roper et al., 2005}).\n\nFor a discussion of genetic heterogeneity of familial visceral neuropathy, see VSCN1 ({243180})." +609630,"For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}." +609633,"For a phenotypic description and a discussion of genetic heterogeneity of bipolar disorder, see {125480}.\n\nBipolar disorder (BPAD) is a severe psychiatric disorder that manifests with alternating episodes of mania and depression. Age at onset (AAO) is a potential clinical marker of genetic heterogeneity in BPAD. {1:Lin et al. (2005)} sought to incorporate AAO as a covariate in linkage analyses of BPAD using 2 different methods in genomewide scans of 150 multiplex pedigrees with 874 individuals. The LODPAL analysis identified 2 loci, on 21q22.13 (lod = 3.29) and 18p11.2 (see {125480}), with increased linkage among subjects who had early onset (AAO = 21 years or younger) and later onset (AAO = more than 21 years), respectively. The finding on 21q22.13 was significant at the chromosomewide level, even after correction for multiple testing. Moreover, a similar finding was observed in an independent sample of 65 pedigrees (lod = 2.88). {1:Lin et al. (2005)} suggested that previous inconsistent linkage findings may have been due to differences in the AAO characteristics of the samples examined." +609634,"Familial hemiplegic migraine-3 (FHM3) is a severe subtype of migraine with aura characterized by some degree of hemiparesis during the attacks ({1:Dichgans et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FHM, see FHM1 ({141500})." +609636,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}." +609640,"Frias syndrome is characterized by mild exophthalmia, palpebral ptosis, hypertelorism, short square hands with minimal proximal syndactyly between the second and third fingers, small broad great toes, and short stature. Some patients may exhibit bilateral pedunculated postminimi (summary by {2:Martinez-Fernandez et al., 2014})." +609649,"Trichilemmal cysts, also known as pilar cysts or tricholemmal cysts, are derived from the outer root sheath of the deeper parts of a hair follicle and consist of a well-keratinized epidermal wall surrounding semisolid hair keratin. They occur predominantly on the scalp, are easily enucleated, and appear as a firm, smooth, white-walled cyst without a punctum ({4:McGavran and Binnington, 1966}; {5:Pinkus, 1969}; {2:Leppard and Sanderson, 1976})." +609655,"{1:Singh et al. (2003)} described sisters who presented in their early teenage years with bilateral ankle, knee, and later, wrist pain. Radiologic examination revealed bilateral osteolysis of tali, scaphoids, and patella. Bone loss, sclerosis, and irregularity were seen in the affected areas. Short fourth metacarpals were also found. Synovial ankle biopsies in both sisters showed evidence of chronic inflammatory changes with infiltration of plasma cells and lymphocytes consistent with chronic synovitis. There was no renal involvement, and excretion of amino acids, mucopolysaccharides, and oligosaccharides was normal. Both parents and a younger brother had no clinical or radiologic evidence of the disease. There was no history of consanguinity. {1:Singh et al. (2003)} suggested autosomal recessive inheritance." +609656,"A quantitative trait locus (QTL) for bone size, which has been termed BSZQTL1, has been identified by genomewide linkage analysis on chromosome 17q.\n\nSee also BSZQTL2 ({609657}) on chromosome 5q, and BSZQTL3 ({610649}) on chromosome 8q24." +609657,"For a discussion of the heritability of bone size and the genetic heterogeneity of quantitative trait loci (QTL) for bone size, see (BSZQTL1; {609656})." +609670,"For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 ({157300}).\n\n{1:Cader et al. (2003)} undertook a genomewide screen of 43 Canadian families, segregating migraine with aura with families chosen for an apparent autosomal dominant pattern of transmission. Parametric linkage analysis revealed a novel locus on 11q24 with a 2-point lod score of 4.2 at marker GATA64D03 (GenBank {GENBANK G08882}) and a multipoint parametric lod score of 5.6 with a peak at the same marker. Several candidate ion channel genes map to this region, including GRIK4 ({600282}), KCNJ5 ({600734}), and KCNJ1 ({600359})." +609698,"Abnormal thyroid hormone metabolism-1 (THMA1) is characterized by multiorgan defects, including abnormal thyroid hormone metabolism, myopathy, hearing loss, and male infertility (summary by {1:Catli et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Abnormal Thyroid Hormone Metabolism\n\nTHMA2 ({619855}) is caused by mutation in the DIO1 gene ({147892}) on chromosome 1p32." +609727,"For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600})." +609734,"OBAIRH is an autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. In the neonatal period, affected individuals are prone to hypoglycemia, hyperbilirubinemia, and cholestasis that may result in death if not treated. The disorder results from mutation in the POMC gene, which encodes a preproprotein that is processed into a range of bioactive peptides, including alpha-melanocyte-stimulating hormone (MSH) and ACTH (summary by {4:Kuhnen et al., 2016} and {1:Clement et al., 2008})." +609741,"Mutations in the CRYBB3 gene have been identified in families with cataract, described as congenital nuclear cataract with cortical riders, nuclear, posterior polar, anterior polar, and cortical.\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 2; CATCN2.'" +609745,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}." +609750,"For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}." +609753,"Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by {2:Farrell and Kelly, 2002}).\n\nFor additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}." +609754,"Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by {3:Farrell and Kelly, 2002}).\n\nFor additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}." +609755,"Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by {2:Farrell and Kelly, 2002}).\n\nFor additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}." +609757,"The chromosome 7q11.23 duplication syndrome is a multisystem developmental disorder with variable manifestations, most commonly speech delay and mild craniofacial anomalies, and an increased incidence of congenital anomalies such as heart defects, diaphragmatic hernia, and cryptorchidism. Many patients have cognitive defects ranging from mental retardation to autism, although some have normal cognitive abilities (summary by {13:Van der Aa et al., 2009})." +609782,"For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 ({100070})." +609790,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}." +609796,"Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In an acral form of the disorder (PSS2), the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis (summary by {1:Cassidy et al., 2005}).\n\nFor a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 ({270300})." +609800,"For a general phenotypic description and a discussion of genetic heterogeneity of generalized epilepsy with febrile seizures plus (GEFS+), see {604233}." +609808,"{2:Ortega-Monzo et al. (2000)} described 4 cases of precalcaneal congenital fibrolipomatous hamartoma and identified several other reported cases. All were sporadic. Typically, one flesh-colored papuloid lesion presented at birth in the midline plantar region of each heel. The soft bilateral skin lesions were symmetric and measured approximately 0.5 to 1 cm in diameter. The lesions persisted in some cases up to at least 12 years of age and were not associated with any functional problems. No malformations or other obvious clinical findings were associated. Histopathologic studies showed mature adipose tissue enveloped predominantly by collagenous fibrous sheaths.\n\n{1:Meyer et al. (2005)} described PCFH in a father and his 2 daughters. Autosomal dominant inheritance was suggested." +609812,"Maturity-onset diabetes of the young type 8 (MODY8) is characterized by onset of diabetes before age 25 years, with slowly progressive pancreatic exocrine dysfunction, fatty replacement of pancreatic parenchyma (lipomatosis), and development of pancreatic cysts. Patients do not present clinical signs of chronic pancreatitis (summary by {3:Johansson et al., 2018}).\n\nFor a phenotypic description and discussion of genetic heterogeneity of MODY, see {606391}." +609814,"Complement factor H deficiency (CFHD) has a variable phenotype. Some patients present with recurrent infections, including increased susceptibility to meningococcal infections, whereas others develop renal disease manifest primarily as C3 glomerulopathy. Affected individuals usually present in the first decades of life with nonspecific findings such as hematuria and may progress to chronic renal failure. As complement factor H is the key regulator of the alternative pathway of the complement system, CFH deficiency results in inappropriate activation of the alternative complement pathway. Laboratory features usually include decreased serum levels of factor H, due to the genetic defect, as well as secondarily decreased levels of complement component C3 ({120700}) and other alternative pathway components, consistent with consumption of these factors. The renal phenotype is now considered to be a form of C3 glomerulopathy (C3G), which is a pathologic entity in which C3 is deposited within the kidney glomerulus in the mesangial or intramembranous space; this occurs in the absence of immune complexes or immunoglobulins. Terms used to describe this disease include membranoproliferative glomerulonephritis type II (MPGN II), mesangial glomerulonephritis, dense deposit disease (DDD), and C3 glomerulonephritis (summary by {4:Ault, 2000}, reviews by {17:Riedl et al., 2017} and {22:Wong and Kavanagh, 2018}).\n\n<Subhead> Nomenclature and Classification\n\nSeveral reviews ({10:Ito et al., 2017}, {17:Riedl et al., 2017}, {22:Wong and Kavanagh, 2018}) have noted that the definition and classification of C3G continues to evolve. Historically, C3G has been referred to as type II membranoproliferative glomerulonephritis (MPGN) or dense deposit disease (DDD) with mesangial or intramembranous deposition of electron dense material. In contrast, MPGN types I and III, which are usually associated with immune complex deposition, tend to show subendothelial and subepithelial electron dense deposits. However, there is significant variability, and the differentiation and distinction between these terms is often unclear. {21:Welch (2002)} also discussed the role of complement in renal disease.\n\nA subgroup of patients with MGPN II who do not have mutations in the CFH gene are positive for serum C3 nephritic factor (C3NeF), which is an autoantibody directed against C3bBb, the convertase of the alternative pathway of the complement cascade. Presence of C3NeF prolongs the half-life of C3 convertase, which also results in inappropriate activation of the complement cascade (summary by {1:Abrera-Abeleda et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of C3G\n\nC3G2 ({610984}) is caused by mutation in the CFI gene ({217030}) on chromosome 4q25, and C3G3 ({614809}) is caused by mutation in the CFHR5 gene ({608593}) on chromosome 1q31." +609815,"Syndactyly type I ({185900}) is an autosomal dominant limb malformation characterized in its classical form by complete or partial webbing between the third and fourth fingers and/or the second and third toes. Zygodactyly is a subtype of type I syndactyly in which webbing of second and third toes occurs without hand involvement (summary by {2:Malik et al., 2005})." +609821,"Platelet-type bleeding disorder-8 is an autosomal recessive condition characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation (review by {3:Cattaneo, 2011})." +609822,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +609888,"Leprosy is a disease of peripheral sensory nerves that results from infection with Mycobacterium leprae, which was first detected in Bergen, Norway, in 1873 by Dr. Armauer Hansen. It can be effectively treated with long-term multidrug therapy. In 2006, more than 250,000 new cases of leprosy were reported to the World Health Organization. Many infected individuals have self-healing indeterminate lesions. Others with initially indeterminate lesions proceed to develop leprosy that can be classified along a clinical and immunologic spectrum from paucibacillary or tuberculoid leprosy to multibacillary or lepromatous leprosy. Most patients fall somewhere between these 2 polar forms of the disease and are classified, using pathology-based criteria developed by {28:Ridley and Jopling (1966)}, as borderline tuberculoid, midborderline, and borderline lepromatous. The paucibacillary form is associated with strong M. leprae-specific cell-mediated immunity (CMI), whereas the multibacillary form is notable for the lack of antigen-specific CMI. The prevalence of paucibacillary versus multibacillary leprosy varies in different populations. M. leprae cannot be cultured in vitro and grows slowly in the footpads of mice, the liver and spleen of armadillos, and in some nonhuman primates. A genetic component to leprosy susceptibility has long been suspected. While contact with a multibacillary patient increases the relative risk of acquiring disease, most new patients have no known contact with other patients. For further information, see reviews by {13:Fitness et al. (2002)}, {22:Mira (2006)}, {24:Moraes et al. (2006)}, {30:Scollard et al. (2006)}, and {5:Alter et al. (2008)}." +609893,"For a general phenotypic description and a discussion of genetic heterogeneity of congenital nongoitrous hypothyroidism, see {275200}." +609903,"For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus, see {152700}." +609915,"For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200})." +609918,"For a phenotypic description and a discussion of genetic heterogeneity of gallbladder disease (GBD), see GBD1 ({600803})." +609919,"For a phenotypic description and a discussion of genetic heterogeneity of gallbladder disease (GBD), see GBD1 ({600803})." +609924,"Aminoacylase-1 deficiency (ACY1D) is a rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of specific N-actyl amino acids. Most patients show neurologic abnormalities such as intellectual disability, seizures, hypotonia, and motor delay (summary by {1:Ferri et al., 2014})." +609939,"For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see {152700}." +609942,"Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature (summary by {4:Shah et al., 1999}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950})." +609954,"Asperger syndrome is considered to be a form of childhood autism (see, e.g., {209850}). The DSM-IV ({1:American Psychiatric Association, 1994}) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. {2:Gillberg et al. (2001)} described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.\n\nFor a discussion of genetic heterogeneity of Asperger syndrome, see ASPG1 ({608638})." +609955,"For phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF ({135300})." +609958,"Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis ({3:Laitinen et al., 2001}; {1:Illig and Wjst, 2002}; {4:Pillai et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}." +609981,"Immunodeficiency-54 is an autosomal recessive primary immunodeficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer (NK) cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. Laboratory studies of patient cells showed a DNA repair defect (summary by {3:Gineau et al., 2012})." +609985,"For a phenotypic description and a discussion of genetic heterogeneity of panic disorder, see {167870}." +609994,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +609995,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +610003,"The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles ({4:Mole et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730})." +610006,"2-Methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation. It is most often ascertained via newborn screening and is usually clinically asymptomatic, although some patients have been reported to have delayed development and neurologic signs. Therefore, the clinical relevance of the deficiency is unclear ({6:Sass et al., 2008})." +610015,"Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by {2:Haberle et al., 2011})." +610017,"Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by {2:Dawson et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 ({186500})." +610019,"Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital nuclear.\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Autosomal Recessive Congenital 2; CATC2.'" +610031,"Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia. Those with less severe malformations can survive, but usually have some degree of neurologic impairment, such as mental retardation, seizures, and movement abnormalities (summary by {3:Chang et al., 2006}; {4:Fallet-Bianco et al., 2014}).\n\nFor a discussion of genetic heterogeneity of CDCBM, see CDCBM1 ({614039})." +610042,"Pitt-Hopkins-like syndrome-1 (PTHSL1) is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioral abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging (summary by {3:Smogavec et al., 2016})." +610048,"Congenital stromal corneal dystrophy (CSCD) is a rare autosomal dominant eye disease characterized by diffuse bilateral corneal clouding with flake-like whitish opacities throughout the stroma. These small flakes and spots are present at or shortly after birth and are thought to become more numerous with age. Some affected individuals may have strabismus or nystagmus. Normal corneal thickness, horizontal diameter, and endothelial function distinguish the condition from congenital corneal opacifications such as congenital hereditary endothelial dystrophy (see {121700}), posterior polymorphous dystrophy (see {122000}), and congenital glaucoma (see {137760}). Most individuals undergo a penetrating keratoplasty in late adolescence or in early adulthood with good results (summary by {4:Kim et al., 2011} and {3:Jing et al., 2014})." +610065,"For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus, see {152700}." +610066,"For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus, see {152700}." +610069,"Hereditary mixed polyposis syndrome-2 (HMPS2) is characterized by colonic polyps of mixed hyperplastic, adenomatous, and occasional juvenile types. Polyposis eventually progresses to colorectal cancer ({1:Cao et al., 2006}).\n\nFor a discussion of genetic heterogeneity of HMPS, see HMPS1 ({601228})." +610071,"For a phenotypic description and a discussion of genetic heterogeneity of familial primary hyperparathyroidism, see HRPT1 ({145000})." +610090,"PNPOD is an autosomal recessive inborn error of metabolism resulting in vitamin B6 deficiency that manifests as neonatal-onset severe seizures and subsequent encephalopathy. Patients with PNPO mutations tend to respond better to treatment with pyridoxal 5-prime phosphate (PLP) than with pyridoxine (summary by {4:Plecko et al., 2014})." +610100,"Giant axonal neuropathy-2 is an autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade. Foot deformities may be present in childhood. More severely affected individuals may develop cardiomyopathy. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation (summary by {1:Klein et al., 2014})." +610102,"Patients with C7 deficiency have an increased susceptibility to recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis ({14:Nishizaka et al., 1996})." +610114,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +610127,"The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure ({5:Mole et al., 2005}).\n\nFor a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 ({256730})." +610131,"Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by {2:Young et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640})." +610136,"{2:Koenig et al. (2005)} reported a severely retarded female with Robin sequence, short stature, seizures, and a characteristic segmentation of the second metacarpal. They noted that {1:Devriendt et al. (2000)} had reported an adult female with severe short stature, profound mental retardation, seizures, facial dysmorphism, and hyperphalangy of her index fingers. {2:Koenig et al. (2005)} suggested that these patients had the same disorder, which they called Devriendt syndrome." +610153,"Autosomal recessive deafness-49 (DFNB49) is characterized by prelingual profound sensorineural hearing loss at all frequencies ({3:Riazuddin et al., 2006} and {1:Chishti et al., 2008})." +610157,"HSR1 was originally identified as a noncoding eukaryotic RNA involved in activation of heat shock factor-1 (HSF1; {140580}) ({2:Shamovsky et al., 2006}). However, more recent evidence suggests a bacterial origin for HSR1 ({1:Kim et al., 2010})." +610158,"Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision ({10:Sundin et al., 2006}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800})." +610170,"Kyphoscoliosis is a 3-dimensional deformity of spinal growth characterized by curvature in the coronal plane (scoliosis) in conjunction with thoracic kyphosis in excess of the normal range in the sagittal plane (summary by {1:Miller et al., 2006})." +610185,"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by {3:Gulsuner et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 ({224050})." +610198,"3-Methylglutaconic aciduria type V is an autosomal recessive disorder characterized by the onset of dilated or noncompaction cardiomyopathy in infancy or early childhood. Many patients die of cardiac failure. Other features include microcytic anemia, growth retardation, mild ataxia, mild muscle weakness, genital anomalies in males, and increased urinary excretion of 3-methylglutaconic acid. Some patients may have optic atrophy or delayed psychomotor development (summary by {2:Davey et al., 2006} and {3:Ojala et al., 2012}).\n\nFor a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I ({250950})." +610199,"Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome is characterized by intrauterine growth retardation and onset of nonimmune diabetes mellitus within the first few weeks of life. Other features include renal parenchymal disease, primarily renal cystic dysplasia, and hepatic disease, with hepatitis in some patients and hepatic fibrosis and cirrhosis in others. Facial dysmorphism, when present, consistently involves low-set ears, epicanthal folds, flat nasal bridge, long philtrum, and thin upper lip. Most patients exhibit developmental delay ({1:Dimitri et al., 2015})." +610202,"Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.\n\nThe preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'" +610204,"Pontocerebellar hypoplasia (PCH) refers to a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem (summary by {2:Patel et al., 2006}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia, see PCH1 ({607596})." +610208,"For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 ({157300})." +610209,"For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 ({157300})." +610213,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800})." +610234,"For a general phenotypic description and a discussion of genetic heterogeneity of synpolydactyly, see SPD1 ({186000})." +610245,"Spinocerebellar ataxia-23 is an adult-onset autosomal dominant neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria ({1:Bakalkin et al., 2010}).\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +610247,"Eosinophilic esophagitis (EOE) has an incidence of approximately 1 per 10,000 people. Symptoms include difficulty feeding, failure to thrive, vomiting, epigastric or chest pain, dysphagia, and food impaction. Individuals with EOE are predominantly young males with a high rate of atopic disease, and the diagnosis is made by endoscopy and biopsy findings of isolated eosinophils in the esophagus (summary by {3:Rothenberg et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Eosinophilic Esophagitis\n\nEosinophilic esophagitis-1 (EOE1) is associated with variation at chromosome 7q11.2. Another locus (EOE2; {613412}) has been been associated with variation in the TSLP gene ({607003}) on chromosome 5q22." +610253,"Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome ({1:Harada et al., 2004}; {2:Iwakoshi et al., 2004}; {7:Stewart et al., 2004}; {6:Neas et al., 2005}). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects.\n\n<Subhead> Genetic Heterogeneity of Kleefstra Syndrome\n\nKLEFS2 ({617768}) is caused by mutation in the KMT2C gene ({606833}) on chromosome 7q36." +610256,"Anterior segment dysgeneses are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {2:Cheong et al., 2016}).\n\nAnterior segment dysgenesis is sometimes divided into subtypes, including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon ({4:Gould and John, 2002}).\n\nSome patients with ASGD2 have been reported with a congenital primary aphakia subtype.\n\nCongenital primary aphakia is a rare developmental disorder characterized by absence of the lens, the development of which is normally induced during the fourth to fifth week of human embryogenesis. This original failure leads, in turn, to complete aplasia of the anterior segment of the eye, which is the diagnostic histologic criterion for CPAK. In contrast, in secondary aphakia, lens induction occurs and the lens vesicle develops to some degree, but is progressively resorbed perinatally, resulting in less severe ocular defects (summary by {9:Valleix et al., 2006})." +610260,"For a phenotypic description and a discussion of genetic heterogeneity of infantile hypertrophic pyloric stenosis (IHPS), see {179010}." +610293,"Glycosylphosphatidylinositol is a glycolipid that anchors more than 150 proteins to the cell surface, and these proteins, termed GPI-anchored proteins (GPI-APs), perform a variety of functions as enzymes, adhesion molecules, complement regulators, and coreceptors in signal transduction pathways. Reduced surface levels of GPI-APs or abnormal GPI-AP structure can therefore result in variable manifestations. Glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1) is characterized predominantly by portal hypertension due to portal vein thrombosis. Most patients have absence seizures, cerebral thrombosis, and macrocephaly. Some patients have mildly to moderately impaired intellectual development (summary by {3:Makrythanasis et al., 2016}; {4:Pode-Shakked et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Glycosylphosphatidylinositol Biosynthesis Defects\n\nAlso see GPIBD2 ({239300}), caused by mutation in the PIGV gene ({610274}); GPIBD3 ({614080}), caused by mutation in the PIGN gene ({606097}); GPIBD4 ({300868}), caused by mutation in the PIGA gene ({311770}); GPIBD5 ({280000}), caused by mutation in the PIGL gene ({605947}); GPIBD6 ({614749}), caused by mutation in the PIGO gene ({614730}); GPIBD7 ({615398}), caused by mutation in the PIGT gene ({610272}); GPIBD8 ({614207}), caused by mutation in the PGAP2 gene ({615187}); GPIBD9 ({615802}), caused by mutation in the PGAP1 gene ({611655}); GPIBD10 ({615716}), caused by mutation in the PGAP3 gene ({611801}); GPIBD11 ({616025}), caused by mutation in the PIGW gene ({610275}); GPIBD12 ({616809}), caused by mutation in the PIGY gene ({610662}); GPIBD13 ({616917}), caused by mutation in the PIGG gene ({616918}); GPIBD14 ({617599}), caused by mutation in the PIGP gene ({605938}); GPIBD15 ({617810}), caused by mutation in the GPAA1 gene ({603048}); GPIBD16 ({617816}), caused by mutation in the PIGC gene ({601730}); GPIBD17 ({618010}), caused by mutation in the PIGH gene ({600154}); GPIBD18 ({618143}), caused by mutation in the PIGS gene ({610271}); GPIBD19 ({618548}), caused by mutation in the PIGQ gene ({605754}); GPIBD20 ({618580}), caused by mutation in the PIGB gene ({604122}); GPIBD21 ({618590}), caused by mutation in the PIGU gene ({608528}); GPIBD22 ({618879}), caused by mutation in the PIGK gene ({605087}); GPIBD23 ({617020}), caused by mutation in the ARV1 gene ({611647}); and GPIBD24 ({619356}), caused by mutation in the PIGF gene ({600153})." +610294,"For a discussion of genetic heterogeneity of quantitative trait loci for intelligence, see INTLQ1 ({603783})." +610295,"For a discussion of genetic heterogeneity of quantitative trait loci for intelligence, see INTLQ1 ({603783}).\n\nTo identify chromosomal regions that explain variation in intelligence, {1:Posthuma et al. (2005)} conducted a genomewide scan involving 634 sib pairs. Model-free multipoint linkage analysis revealed evidence for a significant QTL for performance IQ at 2q24.1-q31.1 (INTLQ2; {610294}) and a second region of suggestive linkage for both full-scale and verbal IQs at 6p25.3-p22.3 (INTLQ3) (lod score of 3.20 for full-scale IQ and 2.33 for verbal IQ), which marginally overlaps with the 6p22.3-p21.31 region implicated in reading disability and dyslexia (see {600202})." +610313,"Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by {2:Hahn et al., 2010}). {1:Buers et al. (2020)} provided a detailed review of Crisponi/CISS, including clinical features and evolution of the disease, noting that signs and symptoms in infancy can be severe and result in early death; clinical and genetic diagnoses. The authors also discussed pathogenesis, differential diagnosis, and recommended management and treatment.\n\n{1:Buers et al. (2020)} provided a detailed review of Crisponi/CISS, including clinical features, diagnosis, and evolution of the disease, differential diagnosis, pathogenesis, and recommended management and treatment.\n\nFor a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 ({272430})." +610319,"{1:Megarbane et al. (2006)} reported a consanguineous Lebanese family in which 2 cousins had severe scoliosis with multiple other skeletal anomalies and retinitis pigmentosa. Both individuals had postnatal short stature, short neck, rhizomelic shortening of the limbs, particularly the upper limbs. and strabismus. Radiographic findings included short humeri, prominent deltoid tuberosities of the humeri, short and wide ribs and clavicles, biconcave vertebral bodies of the thoracolumbar spine, and narrowed lumbar canal. One patient had amelogenesis imperfecta. There was no bone age delay, and intelligence was normal. {1:Megarbane et al. (2006)} distinguished the disorder in this family from other syndromes with skeletal dysplasia and eye abnormalities." +610320,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +610321,"For a general discussion of hereditary prostate cancer, see {176807}." +610329,"Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by {2:Vogt et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 ({225750})." +610353,"Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by {1:Aridon et al., 2006}). Some patients with CHRNA2 mutations may have a slightly different phenotype that is more consistent with a clinical diagnosis of benign familial infantile seizures (BFIS6) ({3:Trivisano et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal lobe epilepsy, see ENFL1 ({600513}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764})." +610356,"Cone dystrophy with supernormal rod responses (CDSRR) is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field. Nyctalopia is a later feature of the disorder. There is often retinal pigment epithelium disturbance at the macula with a normal retinal periphery. Autofluorescence (AF) imaging shows either a perifoveal ring or a central macular area of relative increased AF (summary by {1:Michaelides et al., 2005})." +610357,"Spastic paraplegia-30 (SPG30) is a neurologic disorder characterized by onset of slowly progressive spastic paraplegia in the first or second decades of life. Affected individuals have unsteady spastic gait and hyperreflexia of the lower limbs. Some patients have a 'pure' form of the disorder, limited to spastic paraplegia, whereas others may have a 'complicated' form that includes cognitive dysfunction, learning disabilities, or behavioral abnormalities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy with thin corpus callosum on brain imaging. The phenotypic features represent a spectrum of abnormalities of the central, peripheral, and autonomic nervous system (summary by {6:Pennings et al., 2020}).\n\nFor a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +610361,"For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see {119530}." +610377,"Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; {EC 2.7.1.36}). Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which is catalyzed by mevalonate kinase. Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase ({142910}).\n\nMevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome (HIDS; {260920}), which is also caused by mutation in the MVK gene (summary by {9:Prietsch et al., 2003})." +610379,"WNV is an enveloped, neurotropic, single-stranded sense RNA flavivirus that is naturally maintained in a zoonotic cycle between avian hosts and mosquito vectors. The virus was first isolated from a Ugandan woman in 1937 and subsequently emerged in Europe and, in 1999, in New York, with eventual spread throughout North America. WNV causes a spectrum of disease ranging from acute fever to lethal encephalitis. Susceptibility to WNV is increased in the elderly and in immunocompromised individuals (summary by {4:Diamond and Klein (2006)} and {5:Glass et al. (2005)})." +610382,"Prosopagnosia is the inability to recognize someone by the face alone, in the absence of sensory or intellectual impairment ({10:Schwarzer et al., 2007}). Almost all reported cases are of the acquired form, but there is evidence for a familial form as well ({9:McConachie, 1976}; {2:de Haan, 1999}; {5:Galaburda and Duchaine, 2003}; {6:Kennerknecht et al., 2006})." +610420,"A preauricular tag is a small excrescence of skin that contains elastic cartilage most commonly located anterior to the tragus, although it can be located on different regions of the ear helix and/or face ({2:Yang et al., 2006}). Other synonymous terms include preauricular appendage, accessory tragus ({1:Tunkel, 2007}), and less commonly, accessory auricle ({2:Yang et al., 2006})." +610422,"For a discussion of genetic heterogeneity of alopecia-intellectual disability syndrome, see APMR1 ({203650})." +610424,"HBV is a DNA virus that enters the liver via the bloodstream, and replication occurs only in liver tissue. Transmission occurs by percutaneous or mucosal exposure to infected blood or other body fluids. Approximately one third of all cases of cirrhosis and half of all cases of hepatocellular carcinoma (HCC; {114550}) can be attributed to chronic HBV infection. Worldwide, 2 billion people have been infected with HBV, 360 million have chronic infection, and 600,000 die each year from HBV-related liver disease or HCC. However, there is marked geographic variability in HBV prevalence, with chronic infection affecting less than 2% of the populations of North America and western and northern Europe; between 2 and 7% of the populations of eastern and central Europe, the Amazon basin, the Middle East, and the Indian subcontinent; and more than 8% of the populations of Asia, sub-Saharan Africa, and the Pacific ({8:Seeff and Hoofnagle, 2006}; {9:Shepard et al., 2006})." +610425,"Mutation in the CRYBA4 gene has been found in families with cataract described as congenital, lamellar, and nuclear." +610427,"Congenital nonprogressive cone-rod synaptic disorder is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses ({6:Traboulsi, 2013}; {4:Khan, 2014})." +610430,"For a phenotypic description and a discussion of genetic heterogeneity of susceptibility to Waldenstrom macroglobulinemia, see {153600}." +610438,"Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation ({1:Bonati et al., 2003}).\n\nFor additional information and a discussion of genetic heterogeneity of restless legs syndrome, see RLS1 ({102300})." +610439,"Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation ({1:Bonati et al., 2003}).\n\nFor additional information and a discussion of genetic heterogeneity of restless legs syndrome, see RLS1 ({102300})." +610441,"Testicular microlithiasis, the deposition of calcium phosphate microliths within the seminiferous tubules, has a population prevalence of 0.6 to 9% ({3:Kim et al., 2003}). {5:Middleton et al. (2002)} found that it was associated with a majority of primary testicular malignancies. {6:Miller and Sidhu (2002)} found that it was present in 1% of male idiopathic infertility cases." +610442,"Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses (summary by {4:van Karnebeek et al., 2016})." +610443,"Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by {7:Koolen et al., 2012})." +610446,"Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis ({607948}) and leprosy ({246300}). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River ({4:Clancey et al., 1961}; {1:Barker, 1971}). The disease was first described in the medical literature in 1948 in a report on patients in Australia ({6:MacCallum et al., 1948}). Patients have also been reported from tropical areas in Latin America and Asia ({8:Stienstra et al., 2006}; {9:van der Werf et al., 2005})." +610448,"Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; {152700}) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by {5:Lee-Kirsch et al., 2006}).\n\n<Subhead> Genetic Heterogeneity of Chilblain Lupus\n\nSee also CHBL2 ({614415}), caused by mutation in the SAMHD1 gene ({606754}) on chromosome 20q11.\n\nMutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, {225750} and AGS5, {612952}, respectively)." +610452,"Mutagen sensitivity has been found to be increased in patients with environmentally related cancers, including cancers of the head and neck, lung, and colon. In combination with carcinogenic exposure, this susceptibility can greatly influence cancer risk. {2:Hsu et al. (1989)} reported that susceptibility to bleomycin-induced (see {602403}) chromatid breaks in cultured peripheral blood lymphocytes may reflect the way a person deals with carcinogenic challenges. {1:Cloos et al. (1999)} determined the number of bleomycin-induced breaks per cell for 135 healthy volunteers without cancer. These individuals were from 53 different pedigrees and included 25 monozygotic (MZ) twin pairs, 14 dizygotic (DZ) twin pairs, and 14 families selected on the basis of a first-degree relative who was successfully treated for head and neck cancer and who had no sign of recurrence for at least 1 year. Results showed no evidence for the influence of a shared family environment on bleomycin-induced chromatid breaks. On the other hand, genetic influences were statistically significant and accounted for 75% of the total variance.\n\n{3:Wu et al. (2006)} used a classic twin study to examine the role of genetic and environmental factors on the mutagen sensitivity phenotype. Mutagen sensitivity was measured in peripheral blood lymphocytes from 460 individuals (148 pairs of monozygotic twins, 57 pairs of dizygotic twins, and 50 sibs). Intraclass correlation coefficients were all significantly higher in MZ twins than in dizygotes (DZ pairs and MZ-sib pairs combined) for sensitivity to 4 different mutagen challenges. Applying biometric genetic modeling, {3:Wu et al. (2006)} calculated a genetic heritability of 40.7%, 48.0%, 62.5%, and 58.8% for bleomycin, benzo(a)pyrene diol epoxide, gamma-radiation, and 4-nitroquinoline-1-oxide sensitivity, respectively. This study provided strong and direct evidence that mutagen sensitivity is highly heritable, thereby validating the use of mutagen sensitivity as a cancer susceptibility factor." +610460,"THPM1 is an autosomal recessive trait associated with severe hematopoietic toxicity when patients are treated with standard doses of the antineoplastic agents 6-mercaptopurine (6MP) or 6-thioguanine (6TG), or the immunosuppressant azathioprine (AZA) ({12:Lennard et al., 1989}).\n\nThe thiopurines are prodrugs that require extensive metabolism in order to exert their cytotoxic action. Azathioprine is nonenzymatically reduced to 6MP. 6MP and 6TG are activated by HPRT ({308000}) and subsequent steps to form cytotoxic thioguanine nucleotides (TGNs) which are incorporated into DNA and/or RNA, causing DNA-protein cross-links, single-strand breaks, interstrand cross-links, and sister chromatid exchange. TPMT functions mainly to inactivate these drugs; thus, a deficiency of TPMT results in increased conversion to toxic TGNs, which can result in myelosuppression ({3:Coulthard and Hogarth, 2005}). However, 6MP is unique in that it can also be converted via TPMT into a methyl-thioinosine 5-prime monophosphate (MeTIMP), a metabolite that inhibits de novo purine synthesis and likely contributes to the cytotoxic effect of 6MP ({17:Vogt et al., 1993}; {7:Krynetski et al., 1995}; {3:Coulthard and Hogarth, 2005}).\n\n<Subhead> Genetic Heterogeneity of Poor Thiopurine Metabolism\n\nSee also THPM2 ({616903}), caused by variation in the NUDT15 gene ({615792}) on chromosome 13q14." +610489,"Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1; {160980}), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation ({3:Groussin et al., 2002}).\n\n<Subhead> Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical Disease\n\nSee also PPNAD2 ({610475}), caused by mutation in the PDE11A gene ({604961}) on chromosome 2q31; PPNAD3 ({614190}), caused by mutation in the PDE8B gene ({603390}) on chromosome 5q13; and PPNAD4 ({615830}), caused by a duplication on chromosome 19p13 that includes the PRKACA gene ({601639})." +610504,"Preterm premature rupture of the membranes is defined as rupture of membranes before 37 weeks of gestation, which occurs in approximately 3% of all pregnancies and accounts for about one-third of spontaneous preterm births ({1:ACOG Practice Bulletin, 1998}). {4:Srinivas and Macones (2005)} reviewed the pathophysiology of PPROM and noted that familial clustering and ethnic differences in the incidence of PPROM suggest possible genetic influences." +610535,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}." +610536,"Mandibulofacial dysostosis with microcephaly is a rare syndrome comprising progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate (summary by {6:Lines et al., 2012})." +610542,"Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by {9:Senderek et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +610551,"Herpes simplex virus (HSV)-1 is most often associated with infection of the oral mucosa. Primary infection is most commonly asymptomatic, but it may lead to symptoms usually involving the mucosa and skin. Following replication at the infection site, HSV-1 enters the epithelial endings of sensory neurons and travels up the trigeminal cranial nerves to the trigeminal ganglia, where latent infection is established. Reactivation of HSV-1, usually in the form of herpes labialis (cold sores), may occur in 20 to 40% of the population. HSV-1 seroprevalence is high, with over 85% of adults between the ages of 20 and 40 years infected. HSV-1 rarely infects the central nervous system (CNS), resulting in herpes simplex encephalitis (HSE), with an incidence of 2 to 4 per 1,000,000 people per year. In HSE, HSV-1 invades and replicates in neurons and glial cells, where focal necrotizing infections occur, primarily affecting the temporal and subfrontal regions of the brain. Untreated, HSE is fatal in at least 70% of cases, although the mortality and morbidity have been drastically reduced with antiviral therapy. Approximately one-third of all HSE cases are due to primary infections, and 30% of all HSE cases occur in children under the age of 20 years. Among children, HSE peaks between 3 months and 3 years of age, coinciding with the time of primary infection. In a subset of children, HSE results from a series of monogenic primary immunodeficiencies that impair UNC93B1- and TLR3 ({603029})-dependent production of IFNA ({147660})/IFNB ({147640}) and IFNG ({147570}) in the CNS (summary by {7:Sancho-Shimizu et al., 2007}).\n\n<Subhead> Genetic Heterogeneity of Susceptibility to Acute Infection-Induced Encephalopathy, including Herpes Simplex Encephalitis (HSE)\n\nFor other forms of susceptibility to acute infection-induced encephalopathy, see herpes-specific IIAE2 ({613002}), caused by mutation in the TLR3 gene ({603029}) on chromosome 4q35; IIAE3 ({608033}), caused by mutation in the RANBP2 gene ({601181}) on chromosome 2q12; IIAE4 ({614212}), caused by mutation in the CPT2 gene ({600650}) on chromosome 1p32; herpes-specific IIAE5 ({614849}), caused by mutation in the TRAF3 gene ({601896}) on chromosome 14q32; herpes-specific IIAE6 ({614850}), caused by mutation in the TICAM1 gene ({607601}) on chromosome 19p13; herpes-specific IIAE7 ({616532}), caused by mutation in the IRF3 gene ({603734}) on chromosome 19q13; herpes-specific IIAE8 ({617900}), caused by mutation in the TBK1 gene ({604834}) on chromosome 12q14; IIAE9 ({618426}), caused by mutation in the NUP214 gene ({114350}) on chromosome 9q34; herpes-specific IIAE10 ({619396}), caused by mutation in the SNORA31 ({619378}) on chromosome 13q14; and IIAE11 ({619441}), caused by mutation in the DBR1 gene ({607024}) on chromosome 3q22." +610600,"CMO type II deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB ({10:Portrat-Doyen et al., 1998}).\n\nThe CYP11B2 gene product also catalyzes an earlier step in aldosterone biosynthesis: the 18-hydroxylation of corticosterone to 18-OHB. A defect in that enzymatic step results in CMO type I deficiency ({204300}), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal ({10:Portrat-Doyen et al., 1998})." +610618,"Hereditary angioedema-3 (HAE3) is a rare disorder characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women and is often precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives). Both concentration and function of C1 inhibitor (C1NH; {606860}) are normal (summary by {5:Dewald and Bork, 2006}).\n\nFor a discussion of genetic heterogeneity of HAE, see {106100}." +610623,"Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as congenital total and posterior polar.\n\nThe preferred title/symbol for this entry was formerly 'Cataract, Posterior Polar, 4; CTPP4.'" +610628,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {5:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}." +610629,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650})." +610651,"For a general discussion of xeroderma pigmentosum, see XPA ({278700}), and of Cockayne syndrome, see CSA ({216400}).\n\n{1:Cleaver (1990)} provided a review of the causes of xeroderma pigmentosum." +610655,"For a general phenotypic description and a discussion of genetic heterogeneity of hereditary hemorrhagic telangiectasia (HHT), see HHT1 ({187300})." +610676,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({1:Bailey et al., 1996}; {5:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({3:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({6:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +610682,"Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by {2:Barnes et al., 2006})." +610685,"For a general phenotypic description and discussion of genetic heterogeneity of split-hand/foot malformation with long bone deficiency, see SHFLD1 ({119100})." +610687,"Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by {2:Ockeloen et al., 2012}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see {161800}." +610688,"Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa ({5:Romano et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}." +610707,"For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 ({177900})." +610708,"OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by {2:Gerber et al., 2017}).\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500})." +610717,"Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by {5:Reilich et al., 2011}).\n\nNeutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS; {275630}) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by {2:Fischer et al., 2007})." +610725,"Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) ({4:Hinkes et al., 2006}).\n\nMost patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen ({2:Gbadegesin et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300})." +610733,"Noonan syndrome-4 (NS4) is an autosomal dominant disorder characterized by a variable phenotype comprising short stature, congenital heart defects, and facial dysmorphisms (summary by {1:Ferrero et al., 2008}). Patients often have ectodermal anomalies, such as keratitis pilaris, curly hair, and ocular ptosis ({5:Tartaglia et al., 2007}; {8:Zenker et al., 2007})." +610738,"Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by {1:Boztug et al., 2010}).\n\nThe Swedish physician Rolf {15:Kostmann (1956)} described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome ({19:Skokowa et al., 2007}). {17:Lekstrom-Himes and Gallin (2000)} discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.\n\nIn addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia ({257100}), Chediak-Higashi syndrome ({214500}), and Fanconi pancytopenic syndrome (see {227650}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 ({202700})." +610743,"Autosomal recessive spinocerebellar ataxia-8 (SCAR8) is a slowly progressive neurodegenerative disorder characterized by gait ataxia and other cerebellar signs, such as nystagmus and dysarthria. The age at onset is highly variable, and but most often is in the second or third decades. The disorder was initially identified in patients of French Canadian descent, most of whom have a relatively 'pure' form of the disorder. However, subsequent studies have shown that SCAR8 occurs worldwide and most commonly manifests with additional features, including spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies, consistent with a 'complicated' phenotype. Brain imaging typically shows cerebellar atrophy, sometimes with pontine involvement. Rare patients may have an early-onset multisystemic disorder with impaired intellectual development and respiratory dysfunction (summary by {4:Synofzik et al., 2016})." +610753,"For a phenotypic description and a discussion of genetic heterogeneity of alopecia areata, see {104000}." +610758,"Cerebrooculofacioskeletal syndrome-4 is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by {1:Jaspers et al., 2007} and {2:Kashiyama et al., 2013}).\n\nFor a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see {214150}." +610759,"Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and impaired intellectual development, hypertrichosis, and sometimes distal limb malformations (summary by {3:Gil-Rodriguez et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}." +610773,"Mitochondrial phosphate carrier deficiency (MPCD) is an autosomal recessive disorder characterized by onset of cardiorespiratory insufficiency soon after birth. Patients usually require intervention in the neonatal period. The disorder may result in death in infancy, although those that survive have stabilization or amelioration of symptoms with age. Most affected individuals have hypotonia, delayed motor development, and exercise intolerance, but cognitive development is normal. Laboratory studies typically show increased serum lactate, although this may not be present. Muscle biopsy shows abnormal mitochondria and lipid accumulation. There is phenotypic variability likely depending on the location of the mutation (summary by {1:Bhoj et al., 2015})." +610797,"{1:Baumann et al. (2003)} described a pair of dizygotic twins, born to consanguineous parents, with severely delayed skeletal maturation with normal stature (+1 to +2 SD). Bilateral ulnar deviation of the fingers, which was noted neonatally in 1 brother, resolved by 4 years of age. Beginning at age 3 years, both boys complained of diffuse lower limb pain, and the parents noted easy fatigability. Physical exam of the brothers at age 4 years revealed generalized joint laxity, especially in the hands and elbows, genua valga, and flat feet. The fingers were long with square tips and fifth finger clinodactyly. Neurologic exam was normal but both brothers were described as clumsy. Skeletal survey revealed marked delay in bone maturation. Hand skeletal maturation was delayed with no epiphyseal nuclei except 2 pseudoepiphyses on the 2nd and 3rd metacarpals. The feet showed similar delays with ossification of only the talus, calcaneus, and cuboid bones. Radiographs of the pelvis demonstrated narrow iliac wings, marked delay of ossification of the iliopubic and ischiopubic rami, small irregular horizontal roofs, broad femoral necks with mild valgus, and small irregular femoral epiphyses. Mild metaphyseal irregularities with flaring were noted on the upper femoral and lower tibial metaphyses. {1:Baumann et al. (2003)} suggested autosomal recessive inheritance because of the occurrence in 2 sibs of consanguineous parents." +610805,"Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a broad spectrum of renal and urinary tract malformations. CAKUT structural anomalies range from complete renal agenesis (the most severe), to renal hypodysplasia, multicystic kidney dysplasia, duplex renal collecting system, ureteropelvic junction obstruction (UPJO), megaureter, posterior urethral valves (PUV), and vesicoureteral reflux (VUR). Renal abnormalities are observed in close relatives of up to 10% of CAKUT patients, although these are frequently asymptomatic. The phenotype often does not follow classic mendelian inheritance: family members with the same genetic defect may have variable phenotypes, ranging from severe renal insufficiency to asymptomatic anomalies. CAKUT occurs in about 1 in 500 live births, but are severe enough to cause neonatal death in about 1 in 2,000 births. In addition, CAKUT can occur in syndromic disorders in association with other congenital anomalies, such as papillorenal syndrome ({120330}) (summary by {11:Renkema et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Congenital Anomalies of Kidney and Urinary Tract\n\nAlso see CAKUT2 ({143400}), caused by mutation in the TBX18 gene ({604613}) on chromosome 6q14, and CAKUT3 ({618270}), caused by mutation in the NRIP1 gene ({602490}) on chromosome 21q." +610828,"Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated ({4:Ming et al., 2002}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 ({236100})." +610829,"Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by {7:Roessler et al., 2003} and {1:Bertolacini et al., 2012}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 ({236100})." +610830,"{1:Kantaputra et al. (2006)} described a 'new' bone disorder consisting of polyostotic expansile osteolysis affecting long bones and iliac bones and hyperostosis of the skull, thoracic cage, and medial portion of both clavicles. Other features included pectus carinatum, clubbing of the fingers and toes, gigantiform synovial masses of the elbows and knees, atrial septal defect and cardiomegaly, unilateral cryptorchidism, and mental deficiency. They named the condition polyosteolysis-hyperostosis syndrome. The patient shared some features in common with juvenile Paget disease ({239000}), but direct sequencing of the TNFRSF11B gene ({602643}) failed to identify a mutation. The condition was thought to be autosomal recessive, because the parents were first cousins." +610832,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +610836,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({1:Bailey et al., 1996}; {6:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({4:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({7:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +610838,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({1:Bailey et al., 1996}; {4:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({2:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({5:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +610839,"For a phenotypic description and a discussion of genetic heterogeneity of osteoarthritis, see OS1 ({165720})." +610840,"Patients with mitral valve prolapse-3 (MVP3) have nonsyndromic MVP of variable severity with an autosomal dominant pattern of inheritance.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 ({157700})." +610871,"{5:Sakoda et al. (1979)} reported an infant boy with sphenoethmoidal meningoencephalocele associated with agenesis of the corpus callosum (ACC) and median cleft lip and palate. The authors suggested that this combination represented a distinct type of congenital anomaly.\n\n{2:Ehara et al. (1998)} reported a Japanese male infant with sphenoethmoidal encephalomeningocele (SEEM), agenesis of the corpus callosum, and cleft lip and palate, consistent with Sakoda complex. In addition, however, the patient had also had intractable seizures, bilateral anophthalmia, facial dysmorphism, severe mental retardation, short stature, hemivertebrae, and scoliosis. Brain imaging showed hypoplasia of the left cerebral hemisphere and cortical dysgenesis. In a review of the literature, {2:Ehara et al. (1998)} classified 21 similar patients into 4 groups: (1) basal encephalomeningocele associated with ACC; (2) Sakoda complex (SEEM, ACC, and cleft lip/palate); (3) Sakoda complex with optic dysplasia, including the morning glory optic anomaly; and (4) Sakoda complex with bilateral anophthalmia, cortical dysgenesis, mental retardation, and severe epilepsy. These findings suggested a phenotypic spectrum in which the patient reported by {2:Ehara et al. (1998)} represented the most severe end.\n\n{1:Dempsey et al. (2007)} reported 2 unrelated male infants with features reminiscent of the Sakoda complex. The first patient had right microphthalmia, dysmorphic facies, basal encephalocele, cleft palate, partial agenesis of the corpus callosum, and bilateral optic nerve hypoplasia. Other features included hemivertebrae, severe epilepsy, atrial septal defect, and mild kidney anomalies. The second infant had sphenoethmoidal encephalocele and absence of the right orbital structures and right cerebral hemispheric structures. He also had a bifid thumb. Although several authors have described an association between basal encephalocele and the morning glory optic anomaly (see, e.g., {4:Koenig et al., 1982} and {3:Itakura et al., 1992}), {1:Dempsey et al. (2007)} noted that their patients did not have the morning glory disc anomaly. However, they suggested that these disorders may have a common genetic etiology." +610873,"Age at menarche is a marker of timing of puberty in females. It varies widely between individuals and is a heritable trait (summary by {2:Perry et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Age at Menarche\n\nAge at menarche has been associated with variation on chromosome 22q13. Other quantitative trait loci (QTLs) associated with age at menarche include MENAQ2 ({612882}) on chromosome 6q21 and MENAQ3 ({612883}) on chromosome 9q31." +610883,"Potocki-Lupski syndrome is a developmental disorder characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, and congenital anomalies. All reported cases have occurred sporadically without bias in the parental origin of rearrangements. Most duplications are 3.7 Mb in size and only identifiable by array comparative genomic hybridization (CGH) analysis. Approximately 60% of PTLS patients harbor a microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.7-Mb microdeletion in SMS (summary by {12:Shchelochkov et al., 2010})." +610898,"For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 ({601104})." +610906,"Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis ({3:Laitinen et al., 2001}; {2:Illig and Wjst, 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}, and of allergic rhinitis, see {607154}." +610908,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({1:Bailey et al., 1996}; {4:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({2:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({5:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +610910,"Pulmonary alveolar proteinosis is a pathologic entity characterized by intraalveolar surfactant accumulation. There are 3 clinically distinct forms: hereditary (usually congenital), secondary, and acquired. The acquired form of pulmonary alveolar proteinosis is the most common form, accounting for approximately 90% of cases. The mean age at diagnosis is 39 years and it is associated with smoking in 72% of cases. The estimated incidence and prevalence are 0.36 and 3.70 cases per million, respectively ({8:Trapnell et al., 2003}; {6:Seymour and Presneill, 2002}).\n\nSecondary pulmonary alveolar proteinosis develops in association with conditions involving functional impairment or reduced numbers of alveolar macrophages. Such conditions include some hematologic cancers, pharmacologic immunosuppression, inhalation of inorganic dust or toxic fumes, and certain infections. Congenital pulmonary alveolar proteinosis is a rare, severe, often fatal disorder of newborns associated with pulmonary surfactant metabolism dysfunction caused by mutations in genes involved in surfactant metabolism (see, e.g., SMDP1, {265120}) ({8:Trapnell et al., 2003}).\n\nSee {300770} for information on congenital PAP due to CSF2RA ({306250}) deficiency." +610913,"Pulmonary surfactant metabolism dysfunction-2 (SMDP2) is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein ({11:Thomas et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 ({265120})." +610915,"Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {3:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}). {2:Cabral et al. (2007)} described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses." +610921,"For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 ({265120})." +610926,"For a general phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 ({106600})." +610948,"For a phenotypic description and a discussion of genetic heterogeneity of essential hypertension, see {145500}.\n\n{1:Koivukoski et al. (2004)} applied the genome-search metaanalysis method (GSMA) to 9 published genomewide scans, 5 of blood pressure (BP) and 4 of hypertension, from Caucasian populations. A weighting factor was introduced to take into account differences in individual study sample size. Chromosome 3p14.1-q12.3 showed consistent evidence of linkage to hypertension (unweighted P = 0.0001), diastolic BP (unweighted P = 0.007), hypertension and diastolic BP pooled (unweighted P = 0.00002), and hypertension and systolic BP pooled (unweighted P = 0.0003). Chromosome 2p12-q22.1 also showed some evidence of linkage to hypertension, diastolic BP, hypertension and diastolic BP pooled, and hypertension and systolic BP pooled. The summed ranks of the hypertension analysis correlated significantly with those of the diastolic BP but not with those of the systolic BP. The authors concluded that modest or nonsignificant linkage on chromosomes 3p14.1-q12.3 and 2p12-q22.1 in each individual study translated into genomewide-significant or highly suggestive linkages to hypertension and diastolic BP in their genome-search metaanalysis." +610951,"The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by {6:Mole et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730})." +610954,"The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea ({14:Zweier et al., 2007}).\n\nSee also Pitt-Hopkins-like syndrome-1 ({610042}), caused by mutation in the CNTNAP2 gene ({604569}) on chromosome 7q35, and Pitt-Hopkins-like syndrome-2 ({600565}), caused by mutation in the NRXN1 gene ({600565}) on chromosome 2p16.3." +610967,"Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {14:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}).\n\n{5:Glorieux et al. (2000)} described a novel autosomal dominant form of OI, which they designated OI type V (OI5), in 7 patients. The disorder was similar to OI type IV but had distinctive clinical, histologic, and molecular characteristics. OI type V is characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation (summary by {2:Cho et al., 2012}). OI type V has a variable phenotype. For example, in patients with the more common c.-14C-T variant ({614757.0001}), distinctive radiographic findings (calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation) are often seen, whereas these findings are not seen in patients with the less common S40L variant ({614757.0002})." +610968,"Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by {1:Alanay et al., 2010})." +610978,"Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) is an autosomal dominant disorder characterized by onset of this triad of features in infancy. Movement abnormalities begin with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria. Some patients show neonatal respiratory distress and developmental delay. The phenotype is variable both between and within families (summary by {8:Thorwarth et al., 2014})." +610984,"Hereditary deficiency of complement factor I is associated with a propensity to pyogenic infection and usually follows an autosomal recessive pattern of inheritance ({10:Vyse et al., 1996}). A subset of patients with CFID develop a renal disease termed 'C3 glomerulopathy' (C3G2), which is characterized by glomerular deposition of C3 observed on renal biopsy. Affected individuals have hematuria and proteinuria with variable progression of renal dysfunction (summary by {8:Servais et al., 2007}).\n\nFor a discussion of genetic heterogeneity of C3G, see C3G1 ({609814}), also known as complement factor H deficiency." +610992,"Deficiency of phosphoserine aminotransferase (PSAT) is characterized biochemically by low plasma and cerebrospinal fluid (CSF) concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. Outcome is poor once the individual becomes symptomatic, but treatment with serine and glycine supplementation from birth can lead to a normal outcome ({2:Hart et al., 2007})." +611010,"Hereditary gingival fibromatosis is a benign disorder manifested by a slowly progressive overgrowth of the oral gingival tissues, which results in the teeth being partially or totally engulfed by keratinized gingiva (summary by {1:Zhu et al., 2007}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF1 ({135300})." +611014,"For a phenotypic description and a discussion of genetic heterogeneity of essential hypertension, see {145500}." +611015,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({1:Bailey et al., 1996}; {11:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({6:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({12:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +611016,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({2:Bailey et al., 1996}; {9:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({6:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({10:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +611031,"For a general phenotypic description and a discussion of genetic heterogeneity of episodic kinesigenic dyskinesia (EKD), also referred to as paroxysmal kinesigenic choreoathetosis (PKC), see EKD1 ({128200})." +611046,"For a general discussion of susceptibility to Mycobacterium tuberculosis (TB), see {607948}." +611064,"Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis ({4:Laitinen et al., 2001}; {3:Illig and Wjst, 2002}; {5:Pillai et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}." +611073,"For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see {104300}." +611100,"For a general discussion of hereditary prostate cancer, see {176807}." +611102,"Deafness-infertility syndrome (DIS), characterized by early-onset deafness in both males and females and exclusive male infertility, is caused by homozygous deletion of the STRC and CATSPER2 genes on chromosome 15q15.5 (summary by {4:Vona et al., 2015})." +611105,"Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy ({5:Scheper et al., 2007}). Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline." +611126,"MC1DN20 is an autosomal recessive multisystem disorder characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with a deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts (summary by {2:Haack et al., 2010}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see {252010}." +611134,"Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by {1:Baala et al., 2007}).\n\nFor a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 ({249000})." +611136,"Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see {600669}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 ({600131}) and JME ({254770}), respectively." +611139,"For a discussion of genetic heterogeneity of coronary heart disease (CHD), see {607339}." +611147,"For a general phenotypic description of paroxysmal nonkinesigenic dyskinesia, see PNKD1 ({118800})." +611152,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}." +611154,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}." +611162,"Malaria, a major cause of child mortality worldwide, is caused by mosquito-borne hematoprotozoan parasites of the genus Plasmodium. Of the 4 species that infect humans, P. falciparum causes the most severe forms of malaria and is the major cause of death and disease. Although less fatal, P. malariae, P. ovale, and, in particular, P. vivax infections are major causes of morbidity. The parasite cycle involves a first stage in liver cells and a subsequent stage at erythrocytes, when malaria symptoms occur. A wide spectrum of phenotypes are observed, from asymptomatic infection to mild disease, including fever and mild anemia, to severe disease, including cerebral malaria, profound anemia, and respiratory distress. Genetic factors influence the response to infection, as well as disease progression and severity. Malaria is the strongest known selective pressure in the recent history of the human genome, and it is the evolutionary driving force behind sickle-cell disease ({603903}), thalassemia (see {141800}), glucose-6-phosphatase deficiency ({300908}), and other erythrocyte defects that together constitute the most common mendelian diseases of humans ({33:Kwiatkowski, 2005}; {9:Campino et al., 2006})." +611185,"Restless legs syndrome (RLS) is a neurologic disorder characterized by an uncontrollable urge to move the legs during periods of rest. The majority of patients with RLS also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. Limb movements during sleep are more common in otherwise asymptomatic family members of patients with RLS compared to the general population ({3:Stefansson et al., 2007}). Thus, periodic limb movements during sleep may serve as an endophenotype for RLS. However, not all patients with RLS have limb movements during sleep, and the majority of individuals with limb movements during sleep do not have waking symptoms of RLS ({6:Winkelman, 2007}).\n\nFor additional information and a discussion of genetic heterogeneity of RLS, see RLS1 ({102300})." +611225,"Spastic paraplegia-18 (SPG18) is a severe autosomal recessive neurologic disorder characterized by onset in early childhood of progressive spastic paraplegia resulting in motor disability. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures (summary by {3:Alazami et al., 2011} and {5:Yildirim et al., 2011})." +611228,"Charcot-Marie-Tooth disease type 4J is an autosomal recessive progressive neurologic disorder with a highly variable phenotype and onset ranging from early childhood to adulthood. Most patients have both proximal and distal asymmetric muscle weakness of the upper and lower limbs. There is significant motor dysfunction, followed by variably progressive sensory loss, which may be mild. Nerve conduction studies and nerve biopsies indicate demyelination as well as axonal loss (summary by {5:Nicholson et al., 2011}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A ({214400})." +611242,"Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation ({1:Bonati et al., 2003}).\n\nFor additional information and a discussion of genetic heterogeneity of restless legs syndrome (RLS), see RLS1 ({102300})." +611247,"For a phenotypic description and a discussion of genetic heterogeneity of bipolar disorder, see {125480}." +611263,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {4:Huber and Cormier-Daire, 2012} and {5:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500})." +611274,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}." +611276,"For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see {137760}." +611284,"Focal dystonia, the most common form of dystonia, is often task-specific and referred to as FTSD. Specific learned motor tasks, such as writing or playing a musical instrument, can trigger muscle spasms and interfere with performance while other actions are unaffected. FTSD has a frequency of 1 in 3,400 in the general population but increases to 1 in 200 among musicians ({1:Pullman and Hristova, 2005})." +611302,"Autosomal recessive spastic ataxia is a neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected (summary by {2:Dor et al., 2014}).\n\nFor a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 ({108600})." +611308,"Persistent hyperplastic primary vitreous (PHPV) is a developmental malformation of the eye due to the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmos, cataract, and glaucoma ({2:Haddad et al., 1978}).\n\nFor a discussion of genetic heterogeneity of PHPV, see {221900}." +611364,"For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy (JME), see {254770}. JME is a form of idiopathic generalized epilepsy (IGE; {600669})." +611377,"Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly (summary by {2:Lehmann et al., 2007})." +611381,"For a general phenotypic description and a discussion of genetic heterogeneity of kala-azar, which is also known as visceral leishmaniasis, see {608207}." +611382,"For a general phenotypic description and a discussion of genetic heterogeneity of kala-azar, which is also known as visceral leishmaniasis, see {608207}." +611383,"Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes ({4:Eudy et al., 1998}).\n\nSee {276900} for clinical characterization of Usher syndrome types I, II, and III.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A ({276901})." +611384,"For general information on malaria and the influence of genetic factors on malaria susceptibility, progression, severity, and resistance, see {611162}." +611391,"Mutations in the BFSP1 gene have been found to cause multiple types of cataract, which have been described as cortical, nuclear, and progressive punctate lamellar. Both autosomal dominant and autosomal recessive modes of inheritance have been reported." +611403,"Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis ({5:Laitinen et al., 2001}; {4:Illig and Wjst, 2002}; {10:Pillai et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}." +611431,"Legius syndrome is an autosomal dominant disorder that shows some similarities to neurofibromatosis type I (NF1; {162200}), which is caused by mutation in the neurofibromin gene ({613113}); however, Legius syndrome is less severe. Individuals with Legius syndrome typically have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as hypertelorism or macrocephaly, lipomas, and mild learning disabilities or attention problems. Legius syndrome is not associated with neurofibromas, optic gliomas, Lisch nodules, or tumor predisposition. The SPRED1 gene encodes a negative regulator of the RAS-MAPK pathway, similar to neurofibromin, and thus may be considered a RASopathy (review by {2:Brems et al., 2012})." +611456,"For a phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 ({190300})." +611469,"For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see {114500}." +611488,"For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see ARMD1 ({603075})." +611493,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}." +611494,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({2:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}." +611515,"For a phenotypic description of familial febrile seizures and a discussion of genetic heterogeneity of this disorder, see FEB1 ({121210})." +611521,"Immunodeficiency-35 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to localized or disseminated mycobacterial infection after BCG vaccination. Some patients may have increased susceptibility to infection with other intracellular organisms and/or viral infections. Fungal infections are not observed. Laboratory studies show normal levels of immune cells but defective signaling in specific immunologic pathways (summary by {2:Kreins et al., 2015})." +611522,"Elevated intraocular pressure (IOP) is associated with a higher risk of glaucoma. {1:Duggal et al. (2007)} performed a genomewide scan of IOP in 486 pedigrees ascertained through the Beaver Dam Eye Study (population from Beaver Dam, Wisconsin). The strongest evidence of linkage was found on chromosome 19p near marker D19S586, with an empirical multipoint P value of 6.1 x 10(-5). Six other regions of interest were identified on chromosomes 2, 5, 6, 7, 12, and 15." +611523,"Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay ({1:Edvardson et al., 2007}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596})." +611535,"For a phenotypic description and a discussion of genetic heterogeneity of bipolar disorder, see {125480}." +611536,"For a phenotypic description and a discussion of genetic heterogeneity of bipolar disorder, see {125480}." +611544,"Mutations in the CRYBB1 gene have been found to cause multiple types of cataract, which have been described as congenital nuclear, congenital nuclear with anterior and posterior Y-suture and polar opacities, and pulverulent.\n\nThe preferred title/symbol for this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 3; CATCN3.'" +611547,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +611555,"{1:Faqeih et al. (2007)} described a family in which 4 of 11 sibs (3 males, 1 female), born to first-cousin Arab parents, had distal renal tubular acidosis (dRTA), nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facies. Another sib, a male, had died at 1 week of age with severe hydrops and renal failure, and 6 others were unaffected. The facial features included prominent cheeks, large bulbous nose, thickened alae nasi, well-defined philtrum, protruding tongue, and open mouth. The facial profile tended to become more characteristic with age. The affected sibs presented with early developmental delay and later demonstrated severe mental retardation with stereotypic hand movements, self-mutilation, hyperactivity, and impulsivity. MRI revealed dilated ventricles and hypomyelination. All had proteinuria, hypercalciuria, hypercalcemia, and normal anion-gap metabolic acidosis. Renal ultrasound revealed small kidneys, with varying degrees of hyperechogenicity and nephrocalcinosis. {1:Faqeih et al. (2007)} proposed autosomal recessive inheritance of this apparently novel disorder." +611571,"For a phenotypic description and a discussion of genetic heterogeneity of otosclerosis, see OTSC1 ({166800})." +611572,"For a phenotypic description and a discussion of genetic heterogeneity of otosclerosis, see OTSC1 ({166800})." +611584,"Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by {9:Read and Newton, 1997}). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene ({602229}), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS3 ({148820}), and WS4 ({277580})." +611588,"MDDGC4 is an autosomal recessive muscular dystrophy with onset in infancy or early childhood. Cognition and brain structure are usually normal ({2:Godfrey et al., 2006}). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({4:Mercuri et al., 2009})." +611597,"Mutations in the BFSP2 gene have been found to cause multiple types of cataract, which have been described as juvenile-onset lamellar, cortical, nuclear embryonic; and congenital nuclear, sutural, stellate, Y-sutural, and punctate cortical." +611598,"Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by {1:Farrell and Kelly, 2002}).\n\nFor additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}.\n\nFor a discussion of autoimmunity, see {109100}." +611630,"For a general description and a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL2 ({608096})." +611631,"For a general phenotypic description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see {600512}." +611634,"For a general phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 ({121210})." +611637,"Although primary lateral sclerosis (PLS) is similar to amyotrophic lateral sclerosis (ALS; {105400}), they are considered to be clinically distinct progressive paralytic neurodegenerative disorders. Following a period of diagnostic confusion, the clinical distinction between ALS and PLS became clear and diagnostic criteria were established ({3:Pringle et al., 1992}). PLS is characterized by degeneration of the upper motor neurons and the corticospinal and corticobulbar tracts, whereas ALS is a more severe disorder characterized by degeneration of both the upper and lower motor neurons.\n\nSee {606353} for autosomal recessive juvenile-onset PLS, which is caused by mutations in the ALS2 gene ({606352})." +611644,"The disorder described by {5:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}." +611702,"The spondylometaphyseal dysplasias are a relatively common, heterogeneous group of disorders characterized by spinal and metaphyseal changes of variable pattern and severity. The Kozlowski ({184252}) and Sedaghatian ({250220}) types are well defined. Many other forms have been described in single reports.\n\nThe classification of spondylometaphyseal dysplasias of {1:Maroteaux and Spranger (1991)} was based on changes of the femoral neck and the shape of vertebral anomalies. In this classification, type A4 referred to a form with severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities.\n\n{2:Verloes et al. (2002)} described 2 unrelated girls of East African origin with a severe form of SMD with rounded vertebrae. Radiologic examination revealed wide, bracket-shaped metaphyses and small, round epiphyses. The iliac wings were wide and rounded and the iliac rims had an irregular lacy appearance. Vertebral bodies were oval. {2:Verloes et al. (2002)} concluded that the phenotype in their patients was similar to SMD type A4; however, their patients did not have anterior tonguing of the vertebral bodies." +611706,"For a general phenotypic description and a discussion of genetic heterogeneity of migraine headaches, see MGR1 ({157300})." +611718,"Primary hypomagnesemia comprises a rare heterogeneous group of disorders characterized by renal or intestinal magnesium wasting that results in symptoms of magnesium depletion such as tetany and seizures. Renal hypomagnesemia-4 (HOMG4) is characterized by low serum magnesium levels, decreased urinary tubular magnesium reabsorption, seizures with onset in early infancy, and moderately impaired intellectual development (summary by {1:Geven et al., 1987}; {2:Groenestege et al., 2007}).\n\nFor a discussion of genetic heterogeneity of hypomagnesemia, see {602014}." +611721,"Combined saposin deficiency (PSAPD), a deficiency of prosaposin and saposins A, B, C, and D, is a fatal infantile storage disorder with hepatosplenomegaly and severe neurologic disease (summary by {2:Hulkova et al., 2001})." +611726,"Mutations in the KCTD7 gene cause a severe neurodegenerative phenotype characterized by onset of intractable myoclonic seizures before age 2 years and accompanied by developmental regression. The initial description was consistent with a form of progressive myoclonic epilepsy (designated here as EPM3), whereas a later report identified intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis (designated CLN14). Ultrastructural findings on skin biopsies thus appear to be variable. However, clinical features are generally consistent between reports (summary by {2:Staropoli et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 ({256730})." +611755,"Leber congenital amaurosis is a severe retinal dystrophy, causing blindness or severe visual impairment at birth or during the first months of life (summary by {3:den Hollander et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000})." +611762,"Familial cold autoinflammatory syndrome-2 (FCAS2) is an autosomal dominant autoinflammatory disorder characterized by episodic and recurrent rash, urticaria, arthralgia, myalgia, and headache. In most patients, these episodes are accompanied by fever and serologic evidence of inflammation. Most, but not all, patients report exposure to cold as a trigger for the episodes. Additional features may include abdominal pain, thoracic pain, and sensorineural deafness. The age at onset is variable, ranging from the first year of life to middle age, and the severity and clinical manifestations are heterogeneous (summary by {4:Shen et al., 2017}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial cold autoinflammatory syndrome, see FCAS1 ({120100})." +611771,"Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries ({5:Saito et al., 2006}). It mainly affects people of Japanese and Chinese origin; in these populations, it is associated with mutations in the gene that encodes apolipoprotein E (APOE; {107741}). The disorder had rarely been described in Caucasians." +611775,"Kawasaki disease is an acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy ({14:Kawasaki, 1967}). Coronary artery aneurysms develop in 15 to 25% of those left untreated ({11,12:Kato et al., 1975, 1996}), making Kawasaki disease the leading cause of acquired heart disease among children in developed countries. Treatment with intravenous immunoglobulin (IVIg) abrogates the inflammation in approximately 80% of affected individuals and reduces the aneurysm rate to less than 5%. Cardiac sequelae of the aneurysms include ischemic heart disease, myocardial infarction, and sudden death. Epidemiologic features such as seasonality and clustering of cases suggested an infectious trigger, although no pathogen had been isolated. Several lines of evidence suggested the importance of genetic factors in disease susceptibility and outcome. First, the incidence of Kawasaki disease is 10 to 20 times higher in Japan than in Western countries ({5:Cook et al., 1989}). Second, the risk of Kawasaki disease in sibs of affected children is 10 times higher than in the general population, and the incidence of Kawasaki disease in children born to parents with a history of Kawasaki disease is twice as high as that in the general population ({8:Fujita et al., 1989}; {23:Uehara et al., 2003}).\n\n{9:Hata and Onouchi (2009)} reviewed current knowledge on Kawasaki disease, including epidemiology, genomewide linkage analysis, and molecular genetics." +611777,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144})." +611783,"Familial erythrocytosis-4 (ECYT4) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration as well as elevated serum erythropoietin (EPO; {133170}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 ({133100})." +611804,"Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Usually inherited as an autosomal dominant trait, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton (summary by {24:McGuire et al., 1988}).\n\n<Subhead> Genetic Heterogeneity of Elliptocytosis\n\nElliptocytosis-2 ({130600}) is caused by mutation in the SPTA1 gene ({182860}). Elliptocytosis-3 ({617948}) is caused by mutation in the SPTB gene ({182870}). Elliptocytosis-4 ({166900}), also known as Southeast Asian ovalocytosis, is caused by mutation in the SLC4A1 gene ({109270}). Also see pyropoikilocytosis ({266140}).\n\nSee {11:Delaunay (2007)} for a discussion of the molecular basis of hereditary red cell membrane disorders." +611808,"{1:Zhang et al. (2008)} reported a 5-generation kindred in which early-onset essential tremor segregated with late-onset idiopathic normal pressure hydrocephalus (iNPH). Inheritance was autosomal dominant. Fifteen individuals had essential tremor with onset between 16 and 44 years of age. Three individuals with essential tremor over the age of 65 developed NPH. The proband, a 76-year-old man, had evidence of congenital hydrocephalus with late decompensation. Diagnosis of NPH was indicated by rapidly progressive gait impairment, enlarged ventricles, increased head circumference, and favorable response to shunting. Linkage analysis excluded known loci for essential tremor (see {190300}). {1:Zhang et al. (2008)} hypothesized that the essential tremor in this family results from abnormal function of a specific neuronal gene, which also causes the development of NPH later in life." +611816,"Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Most patients also have seizures; various dysmorphic facial features have been reported (summary by {2:Jacquinet et al., 2010})." +611818,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({2:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500})." +611820,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({2:Jongbloed et al., 1999})." +611875,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of the genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144})." +611876,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of the genetic heterogeneity in Brugada syndrome, see BRGDA1 ({601144})." +611878,"Dilated cardiomyopathy-1Y (CMD1Y) is characterized by severe progressive cardiac failure, resulting in death in the third to sixth decades of life in some patients. Electron microscopy shows an abnormal sarcomere structure ({3:Olson et al., 2001}).\n\nIn left ventricular noncompaction-9 (LVNC9), patients may present with cardiac failure or may be asymptomatic. Echocardiography shows noncompaction of the apex and midventricular wall of the left ventricle ({4:Probst et al., 2011}). Some patients also exhibit Ebstein anomaly of the tricuspid valve ({1:Kelle et al., 2016}) and some have mitral valve insufficiency ({2:Nijak et al., 2018})." +611881,"Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia ({4:Kishi et al., 1987})." +611884,"Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus ({1:Afzelius, 1976}; {3:El Zein et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 ({244400})." +611890,"Congenital arthrogryposis with anterior horn cell disease (CAAHD) is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals are usually noted to have contractures in utero on prenatal ultrasound studies, and present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency, often resulting in death in infancy or early childhood. Some patients may survive into later childhood with supportive care, but may be unable to walk or sit independently due to a combination of muscle weakness and contractures. Cognition may be normal. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy (summary by {4:Smith et al., 2017} and {5:Tan et al., 2017}).\n\n<Subhead> Distinction from Lethal Congenital Contracture Syndrome 1\n\nBiallelic mutation in the GLE1 gene can also cause LCCS1, which is lethal in utero. However, distinguishing between LCCS1 and CAAHD is controversial. {4:Smith et al. (2017)} suggested that differentiating between the 2 disorders has limited utility, and that they may represent a genotype/phenotype correlation rather than 2 different disease entities. In contrast, {3:Said et al. (2017)} concluded that LCCS1 represents a distinct clinical entity in which all affected individuals die prenatally and exhibit no fetal movements.\n\n{6:Vuopala et al. (1995)} differentiated CAAHD from LCCS1, noting that both are prevalent in Finland. LCCS1 is always fatal during the fetal period, presenting with severe hydrops and intrauterine growth retardation. In LCCS1, the spinal cord is macroscopically thinned because of an early reduction of the anterior horn and a paucity of anterior horn cells. The skeletal muscles are extremely hypoplastic, even difficult to locate. Infants with CAAHD survive longer than those with LCCS1, and when present, hydrops and intrauterine growth retardation are mild. The macroscopic findings of the central nervous system and skeletal muscles are closer to normal, although microscopic analysis also shows degeneration of anterior horn cells. In addition, birthplaces of ancestors of affected individuals do not show clustering in the northeast part of Finland, as is the case with LCCS1." +611891,"For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 ({100070})." +611892,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {4:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800})." +611897,"For a general phenotypic description and a discussion of genetic heterogeneity of nanophthalmos, see NNO1 ({600165})." +611907,"For a phenotypic description and a discussion of episodic ataxia, see EA1 ({160120})." +611934,"For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}." +611942,"Childhood absence epilepsy is a subtype of idiopathic generalized epilepsy. For a general phenotypic description and a discussion of genetic heterogeneity of childhood absence epilepsy and idiopathic generalized epilepsy, see ECA1 ({600131}) and ({600669}), respectively." +611943,"RIDDLE is an acronym for the major features of this syndrome: radiosensitivity, immunodeficiency, dysmorphic facies, and learning difficulties ({3:Stewart et al., 2007})." +611944,"Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {2:Gordon et al., 2013} and {1:Balboa-Beltran et al., 2014}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see {153100}." +611945,"For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600})." +611955,"For a general discussion of hereditary prostate cancer, see {176807}." +611958,"For a general discussion of hereditary prostate cancer, see {176807}." +611959,"For a general discussion of hereditary prostate cancer, see {176807}." +611960,"Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis ({2:Laitinen et al., 2001}; {1:Illig and Wjst, 2002}; {4:Pillai et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}." +612001,"Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. Individuals with the deletion may have mild to moderate mental retardation or learning difficulties, or may have no cognitive deficits. Some individuals have epilepsy. Various dysmorphic features have been described, but there is no consistent or recognizable phenotype (review by {19:van Bon et al., 2009}). Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, hypotonia, and poor growth ({3:Endris et al., 2010})." +612005,"Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by {1:Farrell and Kelly, 2002}).\n\nFor additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}." +612006,"Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by {3:Farrell and Kelly, 2002}).\n\nFor additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}." +612007,"Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by {2:Farrell and Kelly, 2002}).\n\nFor additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}." +612008,"Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by {1:Farrell and Kelly, 2002}).\n\nFor additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}." +612009,"Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by {1:Farrell and Kelly, 2002}).\n\nFor additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}." +612010,"Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by {1:Farrell and Kelly, 2002}).\n\nFor additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}." +612011,"Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by {1:Farrell and Kelly, 2002}).\n\nFor additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}." +612015,"Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin ({4:Leroy, 2006}).\n\nFor a discussion of the classification of CDGs, see CDG1A ({212065})." +612016,"Primary coenzyme Q10 deficiency-4 (COQ10D4) is an autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Some affected individuals develop seizures and have mild mental impairment, indicating variable severity. Oral coenzyme Q10 supplementation does not result in significant improvement of neurologic symptoms (summary by {4:Mollet et al., 2008} and {2:Lagier-Tourenne et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 ({607426})." +612017,"For a phenotypic description and a discussion of genetic heterogeneity of infantile hypertrophic pyloric stenosis (IHPS), see {179010}." +612020,"The form of motor neuron disease designated spastic paraplegia-39 (SPG39) by {1:Rainier et al. (2008)} is an autosomal recessive progressive spastic paraplegia associated with distal upper and lower extremity wasting.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}." +612030,"For a discussion of genetic heterogeneity of coronary heart disease (CHD), see {607339}." +612042,"Recombination plays a crucial role in meiosis, ensuring the proper segregation of chromosomes. Linkage disequilibrium (LD) and sperm typing studies suggested that recombination rates vary tremendously across the human genome, with most events occurring in narrow hotspots ({1:Coop et al., 2008}).\n\nTo examine variation in fine-scale recombination patterns among individuals, {1:Coop et al. (2008)} used dense genomewide nucleotide polymorphism data collected in nuclear families to localize crossovers with high spatial resolution. This analysis revealed that overall recombination hotspot usage is similar in males and females, with individual hotspots often active in both sexes. Across the genome, roughly 60% of crossovers occurred in hotspots inferred from LD studies (on chromosomes 17, 19, 10, and 11). Notably, however, {1:Coop et al. (2008)} found extensive and heritable variation among both males and females in the proportion of crossovers occurring in these hotspots." +612073,"Mitochondrial DNA depletion syndrome-5 is an autosomal recessive disorder characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction. Laboratory studies often show mild methylmalonic aciduria ({1:Carrozzo et al., 2007}).\n\nFor a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 ({603041})." +612075,"Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur ({1:Bourdon et al., 2007}).\n\nMitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype ({4:Shaibani et al., 2009}).\n\nFor a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 ({603041})." +612076,"Renal hypouricemia is a common inherited disorder characterized by impaired renal urate reabsorption and subsequent low serum urate levels. It may be associated with severe complications such as exercise-induced acute renal failure (EIARF) and nephrolithiasis (summary by {7:Matsuo et al., 2008}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of renal hypouricemia, see RHUC1 ({220150})." +612079,"Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) is an autosomal recessive disorder characterized by alopecia with skin involvement including multiple facial nevi and flexural hyperpigmentation; moderately to severely impaired intellectual development; progressive motor decline; and endocrine deficiency (summary by {2:Spiegel et al., 2010})." +612089,"For a general phenotypic description and a discussion of genetic heterogeneity of hypophosphatemic rickets, see ({193100})." +612096,"For a phenotypic description and a discussion of genetic heterogeneity of otosclerosis, see OTSC1 ({166800})." +612099,"Multiple familial trichoepithelioma (MFT) is an autosomal dominant disorder of skin appendage tumors characterized by the appearance of trichoepitheliomas.\n\nSee also MFT1 ({601606}), which is caused by mutations in the CYLD gene ({605018}) on chromosome 16q12-q13." +612100,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({4:Bailey et al., 1996}; {9:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({6:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({10:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +612109,"Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage (summary by {2:Gillespie et al., 2015})." +612119,"Trehalose is a disaccharide found in mushrooms, algae, and insect hemolymph; mushrooms and products containing baker's yeast are thus the only sources of trehalose in the human diet. The high concentration of trehalose in cryptobiotic plants is responsible for their remarkable ability to go through cycles of desiccation and rehydration without injury. This led to interest by the food industry in the addition of trehalose to foodstuffs to improve the longevity and quality of dried food. However, ingestion of a disaccharide in an individual who cannot digest it results in osmotic diarrhea, abdominal pain, and increased rectal flatulence (summary by {3:Murray et al., 2000}). Isolated trehalose intolerance due to deficiency of trehalase (TREH; {275360}) is probably rare in adult white Americans ({5:Welsh et al., 1978}), but has been estimated at 8% in Greenlanders ({1:Gudmand-Hoyer et al., 1988})." +612126,"GLUT1 deficiency syndrome-2 is an autosomal dominant disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy, with an average onset of about 2 to 3 years. Mild mental retardation may also occur. One family has been reported with the additional feature of hemolytic anemia ({17:Weber et al., 2008}). GLUT1 deficiency syndrome-2 shows wide clinical variability both within and between affected families. The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a spectrum of neurologic phenotypes resulting from GLUT1 deficiency. GLUT1 deficiency syndrome-1 ({606777}) represents the more severe end of the phenotypic spectrum. Correct diagnosis of GLUT1 deficiency is important because a ketogenic diet often results in marked clinical improvement in motor and seizure symptoms (reviews by {8:Pascual et al., 2004} and {1:Brockmann, 2009})." +612132,"EDAID2 is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by {1:Boisson et al., 2017}).\n\nMutations in the NFKBIA gene result in functional impairment of NFKB (see {164011}), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection ({8:McDonald et al., 2007}).\n\nFor discussion of genetic heterogeneity of ectodermal dysplasia and immune deficiency, see {300291}." +612138,"Epidermolysis bullosa simplex 5C with pyloric atresia (EBS5C) is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. In reports of 2 consensus meetings for EB, {4,3:Fine et al. (2000, 2008)} considered EBSPA to be a 'basal' form of simplex EB because the electron microscopy shows that skin cleavage occurs in the lower basal level of the keratinocyte, just above the hemidesmosome. There is often decreased integration of keratin filaments with hemidesmosomes.\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760}).\n\nSee also junctional EB with pyloric atresia (JEB-PA; {226730}), a similar disorder caused by mutation in the ITGB4 ({147557}) or the ITGA6 ({147556}) gene." +612161,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 (105800)." +612162,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 ({105800})." +612164,"Developmental and epileptic encephalopathy-4 (DEE4) is a neurologic disorder characterized by the onset of tonic seizures in early infancy (usually in first months of life). In most cases, seizures increase in frequency and become refractory. Affected individuals have profoundly impaired psychomotor development with poor head control, limited or no ability to walk, spastic quadriplegia, and poor or absent speech. Brain imaging may show cortical atrophy and hypomyelination. EEG studies in the more severe cases show a burst-suppression pattern, consistent with a clinical diagnosis of Ohtahara syndrome, and/or hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Less severely affected individuals have later onset of seizures (summary by {5:Saitsu et al., 2008}; {3:Hamdan et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}." +612165,"For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +612199,"Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia (summary by {1:Anderson et al., 2012} and {8:Polvi et al., 2012}).\n\nLeukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome ({614561}), has similar central nervous system features as CRMCC in the absence of extraneurologic or systemic manifestations. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic ({1:Anderson et al., 2012}; {8:Polvi et al., 2012}).\n\nSome features of CRMCC resemble those observed in dyskeratosis congenita (see, e.g., {127550}), which is a clinically and genetically heterogeneous telomere-related genetic disorder.\n\n<Subhead> Genetic Heterogeneity of Cerebroretinal Microangiopathy With Calcifications And Cysts\n\nSee also CRMCC2 ({617341}), caused by mutation in the STN1 gene ({613128}) on chromosome 10q24." +612201,"Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({2:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}." +612219,"The Ewing sarcoma family of tumors (primitive neuroectodermal tumors; PNET) comprise morphologically heterogeneous tumors that are characterized by nonrandom chromosomal translocations involving the EWS gene on chromosome 22q12 and one of several members of the ETS family of transcription factors. The tumors include Ewing sarcoma, peripheral neuroepithelioma, and Askin tumor. In approximately 90% of cases of ESFT, the FLI1 gene ({193067}) on chromosome 11 is the fusion partner of EWS; in approximately 10%, the EWS fusion partner is the ERG gene ({165080}) on chromosome 22. Many other ETS family members have been identified as fusion partners of EWS, but these cases are rare ({12:Khoury, 2005})." +612221,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +612223,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +612224,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +612226,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +612227,"In addition to classic type 1 (see {222100}) and type 2 (see {125853}) diabetes mellitus, atypical presentations are seen, particularly in populations of African ancestry. Ketosis-prone diabetes, the most common atypical form, is characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding, and association with type 1 susceptibility HLA alleles is variable ({10:Sobngwi et al., 2002})." +612228,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +612230,"For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see {114500}." +612231,"For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see {114500}." +612232,"For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see {114500}." +612237,"Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most commonly found in middle-aged and elderly individuals, are more common among men, and are often detected as deep-seated lesions in the extremities. Despite their relatively low-grade malignancy, recurrence and metastasis may appear many years after the initial diagnosis. Histologic tissue section examination reveals a mixture of cellular and myxoid stromal components ({8:Panagopoulos et al., 2002})." +612238,"Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method ({2:Weinstein, 1994}).\n\nFor a discussion of genetic heterogeneity of isolated scoliosis, see IS1 ({181800})." +612239,"Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method ({2:Weinstein, 1994}).\n\nFor a discussion of genetic heterogeneity of isolated scoliosis, see IS1 ({181800})." +612240,"Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}." +612241,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +612242,"The 10q22.3-q23.2 region is characterized by a complex set of low-copy repeats (LCRs), which can give rise to various genomic changes mediated by nonallelic homologous recombination (NAHR). Recurrent deletions of chromosome 10q22.3-q23.2, including the BMPR1A gene ({601299}) have been associated with dysmorphic facies, developmental delay, and multiple congenital anomalies. Some patients with deletions that extend distally to include the PTEN gene ({601728}) have a more severe phenotype with infantile/juvenile polyposis, macrocephaly, dysmorphic facial features, and developmental delay (summary by {10:van Bon et al., 2011})." +612247,"Crouzon syndrome with acanthosis nigricans is considered to be a distinct disorder from classic Crouzon syndrome ({123500}), which is caused by mutation in the FGFR2 gene ({176943}). {3:Cohen (1999)} argued that this condition is separate from Crouzon syndrome for 2 main reasons: it is caused by a highly specific mutation of the FGFR3 gene, whereas multiple different FGFR2 mutations result in Crouzon syndrome, and the phenotypes are different." +612254,"For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see {152700}." +612255,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +612259,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +612260,"Immunodeficiency-68 (IMD68) is an autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas, although other organisms may be observed. IMD68 is life-threatening in infancy and early childhood. The first invasive infection typically occurs before 2 years of age, with meningitis and upper respiratory infections being common manifestations. The mortality rate in early childhood is high, with most deaths occurring before 8 years of age. Affected individuals have an impaired inflammatory response to infection, including lack of fever and neutropenia, although erythrocyte sedimentation rate (ESR) and C-reactive protein may be elevated. General immunologic workup tends to be normal, with normal levels of B cells, T cells, and NK cells. However, more detailed studies indicate impaired cytokine response to lipopolysaccharide (LPS) and IL1B ({147720}) stimulation; response to TNFA ({191160}) is usually normal. Patients have good antibody responses to most vaccinations. Viral, fungal, and parasitic infections are generally not observed. Early detection is critical in early childhood because prophylactic treatment with IVIg or certain antibiotics is effective; the disorder tends to improve naturally around adolescence. At the molecular level, IMD68 results from impaired function of selective Toll receptor (see TLR4, {603030})/IL1R (see IL1R1; {147810}) signaling pathways that ultimately activate NFKB ({164011}) to produce cytokines (summary by {2:Picard et al., 2010}).\n\nSee also IMD67 ({607676}), caused by mutation in the IRAK4 gene ({602170}), which shows a similar phenotype to IMD68. As the MYD88 and IRAK4 genes interact in the same intracellular signaling pathway, the clinical and cellular features are almost indistinguishable (summary by {2:Picard et al., 2010})." +612262,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +612263,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {3:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 ({155600})." +612274,"For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 ({244400})." +612279,"For a general phenotypic description and a discussion of genetic heterogeneity of generalized epilepsy with febrile seizures plus (GEFS+), see {604233}." +612281,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({8:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {3:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300})." +612285,"Joubert syndrome-9 (JBTS9) is an autosomal recessive disorder characterized by hypotonia, ataxia, developmental delay, abnormal eye movements, and abnormal respiratory control. Variable features include retinal dystrophy, kidney disease, and seizures. Brain imaging shows cerebellar vermis hypoplasia and the 'molar tooth sign.' Brain imaging may also show ventriculomegaly ({1:Bachmann-Gagescu et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBST1 ({213300})." +612288,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +612289,"Fontaine progeroid syndrome (FPS) is characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, sparse hair, triangular face, widely open anterior fontanel, convex and broad nasal ridge, micrognathia, craniosynostosis in some patients, and early death in many (summary by {17:Writzl et al., 2017})." +612293,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({2:Schamroth et al., 1997}). However, as noted by {3:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}." +612300,"CD59-mediated hemolytic anemia with immune-mediated polyneuropathy is an autosomal recessive disorder characterized by infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. Immunosuppressive treatment may result in some clinical improvement (summary by {5:Nevo et al., 2013})." +612304,"Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia ({10:Millar et al., 2000})." +612311,"For a phenotypic description and a discussion of genetic heterogeneity of attention deficit-hyperactivity disorder, see {143465}." +612312,"For a phenotypic description and a discussion of genetic heterogeneity of attention deficit-hyperactivity disorder, see {143465}." +612313,"Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor (summary by {8:Glass et al., 1989}; {16:Urquhart et al., 2009}; {13:Rainger et al., 2014})." +612319,"Autosomal recessive spastic paraplegia-35 is a complicated form of SPG characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur (summary by {2:Dick et al., 2010}). In addition, some patients with mutations in the FA2H gene have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA), thus expanding the phenotype. {6:Kruer et al. (2010)} referred to this phenotypic spectrum of disorders as fatty acid hydrolase-associated neurodegeneration (FAHN).\n\nIn a detailed report of 19 patients with biallelic FA2H mutations, {9:Rattay et al. (2019)} stated that the phenotype was diagnostically consistent with a complicated form of SPG. The authors concluded that FA2H mutations cause a narrow phenotype despite prior attempts to classify it into separately defined disease entities.\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +612335,"For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600})." +612336,"Heterozygous protein S deficiency, like protein C deficiency ({176860}), is characterized by recurrent venous thrombosis. {2:Bertina (1990)} classified protein S deficiency into 3 clinical subtypes based on laboratory findings. Type I refers to deficiency of both free and total protein S as well as decreased protein S activity; type II shows normal plasma values, but decreased protein S activity; and type III shows decreased free protein S levels and activity, but normal total protein S levels. Approximately 40% of protein S circulates as a free active form, whereas the remaining 60% circulates as an inactive form bound to C4BPA ({120830}).\n\n{24:Zoller et al. (1995)} observed coexistence of type I and type III PROS1-deficient phenotypes within a single family and determined that the subtypes are allelic. Under normal conditions, the concentration of protein S exceeds that of C4BPA by approximately 30 to 40%. Thus, free protein S is the molar surplus of protein S over C4BPA. Mild protein S deficiency will thus present with selective deficiency of free protein S, whereas more pronounced protein S deficiency will also decrease the complexed protein S and consequently the total protein S level. These findings explained why assays for free protein S have a higher predictive value for protein S deficiency.\n\nSee also autosomal recessive thrombophilia due to protein S deficiency (THPH6; {614514}), which is a more severe disorder." +612337,"MRD22 is characterized by impaired intellectual development with frequent cooccurrence of corpus callosum anomalies, hypotonia, microcephaly, growth problems, and variable facial dysmorphism (summary by {10:van der Schoot et al., 2018}).\n\nChromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by {1:Ballif et al., 2012})." +612347,"The Jervell and Lange-Nielsen syndrome is an autosomal recessive syndrome of abnormal cardiac ventricular repolarization with prolonged QT interval and bilateral congenital deafness.\n\nFor a general description and a discussion of genetic heterogeneity of Jervell and Lange-Nielsen syndrome, see {220400}." +612350,"Ehlers-Danlos syndrome spondylodysplastic type 3 is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features ({2:Giunta et al., 2008}).\n\nFor a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}." +612353,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({1:Schamroth et al., 1997}). However, as noted by {2:Sybert (2010)}, reports of several families with expression of more than one variant of porokeratosis among members, and of individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012})." +612354,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +612356,"Heparin cofactor II (HCF2; {142360}) rapidly inhibits thrombin in plasma in the presence of dermatan sulfate or heparin. Congenital HCF2 deficiency is associated with thromboembolism and is classified into type I (quantitative) or type II (qualitative) deficiency ({5:Kondo et al., 1996})." +612357,"For a phenotypic description and a discussion of genetic heterogeneity of bipolar disorder, see {125480}." +612361,"For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see {181500}." +612363,See ALTQTL2 ({612364}) on chromosome 22q12 for another locus associated with the plasma level of alanine aminotransferase. +612364,"For a discussion of genetic heterogeneity of quantitative trait loci for plasma level of alanine aminotransferase, see ALTQTL1 ({612363})." +612365,See GGTQTL2 ({612366}) on chromosome 12q24 for another locus associated with the plasma level of gamma glutamyltransferase. +612366,"For a discussion of genetic heterogeneity of quantitative trait loci for the plasma level of gamma glutamyltransferase, see GGTQTL1 ({612365})." +612367,"For a discussion of genetic heterogeneity of quantitative trait loci for the plasma level of alkaline phosphatase, see ALPQTL1 ({171720})." +612368,"For a discussion of genetic heterogeneity of quantitative trait loci for the plasma level of alkaline phosphatase, see ALPQTL1 ({171720})." +612369,"For a discussion of genetic heterogeneity of quantitative trait loci for the plasma level of alkaline phosphatase, see ALPQTL1 ({171720})." +612370,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {5:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}." +612372,"For a phenotypic description and a discussion of genetic heterogeneity of bipolar disorder, see {125480}." +612376,"Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and reciprocal and balanced translocations that always involve rearrangement of the RARA gene ({180240}). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene ({102578}) and represents more than 98% of APL ({11:Vitoux et al., 2007})." +612378,"For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see {152700}." +612380,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +612381,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +612388,"For a general description and a discussion of genetic heterogeneity of sarcoidosis, see {181000}." +612389,"Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596})." +612390,"Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596})." +612396,"Allantoicase ({EC 3.5.3.4}) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase ({191540}), was lost during vertebrate evolution." +612401,"For a phenotypic description and a discussion of genetic heterogeneity of osteoarthritis, see OS1 ({165720})." +612410,"For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 ({177900})." +612416,"Factor XI deficiency is an autosomal bleeding disorder characterized by reduced levels of factor XI in plasma (less than 15 IU/dL). Bleeding occurs mainly after trauma or surgery. On the basis of the concordance or discordance of F11 antigen and activity, the disorder is classified into the more frequent cross-reactive negative (CRM-) and the rarer CRM positive (CRM+) (summary by {9:Duga and Salomon, 2009})." +612417,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}." +612421,"For a phenotypic description and a discussion of genetic heterogeneity of androgenetic alopecia, see AGA1 ({109200})." +612431,"DFNA27 is characterized by postlingual progressive moderate to profound sensorineural hearing loss ({3:Peters et al., 2008})." +612438,"Hypomyelinating leukodystrophy-6, also known as hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum, is a neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen. The disorder usually shows sporadic occurrence, but sibs may be affected if a parent is somatic mosaic for the mutation (summary by {8:Simons et al., 2013}).\n\nHypomyelinating leukodystrophies (HLD) comprise a genetically heterogeneous entity in which there is a substantial permanent deficit in myelin deposition within the brain, resulting in neurologic deficits ({10:van der Knaap et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}." +612444,"Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus ({1:Afzelius, 1976}; {2:El Zein et al., 2003}).\n\nFor a general description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 ({244400})." +612448,"Age-related hearing impairment (ARHI), or presbycusis, is the progressive bilaterally symmetric deterioration of hearing ability that occurs with aging. Studies of the cochlea in many animal species and of the histopathology of human temporal bones have shown that stria vascularis volumes and spiral ganglion cell, inner hair cell, and outer hair cell populations, as well as many other cochlear cell types and structures, undergo age-related degeneration. Environmental risk factors for ARHI include noise exposure, smoking, ototoxic medication, and cardiovascular disease. Heritability estimates vary between 0.25 and 0.75 depending on, among other factors, study design (family vs twins), age range of the study population, and the phenotype studied ({1:Huyghe et al., 2008})." +612462,"Pseudohypoparathyroidism type Ic (PHP1C) is characterized by resistance to parathyroid hormone (PTH; {168450}) as well as to other hormones. It is associated with a constellation of physical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation. Laboratory studies in patients with PHP Ic show a decreased cellular cyclic AMP (cAMP) response to infused PTH, but no defect in activity of the erythrocyte Gs protein ({4:Mantovani and Spada, 2006})." +612463,"Patients with pseudopseudohypoparathyroidism do not show resistance to parathyroid hormone (PTH; {168450}) or other hormones, as is the case with PHP1A ({103580}), but do manifest the constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation ({9:Kinard et al., 1979}; {8:Fitch, 1982}; {10:Mantovani and Spada, 2006}).\n\nPPHP occurs only after paternal inheritance of the molecular defect, whereas PHP1A occurs only after maternal inheritance of the molecular defect (see Inheritance and Pathogenesis below). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele ({5:Davies and Hughes, 1993}; {15:Wilson et al., 1994}).\n\nFor a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A ({103580})." +612469,"For a detailed discussion of the WAGR syndrome, see {194072}. In a subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is associated with haploinsufficiency for the BDNF gene." +612513,"Chromosome 2p16.1-p15 deletion syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. Many patients have behavioral disorders, including autistic features, as well as structural brain abnormalities, such as pachygyria or hypoplastic corpus callosum. Those with deletions including the BCL11A gene ({606557}) also have persistence of fetal hemoglobin (HbF), which is asymptomatic and does not affected hematologic parameters or susceptibility to infection (summary by {6:Funnell et al., 2015}).\n\nPoint mutation in the BCL11A gene causes intellectual developmental disorder with persistence of fetal hemoglobin ({617101}), which shows overlapping features.\n\nSee also fetal hemoglobin quantitative trait locus-5 (HBFQTL5; {142335})." +612514,{4:Vernes et al. (2008)} identified polymorphisms and a haplotype within the CNTNAP2 gene ({604569}) on chromosome 7q35-q36 implicated in the endophenotype of nonsense word repetition as a marker of specific language impairment. +612521,"For a phenotypic description and a discussion of genetic heterogeneity of type 1 diabetes mellitus, see {222100}." +612525,"For a phenotypic description and a discussion of genetic heterogeneity of infantile hypertrophic pyloric stenosis (IHPS), see {179010}." +612526,"Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes ({1:Garg, 2004}).\n\nFor a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 ({608594})." +612527,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650})." +612528,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {2:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650})." +612529,"Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({6:Witkop, 1988})." +612542,"The plasma level of vitamin B12 is a modifiable quantitative trait associated with many diseases ({1:Hazra et al., 2008}). Vitamin B12 found in meat and milk products is composed of corrin and cobalt rings and is necessary for the formation of red blood cells, DNA synthesis during cell division, and maintenance of the myelin nerve sheath, among other functions. Deficiency in vitamin B12, clinically associated with pernicious anemia, cardiovascular disease, cancer, and neurodegenerative disorders, is often related to poor intestinal B12 absorption rather than direct dietary deficiency." +612551,"Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) ({4:Meyrier, 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278})." +612554,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +612557,"For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}." +612558,"For a phenotypic description and discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}." +612559,"For a phenotypic description and discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see {151400}." +612561,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {7:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650})." +612562,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {3:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650})." +612563,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650})." +612566,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +612571,"For a general phenotypic description and a discussion of genetic heterogeneity of lung cancer, see {211980}." +612572,"Retinitis pigmentosa-46 (RP46) is characterized by night blindness, loss of peripheral vision, and reduced visual acuity. Funduscopic findings are typical of RP, including pale optic discs, attenuated retinal vessels, and intraretinal pigment deposits. Electroretinography shows substantial loss of rod and cone photoreceptor function ({1:Hartong et al., 2008}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +612578,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +612579,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +612586,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {3:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 ({105800})." +612587,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {2:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 ({105800})." +612589,"For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see {114500}." +612590,"For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see {114500}." +612592,"For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see {114500}." +612593,"For a general phenotypic description and a discussion of genetic heterogeneity of lung cancer, see {211980}." +612594,"For a discussion of genetic heterogeneity of multiple sclerosis (MS), see MS1 ({126200})." +612595,"Multiple sclerosis-3 (MS3) is a chronic inflammatory disease of the central nervous system (CNS) characterized by multifocal demyelination (summary by {5:Kallio et al., 2009}).\n\nFor a discussion of genetic heterogeneity of multiple sclerosis, see MS1 ({126200})." +612596,"For a discussion of genetic heterogeneity of multiple sclerosis (MS), see MS1 ({126200})." +612599,"For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 ({177900})." +612621,"Intellectual developmental disorder-5 (MRD5) is characterized by moderately to severely impaired intellectual development with delayed psychomotor development apparent in the first years of life. Most patients develop variable types of seizures, some have autism or autism spectrum disorder (see {209850}), and some have acquired microcephaly (summary by {1:Berryer et al., 2013})." +612622,"For a phenotypic description and a discussion of genetic heterogeneity of type 1 diabetes mellitus, see {222100}." +612627,"For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764})." +612629,"For a discussion of genetic heterogeneity of serum adiponectin levels, see ADIPQTL1 ({612556})." +612632,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({2:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900})." +612637,"For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 ({121210})." +612639,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +612702,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}." +612713,"Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by {2:Kahrizi et al., 2009}).\n\nSee also congenital disorder of glycosylation type Iq (CDG1Q; {612379}), an allelic disorder with overlapping features." +612715,"Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by {3:Zhang et al., 2013}).\n\nFor a discussion of genetic heterogeneity of dyschromatosis universalis hereditaria, see DUH1 ({127500})." +612716,"SPR deficiency results in neurologic deterioration due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Clinically, affected individuals show an L-DOPA-responsive, diurnally fluctuating movement disorder usually associated with cognitive delay and severe neurologic dysfunction. BH4 is a required cofactor for the synthesis of the neurotransmitters dopamine and serotonin. BH4 is also a required cofactor for phenylalanine hydroxylase (PAH; {612349}), but patients with SPR deficiency do not exhibit overt hyperphenylalaninemia. The lack of hyperphenylalaninemia distinguishes SPR deficiency from other disorders of BH4 synthesis (see, e.g., HPABH4A, {261640}). However, the neurologic phenotype of SPR deficiency resembles the other BH4-deficient disorders (summary by {4:Bonafe et al., 2001} and {7:Friedman et al., 2012}).\n\nAnother form of dopa-responsive dystonia (DTY5; {128230}) is caused by mutation in the gene encoding GTP cyclohydrolase I (GCH1; {600225}), which is also a component of the biopterin synthetic pathway." +612717,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +612718,"Cerebral creatine deficiency syndrome-3 is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain ({9:Schulze, 2003}). Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. Oral creatine supplementation can offer symptom improvement (summary by {5:Edvardson et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of cerebral creatine deficiency syndrome, see CCDS1 ({300352})." +612736,"Guanidinoacetate methyltransferase deficiency, an autosomal recessive inborn error of creatine synthesis, is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids (summary by {8:Schulze, 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CCDS, see CCDS1 ({300352})." +612737,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +612740,"ALAD porphyria is a rare autosomal recessive disorder that has been reported and confirmed by genetic analysis in only 5 patients ({18:Jaffe and Stith, 2007})." +612759,"Synesthesia is broadly defined as the experience of involuntary sensory crossactivation in which the presentation of a particular stimulus elicits a secondary sensory-perceptual experience ({2:Barnett et al., 2008}). Although this phenomenon can be acquired or transient due to trauma or drugs, there is a congenital or developmental form that shows familial patterns. Synesthesia can occur between any 2 sensory modalities, but the most common and best-studied forms of synesthesia involve the association of color with linguistic stimuli such as letters, numbers, or words, or with music ('colored hearing,' 'colored music'; {3:Baron-Cohen et al., 1996}). Other less common forms include the induction of tastes by words, the induction of touch by vision, the induction of shapes by tastes, and the personification of numbers ({2:Barnett et al., 2008})." +612776,"Hypoglossia with situs inversus is a very rare congenital condition that likely represents a developmental field defect. Only sporadic cases have been reported ({3:Faqeih et al., 2008}).\n\nHypoglossia is part of a group of malformation syndromes collectively termed 'oromandibular limb hypogenesis syndromes,' that usually include limb defects. {4:Hall (1971)} provided a classification system (see {103300}). See also agnathia with holoprosencephaly ({202650}), which shows hypoglossia and situs inversus in addition to severe neurodevelopmental defects." +612781,"IGHD type IB is an autosomal recessive disorder characterized by low but detectable levels of GH, short stature (more than 2 SD below the mean for age and sex), delayed bone age, and a good response to rhGH treatment without antibody formation (summary by {2:Alatzoglou et al., 2014}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of IGHD, see {262400}." +612782,"Immunodeficiency-9 is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by {5:McCarl et al., 2009})." +612783,"Immunodeficiency-10 is an autosomal recessive primary immunodeficiency characterized by onset of recurrent infections in childhood due to defective T- and NK-cell function, although the severity is variable. Affected individuals may also have hypotonia, hypohidrosis, or dental enamel hypoplasia consistent with amelogenesis imperfecta (summary by {5:Parry et al., 2016})." +612796,"For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +612798,"Question mark ear is an auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. It is more prevalent among boys than girls (2:1), usually sporadic, and can be unilateral or bilateral ({7:Shkalim et al., 2008})." +612838,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144})." +612840,"Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder characterized by LAD1 ({116920})-like immune deficiency and Glanzmann thrombasthenia (GT; {273800})-like bleeding problems. LAD3 results from mutations in FERMT3, or KINDLIN3, which encodes an intracellular protein that interacts with beta-integrins in hematopoietic cells. In LAD3, the adhesive functions of integrins on both leukocytes and platelets are disrupted, most likely due to defects in activation-dependent alterations of surface integrins that enable high-avidity binding to ligands on target cells, a process termed 'inside-out signaling' ({12:Svensson et al., 2009}; {13:Zimmerman, 2009}).\n\nFor a discussion of genetic heterogeneity of leukocyte adhesion deficiency, see {116920}." +612841,"Hypotrichosis-5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), is a form of hereditary hypotrichosis characterized by twisting hair. Affected individuals have little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal (summary by {3:Zhang et al., 2012}).\n\nFor a general phenotypic description of Marie Unna hereditary hypotrichosis, see MUHH1 ({146550}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}." +612843,"Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis characterized by follicular hyperkeratosis, progressive cicatricial alopecia, and photophobia. Most reported cases show X-linked inheritance (KFSDX; {308800}) ({2:Castori et al., 2009})." +612847,"This form of brachyolmia, here designated brachyolmia type 4, is characterized by short-trunk stature with normal intelligence and facies. The radiographic features include rectangular vertebral bodies with irregular endplates and narrow intervertebral discs, precocious calcification of rib cartilages, short femoral neck, mildly shortened metacarpals, and mild epiphyseal and metaphyseal changes of the tubular bones (summary by {3:Miyake et al., 2012})." +612851,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}." +612853,"Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation ({1:Bonati et al., 2003}).\n\nFor additional information and a discussion of genetic heterogeneity of restless legs syndrome, see RLS1 ({102300})." +612858,"For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see {119530}." +612876,"For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +612877,"Dilated cardiomyopathy-1BB (CMD1BB) is a life-threatening, intractable disease characterized by ventricular dilation and thinning ({2:Shiba et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A ({115200})." +612882,"For a discussion of the genetic heterogeneity in age at menarche, see MENAQ1 ({610873})." +612883,"For a discussion of the genetic heterogeneity in age at menarche, see MENAQ1 ({610873})." +612884,"For a discussion of the genetic heterogeneity in age at natural menopause, see MENOQ1 ({300488})." +612885,"Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 ({311360}).\n\nFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 ({300488})." +612886,"For a discussion of the genetic heterogeneity in age at natural menopause, see MENOQ1 ({300488})." +612892,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +612893,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +612894,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +612900,"Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development ({5:Hughes and Newton, 1992}). Cerebral palsy can be classified according to the type of movement disorder: spastic cerebral palsy accounts for approximately 60% of cases and can be subdivided into hemiplegic, diplegic, quadriplegic, and monoplegic types, whereas other forms include athetoid/dyskinetic, ataxic ({605388}), and mixed ({4:Gustavson et al., 1969}).\n\n<Subhead> Genetic Heterogeneity of Spastic Quadriplegic Cerebral Palsy\n\nSee also CPSQ3 ({617008}), caused by mutation in the ADD3 gene ({601568}) on 10q24.\n\nRelated phenotypes that were formerly classified in the CPSQ series include spastic paraplegia-47 (SPG47; 614066), spastic paraplegia-50 (SPG50; 612936), spastic paraplegia-51 (SPG51; 613744), spastic paraplegia-52 (SPG52; 614067), and neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA; {619026})." +612908,"PPKS2 is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor. Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be present. ({1:Armstrong et al., 1999}; {3:Whittock et al., 1999}).\n\nFor a discussion of genetic heterogeneity of the striate form of palmoplantar keratoderma, see PPKS1 ({148700})." +612921,"3M syndrome-2 (3M2) is characterized by low birth weight and short stature, relative macrocephaly, lumbar hyperlordosis, and prominent heels. Dysmorphic facial features include triangular face with frontal bossing and midface hypoplasia, anteverted nares with fleshy nasal tip, and full fleshy lips ({3:Hanson et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 ({273750})." +612929,"For a general discussion of susceptibility to Mycobacterium tuberculosis (TB), see {607948}." +612936,"Spastic paraplegia-50 (SPG50) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severely impaired intellectual development with poor or absent speech development (summary by {3:Verkerk et al., 2009})." +612937,"Limb-girdle muscular dystrophy-dystroglycanopathy type C15 (MDDGC15) is an autosomal recessive disorder characterized by progressive proximal muscle weakness, manifest initially as unsteady gait, but later including more distal muscles, and dilated cardiomyopathy. The age at onset varies widely from the first decade to adulthood; those with earlier onset may have delayed motor development. Laboratory studies show increased serum creatine kinase and muscle biopsy shows dystrophic features with decreased alpha-dystroglycan (DAG1; {128239}). Biochemical studies often show evidence of abnormal N-glycosylation of serum proteins, consistent with a congenital disorder of glycosylation (CDG) (summary by {2:Svahn et al., 2019}).\n\nFor a discussion of genetic heterogeneity of muscular dystrophy- dystroglycanopathy type C, see MDDGC1 ({609308}).\n\nFor a discussion of the classification of CDGs, see CDG1A ({212065})." +612938,"Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness (summary by {2:Daoud et al., 2016})." +612940,"The phenotype of autosomal recessive cutis laxa type II (ARCL2) includes cutis laxa of variable severity, abnormal growth, developmental delay, and associated skeletal abnormalities (summary by {4:Morava et al., 2009}). No specific clinical features distinguish ARCL2A ({219200}), which includes a glycosylation defect, and ARCL2B, in which abnormal glycosylation has not been reported ({4:Morava et al., 2009}; {2:Guernsey et al., 2009}).\n\nFor a phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100})." +612949,"Developmental and epileptic encephalopathy-39 (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder is not classified as a primary leukodystrophy. The myelination defect most likely stems from primary neuronal dysfunction due to impaired mitochondrial transport activity (summary by {4:Wibom et al., 2009} and {1:Falk et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +612950,"For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 ({177900})." +612954,"Myofibrillar myopathy-6 is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of rapidly progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, and filamentous inclusions, and sural nerve biopsy shows a neuropathy, often with giant axonal neurons. Most patients are severely affected by the second decade and need cardiac transplant, ventilation, and/or a wheelchair (summary by {2:Jaffer et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 ({601419})." +612955,"Congenital long QT syndrome (LQTS) is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({1:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500})." +612968,"Mutations in the FOXE3 gene have been found to cause multiple types of cataract, which have been described as membranous and posterior subcapsular." +612976,"Age-related hearing impairment (ARHI), or presbycusis, is the progressive, bilaterally symmetric deterioration of hearing ability that occurs with aging. Studies of the cochlea in many animal species and of the histopathology of human temporal bones have shown that stria vascularis volumes and spiral ganglion cell, inner hair cell, and outer hair cell populations, as well as many other cochlear cell types and structures, undergo age-related degeneration. Environmental risk factors for ARHI include noise exposure, smoking, ototoxic medication, and cardiovascular disease. Heritability estimates vary between 0.25 and 0.75 depending on, among other factors, study design (family vs twins), age range of the study population, and the phenotype studied ({2:Huyghe et al., 2008})." +613000,"Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is an autosomal dominant skin disorder characterized by large, hard, compact, painful masses of keratin that develop at sites of recurrent friction, principally on the feet, though also on the palms and other sites, without evidence of epidermolysis (summary by {1:Kelsell et al., 1995})." +613001,"Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies ({13:Moog et al., 2007}).\n\nThe malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, nonscarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by {2:Bennett et al., 2016})." +613002,"Immunodeficiency-83 (IMD83) is characterized by increased susceptibility to severe viral infections, including herpes simplex virus (HSV), varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and possibly respiratory syncytial virus (RSV). The age at onset varies widely from infancy to adults, and there is incomplete penetrance. The susceptibility to encephalitis or pneumonitis appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the central nervous system (CNS) or lung epithelial cells (review by {8:Zhang et al., 2013}; summary by {5:Mork et al., 2015}; {7:Sironi et al., 2017}, {3:Lim et al., 2019}, {6:Partanen et al., 2020}).\n\nFor a general phenotypic description of herpes simplex encephalitis and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see {610551}." +613007,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {2:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720})." +613008,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {2:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720})." +613011,"Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by {3:Stepensky et al., 2011}; {2:Linka et al., 2012}).\n\nFor a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 ({308240})." +613015,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700})." +613016,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700})." +613017,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700})." +613024,"Follicular non-Hodgkin lymphoma is an indolent B-cell malignancy with an annual incidence exceeding 10,000 cases in the United States ({2:Bohen et al., 2003}). One form of susceptibility to follicular lymphoma (FL1) is associated with a region on chromosome 6p21.33." +613025,"For a general phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see {181500}." +613026,"Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. Additional features include dysmorphic facies, signs of ectodermal dysplasia, hand and foot anomalies, and genitourinary anomalies, particularly in males (summary by {2:Chowdhury et al., 2014})." +613027,"Glycogen storage disease IXc (GSD9C) is characterized by onset in childhood of hepatomegaly, hypotonia, growth retardation in childhood, and liver dysfunction. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis ({4:Burwinkel et al., 1998}).\n\nFor a general description and a discussion of genetic heterogeneity of GSD IX, see GSD9A ({306000})." +613030,"For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 ({137800})." +613031,"For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 ({137800})." +613032,"For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 ({137800})." +613033,"For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 ({137800})." +613035,"Regular exposure to continuous noise or an exposure to a single acoustic overstimulation can lead to noise-induced hearing loss (NIHL). Millions of people worldwide are exposed daily to harmful levels of noise, making NIHL a likely widespread occupational health hazard. NIHL is a complex disease resulting from an interaction between genetic and environmental factors and is highly variable between individuals ({1:Konings et al., 2009})." +613038,"Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; {139250}) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL; {176760}), and thyroid-stimulating hormone (TSH; see {188540}), while the production of adrenocorticotrophic hormone (ACTH; see {176830}), luteinizing hormone (LH; {152780}), and follicle-stimulating hormone (FSH; {136530}) are preserved ({24:Wu et al., 1998}). Some patients exhibit only GH deficiency, although approximately 50% of isolated GH deficiency progresses to CPHD ({4:Gergics et al., 2021}). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen ({1:Aarskog et al., 1997}). Some cases present with severe mental retardation along with short stature ({16:Radovick et al., 1992}).\n\n<Subhead> Reviews\n\n{22:Voss and Rosenfeld (1992)} reviewed the development and differentiation of the 5 pituitary cell types: galactotropes, gonadotropes, corticotropes, thyrotropes, and somatotropes. As indicated by the mutations in PIT1 described later, combined pituitary hormone deficiency can have either autosomal dominant or autosomal recessive inheritance, depending on the part of the PIT1 molecule affected by the mutation. Some mutations have a dominant-negative effect.\n\n<Subhead> Genetic Heterogeneity of Combined Pituitary Hormone Deficiency\n\nCPHD2 ({262600}), associated with hypogonadism, is caused by mutation in the PROP1 gene ({601538}). CPHD3 ({221750}), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene ({600577}). CPHD4 ({262700}) is caused by mutation in the LHX4 gene ({602146}). CPHD5 (see septooptic dysplasia, {182230}) is caused by mutation in the HESX1 gene ({601802}). CPHD6 ({613986}) is caused by mutation in the OTX2 gene ({600037}). CPHD7 ({618160}) is caused by mutation in the RNPC3 gene ({618016})." +613055,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({2:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}." +613058,"For a general phenotypic description and a discussion of genetic heterogeneity of basal cell carcinoma, see BCC1 ({605462})." +613059,"For a general phenotypic description and a discussion of genetic heterogeneity of basal cell carcinoma, see BCC1 ({605462})." +613060,"Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) ({1:Commission on Classification and Terminology of the International League Against Epilepsy, 1989}). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with IGE, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by {4:Singh et al., 1999}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of EIG, see {600669}.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of EJM, see {254770}." +613061,"For a general phenotypic description and a discussion of genetic heterogeneity of basal cell carcinoma, see BCC1 ({605462})." +613062,"For a general phenotypic description and a discussion of genetic heterogeneity of basal cell carcinoma, see BCC1 ({605462})." +613063,"For a general phenotypic description and a discussion of genetic heterogeneity of basal cell carcinoma, see BCC1 ({605462})." +613064,"For a clinical description of atopic dermatitis and an overview of linkage studies, see {603165}." +613065,"Acute lymphoblastic leukemia (ALL), also known as acute lymphocytic leukemia, is a subtype of acute leukemia, a cancer of the white blood cells. Somatically acquired mutations in several genes have been identified in ALL lymphoblasts, cells in the early stages of differentiation. Germline variation in certain genes may also predispose to susceptibility to ALL ({23:Trevino et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Acute Lymphoblastic Leukemia\n\nA susceptibility locus for acute lymphoblastic leukemia (ALL1) has been mapped to chromosome 10q21. See also ALL2 ({613067}), which has been mapped to chromosome 7p12.2; and ALL3 ({615545}), which is caused by mutation in the PAX5 gene ({167414}) on chromosome 9p." +613067,"For a discussion of genetic heterogeneity of susceptibility to acute lymphoblastic leukemia, see ALL1 ({613065})." +613068,"NCFTD is an autosomal recessive disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function ({1:Steinfeld et al., 2009})." +613070,"Acute infantile liver failure resulting from TRMU mutation is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development ({3:Zeharia et al., 2009}).\n\nSee also transient infantile mitochondrial myopathy (MMIT; {500009}), which is a similar disorder.\n\nA more severe, permanent disorder with some overlapping features is associated with mitochondrial DNA depletion ({251880}).\n\nSee ILFS1 ({615438}) for information on syndromic infantile liver failure." +613074,"Autosomal dominant deafness-50 is a form of nonsyndromic hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by {1:Mencia et al., 2009})." +613078,"Nijmegen breakage syndrome-like disorder (NBSLD) is an autosomal recessive disorder characterized by severe prenatal growth retardation and persistent postnatal growth restriction, congenital microcephaly, borderline to mildly impaired intellectual development, normal sexual development, and radioresistant DNA synthesis with no immunodeficiency, myelodysplasia, or early neurodegeneration (summary by {2:Ragamin et al., 2020})." +613085,"For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A ({231300})." +613088,"For a general phenotypic description and a discussion of genetic heterogeneity of pelvic organ prolapse, see {176780}." +613090,"Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed ({4:Simon et al., 1997}).\n\nPatients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by {5:Simon et al., 1996} and {1:Fremont and Chan, 2012}).\n\nFor a discussion of genetic heterogeneity of Bartter syndrome, see {607364}." +613091,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {7:Huber and Cormier-Daire, 2012} and {21:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500})." +613092,"Autosomal dominant tubulointerstitial kidney disease-4 (ADTKD4) is a progressive renal disorder characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria. Although the anemia tends to improve with age, progressive renal insufficiency results in end-stage kidney disease between 40 and 70 years. Renal ultrasound may show small echogenic kidneys, and biopsy shows tubular atrophy and interstitial fibrosis, sometimes with cysts and secondary glomerulosclerosis (summary by {3:Zivna et al., 2009}).\n\nFor discussion of the revised nomenclature and genetic heterogeneity of ADTKD, see ADTKD1 ({162000})." +613093,"Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (COD) and complete and incomplete achromatopsia (ACHM). Impairment or death of cone photoreceptor cells is the clinical hallmark of these disorders. COD is a progressive cone disorder in which patients may initially have normal cone function but develop progressive visual acuity loss, increasing photophobia, color vision disturbances, and diminished cone responses on ERG, usually in the first or second decade of life. The visual acuity of these patients generally worsens to legal blindness before the fourth decade of life. ACHM is a stationary congenital autosomal recessive cone disorder characterized by low visual acuity, photophobia, nystagmus, and severe color vision defects. Patients with the complete ACHM subtype have no cone function on electroretinography, whereas those with incomplete ACHM show residual cone function (summary by {2:Thiadens et al., 2009})." +613096,"For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600})." +613099,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {3:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of malignant melanoma, see {155600}." +613101,"Familial hemophagocytic lymphohistiocytosis-5 with or without microvillus inclusion disease (FHL5) is an autosomal recessive hyperinflammatory disorder characterized clinically by fever, hepatosplenomegaly, pancytopenia, coagulation abnormalities, and other laboratory findings. Some patients have neurologic symptoms due to inflammatory CNS disease. There is uncontrolled and ineffective proliferation and activation of T lymphocytes, NK cells, and macrophages that infiltrate multiple organs, including liver, spleen, lymph nodes, and the CNS. The phenotype is variable: some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease (see MVID, {251850}). The enteropathy, which often necessitates parenteral feeding, may be the most life-threatening issue even after hematopoietic stem cell transplantation (HSCT). More variable features include sensorineural hearing loss and hypogammaglobulinemia. Treatment with immunosuppressive drugs and chemotherapy can ameliorate signs and symptoms of FHL in some patients, but the only curative therapy for FHL is HSCT. HSCT is not curative for enteropathy associated with the disorder, despite hematologic and immunologic reconstitution (summary by {7:Meeths et al., 2010}; {8:Pagel et al., 2012}; {10:Stepensky et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL, HLH), see {267700}." +613102,"Hypotrichosis and recurrent skin vesicles (HYPTSV) is characterized by sparse to absent scalp hair, eyebrows, eyelashes, and body hair, as well as recurrent vesicles of scalp and skin. Some patients also exhibit trauma-induced blistering, and anomalies of dental enamel and of nails may be observed ({2:Ayub et al., 2009}; {3:Onoufriadis et al., 2020})." +613105,"Central areolar choroidal dystrophy-2 (CACD2) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by {2:Boon et al., 2009}).\n\nFor a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 ({215500})." +613106,"For a general phenotypic description and a discussion of genetic heterogeneity of benign recurrent vertigo (BRV), see BRV1 ({193007})." +613112,"Autosomal dominant isolated macrothrombocytopenia-1 (MACTHC1) is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Affected individuals do not have increased bleeding episodes and platelet function is normal; macrothrombocytopenia is usually an incidental laboratory finding ({3:Kunishima et al., 2009}).\n\n<Subhead> Genetic Heterogeneity of Isolated Macrothrombocytopenia\n\nSee also MACTHC2 ({619840}), caused by mutation in the TUBA8 gene ({605742}) on chromosome 22q11." +613115,"Hereditary sensory and autonomic neuropathy type IIB (HSAN2B) is an autosomal recessive neurologic disorder characterized by early childhood onset of distal sensory impairment usually resulting in ulceration and associated with variable autonomic features, such as hyperhidrosis and urinary incontinence. Some patients may show impaired gait (summary by {1:Ilgaz Aydinlar et al., 2014}).\n\nHSAN2A ({201300}) is caused by mutation in the HSN2 isoform of the WNK1 gene (WNK1/HSN2; see {605232}). For a discussion of genetic heterogeneity of HSAN, see HSAN1 ({162400})." +613118,"Deficiency of antithrombin III is a major risk factor for venous thromboembolic disease. Two categories of AT-III deficiency have been defined on the basis of AT-III antigen levels in the plasma of affected individuals. The majority of AT-III deficiency families belong in the type I (classic) deficiency group and have a quantitatively abnormal phenotype in which antigen and heparin cofactor levels are both reduced to about 50% of normal. The second category of AT-III deficiency has been termed type II (functional) deficiency. Affected individuals from these kindreds produce dysfunctional AT-III molecules; they have reduced heparin cofactor activity levels (about 50% of normal) but levels of AT-III antigen are often normal or nearly normal (summary by {5:Bock and Prochownik, 1987}).\n\nThe 2 categories of antithrombmin III deficiency have been classified further. Type I (low functional and immunologic antithrombin) has been subdivided into subtype Ia (reduced levels of normal antithrombin), and type Ib (reduced levels of antithrombin and the presence of low levels of a variant). Type II (low functional but normal immunologic antithrombin) has been subdivided into subtype IIa (functional abnormalities affecting both the reactive site and the heparin-binding site of AT3); subtype IIb (functional abnormalities limited to the reactive site); and subtype IIc (functional abnormalities limited to the heparin-binding site) (summary by {15:Lane et al., 1992})." +613119,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144})." +613120,"<Subhead> Brugada Syndrome 7\n\nBrugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).\n\n<Subhead> Atrial Fibrillation 16\n\nAtrial fibrillation (AF) is the most common cardiac arrhythmia in the clinical setting, with a prevalence of 1% in the general population; prevalence increases with age and reaches more than 8% in the ninth decade of life. AF accounts for more than 15% of strokes, and is associated with worsening heart failure and increased mortality. More than 30% of cases of AF are considered to be 'lone AF,' unassociated with coronary artery disease, hypertension, valvular heart disease, hyperthyroidism, heart failure, or structural heart disease (summary by {4:Wang et al., 2010}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see ATFB1 ({608583})." +613123,"Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144})." +613135,"Infantile-onset parkinsonism-dystonia-1 (PKDYS1), also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increased ratio of dopamine to serotonin metabolites (review by {1:Kurian et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Infantile- or Childhood-Onset Parkinsonism-Dystonia\n\nSee also PKDYS2 ({618049}), caused by mutation in the SLC18A2 gene ({193001}) on chromosome 10q25, and PKDYS3 ({619738}), caused by mutation in the WARS2 gene ({604473}) on chromosome 1p12.\n\nFor an overlapping phenotype, see tyrosine hydroxylase deficiency ({605407}), also known as autosomal recessive Segawa syndrome." +613144,"For a general phenotypic description and a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 ({215500})." +613145,"For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see {152700}." +613150,"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' ({5:van Reeuwijk et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670})." +613151,"MDDGB3 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and mild brain abnormalities ({1:Clement et al., 2008}). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({2:Mercuri et al., 2009}).\n\nFor a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 ({613155})." +613152,"MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies.' In contrast to most dystroglycanopathies, impaired intellectual development is not a feature of MDDGB4 ({1:Godfrey et al., 2007}).\n\nFor a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 ({613155})." +613153,"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' ({1:Beltran-Valero de Bernabe et al., 2004}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670})." +613154,"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 ({128239}), collectively known as 'dystroglycanopathies' ({2:Godfrey et al., 2007}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670})." +613155,"Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable ({1:Balci et al., 2005}; {5:Godfrey et al., 2007}). Congenital muscular dystrophy-dystroglycanopathies with or without impaired intellectual development (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, {609308}).\n\n<Subhead> Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Impaired Intellectual Development (Type B)\n\nCongenital muscular dystrophy with impaired intellectual development due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 ({613156}), caused by mutation in the POMT2 gene ({607439}); MDDGB3 ({613151}), caused by mutation in the POMGNT1 gene ({606822}); MDDGB4 ({613152}), caused by mutation in the FKTN gene ({607440}); MDDGB5 ({616612}), caused by mutation in the FKRP gene ({606596}); MDDGB6 ({608840}), caused by mutation in the LARGE gene ({603590}); MDDGB14 ({615351}), caused by mutation in the GMPPB gene ({615320}); and MDDGB15 ({618992}), caused by mutation in the DPM3 gene ({605951})." +613156,"MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with impaired intellectual development and mild structural brain abnormalities ({5:Yanagisawa et al., 2007}). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}) ({1:Godfrey et al., 2007}).\n\nFor a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 ({613155})." +613157,"MDDGC3 is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition ({1:Clement et al., 2008}). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({2:Godfrey et al., 2007}).\n\nFor a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 ({609308})." +613158,"MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal ({1:Biancheri et al., 2007}). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({2:Godfrey et al., 2007}).\n\nFor a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 ({609308})." +613159,"Nephronophthisis-like nephropathy-1 (NPHPL1) is an autosomal recessive cystic kidney disease characterized by the onset of progressive renal insufficiency in childhood. End-stage renal disease occurs in the first 3 decades of life. The disorder may be associated with extrarenal manifestations, including hepatic and central nervous system involvement (summary by {2:O'Toole et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 ({256100})." +613161,"Beta-ureidopropionase deficiency is a rare autosomal recessive inborn error of metabolism due to a defect in pyrimidine degradation. Less than 10 patients have been reported, and the phenotype can range from severe neurologic involvement with mental retardation and seizures to normal neurologic development ({4:Yaplito-Lee et al., 2008})." +613163,"GABA-transaminase deficiency is characterized by neonatal or early infantile-onset encephalopathy, hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. Electroencephalograms show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Severity varies, but most patients have profound developmental impairment and some patients die in infancy (summary by {4:Koenig et al., 2017})." +613164,"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD ({168600})." +613177,"Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by {2:Davidson and Giro, 2002}).\n\nPatients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by {1:Callewaert et al., 2013}).\n\nFor general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100})." +613179,"Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by {1:Aust et al., 1992})." +613195,"Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by {4:Shah et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 ({277600})." +613207,"For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}." +613217,"Congenital tufting enteropathy (CTE) is a rare inherited intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. CTE presents in the first few months of life with chronic watery diarrhea and failure to thrive, and most affected individuals require parenteral nutrition for normal growth and development (summary by {11:Sivagnanam et al., 2008}).\n\nSemiquantitative assessment of the epithelial surface in CTE patients revealed that 80 to 90% contained tufts, compared to only 16% in patients with celiac disease and less than 10% in normal jejunum ({7:Reifen et al., 1994}).\n\nFor a discussion of genetic heterogeneity of diarrhea, see DIAR1 ({214700})." +613225,"Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit ({26:Kangsadalampai et al., 1999}).\n\n{21,22:Ichinose et al. (1996, 2000)} proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2." +613227,"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by {1:Gulsuner et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 ({224050})." +613229,"Trichotillomania (TTM) is a neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. The activity causes distress to the individual and often interferes with functioning. Affected individuals may develop physical complications and often have overlapping psychologic disorders, such as Tourette syndrome (GTS; {137580}) or obsessive-compulsive disorder (OCD; {164230}) (review by {4:Novak et al., 2009})." +613235,"Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit ({4:Kangsadalampai et al., 1999}).\n\n{2,3:Ichinose et al. (1996, 2000)} proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2." +613237,"Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) ({3:Meyrier, 2005}).\n\nDominant intermediate Charcot-Marie-Tooth disease E and focal segmental glomerulonephritis (CMTDIE; {614455}) is also caused by heterozygous mutation in the INF2 gene.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278})." +613238,"For a phenotypic description and a discussion of genetic heterogeneity of spondyloarthropathy, see SPDA1 ({106300})." +613241,"Pseudopili annulati is an unusual variant of normal hair characterized by a banded appearance of the hair under reflective light, as observed in pili annulati ({180600}), but resulting from a distinct underlying physical defect. There is no increased hair fragility ({2:Price et al., 1970})." +613254,"Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 ({191100}), caused by mutation in the TSC1 gene ({605284}) on chromosome 9q34.\n\nApproximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section)." +613265,"Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by {5:Read and Newton, 1997}). WS type 4B is caused by mutation in the EDN3 gene ({131242}). WS type 4 is genetically heterogeneous (see WS4A; {277580}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS2 ({193510}), and WS3 ({148820})." +613266,"Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by {5:Read and Newton, 1997}). WS type 4C is caused by mutation in the SOX10 gene ({602229}). WS type 4 is genetically heterogeneous (see WS4A; {277580}).\n\nFor a description of other clinical variants of Waardenburg syndrome, see WS1 ({193500}), WS2 ({193510}), and WS3 ({148820})." +613267,"Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision ({10:Sundin et al., 2006}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800})." +613268,"Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {1:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800})." +613269,"Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {2:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Fuchs corneal dystrophy, see FECD1 ({136800})." +613270,"Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {2:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800})." +613271,"For a phenotypic description and a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 ({136800})." +613280,"Hypermanganesemia with dystonia-1 (HMNDYT1) is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by {6:Tuschl et al., 2012} and {4:Quadri et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Hypermanganesemia With Dystonia\n\nSee also HMNDYT2 ({617013}), caused by mutation in the SLC39A14 gene ({608736}) on chromosome 8p21." +613282,"The accumulation of excess triglyceride in the liver, a condition known as hepatic steatosis (or fatty liver), is associated with adverse metabolic consequences including insulin resistance and dyslipidemia. Factors promoting deposition of fat in the liver include obesity, diabetes, insulin resistance, and alcohol ingestion. Nonalcoholic fatty liver disease (NAFLD) is the most common form of liver disease in Western countries. In a subset of individuals hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer (summary by {6:Romeo et al., 2008}).\n\n{3:Cohen et al. (2011)} reviewed nonalcoholic fatty liver disease.\n\n<Subhead> Genetic Heterogeneity of Nonalcoholic Fatty Liver Disease\n\nAnother form of nonalcoholic fatty liver disease (NAFLD2; {613387}) has been associated with variation in the APOC3 gene ({107720})." +613290,"Cisplatin is a highly effective chemotherapeutic agent, but its use is restricted by the high incidence of irreversible ototoxicity associated with it. This ototoxicity causes serious permanent bilateral hearing loss in 10 to 25% of adults receiving the drug, and in up to 60% of children. The consequences of this ototoxicity are particularly serious in children, because even mild hearing loss can compromise language and cognitive development. Cisplatin ototoxicity frequently leads to dose reduction and premature termination of cisplatin treatment, which may affect overall survival rates (summary by {1:Ross et al., 2009})." +613291,"Primary bile acid malabsorption (PBAM) is an intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, and steatorrhea. Bile acid malabsorption has been classified into 3 main types depending on the etiology. Types 1 and 3 are secondary disorders: type 1 is due to ileal dysfunction resulting from Crohn disease or ileal resection, and type 3 is secondary to other conditions, including cholecystectomy, post-vagotomy, celiac disease, and pancreatic insufficiency. Type 2 bile acid malabsorption is a primary congenital disorder, including the rare type due to mutations in the SLC10A2 gene (review by {7:Pattni and Walters, 2009}).\n\n<Subhead> Genetic Heterogeneity of Primary Bile Acid Malabsorption\n\nAlso see PBAM2 ({619481}), caused by mutation in the SLC51B gene ({612085})." +613308,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {3:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650})." +613309,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650})." +613310,"Familial exudative vitreoretinopathy is an inherited blinding disorder caused by defects in the development of retinal vasculature. There is extensive variation in disease severity among patients, even between members of the same family. Severely affected individuals often are registered as blind during infancy and can present with a phenotype resembling retinal dysplasia. Conversely, mildly affected individuals frequently have few or no visual problems and may have just a small area of avascularity in their peripheral retina, detectable only by fluorescein angiography (summary by {4:Poulter et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial exudative vitreoretinopathy (FEVR), see EVR1 ({133780})." +613313,"Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by {5:Roetto et al., 1999}). HFE2B is caused by mutation in the HAMP gene ({606464}). HFE2 is genetically heterogeneous (see HFE2A, {602390})." +613318,"For a general phenotypic description and a discussion of genetic heterogeneity of Miyoshi muscular dystrophy, see MMD1 ({254130})." +613325,"Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by {1:Foulkes et al., 2014}).\n\nSee also RTPS1 ({609322}), which is caused by mutation in the SMARCB1 gene ({601607}) on chromosome 22q11." +613327,"Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy ({608594}) with muscular dystrophy and cardiac conduction anomalies ({2:Hayashi et al., 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 ({608594})." +613328,"Roifman-Chitayat syndrome (ROCHIS) is an autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures, ataxia, and optic atrophy, dysmorphic facial features, distal skeletal anomalies, and combined immunodeficiency manifest as recurrent infections (summary by {2:Sharfe et al., 2018})." +613329,"Plasminogen inhibitor-1 deficiency is a rare autosomal recessive hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of PAI1, which inhibits tissue (PLAT; {173370}) and urinary (PLAU; {191840}) activators of plasminogen (PLG; {173350}) (review by {3:Mehta and Shapiro, 2008})." +613330,"Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet (summary by {2:Hellemans et al., 2009})." +613339,"Hot water epilepsy (HWE) is a form of reflex or sensory epilepsy in which seizures are precipitated by immersion in hot water or pouring of hot water over the head during bathing. The seizures are usually complex partial, but about 33% of patients experience secondary generalization. There are no additional neurologic abnormalities ({7:Satishchandra, 2003})." +613340,"For a general phenotypic description and a discussion of genetic heterogeneity of hot water epilepsy, see HWE1 ({613339})." +613341,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa ({2:Gu et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}." +613342,"Mseleni joint disease is a familial degenerative osteoarthropathy affecting several hundred persons in a remote rural region of northern Zululand, South Africa. The condition presents in childhood and progresses relentlessly, leading to severe physical handicap by early adulthood (summary by {1:Agarwal et al., 1997})." +613343,"Handigodu disease is a autosomal dominant spondyloepimetaphyseal dysplasia prevalent in a few villages of 2 districts of the state of Karnataka in southern India ({2:Agarwal et al., 1994})." +613364,"For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600})." +613371,"For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +613387,"For a general phenotypic description and a discussion of genetic heterogeneity of nonalcoholic fatty liver disease, see NAFLD1 ({613282})." +613390,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {1:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +613402,"Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients develop refractory seizures in infancy, consistent with a developmental and epileptic encephalopathy (DEE), whereas others have more well-controlled seizures and a more protracted course associated with cerebellar atrophy and peripheral neuropathy ({2:Shen et al., 2010} and {1:Poulton et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +613407,See {609888} for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. +613410,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({1:Bailey et al., 1996}; {4:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({2:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({5:Schellenberg et al., 2006}).\n\nFor a discussion of heterogeneity of autism, see {209850}." +613411,"Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by {3:Fuchs et al., 1995}).\n\nFor a general description and a discussion of genetic heterogeneity of Oguchi disease, see CSNBO1 ({258100})." +613412,"For a general phenotypic description and a discussion of genetic heterogeneity of eosinophilic esophagitis, see EOE1 ({610247})." +613435,"Amyotrophic lateral sclerosis-12 with or without frontotemporal dementia (ALS12) is a neurodegenerative disorder characterized by onset of ALS in adulthood. Rare patients may also develop frontotemporal dementia (FTD). Autosomal dominant and autosomal recessive inheritance patterns have been reported; there is also sporadic occurrence (summary by {3:Maruyama et al., 2010} and {1:Feng et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400})." +613436,"Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({1:Bailey et al., 1996}; {4:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({3:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({5:Schellenberg et al., 2006}).\n\nFor a discussion of genetic heterogeneity of autism, see {209850}." +613440,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +613443,"Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (NEDHSIL) is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities. Almost all affected individuals demonstrate repetitive stereotypic hand movements that can be categorized as hyperkinetic and resembling those of Rett syndrome (RTT; {312750}). About 80% of patients develop various types of seizures that may be refractory to treatment. Additional features may include dysmorphic facial features, particularly dysplastic ears, poor eye contact, episodic hyperventilation, tendency to infection, and abnormalities on brain imaging, such as enlarged ventricles, thin corpus callosum, and delayed myelination (summary by {11:Vrecar et al., 2017}, {9:Paciorkowski et al., 2013})." +613444,"The deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene ({608937}), is associated with a highly penetrant form of isolated severe early-onset obesity as well as obesity with developmental delay (summary by {1:Bachmann-Gagescu et al., 2010}).\n\nAn extended 1.7-Mb deletion of chromosome 16p11.2 containing both the 220-kb region and the proximal 593-kb region associated autism (see {611913}) has been reported in 2 patients with a syndrome of autism, mental retardation, and obesity and in 2 patients with pervasive developmental disorder, auditory processing difficulties, and attention deficit-hyperactivity disorder but not obesity.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see {606641}." +613454,"The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; {312750}), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene ({300005})." +613477,"Developmental and epileptic encephalopathy-5 (DEE5) is a neurologic disorder characterized by global developmental delay and the onset of tonic seizures or infantile spasms in the first months of life. The seizures tend to be refractory to treatment, and EEG shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severely impaired psychomotor development with lack of visual attention, poor head control, feeding difficulties, microcephaly, and spastic quadriplegia. Brain imaging may show cerebral atrophy and hypomyelination (summary by {4:Saitsu et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}." +613480,"Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {3:Gordon et al., 2013} and {1:Balboa-Beltran et al., 2014}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see {153100}." +613485,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({1:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500})." +613488,"Myxoid liposarcoma is a soft tissue tumor that tends to occur in the limbs (especially the thigh) of patients ranging in age from 35 to 55 years. It is defined by the presence of a hypocellular spindle cell proliferation set in a myxoid background, often with mucin pooling. Lipoblasts tend to be small and often monovacuolated and to cluster around vessels or at the periphery of the lesion (review by {4:Dei Tos, 2000})." +613490,"Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. The most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age ({20:Crystal, 1990})." +613517,"Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by {5:Gal et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 ({251600})." +613518,"For a clinical description of atopic dermatitis (ATOD) and an overview of linkage studies, see ATOD1 ({603165})." +613519,"For a clinical description of atopic dermatitis (ATOD) and an overview of linkage studies, see ATOD1 ({603165})." +613523,"The 8p11 myeloproliferative syndrome is a rare aggressive condition characterized in its typical form by the occurrence, either simultaneously or sequentially, of a BCR/ABL-negative myeloproliferative disorder and a lymphoma, usually a precursor T-lymphoblastic lymphoma. The disease most often terminates in acute myeloid leukemia ({4:Goradia et al., 2008})." +613530,"Limb-girdle muscular dystrophy type 1H (LGMD1H) is an autosomal dominant disorder characterized by adult onset of progressive proximal muscle weakness affecting both the upper and lower limbs ({1:Bisceglia et al., 2010}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 ({603511})." +613544,"The cardinal features of chromosome 6q11-q14 interstitial deletions include hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate (summary by {5:Wang et al., 2009})." +613545,"Macrostomia is a congenital defect resulting from persistent lateral facial clefts, caused by failure of the maxillary and mandibular portions of the first branchial arch to unite normally. Macrostomia is a rare anomaly, with an estimated incidence of 1 in 150,000 to 300,000 births and is most often associated with other anomalies. Unilateral macrostomia is more common than bilateral (summary by {3:Hawkins et al., 1973})." +613546,"Aromatase deficiency is a rare autosomal recessive disorder in which individuals cannot synthesize endogenous estrogens. If a fetus lacks aromatase activity, dehydroepiandrosterone sulfate produced by the fetal adrenal glands cannot be converted to estrogen by the placenta, and is converted to testosterone peripherally and results in virilization of both fetus and mother. Virilization manifests as pseudohermaphroditism in female infants, with hirsutism and acne in the mother; the maternal indicators resolve following delivery. Affected females are usually diagnosed at birth because of the pseudohermaphroditism. Cystic ovaries and delayed bone maturation can occur during childhood and adolescence in these girls, who present at puberty with primary amenorrhea, failure of breast development, virilization, and hypergonadotropic hypogonadism. Affected males do not present with obvious defects at birth. Their clinical symptoms include tall stature, delayed skeletal maturation, delayed epiphyseal closure, bone pain, eunuchoid body proportions, and excess adiposity. Estrogen replacement therapy reverses the symptoms in males and females (summary by {9:Jones et al., 2007})." +613547,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +613548,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +613549,"For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 ({606255})." +613554,"Von Willebrand disease is the most common inherited bleeding disorder. It is characterized clinically by mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. It results from a defect in platelet aggregation due to defects in the von Willebrand factor. Von Willebrand factor is a large, multimeric protein that plays a role in platelet adhesion and also serves as a carrier for the thrombotic protein factor VIII (F8; {300841}). F8 is mutated in hemophilia A ({306700}) (review by {11:Goodeve, 2010}).\n\nWhereas von Willebrand disease types 1 ({193400}) and 3 ({277480}) are characterized by quantitative defects in the VWF gene, von Willebrand disease type 2, which is divided in subtypes 2A, 2B, 2M, and 2N, is characterized by qualitative abnormalities of the VWF protein. The mutant VWF protein in types 2A, 2B, and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind F8. VWD2 accounts for 20 to 30% of cases of VWD ({27:Mannucci, 2004}; {47:Sadler et al., 2006}; {25:Lillicrap, 2009}; {11:Goodeve, 2010}).\n\nFor a general discussion and a classification of the types of von Willebrand disease, see VWD type 1 ({193400})." +613561,"Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by {3:Riley et al., 2013}).\n\nFor a discussion of genetic heterogeneity of MLASA, see MLASA1 ({600462})." +613563,"Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1; {163950}) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity (summary by {3:Martinelli et al., 2010}). Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML; {607785}), as also seen in patients with Noonan syndrome (summary by {4:Niemeyer et al., 2010})." +613571,"This rare variant of congenital adrenal hyperplasia, caused by mutations in the POR gene, results in apparent combined deficiency of P450C17 ({609300}) and P450C21 ({613815}) and accumulation of steroid metabolites. The most striking phenotypic feature is that affected girls are born with ambiguous genitalia, indicating intrauterine androgen excess. After birth, however, virilization does not progress and amounts of circulating androgens are low or normal. Affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, sometimes suggesting the pattern seen in patients with Antley-Bixler syndrome (see {207410}) (summary by {1:Arlt et al., 2004})." +613573,"Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth enamel hypoplasia, conical-shaped teeth, palmoplantar keratoderma, and partial cutaneous syndactyly (summary by {5:Raza et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Ectodermal Dysplasia-Syndactyly Syndrome\n\nEctodermal dysplasia-syndactyly syndrome-2 (EDSS2; {613576}) maps to chromosome 7p21-p14." +613576,"For a general phenotypic description and a discussion of genetic heterogeneity of ectodermal dysplasia-syndactyly syndrome, see EDSS1 ({613573})." +613581,"Retinitis pigmentosa-56 (RP56) is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity ({1:Bandah-Rozenfeld et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +613587,"Occult macular dystrophy is characterized by progressive decline of visual acuity in both eyes, associated with a normal fundus and normal fluorescein angiography. Patients have normal full-field electroretinograms (ERGs) but severely reduced focal macular ERGs, as recorded by conventional techniques using small stimuli under background illumination. OCMD patients are believed to have localized retinal dysfunction distal to the ganglion cells in the central retina (summary by {9:Piao et al., 2000})." +613600,"Torsade de pointes is characterized by an electrocardiographic (ECG) pattern of nonuniform but still-organized electrical activity with progressive changes in morphology, amplitude, and polarity of the QRS complexes, the peaks of which twist around the isoelectric baseline before ending spontaneously. In classic torsade de pointes, the coupling interval of the first beat is long (see LQT1, {192500}), whereas in this short-coupled variant, the coupling interval of the first beat is very short (summary by {1:Leenhardt et al., 1994})." +613601,"Electrocardiographic (ECG) early repolarization, defined as an elevation of the QRS-ST junction (J-point) of at least 1.0 mm (0.1 mV) from baseline in the inferior or lateral lead, manifest as QRS slurring or notching, is a common ECG finding that is generally considered to be benign but may be associated with ventricular fibrillation in some patients (summary by {1:Haissaguerre et al., 2008})." +613604,"The chromosome 16p12.2-p11.2 deletion syndrome is characterized phenotypically by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. Additional features, such as heart defects and short stature, are variable ({1:Ballif et al., 2007}; {2:Battaglia et al., 2009}).\n\nThe pericentric region of chromosome 16, specifically involving 16p12-p11, is a structurally complex region enriched in repetitive sequence elements, rendering this region susceptible to deletion or rearrangement ({1:Ballif et al., 2007}). There are several phenotypes associated with variation in this region: see {611913} for a deletion or duplication at 16p11.2 associated with autism; see {136570} for discussion of a recurrent 520-kb deletion at 16p12.1 associated with developmental delay and craniofacial dysmorphism; and see {613444} for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay.\n\n{2:Battaglia et al. (2009)} emphasized that the region at chromosome 16p11.2 that confers susceptibility to autism (AUTS14; see {611913}) is located more centromeric to and is distinct from the 16p12.2-p11.2 region involved in the multiple congenital anomalies and intellectual disability phenotype." +613608,"Familial adult myoclonic epilepsy-3 (FAME3) is an autosomal dominant neurologic disorder characterized by onset of cortical tremor, mainly affecting the hands and voice, between 10 and 40 years of age, with adult onset being more common. Most affected individuals develop epilepsy with generalized tonic-clonic seizures; some may have partial or absence seizures. The disorder is nonprogressive or slowly progressive, and most patients respond to antiseizure medication (summary by {2:Florian et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 ({601068})." +613610,"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by {1:Arts et al., 2011}).\n\nFor a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 ({218330})." +613616,"Primary hyperoxaluria is an autosomal recessive disorder of glyoxylate metabolism that results in excessive endogenous oxalate synthesis and the formation of calcium oxalate kidney stones. Progressive renal inflammation and interstitial fibrosis from advanced nephrocalcinosis, recurrent urolithiasis, and urinary tract infections can cause reduced renal function, systemic oxalate deposition, and end-stage renal failure. Compared to hyperoxaluria type I (HP1; {259900}) and type II (HP2; {260000}), HP3 appears to be the least severe, with good preservation of kidney function in most patients. The typical clinical characteristic is early onset of recurrent urolithiasis, but less active stone formation later (summary by {5:Wang et al., 2015}).\n\nFor a discussion of genetic heterogeneity of primary hyperoxaluria, see {259900}." +613625,"Combined deficiency of factor V ({612309}) and factor VIII ({300841}) is characterized by bleeding symptoms similar to those in hemophilia ({306700}) or parahemophilia ({227400}), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by {3:Zhang and Ginsburg, 2004})." +613628,"The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by {2:Stevens et al., 2009})." +613640,"Hereditary sensory and autonomic neuropathy type IC (HSAN1C) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2 and/or pyramidal signs. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic. (summary by {7:Rotthier et al., 2010}, {4:Gantner et al., 2019}, and {9:Triplett et al., 2019}). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits ({3:Fridman et al., 2019}).\n\nFor a discussion of genetic heterogeneity of HSAN, see HSAN1A ({162400})." +613647,"Spastic paraplegia-48 (SPG48) is an autosomal recessive neurologic disorder characterized by spasticity of the lower limbs resulting in gait difficulties. Most patients have onset in mid- or late-adulthood, although childhood onset has been reported in 1 patient. Additional features may include parkinsonism, urinary incontinence, neuropathy, and mild cognitive impairment (summary by {1:Hirst et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A ({270800})." +613652,"C1q deficiency is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see {152700}) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by {16:Topaloglu et al., 1996} and {17:Vassallo et al., 2007})." +613658,"Rajab interstitial lung disease with brain calcifications-1 (RILCBC1) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by {3:Xu et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Rajab Interstitial Lung Disease with Brain Calcifications\n\nAlso see Rajab interstitial disease with brain calcifications-2 (RILDBC2; {619013}), caused by mutation in the FARSA gene ({602918})." +613659,"In a review article on the genetic predisposition to gastric cancer, {3:Bevan and Houlston (1999)} concluded that several genes may be associated with an increased risk of gastric cancer.\n\nGastric cancer is a manifestation of a number of inherited cancer predisposition syndromes, including hereditary nonpolyposis colon cancer (HNPCC1; see {120435}), familial adenomatous polyposis (FAP; {175100}), Peutz-Jeghers syndrome (PJS; {175200}), Cowden disease (CD; {158350}), the Li-Fraumeni syndrome ({151623}), and diffuse gastric and lobular breast cancer syndrome (DGLBC; {137215}).\n\n{5:Canedo et al. (2007)} provided a review of genetic susceptibility to gastric cancer in patients infected with Helicobacter pylori (see {600263})." +613662,"Mitochondrial DNA depletion syndrome-4B (MTDPS4B) is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness ({3:van Goethem et al., 2003}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 ({603041})." +613670,"Intellectual developmental disorder with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by {4:Le Fevre et al., 2013})." +613673,"Congenital dyserythropoietic anemia type IV (CDAN4) is an autosomal dominant red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal hemoglobin (summary by {2:Arnaud et al., 2010}).\n\nFor a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see CDAN1 ({224120})." +613675,"Approximately 5 to 20% of all patients with neurofibromatosis type I ({162200}) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions ({16:Riva et al., 2000}; {7:Jenne et al., 2001}), which is caused by nonallelic homologous recombination of NF1 repeats A and C ({4:Dorschner et al., 2000}). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas ({26:Venturin et al., 2004}), and an increased risk for malignant peripheral nerve sheath tumors ({2:De Raedt et al., 2003})." +613676,"Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features ({2:Faivre et al., 2002}).\n\nFor a general description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}." +613677,"This form of hyperaldosteronism is characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with glucocorticoid-remediable aldosteronism (GRA, or FH I; {103900}), patients with FH III present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. However, hypertension and aldosteronism in FH III are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension ({4:Geller et al., 2008}).\n\n<Subhead> Reviews\n\n{7:Mulatero et al. (2013)} reviewed the role of KCNJ5 in adrenal pathophysiology and provided an overview of the clinical and biochemical phenotypes resulting from KCNJ5 mutations in patients with sporadic and familial primary aldosteronism. The authors stated that the prevalence of FH III appeared to be 7% of patients with familial aldosteronism and 0.3% of all cases of primary hyperaldosteronism. In addition, they noted that the total prevalence of reported KCNJ5 mutations in aldosterone-producing adrenal adenomas (APAs) was 40%." +613678,"The term 'brachyolmia' was coined to designate a bone dysplasia characterized clinically by short trunk dwarfism and radiographically by generalized platyspondyly without significant long bone abnormalities. The Maroteaux type of brachyolmia is an autosomal recessive form in which there is rounding of the anterior and posterior vertebral borders, with less elongation on lateral view and less lateral extension on anteroposterior view than is seen in the Hobaek type of brachyolmia ({271530}). Maroteaux brachyolmia may also be associated with precocious calcification of the falx cerebri, and minor facial anomalies (summary by {1:Shohat et al., 1989}).\n\nFor a discussion of genetic heterogeneity of brachyolmia, see {271530}." +613679,"Prothrombin deficiency is an extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin; it affects about 1 in 2,000,000 individuals. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein. Bleeding symptoms are more variable, depending on the amount of residual functional activity. Variant prothrombin gene alleles can result in 'hypoprothrombinemia' or 'dysprothrombinemia,' and individuals who are compound heterozygous for these 2 types of alleles have variable manifestations. Heterozygous mutation carriers, who have plasma levels between 40 and 60% of normal, are usually asymptomatic, but can show bleeding after tooth extraction or surgical procedures (review by {15:Lancellotti and De Cristofaro, 2009})." +613680,"Beaulieu-Boycott-Innes syndrome (BBIS) is an autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate to severe intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, cryptorchidism in males, submucous cleft palate, and corpus callosum dysgenesis, may also be present (summary by {4:Beaulieu et al., 2013} and {2:Amos et al., 2017})." +613684,"Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile ({7:Rubinstein and Taybi, 1963}; review by {5:Hennekam, 2006}).\n\nAbout 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene ({600140}). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 ({2:Bartsch et al., 2010}).\n\nFor a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 ({180849})." +613688,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({7:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500})." +613693,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({2:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500})." +613695,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({1:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500})." +613700,"Carriers of the balanced constitutional translocation t(8;22)(q24.13;q11.2) are phenotypically normal but are at risk of having progeny with supernumerary der(22)t(8;22) syndrome as a result of malsegregation of the der(22). Although the supernumerary der(22)t(8;22) phenotype is variable between individuals, it tends to include ear and extremity abnormalities in addition to mild mental retardation (summary by {6:Sheridan et al., 2010})." +613702,"Klippel-Feil syndrome is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ({1:Tracy et al., 2004}).\n\nFor a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 ({118100})." +613704,{1:Ye et al. (2010)} reported 2 patients with isolated unilateral microphthalmia and mutation in the GDF3 gene. +613706,"Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by {1:Sarkozy et al., 2009})." +613708,"Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by {1:Guelly et al., 2011}).\n\nFor a discussion of genetic heterogeneity of HSAN, see HSAN1A ({162400}).\n\nSpastic paraplegia-3A (SPG3A; {182600}) is an allelic disorder with a different phenotype." +613710,"Thiamine metabolism dysfunction syndrome-4 is an autosomal recessive metabolic disorder characterized by childhood onset of episodic encephalopathy, often associated with a febrile illness, and causing transient neurologic dysfunction. Most patients recover fully, but some may have mild residual weakness. Affected individuals also develop a slowly progressive axonal polyneuropathy beginning in childhood. Brain imaging during the acute episodes shows lesions consistent with bilateral striatal degeneration or necrosis (summary by {6:Spiegel et al., 2009}).\n\nFor a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 ({249270})." +613711,"The disorder described by {5:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\n{6:Hofstra et al. (1997)} discussed the possible role of GDNF in the pathogenesis of Hirschsprung disease.\n\nFor a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see {142623}." +613712,"The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}).\n\nIsolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).\n\nFor a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see {142623}." +613717,"Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss ({1:Dauwerse et al., 2011}).\n\nFor additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 ({154500})." +613720,"Developmental and epileptic encephalopathy-7 (DEE7) is a neurologic disorder characterized by the onset of refractory seizures in early infancy, often in the neonatal period. Affected individuals have resultant delayed neurologic development and persistent neurologic abnormalities. EEG initially shows a burst suppression pattern, consistent with a clinical diagnosis of Ohtahara syndrome, which may later evolve to multifocal epileptiform activity. Brain imaging in some patients shows lesions in the basal ganglia. Seizures usually remit by age 3 or 4 years, with improvement of EEG abnormalities and possibly brain imaging abnormalities, but the severe neurologic deficits persist (summary by {1:Borgatti et al., 2004} and {5:Weckhuysen et al., 2012})." +613721,"Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. Some patients may have later onset. Seizures comprise multiple types, including tonic, generalized, and myoclonic, and tend to be refractory to medication. However, some patients with onset of seizures before 3 months of age may respond to sodium channel blockers, particularly phenytoin. About half of patients become seizure-free in childhood. Affected individuals have global developmental delay, usually with severely impaired intellectual development, although some may be less severely affected and show autism spectrum disorder. Additional common features include microcephaly, hypotonia, and abnormal movements, such as dystonia, dyskinesias, and choreoathetotic movements. Brain imaging may show white matter defects. The phenotype is highly variable, even in patients with the same mutation (summary by {6:Ogiwara et al., 2009}; {4:Howell et al., 2015}; {10:Wolff et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +613722,"Developmental and epileptic encephalopathy-12 (DEE12) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first year of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show severe developmental regression and stagnation. Seizure types vary: focal seizures, infantile spasms, and generalized tonic-clonic seizures may occur, even within the same patient. EEG may show hypsarrhythmia, consistent with West syndrome, or a pattern consistent with 'malignant migrating partial seizures in infancy' (MMPSI). Patients have little or no developmental progress: there is absent speech, hypotonia, poor motor skills, peripheral spasticity, and impaired visual fixation (summary by {1:Kurian et al., 2010} and {2:Poduri et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}." +613723,"Autosomal recessive limb-girdle muscular dystrophy-17 (LGMDR17) is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by {1:Gundesli et al., 2010}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 ({253600})." +613728,"Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by {2:Vermeer et al., 2010}). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment ({1:Balreira et al., 2014})." +613729,"Hemizygous 1.2-Mb deletion of the distal region of chromosome 7q11.23 is associated with increased risk for epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities ({4:Ramocki et al., 2010})." +613730,"HDBSCC is an autosomal recessive disorder with a distinctive phenotype comprising hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy (summary by {1:Akawi et al., 2013})." +613733,"The MEN1 gene encodes menin, a nuclear scaffold protein that regulates gene transcription by coordinating chromatin remodeling. Menin interacts with several transcription factors, including JUND ({165162}), NFKB ({164011}), and SMAD3 ({603109}). MEN1 is considered to act as a tumor suppressor gene (summary by {9:Canaff et al., 2012})." +613736,"Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by {4:Wang et al., 2010}). Some patients with PSENEN-associated acne inversa also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease (DDD; see {179850}) ({5:Zhou et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of acne inversa, see {142690}." +613737,"Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by {1:Wang et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial acne inversa, see {142690}." +613743,"P450scc deficiency is a rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are grossly elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure (summary by {4:Kim et al., 2008}).\n\nAlthough hormonal and phenotypic features can resemble those of congenital lipoid adrenal hyperplasia (lipoid CAH; {201710}), no patient with P450scc deficiency has been described with the massive adrenal enlargement typical of lipoid CAH (summary by {6:Sahakitrungruang et al., 2011})." +613744,"Spastic paraplegia-51 (SPG51) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity. Affected individuals also have global developmental delay with impaired intellectual development and poor or absent speech (summary by {4:Moreno-De-Luca et al., 2011}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +613751,"Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another ({3:Srivastava, 1997}). Heterotaxy is a clinically and genetically heterogeneous disorder.\n\nFor a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 ({306955})." +613759,"Immunodeficiency-90 with encephalopathy, functional hyposplenia, and hepatic dysfunction (IMD90) is a autosomal recessive complex immunologic disorder with systemic manifestations in addition to primary immunodeficiency. Affected individuals usually present in infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging. There is also liver involvement and functional hyposplenism, causing increased susceptibility to invasive pneumococcal infection, which may be fatal. Susceptibility to viral infections likely results from impaired interferon immunity, and bacterial infections likely result from splenic dysfunction. A subset of patients have congenital cardiac malformations. Most individuals demonstrate developmental delay and speech delay. Laboratory findings in affected individuals are similar to those seen in autoimmune lymphoproliferative syndrome (ALPS; {601859}), including high-circulating CD4-/CD8-/TCR-alpha-beta+ (double-negative) T-cell (DNT) counts, and elevated IL10 ({124092}) and FASL (TNFSF6; {134638}) levels, but the clinical features are somewhat different from ALPS: massive lymphadenopathy and autoimmune features are not observed in IMD90 (summary by {1:Bolze et al., 2010}, {3:Savic et al., 2015} and {2:Kohn et al., 2020})." +613763,"Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as congenital posterior polar, congenital lamellar, and juvenile. Autosomal dominant and autosomal recessive forms have been described.\n\nThe preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 2; CTPP2.'" +613778,"Age-related macular degeneration (ARMD) is a common complex disorder that affects the central region of the retina (macula) and is the leading cause of legal blindness in white Americans over age 65. Contributions of environmental factors and genetic susceptibility have been identified. The strongest nongenetic risk factor for ARMD is cigarette smoking.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of ARMD, see {603075}." +613779,"The main clinical manifestation of primary C3 deficiency is childhood-onset of recurrent bacterial infections, mainly caused by gram-negative bacteria, such as Neisseria meningitidis, Enterobacter aerogenes, Haemophilus influenzae, and Escherichia coli; infections with gram-positive bacteria also occur. Infections in the upper and lower respiratory tract, including pneumonia, episodes of sinusitis, tonsillitis, and otitis, are the most frequent consequence of the C3 deficiency. Approximately 26% of patients with C3 deficiency develop immune complex-mediated autoimmune diseases resembling systemic lupus erythematosus (see {152700}), and about 26% of patients develop mesangiocapillary or membranoproliferative glomerulonephritis, resulting in renal failure (summary by {12:Reis et al., 2006})." +613789,"Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years ({6:Ross and Densen, 1984}).\n\nTwo types of inherited C8 deficiency have been reported in humans: type I ({613790}), in which only C8 alpha (C8A, {120950}) and C8 gamma (C8G; {120930}) are deficient, and type II, in which only C8 beta is deficient ({2:Marcus et al., 1982}; {9:Tedesco et al., 1983}). The 2 types are clinically indistinguishable ({6:Ross and Densen, 1984})." +613790,"Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years ({8:Ross and Densen, 1984}).\n\nTwo kinds of inherited C8 deficiency have been reported in humans: type I, in which only C8 alpha and C8 gamma are deficient, and type II ({613789}), in which only C8 beta (C8B; {120960}) is deficient ({4:Marcus et al., 1982}; {9:Tedesco et al., 1983}). The 2 types are clinically indistinguishable ({8:Ross and Densen, 1984})." +613791,"MASP2 deficiency, classically defined as MASP2 protein level of less than 100 ng/ml, occurs in about 4% of Caucasians and up to 18% of some African populations. Some MASP2-deficient individuals have increased risk of infection or autoimmune disease, but most are asymptomatic. MASP2 plays a role in activation of the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by {4:Thiel et al., 2007} and {1:Sokolowska et al., 2015}).\n\nFor a discussion of genetic heterogeneity of lectin complement activation pathway defects, see LCAPD1 ({614372})." +613792,"Characteristic features of the distal 3p- syndrome include low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. Postaxial polydactyly, renal anomalies, cleft palate, congenital heart defects (especially atrioventricular septal defects), preauricular pits, sacral dimple, and gastrointestinal anomalies are variable features. Although intellectual deficits are almost invariably associated with cytogenetically visible 3p deletions, rare patients with a 3p26-p25 deletion and normal intelligence or only mild abnormalities have been described (summary by {17:Shuib et al., 2009})." +613796,"IMD31B results from autosomal recessive (AR) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA ({147660})/IFNB ({147640}) (type I interferon) and IFNG ({147570}) (type III interferon). AR STAT1 deficiency affects both the IFNA/IFNB and the IFNG pathways, resulting in susceptibility to mycobacteria, Salmonella, and viruses, with a severe disease course and often fatal outcome (review by {1:Al-Muhsen and Casanova, 2008})." +613806,"Primary sclerosing cholangitis (PSC) is a slowly progressive cholestatic liver disease characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. It is a major indication for liver transplantation ({5:Sheth et al., 2003}).\n\nApproximately 75 to 80% of PSC cases are associated with inflammatory bowel disease (IBD; see {266600}), and 2.5 to 7.5% of patients with IBD develop PSC ({3:Lee and Kaplan, 1995})." +613807,"Primary ciliary dyskinesia-14 (CILD14) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization ({3:Merveille et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +613808,"Primary ciliary dyskinesia-15 (CILD15) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (summary by {2:Becker-Heck et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +613811,"PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by {2:Ben-Zeev et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A ({277470})." +613812,"Congenital bile acid synthesis defect-3 (CBAS3) is an autosomal recessive disorder characterized by prolonged jaundice after birth, hepatomegaly, conjugated hyperbilirubinemia, elevations in characteristic abnormal bile acids, and progressive intrahepatic cholestasis with liver fibrosis (summary by {1:Setchell et al., 1998} and {2:Ueki et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see {607765}." +613818,"MDDGC9 is an autosomal recessive muscular dystrophy showing onset in early childhood. It is part of a group of similar disorders resulting from defective glycosylation of DAG1, collectively known as 'dystroglycanopathies' (summary by {3:Hara et al., 2011}).\n\nFor a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 ({609308})." +613819,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {2:Huber and Cormier-Daire, 2012} and {4:Schmidts et al., 2013}). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500})." +613823,"Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by {1:Kalay et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}." +613824,"Nephronophthisis (NPHP) is an autosomal recessive kidney disease that leads to kidney cyst formation and progressive renal failure. NPHP is the most frequent genetic cause of end-stage renal failure in the first 3 decades of life (summary by {1:Otto et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of NPHP, see NPHP1 ({256100})." +613826,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {1:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}." +613828,"Generalized epilepsy with febrile seizures-plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. Seizure phenotypes include classic infantile febrile seizures, febrile seizures persisting beyond age 6 years or accompanied by afebrile generalized tonic-clonic seizures (GTCS), generalized or localization-related epilepsy, and more rarely, severe seizures with encephalopathy (summary by {1:Poduri et al., 2009}).\n\nFor a discussion of genetic heterogeneity of GEFS+, see {604233}." +613829,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {1:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}." +613830,"CSNB1D is an autosomal recessive form of congenital stationary night blindness that is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients with Riggs-type CSNB have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by {2:Riazuddin et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A ({310500})." +613834,"Multisystemic smooth muscle dysfunction syndrome (MSMDS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder. It is caused by heterozygous mutations of the ACTA2 gene altering the arginine-179 codon (summary by {7:Regalado et al., 2018}).\n\nSee also familial thoracic aortic aneurysm (AAT6; {611788}) and moyamoya disease-5 (MYMY5; {614042}), which can also be caused by ACTA2 mutation." +613835,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {2:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}." +613837,"Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by {2:Chung and Traboulsi, 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}." +613839,"Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy ({1:Banka et al., 2011}) to childhood absence epilepsy with learning difficulties to lack of symptoms ({2:Cario et al., 2011}). Treatment with folinic acid can ameliorate some of the symptoms." +613843,"Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (summary by {2:Gu et al., 1997}).\n\nMutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; {600132}).\n\nFor a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 ({204000}); for retinitis pigmentosa, see {268000}." +613845,"HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely (summary by {1:Belostotsky et al., 2011})." +613848,"Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera ({1:Christiansen et al., 2010})." +613849,"Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by {2:Lapunzina et al., 2010})." +613854,"Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle ({1:Jin et al., 2017}).\n\nFor a discussion of genetic heterogeneity of multiple types of congenital heart defects, see {306955}." +613856,"Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus ({2:Kohl et al., 2002}).\n\nFor a general description and a discussion of genetic heterogeneity of achromatopsia, see {216900}." +613857,"For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see OFC1 ({119530}).\n\nSee also van der Woude syndrome-2 (VWS2; {606713}), which maps to chromosome 1p34." +613860,"Individuals with ficolin-3 deficiency have highly variable manifestations and a variable age of symptom onset. Some patients may show increased susceptibility to infection in the perinatal or neonatal period, whereas others may show autoimmune features as adults. Ficolin-3, also known as H-ficolin, can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by {3:Munthe-Fog et al., 2009} and {1:Michalski et al., 2015}).\n\nFor a discussion of genetic heterogeneity of lectin complement activation pathway defects, see LCAPD1 ({614372})." +613862,"Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by {4:Mackay et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +613863,"Patients with isolated febrile seizures (FEB3B) usually have onset between ages 5 months to 4 years and show spontaneous remission by age 6 years (summary by {5:Singh et al., 2009}), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by {6:Singh et al., 1999}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}." +613869,"Fatal infantile hypertonic myofibrillar myopathy is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years (summary by {1:Del Bigio et al., 2011})." +613877,"Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by {2:Gandotra et al., 2011}). Other features may include hepatic steatosis, acanthosis nigricans, polycystic ovary syndrome, and renal disease (summary by {1:Chen et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see {151660}." +613884,"The chromosome 13q14 deletion syndrome is characterized by retinoblastoma ({180200}), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by {2:Caselli et al., 2007})." +613885,"Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by {1:Shaheen et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 ({249000})." +613886,"OBHD is a neurodevelopmental disorder characterized by global developmental delay and hyperphagia resulting in obesity. Some patients may develop seizures (summary by {1:Hamdan et al., 2017})." +613908,"Spinocerebellar ataxia-35 is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by {1:Guo et al., 2014})." +613909,"Spinocerebellar ataxia-32 (SCA32) is an autosomal dominant neurologic disorder characterized by ataxia, variable mental impairment, and azoospermia in males (summary by {1:Jiang et al., 2010}).\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +613912,"Complement factor D deficiency is an autosomal recessive immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway (summary by {1:Biesma et al., 2001})." +613913,"Acquired partial lipodystrophy (APLD) is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities. A large group of patients (83%) with acquired partial lipodystrophy have low serum levels of complement component C3 due to the presence of C3 nephritic factor, an IgG antibody that causes continuous activation of the alternative complement pathway and consumption of serum C3. About 22% of patients with this acquired complement defect develop membranoproliferative glomerulonephritis. Some individuals may also show an increased risk of infection ({6:Misra et al., 2004}).\n\nAcquired partial lipodystrophy is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by {3:Hegele et al., 2006}). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1) (summary by {6:Misra et al., 2004}).\n\nSee {608709} for a subtype of APLD not associated with low complement C3 or renal disease." +613925,"Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by {1:Lopez-Hernandez et al., 2011}).\n\nHeterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B; {613926})." +613926,"Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by {2:van der Knaap et al., 2010} and {1:Lopez-Hernandez et al., 2011}).\n\nHomozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A; {613925}).\n\nFor a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 ({604004})." +613930,"For a discussion of genetic heterogeneity of alopecia-intellectual disability syndrome, see APMR1 ({203650})." +613938,"Sleepwalking (SW) is a disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep ({2:American Academy of Sleep Medicine, 2005}). It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states (summary by {6:Hublin and Kaprio, 2003}). Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%) ({5:Hublin et al., 1997})." +613943,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {4:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({7:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {3:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300})." +613944,"For a phenotypic description and a discussion of genetic heterogeneity of IgA nephropathy, see IGAN1 ({161950})." +613951,"Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by {2:Kim et al., 2011}).\n\nFor a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}." +613953,"Immunodeficiency-51 (IMD51) is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A ({603149}), IL17F ({606496}), IL17A/F, and IL17E (IL25; {605658}) (summary by {2:Levy et al., 2016})." +613954,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-6 (FTDALS6) is an autosomal dominant neurodegenerative disorder with highly variable manifestations. Some patients present in adulthood with progressive FTD, often classified as the 'behavioral variant,' which is characterized by reduced empathy, impulsive behavior, personality changes, and reduced verbal output. Other patients present with features of amyotrophic lateral sclerosis (ALS), which is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of this disease include pallor of the corticospinal tract due to loss of motor neurons (in ALS). In both ALS and FTD, there are ubiquitin-positive inclusions within surviving neurons as well as deposition of pathologic TDP43 (TARDBP; {605078}) or p62 (SQSTM1; {601530}) aggregates. Patients with a D395G mutation ({601023.0014}) have been shown to develop pathologic tau (MAPT; {157140}) aggregates. Some patients with the disorder may have features of both diseases, and there is significant interfamilial and intrafamilial phenotypic variability (summary by {4:Johnson et al., 2010}; {7:Wong et al., 2018}; {2:Al-Obeidi et al., 2018}; {3:Darwich et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550})." +613955,"Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by {2:Tanaka et al., 2009}).\n\nFor a general description and a discussion of genetic heterogeneity of PLCA, see {105250}." +613958,"Spermatogenic failure-9 (SPGF9) is associated with globozoospermia, a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without an acrosome (summary by {3:Harbuz et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +613960,"Autosomal recessive chronic granulomatous disease-3 (CGD3) is an immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation with onset usually in the first decade of life. Most patients present with colitis and features of inflammatory bowel disease. Other common manifestations include lupus-like skin lesions, skin granulomas, Staphylococcal abscesses, oral ulcers, and periodontitis. Patients usually do not have invasive infections and are not markedly susceptible to fungal infections. The disorder results from variable loss of phagocyte superoxide production due to NADPH oxidase dysfunction; it is generally less severe than other genetic types of CGD (summary by {2:Matute et al., 2009}; {4:van de Geer et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; {306400})." +613969,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +613970,"MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by {7:Platzer et al., 2017})." +613972,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {1:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma, see {155600}." +613977,"Neonatal cyanosis is characterized by symptoms in the fetus and neonate that gradually abate by 5 to 6 months of age. The disorder is caused by a defect in the fetal hemoglobin chain, which causes reduced affinity for oxygen due to steric inhibition of oxygen binding and/or due to increased oxidation of the fetal hemoglobin molecule to methemoglobin (Hb FM), which has decreased oxygen-binding capacity. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain (HBB; {141900}) is produced and replaces the fetal gamma-globin chain (summary by {1:Crowley et al., 2011})." +613978,"Hemoglobin H disease is a subtype of alpha-thalassemia (see {604131}) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by {6:Lal et al., 2011}). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by {1:Chui et al., 2003}).\n\nHb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by {6:Lal et al., 2011}).\n\nWhile most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see {236750}." +613980,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}." +613981,"Hypotrichosis simplex can affect all body hair (generalized; see {605389}) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by {1:Betz et al., 2000}).\n\nFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 ({605389})." +613982,"Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder ({3:Glorieux et al., 2002}; {1:Becker et al., 2011})." +613985,"Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by {24:Ottolenghi et al., 1975}).\n\nAbsence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by {23:Olivieri (1999)}.\n\nThe remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors ({34:Weatherall, 2001})." +613987,"Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by {1:Vulliamy et al., 2008}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550})." +613988,"Dyskeratosis congenita is a genetic disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition caused by short telomeres resulting from a defect in telomerase. Clinical manifestations may be seen in the skin as leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues (summary by {2:Zhong et al., 2011}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550})." +613989,"Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by {1:Armanios et al., 2005}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550})." +613990,"Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by {3:Savage et al., 2008}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 ({127550})." +614008,"Nestor-Guillermo progeria syndrome (NGPS) is an autosomal recessive disorder characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life. Onset is after 2 years of age, and lifespan is relatively long (summary by {1:Cabanillas et al., 2011})." +614009,"Susceptibility to platelet-type bleeding disorder-13 is due to a defective thromboxane A2 receptor on platelets. The susceptibility is inherited in an autosomal dominant pattern, but clinical features, including mild mucocutaneous bleeding, occur only in the presence of a 'second hit' affecting platelet function; this second hit may be either in the TBXA2R gene or in another gene affecting the coagulation cascade (summary by {5:Mumford et al., 2010})." +614017,"Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms ({1:Mazor et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +614018,"Progressive myoclonic epilepsy-6 is an autosomal recessive neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade (summary by {1:Corbett et al., 2011}).\n\nFor a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A ({254800})." +614019,"Lissencephaly-4 (LIS4) is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profound mental retardation. It has also been referred to as 'microlissencephaly' (summary by {2:Bakircioglu et al., 2011} and {1:Alkuraya et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 ({607432})." +614021,"Catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is characterized by overlapping features of long QT syndrome (see {192500}) and CPVT. Affected individuals exhibit adrenergic ventricular tachycardia associated with a high prevalence of cardiac arrest and sudden cardiac death, with recurrent atrial tachycardia sometimes triggering the ventricular arrhythmias. In addition, affected individuals have a normal or mildly prolonged QTc on baseline electrocardiography, with a paradoxical QT increase during adrenergic simulation (summary by {2:Devalla et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see {604772}." +614022,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}." +614025,"Hepatic lipase deficiency is characterized by premature atherosclerosis, elevated total cholesterol, triglycerides (TG), and very low density lipoprotein (VLDL), as well as TG-rich low density lipoprotein (LDL) and HDL subfractions (summary by {5:Hegele et al., 1991})." +614034,"Heme oxygenase-1 deficiency (HMOX1D) is a rare autosomal recessive disorder with a complex clinical presentation including direct antibody negative hemolytic anemia, low bilirubin, and hyperinflammation (summary by {1:Chau et al., 2020}). Other features may include asplenia and nephritis ({6:Radhakrishnan et al., 2011})." +614039,"Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved (summary by {2:Poirier et al., 2010}).\n\nMutation in the TUBB3 gene can also cause congenital fibrosis of extraocular muscles-3A (CFEOM3A; {600638}), a milder and somewhat different neurologic phenotype.\n\n<Subhead> Genetic Heterogeneity of Complex Cortical Dysplasia With Other Brain Malformations\n\nSee also CDCBM2 ({615282}), caused by mutation in the KIF5C gene ({604593}) on chromosome 2q23; CDCBM3 ({615411}), caused by mutation in the KIF2A gene ({602591}) on chromosome 5q12; CDCBM4 ({615412}), caused by mutation in the TUBG1 gene ({191135}) on chromosome 17q21; CDCBM5 ({615763}), caused by mutation in the TUBB2A gene ({615101}) on chromosome 6p25; CDCBM6 ({615771}), caused by mutation in the TUBB gene ({191130}) on chromosome 6p21; CDCBM7 ({610031}), caused by mutation in the TUBB2B gene ({612850}) on chromosome 6p25; CDCBM9 ({618174}), caused by mutation in the CTNNA2 gene ({114025}) on chromosome 2p12; and CDCBM10 ({618677}), caused by mutation in the APC2 gene ({612034}) on chromosome 19p13.\n\nThe designation CDCBM8 was previously used to represent a phenotype caused by mutation in the TUBA8 gene (see {605742.0001}) on chromosome 22q11; the patients with this phenotype were subsequently found to have a homozygous mutation in the SNAP29 gene ({604202.0002}), also on chromosome 22q11, that was likely responsible for a similar disorder, CEDNIK syndrome ({609528}).\n\nSee also lissencephaly (e.g., LIS1, {607432}), which shows overlapping features and may result from mutation in tubulin genes." +614042,"Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by {2:Roder et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350})." +614049,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583})." +614050,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583})." +614065,"Williams distal myopathy is an autosomal dominant slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows nonspecific changes with no evidence of rods, necrosis, or inflammation (summary by {1:Duff et al., 2011}).\n\nMutation in the FLNC gene can also cause myofibrillar myopathy-5 (MFM5; {609524}), which shows a different pattern of muscle involvement and different histologic changes." +614066,"Spastic paraplegia-47 (SPG47) is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by {2:Abou Jamra et al., 2011}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +614067,"Spastic quadriplegia-52 (SPG52) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by {1:Abou Jamra et al., 2011}). Some patients may have seizures ({2:Hardies et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +614069,"Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by {2:de Greef et al., 2011}).\n\nFor a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 ({242860})." +614073,"Hermansky-Pudlak syndrome-4 (HPS4) is characterized by oculocutaneous albinism in association with easy bruising or a bleeding tendency and absence of platelet dense bodies. Some patients also exhibit pulmonary fibrosis and/or granulomatous colitis ({1:Anderson et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300})." +614074,"Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients ({2:Ringeisen et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300})." +614079,"Aspergillus species are ubiquitous in nature and cause a wide spectrum of diseases, including saprophytic colonization of existing cavities (aspergilloma), allergic asthma, hypersensitivity pneumonitis, allergic bronchopulmonary aspergillosis, and disseminated disease associated with high mortality rates in patients with hematologic malignancies and recipients of solid organs and stem cell transplantations. Immunocompetent and nonatopic individuals are relatively resistant to infection, and disease occurs in the setting of host damage. Association of persistent inflammation with intractable infection is common in nonneutropenic patients after hematopoietic stem cell transplantation, as well as in allergic fungal diseases. The pathophysiology underlying Aspergillus infection highlights the bipolar nature of the inflammatory process in infection, in which early inflammation prevents or limits infection, but an uncontrolled response may oppose disease eradication (summary by {6:Cunha et al., 2010}).\n\nFor information on familial occurrence of allergic bronchopulmonary aspergillosis, see {103920}." +614080,"Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by {4:Maydan et al., 2011}). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 ({610293}).\n\n<Subhead> Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome\n\nMCAHS2 ({300868}) is caused by mutation in the PIGA gene ({311770}) on chromosome Xp22, MCAHS3 ({615398}) is caused by mutation in the PIGT gene ({610272}) on chromosome 20q13, and MCAHS4 ({618548}) is caused by mutation in the PIGQ gene ({605754}) on chromosome 16p13.\n\n{3:Knaus et al. (2018)} provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. {3:Knaus et al. (2018)} concluded that a distinction between MCAHS and HPMRS1 ({239300}), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD)." +614082,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +614083,"Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by {2:Deakyne and Mazin, 2011}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +614090,"Sick sinus syndrome may be encountered at any age but is primarily a disease of the elderly and is often secondary to other cardiac disorders when diagnosed in younger individuals. Symptoms are often intermittent and/or nonspecific and include dizziness, syncope, and heart failure. The only effective treatment for symptomatic and irreversible sinus node dysfunction is permanent cardiac pacing, and sick sinus syndrome remains the most common indication for permanent pacemaker implantation (summary by {1:Holm et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of sick sinus syndrome, see SSS1 ({608567})." +614091,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {3:Huber and Cormier-Daire, 2012} and {6:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500})." +614096,"COXPD8 is an autosomal recessive disorder due to dysfunction of the mitochondrial respiratory chain. The main clinical manifestation is a lethal infantile hypertrophic cardiomyopathy, but there may also be subtle skeletal muscle and brain involvement. Biochemical studies show combined respiratory chain complex deficiencies in complexes I, III, and IV in cardiac muscle, skeletal muscle, and brain. The liver is not affected (summary by {1:Gotz et al., 2011}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +614097,"Acatalasemia, also known as acatalasia, is a metabolic disorder characterized by a total or near total loss of catalase activity in erythrocytes. About half of cases originate from ulcerating oral gangrenes, and these cases are referred to as having Takahara disease. Half-normal levels of catalase in heterozygotes is referred to as hypocatalasemia or hypocatalasia ({12:Ogata, 1991})." +614098,"Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by {5:Masotti et al., 2015})." +614099,"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by {1:Arts et al., 2011}).\n\nFor discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 ({218330})." +614103,"Lipedema is a disorder of adipose tissue characterized by fat legs and orthostatic edema. Characteristically, the buttocks and other parts of the lower extremities are symmetrically enlarged owing to accumulation of excess fat and fluid. The condition affects women almost exclusively and, in most instances, represents an exaggeration of the female form (summary by {4:Hines, 1952})." +614105,"Methylmalonate semialdehyde dehydrogenase deficiency is a rare autosomal recessive inborn error of metabolism with a highly variable phenotype. Some patients may be asymptomatic, whereas others show global developmental delay, nonspecific dysmorphic features, and delayed myelination on brain imaging. Laboratory studies typically show increased urinary 3-hydroxyisobutyric acid, although additional metabolic abnormalities may also be observed (summary by {4:Marcadier et al., 2013})." +614114,"Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from defects in cell division (summary by {4:Snape et al., 2011}).\n\nSee also MVA1 ({257300}), caused by mutation in the BUB1B gene ({602860}) on chromosome 15q15." +614115,"Occipital cortical malformations (OCCM) is an autosomal recessive condition in which affected individuals develop seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria restricted to the lateral occipital lobes (summary by {1:Barak et al., 2011})." +614116,"Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by {3:Klein et al., 2011}).\n\nFor a discussion of genetic heterogeneity of HSN, see HSAN1A ({162400})." +614120,"Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by {1:Putoux et al., 2011}).\n\nAcrocallosal syndrome (ACLS; {200990}) is an allelic disorder with a less severe phenotype.\n\nFor a discussion of genetic heterogeneity of hydrolethalus syndrome, see {236680}." +614129,"Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by {4:Jenkinson et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 ({233400})." +614131,"Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by {2:Mele et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278})." +614149,"Although nails appear normal at birth, dystrophic changes develop within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails (summary by {1:Rafiq et al., 2004}). This disorder is referred to here as nonsyndromic congenital nail disorder-9 (NDNC9).\n\nFor a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 ({161050})." +614153,"SCA36 is a slowly progressive neurodegenerative disorder characterized by adult-onset gait ataxia, eye movement abnormalities, tongue fasciculations, and variable upper motor neuron signs. Some affected individuals may develop hearing loss (summary by {1:Garcia-Murias et al., 2012}).\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +614156,"Hyperbiliverdinemia can manifest as green jaundice, which is a green discoloration of the skin, urine, serum, and other bodily fluids, due to increased biliverdin resulting from inefficient conversion to bilirubin. Although rarely reported, affected individuals appear to have symptoms only in the context of obstructive cholestasis and/or liver failure. In some cases, green jaundice can resolve after resolution of obstructive cholestasis. Green jaundice has also been associated with malnutrition, medication, and congenital biliary atresia (summary by {2:Huffman et al., 2009})." +614162,"IMD31C is disorder of immunologic dysregulation with highly variable manifestations resulting from autosomal dominant gain-of-function mutations in STAT1 ({600555}). Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG; {147570})-mediated inflammation (summary by {8:Uzel et al., 2013} and {5:Sampaio et al., 2013})." +614163,"Delayed sleep phase syndrome is a circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPD have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. Although psychosocial and environmental factors sometimes induce this kind of disorder, most patients with DSPD appear to have an abnormal circadian pacemaker and/or an abnormal entrainment system (summary by {1:Hohjoh et al., 2003})." +614164,"Several documented cases of glutathione peroxidase (GPX1; {138320}) deficiency in association with hemolytic anemia have been reported. However, {8:Paglia (1989)} stated: 'To date, no defects in glutathione peroxidase have been unequivocally incriminated in the pathogenesis of hemolytic syndromes, although several instances of partial deficiency have been reported in patients with anemias of unknown etiology. This association may be coincidental, since there is a broad range of ethnic variation in the erythrocyte enzyme' ({1:Beutler and Matsumoto, 1975})." +614166,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +614167,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +614170,"Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints ({1:Al-Hussain et al., 2004}). It is classified as a form of Ehlers-Danlos syndrome ({5:Malfait et al., 2017}).\n\nFor a discussion of genetic heterogeneity of brittle cornea syndrome, see BCS1 ({229200})." +614172,"This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anemia. Bone marrow transplantation is the only cure. Some patients may have an increased risk of miscarriage. Both autosomal dominant transmission and sporadic cases occur. Less common manifestations of GATA2 deficiency include lymphedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome' ({614038}) (summary by {1:Bigley et al. (2011)}, {5:Hsu et al. (2011)}, and {8:Spinner et al. (2014)})." +614188,"CRSDA is an autosomal recessive disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by {4:Nieminen et al., 2011})." +614196,"The nephrotic syndrome refers to a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema, resulting in end-stage kidney disease if untreated. Inherited defects in podocyte structure and function have been observed in some children with the steroid-resistant subtype of nephrotic syndrome (summary by {1:Ozaltin et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300})." +614198,"Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by {1:Arnold et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +614199,"Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus (summary by {1:Hasselbacher et al., 2006}).\n\nMutation in the LAMB2 gene can also cause Pierson syndrome ({609049}), which is characterized by nephrotic syndrome, distinct ocular anomalies, namely microcoria, and neurodevelopmental delay.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300})." +614201,"Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by {1:Dumont et al., 2009})." +614202,"Rafiq syndrome (RAFQS) is an autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern (summary by {1:Balasubramanian et al., 2019})." +614203,"Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {7:Wider et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}." +614204,"Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein ({123260}) (summary by {6:Marrakchi et al., 2011}). GPP often presents in patients with existing or prior psoriasis vulgaris (PV; see {177900}); however, GPP can develop without a history of PV ({10:Sugiura et al., 2013}). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by {9:Setta-Kaffetzi et al., 2013}).\n\nGPP in association with sterile multifocal osteomyelitis and periostitis ({612852}) is caused by mutation in the IL1RN gene ({147679}).\n\n{2:Capon (2013)} noted that the percentage of GPP patients reported to be negative for mutation in IL36RN ranges from 51 to 84%, indicative of genetic heterogeneity in the generalized pustular form of psoriasis.\n\nFor a discussion of genetic heterogeneity of psoriasis, see PSORS1 ({177900})." +614205,"3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by {2:Hanson et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 ({273750})." +614207,"Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by {2:Hansen et al., 2013}). However, the severity of the disorder can also vary to include milder intellectual disability ({3:Krawitz et al., 2013}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of HPMRS, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +614209,"Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by {1:Hopp et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 ({249000})." +614210,"For a general phenotypic description and a discussion of genetic heterogeneity of lung cancer, see {211980}." +614212,"Acute encephalopathy is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder (summary by {1:Chen et al., 2005}; {4:Shinohara et al., 2011}).\n\nFor a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see {610551}." +614213,"HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by {1:Riviere et al., 2011}).\n\nFor a discussion of genetic heterogeneity of HSN, see HSAN1 ({162400})." +614219,"Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by {10:Shaheen et al., 2011}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300})." +614220,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {3:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720})." +614221,"Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by {3:Kaplan, 1996}).\n\nFor a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 ({109720})." +614222,"Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by {5:Morris-Rosendahl et al., 2010}).\n\nFor a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}." +614223,"For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see {161400}." +614224,"Retinal arterial macroaneurysm is an autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction (summary by {1:Abu-Safieh et al., 2011})." +614227,"Familial juvenile hyperuricemia nephropathy-3 may be a distinct form of autosomal dominant tubulointerstitial kidney disease (ADTKD); however, because the mapping of the disorder in the families described by {1:Piret et al. (2011)} is tentative, it is possible that the families have a form of the disorder described in the ADTKD series (see ADTKD1, {162000})." +614230,"The chromosome 8q21.11 deletion syndrome is characterized by impaired intellectual development and common facial dysmorphic features (summary by {3:Palomares et al., 2011})." +614231,"Microcephaly, epilepsy, and diabetes syndrome-1 (MEDS1) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes (summary by {3:Poulton et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Microcephaly, Epilepsy, and Diabetes Syndrome\n\nMEDS2 ({619278}) is caused by mutation in the YIPF5 gene ({611483}) on chromosome 5q31." +614233,"Familial progressive hyperpigmentation (FPH) is a rare autosomal dominant disorder characterized by patches of hyperpigmentation in the skin, which are present at birth or in early infancy and increase in size and number with age (summary by {1:Zhang et al., 2006}).\n\nAlso see familial progressive hyperpigmentation with or without hypopigmentation (FPHH; {145250})." +614237,"For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}." +614238,"For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see {605389}." +614249,"MRT18 is an autosomal recessive disorder characterized by impaired intellectual development with or without epilepsy. Other features may include spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography (summary by {6:Trehan et al., 2015})." +614251,"Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by {1:Chartier-Harlin et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}." +614252,"Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {2:Krischek and Inoue, 2006}).\n\nFor a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 ({105800})." +614254,"NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by {4:Lemke et al., 2016})." +614255,"NESCAV syndrome (NESCAVS) is a neurodegenerative disorder characterized by onset of features in infancy or early childhood. Affected individuals show global developmental delay with delayed walking or difficulty walking due to progressive spasticity mainly affecting the lower limbs and often leading to loss of independent ambulation. There is variably impaired intellectual development, speech delay, and learning disabilities and/or behavioral abnormalities. Additional features may include cortical visual impairment, often associated with optic atrophy, axonal peripheral neuropathy, seizures, dysautonomia, ataxia, and dystonia. Brain imaging often shows progressive cerebellar atrophy and thin corpus callosum. Some patients may show developmental regression, particularly of motor skills. The phenotype and presentation are highly variable (summary by {6:Nemani et al., 2020})." +614257,"Chromosome 20q11-q12 deletion syndrome is characterized by global developmental delay, poor overall growth, sometimes with severe feeding difficulties, facial dysmorphism, and distal skeletal anomalies. Some patients may have hearing impairment, retinopathy, or cardiac defects. It is a multisystemic disorder with variable features (summary by {4:Loddo et al., 2018})." +614261,"The microcephaly-capillary malformation syndrome is a congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects (summary by {1:Carter et al., 2011} and {4:Mirzaa et al., 2011})." +614266,"Barrett esophagus, or Barrett metaplasia, describes the phenotypic change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. This metaplastic change is important because patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett metaplasia is gastroesophageal reflux (GER; {109350}). The retrograde movement of acid and bile salts from the stomach into the esophagus in this disease causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes (summary by {18:Wong et al., 2005})." +614278,"Deficiency of plasma platelet-activating factor acetylhydrolase results in increased levels of PAF, a chemotactic lipid that activates inflammatory cells, bronchoconstriction, and airway hyperresponsiveness, and can moderate the release of inflammatory agonists. Asthmatic individuals with PAF acetylhydrolase deficiency may have exacerbated symptoms (summary by {6:Stafforini et al., 1999})." +614280,"For general phenotypic information and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}." +614286,"Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; {601626}). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by {1:Delhommeau et al., 2009} and {6:Papaemmanuil et al., 2011})." +614293,"A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by {1:Fallahian et al., 2013}).\n\nFor a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 ({231090})." +614296,"Autosomal dominant Wolfram-like syndrome is characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges (summary by {6:Valero et al., 2008}).\n\nWolfram syndrome (WFS1; {222300}) is an autosomal recessive allelic disorder characterized by optic atrophy, diabetes mellitus, hearing loss, and diabetes insipidus, and is caused by homozygous or compound heterozygous mutation in the WFS1 gene.\n\nAn autosomal dominant syndrome involving optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy ({125250}), is caused by heterozygous mutation in the OPA1 gene ({605290})." +614298,"Neurodegeneration with brain iron accumulation-4 (NBIA4) is a neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by {2:Dogu et al., 2013}). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay ({1:Deschauer et al., 2012}). Both autosomal recessive and autosomal dominant inheritance have been reported (see INHERITANCE and MOLECULAR GENETICS).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 ({234200})." +614299,"Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by {1:Baker et al., 2014}).\n\nFor a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 ({605711})." +614300,"Hypermethioninemia due to adenosine kinase deficiency is an autosomal recessive inborn error of metabolism characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine (AdoMet) and S-adenosylhomocysteine (AdoHcy); homocysteine is typically normal (summary by {1:Bjursell et al., 2011})." +614302,"Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by {1:Liang et al., 2011}).\n\nFor a discussion of genetic heterogeneity of EDMD, see {310300}." +614303,"EDICT syndrome is an autosomal dominant syndromal anterior segment dysgenesis characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and thinning of the corneal stroma ({7:Iliff et al., 2012}).\n\nSyndromes with overlapping features have been reported, including cornea guttata with anterior polar cataracts ({121390}) and congenital corneal opacities, cornea guttata, and corectopia ({608484})." +614305,"Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by {1:Brunkow et al., 2001}).\n\nFor a discussion of genetic heterogeneity of sclerosteosis, see SOST1 ({269500})." +614307,"AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by {5:Smith et al., 2010})." +614317,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 ({193000})." +614318,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 ({193000})." +614319,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 ({193000})." +614322,"Autosomal recessive spinocerebellar ataxia-12 is a neurologic disorder characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia. Some patients may also show spasticity (summary by {2:Mallaret et al., 2014})." +614323,"Linear and whorled hypermelanosis (LWNH) is a benign skin condition characterized by onset in infancy of hyperpigmented regions composed of small light brown spots that coalesce with age and follow the lines of Blaschko on the trunk and limbs. The soles, palms, face, and mucous membranes are spared. The lesions are asymptomatic and progress with age; affected individuals have no accompanying extradermal features. There is no previous history of inflammation on affected areas (summary by {5:Kalter et al., 1988})." +614326,"Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by {6:Teszas et al., 2006}).\n\nFor a discussion of genetic heterogeneity of Feingold syndrome, see FGLDS1 ({164280})." +614327,"This tumor predisposition syndrome is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations are at high-risk for the development of a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma ({155720}), cutaneous melanoma ({155600}), malignant mesothelioma on exposure to asbestos ({156240}), and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma (summary by {4:Wiesner et al., 2011}, {3:Testa et al., 2011}, {1:Abdel-Rahman et al., 2011}, and {2:Popova et al., 2013})." +614332,"Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility to autism, schizophrenia (SCZD17), developmental delay, intellectual disability, and dysmorphic features. The phenotype is highly variable and shows incomplete penetrance (summary by {1:Dabell et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see {181500}." +614338,"Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernible pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity (summary by {4:Figarella et al., 1980})." +614350,"Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by {2:Castellsague et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 ({120435})." +614370,"Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis (PAP). PAP is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by {2:Greenhill and Kotton, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 ({265120})." +614371,"Dengue virus is a flavivirus belonging to the family Flaviviridae. Its principal vector is Aedes aegypti, a highly urbanized, daytime-biting mosquito that breeds in stored water. There are 4 antigenetically variant serotypes of dengue virus, DEN-1 to DEN-4, and type-specific immunity against one serotype cannot block infection with another serotype. Disease manifestations following dengue infection range from subclinical infection to severe and fatal disease, with age, gender, genotype, immunologic status, and flavivirus infection history of the host all influencing disease severity. Primary infection is mainly associated with dengue fever (DF). Symptoms of DF typically appear 4 to 7 days after the mosquito bite and include high fever, headache, retroocular pain, conjunctival changes, and facial flushing. Although primary dengue infections are mostly recovered, a secondary infection with a different serotype of the virus leads to the complex condition of dengue hemorrhagic fever (DHF) with plasma leakage and thrombocytopenia or a more fatal condition, dengue shock syndrome (DSS). High fever, hemorrhagic phenomenon, hepatomegaly, and circulatory failure are mainly associated with DHF. Hemorrhages in DHF are seen in skin, subcutaneous tissues, heart, liver, and gastrointestinal tract. An estimated 50 to 100 million illnesses due to dengue infection occur annually, including 250,000 to 500,000 cases of DHF and 24,000 deaths. About 2.5 billion people are estimated to be at risk, particularly those living in tropical and subtropical areas of Asia and Latin America (reviews by {2:Faheem et al. (2011)}, {13:Whitehorn and Simmons (2011)}, and {3:Guzman et al. (2010)})." +614372,"Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by {4:Degn et al., 2011}). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by {5:Garcia-Laorden et al., 2008}).\n\n<Subhead> Genetic Heterogeneity of Lectin Complement Activation Pathway Defects\n\nSee also LCAPD2 ({613791}), caused by variation in the MASP2 gene ({605102}) on chromosome 1p36, and LCAPD3 ({613860}), caused by variation in the FCN3 gene ({604973}) on chromosome 1p36." +614375,"For a phenotypic description and a discussion of genetic heterogeneity of abdominal aortic aneurysm, see AAA1 ({100070})." +614376,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {3:Huber and Cormier-Daire, 2012} and {5:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500})." +614378,"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by {1:Arts et al., 2011}).\n\nFor a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 ({218330})." +614381,"Hypomyelinating leukodystrophy-8 (HLD8) is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by {9:Tetreault et al., 2011}).\n\nSee also HLD7 ({607694}), which has similar features and is caused by mutation in the POLR3A gene ({614258}) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}." +614388,"Encephalopathy due to defective mitochondrial and peroxisomal fission-1 (EMPF1) is characterized by delayed psychomotor development and hypotonia that may lead to death in childhood. Many patients develop refractory seizures, consistent with an epileptic encephalopathy, and thereafter show neurologic decline. The age at onset, features, and severity are variable, and some patients may not have clinical evidence of mitochondrial or peroxisomal dysfunction (summary by {6:Sheffer et al., 2016}; {2:Fahrner et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Encephalopathy Due to Defective Mitochondrial And Peroxisomal Fission\n\nSee also EMPF2 ({617086}), caused by mutation in the MFF gene ({614785}) on chromosome 2q36." +614389,"Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks of gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by {10:Rai and Regan, 2006}).\n\nPregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for RPRGL include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by {13:Warren and Silver, 2008}).\n\n<Subhead> Genetic Heterogeneity of Recurrent Pregnancy Loss\n\nSusceptibility to RPRGL2 ({614390}) is conferred by mutation in the coagulation factor II gene ({176930}) on chromosome 11p11; RPRGL3 ({614391}) by mutation in the ANXA5 gene ({131230}) on chromosome 4q27; and RPRGL4 (see {270960}) by mutation in the SYCP3 gene ({604759}) on chromosome 12q23.\n\nGenetic variation in the conceptus itself that results in decreased viability of the embryo or fetus is discussed in the respective gene and/or phenotype entry (see, e.g., MTHFR, {607093.0004}; NLRP7, {609661}; hydatidiform mole, {231090})." +614390,"Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks of gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by {2:Rai and Regan, 2006}).\n\nPregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks' gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for recurrent pregnancy loss include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by {3:Warren and Silver, 2008})." +614391,"Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks of gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by {2:Rai and Regan, 2006}).\n\nPregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks' gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for recurrent pregnancy loss include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by {3:Warren and Silver, 2008})." +614395,"Transplantation of hematopoietic stem cells is a successful therapy for some tumors derived from bone marrow precursors, such as certain leukemias and lymphomas, and it can be used to cure some primary immunodeficiencies and inherited hematopoietic stem-cell diseases. One of the major complications of allogeneic bone marrow transplantation is graft-versus-host disease (GVHD), in which mature donor T cells that contaminate the allogeneic bone marrow recognize the tissues of the recipient as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease. GVHD is particularly virulent when there is a mismatch of a major major histocompatibility complex (MHC) class I or class II antigen. Most transplants are therefore undertaken only when the donor and recipient are HLA-matched sibs or, less frequently, when there is an HLA-matched unrelated donor. However, GVHD also occurs in the context of disparities between minor histocompatibility antigens, and immunosuppression must be used in every stem-cell transplant (summary by {3:Janeway et al., 2005}).\n\nAt the core of the immunogenetic basis for GVHD is the diversity of HLA, killer immunoglobulin-like receptors (KIRs; see {604936}), and cytokine genes. HLA class I molecules function as ligands for natural killer cell inhibitory KIRs, indicating that GVHD results from a complex interplay between innate and adaptive immune responses. Cytokines may modulate the intensity of tissue injury and inflammation in GVHD, and therefore cytokine polymorphisms in either patient or donor or both may explain individual risks of GVHD (review by {5:Petersdorf and Malkki, 2006})." +614399,"EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by {4:Logan et al., 2011} and {1:Boyden et al., 2012})." +614407,"The Zaki-Gleeson syndrome is an autosomal recessive neurodevelopmental disorder characterized by profound mental retardation, severe microcephaly, poor growth, cerebellar hypoplasia, and second-degree cardiac conduction defects ({1:Zaki et al., 2011})." +614409,"Autosomal recessive spastic paraplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging (summary by {2:Boukhris et al., 2010} and {5:Martin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +614414,"Autosomal recessive deafness-96 (DFNB96) is a form of nonsyndromic sensorineural severe to profound hearing impairment with prelingual onset (summary by {1:Ansar et al., 2011})." +614415,"Chilblain lupus is a rare cutaneous form of systemic lupus erythematosus (SLE; {152700}) characterized by tender, bluish-red swellings and nodules on the hands, feet, ears, and nose, with histologic changes of lupus. The phenotype is induced by cold, such that patients frequently report a worsening of lesions in the winter months (summary by {1:Ravenscroft et al., 2011}).\n\nFor a general description and a discussion of genetic heterogeneity of chilblain lupus, see CHBL1 ({610448})." +614418,"Familial febrile seizures-11 is an autosomal recessive seizure disorder characterized by early childhood onset of simple or complex seizures associated with fever. These seizures usually remit later in childhood with no neurologic sequelae (summary by {1:Salzmann et al., 2012}).\n\nFor a general description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 ({121210})." +614424,"Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by {1:Boycott et al., 2007} and {3:Huang et al., 2011}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}." +614429,"Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by {3,4:Wang et al., 2011, 2011}).\n\nOther congenital cardiac defects caused by mutation in the GATA4 gene include atrial septal defect (ASD2; {607941}), tetralogy of Fallot (see TOF, {187500}), and endocardial cushion defects (AVSD4; {614430}).\n\n<Subhead> Genetic Heterogeneity of Ventricular Septal Defect\n\nVSD2 ({614431}) is caused by mutation in the CITED2 gene ({602937}) on chromosome 6q24; VSD3 ({614432}) is caused by mutation in the NKX2-5 gene ({600584}) on chromosome 5q34.\n\nSomatic mutations in the HAND1 gene ({602406}) have been identified in tissue samples from patients with VSD." +614430,"The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by {2:Craig, 2006}).\n\nAVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome ({190685}), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome ({208530}) (summary by {1:Carmi et al., 1992}).\n\nFor a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 ({606215})." +614431,"Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14% to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by {2,3:Wang et al., 2011, 2011}).\n\nFor a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 ({614429})." +614432,"Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by {3,4:Wang et al., 2011, 2011}).\n\nOther congenital cardiac defects caused by mutation in the NKX2-5 gene include atrial septal defect with or without atrioventricular conduction defects (ASD7; {108900}), tetralogy of Fallot (see TOF, {187500}), conotruncal malformations (see {217095}), and hypoplastic left heart syndrome (HLHS2; {614435}).\n\nFor a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 ({614429})." +614434,"Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by {1:Markova et al., 2003}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 ({123700})." +614435,"Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged ({1:Brekke, 1953}).\n\nFor a discussion of genetic heterogeneity of hypoplastic left heart syndrome, see HLHS1 ({241550})." +614437,"Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by {4:Hoyer et al., 2009}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100})." +614438,"De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by {2:Lin et al., 2011}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}." +614441,"Autosomal recessive primary hypertrophic osteoarthropathy-2 (PHOAR2) is a rare disorder characterized by digital clubbing, pachydermia, and periostosis. Pain and swelling of ankles and knees, watery diarrhea, and excessive sweating are often present. Males are more frequently and severely affected (summary by {9:Zhang et al., 2013}, {6:Li et al., 2017}).\n\nFor a discussion of genetic heterogeneity of PHO, see PHOAR1 ({259100})." +614455,"Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, including distal muscle weakness and atrophy and distal sensory loss, and the features of FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy (summary by {2:Boyer et al., 2011}).\n\nIsolated focal segmental glomerulosclerosis-5 (FSGS5; {613237}) is also caused by heterozygous mutation in the INF2 gene.\n\nFor a discussion of genetic heterogeneity of CMTDI, see {606482}." +614456,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {2:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 ({155600})." +614457,"ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by {1:Aldahmesh et al., 2011})." +614458,"Episodic encephalopathy due to thiamine pyrophosphokinase deficiency is an autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits (summary by {1:Mayr et al., 2011}).\n\nFor a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 ({249270})." +614462,"Hyperglycinemia, lactic acidosis, and seizures is a severe autosomal recessive disorder characterized by onset of hypotonia and seizures associated with increased serum glycine and lactate in the first days of life. Affected individuals develop an encephalopathy or severely delayed psychomotor development, which may result in death in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including HGCLAS, appear to result from defects of mitochondrial lipoate biosynthesis (summary by {1:Baker et al., 2014})." +614464,"Joubert syndrome-15 is an autosomal recessive developmental disorder characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation. Other features, such as polydactyly, breathing abnormalities, and oculomotor apraxia, are variable (summary by {1:Lee et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}." +614465,"Joubert syndrome-16 is an autosomal recessive developmental disorder characterized by the molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement. The phenotype is indistinguishable from that of JBTS2 ({608091}) (summary by {1:Lee et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}." +614468,"Familial cold autoinflammatory syndrome-3 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by {2:Ombrello et al., 2012}).\n\nFor a discussion of genetic heterogeneity of FCAS, see FCAS1 ({120100})." +614470,"RAS-associated leukoproliferative disorder is characterized by lymphadenopathy, splenomegaly, and variable autoimmune phenomena, including autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura, and neutropenia. Laboratory studies show an expansion of lymphocytes due to defective apoptosis, as well as significant autoantibodies. Some patients have recurrent infections, and there may be an increased risk of hematologic malignancy (summary by {2:Oliveira, 2013} and {1:Niemela et al., 2010}).\n\nThe disorder shows significant overlap with autoimmune lymphoproliferative syndrome (ALPS; {601859}) and was originally designated ALPS IV." +614473,"Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by {5:Rutsch et al., 2003} and {1:Cheng et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GACI, see GACI1 ({208000}).\n\nPseudoxanthoma elasticum (PXE; {264800}) is an allelic disorder caused by mutation in the ABCC6 gene; it has been suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than 2 distinct disorders ({4:Nitschke et al., 2012})." +614474,"The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by {2:Craig, 2006}).\n\nAVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome ({190685}), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome ({208530}) (summary by {1:Carmi et al., 1992}).\n\nFor a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 ({606215})." +614480,"Transient infantile hypertriglyceridemia is an autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis. The long-term outcome of affected individuals is unclear (summary by {1:Basel-Vanagaite et al., 2012})." +614482,"Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination (summary by {2:Huppke et al., 2012})." +614483,"Brain small vessel disease-2 is an autosomal dominant disorder characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration. The disorder is often associated with 'porencephaly' on brain imaging. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by {2:Yoneda et al., 2012}).\n\nFor a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 ({175780})." +614485,"Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by {2:Vissers et al., 2011}).\n\nFor a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 ({190440}).\n\nA syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see {158170})." +614486,"The role of thrombomodulin in thrombosis is controversial. Although there have been several reports of THBD mutations in patients with venous thrombosis, clear functional evidence for the pathogenicity of these mutations is lacking. In a review, {1:Anastasiou et al. (2012)} noted that thrombomodulin has a major role in capillary beds and that THBD variation may not be associated with large vessel thrombosis. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis. However, variation in the THBD gene may be associated with increased risk for arterial thrombosis and myocardial infarction. This association may be attributed to the fact that thrombomodulin can modulate inflammatory processes, complement activity, and fibrinolysis." +614487,"Spastic ataxia-5 (SPAX5) is an autosomal recessive neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy (summary by {3:Pierson et al., 2011}).\n\nFor a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 ({108600})." +614493,"Wiskott-Aldrich syndrome-2 (WAS2) is an autosomal recessive immunologic disorder characterized by onset of recurrent infections in infancy. Other features include thrombocytopenia with normal platelet volume and eczema. Laboratory studies show decreased CD8+ T cells, variably increased Ig, particularly IgE, low B cells, aberrant function of T and NK cells, and impaired T-cell migration. The cellular abnormalities are thought to result from defective F-actin polymerization. Death in early childhood may occur; hematopoietic stem cell transplantation is curative (summary by {3:Lanzi et al., 2012}).\n\nFor a discussion of genetic heterogeneity of Wiskott-Aldrich syndrome, see WAS ({301000})." +614494,"For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +614495,"Familial hyperkalemic hypertension, also known as type II pseudohypoaldosteronism (PHAII) or Gordon syndrome, is a rare autosomal dominant disease in which a net positive sodium ion balance is associated with renal potassium ion retention, resulting in hypertension, hyperkalemia, and hyperchloremic metabolic acidosis (summary by {2:Louis-Dit-Picard et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Type II Pseudohypoaldosteronism\n\nFor a discussion of genetic heterogeneity of type II pseudohypoaldosteronism, see PHA2A ({145260})." +614498,"Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by {3:Saitsu et al., 2014})." +614499,"MRT34 is an autosomal recessive neurologic disorder characterized by mildly to moderately impaired intellectual development and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by {1:Di Donato et al., 2016})." +614500,"Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by {1:Estrada-Cuzcano et al., 2012})." +614501,"Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures (NEDHCS) is an autosomal recessive syndrome characterized primarily by hypotonia and poor feeding apparent in early infancy. Affected individuals have severe global developmental delay, early-onset intractable seizures, and recognizable craniofacial dysmorphism with skull abnormalities. The disorder is believed to be unique to the Amish population, where it exhibits a founder effect (summary by {1:Ammous et al., 2021})." +614504,"Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life ({1:Karjalainen et al., 1985}; {2:Pakarinen et al., 1995}).\n\nFor a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A ({276902})." +614507,"Congenital disorder of glycosylation type Ir (CDG1R) is an autosomal recessive disorder characterized by developmental delay, failure to thrive, feeding difficulties, hypotonia, and strabismus. Transferrin analysis demonstrates underglycosylation (summary by {2:Pi et al., 2022}).\n\nFor a discussion of the classification of CDGs, see CDG1A (212065)." +614508,"Mirror movements are involuntary movements of a side of the body that mirror intentional movements on the opposite side. Mild mirror movements are physiologic in young children and gradually disappear within the first decade of life, likely due to maturation of the motor network. Mirror movements that persist beyond age 10 years represent a rare disorder usually showing autosomal dominant inheritance with incomplete penetrance (summary by {1:Depienne et al., 2012}).\n\nFor a discussion of genetic heterogeneity of mirror movements, see MRMV1 ({157600})." +614514,"Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage ({7:Pung-amritt et al., 1999}; {3:Fischer et al., 2010}), whereas others have recurrent thromboses later in childhood ({2:Comp et al., 1984}).\n\nSee also autosomal dominant thrombophilia due to protein S deficiency (THPH5; {612336}), a less severe disorder caused by heterozygous mutation in the PROS1 gene." +614521,"Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by {6:Mead et al., 2012}).\n\nFor a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 ({187950})." +614524,"Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by {1:Tompson et al., 2012}).\n\nFor a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 ({228520})." +614541,"The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. The phenotypic features and deletion sizes are variable, but deletion of 16q22 appears to be critical for manifestations of the syndrome (summary by {3:Fujiwara et al., 1992})." +614546,"Highly active antiretroviral therapy (HAART) has reduced mortality associated with acquired immunodeficiency syndrome (AIDS; see {609423}) by at least 70%. Efavirenz is a non-nucleoside reverse transcriptase inhibitor that is frequently prescribed with 2 nucleoside reverse transcriptase inhibitors as initial therapy for human immunodeficiency virus (HIV) infection. However, during the first weeks of therapy, up to half of patients who receive efavirenz experience CNS side effects, including dizziness, insomnia, impaired concentration, somnolence, and abnormal dreams. Severe depression, aggressive behavior, and paranoid or manic reactions may also occur, and such side effects may reflect varying efavirenz plasma concentrations. Plasma clearance of efavirenz appears slower in African Americans than in European Americans, and studies have suggested earlier virologic failure on efavirenz for both African Americans and Hispanics compared with European Americans. Efavirenz is metabolized primarily by hepatic CYP2B6, with some involvement of CYP3A (CYP3A4; {124010}) (summary by {3:Haas et al., 2004})." +614557,"Ehlers-Danlos syndrome kyphoscoliotic type 2 is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine ({2:Baumann et al., 2012}).\n\nFor a discussion of genetic heterogeneity of the kyphoscoliotic type of EDS, see {225400}." +614558,"Developmental and epileptic encephalopathy-13 (DEE13) is a neurologic disorder characterized by the onset of intractable seizures in the first year of life. Some patients may present with seizures in the first days, whereas others present later (between 2 and 7 months of age) after normal or only mild developmental delay. Affected individuals have profoundly impaired development or developmental regression after the onset of seizures, and show severe intellectual disability, poor or absent language, hypotonia, and are usually unable to walk. EEG shows variable abnormalities, including multifocal and generalized spike-wave discharges, sometimes with status epilepticus or hypsarrhythmia. Brain imaging may show cerebral atrophy (summary by {4:Ohba et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +614559,"Infantile cerebellar-retinal degeneration (ICRD) is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration (summary by {7:Spiegel et al., 2012}). A subset of patients may have a milder phenotype with variable features, including ataxia, developmental delay, and behavioral abnormalities ({2:Blackburn et al., 2020})." +614561,"Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by {3:Labrune et al., 1996}).\n\nSee also cerebroretinal microangiopathy with calcifications and cysts (CRMCC; {612199}), an autosomal recessive disorder caused by mutation in the CTC1 gene ({613129}) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic ({1:Anderson et al., 2012}; {4:Polvi et al., 2012})." +614563,"MRD13 is an autosomal dominant intellectual developmental disorder associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by {6:Willemsen et al., 2012} and {3:Poirier et al., 2013})." +614564,"Patients with this syndrome develop cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well ({1:Tanaka et al., 2012})." +614565,"Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Individuals with cCSNB and animal models of the disorder have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells (summary by {3:Peachey et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A ({310500})." +614569,"Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma ({14:Schwartz et al., 1987}).\n\n<Subhead> Classification of the Enchondromatoses\n\nIn their classification of the enchondromatoses, {15:Spranger et al. (1978)} called Ollier disease ({166000}) and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis ({156250}), type III; and spondyloenchondrodysplasia ({607944}), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. {6:Halal and Azouz (1991)} added 3 tentative categories to the 6 in the classification of {15:Spranger et al. (1978)}.\n\n{11:Pansuriya et al. (2010)} suggested a new classification of enchondromatosis (multiple enchondromas)." +614575,"Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive adult-onset, slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy (summary by {4:Szmulewicz et al., 2011})." +614576,"CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by {3:Rymen et al., 2015}).\n\nFor a general discussion of CDGs, see CDG1A ({212065}) and CDG2A ({212066})." +614588,"Dystonia-21 (DYT21) is an autosomal dominant form of pure torsion dystonia, a movement disorder characterized by sustained muscle contractions causing twisting and repetitive movements and abnormal postures (summary by {2:Norgren et al., 2011})." +614590,"Podoconiosis, or endemic nonfilarial elephantiasis, is a noninfectious geochemical disease characterized by edema of the foot and lower leg that progresses to severe elephantiasis. It is a chronic and debilitating disorder that is a public health problem in at least 10 countries in tropical Africa, Central America, and northern India. Podoconiosis occurs among subsistence farmers and other occupational groups whose feet are exposed over many years to red clay soil derived from alkalic volcanic rock. However, podoconiosis develops only in a subgroup of exposed people, and studies have shown familial clustering with high heritability (summary by {1:Davey et al. (2007)} and {6:Tekola Ayele et al. (2012)})." +614594,"Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by {6:Lin et al., 2012}). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes ({8:Olmsted, 1927}).\n\n<Subhead> Genetic Heterogeneity of Olmsted Syndrome\n\nOLMS2 ({619208}) is caused by mutation in the PERP gene ({609301}) on chromosome 6q23.\n\nAn X-linked form of Olmsted syndrome (OLMSX; {300918}) is caused by mutation in the MBTPS2 gene ({300294}) on chromosome Xp22." +614595,"Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by {2:Payne et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia/eclampsia, see PEE1 ({189800})." +614602,"Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by {2:Fabre et al., 2012}).\n\nFor a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 ({222470})." +614607,"Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by {3:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900}).\n\nThe chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies." +614608,"Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by {2:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900})." +614609,"Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by {1:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900})." +614613,"Acrodysostosis-2 (ACRDYS2) is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by {5:Michot et al., 2012} and {2:Lee et al., 2012}).\n\nFor a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 ({101800})." +614614,"Autosomal dominant deafness-4B is a form of nonsyndromic progressive sensorineural hearing loss with postlingual onset (summary by {2:Wang et al., 2015})" +614616,"Diarrhea-6 is a relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis ({1:Fiskerstrand et al., 2012}).\n\nFor a discussion of genetic heterogeneity of diarrhea, see DIAR1 ({214700})." +614621,"UV-sensitive syndrome-2 (UVSS2) is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by {1:Nardo et al., 2009}).\n\nSee also Cockayne syndrome type A (CSA; {216400}), an allelic disorder with a more severe phenotype including neurologic symptoms and skeletal abnormalities.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 ({600630})." +614622,"Keratoconus is a noninflammatory progressive corneal thinning disorder resulting in mixed myopia and irregular astigmatism. Characteristic features include stromal thinning, Vogt striae, Fleisher ring, and scissoring of the retinoscopic reflex with a fully dilated pupil. Symptoms usually develop in the second decade and are likely to progress in the third decade, whereas progression slows after age 30 years. The progression of keratoconus may result in severe visual impairment and some affected individuals require cornea transplantation. The prevalence of keratoconus is about 1 in 2,000 in Caucasian populations, and is a leading cause for cornea transplantation in developed countries (summary by {2:Tang et al., 2005}).\n\nFor a discussion of genetic heterogeneity of keratoconus, see KTCN1 ({148300})." +614623,"Keratoconus is a clinical term used to describe a condition in which the cornea assumes a conical shape as a result of noninflammatory thinning and protrusion. Keratoconus is detected clinically by slit-lamp evaluation, which demonstrates stromal corneal thinning. Other clinical signs may include Vogt striae, iron ring, scarring, retroillumination signs such as the 'Charleaux oil droplet reflex,' and/or scissoring on retinoscopy; in subtle cases, the diagnosis may be confirmed by videokeratography. The estimated prevalence of keratoconus ranges from 50 to 230 per 100,000 in the general population, and approximately 6% to 23.5% of reported cases demonstrate familial transmission. Age of onset is at puberty and the disorder is progressive until the third or fourth decade of life, when it usually arrests. It is a major cause of cornea transplantation in developed countries (summary by {1:Li et al., 2006}).\n\nFor a discussion of genetic heterogeneity of keratoconus, see KTCN1 ({148300})." +614628,"Keratoconus is a noninflammatory disorder in which there is thinning and ectasia of the cornea. The estimated prevalence varies from 29 to 86 per 100,000, although the condition may be underreported. The onset of disease is typically after puberty, with subsequent progression at a variable rate over the following decades. Visual acuity is initially reduced by irregular corneal astigmatism but scarring can also develop (summary by {1:Liskova et al., 2010}).\n\nFor a discussion of genetic heterogeneity of keratoconus, see KTCN1 ({148300})." +614629,"Keratoconus (KTCN) is a noninflammatory thinning and consequent bulging of the cornea that results in distortion of the corneal surface, altered refractive powers of the eye (both axial and refractive), and reduced visual acuity. In more advanced cases, corneal scarring further reduces visual acuity. Symptoms are highly variable and depend on the stage of the progression of the disorder. The trait has an incidence of approximately 1 in 2,000 individuals and is the most common indication for corneal transplantation in the United States (summary by {2:Gajecka et al., 2009}).\n\nFor a discussion of genetic heterogeneity of keratoconus, see KTCN1 ({148300})." +614640,"UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by {4:Itoh et al., 1994} and {7:Nakazawa et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 ({600630})." +614643,"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {3:Roscioli et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670})." +614644,"For a discussion of the genetic heterogeneity of quantitative trait loci (QTL) for mean platelet volume (MPV)/platelet count (PLT), see MPVCQTL1 ({612573})." +614645,"For a discussion of the genetic heterogeneity of quantitative trait loci (QTL) for mean platelet volume (MPV)/platelet count (PLT), see MPVCQTL1 ({612573})." +614646,"For a discussion of the genetic heterogeneity of quantitative trait loci (QTL) for mean platelet volume (MPV)/platelet count (PLT), see MPVCQTL1 ({612573})." +614650,"Primary coenzyme Q10 deficiency-6 is an autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis (FSGS). Some patients may show a favorable response to oral coenzyme Q supplementation (summary by {1:Heeringa et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 ({607426}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278}) and NPHS1 ({256300})." +614653,"Hereditary sensory and autonomic neuropathy type VI (HSAN6) is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by {1:Edvardson et al., 2012}).\n\nFor a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 ({162400})." +614655,"Stuttering is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks (summary by {1:Raza et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of stuttering, see STUT1 ({184450})." +614662,"Cortisone reductase deficiency is a disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase, encoded by the HSD11B1 gene. Purified 11-beta-HSD acts readily as a dehydrogenase, inactivating cortisol to cortisone; however, in the presence of a high NADPH/NADP+ ratio, generated in vivo through the activity of microsomal hexose-6-phosphate dehydrogenase (H6PD; {138090}), 11-beta-HSD switches to ketoreductase activity and generates active glucocorticoid. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting later with hirsutism, oligomenorrhea, and infertility. Biochemically, CORTRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE), which in CORTRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by {1:Lawson et al., 2011}).\n\nFor a discussion of genetic heterogeneity of cortisone reductase deficiency, see CORTRD1 ({604931})." +614665,"Meconium ileus refers to intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium (summary by {1:Romi et al., 2012}). Meconium ileus is a known clinical manifestation of cystic fibrosis (CF; {219700}), and meconium ileus in the absence of CF is a rare phenomenon (summary by {2:Tal et al., 1985})." +614668,"Stuttering is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks (summary by {2:Raza et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of stuttering, see STUT1 ({184450})." +614669,"Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by {5:Rieder et al., 2012}).\n\nFor a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 ({602483})." +614670,"Peripartum cardiomyopathy (PPCM) is characterized by systolic heart failure presenting in the last month of pregnancy or the first 5 months postpartum. PPCM affects 1 in 300 to 1 in 3,000 pregnancies, with geographic hot spots of high incidence, such as Nigeria and Haiti. Although approximately half of affected women recover cardiac function postpartum, many patients progress to chronic heart failure, cardiac transplantation, or death. Data have suggested that antiangiogenic prolactin ({176760}) fragments may have an important role in causing the disease in some patients. Risk factors for PPCM also include preeclampsia (see {189800}) and multiple gestation, suggesting a potential mechanistic overlap with these processes (summary by {1:Patten et al., 2012})." +614674,"Women show menstrual cycle-dependent physiologic changes in relation to sex hormone levels. Because ovulation triggers a significant change in the hormonal milieu that is similar to local inflammation, a 0.5 to 1.0 degree Celsius increase in basal body temperature after ovulation is commonly associated with progesterone secretion and is believed to be triggered by the induction of several inflammatory cytokines. Rare menstrual cycle-dependent febrile episodes have been reported, some of which have shown a luteal-phase-dependent pattern (summary by {1:Jiang et al., 2012})." +614676,"Hypertrophic cardiomyopathy (CMH) is characterized by unexplained cardiac hypertrophy: thickening of the myocardial wall in the absence of any other identifiable cause for left ventricular hypertrophy such as systemic hypertension or valvular heart disease. Myocyte hypertrophy, disarray, and fibrosis are the histopathologic hallmarks of this disorder. Clinical features are diverse and include arrhythmias, sudden cardiac death, and heart failure. With an estimated prevalence of 1 in 500, CMH is the most common cardiovascular genetic disease and the most common cause of sudden death in competitive athletes in the United States (summary by {1:Song et al., 2006}).\n\nFor a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 ({192600})." +614678,"Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by {9:Wan et al., 2012}). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by {3:Halevy et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596})." +614679,"Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by {2:Panizzi et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +614687,"Alar clefts most commonly occur in association with cleft lip and/or other craniofacial anomalies. The basic embryonic mechanism in alar clefts involves failure of fusion between the medial and the lateral nasal processes during the sixth to tenth weeks. The medial process gives rise to one-half of the nasal septum and the medial crus of the lower lateral alar cartilage, and the lateral process gives rise to the external wall of the nose, nasal bones, upper lateral cartilage, alae, and lateral crus of the lower lateral cartilage. The dorsum and apex of the nose, which are derived from the frontonasal process, are usually well preserved in patients with isolated alar cleft (summary by {1:Richieri-Costa and Guion-Almeida, 2009})." +614688,"Pontine tegmental cap dysplasia (PTCD) refers to a neurologic condition characterized by a distinct pattern of hindbrain malformations apparent on brain imaging. The abnormalities affect the pons, medulla, and cerebellum. In neuroradiologic studies, the ventral side of the pons is flattened, whereas there is vaulting ('capping') of the dorsal pontine border into the fourth ventricle. Affected individuals show a variety of neurologic deficits, most commonly sensorineural deafness, impaired cranial nerve function, and variable psychomotor retardation (summary by {1:Barth et al., 2007})." +614692,"Membranous nephropathy, a major cause of the nephrotic syndrome in adults, is characterized by the presence of glomerular deposits that typically contain immunoglobulin and complement components. Two major antigens, both of which are membrane glycoproteins, have been identified in human membranous nephropathy. Neutral endopeptidase (MME; {120520}) is the alloantigen involved in membranous nephropathy in neonates whose mothers have a deficiency of this enzyme. The second is the M-type phospholipase A2 receptor (PLA2R1; {604939}), the first antigen identified in adults with idiopathic membranous nephropathy, which is generally considered to be an autoimmune disease. In addition, autoantibodies against aldose reductase (AKR1B1; {103880}), mitochondrial superoxide dismutase-2 (SOD2; {147460}), and THSD7A ({612249}) have been found in serum and glomeruli from patients with idiopathic membranous nephropathy. Familial occurrence has been noted by {4:Short et al. (1984)} and {1:Bockenhauer et al. (2008)} (summary by {5:Stanescu et al., 2011} and {6:Tomas et al., 2014})." +614700,"Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by {5:Lopez-Herrera et al., 2012} and {1:Alangari et al., 2012}). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells ({3:Charbonnier et al., 2015}).\n\nFor a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 ({607594})." +614702,"COXPD10 is an autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases (summary by {2:Ghezzi et al., 2012}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +614706,"Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by {2:Smith et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730})." +614707,"Brown-Vialetto-Van Laere syndrome-2 is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Some patients may lose independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation (summary by {5:Johnson et al., 2012}; {2:Foley et al., 2014}).\n\nFor discussion of genetic heterogeneity of Brown-Vialetto-Van Laere syndrome, see BVVLS1 ({211530})." +614714,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({2:Schamroth et al., 1997}). However, as noted by {3:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the MVD gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), solar facial porokeratosis, linear porokeratosis, and hyperkeratotic porokeratosis.\n\nThe preferred title of this entry was formerly 'Porokeratosis 7, Disseminated Superficial Actinic Type; POROK7.'\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}." +614723,"APRT deficiency is an autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the kidney, which results in crystalluria and the formation of urinary stones. Clinical features include renal colic, hematuria, urinary tract infection, dysuria, and, in some cases, renal failure. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic (summary by {37:Sahota et al., 2001}).\n\nTwo types of APRT deficiency have been described based on the level of residual enzyme activity in in vitro studies of erythrocytes. Type I deficiency is characterized by complete enzyme deficiency in intact cells and in cell lysates, whereas type II deficiency is characterized by complete enzyme deficiency in intact cells, but only a partial deficiency in cell lysates. Type II alleles show reduced affinity for phosphoribosyl pyrophosphate (PRPP) compared to wildtype. In both types, APRT activity is not functional in vivo. Type II deficiency is most common among Japanese. Heterozygotes of either type do not appear to have any clinical or biochemical abnormalities (summary by {37:Sahota et al., 2001})." +614727,"CDG2K is an autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Serum transferrin analysis shows a CDG type II pattern (summary by {1:Foulquier et al., 2012}).\n\nFor a general discussion of CDGs, see CDG1A ({212065}) and CDG2A ({212066})." +614732,"IMAGE is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and steroid replacement therapy commenced. Other reported features in this condition include hypercalciuria and/or hypocalcemia, craniosynostosis, cleft palate, and scoliosis (summary by {2:Balasubramanian et al., 2010}).\n\nA recessive form of IMAGE with immunodeficiency (IMAGEI; {618336}) is caused by mutation in the POLE gene ({174762}) on chromosome 12q24." +614736,"Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by {3:Meimaridou et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200})." +614739,"MEGDEL is an autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome ({256000}). Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells (summary by {6:Wortmann et al., 2012}). About 50% of patients develop severe, but transient, liver dysfunction and/or signs of liver failure, in the neonatal period or during the first year of life, prompting some authors to suggest the name 'MEGDHEL' syndrome, with the 'H' referring to 'hepatopathy' (summary by {1:Maas et al., 2017}). Some patients may have a milder presentation with juvenile-onset spasticity and mild cognitive impairment, indicating a broader phenotypic spectrum ({2:Roeben et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I ({250950})." +614741,"Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by {1:Bricker et al., 2012})." +614742,"Shortened telomeres can cause a wide variety of clinical features that constitute a phenotypic spectrum. The most severe form is dyskeratosis congenita (see, e.g., {127550}), characterized by early childhood onset of skin abnormalities, bone marrow failure, predisposition to malignancy, and risk of pulmonary and hepatic fibrosis. Adult-onset pulmonary fibrosis is the most common manifestation of mutant telomerase genes. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Phenotype, age at onset, and severity are determined by telomere length, not just telomerase mutation (summary by {4:Armanios, 2009}).\n\nThe genetic diagnosis of telomere-related bone marrow failure and pulmonary fibrosis has implications for treatment because affected individuals generally do not respond to immunosuppression and may be at increased risk for fatal complications after bone marrow or lung transplantation ({8:Parry et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Telomere-Related Pulmonary Fibrosis and/or Bone Marrow Failure\n\nAlso see PFBMFT2 ({614743}), caused by mutation in the TERC gene ({602322}) on chromosome 3q26; PFBMFT3 ({616373}), caused by mutation in the RTEL1 gene ({608833}) on chromosome 20q13; PFBMFT4 ({616371}), caused by mutation in the PARN gene ({604212}) on chromosome 16p13; PFBMFT5 ({618674}), caused by mutation in the ZCCHC8 gene ({616381}) on chromosome 12q24; and PFBMFT6 ({619767}), caused by mutation in the RPA1 gene ({179835}) on chromosome 17p13." +614744,"HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by {4:Vogel et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}." +614748,"Junctional epidermolysis bullosa-7 with interstitial lung disease and nephrotic syndrome (JEB7), also known as ILNEB, is an autosomal recessive multiorgan disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease (summary by {1:Has et al., 2012})." +614749,"Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by {1:Krawitz et al., 2012}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of hyperphosphatasia with mental retardation syndrome, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +614750,"Congenital myasthenic syndrome-13 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by {1:Belaya et al., 2012}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +614751,"Distal hereditary motor neuronopathy type VB is an autosomal dominant neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by {1:Beetz et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1; {182960})." +614753,"Malan syndrome (MALNS) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behavior anomalies are present (summary by {3:Martinez et al., 2015})." +614756,"Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA) is an autosomal dominant neurologic disorder with significant phenotypic heterogeneity, even within families. The disorder is most often diagnosed through genetic analysis with retrospective clinical phenotyping. Symptom onset is usually in early childhood, although later onset, even in adulthood, has been reported. Most affected individuals show global developmental delay from early childhood, particularly of motor and language skills. Many have mild intellectual disability; behavioral and psychiatric abnormalities such as autism and obsessive-compulsive disorder are also often observed. The movement disorder is prominent and may include cerebellar signs such as ataxia, tremor, dysmetria, poor coordination, and dysarthria. Other abnormal movements including spasticity, myoclonus, and dystonia have been reported, thus widening the phenotypic spectrum. Brain imaging is usually normal, but may show cerebellar atrophy or nonspecific white matter lesions. Variable dysmorphic facial features may also be present (summary by {5:Thevenon et al., 2012}; {3:Jacobs et al., 2021}; {6:Wijnen et al., 2020})." +614779,"Visceral heterotaxy-6 (HTX6) is characterized by dextrocardia with or without accompanying complex cardiovascular defects, as well as variable manifestations of visceral heterotaxy, including situs inversus totalis ({3:Perles et al., 2012})." +614800,"Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, {1:Maksimova et al. (2010)} ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence." +614809,"C3 glomerulopathy-3 (C3G3) is an autosomal dominant kidney disease characterized by the onset of microscopic or macroscopic hematuria in the first 3 decades of life, followed by variable progression of renal disease. After age 30, about half of patients continue to have episodic hematuria while maintaining normal renal function, whereas the other half develop proteinuria and progressive renal failure or end-stage renal disease. In some cases, renal dysfunction may be triggered or exacerbated by an infectious disease, often an upper respiratory infection or pharyngitis. Some patients may also develop hypertension. Renal biopsy shows glomerular C3 deposition and mesangial proliferation with glomerulonephritis. Membranoproliferative glomerulonephritis (MPGN) may also be observed on renal biopsy. Males tend to have a more severe phenotype than females and are more likely to develop end-stage renal disease, often necessitating dialysis or renal transplant (summary by {1:Athanasiou et al., 2011}).\n\nFor a general description and discussion of genetic heterogeneity of C3G, see C3G1 ({609814})." +614810,"Multiple sclerosis-5 (MS5) is a chronic inflammatory disease of the central nervous system characterized by damage to axonal myelin sheaths and axons, commonly resulting in progressive neurologic disability beginning in early adulthood (summary by {3:Xu et al., 2001}).\n\nFor a discussion of genetic heterogeneity of multiple sclerosis (MS), see MS1 ({126200})." +614813,"SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by {1:Sarig et al., 2012})." +614814,"{1:Hassed et al. (2012)} described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300})." +614817,"Karyomegalic tubulointerstitial nephritis (KMIN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei (summary by {1:Baba et al., 2006})." +614819,"Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities ({1:Faivre et al., 2002}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}." +614820,"Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by {2:Heinzen et al., 2012}).\n\nFor a discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 ({104290})." +614822,"Spermatogenic failure-10 is associated with a defective annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The firm attachment of the annulus to the flagellar membrane suggests that it may supply mechanical support and prevent displacement of the caudal mitochondrial helix (summary by {1:Kuo et al., 2012}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +614823,"Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta ({3:Tan et al., 2012}; {1:Luyckx et al., 2019}; {2:Park et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 ({109730})." +614826,"Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' ({3:Tarpey et al., 2006}; {2:Shiels et al., 2007}).\n\nFor a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 ({310700})." +614830,"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by {1:Manzini et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670})." +614831,"Autosomal recessive spinocerebellar ataxia-13 (SCAR13) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development beginning in infancy. Affected individuals show mildly to profoundly impaired intellectual development with poor or absent speech as well as gait and stance ataxia and hyperreflexia. Most individuals also have eye movement abnormalities. Brain MRI shows cerebellar atrophy and ventriculomegaly ({5:Guergueltcheva et al., 2012})." +614834,"For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to thyrotoxic periodic paralysis, see {188580}." +614836,"Human herpesvirus-8 (HHV-8) is the etiologic agent of Kaposi sarcoma, primary effusion lymphoma, and some forms of multicentric Castleman disease ({1:Pedergnana et al., 2012}). See {148000} for general phenotypic information on these diseases, as well as information on HHV-8-associated pathogenesis." +614837,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {6:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}." +614838,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {3:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}." +614839,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}." +614840,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}." +614841,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {10:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}." +614842,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {1:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}." +614852,"Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance ({5:Woods et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200})." +614856,"Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {6:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}). {4:Martinez-Glez et al. (2012)} described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity." +614857,"Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; {609058}) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; {156570}). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF; {277380}) (summary by {1:Coelho et al., 2012})." +614858,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {3:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}." +614859,"The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {5:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}." +614861,"This form of autosomal recessive nonsyndromic deafness is sensorineural and shows prelingual onset ({1:Delmaghani et al., 2012})." +614862,"The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {2:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see {214100}." +614863,"Peroxisome biogenesis disorder-4B (PBD4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {5:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see {214100}." +614866,"The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {4:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}." +614867,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {6:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}." +614868,"STK4 deficiency results in a primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect ({1:Abdollahpour et al., 2012}; {2:Nehme et al., 2012})." +614869,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({2:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900})." +614870,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {4:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 7 (CG7, equivalent to CGB) have mutations in the PEX10 gene. For information on the history of PBD complementation groups, see {214100}." +614871,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by {5:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see {214100}." +614872,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}." +614873,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {3:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see {214100}." +614874,"Primary ciliary dyskinesia-18 is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by {1:Horani et al., 2012})." +614876,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see {214100}." +614877,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {3:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see {214100}." +614878,"Autoinflammation, antibody deficiency, and immune dysregulation (APLAID) is an autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies (summary by {4:Zhou et al., 2012})." +614879,"While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1; {215100}), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia ({2:Braverman et al., 2002}). In some cases this phenotype was indistinguishable from that of classic Refsum disease ({266500}) and patients carried this diagnosis.\n\nIndividuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}." +614880,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of the genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}." +614881,"DSMA5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired (summary by {1:Blumen et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal SMA, see HMN1 ({182960})." +614882,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}." +614883,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}." +614885,"The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {4:Waterham and Ebberink, 2012}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.\n\nIndividuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see {214100}." +614886,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {4:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}." +614887,"Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by {3:Steinberg et al., 2006}).\n\nFor a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.\n\nIndividuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}." +614889,"IMD28 is caused by autosomal recessive (AR) IFNGR2 deficiency, a rare molecular cause of susceptibility to mycobacterial disease. The clinical presentation of complete AR IFNGR2 deficiency resembles that of complete IFNGR1 deficiency (IMD27A; {209950}). The disease manifests early in life, with severe, often fatal, infection. The most commonly encountered pathogens include M. bovis bacillus Calmette-Guerin (BCG), M. avium, and M. fortuitum. Complete AR IFNGR2 deficiency is characterized by an undetectable cellular response to interferon-gamma (IFNG; {147570}). There is also a rare partial form of AR IFNGR2 deficiency, reported in 1 child, who retained a residual cellular response to IFNG and presented with a relatively mild infection by M. bovis BCG and M. abscessus (review by {1:Al-Muhsen and Casanova, 2008})." +614890,"IMD29 results from autosomal recessive IL12B deficiency and is characterized by undetectable IL12B secretion from leukocytes. IL12B-deficient patients generally present with bacillus Calmette-Guerin (BCG) disease after vaccination in childhood, and at least half also have Salmonella infection. Infections with Mycobacterium tuberculosis and environmental mycobacteria have also been reported in IL12B-deficient patients. The phenotype is relatively mild, and patients have a good prognosis (review by {1:Al-Muhsen and Casanova, 2008})." +614891,"IMD30 results from autosomal recessive IL12RB1 deficiency and is the most common form of susceptibility to mycobacterial disease. Activated T and natural killer lymphocytes from IMD30 patients do not express IL12RB1 on their surface or, more rarely, express nonfunctional IL12RB1 on their surface. IMD30 patients therefore lack responses to IL12 (see {161560}) and IL23 (see {605580}). The clinical presentation of IL12RB1-deficient patients is similar to that of IL12B-deficient patients (see IMD29, {614890}). Bacillus Calmette-Guerin (BCG) disease and salmonellosis are the most frequent infections. Salmonellosis is present in about half of IL12RB1-deficient patients, and significant numbers of patients present with isolated salmonellosis. Severe tuberculosis has been reported in several unrelated patients, and other infections have been reported in single patients. IMD30 has low penetrance, and patients have relatively mild disease and good prognosis (review by {1:Al-Muhsen and Casanova, 2008})." +614892,"IMD31A results from autosomal dominant (AD) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA ({147660})/IFNB ({147640}) (type I interferon) and IFNG ({147570}) (type III interferon). AD STAT1 deficiency selectively affects the IFNG pathway, but not the IFNA/IFNB pathway, and confers a predisposition to mycobacterial infections. Pathogens reported in IMD31A patients include bacillus Calmette-Guerin (BCG) and Mycobacterium avium complex, as well as Mycobacterium tuberculosis. IMD31A has low penetrance and a mild clinical phenotype with good prognosis for recovery (review by {1:Al-Muhsen and Casanova, 2008}).\n\nTwo patients with heterozygous STAT1 mutations have been reported with increased susceptibility to adult-onset herpes simplex encephalitis (HSE) without a history of other significant infections ({3:Mork et al., 2015})." +614893,"Autosomal dominant IRF8 deficiency, or IMD32A, causes an abnormal peripheral blood myeloid phenotype with a marked loss of CD11C (ITGAX; {151510})-positive/CD1C ({188340})-positive dendritic cells, resulting in selective susceptibility to mycobacterial infections ({2:Hambleton et al., 2011})." +614895,"Charcot-Marie-Tooth disease type 4F is an autosomal recessive demyelinating neuropathy characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. Nerve conduction velocities are decreased and sural nerve biopsy shows loss of myelinated fibers. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome (DSS; {145900}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A ({214400})." +614896,"Patients with sinoatrial node dysfunction and deafness have congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia ({1:Baig et al., 2011}).\n\nSee Jervell and Lange-Nielsen syndrome ({220400}) for discussion of another deafness syndrome with impaired cardiac conduction." +614897,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {3:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}." +614898,"SPG53 is an autosomal recessive neurologic disorder characterized by onset in infancy of delayed motor development progressing to upper and lower limb spasticity with impaired walking. Affected individuals also show mild to moderate cognitive impairment (summary by {1:Zivony-Elboum et al., 2012})." +614899,"Autosomal recessive deafness-93 is characterized by moderate to severe prelingual deafness and a distinctive U-shaped audiogram ({2:Tabatabaiefar et al., 2011})." +614900,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {6:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650})." +614920,"PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy ({1:Ebberink et al., 2012}), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., {2:Kelley et al., 1986}; {4:Poll-The et al., 1987}). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.\n\n{5:Thoms and Gartner (2012)} classified the disorder described by {1:Ebberink et al. (2012)} in their patient as a mild 'Zellweger syndrome ({214100}) spectrum' (ZSS) disorder. See PBD1B ({601539}) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B ({614879}) for another atypical peroxisome biogenesis disorder." +614921,"Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by {3:Tegtmeyer et al., 2014}).\n\nFor a discussion of the classification of CDGs, see CDG1A ({212065})." +614922,"COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by {2:Garcia-Diaz et al., 2012}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +614924,"COXPD12 is an autosomal recessive mitochondrial neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability (summary by {1:Steenweg et al., 2012}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +614926,"Perrault syndrome-2 is an autosomal recessive disorder characterized by sensorineural deafness in both males and females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile (summary by {2:Pierce et al., 2011}).\n\nFor a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 ({233400})." +614927,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations." +614928,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations." +614929,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations." +614931,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nEctodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by {2:Lin et al., 2012})." +614932,"Combined oxidative phosphorylation deficiency-13 is an autosomal recessive multisystem disorder resulting from mitochondrial dysfunction. Affected individuals develop severe neurologic impairment in the first months of life, including hypotonia, abnormal dystonic movements, hearing loss, poor feeding, global developmental delay, and abnormal eye movements. Brain imaging shows signal abnormalities in putamen, basal ganglia, caudate nuclei, or corpus callosum, as well as delayed myelination. Analysis of patient tissues shows multiple defects in enzymatic activities of the mitochondrial respiratory chain, although some tissues may show normal values since tissue expression of the mitochondrial defect and metabolic needs of specific tissues are variable (summary by {4:Vedrenne et al., 2012})." +614935,"Primary ciliary dyskinesia-19 is an autosomal recessive ciliopathy characterized by chronic sinopulmonary infections, asthenospermia, and immotile cilia. Respiratory epithelial cells and sperm flagella of affected individuals lack both the inner and outer dynein arms. About 50% of patients have situs inversus (summary by {1:Kott et al., 2012}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}." +614936,"For a general phenotypic description and a discussion of genetic heterogeneity of the punctate type of palmoplantar keratoderma, see PPKP1A ({148600})." +614937,"Familial myoclonus-1 is an autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness (summary by {1:Russell et al., 2012}).\n\n<Subhead> Genetic Heterogeneity of Familial Myoclonus\n\nAlso see MYOCL2 ({618364}), caused by mutation in the SCN8A gene ({600702}) on chromosome 12q13." +614940,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {3:Cluzeau et al., 2011})." +614941,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {3:Cluzeau et al., 2011})." +614946,"COXPD14 is a severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes. Neuropathologic studies in 1 patient showed laminar cortical necrosis, characteristic of Alpers syndrome ({203700}) (summary by {2:Elo et al., 2012}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +614954,"Multiple types of congenital heart defects-3 (CHTD3) is an autosomal dominant condition characterized by various types of congenital heart defects and low atrial rhythm ({1:van de Meerakker et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple types of congenital heart defects, see {306955}." +614959,"Developmental and epileptic encephalopathy-14 (DEE14) is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by {1:Barcia et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +614961,"Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum (summary by {1:Mochida et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596})." +614962,"Leptin deficiency is characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction ({25:Ozata et al., 1999})." +614963,"Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (summary by {2:Dehghani et al., 2018})." +614969,"Pontocerebellar hypoplasia type 7 is a severe neurologic condition characterized by delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities (summary by {1:Anderson et al., 2011}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596})." +614972,"Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Women with ICP are also susceptible to oral contraceptive-induced cholestasis (OCIC). Ursodeoxycholic acid (UDCA) is an effective treatment for conditions caused by ABCB4 mutations (summary by {5:Pasmant et al., 2012}).\n\nMutation in the ABCB4 gene accounts for about 15% of ICP cases (summary by {7:Ziol et al., 2008}).\n\nFor a discussion of genetic heterogeneity of ICP, see ICP1 ({147480})." +614973,"The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD2 is an autosomal dominant disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin. FFDD3 ({227260}) is characterized by the same facial features as FFDD2, but the inheritance is autosomal recessive (summary by {8:Slavotinek et al., 2013}).\n\nFor a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 ({136500})." +614974,"The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD4 is characterized by isolated, preauricular skin lesions (summary by {4:Slavotinek et al., 2013}).\n\nFor a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 ({136500})." +614976,"Carpenter syndrome-2 (CRPT2) is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by {2:Twigg et al., 2012}).\n\nFor a discussion of genetic heterogeneity of Carpenter syndrome, see {201000}." +614979,"Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (ROSAH) is an autosomal dominant disorder in which affected individuals present in childhood with reduced vision associated with papilledema and low-grade ocular inflammation. Progressive deterioration of visual acuity results in counting fingers to no light perception by the third decade of life. Patients also show anhidrosis, as well as splenomegaly and mild pancytopenia, and most experience headaches that may be migraine-like in nature ({2:Williams et al., 2019})." +614980,"Multiple types of congenital heart defects-2 (CHTD2) is characterized by variable congenital heart defects, primarily involving the valves, but also including septal defects or aneurysms, and complex defects such as tetralogy of Fallot. Dilated cardiomyopathy and myocardial noncompaction have been reported in some patients. In addition, some affected individuals exhibit facial dysmorphism and features of connective tissue disease ({5:Thienpont et al., 2010}; {1:Ackerman et al., 2016}; {4:Ritelli et al., 2018}).\n\nFor a discussion of genetic heterogeneity of CHTD, see {306955}." +614990,"Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II ({276901}) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function ({2:Moller et al., 1989}). Patients with type III (USH3; {276902}) have progressive hearing loss.\n\nFor a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 ({276900})." +615005,"Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by {2:Heron et al., 2012}).\n\nFor a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 ({600513})." +615007,"Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by {1:Nicolas et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600})." +615008,"Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. Some patients may benefit from immunosuppressive therapy (summary by {2:Ozaltin et al., 2013}).\n\nAtypical hemolytic uremic syndrome-7 is characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system (summary by {1:Lemaire et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 ({235400})." +615009,"Schuurs-Hoeijmakers syndrome (SHMS) is characterized by impaired intellectual development, distinct craniofacial features, and variable additional congenital abnormalities (summary by {4:Schuurs-Hoeijmakers et al., 2016})." +615018,"The Sid (Sd(a)) antigen is present on red blood cells of most individuals, but shows considerable variability in the strength of expression. About 96% of Caucasian individuals are Sd(a+), with the antigen strength forming a continuous curve ranging from ordinary (Sd(a+)) to strong (Sd(a++)); the strongest antigen expression is also known as 'Cad.' Most people also have weak anti-Sd(a) antibodies in their serum, which is usually of no clinical importance, but can be a problem if they are transfused with cells showing strong Sd(a++), or Cad, expression; this could result in red cell agglutination and a transfusion reaction (summary by {2:Bird and Wingham, 1976}).\n\nPolyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by {1:Beck, 2000})." +615022,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {4:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({8:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {3:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300})." +615023,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {5:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({7:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {4:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {6:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300})." +615024,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {7:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({2:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({10:Oji et al., 2010}).\n\nNCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by {6:Fischer et al., 2000}). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by {9:Lefevre et al., 2006}).\n\nIn later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {4:Eckl et al., 2005}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300})." +615028,"Autosomal recessive localized or generalized intermediate epidermolysis bullosa simplex-4 (EBS4) is a rare disorder characterized by mild skin fragility with onset at birth or in early childhood, associated with acral blistering with hemorrhagic crusts. Skin fragility improves with age in most patients, although mottled pigmentation may later develop on the trunk and proximal limbs. Histology shows intrabasal cleavage ({4:Malchin et al., 2016}; {8:Turcan et al., 2016}; {1:Diociaiuti et al., 2020}).\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760})." +615030,"Spastic paraplegia-56 with or without pseudoxanthoma elasticum (SPG56) is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by {4:Tesson et al., 2012}). Some patients also have pseudoxanthoma elasticum ({1:Legrand et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}." +615031,"Hereditary sensory and autonomic neuropathy type IX with developmental delay (HSAN9) is an autosomal recessive neurodevelopmental and neurodegenerative disorder. Clinical features include global developmental delay and intellectual disability, axial and appendicular hypotonia, dysarthria, and an abnormal gait that is often described as ataxic. Other features may include peripheral neuropathy, hyporeflexia, and autonomic dysfunction (summary by {3:Neuser et al., 2021}).\n\nFor a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 ({162400})." +615032,"Intellectual developmental disorder with autism and macrocephaly (IDDAM) is characterized by impaired intellectual development, a highly penetrant autism spectrum phenotype, and macrocephaly. Other common features include tall stature, gastrointestinal symptoms, distinct facial features, sleep problems, and attention problems (summary by {1:An et al., 2020})." +615033,"Spastic paraplegia-54 is a complicated form of spastic paraplegia, a neurodegenerative disorder affecting fibers of the corticospinal tract. Affected individuals have delayed psychomotor development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak (summary by {4:Schuurs-Hoeijmakers et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}." +615034,"Dystonia-24 is an autosomal dominant form of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs (summary by {1:Charlesworth et al., 2012})." +615040,"Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by {1:Kremeyer et al., 2010}).\n\n<Subhead> Genetic Heterogeneity of Familial Episodic Pain Syndrome\n\nSee also FEPS2 ({615551}), caused by mutation in the SCN10A gene ({604427}) on chromosome 3p22, and FEPS3 ({615552}), caused by mutation in the SCN11A gene ({604385}) on chromosome 3p22." +615041,"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {2:Vuillaumier-Barrot et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670})." +615043,"Spastic paraplegia-43 (SPG43) is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive spasticity affecting the lower and upper limbs (summary by {2:Meilleur et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}." +615048,"The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by {1:Jokela et al., 2011})." +615065,"This autosomal recessive form of distal arthrogryposis, designated DA5D by {2:McMillin et al. (2013)}, is characterized by severe camptodactyly of the hands, including adducted thumbs and wrists; mild camptodactyly of the toes; clubfoot and/or a calcaneovalgus deformity; extension contractures of the knee; unilateral ptosis or ptosis that is more severe on one side; a round-shaped face; arched eyebrows; a bulbous, upturned nose; and micrognathia. Notably, these patients do not have ophthalmoplegia.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A ({108120}).\n\nFor discussion of genetic heterogeneity of distal arthrogryposis type 5, see DA5 ({108145})." +615066,"Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {2:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}).\n\n{1:Shaheen et al. (2012)} described osteogenesis imperfecta type XIV (OI14), an autosomal recessive form of the disorder characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years." +615067,"CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile.\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}." +615071,"Alazami syndrome is an autosomal recessive disorder characterized by severe growth restriction present at birth, severely impaired intellectual development, and distinctive facial features. Some patients have been reported with skeletal and behavioral features (summary by {2:Imbert-Bouteille et al., 2019})." +615073,"Dystonia-25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs (summary by {2:Fuchs et al., 2013})." +615074,"GAND syndrome is a neurodevelopmental syndrome characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development. Most patients have poor speech acquisition, especially expressive language development, and may manifest signs of speech apraxia. Affected individuals have hypotonia and feeding difficulties in infancy, as well as common dysmorphic features, such as macrocephaly, frontal bossing, hypertelorism, deep-set eyes, posteriorly rotated ears, and elongated wide nose with prominent nasal tip. More variable features may include seizures, cardiac abnormalities, and nonspecific findings on brain imaging (summary by {5:Shieh et al., 2020})." +615075,"Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is characterized by global developmental delay, impaired intellectual development, axial hypotonia, and dysmorphic craniofacial features with microcephaly. Many patients have visual abnormalities, ranging from strabismus to optic nerve atrophy and retinal abnormalities. Affected individuals also develop spasticity, particularly of the lower limbs, and may have behavioral abnormalities (summary by {4:Kuechler et al., 2015} and {3:Kharbanda et al., 2017})." +615080,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}." +615083,"Colorectal cancer-12 (CRCS12) is an autosomal dominant disorder characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset usually occurs before age 40 years. The histologic features of the tumors may be unremarkable ({3:Palles et al., 2013}) or show microsatellite instability (MSI) ({2:Elsayed et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see {114500}." +615084,"Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities (summary by {1:Kornblum et al., 2013}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 ({603041})." +615095,"Primary microcephaly-10 (MCPH10) is an autosomal recessive disorder characterized by extremely small head size (-9 SD) at birth and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation (summary by {3:Yang et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200})." +615112,"Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by {1:Stuart et al., 2013}).\n\nFor a discussion of genetic heterogeneity of UFS, see UFS1 ({236730})." +615119,"Mitochondrial complex IV deficiency nuclear type 6 (MC4DN6) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Manifestations include hypotonia, feeding difficulties, and global developmental delay. Many, but not all, patients develop hypertrophic cardiomyopathy, which may result in early death. Additional more variable features may include poor overall growth, microcephaly, seizures, neurodegeneration, spasticity, visual defects, retinopathy, and hepatic steatosis. Brain imaging in some patients shows features consistent with Leigh syndrome (see {256000}). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by {4:Kennaway et al., 1990} and {5:Oquendo et al., 2004}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +615120,"Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by {3:Maselli et al., 2012}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +615122,"Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by {3:van Montfrans et al., 2012}). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by {1:Salzer et al., 2013}).\n\nFor a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 ({308240})." +615134,"Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by {1:Habif, 2010}).\n\nFor a discussion of genetic heterogeneity of malignant melanoma, see {155600}." +615135,"The mild variant of MSUD is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes; however, plasma levels of BCAA may remain elevated (summary by {2:Oyarzabal et al., 2013}).\n\nFor a general description and a discussion of genetic heterogeneity of maple syrup urine disease, see {248600}." +615139,"FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature (summary by {1:Pachlopnik Schmid et al., 2012})." +615145,"MCOPCB9 is characterized by isolated microphthalmia and coloboma ({1:Aldahmesh et al., 2012}). MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis ({2:Chassaing et al., 2016}; {4:Stephen et al., 2018}; {3:Singh et al., 2019})." +615155,"Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by {2:Flynn et al., 2010})." +615156,"PEOA6 is characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA (mtDNA) deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression (summary by {1:Ronchi et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640})." +615157,"Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by {2:Ghezzi et al., 2011}). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances ({3:Morino et al., 2014}; {1:Atwal, 2014}; {4:Nogueira et al., 2013}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 ({124000})." +615163,"For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see {120970}." +615174,"In most vertebrates, including pigs and mice, 2 major L-threonine degradation pathways exist. Tdh catalyzes the first step in 1 of these pathways, wherein L-threonine is converted to glycine and acetyl-CoA. However, in humans, TDH is an expressed pseudogene that produces nonfunctional proteins ({2:Edgar, 2002})." +615181,"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {2:Stevens et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670})." +615182,"Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by {3:Muntau et al., 2000}).\n\nSee also isolated L-2-hydroxyglutaric aciduria ({236792}) and isolated D-2-hydroxyglutaric aciduria (see {600721})." +615185,"CMTDIF is an autosomal dominant neurologic disorder characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range (summary by {2:Soong et al., 2013}).\n\nFor a discussion of genetic heterogeneity of CMTDI, see {606482}." +615188,"Mutations in the CRYGB gene have been found to cause multiple types of cataract, which have been described as lamellar, anterior polar, and complete." +615190,"Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by {5:Walne et al., 2013}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550})." +615191,"Lissencephaly-5 (LIS5) is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development ({1:Radmanesh et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 ({607432})." +615193,"Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by {1:Kunishima et al., 2013})." +615197,"Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation ({1:Bonati et al., 2003}).\n\nFor additional information and a discussion of heterogeneity of restless legs syndrome, see RLS1 ({102300})." +615198,"Osteosclerotic metaphyseal dysplasia (OSMD) is a rare condition characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones. The shafts of the long bones are osteopenic. Laboratory abnormalities include elevated alkaline phosphatase levels in some, but not all, patients. Elevated urinary pyridinoline and deoxypyridinoline levels, markers of osteoclastic activity, have also been reported ({7:Nishimura and Kozlowski, 1993}; {4:Kasapkara et al., 2013}; {1:Guo et al., 2017}).\n\nPatients with OSMD have been described who also show hypotonia, developmental delay, seizures, and later-onset spastic paraplegia; however, OSMD resulting from mutation in the LRRK1 gene does not appear to include these neurologic features ({7:Nishimura and Kozlowski, 1993}; {4:Kasapkara et al., 2013}; {1:Guo et al., 2017}).\n\n<Subhead> Reviews\n\n{2:Howaldt et al. (2020)} reviewed published reports of LRRK1-associated OSMD, and noted that patients typically present with recurrent pathologic fractures and osteosclerosis at multiple skeletal sites, predominantly at the metaphyses and vertebral bodies. Variable degrees of osteosclerosis of ribs and skull and of Erlenmeyer flask deformity of the femurs have been observed." +615206,"Immunodeficiency-11A is an autosomal recessive primary immunodeficiency characterized by normal numbers of T and B lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T cells and defects in T-cell function (summary by {1:Greil et al., 2013} and {3:Stepensky et al., 2013})." +615207,"Immunodeficiency-56 is an autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens (summary by {1:Kotlarz et al., 2013})." +615217,"AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life ({1:Al Tassan et al., 2012}).\n\nFor a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 ({208920})." +615219,"Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by {2:Shaheen et al., 2017}).\n\nFor a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}." +615220,"Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {8:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}). {4:Keupp et al. (2013)} and {7:Pyott et al. (2013)} described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients." +615222,"Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC; {223800}), which is distinguished from SMC by the additional feature of mental retardation (summary by {2:Dupuis et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 ({607326})." +615224,"Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by {2:Jones et al., 1999}).\n\nFor a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 ({604348})." +615225,"Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma (summary by {3:Zhong et al., 2016})." +615237,"Infants with congenital short bowel syndrome (CSBS) are born with a shortened small intestine, with a mean length of 50 cm compared to the normal length of 190 to 280 cm, and intestinal malrotation. Severe malnutrition develops as a result of the hugely reduced absorptive surface of the small intestine, and infants require parenteral nutrition for survival; however, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life (summary by {8:van der Werf et al., 2012}).\n\nA possible form of congenital short bowel syndrome (see {300048}) is caused by mutation in the FLNA gene ({300017}) on chromosome Xq28." +615249,"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as dystroglycanopathies (summary by {3:Stevens et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670})." +615266,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}." +615267,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}." +615268,"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by {1:Gulsuner et al., 2011}).\n\nFor a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 ({224050})." +615269,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}." +615270,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}." +615271,"Hypogonadotropic hypogonadism-21 (HH21) is characterized by partial or absent puberty in anosmic patients, in association with small testicular volumes in men and primary amenorrhea in women. Low bone mass has also been reported in some patients ({1:Miraoui et al., 2013}).\n\nCongenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}." +615272,"Fanconi anemia (FA) is a rare genomic instability disorder characterized by bone marrow failure, congenital malformations, hypersensitivity to DNA interstrand crosslink-inducing agents, chromosome fragility, and high susceptibility to cancer (summary by {1:Bogliolo et al., 2013}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +615273,"Congenital disorder of deglycosylation-1 (CDDG1) is an autosomal recessive multisystem disorder characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production. Other common features include microcephaly, intractable seizures, abnormal eye movements, and evidence of liver dysfunction. Liver biopsy shows cytoplasmic accumulation of storage material in vacuoles (summary by {1:Enns et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Congenital Disorder of Deglycosylation\n\nSee also CDDG2 ({619775}), caused by mutation in the MAN2C1 gene ({154580}).\n\nFor a discussion of the classification of congenital disorders of glycosylation, see CDG1A ({212065})." +615274,"Mutations in the MIP gene have been found to cause multiple types of cataract, which have been described as 'polymorphic,' progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical." +615277,Mutation in the LIM2 gene has been identified in 1 family with cataracts described as late-onset cortical pulverulent and in another family with congenital cataracts described as total. +615278,"Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by {3:Niihori et al., 2006}). In a phenotypic comparison of BRAF ({164757})-positive and KRAS-positive individuals with CFC, {3:Niihori et al. (2006)} observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutations." +615279,"Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures ({3:Schulz et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of cardiofaciocutaneous syndrome, see CFC1 ({115150})." +615280,"Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by {2:Rauen et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of cardiofaciocutaneous syndrome, see CFC1 ({115150})." +615281,"Hypomyelination with brainstem and spinal cord involvement and leg spasticity is an autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild mental retardation. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord (summary by {1:Taft et al., 2013})." +615285,"Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis (summary by {2:Vilboux et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 ({202700})." +615286,"Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies (NEDBGF) is an autosomal recessive disorder characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood. Most patients have dysmorphic facial features, often with microcephaly and strabismus, and white matter abnormalities on brain imaging. More variable features may include teeth anomalies, distal joint contractures, spasticity, peripheral neuropathy, and behavioral problems (summary by {4:Sharkia et al., 2019})." +615287,"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as dystroglycanopathies (summary by {1:Buysse et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670})." +615290,"SMALED2A is an autosomal dominant form of spinal muscular atrophy characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life (summary by {6:Oates et al., 2013}).\n\nFor discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 ({158600})." +615293,"Infantile myofibromatosis is a disorder of mesenchymal proliferation characterized by the development of benign tumors in the skin, muscle, bone, and viscera. Soft tissue lesions may regress spontaneously. Visceral lesions are associated with high morbidity and mortality (summary by {1:Martignetti et al., 2013}).\n\nFor a discussion of genetic heterogeneity of infantile myofibromatosis, see IMF1 ({228550})." +615294,"Primary ciliary dyskinesia-21 (CILD21) is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by {2:Wirschell et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +615297,"Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by {2:Shaheen et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300})." +615300,"Perrault syndrome-4 (PRLTS4) is an autosomal recessive disorder primarily characterized by early-onset sensorineural hearing loss in both males and females, and premature ovarian failure (POF) in females. Affected individuals may also develop neurologic involvement, including developmental delay or learning difficulties in childhood or onset of progressive movement abnormalities, such as spasticity, in adulthood. Brain imaging may show progressive leukodystrophy (summary by {3:Pierce et al., 2013}, {2:Kosaki et al., 2018} and {6:van der Knaap et al., 2019}).\n\nFor a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 ({233400})." +615312,"Oculocutaneous albinism is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin, and hair (summary by {1:Kausar et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 ({203100})." +615314,"Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {2:Fitzpatrick, 2013}). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms ({4:Sharma et al., 2013}).\n\nFor discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100})." +615327,"Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by {1:Li et al., 2013}).\n\n<Subhead> Review of Reticulate Pigment Disorders\n\n{2:Muller et al. (2012)} reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK), reticulate acropigmentation of Dohi (DSH, RAD; {127400}), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. {2:Muller et al. (2012)} also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). {2:Muller et al. (2012)} concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity.\n\nFor a discussion of genetic heterogeneity of reticulate pigment disorders, see {179850}." +615328,"Shaheen syndrome is an autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by {3:Shaheen et al., 2013})." +615330,"MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by {4:Liu et al., 2018}).\n\nFor a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 ({605711})." +615338,"Developmental and epileptic encephalopathy-16 (DEE16) is a severe autosomal recessive neurologic disorder characterized by the onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood (summary by {1:Duru et al., 2010} and {3:Milh et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +615344,"Primary pulmonary hypertension is a rare progressive disease characterized by increased pulmonary artery pressure in the absence of common causes of pulmonary hypertension, such as chronic heart, lung, or thromboembolic disease. There is often vascular remodeling. The clinical presentation can be nonspecific, and patients often receive a diagnosis late in their clinical course (summary by {1:Ma et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 ({178600})." +615346,"Early activation of the hypothalamic-pituitary-gonadal axis results in gonadotropin-dependent precocious puberty, also known as central precocious puberty, which is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Pubertal timing is influenced by complex interactions among genetic, nutritional, environmental, and socioeconomic factors. The timing of puberty is associated with risks of subsequent disease: earlier age of menarche in girls is associated with increased risk of breast cancer, endometrial cancer, obesity, type 2 diabetes, and cardiovascular disease. Central precocious puberty has also been associated with an increased incidence of conduct and behavior disorders during adolescence (summary by {1:Abreu et al., 2013}).\n\nFor discussion of genetic heterogeneity of central precocious puberty, see CPPB1 ({176400})." +615348,"Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by {2:Ravenscroft et al., 2013}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800})." +615349,"The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin ({2:Okajima et al., 1999}).\n\nFor a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}." +615351,"MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and impaired intellectual development. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {1:Carss et al., 2013}).\n\nFor a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 ({613155})." +615352,"MDDGC14 is an autosomal recessive form of muscular dystrophy characterized by onset in early childhood of mild proximal muscle weakness. Some patients may have additional features, such as mild intellectual disability or seizures. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {2:Carss et al., 2013}). Some patients with GMPPB mutations may show features consistent with a congenital myasthenic syndrome (see, e.g., CMS1A; {601462}), such as fatigability and decremental compound muscle action potential response to repetitive nerve stimulation; these patients may show a positive therapeutic response to treatment with pyridostigmine ({1:Belaya et al., 2015}).\n\nFor a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 ({609308})." +615355,"Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by {1:Aoki et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950})." +615356,"Autosomal recessive limb-girdle muscular dystrophy-18 (LGMD18) is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by {1:Bogershausen et al., 2013}). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis ({5:Liang et al., 2015}; {4:Koehler et al., 2017}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 ({253600})." +615362,"Neuronal ceroid lipofuscinosis-13 (CLN13) is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by {3:Smith et al., 2013}).\n\nAdult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease (see {204300}). In a review of the classification of CLN disease, {2:Gardner and Mole (2021)} noted that the CLN13 phenotype corresponds to 'Kufs type B', which is characterized by dementia and a variety of motor signs ({3:Smith et al., 2013}).\n\nFor a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 ({256730})." +615363,"Estrogen resistance (ESTRR) is characterized by absence of puberty with elevated estradiol and gonadotropic hormones, as well as markedly delayed bone maturation. Female patients show absent breast development, small uterus, and enlarged multicystic ovaries; male patients may show small testes ({1:Bernard et al., 2017}). Some patients exhibit continued growth into adulthood ({4:Smith et al., 1994})." +615369,"Developmental and epileptic encephalopathy-94 (DEE94) is a severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and impaired intellectual development (summary by {1:Carvill et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +615376,"CMTRIC is an autosomal recessive peripheral neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy. The upper limbs may also be affected. Electrophysiologic studies and sural nerve biopsy show mixed features of demyelinating and axonal neuropathy. The age at onset and the severity of the disease are variable (summary by {1:Azzedine et al., 2013}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive intermediate CMT, see CMTRIA ({608340})." +615377,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583})." +615378,"Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke ({1:Brugada et al., 1997}).\n\nFor a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 ({608583})." +615381,"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs late in the first or second decades of life (summary by {2:Weedon et al., 2013})." +615386,"Autosomal recessive spinocerebellar ataxia-14 (SCAR14) is a neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and impaired intellectual development (summary by {4:Lise et al., 2012})." +615387,"Immunodeficiency-7 (IMD7) is an autosomal recessive immunologic disorder characterized by onset of recurrent bacterial and viral infections in infancy or early childhood. Affected individuals may also have features of immune dysregulation, including lymphadenopathy and presence of autoantibodies. Laboratory studies show increased serum IgE, low numbers of T cells, low TCR-alpha/beta cells, and increased TCR-gamma/delta cells. The disorder often results in death in childhood, although bone marrow transplant is effective (summary by {1:Morgan et al., 2011} and {2:Rawat et al., 2021})." +615390,"For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux (VUR), see {193000}." +615398,"Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by {4:Maydan et al., 2011}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of MCAHS, see MCAHS1 ({614080}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +615400,"Familial adult myoclonic epilepsy-5 is an autosomal recessive neurologic disorder characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Some patients may also have neuropsychiatric abnormalities (summary by {1:Stogmann et al., 2013})." +615402,"Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by {2:Zhang et al., 2013}).\n\nFor a discussion of genetic heterogeneity of DUH, see DUH1 ({127500})." +615415,"RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by {4:Grampa et al., 2016}).\n\nFor a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 ({208540})." +615418,"Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by {3:Echaniz-Laguna et al., 2012}).\n\nFor a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 ({603041})." +615419,"Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by {1:Al-Sayed et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies\n\nSee also IHPRF2 ({616801}), caused by mutation in the UNC80 gene ({612636}) on chromosome 2q34; and IHPRF3 ({616900}), caused by mutation in the TBCK gene ({616899}) on chromosome 4q24." +615420,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {1:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +615425,"EBS3 is a mild autosomal recessive dermatologic disorder characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques (summary by {3:Liu et al., 2012}).\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760})." +615431,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {3:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of myopia, see {160700}." +615432,"Specific language impairment-5 is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by {1:Wiszniewski et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 ({602081})." +615433,"The chromosome 3q13.31 deletion syndrome is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia ({1:Molin et al., 2012}).\n\nPatients with Primrose syndrome (PRIMS; {259050}) exhibit features overlapping those of the chromosome 3q13.31 deletion syndrome but also have ossified ear cartilage, severe muscle wasting, and abnormalities of glucose metabolism resulting in insulin-resistant diabetes mellitus in adulthood. Primrose syndrome is caused by mutation in the ZBTB20 gene ({606025}) on chromosome 3q13." +615439,"Age-related macular degeneration (ARMD) is a multifactorial disorder of the central retina that is the most prevalent cause of progressive vision loss in the developed world. As in other chronic age-related diseases, most cases result from interplay between multiple environmental and genetic factors, with a resultant spectrum of phenotypes. In rare cases, ARMD may manifest early, but there is an exponential rise in prevalence after the age of 60 years (summary by {5:Pras et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration (ARMD), see {603075}." +615440,"Combined oxidative phosphorylation deficiency-17 is an autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood (summary by {1:Haack et al., 2013})." +615441,"Cardiac arrhythmia syndrome with or without skeletal muscle weakness (CARDAR) is characterized by onset of exercise- or emotion-induced cardiac arrhythmias in infancy or early childhood, associated with syncope or cardiac arrest. Electrocardiography shows variable abnormalities, including polymorphic or bidirectional ventricular extrasystoles and/or transient or persistent prolonged QT intervals, as well as inverted T-waves across the precordial leads. Cardiac events are refractory to both beta-blockers and left cardiac sympathetic denervation. Skeletal muscle weakness has been reported in some patients ({7:Roux-Buisson et al., 2012}; {1:Altmann et al., 2015}).\n\n<Subhead> Reviews\n\n{3:Giudicessi and Ackerman (2016)} reviewed the role of Ca(2+) cycling in cardiac repolarization and in the pathogenesis of long QT-associated cardiac arrhythmias. They noted that TRDN-null mouse models show remodeling of the calcium release unit molecular architecture, implicating either early or delayed after-depolarization as the mechanism predominantly responsible for the observed ventricular arrhythmias.\n\n{2:Clemens et al. (2019)} established an International Triadin Knockout Syndrome Registry and reviewed 14 previously published patients with TRDN-associated cardiac arrhythmias, as well as 7 additional patients. Affected individuals presented with either cardiac arrest or syncope at an average age of 3 years. The most common trigger was physical exertion, although a large number of events were not associated with a specific trigger. Mild skeletal myopathy or slight proximal muscle weakness was observed in 6 (29%) of the patients. Two patients died after cardiac events. Of the 19 surviving patients, 16 (84%) showed T-wave inversions across precordial leads, extending to V3 or V4, and 10 (53%) had transient QT prolongation greater than 480 ms. In addition, 8 (89%) of 9 patients who underwent exercise stress testing exhibited ventricular ectopy. All 16 patients tested had normal echocardiograms. The 19 surviving patients were treated with beta-blockers, and 13 (68%) also received implantable defibrillators; however, despite treatment, 14 (74%) of the patients experienced recurrent breakthrough cardiac events." +615444,"Primary ciliary dyskinesia-22 (CILD22) is an autosomal recessive disorder caused by defective structure and function of cilia or flagella. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic cough, sinusitis, bronchiectasis, and male infertility. Defective motility of embryonic nodal cilia leads to situs abnormalities in about 50% of patients. CILD22 is characterized by defects of the inner and outer dynein arms (summary by {2:Zariwala et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +615451,"Primary ciliary dyskinesia-23 is an autosomal recessive disorder resulting from defective ciliary motility. Affected individuals have respiratory distress and recurrent upper and lower airway infections, and they often develop bronchiectasis. About 50% of patients have situs inversus or laterality defects. Ultrastructural analysis of respiratory cilia shows defects in the outer dynein arm (summary by {1:Hjeij et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}." +615453,"Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by {1:Gaignard et al., 2013}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 ({124000})." +615465,"Hartsfield syndrome classically refers to the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound mental retardation is also present. Multiple other congenital anomalies usually occur ({4:Vilain et al., 2009}). The disorder involves midline and limb field defects ({6:Zechi-Ceide et al., 2009}).\n\nSee also ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC; {129900}), which shows phenotypic similarities." +615471,"Mitochondrial DNA depletion syndrome-13 is an autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content (summary by {1:Bonnen et al., 2013} and {2:Gai et al., 2013}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 ({603041})." +615473,"Developmental and epileptic encephalopathy-17 (DEE17) is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life. EEG often shows a burst-suppression pattern consistent with a clinical diagnosis of Ohtahara syndrome. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by {2:Nakamura et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +615476,"Developmental and epileptic encephalopathy-18 (DEE18) is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, and early onset of refractory seizures. Brain imaging shows a thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by {1:Basel-Vanagaite et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +615481,"Primary ciliary dyskinesia-24 is an autosomal recessive disorder resulting from defects of motile cilia. It is characterized clinically by sinopulmonary infection and subfertility; situs inversus is not observed. Ultrastructural examination of mutant cilia shows defects of the central microtubule complex and radial spokes (summary by {1:Kott et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}." +615482,"Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by {1:Tarkar et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}." +615483,"Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by {1:Keller et al., 2013}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600})." +615485,"Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by {3:Srivastava et al., 2016})." +615486,"Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by {1:Hadchouel et al., 2015})." +615491,"Spastic paraplegia-79 (SPG79) is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by {3:Rydning et al., 2017}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +615500,"Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by {1:Austin-Tse et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}." +615503,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500})." +615504,"Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms and nexin links. Situs inversus has not been reported in these patients (summary by {1:Austin-Tse et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}." +615505,"Primary ciliary dyskinesia-28 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms (summary by {1:Knowles et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +615506,"Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant syndrome characterized by telangiectases and arteriovenous malformations (AVMs). Hallmark features are recurrent epistaxis due to telangiectases of the nasal mucosa; telangiectases on the lips, hands, and oral mucosa; solid-organ AVMs, particularly of the lungs, liver, and brain; and a family history of the same. Presentation with 3 of these criteria is considered diagnostic for HHT (summary by {1:Wooderchak-Donahue et al., 2013})." +615510,"Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome ({231550}), but patients with AAMR do not have adrenal insufficiency (summary by {3:Koehler et al., 2013}).\n\nSee also {300858} for a phenotypically similar disorder that shows X-linked inheritance." +615511,"Myoadenylate deaminase deficiency (MMDD) is an autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia. However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., {22:Verzijl et al., 1998}) that AMPD1 deficiency may be a harmless entity (summary by {2:Castro-Gago et al., 2011}).\n\n{7:Genetta et al. (2001)} stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent ({15:Sabina et al., 1989}). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to {7:Genetta et al. (2001)}." +615512,"Triosephosphate isomerase deficiency (TPID) is an autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, and progressive neuromuscular dysfunction beginning in early childhood. Many patients die from respiratory failure in childhood. The neurologic syndrome is variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Some patients may show additional signs such as dystonic posturing and/or spasticity. Laboratory studies show intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells (summary by {11:Fermo et al., 2010})." +615513,"Autosomal dominant immunodeficiency-14A (IMD14A) is a primary immunodeficiency characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas (summary by {4:Lucas et al., 2014})." +615518,"Idiopathic CD4 lymphopenia (ICL) is a rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T cells) in the absence of HIV infection or other known causes of immunodeficiency. ICL predisposes to infections and malignancy (summary by {1:Gorska and Alam, 2012})." +615522,"Cole disease is a rare autosomal dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show nonspecific changes including hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer (summary by {2:Eytan et al., 2013}). Some patients also exhibit calcinosis cutis or early-onset calcific tendinopathy ({2:Eytan et al., 2013})." +615523,"Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by {1:Riazuddin et al., 2013}).\n\nFor a discussion of genetic heterogeneity of FECD, see FECD1 ({136800})." +615527,"Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae with Candida albicans, and sometimes by staphylococcal skin infections (summary by {1:Boisson et al., 2013}).\n\nFor a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 ({114580})." +615528,"Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by {1:Edvardson et al., 2012} and {3:Koroglu et al., 2013}).\n\nParkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy ({4:Olgiati et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD ({168600})." +615529,"Premature fusion of the various sutures in the human neurocranium (skull vault and base) is defined as craniosynostosis (CRS). Clinical consequences include abnormal head shape and increased intracranial pressure, which may result in neurologic symptoms, developmental delay, and hearing or vision problems. Approximately 80% of cases are classified as nonsyndromic craniosynostosis and present as isolated suture fusion with no other associated anomalies. Sagittal suture fusion is the most common form of isolated craniosynostosis, accounting for 40 to 58% of all isolated cases (summary by {2:Yagnik et al., 2012}).\n\nFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100})." +615530,"Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by {2:Krebs et al., 2013} and {3:Quadri et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD ({168600})." +615537,"Reticulate acropigmentation of Kitamura (RAK) is a rare pigmentary disorder that usually shows an autosomal dominant pattern of inheritance with high penetrance. Typical features include reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of the hands and feet in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities; progression of the eruptions stops in middle age. The increased pigmentation is found on the flexor aspects of the wrists, neck, patella, and olecranon. Other features include breaks in the epidermal ridges on the palms and fingers, palmoplantar pits, partial alopecia, and occasionally plantar keratoderma. Histopathologically, the brown macules show pigmentation in the tip of rete ridges with thinning of the epidermis, elongation and thinning of the rete ridges, and slight hyperkeratosis without parakeratosis. Only a few inflammatory cell infiltrates and no incontinentia pigmenti are seen in the dermis (summary by {4:Kono et al., 2013}).\n\n<Subhead> Review of Reticulate Pigment Disorders\n\n{5:Muller et al. (2012)} reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease (see DDD1; {179850}), reticulate acropigmentation of Kitamura (RAK), reticulate acropigmentation of Dohi (DSH, RAD; {127400}), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. {5:Muller et al. (2012)} also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). {5:Muller et al. (2012)} concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity.\n\nFor a discussion of genetic heterogeneity of reticulate pigment disorders, see {179850}." +615539,"The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by {1:Muller et al., 2013}).\n\nFor a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 ({601776})." +615546,"Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by {1:Cappello et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Van Maldergem syndrome, see {601390}." +615547,"SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Some patients may have central endocrine abnormalities, such as growth hormone deficiency or hypothyroidism. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene. Some of the features overlap with those observed in Prader-Will syndrome (PWS; {176270}) (summary by {4:Fountain et al., 2017}; {6:Jobling et al., 2018})." +615550,"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {1:Landowski et al., 2013}).\n\nFor a discussion of genetic heterogeneity of DBA, see DBA1 ({105650})." +615551,"Familial episodic pain syndrome-2 is an autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities (summary by {1:Faber et al., 2012}).\n\nFor a discussion of genetic heterogeneity of familial episodic pain syndrome, see {615040}." +615552,"Familial episodic pain syndrome is an autosomal dominant disorder characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes affecting the upper extremities as well. The pain comes in cycles lasting several days, is exacerbated by fatigue, may be accompanied by sweating, and can be relieved by antiinflammatory medication. Severe episodic pain tends to diminish with age (summary by {3:Zhang et al., 2013}).\n\nFor a discussion of the genetic heterogeneity of familial episodic pain syndrome, see FEPS1 ({615040})." +615553,"Arthrogryposis, impaired intellectual development, and seizures is an autosomal recessive disorder characterized by skeletal abnormalities, including arthrogryposis, short limbs, and vertebral malformations, impaired intellectual development, and seizures consistent with early-onset epileptic encephalopathy in some patients. Other features may include cleft palate, micrognathia, posterior embryotoxon, talipes valgus, rocker-bottom feet, and dysmorphic facies ({1:Edmondson et al., 2017}; {3:Marini et al., 2017})." +615554,"Fibroadenoma represents a benign breast disease characterized by lobuloalveolar growth with abnormally high proliferation of the epithelium. Patients with more than 3 fibroadenomas in 1 breast are considered to have multiple fibroadenomas (summary by {1:Bogorad et al., 2008})." +615555,"Hyperprolactinemia unrelated to pregnancy occurs in approximately 0.1 to 0.3% of the general population and may result in infertility, hypogonadism, and galactorrhea. Such nonphysiologic hyperprolactinemia is caused mainly by drugs or by tumors in the anterior pituitary gland, primarily prolactinomas (see {102200}). However, 10 to 60% of patients with hyperprolactinemia who undergo MRI have normal findings (summary by {8:Newey et al., 2013}).\n\nPatients with hyperprolactinemia may also experience agalactia ({5:Kobayashi et al., 2018})." +615557,"Melioidosis is infection caused by the gram-negative, flagellated soil saprophyte Burkholderia pseudomallei, which is endemic in parts of southeast Asia and northern Australia. Sepsis is a common clinical presentation of disease, and lung is the organ most commonly involved. In northern Thailand, where B. pseudomallei is the most common bloodstream isolate, the overall melioidosis mortality rate exceeds 40%, and pneumonia confers more than 2-fold increased risk of death (summary by {1:West et al., 2013})." +615558,"Hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL; {200100}) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of FHBL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance, whereas obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance (summary by {15:Lee and Hegele, 2014}).\n\n<Subhead> Genetic Heterogeneity of Familial Hypobetalipoproteinemia\n\nFamilial hypobetalipoproteinemia-2 (FHBL2; {605019}) is caused by mutation in the ANGPTL3 gene ({604774}) on chromosome 1p31." +615559,"Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by {6:Oliveira, 2013}).\n\nFor a general description and a discussion of genetic heterogeneity of ALPS, see {601859}." +615560,"Otofaciocervical syndrome-2 with T-cell deficiency (OTFCS2) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by {3:Pohl et al., 2013}). Patients have been reported who also exhibit altered thymus development with T-cell immunodeficiency and recurrent, sometimes fatal, infections ({1:Paganini et al., 2017}; {4:Yamazaki et al., 2020}).\n\nFor a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 ({166780})." +615565,"Retinitis pigmentosa (RP) is the name given to a group of hereditary retinal conditions in which degeneration of rod photoreceptors, responsible for vision under dark conditions, is more pronounced than that of cone photoreceptors, which mediate daylight vision. Individuals with RP typically experience night blindness at first, followed by progressive and unstoppable visual impairment in daytime conditions as well. Their visual fields become reduced gradually and sight is lost from the midperiphery to the periphery, then from the midperiphery to the center, resulting eventually in complete or near-complete blindness if left untreated. Most patients show intraretinal pigment in a bone-spicule configuration around the fundus periphery as well as retinal arteriolar attenuation, elevated final dark-adapted thresholds, and reduced and delayed electroretinograms. Autosomal recessive RP is the most common form of hereditary retinal degeneration in humans (summary by {1:Nishiguchi et al., 2013}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +615573,"Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by {1:Ashraf et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300})." +615574,"ASNS deficiency (ASNSD) is an autosomal recessive severe neurologic disorder characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, cortical atrophy, and seizure or hyperekplexic activity. The disorder may show onset in utero or at birth and may result in early death (summary by {3:Ruzzo et al., 2013}); it may also present with early normal development followed by infantile-onset seizures and neurodevelopmental delays ({4:Sacharow et al., 2018})." +615575,"Distal hereditary motor neuronopathy type IID is an autosomal dominant neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by {2:Sumner et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1; {182960})." +615577,"Common variable immunodeficiency-10 (CVID10) is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by {3:Chen et al., 2013}).\n\nFor a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 ({607594})." +615578,"Combined oxidative phosphorylation deficiency-18 is an autosomal recessive disorder of mitochondrial function characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia (summary by {1:Hildick-Smith et al., 2013}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +615582,"Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by {1:Bertoli-Avella et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 ({609192})." +615583,"Verheij syndrome is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects (summary by {6:Verheij et al., 2009} and {1:Dauber et al., 2013})." +615589,"Otosclerosis is a hearing disorder that is associated with disordered bone remodeling in the otic capsule. The bone remodeling can result in conductive, mixed, or sensorineural hearing loss as a result of stapes footplate fixation or cochlear involvement (summary by {1:Schrauwen et al., 2011})." +615592,"Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by {3:Pannicke et al., 2013})." +615593,"Immunodeficiency-16 is an autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency ({1:Byun et al., 2013})." +615597,"Congenital disorder of glycosylation type Ix (CDG1X) is a rare autosomal recessive disorder of protein glycosylation. Clinical features include hypotonia, developmental delay, seizures and respiratory difficulties ({2:Shrimal et al., 2013}; {1:Kilic and Akkus, 2020})." +615598,"Nagashima-type palmoplantar keratoderma is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis, first described by {5:Nagashima (1977)} in the Japanese literature. It is characterized by well-demarcated diffuse erythematous hyperkeratosis that extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Involvement of the elbows and knees has also been reported, and there is a high frequency of hyperhidrosis on the palms and soles. In contrast to other types of transgressive diffuse hyperkeratosis such as mal de Meleda ({248300}) and the Gamborg Nielsen type of recessive PPK (PPK Norrbotten; {244850}), PPKN shows only mild hyperkeratosis that is nonprogressive after the second decade and does not involve flexion contractures or constricting bands (summary by {3:Kubo et al., 2013}).\n\nFor a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK ({144200})." +615605,"Fanconi renotubular syndrome-3 (FRTS3) is an autosomal dominant disorder characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria (summary by {1:Klootwijk et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 ({134600})." +615607,"Immunodeficiency-17 is an autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, particularly of cytotoxic CD8 (see {186910})-positive cells, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor (TCR)-dependent stimuli. B cells, natural killer (NK) cells, and immunoglobulins are usually normal. Although thymic output of functional naive T cells early in life is decreased, polyclonal expansion of functional memory T cells is substantial. The phenotype in some patients is reminiscent of severe combined immunodeficiency (SCID) (summary by {7:Timon et al. (1993)} and {5:Recio et al. (2007)})." +615612,"Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals, causing over 40% of cases in that age group (summary by {1:Feldman et al., 2013}).\n\nFor discussion of genetic heterogeneity of developmental dysplasia of the hip, see DDH1 ({142700})." +615615,"Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by {1:de Saint Basile et al., 2004})." +615616,"Arrhythmogenic right ventricular cardiomyopathy/dysplasia-13 (ARVD13) is characterized by progressive fibrofatty myocardial replacement, primarily of the right ventricle. The main clinical features are structural and functional abnormalities of the ventricles, electrocardiographic depolarization/repolarization changes, reentrant arrhythmias, and sudden death (summary by {1:van Hengel et al., 2013})." +615617,"Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by {4:Yu et al., 2011})." +615619,"Carcinomas of the biliary tract are aggressive malignancies, with 5-year survival of less than 10%. These carcinomas arise throughout the biliary tree and are anatomically classified as either intrahepatic or extrahepatic cholangiocarcinomas. Gallbladder carcinomas also arise from the biliary tree but have distinct natural histories compared to cholangiocarcinomas, suggesting different underlying tumor biology.\n\nCholangiocarcinoma incidence varies widely between geographic regions, reflecting the impact of different underlying etiologies. In endemic areas, liver fluke infections by O. viverrini and Clonorchis sinensis, both group I carcinogens, represent the major risk factor for cholangiocarcinomas. In nonendemic regions, other risk factors, including choledochal cysts ({603003}), hepatolithiasis, and primary sclerosing cholangitis ({613806}), are likely contributors (summary by {1:Chan-on et al., 2013}). Overall, the majority of patients lack such identifiable risk factors (summary by {2:Jiao et al., 2013})." +615625,"Hereditary spastic paraplegia-72 is a pure form of spastic paraplegia with onset of difficulty walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. The disorder is slowly progressive, and some patients develop the need for assistance in walking. Some patients may have pes cavus or sphincter disturbances. Cognition, speech, and ocular function are normal (summary by {1:Esteves et al., 2014}).\n\nFor a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600}), and for autosomal recessive spastic paraplegia, see SPG5A ({270800})." +615629,"Autosomal dominant deafness-56 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by {1:Zhao et al., 2013})." +615630,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {3:Huber and Cormier-Daire, 2012} and {4:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500})." +615631,"Congenital dyserythropoietic anemia type I is an autosomal recessive hematologic disorder characterized by congenital macrocytic anemia secondary to ineffective erythropoiesis. The bone marrow shows erythroid hyperplasia, with nuclear abnormalities in most erythroblasts. Up to 3% of erythroblasts have interchromatin bridges, and erythroblast nuclei are abnormally electron dense with spongy ('Swiss cheese-like') heterochromatin on electron microscopy. Some reported patients have distal digital abnormalities (summary by {2:Ahmed et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of CDA, see CDAN1A ({224120})." +615632,"Hereditary sensory neuropathy type IF is an autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment (summary by {2:Kornak et al., 2014}).\n\nFor a discussion of genetic heterogeneity of HSN, see HSAN1A ({162400})." +615633,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 ({208500})." +615636,"Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by {1:Akizu et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}." +615643,"Neurodegeneration with brain iron accumulation refers to a group of neurodegenerative disorders characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. Brain imaging shows iron accumulation in the basal ganglia (summary by {1:Dusi et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 ({234200})." +615651,"Leukoencephalopathy with ataxia is an autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient (ADC) values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles. The findings suggest myelin microvacuolation restricted to certain brain regions. Clinical features include ataxia and unstable gait; more variable abnormalities may include visual field defects, headaches, and learning disabilities (summary by {3:Depienne et al., 2013})." +615656,"A heterozygous deletion of chromosome 15q11.2 may increase the susceptibility to neuropsychiatric or neurodevelopmental problems, including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, and possibly seizures (summary by {3:Doornbos et al., 2009} and {1:Burnside et al., 2011}).\n\nSee also chromosome 15q11.2 duplication syndrome ({608636})." +615663,"Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by {4:Morris-Rosendahl et al., 2010}).\n\nFor a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}." +615670,"Schwannomatosis is an adult-onset tumor predisposition syndrome characterized by the development of multiple schwannomas in various areas of the body (summary by {1:Piotrowski et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of schwannomatosis, see SWNTS1 ({162091})." +615673,"Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling (summary by {3:Logan et al., 2014}). Brain MRI in 1 patient showed congenital malformations, including polymicrogyria and cerebellar dysplasia ({5:Wilton et al., 2020})." +615674,"For a general phenotypic description and a discussion of genetic heterogeneity of Dowling-Degos disease, see DDD1 ({179850})." +615688,"Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits (summary by {8:Zhou et al., 2014} and {2:Navon Elkan et al., 2014}). Some patients present with clinical immunodeficiency ({4:van Eyck et al., 2014}).\n\n{1:Lee (2018)} reviewed the basic biology of ADA2 and the various clinical manifestations of ADA2 deficiency, which include vasculitis affecting small- and medium-sized vessels causing early-onset stroke with subsequent neurologic signs, skin ulcerations resembling polyarteritis nodosa, peripheral neuropathy, immunodeficiency, autoimmune features, and hematologic abnormalities, including anemia and leukopenia. The clinical features are highly pleiotropic, and patients can present with only some of these main features. The hematologic manifestations of the disorder may sometimes resemble Diamond-Blackfan anemia (see, e.g., DBA1, {105650})." +615697,"For a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL1 ({600512})." +615704,"Poikiloderma, characterized by mottled pigmentation, telangiectasia, and epidermal atrophy, can be accompanied by tendon contractures, myopathy, and progressive pulmonary fibrosis. Clinical manifestations include poikiloderma from early childhood with telangiectasia and pigmentary anomalies on sun-exposed areas, tendon contractures that tend to involve the ankles and feet with gait disturbances, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function. Additional features include heat intolerance, reduced sweating, and thin hair (summary by {2:Mercier et al., 2013})." +615705,"Autosomal recessive spinocerebellar ataxia-15 (SCAR15) is characterized by early-onset ataxia, cognitive impairment, dysarthria, and developmental delay. Variable features include seizures, nystagmus, and abnormal reflexes ({4:Seidahmed et al., 2020})." +615706,"Auriculocondylar syndrome (ARCND) is a rare craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia, prominent cheeks, and question mark ears (QMEs). QMEs consist of a defect between the lobe and the upper two-thirds of the pinna, ranging from a mild indentation in the helix to a complete cleft between the lobe and helix (summary by {1:Gordon et al., 2013}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 ({602483})." +615707,"Immunodeficiency-20 is a rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Patient NK cells are defective in spontaneous cell cytotoxicity, but retain antibody-dependent cellular cytotoxicity. Patients typically present early in childhood with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV) (summary by {2:Grier et al., 2012})." +615710,"Mitchell-Riley syndrome is characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia. There is considerable phenotypic overlap between Mitchell-Riley syndrome and Martinez-Frias syndrome ({601346}), the latter being characterized by the features of the Mitchell-Riley syndrome except for neonatal diabetes, and including tracheoesophageal fistula in some patients ({10:Smith et al., 2010})." +615711,"For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see {104300}." +615715,"Bone marrow failure syndrome-2 is an autosomal recessive disorder characterized by trilineage bone marrow failure, learning disabilities, and microcephaly. Cutaneous features and increased chromosome breakage are not features ({1:Tummala et al., 2014}).\n\nFor a discussion of genetic heterogeneity of BMFS, see BMFS1 ({614675})." +615716,"Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by {3:Howard et al., 2014}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of HPMRS, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +615721,"Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; {610805}), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by {3:Joss et al., 2003}; {2:Humbert et al., 2014}).\n\nFor a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 ({191830})." +615722,"Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal dominant disorder characterized by delayed development, moderately impaired intellectual development, and optic atrophy. Most patients also have evidence of cerebral visual impairment. Dysmorphic facial features are variable and nonspecific (summary by {2:Bosch et al., 2014})." +615723,"Premature ovarian failure (POF), the endpoint of primary ovarian insufficiency, affects approximately 1% of women worldwide. Patients with POF present with at least a 6-month history of amenorrhea and elevated plasma levels of follicle-stimulating hormone (more than 40 mIU per milliliter). The disorder can result from premature depletion of the follicle pool, follicular atresia, follicle growth arrest, or ovarian dysgenesis (see {233300}). In approximately 10 to 15% of patients with POF, a genetic cause has been determined (summary by {1:Caburet et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of premature ovarian failure, see POF1 ({311360}).\n\nMutation in the STAG3 gene also causes male infertility; see spermatogenic failure-61 (SPGF61; {619672})." +615724,"Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years (summary by {1:Wang et al., 2014}).\n\nFor a general phenotypic description and discussion of the genetic heterogeneity of premature ovarian failure, see POF1 ({311360})." +615726,"Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {13:Sybert, 2010}; {4:Eliason et al., 2012}; {7:McLean et al., 2011}).\n\nFor a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{6:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{10:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {14:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis." +615728,"Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by {9:Sybert, 2010}; {1:Eliason et al., 2012}; {4:McLean et al., 2011}).\n\nFor a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.\n\n<Subhead> Historical Classification of Pachyonychia Congenita\n\n{2:Gorlin et al. (1976)} suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.\n\n{7:Smith et al. (1998)} stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas ({184500}) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.\n\nOn the basis of a study of 13 patients with PC type 1 or type 2, {10:Terrinoni et al. (2001)} concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis." +615731,"Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by {1:Gupta et al., 2013}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see {161800}." +615744,"Developmental and epileptic encephalopathy-19 (DEE19) is a neurologic disorder characterized by the onset of various types of seizures in the first year of life, usually between 8 and 12 months of age. Seizures are often triggered by fever, and status epilepticus may occur. Affected individuals subsequently show mild to moderately impaired intellectual development. Brain imaging is typically normal. The clinical phenotype is similar to that of Dravet syndrome (DRVT; {607208}) (summary by {1:Carvill et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +615745,"Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by {3:Fazelifar et al., 2005})." +615750,"Moyamoya disease-6 is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory neovascularization and the moyamoya, or 'puff of smoke,' appearance of these vessels on angiogram. Affected individuals may present with ischemic strokes, intracerebral hemorrhage, or transient ischemic attacks. Patients with MYMY6 usually present early in life with achalasia. Hypertension and Raynaud phenomenon may be associated features (summary by {2:Wallace et al., 2016}; {1:Herve et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 ({252350})." +615751,"Carbonic anhydrase VA deficiency is an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation shows multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities include hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder shows a relatively benign course. Treatment with carglumic acid can result in neurologic improvement (summary by {2:van Karnebeek et al., 2014})." +615752,"Autosomal recessive bilateral perisylvian polymicrogyria is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability ({1:Bae et al., 2014})." +615760,"Progressive microcephaly with seizures and cerebral and cerebellar atrophy is a severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. Patients are born with microcephaly and soon develop intractable seizures, resulting in profoundly delayed development and hypotonia (summary by {1:Zhang et al., 2014})." +615768,"Autosomal recessive spinocerebellar ataxia-16 (SCAR16) is a progressive neurologic disorder characterized by truncal and limb ataxia, resulting in gait instability, associated with cerebellar atrophy on brain imaging. Most patients have onset in the teenage years, although earlier and later onset have been reported. Additional features may include dysarthria, nystagmus, hyperreflexia of the lower limbs, and mild peripheral sensory neuropathy. Some patients have gonadal dysfunction or hypogonadism and/or cognitive deficits. The phenotype represents a spectrum or continuum of neurodegenerative features that may overlap with those of SCA48 (summary by {5:Shi et al., 2013} and {3:Ravel et al., 2021})." +615770,"Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by {1:Oberti et al., 2004}).\n\nFor a discussion of genetic heterogeneity of atrial fibrillation, see {608583}." +615774,"The zona pellucida (ZP) is a glycoprotein matrix that surrounds oocytes and has an average thickness of 17 micrometers. It is vital for the production of oocytes in early development, for fertilization, and for protection of early embryos before implantation. Absence of the zona pellucida in OOMD1 results in sterility (summary by {1:Huang et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Oocyte Maturation Defects\n\nAlso see OOMD2 ({616780}), caused by mutation in the TUBB8 gene ({616768}) on chromosome 10p15; OOMD3 ({617712}), caused by mutation in the ZP3 gene ({182889}) on chromosome 7q11; OOMD4 ({617743}), caused by mutation in the PATL2 gene ({614661}) on chromosome 15q21; OOMD5 ({617996}), caused by mutation in the WEE2 gene ({614084}) on chromosome 7q34; OOMD6 ({618353}), caused by mutation in the ZP2 gene ({182888}) on chromosome 16p12; OOMD7 ({618550}), caused by mutation in the PANX1 gene ({608420}) on chromosome 11q21; OOMD8 ({619009}), caused by mutation in the BTG4 gene ({605673}) on chromosome 11q23; OOMD9 ({619011}), caused by mutation in the TRIP13 gene ({604507}) on chromosome 5p15; OOMD10 ({619176}), caused by mutation in the REC114 gene ({618421}) on chromosome 15q24; OOMD11 ({619643}), caused by mutation in the ASTL gene ({608860}) on chromosome 2q11; and OOMD12 ({619697}), caused by mutation in the FBXO43 gene ({609110}) on chromosome 8q22." +615777,"Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by {2:Bui et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 ({251450})." +615779,"The multiple types of congenital heart defects observed in CHTD4 include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta. Intrafamilial variability and incomplete penetrance has been reported ({1:Al Turki et al., 2014}; {6:Qiao et al., 2018}). Some patients exhibit syndromic features such as developmental delay, congenital diaphragmatic hernia, and severe gastroesophageal reflux ({3:High et al., 2016}; {7:Upadia et al., 2018}).\n\nFor a discussion of genetic heterogeneity of multiple types of congenital heart defects, see CHTD1 ({306955})." +615780,"Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by {1:El Shamieh et al., 2014}).\n\nFor a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +615789,"Short stature with microcephaly and distinctive facies is characterized by pre- or postnatal growth retardation, frontal bossing, high forehead, sparse hair and eyebrows, and telecanthus. Patients also show skin dyspigmentation, with hyper- and/or hypopigmented areas ({1:Leduc et al., 2016})." +615802,"Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities (NEDDSBA) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include nonspecific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment (summary by {1:Bosch et al., 2015}). {4:Novarino et al. (2014)} labeled the disorder 'spastic paraplegia-67' (SPG67). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +615803,"Pontocerebellar hypoplasia type 10 is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy and delayed myelination. Some patients have dysmorphic features and an axonal sensorimotor neuropathy (summary by {2:Karaca et al., 2014} and {3:Schaffer et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596})." +615807,"Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by {2:Shanske et al., 1997}).\n\nFor a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 ({210600})." +615809,"Pontocerebellar hypoplasia type 9 is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination (summary by {1:Akizu et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596})." +615816,"IMD23 is an autosomal recessive primary immunodeficiency syndrome characterized by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity (summary by {2:Bjorksten and Lundmark, 1976} and {7:Zhang et al., 2014})." +615817,"Autosomal recessive intellectual developmental disorder-43 (MRT43) is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features. Some patients may have significant motor delays (summary by {1:Gangfuss et al., 2022})." +615828,"Vulto-van Silfout-de Vries syndrome (VSVS) is an intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities, including autistic features and poor eye contact. Most patients have additional nonspecific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances (summary by {2:Nabais Sa et al., 2019})." +615829,"Xia-Gibbs syndrome (XIGIS) is characterized by impaired intellectual development with absent or poor expressive language, obstructive sleep apnea, mild dysmorphic features, and brain abnormalities ({4:Xia et al., 2014}). Patients with XIGIS can have a broad clinical spectrum with multisystemic involvement in addition to neurologic manifestation ({3:Ritter et al., 2018})." +615830,"Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by {2:Cao et al., 2014}; {5:Sato et al., 2014})." +615833,"Developmental and epileptic encephalopathy-21 (DEE21) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life. Affected individuals have severely impaired psychomotor development with poor head control and inability to fix and follow visually. Other features may include axial hypotonia, peripheral hypertonia, and cerebral atrophy or delayed myelination on brain imaging (summary by {1:Alazami et al., 2014} and {2:Alsahli et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +615838,"Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by {1:Dallabona et al., 2016}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 ({124000})." +615846,"Aicardi-Goutieres syndrome-7 (AGS7) is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1; {147660}) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by {5:Rice et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 ({225750})." +615849,"Culler-Jones syndrome (CJS) is an autosomal dominant disorder characterized by hypopituitarism, mainly growth hormone deficiency, and/or postaxial polydactyly. The phenotype is highly variable, and some patients may have midline facial defects and developmental delay. The disorder shows incomplete penetrance and variable expressivity (summary by {5:Franca et al., 2010})." +615851,"Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by {2:Feinstein et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A ({277470})." +615859,"Developmental and epileptic encephalopathy-23 (DEE23) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life (range, 2-6 months). Affected individuals have severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features (summary by {1:Perrault et al., 2014})." +615862,"Nephronophthisis-18 is an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients (summary by {1:Failler et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 ({256100})." +615866,"Coffin-Siris syndrome 9 is characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails ({1:Tsurusaki et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900})." +615871,"Developmental and epileptic encephalopathy-24 (DEE24) is a neurologic disorder characterized by onset of refractory seizures in infancy, severely impaired global development, intellectual disability, and behavioral abnormalities. Most patients have onset of variable types of seizures between 4 and 13 months of age, but earlier onset in the first days of life has also been reported. Seizures are often triggered by fever, at least initially; status epilepticus may occur (summary by {3:Nava et al., 2014} and {2:Marini et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +615872,"Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of recurrent respiratory infections due to defective mucociliary clearance. Patients do not have situs inversus (summary by {2:Wallmeier et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}." +615873,"Helsmoortel-Van der Aa syndrome (HVDAS) is a neurodevelopmental disorder characterized by impaired intellectual development/motor delay, autism spectrum disorder, facial dysmorphisms, hypotonia, congenital heart disease, visual difficulties, and gastrointestinal issues (summary by {2:Breen et al., 2020})." +615879,"Tatton-Brown-Rahman syndrome (TBRS) is characterized by tall stature, a distinctive facial appearance, and impaired intellectual development ({6:Tatton-Brown et al., 2014}). Some patients may have increased susceptibility to the development of acute myeloid leukemia (AML; {601626}), particularly if they have DNMT3A mutations affecting the R882 residue ({3:Hollink et al., 2017})." +615887,"Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({3:Witkop, 1989})." +615889,"Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by {1:Dallabona et al., 2014})." +615892,"For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see {119530}." +615895,"Polyglucosan body myopathy-1 (PGBM1) is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by {1:Boisson et al., 2012} and {4:Nilsson et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Polyglucosan Body Myopathy\n\nSee also PGBM2 ({616199}), caused by mutation in the GYG1 gene ({603942}) on chromosome 3q24." +615897,"IMD24 is an autosomal recessive immunodeficiency characterized by the impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpesviruses, including Epstein-Barr virus (EBV) and varicella zoster virus (VZV); they also suffer from recurrent encapsulated bacterial infections, a spectrum typical of a combined deficiency of adaptive immunity (CID) (summary by {1:Martin et al., 2014})." +615905,"Developmental and epileptic encephalopathy-25 with amelogenesis imperfecta (DEE25) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in early infancy. Most patients present with seizures in the neonatal period, which is often associated with status epilepticus. However, there is phenotypic variability, and some patients have onset of seizures later in infancy. Affected individuals show global developmental delay with intellectual disability and poor speech and communication. The seizures may remit somewhat with age, but there are persistent neurologic symptoms, including ataxia, spasticity, and abnormal involuntary movements. In addition to neurologic deficits, patients also have dental anomalies with amelogenesis imperfecta (summary by {4:Thevenon et al., 2014} and {3:Schossig et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +615918,"Combined oxidative phosphorylation deficiency-21 (COXPD21) is an autosomal recessive disorder characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy and early death or by onset after 6 months of life with a milder course and longer survival (summary by {3:Zheng et al., 2021})\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +615919,"Ataxia-telangiectasia-like disorder-2 is an autosomal recessive syndrome resulting from defects in DNA excision repair. Affected individuals have a neurodegenerative phenotype characterized by developmental delay, ataxia, and sensorineural hearing loss. Other features include short stature, cutaneous and ocular telangiectasia, and photosensitivity (summary by {1:Baple et al., 2014}).\n\nFor a discussion of genetic heterogeneity of ATLD, see ATLD1 ({604391})." +615923,"Miura-type epiphyseal chondrodysplasia (ECDM) is an overgrowth syndrome characterized by tall stature, arachnodactyly of the hands, macrodactyly of the great toes, scoliosis, coxa valga, and slipped capital femoral epiphysis ({4:Miura et al., 2014}). Multiple extra epiphyses are present in the hands ({1:Boudin et al., 2018}).\n\nMutation in the NPR3 gene ({108962}) results in Boudin-Mortier syndrome (BOMOS; {619543}), a similar phenotype of tall stature, arachnodactyly, elongated great toes, and multiple extra epiphyses." +615924,"Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade. Patients may show a mild or typical lipodystrophic appearance (summary by {1:Guillen-Navarro et al., 2013})." +615926,"Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities (summary by {1:Webb et al., 2013})." +615934,"STING-associated vasculopathy with onset in infancy is an autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation. Many patients have interstitial lung disease. Tissue biopsy and laboratory findings show a hyperinflammatory state, with evidence of increased beta-interferon (IFNB1; {147640}) signaling (summary by {2:Liu et al., 2014})." +615937,"MPPH2 is an overgrowth syndrome comprising megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP; {602501}) (summary by {1:Gripp et al., 2009}).\n\nFor a discussion of genetic heterogeneity of MPPH, see {603387}." +615938,"This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by {2:Mirzaa et al., 2014}).\n\nFor a discussion of genetic heterogeneity of MPPH, see MPPH1 ({603387})." +615945,"Spinocerebellar ataxia-37 (SCA37) is an autosomal dominant neurologic disorder characterized by adult onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging (summary by {2:Seixas et al., 2017}).\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +615946,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {2:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of myopia, see {160700}." +615947,"Hyperlipoproteinemia type ID is a rare autosomal recessive disorder characterized by impaired clearance of triglyceride (TG)-rich lipoproteins in plasma, leading to severe hypertriglyceridemia (chylomicronemia). Clinical features include eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, episodes of abdominal pain, and pancreatitis. Onset usually occurs in adulthood (summary by {2:Brahm and Hegele, 2013}).\n\nFor a discussion of genetic heterogeneity of familial chylomicronemia, see {238600}." +615952,"Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by {1:Flanagan et al., 2014} and {4:Milner et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune Disease\n\nSee also ADMIO2 ({617006}), caused by mutation in the ZAP70 gene ({176947}) on chromosome 2q12." +615954,"ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia ({2:Assie et al., 2013})." +615957,"Spinocerebellar ataxia-38 is an autosomal dominant neurologic disorder characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy (summary by {1:Di Gregorio et al., 2014}).\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +615959,"Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by {1:Agrawal et al., 2014}).\n\nFor a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 ({160150})." +615960,"Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. Affected individuals have delayed motor development and often have speech delay. Cognitive function can range from normal to intellectually disabled (summary by {1:Aldinger et al., 2014})." +615961,"Acid-labile subunit deficiency is characterized by severely reduced serum insulin-like growth factor I (IGF1; {147440}) and IGF-binding protein-3 (IGFBP3; {146732}) concentrations that are incongruent with an associated mild growth retardation (height, -2 to -3 SD before and during puberty). Pubertal delay in boys and insulin insensitivity are common findings (summary by {2:Domene et al., 2011})." +615962,"Generalized glucocorticoid resistance is an autosomal dominant disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of clinical stigmata of Cushing syndrome. The clinical expression of the disease is variable. Common features include hypoglycemia, hypertension, and metabolic alkalosis. In females, overproduction of adrenal androgens has been associated with infertility, male-pattern baldness, hirsutism, and menstrual irregularities. Other features include chronic fatigue and profound anxiety (summary by {6:Chrousos et al., 1983}; {7:Donner et al., 2013})." +615969,"Alpha-fetoprotein deficiency appears to be a benign genetic trait ({3:Greenberg et al., 1992}; {5:Sharony et al., 2004})." +615972,"Nanophthalmos is characterized by axial lengths of the ocular globe that are more than 2 SDs smaller than the normal range, or less than 20 mm in adults, with a cornea and lens that are typically of normal size, associated with severe hyperopia (farsightedness) of +7.00 diopters or more. The smaller dimensions of the anterior chamber depth cause the iridocorneal angle to be typically narrow. Abnormal thickening of the scleral connective tissue is often observed (summary by {1:Awadalla et al., 2014}).\n\nFor a discussion of genetic heterogeneity of nanophthalmos, see NNO1 ({600165})." +615978,"Immunodeficiency-27B results from autosomal dominant (AD) IFNGR1 deficiency. Patients with AD IFNGR1 deficiency commonly present with recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin (BCG). In contrast with patients with complete autosomal recessive (AR) IFNGR1 deficiency (IMD27A), cells from patients with AD IFNGR1 deficiency display residual responses to IFNG in vitro, indicating that the deficiency in IFNGR1 is partial. The clinical features of AD IFNGR1 deficiency are usually less severe than those in children with complete AR IFNGR1 deficiency, and mycobacterial infection often occurs later (mean age of 13.4 years vs 1.3 years), with patients having longer mean disease-free survival. In patients with AD IFNGR1 deficiency, M. avium tends to cause unifocal or multifocal osteomyelitis. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by {1:Al-Muhsen and Casanova, 2008})." +615980,"Familial partial lipodystrophy-6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis ({4:Zolotov et al., 2017})." +615981,"BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment ({4:Innes et al., 2010}). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases ({11:Zaghloul and Katsanis, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615982,"BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS ({4:Katsanis et al., 2002}). Anosmia has been described in patients with BBS4 ({3:Iannaccone et al., 2005}), as well as polydactyly confined to the hands ({1:Carmi et al., 1995}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615983,"BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by {5:Scheidecker et al., 2015}). Patients described by {6:Young et al. (1999)} and {4:Moore et al. (2005)} with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% ({3:Li et al., 2004}) and 0.40% ({7:Zaghloul and Katsanis, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615984,"Bardet-Biedl syndrome-7 (BBS7) is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism ({2:Harville et al., 2010}). {4:Zaghloul and Katsanis (2009)} estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615985,"BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay ({1:Ansley et al., 2003}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615986,"BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation ({1:Abu-Safieh et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615987,"BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia ({5:Stoetzel et al., 2006}). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients ({5:Stoetzel et al., 2006}; {6:Zaghloul and Katsanis, 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615988,"BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities ({1:Chiang et al., 2006}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615989,"BBS12 is a clinically pleiotropic autosomal recessive ciliopathy. The patients with BBS12 studied by {5:Stoetzel et al. (2007)} and {3:Harville et al. (2010)} met the diagnostic criteria of {1:Beales et al. (1999)}, which required the presence of either 4 primary features, including rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism (in males), and/or renal anomalies; or 3 primary plus 2 secondary features (e.g., developmental delay, ataxia, cataracts).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615990,"BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa ({1:Leitch et al., 2008}; {2:Xing et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615991,"BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease ({1:Leitch et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615992,"BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene ({1:Kim et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615993,"BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient ({1:Billingsley et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615994,"Bardet-Biedl syndrome-17 (BBS17) is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17, mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation ({1:Deffert et al., 2007}; {3:Schaefer et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615995,"BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability ({1:Scheidecker et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615996,"Bardet-Biedl syndrome-19 (BBS19) is an autosomal recessive ciliopathy characterized by obesity, impaired intellectual development, polydactyly, renal failure, retinitis pigmentosa, and hypogonadism ({1:Aldahmesh et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +615999,"Familial dysalbuminemic hyperthyroxinemia (FDAH) is an autosomal dominant condition characterized by the presence of a variant serum albumin with preferential affinity for thyroxine (T4) in clinically euthyroid individuals. Individuals have consistently elevated total T4 and elevated or normal free T4 values with normal TSH levels. FDAH is the most commonly inherited euthyroid hyperthyroxinemia in Caucasian populations with an estimated prevalence of 1 in 10,000 individuals. The condition does not cause disease since the concentration of free hormone is normal, but affected individuals may be at risk for unnecessary laboratory testing and possibly even inappropriate treatment (summary by {4:Heufelder et al., 1995} and {6:Kragh-Hansen et al., 2017})." +616000,"Analbuminemia (ANALBA) is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals have few clinical symptoms other than mild edema, hypotension, fatigue, and occasionally a peculiar lower body lipodystrophy (mainly in adult females). The most common biochemical finding is a gross hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. Analbuminemia often leads to fetal or neonatal death in sibs in families of analbuminemic individuals, which may explain the rarity of the trait (summary by {5:Caridi et al., 2014})." +616001,"Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia ({305100}) or Poland syndrome ({173800}) (summary by {4:Papadimitriou et al., 2009}).\n\nFor a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see {113700}." +616002,"Focal segmental glomerulosclerosis is a form of kidney injury defined by partial sclerosis of some but not all glomeruli. It is characterized clinically by significant proteinuria with or without features of nephrotic syndrome. Some patients develop end-stage renal disease (summary by {1:Barua et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 ({603278})." +616004,"Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; {202400}) or the quality (dysfibrinogenemia) of the circulating fibrinogen, or both (hypodysfibrinogenemia). Patients with dysfibrinogenemia are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both (summary by {5:de Moerloose and Neerman-Arbez, 2009}). Reports (e.g., {8:Haverkate and Samama, 1995}) on approximately 350 families with dysfibrinogenemia revealed that approximately half of cases are clinically silent, a quarter show a tendency toward bleeding, and another quarter show a predisposition for thrombosis with or without bleeding (summary by {12:Lefebvre et al., 2004})." +616005,"IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma ({2:Elkaim et al., 2016})." +616006,"Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by {2:Alders et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 ({235510})." +616007,"CAGSSS, which comprises cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, is an autosomal recessive multisystemic disorder with a highly variable phenotypic spectrum. Not all of these features are always present, and almost all the features may present at different times and/or become more apparent with age. The skeletal features are consistent with spondyloepimetaphyseal dysplasia (SEMD) (summary by {8:Vona et al., 2018}).\n\nOne family had a distinctive presentation with infantile-onset intractable seizures and cortical abnormalities reminiscent of Leigh syndrome (see {256000}). The correlation between genotype and phenotype remains unclear, but since the IARS2 gene is involved in mitochondrial function, heterogeneous manifestations can be expected ({7:Takezawa et al., 2018})." +616025,"GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by {2:Hogrebe et al., 2016}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +616028,"Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by {4:Stittrich et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300})." +616030,"Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism is caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {2:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}." +616034,"2,4-Dienoyl-CoA reductase deficiency (DECRD) is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction due to impaired production of NADPH, which is an essential cofactor for several mitochondrial enzymes. Affected individuals have a variable phenotype: some may have severe neurologic symptoms and metabolic dysfunction beginning in early infancy, whereas others may present with more subtle features, such as childhood-onset optic atrophy or intermittent muscle weakness. The variable severity is putatively dependent on the effect of the mutation on the NADK2 enzyme. Biochemical analysis typically shows hyperlysinemia, due to defective activity of the mitochondrial NADP(H)-dependent enzyme AASS ({605113}), which is usually a benign finding. More severe cases have increased C10:2-carnitine levels, due to defective activity of the enzyme DECR (DECR1; {222745}) (summary by {1:Houten et al., 2014} and {2:Pomerantz et al., 2018})." +616038,"Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by {1:Acuna-Hidalgo et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 ({256520})." +616040,"Presynaptic congenital myasthenic syndrome-7A with distal motor neuropathy (CMS7A) is an autosomal dominant neuromuscular disorder characterized by onset of foot deformities, delayed motor development, and slowly progressive distal muscle weakness resulting in gait difficulties in early childhood. Other features may include hyporeflexia, muscle atrophy, and upper limb involvement. Electrophysiologic studies show low compound muscle action potentials (CMAPs), consistent with a distal hereditary motor neuropathy (dHMN), as well as a decremental response to repetitive stimulation, indicating presynaptic defects at the neuromuscular junction (NMJ), consistent with myasthenic syndrome (summary by {3:Fionda et al., 2021}). The complex phenotype of patients with dominant SYT2 mutations likely results from impairment of 2 fundamental functions of SYT2: (1) disturbance of calcium-dependent synchronous presynaptic neurotransmitter release, resulting in a myasthenic disorder, and (2) disruption of exocytosis and endocytosis, causing a degenerative process affecting peripheral motor nerve terminals and resulting in a motor neuropathy ({5:Maselli et al., 2021}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).\n\nFor a discussion of genetic heterogeneity of dHMN, see {182960}." +616044,"Autosomal dominant deafness-65 is characterized by postlingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal ({2:Zhang et al., 2014})." +616050,"Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system ({2:Romberg et al., 2014}; {1:Canna et al., 2014})." +616055,"For a phenotypic description and a discussion of genetic heterogeneity of episodic ataxia, see EA1 ({160120})." +616056,"Developmental and epileptic encephalopathy-26 (DEE26) is a neurologic disorder characterized by onset of variable types of seizures late in infancy or in the first years of life. Affected children show developmental delay with intellectual disability, poor speech, and behavioral abnormalities. EEG shows multifocal epileptic discharges, and may show hypsarrhythmia (summary by {1:Torkamani et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +616063,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shape, distribution, and clinical course ({2:Schamroth et al., 1997}). However, as noted by {3:Sybert (2010)}, the existence of several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial.\n\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {4:Wu et al., 2004} and {5:Zhang et al., 2012}).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}." +616081,"Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by {1:Boczonadi et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596})." +616084,"Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopenia and hypogammaglobulinemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. Death in the first decade may occur (summary by {2:Wiseman et al., 2013})." +616100,"Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation (IDAIL) is an autosomal dominant complex immune disorder with highly variable presentation and clinical manifestations. Prominent features include recurrent infections often associated with hypogammaglobulinemia, autoimmune features such as autoimmune cytopenias, and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. Laboratory studies often show lymphopenia and abnormal T and B cell subsets. The variable features are a result of impaired function of Treg cells, which play a role in immune homeostasis (summary by {1:Kuehn et al., 2014}; {4:Schwab et al., 2018}, and {2:Lopez-Nevado et al., 2021}).\n\nThe disorder shows overlapping features with autoimmune lymphoproliferative syndrome (ALPS); for a general description and a discussion of genetic heterogeneity of ALPS, see {601859}." +616121,"GVINP1, the only human ortholog of the mouse very large interferon-inducible (VLIG) genes, appears to be a pseudogene ({1:Klamp et al., 2003})." +616126,"IMD38 predisposes individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines ({1:Bogunovic et al., 2012}). Patients do not experience severe disease in response to viral infection. Affected individuals have intracranial calcification ({2:Zhang et al., 2015})." +616127,"Autosomal recessive spinocerebellar ataxia-17 (SCAR17) is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variably impaired intellectual development (summary by {2:Evers et al., 2016})." +616139,"Developmental and epileptic encephalopathy-27 (DEE27) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity associated with early-onset seizures. Additional features may include hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by {2:Platzer et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +616140,"Hypomyelinating leukodystrophy-9 is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by {2:Wolf et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}." +616145,"Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger (summary by {9:Manzke et al., 2008})." +616151,"Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {3:Manes et al., 2013}). Vitelliform macular dystrophy-4 is characterized by late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculography (EOG) ({4:Meunier et al., 2014}). In most families with VMD4 caused by compound heterozygous or homozygous mutations in IMPG1, asymptomatic heterozygous carriers have been found to have fundus changes ({3:Manes et al., 2013}; {1:Brandl et al., 2017}).\n\n{1:Brandl et al. (2017)} examined patients VMD4, caused by mutation in the IMPG1 gene, and VMD5 ({616152}), caused by mutation in the IMPG2 gene, and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above a preserved Bruch membrane/RPE on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in those with IMPG1 mutations.\n\nFor a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 ({153840})." +616152,"Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {3:Manes et al., 2013}). Vitelliform macular dystrophy-5 (VMD5) is characterized by late-onset moderate visual impairment, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculopathy (EOG) ({4:Meunier et al., 2014}).\n\n{2:Brandl et al. (2017)} examined patients with IMPG2- and IMPG1 ({602870})-associated VMD (see VMD4; {616151}) and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above the seemingly preserved Bruch membrane/RPE seen on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in those with IMPG1 mutations.\n\nFor a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 ({153840})." +616154,"Peroxisomal fatty acyl-CoA reductase-1 disorder (PFCRD) is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent ({2:Buchert et al., 2014})." +616155,"Charcot-Marie-Tooth disease type 2S is a relatively pure form of autosomal recessive axonal neuropathy characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy affecting the lower and upper limbs. Patients have decreased reflexes and variable distal sensory impairment (summary by {1:Cottenie et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 ({118210})." +616158,"Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) is characterized by severe hypotonia at birth associated with respiratory difficulties, including apnea and hypoventilation, and feeding difficulties. Many infants require ventilatory support or feeding tubes. Affected patients have global developmental delay, often never achieving walking or speech, although the severity can be variable. Additional common features may include seizures, exaggerated startle reflex, abnormal movements, and dysmorphic facial features. Brain imaging often shows hypomyelination and parenchymal atrophy. A subset of patients may have systemic features, such as cardiac defects, scoliosis, endocrine anomalies, constipation, or cryptorchidism (summary by {8:Reijnders et al., 2018})." +616165,"Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by {3:Yuen et al., 2014}). Patients with a stable and much milder disease course have been described ({2:Schatz et al., 2018}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800})." +616171,"Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by {1:Martin et al., 2014}).\n\nFor a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 ({251270})." +616172,"Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities (summary by {2:Schubert et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}." +616182,"Chronic mountain sickness (CMS), or Monge disease, represents a state of maladaptation to high-altitude hypoxia in a member of a population acclimatized to high altitudes. CMS is characterized by severe polycythemia and an array of neurologic symptoms, including headache, fatigue, somnolence, and depression. Often, people with CMS suffer from strokes and myocardial infarctions in early adulthood because of increased blood viscosity. Studies have shown that CMS is common in Andeans, found occasionally in Tibetans, and absent from the Ethiopian population living on the East African high-altitude plateau (summary by {2:Zhou et al., 2013}). Acute mountain sickness (see pulmonary edema of mountaineers, {178400}) is experienced by unacclimatized travelers exposed to high altitude." +616187,"Progressive myoclonic epilepsy-7 is a neurologic disorder characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life. Most patients become wheelchair-bound; some patients may have cognitive decline (summary by {1:Muona et al., 2015}).\n\nFor a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A ({254800})." +616192,"Combined cerebellar and peripheral ataxia with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive multisystem disorder including defects in glucose metabolism, diffuse neurodegeneration, multiple hormone deficiencies, severe growth retardation with possible growth hormone deficiencies, and subtle osseous changes suggesting early-onset bone dysplasia (summary by {5:Ozon et al., 2020})." +616198,"Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by {1:Kopajtich et al., 2014}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +616199,"Polyglucosan body myopathy-2 is an autosomal recessive disorder characterized by proximal muscle weakness of the lower limbs resulting in gait disturbances. Some patients also have involvement of the upper limbs and/or distal muscle weakness. The age at onset is highly variable, and the disorder is slowly progressive. Muscle biopsy shows accumulation of polyglucosan, which contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase (summary by {2:Malfatti et al., 2014}).\n\nFor a discussion of genetic heterogeneity of PGBM, see PGBM1 ({615895})." +616200,"{2:Ruijs et al. (2003)} reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.\n\n{1:Lessel et al. (2014)} studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma." +616202,"Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by {1:Borck et al., 2015})." +616204,"Autosomal recessive spinocerebellar ataxia-18 is a neurologic disorder characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability. Brain imaging shows progressive cerebellar atrophy (summary by {1:Hills et al., 2013})." +616209,"Autosomal dominant isolated mitochondrial myopathy is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles. Patients may also have respiratory compromise (summary by {2:Heiman-Patterson et al., 1997})." +616211,"Developmental and epileptic encephalopathy-28 (DEE28) is an autosomal recessive severe neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals have severe axial hypotonia and profoundly impaired psychomotor development. More severely affected patients have acquired microcephaly, poor or absent visual contact, and retinal degeneration; early death may occur (summary by {2:Mignot et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +616212,"Lissencephaly-6 (LIS6) is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by {2:Mishra-Gorur et al., 2014}).\n\nFor a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 ({607432})." +616214,"Insulin (INS; {176730}) is produced posttranslationally from its precursor molecule, proinsulin, by site-directed proteolysis in beta-cell granules. Conversion involves cleavage at pairs of basic residues that link both the insulin A and B chains to C-peptide. Human proinsulin conversion has a preferred sequential route, such that cleavage at the B-chain/C-peptide junction occurs first, producing des-31,32 split proinsulin as the major conversion intermediate. Under normal circumstances, proinsulin conversion is largely completed before secretion, and low plasma levels of intact proinsulin and conversion intermediates are found. Structural abnormalities in the proinsulin molecule can impair conversion, leading to the accumulation of proinsulin-like material in the circulation. Such defects show an autosomal dominant mode of inheritance and are the main cause of familial hyperproinsulinemia (summary by {16:Warren-Perry et al., 1997})." +616216,"Thrombocytopenia-5 is an autosomal dominant disorder characterized by a decreased number of platelets and a bleeding tendency. Affected individuals have an increased susceptibility to the development of hematologic malignancies, and possibly to solid neoplasms. Thrombocytopenia is usually apparent in early childhood, whereas the development of malignancy can occur throughout life (summary by {2:Zhang et al., 2015}).\n\nFor a discussion of genetic heterogeneity of thrombocytopenia, see {313900}." +616221,"Amelogenesis imperfecta type IH is characterized by hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored ({2:Wang et al., 2014} and {1:Poulter et al., 2014})." +616222,"Temple syndrome is a short stature disorder of imprinting. The cardinal features are low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height. Facial features include a broad forehead and short nose with a wide nasal tip, and the majority of patients have small hands and feet. However, many of the clinical features are nonspecific, making diagnosis difficult. In addition, isodisomy may uncover recessive disorders, which may influence the phenotype in maternal uniparental disomy of chromosome 14 (UPD14mat) cases (summary by {2:Ioannides et al., 2014})." +616227,"Congenital myasthenic syndrome-15 is one of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness (summary by {1:Cossins et al., 2013}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +616228,"Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by {1:Cossins et al., 2013}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +616229,"Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae ({2:Keller et al., 2018}; {3:Lindahl et al., 2018})." +616230,"Progressive myoclonic epilepsy-8 (EPM8) is a rare autosomal recessive form of progressive myoclonic epilepsy with phenotypic variability including ataxia and other movement disorders in addition to myoclonus (summary by {2:Godeiro et al., 2018}).\n\nFor a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A ({254800})." +616231,"Vacuolar myopathy with CASQ1 aggregates is an autosomal dominant mild muscle disorder characterized by adult onset of muscle cramping and weakness as well as increased levels of serum creatine kinase (CK). The disorder is not progressive, and some patients may be asymptomatic (summary by {2:Rossi et al., 2014})." +616239,"Combined oxidative phosphorylation deficiency-24 (COXPD24) is an autosomal recessive mitochondrial disorder with wide phenotypic variability. Most patients present in infancy with delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment due to auditory neuropathy. Less common features may include cortical blindness, renal dysfunction, and/or liver involvement, suggestive of Alpers syndrome (MTDPS4A; {203700}). Patients with the severe phenotype tend to have brain abnormalities on imaging, including cerebral atrophy and hyperintensities in the basal ganglia and brainstem, consistent with Leigh syndrome. Laboratory values may be normal or show increased lactate and evidence of mitochondrial respiratory chain defects, particularly in muscle. Some patients achieve little developmental milestones and may die in infancy or early childhood. However, some patients have a less severe phenotype manifest only by myopathy (summary by {6:Sofou et al., 2015}, {8:Vanlander et al., 2015}, and {2:Mizuguchi et al., 2017}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +616247,"LQT14 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block ({2:Crotti et al., 2013}).\n\nPatients with LQT14, LQT15 ({616249}), or LQT16 ({618782}), resulting from mutation in calmodulin genes CALM1, CALM2 ({114182}), or CALM3 ({114183}), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes ({1:Boczek et al., 2016})." +616249,"LQT15 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block ({2:Crotti et al., 2013}).\n\nPatients with LQT14 ({616247}), LQT15, or LQT16 ({618782}), resulting from mutation in calmodulin genes CALM1 ({114180}), CALM2, or CALM3 ({114183}), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes ({1:Boczek et al., 2016})." +616260,"Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome ({270150}) (summary by {1:Tenorio et al., 2014})." +616263,"Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy. However, some patients may not display all features (summary by {6:Picker-Minh et al., 2016}, {7:Sharkia et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease\n\nSee also IMNEPD2 ({619418}), caused by mutation in the YARS1 gene ({603623}) on chromosome 1p35." +616265,"Peeling skin syndrome-3 is characterized by asymptomatic lifelong and continuous shedding of the stratum corneum of the epidermis. Symptoms start during the second half of the first decade of life and consist of generalized white scaling occurring over the upper and lower extremities ({1:Cabral et al. (2012)}).\n\nFor a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 ({270300})." +616266,"CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by {1:Chong et al., 2015})." +616267,"Ataxia-oculomotor apraxia-4 (AOA4) is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by {1:Bras et al., 2015}).\n\nFor a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 ({208920})." +616268,"Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by {2:Kennedy et al., 2019})." +616270,"Amelogenesis imperfecta type IF is characterized by hypoplastic enamel of the primary and secondary dentition. The teeth may appear rough and discolored, and the tooth enamel may be absent, pitted, or of varying thickness ({1:Poulter et al. (2014)})." +616271,"3-Methylglutaconic aciduria (MGCA7) is an inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia. The phenotype is highly variable: most patients have infantile onset of a severe progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common variable features include cataracts, seizures, recurrent infections due to neutropenia, and brain imaging abnormalities (summary by {3:Wortmann et al., 2015} and {2:Saunders et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 ({250950})." +616276,"Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by {1:Brea-Calvo et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 ({607426})." +616277,"Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by {3:Peters et al., 2014})." +616280,"Charcot-Marie-Tooth disease type 2U (CMT2U) is an autosomal dominant neurologic disorder characterized by late-adult onset of distal sensory impairment resulting in distal muscle weakness and atrophy affecting the upper and lower limbs. The disorder is slowly progressive (summary by {1:Gonzalez et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 ({118210})." +616281,"Neurodevelopmental disorder with spastic paraplegia and microcephaly (NEDSPM) is an autosomal recessive neurologic syndrome characterized by delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech. More severely affected individuals show poor overall growth with progressive microcephaly, axial hypotonia, oromotor dysfunction with drooling, joint contractures, and spastic paraplegia resulting in walking difficulties. Some patients may develop seizures; nonspecific dysmorphic features have also been reported (summary by {2:Hengel et al., 2018} and {5:Ouyang et al., 2019})." +616286,"Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita (AMC), is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period ({2:Laquerriere et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 ({253310})." +616287,"Lethal congenital contracture syndrome-8 (LCCS8), an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period ({3:Laquerriere et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 ({253310})." +616291,"Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by {2:Guissart et al., 2015}). Some patients with SLC9A1 mutations may not have deafness ({4:Iwama et al., 2018})" +616294,"Cole-Carpenter syndrome-2 (CLCRP2) is a skeletal dysplasia associated with low bone mass or an osteogenesis imperfecta-like syndrome. It is characterized by bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features such as marked frontal bossing, midface hypoplasia, and micrognathia (summary by {3:Takeyari et al., 2018})." +616298,"Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by {1:Jang et al., 2015}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 ({182250})." +616313,"Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by {2:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +616314,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +616321,"Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +616322,"Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by {5:Sine et al., 2003} and {2:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +616323,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +616324,"Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by {4:Sine et al., 2003} and {1:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +616325,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients may show a favorable response to amifampridine (summary by {2:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +616326,"Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by {4:Engel et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +616330,"Congenital myasthenic syndrome-18 is an autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia (summary by {1:Shen et al., 2014}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +616331,"Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by {1:Bunn et al., 2015}). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 ({5:White et al., 2015}; {1:Bunn et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Robinow syndrome, see RRS ({268310})." +616339,"Developmental and epileptic encephalopathy-29 (DEE29) is an autosomal recessive neurologic disorder characterized by the onset of refractory myoclonic seizures in the first months of life. Affected individuals have poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation (summary by {2:Simons et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +616340,"DFNA67 is a form of nonsyndromic sensorineural hearing loss. Onset ranges from the first to the fourth year of life. Hearing loss initially affects high frequencies, with variable progression. There are no vestibular symptoms ({2:Xing et al., 2015}; {1:Thoenes et al., 2015})." +616341,"Developmental and epileptic encephalopathy-30 (DEE30) is a severe neurologic disorder characterized by onset of refractory seizures soon after birth or in the first months of life. Seizure types include early myoclonic encephalopathy (EME), Ohtahara syndrome, and infantile spasms; most are refractory to treatment. Patients with earlier seizure onset make essentially no developmental progress and may die in infancy. Those with later onset show profoundly impaired global development with absent speech, poor eye contact, inability to walk, behavioral abnormalities, and feeding difficulties that may require a feeding tube (summary by {1:Hansen et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +616342,"Lissencephaly-7 with cerebellar hypoplasia (LIS7) is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy ({2:Magen et al., 2015}).\n\nFor a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 ({607432})." +616346,"Developmental and epileptic encephalopathy-31 (DEE31) is a neurologic disorder characterized by the global developmental delay apparent in early infancy. Most individuals have onset of various types of refractory seizures in the first months or years of life, which exacerbates the psychomotor deficits. Patients have hypotonia and profound intellectual disability with absent speech and inability to walk or ataxic gait. Some patients may have additional syndromic features, including dysmorphic features or cortical visual impairment (summary by the {3:EuroEPINOMICS-RES Consortium et al., 2014} and {2:Deciphering Developmental Disorders Study, 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +616353,"Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by {2:Tummala et al., 2015}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550})." +616354,"Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy (summary by {4:Thomas et al., 2014})." +616361,"Parkinson disease-21 (PARK21) is an autosomal dominant form of typical adult-onset Parkinson disease characterized by tremor, rigidity, bradykinesia, postural instability, and good response to levodopa treatment (summary by {3:Vilarino-Guell et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD ({168600})." +616364,"White-Sutton syndrome (WHSUS) is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and a characteristic constellation of dysmorphic facial features. Additional features may include hypotonia, sensorineural hearing impairment, visual defects, joint laxity, and gastrointestinal difficulties, such as poor feeding (summary by {8:White et al., 2016}). A significant number of patients have autism or autistic features (summary by {6:Stessman et al., 2016})." +616366,"Developmental and epileptic encephalopathy-32 (DEE32) is a neurologic disorder characterized by the onset of various seizure types, including febrile and myoclonic seizures, between about 5 and 17 months of age after normal early development. Thereafter, patients manifest global developmental delay or developmental regression with impaired intellectual development and poor or absent speech. Some may be able to attend special schools. Other features include ataxia with difficulty walking, deficient fine motor skills, tremor, and dysarthria. The seizures are initially refractory in some cases, but may remit later during childhood; however, neurologic deficits persist (summary by {2:Syrbe et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +616370,"MMDS4 is an autosomal recessive neurodegenerative disorder that usually results in death in early childhood. Affected individuals have normal development for the first months of life, but thereafter show progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus. Patients regress to a vegetative state with lack of eye contact and speech, and poor feeding. Most patients have optic atrophy, and some may develop seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased CSF glycine and decreased activity of mitochondrial complex II; there may be additional biochemical evidence of mitochondrial dysfunction (summary by {2:Alaimo et al., 2018}).\n\nFor a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 ({605711})." +616390,"Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by {1:Faghri et al., 2008}).\n\nFor a discussion of genetic heterogeneity of TTD, see {601675}." +616392,"Dendritic epidermal T cells express an invariant V-gamma-5/V-delta-1 T-cell receptor and account for 95% of all resident T cells in mouse epidermis. Skint1, which is expressed specifically in keratinocytes and thymic epithelial cells, is critical for development of dendritic epidermal T cells in mice. In contrast to the functional Skint1 gene in rodents, humans and all hominoid primates have an inactivated SKINTL pseudogene and lack authentic dendritic epidermal T cells (summary by {3:Mohamed et al., 2015})." +616395,"Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by {1:Faghri et al., 2008}).\n\nFor a discussion of genetic heterogeneity of TTD, see {601675}." +616398,"Myoclonic dystonia-26 (DYT26) is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. The disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. Dystonia dominates the clinical picture (summary by {1:Mencacci et al., 2015})." +616399,"Brugada syndrome is characterized by ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}).\n\nFor a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144})." +616407,"Brown syndrome, originally described by {1:Brown (1950)}, is characterized by the inability to elevate the adducted eye actively or passively. There is less elevation deficit with the eye in midposition, and minimal or no deficit in abduction. There can also be divergence on upgaze, downshoot, or widening of the palpebral fissure on adduction, primary hypotropia, and anomalous head posture. Brown syndrome accounts for approximately 2% of strabismus cases. Ten percent of cases are bilateral, and left- and right-sided unilateral cases are equal in frequency. There is no gender predilection (summary by {3:Heidary et al., 2012})." +616409,"Developmental and epileptic encephalopathy-33 (DEE33) is a neurologic disorder characterized by the onset of various types of seizures in the first months of life. Affected individuals show severe global developmental delay with impaired intellectual development and poor or absent speech (summary by {1:de Ligt et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +616411,"Dystonia-27 is an autosomal recessive neurologic disorder characterized by onset of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs in the first 2 decades of life (summary by {1:Zech et al., 2015})." +616413,"Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by {3:Legati et al., 2015}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600})." +616414,"Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by {1:Watkin et al., 2015})." +616415,"Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by {2:Weren et al., 2015}).\n\nFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 ({175100})." +616418,"HOMGSMR1 is characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development (summary by {1:Arjona et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Hypomagnesemia, Seizures, and Mental Retardation\n\nHOMGSMR2 ({618314}) is caused by mutation in the ATP1A1 gene ({182310}) on chromosome 1p13." +616420,"Hypomyelinating leukodystrophy-10 is an autosomal recessive neurologic disorder characterized by postnatal progressive microcephaly, severely delayed psychomotor development, and hypomyelination on brain imaging (summary by {1:Nakayama et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}." +616421,"Myoclonic-atonic epilepsy (MAE) is an autosomal dominant disorder characterized by onset of absence and myoclonic seizures in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of impaired intellectual development following seizure onset (summary by {1:Carvill et al., 2015})." +616425,"46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see {163950}) (summary by {5:Mann et al., 1983}).\n\nFor a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 ({400044})." +616433,"Immunodeficiency-40 is an autosomal recessive primary form of combined immunodeficiency mainly affecting T-cell number and function, with other more variable defects in B-cell and NK-cell function. Patients have onset of severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation (summary by {1:Dobbs et al., 2015})." +616435,"Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by {1:Hira et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Fanconi anemia, see FANCA ({227650})." +616436,"Familial temporal lobe epilepsy-7 is a form of autosomal dominant lateral temporal lobe epilepsy characterized by focal seizures with prominent auditory symptoms (summary by {1:Dazzo et al., 2015}).\n\nFor a general description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see {600512}." +616437,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by {5:Rea et al., 2014}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550})." +616439,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. The phenotype is highly variable (summary by {2:Freischmidt et al., 2015}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550})." +616449,"Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by {1:Basel-Vanagaite et al., 2015})." +616451,"Spastic paraplegia-74 (SPG74) is an autosomal recessive neurologic disorder characterized by onset of slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy in the first decade (summary by {1:Lossos et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +616452,"B-cell expansion with NFKB and T-cell anergy is an autosomal dominant disorder characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy (summary by {5:Snow et al., 2012})." +616457,"Developmental and epileptic encephalopathy-50 (DEE50) is an autosomal recessive progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset refractory seizures, severe developmental regression, and normocytic anemia. Onset is within the first months or years of life. Evidence suggests that affected children can have a favorable response to treatment with uridine (summary by {1:Koch et al., 2017}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +616462,"The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects ({1:Weaver et al., 2015})." +616479,"Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by {1:Reyes et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 ({258450})." +616481,"Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by {1:Jeanson et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +616483,"Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by {1:Haack et al., 2015}).\n\nFor a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 ({615438})." +616486,"Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) is an autosomal recessive disorder characterized by a spectrum of neurologic abnormalities apparent from early infancy. Affected individuals have impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death (summary by {3:Harel et al., 2018})." +616487,"Autosomal recessive generalized intermediate epidermolysis bullosa simplex 5D (EBS5D) is characterized by generalized skin blistering that heals with scarring and hyperpigmentation. Nail dystrophy is severe. Mucous membranes, heart, and muscle are spared ({1:Gostynska et al., 2015}).\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760})." +616488,"Hereditary sensory and autonomic neuropathy type VIII is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production (summary by {1:Chen et al., 2015}).\n\nFor a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1A ({162400})." +616489,"Silver-Russell syndrome-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay ({2:Begemann et al., 2015}; {7:Yamoto et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 ({180860})." +616490,"Joubert syndrome-23 is an autosomal recessive neurodevelopmental disorder characterized by delayed development, abnormal eye movements, and abnormal breathing pattern associated with a characteristic hindbrain malformation apparent on brain imaging and known as the 'molar tooth sign.' Compared to other forms of Joubert syndrome, the phenotype is relatively mild, and other organ systems are generally not affected (summary by {1:Bachmann-Gagescu et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}." +616494,"Hypomyelinating leukodystrophy-11 (HLD11) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by {2:Thiffault et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}." +616500,"Mitochondrial complex IV deficiency nuclear type 9 (MC4DN9) is an autosomal recessive multisystem metabolic disorder characterized by neonatal hypertrophic cardiomyopathy resulting in death in early infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Huigsloot et al., 2011}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +616501,"Mitochondrial complex IV deficiency nuclear type 13 (MC4DN13) is an autosomal recessive metabolic disorder characterized by the onset of hypertrophic cardiomyopathy soon after birth. Affected individuals have hypotonia, weakness, and failure to thrive, resulting in death in infancy. Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Baertling et al., 2015}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +616505,"Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals may also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements such as ataxia, dysmetria, and myoclonus (summary by {1:Abrams et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A ({601152})." +616510,"GNPNAT1 ({EC 2.3.1.4}) has a key role in de novo biosynthesis of UDP-N-acetyl-glucosamine, a donor nucleotide sugar for protein N-linked glycosylation. GNPNAT1 catalyzes the transfer of an acetyl group from acetyl-CoA (AcCoA) to the primary amine of glucosamine-6-phosphate (GlcN6P), producing N-acetylglucosamine and CoA (summary by {3:Wang et al., 2008})." +616516,"Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by {1:Jimenez-Escrig et al., 2012}).\n\nFor a discussion of genetic heterogeneity of EDMD, see {310300}." +616517,"Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by {2:Kohl et al., 2015}).\n\nFor a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 ({216900})." +616531,"Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) is a severe autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, axial hypotonia, and peripheral spasticity and hyperreflexia. Affected individuals may have feeding difficulties with gastroesophageal reflux and poor overall growth, as well as microcephaly and nonspecific dysmorphic facial features. Additional features may include nystagmus, inability to walk, ataxia, abnormal movements, and seizures. Brain imaging shows hypomyelination with decreased white matter volume, cerebral and cerebellar atrophy, and thin corpus callosum. Polymicrogyria may be observed in rare cases. Some patients have a primary immunodeficiency or gastrointestinal disturbances similar to inflammatory bowel disease (summary by {3:Verdura et al., 2021}, {2:Salter et al., 2021})." +616534,"Nonmedullary thyroid cancer (NMTC) refers to neoplasms originating from the thyroid follicular cells and represents 80 to 95% of all thyroid cancers. Approximately 5% of NMTC occurs on the background of a familial predisposition. Although papillary thyroid carcinoma (PTC) is usually the most frequent thyroid lesion in NMTC families, multinodular goiter (MNG) and follicular thyroid adenoma also occur (summary by {3:Pereira et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550})." +616535,"Nonmedullary thyroid cancer (NMTC) comprises cancer of follicular cell origin and accounts for more than 95% of all cases of thyroid cancer. Familial NMTC accounts for 3 to 9% of all cases of thyroid cancer and has an autosomal dominant mode of inheritance. Most cases of familial NMTC are papillary thyroid cancer (PTC), which is the most common type of thyroid cancer (summary by {1:Gara et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 ({188550})." +616538,"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by {1:Geis et al., 2013} and {3:Riemersma et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670})." +616539,"Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay (PNSED) is an autosomal recessive multisystemic disorder with highly variable manifestations, even within the same family. Some patients present in infancy with hypotonia and global developmental delay with poor or absent motor skill acquisition and poor growth, whereas others present as young adults with exercise intolerance and muscle weakness. All patients have signs of a peripheral neuropathy, usually demyelinating, with distal muscle weakness and atrophy and distal sensory impairment; many become wheelchair-bound. Additional features include spasticity, extensor plantar responses, contractures, cerebellar signs, seizures, short stature, and rare involvement of other organ systems, including the heart, pancreas, and kidney. Biochemical analysis may show deficiencies in mitochondrial respiratory complex enzyme activities in patient tissue, although this is not always apparent. Lactate is frequently increased, suggesting mitochondrial dysfunction ({3:Powell et al., 2015}; {1:Argente-Escrig et al., 2022}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +616541,"In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients ({4:Murray et al., 2015}; {1:Bee et al., 2015}; {2:de Bruin et al., 2015}; {3:Guo et al., 2015})." +616546,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {2:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500})." +616549,"Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by {1:Alazami et al., 2015}).\n\nFor a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 ({118100})." +616553,"Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by {2:Kocak et al., 2014}).\n\nFor a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ({127550})." +616559,"Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by {1:Yamamoto et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950})." +616564,"Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by {2:Yamamoto et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950})." +616570,"Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by {1:Drury et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 ({214150})." +616576,"Common variable immunodeficiency-12 with autoimmunity (CVID12) is an autosomal dominant complex immunologic disorder with multisystem involvement. CVID12 is mainly a primary immunodeficiency characterized by recurrent infections and associated with hypogammaglobulinemia. Notably, about half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. A smaller percentage of affected individuals (less than 20%) develop cancer, most commonly solid tumors, including lymphoma. Age at onset and disease severity are highly variable, even within the same family. There is also incomplete penetrance, such that mutation carriers may be asymptomatic, even if they have hypogammaglobulinemia. The gene involved, NFKB1, encodes a transcription factor that regulates the expression of target genes involved in the immune system, thus defining the phenotype as a disorder of immune dysregulation (summary by {2:Fliegauf et al., 2015}; {3:Lorenzini et al., 2020}).\n\nFor a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 ({607594})." +616577,"Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) is an autosomal recessive disorder characterized by severe neurologic impairment including impaired intellectual development, epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia ({2:Tanaka et al., 2015})." +616579,"Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features (NEDHILD) is a rare neurodevelopmental disorder associated with impaired intellectual development, speech and language impairment, microcephaly, seizures, hypotonia, ophthalmologic issues, constipation/gastroesophageal reflux, and behavioral problems, including autism and sleep disturbances (summary by {2:Garrity et al., 2021})." +616583,"Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by {4:Nishimura et al., 1998})." +616586,"Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by {1:Coutelier et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A ({270800})." +616589,"Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by {2:Stittrich et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 ({100300})." +616592,"Kosaki overgrowth syndrome (KOGS) is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, and have large hands and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging ({2:Takenouchi et al., 2015})." +616602,"Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures ({2:Twigg et al., 2015}).\n\nFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100}).\n\nStructural brain anomalies with impaired intellectual development and craniosynostosis (BAIDCS; {618736}) is an allelic disorder." +616603,"Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes ({1:Fischer-Zirnsak et al., 2015}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 ({123700})." +616606,"Ring chromosome 14 syndrome is characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features. Additional variable features include hypotonia and retinopathy (summary by {3:Imataka et al., 2013} and {2:Giovannini et al., 2013})." +616617,"Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, {214100}), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities ({2:Ratbi et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Heimler syndrome, see HMLR1 ({234580})." +616622,"Immunodeficiency-42 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to mycobacterial and candidal infections beginning in infancy. Patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections (summary by {2:Okada et al., 2015})." +616625,"Charcot-Marie-Tooth disease type 2W is an autosomal dominant neurologic disorder characterized by a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment, although most patients also have upper limb involvement. The age at onset is highly variable, ranging from childhood to late adulthood (summary by {1:Safka Brozkova et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 ({118210})." +616629,"Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by {2:Bizet et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see {266900}." +616631,"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({1:Schamroth et al., 1997}). However, as noted by {2:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.\n\nMutations in the FDPS gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP) and nonactinic disseminated superficial porokeratosis (DSP).\n\nFor a discussion of genetic heterogeneity of porokeratosis, see {174800}." +616632,"Seizures, cortical blindness, and microcephaly syndrome (SCBMS) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, and cortical blindness. Affected individuals also tend to show poor overall growth with short stature (summary by {2:Ercan-Sencicek et al., 2015})." +616636,"Immunodeficiency-44 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by {2:Shahni et al., 2015})." +616638,"Smith-Kingsmore syndrome is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip ({6:Smith et al., 2013}; {1:Baynam et al., 2015})." +616640,"Progressive myoclonic epilepsy-10 is an autosomal recessive neurodegenerative disorder characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life. The severity is variable, but some patients may become mute and bedridden with psychosis (summary by {2:Turnbull et al., 2012}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A ({254800})." +616645,"Developmental and epileptic encephalopathy-34 (DEE34) is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in the first year of life after normal early development. Affected children show developmental regression and are severely impaired globally (summary by {1:Stodberg et al., 2015}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +616647,"Developmental and epileptic encephalopathy-35 (DEE35) is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. Many patients die in early childhood (summary by {1:Kevelam et al., 2015})\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +616648,"Optic atrophy-8 (OPA8) is an autosomal dominant neurologic disorder characterized by progressive visual loss during the first or second decade of life. Some patients may have additional features, mainly late-onset sensorineural hearing loss.\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500})." +616649,"Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by {6:Perrotta et al., 2008}).\n\nFor a general description and a discussion of genetic heterogeneity of hereditary spherocytosis, see {182900}." +616651,"Roifman syndrome is a rare autosomal recessive disorder characterized by growth retardation, spondyloepiphyseal dysplasia, cognitive delay, facial dysmorphism, and antibody deficiency (summary by {5:Merico et al., 2015})." +616652,"Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A; {118220}), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS; {610883}), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by {5:Yuan et al., 2015})." +616654,"Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by {2:Huppke et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}." +616657,"Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by {5:Srour et al., 2015} and {3:Heimer et al., 2015})." +616668,"Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by {1:Montecchiani et al., 2016})\n\nFor a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 ({118210})." +616669,"Immunodeficiency-45 (IMD45) is an autosomal recessive immunologic disorder with specific clinical features. Two affected children reported to date developed an acute and severe reaction to vaccination with live MMR. Features included fever, rash, lymphadenopathy, irritability or encephalopathy, and seizures. One patient developed hemophagocytic lymphohistiocytosis (HLH) with subsequent recovery, whereas the other eventually died. Laboratory studies show impaired response to alpha-IFN (see {147660}) and impaired type I interferon signature after stimulation (summary by {1:Duncan et al., 2015} and {2:Passarelli et al., 2020})." +616672,"Combined oxidative phosphorylation deficiency-27 (COXPD27) is an autosomal recessive multisystem disorder characterized mainly by neurologic features, including delayed development, seizures, abnormal movements, and neurologic regression. Age at onset, ranging from infancy to late childhood, and severity are variable. Other features include hypotonia, myoclonus, brain imaging abnormalities, and evidence of mitochondrial dysfunction in skeletal muscle. Liver dysfunction has also been reported (summary by {3:Samanta et al., 2018}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +616680,"Spastic paraplegia-75 (SPG75) is an autosomal recessive, slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood (summary by {1:Lossos et al., 2015}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A ({270800})." +616682,"Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from early infancy, impaired intellectual development, behavioral problems, poor or absent speech, seizures, dysmorphic facial features with macro- or microcephaly, and skeletal abnormalities, including scoliosis and delayed bone age. Other features may include hypotonia, gastrointestinal problems, and exostoses (summary by {3:Gentile et al., 2019})." +616683,"Hypomyelinating leukodystrophy-12 (HLD12) is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by {1:Edvardson et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.\n\nIn a review of the pathogenesis of disorders with prominent dystonia or opisthotonic posturing as a feature, {3:Monfrini et al. (2021)} classified HLD12 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS11." +616684,"Charcot-Marie-Tooth disease type 4K is an autosomal recessive demyelinating peripheral neuropathy characterized by onset in the first decade of distal muscle weakness and atrophy associated with impaired distal sensation. Both upper and lower limbs are affected. Affected individuals may also have nystagmus and late-onset cerebellar ataxia. Laboratory studies show increased serum lactate and isolated mitochondrial complex IV deficiency (summary by {1:Echaniz-Laguna et al., 2013}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A ({214400})." +616687,"Charcot-Marie-Tooth disease type 2Y is an autosomal dominant peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss. Most patients have involvement of both the lower and upper limbs. The age at onset and the severity of the disorder are highly variable (summary by {1:Gonzalez et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 ({118210})." +616688,"Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant axonal peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood. Rare occurrence of global developmental delay with impaired intellectual development or learning difficulties has been observed. In some instances, the same mutation may result in different phenotypic manifestations (CMT2Z or DIGFAN), which highlights the clinical spectrum associated with MORC2 mutations and may render the classification of patients into one or the other disorder challenging (summary by {6:Sevilla et al., 2016}, {2:Ando et al., 2017}, {4:Guillen Sacoto et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 ({118210})." +616689,"In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by {7:Rapetti-Mauss et al., 2015}).\n\nFor discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 ({194380})." +616708,"DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by {1:DeSanto et al., 2015})." +616716,"Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by {2:Wanders and Waterham, 2005}).\n\nFor a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}." +616719,"Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by {4:Schmidt et al., 2015}).\n\nThe phenotype is highly variable: all patients appear to have episodic and severe liver dysfunction in early childhood that tends to resolve with age. Affected individuals also show mild developmental or language delay and/or later onset of variable neurologic features, such as motor dysfunction (summary by {1:Lenz et al., 2018})." +616720,"Congenital myasthenic syndrome-19 (CMS19) is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by {4:Logan et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +616721,"Congenital disorder of glycosylation type IIn (CDG2N) is an autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. Serum transferrin analysis shows a CDG type II pattern (summary by {1:Boycott et al., 2015} and {3:Park et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CDG type II, see CDG2A ({212066})." +616726,"Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by {2:Olbrich et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +616730,"Nephrotic syndrome type 11 (NPHS11) is an autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype ({3:Miyake et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300})." +616734,"Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by {1:Isrie et al., 2015}).\n\nFor a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 ({156610})." +616736,"Hereditary essential tremor-5 is an autosomal dominant neurologic disorder characterized by kinetic, intention, and/or postural tremor mainly affecting the upper limbs. The age at onset and severity are highly variable, even within families (summary by {1:Hor et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 ({190300})." +616737,"Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by {1:Martinelli et al., 2018})." +616738,"Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by {1:Niihori et al., 2015}).\n\nFor a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 ({605432})." +616744,"Familial Behcet-like autoinflammatory syndrome-1 (AIFBL1) is an autosomal dominant monogenic autoinflammatory disease characterized predominantly by painful and recurrent mucosal ulceration affecting the oral mucosa, gastrointestinal tract, and genital areas. The onset of symptoms is usually in the first decade, although later onset has been reported. Additional more variable features include skin rash, uveitis, and polyarthritis, consistent with a systemic hyperinflammatory state. Many patients have evidence of autoimmune disease. Rare patients may also have concurrent features of immunodeficiency, including recurrent infections with low numbers of certain white blood cells or impaired function of immune cells. The disorder results from a failure of mutant TNFAIP3 to suppress the activation of inflammatory cytokines in the NFKB (see {164011}) signaling pathway; treatment with tumor necrosis factor (TNFA; {191160}) inhibitors may be beneficial. Although some of the clinical features of AIFBL1 resemble those of Behcet disease ({109650}), the more common form of Behcet disease is believed to be polygenic, typically shows later onset in early adulthood, and has symptoms usually restricted to the mucosa (summary by {5:Zhou et al., 2016}; {1:Aeschlimann et al., 2018}, and {4:Kadowaki et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of AIFBL\n\nSee also AIFBL2 ({301074}), caused by mutation in the ELF4 gene ({300775}) on chromosome Xq26." +616749,"Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by {2:Guimier et al., 2015}).\n\nFor a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 ({306955})." +616756,"Spastic paraplegia and psychomotor retardation with or without seizures is an autosomal recessive complex neurodevelopmental disorder with onset in infancy. Affected children show hypotonia followed by severely impaired global development and significant motor disability. Most develop seizures in childhood and have speech delay. Other features, such as ocular abnormalities, foot deformities, hypoplasia of the corpus callosum, and decreased white matter, are more variable (summary by {2:Hollstein et al., 2015})." +616779,"Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 is a disorder of the small arterial vessels of the brain characterized by stroke, transient ischemic attacks (TIA), cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities and sometimes associated with multiple lacunar infarcts and microbleeds. Dilated perivascular spaces with a typical status cribrosum characterized by innumerable dilated Virchow-Robin spaces and resulting in a cribriform change in basal ganglia occur in most patients. CADASIL2 differs from CADASIL1 ({125310}) by a later age of onset ({1:Verdura et al., 2015}).\n\nFor a discussion of genetic heterogeneity of CADASIL, see {125310}." +616781,"Joubert syndrome-25 is an autosomal recessive ciliopathy characterized by delayed psychomotor development and oculomotor apraxia associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. The clinical manifestations appear to be confined to the neurologic system, as patients tend not to have additional renal, liver, or limb involvement (summary by {1:Srour et al., 2015})\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}." +616784,"Joubert syndrome-26 (JBTS26) is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by {2:Sanders et al., 2015}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}." +616789,"Impaired intellectual development and distinctive facial features with or without cardiac defects (MRFACD) is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries (summary by {1:Adegbola et al., 2015})." +616792,"For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 ({256700})." +616794,"Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by {1:Kishita et al., 2015}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +616795,"Spinocerebellar ataxia-42 is an autosomal dominant neurologic disorder characterized predominantly by gait instability and additional cerebellar signs such as dysarthria, nystagmus, and saccadic pursuits. The age at onset and severity of the disorder is highly variable; it is slowly progressive (summary by {1:Coutelier et al., 2015}).\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +616801,"Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by {2:Shamseldin et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 ({615419})." +616803,"Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by {4:Nesbitt et al., 2015})." +616806,"Wilms tumor is the most common renal tumor of childhood, occurring with an incidence of 1 in 10,000. It is often described as an embryonal tumor, as it arises from embryonal cells in which growth and/or differentiation have become dysregulated during development (summary by {1:Mahamdallie et al., 2015}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Wilms tumor, see WT1 ({194070})." +616809,"Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by {1:Ilkovski et al., 2015}). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\n\nFor a discussion of genetic heterogeneity of HPMRS, see HPMRS1 ({239300}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +616812,"Autosomal recessive limb-girdle muscular dystrophy-25 (LGMDR25) is characterized by slowly progressive onset of proximal lower limb weakness in adulthood. Affected individuals also develop cardiac arrhythmias resulting in syncopal episodes as young adults or later in life (summary by {2:Schindler et al., 2016}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy (LGMD), see LGMD2A ({253600})." +616814,"Maternal genes play a critical role in the very early stages of embryonic development because of the lag in transcribing genes derived from the male pronucleus. TLE6 mutations are a rare cause of human female-limited fertility and appear to represent the earliest known human embryonic lethality that is due to a single gene mutation. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation is severely impaired ({1:Alazami et al., 2015}).\n\n<Subhead> Genetic Heterogeneity of Preimplantation Embryonic Lethality\n\nPreimplantation embryonic lethality-2 (PREMBL2; {617234}) is caused by mutation in the PADI6 gene ({610363}) on chromosome 1p36." +616827,"Autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue (MDRCMTT) is an autosomal recessive muscle disorder characterized by onset of severe and progressive muscle weakness and atrophy in childhood, resulting in loss of independent ambulation. Patients may also have dilated cardiomyopathy and have macroglossia with a small tip, resulting in a triangular appearance of the tongue (summary by {1:Warman Chardon et al., 2015})." +616828,"Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by {1:Jansen et al., 2016}).\n\nFor a general discussion of CDGs, see CDG1A ({212065})." +616829,"Congenital disorder of glycosylation type IIp (CDG2P) is an autosomal recessive metabolic disorder characterized by mild liver dysfunction, which may be found incidentally during adolescence. Laboratory abnormalities include elevated liver enzymes and alkaline phosphatase, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by {2:Jansen et al., 2016}).\n\nFor an overview of congenital disorders of glycosylation, see CDG1A ({212065}) and CDG2A ({212066})." +616831,"Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures ({3:Luscan et al., 2014}; {2:Lumish et al., 2015})" +616833,"Paget disease of bone-6 is an autosomal dominant disorder characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. A subset of patients can develop coronary artery disease and/or malignant giant cell tumor (GCT) of the bone, which arises within the Paget bone lesions (summary by {1:Divisato et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see {167250}." +616834,"Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements ({2:He et al., 2014})." +616840,"Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by {1:Lesage et al., 2016})." +616843,"Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPHM6, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by {1:Fotiou et al., 2015}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see {153100}." +616852,"Scapulohumeroperoneal myopathy is an autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. Onset is usually in the first decade and can be as early as infancy, although some patients do not notice symptoms until young adulthood. There is marked variability in severity (summary by {2:Zukosky et al., 2015})." +616854,"EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; {2:Royer-Bertrand et al., 2015})." +616859,"Childhood-onset spasticity with hyperglycinemia is an autosomal recessive disorder characterized by onset of slowly progressive spasticity that results in impaired gait in the first decade of life. Imaging of the central nervous system shows leukodystrophy and/or lesions in the upper spinal cord. More variable features include visual defects and mild learning disabilities. Serum glycine is increased, but CSF glycine is only mildly increased or normal; serum lactate is normal. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including SPAHGC, appear to result from defects of mitochondrial lipoate biosynthesis (summary by {1:Baker et al., 2014})." +616860,"Sideroblastic anemia-3 is an autosomal recessive hematologic disorder characterized by onset of anemia in adulthood. Affected individuals show signs of systemic iron overload, and iron chelation therapy may be of clinical benefit (summary by {3:Liu et al., 2014}).\n\nFor a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 ({300751})." +616863,"Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging (summary by {1:Fountain et al., 2019})." +616866,"Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by {5:Knierim et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone Fractures\n\nSee also SMABF2 ({616867}), caused by mutation in the ASCC1 gene ({614215}) on chromosome 10q22." +616867,"Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by {3:Knierim et al., 2016}).\n\nFor a discussion of genetic heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 ({616866})." +616871,"Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS; {614286}) and/or acute myeloid leukemia (AML; {601626}). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by {1:Lewinsohn et al., 2016}). Patients may show a favorable response to treatment with lenalidomide (summary by {2:Polprasert et al., 2015})." +616873,"Common variable immunodeficiency-13 is an autosomal dominant primary immunodeficiency disorder characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells. The age at onset of clinical features can range from infancy to adulthood, and some patients may have a mild disorder or even remain clinically asymptomatic (summary by {3:Kuehn et al., 2016}).\n\nFor a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 ({607594})." +616878,"Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) is an autosomal recessive disorder characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system. Affected individuals usually present in childhood with acute encephalomyopathic features, including rhabdomyolysis, hypotonia, and neurologic regression, although most patients have delayed psychomotor development before the acute onset. The overall disease course is characterized by progressive neurodegeneration with epilepsy, cognitive impairment, pyramidal and cerebellar signs, and loss of expressive language. Cardiac involvement with severe arrhythmias is a consistent and potentially life-threatening manifestation (summary by {2:Lalani et al., 2016} and {1:Kremer et al., 2016})." +616881,"Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by {1:Edvardson et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}." +616882,"Advanced sleep phase syndrome is characterized by early sleep time (sleep onset) and early morning awakening (sleep offset) (summary by {1:Zhang et al., 2016}).\n\nFor a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 ({604348})." +616892,"Nephrotic syndrome type 12 is an autosomal recessive renal disorder caused by defects in the renal glomerular filter. Affected individuals have onset of progressive renal failure in the first years of life. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) (summary by {1:Braun et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300})." +616893,"Nephrotic syndrome type 13 is a steroid-resistant form of nephrotic syndrome with focal segmental glomerulosclerosis ({1:Braun et al., 2016})." +616894,"The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by {1:White et al., 2016}).\n\nFor a discussion of genetic heterogeneity in Robinow syndrome, see RRS ({268310})." +616897,"Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly ({1:Symoens et al., 2015})." +616900,"Infantile hypotonia with psychomotor retardation and characteristic facies-3 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Most affected individuals show very poor, if any, normal psychomotor development, poor speech, and inability to walk independently (summary by {2:Bhoj et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 ({615419})." +616903,"THPM2 is associated with severe hematopoietic toxicity when patients are treated with standard doses of thiopurines, a class of antineoplastic/immunosuppressant agents that consists of mercaptopurine, thioguanine, and azathioprine. Thiopurines are prodrugs that require extensive metabolism in order to exert their cytotoxic action. Thiopurines are converted into cytotoxic thioguanine nucleotides (TG), which are incorporated into DNA and cause cell death. NUDT15 inactivates thiopurine metabolites and negatively regulates cytotoxicity (summary by {1:Moriyama et al., 2016}). The NUDT15 deficiency trait follows an additive genetic mode of inheritance, with the severity of the phenotype proportional to the cumulative number of risk alleles in NUDT15.\n\nFor a discussion of genetic heterogeneity of poor thiopurine metabolism, see THPM1 ({610460})." +616907,"Spastic paraplegia-76 is an autosomal recessive neurologic disorder characterized by young-adult onset of slowly progressive spasticity of the lower limbs resulting in gait difficulties. Most affected individuals have upper limb involvement and additional features such as foot deformities and dysarthria. Cognition is unaffected (summary by {1:Gan-Or et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +616910,"Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by {3:Thijssen et al., 2015}).\n\nFor a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 ({242860})." +616911,"Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by {1:Thijssen et al., 2015}).\n\nFor a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 ({242860})." +616914,"The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development ({9:Takenouchi et al., 2013}).\n\n{9:Takenouchi et al. (2013)} noted phenotypic overlap with Marfan syndrome ({154700}) and Shprintzen-Goldberg craniosynostosis syndrome ({182212})." +616917,"Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) is an autosomal recessive disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar atrophy, ataxia, and nonspecific dysmorphic features. NEDHSCA is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway. Some patients with NEDHSCA may have the Emm-null blood group phenotype (see {619812}) (summary by {4:Makrythanasis et al., 2016}; {2:Duval et al., 2021}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +616920,"Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by {1:Shaheen et al., 2016})." +616921,"Infantile-onset limb and orofacial dyskinesia is an autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking; the severity is variable (summary by {1:Diggle et al., 2016})." +616922,"Autosomal dominant striatal degeneration-2 is a neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive (summary by {1:Mencacci et al., 2016}).\n\nFor a discussion of genetic heterogeneity of ADSD, see ADSD1 ({609161})." +616924,"Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by {1:Rebelo et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A ({118210})." +616937,"Thrombocytopenia-6 is an autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. Patients may also have bone abnormalities, including osteoporosis or tooth loss, as well as an increased risk for myelofibrosis (summary by {1:Turro et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}." +616938,"Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by {3:Wieczorek et al., 2013}). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by {1:Kosho et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900})." +616946,"Premature ovarian failure-11 (POF11) is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone (FSH; see {136530}) levels before age 40 years ({1:Qin et al., 2015}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 ({311360})." +616949,"Autosomal recessive spinocerebellar ataxia-23 is a neurologic disorder characterized by epilepsy, intellectual disability, and gait ataxia (summary by {1:Gomez-Herreros et al., 2014})." +616963,"Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by {2:Schlingmann et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 ({143880})." +616968,"Autosomal dominant deafness-70 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is slowly progressive ({1:Gao et al., 2015})." +616969,"Autosomal dominant deafness-66 is a form of nonsyndromic sensorineural hearing impairment with widely variable age at onset ({1:Nyegaard et al., 2015})." +616973,"Autosomal dominant intellectual developmental disorder-42 (MRD42) is characterized by global developmental delay and impaired intellectual development. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by {4:Petrovski et al., 2016})." +616975,"Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome ({607872}); RERE is located in the proximal 1p36 critical region (summary by {2:Fregeau et al., 2016})." +616981,"Developmental and epileptic encephalopathy-37 (DEE37) is an autosomal recessive epileptic-dyskinetic neurologic disorder characterized by the onset of intractable seizures or abnormal movements in the first months or years of life. Patients typically have normal or only mildly delayed development in early infancy, but then show developmental regression and stagnation after the onset of seizures, which can occur between about 6 months to 2 years of age. In addition to epileptic encephalopathy, affected individuals also manifest a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. There is severely impaired intellectual development and function, loss of verbal skills with absent speech, and impaired volitional movements (summary by {1:Madeo et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617004,"PCLD2 is an autosomal dominant disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development. Abnormal biliary structures may be present early in life, but they usually remain asymptomatic until cyst growth initiates during adulthood. In advanced stages, patients may develop massively enlarged livers, which cause a spectrum of clinical features and complications. Genetic studies suggest that an accumulation of somatic hits in cyst epithelium determines the rate of cyst formation. A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by {1:Cnossen and Drenth, 2014}).\n\nFor a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 ({174050})." +617011,"Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by {5:Ortega-Recalde et al., 2015})." +617013,"Hypermanganesemia with dystonia-2 (HMNDYT2) is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by {5:Tuschl et al., 2016}).\n\nFor a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 ({613280})." +617014,"Severe congenital neutropenia-7 is an autosomal recessive immunodeficiency characterized by onset of recurrent infections in infancy or early childhood. Patients have peripheral neutropenia, although bone marrow biopsy shows normal granulocyte maturation. The neutropenia is not responsive to treatment with G-CSF, but may be responsive to GM-CSF (summary by {2:Triot et al., 2014} and {1:Klimiankou et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 ({202700})." +617017,"Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age ({2:Higuchi et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 ({118210})." +617018,"Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by {1:Depondt et al., 2016}).\n\nFor a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 ({164400})." +617020,"Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur. The disorder is associated with a defect in GPI-anchoring of membrane-bound proteins (summary by {3:Palmer et al., 2016}; {2:Davids et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +617021,"Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is an autosomal recessive multisystem disorder characterized by the onset of hydrops in utero. The severity of the hydrops and the disorder in general is highly variable. At birth, affected infants usually show poor growth, lactic acidosis, pulmonary hypertension with hypoxic respiratory insufficiency, and sideroblastic anemia. More variable features may include hepatosplenomegaly or cholestasis, hypoglycemia, pancreatic insufficiency, and micropenis or hypospadias. Death in infancy may occur. Those who survive tend to have resolution of lactic acidosis and anemia, but may show developmental delay and sensorineural deafness (summary by {1:Riley et al., 2020})." +617024,"Congenital stationary night blindness type 1H (CSNB1H) is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia ({1:Vincent et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A ({310500})." +617025,"Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by {2:Tchernev et al., 2013})." +617026,"Pontocerebellar hypoplasia type 2F is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by {2:Breuss et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A ({277470})." +617030,"Distal myopathy-5 (MPD5) is an autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. Other features include facial weakness and hyporeflexia. Patients remain ambulatory even after long disease duration (summary by {2:Park et al., 2016})." +617035,"The ductus arteriosus is a muscular artery connecting the pulmonary artery and the aorta during fetal life, shunting blood away from the lungs. It normally occludes shortly after birth. Failure of ductal closure results in PDA, one of the most common congenital heart defects, affecting 1 in 2,000 to 1 in 5,000 full-term infants and constituting 5% to 7% of all congenital heart defects (summary by {3:Mani et al., 2005}). PDA can be an isolated anomaly or occur in association with other congenital anomalies (summary by {2:Khetyar et al., 2008}).\n\nFor a discussion of genetic heterogeneity of isolated PDA, see PDA1 ({607411})." +617039,"The ductus arteriosus is a vital in utero vascular connection between the aorta and pulmonary artery that allows right ventricular output to bypass the nonventilated fetal lungs. Postnatal closure of the ductus arteriosus is an important step in normal cardiopulmonary transition. Failure of ductal closure results in patent ductus arteriosus (PDA), which occurs in approximately 2 to 8 per 10,000 term infants and constitutes 5% to 7% of all congenital heart defects (summary by {1:Hajj and Dagle, 2012}).\n\nFor a discussion of genetic heterogeneity of isolated PDA, see PDA1 ({607411})." +617041,"Duane retraction syndrome is the most common congenital disorder of cranial dysinnervation, with a prevalence of 1 in 1,000 individuals. Affected individuals have limited unilateral or bilateral horizontal eye movement, accompanied by globe retraction and palpebral fissure narrowing on attempted adduction (movement of the eye inward, toward the nose). DURS can be classified into 3 types: type 1, the most common, involves limited abduction (movement of the eye outward toward the ear); type 2, the least common, involves limited adduction; and type 3 involves limitation of both abduction and adduction. MRI and postmortem examination of patients with DURS have shown absence or hypoplasia of the abducens nerve, which normally innervates the lateral rectus (LR) extraocular muscle to abduct the eye, as well as aberrant LR muscle innervation by axons of the oculomotor nerve, which normally innervates the medial, inferior, and superior rectus and inferior oblique extraocular muscles (summary by {1:Park et al., 2016}).\n\nFor a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 ({126800})." +617046,"Spastic paraplegia-77 (SPG77) is an autosomal recessive neurologic disorder characterized by early-childhood onset of spasticity affecting the lower limbs and resulting in gait difficulties. The disorder is progressive and may be associated with childhood seizures, developmental delay, and mitochondrial dysfunction ({3:Yang et al., 2016}; {2:Vernon et al., 2015}; {1:Vantroys et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +617049,"Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by {2:Gomez-Ospina et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 ({211600})." +617050,"Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by {1:Ammann et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300})." +617051,"Neurodevelopmental disorder with microcephaly and gray sclerae (NEDMIGS) is a severe autosomal recessive disorder characterized by impaired global development with hypotonia often precluding independent ambulation, profoundly impaired intellectual development with poor or absent language, mild microcephaly, and abnormal visual fixation. Patients also have gray sclerae and may have coarse facial features. Most affected individuals have seizures; some may have brain imaging abnormalities (summary by {4:Shaheen et al., 2016} and {3:Froukh et al., 2020})." +617052,"Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by {3:Tummala et al., 2016}).\n\nBMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; {260400}), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, {127550}), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by {1:D'Amours et al., 2018}).\n\nFor a discussion of genetic heterogeneity of BMFS, see BMFS1 ({614675})." +617053,"MIRAGE syndrome (MIRAGE) is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection ({1:Narumi et al., 2016})." +617055,"PERCHING syndrome is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating. Each letter of the PERCHING acronym represents 2 important phenotypic elements: Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations; and facial Gestalt/grimacing and Genitourinary abnormalities ({4:Jeffries et al., 2019}). Death in infancy or early childhood often occurs, although survival to the third decade has been reported. Some of the features, such as contractures, dysmorphic craniofacial features, and severe feeding difficulties, are reminiscent of Bohring-Opitz syndrome ({605039}) (summary by {5:Kanthi et al., 2019} and {3:Buers et al., 2020})." +617056,"Autosomal dominant tubulointerstitial kidney disease-5 (ADTKD5) is characterized by the onset of progressive chronic renal disease in the first decades of life. Mild hyperuricemia may be present, but gout, hypertension, and proteinuria are usually absent. The disease may be associated with anemia or neutropenia. Some patients may have additional findings, including poor overall growth and impaired cognitive function. Renal biopsy shows tubulointerstitial abnormalities with atrophic tubules and fibrosis; secondary glomerular abnormalities and simple cysts may also be present (summary by {1:Bolar et al., 2016}).\n\nFor a discussion of genetic heterogeneity and revised nomenclature of ADTKD, see ADTKD1 ({162000})." +617061,"Autosomal dominant intellectual developmental disorder-44 with microcephaly (MRD44) is characterized by mildly delayed global development resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Additional features are highly variable (summary by {1:Ba et al., 2016})." +617062,"Okur-Chung neurodevelopmental syndrome (OCNDS) is characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients ({3:Okur et al., 2016})." +617065,"Developmental and epileptic encephalopathy-40 (DEE40) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms within the first 6 months of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding, axial hypotonia with peripheral spasticity, limited eye contact, profoundly impaired intellectual development with absent language, and poor fine motor skills (summary by {1:Alfaiz et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617068,"Noncirrhotic portal hypertension-1 (NCPH1) is an autosomal recessive disorder characterized by onset of portal hypertension associated with hepatosplenomegaly in the first or second decades of life, in the absence of cirrhosis, known extrahepatic diseases, or splanchnic venous thrombosis. Liver function is normal, and the disorder is relatively benign ({9:Vilarinho et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of NCPH\n\nSee also NCPH2 ({619463}), caused by mutation in the GIMAP5 gene ({608086}) on chromosome 7q36." +617070,"Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-4 (PEOB4) is an autosomal recessive disorder characterized by adult onset of eye muscle weakness and proximal limb muscle weakness associated with deletions of mtDNA on skeletal muscle biopsy, which results from defective mtDNA replication in post-mitotic muscle tissue. Additional features are more variable (summary by {1:Ronchi et al., 2012}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 ({258450})." +617072,"Autosomal recessive myopathy with rigid spine and distal joint contractures (MRRSDC) is characterized by onset of slowly progressive muscle weakness in the first or second decades of life. There is initial involvement of the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function; some patients may have mild cardiac involvement (summary by {1:Kayman-Kurekci et al., 2014})." +617075,"Nasopharyngeal carcinoma (NPCA) is a malignant tumor that emerges from the epithelium of the nasopharynx. It has a high incidence in southern China, and evidence suggests that there may be a genetic component that underlies familial clustering. Some patients have onset before 20 years of age (summary by {1:Dai et al., 2016})\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 ({607107})." +617080,"Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by {2:Gardella et al., 2016} and {1:Anand et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 ({601764})." +617086,"Encephalopathy due to defective mitochondrial and peroxisomal fission-2 (EMPF2) is an autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy (summary by {1:Koch et al., 2016}).\n\nFor a discussion of genetic heterogeneity of EMPF, see EMPF1 ({614388})." +617087,"Autosomal recessive axonal CMT2A2B is a neurologic disorder characterized by onset of peripheral neuropathy in the first years of life. Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable. Patients often have optic atrophy (summary by {4:Polke et al., 2011})." +617088,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {4:Huber and Cormier-Daire, 2012} and {7:Schmidts et al., 2013}). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nSRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500})." +617090,"Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by {3:Harding et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200})." +617091,"Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by {1:El Khouri et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +617092,"Primary ciliary dyskinesia-35 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by {1:Wallmeier et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +617093,"GRIDHH is an autosomal recessive multisystem disorder characterized by poor overall growth, impaired intellectual development, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by {1:Kopajtich et al., 2016})." +617099,"Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency ({1:Damgaard et al., 2016} and {2:Zhou et al., 2016})." +617100,"Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).\n\nFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 ({175100})." +617101,"Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by {2:Dias et al., 2016}).\n\nMany of these features overlap with chromosome 2p16.1-p15 deletion syndrome ({612513})." +617102,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {4:Huber and Cormier-Daire, 2012} and {5:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500})." +617105,"Developmental and epileptic encephalopathy-41 (DEE41) is a neurologic disorder characterized by the onset of seizures in the first days or weeks of life. Affected infants show severely impaired psychomotor development with hypotonia, spasticity, lack of speech, poor visual fixation, feeding difficulties sometimes necessitating tube feeding, poor overall growth and microcephaly, and contractures. Brain imaging may show delayed myelination, thin corpus callosum, and cerebral atrophy (summary by the {2:EPI4K Consortium, 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617106,"Developmental and epileptic encephalopathy-42 (DEE42) is a neurologic disorder characterized by the onset of various types of seizures in the first hours or days of life, although rare patients may have onset in the first weeks of life. The seizures tend to be refractory and associated with EEG abnormalities, including multifocal spikes and generalized spike-wave complexes. Affected infants show global developmental delay with severely impaired intellectual development. Other features may include axial hypotonia, peripheral hypertonia with hyperreflexia, tremor, ataxia, and abnormal eye movements (summary by the {2:Epi4K Consortium, 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617107,"Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by {1:Akawi et al., 2016})." +617108,"Sessile serrated polyposis cancer syndrome (SSPCS) is a rare disorder characterized by the presence of multiple serrated polyps in the colon and an increased personal and familial risk of colorectal cancer. SSPCS is defined by the World Health Organization (WHO) as the presence of at least 5 sessile serrated polyps (also known as 'sessile serrated adenomas,' or SSAs) proximal to the sigmoid colon, with 2 or more that are greater than 10 mm in diameter; or any number of serrated polyps in a person with a first-degree relative with SSPCS; or more than 20 serrated polyps of any size, distributed throughout the colon. SSAs are found in 2% of average-risk individuals undergoing their first screening colonoscopy, and are estimated to be responsible for 20 to 35% of all colon cancers. SSAs exhibit somatic mutations in the BRAF gene ({164757}), or less commonly in the KRAS gene ({190070}), early in their development. Individuals with SSPCS have a lifetime risk of colon cancer as high as 54% and may have a strong personal or family history of extracolonic cancers; first-degree relatives have a 32% risk of developing multiple serrated polyps and a 5-fold increased risk of colon cancer. An increased risk of pancreatic cancer has also been observed (summary by {2:Gala et al., 2014})." +617111,"Patterned macular dystrophy-3 (MDPT3), also called Martinique crinkled retinal pigment epitheliopathy, appears in the fourth or fifth decade of life and is characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina. Polypoid choroidal vasculopathy, choroidal neovascularization, or atrophic fibrous macular scarring can cause reduced visual acuity after age 50. Late-stage MDPT3 consists of a retinitis pigmentosa (RP; see {268000})-like phenotype due to death of retinal pigment epithelium (RPE) and photoreceptor cells. The dry desert land pattern observed on fundus examination corresponds to an irregular thickness of the Bruch membrane and the RPE, with a scalloped elevation ('crinkling') of the RPE observed on optical coherence tomography (OCT). Full-field electroretinography may be normal at preclinical and early stages of the dystrophy, but later cone and rod responses are severely reduced, consistent with progressive photoreceptor cell dysfunction and death at the final state (summary by {2:Meunier et al., 2016}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of patterned macular dystrophy, see MDPT1 ({169150})." +617113,"Developmental and epileptic encephalopathy-43 (DEE43) is a neurologic disorder characterized by the onset of various types of seizures usually in the first year of life. The age at onset is highly variable, ranging from the neonatal period to about 12 months of age. Later onset may rarely occur. Seizure types include febrile, infantile spasms, focal, tonic-clonic, and myoclonic; they tend to be refractory to treatment. Affected individuals show global developmental delay with mild to moderate intellectual disability, although some may have normal early development before the onset of seizures. EEG shows focal, multifocal, or generalized sharp waves associated with seizures, sometimes with hypsarrhythmia. Additional more variable features include tube feeding, hypotonia, peripheral hypertonia, ataxia, dyskinesia, and behavioral difficulties, including aggression, ADHD, stereotypic, and impulsive behavior (summary by the {2:Epi4K Consortium, 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617114,"Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures (summary by {4:Straussberg et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 ({601419})." +617115,"Peeling skin syndrome-5 (PSS5) is characterized by superficial peeling of the dorsal and palmar skin of the hands and feet; the skin of the forearms and legs may also be involved. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques ({1:Pigors et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 ({270300})." +617116,"Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by {1:Ricos et al., 2016}).\n\nFor a discussion of genetic heterogeneity of FFEVF, see FFEVF1 ({604364})." +617118,"Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by {1:Ricos et al., 2016}).\n\nFor a discussion of genetic heterogeneity of FFEVF, see FFEVF1 ({604364})." +617119,"Bardet-Biedl syndrome-22 (BBS22) is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability ({2:Lindstrand et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +617132,"Developmental and epileptic encephalopathy-44 (DEE44) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms or myoclonus usually in the first weeks or months of life, up to about 12 months of age. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG in some patients shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding and poor overall growth with microcephaly, axial hypotonia with peripheral hypertonia or spasticity, abnormal movements, limited eye contact, and profoundly impaired intellectual development with absent language. Many patients require tube feeding, and some die in childhood (summary by {2:Muona et al., 2016}; {1:Colin et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617137,"Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by {4:Wade et al., 2016}).\n\nFor a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 ({305620})." +617140,"ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by {1:Kim et al., 2016})." +617143,"Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by {1:Bauche et al., 2016}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +617145,"Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy (NADGP) is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by {1:Haack et al., 2016})." +617146,"Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by {1:Chesler et al., 2016} and {2:Delle Vedove et al., 2016})." +617153,"Developmental and epileptic encephalopathy-45 (DEE45) is a neurologic disorder characterized by global developmental delay apparent in infancy or early childhood and onset of seizures within the first 12 months of life. Affected individuals have severely impaired intellectual development, hypotonia, and other persistent neurologic deficits (summary by {1:Burgess et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617158,"Distal myopathy with rimmed vacuoles (DMRV) is an autosomal dominant myopathic disorder characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles (summary by {2:Bucelli et al., 2015})." +617159,"Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual developmental disorder with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by {2:Sifrim et al., 2016} and {3:Weiss et al., 2016})." +617162,"Developmental and epileptic encephalopathy-46 (DEE46) is a neurologic disorder characterized by the onset of intractable seizures in the first months or years of life. Affected individuals show global developmental delay with failure to thrive, hypotonia, and hyperreflexia with variably impaired intellectual development. More severely affected individuals have almost no developmental progress and are unable to sit or speak, whereas others may achieve some milestones (summary by {2:Tsuchida et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617166,"Developmental and epileptic encephalopathy-47 (DEE47) is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by {2:Guella et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617169,"MRT74 is characterized by intellectual impairment, macrocephaly, and dysmorphic features. Epilepsy with eyelid myoclonus has also been reported ({1:Almuriekhi et al., 2015}; {2:Mastrangelo et al., 2020})." +617171,"Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures (NEDHELS) is an autosomal recessive disorder characterized by hypotonia, poor feeding, and global developmental delay apparent from infancy. Most patients have poor overall growth, poor eye contact, sleep disturbances, and severely impaired expressive language. Affected individuals also tend to have behavioral problems, microcephaly, and variable dysmorphic features; many develop seizures. Brain imaging may show enlarged ventricles, thin corpus callosum and brainstem, and white matter abnormalities. The phenotype is variable (summary by {5:Nabais Sa et al., 2019})." +617173,"Intellectual developmental disorder with cardiac arrhythmia is an autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux (summary by {1:Lodder et al., 2016})." +617180,"Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by {1:Balasubramanian et al., 2017})." +617182,"LADCI is an autosomal recessive neurodevelopmental disorder characterized by severe expressive and receptive language delay apparent from early childhood. Affected individuals have additional developmental or behavioral abnormalities, including attention deficit, hyperactivity, or mild intellectual disability. Some patients develop cardiac arrhythmias reminiscent of sick sinus syndrome (summary by {1:Lodder et al., 2016} and {3:Shamseldin et al., 2016})." +617183,"Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by {1:Harel et al., 2016})." +617184,"MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by {1:Thompson et al., 2016}).\n\nFor a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 ({603041})." +617186,"Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by {1:Kremer et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of PEBEL\n\nSee also PEBEL2 ({618321}), caused by mutation in the NAXD gene ({615910}) on chromosome 13q34." +617187,"Spermatogenic failure-16 (SPGF16) is characterized by acephalic spermatozoa causing male infertility. Semen from affected men consistently shows nearly 100% abnormally shaped spermatozoa, mostly made up of headless tails, with a small proportion of intact spermatozoa with an abnormal head-tail junction, as well as a few tailless heads. Ultrastructurally, the anomaly involves absence of the implantation fossa and basal plate between the sperm head and the tail (summary by {1:Zhu et al., 2016}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +617190,"Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by {3:Shashi et al., 2016})." +617193,"PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by {2:Miyake et al., 2016}; {1:Flex et al., 2016})." +617201,"Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by {1:Broix et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}." +617205,"Autosomal visceral heterotaxy-8 (HTX8) is an autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs (summary by {4:Vetrini et al., 2016}).\n\nFor a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 ({306955})." +617207,"PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (summary by {5:Sferra et al., 2016})." +617217,"Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin ({2:Witkop, 1989})." +617219,"Proximal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability with poor speech, feeding difficulties, and autistic features. Some patients may have additional features, including renal tract anomalies (summary by {1:Caubit et al., 2016})." +617225,"Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients. Affected individuals also have cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy. Some patients may have mild cognitive impairment or frank dementia. The phenotype is highly variable (summary by {1:Estrada-Cuzcano et al., 2017}).\n\nBiallelic mutation in the ATP13A2 gene also causes Kufor-Rakeb syndrome (KRS; {606693}), a neurodegenerative disorder with overlapping features. Patients with KRS have earlier onset and prominent parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by {1:Estrada-Cuzcano et al., 2017})." +617228,"Combined oxidative phosphorylation deficiency-31 is an autosomal recessive multisystem disorder characterized by left ventricular noncompaction (LVNC), global developmental delay, and severe hypotonia. More variable features include seizures, cataract, and abnormal movements. The disorder becomes apparent soon after birth or in early infancy, and patients may die in early childhood. Biochemical studies are consistent with a defect in mitochondrial function (summary by {1:Eldomery et al., 2016}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +617232,"Autosomal recessive limb-girdle muscular dystrophy-21 (LGMDR21) is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy (summary by {1:Servian-Morilla et al., 2016}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive LGMD, see LGMDR1 ({253600})." +617235,"Neonatal intractable myoclonus is a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. There is phenotypic and biochemical evidence of mitochondrial dysfunction (summary by {2:Duis et al., 2016})." +617236,"CRDHL1 is characterized by cone-rod dystrophy and sensorineural hearing loss, with relatively late onset of both ocular and hearing impairment. The funduscopic findings are characteristic, showing ring-shaped atrophy along the major vascular arcades that manifests on fundus autofluorescence as a hypoautofluorescent band along the vascular arcades surrounded by hyperautofluorescent borders ({3:Namburi et al., 2016}).\n\n<Subhead> Genetic Heterogeneity of Cone-Rod Dystrophy and Hearing Loss\n\nCRDHL2 ({618358}) is caused by mutation in the CEP250 gene ({609689}) on chromosome 20q11." +617238,"Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by {2:Kaiser et al., 2004}).\n\nFor a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}." +617241,"LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by {1:van der Crabben et al., 2016})." +617248,"MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by {1:Mandel et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I ({250950})." +617251,"Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by {2:U. Basmanav et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 ({191480})." +617252,"Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by {1:U. Basmanav et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 ({191480})." +617255,"Lissencephaly-8 (LIS8) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum ({1:Jerber et al., 2016}).\n\nFor a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 ({607432})." +617258,"Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs. Upper and lower limbs are affected, and some individuals develop distal muscle weakness and atrophy. Ambulation is generally preserved, and patients do not have significant respiratory compromise. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization (summary by {1:O'Grady et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 ({601419})." +617260,"GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by {1:Stevens et al., 2016})." +617271,"Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by {1:Macia et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 ({256100})." +617276,"Developmental and epileptic encephalopathy-48 (DEE48) is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech; poor, if any, motor development; and onset of seizures usually in the first year of life, although later onset has been reported. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by {2:Assoum et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617281,"Developmental and epileptic encephalopathy-49 (DEE49) is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by {2:Han et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617282,"Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities (DYTOABG) is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected (summary by {1:Heimer et al., 2016})." +617284,"Dystonia-28 (DYT28) is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. Dystonia typically begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. The severity is variable, and some patients may become wheelchair-bound. Many patients also have an elongated face with bulbous nose, and some have abnormal eye movements. About half of patients show delayed motor and/or cognitive development with mild intellectual disability (summary by {2:Zech et al., 2016} and {1:Meyer et al., 2017})." +617290,"Early-onset vitamin B6-dependent epilepsy is an autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period or first months of life. The seizures show favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine. However, most patients show delayed psychomotor development (summary by {1:Darin et al., 2016})." +617294,"Generalized epidermolysis bullosa simplex 6 with scarring and hair loss (EBS6) is characterized by extensive skin erosions present at birth that heal with pigmentation defects and atrophy. Skin fragility improves with age, with progressive alopecia developing by adulthood ({2:Lin et al., 2016}, {1:He et al., 2016}).\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760})." +617296,"Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by {1:Josifova et al., 2016})." +617297,"Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms ({2:Witkop, 1988})." +617300,"LMPHM7 is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by {2:Martin-Almedina et al., 2016}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see {153100}." +617301,"Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE; {605899}) due to mutations in genes encoding the glycine cleavage system (summary by {3:Kurolap et al., 2016})." +617302,"OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by {1:Hartmann et al., 2016}).\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500})." +617303,"MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by {2:Kondo et al., 2017})." +617315,"Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {4:Cheong et al., 2016}).\n\nAnterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon ({6:Gould and John, 2002}).\n\nPatients with ASGD6 have been reported with the Peters anomaly subtype.\n\nPeters anomaly consists of corneal opacity, defects in the posterior structures of the cornea, and iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood (summary by {9:Vincent et al., 2001})." +617319,"Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by {1:Cheong et al., 2016})." +617320,"Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by {2:Fischer, 2009}). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes ({1:Akiyama et al., 2003}). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; {242500}) ({4:Oji et al., 2010}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300})." +617321,"Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants ({1:Yao and Shen, 2017})." +617330,"Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by {3:Sleven et al., 2017})." +617333,"Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by {1:Mattioli et al., 2017}).\n\nSee also chromosome 3p deletion syndrome ({613792})." +617336,"NEM11 is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by {1:Miyatake et al., 2017}).\n\nFor a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 ({161800})." +617337,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nHypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by {1:Cluzeau et al., 2011})." +617339,"Developmental and epileptic encephalopathy-51 (DEE51) is an autosomal recessive severe neurodevelopmental disorder characterized by onset of intractable seizures and hypotonia in the first days or weeks of life. Affected individuals have severely delayed psychomotor development and may show abnormal movements. Brain imaging shows nonspecific abnormalities, such as cerebral atrophy, cerebellar atrophy, and delayed myelination. Laboratory studies showed increased lactate, suggesting mitochondrial dysfunction (summary by {1:Ait-El-Mkadem et al., 2017}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +617341,"CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by {1:Simon et al., 2016}).\n\nFor a discussion of genetic heterogeneity of CRMCC, see CRMCC1 ({612199})." +617347,"Hyperlipoproteinemia type III, also called dysbetalipoproteinemia, is characterized by hyperlipidemia due to accumulation of remnants of the triglyceride (TG)-rich lipoproteins (TGRL), very low density lipoproteins (VLDL), and chylomicrons (CM), in response to dysfunctional genetic variants of apolipoprotein E or absence of apoE (summary by {3:Blum, 2016})." +617350,"Developmental and epileptic encephalopathy-52 (DEE52) is a severe autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development. Affected individuals have impaired intellectual development and may have other persistent neurologic abnormalities, including axial hypotonia and spasticity; death in childhood may occur (summary by {4:Patino et al., 2009} and {5:Ramadan et al., 2017}). Some patients with DEE52 may have a clinical diagnosis of Dravet syndrome ({607208}), which is characterized by the onset of seizures in the first year or 2 of life after normal early development. Developmental delay, impaired intellectual development, and behavioral abnormalities usually become apparent later between 1 and 4 years of age. Dravet syndrome may also include 'severe myoclonic epilepsy in infancy' (SMEI) (summary by {4:Patino et al., 2009}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +617352,"The Mulchandani-Bhoj-Conlin syndrome is characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty ({1:Mulchandani et al., 2016})." +617384,"Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine (HPA) usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities, such as dystonia, and variably impaired intellectual development. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal tetrahydrobiopterin (BH4) metabolism. Evidence suggests that treatment with BH4 and neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).\n\nThe phenotype is highly variable: some patients may present with later onset of juvenile or young adult nonprogressive dopa-responsive parkinsonism reminiscent of early-onset Parkinson disease ({168600}). These patients benefit from treatment with L-dopa (summary by {4:Straniero et al., 2017}).\n\nIn a review of HPA, {2:Blau et al. (2018)} noted that molecular screening for DNAJC12 mutations should be mandatory in patients in whom deficiencies of PAH ({612349}) and BH4 metabolism have been excluded." +617386,"In humans and primates, NR1H5P is a pseudogene. However, in other mammals, it encodes a functional nuclear hormone receptor that appears to be involved in cholesterol biosynthesis ({2:Otte et al., 2003})." +617388,"Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by {2:Grandemange et al., 2016})." +617389,"Developmental and epileptic encephalopathy-53 (DEE53) is a severe autosomal recessive neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood (summary by {1:Hardies et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617391,"Developmental and epileptic encephalopathy-54 (DEE54) is a severe neurodevelopmental disorder characterized by delayed psychomotor development, early-onset refractory seizures that are often initially febrile but later afebrile, and severe intellectual disability (summary by {2:de Kovel et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617392,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin ({1:Issa et al., 2016})." +617393,"Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017})." +617394,"Neonatal sclerosing cholangitis (NSC) is a rare autosomal recessive form of severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Cholangiography shows patent biliary ducts, but there are bile duct irregularities (summary by {1:Girard et al., 2016}; {2:Grammatikopoulos et al., 2016})." +617396,"Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by {1:Barraza-Garcia et al., 2017}).\n\nFor a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 ({607095})." +617397,"Pseudo-TORCH syndrome-2 (PTORCH2) is an autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway (summary by {3:Meuwissen et al., 2016}).\n\nFor a discussion of genetic heterogeneity of PTORCH, see PTORCH1 ({251290})." +617402,"Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by {2:Van Damme et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100})." +617403,"Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by {2:Van Damme et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100})." +617404,"MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by {2:Wiessner et al., 2017} and {1:Osborn et al., 2017})." +617405,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500})." +617406,"BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +617412,"BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017})." +617439,"Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).\n\nFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 ({123100})." +617442,"Premature ovarian failure-13 (POF13) is characterized by female infertility due to secondary amenorrhea in the third decade of life. Patients exhibit atrophic ovaries devoid of follicles ({1:Guo et al., 2017}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 ({311360})." +617443,"BDPLT21 is a hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists. Platelets are usually enlarged, and some patients may have mild to moderate thrombocytopenia (summary by {1:Saultier et al., 2017})." +617450,"Jansen-de Vries syndrome (JDVS) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017})." +617452,"IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})." +617468,"AMC1 is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by {1:Xue et al., 2017}).\n\n<Genetic Heterogeneity of Arthrogryposis Multiplex Congenita\n\nAlso see AMC2 ({208100}), caused by mutation in the ERGIC1 gene ({617946}); AMC3 ({618484}), caused by mutation in the SYNE1 gene ({608441}); AMC4 ({618776}), caused by mutation in the SCYL2 gene ({616365}); AMC5 ({618947}), caused by mutation in the TOR1A gene ({605204}), and AMC6 ({619334}), caused by mutation in the NEB gene ({161650})" +617475,"Specific granule deficiency-2 (SGD2) is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include paucity of neutrophil granulocytes, absence of granule proteins in neutrophils, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and patients may die in early childhood unless they undergo hematopoietic stem cell transplantation. Most patients have additional findings, including delayed development, mild dysmorphic features, tooth abnormalities, and distal skeletal defects ({4:Witzel et al., 2017}).\n\nFor a discussion of genetic heterogeneity of SGD, see SGD1 ({245480})." +617481,"NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by {3:Zollo et al., 2017})." +617493,"NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by {1:Ananth et al., 2016} and {2:Danti et al., 2017})." +617514,"IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by {3:Keller et al., 2016} and {2:Bacchelli et al., 2017})." +617516,"Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by {1:Kury et al., 2017})." +617524,"Erythrokeratodermia variabilis et progressiva-2 is a genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location. The severity and dominating features of the disease vary strikingly within families and also during an individual's course of disease. The erythematous component usually prevails in young children, whereas hyperkeratosis is the dominant or sole feature in adults. Some patients with EKVP2 display lesions resembling erythema gyratum repens (summary by {4:Richard et al., 2003}). EKVP was previously thought to be separate disorders: erythrokeratodermia variabilis (EKV) and progressive symmetric erythrokeratodermia (PSEK) ({5:van Steensel et al., 2009}).\n\nFor a discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200})." +617525,"Erythrokeratodermia variabilis et progressiva is a rare skin disease. Patients with EKVP3 have normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema (summary by {1:Boyden et al., 2015}).\n\nFor a discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200})." +617526,"Erythrokeratodermia variabilis et progressiva-4 is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet (summary by {1:Boyden et al., 2017}).\n\nFor a discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200})." +617527,"NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by {2:Falik Zaccai et al., 2017} and {3:Hall et al., 2017})." +617532,"Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017})." +617537,"Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017})." +617540,"Both familial and sporadic pituitary adenomas have been found to be caused by germline mutation in the CDH23 gene. Familial pituitary adenoma types include growth hormone (GH)-secreting and nonfunctional tumors. Sporadic pituitary adenoma types include GH-secreting, nonfunctional, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors.\n\nFor a general description and a discussion of genetic heterogeneity of pituitary adenomas, see PITA1 ({102200})." +617557,"Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by {1:Gabriele et al., 2017})." +617560,"Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by {1:Chelban et al., 2017}).\n\nFor a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 ({108600})." +617561,"Cohen-Gibson syndrome (COGIS) is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by {3:Cooney et al., 2017})." +617565,"Perrault syndrome-6 (PRTLS6) is an autosomal recessive disorder characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility (summary by {1:Chatzispyrou et al., 2017})." +617575,"NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS), resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by {3:Prasad et al., 2017} and {2:Lovric et al., 2017}).\n\nFor a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300})." +617576,"Spermatogenic failure-18 is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella ({2:Ben Khelifa et al., 2014}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +617591,"Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by {1:Brehm et al., 2015}).\n\nFor a discussion of genetic heterogeneity of PRAAS, see PRAAS1 ({256040})." +617592,"Spermatogenic failure-19 is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella ({3:Tang et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +617593,"Spermatogenic failure-20 is characterized by multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella ({3:Tang et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +617595,"Birk-Landau-Perez syndrome (BILAPES) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay apparent from infancy or early childhood. Some patients have developmental regression with loss of speech and motor skills, whereas other patients never achieve these milestones. More variable features may include hypotonia, poor overall growth, ataxia, dystonia, abnormal eye movements, and renal insufficiency ({2:Perez et al., 2017}; {1:Kleyner et al., 2022})." +617598,"MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by {1:Yost et al., 2017}).\n\nFor a discussion of genetic heterogeneity of MVA, see MVA1 ({257300})." +617599,"Developmental and epileptic encephalopathy-55 (DEE55) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks or months of life. Affected individuals have an extremely poor outcome, with profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements. Most have cortical visual impairment and require a feeding tube. Brain imaging shows nonspecific abnormalities, including cerebral atrophy, thin corpus callosum, and abnormal signals in the white matter. Death in childhood may occur. Biochemically, the disorder is associated with impaired synthesis of GPI-anchored proteins (summary by {3:Vetro et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +617602,"Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patients exhibit joint laxity. Failure to thrive is observed during infancy and early childhood ({2:Wang et al., 2017})." +617604,"MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by {2:Reynolds et al., 2017})." +617607,"Hypomineralized amelogenesis imperfecta type IIIB is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places ({1:Smith et al., 2016})." +617609,"NPHS15 is an autosomal recessive renal disorder characterized by onset of impaired kidney function with proteinuria in the first months of life. The disease course and severity varies widely. Some patients show rapid progression to end-stage renal failure necessitating transplant, whereas others have a more benign course that can be managed with medication. Renal biopsy tends to show glomerular sclerosis and effacement of podocyte foot processes (summary by {2:Bierzynska et al., 2017}).\n\nFor a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300})." +617610,"PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by {1:Lu et al., 2017}).\n\nFor a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 ({173900})." +617613,"Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood (summary by {1:Shukla et al., 2017}).\n\nFor a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 ({605711})." +617616,"Skraban-Deardorff syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip (summary by {1:Skraban et al., 2017})." +617626,"Gingival fibromatosis-5 is an autosomal dominant benign overgrowth disorder characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues. Affected individuals may have diastema, malposition of the teeth, and prolonged retention of primary teeth. Onset is in the first decade. Treatment by surgical resection is generally followed by regrowth of the gingival tissues (summary by {2:Pehlivan et al., 2009})." +617638,"IMD11B is an autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia (summary by {1:Ma et al., 2017})." +617641,"CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by {1:Heidet et al., 2017} and {5:Slavotinek et al., 2017})." +617642,"PAPA7 is an autosomal recessive disorder characterized by postaxial polydactyly and brachydactyly of the hands and/or feet. Other reported features present in some patients include syndactyly of the second and third digits of the feet, learning disabilities, and increased body weight ({2:Umair et al., 2017}; {1:Estrada-Cuzcano et al., 2020}).\n\nFor a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}." +617644,"Spermatogenic failure-21 is characterized by acephalic spermatozoa causing male infertility ({1:Li et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +617660,"VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by {1:Shi et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Vertebral, Cardiac, Renal, and Limb Defects Syndrome\n\nVCRL2 ({617661}) is caused by mutation in the KYNU gene ({605197}) on chromosome 2q22. VCRL3 ({618845}) is caused by mutation in the NADSYN1 gene ({608285}) on chromosome 11q13." +617661,"VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by {1:Shi et al., 2017}).\n\nFor a discussion of genetic heterogeneity of VCRL, see VCRL1 ({617660})." +617664,"Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome ({256000}). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by {1:Lake et al., 2017}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +617665,"Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by {5:Guella et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617666,"Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by {4:van Haelst et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see {219000}." +617667,"Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by {3:van Haelst et al., 2008}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see {219000}." +617668,"NELABA is a severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. Some patients die in infancy (summary by {1:Habarou et al., 2017})." +617671,"HELIX syndrome is an autosomal recessive disorder characterized by Hypohidrosis, Electrolyte imbalance, Lacrimal gland dysfunction, Ichthyosis, and Xerostomia (summary by {1:Hadj-Rabia et al., 2018})." +617672,"CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy (summary by {1:Edvardson et al., 2017})." +617682,"Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by {1:Pilarowski et al., 2018})." +617686,"Somatic mutations in the GNAS gene have been found predominantly in GH-secreting pituitary adenomas but also in ACTH-secreting adenomas.\n\nMutations in the GNAS gene have been found in about 40% of sporadic somatotrophin adenomas (summary by {7:Mete and Lopes, 2017}).\n\nFor a general description and a discussion of genetic heterogeneity of pituitary adenomas, see PITA1 ({102200})." +617694,"Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017})." +617695,"PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by {2:Marin-Valencia et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596})." +617698,"3-Methylglutaconic aciduria type IX (MGCA9) is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by {3:Shahrour et al., 2017}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I ({250950})." +617709,"Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) is an autosomal recessive disorder characterized by developmental delay, deafness, cardiomyopathy, epilepsy, and severe febrile decompensations (summary by {2:Ravel et al., 2021})." +617710,"NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by {5:Wortmann et al., 2017})." +617711,"Developmental and epileptic encephalopathy-91 (DEE91) is characterized by delayed psychomotor development apparent in infancy and resulting in severely to profoundly impaired intellectual development with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by {3:Myers et al., 2017}).\n\nFor a discussion of genetic heterogeneity of DEE, see 308350." +617712,"Oocyte maturation defect-3 is characterized by infertility, caused by absence of the zona pellucida that results in degeneration of oocytes and 'empty follicle syndrome' on in vitro fertilization procedures ({1:Chen et al., 2017}).\n\nFor a discussion of genetic heterogeneity of oocyte maturation defects, see OOMD1 ({615774})." +617713,"COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by {1:Feichtinger et al., 2017}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +617717,"ANOA is an autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades (summary by {1:Paul et al., 2017})." +617718,"Immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia (IMD71) is an autosomal recessive immunologic disorder characterized by the onset of recurrent infections and inflammatory features such as vasculitis and eczema in infancy or early childhood. Infectious agents include bacteria and viruses. Laboratory findings are variable, but usually show thrombocytopenia, sometimes with abnormal platelet morphology, increased serum IgE, IgA, or IgM, leukocytosis, decreased or increased T lymphocytes, and increased eosinophils. Detailed studies show impaired neutrophil and T-cell chemotaxis, as well as impaired T-cell activation due to defects in F-actin (see {102610}) polymerization (summary by {1:Brigida et al., 2018})." +617721,"HMN9 is an autosomal dominant neurologic disorder characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs (summary by {2:Tsai et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; {182960})." +617729,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by {2:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300})." +617730,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by {1:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300})." +617731,"Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by {1:Braun et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300})." +617743,"Oocyte maturation defects due to mutation in PATL2 show phenotypic variability, with some oocytes exhibiting maturation arrest at the germinal vesicle stage and others at the metaphase I stage. In some patients, a few oocytes progress to polar body I; those oocytes either undergo fertilization failure or, in those that are fertilized, early embryonic arrest ({1:Chen et al., 2017})." +617744,"IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by {1:Huppke et al., 2017})." +617746,"Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears ({1:Kim et al., 2017})." +617755,"NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by {3:Stankiewicz et al., 2017})." +617757,"JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by {1:De Mori et al., 2017}).\n\nFor discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300})." +617760,"CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.\n\nFor a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 ({160150})." +617763,"SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by {1:Di Donato et al., 2016})." +617767,"Joubert syndrome represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by {3:Wheway et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300})." +617768,"Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by {3:Koemans et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 ({610253})." +617771,"Developmental and epileptic encephalopathy-57 (DEE57) is a neurologic disorder characterized by global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language. Affected individuals have onset of refractory multifocal seizures in the first days or months of life, and may show developmental regression. EEG patterns include hypsarrhythmia, suggesting a clinical diagnosis of West syndrome, background slowing, and epilepsy of infancy with migrating focal seizures (EIMFS). Some patients may have mild dysmorphic features (summary by {1:Ambrosino et al., 2018} and {4:Mao et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617772,"DFNA34 is an autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity and variable additional features. Some patients have pure hearing loss without significant additional features, whereas some patients have features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria. The disorder results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist (see {147679}) may be effective if started early (summary by {2:Nakanishi et al., 2017})." +617773,"MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by {1:Alwadei et al., 2016})." +617780,"Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by {5:Ramakrishnan et al., 2016})." +617787,"Autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities (MRD50) is characterized by variable levels of impaired intellectual development, delayed speech and motor milestones, and behavioral abnormalities, most commonly autism spectrum disorder (ASD). Some patients may also have mild craniofacial dysmorphism, congenital cardiac anomalies, or seizures (summary by {2:Cheng et al., 2019})." +617800,"Autosomal recessive primary microcephaly-19 (MCPH19) is a rare congenital brain defect resulting in a reduction of occipitofrontal head circumference by at least 3 standard deviations, severe developmental delay, failure to thrive, cortical blindness, and spasticity ({1:DiStasio et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200})." +617802,"Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA) is an autosomal recessive disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth, as well as postnatal progressive microcephaly. Most patients develop early-onset, frequent, and often intractable seizures, compatible with an epileptic encephalopathy. Other features include poor feeding, poor overall growth, absent speech, poor or absent eye contact, inability to achieve walking, hypotonia, and peripheral spasticity. Brain imaging usually shows progressive cerebral atrophy, thin corpus callosum, and abnormalities in myelination. Death in childhood may occur (summary by {4:Siekierska et al., 2019})." +617804,"NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by {2:Lessel et al., 2017})." +617805,"RHDA3 is an autosomal dominant disorder characterized by abnormal kidney development beginning in utero. The phenotype is highly variable, even within families, and there is evidence for incomplete penetrance. Some affected individuals have bilateral renal agenesis, which is usually fatal in utero or in the perinatal period, whereas others may have unilateral agenesis that is compatible with life, or milder manifestations, such as vesicoureteral reflux (VUR). Female mutation carriers may also have uterine or ovarian abnormalities, including uterovaginal and ovarian agenesis. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; see {610805}) (summary by {1:Brophy et al., 2017}, {6:Sanna-Cherchi et al., 2017}, and {3:Herlin et al., 2019}).\n\nFor a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 ({191830})." +617807,"NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by {1:Lamers et al., 2017})." +617808,"Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients ({2:Shang et al., 2015}; {3:Van Paemel et al., 2017}; {1:Bramswig et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900})." +617810,"GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by {1:Nguyen et al., 2017}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +617820,"NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients may have seizures (summary by {1:Lemke et al., 2016})." +617821,"Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement ({1:Byers et al., 1997}; {4:Giunta et al., 2008}).\n\nFor a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}." +617822,"ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by {2:Gueneau et al., 2018})." +617825,"Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation ({1:Prasad et al., 2014}).\n\nFor a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200})." +617827,"Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by {2:Cottineau et al., 2017})." +617829,"Developmental and epileptic encephalopathy-92 (DEE92) is characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable impairment of intellectual development. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by {1:Hamdan et al., 2017}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +617830,"Developmental and epileptic encephalopathy-58 (DEE58) is a severe neurodevelopmental disorder characterized by the onset of infantile spasms and refractory seizures in the first days or months of life. Affected individuals have global developmental delay with impaired intellectual development, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, feeding difficulties, and spasticity (summary by {1:Hamdan et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617836,"DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017})." +617862,"NEDMEBA is an autosomal recessive neurodegenerative disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia (summary by {2:Marin-Valencia et al., 2018})." +617864,"NEDSGA is an autosomal dominant disorder characterized by global developmental delay apparent from infancy or early childhood, resulting in variable intellectual disability that can range from profound with absent speech to mild with an ability to attend special schools. Most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. Some patients may develop seizures of variable severity early in life (summary by {1:Martin et al., 2017})." +617865,"NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by {1:Palmer et al., 2017})." +617866,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {2:Huber and Cormier-Daire, 2012} and {3:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500})." +617872,"COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by {2:Menezes et al., 2015}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +617873,"COXPD35 is an autosomal recessive disorder characterized mainly by global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other types of seizures. Affected individuals have variable deficiencies of mitochondrial respiratory enzyme complexes resulting from a defect in mitochondrial metabolism (summary by {1:Kernohan et al., 2017}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +617874,"PCLD3 is an autosomal dominant disorder characterized by the development of multiple liver cysts that usually becomes apparent in adulthood. Liver cysts range in size and number, and the clinical severity is variable. Most patients also have a few renal cysts, but they do not result in significant renal disease or renal failure (summary by {1:Besse et al., 2017}).\n\nFor a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 ({174050})." +617875,"PCLD4 is an autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure (summary by {1:Cnossen et al., 2014}).\n\nFor a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 ({174050})." +617877,"Patients with SSFSC1 have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract ({1:Tan et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Short Stature, Facial Dysmorphism, and Skeletal Anomalies With or Without Cardiac Anomalies\n\nSSFSC2 ({619184}) is caused by mutation in the SCUBE3 gene ({614708}) on chromosome 6p21." +617879,"Leber congenital amaurosis with early-onset deafness is an autosomal dominant syndrome manifesting as early-onset and severe photoreceptor and cochlear cell loss. Some patients show extinguished responses on electroretinography and moderate to severe hearing loss at birth ({1:Luscan et al., 2017})." +617882,"CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by {1:Berciano et al., 2017}).\n\nIn a review of intermediate CMT, {1:Berciano et al. (2017)} noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by {1:Berciano et al., 2017}).\n\nFor a discussion of genetic heterogeneity of CMTDI, see {606482}." +617883,"Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by {2:Freire et al., 2018}).\n\nFor additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}." +617885,"Patients with biallelic mutations in the ADCY3 gene show hyperphagia within the first 2 years of life and develop severe obesity. Other features include hyposmia or anosmia, and some patients exhibit mild to moderate intellectual disability ({2:Saeed et al., 2018})." +617892,"Amyotrophic lateral sclerosis-24 (ALS24) is a fatal neurodegenerative disease characterized by adult-onset loss of motor neurons ({1:Brenner et al., 2016})." +617895,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {2:Huber and Cormier-Daire, 2012} and {4:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).\n\nFor a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 ({208500})." +617898,"Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss ({1:Terhal et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 ({186500})." +617899,"Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by {1:Hamilton et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}." +617903,"NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome (RTT; {312750}) (summary by {3:Yoo et al., 2017})." +617907,"Erythrocytosis-5 (ECYT5) is an autosomal dominant disorder characterized by increased red cell mass and typically elevated hemoglobin concentration and hematocrit. Some patients have increased serum EPO levels (summary by {3:Zmajkovic et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 ({133100})." +617916,"Neurodegeneration with brain iron accumulation-7 (NBIA7) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis. Severity and rate of progression are variable ({1:Drecourt et al., 2018})." +617917,"Neurodegeneration with brain iron accumulation-8 (NBIA8) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis ({1:Drecourt et al., 2018})." +617920,"Amyloidosis cutis dyschromica (ACD), a rare form of primary localized cutaneous amyloidosis, is a pigmentary disorder in which keratinocyte-derived amyloid is deposited in the skin. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. ACD can be distinguished from other conditions with similar clinical findings by a skin biopsy in which amyloid deposition in the papillary dermis is seen. Specific features that set ACD apart from the more common macular and lichenoid variants of primary cutaneous amyloidosis include dotted, reticular, or diffuse hyperpigmentation admixed with lentil-sized hypopigmented macules; mild or no associated pruritus; and, on histologic examination of skin from both hyper- and hypopigmented lesions, amyloid deposition confined to the papillary dermis, in close proximity to the epidermis ({1:Huang et al. (2009)}; {2:Mahon et al., 2016}).\n\nFor a discussion of genetic heterogeneity of primary localized cutaneous amyloidosis, see {105250}." +617921,"Amyotrophic lateral sclerosis is a neurodegenerative disorder clinically characterized by rapidly progressive muscle weakness and death due to respiratory failure. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively) ({2:Nicolas et al., 2018})." +617924,"Juvenile myoclonic epilepsy-10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. The age of onset also shows great variability: some patients present in the first years of life, whereas other have onset of seizures in teenage years. EEG typically shows 3.5 to 5 Hz polyspike wave discharges. There is evidence of incomplete penetrance (summary by {1:Bailey et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}." +617925,"Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).\n\nThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330})." +617927,"Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features ({2:Thevenon et al., 2016})." +617928,"Keratoconus-9, a degenerative corneal disease with onset during adolescence, is characterized by corneal ectasia, thinning, and cone-shaped protrusion that results in reduced vision ({1:Hao et al., 2017}).\n\nFor a discussion of genetic heterogeneity of keratoconus, see {148300}." +617929,"Developmental and epileptic encephalopathy-60 (DEE60) is an autosomal recessive neurologic disorder characterized by the onset of infantile spasms, seizures, or myoclonus in the first months of life. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severe global developmental delay with inability to sit, walk, or speak. Brain imaging may show brain atrophy and hippocampal malrotation (summary by {1:Mutoh et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +617933,"Developmental and epileptic encephalopathy-61 (DEE61) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in the first months or years of life. There is profound global developmental delay with intellectual disability, inability to walk, poor voluntary movements, spasticity, microcephaly, cerebral atrophy, and dysmorphic facial features (summary by {2:Muona et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +617935,"FFEVF4 is an autosomal dominant seizure disorder characterized by onset of focal seizures in the first years of life. Some patients may have secondary generalization and/or mild developmental deficits (summary by {3:Vanoye et al., 2014}).\n\nFor a discussion of genetic heterogeneity of FFEVF, see FFEVF1 ({604364})." +617936,"Individuals deficient in butyrylcholinesterase (BCHE) appear asymptomatic, apart from a heightened sensitivity to muscle relaxants such as suxamethonium (succinylcholine) and mivacurium, 2 BCHE carboxylester substrates. In individuals with usual BCHE levels, these drugs are rapidly hydrolyzed in plasma and their duration of action is short (less than 10 minutes). BCHE deficiency results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. Prolonged neuromuscular block occurs with BCHE deficiencies of marked severity (impairment over 70%). Although many acquired conditions may affect BCHE activity (e.g., liver or renal diseases, malnutrition, pregnancy, malignancy), BCHE deficiency is mainly due to mutations in the BCHE gene (summary by {2:Delacour et al., 2014})." +617938,"Developmental and epileptic encephalopathy-62 (DEE62) is a severe neurologic disorder characterized by the onset of various types of refractory seizures in the first weeks or months of life. Affected individuals have severe to profound developmental delay with hypotonia and impaired motor and cognitive development. Additional features may include spasticity, microcephaly, and brain imaging abnormalities (summary by {1:Zaman et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +617941,"Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({2:Stepensky et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 ({260400})." +617948,"Hereditary elliptocytosis-3 (EL3) is a hemolytic disorder characterized by the presence of elliptical erythrocytes and resulting in some cases in hemolytic anemia (summary by {12:Qualtieri et al., 1997}).\n\nFor a general description and a discussion of genetic heterogeneity of hereditary elliptocytosis (HE), see EL1 ({611804})." +617951,"Hypomyelinating leukodystrophy-15 is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by {1:Mendes et al., 2018})\n\nFor a discussion of genetic heterogeneity of HLD, see {312080}." +617952,"Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018})." +617954,"Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by {1:Vogtle et al., 2018}).\n\nFor a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 ({605711})." +617959,"Spermatogenic failure-24 is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate ({1:Dong et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +617960,"Spermatogenic failure-25 is characterized by small testes and infertility, with severe oligozoospermia or azoospermia due to maturation arrest at the primary spermatocyte stage ({2:Okutman et al., 2015}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +617961,"Spermatogenic failure-26 is characterized by acephalic spermatozoa, due to breakage that occurs in the midpiece of the sperm ({1:Sha et al., 2018}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +617964,"Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum (summary by {1:Simons et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}." +617965,"Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization ({1:Lores et al., 2018}).\n\nFor a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +617970,"The RH-null phenotype designates rare individuals whose red blood cells lack all Rh antigens. Two RH-null types, the regulator type ({268150}) and the amorph type, arising from independent genetic mechanisms have been distinguished. The regulator type is caused by mutation in the RHAG gene ({180297}). The amorph type arises from mutations at the RH locus itself that silence Rh expression. The RH locus contains the RHD ({111680}) and RHCE genes tandemly arranged at chromosome 1p36-p34. Four genes must therefore be silenced to produce the RH-null phenotype. The absence of the D antigen, produced by the RHD gene, is common in the human population; the D-negative phenotype may result from deletion or genetic alteration of the RHD gene. The RH-null amorph phenotype thus arises from inactivating mutations in RHCE on a D-negative background (summary by {2:Huang et al., 1998}, {3:Huang et al., 2000}).\n\nClinically, Rh-null patients present mild to moderate hemolytic anemia; cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. Rh-null patients rarely develop antibodies without stimulation, and most cases occur in response to pregnancy or transfusion ({8:Silvy et al., 2015})." +617971,"Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit ({141800}), cyanosis is apparent at birth, whereas if the beta chain is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; {142250}), cyanosis disappears when the complete gamma-beta-switch occurs (summary by {3:Mansouri and Lurie, 1993})." +617973,"Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit, cyanosis is apparent at birth, whereas if the beta chain ({141900}) is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; {142250}), cyanosis disappears when the complete gamma-beta-switch occurs (summary by {3:Mansouri and Lurie, 1993})." +617974,"Spondyloepimetaphyseal dysplasia of the Di Rocco type (SEMDDR) is characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles. Patients also exhibit variable degrees of metaphyseal and spine involvement ({1:Di Rocco et al., 2018})." +617976,"Developmental and epileptic encephalopathy-63 (DEE63) is an autosomal recessive neurologic disorder characterized by early-onset refractory infantile spasms and myoclonic seizures in the first months to years of life. Affected individuals have severe to profound developmental delay, often with hypotonia and inability to sit or speak (summary by {2:Redler et al., 2017}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +617980,"Familial erythrocytosis-6 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by {4:Kralovics and Prchal, 2000}). {7:Wajcman and Galacteros (2005)} noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. {7:Wajcman and Galacteros (2005)} also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant (see {617981}) is usually milder than that caused by a beta chain variant." +617981,"Familial erythrocytosis-7 (ECYT7) is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by {3:Kralovics and Prchal, 2000}). {4:Wajcman and Galacteros (2005)} noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. {4:Wajcman and Galacteros (2005)} also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant is usually milder than that caused by a beta chain variant (see {617980})." +617982,"Ververi-Brady syndrome (VEBRAS) is characterized by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by {4:Ververi et al., 2018})." +617988,"JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by {2:Jaberi et al., 2016} and {1:Bertoli-Avella et al., 2018})." +617991,"Chung-Jansen syndrome (CHUJANS) is characterized by global developmental delay apparent from infancy, impaired intellectual development or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by {2:Jansen et al., 2018})." +617993,"Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone ({3:Chefetz et al., 2005}). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 ({601756}) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement ({4:Frishberg et al., 2005}), {5:Ichikawa et al. (2010)} concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.\n\nHFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; {193100}), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption ({3:Chefetz et al., 2005}; {6:Ichikawa et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see {211900}." +617994,"Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone ({1:Chefetz et al., 2005}). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 ({605380}) or GALNT3 ({601756}) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement ({2:Frishberg et al., 2005}), {3:Ichikawa et al. (2010)} concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.\n\nHFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; {193100}), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption ({1:Chefetz et al., 2005}; {5:Ichikawa et al., 2005}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see {211900}." +617996,"Oocyte maturation defect-5 is characterized by female infertility due to inability of the oocyte to exit metaphase II, resulting in fertilization failure ({1:Sang et al., 2018}).\n\nFor a discussion of genetic heterogeneity of oocyte maturation defects, see OOMD1 ({615774})." +618000,"Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies ({2:Blackburn et al., 2018}).\n\nSee {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}." +618003,"Autosomal recessive deafness-57 is characterized by symmetric bilateral moderate to severe hearing loss, represented by gently downward-sloping audiograms. The hearing loss may be mildly progressive ({2:Guan et al., 2018})." +618004,"Developmental and epileptic encephalopathy-64 (DEE64) is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by {1:Straub et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618005,"Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystem disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by {1:Ng et al., 2018}).\n\n<Subhead> Genetic Heterogeneity of Congenital Disorders of Glycosylation with Defective Fucosylation\n\nSee also CDGF2 ({618323}), caused by mutation in the FCSK gene ({608675}) on chromosome 16q22.\n\nFor an overview of congenital disorders of glycosylation (CDG), see CDG1A ({212065}) and CDG2A ({212066})." +618006,"Hypomyelinating leukodystrophy-17 is an autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging shows multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination. Some patients may die in childhood (summary by {2:Shukla et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}." +618008,"Developmental and epileptic encephalopathy-65 (DEE65) is characterized by onset of intractable seizures of various types usually within the first months or years of life, severe to profound psychomotor developmental delay, and mild facial dysmorphism (summary by {1:Nakashima et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618009,"Autosomal dominant intellectual developmental disorder-61 (MRD61) is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). Most affected individuals learn to walk on time or with some mild delay. Additional features are highly variable and may include nonspecific dysmorphic features, obstipation, ocular anomalies, and poor overall growth ({1:Snijders Blok et al., 2018})." +618010,"Glycosylphosphatidylinositol biosynthesis defect-17 is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by {1:Nguyen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +618011,"Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).\n\nFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 ({149400})." +618012,"Developmental and epileptic encephalopathy (DEE93) is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by {1:Fassio et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +618013,"DFNB109 is characterized by bilateral congenital severe to profound sensorineural hearing loss. In addition, affected individuals exhibit vestibular dysplasia on CT scan, although they do not manifest problems with balance or movement ({1:Rohacek et al., 2017})." +618015,"Erythropoietic porphyria-2 is an autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). Affected individuals may have photosensitivity (summary by {1:Yien et al., 2017})\n\nFor discussion of genetic heterogeneity of EPP, see EPP1 ({177000})." +618018,"CYP2C8 is involved in the metabolism of a multitude of chemically diverse medications, including nonsteroidal antiinflammatory drugs, thiazolidinediones, and chemotherapeutic agents (summary by {3:Zhou et al., 2017}).\n\n{1:Backman et al. (2016)} reviewed the role of CYP2C8 in clinically relevant drug interactions." +618019,"Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) is an autosomal recessive disorder characterized by rhizomelic skeletal dysplasia of variable severity with or without abnormal nuclear shape and chromatin organization in blood granulocytes ({7:Hoffmann et al., 2002}; {2:Borovik et al., 2013}; {3:Collins et al., 2020}). Initial skeletal features may improve with age ({11:Sobreira et al., 2014})." +618021,"Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia ({3:Szenker-Ravi et al., 2018}).\n\nFor a discussion of genetic heterogeneity of TETAMS, see {273395}." +618022,"Humerofemoral hypoplasia with radiotibial ray deficiency (HHRRD) is a severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present ({1:Szenker-Ravi et al., 2018})." +618026,"NOTCH2NLR appears to be a nonfunctional pseudogene derived from a partial duplication of the NOTCH2 gene ({600275}) ({1:Fiddes et al., 2018})." +618027,"Coffin-Siris syndrome-7 (CSS7) is a neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by {1:Vasileiou et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900})." +618031,"PPCD4 is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape. There is inter- and intrafamilial as well as intraindividual variability. Symptoms can include blurred vision due to corneal edema, reduced visual acuity, secondary glaucoma, and corectopia; some affected individuals are asymptomatic. Rare patients have undergone enucleation for painful eye ({1:Liskova et al., 2018}).\n\nFor a discussion of genetic heterogeneity of PPCD, see {122000}." +618036,"Charcot-Marie-Tooth disease type 2DD is an autosomal dominant peripheral sensorimotor neuropathy mainly affecting the lower limbs. Affected individuals have gait impairment due to distal muscle weakness and atrophy. Some patients may also have involvement of the distal upper limbs, resulting in atrophy of the intrinsic hand muscles. The age at onset and severity of the disorder is highly variable, even within families, and those with earlier onset in late childhood or the teenage years tend to have a more severe disease course. Patients remain ambulatory even late in the disease, although some may require orthotic devices (summary by {1:Lassuthova et al., 2018}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A ({118210})." +618042,"Immunodeficiency-100 with pulmonary alveolar proteinosis and hypogammaglobulinemia (IMD100) is primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant (summary by {2:Cho et al., 2018}). {3:Magg et al. (2021)} determined that the disorder results from a gain-of-function effect that particularly affects B cells and monocytes." +618048,"Proteasome-associated autoinflammatory syndrome-2 (PRAAS2) is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by {4:Poli et al., 2018}).\n\nFor a discussion of genetic heterogeneity of PRAAS, see PRAAS1 ({256040})." +618049,"PKDYS2 is an autosomal recessive complex infantile-onset neurologic disorder characterized by abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay. Features of the disorder are consistent with decreased levels of monoamine neurotransmitters, although levels of these in the spinal fluid are normal. Preliminary findings indicate that treatment with a dopamine receptor agonist results in dramatic and sustained clinical improvement (summary by {1:Rilstone et al., 2013}).\n\nFor a discussion of genetic heterogeneity of PKDYS, see {613135}." +618050,"MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by {2:Reijnders et al., 2018})." +618052,"CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy ({1:Almomani et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 ({192600}).\n\nAn oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN ({188840}), and MYL3 ({160790}) genes has also been reported in 1 family." +618057,"Carboxylesterase-1 ({114835}) is a widely expressed serine esterase that is involved in the hydrolysis of multiple amide-containing and ester-containing endogenous and xenobiotic compounds including therapeutic agents such as methylphenidate, oseltamivir, angiotensin-converting enzyme inhibitors (e.g., trandolapril and temocapril), and anticancer drugs (e.g., capecitabin). In addition, CES1 is the primary enzyme responsible for metabolizing clopidogrel and its derivatives (summary by {1:Lewis et al., 2013})." +618061,"Polycystic kidney disease-6 is an autosomal dominant renal disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade. The cysts are generally small (less than 1 to 3 cm) and the kidneys are not massively enlarged. Some patients may have evidence of chronic interstitial fibrosis and about half develop liver cysts (summary by {1:Cornec-Le Gall et al., 2018}). The renal interstitial fibrosis suggests overlap with autosomal dominant tubulointerstitial kidney disease (ADTKD; see {162000}) (summary by {2:Devuyst et al., 2019}).\n\nFor a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 ({173900})." +618063,"Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by {1:Fassad et al., 2018} and {2:Hoben et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +618065,"Pontocerebellar hypoplasia type 1D (PCH1D) is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by {2:Burns et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596})." +618067,"Developmental and epileptic encephalopathy-66 (DEE66) is a neurologic disorder characterized by the onset of various types of seizures in the first days or weeks of life. Most seizures have focal origins; secondary generalization is common. Seizure control is difficult at first, but may become easier with time. Affected individuals show global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects. Brain imaging often shows cerebellar dysgenesis. A subset of patients have extraneurologic manifestations, including hematologic and distal limb abnormalities (summary by {1:Olson et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618077,"Inflammatory bowel disease is a chronic inflammatory condition of the gastrointestinal tract (summary by {2:Mohanan et al., 2018}).\n\nFor a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +618078,"Ovarian dysgenesis-6 is characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and absence of ovarian tissue on imaging studies. Males appear to be unaffected ({1:Weinberg-Shukron et al., 2015}).\n\nFor a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 ({233300})." +618084,"Peeling skin syndrome-6 is characterized by generalized ichthyotic dry skin and bullous peeling lesions on the trunk and limbs at sites of minor trauma. There is residual hyperpigmentation in areas of healing, but no scarring. Skin symptoms are exacerbated by warmth and humidity; however, the disorder improves markedly with age ({2:Bolling et al., 2018}; {3:Mohamad et al., 2018}).\n\nFor a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 ({270300})." +618086,"Spermatogenic failure-28 (SPGF28) is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue ({1:Kasak et al., 2018}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +618091,"Spermatogenic failure-29 (SPGF29) is characterized by nonobstructive azoospermia or oligozoospermia. Sperm that are present are immotile and exhibit abnormal morphology, primarily defects of the acrosome and head-neck junction ({1:Kherraf et al., 2017}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +618093,"SCA48 is an autosomal dominant neurodegenerative disorder characterized by onset of gait ataxia and/or cognitive-affective symptoms in midadulthood. Patients may present with involvement of either system, but most eventually develop impairment in both. Features include gait ataxia, dysarthria, and dysphagia, as well as cognitive decline, deficits in executive function, and psychiatric or affective manifestations, such as depression, anxiety, and apathy. Additional more variable features may include movement abnormalities, such as parkinsonism, tremor, chorea, dystonia, and dysmetria; spasticity is not observed. Brain imaging shows selective atrophy of the posterior areas of the cerebellar vermis, often with bilateral T2-weighted hyperintensities in the dentate nuclei (the 'crab sign'), and diffusion tensor imaging (DTI) may show paucity of cerebellar connections to the brainstem and cerebrum. The presentation is consistent with a clinical diagnosis of cerebellar cognitive-affective syndrome (CCAS). The phenotype shows both inter- and intrafamilial variability as well as some clinical overlap with SCAR16, suggesting that mutations in the STUB1 gene result in a spectrum of neurodegenerative manifestations (summary by {3:Genis et al., 2018}; {1:Cocozza et al., 2020}; {8:Palvadeau et al., 2020}; {9:Ravel et al., 2021}).\n\n{5:Magri et al. (2022)} found evidence that heterozygous STUB1 variants alone do not cause disease but require a concurrent expanded repeat allele of the TBP gene ({600075}) for disease manifestation; see MOLECULAR GENETICS." +618096,"Premature ovarian failure-15 (POF15) is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones ({1:Fouquet et al., 2017}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 ({311360})." +618097,"MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM; {210900}), but patients with mutations in the TOP3A gene do not have a malar rash (summary by {1:Martin et al., 2018}).\n\nFor a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; {210900})" +618107,"Autosomal dominant osteopetrosis-3 is characterized by phenotypic variability. Some patients have typical features of osteopetrosis, including fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density, whereas other patients exhibit localized osteosclerosis and generalized osteopenia. OPTA3 represents a relatively malignant form of osteopetrosis in some patients who develop significant pancytopenia and hepatosplenomegaly ({1:Bo et al., 2016}).\n\nFor a discussion of genetic heterogeneity of autosomal dominant osteopetrosis, see OPTA1 ({607634})." +618110,"Spermatogenic failure-30 is characterized by male infertility due to nonobstructive azoospermia or cryptozoospermia. The few sperm that have been observed are immotile and have small heads. Testicular histology in azoospermic patients shows incomplete maturation arrest, with a Sertoli cell-only pattern in some areas ({1:Arafat et al., 2017}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see {258150}." +618112,"SPGF31 is characterized by male infertility due to oligozoospermia with a high proportion (greater than 90%) of acephalic sperm. Affected couples may overcome infertility with intracytoplasmic sperm injection ({2:Zhu et al., 2018}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see {258150}." +618113,"MMERV is an episodic acute reversible encephalopathy that occurs in children and is frequently associated with a trigger, such as a febrile illness. Affected individuals have impaired consciousness, delirious behavior, and/or seizures with lip smacking or eye deviation. These changes are associated with white matter lesions in the brain that often occur in the splenium of the corpus callosum, but may occur in surrounding areas. The acute phase of the disorder can be treated with steroids, and most patients make a full neurologic recovery between episodes with no sequelae (summary by {3:Kurahashi et al., 2018})." +618114,"Liddle syndrome is an autosomal dominant form of hypertension characterized by early onset of hypertension associated with hypokalemia, suppressed plasma renin activity, and suppressed secretion of the mineralocorticoid hormone aldosterone (summary by {1:Hansson et al., 1995}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Liddle syndrome, see {177200}." +618115,"Spermatogenic failure-32 (SPGF32) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern ({1:Choi et al., 2010}).\n\nFor a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see {258150}." +618116,"BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by {2:Bahrami et al., 2017}).\n\nFor a discussion of genetic heterogeneity of BMFS, see BMFS1 ({614675})." +618117,"Ovarian dysgenesis-7 (ODG7) is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles ({1:Chen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 ({233300})." +618123,"Postaxial polydactyly type A8 is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails ({1:Palencia-Campos et al., 2017}).\n\nFor a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}." +618124,"Autosomal recessive peripheral neuropathy with or without impaired intellectual development is an early childhood-onset neurologic disorder characterized by slowly progressive distal motor impairment resulting in gait difficulties, often with loss of ambulation, and difficulties using the hands in most patients. Most affected individuals also have impaired intellectual development, although some have normal cognition. Electrophysiologic testing and sural nerve biopsy are most compatible with an axonal motor neuropathy; some patients may show signs of demyelination. Additional features may include eye movement abnormalities, claw hands, foot deformities, and scoliosis (summary by {5:Ylikallio et al., 2017})." +618126,"Liddle syndrome, or pseudoaldosteronism, is an autosomal dominant form of salt-sensitive hypertension characterized by suppressed plasma renin and aldosterone, hypokalemia, and metabolic alkalosis (summary by {1:Salih et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Liddle syndrome, see {177200}." +618129,"Autosomal dominant limb-girdle muscular dystrophy-4 is characterized by onset of proximal muscle weakness in young adulthood. Affected individuals often have gait difficulties; some may have upper limb involvement. Other features include variably increased serum creatine kinase, myalgia, and back pain. The severity and expressivity of the disorder is highly variable, even within families (summary by {3:Vissing et al., 2016}).\n\nFor a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see {603511}." +618131,"Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by {4:Wang et al., 2016} and {1:Alazami et al., 2018})." +618135,"MDDGC8 is an autosomal recessive muscular dystrophy with onset in childhood. The phenotype is highly variable: some patients may have gait difficulties and impaired intellectual development, whereas others may be clinically asymptomatic. Common features include calf hypertrophy and increased serum creatine kinase, and muscle biopsy often shows dystrophic features (summary by {1:Endo et al., 2015}). The disorder is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' ({2:Godfrey et al., 2007}).\n\nFor a discussion of genetic heterogeneity of muscular dystrophy- dystroglycanopathy type C, see MDDGC1 ({609308})." +618138,"Autosomal recessive limb-girdle muscular dystrophy-23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties. Age at onset generally ranges from childhood to mid-adulthood. Additional features include white matter abnormalities on brain imaging, increased serum creatine kinase, and dystrophic features, with partial LAMA2 deficiency on muscle biopsy. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy. Patients remain ambulatory well into adulthood (summary by {2:Gavassini et al., 2011} and {1:Chan et al., 2014}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 ({253600})." +618140,"Autosomal dominant deafness-74 (DFNA74) is characterized by nonsyndromic postlingual progressive hearing loss, with onset in the third decade of life in most affected individuals ({1:Wang et al., 2018})." +618141,"Developmental and epileptic encephalopathy-67 (DEE67) is characterized by the onset of various types of seizures in the first months of life, although later onset may occur in milder cases. The seizures tend to be resistant to treatment. Affected individuals have global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior (summary by {2:Chatron et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618142,"MFRG is an autosomal recessive syndrome in which microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia, are observed in most patients. Variable brain, cardiac, and skeletal anomalies are present, including corpus callosum agenesis or dysgenesis, lissencephaly, atrial and ventricular septal defects, patent ductus arteriosus, hypoplastic right ventricle, and joint contractures ({1:Shaheen et al., 2016})." +618143,"DEE95 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. More variable features may include abnormalities of the hands and feet, inguinal hernia, and feeding difficulties. The disorder is part of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by {2:Nguyen et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +618144,"An atypical form of Usher syndrome, here designated type IV (USH4), is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement (summary by {3:Khateb et al., 2018}).\n\nFor a discussion of genetic heterogeneity of Usher syndrome, see {276900}." +618145,"DFNB111 is characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement ({2:Wesdorp et al., 2018}; {1:Bademci et al., 2018})." +618149,"Orofacial cleft-8 (OFC8) is characterized by unilateral or bilateral cleft lip ({2:Leoyklang et al., 2006}; {1:Basha et al., 2018})." +618150,"Saul-Wilson syndrome (SWILS) is a rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. Clinical findings include marked short stature, prominent forehead with an enlarged anterior fontanel, prominent eyes with cataracts, narrow nasal bridge with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and short distal phalanges of fingers. Radiographic changes include platyspondyly, irregular end plates of vertebral bodies, and hypoplasia of the odontoid process with cervical instability in the spine, coxa valga, overtubulation, metaphyseal flaring and megaepiphyses in the long bones, while the hands and feet exhibit short phalanges, metacarpals and metatarsals, cone-shaped epiphyses of phalanges, and accessory ossification centers of metacarpals and metatarsals (summary by {1:Ferreira et al., 2018})." +618152,"Spermatogenic failure-33 (SPGF33) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Short and irregular-caliber flagella are primarily observed, as well as absent and coiled flagella, and abnormalities of the acrosome, head, and base are also present ({2:Kherraf et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +618153,"Spermatogenic failure-34 (SPGF34) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Irregular-caliber, short, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of the axoneme are also present ({1:Martinez et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +618154,"Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity ({1:Brouillard et al., 2017}).\n\nFor a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 ({235510})." +618155,"External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital nonprogressive external ophthalmoplegia and ptosis, with torticollis and scoliosis developing during childhood. In addition, patients exhibit hypoplastic or missing ribs with fusion anomalies ({1:Di Gioia et al., 2018})." +618156,"Squalene synthase deficiency (SQSD) is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids ({1:Coman et al., 2018})." +618157,"IGHD type IV is an autosomal recessive disorder characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I (IGF1; {147440}) and IGF-binding protein-3 (IGFBP3; {146732}) concentrations, and a good response to growth hormone treatment (summary by {2:Alatzoglou et al., 2014}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of IGHD, see {262400}." +618158,"IDDMSSD is a neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures ({1:Harms et al., 2018})." +618160,"Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; {139250}) and one or more of the other 5 anterior pituitary hormones. Some patients exhibit only GH deficiency, although approximately 50% of isolated GH deficiency progresses to CPHD ({2:Gergics et al., 2021}). Individuals with CPHD7 have been reported with isolated GH deficiency as well as combined deficiencies including thyroid-stimulating hormone (TSH; see {188540}) and/or prolactin (PRL; {176760}). In addition to severe postnatal short stature, patients exhibit delayed bone age and hypoplasia of the anterior pituitary, as well as distinctive facial dysmorphisms including frontal bossing and depressed nasal bridge ({1:Argente et al., 2014}; {5:Verberne et al., 2020}; {6:Yamada et al., 2021}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of CPHD, see {613038}." +618161,"Joubert syndrome-35 is an autosomal recessive disorder characterized by brain malformations that result in developmental delay, oculomotor apraxia, and hypotonia. Some patients have renal and retinal involvement ({1:Alkanderi et al., 2018}).\n\nFor a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300})." +618162,"Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay ({1:Csukasi et al., 2018})." +618164,"CAFDADD is a multisystemic developmental disorder with variable cardiac and digital anomalies and facial dysmorphism. Some patients may have seizures and ocular/aural abnormalities ({2:Tokita et al., 2018})." +618165,"Bone marrow failure syndrome-5 (BMFS5) is a hematologic disorder characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures (summary by {3:Toki et al., 2018})\n\nFor a discussion of genetic heterogeneity of BMFS, see BMFS1 ({614675})." +618167,"Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum ({2:Shabbir et al., 2018})." +618168,"Diarrhea-9 (DIAR9) is a form of neonatal-onset chronic diarrhea characterized by an osmotic diarrhea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption ({1:O'Connell et al., 2018}).\n\nFor a discussion of genetic heterogeneity of diarrhea, see DIAR1 ({214700})." +618170,"Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. Patient have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy (summary by {2:Ghosh et al., 2018})." +618173,"Retinitis pigmentosa-83 (RP83) is characterized by onset of night blindness in the first decade of life, with decreased central vision in the second decade of life in association with retinal degeneration. The retinal dystrophy is associated with cataract, and macular edema has also been reported in some patients ({1:Holtan et al., 2019})." +618174,"Complex cortical dysplasia with other brain malformations-9 is a severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum and other variable brain abnormalities. The phenotype results from impaired cortical neuronal migration (summary by {1:Schaffer et al., 2018}).\n\nFor a discussion of genetic heterogeneity of CDCBM, see CDCBM1 ({614039})." +618175,"Warburg-Cinotti syndrome (WRCN) is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis ({3:Xu et al., 2018})." +618176,"NPHS17, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis ({1:Braun et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300})." +618177,"NPHS18, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis ({1:Braun et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300})." +618178,"NPHS19, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis (summary by {1:Braun et al., 2018})." +618180,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nEctodermal dysplasia-14 of the hair/tooth type is primarily characterized by scalp hypotrichosis and hypodontia. Some patients have decreased sweating, and some show subtle facial dysmorphism ({1:Peled et al., 2016})." +618182,"Orthostatic hypotension-2 is an autosomal recessive disorder characterized by severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood. Some patients may also have renal dysfunction and reduced life expectancy. The disorder results from a defect in the biosynthesis of norepinephrine from dopamine due to a cofactor deficiency.\n\nFor a discussion of genetic heterogeneity of ORTHYP, see ORTHYP1 ({223360})." +618183,"Diarrhea-10 is a protein-losing enteropathy characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities. Some patients exhibit facial dysmorphism and cardiac and renal anomalies. Intrafamilial variability has been observed, and the disease can be severe, with death occurring in infancy in some patients ({1:Broekaert et al., 2018}; {3:Kurolap et al., 2018}).\n\nFor a discussion of genetic heterogeneity of diarrhea, see DIAR1 ({214700})." +618184,"Congenital hypomyelinating neuropathy-2 is an autosomal dominant neurologic disorder characterized by early-onset hypotonia, severely delayed motor development, muscle weakness with areflexia, and severely decreased nerve conduction velocities (NCV) resulting from improper myelination of axons. The severity is variable: some patients may present at birth with contractures and respiratory insufficiency, whereas others may achieve walking (summary by {5:Warner et al., 1996}).\n\nCHN shows significant phenotypic overlap with Dejerine-Sottas syndrome (DSS; {145900}), which is also a neuropathy with early onset. Some classify the disorders differently, noting that CHN is characterized by hypo- or amyelination resulting from a congenital defect in myelin formation, whereas DSS has features of continuous myelin breakdown, with demyelination and remyelination (summary by {3:Smit et al., 2008}).\n\nFor a discussion of genetic heterogeneity of CHN, see CHN1 ({605253})." +618185,"Periventricular nodular heterotopia-8 (PVNH8) is a neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. Three patients have been reported ({1:Ge et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see PVNH1 ({300049})." +618186,"Congenital hypomyelinating neuropathy-3 is an autosomal recessive neurologic disorder characterized by onset of neurogenic muscle impairment in utero. Affected individuals present at birth with severe hypotonia, often causing respiratory insufficiency or failure and inability to swallow or feed properly. They have profoundly impaired psychomotor development and may die in infancy or early childhood. Those that survive are unable to sit or walk. Sural nerve biopsy shows hypomyelination of the nerve fibers, and brain imaging often shows impaired myelination and cerebral and cerebellar atrophy. Nerve conduction velocities are severely decreased (about 10 m/s) or absent due to improper myelination (summary by {5:Vallat et al., 2016} and {2:Low et al., 2018}).\n\nFor a discussion of genetic heterogeneity of CHN, see CHN1 ({605253})." +618187,"Ovarian dysgenesis-8 (ODG8) is characterized by complete lack of estrogen action, resulting in absent breast development, primary amenorrhea, and osteoporosis ({1:Lang-Muritano et al., 2018}).\n\nFor a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 ({233300})." +618188,"Transient neonatal hyperparathyroidism is characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Because 80% of calcium is transferred during the third trimester, abnormalities may not be detected on second-trimester ultrasounds. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally, with most patients showing complete resolution of skeletal abnormalities by 2 years of age ({1:Suzuki et al., 2018})." +618189,"CMD2C is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years. Affected individuals exhibit reduction in coenzyme A (CoA) levels. Some severely affected children die in the first few years of life ({1:Iuso et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see {115200}." +618193,"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), or Nasu-Hakola disease, is a recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years (summary by {2:Klunemann et al., 2005}).\n\nFor a discussion of genetic heterogeneity of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, see {221770}." +618195,"Intellectual developmental disorder and retinitis pigmentosa (IDDRP) is characterized by mild to moderate intellectual disability and typical features of RP. Patients experience reduced night vision, constriction of visual fields, and reduced visual acuity; optic disc pallor, attenuated retinal blood vessels, and bone-spicule pigmentation are seen on funduscopy. Attention-deficit/hyperactivity disorder is observed in some patients ({1:Tatour et al., 2017})." +618196,"Capillary malformation-arteriovenous malformation-2 (CMAVM2) is an autosomal dominant disorder with variable expressivity. Patients have small multifocal cutaneous capillary malformations (CMs) on the head, neck, trunk, and/or extremities, sometimes in association with arteriovenous malformations (AVMs), which are typically located in the brain, face, or extremities. Some affected individuals also exhibit Parkes Weber lesions of the extremities, and vein of Galen aneurysmal malformations (VGAMs) are present in some patients ({1:Amyere et al., 2017}).\n\nFor a discussion of genetic heterogeneity of CMAVM, see {608354}." +618201,"Developmental and epileptic encephalopathy-68 (DEE68) is an autosomal recessive neurologic disorder characterized by onset of twitching and/or myoclonic jerks in infancy. The disorder progresses to refractory generalized tonic-clonic seizures, often resulting in status epilepticus, loss of developmental milestones, and early death. Other features include delayed development, axial hypotonia, spasticity of the limbs, and clonus. Brain imaging may show cortical atrophy (summary by {2:Barel et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618204,"Immunodeficiency 15A (IMD15A) is an autosomal dominant primary immunodeficiency disorder characterized by relatively late onset of recurrent respiratory tract infections and lymphopenia, combined with immune activation of both CD4+ and CD8+ T cells. One patient presented with inflammatory disease and possible ectodermal defect." +618205,"Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition. Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The severity of the neurologic deficits and presence of nonneurologic features is variable (summary by {3:Snijders Blok et al., 2018})." +618218,"Baker-Gordon syndrome (BAGOS) is a neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioral abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures (summary by {2:Baker et al., 2018})." +618219,"Postaxial polydactyly type A9 is characterized by one or more posterior or postaxial digits. There is intrafamilial and intraindividual variability ({1:Schrauwen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}." +618220,"RP84 is an autosomal recessive, early-onset form of retinitis pigmentosa, with onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7. Some patients retain light perception ({1:Ajmal et al., 2014}; {2:Latif et al., 2018})." +618221,"MRT66 is a nonsyndromic autosomal recessive intellectual developmental disorder with delayed speech development, neuropsychiatric symptoms, and relatively normal life span ({2:Philips et al., 2017})." +618223,"Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; {168450}), growth hormone (GH1; {139250}), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present ({1:Liu et al., 2018})." +618231,"Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer. EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas (summary by {4:Ramoz et al., 2000}).\n\nFor a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 ({226400})." +618244,"Mitochondrial complex I deficiency nuclear type 23 (MC1DN23) is an autosomal recessive nuclear-encoded mitochondrial disease with clinical presentations ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI findings may include basal ganglia abnormalities or optic atrophy (summary by {1:Magrinelli et al., 2022})." +618254,"Primary ciliary dyskinesia-39 (CILD39) is an autosomal recessive disorder characterized by chronic sinopulmonary infections beginning soon after birth and laterality defects in about 50% of patients. Although patient nasal ciliary samples have normal structure, detailed studies may show ciliary kinetic defects in some patients (summary by {1:Bonnefoy et al., 2018}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}." +618256,"Although mitochondria and mitochondrial DNA (mtDNA) are typically maternally inherited, evidence exists for rare occurrences of paternal mtDNA transmission ({2:Luo et al., 2018})." +618257,"DFNB112 is characterized by postlingual progressive sensorineural hearing impairment ({1:Girotto et al., 2013})." +618261,"Lymphoproliferative syndrome-3 (LPFS3) is an autosomal recessive early-onset immunologic disorder characterized by increased susceptibility to Epstein-Barr virus (EBV) infection in B cells, resulting in abnormal B-cell proliferation and increased susceptibility to B-cell malignancies, including Hodgkin lymphoma. Patients usually have hypogammaglobulinemia without lymphopenia, although some subsets of immune cells may be low and some patients may have recurrent infections. The disorder results from impaired signaling from proliferating B cells to effector T cells that provide immune surveillance. There may be an increased risk of solid tumors in heterozygous carriers (summary by {1:Abolhassani et al., 2017}).\n\nFor a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 ({308240})." +618264,"Congenital mirror movements-4 is an autosomal dominant condition characterized by involuntary movements on either side of the body that accompany and mirror intentional movements on the opposite side. Mirror movements usually involve the upper limb and hands, resulting in difficulty performing pure unimanual movements. The pathophysiology is probably related to developmental abnormalities of fiber decussation in the corticospinal tract (summary by {1:Meneret et al., 2017}).\n\nFor a discussion of genetic heterogeneity of mirror movements, see MRMV1 ({157600})." +618265,"ACCIID is characterized by arthrogryposis, cleft palate, craniosynostosis, micrognathia, short stature, and impaired intellectual development. Seizures and bony abnormalities (severe slenderness of the ribs and tubular bones and perinatal fractures) have been observed ({1:Mizuguchi et al., 2018})." +618267,"Epidermodysplasia verruciformis-3 is characterized by onset in childhood or early adulthood of persistent disseminated flat warts and pityriasis versicolor-like lesions of the skin that are induced by cutaneous human papillomaviruses (HPVs) of the beta genus. Some patients develop nonmelanoma skin cancer, particularly on areas of the body exposed to the sun. Patients are otherwise healthy and normally resistant to other microorganisms, including other viruses and skintropic pathogens, and even all other cutaneous and mucosal HPVs ({1:de Jong et al., 2018}).\n\nFor a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 ({226400})." +618268,"Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and severe global developmental delay ({1:Morimoto et al., 2018})." +618273,"MCCCHCM is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities on brain imaging. Affected individuals have enlargement of the corpus callosum, enlarged ventricles, and cerebellar and brainstem hypoplasia. Other features may include lack of speech development, gait instability, and seizures. Some patients with MAST1 mutations may have impaired intellectual development and/or autism spectrum disorder without significant findings on brain imaging (summary by {1:Tripathy et al., 2018})." +618275,"Hypotrichosis-14 (HYPT14) is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair ({2:Romano et al., 2018}).\n\nFor a discussion of genetic heterogeneity of hypotrichosis, see HYPT1 ({605389})." +618276,"Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a severe autosomal recessive neurodevelopmental disorder affecting the central and peripheral nervous system. Patients present in the first year of life with global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. The severity is variable, but death in childhood may occur ({3:Shashi et al., 2018})." +618278,"Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) is characterized by severe progressive cerebropulmonary symptoms, resulting in death in infancy from respiratory failure. Features include malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia, and transient liver dysfunction. Neuropathology shows increased angiomatosis-like leptomeningeal, cortical, and superficial white matter vascularization and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and granuloma-like lesions are seen in the lungs, and there is hepatomegaly with steatosis and collagen accumulation ({3:Uusimaa et al., 2018})." +618279,"Charcot-Marie-Tooth disease type 1G is an autosomal dominant progressive peripheral sensorimotor neuropathy characterized by distal muscle weakness and atrophy with onset in the first or second decade. Affected individuals have difficulty walking, distal sensory impairment with decreased or absent reflexes, and often have foot deformities. Median motor nerve conduction velocities (NCV) are decreased (less than 38 m/s) and sural nerve biopsy shows myelin defects and onion bulb formation (summary by {2:Hong et al., 2016} and {3:Motley et al., 2016}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B ({118200})." +618280,"Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism ({2:Pinz et al., 2018})." +618282,"Hyper-IgE recurrent infection syndrome-3 is an autosomal recessive immunologic disorder characterized by childhood onset of atopic dermatitis, skin infections particularly with Staphylococcus aureus, recurrent sinopulmonary infections, and increased serum IgE and IgG. Patients are susceptible to bacterial and fungal infections, including chronic mucocutaneous candidiasis. Immunologic work-up shows impaired differentiation of CD4+ T cells into T-helper 17 cells, decreased memory B cells, and often decreased NK cells (summary by {1:Beziat et al., 2018}).\n\nFor a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see HIES1 ({147060})." +618283,"Visual impairment and progressive phthisis bulbi is characterized by poor vision at birth, with development of bilateral phthisis by adulthood ({1:Ansar et al., 2018})." +618284,"The MCIDDS syndrome is characterized by microcephaly and growth retardation, congenital cataracts, impaired intellectual development with attention deficit-hyperactivity disorder, and dystonia, with striatal thinning seen on MRI ({1:Al-Owain et al., 2013})." +618285,"Developmental and epileptic encephalopathy-69 (DEE69) is an autosomal dominant severe neurodevelopmental encephalopathic disorder characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication (summary by {1:Helbig et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618291,"SMALED2B is a severe neuromuscular disorder with onset in utero. Affected individuals show decreased fetal movements and are usually born with congenital contractures consistent with arthrogryposis multiplex congenita (AMC). After birth, they have severe hypotonia and muscle atrophy as well as respiratory insufficiency due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Many patients die in early childhood (summary by {3:Storbeck et al., 2017})\n\nFor discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 ({158600})." +618298,"Developmental and epileptic encephalopathy-70 (DEE70) is neurologic disorder characterized by the onset of epileptic spasms or seizures in the first months of life. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills; intellectual impairment ranges from moderate to severe (summary by {2:Hamada et al., 2018}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +618300,"Primary ciliary dyskinesia-40 (CILD40) is an autosomal recessive disorder with a relatively mild respiratory phenotype compared to other CILDs. Patients present in childhood with mild upper respiratory symptoms and infections, but typically do not develop serious lung disease. Nitric oxide levels are low-normal or normal. All reported patients have had situs inversus, including several with severe congenital cardiac malformations, but left-right body asymmetry is still theoretically random and would occur in 50% of patients (summary by {2:Loges et al., 2018}).\n\nFor a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 ({244400})." +618307,"Epidermodysplasia verruciformis-4 is an autosomal recessive immunologic disorder characterized by increased susceptibility to certain human papilloma viruses (HPV) that cause warts and skin lesions. Affected individuals present in childhood with disseminated flat warts and psoriatic-like lesions that do not respond to treatment. Immunologic workup shows defects in T-cell development and signaling (summary by {1:Crequer et al., 2012}).\n\nFor a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 ({226400})." +618309,"Epidermodysplasia verruciformis-5 is an autosomal recessive immunologic disorder characterized by onset of warts and verrucous or plaque-like skin lesions associated with HPV infection. Immunologic workup shows T-cell lymphopenia, particularly affecting CD4+ T cells. There is an increased risk of skin malignancy, and some patients may have other symptoms of immune dysfunction (summary by {1:Horev et al., 2015}).\n\nFor a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 ({226400})." +618314,"HOMGSMR2 is characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation, and are associated with significantly impaired intellectual development ({1:Schlingmann et al., 2018}).\n\nFor a discussion of genetic heterogeneity of HOMGSMR, see {616418}." +618316,"IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Additional features, such as distal skeletal anomalies, may also be observed ({2:Stephen et al., 2018})." +618317,"Autosomal recessive idiopathic basal ganglia calcification-7 is a neurologic disorder characterized by onset of symptoms in adulthood. Patients present with dysarthria, gait abnormalities, various movement abnormalities, and often cognitive decline. Brain imaging shows abnormal accumulation of calcium deposits in deep brain regions, including the basal ganglia, thalamus, dentate nuclei, cerebellum, and sometimes other areas of the brain and spinal cord. Some patients with brain imaging abnormalities may be clinically asymptomatic (summary by {4:Yao et al., 2018}).\n\nFor a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600})." +618321,"Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-2 (PEBEL2) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, and sometimes seizures, resulting in death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by {2:Van Bergen et al., 2019}).\n\nFor a discussion of genetic heterogeneity of PEBEL, see PEBEL1 ({617186})." +618323,"Congenital myasthenic syndrome-25 is an autosomal recessive neuromuscular disorder characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine. Pyridostigmine treatment may be partially effective (summary by {4:Shen et al., 2017}).\n\nFor a discussion of genetic heterogeneity of CMS, see CMS1A ({601462})." +618325,"Lissencephaly-9 with complex brainstem malformation (LIS9) is an autosomal dominant neurologic disorder characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements associated with abnormal brain imaging that typically shows pachygyria, lissencephaly, and malformation of the brainstem consistent with a neuronal migration defect (summary by {1:Dobyns et al., 2018}).\n\nFor a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 ({607432})." +618328,"Developmental and epileptic encephalopathy-71 (DEE71) is characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth. Glutamine levels are significantly increased (z score 3.2-11.7). Three patients have been described (summary by {1:Rumping et al., 2019})." +618329,"Combined oxidative phosphorylation deficiency-37 is an autosomal recessive multisystem disorder apparent at birth or in the first months of life. Affected individuals have hypotonia, failure to thrive, and neurodegeneration with loss of developmental milestones, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Mitochondrial respiratory dysfunction is apparent in liver and skeletal muscle tissue. Most patients die in childhood (summary by {3:Zeharia et al., 2016}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +618332,"Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-1 (RSTS1; {180849}), patients with MKHK1 do not resemble the striking phenotype of RSTS1.\n\n<Subhead> Genetic Heterogeneity of Menke-Hennekam Syndrome\n\nMenke-Hennekam syndrome-2 (MKHK2; {618333}) is caused by heterozygous mutation in exons 30 or 31 of the EP300 gene ({602700}). Mutation elsewhere in that gene results in RSTS2 ({613684})." +618333,"Menke-Hennekam syndrome-2 (MKHK2) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, and hearing impairment are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-2 (RSTS2; {613684}), patients with MKHK1 do not resemble the striking phenotype of RSTS2.\n\nFor a discussion of genetic heterogeneity of Menke-Hennekam syndrome, see MKHK1 ({618332})." +618336,"IMAGEI is an autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. Patients exhibit distinctive facial features and variable immune dysfunction with evidence of lymphocyte deficiency ({1:Logan et al., 2018}).\n\nAn autosomal dominant form of the disorder, without immunodeficiency (IMAGE; {614732}), is caused by mutation in the CDKN1C gene ({600856}) on chromosome 11p15." +618339,"Aside from the clinical features of infantile cataract, skin abnormalities, and impaired intellectual development, CASGID is characterized by strikingly high intracerebral and urinary glutamate excess with almost undetectable glutamine. A gain-of-function mutation in the GLS gene was found (see MOLECULAR GENETICS) ({1:Rumping et al., 2019}). GLS loss of function is implicated in developmental and epileptic encephalopathy-71 (DEE71; {618328}) and a syndrome of global developmental delay and progressive ataxia (GDPAG; {618412})." +618341,"Spermatogenic failure-35 (SPGF35) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in spermatozoa with severely impaired motility and infertility. Short, thickened, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of axonemal composition are also present ({3:Shen et al., 2019})." +618343,"Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is an autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures. Similarly, only some patients have connective tissue defects that particularly affect the vascular system and can result in early death (summary by {7:Vandervore et al., 2017})." +618346,"Microcephaly, growth deficiency, seizures, and brain malformations (MIGSB) is a severe autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Additional features include optic atrophy, early-onset seizures, dysmorphic facial features, and brain malformations, such as partial agenesis of the corpus callosum and simplified gyration (summary by {1:Shaheen et al., 2015})." +618347,"Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with GAMOS6 also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported (summary by {1:Braun et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300})." +618348,"Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome (summary by {4:Rosti et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300})." +618349,"Galloway-Mowat syndrome-8 is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood (summary by {1:Fujita et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300})." +618352,"Central centrifugal cicatricial alopecia (CCCA) is the most common type of primary scarring alopecia affecting women of African ancestry, with an estimated prevalence of 2.7 to 5.6%. It may be triggered by hair-grooming habits; however, familial occurrence has been reported. Mean age at presentation is 36 years. The first sign is often unexplained hair breakage, followed by hair thinning, primarily involving the vertex scalp and progressing centrifugally. Histopathologic examination shows varying degrees of lymphocytic inflammation, follicular degeneration, and fibrosis ({2:Malki et al., 2019})." +618353,"Oocyte maturation defect-6 (OOMD6) is characterized by primary infertility due to defective sperm-binding to an abnormally thin zona pellucida (ZP) in patient oocytes. Successful pregnancy may be achieved by intracytoplasmic sperm injection in these patients ({2:Dai et al., 2019}).\n\nFor a discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774})." +618354,"Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) is characterized by global developmental delay apparent from infancy. The phenotype is highly variable: patients may have hypotonia, behavioral abnormalities, and abnormalities on brain imaging, including enlarged ventricles, thin corpus callosum, and sometimes small brainstem. Many develop seizures, sometimes refractory, and some may have nonspecific dysmorphic features. Intellectual impairment can vary from mild to profound, and some patients may benefit from special education and respond well to speech therapy (summary by {1:Reynhout et al., 2019})." +618356,"Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) is an autosomal recessive neurologic disorder with a highly variable phenotype. At the severe end of the spectrum, patients may have hypotonia apparent from birth, necessitating mechanical respiration and tube-feeding, and global developmental delay with absence of reaction to touch and no eye contact. At the mild end of the spectrum, patients may present with infantile-onset progressive ataxia and demyelinating peripheral neuropathy. The disorder is caused by mutation in the NFASC gene, which has several neuronal- and glial-specific transcripts. The variable clinical phenotype may be caused by several factors, including the severity of the mutation, the selective involvement of distinct isoforms by pathogenic variants, and the presence of genetic modifiers (summary by {2:Monfrini et al., 2019})." +618357,"Susceptibility to idiopathic generalized epilepsy-15 (EIG15) is an autosomal dominant seizure disorder characterized by onset of variable types of seizures in the first decade. Absence seizures are the most common manifestation, but most patients also develop other types, including clonic or generalized tonic-clonic seizures. EEG tends to show 3-Hz spike-wave discharges, whereas brain imaging is normal. The majority of patients also have developmental delay associated with impaired intellectual development apparent from infancy or early childhood (summary by {1:Rudolf et al., 2016}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see EIG ({600669})." +618358,"Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss ({4:Kubota et al., 2018}).\n\nFor a discussion of genetic heterogeneity of cone-rod dystrophy and hearing loss, see CRDHL1 ({617236})." +618360,"Brain small vessel disease-3 (BSVD3) is an autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration (summary by {1:Miyatake et al., 2018}).\n\nFor a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 ({175780})." +618362,"Coffin-Siris syndrome-8 is characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities. Dysmorphic features may or may not be present and include hypertrichosis or thin scalp hair, thick eyebrows, thin upper vermilion, and upturned nose ({1:Machol et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900})." +618363,"Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS)is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development ({1:Ashikov et al., 2018})." +618364,"Familial myoclonus-2 is an autosomal dominant neurologic condition characterized by childhood onset of isolated action-induced nonepileptic myoclonus affecting the upper limbs. The disorder is nonprogressive ({1:Wagnon et al., 2018})." +618369,"Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is an adult-onset neurologic disorder characterized by gait difficulties and other cerebellar signs, such as eye movement abnormalities, dysarthria, and difficulty writing. The disorder is progressive, and some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. Brain imaging shows cerebellar atrophy (summary by {1:Eidhof et al., 2018})." +618371,"Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations ({2:Turnpenny et al., 2018})." +618372,"Recurrent gastrointestinal ulceration with dysfunctional platelets (GURDP) is an autosomal recessive disorder characterized by onset of severe gastrointestinal mucosal ulceration in early childhood. Affected individuals may have secondary iron deficiency anemia or malnourishment. Studies of platelet aggregation show a functional defect associated with decreased thromboxane-A2 production and decreased eicosanoid biosynthesis. The gastrointestinal disease is believed to result from decreased or absent production of prostaglandins that protect the gut mucosa (summary by {1:Adler et al., 2008} and {3:Faioni et al., 2014})." +618373,"CAPOK syndrome (CAPOK) is characterized by onset of symptoms in the first year of life, with the development of progressive alopecia, hypo- and hyperpigmented macular skin lesions, palmoplantar keratoderma, and nail dystrophy. Beginning in the third decade of life, patients develop recurrent squamous cell carcinomas. Some patients may have brittle teeth resulting in tooth loss, and multinodular goiter has been observed ({1:Courcet et al., 2015})." +618374,"Developmental and epileptic encephalopathy-72 (DEE72) is neurologic disorder characterized by the onset of infantile spasms around 5 months of age. The seizures tend to be refractory to treatment. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills. Additional more variable features include hyperkinetic movements and cortical visual impairment (summary by {1:Sega et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618379,"Developmental and epileptic encephalopathy-73 (DEE73) is a neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals meet almost no developmental milestones: they have hypotonia and are unable to walk, speak, or feed properly. They have poor overall growth with small head circumference and dysmorphic facial features. Additional manifestations include cortical visual impairment with roving eye movements and variable hearing loss (summary by {1:Edvardson et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618384,"Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is an autosomal recessive disorder characterized by acute reversible neurologic deterioration in the context of a febrile illness. The disorder is associated with transient leukoencephalopathy on brain imaging concurrent with the acute episode, as well as persistently increased excretion of dicarboxylic acids, particularly alpha-ketoglutarate (summary by {1:Dewulf et al., 2019})." +618386,"Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. The enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides. Some affected individuals have anterior open bite ({1:Kim et al., 2019})." +618387,"Spinocerebellar ataxia with axonal neuropathy-3 (SCAN3) is an autosomal recessive neuromuscular disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging. Additional features usually include dysarthria, hyporeflexia, and increased serum creatine kinase. Some patients may have impaired intellectual development (summary by {1:Higuchi et al., 2018}).\n\nFor a discussion of genetic heterogeneity of SCAN, see SCAN1 ({607250})." +618388,"The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism ({3:Vogt et al., 2009}). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see {253290}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FADS, see {208150}." +618389,"The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism ({2:Vogt et al., 2009}). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see {253290}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FADS, see {208150}." +618392,"The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is characterized by severely retarded growth and skeletal anomalies, including spondyloepiphyseal dysplasia with associated kyphosis and reduced bone mineral density. Elevated levels of blood lysosomal enzymes have also been observed ({1:Kondo et al., 2018})." +618393,"Fetal akinesia deformation sequence-4 (FADS4) is an autosomal recessive disorder characterized by decreased fetal movements due to impaired neuromuscular function, resulting in significant congenital contractures and death in utero or soon after birth (summary by {1:Bonnin et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of FADS, see {208150}." +618394,"Immunodeficiency-60 and autoimmunity (IMD60) is an autosomal dominant primary immunologic disorder characterized by inflammatory bowel disease and recurrent sinopulmonary infections. The age at symptom onset is highly variable, ranging from infancy to mid-adulthood. Laboratory studies show dysregulation of both B and T cells, with variably decreased immunoglobulin production, decreased T-regulatory cells, and overall impaired lymphocyte maturation (summary by {1:Afzali et al., 2017})." +618395,"Spondyloepimetaphyseal dysplasia with joint laxity-3 (SEMDJL3) is characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones ({2:Girisha et al., 2016}).\n\nFor a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 ({271640})." +618396,"Developmental and epileptic encephalopathy-74 (DEE74) is neurologic disorder characterized by the onset of refractory seizures in the first months of life. Seizure types are variable and include infantile spasms, myoclonic, tonic, atonic, and absence, often with secondary generalization. Affected individuals have severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language (summary by {1:Shen et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618397,"Combined oxidative phosphorylation deficiency-39 (COXPD39) is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. Affected individuals show global developmental delay, sometimes with regression after normal early development, axial hypotonia with limb spasticity or abnormal involuntary movements, and impaired intellectual development with poor speech. More variable features may include hypotonia, seizures, and features of Leigh syndrome ({256000}) on brain imaging. There are variable deficiencies of the mitochondrial respiratory chain enzyme complexes in patient tissues (summary by {3:Glasgow et al., 2017}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +618398,"Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is an uncommon form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8 (see {186910})+ T cells infiltrate adipose tissue forming subcutaneous nodules. Both children and adults can be affected, with a median age at diagnosis of 36 years and a female gender bias. Most patients have accompanying systemic features such as fever or flank pain. A subset (about 20%) of patients develop hemophagocytic lymphohistiocytosis (HLH), usually associated with CD8+ T cells rimming adipocytes in the bone marrow. An infectious agent is not identified, and the disorder is believed to result from improperly activated inflammation. Immunosuppressive therapy may be helpful; hematopoietic bone marrow transplantation is usually curative (summary by {1:Gayden et al., 2018}).\n\nFor a general discussion of genetic heterogeneity of HLH, see HLH1 ({267700})." +618400,"Charcot-Marie-Tooth disease type 2EE (CMT2EE) is an autosomal recessive sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs and is slowly progressive, sometimes resulting in loss of ambulation, with later onset of upper limb involvement. There is significant distal muscle weakness and atrophy, usually with foot or hand deformities. Skeletal muscle biopsy shows findings of disturbed mitochondrial maintenance. Cognition is unaffected, and chronic liver disease is absent (summary by {1:Baumann et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A ({118210})." +618402,"MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients ({1:Maddirevula et al., 2018}; {2:Perez et al., 2018})." +618404,"Hypomyelinating leukodystrophy-18 (HLD18) is an autosomal recessive neurologic disorder characterized by onset of global developmental delay usually in early infancy. Affected individuals have very poor psychomotor development, including inability to sit or walk independently in the more severe cases, as well as poor or absent speech, dystonia, and spasticity. A subset of patients may develop seizures. Brain imaging shows hypomyelinating leukodystrophy affecting various brain regions; some patients may also have progressive atrophy of the corpus callosum, thalami, and cerebellum (summary by {3:Pant et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}." +618406,"Obesity due to mutation in the MC4R gene is the most common cause of monogenic obesity. Patients have early-onset severe obesity and hyperphagia ({6:Farooqi et al., 2003})." +618410,"DFNB113 is characterized by postlingual progressive hearing impairment ({1:Booth et al., 2018})." +618412,"Patients with global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) present in early childhood with delay of both gross and fine motor skills and delayed speech. Ataxia develops by mid- to late childhood, necessitating use of a walker or wheelchair. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. Residual glutaminase (GLS) activity can be detected in fibroblasts and lymphocytes. One or both alleles of the GLS gene carry an expanded GCA trinucleotide repeat in the 5-prime untranslated region (UTR); the repeat expansion may be found in compound heterozygosity with another GLS mutation. Three patients have been reported (summary by {1:van Kuilenburg et al., 2019})." +618414,"Congenital myopathy with fast-twitch (type II) fiber atrophy (MYOFTA) is an autosomal recessive skeletal muscle disorder characterized by onset of severe muscle weakness apparent at birth and sometimes in utero. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. Other features include delayed motor development with delayed walking, hypo- or areflexia, and high-arched palate. Skeletal muscle biopsy shows variation in fiber size with specific atrophy of the fast-twitch type II fibers. Cardiac muscle is not affected (summary by {1:Ravenscroft et al., 2018})." +618415,"Cataract-48 (CTRCT48) is characterized by infantile or early-childhood cataracts and visual impairment ({1:Ansar et al., 2018})." +618416,"Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia. There is significant phenotypic heterogeneity, even among patients with the same mutation (summary by {1:Almannai et al., 2018})." +618418,"Spastic paraplegia-80 (SPG80) is an autosomal dominant juvenile-onset neurologic disorder characterized by onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs and resulting in difficulty walking or loss of independent ambulation, sometimes as early as the second decade. Some patients may have cerebellar signs and mild cognitive impairment, but most have a pure form of the disorder (summary by {1:Farazi Fard et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600})." +618419,"GDRM is characterized by 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, including low birth weight, typical facial gestalt, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay ({1:Guran et al., 2019})." +618420,"Spermatogenic failure-36 (SPGF36) is characterized by reduced fertility due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus ({1:Guran et al., 2019}).\n\nFor a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150)." +618422,"DFNB100 is characterized by prelingual onset of profound sensorineural deafness without vestibular involvement ({2:Yousaf et al., 2018})." +618425,"Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate (summary by {1:Khan et al., 2019})." +618426,"Susceptibility to acute infection-induced encephalopathy-9 (IIAE9) is an autosomal recessive disorder characterized by episodic acute neurodegeneration and developmental regression associated with infections and febrile illness. Patients present in the first months or years of life, often after normal or only mildly delayed early development. Some patients may have partial recovery between episodes, such as transient ataxia, but the overall disease course is progressive, resulting in global developmental delay, abnormal movements, refractory seizures, microcephaly, and cerebellar atrophy (summary by {1:Fichtman et al., 2019}).\n\nFor a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see {610551}." +618429,"Spermatogenic failure-37 (SPGF37) is characterized by primary male infertility with asthenoteratozoospermia. Spermatozoa exhibit severely reduced motility due to multiple morphologic abnormalities of the flagella (MMAF), primarily consisting of short or absent flagella. Neck defects at the head-tail junction are frequently seen ({1:Liu et al., 2019}).\n\nFor a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +618430,"Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) is an autosomal dominant neurodevelopmental disorder. Most patients have impaired intellectual development with speech difficulties, and many have behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity. Many patients have dysmorphic features, although there is not a consistent gestalt. Additional more variable features may include hypotonia, somatic overgrowth with macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation. The phenotype is highly variable (summary by {5:Vetrini et al., 2019} and {4:Torti et al., 2019})." +618431,"Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes (summary by {1:Nguyen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 ({231090})." +618432,"Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes (summary by {1:Nguyen et al., 2018}).\n\nFor a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 ({231090})." +618433,"Spermatogenic failure-38 (SPGF38) is characterized by primary infertility and asthenoteratozoospermia due to multiple morphologic abnormalities of the flagella (MMAF). Spermatozoa show total sperm motility below 10% and exhibit morphologic anomalies including short, absent, coiled, bent, or irregular-caliber flagella ({1:Coutton et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +618434,"DFNB94 is characterized by prelingual profound sensorineural hearing loss ({1:Simon et al., 2015})." +618435,"Distal arthrogryposis type 2B2 (DA2B2) is characterized by congenital contractures of the distal limb joints and facial dysmorphism. Marked inter- and intrafamilial variability has been reported (summary by {1:Daly et al., 2014}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see {108120}." +618436,"Distal arthrogryposis type 2B3 (DA2B3) is characterized by facial dysmorphism and congenital joint contractures with predominantly distal involvement. Some patients exhibit muscle weakness ({4:Tajsharghi et al., 2008}). Considerable inter- and intrafamilial variability has been reported ({6:Xu et al., 2018})." +618437,"Developmental and epileptic encephalopathy-75 (DEE75) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by onset of severe refractory seizures in the first months of life. Patients often have global developmental delay before the onset of seizures, and thereafter achieve few milestones. EEG usually shows multifocal spikes and hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. They have severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia. Brain imaging shows progressive cerebral atrophy, frontal lobe atrophy, white matter abnormalities, and delayed myelination. Since the disorder is due to mitochondrial dysfunction, some patients may develop other organ involvement, including cardiomyopathy or liver and renal dysfunction. Death may occur in childhood (summary by {6:Yin et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618440,"Oculoskeletodental syndrome (OCSKD) is characterized by congenital cataract, short stature and various skeletal anomalies, dysmorphic facial features and dental anomalies, developmental delay, and stroke. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis ({1:Tiosano et al., 2019})." +618443,"Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) is characterized by global developmental delay apparent from infancy or early childhood, resulting in mildly delayed walking, variably impaired intellectual development, and poor or absent speech. Additional features may include hypotonia, spasticity, or ataxia. About half of patients have abnormal findings on brain imaging, including cerebral or cerebellar atrophy, loss of white matter volume, thin corpus callosum, and perisylvian polymicrogyria. Seizures are not a prominent finding, and although some patients may have nonspecific dysmorphic facial features, there is no common or consistent gestalt (summary by {2:Platzer et al., 2019})." +618447,"Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death ({4:Jongbloed et al., 1999}).\n\nFor a discussion of genetic heterogeneity of long QT syndrome, see LQT1 ({192500})." +618449,"Ciliary dyskinesia-41 (CILD41) is an autosomal recessive disorder characterized by chronic sinusitis, otitis media, and bronchiectasis ({1:Bustamante-Marin et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +618451,"Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia (NDCAMA) is an autosomal recessive disorder characterized by severe psychomotor developmental abnormalities, abnormal movements, and functional iron deficiency ({2:Costain et al., 2019})." +618454,"Developmental delay with or without dysmorphic facies and autism (DEDDFA) is a complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Some patients may be severely affected with no speech and inability to walk, whereas others may be able to attend special schools or have normal intellectual function associated with autism spectrum disorder and mild speech delay. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups. Patients with TRRAP mutations affecting residues 1031-1159 have a more severe disorder, often with multisystem involvement, including renal, cardiac, and genitourinary systems, as well as structural brain abnormalities. Patients with mutations outside of that region tend to have a less severe phenotype with a higher incidence of autism and usually no systemic involvement. Patients in both groups usually have somewhat similar dysmorphic facial features, such as upslanting palpebral fissures, hypertelorism, low-set ears, and broad or depressed nasal bridge, although these features are highly variable (summary by {1:Cogne et al., 2019})." +618456,"DFNB114 is characterized by congenital profound sensorineural hearing loss ({1:Li et al., 2019})." +618457,"DFNB115 is characterized by severe sensorineural hearing impairment in early childhood ({1:Ingham et al., 2019})." +618459,"Immunodeficiency-62 (IMD62) is an autosomal recessive primary immunologic disorder clinically characterized by onset of recurrent upper and lower respiratory infections late in the first decade of life. Patients may also have increased viral susceptibility to varicella zoster virus (VZV) or herpes simplex virus (HSV). Laboratory studies show impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies. There is also evidence of secondary T-cell dysfunction. The disorder may result from disturbed actin cytoskeleton dynamics causing impaired lymphocyte migration (summary by {1:Bouafia et al., 2019})." +618460,"Khan-Khan-Katsanis syndrome (3KS) is an autosomal recessive neurodevelopmental disorder with variable involvement of the ocular, renal, skeletal, and sometimes cardiac systems. Affected individuals present at birth with multiple congenital anomalies, defects in urogenital and limb morphogenesis, poor overall growth with microcephaly, and global developmental delay (summary by {1:Khan et al., 2019})." +618462,"Platelet-type bleeding disorder-22 (BDPLT22) is an autosomal recessive bleeding disorder resulting from impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries. Platelet counts are usually normal, although platelets show abnormal morphology (summary by {1:Berrou et al., 2018})." +618463,"Primary hypoalphalipoproteinemia-2 is an autosomal recessive disorder characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol (HDL-C). The disorder is associated with extensive atherosclerosis, xanthomas, and corneal opacities (summary by {18:Tanaka et al., 2018}).\n\nFor a discussion of genetic heterogeneity of primary hypoalphalipoproteinemia, see {604091}." +618464,"Paragangliomas-6 (PGL6) is an adult-onset tumor predisposition syndrome in which affected individuals develop neuroendocrine neoplasms, known as paragangliomas. Many tumors arise in the abdomen, although some may arise in other regions, including the head and neck. Some of the tumors may secrete biologically active normetanephrines, resulting in secondary hypertension. Tumors may be benign or malignant, and some may metastasize (summary by {1:Buffet et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 ({168000})." +618468,"Developmental and epileptic encephalopathy-76 (DEE76) is an autosomal recessive neurodevelopmental disorder characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging, mainly cerebral atrophy and delayed myelination. Some patients may have additional features, such as scoliosis or microcephaly. The disorder may result in death in childhood (summary by {1:Bell et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618469,"Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1B (CPSFS1B) is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions. Inter- and intrafamilial variability has been observed ({1:Cameron-Christie et al., 2018}).\n\nAn autosomal dominant form of contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS1A; {178110}) is caused by heterozygous mutation in the MYH3 gene." +618470,"Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) is an autosomal dominant neurodevelopmental disorder with onset of features in infancy or early childhood. Affected individuals have global developmental delay with impaired intellectual development and absent speech, and most cannot walk independently. Common dysmorphic features include prominent forehead and wide mouth (summary by {1:Bell et al., 2019})." +618475,"Paragangliomas-7 (PGL7) is an autosomal dominant tumor predisposition syndrome in which affected individuals develop adult-onset neuroendocrine neoplasms, know as paragangliomas. Most tumors arise in the abdomen, secrete normetanephrine, and follow a benign disease course (summary by {1:Remacha et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 ({168000})." +618476,"Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum (summary by {4:Guo et al., 2019})." +618479,"Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment. Additional features such as pontine involvement, retinal degeneration, anteverted nares, and low-set ears have been variably observed ({3:Rad et al., 2019})." +618480,"Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI) is an autosomal recessive disorder with onset in infancy. Patients show global developmental delay, particularly of speech acquisition, as well as walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Other features include seizures, mild dysmorphic features, and variable short stature. The pregnancies tend to be complicated by hyper- or hypotension (summary by {1:Ganapathi et al., 2019})." +618481,"DFNB99 is characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction ({1:Cheng et al., 2003})." +618482,"Generalized epilepsy with febrile seizures plus-10 (GEFSP10) is a seizure disorder characterized by variable types of seizures, including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Onset tends to be in the first months or years of life, and the seizure type may evolve or even eventually remit. Some patients may have impaired intellectual development or autistic features. Brain imaging is usually normal (summary by {2:Marini et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}." +618484,"Myogenic-type arthrogryposis multiplex congenita-3 (AMC3) is an autosomal recessive disorder characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking (summary by {2:Baumann et al., 2017})." +618493,"Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties, including hypoventilation, and sleep apnea. Patients may have significant breathing problems during respiratory infections that may lead to early death (summary by {3:Rahikkala et al., 2019})." +618494,"Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) is a syndromic neurodevelopmental disorder characterized by severe global developmental delay, impaired intellectual development with poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital anomalies. Most patients also have seizures and structural brain abnormalities (summary by {2:Palmer et al., 2019})." +618495,"Immunodeficiency-63 with lymphoproliferation and autoimmunity (IMD63) is an autosomal recessive disorder characterized by immune dysregulation. Affected individuals present in infancy with features of both abnormal activation of certain immune signaling pathways, resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia, as well as features of immunodeficiency, such as recurrent infections and increased susceptibility to viral infections, especially CMV. Laboratory studies show increased NK cells that show impaired differentiation, as well as abnormal T cell populations or responses. Some patients may die in childhood; hematopoietic bone marrow transplantation is curative (summary by {3:Zhang et al., 2019})." +618496,"Aortic valve disease-3 (AOVD3) is characterized by aortic stenosis and/or bicuspid aortic valve (BAV), associated in some patients with aneurysm of the aortic root and/or ascending aorta. Atrial septal defect (ASD) has also been observed in some individuals ({1:Gould et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 ({109730})." +618497,"Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (NEDNEH) is an autosomal recessive severe neurologic disorder characterized by delayed psychomotor development with inability to walk or speak, early-onset refractory seizures, and nonepileptic hyperkinetic movement disorders, including myoclonus dystonia and dyskinesias. Patients require tube feeding and may die of respiratory failure in childhood or in the second decade (summary by {1:Gorman et al., 2019})." +618498,"Postaxial polydactyly type A10 (PAPA10) is characterized by one or more postaxial digits of the hands and/or feet. A rudimentary digit (PAP type B) may also be present. Intrafamilial variability has been observed ({1:Ullah et al., 2019}).\n\nFor a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}." +618499,"Noonan syndrome-11 (NS11) is characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and a consistent cardiac phenotype of cardiac hypertrophy ({1:Higgins et al., 2017}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950})." +618500,"Holoprosencephaly-12 with or without pancreatic agenesis (HPE12) is a developmental disorder characterized by abnormal separation of the embryonic forebrain (HPE) resulting in dysmorphic facial features and often, but not always, impaired neurologic development. Most patients with this form of HPE also have congenital absence of the pancreas, resulting in early-onset type 1 diabetes mellitus and requiring pancreatic enzyme replacement. Other features may include hearing loss and absence of the gallbladder (summary by {1:De Franco et al., 2019} and {3:Kruszka et al., 2019}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 ({236100})." +618501,"Cerebellar atrophy with seizures and variable developmental delay (CASVDD) is an autosomal recessive neurologic disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging. Most patients also have onset of severe refractory seizures in the first year of life and show global developmental delay, compatible with epileptic encephalopathy (summary by {4:Edvardson et al., 2013}). However, at least 1 patient with normal cognitive development and only 1 febrile seizure has been reported ({6:Valence et al., 2019}), suggesting significant clinical variability of this disorder." +618505,"Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities (NEDCFSA) is a developmental disorder characterized by mildly impaired global development apparent from infancy, poor speech acquisition, hypotonia with early feeding difficulties, mildly delayed walking, and variable behavioral abnormalities, such as autistic features, hyperactivity, or attention deficits. Most individuals have coarse facial features, including prominent forehead, large ears, and wide mouth. Other features may include wide hands, thickened fingers, and cutaneous toe syndactyly, as well as joint hyperlaxity. Mutations occur de novo, such that the disorder occurs sporadically in patients with no family history of a similar disorder (summary by {1:Stolerman et al., 2019})." +618506,"Coffin-Siris syndrome-10 is characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present ({1:Zawerton et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900})." +618511,"Hereditary motor and sensory neuropathy type VIC with optic atrophy (HMSN6C) is an autosomal recessive axonal sensorimotor peripheral neuropathy characterized by progressive distal muscle weakness and atrophy primarily affecting the lower limbs. Onset of neuropathy is in the first decade, manifest by difficulty walking and running and followed by similar involvement of the upper limbs and hands. The disorder is associated with distal sensory impairment, particularly of position and vibration sense, as well as areflexia; individuals usually have pes cavus, hammertoes, and atrophy of the intrinsic hand muscles. In addition, progressive optic atrophy and visual impairment occur during adulthood. Treatment with pyridoxal 5-prime phosphate supplementation (vitamin B6) may result in amelioration of symptoms and slow progression of the disease (summary by {1:Chelban et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A ({601152})." +618512,"O'Donnell-Luria-Rodan syndrome (ODLURO) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, variably delayed intellectual development, and subtle dysmorphic features. Some patients may have autism, seizures, hypotonia, and/or feeding difficulties (summary by {1:O'Donnell-Luria et al., 2019})." +618513,"Leber congenital amaurosis-19 (LCA19) is characterized by reduced vision in early childhood and severely reduced responses of both rods and cones on electroretinography ({2:Yi et al., 2019}).\n\nFor a general description and a discussion of genetic heterogeneity of LCA, see {204000}." +618523,"Hyper-IgE recurrent infection syndrome-4B (HIES4B) is an autosomal recessive immunologic disorder characterized by early childhood onset of recurrent infections and skeletal abnormalities, including craniosynostosis and scoliosis. Patients are susceptible to infections, mainly bacterial infections that affect the respiratory tract, skin, and eye. Immunologic workup shows increased serum IgE, intermittent eosinophilia, and impaired IL6 ({147620}) and IL27 ({608273}) downstream signaling that affects the development and function of certain B- and T-cell populations, as well as the acute-phase response; IL11 ({147681}) signaling in fibroblasts is also affected (summary by {3:Shahin et al., 2019}).\n\nFor a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see HIES1 ({147060})." +618524,"Congenital myopathy with tremor (MYOTREM) is an autosomal dominant muscle disorder characterized by onset of hypotonia and tremor in infancy. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. Some may develop secondary mild contractures or spinal deformities. Cognition is normal and the disease course tends to stabilize after adolescence (summary by {2:Stavusis et al., 2019})." +618527,"Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity ({2:Mueller et al., 2019}). In addition, patients exhibit mild facial dysmorphism ({1:Kutkowska-Kazmierczak et al., 2018})." +618529,"Autosomal recessive Robinow syndrome-2 is a skeletal dysplasia characterized by postnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth. Variable other congenital anomalies may be present, including omphalocele, ventral hernia, and cardiac anomalies ({1:White et al., 2018}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive Robinow syndrome, see RRS1 ({268310})." +618531,"EKVP6 is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces. Intrafamilial variation in severity has been observed, and most affected individuals experience slowly progressive spontaneous remission after puberty ({1:Wang et al., 2019}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200})." +618533,"DFNA37 is an autosomal dominant form of early-onset postlingual progressive hearing impairment ({1:Booth et al., 2019})." +618534,"Immunodeficiency-64 (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity (summary by {4:Salzer et al., 2016}, {1:Mao et al., 2018}, and {5:Winter et al., 2018})." +618535,"Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.\n\nEctodermal dysplasia-15 (ECTD15) is characterized by hypotrichosis that develops in early childhood and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia ({1:van den Bogaard et al., 2019})." +618541,"Hypopigmentation, organomegaly, and delayed myelination and development (HOD) is characterized by hypopigmented skin and hair with normally pigmented irides; organomegaly including enlargement of liver, kidney, and spleen; and delayed myelination on brain MRI accompanied by developmental delay in both gross and fine motor skills. Biopsy findings from skin and other organs are consistent with a lysosomal storage disorder ({1:Nicoli et al., 2019})." +618546,"Nonphotosensitive trichothiodystrophy-7 (TTD7) is an autosomal recessive disorder characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis ({1:Theil et al., 2019}).\n\nFor a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}." +618547,"Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is characterized by global developmental delay with impaired intellectual development and speech delay, variable visual defects, including retinitis pigmentosa and optic atrophy, hypotonia or hypertonia, and variable structural brain abnormalities. Other nonspecific features may be found (summary by {1:Okur et al., 2019})." +618548,"Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months of life. Patients have severe global developmental delay, and may have additional variable features, including dysmorphic or coarse facial features, visual defects, and mild skeletal or renal anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by {4:Starr et al., 2019}).\n\nFor a discussion of genetic heterogeneity of MCAHS, see MCAHS1 ({614080}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +618550,"Oocyte maturation defect-7 (OOMD7) is characterized by infertility due to oocyte death, which may occur before or after fertilization ({1:Sang et al., 2019}).\n\nFor a discussion of genetic heterogeneity of oocyte maturation defects, see OOMD1 ({615774})." +618555,"Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Older patients may show retinitis pigmentosa-like retinal degeneration ({1:Stunkel et al., 2018})." +618557,"Developmental and epileptic encephalopathy-78 (DEE78) is a severe neurologic disorder characterized by onset of refractory seizures in the first days or months of life followed by severely impaired intellectual development. Additional features may include cortical visual impairment, hypotonia, and abnormal movements, such as spasticity (summary by {1:Butler et al., 2018}). One family with an attenuated disease course has been reported ({2:Maljevic et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618559,"Developmental and epileptic encephalopathy-79 (DEE79) is a severe neurologic disorder characterized by onset of refractory seizures in the first months of life. Affected individuals have severely impaired psychomotor development and may show hypotonia or spasticity. Brain imaging may show hypomyelination, cerebral atrophy, and thinning of the corpus callosum (summary by {1:Butler et al., 2018} and {2:Hernandez et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618564,"Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL) is a form of cerebral small vessel disease (CSVD) resulting in the onset of recurrent ischemic strokes in the thirties or forties. Affected individuals develop progressive, but variable, cognitive and motor impairment, consistent with progressive multi-infarct dementia. Brain imaging shows lacunar infarcts, often with a pontine predilection, as well as diffuse leukoencephalopathy affecting various brain regions. Although there are overlapping clinical features, the disorder is genetically and pathologically distinct from CADASIL ({125310}) (summary by {6:Verdura et al., 2016})." +618573,"Nongoitrous congenital hypothyroidism-7 (CHNG7) is characterized by normal-to-low T4 and normal-to-high thyrotropin (TSH; see {188540}) levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone (TRH; {613879}). Patients may exhibit short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue ({2:Collu et al., 1997}; {1:Bonomi et al., 2009}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of congenital nongoitrous hypothyroidism, see {275200}." +618578,"Progressive congenital myopathy with scoliosis (MYOSCO) is an autosomal recessive skeletal muscle disorder characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features ({1:Feichtinger et al., 2019})." +618580,"Developmental and epileptic encephalopathy-80 (DEE80) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in the first year of life. Patients have severe global developmental delay and may have additional variable features, including dysmorphic or coarse facial features, distal skeletal abnormalities, and impaired hearing or vision. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by {1:Murakami et al., 2019}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}.\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +618587,"Autosomal dominant intellectual developmental disorder-60 with seizures is characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life. Patients have delayed walking, an ataxic gait, and moderately to severely impaired intellectual development with poor speech (summary by {1:Helbig et al., 2019})." +618590,"Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis (NEDBSS) is an autosomal recessive disorder characterized by severely impaired psychomotor development, hypotonia, seizures, and structural brain anomalies, including thin corpus callosum and cerebellar atrophy. Other features include scoliosis, dysmorphic facies, and visual impairment. Affected individuals are usually unable to walk or speak and may require tube feeding in severe cases. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by {1:Knaus et al., 2019}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +618594,"Nephrotic syndrome type 21 (NPHS21) is an autosomal recessive renal disorder characterized by onset of kidney dysfunction in the first year of life. Laboratory studies show proteinuria and renal biopsy shows diffuse mesangial sclerosis. The disorder is rapidly progressive and ultimately results in end-stage renal disease. Some patients with variable extrarenal manifestations, such as microcephaly or impaired intellectual development, have been reported, but it is not clear whether these features are consistently part of the phenotype (summary by {1:Rao et al., 2017}). ({1:Rao et al. (2017)} designated the disorder NPHS25.)\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300})." +618598,"Progressive spastic tetraplegia and axial hypotonia (STAHP) is an autosomal recessive neurologic disorder characterized by onset of severe and progressive motor dysfunction in the first year of life. Affected individuals have severe axial hypotonia combined with spastic tetraplegia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected, but only 2 unrelated patients have been reported ({1:Andersen et al., 2019}; {2:Park et al., 2019})." +618603,"Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Additional features may include feeding difficulties, dysmorphic features, and visual defects. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles. The severity of the disorder is highly variable; initial evidence suggests that the severity may depend on the type of mutation (summary by {1:Haijes et al., 2019})." +618604,"Snijders Blok-Fisher syndrome (SNIBFIS) is a neurodevelopmental disorder characterized by global developmental delay, hypotonia, variable impaired intellectual development, and specifically impaired speech and language acquisition. Patients achieve independent ambulation and most have mild to moderately impaired cognition with autistic features, although a few may develop seizures and have a more severe phenotype. Dysmorphic features include abnormal, cupped, or prominent ears and ocular anomalies. Mutations usually occur de novo, although 1 family with autosomal dominant inheritance has been reported (summary by {1:Snijders Blok et al., 2019})." +618606,"Pontocerebellar hypoplasia type 13 (PCH13) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable (summary by {2:Uwineza et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596})." +618608,"Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies (IDNADFS) is characterized by mildly impaired global development, speech delay with nasal speech, and dysmorphic facial features, including high forehead, midface hypoplasia, micrognathia or high-arched palate, hypo/hypertelorism, upslanting palpebral fissures, and thin upper lip. Some patients may have skeletal anomalies, such as brachydactyly, 2-3 toe syndactyly, and flat feet (summary by {1:Alesi et al., 2019} and {6:Uehara et al., 2019})." +618612,"Congenital lower urinary tract obstruction (LUTO) is characterized by anatomic blockage of bladder outflow due to urethral stenosis, which may be caused by posterior urethral valves in some families ({1:Kolvenbach et al., 2019})." +618613,"Retinitis pigmentosa-86 (RP86) is characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity, with typical findings of RP on fundus examination, including attenuated retinal vessels, waxy pallor of the optic disc, and bone spicule-like pigmentation ({1:de Bruijn et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +618618,"The Nishimura type of spondyloepiphyseal dysplasia (SEDN) is characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Radiologic hallmarks include mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses ({1:Grigelioniene et al., 2019})." +618619,"Weiss-Kruszka syndrome (WSKA) is an autosomal dominant multiple congenital anomaly syndrome characterized by variable but usually mild global developmental delay and common craniofacial abnormalities, including ptosis, abnormal head shape, downslanting palpebral fissures, epicanthal folds, arched eyebrows, and short upturned nose. Many patients have hypotonia and feeding difficulties. A few patients show agenesis of the corpus callosum on brain imaging. Most cases occur sporadically, but there are rare familial cases that show highly variable expressivity in the phenotypic manifestations (summary by {1:Kruszka et al., 2019})." +618620,"Abdominal obesity-metabolic syndrome-4 (AOMS4) is characterized by obesity, hypertension, and early-onset coronary artery disease. Most affected individuals meet the criteria for metabolic syndrome, including elevated triglyceride and low high-density lipoprotein levels, and type 2 diabetes ({1:Esteghamat et al., 2019}).\n\nFor a discussion of the genetic heterogeneity of abdominal obesity-metabolic syndrome, see AOMS1 ({605552})." +618622,"Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) is an autosomal recessive disorder characterized by severe global developmental delay, usually with hypotonia and absence of spontaneous movements other than head control, impaired intellectual development with absent speech, distal contractures, progressive microcephaly, dysmorphic features, and distal skeletal abnormalities, such as rocker-bottom feet and clenched hands with camptodactyly. Brain imaging tends to show a simplified gyral pattern of the cerebral cortex, delayed myelination, thin corpus callosum, and hypoplasia of the brainstem and cerebellum. The disorder may be complicated by feeding and/or breathing difficulties, often resulting in death in infancy (summary by {1:Magini et al., 2019})." +618624,"Noonan syndrome-12 (NS12) is characterized by macrocephaly and a recognizable facies, including hypertelorism, downslanting palpebral fissures, and low-set ears, as well as other features consistent with a Noonan syndrome diagnosis. Inter- and intrafamilial variability has been observed ({1:Capri et al., 2019}; {2:Niihori et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950})." +618625,"Rothmund-Thomson syndrome type 1 (RTS1) is an autosomal recessive disorder characterized by poikiloderma, sparse hair, and bilateral juvenile cataracts. Patients may also have growth retardation and genital, skeletal, and dental abnormalities. The disorder is not associated with an increased risk of cancer (summary by {1:Ajeawung et al., 2019}).\n\nFor a discussion of genetic heterogeneity of Rothmund-Thomson syndrome, see RTS2 ({268400})." +618632,"Usher syndrome type 1M (USH1M) is characterized by prelingual sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa ({1:Ahmed et al., 2018}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Usher syndrome, see USH1 ({276900})." +618635,"Siddiqi syndrome (SIDDIS) is an autosomal recessive disorder characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI). More variable features may include ichthyosis-like skin abnormalities or sensory neuropathy (summary by {3:Zazo Seco et al., 2017})." +618641,"Infantile liver failure syndrome-3 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there usually is complete recovery between episodes with conservative treatment. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads (summary by {1:Cousin et al., 2019}).\n\nFor a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 ({615438})." +618643,"Spermatogenic failure-39 (SPGF39) is characterized by infertility due to asthenozoospermia. Patient spermatozoa exhibit multiple morphologic anomalies of the sperm flagellum (MMAF), including short, absent, irregularly shaped, and coiled flagella; abnormalities of the sperm head and midpiece have also been observed. Ultrastructural analysis shows a lack of the outer dynein arms (ODAs) in sperm cells ({2:Whitfield et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +618644,"Osteogenesis imperfecta type XX (OI20) is a progressive deforming bone disorder characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography. Several patients have died due to respiratory failure ({1:Moosa et al., 2019})." +618646,"Diencephalic-mesencephalic junction dysplasia syndrome-2 (DMJDS2) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay and hypotonia apparent from infancy. Affected individuals develop severe progressive hyperkinetic movements, including spastic tetraplegia, dystonia, and bulbar dysphagia necessitating tube feeding. Patients are unable to walk and have severely impaired intellectual development with absent speech. Brain imaging shows a unique malformation reflecting abnormal embryonic development of the diencephalic-mesencephalic junction (DMJ), with agenesis of the basal ganglia and olfactory bulb, hypoplasia of the thalamus, and abnormal course of the corticospinal tracts (summary by {2:De Mori et al., 2019}).\n\nFor a discussion of genetic heterogeneity of DMJDS, see DMJDS1 ({251280})." +618648,"Immunodeficiency-65 (IMD65) is an autosomal recessive immunologic disorder characterized by onset of recurrent and severe viral infections from early infancy. Affected individuals have impaired ability to fight viral infections, resulting in clinically significant disease, including pneumonia, bronchiectasis, and septic shock. Laboratory studies may show lymphopenia or hypogammaglobulinemia, particularly during infection; more detailed studies show an impaired cellular type I interferon response. Treatment with intravenous immunoglobulin (IVIg) is beneficial. Important features of this disorder include the rapid development of septic shock, as well as poor outcomes after vaccination with live attenuated vaccines; such vaccines should never be administered to patients with known impaired interferon responses (summary by {2:Hernandez et al., 2018} and {1:Bravo Garcia-Morato et al., 2019})." +618652,"Neurooculocardiogenitourinary syndrome (NOCGUS) is a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. Lethality before 2 years of age has been observed ({2:Reis et al., 2019})." +618653,"Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) is an autosomal dominant disorder characterized by global developmental delay apparent from infancy, impaired language development, and dysmorphic facial features, including hypertelorism, epicanthal folds, and abnormal palpebral fissures. Some patients may have additional findings, including feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies (summary by {1:Balak et al., 2019})." +618655,"Autosomal dominant adult-onset distal myopathy-6 (MPD6) is a muscle disorder characterized by slowly progressive distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties. Some patients develop involvement of proximal and upper limb muscles (summary by {1:Savarese et al., 2019})" +618658,"Zimmermann-Laband syndrome-3 (ZLS3) is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia ({1:Bauer et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 ({135500})." +618659,"Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a global neurodevelopmental disorder with highly variable features. Patients often show poor feeding, poor overall growth, and hypotonia from early infancy, followed by mildly delayed motor development, poor language acquisition, and behavioral abnormalities. Intellectual development varies from severe with absent speech to mild with the ability to attend special schools. Common features include dysmorphic facial features with notable eye anomalies, joint hypermobility, and mild skeletal anomalies of the hands and feet (summary by {1:Carapito et al., 2019})." +618662,"Diarrhea-11 (DIAR11) is characterized by onset of intractable malabsorptive diarrhea within the first few weeks of life ({2:Oz-Levi et al., 2019}).\n\nFor a discussion of genetic heterogeneity of diarrhea, see DIAR1 ({214700})." +618663,"Developmental and epileptic encephalopathy-81 (DEE81) is an autosomal recessive neurodevelopmental disorder typically characterized by onset of severe refractory seizures soon after birth or in the first months of life. Affected individuals show little developmental progress with no eye contact and no motor or cognitive development. Other features may include facial dysmorphism, such as hypotonic facies and epicanthal folds, as well as sensorineural hearing loss and peripheral neuropathy. Brain imaging shows cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy (summary by {1:Esposito et al., 2019}; {2:Maddirevula et al., 2019}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +618664,"Spermatogenic failure-40 (SPGF40) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Patient spermatozoa may also show morphologic defects of the sperm head, with acrosomal hypoplasia or aplasia ({4:Wang et al., 2019}; {2:Li et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +618666,"Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease (summary by {1:Berge et al., 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of sitosterolemia, see {210250}." +618670,"Spermatogenic failure-41 (SPGF41) is characterized by infertility due to multiple morphologic abnormalities of the flagella (MMAF). Patient semen analysis has also shown oligozoospermia, and the flagellar abnormalities include short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities ({1:Beurois et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +618674,"Individuals with PFBMFT5 have an age-dependent, rapidly progressive phenotype of pulmonary fibrosis and/or bone marrow failure with short telomeres and low levels of TERC ({602322}), a specialized noncoding RNA that provides the template for telomere repeat addition ({1:Gable et al., 2019})." +618677,"Complex cortical dysplasia with other brain malformations-10 (CDCBM10) is an autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. Affected individuals often develop seizures, are unable to walk, and do not acquire language (summary by {2:Lee et al., 2019}).\n\nFor a discussion of genetic heterogeneity of CDCBM, see CDCBM1 ({614039})." +618680,"Susceptibility to pancreatic ductal adenocarcinoma (PDAC) may be conferred by mutation in RABL3. Other cancers, including melanoma, breast cancer, and colon cancer, have been reported in RABL3 mutation-carrying individuals, with or without PDAC ({1:Nissim et al., 2019}).\n\nFor background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see {260350}." +618681,"Lessel-Kubisch syndrome (LSKB) is characterized by short stature and progeroid features, including prematurely gray hair, pinched facies, and scleroderma-like skin changes. Renal failure-associated hypertension and hypogonadism have also been observed ({1:Lessel et al., 2017})." +618683,"Mitochondrial complex V (ATP synthase) deficiency nuclear type 6 (MC5DN6) is an autosomal recessive progressive and degenerative disorder characterized by episodic regression of gross motor skills beginning in early childhood. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome (see {256000}) (summary by {1:Barca et al., 2018}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex V deficiency, see MC5DN1 ({604273})." +618688,"Transient infantile hypomyelinating leukodystrophy-19 (HLD19) is a disorder characterized by onset of transient neurologic abnormalities in early infancy, with resolution within the first or second decades. Affected individuals typically present in the newborn period or in early infancy with nystagmus and motor deficits associated with marked hypomyelination on brain imaging. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. Most patients have normal cognition and can attend regular schools, although some may have persistent neurologic deficits, such as gait ataxia, speech pronunciation defects, and/or mild cognitive impairment (summary by {1:Yan et al., 2019}).\n\nFor a discussion of genetic heterogeneity of HLD, see {312080}." +618695,"Primary ciliary dyskinesia-42 (CILD42) is an autosomal recessive disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by {1:Boon et al., 2014}).\n\nFor a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 ({244400})." +618697,"Retinitis pigmentosa-87 with choroidal involvement (RP87) is characterized by a slowly progressive visual disturbance, including night blindness and reduced central and peripheral vision, accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected ({2:Hull et al., 2016}; {4:Li et al., 2019}).\n\nFor a discussion of genetic heterogeneity of RP, see {268000}." +618699,"Primary ciliary dyskinesia-43 (CILD43) is a disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Patients with this disorder also develop significant obstructive hydrocephalus requiring shunting in infancy, although adult onset of neurologic symptoms may occur. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by {3:Wallmeier et al., 2019}).\n\nFor a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 ({244400})." +618702,"Short stature and microcephaly with genital anomalies (SSMGA) is characterized by severe growth failure, with extreme short stature, microcephaly, and delayed and dissociated bone age. Global psychomotor developmental delay may be present, although the brain appears structurally normal. Pubertal delay and genital anomalies have been observed ({1:Hung et al., 2017})." +618709,"Neurodevelopmental disorder with nonspecific brain abnormalities is a highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging. Some patients have seizures, hypotonia, and scoliosis/kyphosis. Cognitive function ranges from severely impaired to the ability to attend schools with special assistance (summary by {1:Fischer-Zirnsak et al., 2019})." +618718,"Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) is an autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia usually with inability to walk, and significant behavioral abnormalities consistent with autism spectrum disorder and reminiscent of Rett syndrome (RTT; {312750}), such as poor communication, stereotypic or repetitive behaviors, hand-wringing, bruxism, and sleep disturbances. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities (summary by {1:Abu-Libdeh et al., 2019} and {2:Dias et al., 2019})." +618719,"Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females ({1:Houweling et al., 2019})." +618721,"Developmental and epileptic encephalopathy-82 (DEE82) is an autosomal recessive mitochondriopathy manifest as early-onset metabolic epileptic encephalopathy. Soon after birth, affected individuals exhibit hypotonia, feeding difficulties, and global developmental delay even before the onset of seizures in the first year of life. The severity is variable, but all patients have severely impaired intellectual development with absent speech and spastic tetraplegia. Other features include poor overall growth with microcephaly and recurrent infections. Brain imaging shows cerebral atrophy, thin corpus callosum, cerebellar hypoplasia, and white matter abnormalities. Laboratory studies show increased serum lactate and ammonia. Importantly, treatment with combined pyridoxine and serine can result in significant improvement in seizures as well as some mild developmental progress (summary by {1:van Karnebeek et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618723,"Premature ovarian failure-16 (POF16) is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone (FSH; see {136530}) levels and low estradiol levels. Ovaries are smaller than normal and show a solid echo pattern with no antral follicle ({1:Zhang et al., 2018})." +618725,"Patients with intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS) have impaired intellectual development or developmental delay of varying severity with impaired motor skills and language delay. Macrocephaly, obesity, and overgrowth are frequently seen. Approximately half of patients experience seizures, and neurobehavioral disorders including autism are usually present ({1:Hamanaka et al., 2019}; {2:Kim et al., 2019})." +618727,"EDFAOB is characterized by linear hypopigmentation and craniofacial asymmetry in association with ocular, dental, and acral anomalies. Brain imaging has revealed some abnormalities, including diffuse cystic leukoencephalopathy and mildly enlarged lateral ventricles, but patients show no intellectual or neurologic impairment ({1:Vabres et al., 2019})." +618728,"The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs ({2:Le Caignec et al., 2019})." +618729,"Liang-Wang syndrome (LIWAS) is a polymalformation syndrome apparent from birth that shows large phenotypic variability and severity. However, all patients have some degree of neurologic dysfunction. The most severely affected individuals have severe global developmental delay with impaired intellectual development and poor or absent speech, marked craniofacial dysmorphism, and visceral and connective tissue abnormalities affecting the bones and vessels. The least severely affected individuals lack seizures, significant dysmorphism, and visceral involvement; they come to attention for neurologic signs and symptoms, including developmental delay with speech delay, strabismus, and/or ataxia. About half of patients have brain imaging anomalies, notably cerebral and cerebellar atrophy and thin corpus callosum, whereas the other half have normal brain imaging (summary by {1:Liang et al., 2019})." +618730,"Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) is an autosomal recessive disorder characterized by severe to profound global developmental delay, early-onset seizures, microcephaly, and polymicrogyria and/or cerebral atrophy on brain imaging. Most affected individuals are unable to walk or speak and have profoundly impaired intellectual development, as well as axial hypotonia and peripheral spasticity. Rare individuals may be less severely affected (summary by {2:Vandervore et al., 2019})." +618732,"Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a neurologic disorder characterized in most cases by early-onset seizures and variably impaired intellectual development (ID). The severity of neurologic impairment is highly variable: some patients may have refractory seizures and be bedridden with no meaningful speech, whereas others may have treatment-responsive seizures and achieve normal psychomotor development (summary by {1:Li et al., 2019})." +618734,"Rupture of an intracranial aneurysm (IA), an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage (SAH), a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by {1:Krischek and Inoue, 2006})." +618736,"Patients with BAIDCS have small head circumference with abnormalities in brain anatomy including variable deficiency of the corpus callosum (including agenesis), abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial rhombencephalosynapsis (absence of the cerebellar vermis with fusion of the cerebellar hemispheres). Intellectual development is moderately to severely impaired. Bicoronal synostosis, scoliosis, and tethered cord may be present ({2:Twigg et al., 2015}; {3:Vandervore et al., 2018}).\n\nCraniosynostosis-6 (CRS6; {616602}) is an allelic disorder." +618737,"Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (PAMDDFS) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum (summary by {1:Mitani et al., 2019})." +618741,"Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA) is an autosomal recessive disorder characterized by severely impaired global development apparent soon after birth. Affected individuals develop seizures in the first year of life and achieve almost no psychomotor progress, resulting in feeding difficulties and an inability to walk or speak. Other features include hypotonia, peripheral spasticity with contractures, cortical visual impairment, and dysmorphic features, including microcephaly. Death in childhood may occur (summary by {3:Van Bergen et al., 2020}).\n\n{3:Van Bergen et al. (2020)} noted that the molecular mechanism of this disorder can be classified into a group of similar phenotypes resulting from mutations in genes associated with transport protein particles, sometimes referred to as 'TRAPPopathies' (review by {2:Sacher et al., 2019})." +618744,"Developmental and epileptic encephalopathy-83 (DEE83) is a severe autosomal recessive neurodevelopmental disorder characterized by onset of frequent seizures in the first days to months of life that are usually refractory to medical treatment and are associated with significant EEG abnormalities. Affected individuals have profoundly impaired development, with no motor or language skill acquisition, poor or absent visual tracking, and poor oromotor function necessitating tube feeding. Many patients die in the first years of life (summary by {1:Perenthaler et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +618745,"Spermatogenic failure-42 (SPGF42) is characterized by infertility and spermatozoa with almost no progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece ({3:Lores et al., 2019}; {2:Liu et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +618748,"Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) is a neurodevelopmental disorder characterized by onset of hypotonia and variably impaired global developmental delay in infancy. Affected individuals tend to have learning disability, usually requiring special schooling, as well as behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder (ADHD). Additional more variable features may include nonspecific dysmorphic facial features, congenital heart defects, visual or ocular movement anomalies, and poor feeding and/or gastroesophageal reflux (summary by {1:Calpena et al., 2019})." +618751,"Spermatogenic failure-43 (SPGF43) is characterized by infertility and spermatozoa lacking progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Most flagella lack the central pair (9+0 configuration) on ultrastructural analysis ({3:Liu et al., 2019}; {4:Sha et al., 2019}; {2:Liu et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +618752,"Autosomal dominant severe congenital neutropenia-8 (SCN8) is a pleiotropic disorder with the consistent feature of decreased neutrophils associated with recurrent bacterial infections apparent from early infancy. Other hematologic parameters are usually normal, although some patients may have mild anemia. Bone marrow examination shows hypocellularity with arrested maturation of the granulocyte lineage at the level of promyelocytes or myeloblasts. Treatment with granulocyte colony-stimulating factor (GCSF; {138970}) is usually ineffective or only partially effective, whereas hematopoietic bone marrow transplantation is effective. A subset of patients have additional features, including exocrine pancreatic insufficiency, which resembles Shwachman-Diamond syndrome (see SDS1, {260400}), and/or neurologic deficits, including developmental delay, impaired intellectual development, speech delay, and/or autistic features (summary by {2:Carapito et al., 2017} and {1:Bellanne-Chantelot et al., 2018}).\n\nFor discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 ({202700})." +618760,"Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) is characterized by axial hypotonia apparent from birth, global developmental delay with impaired intellectual development and poor or absent language acquisition, and behavioral abnormalities, including autistic features, poor social interaction, and hang-wringing. Most patients have childhood-onset seizures that are usually responsive to medication, and a subset of patients develop cortical visual impairment and involuntary hyperkinetic movements, including chorea and dystonia. Some of the features are reminiscent of Rett syndrome (RTT; {312750}) (summary by {2:Salpietro et al., 2019})." +618761,"CATIFA syndrome is characterized by global developmental delay and impaired intellectual development ranging from mild to severe, with most patients exhibiting attention-deficit hyperactivity disorder (ADHD). Patients show an elongated face with long philtrum and small ears. Ocular anomalies include congenital cataracts, strabismus, and amblyopia, which may be associated with reduced vision; other anomalies include cleft lip and/or palate and misaligned teeth with extensive caries ({2:Unlu et al., 2020})." +618763,"Joubert syndrome-36 (JBTS36) is an autosomal recessive ciliopathy characterized by global developmental delay, ocular movement abnormalities, and mesoaxial polydactyly. Brain imaging may be normal or show the classic 'molar tooth sign.' There is some phenotypic similarity to and overlap with orofaciodigital syndrome VI (OFD6; {277170}) (summary by {1:Shaheen et al., 2019}).\n\nFor a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300})." +618766,"Neurogenic arthrogryposis multiplex congenita-4 with agenesis of the corpus callosum (AMC4) is a severe neurologic disorder with onset in utero. Affected individuals show little or no fetal movements and are born with significant contractures affecting the upper and lower limbs, as well as dysmorphic facial features. Other abnormalities include globally impaired development, optic atrophy, agenesis of the corpus callosum, seizures, and peripheral neuropathy. Many patients die in early childhood (summary by {2:Seidahmed et al., 2020})." +618767,"Meesmann corneal dystrophy-2 (MECD2) is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts. Although the disease is generally mild and affected individuals are often asymptomatic, some suffer from recurrent erosions leading to lacrimation, photophobia, and deterioration in visual acuity (summary by {4:Szaflik et al., 2008}).\n\nFor a discussion of genetic heterogeneity of Meesmann corneal dystrophy, see MECD1 ({122100})." +618768,"Spastic paraplegia-81 (SPG81) is an autosomal recessive neurologic disorder with onset in infancy. Affected individuals have delayed motor development, progressive spasticity, and other neurologic impairment, including impaired intellectual development and speech delay. Some patients may have additional features, including bifid uvula, microcephaly, seizures, and variable ocular anomalies. One severely affected patient was reported to have cortical visual loss, sensorineural deafness, and achievement of almost no developmental milestones. Brain imaging shows white matter abnormalities, hypomyelination with progressive white matter loss, and sometimes cerebral atrophy. These significant additional abnormalities enable classification of this disorder as a complicated form of SPG (summary by {1:Ahmed et al., 2017} and {2:Horibata et al., 2018}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +618770,"Autosomal recessive spastic paraplegia-82 (SPG82) is a progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some patients never achieve walking, whereas others lose the ability to walk or walk with an unsteady gait. Additional features include variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Based on the additional abnormalities, the disorder can be classified as a type of complicated SPG (summary by {1:Vaz et al., 2019}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +618773,"Lymphatic malformation-8 (LMPHM8) is an autosomal recessive disorder in which affected fetuses die in utero due to nonimmune hydrops fetalis (NIHF). The fetus and placenta are edematous with interstitial accumulation of fluid and abnormally shaped vessels. The disorder results from impaired lymphangiogenesis. Carrier females have reduced fertility and recurrent miscarriages likely due to NIHF (summary by {1:Mackie et al., 2018}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 ({153100})." +618774,"CEBALID syndrome is a complex developmental disorder characterized by global developmental delay, variably impaired intellectual development, and craniofacial and structural brain abnormalities. Common features include abnormal skull shape, characteristic facial features with midface hypoplasia, hypertelorism, and high-arched palate, and dysmorphic ears often associated with conductive or sensorineural deafness. Affected individuals have delayed walking and significant expressive speech and language delay, but many can attend special schools. Brain imaging shows crowding of the posterior fossa, including rhombencephalosynapsis (partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres), as well as perisylvian polymicrogyria and cerebellar hypoplasia/dysplasia (summary by {2:Mak et al., 2020}).\n\nSee also Gomez-Lopez-Hernandez syndrome (GLHS; {601853}), which has an overlapping phenotype." +618778,"DFNA75 is characterized by adult onset of moderate to severe, mid to high frequency hearing loss, progressing to involvement of all frequencies ({2:Xia et al., 2019})." +618779,"Coffin-Siris syndrome-11 (CSS11) is a syndromic neurodevelopmental disorder characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features. Most patients have distal anomalies, such as small hands and feet and hypoplastic fifth toenails (summary by {1:Nixon et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900})." +618780,"Multiple types of congenital heart defects-7 (CHTD7) is an autosomal dominant disorder with incomplete penetrance characterized mainly by tetralogy of Fallot but also including right-sided aortic arch, absent pulmonary valve, and other cardiac abnormalities ({1:Jin et al., 2017}, {2:Reuter et al., 2019})." +618781,"Primary ciliary dyskinesia-44 (CILD44) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder results in bronchiectasis. Although respiratory epithelial cell motile cilia are shorter than normal and overall ciliary motion is decreased, nasal nitric oxide, radial ciliary structure, and ciliary beat frequency are normal. In addition, patients do not have situs inversus (summary by {1:Chivukula et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +618782,"<Subhead> LQT16\n\nLong QT syndrome-16 (LQT16) is characterized by a markedly prolonged corrected QT (QTc) interval and 2:1 atrioventricular (AV) block, with onset in the perinatal period. Patients experience bradycardia or ventricular tachyarrhythmias that may result in syncope, cardiac arrest, and/or sudden death ({4:Reed et al., 2015}; {5:Wren et al., 2019}).\n\nPatients with LQT14 ({616247}), LQT15 ({616249}), or LQT16, resulting from mutation in calmodulin genes CALM1 ({114180}), CALM2 ({114182}), or CALM3, respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes ({1:Boczek et al., 2016}).\n\n<Subhead> CPVT6\n\nCatecholaminergic polymorphic ventricular tachycardia-6 (CPVT6) is characterized by childhood-onset syncopal episodes with exercise or stress. Electrocardiogram (ECG) shows a normal QT interval with a prominent U wave, and stress testing reveals premature ventricular contractions (PVCs) that may occur as bigeminy or couplets, and nonsustained ventricular tachycardia ({3:Gomez-Hurtado et al., 2016})." +618786,"Imagawa-Matsumoto syndrome (IMMAS) is characterized by variable pre- and postnatal overgrowth; dysmorphic features including postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge; and variable musculoskeletal abnormalities. Developmental delay and impaired intellectual development are common, whereas abnormalities of cerebral imaging are uncommon but may be significant. Some patients exhibit genitourinary abnormalities, and respiratory issues have been reported ({1:Cyrus et al., 2019})." +618787,"Autosomal dominant deafness-76 (DFNA76) is characterized by progressive or nonprogressive hearing loss with variable age at onset. Hearing loss is more severe at higher frequencies in most patients ({3:Schrauwen et al., 2019}; {2:Morgan et al., 2019}; {1:Diaz-Horta et al., 2019})." +618792,"Developmental and epileptic encephalopathy-84 (DEE84) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months or years of life. Affected individuals have severely impaired global development with impaired intellectual development, absent speech, and inability to walk. Other features include axial hypotonia, peripheral spasticity, feeding difficulties that sometimes necessitate tube feeding, and mild dysmorphic facial features. Brain imaging may show nonspecific findings such as cerebral/cerebellar atrophy and/or hypomyelination. The severity of the disorder is variable (summary by {1:Hengel et al., 2020}).\n\nFor a discussion of genetic heterogeneity of DEE, see {308350}." +618795,"Juvenile arthritis (JUVAR) is characterized by onset in early childhood of symmetric arthritis in multiple joints, associated with a marked increase in inflammatory markers. Some patients exhibit systemic symptoms, including quotidian fever, erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or splenomegaly. There is high clinical variability, even within the same family ({2:Karacan et al., 2018})." +618797,"Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT) is a severe autosomal recessive disorder characterized by neonatal respiratory distress, poor feeding, and impaired global development. Affected individuals are unable to walk or speak and have poor or absent eye contact. Some patients may develop seizures (summary by {2:Wagner et al., 2020})." +618798,"Beck-Fahrner syndrome (BEFAHRS) is a developmental disorder characterized by global developmental delay with variably impaired intellectual development. Affected individuals often have behavioral abnormalities, such as autistic features or attention deficit-hyperactivity disorder (ADHD), as well as learning disabilities. Most patients have hypotonia and dysmorphic facies. Some may have growth abnormalities, including overgrowth or poor growth, poor feeding, and rarely, seizures. Although both monoallelic and biallelic mutations have been reported, some heterozygous carriers in autosomal recessive families may have milder symptoms; thus, both groups are included in this entry (summary by {1:Beck et al., 2020})." +618800,"Autosomal recessive spinocerebellar ataxia-28 (SCAR28) is a neurologic disorder characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria. Affected individuals may have features of spasticity and may show mildly impaired cognitive function. Brain imaging shows cerebellar vermis hypoplasia (summary by {4:Walker et al., 2019})." +618801,"Primary ciliary dyskinesia-45 (CILD45) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder may result in bronchiectasis. Nasal nitric oxide may be decreased, but patients do not have situs abnormalities. Male patients have infertility due to immotile sperm (summary by {1:Thomas et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +618803,"Congenital juvenile respiratory papillomatosis (JRRP) is an autosomal recessive disorder characterized by the development of recurrent growth of papillomas (warts) on respiratory epithelial cells in the upper airway, particularly the larynx. Patients present in early childhood with hoarse voice and, in severe cases, respiratory stridor due to airway obstruction. Affected individuals may also have mild dermatologic abnormalities similar to those observed in AIADK. While JRRP is a genetic disorder resulting from abnormal activation of the immune system, RRP in general is usually associated with acquired HPV infection, commonly with HPV types 6 and 11 (summary by {1:Drutman et al., 2019})." +618804,"Sandestig-Stefanova syndrome (SANDSTEF) is an autosomal recessive developmental syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital cataract, microphthalmia, facial gestalt, camptodactyly, loss of periventricular white matter, thin corpus callosum, delayed myelinization, and poor prognosis ({2:Sandestig et al., 2019})." +618805,"Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease with marked clinical variability, even intrafamilially. In addition to cataract and developmental delay of variable severity, other features may include liver dysfunction, microcytic anemia, and cerebellar hypoplasia. Fatal cardiomyopathy with lactic acidosis has been observed ({1:Wortmann et al., 2020})." +618806,"Infantile T-cell lymphopenia with or without nail dystrophy (TLIND) is an autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, usually apparent from infancy. Patients are often identified through newborn screening with the finding of low levels of T-cell receptor excision circles (TRECs). Affected individuals tend to be more susceptible to recurrent infections, mainly respiratory viral infections. However, the severity is highly variable, and patients usually improve with age later in childhood and as adults, even if CD8+ T cells remain decreased compared to normal. Additional features may include a small thymic shadow, indicative of impaired thymic development, skin abnormalities, such as atopic dermatitis, and nail dystrophy. As rare patients may develop more serious infections, affected individuals should be monitored. Bone marrow transplantation is not curative (summary by {3:Bosticardo et al., 2019})." +618807,"Lipoprotein(a) is a macromolecular complex in human plasma which represents a quantitative genetic trait with a heritability of 0.7 or higher. Lipoprotein(a) is composed of an LDL-like particle in which apoB ({107730}) is covalently bound by a single disulfide bond to apolipoprotein(a). Apo(a) has been demonstrated to be the main determinant of the quantitative Lp(a) trait. Variation in the number of plasminogen (PLG)-like kringle (K) IV type 2 tandem repeats in the apo(a) gene is inversely correlated to Lp(a) plasma levels in all populations studied. Several polymorphisms in the Lp(a) gene have been found to affect the apo(a) concentration level (summary by {25:Ogorelkova et al., 1999})." +618808,"Intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA) is an autosomal recessive neurologic disorder characterized by global developmental delay apparent from infancy, hypotonia, and poor overall growth, sometimes with borderline microcephaly. The phenotype is highly variable: some patients may show ataxia and some may have seizures (summary by {2:Hu et al., 2019})." +618810,"Neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome (PHRINL) is an autosomal recessive multisystem disorder with onset in utero and death in the neonatal period. Rare patients may survive a few months. Affected infants show respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit. Additional features include corneal clouding, seizures, dysmorphic facies, contractures, and progressive pontocerebellar hypoplasia with simplified gyral pattern and white matter abnormalities. Some patients may have cardiac anomalies or cardiac hypertrophy. Laboratory studies show evidence consistent with mitochondrial defects and/or abnormal cholesterol or lipid metabolism. Depending on the type of mutation or deletion, some patients may have a less severe disorder (see GENOTYPE/PHENOTYPE CORRELATIONS) (summary by {1:Desai et al., 2017})." +618811,"Mitochondrial DNA depletion syndrome-18 (MTDPS18) is an autosomal recessive neuromuscular disorder characterized by early-onset progressive weakness and atrophy of the distal limb muscles, resulting in loss of ambulation as well as atrophy of the intrinsic hand muscles with clawed hands. Affected individuals may also develop scoliosis and have hypo- or hyperreflexia and decreased pulmonary vital capacity. Examination of skeletal muscle shows neurogenic atrophy and combined mitochondrial oxidative phosphorylation deficiency associated with mtDNA depletion. The clinical phenotype is reminiscent of spinal muscular atrophy (see SMA, {253300}) and the metabolic profile is reminiscent of 2-aminoadipic 2-oxoadipic aciduria (AMOXAD; {204750}), which is caused by mutation in the DHTKD1 gene ({614984}) (summary by {1:Boczonadi et al., 2018}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 ({603041})." +618815,"Autosomal dominant chromosome 1p36.33 duplication syndrome is a severe multisystemic disorder characterized by neonatal respiratory insufficiency, hypotonia, and cardiomyopathy, resulting in death in the first weeks of life. Affected infants may also have seizures, contractures, and corneal opacities. Brain imaging shows variable anomalies, such as white matter changes, and laboratory studies suggest that the phenotype results from metabolic defects in mitochondrial and cholesterol homeostasis (summary by {1:Gunning et al., 2020})." +618820,"Genitourinary and/or brain malformation syndrome (GUBS) is characterized by variable genitourinary anomalies, including disorders of sex differentiation, and brain abnormalities ranging from agenesis of the corpus callosum to anencephaly. Other variable congenital anomalies have been observed, including omphalocele and gastrointestinal tract atresia with aberrant vessels ({1:Hughes et al., 2020})." +618821,"Rhizomelic limb shortening with dysmorphic features (RLSDF) is characterized by rhizomelic shortening of upper and lower extremities and variable dysmorphic features, including macrocephaly, prominent forehead, depressed or broad nasal bridge, and micrognathia ({1:Sajan et al., 2019})." +618822,"Congenital myopathy with respiratory insufficiency and bone fractures (MYORIBF) is an autosomal recessive early-onset severe muscular disorder resulting in early death. Affected individuals present at birth with neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency. Laboratory investigations are consistent with a defect in early muscle development (summary by {1:Estan et al., 2019})." +618823,"Congenital proximal myopathy with minicore lesions (MYOPMIL) is an autosomal recessive early-onset muscular disorder affecting mainly the proximal muscles. Affected individuals have neonatal hypotonia followed by mildly delayed walking in childhood. They show slowly progressive, primarily proximal muscle weakness with Gowers sign and difficulty running or climbing, but they remain ambulatory. Cardiac function is unaffected, but most patients have obstructive sleep apnea. Muscle biopsy shows type 1 fiber predominance with disorganized Z-lines and multiminicore myopathy with areas devoid of NADH enzymatic activity and mitochondria, suggestive of abnormal early muscle development (summary by {1:Estan et al., 2019})." +618824,"Autosomal recessive idiopathic basal ganglia calcification-8 (IBGC8) is a progressive neurologic disorder with insidious onset of motor symptoms in adulthood. Affected individuals develop gait difficulties, parkinsonism, pyramidal signs, and dysarthria. Some may demonstrate cognitive decline or memory impairment. Brain imaging shows extensive calcifications in various brain regions including the basal ganglia, thalamus, and cerebellum. Because serum calcium and phosphate are normal, the disorder is thought to result from defects in the integrity of the neurovascular unit in the brain (summary by {2:Schottlaender et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 ({213600})." +618826,"Retinitis pigmentosa-88 (RP88) is characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity. Examination shows typical findings of RP, including attenuated retinal vessels, pale optic discs, and pigment deposits in the peripheral retinal pigment epithelium ({4:Zobor et al., 2018}; {3:Hu et al., 2019}; {1:Albarry et al., 2019}).\n\nFor a discussion of genetic heterogeneity of RP, see {268000}." +618827,"Myopia-27 (MYP27) is characterized by early-onset high myopia with increased axial lengths. Fundus changes include optic nerve head crescent and tigroid appearance of the posterior retina ({1:Ouyang et al., 2019})." +618828,"Nabais Sa-de Vries syndrome type 1 (NSDVS1) is characterized by global developmental delay apparent from infancy, variable behavioral abnormalities, microcephaly, and dysmorphic facial features, including round face, small palpebral fissures, highly arched eyebrows, and short nose. The severity is variable (summary by {1:Nabais Sa et al., 2020})." +618829,"Nabais Sa-de Vries syndrome type 2 (NSDVS2) is characterized by global developmental delay apparent from birth and distinctive dysmorphic facial features. Most patients have additional anomalies, including congenital heart defects, sleep disturbances, hypotonia, and variable endocrine abnormalities, such as hypothyroidism (summary by {1:Nabais Sa et al., 2020})." +618832,"Early-onset epilepsy with or without developmental delay (EPEDD) is an autosomal dominant neurologic disorder characterized by the onset of generalized tonic-clonic seizures in the first days, months, or years of life. The severity is highly variable: some patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging (summary by {1:Yu et al., 2019})." +618835,"Combined oxidative phosphorylation deficiency-40 (COXPD40) is an autosomal recessive mitochondrial disorder with onset in utero or soon after birth. Affected individuals have severe hypertrophic cardiomyopathy, poor growth, and sensorineural hearing loss. Laboratory studies show evidence of mitochondrial dysfunction, such as lactic acidosis. Patient-derived tissues and cells show variably decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with no reported patients surviving past infancy (summary by {1:Friederich et al., 2018}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +618839,"Combined oxidative phosphorylation deficiency-42 (COXPD42) is an autosomal recessive metabolic disorder characterized by onset of cardiomyopathy, respiratory insufficiency, lactic metabolic acidosis, and anemia in the first months of life. Patient tissue shows variable impairment of mitochondrial oxidative phosphorylation affecting mtDNA-encoded subunits I, III, and IV. All reported affected infants have died in the first year of life (summary by {1:Friederich et al., 2018}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +618840,"Alopecia-intellectual disability syndrome-4 (APMR4) is characterized by alopecia universalis, scaly skin, and psychomotor retardation of varying degrees ({1:Besnard et al., 2019}).\n\nFor a discussion of genetic heterogeneity of alopecia-mental retardation syndrome, see APMR1 ({203650})." +618841,"Hypogonadotropic hypogonadism-25 with anosmia (HH25) is characterized by delayed or absent puberty with low gonadotropic hormones in the setting of low testosterone or estradiol. Affected individuals also exhibit hyposmia or anosmia, with hypoplastic olfactory bulbs on MRI. Intrafamilial variable expressivity and incomplete penetrance has been observed ({1:Messina et al., 2020}).\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}." +618845,"Vertebral, cardiac, renal, and limb defects syndrome-3 (VCRL3) is an autosomal recessive disorder characterized by severe cardiac and renal anomalies that are lethal in infancy, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia ({1:Szot et al., 2020}).\n\nFor a discussion of genetic heterogeneity of VCRL, see VCRL1 ({617660})." +618846,"Diets-Jongmans syndrome (DIJOS) is an autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt (summary by {1:Diets et al., 2019})." +618847,"Immunodeficiency-66 (IMD66) is an autosomal recessive primary immune disorder caused by defective immune cell migration and chemotaxis resulting from defects in cytoskeletal actin dynamics. Neutrophils are primarily affected, although there may be defects in dendritic cells and T and B cells. The phenotype is characterized by onset of recurrent bacterial infections in infancy. Laboratory studies show normal levels of myeloid and lymphoid cells, but there may be mild thrombocytopenia (summary by {1:Record et al., 2015})." +618848,"Autosomal recessive limb-girdle muscular dystrophy-26 (LGMDR26) is a muscle disorder characterized by adult-onset weakness primarily affecting the proximal muscles of the lower limbs. The disorder is slowly progressive, with later involvement of the upper limbs and fatty replacement of muscle tissue apparent on MRI. Some patients may have calf hypertrophy. Serum creatine kinase is significantly elevated, and skeletal muscle biopsy shows typical dystrophic features with normal ultrastructural findings. There is no cardiac or respiratory involvement (summary by {1:Vissing et al., 2019}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive limb- girdle muscular dystrophy, see LGMDR1 ({253600})." +618850,"Hypervalinemia and hyperleucine-isoleucinemia (HVLI) is a branched-chain amino acid metabolic disorder characterized by highly elevated plasma valine and leucine concentrations. The patient presented in adulthood with headache and mild memory impairment, and had abnormal symmetric white matter signals on brain MRI ({2:Wang et al., 2015})." +618852,"Autoinflammation with episodic fever and lymphadenopathy (AIEFL) is an autosomal dominant immunologic disorder characterized by onset of recurrent episodes of unexplained fever beginning in early infancy. The episodes occur in a cyclic pattern with a frequency of every week or every few weeks and a duration of several days. Patients have accompanying lymphadenopathy, and some may have hepatosplenomegaly. Rash and genital ulcers are not observed. Patient serum shows increased levels of inflammatory cytokines and chemokines, including IL6 ({147620}) and TNF ({191160}), consistent with abnormal activation of the innate inflammatory system. Treatment with anti-IL6R ({147880}) antibodies may result in clinical improvement (summary by {1:Lalaoui et al., 2020})." +618853,"Anauxetic dysplasia-3 (ANXD3) is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. Radiographs show short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays ({2:Narayanan et al., 2019}).\n\nFor a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 ({607095})." +618855,"Combined oxidative phosphorylation deficiency-44 (COXPD44) is an autosomal recessive mitochondrial disorder with multisystemic manifestations. Most affected individuals present in infancy or early childhood with global developmental delay, hypotonia, and abnormal movements. Most patients develop seizures, often associated with status epilepticus, and some patients may have optic atrophy. One patient with hypertrophic cardiomyopathy has been reported. Serum lactate may be increased, although that finding is inconsistent. Detailed biochemical analysis shows variable combined deficiencies of mitochondrial oxidative complexes that appear to be tissue-specific (summary by {2:Wei et al., 2020}).\n\nFor discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +618856,"Permanent neonatal diabetes mellitus-2 (PNDM2) is characterized by onset of insulin-requiring hyperglycemia within the first months of life that requires insulin therapy throughout life. Some patients additionally have marked developmental delay, muscle weakness, and epilepsy ({4:Gloyn et al., 2004}). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND ({10:Shimomura et al., 2007}).\n\n{9:Proks et al. (2006)} stated that heterozygous activating mutations in KCNJ11 are the most common cause of PNDM and account for 26 to 64% of cases, and that neurologic features are found in 20% of patients with KCNJ11 mutations.\n\nFor a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 ({606176})." +618857,"Permanent neonatal diabetes mellitus-3 (PNDM3) is characterized by the onset of mild to severe hyperglycemia within the first months of life, and requires lifelong therapy (summary by {1:Babenko et al., 2006}). Some patients also have neurologic features, including developmental delay and epilepsy ({3:Proks et al., 2006}; {1:Babenko et al., 2006}). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND.\n\nFor a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 ({606176})." +618858,"Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life (summary by {4:Polak et al., 2008}).\n\nFor a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 ({606176})." +618859,"Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) is an early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder (ASD; {209850}) or Angelman syndrome (AS; {105830}). Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum (summary by {1:Mattioli et al., 2020})." +618862,"Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) is an autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. Most patients develop early-onset intractable seizures that prevent normal development. Additional features include feeding difficulties with poor overall growth and microcephaly. Some patients may have spastic quadriplegia, poor eye contact due to cortical blindness, variable dysmorphic features, and nonspecific abnormalities on brain imaging (summary by {2:Tan et al., 2020})." +618863,"Retinal dystrophy and leukodystrophy (RDLKD) is a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism. Patients exhibit ataxia and spastic paraparesis as well as developmental delay, and may show facial dysmorphism ({2:Ferdinandusse et al., 2017})." +618866,"Hereditary essential tremor-6 (ETM6) is an autosomal dominant neurologic disorder characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs. Some patients may have involvement of the head, trunk, lower limbs, and/or voice. Additional neurologic features, such as cognitive impairment or pyramidal signs, are usually not observed. Brain imaging does not show cerebellar atrophy or leukodystrophy. Skin biopsy shows intranuclear eosinophilic inclusions in fibroblasts and sweat gland cells, which may be used for diagnosis. There is evidence of genetic anticipation, with progressive earlier age at onset in younger generations. In rare cases, the phenotype may convert to NIID over time (summary by {3:Sun et al., 2020}; {2:Ng et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 ({190300})." +618868,"Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline (CONATOC) is an autosomal recessive progressive disorder with onset of symptoms in the first decade. Brain imaging may show variable features, including leukoencephalopathy and cerebellar atrophy (summary by {1:Fagerberg et al., 2020})." +618870,"CSGALNACT1 deficiency is characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly. Advanced carpotarsal bone age and monkey-wrench appearance of the femur observed in infancy may disappear with age ({2:Mizumoto et al., 2020})." +618872,"Nizon-Isidor syndrome (NIZIDS) is a neurodevelopmental disorder characterized by global developmental delay, mildly delayed walking, poor speech and language, variably impaired intellectual development, and behavioral abnormalities, such as autistic features or attention deficit-hyperactivity disorder (ADHD). Some patients may have additional features, including nonspecific facial dysmorphism, gastrointestinal difficulties, distal hand anomalies, and thin corpus callosum on brain imaging (summary by {1:Nizon et al., 2019})." +618873,"Lissencephaly-10 (LIS10) is a neurologic disorder characterized by variably delayed development with mildly to moderately impaired intellectual development and language delay, as well as seizures, which are often intractable. There is a spectrum of severity, with some patients having normal early development and only borderline to mild cognitive impairment. Brain imaging shows features consistent with neuronal migration defects, including posterior-predominant lissencephaly, pachygyria, agyria, and subcortical band heterotopia (summary by {2:Tsai et al., 2020}).\n\nFor a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 ({607432})." +618874,"The NF1 microduplication syndrome is characterized by mild to moderate impairment of intellectual development and mild facial dysmorphisms, with variable other features including early-onset baldness, tooth enamel hypoplasia, seizures, and macro- or microcephaly. Neurofibromas have not been reported (summary by {3:Moles et al., 2012})." +618875,"Early-onset seizures with neurodegeneration and brain calcifications (SENEBAC) is an autosomal recessive encephalopathy characterized by onset of refractory seizures in the first year of life. Affected individuals tend to have normal or mildly delayed development early in life, but show significant and progressive developmental regression associated with seizure onset. Features include hypotonia, peripheral spasticity, poor eye contact, and absent speech. Most require tube feeding; death in childhood may occur. Brain imaging shows cerebral atrophy, loss of white matter, and punctate calcifications, suggestive of abnormal neuroinflammation (summary by {2:Smith et al., 2020} and {1:Dong et al., 2020})." +618876,"Progressive myoclonic epilepsy-11 (EPM11) is a neurodegenerative disorder characterized by onset of developmental regression and various types of seizures around 2 years of age after relatively normal early development. The seizures are usually refractory to treatment and are associated with multiple abnormalities on EEG. During the first and second decades, affected individuals develop additional neurologic signs and symptoms, including pyramidal, extrapyramidal, and cerebellar signs such as spasticity, loss of independent ambulation, myoclonus, tremor, and ataxia. Cognitive impairment is severe, and patients can speak only a few words or are non-verbal (summary by {1:Hamanaka et al., 2020}).\n\nFor discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A ({254800})." +618877,"Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) is characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive (summary by {1:Mao et al., 2020})." +618879,"Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, delayed motor skills, and poor or absent speech. Most patients develop early-onset seizures and demonstrate cerebellar ataxia or dysmetria associated with progressive cerebellar atrophy on brain imaging. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by {2:Nguyen et al., 2020}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293})." +618880,"Primary closed-angle glaucoma (GLCC) is characterized by age-related variation in the degree of iridocorneal angle closure and its sequelae, with patients in the first 3 decades of life showing a normal eye exam, whereas older patients progressively show more evidence of angle closure and glaucomatous damage, including optic nerve head changes and visual field defects ({1:Suri et al., 2018})." +618881,"Galactosemia IV (GALAC4) is an inborn error of galactose metabolism that presents in the neonatal period. Of the 8 affected children that have thus far been reported, none had gastrointestinal symptoms or severe liver dysfunction. Two had bilateral cataracts. All had normal growth and development (summary by {2:Wada et al., 2019}).\n\nFor a discussion of genetic heterogeneity of galactosemia, see GALAC1 ({230400})." +618882,"Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN ({602997}) complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF; {609342}). In the kidney, AMN/CUBN interacts with the endocytic receptor megalin (LRP2; {600073}), which is important for the reabsorption of plasma proteins (summary by {6:Grasbeck, 2006}, {3:De Filippo et al., 2013}, and {13:Storm et al., 2013}).\n\nFor a discussion of genetic heterogeneity of Imerslund-Grasbeck syndrome, see {261100}." +618883,"Patients with familial isolated hypoparathyroidism-2 (FIH2) usually present with seizures, caused by hypocalcemia, in early life. Serum parathyroid hormone (PTH; {168450}) levels are low to undetectable. Hyperphosphatemia is present, and levels of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D may be within the normal range. Development can be normal if hypocalcemia is treated with calcium and vitamin D supplementation ({5:Ding et al., 2001}). Some patients have been found to lack parathyroid glands ({8:Thomee et al., 2005}).\n\nFor a discussion of genetic heterogeneity of familial isolated hypoparathyroidism, see FIH1 ({146200})." +618885,"Congenital disorder of glycosylation type IIt (CDG2t) is an autosomal recessive multisystemic metabolic disorder characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities. Most patients develop early-onset seizures; brain imaging tends to show white matter abnormalities. Variable dysmorphic features, including long face, almond-shaped eyes, protruding maxilla, and short philtrum, are also present. The disorder, which is associated with low levels of HDL cholesterol, results from defective posttranslational O-linked glycosylation of certain plasma lipids and proteins (summary by {2:Zilmer et al., 2020}).\n\nFor an overview of congenital disorders of glycosylation, see CDG1A ({212065}) and CDG2A ({212066})." +618886,"Pseudo-TORCH syndrome-3 (PTORCH3) is an autosomal recessive disorder of immune dysregulation and neuroinflammation apparent from early infancy. Affected individuals have developmental delay with acute episodes of fever and multisystemic organ involvement, including coagulopathy, elevated liver enzymes, and proteinuria, often associated with thrombotic microangiopathy. Brain imaging shows progressive intracranial calcifications, white matter abnormalities, and sometimes cerebral or cerebellar atrophy. Laboratory studies show abnormal elevation of interferon (IFN)-stimulated gene (ISG) transcripts consistent with a type I interferonopathy. The phenotype resembles the sequelae of intrauterine infection, but there is usually no evidence of an infectious agent. The disorder results from defects in negative regulation of the interferon immunologic pathway. Death in early childhood is common (summary by {1:Duncan et al., 2019} and {2:Gruber et al., 2020}).\n\nFor a discussion of genetic heterogeneity of PTORCH, see PTORCH1 ({251290})." +618889,"Liberfarb syndrome is a progressive disorder involving connective tissue, bone, retina, ear, and brain. Patients exhibit severe short stature and scoliosis with thoracic kyphosis and lumbar hyperlordosis. Severe joint laxity results in dislocations of elbows, hips, and knees. Eye findings are consistent with early-onset retinal degeneration, and there is moderate to severe early-onset hearing loss. Microcephaly is apparent by school age, and patients exhibit developmental delay and intellectual deficits ({3:Peter et al., 2019}). Clinical variability has been observed, with some patients presenting differences in the severity and location of skeletal dysplasia involvement as well as variation in other features of the syndrome ({1:Girisha et al., 2019}; {4:Zhao et al., 2019})." +618890,"Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) is an autosomal recessive neurologic disorder characterized by global developmental delay apparent from early infancy, poor overall growth often with microcephaly, impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum. Early death may occur (summary by {2:Bend et al., 2020})." +618891,"Microcephaly, developmental delay, and brittle hair syndrome (MDBH) is a multisystem disorder with clinical variability. Affected individuals show cognitive and motor disabilities, as well as some degree of fine, brittle hair with microscopic shaft abnormalities. Other shared features include failure to thrive in early childhood and short stature, with some patients exhibiting feeding difficulties and hepatic steatosis ({1:Kuo et al., 2019})." +618892,"Harderoporphyria (HARPO) is a rare erythropoietic variant form of hereditary coproporphyria (HCP; {121300}) characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. During childhood and adulthood, a mild residual anemia is chronically observed (review by {5:Schmitt et al., 2005})." +618901,"SRXX5 is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and congenital diaphragmatic hernia ({1:Bashamboo et al., 2018})." +618905,"Silver-Russell syndrome-2 (SRS2) is characterized by pre- and postnatal growth retardation, with relative sparing of cranial growth, triangular facies, and downturned corners of the mouth. Fifth-finger clinodactyly and facial, limb, or truncal asymmetry are also frequently present (summary by {16:Monk et al., 2000}).\n\nFor a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 ({180860})." +618906,"Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS), is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum. About half of patients develop seizures; brain imaging is typically normal. Additional features are highly variable, but may include chronic constipation, walking difficulties, and dysmorphic facial features (summary by {3:Guo et al., 2019})." +618907,"Silver-Russell syndrome-4 (SRS4) is characterized by intrauterine growth retardation followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face and prominent forehead, and relative macrocephaly at birth may be observed ({1:Abi Habib et al., 2018}).\n\nFor a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 ({180860})." +618908,"Silver-Russell syndrome-5 (SRS5) is characterized by intrauterine growth retardation, with feeding difficulties in early childhood and postnatal growth failure. Relative macrocephaly may be present at birth. Other dysmorphic features include triangular face with prominent forehead ({3:De Crescenzo et al., 2015}).\n\nFor a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 ({180860})." +618912,"Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDD) is an autosomal recessive disorder characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking. Onset of symptoms is usually in the first or second decades of life, although later adult onset has been reported; the disorder is slowly progressive. Nerve conduction velocities are most consistent with an axonal process. More variable features include distal sensory impairment, upper limb tremor, and scoliosis. Laboratory studies show increased serum sorbitol (summary by {1:Cortese et al., 2020})." +618913,"Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent ({1:Crocker et al., 1997} and {2:Hartmannova et al., 2016}).\n\nFor a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 ({134600})." +618914,"Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is characterized by phenotypic diversity, with patients exhibiting a range of overlapping phenotypes. Most patients show developmental delay ranging from mild to severe, and often have behavioral disorders as well. Brain imaging shows hypoplasia of the corpus callosum, prominence of lateral ventricles, and/or white matter abnormalities. Many patients have retro- or micrognathia, but mild prognathism has also been observed. Ocular anomalies are variably present, and may be severe and complex; however, some patients show only mild myopia. Abnormalities of fingers and toes include brachydactyly, clinodactyly, syndactyly, and contractures; polydactyly is rarely seen ({1:Holt et al., 2019})." +618915,"Autosomal dominant deafness-77 (DFNA77) is characterized by progressive hearing loss affecting high frequencies beginning in the second to third decades of life and affecting all frequencies by the fourth or fifth decades ({1:Li et al., 2019})." +618916,"Developmental and epileptic encephalopathy-87 (DEE87) is a neurologic disorder characterized by global developmental delay, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age. Affected individuals have severely impaired motor and cognitive development with little or absent speech and poor visual tracking. More variable features include facial dysmorphisms, joint laxity, and nonspecific brain imaging findings (summary by {1:Chung et al., 2020})." +618917,"Neurodevelopmental disorder with speech impairment and behavioral abnormalities (NEDLIB) is characterized by impaired intellectual development or developmental delay, behavioral abnormalities including autistic features, and language impairment. Other features include seizures and developmental regression ({1:Salpietro et al., 2019})." +618918,"Periventricular nodular heterotopia-9 (PVNH9) is an autosomal dominant neurologic disorder characterized as a malformation of cortical development. Anterior predominant PVNH, thin corpus callosum, and decreased white matter volume are found on brain imaging, but the clinical effects are variable. Most patients have impaired intellectual development and cognitive defects associated with low IQ (range 50 to 80), learning disabilities, and behavior abnormalities. Some patients develop seizures that tend to have a focal origin. However, some mutation carriers may be less severely affected with borderline or even normal IQ, suggesting incomplete penetrance of the phenotype (summary by {1:Heinzen et al., 2018}, {3:Walters et al., 2018}).\n\nFor a discussion of genetic heterogeneity of periventricular nodular heterotopia, see {300049}." +618920,"Arrhythmogenic right ventricular cardiomyopathy/dysplasia-14 (ARVD14) is characterized by palpitations, chest pain, and presyncope. Electrocardiography shows epsilon waves, T-wave inversion across anterior leads, premature ventricular contractions, ventricular tachycardia, and left bundle branch block. Dilation of the right ventricle with hypokinesia and aneurysmal changes are seen on echocardiography. Cardiac MRI may show fibrofatty infiltration, which has been confirmed by endocardial biopsy in some patients. Sudden death may occur ({2:Mayosi et al., 2017}).\n\nFor a discussion of genetic heterogeneity of ARVD, see ARVD1 ({107970})." +618922,"Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects. Death in childhood may occur (summary by {2:Marafi et al., 2020})." +618924,"Episodic ataxia type 9 (EA9) is a neurologic disorder characterized by onset of ataxic episodes in the first years of life. Features may include difficulty walking, dizziness, slurred speech, headache, vomiting, and pain. The ataxic episodes vary in frequency and duration; most tend to occur every few weeks or months and last minutes to hours. Prior to the EA, most patients have neonatal- or infantile-onset tonic or generalized tonic-clonic (GTC) seizures that may be severe and refractory to medication, but remit later in infancy or early childhood, either spontaneously or concurrently with medication. Some patients have mildly delayed development with speech delay and/or autistic features or mildly impaired intellectual development. However, others show normal psychomotor development. Treatment of the ataxic episodes with acetazolamide is effective in about 50% of patients (summary by {7:Schwarz et al., 2019}).\n\nFor a phenotypic description and discussion of genetic heterogeneity of episodic ataxia, see EA1 ({160120})." +618929,"Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies ({1:Accogli et al., 2019})." +618935,"Autosomal recessive chronic granulomatous disease-5 (CGD5) is a primary immunodeficiency characterized by onset of recurrent infections and severe colitis in the first decade of life. Patients often present with features of inflammatory bowel disease and may show granulomata on biopsy. Patients are particularly susceptible to catalase-positive organisms, including Burkholderia cepacia, Legionella, and Candida albicans. Some patients may develop autoinflammatory symptoms, including recurrent fever in the absence of infection, hemolytic anemia, and lymphopenia. Additional features may include short stature, viral infections, cutaneous abscesses, pulmonary infections, and lymphadenitis. Hematopoietic bone marrow transplant is curative. The disorder results from impaired oxidative burst via the NAPDH oxidative complex in macrophages and neutrophils (summary by {1:Arnadottir et al., 2018} and {3:Thomas et al., 2019}).\n\nFor a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; {306400})." +618939,"Treacher Collins syndrome-4 (TCS4) is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia. Most patients have conductive deafness with atretic external ear canals. Choanal atresia and cleft palate have also been observed ({1:Sanchez et al., 2020})." +618940,"Oculopharyngodistal myopathy-2 (OPDM2) is an autosomal dominant muscle disorder characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. The disorder is slowly progressive, and patients develop facial weakness, bulbar weakness, and difficulty walking or climbing stairs. Some patients may have upper limb involvement and subclinical respiratory insufficiency. Laboratory studies show increased serum creatine kinase; skeletal muscle biopsy shows myopathic changes with abnormal cytoplasmic and intranuclear inclusions (summary by {1:Deng et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OPDM, see OPDM1 ({164310})." +618944,"Autosomal recessive hyper-IgE recurrent infection syndrome-5 (HEIS5) is an immunologic disorder characterized by onset of recurrent sinopulmonary and deep skin infections in early childhood. The infections are mostly caused by bacteria, including H. influenza and Staphylococcus aureus. Additional features include atopic dermatitis, impaired inflammatory responses during infection, increased serum IgE, and increased IL6 ({147620}) (summary by {1:Spencer et al., 2019}).\n\nFor a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see HIES1 ({147060})." +618947,"Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disorder characterized by severe joint contractures apparent at birth. Affected individuals usually have hypertonia and abnormal movements suggestive of dystonia, as well as feeding and/or breathing difficulties. More variable features may include poor overall growth, strabismus, dysmorphic facies, and global developmental delay with impaired speech (summary by {2:Kariminejad et al., 2017})." +618948,"Visceral heterotaxy-9 (HTX9) is an autosomal recessive disorder characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia. Affected males are infertile mainly due to defective sperm motility, whereas affected females do not appear to have fertility problems. The disorder results from impaired function of the embryonic nodal cilia and sperm flagella. However, patients do not have classic respiratory symptoms of primary ciliary dyskinesia (see, e.g., CILD; {244400}). The phenotype is highly variable; some affected individuals may be identified incidentally (summary by {2:Ta-Shma et al., 2018} and {1:Leslie et al., 2020}).\n\nFor a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 ({306955})." +618950,"Suleiman-El-Hattab syndrome (SULEHS) is an autosomal recessive multisystem developmental disorder characterized by hypotonia and feeding difficulties soon after birth, global developmental delay with impaired intellectual development and poor expressive speech, and a general happy demeanor. There is a distinctive facial appearance with microcephaly, thick arched eyebrows with synophrys, hypertelorism, epicanthal folds, low-set ears, broad nasal bridge, and thin upper lip. Additional more variable features include recurrent respiratory infections, cardiovascular malformations, cryptorchidism, seizures, and distal anomalies of the hands and feet (summary by {2:Suleiman et al., 2019})." +618951,"Combined oxidative phosphorylation deficiency-45 (COXPD45) is an autosomal recessive multisystem disorder characterized by poor overall growth apparent from infancy, global developmental delay, seizures, and acute progressive neurologic deterioration with loss of skills. Other features may include dysmorphic facies and lesions on brain imaging. Laboratory studies show increased serum lactate and COXPD in patient tissues, consistent with a mitochondrial defect (summary by {1:Serre et al., 2013}).\n\nFor discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +618954,"CYP4Z2P is a transcribed pseudogene that appears to function as a competitive endogenous RNA for CYP4Z1 ({618953}) ({2:Zheng et al., 2015})." +618955,"Retinitis pigmentosa-89 (RP89) is characterized by classic features of RP as well as features of ciliopathy, including postaxial polydactyly and renal and hepatic disease. Onset of symptoms is within the first decade of life ({1:Cogne et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of RP, see {268000}." +618959,"Developmental and epileptic encephalopathy-88 (DEE88) is an autosomal recessive severe neurologic disorder characterized by global developmental delay, early-onset epilepsy, and progressive microcephaly. Brain MRI findings may include corpus callosum abnormalities, prominent ventricles, and mild hypoplasia of the inferior vermis and pons ({1:Broeks et al., 2019}).\n\nFor a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see {308350}." +618960,"Mitchell syndrome (MITCH) is a progressive disorder characterized by episodic demyelination, sensorimotor polyneuropathy, and hearing loss ({1:Chung et al., 2020})." +618961,"Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) is characterized by short stature due to short proximal and distal long bones. Affected individuals also exhibit narrow thorax with pulmonary hypoplasia and respiratory failure, as well as corneal dystrophy. Severe developmental delay has been observed ({1:Ben-Salem et al., 2018})." +618963,"Immunodeficiency-69 (IMD69) is an autosomal recessive disorder characterized by increased susceptibility to disseminated mycobacterial infection, including after BCG (bacille Calmette-Guerin) vaccination. Affected individuals develop fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection. There appears to be normal immunologic function against other pathogens, including viruses and bacteria. Immunologic work-up shows normal parameters, but patient T and NK cells fail to produce gamma-interferon (IFNG) when stimulated in vitro (summary by {1:Kerner et al., 2020}).\n\nIMD69 is a form of mendelian susceptibility to mycobacterial disease (MSMD) (see, e.g., IMD27A; {209950})." +618969,"Immunodeficiency-70 (IMD70) is an autosomal dominant immunologic disorder characterized by severe cutaneous warts on the hands, feet, and face, suggesting increased susceptibility to human papillomavirus (HPV) infection. Affected individuals may also have recurrent bacterial infections, such as sinusitis, as well as feature of autoinflammation, such as colitis, celiac disease, and retinal vasculitis. Laboratory studies show decreased CD4+ T cells and decreased CD19+ B cells; hypogammaglobulinemia has also been observed (summary by {1:Thaventhiran et al., 2020})." +618970,"Congenital nonprogressive cone-rod synaptic disorder syndrome (CRSDS) is characterized by retinal and neurodevelopmental disease as well as occasional anomalies of glucose homeostasis. Patients exhibit low vision, photophobia, and nystagmus, and show an electronegative waveform in response to bright flash under dark adaptation on electroretinography, with severely reduced and delayed light-adapted responses. Neurodevelopmental features include poor to no language and autistic behaviors ({1:Mechaussier et al., 2020})." +618971,"Tolchin-Le Caignec syndrome (TOLCAS) is a developmental disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes. Many patients have bony abnormalities, including osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference. Rarely, additional congenital anomalies may also be observed. These additional features and the bony defects are highly variable (summary by {1:Tolchin et al., 2020})." +618973,"Sodium-dependent multivitamin transporter deficiency (SMVTD) is an autosomal recessive multisystemic metabolic disorder with highly variable manifestations. Affected individuals usually present at birth or in infancy with severe feeding problems, gastrointestinal reflux, cyclic vomiting, and diarrhea associated with failure to thrive. Gastrointestinal hemorrhage may occur; tube-feeding is often required for a short time. The course and severity of the disease varies: some patients have episodes of acute metabolic decompensation during infection that respond well to treatment, whereas others show more permanent neurologic regression with loss of early motor and cognitive milestones in the first year or so of life. Less severely affected patients have normal development or mild growth and motor delays, whereas more severely affected individuals may have seizures, ataxia, spasticity, peripheral neuropathy, immune defects, and osteopenia. In severely affected patients, brain imaging shows cerebral, cerebellar, and brainstem atrophy and thin corpus callosum. Treatment with biotin, pantothenic acid, and alpha-lipoic acid has been shown to result in significant clinical improvement ({1:Byrne et al., 2019}; {2:Hauth et al., 2022})." +618974,"Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is a neurodevelopmental disorder characterized by global developmental delay, mild to moderately impaired intellectual development with language delay, and mild dysmorphic features. Affected individuals may have behavioral abnormalities and difficulties with numbers and understanding certain concepts, such as money. Some patients have seizures. Brain imaging often shows enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia, suggesting abnormal cortical brain development. More variable additional features may be present (summary by {1:Li et al., 2020})." +618975,"Congenital myopathy with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies (MYODRIF) is an autosomal recessive muscle disorder. Affected individuals present at birth with hypotonia and respiratory insufficiency associated with high diaphragmatic dome on imaging. Other features include poor overall growth, pectus excavatum, dysmorphic facies, and renal anomalies in some. The severity of the disorder is highly variable: some patients may have delayed motor development with mildly decreased endurance, whereas others have more severe hypotonia associated with distal arthrogryposis and lung hypoplasia, resulting in early death (summary by {3:Watson et al., 2016} and {1:Lopes et al., 2018})." +618977,"Optic atrophy-12 (OPA12) is an autosomal dominant neurologic disorder characterized by slowly progressive visual impairment with onset usually in the first decade, although later onset has been reported. Affected individuals have impaired color vision, photophobia, pale optic discs, optic nerve atrophy, and decreased thickness of the retinal nerve fiber layer. Some patients may exhibit additional neurologic features, including impaired intellectual development, dystonia, movement disorders, or ataxia (summary by {2:Caporali et al., 2020}).\n\nFor a discussion of genetic heterogeneity of optic atrophy, see OPA1 ({165500})." +618982,"Immunodeficiency-72 with autoinflammation (IMD72) is an autosomal recessive immunologic disorder characterized by onset of recurrent infections or systemic inflammation in the first year of life. Affected individuals develop bacterial and viral infections that can be severe, including bacteremia, recurrent pneumonia, and meningitis, consistent with an immunodeficiency. There is also an autoimmune and hyperinflammatory aspect to the disorder, manifest as atopy or allergies, hepatosplenomegaly, and lymphoproliferation. Immunologic workup shows variable abnormalities, including low or high Ig subsets, increased B cells, irregular T-cell activation and cytokine response, impaired immune synapse formation, and defective cellular migration. At the cellular level, these defects are related to abnormal F-actin polymerization and altered intracellular signaling (summary by {1:Cook et al., 2020})." +618985,"Autosomal dominant growth hormone insensitivity syndrome with immune dysregulation-2 (GHISID2) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; {139250}). Affected individuals usually have delayed bone age, delayed puberty, and decreased serum IGF1 ({147440}). Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease (summary by {1:Klammt et al., 2018})." +618986,"Immunodeficiency-73B with defective neutrophil chemotaxis (IMD73B) is an autosomal dominant immunologic disorder characterized by onset of recurrent infections in infancy or early childhood. Affected individuals develop respiratory infections, cellulitis, and severe invasive infections or sepsis; organisms include bacteria such as Staphylococcus, as well as viruses, fungi, and mycobacterial species. Laboratory studies show variable abnormalities, including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TRECs and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis. Hematopoietic stem cell transplantation is curative (summary by {1:Hsu et al., 2019}; review by {2:Lougaris et al., 2020}).\n\nIn a review of autosomal forms of chronic granulomatous disease (see {306400} for genetic heterogeneity of CGD), {4:Roos et al. (2021)} noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity." +618998,"Immune dysregulation and systemic hyperinflammation syndrome (IMDYSHI) is an autosomal recessive immunologic disorder characterized by systemic hyperinflammation in the absence of an infectious agent or autoimmune trigger. Features include lymphadenopathy, hepatosplenomegaly, recurrent fever, and laboratory evidence of immune dysregulation with abnormal immune cell populations and increased serum levels of inflammatory cytokines. The phenotype is reminiscent of relapsing hemophagocytic lymphohistiocytosis (HLH; see FHL1, {267700}) (summary by {1:Tavernier et al., 2019})." +618999,"Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) is an autosomal dominant disorder characterized by onset of severe atopic dermatitis and chronic gastrointestinal inflammation, mainly involving the colon, in infancy or early childhood. Affected individuals tend to have asthma and food or environmental allergies, as well as poor overall growth with short stature. Laboratory studies show increased eosinophils with normal IgE levels, as well as evidence of a hyperactive immune state, including increased erythrocyte sedimentation rate and C-reactive protein. Treatment with JAK inhibitors, such as ruxolitinib and tofacitinib, results in dramatic clinical improvement (summary by {2:Gruber et al., 2020})." +619000,"Intellectual developmental disorder with seizures and language delay (IDDSELD) is characterized by global developmental delay with speech and language impairment and onset of seizures usually in the first few years of life. Seizures tend to be myoclonic, although variable types have been reported. Many patients have accompanying behavioral abnormalities, most commonly autism spectrum disorder and anxiety. Additional features, such as facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed (summary by {6:Roston et al., 2021})." +619004,"DEEAH syndrome is an autosomal recessive multisystemic disorder with onset in early infancy. Affected individuals usually present in the perinatal period with respiratory insufficiency, apneic episodes, and generalized hypotonia. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Other common features include endocrine, pancreatic exocrine, and autonomic dysfunction, as well as hematologic disturbances, mainly low hemoglobin. Patients also have dysmorphic and myopathic facial features. Additional more variable features include seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur (summary by {2:Schneeberger et al., 2020})." +619005,"Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) is an autosomal recessive disorder characterized by global developmental delay and mildly to severely impaired intellectual development with poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism. Aside from dysmorphic facial features and occasional findings such as scoliosis or undescended testes, other organ systems are not involved (summary by {3:Schneeberger et al., 2020})." +619007,"Retinitis pigmentosa-90 (RP90) is characterized by early-onset night blindness, within the first decade of life. Patients exhibit other typical features of RP, including retinal vessel attenuation, optic disc pallor, and retinal pigment epithelium (RPE) atrophy and pigmentation abnormalities. Macular pseudocoloboma and cystoid macular edema have also been observed ({2:Pierrache et al., 2017}).\n\nFor a discussion of genetic heterogeneity of RP, see {268000}." +619009,"Oocyte maturation defect-8 (OOMD8) is characterized by female infertility due to failure of the fertilized ovum to undergo zygotic cleavage ({1:Zheng et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774})." +619011,"Oocyte maturation defect-9 (OOMD9) is characterized by female infertility due to oocyte meiotic arrest at metaphase I in most patients. Abnormal zygotic cleavage has also been observed ({1:Zhang et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774})." +619013,"Rajab interstitial lung disease with brain calcifications-2 (RILDBC2) is an autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts ({1:Krenke et al., 2019}).\n\nFor a discussion of genetic heterogeneity of RILDBC, see RILDBC1 ({613658})." +619016,"Follicular ichthyosis, atrichia, and photophobia syndrome-2 (IFAP2) is characterized by ichthyosis follicularis or follicular hyperkeratosis, sparse to no body hair, and photophobia with corneal lesions. Ultrastructural hair analysis shows trichorrhexis nodosa ({1:Wang et al., 2020}).\n\nFor a discussion of genetic heterogeneity of IFAP syndrome, see IFAP1 ({308205})." +619026,"Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances, episodic respiratory failure, and nonspecific dysmorphic facial features. The intellectual impairment is variable, ranging from poor visual contact with inability to walk or speak to milder intellectual disability with the ability to say some words. Brain imaging shows variable white matter abnormalities, including thin corpus callosum and poor myelination (summary by {2:Husain et al., 2020})." +619027,"Autosomal recessive spastic paraplegia-83 (SPG83) is a neurologic disorder characterized by progressive lower limb spasticity resulting in gait instability. Patients develop symptoms in the second decade, consistent with juvenile onset. Some patients may have myalgia or mild dysarthria, but the phenotype is considered to be a pure type of SPG with no additional neurologic abnormalities (summary by {2:Husain et al., 2020}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +619028,"Coenzyme Q10 deficiency-9 (COQ10D9) is an autosomal recessive disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in the first decade of life. Some patients may have additional neurologic signs and symptoms, including intellectual disability and seizures. Treatment with CoQ10 may offer clinical benefit (summary by {1:Malicdan et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 ({607426})." +619031,"IDDEBF is a severe disorder characterized by impaired intellectual development, epilepsy, behavioral abnormalities, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes ({1:Kvarnung et al., 2018})." +619033,"Vissers-Bodmer syndrome (VIBOS) is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy. The phenotype is highly variable: some individuals have only mild learning difficulties, whereas others have severe cognitive impairment with IQ in the 50s. Many patients have behavioral abnormalities, including autism spectrum disorder, ADD, ADHD, obsessive-compulsive disorder, and impulsivity. Other common features include growth impairment abnormalities, hypotonia, and distal skeletal defects, such as foot and hand deformities. Less common features include seizures, brain abnormalities on MRI, feeding problems, and joint hypermobility. Most individuals have dysmorphic facial features, but there is no recognizable gestalt (summary by {3:Vissers et al., 2020})." +619036,"Myopathy, epilepsy, and progressive cerebral atrophy (MEPCA) is a severe autosomal recessive disorder with onset in utero or at birth. Affected individuals have hypotonia with respiratory or feeding difficulties apparent from birth and often associated with contractures of the large joints. There is little spontaneous movement: skeletal muscle biopsy and electrophysiologic studies are consistent with a myopathy or myasthenic disorder. Patients also develop refractory seizures with burst-suppression pattern or hypsarrhythmia on EEG. Brain imaging shows progressive cerebral atrophy and myelination defects. All patients reported to date died within the first year of life (summary by {1:Schorling et al., 2017})." +619040,"Myofibrillar myopathy-10 (MFM10) is an autosomal recessive structural muscle disorder characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life. Some patients have mild contractures of the large joints apparent in early childhood. Affected individuals have a characteristic appearance of a thick neck and prominent shoulder girdle with anteverted shoulders and a tendency toward kyphosis. There is no apparent muscle weakness, but some affected individuals show progressive muscle rigidity leading to limited mobility. There is variable cardiac involvement, ranging from chest pain with left ventricular hypertrophy to subclinical signs such as abnormal EKG or elevated cardiac enzymes. Skeletal muscle biopsy shows structural abnormalities with myofibrillar disorganization and accumulation of autophagocytic vacuoles (summary by {1:Hedberg-Oldfors et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 ({601419})." +619041,"Monosomy 7 myelodysplasia and leukemia syndrome-2 (M7MLS2) is an autosomal dominant hematologic disorder characterized by onset of pancytopenia, acute myelogenous leukemia (AML), and variable features of myelodysplastic syndrome (MDS) usually in the first decades of life. Bone marrow cells show monosomy 7. Germline mutations in the SAMD9 gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by {3:Wong et al., 2018}).\n\nFor a discussion of genetic heterogeneity of monosomy 7 myelodysplasia and leukemia syndrome, see {252270}." +619042,"The James type of infantile spinal muscular atrophy (SMAJI) is a severe neuromuscular disorder with onset of hypotonia in the first weeks or months of life. Some patients may have normal early motor development prior to the onset of symptoms, but all show delayed motor milestones with loss of previous motor skills in the first year of life. There is muscle weakness and atrophy, primarily affecting distal muscles, resulting in the inability to walk independently and causing impairment of fine motor skills of the hands. The disorder is slowly progressive: additional features may include feeding difficulties with failure to thrive, foot deformities, hyperlordosis, scoliosis, vocal cord weakness, and respiratory insufficiency, which may require intervention. Laboratory studies are most consistent with a motor neuronopathy, although skeletal muscle biopsy may also show myopathic features. This disorder is considered to be at the most severe end of the phenotypic spectrum of disorders caused by mutations in the GARS1 gene. The disorder is phenotypically similar to SMA1 ({253300}) (summary by {1:Eskuri et al., 2012}; {4:Markovitz et al., 2020})." +619044,"Spermatogenic failure-44 (SPGF44) is characterized by male infertility due to headless sperm in the ejaculate ({1:Sha et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619046,"Mitochondrial complex IV deficiency nuclear type 3 (MC4DN3) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present with encephalomyopathic features in early infancy, whereas others may present later in infancy or the first years of life after normal early development. Affected individuals show hypotonia, failure to thrive, and developmental delay or regression with poor eye contact and loss of motor skills with ataxia. Additional features observed in some patients include proximal renal tubulopathy, macrocytic anemia, sensorineural hearing loss, nystagmus, and hypertrophic cardiomyopathy, consistent with systemic involvement. Brain imaging in most patients shows lesions consistent with Leigh syndrome (see {256000}). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV. Most patients die in infancy (summary by {3:Valnot et al., 2000} and {1:Antonicka et al., 2003}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619048,"Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and neurologic distress. Additional features include hepatomegaly, hepatic steatosis, increased serum lactate, and metabolic acidosis. Some patients may develop hypertrophic cardiomyopathy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death usually occurs in infancy (summary by {2:Valnot et al., 2000} and {1:Stiburek et al., 2009}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619051,"Mitochondrial complex IV deficiency nuclear type 7 (MC4DN7) is an autosomal recessive metabolic encephalomyopathic disorder with highly variable manifestations. Only a few patients have been reported. Some patients have normal early development then show rapid neurodegeneration with progressive muscle weakness, gait disturbances, and cognitive decline in mid to late childhood. Other features may include seizures and visual impairment. Brain imaging shows progressive leukodystrophy with cystic lesions. In contrast, at least 1 patient has been reported who presented in the neonatal period with metabolic acidosis, hydrocephalus, hypotonia, and cortical blindness. This patient developed hypertrophic cardiomyopathy resulting in early death. All patients had increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by {2:Massa et al., 2008} and {1:Abdulhag et al., 2015}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619052,"Mitochondrial complex IV deficiency nuclear type 8 (MC4DN8) is an autosomal recessive metabolic disorder characterized by the onset of neuromuscular symptoms in the first decade of life after normal early development. Affected individuals develop a slowly progressive decline in neurologic function with gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability. Other features may include facial hypotonia, optic atrophy with visual impairment, nystagmus, muscle rigidity, and loss of ambulation. Rare patients may have renal tubulopathy. Brain imaging shows T2-weighted hyperintensities in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Serum lactate is often increased, and patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by {2:Seeger et al., 2010}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619053,"Mitochondrial complex IV deficiency nuclear type 10 (MC4DN10) is an autosomal recessive multisystem metabolic disorder characterized by the onset of severe symptoms soon after birth. Affected infants have respiratory and neurologic distress, metabolic lactic acidosis, and dysmorphic features, including microphthalmia. Death occurs in early infancy. Postmortem examination has demonstrated systemic involvement with hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. There is also abnormal brain myelination and cavitating brain lesions. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Weraarpachai et al., 2012}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619054,"Mitochondrial complex IV deficiency nuclear type 11 (MC4DN11) is an autosomal recessive metabolic disorder characterized by a childhood-onset sensory neuronopathy and additional features which may include hypotonia, cerebellar ataxia, tremor, dystonia, choreoathetosis, and/or dysarthria. Patients may have variable motor delay, speech delay, or impaired intellectual development (summary by {2:Doss et al., 2014}; {3:Otero et al., 2019}; {5:Xu et al., 2019}; {1:Dong et al., 2021}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619055,"Mitochondrial complex IV deficiency nuclear type 12 (MC4DN12) is an autosomal recessive metabolic disorder characterized by the onset of neurologic dysfunction in early infancy. Affected individuals demonstrate hypotonia with poor head control, profoundly delayed global development with inability to fix and follow, poor overall growth, abnormal spasms or myoclonus, and seizures. Most patients die in the first years of life; those that survive have spastic quadriplegia, feeding difficulties necessitating tube feeding, and profoundly impaired intellectual development with poor or absent communication. More variable features include cortical blindness, nystagmus, scoliosis, and hearing impairment. Brain imaging shows abnormalities consistent with Leigh syndrome (see {256000}), as well as cystic cavitation. Laboratory studies show lactic acidosis, increased serum creatine kinase, and decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Lim et al., 2014}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619056,"Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) is characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition. Additional features include dysmorphic facies, distal limb anomalies, gastrointestinal problems or feeding difficulties, and hypotonia. The phenotypic features and severity of the disorder are variable (summary by {3:Kummeling et al., 2021})." +619058,"Mitochondrial complex IV deficiency nuclear type 14 (MC4DN14) is an autosomal recessive metabolic disorder characterized by global developmental delay, exercise intolerance, walking difficulties, impaired intellectual development, short stature, mild dysmorphic features, and sensorimotor peripheral neuropathy. Patient skeletal muscle tissue shows decreased levels and activity of mitochondrial respiratory complex IV ({1:Ostergaard et al., 2015}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619059,"Mitochondrial complex IV deficiency nuclear type 15 (MC4DN15) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show global developmental delay, poor feeding, short stature with microcephaly, proximal muscle weakness, and distal spasticity. Other manifestations include scoliosis, primary pulmonary hypertension, childhood-onset refractory seizures, and inability to walk. Brain imaging shows features consistent with Leigh syndrome (see {256000}) and enlarged ventricles. Laboratory studies show increased serum and CSF lactate, as well as decreased levels and activity of mitochondrial respiratory complex IV (summary by {1:Hallmann et al., 2016}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619060,"Mitochondrial complex IV deficiency nuclear type 16 (MC4DN16) is an autosomal recessive metabolic disorder with highly variable manifestations. Common features include failure to thrive with poor overall growth, short stature, and microcephaly. Some patients additionally have neurologic involvement, including developmental regression with severe hypotonia, feeding difficulties, and seizures. Brain imaging in the more severely affected patients shows cerebral and cerebellar atrophy and abnormal lesions in the basal ganglia. In all cases, patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (summary by {2:Pillai et al., 2019}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619061,"Mitochondrial complex IV deficiency nuclear type 17 (MC4DN17) is an autosomal recessive neurometabolic disorder with somewhat variable clinical manifestations and severity. Most affected individuals present in early childhood with motor and gait difficulties after normal early development. These motor abnormalities progress to spastic tetraparesis, sometimes resulting in loss of ambulation. Many patients also show episodic developmental regression: some have impaired cognition and dysarthria, although others have normal speech and cognition. More variable features include seizures and sensorimotor polyneuropathy. The clinical features tend to stabilize over time. Brain imaging shows a cavitating leukodystrophy, and laboratory studies show variably decreased levels and activity of mitochondrial respiratory complex IV in patient tissues ({1:Melchionda et al., 2014}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619062,"Mitochondrial complex IV deficiency nuclear type 18 (MC4DN18) is an autosomal recessive metabolic disorder that primarily affects skeletal muscle tissue. Affected individuals present in infancy with hypotonia, limb muscle weakness, and high-arched palate. The severity of the disorder is variable: some patients may only have gait difficulties, whereas others may also have significant respiratory insufficiency and cardiomyopathy. Death in infancy has been reported. Patient skeletal muscle shows decreased levels and activity of mitochondrial respiratory complex IV ({1:Inoue et al., 2019}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619063,"Mitochondrial complex IV deficiency nuclear type 19 (MC4DN19) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy. Serum lactate is increased; T2-weighted lesions in the medulla oblongata have also been reported. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV ({1:Renkema et al., 2017}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619064,"Mitochondrial complex IV deficiency nuclear type 20 (MC4DN20) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and global developmental delay. Additional features include elevated liver enzymes, increased serum lactate, metabolic acidosis, and pulmonary arterial hypertension (PAH), which may result in cardiorespiratory failure and early death. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV ({1:Baertling et al., 2017}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619065,"Mitochondrial complex IV deficiency nuclear type 21 (MC4DN21) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals present with congenital lactic acidosis and later show global developmental delay with delayed speech and learning disabilities. Additional features include motor dysfunction manifest as spasticity, dystonia, and pyramidal tract signs. Ataxia, peripheral neuropathy, and seizures may also occur. Brain imaging shows T2-weighted hyperintensities in subcortical regions, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV ({1:Pitceathly et al., 2013}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see {220110}." +619071,"Hypomyelinating leukodystrophy-20 (HLD20) is an autosomal recessive neurodegenerative disorder characterized by the loss of developmental milestones at about 12 to 16 months of age after normal early development. Patients lose motor, language, and cognitive skills and show poor overall growth with microcephaly. The disorder is progressive, resulting in feeding difficulties and spastic quadriplegia. Some patients may have seizures. Brain imaging shows subcortical white matter abnormalities and a thin corpus callosum, suggesting a myelination defect. Death usually occurs in childhood ({1:Al-Abdi et al., 2020}).\n\nFor a discussion of genetic heterogeneity of HLD, see {312080}." +619072,"Neurodevelopmental disorder with seizures and brain atrophy (NEDSEBA) is an autosomal recessive disorder with highly variable manifestations and severity of these core features. The most severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion or planned termination. Those that survive may present with severe seizures at birth, have poor overall growth with small head circumference, achieve no developmental progress, and show significant brain atrophy and other brain abnormalities. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy (summary by {1:Coulter et al., 2020})." +619073,"Vitamin D-dependent rickets-3 (VDDR3) is characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to the parent molecule as well as activated forms of vitamin D ({1:Roizen et al., 2018}).\n\nFor discussion of genetic heterogeneity of vitamin D-dependent rickets, see {264700}." +619074,"Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) is characterized by motor and speech delay, with intellectual disability ranging from mild to severe. Brain imaging shows ventriculomegaly as well as other malformations ({1:Harel et al., 2019})." +619075,"Bachmann-Bupp syndrome (BABS) is a neurometabolic disorder associated with global developmental delay, ectodermal abnormalities including alopecia, absolute or relative macrocephaly, dysmorphic features, and characteristic neuroimaging features (summary by {2:Rodan et al., 2018})." +619076,"Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB) is an autosomal recessive disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life; eventually they are unable to sit, feed, or communicate, and may be unresponsive to stimuli. Other features include muscle weakness, spasticity with hyperreflexia, irritability, and contractures ({1:Coulter et al., 2020})." +619079,"Inflammatory bowel disease-30 (IBD30) is characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease ({1:Mao et al., 2018}).\n\nFor a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 ({266600})." +619080,"Kilquist syndrome (KILQS) is an autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis (CF; {219700}) (summary by {5:Stodberg et al., 2020})." +619081,"Autosomal dominant deafness-78 (DFNA78) is characterized by profound congenital bilateral sensorineural hearing loss affecting all frequencies. Some patients may have mild motor delay early in life due to vestibular dysfunction, although the motor skills catch up with age. Affected individuals do not have systemic or other neurologic manifestations (summary by {3:Mutai et al., 2020})." +619082,"Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1) is characterized by poor visual acuity in early childhood. Congenital cataract and microcornea are followed by rod-cone dystrophy, with later development of posterior staphyloma ({1:Cai et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma\n\nMRCS2 (see {193220}) is caused by mutation in the BEST1 gene ({607854}) on chromosome 11q12; 1 such family has been reported." +619083,"Delpire-McNeill syndrome (DELMNES) is a neurodevelopmental disorder with highly variable manifestations. Patients present in infancy with global developmental delay, including motor, speech, and impaired intellectual development. The most severely affected patients have hypotonia, inability to hold their head or walk, bilateral sensorineural deafness, and absent language, whereas others have delayed walking and mild to moderate intellectual disability, often with speech delay and autistic features. More variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect (summary by {1:McNeill et al., 2020})." +619086,"Autosomal dominant deafness-79 (DFNA79) is a nonsyndromic form of progressive sensorineural hearing loss with age of onset ranging from 20 years to 65 years. Affected females appear to have milder hearing loss than males ({1:Lu et al., 2020})." +619087,"Noonan syndrome-13 (NS13) is a neurodevelopmental disorder characterized by developmental delay and impaired intellectual development of variable severity, associated with behavioral problems. Affected individuals also exhibit reduced postnatal growth and craniofacial anomalies, including ptosis, hypertelorism, low-set posteriorly rotated ears, and short webbed neck. Other features include congenital heart defects and mild skeletal defects ({1:Motta et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950})." +619090,"Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) is a complex neurologic disorder characterized by impaired motor and intellectual development, hypotonia, poor overall growth, usually with short stature and microcephaly, and subtly dysmorphic facial features. Affected individuals have distal muscle weakness and muscle atrophy resulting in delayed acquisition of motor skills and persistent gait abnormalities. Although many patients have clinical and/or electrophysiologic features consistent with an axonal sensorimotor peripheral neuropathy, such as hyporeflexia, impaired sensation, foot drop, and pes cavus, the signs and severity are highly variable. Additional features may include hearing loss, pigmentary retinopathy, and abnormalities on brain imaging, including cerebral or cerebellar atrophy, hypomyelination, and lesions in the basal ganglia or brainstem. In some instances, the same mutation may result in different phenotypic manifestations (CMT2Z or DIGFAN syndrome), which highlights the expanding clinical spectrum associated with MORC2 mutations and may render classification of patients into one or the other disorder challenging (summary by {2:Guillen Sacoto et al., 2020})." +619091,"Neurodevelopmental disorder with microcephaly, language delay, and gait abnormalities (NEDMILG) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems ({1:Manole et al., 2020})." +619092,"Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG) is characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems ({1:Manole et al., 2020})." +619093,"Autosomal recessive deafness-116 (DFNB116) is characterized by slowly progressive moderate to profound sensorineural hearing loss (SNHL), with a steeply sloping audiogram in the high frequencies in younger patients ({1:Sineni et al., 2019})." +619094,"Spermatogenic failure-45 (SPGF45) is characterized by male infertility due to severe teratozoospermia. Sperm in affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are short, absent, coiled, angulated, and/or of irregular caliber; some sperm also show abnormalities of the head. Ultrastructural analysis shows severe disruption of the axonemal complex and mitochondrial sheath ({1:Li et al., 2019}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619095,"Spermatogenic failure-46 (SPGF46) is characterized by male infertility due to asthenoteratozoospermia. Sperm of affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are absent, short, coiled, angulated, and/or of irregular caliber. Ultrastructural analysis shows disorganization of axonemal and periaxonemal structures ({1:Liu et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619096,"Mismatch repair cancer syndrome-2 (MMRCS2) is an autosomal recessive childhood cancer predisposition syndrome characterized by hematologic malignancy, brain tumors, and gastrointestinal tumors. Multiple cafe-au-lait spots reminiscent of neurofibromatosis type I (NF1; {162200}) may be present. Microsatellite instability may be detected in tumor samples ({2:Muller et al., 2006}).\n\nFor a discussion of genetic heterogeneity of mismatch repair cancer syndrome (MMRCS), see MMRCS1 ({276300})." +619097,"Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; {162200}) may be present ({2:Hegde et al., 2005}, {4:Ostergaard et al., 2005}). Microsatellite instability may be detected in tumor samples ({2:Hegde et al., 2005}).\n\nFor a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 ({276300})." +619099,"Intellectual developmental disorder with speech delay and axonal peripheral neuropathy (IDDSAPN) is an autosomal recessive neurologic disorder characterized by mild global developmental delay with motor impairment and severe speech delay apparent in the first years of life. Affected individuals begin to walk independently between 3 and 4 years of age, but often have an unsteady or ataxic gait. Most patients have progressive distal muscle weakness and atrophy of the lower limbs, foot or hand deformities, and dysarthria, consistent with a peripheral neuropathy. There is mildly impaired intellectual development. Some patients may have behavioral anomalies, such as autistic features or attention deficit-hyperactivity disorder (ADHD), and some can attend special schools. The overall clinical features indicate involvement of both the central and peripheral nervous systems (summary by {3:Martin et al., 2020} and {1:Ahmed et al., 2021})" +619101,"Mismatch repair cancer syndrome-4 (MMRCS4) is an autosomal recessive childhood cancer predisposition syndrome characterized by early-onset leukemia/lymphoma, brain tumors, colorectal/gastrointestinal cancers, and other rare malignancies, including rhabdomyosarcoma (summary by {11:Li et al., 2015}). Cafe-au-lait spots are usually present ({4:De Vos et al., 2006}).\n\nFor a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 ({276300})." +619102,"Spermatogenic failure-47 (SPGF47) is characterized by male infertility due to asthenoteratospermia. Affected individuals have reduced sperm concentrations and spermatozoa are immotile, with short or absent flagella as well as centriolar abnormalities ({1:Lv et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see {258150}." +619103,"Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB) is a syndromic disorder with multisystemic involvement. Affected individuals have severe global developmental delay with severely impaired intellectual development, poor or absent language, behavioral abnormalities, seizures, and sleep disturbances. Craniofacial dysmorphisms, while variable, include round face, prognathism, depressed nasal bridge, and cleft or high-arched palate. Brain imaging shows dysgenesis of the corpus callosum and progressive cerebellar atrophy. Additional features may include genitourinary tract anomalies, hearing loss, and mild distal skeletal defects (summary by {1:Humbert et al., 2020})." +619108,"Spermatogenic failure-48 (SPGF48) is characterized by male infertility due to a variable spectrum of severely impaired spermatogenesis, primarily at meiosis and resulting in azoospermia. However, sparse postmeiotic germ cell development and retrieval of sperm in some cases has been reported ({2:Wyrwoll et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see {258150}." +619110,"Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. Contractures involving the proximal joints appear to be more common in MYLPF-associated DA than in other forms of DA, and segmental amyoplasia has been observed ({1:Chong et al., 2020})." +619111,"COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis ({3:Verloes and Lambotte, 1989}). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by {1:Doherty et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see {216360}." +619112,"Distal hereditary motor neuronopathy type VC (dHMN5C or HMN5C) is an autosomal dominant neurologic disorder characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills. Some patients show spasticity and hyperreflexia, mainly of the lower limbs: these features overlap with those observed in Silver syndrome, an allelic disorder. In addition, some patients with BSCL2 mutations show features of Charcot-Marie-Tooth type 2 (CMT2) with distal sensory impairment. HMN5C, Silver syndrome (SPG17), and features of axonal sensorimotor peripheral neuropathy (CMT2) thus represent a phenotypic spectrum associated with heterozygous mutations in the BSCL2 gene. Individuals with the same mutation may manifest features consistent with any of those disorders; variability is even observed within the same family (summary by {8:Van de Warrenburg et al., 2006}; {7:Luigetti et al., 2010}; {4:Choi et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; {182960})." +619113,"COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis ({2:Verloes and Lambotte, 1989}). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by {1:Doherty et al., 2010}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see {216360}." +619115,"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-1 (OIEDS1) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by {2:Cabral et al., 2007}; {4:Malfait et al., 2013}).\n\n<Subhead> Genetic Heterogeneity of Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome\n\nAlso see OIEDS2 ({619120}), caused by mutation in the COL1A2 gene ({120160}) on chromosome 7q21." +619120,"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-2 (OIEDS2) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by {4:Raff et al., 2000} and {1:Malfait et al., 2013}).\n\nFor a discussion of genetic heterogeneity of combined osteogenesis imperfecta and Ehlers-Danlos syndrome, see {619115}." +619121,"Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) is an autosomal recessive multisystemic disorder characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, and spasticity of the lower limbs resulting in gait difficulties. Most affected individuals also develop progressive hypertrophic cardiomyopathy in childhood or have cardiac developmental anomalies. Additional more variable features include dysmorphic facies and axonal sensory peripheral neuropathy. Brain imaging tends to show thin corpus callosum and polymicrogyria (summary by {1:Garcia-Cazorla et al., 2020})." +619122,"Vertebral hypersegmentation and orofacial anomalies (VHO) is characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs. Most patients also exhibit orofacial clefting and ear anomalies ({1:Cox et al., 2019})." +619123,"Cardiofacioneurodevelopmental syndrome (CFNDS) is characterized by microcephaly, midline facial defects, developmental delay, and cerebellar hypoplasia. Variable cardiac defects may be present, including atrioventricular canal and ventricular septal defects. Heterotaxy has also been reported ({2:Harel et al., 2020})." +619124,"Developmental and epileptic encephalopathy-89 (DEE89) is a severe autosomal recessive disorder characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. EEG shows suppression-burst pattern or hypsarrhythmia, consistent with DEE or a clinical diagnosis of West syndrome. More variable features include joint contractures with foot deformities, dysmorphic facial features with cleft palate, and omphalocele. Affected individuals have poor motor skills, poor eye contact, and lack of language development; some die in infancy or early childhood. Brain imaging may be normal or show nonspecific abnormalities (summary by {2:Chatron et al., 2020})." +619125,"Kaya-Barakat-Masson syndrome (KABAMAS) is a severe autosomal recessive neurodevelopmental disorder characterized by profoundly impaired global development with variable motor abnormalities, such as axial hypotonia, peripheral spasticity, dystonia, and poor coordination, resulting in the inability to sit or walk. Affected individuals have impaired intellectual development with absent speech, poor eye contact, and feeding difficulties, resulting in poor overall growth, sometimes with microcephaly. Dysmorphic features are generally not present. Additional more variable features include early-onset seizures, ocular anomalies, foot deformities, and nonspecific brain imaging findings, such as thin corpus callosum and cerebral, cerebellar, or pontine atrophy. Some patients may die in infancy or early childhood (summary by {1:AlMuhaizea et al., 2020} and {2:Diaz et al., 2020})." +619126,"Immunodeficiency-75 (IMD75) is an autosomal recessive immunologic disorder characterized by immunodeficiency, immune dysregulation, and the development of lymphoproliferative disorders, including lymphoma. Affected individuals usually present in infancy with severe and recurrent infections, mainly viral and affecting the respiratory tract. Some patients may have autoimmune cytopenias, anemia, or thrombocytopenia. Patients also develop hepatosplenomegaly, lymphadenopathy, lymphoproliferative disorders, and various types of T- or B-cell lymphomas. Immunologic work-up shows decreased class-switched B cells, impaired B-cell terminal differentiation, and hypo- or hypergammaglobulinemia. There is skewed differentiation and dysregulation of T cells, as well as possibly disrupted hematopoiesis. Additional features include failure to thrive and global developmental delay. The phenotype may be reminiscent of ALPS ({601859}), including laboratory evidence of impaired Fas-dependent T-cell apoptosis. Although hematopoietic stem cell transplantation may be effective treatment, many patients die in childhood (summary by {2:Stremenova Spegarova et al., 2020})." +619127,"Mandibuloacral dysplasia progeroid syndrome (MDPS) is an autosomal recessive severe laminopathy-like disorder characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis, and hypertension ({1:Elouej et al., 2020})." +619130,"Thrombocytopenia-7 (THC7) is an autosomal dominant disorder characterized by reduced peripheral platelet count. The expression and severity of the disorder is highly variable: some patients have no bleeding symptoms, whereas other have recurrent petechiae, epistaxis, or more severe bleeding episodes. A common finding is decreased alpha-granules in the platelets. There are variable findings on light and electron microscopic analysis: some patients have normal platelet morphology, whereas others show abnormal platelet morphology with cytoskeletal defects. Flow cytometric studies may show reduced expression of platelet membrane glycoproteins and activation markers (summary by {2:Lentaigne et al., 2019} and {1:Leinoe et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}." +619131,"Osteogenesis imperfecta type XXI (OI21) is a progressively deforming disorder, characterized by multiple fractures that often occur after minor trauma. Fractures may be present at birth in some affected individuals. Patients exhibit disproportionate short stature and scoliosis, and are often wheelchair-bound by adulthood ({2:van Dijk et al., 2020})." +619132,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-8 (FTDALS8) is an autosomal dominant neurodegenerative disorder characterized by adult-onset dementia manifest as memory impairment, executive dysfunction, and behavioral or personality changes. Some patients may develop ALS or parkinsonism. Neuropathologic studies show frontotemporal lobar degeneration (FTLD) with tau (MAPT; {157140})- and TDP43 ({605078})-immunoreactive inclusions (summary by {1:Dobson-Stone et al., 2020}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550})." +619133,"Amyotrophic lateral sclerosis-26 with or without frontotemporal dementia (ALS26) is an autosomal dominant neurodegenerative disorder characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness (ALS). Patients may also develop frontotemporal dementia (FTD) manifest as primary progressive aphasia, memory impairment, executive dysfunction, and behavioral or personality changes. Although patients may present with 1 or the other diseases, all eventually develop ALS. Neuropathologic studies of the brain and spinal cord show TDP43 ({605078})-immunoreactive cytoplasmic inclusions that correlate with clinical features and Lewy body-like cytoplasmic inclusions in lower motor neurons (summary by {2:Mackenzie et al., 2017}).\n\nFor a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 ({105400})." +619135,"Ritscher-Schinzel syndrome-3 (RTSC3) is characterized by craniocerebellocardiac anomalies and severe postnatal growth restriction, as well as complicated skeletal malformations, including vertebral body hypoossification, sternal aplasia, and chondrodysplasia punctata. Other features include developmental delay, ocular anomalies, periventricular nodular heterotopia, and proteinuria ({1:Kato et al., 2020}).\n\nFor a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 ({220210})." +619141,"Frontotemporal dementia and/or amyotrophic lateral sclerosis-5 (FTDALS5) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD symptoms in adulthood. The disease is progressive, and some patients may develop both diseases, although ALS seems to be more prevalent than FTD. The disorder usually results in premature death (summary by {1:Williams et al., 2016}).\n\nFor a discussion of genetic heterogeneity of FTDALS, see FTDALS1 ({105550})." +619142,"Cardioacrofacial dysplasia-1 (CAFD1) is characterized by congenital cardiac defects, primarily common atrium or atrioventricular septal defect; limb anomalies, including short limbs, brachydactyly, and postaxial polydactyly; and dysmorphic facial features ({1:Palencia-Campos et al., 2020}).\n\n<Subhead> Genetic Heterogeneity of Cardioacrofacial Dysplasia\n\nCAFD2 ({619143}) is caused by mutation in the PRKACB gene ({176892}) on chromosome 1p31." +619143,"Cardioacrofacial dysplasia-2 (CAFD2) is characterized by congenital cardiac defects, primarily common atrium or atrioventricular septal defect; limb anomalies, including short limbs, brachydactyly, and postaxial polydactyly; and dysmorphic facial features. Developmental delay of variable severity has also been observed ({1:Palencia-Campos et al., 2020}).\n\nFor a discussion of genetic heterogeneity of CAFD, see CAFD1 ({619142})." +619144,"Spermatogenic failure-49 (SPGF49) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), primarily coiled and short flagella, with markedly reduced or no progressive motility ({1:He et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see {258150}." +619145,"Spermatogenic failure-50 (SPGF50) is characterized by male infertility due to azoospermia resulting from meiotic arrest at prophase I ({1:Yang et al., 2018}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619146,"Premature ovarian failure-17 (POF17) is characterized by early cessation of menses after initial menarche, with small ovaries and uterus ({1:Zhang et al., 2019}).\n\nFor a discussion of genetic heterogeneity of premature ovarian failure, see POF1 ({311360})." +619147,"Infantile-onset progressive leukoencephalopathy with or without deafness (LEPID) is an autosomal recessive complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Most patients present with sensorineural deafness or hypoacousia and global developmental delay. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Additional more variable features may include poor overall growth with microcephaly, seizures, visual loss, microcytic anemia, and hepatic enlargement or abnormal liver enzymes. Brain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy. The brain and spinal cord are usually both involved; calcifications of these regions are often observed. Laboratory studies show increased serum lactate and deficiencies of mitochondrial respiratory chain complexes, consistent with global mitochondrial dysfunction. Early death often occurs (summary by {2:Itoh et al., 2019})." +619148,"Chromosome 13q33-q34 deletion syndrome is associated with developmental delay and/or impaired intellectual development, facial dysmorphism, and an increased risk for epilepsy, cardiac defects and additional anatomic anomalies (summary by {4:Sagi-Dain et al., 2019})." +619149,"Lessel-Kreienkamp syndrome (LESKRES) is a neurodevelopmental disorder characterized by global developmental delay with intellectual disability and speech and language delay apparent from infancy or early childhood. The severity of the disorder is highly variable: some patients have mildly delayed walking and mild cognitive deficits, whereas others are nonambulatory and nonverbal. Most have behavioral disorders. Additional features, including seizures, hypotonia, gait abnormalities, visual defects, cardiac defects, and nonspecific dysmorphic facial features may also be present (summary by {1:Lessel et al., 2020})." +619150,"Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS) is an autosomal recessive complex neurologic disorder characterized by global developmental delay with impaired intellectual development and language delay. In addition, most patients develop a paroxysmal hyperkinetic movement disorder in the first months or years of life manifest as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. The episodes are pharmacoresistant to anticonvulsant medication. EEG may show interictal abnormalities, but are usually not consistent with epilepsy. However, some patients may also develop epileptic seizures or only have seizures without a movement disorder (summary by {1:Doummar et al., 2020})." +619151,"AMED syndrome (AMEDS) is an autosomal recessive digenic multisystem disorder characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome (MDS) in childhood, and poor overall growth with short stature (summary by {1:Oka et al., 2020}).\n\nFor a discussion of genetic heterogeneity of bone marrow failure syndrome (BMFS), see BMFS1 ({614675})." +619155,"Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant ({1:Majmundar et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300})." +619157,"Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) is characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. About half of patients develop early-onset generalized epilepsy with different seizure types; myoclonic seizures and myoclonic-atonic epilepsy are commonly observed. The seizures may remit with age or remain refractory to treatment. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities (summary by {3:Mulhern et al., 2018})." +619161,"Carpal tunnel syndrome-2 (CTS2) is characterized by the relatively early onset of symptoms of median nerve compression in the wrist. Patients experience pain and numbness in the thumb, index, and middle fingers, correlating with the median nerve distribution in the hand. In addition to thickening of the tendons and ligaments of the wrist, thickening of other tendons has been observed ({1:Li et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of carpal tunnel syndrome, see CTS1 ({115430})." +619164,"Immunodeficiency-76 (IMD76) is an autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood (summary by {2:Lyszkiewicz et al., 2020})." +619165,"Oculocutaneous albinism type VIII (OCA8) is characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, iris transillumination, and hypopigmentation of the retina ({1:Pennamen et al., 2021})." +619166,"Mitochondrial complex II deficiency nuclear type 2 (MC2DN2) is an autosomal recessive multisystemic metabolic disorder with variable severity and features. Most patients present with neurologic deterioration in infancy or early childhood after normal early development. Features include loss of motor skills, spastic paresis, dystonia, and loss of speech associated with increased serum and CSF lactate. Some patients may have mental decline or visual loss. Skeletal muscle samples show isolated complex II deficiency, and proton MRS shows increased succinate levels in the CSF and brain white matter. Brain imaging usually shows progressive leukoencephalopathy. Although the pattern of brain involvement may not be characteristic of Leigh syndrome (see {256000}), postmortem examination in 1 patient showed multifocal spongiform encephalomyelopathy consistent with a diagnosis of Leigh syndrome. The most severely affected patients die of multiorgan failure and lactic acidosis, whereas others who survive may stabilize and regain some skills. Treatment with riboflavin may offer clinical improvement (summary by {1:Brockmann et al., 2002} and {2:Bugiani et al., 2006}).\n\nFor a discussion of genetic heterogeneity of MC2DN, see MC2DN1 ({252011})." +619167,"Mitochondrial complex II deficiency nuclear type 3 (MC2DN3) is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients may have an encephalomyopathic picture with episodic developmental regression, loss of motor skills, hypotonia, ataxia, dystonia, and seizures or myoclonus. Other patients present in infancy with hypertrophic cardiomyopathy, which may be fatal. Laboratory studies show increased serum lactate and mitochondrial complex II deficiency in muscle and fibroblasts (summary by {2:Jackson et al., 2014} and {1:Alston et al., 2015}).\n\nFor a discussion of genetic heterogeneity of MC2DN, see MC2DN1 ({252011})." +619170,"Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome (see {256000}). Patient tissue showed isolated mitochondrial complex I deficiency. Death may occur in childhood ({1:Alahmad et al., 2020}).\n\nFor a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see {252010}." +619172,"Hermansky-Pudlak syndrome-11 (HPS11) is characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis. Patients lack detectable platelet dense granules, and show mildly impaired activation-induced ATP release and platelet aggregation in vitro ({1:Pennamen et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 ({203300})." +619173,"Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities (CONRIBA) is characterized by severe global developmental delay apparent in infancy or early childhood. Affected individuals have hypotonia with impaired motor development, respiratory insufficiency, and feeding difficulties requiring intervention. Intellectual and speech development is also delayed, and most have visual defects, including cortical visual blindness, nystagmus, and esotropia. The disorder is progressive, as manifest by developmental regression consistent with neurodegeneration. Although overt seizures are not observed, some patients may have episodic hypertonia or apnea, and EEG may show nonspecific abnormalities. Brain imaging shows unique diffusion restriction signal abnormalities affecting the brainstem, cerebellum, and corticospinal tracts. Early death may occur (summary by {1:Polovitskaya et al., 2020})." +619174,"Autosomal recessive deafness-117 (DFNB117) is characterized by nonsyndromic bilateral moderate-to-profound sensorineural deafness, with onset in early childhood ({1:Vona et al., 2021})." +619176,"Oocyte maturation defect-10 (OOMD10) is characterized by high rates of abnormal fertilization of mature oocytes, with development of multiple pronuclei or absent pronucleus. Morphologically normal zygotes often undergo early embryonic arrest, and surviving embryos fail to establish a successful pregnancy after implantation ({1:Wang et al., 2020}).\n\nFor a discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774})." +619177,"Spermatogenic failure-51 (SPGF51) is characterized by male infertility due to severe asthenoteratozoospermia. Patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Abnormalities of the sperm head, base, and acrosome have also been observed ({1:Martinez et al., 2020}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619178,"Myofibrillar myopathy-11 (MFM11) is an autosomal recessive skeletal muscle disorder characterized by onset of slowly progressive proximal muscle weakness in the first decade of life. Some patients may present at birth with hypotonia and feeding difficulties, whereas others present later in mid-childhood. Although most patients show delayed walking at 2 to 3 years, all remain ambulatory into adulthood. More variable features may include decreased respiratory forced vital capacity, variable cardiac features, and calf hypertrophy. Skeletal muscle biopsy shows myopathic changes with variation in fiber size, type 1 fiber predominance, centralized nuclei, eccentrically placed core-like lesions, and distortion of the myofibrillary pattern with Z-line streaming and abnormal myofibrillar aggregates or inclusions (summary by {2:Donkervoort et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 ({601419})." +619179,"Autosomal dominant primary microcephaly-26 (MCPH26) is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development. Some patients may have only mild learning difficulties or speech delay, whereas other are more severely affected with the inability to walk or speak. Additional features may include short stature, spasticity, feeding difficulties requiring tube feeding, and nonspecific dysmorphic facial features. Brain imaging in some patients shows a simplified gyral pattern or dysgenesis of the corpus callosum, suggesting abnormal neuronal migration (summary by {1:Cristofoli et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200})." +619180,"Autosomal dominant primary microcephaly-27 (MCPH27) is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Most patients have variable and nonspecific additional features, including facial dysmorphism, hypotonia, limb hypertonia, poor feeding, and distal skeletal anomalies. Brain imaging may show enlarged ventricles or gyral abnormalities, but most have normal imaging ({1:Parry et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200})." +619182,"Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is characterized by autosomal dominant transmission of fundic gland polyposis (FGP) with occasional hyperplastic and adenomatous polyps, sparing of the gastric antrum, and the development of intestinal-type gastric adenocarcinoma. Colorectal polyposis is not observed, and family history does not include colorectal cancer ({12:Worthley et al., 2012})." +619183,"Proteasome-associated autoinflammatory syndrome-4 (PRAAS4) is an autosomal recessive immunologic disorder characterized by onset of panniculitis and erythematous skin lesions in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, fever, generalized lipodystrophy, myositis, and joint contractures, as well as delayed motor and speech development. Autoimmune features, such as hemolytic anemia, may also occur. Laboratory studies show elevation of acute phase reactants and abnormal activation of the type I interferon response. Treatment with the JAK (see {147795}) inhibitor ruxolitinib may result in clinical improvement (summary by {1:de Jesus et al., 2019}).\n\nFor a discussion of genetic heterogeneity of PRAAS, see PRAAS1 ({256040})." +619184,"Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies-2 (SSFSC2) is characterized by thin and short long bones, distinctive facial dysmorphism, and dental and skeletal abnormalities, in the absence of developmental delay or intellectual disability. Cardiac anomalies have been reported in some patients ({1:Lin et al., 2021}).\n\nFor a discussion of genetic heterogeneity of SSFSC, see SSFSC1 ({617877})." +619185,"Joubert syndrome-37 (JBTS37) is an autosomal recessive neurodevelopmental ciliopathy characterized classically by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging. Affected individuals have hypotonia, ataxia, and variably impaired intellectual development. Additional variable features, such as postaxial polydactyly, liver or kidney anomalies, retinal dystrophy, and coloboma, may also occur. In severe cases, affected fetuses with these malformations may be terminated (summary by {2:Latour et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300})." +619188,"Autosomal dominant intellectual developmental disorder-64 (MRD64) is characterized by mildly to severely impaired intellectual development (ID) with speech delays. Most patients also have autism spectrum disorder (ASD). Additional features are highly variable but may include motor delay, attention deficit-hyperactivity disorder (ADHD), and nonspecific dysmorphic features (summary by {1:Mirzaa et al., 2020})." +619189,"Li-Campeau syndrome (LICAS) is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, hypothyroidism, and variable abnormalities of the cardiac and genital systems. Additional features may include seizures, short stature, hypotonia, and brain imaging anomalies, such as cortical atrophy (summary by {1:Li et al., 2021})." +619191,"Progressive myoclonic epilepsy-12 (EPM12) is an autosomal recessive neurologic disorder characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Affected individuals develop cerebellar ataxia associated with progressive cerebral and cerebellar atrophy on brain imaging. Most patients lose ambulation and become wheelchair-bound. Additional more variable features include mild cognitive dysfunction or psychiatric manifestations, such as depression or anxiety (summary by {1:Mazzola et al., 2021}).\n\nFor a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A ({254800})." +619194,"Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) is characterized by developmental delay and/or intellectual disability; corpus callosum hypoplasia or agenesis; facial dysmorphism, including upslanting palpebral fissures, broad nasal tip, and wide mouth; and skeletal abnormalities, including short stature, scoliosis, and flexion contractures, with broad fingertips and/or toes. Renal agenesis, unilateral or bilateral, has also been observed in some patients ({1:Schneeberger et al., 2020})." +619196,"Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE) is an autosomal recessive complex neurodegenerative disorder characterized by congenital neurosensory deafness followed by onset of neurodegenerative symptoms, including pyramidal signs and cognitive decline, in young adulthood. Some patients may have mild developmental delay or learning difficulties in childhood, but most can function independently. The onset of motor and cognitive decline in adulthood can be rapid and may result in early death. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy. More variable additional features may include visual impairment and axonal peripheral neuropathy (summary by {1:Scheidecker et al., 2019})." +619201,"Nephrotic syndrome type 23 (NPHS23) is an autosomal recessive renal disorder characterized by the onset of proteinuria in the first or second decade of life. The outcome is variable: some patients have normal renal function after many years, whereas others may progress to chronic kidney disease. Renal biopsy shows mesangial hypercellularity, consistent with minimal change disease, focal segmental glomerulosclerosis, and effacement of podocyte foot processes (summary by {2:Solanki et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ({256300})." +619202,"Spermatogenic failure-52 (SPGF52) is characterized by azoospermic infertility resulting from meiotic arrest at the spermatocyte stage ({1:Fan et al., 2021}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619203,"Premature ovarian failure-18 (POF18) is characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life. The uterus is small; ovaries may be small or rudimentary, and do not show follicular activity ({1:Fan et al., 2021}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 ({311360})." +619208,"Olmsted syndrome-2 (OLMS2) is characterized by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair ({2:Duchatelet et al., 2019}). Some patients may experience flexion contractures of the digits due to the severity of the keratoderma, and intractable pruritus as well as alopecia universalis have been observed ({1:Dai et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Olmsted disease, see OLMS1 ({614594})." +619209,"Erythrokeratodermia variabilis et progressiva-7 (EKVP7) is characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present ({1:Duchatelet et al., 2019}; {2:Patel et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 ({133200})." +619215,"Oculomotor-abducens synkinesis (OCABSN) is an autosomal recessive disorder characterized by a specific anomaly of extraocular muscle movements involving the oculomotor nerve (cranial nerve III) and the abducens nerve (cranial nerve VI). The superior branch of CN3 innervates the levator palpebrae superioris muscle, which raises the eyelid, and CN6 innervates the lateral rectus muscle, which controls lateral eye movement. Affected individuals show ptosis as well as elevation of the eyelid on ipsilateral abduction. The features indicate abnormal innervation of these muscles and suggest synkinesis of the oculomotor and abducens nerves. The disorder can be classified as a congenital cranial dysinnervation disorder (CCDD), and also shows features of congenital fibrosis of the extraocular muscles (CFEOM; see {135700}) (summary by {1:Khan et al., 2004} and {3:Whitman et al., 2019}).\n\nSee also oculomotor-levator synkinesis (OCLEVS; {151610}), a similar disorder." +619216,"Hereditary motor neuropathy with myopathic features (HMNMYO) is an autosomal recessive disorder with both myopathic and neurogenic features. Affected individuals usually present in the first decade with lower leg weakness resulting in difficulty climbing stairs and problems standing on the heels. Some patients have later onset well into the adult years. Most patients have foot deformities, and some may have leg muscle atrophy. The disorder is slowly progressive and often involves the upper limbs. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. Sensory abnormalities are not typically present, and patients remain ambulatory. The phenotype shows some phenotypic overlap with distal hereditary motor neuropathy (see, e.g., {182960}), but is distinguished by the presence of myopathic features (summary by {1:Deschauer et al., 2021} and {2:Pagnamenta et al., 2021})." +619217,"Limb-only ENDOVE syndrome (ENDOVESL) is characterized by marked mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. Patients also exhibit abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies have been observed ({1:Allou et al., 2021})." +619218,"Limb-brain ENDOVE syndrome (ENDOVESLB) is characterized by marked mesomelic shortening of the lower limbs due to severe hypoplasia of the tibia and fibula. The talus is absent and foot bones are rudimentary. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. In addition, there is cerebellar aplasia with hypoplasia of the brainstem ({1:Allou et al., 2021})." +619220,"Immunodeficiency-78 with autoimmunity and developmental delay (IMD78) is an autosomal recessive systemic disorder characterized by onset of symptoms in early childhood. Affected individuals present with features of immune deficiency, such as recurrent sinopulmonary or skin infections, as well as autoimmunity, including autoimmune cytopenias, hemolytic anemia, and thrombocytopenia. Autoimmune hepatitis or thyroid disease and central nervous system vasculitis with stroke may also occur. There is increased susceptibility to bacterial, viral, and fungal infections. Laboratory studies show lymphopenia with advanced differentiation and premature senescence of CD8+ T cells and B cells; some patients may have hypergammaglobulinemia. The findings indicate immune dysregulation. Patients also have global developmental delay with speech delay and variable intellectual disability. Many patients die prematurely, but successful hematopoietic bone marrow transplant may be curative (summary by {3:Lu et al., 2014} and {1:Atallah et al., 2021})." +619221,"Sulfide:quinone oxidoreductase-deficiency (SQORD) is characterized by a variable phenotype ranging from no clinical symptoms to episodes of encephalopathy and Leigh syndrome-like (see {256000}) brain lesions, with acute symptoms triggered by infections and fasting. Other features may include lactic acidosis and decreased mitochondrial respiratory chain complex IV activity in tissues. Most affected individuals are asymptomatic. Patients with encephalopathy may recover or die in childhood ({1:Friederich et al., 2020})." +619223,"Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus. Treatment with gamma-IFN (IFNG; {147570}) may be a therapeutic option (summary by {1:McCormack et al., 2017} and {2:Merselis et al., 2020})." +619224,Mitochondrial complex II deficiency nuclear type 4 (MC2DN4) is a severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Acute episodes of neurodegeneration are often triggered by catabolic stress such as infection or fasting. +619226,"ABOLM is characterized by suprabasal acantholytic blisters limited to the oral and laryngeal mucosa ({1:Kim et al., 2019})." +619227,"VCTERL syndrome is characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs. Some patients also exhibit craniofacial abnormalities. Incomplete penetrance and markedly variable disease expression have been observed, including intrafamilial variability ({1:Martin et al., 2020})." +619228,"Developmental delay with dysmorphic facies and dental anomalies (DEFDA) is characterized by generally mild global developmental delay with variably impaired intellectual development, walking by 2 to 3 years, and slow language acquisition. The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, often with abnormal dentition and nonspecific visual defects, such as myopia, astigmatism, and strabismus. Although rare, involvement of other systems, such as skeletal, cardiac, and gastrointestinal, may be present (summary by {1:den Hoed et al., 2021})." +619229,"Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; {226750}). More variable features of KTZSL include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by {1:den Hoed et al., 2021})." +619232,"Bile acid conjugation defect-1 (BACD1) is an autosomal recessive metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy. The clinical features of the disorder result from impaired absorption of fat-soluble vitamins. Vitamin D deficiency causes rickets with variable growth deficiency, and vitamin K deficiency causes a coagulopathy with decreased production of vitamin K-dependent clotting factors. More variable features may include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids (summary by {2:Setchell et al., 2013}).\n\nSee also familial hypercholanemia (FHCA; {607748}), in which patients have increased serum bile levels of conjugated bile acids." +619234,"SOFM is characterized by marked short stature, oligodontia, mild facial dysmorphism, and motor delay. Endosteal hyperostosis has also been observed, and patients may exhibit some features of progeria ({2:Terhal et al., 2020}; {1:Beauregard-Lacroix et al., 2020})." +619238,"Immunodeficiency-79 (IMD79) is an autosomal recessive disorder characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus (HPV). Some patients may also have recurrent respiratory infections beginning in childhood, but the phenotype overall is mild compared to other primary immunodeficiencies. Patients may not come to attention until adulthood. Laboratory studies show absence of the CD4 antigen on T cells, monocytes, and dendritic cells, with variable secondary abnormalities in B cells and NK cells due to lack of CD4+ T cells (summary by {2:Lisco et al., 2021})." +619239,"Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures. Others have autistic features or behavioral abnormalities. Additional variable systemic features may also be present, such as cardiac defects, failure to thrive, or brain imaging anomalies (summary by {5:Nakashima et al., 2020})." +619243,"Global developmental delay with speech and behavioral abnormalities (GDSBA) is characterized by developmental delay apparent from infancy or early childhood. Affected individuals have mildly delayed fine and motor skills with walking by 3 years of age, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and ADHD. Some patients may have additional nonspecific features, such as facial dysmorphism, myopia or strabismus, and skeletal defects, including joint hypermobility, pes planus, or slender fingers (summary by {2:Granadillo et al., 2020})." +619244,"Neurodevelopmental disorder with cerebral atrophy and facial dysmorphism (NEDCAFD) is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Most patients have variable dysmorphic facial features including prominent eyes, protruding and low-set ears, and thin upper lip. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern (summary by {2:Rasheed et al., 2021})." +619245,"Premature ovarian failure-19 (POF19) is characterized by irregular menses that cease in the third decade of life, associated with infertility ({1:Felipe-Medina et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 ({311360})." +619255,"Baralle-Macken syndrome (BARMACS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy, difficulty walking or inability to walk, and impaired intellectual development with poor or absent speech. Affected individuals develop early-onset cataracts; some may have microcephaly. Additional more variable features may include dysmorphic facial features, metabolic abnormalities, spasticity, and lymphopenia (summary by {1:Macken et al., 2021})." +619256,"Familial hypercholanemia-2 (FHCA2) is an autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy. Most patients are asymptomatic and have no liver dysfunction, although some neonates may have transient jaundice or transiently elevated liver enzymes. These abnormalities improve with age. The bile acid defect can result in impaired absorption of fat-soluble vitamins, including D and K, causing decreased bone mineral density or prolonged prothrobin time (PT) (summary by {1:Deng et al., 2016} and {3:Liu et al., 2017}).\n\nFor a discussion of genetic heterogeneity of FHCA, see FHCA1 ({607748})." +619258,"Spermatogenic failure-53 (SPGF53) is characterized by oocyte fertilization failure due to lack of oocyte activation, associated with ultrastructural abnormalities of the sperm head ({1:Dai et al., 2021}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619259,"Neurodegeneration with ataxia and late-onset optic atrophy (NDAXOA) is an autosomal dominant disorder with somewhat variable manifestations. Most affected individuals present in mid-adulthood with slowly progressive cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia. Some patients may have a childhood history of neurologic features, including limited extraocular movements. Additional features can include cardiomyopathy, psychiatric disturbances, and peripheral sensory impairment (summary by {3:Taylor et al., 1996} and {2:Courage et al., 2017})." +619260,"SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI ({2:Bedoni et al., 2020})." +619263,"Nephrotic syndrome type 24 (NPHS24) is an autosomal recessive renal disorder characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. Additional features include edema and hyperlipidemia. The disorder is slowly progressive, and most patients eventually develop end-stage renal disease. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) (summary by {1:Schneider et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 ({256300})." +619264,"Neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS) is an autosomal recessive disorder characterized by global developmental delay apparent in early childhood. Patients have mildly impaired intellectual development, often with speech delay or behavioral abnormalities. Some may have seizures. Most have nonspecific dysmorphic facial features. Additional findings may include brain imaging abnormalities, mild skeletal defects, and renal abnormalities, although the renal anomalies may be unrelated (summary by {1:Shao et al., 2021})." +619267,"Glanzmann thrombasthenia-2 (GT2) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb ({607759})/IIIa platelet surface fibrinogen receptor complex resulting from mutations in the GPIIIa gene ({7:Rosenberg et al., 1997}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Glanzmann thrombasthenia, see {273800}." +619268,"Alzahrani-Kuwahara syndrome (ALKUS) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay with severely impaired intellectual function and poor or absent speech. Patients have poor overall growth and dysmorphic facial features. More variable findings include early-onset cataracts, hypotonia, congenital heart defects, lower limb spasticity, and hypospadias (summary by {1:Alzahrani et al., 2020})." +619269,"Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability ({1:Cauwels et al., 2005}; {2:Lekszas et al., 2020}).\n\nFor a discussion of genetic heterogeneity of ODCD, see ODCD1 ({184260})." +619271,"Platelet-type bleeding disorder-24 (BDPLT24) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by {5:Kunishima et al., 2011} and {6:Nurden et al., 2011}).\n\nFor a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see {187800}." +619273,"CIMDAG syndrome is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination. The associated hematologic abnormalities are variable, but are mostly consistent with congenital dyserythropoietic anemia (CDA) (summary by {2:Rodger et al., 2020} and {3:Seu et al., 2020})." +619274,"DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves ({1:Schrauwen et al., 2018}; {2:Schrauwen et al., 2020})." +619278,"MEDS2 is characterized by severe microcephaly and neonatal/early-onset epilepsy and diabetes ({1:De Franco et al., 2020}).\n\nFor a discussion of genetic heterogeneity of microcephaly, epilepsy, and diabetes syndrome, see MEDS1 ({614231})." +619279,"Parkinsonism with polyneuropathy (PKNPY) is an autosomal dominant disorder characterized by asymmetrical tremor-dependent parkinsonism. The age of onset ranges from the late forties to mid-sixties, and patients have a good response to levodopa (summary by {1:Lin et al., 2020})." +619281,"Autosomal recessive primary immunodeficiency-14B (IMD14B) is characterized by onset of recurrent infections in early childhood. Most patients have respiratory infections, but some may develop inflammatory bowel disease or osteomyelitis. Laboratory studies tend to show hypogammaglobulinemia and decreased levels of B cells. Although NK cell and T cell numbers are normal, there may be evidence of impaired immune-mediated cytotoxicity and defective T-cell function (summary by {2:Sogkas et al., 2018} and {1:Cohen et al., 2019})." +619286,"Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC) is an autosomal recessive disorder characterized by global developmental delay with variably impaired intellectual development. More severely affected individuals are nonverbal and do not achieve independent ambulation, whereas others develop some speech and can walk, or show regression later in childhood. Common features include axial hypotonia, peripheral spasticity, dystonia, cataracts, and seizures. Brain imaging usually shows cerebellar hypoplasia with variable additional abnormalities, such as thin corpus callosum, cerebral atrophy, and hypomyelination (summary by {1:Meng et al., 2021})." +619290,"Mahvash disease (MVAH) is an autosomal recessive disorder caused by inactivating mutations in the glucagon receptor, leading to alpha-cell hyperplasia of the pancreas, hyperglucagonemia without glucagonoma syndrome, and occasional hypoglycemia. The disease may lead to glucagonomas and/or primitive neuroectodermal tumors (PNETs)." +619291,"Dystonia-30 (DYT30) is an autosomal dominant neurologic disorder characterized by the onset of symptoms in the first decades of life. Patients present with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation. A subset of patients may also have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations (summary by {5:Steel et al., 2020}).\n\nIn a review of the pathogenesis of disorders with prominent dystonia, {3:Monfrini et al. (2021)} classified DYT30 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS16." +619293,"Blepharophimosis-impaired intellectual development syndrome (BIS) is a congenital disorder characterized by a distinct facial appearance with blepharophimosis and global development delay. Affected individuals have delayed motor skills, sometimes with inability to walk, and impaired intellectual development with poor or absent speech; some patients show behavioral abnormalities. There are recognizable facial features, including epicanthal folds, sparse eyebrows, broad nasal bridge, short nose with downturned tip, and open mouth with thin upper lip. Other more variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity (summary by {1:Cappuccio et al., 2020})." +619297,"KINSSHIP syndrome (KINS) is an autosomal dominant disorder characterized by a recognizable pattern of anomalies including developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive (summary by {5:Voisin et al., 2021})." +619301,"Pontocerebellar hypoplasia type 14 (PCH14) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include hypotonia, spastic quadriplegia, and early-onset seizures. Brain imaging shows pontocerebellar hypoplasia, agenesis or partial agenesis of the corpus callosum, and sometimes a simplified gyral pattern. Early death may occur (summary by {1:Chai et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596})." +619302,"Pontocerebellar hypoplasia type 15 (PCH15) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include spastic quadriplegia, early-onset seizures, and chronic anemia and thrombocytopenia. Brain imaging shows pontocerebellar hypoplasia and partial agenesis of the corpus callosum (summary by {1:Chai et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596})." +619303,"Pontocerebellar hypoplasia type 1E (PCH1E) is an autosomal recessive neurologic disorder characterized by severe hypotonia and respiratory insufficiency apparent soon after birth. Virtually all patients die in the first days or weeks of life. Postmortem examination and brain imaging show pontocerebellar atrophy and loss of anterior motor neurons in the spinal cord. Additional more variable features may include optic atrophy, peripheral neuropathy, dysmorphic features, congenital contracture or foot deformities, and seizures (summary by {3:Braunisch et al., 2018}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596})." +619304,"Pontocerebellar hypoplasia type 1F (PCH1F) is an autosomal recessive neurologic disorder characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features. Brain imaging shows pontocerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and delayed myelination (summary by {1:Somashekar et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596})." +619306,"Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. The phenotype is variable: more severely affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling. Brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia, although other features, such as thin corpus callosum and delayed myelination, may also be present. Dysmorphic facial features include sloping forehead, upslanting palpebral fissures, and hypertelorism. Additional more variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures (summary by {1:Van Bergen et al., 2020})." +619310,"Hypomyelinating leukodystrophy-21 (HLD21) is an autosomal recessive neurodegenerative disorder characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life. Affected individuals show cerebellar and pyramidal signs, including nystagmus, ataxia, dystonia, and spasticity, resulting in the loss of ambulation. Other more variable features include feeding difficulties, poor overall growth with microcephaly, optic atrophy, and seizures. Brain imaging shows diffuse hypomyelination of the white matter and atrophy of the cerebellum and corpus callosum. The disorder is progressive and may lead to premature death (summary by {1:Dorboz et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}." +619311,"Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) is characterized by global developmental delay with delayed walking or inability to walk and impaired intellectual development with poor or absent speech. Affected individuals have axial hypotonia and dysmorphic facies. Additional more variable features may include seizures, autistic or behavioral abnormalities, and brain abnormalities, such as dysplastic corpus callosum or polymicrogyria (summary by {1:Hiatt et al., 2018})." +619312,"Radio-Tartaglia syndrome (RATARS) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show hypotonia, mild motor difficulties, and craniofacial dysmorphism. Brain imaging may show nonspecific defects; rare patients have seizures or pyramidal signs. A subset of individuals may have congenital heart defects, precocious puberty, and obesity in females. Some of the features are similar to those observed in patients with chromosome 1p36 deletion syndrome ({607872}) (summary by {1:Radio et al., 2021})." +619313,"Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80) is an autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported (summary by {1:Baxley et al., 2021})." +619314,"Buratti-Harel syndrome (BURHAS) is a neurodevelopmental disorder characterized by infantile hypotonia, global developmental delay, mild motor and speech delay, and mild to moderately impaired intellectual development. Some patients are able to attend special schools and show learning difficulties, whereas others are more severely affected. Patients have prominent dysmorphic facial features, including hypertelorism, downslanting palpebral fissures, strabismus, and small low-set ears. Additional features may include laryngomalacia with feeding difficulties and distal skeletal anomalies (summary by {1:Buratti et al., 2021})." +619317,"Developmental and epileptic encephalopathy-6B (DEE6B) is a severe neurodevelopmental disorder characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder. Brain imaging usually shows progressive atrophy and other abnormalities (summary by {4:Sadleir et al., 2017})." +619318,"Oculogastrointestinal neurodevelopmental syndrome (OGIN) is characterized by microphthalmia and/or coloboma in association with other congenital anomalies, including imperforate anus, horseshoe kidney, and structural cardiac defects. Hearing loss and severe developmental delay are also observed in most patients ({2:Zha et al., 2020}; {1:Mor-Shaked et al., 2021})." +619319,"Lymphatic malformation-9 (LMPHM9) is an autosomal dominant disorder characterized by the onset of lower-extremity lymphedema in the first decades of life. Imaging may show lymph backflow and defects in lymph channel valves. There is variable expressivity and incomplete penetrance; female mutation carriers are more likely to show disease manifestations than male carriers (summary by {1:Erickson et al., 2019}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see {153100}." +619320,"Autosomal dominant intellectual developmental disorder-65 (MRD65) is characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities. Affected individuals also have dysmorphic facial features. Brain imaging may be normal or may show abnormalities, including cerebellar hypoplasia, poor development of the corpus callosum, dysmorphic hippocampus, and polymicrogyria. Feeding difficulties, hypotonia, and seizures may also be observed ({1:Duncan et al., 2020})." +619321,"Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is characterized by microcephaly, congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, and early mortality ({1:Ito et al., 2018})." +619322,"Marbach-Rustad progeroid syndrome (MARUPS) is characterized by progeroid appearance with little subcutaneous fat and triangular facies, growth retardation with short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. Psychomotor development is normal. Although features are reminiscent of Hutchinson-Gilford progeria syndrome (HGPS; {176670}), MARUPS is less severe, with a relatively good prognosis. Two patients have been reported ({1:Marbach et al., 2019})." +619323,"Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO) is an autosomal recessive disorder with a highly variable phenotype. Some patients have early normal development with developmental regression apparent in the first years of life, whereas others present with hypotonia or delayed development. Most patients develop significant gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. Other more variable features may include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, and seizures. Brain imaging may show cerebellar or cerebral atrophy and enlarged ventricles. There is a wide phenotypic spectrum with features that may develop with age; the disorder appears to comprise a continuum of evolving neurologic manifestations ({1:Harms et al., 2020})." +619324,"Hypertriglyceridemia-2 (HYTG2) is characterized by moderately to severely elevated plasma triglyceride levels, increased total cholesterol levels, and low levels of high density lipoprotein (HDL) cholesterol. Reduced penetrance has been observed ({3:Lee et al., 2011}; {1:Cefalu et al., 2015})." +619325,"Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS ({1:Barish et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 ({135900})." +619326,"BDV syndrome (BDVS) is an autosomal recessive disorder characterized by early-onset profound obesity, hyperphagia, and moderately impaired intellectual development accompanied by infantile hypotonia and other endocrine disorders including hypogonadotropic hypogonadism, hypothyroidism, and insulin resistance (summary by {2:Bosch et al., 2021})." +619328,"Hypomyelinating leukodystrophy-22 (HLD22) is a neurologic disorder characterized by global developmental delay with mildly impaired intellectual development and marked motor impairment with limited or no ability to walk and dysarthria. Affected individuals have limb spasticity with pyramidal signs, as well as nystagmus, hypermetropia, and astigmatism. Brain imaging shows hypomyelination and a delay in myelination, although serial imaging shows some progress in both the central and peripheral white matter regions ({2:Riedhammer et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}." +619329,"Multifocal fibromuscular dysplasia (FMDMF) is characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Arterial tortuosity, macroaneurysms, dissections, and rupture may occur (summary by {2:Richer et al., 2020})." +619333,"Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy. The severity is variable (summary by {1:Kour et al., 2021})." +619334,"Arthrogryposis multiplex congenita-6 (AMC6) is a severe autosomal recessive disorder of skeletal muscle with onset of symptoms in utero. The pregnancies are usually complicated by polyhydramnios and reduced fetal movements. Affected individuals have congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops. Fetal demise or termination of pregnancy often occurs after ultrasound detection of abnormalities. Those that survive to birth have significant hypotonia with absent spontaneous movements, respiratory insufficiency, arthrogryposis, and multiple pterygia. Skeletal muscle is hypoplastic, immature, and underdeveloped, with nemaline rods, poorly developed sarcomeres, and poor cross-striation. Death in infancy usually occurs (summary by {2:Ahmed et al., 2018}, {7:Rocha et al., 2021}).\n\nFor a discussion of genetic heterogeneity of AMC, see AMC1 ({617468})." +619338,"Cataracts, spastic paraparesis, and speech delay (CSPSD) is an autosomal dominant disorder characterized by spastic paraparesis and bilateral congenital/juvenile cataracts. Speech delay is a common feature ({1:Ferdinandusse et al., 2021})." +619339,"Bartsocas-Papas syndrome-2 (BPS2) is a severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations (summary by {1:Leslie et al., 2015})." +619340,"Developmental and epileptic encephalopathy-96 (DEE96) is characterized by onset of seizures in the first days or weeks of life. Affected infants have tonic or myoclonic seizures associated with burst-suppression pattern on EEG. They also have hypotonia with respiratory insufficiency that may result in premature death. Those that survive have profound developmental delay and persistent seizures (summary by {2:Suzuki et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +619343,"Proximal 1p36 deletion syndrome is a multisystem developmental disorder characterized by global developmental delay with impaired intellectual development, poor overall growth with microcephaly, axial hypotonia, and dysmorphic facial features. Most patients have congenital cardiac malformations or cardiac dysfunction. Additional more variable features may include distal skeletal anomalies, seizures, and cleft palate. The phenotype shows some overlap with distal chromosome 1p36 deletion syndrome (summary by {1:Kang et al., 2007})." +619345,"Dysostosis multiplex, Ain-Naz type (DMAN) is a severe progressive skeletal dysplasia with features of a metabolic disorder. Patients exhibit marked short stature, coarse facies with broad nose and prominent lips, and a distended abdomen, and experience severe physical disability. Early death has been observed in some patients ({1:Ain et al., 2021})." +619350,"Visceral myopathy-2 (VSCM2) is characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Some patients exhibit predominantly esophageal symptoms, with hiatal hernia and severe reflux resulting in esophagitis and stricture, whereas others experience chronic intestinal pseudoobstruction. Bladder involvement resulting in megacystis and megaureter has also been observed and may be evident at birth ({1:Dong et al., 2019}; {2:Gilbert et al. (2020)})." +619351,"Megacystis-microcolon-intestinal hypoperistalsis syndrome-2 (MMIHS2) is characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure (summary by {4:Wang et al., 2019}).\n\nFor a discussion of genetic heterogeneity of MMIHS, see {249210}." +619352,"Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) is a neurodevelopmental disorder characterized by delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Affected individuals have global developmental delay with mildly impaired intellectual development and speech delay or learning disabilities. Eye movement abnormalities may also be present. Brain imaging shows cerebellar atrophy in some patients (summary by {1:Webb et al., 2021})." +619354,"Deafness, cataract, impaired intellectual development, and polyneuropathy (DCIDP) is characterized by early-onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area ({1:Kroll-Hermi et al., 2020})." +619355,"Mitochondrial complex IV deficiency nuclear type 22 (MC4DN22) is an autosomal recessive metabolic disorder characterized by neonatal hypertrophic cardiomyopathy, encephalopathy, and severe lactic acidosis with fatal outcome ({1:Wintjes et al., 2021})." +619356,"Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, and hypoplastic terminal phalanges and nails. Patients have seizures or tonic posturing. The disorder is associated with a defect in GPI anchoring of membrane-bound proteins (summary by {1:Salian et al., 2021}).\n\nFor a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 ({610293}).\n\nSee also DOORS syndrome ({220500}), which shows some overlapping clinical features." +619360,"Hereditary angioedema-4 (HAE4) is an autosomal dominant disorder characterized by episodic subcutaneous or submucosal edema with onset usually in adulthood. Swelling most commonly involves the face and tongue, sometimes resulting in occlusion of the airway, which can cause death. The larynx, abdomen, and limbs may also be involved. Circulating C1 inhibitor (C1INH) levels and function, as well as plasminogen levels and activity, are normal. Although the disorder is autosomal dominant, there is evidence of incomplete penetrance, variable expressivity, and female predominance. The episodes may be triggered by stress, oral contraceptives, ACE inhibitors, and angiotensin II receptor blockades. The pathogenesis is believed to be due to altered plasmin function resulting in enhanced release of bradykinin. Successful clinical management has been achieved with tranexamic acid, which inhibits plasmin, and icatibant, a selective bradykinin B2 receptor ({113503}) antagonist (summary by {4:Farkas et al., 2021}).\n\nFor a discussion of genetic heterogeneity of HAE, see {106100}." +619361,"Hereditary angioedema-5 (HAE5) is an autosomal dominant disorder characterized by localized and self-limiting edema of the subcutaneous or submucosal tissue due to an episodic increase in vascular permeability. Affected individuals have onset of episodic swelling of the face, lips, hands, and abdomen in the second decade of life. Treatment with tranexamic acid may be effective in reducing the severity and frequency of the attacks (summary by {1:Bafunno et al., 2018}).\n\nFor a discussion of genetic heterogeneity of hereditary angioedema, see {106100}." +619362,"Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital defect of visceral smooth muscle, primarily affecting females who present at birth with functional obstruction of the intestine, microcolon, dilation of the bladder, and secondary hydronephrosis. Total parenteral nutrition, adequate intermittent catheterization of bladder, and surgical corrections for intestinal malrotation are frequent modes of treatment for this disease without which rapid death ensues. In some instances, multivisceral organ transplantation has been undertaken with some success. Despite these clinical interventions, MMIHS often leads to premature death due to complications of therapy (summary by {1:Halim et al., 2017}).\n\nFor a discussion of genetic heterogeneity of MMIHS, see {249210}." +619363,"Hereditary angioedema-6 (HAE6) is an autosomal dominant disorder characterized by onset of episodic subcutaneous and submucosal swelling in adulthood. The face, mouth, and tongue are often affected; some patients have distal limb or abdominal edema. Levels of complement component inhibitor (C1INH; {606860}) are normal (summary by {1:Bork et al., 2019}).\n\nFor a discussion of genetic heterogeneity of HAE, see {106100}." +619365,"Megacystis-microcolon-intestinal hypoperistalsis syndrome-4 (MMIHS4) is a severe early-onset disorder characterized by impaired smooth muscle contractility in the bladder and intestines ({1:Kandler et al., 2020}).\n\nFor a discussion of genetic heterogeneity of MMIHS, see {249210}." +619366,"Hereditary angioedema-7 (HAE7) is an autosomal dominant disorder characterized by onset of recurrent episodic swelling of the face, lips, and oral mucosa in the second decade. The disorder is due to abnormal vascular permeability (summary by {1:Ariano et al., 2020}).\n\nFor a discussion of genetic heterogeneity of HAE, see {106100}." +619367,"Hereditary angioedema-8 (HAE8) is an autosomal dominant disorder characterized clinically by recurrent and self-limited episodes of localised edema in various organs, including the face, tongue, larynx, and extremities. In rare cases, swelling of the tongue or larynx can lead to airway obstruction. Abdominal attacks may also occur, resulting in abdominal pain, vomiting, and diarrhea. The disorder results from enhanced vascular permeability (summary by {1:Bork et al., 2021}).\n\nFor a discussion of genetic heterogeneity of HAE, see {106100}." +619369,"Lymphatic malformation-10 (LMPHM10) is an autosomal dominant disorder characterized by onset of lymphedema within the first year of life. Lymphedema primarily involves the lower extremities but may also occur in the neck, upper extremities, and scrotum or labia majora. Gradual resorption generally occurs, although some patients may experience progression complicated by cellulitis ({1:Leppanen et al., 2020}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see {153100}." +619371,"Dilated cardiomyopathy-2D (CMD2D) is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation ({2:Ganapathi et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see {115200}." +619373,"Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) is characterized by onset of severe and frequent epileptic spasms within the first year of life. Affected individuals have global developmental delay with delayed walking and poor or absent speech. More variable features may include poor overall growth, high-arched palate, and delayed myelination on brain imaging (summary by {1:Fatima et al., 2021})." +619374,"Immunodeficiency-81 (IMD81) is an autosomal recessive complex disorder with onset of recurrent infections, including fungal infections, in early infancy, associated with T-cell, neutrophil, and NK dysfunction. B cells may also show maturation abnormalities. Other features include autoimmune hemolytic anemia and abnormal platelet aggregation, indicating a complex disorder with a wide range of hematopoietic disturbances. The disorder is caused by a defect in intracellular signaling pathways (summary by {3:Lev et al., 2021})." +619375,"Familial autoinflammatory syndrome with or without immunodeficiency (AISIMD) is characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SLE; see {152700}). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by {2:Hadjadj et al., 2020})." +619376,"Faundes-Banka syndrome (FABAS) is an autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features ({1:Faundes et al., 2021})." +619377,"Osteootohepatoenteric syndrome (OOHE) is characterized by a variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea. Some patients also display mild developmental delay and intellectual disability ({1:Esteve et al., 2018})." +619379,"Spermatogenic failure-54 (SPGF54) is characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility ({1:Arafat et al., 2021}).\n\nFor a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619380,"Spermatogenic failure-55 (SPGF55) is characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility ({1:Xu et al., 2018}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619381,"Immunodeficiency-82 with systemic inflammation (IMD82) is a complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP; {123260}), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway. Treatment with SYK inhibitors rescued human cell abnormalities and resulted in clinical improvement in mice ({1:Wang et al., 2021})." +619382,"Autosomal recessive Leber hereditary optic neuropathy (LHONAR) is characterized by bilateral synchronous or asynchronous vision loss with variable recovery of visual acuity. The visual field defect is typically in the central visual field. The disorder shows incomplete penetrance and male predominance ({1:Stenton et al., 2021})." +619383,"Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA) is an autosomal recessive neurologic syndrome characterized by global developmental delay with severely impaired intellectual development, hypotonia and muscle weakness, often resulting in the inability to walk or sit, and characteristic coarse facial features. Additional features include feeding difficulties, respiratory distress, scoliosis, poor visual function, and rotary nystagmus. Brain imaging shows variable abnormalities, including enlarged ventricles, decreased white matter volume, white matter changes, thin corpus callosum, and cerebellar hypoplasia (summary by {2:Loddo et al., 2020})." +619386,"Combined oxidative phosphorylation deficiency-52 (COXPD52) is an autosomal recessive infantile mitochondrial complex II/III deficiency characterized by lactic acidemia, multiorgan system failure, and abnormal mitochondria. Intrafamilial variability has been reported ({1:Farhan et al., 2014}; {2:Hershkovitz et al., 2021}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +619389,"Autosomal recessive spinocerebellar ataxia-29 (SCAR29) is a progressive neurodegenerative disorder characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development. Other features include dysarthria, nystagmus, peripheral spasticity, nystagmus, and visual impairment. Brain imaging typically shows atrophy of the cerebellar vermis, but other abnormalities may also be present. Some patients are wheelchair-bound and/or nonverbal (summary by {2:Sanderson et al., 2021})\n\nIn a review of the pathogenesis of disorders with prominent dystonia as a feature, {1:Monfrini et al. (2021)} classified SCAR29 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS41." +619396,"Susceptibility to infection-induced acute encephalopathy-10 (IIAE10) presents as neurologic deficits in response to acute infection, particularly with herpes simplex virus-1 (HSV-1), which leads to inflammation of the brain and herpes simplex encephalitis (HSE). The age at onset ranges from infancy to adult. However, some mutation carriers do not develop encephalopathy even if exposed to the virus, indicating incomplete penetrance (summary by {1:Lafaille et al., 2019}).\n\nFor a phenotypic description of herpes simplex encephalitis (HSE) and a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see {610551}." +619398,"Infantile ulcerative colitis (IBD31) is characterized by the presence of ulcers throughout the colon and rectum with normal-appearing ileum. Affected infants present with recurrent bloody diarrhea with anemia and leukocytosis, with extensive lymphoplasmocytic infiltration, cryptitis, and apoptotic crypt abcesses throughout the colon and rectum ({1:Zhang et al., 2021}). Infantile bowel disease has also been referred to as very-early-onset IBD (VEOIBD).\n\nFor a general description and discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis, see IBD1 ({266600})." +619400,"African degenerative visceral leiomyopathy (ADL) is a distinctive visceral myopathy with onset in childhood. It presents as intestinal pseudoobstruction with a massive megacolon due to degeneration of smooth muscle without aganglionosis ({4:Van Rensburg et al., 2012}). Some patients have megaureter and megacystis ({3:Rode et al., 1992})." +619401,"Lymphatic malformation-11 (LMPHM11) is characterized by lower extremity edema, with onset in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations ({1:Michelini et al., 2020}).\n\nFor a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 ({153100})." +619402,"Familial hypertrophic cardiomyopathy-28 (CMH28) is characterized by asymmetric septal hypertrophy, atrial fibrillation and nonsustained ventricular tachycardia, and risk of sudden death. Dyspnea is the most common symptom, but more than half of affected individuals are asymptomatic. Hypertrabeculation of the left ventricle with noncompaction has been observed in some patients ({3:Ochoa et al., 2018}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 ({192600})." +619405,"Autosomal recessive spinocerebellar ataxia-30 (SCAR30) is a progressive neurologic disorder characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia. Affected individuals may also have psychiatric abnormalities, such as obsessive behavior, psychotic episodes, or hallucinations. Brain imaging usually shows cerebellar atrophy, although this may be an age-dependent feature (summary by {3:Langer et al., 2018})." +619406,"Hypokalemic tubulopathy and deafness (HKTD) is an autosomal recessive disorder characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness ({1:Schlingmann et al., 2021})." +619407,"WHIM syndrome-2 (WHIMS2) is an autosomal recessive immunologic disorder characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow. Affected individuals have recurrent infections, usually bacterial (summary by {1:Auer et al., 2014}).\n\nIn a review of WHIMS, {2:Heusinkveld et al. (2019)} noted that there is significant phenotypic variation among patients, such that some individuals may have an 'incomplete' form of the disorder in which 1 or more of the classic tetrad features are not present. In general, the WHIMS phenotype comprises a spectrum of manifestations with variable expressivity.\n\nFor a discussion of genetic heterogeneity of WHIMS, see {193670}." +619418,"Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-2 (IMNEPD2) is an autosomal recessive multisystemic disorder characterized by cholestatic hepatitis, poor feeding associated with poor overall growth, and hypoglycemia apparent from infancy. Most, but not all, patients have variable global developmental delay. Additional common features include sensorineural deafness, retinal abnormalities with visual defects, and hypotonia. Some patients have endocrine abnormalities, including hyperinsulinemic hypoglycemia, pancreatic dysfunction, hypothyroidism, and primary amenorrhea. Additional features may include hypertriglyceridemia, anemia, proteinuria, increased lactate, and recurrent infections. Brain imaging often shows dysmyelination, thin corpus callosum, cerebral atrophy, and white matter abnormalities. Although the clinical manifestations and severity of the disorder are highly variable, death in early childhood may occur (summary by {4:Williams et al., 2019} and {5:Zeiad et al., 2021}).\n\nFor a discussion of genetic heterogeneity of IMNEPD, see IMNEPD1 ({616263})." +619420,"Martsolf syndrome-2 (MARTS2) is an autosomal recessive disorder with the main features of congenital cataracts, mildly to severely impaired intellectual development, and facial dysmorphism. Other features include brain malformations, microcephaly, and hypogonadism-hypogenitalism (summary by {2:Koparir et al., 2019})." +619422,"Autosomal recessive spinocerebellar ataxia-31 (SCAR31) is a complex neurodevelopmental disorder characterized by global developmental delay with hypotonia and variably impaired intellectual and language development. Affected individuals have an ataxic gait, tremor, and dysarthria; more severely affected patients also have spasticity with inability to walk. Most have optic atrophy. Brain imaging shows cerebellar hypoplasia, enlarged ventricles, and atrophy of the posterior corpus callosum. Additional features may include retinitis pigmentosa, sensorineural deafness, dysmorphic facial features, and possibly endocrine dysfunction (summary by {1:Collier et al., 2021})." +619423,"Combined oxidative phosphorylation deficiency-53 (COXPD53) is an autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination (summary by {1:Lausberg et al., 2021}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +619424,"Infantile-onset myofibrillar myopathy-12 with cardiomyopathy (MFM12) is a severe autosomal recessive disorder affecting both skeletal and cardiac muscle tissue that is apparent in the first weeks of life. Affected infants show tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure, usually resulting in death by 6 months of age. Skeletal and cardiac muscle tissues show hypotrophy of type I muscle fibers and evidence of myofibrillar disorganization (summary by {3:Weterman et al., 2013}).\n\nFor a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 ({601419})." +619425,"Mitochondrial DNA depletion syndrome-16B (MTDPS16B) is an autosomal recessive childhood-onset and progressive neuroophthalmic mtDNA depletion disorder characterized by optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia, and generalized chorea ({1:Dosekova et al., 2020})." +619426,"White-Kernohan syndrome (WHIKERS) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, hypotonia, and characteristic facial features. Some patients may have abnormalities of other systems, including genitourinary and skeletal (summary by {1:White et al., 2021})." +619428,"Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) is characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed (summary by {1:Assoum et al., 2018} and {6:Weng et al., 2021})." +619431,"Megacystis-microcolon-intestinal hypoperistalsis syndrome-5 (MMIHS5) is a form of visceral myopathy characterized by significant inter- and intrafamilial variability, with the most severely affected patients exhibiting prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization ({6:Wangler et al., 2014}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of MMIHS, see MMIHS1 ({249210})." +619433,"Familial restrictive cardiomyopathy-6 (RCM6) is characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death ({1:Louw et al., 2018}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of familial restrictive cardiomyopathy, see RCM1 ({115210})." +619435,"Ritscher-Schinzel syndrome-4 (RTSC4) is characterized by a constellation of congenital anomalies, including dysmorphic craniofacial features and structural brain anomalies, such as Dandy-Walker malformation ({220200}), hindbrain malformations, or agenesis of the corpus callosum, associated with global developmental delay and impaired intellectual development. Congenital cardiac defects have been reported in 1 family (summary by {4:Ritscher et al., 1987} and {2:Jeanne et al., 2021}).\n\nFor a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 ({220210})." +619436,"Primary ciliary dyskinesia-46 (CILD46) is characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia. No situs abnormalities have been observed ({1:Edelbusch et al., 2017}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +619437,"Immunodeficiency-84 (IMD84) is an autosomal dominant primary immunologic disorder characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development. There may also be variable T-cell abnormalities. Patients with IMD84 have increased susceptibility to infection with Epstein-Barr virus (EBV) and may develop lymphoma in adulthood (summary by {1:Yamashita et al., 2021})." +619441,"Susceptibility to acute infection (viral)-induced encephalitis-11 (IIAE11) is an autosomal recessive disorder characterized by increased susceptibility to viral encephalitis with neurotropic viruses, such as herpes simplex virus-1 (HSV-1), influenza B virus (IBV), or norovirus (NV), beginning in the first decade of life. The brainstem is specifically affected, suggesting a defect in tissue-specific and cell-intrinsic immunity. The disease is often fatal (summary by {1:Zhang et al., 2018}).\n\nFor a discussion of genetic heterogeneity of susceptibility to acute infection (viral)-induced encephalitis or encephalopathy, see {610551}." +619445,"Microvillus inclusion disease (DIAR12) is a congenital enteropathy characterized by neonatal-onset intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. Patients may tolerate limited enteral feeding, but are dependent on total parenteral nutrition (TPN) and require eventual small bowel and/or liver transplantation. Pathologic hallmarks include variable loss of brush-border microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes (summary by {3:Wiegerinck et al., 2014}).\n\nAnother form of microvillus inclusion disease, MVID1 (DIAR2; {251850}), is caused by mutation in the MYO5B gene ({606540}). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 ({214700}).\n\nMutations in the STX3 gene that affect only isoform A (STX3A) cause DIAR12, whereas mutations in STX3 affecting both STX3A and isoform B (STX3B), which predominates in retinal tissue, cause a syndrome involving severe early-onset retinal dystrophy and MVID (RDMVID; {619446})." +619446,"Retinal dystrophy and microvillus inclusion disease (RDMVID) is characterized by early-onset severe retinal dystrophy in association with intractable congenital diarrhea requiring total parenteral nutrition (TPN). Intestinal biopsies show typical features of microvillus inclusion disease (MVID), including loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles in epithelial cells ({2:Janecke et al., 2021}).\n\nBecause STX3 isoform B (STX3B) predominates in the retina, mutations in the STX3 gene that affect both isoform A (STX3A) and STX3B cause both retinal and gastrointestinal disease (RDMVID), whereas mutations in STX3 affecting only the STX3A transcript cause only diarrhea (DIAR12; {619445})." +619451,"Autosomal recessive cutis laxa type IIE (ARCL2E) is characterized by connective tissue features, including generalized cutis laxa and inguinal hernia, craniofacial dysmorphology, variable mild heart defects, and prominent skeletal features, including craniosynostosis, short stature, brachydactyly, clinodactyly, and syndactyly ({1:Pottie et al., 2021}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100})." +619452,"Anencephaly-2 (ANPH2) is a severe neural tube defect caused by failure of neural tube closure anteriorly. Features in addition to anencephaly may include frontonasal dysplasia with midline cleft of the upper lip and alveolar ridge, bifid nose, and clinical anophthalmia.\n\nFor a discussion of genetic heterogeneity of anencephaly, see ANPH1 ({206500})." +619453,"Autosomal recessive primary microcephaly-28 (MCPH28) is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood (summary by {1:Farooq et al., 2020}).\n\nFor a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200})." +619460,"Luo-Schoch-Yamamoto syndrome (LUSYAM) is a neurodevelopmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have delayed walking, early-onset seizures, hypotonia, dysmorphic facial features, and white matter abnormalities on brain imaging ({1:Luo et al., 2021})." +619461,"Autosomal recessive presynaptic congenital myasthenic syndrome-7B (CMS7B) is characterized by severe generalized muscle weakness apparent from birth; decreased fetal movements may be apparent in utero. Affected infants have generalized hypotonia with poor cry and feeding, head lag, and facial muscle weakness with ptosis. Some patients may have respiratory involvement. Electrophysiologic studies show decreased compound muscle action potentials (CMAPs) and a decremental response to repetitive nerve stimulation. Treatment with 3,4-diaminopyridine and pyridostigmine may result in clinical improvement (summary by {1:Bauche et al., 2020})." +619462,"Rh-induced hemolytic disease of the fetus and newborn (HDFNRH) occurs in pregnancies in which mothers who lack the D antigen (RhD) of the Rh blood group ({111690}) have been exposed to the RhD-positive red cells of the fetus. The resulting maternal autoantibodies cross the placenta and destroy fetal red cells (summary by {9:Urbaniak and Greiss, 2000})." +619463,"Noncirrhotic portal hypertension-2 (NCPH2) is an autosomal recessive disorder characterized by signs of liver dysfunction that become apparent in the first decades of life. Affected individuals have jaundice, hyperbilirubinemia, pancytopenia, including neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly, and esophageal varices. Some patients may have recurrent infections or features suggestive of an immunodeficiency. Liver biopsy is notable for the absence of cirrhosis and the presence of nodular regeneration. Liver sinusoidal endothelial cells (LSECs) have abnormal expression of CD34 ({142230}) (summary by {2:Drzewiecki et al., 2021}).\n\nFor a discussion of genetic heterogeneity of NCPH, see {617068}." +619464,"Sick sinus syndrome-4 (SSS4) is characterized by early and progressive sinus node and atrioventricular conduction dysfunction. Patients show bradycardia and chronotropic incompetence, and may experience syncope. Atrioventricular conduction block ranges from mild to severe, and some patients also have intermittent atrial fibrillation. Many require implantation of a pacemaker, but sudden cardiac death has not been reported ({1:Stallmeyer et al., 2017}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of sick sinus syndrome, see SSS1 ({608567})." +619465,"Autosomal recessive visceral neuropathy-2 (VSCN2) is characterized by intestinal dysmotility due to aganglionosis or hypoganglionosis of the colon. Patients also exhibit peripheral axonal neuropathy, ptosis, and sensorineural hearing loss ({1:Le et al., 2021}).\n\nFor a discussion of genetic heterogeneity of VSCN, see VSCN1 ({243180})." +619466,"Primary ciliary dyskinesia-47 and lissencephaly (CILD47) is an autosomal recessive disorder characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Affected individuals also have neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. The disorder results from impaired function of motile ciliopathy and can be classified as 'reduced generation of multiple motile cilia' (RGMC). Situs inversus is not observed (summary by {1:Wallmeier et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 ({244400})." +619467,"Autosomal dominant Usmani-Riazzudin syndrome (USRISD) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities, most commonly aggressive behavior. More variable additional features may include seizures and distal limb anomalies (summary by {1:Usmani et al., 2021})." +619468,"Nephronophthisis-like nephropathy-2 (NPHPL2) is an autosomal recessive cystic kidney disease characterized by onset of progressive renal insufficiency in the first decades of life. Renal imaging and biopsy show corticomedullary cysts, tubular ectasia, tubular basement membrane disruption, and tubulointerstitial infiltrations. Patients eventually progress to end-stage renal failure, necessitating kidney transplantation or dialysis (summary by {1:Hurd et al., 2013}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 ({256100})." +619470,"Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities (NEDMOSBA) is an autosomal recessive disorder characterized by global developmental delay apparent from early childhood. There is significant phenotypic variability: some patients achieve walking and talking after a few years, whereas others develop spastic tetraplegia with inability to walk independently and never gain proper speech. Affected individuals may have variable additional features, including poor overall growth, hypotonia, tremor, ocular anomalies, seizures, and nonspecific dysmorphic facial features (summary by {1:Polla et al., 2021})." +619471,"Bardet-Biedl syndrome-20 (BBS20), a rare autosomal recessive disorder associated with ciliary dysfunction, is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females ({3:Saida et al., 2014}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 ({209900})." +619472,"VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay ({2:Van Gucht et al., 2021}). Immune dysregulation has been observed in some patients ({3:Ziegler et al., 2021})." +619473,"Oculopharyngodistal myopathy-3 (OPDM3) is a neuromyodegenerative disease characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties. The onset of the disorder is usually in adulthood, although childhood onset has rarely been reported. Additional features include hyporeflexia, proximal muscle weakness, neck muscle weakness, dysarthria, dysphagia, and ptosis. Some patients may develop pigmentary retinopathy, peripheral neuropathy, or hearing loss. Cognition is usually not affected, but there may be deficits or psychiatric manifestations. Brain imaging tends to show a leukoencephalopathy, often with a characteristic linear signal along the corticomedullary junction on brain imaging. Skin and muscle biopsy show intranuclear inclusions and rimmed vacuoles. Many of the clinical features are reminiscent of NIID, suggesting that these disorders likely fall within a broad phenotypic spectrum of diseases with neuromyodegenerative features associated with abnormal repeat expansions in this gene (summary by {1:Ogasawara et al., 2020} and {2:Yu et al., 2021}).\n\nFor a discussion of genetic heterogeneity of OPDM, see OPDM1 ({164310})." +619475,"Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by {1:Cousin et al., 2021})." +619476,"Joubert syndrome-38 (JBTS38) is characterized by hypotonia, global developmental delay, oculomotor apraxia, and breathing abnormalities, with a 'molar tooth sign' on brain MRI. Patients also exhibit pituitary abnormalities with growth hormone deficiency ({1:Stephen et al., 2017}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300})." +619477,"Facioscapulohumeral muscular dystrophy-3 (FSHD3) is a digenic muscle disorder characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs. Muscle involvement is usually asymmetric, and other muscle groups may become involved with progression of the disease (summary by {1:Hamanaka et al., 2020}).\n\nFor a discussion of genetic heterogeneity of FSHD, see FSHD1 ({158900})." +619478,"Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles. With disease progression, other muscles also may become affected. There is significant clinical variability and incomplete penetrance (summary by {1:van den Boogaard et al., 2016}).\n\nFor a discussion of genetic heterogeneity of FSHD, see FSHD1 ({158900})." +619479,"Short-rib thoracic dysplasia-21 (SRTD21) is characterized by rhizomelic limb shortening with bowing of long bones and metaphyseal abnormalities, narrow chest with short broad ribs, and trident pelvis. Other features include hypotonia and global developmental delay, with corpus callosum hypoplasia and cerebellar vermis abnormalities on brain imaging, which may show the 'molar tooth' sign ({3:Hammarsjo et al., 2017}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of SRTD, see SRTD1 ({208500}).\n\nMutation in the KIAA0753 gene also causes orofaciodigital syndrome (OFD15; {617127}) and Joubert syndrome (JBTS28; {619476}), phenotypes with features overlapping those of SRTD21." +619480,"Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC) is characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and dysmorphic facial features. Brain imaging tends to show thin corpus callosum and decreased white matter volume. Additional features such as seizures, cardiac defects, and behavioral abnormalities may also occur. The phenotype is variable (summary by {1:Bina et al., 2020})." +619481,"Primary bile acid malabsorption-2 (PBAM2) is an autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease ({1:Sultan et al., 2018}).\n\nFor discussion of genetic heterogeneity of primary bile acid malabsorption, see PBAM1 ({613291})." +619482,"Congenital central hypoventilation syndrome-2 and autonomic dysfunction (CCHS2) is an autosomal recessive disorder characterized by shallow breathing and apneic spells apparent in the neonatal period. Affected infants require mechanical ventilation due to impaired ventilatory response to hypercapnia, as well as tube feeding due to poor swallowing, aspiration, and gastrointestinal dysmotility. Some patients have other features of autonomic dysfunction, including bladder dysfunction, sinus bradycardia, and temperature dysregulation. Although mild global developmental delay with learning difficulties and seizures were present in the single family reported, it was unclear if these features were related to the hypoventilation phenotype ({1:Spielmann et al., 2017}).\n\nFor a discussion of genetic heterogeneity of CCHS, see CCHS1 ({209880})." +619483,"Congenital central hypoventilation syndrome-3 (CCHS3) is an autosomal recessive disorder characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present in the neonatal period with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Patients also have gastrointestinal problems manifest as feeding difficulties and diarrhea or constipation. Other features may include poor heat tolerance and paroxysmal hypertension ({1:Hernandez-Miranda et al., 2018}).\n\nFor a discussion of genetic heterogeneity of CCHS, see CCHS1 ({209880})." +619484,"Progressive familial intrahepatic cholestasis-6 (PFIC6) is an autosomal recessive disorder characterized by elevated liver transaminases, cholestasis, and congenital diarrhea ({1:Gao et al., 2020}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 ({211600})." +619486,"Aicardi-Goutieres syndrome-8 (AGS8) is a type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification ({1:Uggenti et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 ({225750})." +619487,"Aicardi-Goutieres syndrome-9 (AGS9) is a type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure ({1:Uggenti et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 ({225750})." +619488,"DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by {1:Bertoli-Avella et al., 2021})." +619489,"Short stature of the Dauber-Argente type (SSDA) is characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, and mildly decreased bone density. Patients have elevated circulating levels of total IGF1 ({147440}) due to impaired proteolysis of IGFBP3 ({146732}) and IGFBP5 ({146734}), resulting in reduced free IGF1 ({4:Dauber et al., 2016})." +619491,"Parkinson disease-24 (PARK24) is an autosomal dominant disorder characterized by classic Parkinson disease features, including adult onset, asymmetric limb involvement initially, and slowly progressive motor dysfunction. PARK24 shows incomplete penetrance, consistent with the presence of the PSAP mutation being a susceptibility factor for development of the disease ({2:Oji et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}." +619492,"CMD2E is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation ({2:Vasilescu et al., 2018}; {1:Jones et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see {115200}." +619493,"Congenital disorder of glycosylation type 2v (CDG2V) is an autosomal recessive disorder characterized by neurodevelopmental delay and variable facial dysmorphisms ({1:Polla et al., 2021})." +619500,"DNFA81 is characterized by postlingual onset of slowly progressive sensorineural hearing loss ({1:Li et al., 2018})." +619501,"Ventriculomegaly and arthrogryposis (VENARG) is a severe autosomal recessive congenital disorder characterized by the onset of features in utero that are not compatible with life. Affected pregnancies are terminated spontaneously or by plan due to the severity of the defects. Prenatal ultrasound and autopsy show limb contractures consistent with arthrogryposis and enlarged brain ventricles that may be associated with hydrocephalus, abnormalities of the corpus callosum, and cerebellar hypoplasia. Some affected fetuses may also have congenital heart disease and hydrops fetalis (summary by {3:Mero et al., 2017} and {1:El-Dessouky et al., 2020})." +619503,"Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by {3:Tan et al., 2022})." +619504,"Chopra-Amiel-Gordon syndrome (CAGS) is an autosomal dominant disorder characterized by developmental delay and/or impaired intellectual development, speech delay, facial dysmorphism, and variable other features, including recurrent bacterial infections, ophthalmologic abnormalities, and nonspecific brain abnormalities ({1:Chopra et al., 2021})." +619510,"Immunodeficiency-85 and autoimmunity (IMD85) is an autosomal dominant immunologic disorder characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life. Affected individuals also develop autoimmune enteropathy with vomiting, diarrhea, and poor overall growth. More variable features may include autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. Laboratory studies show hypogammaglobulinemia and abnormal T-cell function, consistent with a combined immunodeficiency ({1:Keskitalo et al., 2019})." +619512,"Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) is characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood. Some affected individuals may have feeding difficulties, seizures, behavioral abnormalities, and nonspecific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum defects, cerebellar defects, and decreased white matter volume. There is significant phenotypic variability (summary by {1:Duncan et al., 2021})." +619515,"Spermatogenic failure-56 (SPGF56) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), resulting in severely reduced sperm motility ({1:Tu et al., 2021}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619517,"Neurodevelopmental disorder with seizures and brain abnormalities (NEDSBA) is an autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life associated with structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity (summary by {1:Duncan et al., 2021})." +619518,"Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) is an autosomal recessive systemic disorder characterized by progressive muscle weakness, sensorineural hearing loss, and endocrine abnormalities, mainly primary amenorrhea due to ovarian insufficiency. Features of the disorder appear soon after birth, although endocrine anomalies are not noted until puberty. The severity of the phenotype is variable: some patients may lose ambulation and have significant respiratory insufficiency, whereas others retain the ability to walk (summary by {1:Foley et al., 2020})." +619519,"Charcot-Marie-Tooth disease type 2FF (CMT2FF) is an autosomal dominant progressive axonal sensorimotor peripheral neuropathy characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs. Most patients have foot and ankle deformities, requiring surgery or walking aids. Some patients lose independent ambulation. There is also prominent involvement of the upper limbs, with weakness and atrophy of the forearm, wrist, and intrinsic hand muscles. Proximal muscle function is preserved. Affected individuals have variable distal sensory impairment. Most patients have hyporeflexia, although brisk reflexes, suggesting upper motor involvement, have been described in 1 family. Sural nerve biopsy showed abnormal myelination ({1:Rebelo et al., 2021}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A ({118210})." +619521,"Idiopathic generalized epilepsy is characterized by various types of seizures, including childhood and juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures upon awakening (EGTCA). EEG often shows spike-wave discharges. EIG18 is an autosomal dominant disorder manifest as myoclonic seizures in infancy. Although the seizures remit, some patients may have later speech or cognitive impairment (summary by {1:Becker et al., 2017} and {2:Campostrini et al., 2018}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy (IGE), see {600669}." +619522,"Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects ({1:Connaughton et al., 2020})." +619523,"Sideroblastic anemia-5 (SIDBA5) is an autosomal recessive hematologic disorder characterized by abnormal iron accumulation in the mitochondria or erythroid cells. The pathologic iron deposits appear to ring the nucleus, resulting in a 'ringed sideroblast' on pathologic examination. Affected individuals have congenital hypochromic microcytic anemia apparent in childhood; they may also develop thrombocytopenia or pancytopenia (summary by {1:Crispin et al., 2020}).\n\nFor a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 ({300751})." +619525,"Congenital disorder of glycosylation type IIw (CDG2W) is an autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. All reported patients carry the same mutation ({602671.0017}) (summary by {2:Ng et al., 2021}).\n\nFor an overview of congenital disorders of glycosylation, see CDG1A ({212065}) and CDG2A ({212066})." +619527,"Pontocerebellar hypoplasia type 16 (PCH16) is an autosomal recessive severe neurodevelopmental disorder characterized by hypotonia and severe global developmental delay apparent from early infancy. Although the severity of the disorder is variable, most affected individuals achieve only a few, if any, developmental milestones. Most are unable to walk or speak, have eye abnormalities with poor visual contact, and develop early-onset epilepsy. Other features may include stereotypic movements, spasticity, and progressive microcephaly. Brain imaging shows pontocerebellar hypoplasia, often with thin corpus callosum, atrophy of the thalamus and basal ganglia, enlarged ventricles, and white matter abnormalities (summary by {2:Ucuncu et al., 2020}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596})." +619528,"Spermatogenic failure-57 (SPGF57) is characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage ({3:Nagirnaja et al., 2021}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619531,"Cone-rod dystrophy-22 (CORD22) is a retinal dystrophy characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life. There is significant degeneration of the macula, as well as generalized cone system involvement that predominates over rod system dysfunction, including in the peripheral retina ({1:Bertrand et al., 2021}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of CORD, see CORD2 ({120970})." +619534,"Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by {4:Shaheen et al., 2020} and {2:David et al., 2020})." +619538,"Cerebral cavernous malformations (CCMs) are vascular lesions of the central nervous system that are composed of abnormally enlarged capillary cavities without intervening brain parenchyma. CCMs manifest primarily as subclinical bleeding, but can also lead to seizures and hemorrhagic stroke with substantial neurologic complications, especially when localized in the brainstem. More than 80% of CCMs occur sporadically (summary by {1:Peyre et al., 2021}).\n\nFor a phenotypic description and discussion of genetic heterogeneity of cerebral cavernous malformations, see CCM1 ({116860})." +619539,"Neuroocular syndrome (NOC) encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by {1:Chowdhury et al., 2021})." +619542,"King-Denborough syndrome (KDS) is an autosomal dominant disorder characterized by the triad of congenital myopathy, dysmorphic features, and susceptibility to malignant hyperthermia (summary by {3:Dowling et al., 2011})." +619543,"Boudin-Mortier syndrome (BOMOS) is characterized by tall stature, arachnodactyly, disproportionately elongated great toes, and multiple extra epiphyses. Some patients also show joint hypermobility and dilation of the aortic root ({1:Boudin et al., 2018}).\n\nMutation in the NPR2 gene ({108961}) results in a similar phenotype of increased stature and elongation of the digits, particularly of the great toes, with multiple extra epiphyses (epiphyseal chondrodysplasia, Miura type; {615923})." +619545,"Hypoplastic femurs and pelvis (HYPOFP) is characterized by congenital isolated bilateral hypoplasia of the femoral and pelvic bones ({1:Socha et al., 2021})." +619548,"Autosomal recessive Usmani-Riazzudin syndrome (USRISR) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities, most commonly aggressive behavior. More variable additional features may include seizures, scoliosis, and joint laxity ({1:Usmani et al., 2021})." +619549,"Immunodeficiency-86 (IMD86) is an autosomal recessive immunologic disorder characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine. Affected individuals usually develop localized mycobacterial lymphadenopathy that can be successfully treated without subsequent episodes (summary by {3:Kong et al., 2018})." +619553,"DNFB118 is characterized by congenital profound sensorineural hearing loss and cochlear aplasia ({1:Bademci et al., 2020})." +619555,"Generalized severe epidermolysis bullosa simplex-2A (EBS2A) is an autosomal dominant skin disorder characterized by extensive intraepidermal blistering after minor mechanical stress from the time of birth with herpetiform marginal spreading and central healing. Oral mucosal involvement, nail dystrophy, onychogryposis, formation of milia, and palmoplantar hyperkeratosis are common features. Blistering is more frequent in warm weather and generally improves with advancing age. The 'severe' subtype of EBS was previously known as the Dowling-Meara type (EBSDM). In addition to the intraepidermal blister formation after minor mechanical stress common to all forms of EBS, skin biopsies from patients with the severe EBS subtype show aggregation and clumping of basal keratins on electron microscopy, resulting in a total collapse of the keratin cytoskeleton of basal keratinocytes (summary by {4:Muller et al., 1999}).\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760})." +619556,"Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features. Some affected individuals have seizures, and a few have involvement of other organ systems ({1:Goodman et al., 2021})." +619557,"SIMHA syndrome is characterized by short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies. Inter- and intrafamilial phenotypic variability has been observed ({1:Kambouris et al., 2014}; {2:Zahra et al., 2020})." +619561,"Developmental and epileptic encephalopathy-97 (DEE97) is characterized by developmental delay, epileptic encephalopathy, and impaired intellectual development. Other clinical features may include autistic features and hypotonia.\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +619562,"Joubert syndrome-39 (JBTS39) is an autosomal recessive neurodevelopmental disorder with variable manifestations. Most affected individuals have developmental delay with poor speech and retinal dystrophy with abnormal eye movements. Brain imaging shows the pathognomonic 'molar tooth sign,' which reflects abnormal cerebellar formation ({1:Van De Weghe et al., 2021}).\n\nFor a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300})." +619565,"Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family (summary by {1:Zech et al., 2022})." +619566,"Autosomal recessive limb-girdle muscular dystrophy-27 (LGMDR27) is characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation. The age at onset is highly variable, from infancy to young adulthood. Patients with infantile onset may have a more severe disease course with rapid progression. Upper limb involvement and distal muscle weakness may also occur. Additional more variable features include neck muscle weakness, scoliosis, and joint contractures. Less common features include impaired intellectual development or speech delay, cardiomyopathy, and cardiac arrhythmia. Muscle biopsy shows nonspecific dystrophic changes ({1:Coppens et al., 2021}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 ({253600})." +619573,"Immunodeficiency-87 and autoimmunity (IMD87) is an autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation (summary by {2:Serwas et al., 2019} and {1:Fournier et al., 2021})." +619574,"Axonal Charcot-Marie-Tooth disease type 2HH (CMT2HH) is an autosomal dominant peripheral neuropathy characterized predominantly by onset of vocal cord weakness resulting in stridor in infancy or early childhood. The vocal cord paresis remains throughout life and may be severe enough to require tracheostomy. Additional features of the disorder usually include pes cavus and scoliosis. Some patients have mild distal muscle weakness and atrophy primarily affecting the lower limbs, although the upper limbs may also be involved, and distal sensory impairment, often with hyporeflexia ({1:Sullivan et al., 2020}).\n\nFor a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 ({118210})." +619575,"Developmental delay with or without intellectual impairment or behavioral abnormalities is an autosomal dominant disorder with a nonspecific phenotype of developmental delay. Additional features may include neonatal feeding problems, hypotonia, and dysmorphic facial features ({1:Dulovic-Mahlow et al., 2019}; {2:van Woerden et al., 2021})." +619576,"Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) is an autosomal recessive primarily neurologic disorder with variable manifestations. Common features included infantile-onset hypotonia, poor motor development, poor feeding and overall growth, and ataxic gait due to cerebellar ataxia. Other features include dysarthria, nystagmus, variable ocular anomalies, spasticity, hyperreflexia, and nonspecific dysmorphic features. Most, but not all, patients have global developmental delay with impaired intellectual development and speech delay. Brain imaging shows cerebellar hypoplasia, often with brainstem hypoplasia, enlarged ventricles, delayed myelination, and thin corpus callosum. A significant number of patients develop cardiac conduction defects in childhood or adolescence, often requiring pacemaker placement (summary by {4:Slavotinek et al., 2020})." +619580,"Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) is characterized by axial hypotonia and global developmental delay apparent in early infancy. Affected individuals have delayed walking with gait ataxia and poor language development. Behavioral abnormalities also commonly occur. The severity is highly variable: a subset of patients have a more severe phenotype with early-onset seizures resembling epileptic encephalopathy, inability to walk or speak, and hypomyelination on brain imaging (summary by {2:Stolz et al., 2021})." +619582,"Joubert syndrome-40 (JBTS40) is an autosomal recessive neurodevelopmental disorder characterized by developmental delay, postaxial polydactyly, subtle midline notching or clefting of the upper lip, hypotonia, and the 'molar tooth sign' on brain imaging. Affected individuals do not exhibit retinal or renal anomalies, or significant obesity ({2:Zhongling et al., 2021}).\n\nFor a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 ({213300})." +619585,"Spermatogenic failure-58 (SPGF58) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF). Sperm are immotile or show severely reduced progressive motility due to short and irregular caliber flagella as well as bent, coiled, and absent flagella. Head abnormalities have also been observed, including acrosomal and postacrosomal defects ({1:Lores et al., 2021}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619588,"Generalized intermediate epidermolysis bullosa simplex-2B (EBS2B) is an autosomal dominant disorder of skin in which intraepidermal blistering occurs after minor mechanical trauma. Skin blistering is generalized, begins at birth, and is worsened by heat, humidity, and sweating. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. Intermediate EBS has previously been known as the Koebner type (summary by {5:Has et al., 2020}).\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760}).\n\n<Subhead> Reviews\n\n{5:Has et al. (2020)} reviewed characteristic features and molecular bases of the subtypes of epidermolysis bullosa, and provided a consensus reclassification of disorders with skin fragility." +619593,"Cataract-49 (CTRCT49) is characterized by congenital cataract located in the posterior region of the lens. Visual impairment has onset in early childhood ({1:Sun et al., 2019})." +619594,"Localized epidermolysis bullosa simplex-2C (EBS2C) is an autosomal dominant skin disorder with intraepidermal blistering after minor trauma mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic (summary by {7:Has et al., 2020}). Localized epidermolysis bullosa simplex has previously been known as the Weber-Cockayne type.\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760}).\n\n<Subhead> Reviews\n\n{7:Has et al. (2020)} reviewed characteristic features and molecular bases of the subtypes of epidermolysis bullosa, and provided a consensus reclassification of disorders with skin fragility." +619595,"Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities (DEHMBA) is an early-onset neurodevelopmental disorder characterized by these features. Affected individuals also have nonspecific and variable dysmorphic facial features that do not constitute a recognizable gestalt. Although the disorder is caused by truncating mutations in the SRCAP gene as is FLHS, the DEHMBA phenotype is clinically distinguishable from FLHS by the lack of short stature, brachydactyly, and delayed bone age, as well as absence of a specific facial appearance. There are some overlapping features between the 2 disorders, mainly impaired intellectual development and speech delay (summary by {1:Rots et al., 2021})." +619598,"The Ain-Naz type of rhizomelic dysplasia (RHZDAN) is characterized by severe short stature with marked rhizomelic shortening of the limbs, platyspondyly, and large hands and feet relative to height ({1:Ain et al., 2021})." +619599,"Autosomal recessive generalized intermediate or severe epidermolysis bullosa simplex 2D (EBS2D) is characterized by widespread intraepidermal skin blistering and erosions from birth (summary by {2:Vahidnezhad et al., 2019}).\n\nFor a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A ({131760})." +619602,"Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies (FARIMPD) is an autosomal recessive syndrome characterized by hypotonia in utero resulting in fetal akinesia with generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency at birth requiring ventilation and significant dysmorphic facial features; seizures may also occur. Brain imaging shows variable malformations of cortical development, most commonly polymicrogyria or other gyral anomalies. Death in infancy usually occurs (summary by {3:Monteiro et al., 2020})." +619603,"Galloway-Mowat syndrome-9 (GAMOS9) is an autosomal recessive disorder characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood. The renal disease is slowly progressive, but some affected individuals may develop end-stage renal disease in the first decade. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or diffuse mesangial sclerosis (DMS). Affected individuals also have developmental delay and secondary microcephaly. Additional features may include facial dysmorphism and gastroesophageal reflux. Early death may occur ({1:Arrondel et al., 2019}).\n\nFor a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300})." +619605,"Developmental and epileptic encephalopathy-98 (DEE98) is characterized by onset of seizures in the first decade (range infancy to late childhood) associated with variable global developmental delay. Other features may include hypotonia, spasticity, and quadriparesis. Brain imaging may be normal or show nonspecific and variable abnormalities, including polymicrogyria. The severity is variable; some patients may die of refractory status epilepticus (summary by {1:Vetro et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +619606,"Developmental and epileptic encephalopathy-99 (DEE99) is characterized by onset of seizures in early childhood associated with global developmental delay and severely impaired intellectual development. Other features may include hypotonia, quadriparesis, nystagmus, and apnea. Brain imaging may be normal or show nonspecific and variable abnormalities, including cerebral atrophy and polymicrogyria. The severity is variable; some patients die of refractory status epilepticus (summary by {1:Vetro et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +619607,"Visceral heterotaxy-10 (HTX10) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see {244400}). Male infertility has been reported ({3:Ta-Shma et al., 2015}; {1:Dougherty et al., 2020}).\n\nFor a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 ({306955})." +619608,"Visceral heterotaxy-11 (HTX11) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see {244400}). Male infertility associated with reduced flagellar motility has been reported ({1:Dougherty et al., 2020}).\n\nFor a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 ({306955})." +619609,"Galloway-Mowat syndrome-10 (GAMOS10) is a severe autosomal recessive disorder characterized by onset of symptoms soon after birth. Affected individuals have progressive renal dysfunction with proteinuria associated with diffuse mesangial sclerosis (DMS) on renal biopsy. Other features include global developmental delay, microcephaly, hypothyroidism, arachnodactyly, and dysmorphic facial features. Some patients may have seizures or abnormalities on brain imaging. All reported patients have died in infancy (summary by {1:Arrondel et al., 2019} and {2:Schmidt et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 ({251300})." +619611,"Interstitial lung disease (ILD) comprises a heterogeneous group of rare diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The manifestations form a spectrum ranging from idiopathic interstitial pneumonia (IIP) or pneumonitis to the more severe idiopathic pulmonary fibrosis (IPF). IPF is associated with an increased risk of developing lung cancer, which occurs in a subset of patients with ILD. Clinical features of ILD include dyspnea, clubbing of the fingers, and restrictive lung capacity. Imaging typically shows ground glass opacities and inter- and intraseptal thickening, while histologic studies usually show a pattern consistent with 'usual interstitial pneumonia' (UIP) (summary by {3:Nathan et al., 2016}, {1:Doubkova et al., 2019}).\n\n<Subhead> Genetic Heterogeneity of Interstitial Lung Disease\n\nSee also ILD2 ({178500}), caused by mutation in the SFTPA2 gene ({178642}) on chromosome 10q22." +619613,"Self-limited delayed puberty (DPSL) is characterized by delayed development of Tanner stage G2 accompanied by low serum gonadotropins. Affected individuals experience spontaneous attainment of Tanner stage G4 by 18 years of age, with normalization of gonadotropins, which excludes a diagnosis of hypogonadotropic hypogonadism (see {147950}) ({1:Mancini et al., 2020})." +619614,"Retinitis pigmentosa-92 (RP92) is characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life. Patients show abnormal pigmentation of the retina and have reduced scotopic responses on electroretinography ({1:Zhang et al., 2018}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of RP, see ({268000})." +619615,"Autosomal recessive deafness-119 (DFNB119) is characterized by nonsyndromic mild to profound sensorineural hearing loss ({1:Richard et al., 2021})." +619616,"Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) is characterized by hearing loss, global developmental delay/impaired intellectual development, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly. Some children present with hypotonia ({1:Richard et al., 2021})." +619621,"Autosomal recessive spastic paraplegia-84 (SPG84) is characterized by onset of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity in the first 2 decades of life. Additional features may include nystagmus, urinary urgency, joint contractures, and possible learning disabilities (summary by {1:Verdura et al., 2021}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +619630,"Immunodeficiency-88 (IMD88) is an autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG; {147570}). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines (summary by {2:Yang et al., 2020} and {3:Yang et al., 2021})." +619632,"Immunodeficiency-89 and autoimmunity (IMD89) is an autosomal recessive immune disorder characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease (see {266600}) ({1:Yang et al., 2020})." +619636,"Acromesomelic dysplasia-4 (AMD4) is characterized by disproportionate short stature due to mesomelic shortening of the limbs. Radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age ({1:Diaz-Gonzalez et al., 2022}).\n\nFor a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 ({602875})." +619637,"Dystonia-32 (DYT32) is an autosomal recessive neurologic disorder characterized by sustained or intermittent muscle contractions causing abnormal movements or posturing. The onset of symptoms is in adulthood, and the disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia. There are no additional neurologic signs or symptoms (summary by {1:Monfrini et al., 2021}).\n\nIn a review of the pathogenesis of disorders with prominent dystonia, {2:Monfrini et al. (2021)} classified DYT32 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS11." +619638,"Spondylometaphyseal dysplasia Pagnamenta type (SMDP) is characterized by short stature and mild platyspondyly with no disproportion between the limbs. Mild metaphyseal changes are present ({1:Pagnamenta et al., 2021})." +619639,"Neurodevelopmental disorder with hypotonia and gross motor and speech delay (NEDHMS) is an autosomal recessive disorder characterized by severe global developmental delay apparent from infancy. Affected individuals have axial hypotonia and limited ability to walk, including some who are nonambulatory with lower limb spasticity, impaired intellectual development, and poor or absent speech and language. Additional more variable features may include seizures, behavioral problems, distal skeletal anomalies, and dysmorphic facial features ({2:Melo et al., 2021})." +619641,"Hengel-Maroofian-Schols syndrome (HEMARS) is an autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay apparent from infancy or early childhood. Affected individuals have delayed walking or inability to walk, impaired intellectual development with poor or absent speech, pyramidal signs manifest as lower limb spasticity, poor overall growth often with short stature and microcephaly, and dysmorphic facial features. Some patients develop seizures. Brain imaging shows thinning of the posterior part of the corpus callosum, delayed myelination, and cerebral and cerebellar atrophy ({1:Hengel et al., 2021})." +619643,"Oocyte maturation defect-11 (OOMD11) is characterized by reduced or absent fertility and poor embryonic outcomes with assisted reproductive technology. Oocytes with multiple sperm heads and multiple pronuclei have been observed after overnight in vitro fertilization ({1:Maddirevula et al., 2022}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of OOMD, see {615774}." +619644,"Immunodeficiency-91 and hyperinflammation (IMD91) is an autosomal recessive complex immunologic disorder characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. Affected individuals present in infancy with variable features, including fever, infection, thrombocytopenia, renal or hepatic dysfunction, recurrent infections, or seizures. Most patients eventually develop hepatic or renal failure, compromised neurologic function, lymphadenopathy or hepatosplenomegaly, and multiorgan failure resulting in death. More variable features may include intermittent monocytosis, features of hemophagocytic lymphohistiocytosis (HLH), and serologic evidence of hyperinflammation. The disorder is thought to result from dysregulation of the interferon response to viral stimulation in the innate immune system (summary by {1:Le Voyer et al., 2021}; {2:Vavassori et al., 2021})." +619645,"Spermatogenic failure-59 (SPGF59) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest ({1:Salas-Huetos et al., 2021}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619646,"Spermatogenic failure-60 (SPGF60) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest before the pachytene stage ({1:Krausz et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619647,"Autosomal recessive dyskinesia with orofacial involvement (DSKOR) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder (summary by {2:Bohlega et al., 2019})." +619648,"Zaki syndrome (ZKS) is characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate. Other variable features have been observed, including ocular, skeletal, cardiac, and renal anomalies ({1:Chai et al., 2021})." +619649,"Chromosome 16q12 duplication syndrome is characterized by early-onset progressive cone dystrophy, with early blue cone involvement. Patients report reduced visual acuity in the first decade of life, as well as difficulty differentiating colors, photophobia, and reduced night vision ({2:Kohl et al., 2021}).\n\nTritanopia can also be caused by heterozygous mutation in the OPN1SW gene ({613522}) on chromosome 7q32 (see {190900})." +619651,"Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders (summary by {2:Okamoto et al., 2021} and {1:Kaiyrzhanov et al., 2021})." +619652,"Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative (summary by {1:Beaussant-Cohen et al., 2019} and {2:Levy et al., 2021})." +619653,"Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus (NEDSTO) is an autosomal recessive complex neurologic disorder characterized by delay of gross motor milestones, particularly walking, associated with axial hypotonia and peripheral spasticity apparent from infancy or early childhood. Affected individuals often show transient opisthotonic posturing in infancy, and later show abnormal involuntary movements, including chorea, dystonia, and dyspraxia. Some patients have impaired intellectual development, although the severity is highly variable; most have speech delay and articulation difficulties and a happy overall demeanor. Brain imaging shows myelination defects in some patients. The disorder is nonprogressive, and many patients may catch up developmentally in the second or third decades (summary by {4:Wagner et al., 2020})." +619656,"Loeys-Dietz syndrome-6 (LDS6) is characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings. Most patients have thoracic aortic aneurysm involving the ascending aorta and/or aortic root, but cerebral and iliac arteries can be affected, and abdominal aortic aneurysm has been observed. Arterial tortuosity involving cerebral vessels, the aorta, and/or iliac arteries has also been reported ({2:Granadillo et al., 2018}; {1:Cannaerts et al., 2019}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of LDS, see LDS1 ({609192})." +619657,"Multiple types of congenital heart defects-8 (CHTD8) is characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation ({2:Zaidi et al., 2013}; {1:Granadillo et al., 2018})." +619658,"Progressive intrahepatic cholestasis-7 with or without hearing loss (PFIC7) is an autosomal recessive liver disorder characterized by infantile-onset jaundice and itching associated with cholestasis, elevated alanine aminotransferase (ALT) and aspartate aminotransferase (AST), and normal gamma glutamyltransferase (GGT). Liver biopsy shows hepatocellular and canalicular cholestasis with fibrotic changes. Many patients have resolution of the liver abnormalities with age, although some may have persistent liver enzyme abnormalities or splenomegaly. A subset of patients develops hearing loss in childhood between early infancy and the teenage years. Rifampicin may be effective for pruritis (summary by {4:Maddirevula et al., 2019}).\n\nFor a discussion of genetic heterogeneity of PFIC, see PFIC1 ({211600})." +619661,"Hereditary diffuse leukoencephalopathy with spheroids-2 (HDLS2) is an autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Symptom onset is usually in adulthood, although earlier onset has been reported. Some patients have an acute encephalopathic course with severe neurologic decline resulting in early death, whereas other patients have a more protracted and chronic disease course. Neuropathologic examination shows a leukoencephalopathy with axonal spheroids and myelination defects (summary by {3:Sundal et al., 2012}).\n\nFor a discussion of genetic heterogeneity of HDLS, see HDLS1 ({221820})." +619662,"Progressive familial intrahepatic cholestasis-8 (PFIC8) is an autosomal recessive disorder characterized by cholestasis and high gamma-glutamyltransferase presenting in the infantile period (summary by {3:Unlusoy Aksu et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 ({211600})." +619665,"Ovarian dysgenesis-9 (ODG9) is characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age. Patient cells show evidence of chromosomal instability ({2:Smirin-Yosef et al., 2017}; {1:Heddar et al., 2022}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 ({233300})." +619672,"Spermatogenic failure-61 (SPGF61) is characterized by male infertility due to nonobstructive azoospermia, resulting from complete meiotic arrest at the primary spermatocyte stage ({3:Riera-Escamilla et al., 2019};{4:van der Bijl et al., 2019}).\n\nMutation in the STAG3 gene also causes premature ovarian failure (POF8; {615723}), resulting in female infertility.\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SGPF1 ({258150})." +619673,"Spermatogenic failure-62 (SPGF62) is characterized by male infertility due to nonobstructive azoospermia, resulting from complete metaphase arrest at the spermatocyte stage ({2:Riera-Escamilla et al., 2019}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619680,"Marbach-Schaaf neurodevelopmental syndrom (MASNS) is characterized by global developmental delay with speech delay and behavioral abnormalities, including autism spectrum disorder and ADHD. Affected individuals also show movement disorders, such as dyspraxia and apraxia. More variable features include high pain tolerance, sleep disturbances, and variable nonspecific dysmorphic features (summary by {1:Marbach et al., 2021})." +619681,"Early-onset dystonia and/or spastic paraplegia (DYTSPG) is an autosomal dominant movement disorder characterized by phenotypic variability, even within the same family. Some patients have onset of progressive focal and generalized dystonia in the first decade, as young as infancy, whereas others develop progressive spastic paraplegia as adults, suggesting that age affects the phenotype. Some patients have manifestations of both disorders. Although most patients have ambulation difficulties, cognition is not affected (summary by {1:Gilbert et al., 2009})." +619685,"Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis (NEDMSC) is an autosomal recessive disorder characterized by severely impaired global development apparent from infancy, progressive microcephaly, and neonatal cholestasis manifest as jaundice and elevated liver enzymes. The liver disease resolves, but affected individuals show feeding difficulties, failure to thrive, hypotonia, seizures, hyperkinetic movements, irritability, and poor eye contact or vision, and achieve almost no motor or cognitive developmental milestones. Brain imaging demonstrates agenesis or hypoplasia of the corpus callosum. Death in early childhood may occur (summary by {1:Schneeberger et al., 2021})." +619686,"Autosomal recessive spastic paraplegia-85 (SPG85) is a neurologic disorder characterized by the onset of motor symptoms in the first few years of life. Affected individuals have spasticity and hyperreflexia of the lower limbs resulting in gait abnormalities. Older patients may have upper limb involvement and demonstrate axonal polyneuropathy. Additional features include optic atrophy, dysarthria, dysphagia, ataxia, and urinary incontinence. Brain imaging may show cerebellar atrophy (summary by {2:Wagner et al., 2019}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +619687,"Dystonia-33 (DYT33) is a neurologic disorder characterized by onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence). The disorder is slowly progressive and may result in ambulation difficulties, dysarthria, or dysphagia. There is variable expressivity even with a family, as well as incomplete penetrance of the phenotype. Most mutations are in the heterozygous state, but a homozygous mutation with autosomal recessive inheritance has been reported, indicating variable patterns of transmission of DYT33. Some patients may have a more complex neurologic disorder with motor delay, lower limb spasticity, mild developmental delay with cognitive impairments, and nonspecific brain imaging abnormalities. There may be an exacerbation of the symptoms coinciding with viral infection or stress. Deep brain stimulation (DBS) may be therapeutic (summary by {1:Kuipers et al., 2021})." +619688,"Hypomyelinating leukodystrophy-23 with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy (HLD23) is an autosomal recessive neurodegenerative disorder with systemic manifestations. Affected individuals show delayed motor development and ataxic gait in early childhood that progresses to spastic paraplegia with loss of ambulation in the first decades of life. Additional features include progressive sensorineural hearing loss resulting in deafness, hepatic dysfunction with elevated liver enzymes, and dilated cardiomyopathy that ultimately results in death in the first or second decades. Brain imaging shows hypomyelination, diffuse white matter abnormalities consistent with leukodystrophy, and thin corpus callosum (summary by {2:Sferra et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}." +619689,"Spermatogenic failure-63 (SPGF63) is characterized by male infertility due to severe oligozoospermia with markedly reduced progressive motility ({1:Tu et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619690,"Brunet-Wagner neurodevelopmental syndrome (BRUWAG) is an autosomal recessive disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills. Affected individuals either do not achieve independent ambulation or walk with an unsteady gait; those who walk may lose the ability due to spasticity of the lower limbs. They have absent language, poor or absent social skills, and behavioral abnormalities. Most have variable ocular findings, including nystagmus, strabismus, optic atrophy, myopia, or hypermetropia (summary by {1:Brunet et al., 2020} and {2:Samra et al., 2021})." +619691,"Nonphotosensitive trichothiodystrophy-8 (TTD8) is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Hair analysis shows low sulfur content, and skin fibroblasts demonstrate normal DNA repair efficiency after UV irradiation ({1:Botta et al., 2021}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 ({601675})." +619692,"Nonphotosensitive trichothiodystrophy-9 (TTD9) is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Hair analysis shows low sulfur content, and skin fibroblasts demonstrate normal DNA repair efficiency after UV irradiation ({1:Botta et al., 2021}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 ({601675})." +619693,"Agammaglobulinemia-9 (AGM9) is an autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy (summary by {1:Anzilotti et al., 2019}).\n\nFor a discussion of genetic heterogeneity of autosomal agammaglobulinemia, see AGM1 ({601495})." +619694,"Developmental delay with variable neurologic and brain abnormalities (DENBA) is characterized most often by motor and speech delay apparent from early childhood. Most patients have delayed walking and variably impaired intellectual development. Additional neurologic features may include seizures, spasticity, and ocular abnormalities. Brain imaging often shows thin corpus callosum and may show white matter atrophy, myelination abnormalities, or enlarged ventricles. The severity of the disorder and clinical manifestations are highly variable (summary by {1:Malhotra et al., 2021})." +619695,"Rauch-Steindl syndrome (RAUST) is characterized by poor pre- and postnatal growth, sometimes with short stature and small head circumference, characteristic dysmorphic facial features, and variable developmental delay with delayed motor and speech acquisition and impaired intellectual function that can be mild. Other features may include hypotonia and behavioral abnormalities. The phenotype represents a mild form of Wolf-Hirschhorn syndrome (WHS; {194190}), which is a contiguous gene deletion syndrome caused by heterozygous deletion of several genes on chromosome 4p16. The clinical features of RAUST are similar to but milder than those of WHS, with less severe dysmorphic facial features, less severe developmental disabilities in general, and absence of a seizure disorder. The phenotype and expressivity of RAUST is highly variable (summary by {7:Rauch et al., 2001}; {8:Zanoni et al., 2021})." +619696,"Spermatogenic failure-64 (SPGF64) is characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia. Some patients have absent sperm due to meiotic arrest at the diplotene stage, whereas others show low sperm counts and reduced progressive motility, and spermatozoa have enlarged amorphous heads ({1:Ma et al., 2019}; {3:Wu et al., 2022}).\n\nMutation in the FBXO43 gene can also cause female infertility due to early embryonic arrest (see OOMD12, {619697}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619697,"Oocyte maturation defect-12 (OOMD12) is characterized by female infertility due to early embryonic arrest ({1:Wang et al., 2021}).\n\nMutation in the FBXO43 gene can also cause male infertility due to spermatogenic failure (see SPGF64, {619696}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of OOMD, see OOMD1 ({615774})." +619698,"Mucopolysaccharidosis type X (MPS10) is an autosomal recessive childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities ({1:Verheyen et al., 2021})." +619699,"Ferguson-Bonni neurodevelopmental syndrome (FERBON) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay. Additional features may include dysmorphic facies, mild skeletal abnormalities, and hearing loss (summary by {1:Ferguson et al., 2022})." +619701,"Yoon-Bellen neurodevelopmental syndrome (YOBELN) is an autosomal recessive disorder characterized mainly by global developmental delay with variably impaired intellectual development. The manifestations and severity of the phenotype are highly variable. Additional neurologic features may include hypotonia, spasticity, ataxia, hearing loss, visual problems, seizures, and nonspecific anomalies on brain imaging (summary by {1:Yap et al., 2021})." +619702,"Visceral heterotaxy-12 (HTX12) is an embryonic developmental disorder characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. The phenotype is highly variable, ranging from complete organ reversal (situs inversus totalis) to selective misarrangement of organs (situs ambiguus) such as the liver, spleen, and pancreas. The disorder is often associated with dextrocardia or variable complex congenital heart defects. Early death may occur in the most severe cases (summary by {1:Szenker-Ravi et al., 2022}).\n\nFor a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 ({306955})." +619705,"Immunodeficiency-93 and hypertrophic cardiomyopathy (IMD93) is an autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects (summary by {1:Niehues et al., 2020} and {2:Saettini et al., 2021})." +619707,"Autosomal dominant agammaglobulinemia-10 (AGM10) is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported (summary by {1:Le Coz et al., 2021}).\n\nFor a discussion of genetic heterogeneity of autosomal agammaglobulinemia, see AGM1 ({601495})." +619708,"Gastrointestinal defects and immunodeficiency syndrome-2 (GIDID2) is a severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency (summary by {1:Salter et al., 2021}).\n\nFor a discussion of genetic heterogeneity of GIDID, see GIDID1 ({243150})." +619712,"Spermatogenic failure-65 (SPGF65) is characterized by male infertility due to asthenoteratozoospermia. Progressive sperm motility is severely reduced or absent, and patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including coiled, irregular-caliber, short, and absent flagella. Abnormalities of the flagellar midpiece are also present ({1:Tan et al., 2022}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of SPGF, see SPGF1 ({258150})." +619714,"Autosomal dominant congenital disorder of glycosylation type Iw (CDG1WAD) is characterized by variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features; about half of patients have impaired intellectual development. Additional features include increased muscle tone and muscle cramps ({1:Wilson et al., 2021})." +619717,"Autosomal recessive intellectual developmental disorder-73 (MRT73) is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features (summary by {1:Morrison et al., 2021})." +619718,"HH26 is characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Some affected individuals also exhibit craniosynostosis ({1:Davis et al., 2020}).\n\nCongenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {3:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'\n\nFor a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}." +619719,"Intellectual disability and myopathy syndrome (IDMYS) is an autosomal recessive developmental disorder characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and white matter abnormalities on brain imaging. Variable additional features may include sensorineural hearing loss, dysmorphic facies, and progressive heart disease (summary by {1:Smeland et al., 2019})." +619720,"Bryant-Li-Bhoj neurodevelopmental syndrome-1 (BRYLIB1) is a highly variable phenotype characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones. Most patients have hypotonia, although some have peripheral hypertonia. Common features include abnormal head shape, variable dysmorphic facial features, oculomotor abnormalities, feeding problems, and nonspecific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects (summary by {1:Bryant et al., 2020}).\n\n<Subhead> Genetic Heterogeneity of Bryant-Li-Bhoj Neurodevelopmental Syndrome\n\nSee also BRYLIB2 ({619721}), caused by heterozygous mutation in the H3F3B gene ({601058})." +619721,"Bryant-Li-Bhoj neurodevelopmental syndrome-2 (BRYLIB2) is a highly variable phenotype characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones. Most patients have hypotonia, although some have peripheral hypertonia. Common features include variable dysmorphic facial features, oculomotor abnormalities, feeding problems, and nonspecific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects (summary by {1:Bryant et al., 2020}).\n\nFor a discussion of genetic heterogeneity of Bryant-Li-Bhoj neurodevelopmental syndrome, see BRYLIB1 ({619720})." +619724,"Myoclonic dystonia-34 (DYT34) is an autosomal dominant neurologic disorder characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus ({1:Balint et al., 2020})." +619725,"Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) is an autosomal dominant disorder characterized by mildly to severely impaired intellectual development and, in some patients, movement abnormalities consisting of tremors, cerebellar ataxia, or extrapyramidal symptoms. Movement abnormalities have onset in childhood or adolescence. Other variable features include autism spectrum disorder or autistic features and epilepsy." +619727,"Craniotubular dysplasia, Ikegawa type (CTDI) is characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Affected individuals experience progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade of life ({1:Guo et al., 2021})." +619733,"Inclusion body myopathy and brain white matter abnormalities (IBMWMA) is an autosomal dominant adult-onset disorder characterized predominantly by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging. Additional features may include dysarthria, dysphagia, low back pain, and hyporeflexia. EMG is consistent with a myopathic process, although neuropathic findings have also been shown. Muscle biopsy shows fiber type variation, internal nuclei, rimmed vacuoles, and cytoplasmic protein aggregates or inclusions. Serum creatine kinase is usually elevated. Cognitive impairment or frontotemporal dementia occurs in some patients. The disorder is slowly progressive; some patients become wheelchair-bound after many years. Rare patients with this mutation develop ALS; some have both myopathy and ALS. Brain imaging shows white matter abnormalities using diffusion tensor imaging. The disorder is classified as multisystem proteinopathy-6 (MSP6) due to the characteristic disease mechanism of protein misfolding and abnormal tissue deposition (summary by {1:Leoni et al., 2021})." +619735,"Autosomal recessive spastic paraplegia-86 (SPG86) is a complex neurologic disorder characterized by global developmental delay apparent from early childhood combined with early-onset progressive spasticity mainly affecting the lower limbs, but also affecting the upper limbs. Affected individuals have hyperreflexia, extensor plantar responses, pyramidal signs, and difficulty walking or inability to walk. Some may have joint contractures and foot or ankle deformities. Patients with SPG86 have impaired intellectual development with poor or absent speech, often with behavioral abnormalities. Brain imaging shows thin corpus callosum and white matter abnormalities. Rare patients may have seizures. The disorder is thus a complicated form of SPG (summary by {3:Yahia et al., 2021}, {2:Miyake et al., 2022}).\n\nFor a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800})." +619736,"Teebi hypertelorism syndrome-2 (TBHS2) is characterized primarily by hypertelorism, prominent forehead, thick and broad eyebrows, and short nose with depressed nasal root and broad nasal tip. Other features include thin upper lip, small chin with horizontal crease, and high or cleft palate. Developmental delay and/or impaired intellectual development have been observed in some patients ({1:Li et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of Teebi hypertelorism syndrome, see TBHS1 ({145420})." +619737,"Combined oxidative phosphorylation deficiency-54 (COXPD54) is an autosomal recessive disorder with pleiotropic multisystem presentations resulting from a disruption in mitochondrial transcription and translation. The phenotype is highly variable. Many patients have early-onset sensorineural hearing loss, sometimes in isolation, and sometimes associated with global developmental delay or primary ovarian failure. Other features may include peripheral hypertonia, seizures, muscle weakness, behavioral abnormalities, and leukoencephalopathy on brain imaging. Serum lactate may or may not be elevated (summary by {1:Hochberg et al., 2021}).\n\nFor a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 ({609060})." +619738,"Childhood-onset parkinsonism-dystonia-3 (PKDYS3) is an autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances (summary by {1:Burke et al., 2018} and {3:Skorvanek et al., 2022}).\n\nFor a discussion of genetic heterogeneity of PKDYS, see {613135}." +619742,"Demyelinating Charcot-Marie-Tooth disease type 1I (CMT1I) is a neurologic disorder characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. The disorder is progressive, and some may have upper limb involvement. A subset of patients has central nervous system involvement that manifests as global developmental delay with impaired intellectual development and speech difficulties. Other features may include spasticity, hyperreflexia, tremor, dysmetria, seizures, or cerebellar findings. Brain imaging may be normal or show nonspecific abnormalities, such as white matter signal changes and delayed myelination (summary by {1:Djordjevic et al., 2021}).\n\nFor a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B ({118200})." +619743,"Combined oxidative phosphorylation deficiency-55 (COXPD55) is characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia phenotype has been described in 1 patient (summary by {2:Olahova et al., 2021})." +619745,"Noonan syndrome-14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. Patients exhibit developmental delay, impaired intellectual development, and short stature, as well as distinctive dysmorphic features including bitemporal narrowing, hypertelorism, low-set posteriorly rotated ears, prominent nasal bridge, low posterior hairline with a short webbed neck, and pectus excavatum ({1:Motta et al., 2021}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Noonan syndrome, see NS1 ({163950})." +619747,"Dilated cardiomyopathy-2F (CMD2F) is an autosomal recessive early-onset cardiomyopathy associated with refractory ventricular arrhythmias and severe heart failure requiring placement of a left ventricular assist device ({1:Hakui et al., 2022}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of dilated cardiomyopathy, see {115200}." +619750,"Immunodeficiency-94 with autoinflammation and dysmorphic facies (IMD94) is a systemic immunologic disorder with onset in early infancy. Primary features include lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. Intellectual development is normal and serum IgE is not elevated. The disease results from constitutive activation of the IL6 signaling cascade, resulting in immune dysregulation and a hyperinflammatory state (summary by {1:Materna-Kiryluk et al., 2021})." +619751,"Stuve-Wiedemann syndrome-2 (STWS2) is an autosomal recessive lethal skeletal dysplasia characterized by short stature, small chest, bowing of the long bones, and neonatal cardiopulmonary and autonomous dysfunction. Additional variable features include congenital thrombocytopenia, eczematoid dermatitis, renal anomalies, and defective acute-phase response ({1:Chen et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Stuve-Wiedemann syndrome, see STWS1 ({601559})." +619752,"Autosomal dominant hyper-IgE recurrent infection syndrome-4A (HIES4A) is an immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 ({147620}) and IL11 ({147681}) signaling (summary by {1:Beziat et al., 2020}).\n\nFor a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see HIES1 ({147060})." +619755,"Hypogonadotropic hypogonadism-27 without anosmia (HH27) is characterized by lack of pubertal development associated with onset of obesity in early adolescence ({2:Topaloglu et al., 2022}).\n\nCongenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; {152760}) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by {1:Raivio et al., 2007}). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'" +619758,"Tessadori-van Haaften neurodevelopmental syndrome-1 (TEVANED1) is characterized by poor overall growth with short stature, microcephaly, hypotonia, profound global developmental delay often with poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose. Other variable neurologic and systemic features may also occur ({1:Tessadori et al., 2017}).\n\n<Subhead> Genetic Heterogeneity of Tessadori-van Haafetn Neurodevelopmental Syndrome\n\nSee also TEVANED2 ({619759}), caused by mutation in the H4C11 gene ({602826}) on chromosome 6p22." +619759,"Tessadori-van Haaften neurodevelopmental syndrome-2 (TEVANED2) is characterized by poor overall growth, profound global developmental delay with absent speech, and characteristic dysmorphic facial features, including hypertelorism, abnormal nose, and wide mouth ({1:Tessadori et al., 2020}).\n\nFor a discussion of genetic heterogeneity of TEVANED, see TEVANED1 ({619758})." +619761,"Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism (CDIDHH) is characterized by delayed motor development, ataxia, severe progressive scoliosis, moderate to severe intellectual disability, and delayed sexual development. Cerebellar hypoplasia has been observed in some patients ({1:Whittaker et al., 2021})." +619762,"Kury-Isidor syndrome (KURIS) is a neurodevelopmental disorder with a highly variable phenotype. It is characterized mainly by mild global developmental delay apparent from infancy or early childhood with walking delayed by a few years and speech delay, often with language deficits. Intellectual development may be mildly delayed, borderline, or even normal; most patients have behavioral problems, including autism. Additional variable systemic features may include poor overall growth, hypotonia, distal skeletal anomalies, seizures, and nonspecific dysmorphic facial features (summary by {1:Kury et al., 2022})." +619764,"Demyelinating Charcot-Marie-Tooth disease-1H (CMT1H) is an autosomal dominant peripheral sensorimotor neuropathy with onset usually in adulthood (third to fifth decades). Affected individuals present with foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Of note, many patients complain of unpleasant sensory sensations in the upper extremities and hands. The disorder is slowly progressive and becomes more apparent with age, although patients usually remain ambulatory. Other features include hypo- or areflexia, limb muscle weakness, and impaired gait. Electrophysiologic studies are consistent with a demyelinating polyneuropathy. Rare patients may have hyperelastic skin or develop age-related macular degeneration (summary by {1:Auer-Grumbach et al., 2011} and {4:Safka Brozkova et al., 2020})\n\nFor a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B ({118200})." +619767,"Telomere-related pulmonary fibrosis and/or bone marrow failure-6 (PFBMFT6) is characterized by highly variable symptoms mainly affecting the hematopoietic or pulmonary systems. The age of symptom onset is also highly variable, ranging from infancy to adulthood. Some affected individuals develop early-onset pancytopenia or myelodysplasia, whereas others manifest late-onset pulmonary fibrosis. Skin, nail, or hair features resembling dyskeratosis congenita (DKC; see, e.g., DKCA1, {127550}) may also be observed. Both PFBMFT6 and DKCA are associated with shortened telomeres, thus sharing a pathogenetic mechanism (summary by {1:Sharma et al., 2022}).\n\nFor a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure, see PFBMFT1 ({614742})." +619769,"Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MNDLFH) is characterized by clinically significant pharyngeal lymphoid hypertrophy, with adenoid overgrowth, frequent upper airway infections, and sleep apnea. Macrocephaly without structural brain abnormalities is present, and patients exhibit increased weight for height as well as delayed gross motor and impaired intellectual development; autistic features and attention-deficit hyperactivity disorder have also been reported. An increased fraction of fetal hemoglobin has been observed in some patients ({1:Ohishi et al., 2020}; {2:von der Lippe et al., 2022})." +619773,"Immunodeficiency-95 (IMD95) is an autosomal recessive disorder characterized predominantly by the onset of recurrent and severe viral respiratory infections in infancy or early childhood. Affected individuals often require hospitalization or respiratory support for these infections, which include human rhinovirus (HRV) and RSV. Immunologic workup is usually normal, although some mild abnormalities may be observed. The disorder results from a loss of ability of the innate immune system to sense viral genetic information, which causes a lack of interferon (IFN) production, poor response to viral and immunologic stimulation, and failure to control viral replication (summary by {4:Lamborn et al., 2017}, {1:Asgari et al., 2017}, {2:Cananzi et al., 2021})." +619774,"Immunodeficiency-96 (IMD96) is an autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair (summary by {4:Maffucci et al., 2018})." +619775,"Congenital disorder of deglycosylation-2 (CDDG2) is an autosomal recessive disorder with variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis ({1:Maia et al., 2022}).\n\nFor a discussion of genetic heterogeneity of congenital disorder of deglycosylation, see CDGG1 ({615273})." +619777,"Developmental and epileptic encephalopathy-100 (DEE100) is a severe neurologic disorder characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. Most patients have refractory seizures and show developmental regression after seizure onset. Affected individuals have ataxic gait or inability to walk and severe to profoundly impaired intellectual development, often with absent speech. Additional more variable features may include axial hypotonia, hyperkinetic movements, dysmorphic facial features, and brain imaging abnormalities (summary by {2:Schneider et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +619780,"Mitochondrial DNA depletion syndrome-20 (MTDPS20) is an autosomal recessive multisystem disorder with variable manifestations and severity. Most patients develop symptoms in childhood, although the onset can range from infancy to the teenage years. Prominent features include severe gastrointestinal dysmotility often requiring parenteral nutrition, neurogenic bladder, and muscle weakness and atrophy. Neurologic involvement manifests as headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline. Brain imaging usually shows diffuse leukoencephalopathy and may show cerebellar atrophy. The disorder results from a defect in the maintenance and repair of mitochondrial DNA, resulting in mtDNA depletion and impaired mitochondrial function (summary by {1:Bonora et al., 2021}).\n\nFor a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 ({603041})." +619781,"Myopia-28 (MYP28) is characterized by early-onset high myopia in the first decade of life. Retinal detachment may occur, and early-onset cataract has been reported ({1:Li et al., 2016}; {2:Maddirevula et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of myopia, see MYP2 ({160700})." +619787,"Intermediate junctional epidermolysis bullosa-4 (JEB4) is an autosomal recessive, nonlethal skin disorder characterized by blistering and erosions at birth or shortly afterward. The plane of cleavage of blistering is through the lamina lucida of the cutaneous basement zone. Blisters may heal with atrophic scarring and variable hypo- or hyperpigmentation. Oral mucosa may be involved. Nails may be lost or dystrophic, and dental enamel defects are present (summary by {8:Has et al., 2020}). A previous designation, GABEB (generalized atrophic benign epidermolysis bullosa), was used to classify patients whose phenotype included alopecia; see NOMENCLATURE.\n\nFor a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A ({226650})." +619790,"Oculopharyngodistal myopathy-4 (OPDM4) is an autosomal dominant neuromuscular disorder characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs. Initial symptoms of the disorder, ptosis and limited eye movements, most commonly appear in the second or third decades. There is slow progression with development of dysarthria, dysphagia, and distal limb weakness and atrophy associated with absent deep tendon reflexes; sensation is normal. Serum creatine kinase is often increased, and skeletal muscle biopsy typically shows chronic myopathic changes with rimmed vacuoles and filamentous intranuclear inclusions (summary by {1:Yu et al., 2022}).\n\nFor a discussion of genetic heterogeneity of OPDM, see OPDM1 ({164310})." +619793,"Restrictive dermopathy is a rare genodermatosis characterized mainly by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures, and an early neonatal lethal course. Liveborn children usually die within the first week of life (summary by {1:Navarro et al., 2004}).\n\nFor a discussion of genetic heterogeneity of restrictive dermopathy, see RSDM1 ({275210})." +619795,"Osteogenesis imperfecta comprises a group of connective tissue disorders characterized clinically by bone fragility, low bone mass, and increased susceptibility to fractures. Osteogenesis imperfecta type XXII (OI22) is a severe recessive form of the disease ({2:Dubail et al., 2020})." +619797,"Neurodevelopmental disorder with central hypotonia and dysmorphic facies (NEDCHF) is an autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, seizures, distinctive facial features, scoliosis, delayed closure of the anterior fontanel, and nonspecific brain abnormalities ({1:Wakeling et al., 2021})." +619799,"Spermatogenic failure-66 (SPGF66) is characterized by male infertility due to all sperm being round-headed (globozoospermia) and lacking the acrosome ({2:Oud et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619802,"Immunodeficiency-97 with autoinflammation (IMD97) is an autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH; see FHL1, {267700}). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported (summary by {1:Takeda et al., 2019} and {2:Thian et al., 2020})." +619803,"Spermatogenic failure-67 (SPGF67) is characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome ({2:Oud et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619804,"Autosomal dominant deafness-82 (DFNA82) is characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade, although later onset may rarely occur. Affected individuals often pass the newborn screening test before the onset of mild to profound hearing loss ({3:Smits et al., 2019})." +619805,"Spermatogenic failure-68 (SPGF68) is characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome ({2:Oud et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619806,"Spinocerebellar ataxia-49 (SCA49) is an autosomal dominant neurologic disorder characterized initially by gait abnormalities, gaze-evoked nystagmus, and hyperreflexia. The age at onset is highly variable, ranging from the second to seventh decades, even within the same family. The disorder is slowly progressive, and later features may include dysarthria, dysmetria, diplopia, pyramidal signs, and axonal peripheral neuropathy. Brain imaging shows cerebellar atrophy and myelination defects ({1:Corral-Juan et al., 2022})." +619808,"Autosomal dominant deafness-83 (DFNA83) is characterized by the onset of progressive sensorineural hearing loss at an average age of 24 years. A notable finding is a normal distortion product otoacoustic emissions (DPOAE) test, implicating dysfunction of spiral ganglia neurons rather than outer hair cells as a disease mechanism ({1:Cui et al., 2020})." +619810,"Autosomal dominant deafness-84 (DFNA84) is characterized by slowly progressive nonsyndromic sensorineural hearing loss. Onset is usually in the postlingual period, during the first or second decades, although both congenital and later onset has been reported. There is intrafamilial variation in disease severity, audiogram shape, and progression (summary by {1:Pater et al., 2022})." +619813,"Autosomal dominant severe congenital neutropenia-9 (SCN9) is characterized by onset of neutropenia in the first years of life. Most patients have recurrent infections; bone marrow examination shows a myeloid maturation arrest. Rare patients may exhibit additional features such as seizures, learning difficulties, or cataracts, which are more commonly observed in patients with MGCA7 ({616271}). However, patients with SCN9 do not have 3-methylglutaconic aciduria, and most have normal neurologic function ({1:Warren et al., 2022}).\n\nFor a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 ({202700})." +619814,"Developmental and epileptic encephalopathy-101 (DEE101) is a severe autosomal recessive disorder characterized by early infantile epileptic encephalopathy and severe global developmental delay (summary by {1:Blakes et al., 2022}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +619824,"Autosomal recessive agammaglobulinemia-8B (AGM8B) is characterized by onset of recurrent infections in early childhood. Laboratory studies of affected individuals show decreased circulating immunoglobulins and decreased peripheral B cells. More variable features may include dysmorphic facies and subtle abnormalities of other immune cells, such as T cells. One patient who developed childhood B-cell acute lymphocytic leukemia (B-ALL) has been described (summary by {2:Ben-Ali et al., 2017})." +619826,"Spermatogenic failure-69 (SPGF69) is characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome ({2:Oud et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619827,"Autosomal recessive intellectual developmental disorder-75 with neuropsychiatric features and variant lissencephaly (MRT75) is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development. Most affected individuals have behavioral abnormalities, including aggression and ADHD; a few have psychiatric manifestations, including psychosis. More variable additional features include well-controlled seizures and dysmorphic facial features. Brain imaging often shows frontal predominant pachygyria or other gyri/sulci abnormalities, consistent with a variant of lissencephaly and a malformation of cortical development (MCD) (summary by {4:Zaki et al., 2021})." +619828,"Spermatogenic failure-70 (SPGF70) is characterized by male infertility due to azoospermia or sperm immotility and necrozoospermia ({2:Yildirim et al., 2018}). Hypospermatogenesis and meiotic arrest have also been observed ({1:Kherraf et al., 2022}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619831,"Spermatogenic failure-71 (SPGF71) is characterized by male infertility due to nonobstructive azoospermia ({1:Alhathal et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619832,"Autosomal dominant auditory neuropathy-3 (AUNA3) is characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound ({1:Jang et al., 2021}).\n\nFor a discussion of genetic heterogeneity of autosomal dominant auditory neuropathy, see AUNA1 ({609129})." +619833,"Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood. The severity of the disorder is highly variable. Affected individuals show impaired intellectual development and motor delay associated with either severe hypotonia or hypertonia and spasticity. Most affected individuals have skeletal defects and dysmorphic facial features. Some may have ocular or auditory problems, peripheral neuropathy, behavioral abnormalities, and nonspecific findings on brain imaging ({1:Kurolap et al., 2022})." +619834,"Ovarian dysgenesis-10 (ODG10) is characterized by primary amenorrhea and absent puberty. The uterus is small and prepubertal, and ovaries are streak or not visualized on ultrasound ({1:McGlacken-Byrne et al., 2022}).\n\nMutation in the ZSWIM7 gene also causes male infertility due to spermatogenic failure (SPGF71; {619831}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 ({233300})." +619835,"3-Methylglutaconic aciduria (MGCA7) is an inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia. The phenotype is highly variable: most patients have infantile onset of a severe progressive encephalopathy with various movement abnormalities and delayed psychomotor development. Other common variable features include seizures, recurrent infections due to neutropenia, anemia, and brain imaging abnormalities ({1:Wortmann et al., 2021}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 ({250950})." +619836,"Intermediate primary alphalipoproteinemia-2 is an autosomal dominant condition characterized by half-normal plasma levels of apoA-I and HDL-C ({12:Yamakawa-Kobayashi et al., 1999}). Affected individuals may develop xanthomas and corneal opacities, but most do not have increased cardiovascular risk (summary by {7:Rader and deGoma, 2012}).\n\nFor a discussion of genetic heterogeneity of hypoalphalipoproteinemia, see {604091}." +619840,"Autosomal dominant isolated macrothrombocytopenia-2 (MACTHC2) is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Affected individuals do not have increased bleeding episodes; macrothrombocytopenia is usually an incidental laboratory finding ({1:Kimmerlin et al., 2022})\n\nFor a discussion of genetic heterogeneity of MACTHC, see MACTHC1 ({613112})." +619841,"Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay. Most patients have behavioral abnormalities, including autism spectrum disorder, ADHD, and aggression. About half of patients have dysmorphic facial features, and about half have nonspecific brain abnormalities, including thin corpus callosum. Rare involvement of other organ systems may be present. At least 1 child with normal development at age 2.5 years has been reported ({1:Chilton et al., 2020})." +619844,"Intellectual developmental disorder with or without peripheral neuropathy (IDDPN) is an autosomal recessive neurologic disorder characterized by global developmental delay with mildly impaired intellectual development apparent from infancy or early childhood. Affected individuals have hypotonia and delayed walking with an unsteady gait and frequent falls. Some patients develop a progressive length-dependent sensorimotor peripheral neuropathy. Additional features may include dysarthria and subtle dysmorphic facial features ({2:Diaz et al., 2020})." +619845,"Retinitis pigmentosa-93 (RP93) is characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia ({1:Mejecase et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}." +619846,"Immunodeficiency-99 with hypogammaglobulinemia and autoimmune cytopenias (IMD99) is an autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment ({1:Kuhny et al., 2020})." +619847,"Childhood-onset neurodegeneration with progressive microcephaly (CONPM) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from infancy. The phenotype is highly variable: the most severely affected individuals have severe and progressive microcephaly, early-onset seizures, lack of visual tracking, and almost no developmental milestones, resulting in early death. Less severely affected individuals have a small head circumference and severely impaired intellectual development with poor speech and motor delay. Additional features may include poor overall growth, axial hypotonia, limb hypertonia with spasticity, undescended testes, and cerebral atrophy with neuronal loss ({1:Lam et al., 2019} and {2:Vanoevelen et al., 2022})." +619849,"Progressive familial intrahepatic cholestasis-9 (PFIC9) is an autosomal recessive disorder characterized by onset of cholestasis associated with increased serum gamma-glutamyltransferase (GGT) in infancy or early childhood. Affected individuals have hepatosplenomegaly and may have portal hypertension or upper gastrointestinal bleeding. Liver biopsy shows fibrosis, cirrhosis, bile duct proliferation, and abnormal bile duct morphology. The disorder is thought to result from ciliary defects in cholangiocytes, consistent with a ciliopathy that appears to be restricted to the liver. Treatment with ursodeoxycholic acid (UDCA) or liver transplant is effective ({1:Luan et al., 2021}).\n\nFor a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 ({211600})." +619851,"Hypomyelinating leukodystrophy-24 (HLD24) is an autosomal dominant disorder characterized by global developmental delay and neurologic deterioration ({1:Segawa et al., 2021})." +619854,"Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) is characterized by global developmental delay apparent since infancy or early childhood, hypotonia with delayed motor development, impaired intellectual development with significant speech delay or absent speech, and variable behavioral abnormalities, such as autism, repetitive actions, or aggression. About two-thirds of patients have early-onset seizures that range from intractable to self-limiting. More variable features include nonspecific dysmorphic facial features, distal skeletal anomalies, and brain imaging abnormalities. The phenotypic manifestations and severity are highly variable ({2:Muir et al., 2021})." +619855,"Abnormal thyroid hormone metabolism-2 (THMA2) is characterized by elevated serum reverse triiodothyronine (rT3) levels and rT3/T3 ratios. Some patients exhibit resistance to thyroid-stimulating hormone (TSH; see {188540}) with mildly elevated TSH levels, and elevated cholesterol levels have been observed ({1:Franca et al., 2021}).\n\nFor a discussion of genetic heterogeneity of abnormal thyroid hormone metabolism, see THMA1 ({609698})." +619858,"Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy ({5:Rodero et al., 2017}). Treatment with a JAK (see {147795}) inhibitor (baricitinib) may be effective ({1:Hong et al., 2020})." +619859,"Phosphoribosylaminoimidazole carboxylase deficiency (PAICSD) is an autosomal recessive disorder characterized by multiple congenital anomalies and early neonatal death ({1:Pelet et al., 2019})." +619862,"Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life. The disorder is slowly progressive. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy ({1:Rebelo et al., 2021})." +619864,"Childhood-onset remitting leukodystrophy (CORLK) is a very rare autosomal dominant disorder characterized in some patients by onset of a metabolic crisis at the end of the first year of life that leads to widespread demyelination and leukodystrophy on brain imaging and a dramatic loss of developmental abilities. Affected children recover over the following several months, regaining normal development accompanied by remyelination. Not all patients have documented acute episodes of metabolic demyelination in infancy, but individuals with the FBP2 mutation show persistent white matter abnormalities on brain imaging that resemble the abnormalities observed in infants with the acute crisis. Other neurologic disturbances that may or may not be related to the FBP2 mutation have been observed, including psychiatric manifestations, seizures, and mild learning difficulties ({1:Gizak et al., 2021})." +619867,"Spermatogenic failure-72 (SPGF72) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including coiled, short, angulated, absent, and irregular-caliber flagella, resulting in lack of sperm motility ({2:Ni et al., 2020}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619868,"Progressive familial intrahepatic cholestasis-10 (PFIC10) is an autosomal recessive liver disorder characterized by the onset of symptoms in the first months or years of life. Features include jaundice, pruritis, and hepatomegaly associated with increased serum bilirubin and bile acids. Liver transaminases may be variably increased, but gamma-glutamyltransferase (GGT; see {612346}) is normal. Liver biopsy shows hepatocellular and canalicular cholestasis with giant cell changes. Although rare patients may have episodes of diarrhea and even show endoscopic features of microvillus inclusion disease (MVID), this tends to be transient and cholestasis dominates the clinical picture ({3:Gonzales et al., 2017}; {2:Cockar et al., 2020}).\n\nFor a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 ({211600})." +619869,"Neurocardiofaciodigital syndrome (NCFD) is characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with a supernumerary hypoplastic digit between the fourth and fifth digits of the hands and/or feet. Other features include eye abnormalities, hearing impairment, and electroencephalogram anomalies (summary by {1:Horn et al., 2021})." +619871,"Punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) is characterized by the presence of tiny round multicolored opacities in the posterior stroma of the cornea, immediately anterior to the Descemet membrane. Affected individuals are typically asymptomatic and experience no visual disturbance ({1:Alio del Barrio et al., 2020})." +619872,"Immunodeficiency-101 (varicella zoster virus-specific) (IMD101) is an autosomal dominant immunologic condition characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV. The viral reactivation manifests as central nervous system vasculitis with stroke-like episodes and lacunar infarcts on brain imaging. Features include headache, hemiparesis, impaired balance, and other neurologic signs. The disorder results from an impaired innate immune response specifically to VZV DNA. Affected individuals do not have increased susceptibility to other infections. Treatment with acyclovir is effective ({1:Carter-Timofte et al., 2018})." +619873,"Parenti-Mignot neurodevelopmental syndrome (PMNDS) is an autosomal dominant neurodevelopmental disorder frequently characterized by impaired intellectual development, speech delay, motor delay, behavioral problems, and epilepsy ({1:Parenti et al., 2021})." +619876,"Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures (NEDMHS) is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia with poor or absent motor skills, feeding difficulties with poor overall growth, microcephaly, mild dysmorphic features, and early-onset seizures. Additional variable features, such as nystagmus, cortical blindness, and spasticity, may also occur. Patients with this disorder tend to have recurrent respiratory infections, likely due to aspiration, that may lead to death in childhood ({1:Arnadottir et al., 2022})." +619877,"Dentici-Novelli neurodevelopmental syndrome (DENNED) is an autosomal recessive disorder characterized by global developmental delay with impaired intellectual development apparent from infancy. The severity of the phenotype is highly variable: more severely affected individuals have axial hypotonia, peripheral spasticity, microcephaly, early-onset seizures, brain imaging abnormalities, and are unable to walk or speak. Those with a less severe phenotype may achieve some developmental goals and show less severe intellectual disability ({2:Dentici et al., 2022})." +619878,"Spermatogenic failure-73 (SPGF73) is characterized by male infertility, resulting from nonobstructive azoospermia due to meiotic arrest ({3:Li et al., 2022}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619879,"Meckel syndrome-14 (MKS14) is a lethal disorder characterized by occipital encephalocele, postaxial polydactyly of the hands and feet, and polycystic kidneys. Stillbirth has been reported, as well as death within hours in a live-born affected individual ({3:Shaheen et al., 2016}; {2:Ridnoi et al., 2019}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of Meckel syndrome, see MKS1 ({249000})." +619880,"Neurodevelopmental disorder with poor growth and skeletal anomalies (NEDGS) is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia, delayed walking, poor or absent speech, and variable skeletal anomalies. More variable features include seizures, nonspecific dysmorphic facial features, oculomotor apraxia, and nonspecific brain imaging abnormalities ({1:Iqbal et al., 2021})." +619881,"Developmental and epileptic encephalopathy-102 (DEE102) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak. Most patients have onset of variable types of seizures within the first year of life, and the seizures tend to be refractory. Additional features include progressive microcephaly, visual impairment, axial hypotonia, peripheral hypertonia, and nonspecific brain imaging abnormalities ({1:Marafi et al., 2022}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +619884,"Childhood- or juvenile-onset osteoporosis with developmental delay (OPDD) is characterized by evidence of osteopenia or osteoporosis, with recurrent fractures following minor trauma in some patients. Developmental delay is variable, and includes mild intellectual or learning disabilities as well as wide-based gait and/or gross motor delays. Microcephaly is present in some patients ({1:Marom et al., 2021})." +619887,"Renal hypodysplasia/aplasia-4 (RHDA4) is characterized by bilateral renal agenesis, with severely reduced to absent amniotic fluid during pregnancy. Patients exhibit the Potter sequence, including flattened nose, ear anomalies, and receding chin, as well as limb contractures and joint dislocations in some patients ({2:Arora et al., 2021}; {1:Al-Shamsi et al., 2022}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of renal hypoplasia/dysplasia, see RHDA1 ({191830})." +619895,"Holoprosencephaly-14 (HPE14) is an autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum ({1:Drissi et al., 2022}).\n\nFor general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 ({236100})." +619897,"Dilated cardiomyopathy-2G (CMD2G) is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. Cardiac tissue exhibits markedly shortened thin filaments, disorganized myofibrils, and reduced contractile force generation, resulting in the severe ventricular dysfunction observed. There is no evidence of skeletal muscle hypertrophy ({1:Ahrens-Nicklas et al., 2019}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see {115200}." +619902,"Hepatorenocardiac degenerative fibrosis (HRCDF) is a primarily fibrotic disease affecting the liver, kidney, and heart, with considerable variability in disease onset and expression. Affected individuals develop degenerative hepatic fibrosis in childhood or early adulthood, with variable later onset of fibrocystic kidney disease and hypertrophic cardiomyopathy ({1:Devane et al., 2022})." +619903,"Childhood-onset biotin-responsive peripheral motor neuropathy (COMNB) is an autosomal recessive disorder characterized predominantly by the onset of distal muscle weakness and atrophy late in the first decade of life. The disorder predominantly affects the upper limbs and hands, resulting in difficulties with fine motor skills. Some patients may have lower limb involvement, resulting in gait difficulties. Electrophysiologic studies and muscle biopsy are consistent with chronic denervation with axonal and demyelinating features. Rare patients may have additional neurologic signs, including spasticity, ataxia, and cerebellar signs. Sensation is intact, and patients have normal cognitive development. Treatment with biotin, pantothenic acid, and lipoic acid may result in clinical improvement ({1:Holling et al., 2022})." +619908,"Neurodevelopmental disorder with language delay and seizures (NEDLDS) is an autosomal recessive disorder characterized by global developmental delay with mild to severely impaired intellectual development and speech delay with poor or absent language. Affected individuals develop early-onset seizures that are usually well-controlled with medication. Additional features may include axial hypotonia, peripheral hypertonia, hypothyroidism, and nonspecific dysmorphic features or brain imaging abnormalities ({1:Lu et al., 2022})." +619909,"Pontocerebellar hypoplasia type 17 (PCH17) is a severe autosomal recessive developmental disorder characterized by neonatal hypotonia, severe feeding difficulties, and respiratory insufficiency. Brain imaging shows cerebellar and brainstem hypoplasia. Most affected individuals die in infancy. Those who survive show variable developmental delay. Other features of the disorder include distal hypertonia, poor overall growth, visual defects, autonomic problems, dysmorphic features, and seizures ({1:Coolen et al., 2022}).\n\nFor a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A ({607596})." +619910,"Autosomal dominant intellectual developmental disorder-66 (MRD66) is characterized by global developmental delay with mild to moderately impaired intellectual development and mild speech delay. The phenotype and severity are highly variable. Some patients have behavioral problems or autism spectrum disorder, and about 50% have variable types of seizures. Additional features may include nonspecific dysmorphic facial features, tall or short stature, and mild skeletal anomalies ({1:Rahimi et al., 2022})." +619911,"Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism (IDLDP) is a neurodevelopmental disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Some patients may have normal early development in infancy before symptom onset. There is phenotypic heterogeneity and the severity is highly variable; less severely affected individuals have only mild deficits and are able to attend special schools. About half of patients develop various types of seizures that may be refractory or responsive to treatment. Most patients also show movement abnormalities, often hypotonia early in the disease course with later development of dopa-responsive dystonia or parkinsonism ({4:Ramos et al., 2019}, {7:Wirth et al., 2020}; {6:Singh et al., 2020})." +619913,"Developmental and epileptic encephalopathy-103 (DEE103) is characterized by onset of various types of seizures in the first year of life, most of which are refractory to treatment. Affected individuals show global developmental delay with impaired intellectual development ranging from mild to severe. Additional features may include hypotonia, ataxia, and behavioral abnormalities, including autism and hyperactivity ({3:Schwarz et al., 2022}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of DEE, see {308350}." +619921,"Childhood-onset dystonia-35 (DYT35) is an autosomal recessive neurologic disorder characterized by the onset of a dystonic movement disorder in the first year of life. Symptoms may be partially responsive to L-DOPA treatment. Neurodevelopment is otherwise normal ({1:Sleiman et al., 2022})." +619922,"Neurodevelopmental disorder with dystonia and seizures (NEDDS) is a severe autosomal recessive disorder characterized by hypotonia and dystonic posturing apparent from early infancy. Affected individuals show global developmental delay with inability to walk or speak and have profoundly impaired intellectual development, often with behavioral abnormalities. Additional features may include other extrapyramidal movements, seizures or seizure-like activity, and cerebellar hypoplasia on brain imaging ({2:Sleiman et al., 2022})." +619924,"Immunodeficiency-105 (IMD105) is an autosomal recessive disorder characterized by onset of recurrent infections in early infancy. Manifestations may include pneumonia, dermatitis, and lymphadenopathy. B-cell lymphoma was reported in 1 patient. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, hypogammaglobulinemia, and normal or low NK cells. The disorder is caused by a deficiency of transmembrane protein CD45 (PTPRC) on leukocytes, which plays an important role in T- and B-cell development ({1:Cale et al., 1997}; {2:Kung et al., 2000}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see {601457}." +619927,"Autosomal dominant intellectual developmental disorder-67 (MRD67) is characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood. Additional features may include behavioral abnormalities, such as autism spectrum disorder (ASD) and ADHD, as well as language and sleeping difficulties. Brain imaging is normal ({4:Ismail et al., 2022})." +619935,"Immunodeficiency-106 (IMD106) is an autosomal recessive immunologic disorder characterized by increased susceptibility to viral infections beginning in infancy or early childhood. Some patients present with recurrent respiratory infections or other viral infections. In many cases, the susceptibility to viral infections due to IMD106 only becomes apparent after initial vaccination with live attenuated viral (LAV) vaccines, most notably MMR and yellow fever. A subset of IMD106 patients who demonstrate adverse reactions to MMR or other LAV vaccinations develop a severe acute hyperinflammatory response reminiscent of hemophagocytic lymphohistiocytosis (HLH) and may show encephalopathy, acute respiratory distress syndrome, and multiorgan failure. However, some patients with IMD106 tolerate MMR vaccination without sequelae. IFNAR1 deficiency may also predispose to severe respiratory infection with SARS-CoV-2 and to herpes simplex virus-1 (HSV1) encephalitis (HSE). The disorder results from an impaired type I interferon signaling response ({2:Bastard et al., 2022})." +619937,"Spermatogenic failure-74 (SPGF74) is characterized by nonobstructive azoospermia and male infertility due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage. Some men exhibit reduced testicular volume and/or reduced testosterone level ({1:Wyrwoll et al., 2022}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 ({258150})." +619938,"Premature ovarian failure-20 (POF20) is characterized by female infertility due to secondary amenorrhea. Some patients exhibit atrophic ovaries lacking follicles ({2:Carlosama et al., 2017}; {1:Akbari et al., 2021}; {4:Wyrwoll et al., 2022}).\n\nFor a general phenotypic description and a discussion of genetic heterogeneity of POF, see POF1 ({311360})." +619941,"Carey-Fineman-Ziter syndrome-2 (CFZS2) is an autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Other features may include failure to thrive, axial hypotonia, and progressive scoliosis ({1:Ramirez-Martinez et al., 2022}).\n\nFor a discussion of genetic heterogeneity of Carey-Fineman-Ziter syndrome, see CFZS1 ({254940})." +619947,"Waardenburg syndrome type 2F (WS2F) is characterized by congenital or neonatal-onset sensorineural hearing loss and altered pigmentation of the iris, hair, and skin. Variable expressivity has been reported, even among patients with the same mutation ({1:Ogawa et al., 2017}; {2:Vona et al., 2022}).\n\nFor a general phenotypic description and discussion of genetic heterogeneity of WS2, as well as a brief description of other clinical variants of Waardenburg syndrome (WS1, {193500}; WS3, {148820}; and WS4, {277580}), see WS2A ({193510})." diff --git a/RDAS_GFKG/OrphanMap/ORPHAlinearisation_en.csv b/RDAS_GFKG/OrphanMap/ORPHAlinearisation_en.csv new file mode 100644 index 0000000..5eca3df --- /dev/null +++ b/RDAS_GFKG/OrphanMap/ORPHAlinearisation_en.csv @@ -0,0 +1,7326 @@ +date,version,copyright,dbserver,FullName,lang,ShortIdentifier,LegalCode,count,id,OrphaCode,ExpertLink,lang2,Name,lang3,count4,id5,OrphaCode6,Name7,lang8,id9,cycle,id10,Name11,lang12 +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17601,166024,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024,en,"Multiple epiphyseal dysplasia, Al-Gazali type",en,1,12333,93419,Rare bone disease,en,17601,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2,58,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58,en,Alexander disease,en,1,13024,98006,Rare neurologic disease,en,2,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17603,166032,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166032,en,"Multiple epiphyseal dysplasia, with miniepiphyses",en,1,12333,93419,Rare bone disease,en,17603,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3,61,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61,en,Alpha-mannosidosis,en,1,10507,68367,Rare inborn errors of metabolism,en,3,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17602,166029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166029,en,"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia",en,1,12333,93419,Rare bone disease,en,17602,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17605,166038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166038,en,"Metaphyseal chondrodysplasia, Kaitila type",en,1,12333,93419,Rare bone disease,en,17605,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5,93,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93,en,Aspartylglucosaminuria,en,1,10507,68367,Rare inborn errors of metabolism,en,5,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17604,166035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035,en,Brachydactyly-short stature-retinitis pigmentosa syndrome,en,1,12333,93419,Rare bone disease,en,17604,TRUE,21485,http://www.orpha.net/ORDO/Orphanet_2300,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,6,585,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585,en,Multiple sulfatase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,6,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7,118,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118,en,Beta-mannosidosis,en,1,10507,68367,Rare inborn errors of metabolism,en,7,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8,141,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141,en,Canavan disease,en,1,13024,98006,Rare neurologic disease,en,8,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17608,166063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063,en,Pontocerebellar hypoplasia type 4,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17608,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17611,166078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166078,en,Von Willebrand disease type 1,en,1,13010,97992,Rare hematologic disease,en,17611,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17610,166073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073,en,Pontocerebellar hypoplasia type 6,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17610,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11,213,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213,en,Cystinosis,en,1,10507,68367,Rare inborn errors of metabolism,en,11,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17613,166084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084,en,Von Willebrand disease type 2A,en,1,13010,97992,Rare hematologic disease,en,17613,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12,333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333,en,Farber disease,en,1,10507,68367,Rare inborn errors of metabolism,en,12,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17612,166081,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166081,en,Von Willebrand disease type 2,en,1,13010,97992,Rare hematologic disease,en,17612,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13,349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349,en,Fucosidosis,en,1,10507,68367,Rare inborn errors of metabolism,en,13,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17615,166090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166090,en,Von Willebrand disease type 2M,en,1,13010,97992,Rare hematologic disease,en,17615,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14,365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365,en,Glycogen storage disease due to acid maltase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,14,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17614,166087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166087,en,Von Willebrand disease type 2B,en,1,13010,97992,Rare hematologic disease,en,17614,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,15,366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366,en,Glycogen storage disease due to glycogen debranching enzyme deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,15,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17616,166093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166093,en,Von Willebrand disease type 2N,en,1,13010,97992,Rare hematologic disease,en,17616,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17,368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368,en,Glycogen storage disease due to muscle glycogen phosphorylase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,17,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17617,166096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166096,en,Von Willebrand disease type 3,en,1,13010,97992,Rare hematologic disease,en,17617,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16,367,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367,en,Glycogen storage disease due to glycogen branching enzyme deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,16,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17618,166100,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100,en,Autosomal dominant otospondylomegaepiphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,17618,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19,371,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371,en,Glycogen storage disease due to muscle phosphofructokinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,19,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17619,166105,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105,en,FASTKD2-related infantile mitochondrial encephalomyopathy,en,1,13024,98006,Rare neurologic disease,en,17619,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18,369,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369,en,Glycogen storage disease due to liver glycogen phosphorylase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,18,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21,447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447,en,Paroxysmal nocturnal hemoglobinuria,en,1,13010,97992,Rare hematologic disease,en,21,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17620,166108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166108,en,"Intellectual disability, Birk-Barel type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,17620,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17621,166113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166113,en,Bazex syndrome,en,1,11896,89826,Rare skin disease,en,17621,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17622,166119,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119,en,Isolated osteopoikilosis,en,1,12333,93419,Rare bone disease,en,17622,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22,487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487,en,Krabbe disease,en,1,10507,68367,Rare inborn errors of metabolism,en,22,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17624,166260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166260,en,Dentinogenesis imperfecta type 2,en,1,13044,98026,Rare odontologic disease,en,17624,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17625,166265,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265,en,Dentinogenesis imperfecta type 3,en,1,13044,98026,Rare odontologic disease,en,17625,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24,583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583,en,Mucopolysaccharidosis type 6,en,1,10507,68367,Rare inborn errors of metabolism,en,24,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17626,166272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272,en,Odontochondrodysplasia,en,1,12333,93419,Rare bone disease,en,17626,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27,576,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576,en,Mucolipidosis type II,en,1,10507,68367,Rare inborn errors of metabolism,en,27,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17627,166277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277,en,Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,en,1,12333,93419,Rare bone disease,en,17627,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26,812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812,en,Sialidosis type 1,en,1,10507,68367,Rare inborn errors of metabolism,en,26,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17628,166282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166282,en,Familial sick sinus syndrome,en,1,12948,97929,Rare cardiac disease,en,17628,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29,578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578,en,Mucolipidosis type IV,en,1,10507,68367,Rare inborn errors of metabolism,en,29,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17629,166286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166286,en,Porokeratotic eccrine ostial and dermal duct nevus,en,1,11896,89826,Rare skin disease,en,17629,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28,577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577,en,Mucolipidosis type III,en,1,10507,68367,Rare inborn errors of metabolism,en,28,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17630,166291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166291,en,Dirofilariasis,en,1,10557,68416,Rare infectious disease,en,17630,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17635,166308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166308,en,Benign infantile focal epilepsy with midline spikes and waves during sleep,en,1,13024,98006,Rare neurologic disease,en,17635,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17634,166305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166305,en,Benign infantile seizures associated with mild gastroenteritis,en,1,13024,98006,Rare neurologic disease,en,17634,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,32,2912,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2912,en,Poliomyelitis,en,1,10557,68416,Rare infectious disease,en,32,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17633,166302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166302,en,Benign partial epilepsy with secondarily generalized seizures in infancy,en,1,13024,98006,Rare neurologic disease,en,17633,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17632,166299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166299,en,Benign partial epilepsy of infancy with complex partial seizures,en,1,13024,98006,Rare neurologic disease,en,17632,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,38,796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796,en,Sandhoff disease,en,1,10507,68367,Rare inborn errors of metabolism,en,38,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17639,166409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166409,en,Photosensitive epilepsy,en,1,13024,98006,Rare neurologic disease,en,17639,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,42,461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461,en,Recessive X-linked ichthyosis,en,1,11896,89826,Rare skin disease,en,42,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17643,166421,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166421,en,Orgasm-induced seizures,en,1,13024,98006,Rare neurologic disease,en,17643,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17642,166418,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166418,en,Eating reflex epilepsy,en,1,13024,98006,Rare neurologic disease,en,17642,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17641,166415,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166415,en,Audiogenic seizures,en,1,13024,98006,Rare neurologic disease,en,17641,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,40,584,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584,en,Mucopolysaccharidosis type 7,en,1,10507,68367,Rare inborn errors of metabolism,en,40,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17640,166412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166412,en,Hot water reflex epilepsy,en,1,13024,98006,Rare neurologic disease,en,17640,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17647,166433,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166433,en,Reading seizures,en,1,13024,98006,Rare neurologic disease,en,17647,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17646,166430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166430,en,Micturation-induced seizures,en,1,13024,98006,Rare neurologic disease,en,17646,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,44,881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881,en,Turner syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,44,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17645,166427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166427,en,Startle epilepsy,en,1,13024,98006,Rare neurologic disease,en,17645,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17644,166424,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166424,en,Thinking seizures,en,1,13024,98006,Rare neurologic disease,en,17644,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,45,95,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95,en,Friedreich ataxia,en,1,13024,98006,Rare neurologic disease,en,45,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,51,848,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848,en,Beta-thalassemia,en,1,13010,97992,Rare hematologic disease,en,51,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,50,846,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846,en,Alpha-thalassemia,en,1,13010,97992,Rare hematologic disease,en,50,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,49,586,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586,en,Cystic fibrosis,en,1,12974,97955,Rare respiratory disease,en,49,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,59,261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261,en,Emery-Dreifuss muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,59,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,63,550,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550,en,MELAS,en,1,13024,98006,Rare neurologic disease,en,63,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,62,269,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269,en,Facioscapulohumeral dystrophy,en,1,13024,98006,Rare neurologic disease,en,62,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,61,480,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480,en,Kearns-Sayre syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,61,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,64,551,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551,en,MERRF,en,1,13024,98006,Rare neurologic disease,en,64,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,65,597,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597,en,Central core disease,en,1,13024,98006,Rare neurologic disease,en,65,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17538,163746,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746,en,Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,en,1,13024,98006,Rare neurologic disease,en,17538,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,76,684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684,en,Paramyotonia congenita of Von Eulenburg,en,1,13024,98006,Rare neurologic disease,en,76,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17549,163931,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163931,en,Acrodermatitis continua of Hallopeau,en,1,11896,89826,Rare skin disease,en,17549,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,77,273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273,en,Steinert myotonic dystrophy,en,1,13024,98006,Rare neurologic disease,en,77,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17548,163927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163927,en,Pustulosis palmaris et plantaris,en,1,11896,89826,Rare skin disease,en,17548,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17551,163937,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937,en,"X-linked intellectual disability, Najm type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,17551,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17550,163934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163934,en,Atopic keratoconjunctivitis,en,1,12984,97966,Rare ophthalmic disorder,en,17550,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,75,614,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=614,en,Thomsen and Becker disease,en,1,13024,98006,Rare neurologic disease,en,75,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17546,163921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163921,en,Posttransplant acute limbic encephalitis,en,1,13024,98006,Rare neurologic disease,en,17546,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17556,163966,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966,en,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",en,1,12333,93419,Rare bone disease,en,17556,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17557,163971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971,en,"X-linked intellectual disability, Cilliers type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,17557,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17558,163976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976,en,"X-linked intellectual disability, Van Esch type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,17558,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17559,163979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163979,en,X-linked intellectual disability-craniofacioskeletal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17559,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17554,163956,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163956,en,"X-linked intellectual disability, Nascimento type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,17554,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17555,163961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961,en,X-linked cerebral-cerebellar-coloboma syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17555,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17567,164726,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164726,en,Acute myeloid leukemia and myelodysplastic syndromes related to radiation,en,1,19592,250908,Rare neoplastic disease,en,17567,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,94,324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324,en,Fabry disease,en,1,10507,68367,Rare inborn errors of metabolism,en,94,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17561,163985,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985,en,Hyperekplexia-epilepsy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17561,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,91,778,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778,en,Rett syndrome,en,1,13024,98006,Rare neurologic disease,en,91,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,90,72,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72,en,Angelman syndrome,en,1,13024,98006,Rare neurologic disease,en,90,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,102,307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307,en,Juvenile myoclonic epilepsy,en,1,13024,98006,Rare neurologic disease,en,102,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,101,1941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1941,en,Juvenile absence epilepsy,en,1,13024,98006,Rare neurologic disease,en,101,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,99,892,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892,en,Von Hippel-Lindau disease,en,1,19592,250908,Rare neoplastic disease,en,99,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,97,731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731,en,Autosomal recessive polycystic kidney disease,en,1,12456,93626,Rare renal disease,en,97,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17568,164736,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164736,en,Familial advanced sleep-phase syndrome,en,1,13024,98006,Rare neurologic disease,en,17568,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,110,138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138,en,CHARGE syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,110,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,109,558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558,en,Marfan syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,109,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17579,165805,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165805,en,Familial mesial temporal lobe epilepsy with febrile seizures,en,1,13024,98006,Rare neurologic disease,en,17579,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,106,803,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=803,en,Amyotrophic lateral sclerosis,en,1,13024,98006,Rare neurologic disease,en,106,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,104,100,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100,en,Ataxia-telangiectasia,en,1,13024,98006,Rare neurologic disease,en,104,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,105,733,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733,en,Familial adenomatous polyposis,en,1,12954,97935,Rare gastroenterologic disease,en,105,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,118,399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399,en,Huntington disease,en,1,13024,98006,Rare neurologic disease,en,118,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17588,165955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165955,en,Wound myiasis,en,1,10557,68416,Rare infectious disease,en,17588,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,117,501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=501,en,Lafora disease,en,1,13024,98006,Rare neurologic disease,en,117,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,116,870,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870,en,Down syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,116,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17589,165958,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165958,en,Cavitary myiasis,en,1,10557,68416,Rare infectious disease,en,17589,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,112,512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512,en,Metachromatic leukodystrophy,en,1,13024,98006,Rare neurologic disease,en,112,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17598,166011,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166011,en,"Multiple epiphyseal dysplasia, Beighton type",en,1,12333,93419,Rare bone disease,en,17598,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,126,567,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567,en,22q11.2 deletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,126,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17599,166016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166016,en,"Multiple epiphyseal dysplasia, Lowry type",en,1,12333,93419,Rare bone disease,en,17599,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,125,232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232,en,Sickle cell anemia,en,1,13010,97992,Rare hematologic disease,en,125,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,124,536,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536,en,Systemic lupus erythematosus,en,1,13041,98023,Rare systemic or rheumatologic disease,en,124,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17597,166002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166002,en,Multiple epiphyseal dysplasia due to collagen 9 anomaly,en,1,12333,93419,Rare bone disease,en,17597,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,123,534,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534,en,Oculocerebrorenal syndrome of Lowe,en,1,12469,93890,Rare developmental defect during embryogenesis,en,123,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,122,790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=790,en,Retinoblastoma,en,1,19592,250908,Rare neoplastic disease,en,122,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17595,165991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991,en,Exercise-induced hyperinsulinism,en,1,10507,68367,Rare inborn errors of metabolism,en,17595,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,121,652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652,en,Multiple endocrine neoplasia type 1,en,1,19592,250908,Rare neoplastic disease,en,121,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,120,908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908,en,Fragile X syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,120,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,137,3099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3099,en,Rheumatic fever,en,1,13041,98023,Rare systemic or rheumatologic disease,en,137,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,139,739,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739,en,Prader-Willi syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,139,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,142,47,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47,en,X-linked agammaglobulinemia,en,1,13022,98004,Rare immune disease,en,142,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,131,580,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580,en,Mucopolysaccharidosis type 2,en,1,10507,68367,Rare inborn errors of metabolism,en,131,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,132,579,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579,en,Mucopolysaccharidosis type 1,en,1,10507,68367,Rare inborn errors of metabolism,en,132,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,134,905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905,en,Wilson disease,en,1,10772,57146,Rare hepatic disease,en,134,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,155,792,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792,en,X-linked retinoschisis,en,1,12984,97966,Rare ophthalmic disorder,en,155,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17500,163525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163525,en,Subacute cutaneous lupus erythematosus,en,1,11896,89826,Rare skin disease,en,17500,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,158,827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827,en,Stargardt disease,en,1,12984,97966,Rare ophthalmic disorder,en,158,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,144,906,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906,en,Wiskott-Aldrich syndrome,en,1,13022,98004,Rare immune disease,en,144,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,145,904,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904,en,Williams syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,145,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,147,280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280,en,Wolf-Hirschhorn syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,147,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17490,162516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162516,en,Isolated congenital nasal pyriform aperture stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17490,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,148,15,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15,en,Achondroplasia,en,1,12333,93419,Rare bone disease,en,148,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,149,96,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96,en,Ataxia with vitamin E deficiency,en,1,13024,98006,Rare neurologic disease,en,149,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17492,162526,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162526,en,Isolated congenital auditory ossicle malformation,en,1,13054,98036,Rare otorhinolaryngologic disease,en,17492,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,150,101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101,en,Dentatorubral pallidoluysian atrophy,en,1,13024,98006,Rare neurologic disease,en,150,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,151,783,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783,en,Rubinstein-Taybi syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,151,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17514,163649,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649,en,Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome,en,1,12333,93419,Rare bone disease,en,17514,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,171,631,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631,en,Non-acquired isolated growth hormone deficiency,en,1,12996,97978,Rare endocrine disease,en,171,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,170,276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276,en,T-B+ severe combined immunodeficiency due to gamma chain deficiency,en,1,13022,98004,Rare immune disease,en,170,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17515,163654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163654,en,Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome,en,1,12333,93419,Rare bone disease,en,17515,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,169,481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481,en,Kennedy disease,en,1,13024,98006,Rare neurologic disease,en,169,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,168,664,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664,en,Ornithine transcarbamylase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,168,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17518,163668,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668,en,"Spondyloepiphyseal dysplasia, MacDermot type",en,1,12333,93419,Rare bone disease,en,17518,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17516,163662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163662,en,"Spondyloepiphyseal dysplasia, Reardon type",en,1,12333,93419,Rare bone disease,en,17516,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,173,394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394,en,Classic homocystinuria,en,1,10507,68367,Rare inborn errors of metabolism,en,173,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17517,163665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665,en,"Spondyloepiphyseal dysplasia tarda, Kohn type",en,1,12333,93419,Rare bone disease,en,17517,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,172,508,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508,en,Leprechaunism,en,1,12996,97978,Rare endocrine disease,en,172,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,162,436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436,en,Hypophosphatasia,en,1,12333,93419,Rare bone disease,en,162,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17507,163596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596,en,Hb Bart's hydrops fetalis,en,1,13010,97992,Rare hematologic disease,en,17507,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,161,429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429,en,Hypochondroplasia,en,1,12333,93419,Rare bone disease,en,161,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,167,104,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104,en,Leber hereditary optic neuropathy,en,1,12984,97966,Rare ophthalmic disorder,en,167,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,164,2182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182,en,Hydrocephalus with stenosis of the aqueduct of Sylvius,en,1,12469,93890,Rare developmental defect during embryogenesis,en,164,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17509,163634,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634,en,Maffucci syndrome,en,1,12333,93419,Rare bone disease,en,17509,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17531,163717,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717,en,Benign familial mesial temporal lobe epilepsy,en,1,13024,98006,Rare neurologic disease,en,17531,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17529,163708,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163708,en,Cryptogenic late-onset epileptic spasms,en,1,13024,98006,Rare neurologic disease,en,17529,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,185,636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636,en,Neurofibromatosis type 1,en,1,13024,98006,Rare neurologic disease,en,185,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17528,163703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163703,en,Febrile infection-related epilepsy syndrome,en,1,13024,98006,Rare neurologic disease,en,17528,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,190,649,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649,en,Norrie disease,en,1,12469,93890,Rare developmental defect during embryogenesis,en,190,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17533,163727,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163727,en,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,en,1,13024,98006,Rare neurologic disease,en,17533,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17532,163721,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163721,en,Rolandic epilepsy-speech dyspraxia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17532,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17522,163684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684,en,Leukoencephalopathy-dystonia-motor neuropathy syndrome,en,1,13024,98006,Rare neurologic disease,en,17522,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17521,163681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681,en,CNTNAP2-related developmental and epileptic encephalopathy,en,1,13024,98006,Rare neurologic disease,en,17521,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,176,379,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379,en,Chronic granulomatous disease,en,1,13022,98004,Rare immune disease,en,176,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,177,16,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16,en,Blue cone monochromatism,en,1,12984,97966,Rare ophthalmic disorder,en,177,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17527,163699,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163699,en,Alveolar soft tissue sarcoma,en,1,19592,250908,Rare neoplastic disease,en,17527,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,182,644,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644,en,NARP syndrome,en,1,13024,98006,Rare neurologic disease,en,182,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,183,637,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637,en,Full NF2-related schwannomatosis,en,1,13054,98036,Rare otorhinolaryngologic disease,en,183,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17526,163696,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696,en,Action myoclonus-renal failure syndrome,en,1,13024,98006,Rare neurologic disease,en,17526,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,180,181,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181,en,X-linked hypohidrotic ectodermal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,180,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17525,163693,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693,en,2p21 microdeletion syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,17525,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17524,163690,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690,en,Hypotonia-cystinuria syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,17524,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,205,337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337,en,Fibrodysplasia ossificans progressiva,en,1,12333,93419,Rare bone disease,en,205,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,207,377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377,en,Gorlin syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,207,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,206,648,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648,en,Noonan syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,206,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,201,281,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281,en,Monosomy 5p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,201,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,203,752,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752,en,"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",en,1,12469,93890,Rare developmental defect during embryogenesis,en,203,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,202,214,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214,en,Cystinuria,en,1,12456,93626,Rare renal disease,en,202,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,197,510,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510,en,Lesch-Nyhan syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,197,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,196,524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524,en,Li-Fraumeni syndrome,en,1,19592,250908,Rare neoplastic disease,en,196,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,193,699,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699,en,Pearson syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,193,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,192,640,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=640,en,Hereditary neuropathy with liability to pressure palsies,en,1,13024,98006,Rare neurologic disease,en,192,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,194,60,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60,en,Alpha-1-antitrypsin deficiency,en,1,12974,97955,Rare respiratory disease,en,194,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,220,895,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895,en,Waardenburg syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,220,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,221,896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896,en,Waardenburg syndrome type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,221,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,218,857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857,en,Townes-Brocks syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,218,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,219,894,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894,en,Waardenburg syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,219,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,212,682,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=682,en,Hyperkalemic periodic paralysis,en,1,13024,98006,Rare neurologic disease,en,212,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,215,800,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800,en,Schwartz-Jampel syndrome,en,1,12333,93419,Rare bone disease,en,215,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,209,628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628,en,Diastrophic dysplasia,en,1,12333,93419,Rare bone disease,en,209,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,210,673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673,en,Malaria,en,1,10557,68416,Rare infectious disease,en,210,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,211,681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681,en,Hypokalemic periodic paralysis,en,1,13024,98006,Rare neurologic disease,en,211,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,238,126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126,en,Blepharophimosis-ptosis-epicanthus inversus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,238,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,237,107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107,en,BOR syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,237,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,236,774,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774,en,Hereditary hemorrhagic telangiectasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,236,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,235,794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794,en,Saethre-Chotzen syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,235,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,234,710,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710,en,Pfeiffer syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,234,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,233,2869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869,en,Peutz-Jeghers syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,233,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,230,893,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893,en,WAGR syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,230,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,225,912,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912,en,Zellweger syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,225,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,254,50,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50,en,Aicardi syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,254,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,255,53,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53,en,Albers-Schnberg osteopetrosis,en,1,12333,93419,Rare bone disease,en,255,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,252,14,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14,en,Abetalipoproteinemia,en,1,12996,97978,Rare endocrine disease,en,252,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,253,52,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52,en,Alagille syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,253,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,249,167,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167,en,Chdiak-Higashi syndrome,en,1,13022,98004,Rare immune disease,en,249,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,246,195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195,en,Cat-eye syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,246,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,244,207,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207,en,Crouzon syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,244,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,242,205,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205,en,Crigler-Najjar syndrome,en,1,10772,57146,Rare hepatic disease,en,242,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17459,160148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160148,en,Cap polyposis,en,1,12954,97935,Rare gastroenterologic disease,en,17459,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,243,201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201,en,Cowden syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,243,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,240,192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192,en,Coffin-Lowry syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,240,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17874,169808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169808,en,Mild hemophilia A,en,1,13010,97992,Rare hematologic disease,en,17874,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17872,169802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169802,en,Severe hemophilia A,en,1,13010,97992,Rare hematologic disease,en,17872,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17873,169805,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169805,en,Moderate hemophilia A,en,1,13010,97992,Rare hematologic disease,en,17873,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,279,562,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562,en,McCune-Albright syndrome,en,1,12333,93419,Rare bone disease,en,279,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,278,565,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565,en,Menkes disease,en,1,10507,68367,Rare inborn errors of metabolism,en,278,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,283,474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474,en,Jeune syndrome,en,1,12333,93419,Rare bone disease,en,283,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,282,540,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540,en,Familial hemophagocytic lymphohistiocytosis,en,1,13022,98004,Rare immune disease,en,282,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,281,568,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568,en,"Microphthalmia, Lenz type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,281,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,280,564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564,en,Meckel syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,280,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,287,289,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289,en,Ellis Van Creveld syndrome,en,1,12333,93419,Rare bone disease,en,287,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,284,258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258,en,Laminin subunit alpha 2-related congenital muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,284,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,258,1247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1247,en,Schistosomiasis,en,1,10557,68416,Rare infectious disease,en,258,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,259,112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=112,en,Bartter syndrome,en,1,12456,93626,Rare renal disease,en,259,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,257,1646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646,en,Partial chromosome Y deletion,en,1,13065,98047,Rare infertility,en,257,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17863,169464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464,en,Primary CD59 deficiency,en,1,13022,98004,Rare immune disease,en,17863,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,260,116,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116,en,Beckwith-Wiedemann syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,260,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,261,87,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87,en,Apert syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,261,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,264,97,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97,en,Familial paroxysmal ataxia,en,1,13024,98006,Rare neurologic disease,en,264,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17864,169467,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169467,en,Recurrent Neisseria infections due to factor D deficiency,en,1,13022,98004,Rare immune disease,en,17864,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,265,313,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313,en,Lamellar ichthyosis,en,1,11896,89826,Rare skin disease,en,265,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17871,169799,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169799,en,Mild hemophilia B,en,1,13010,97992,Rare hematologic disease,en,17871,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17870,169796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169796,en,Moderate hemophilia B,en,1,13010,97992,Rare hematologic disease,en,17870,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17869,169793,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169793,en,Severe hemophilia B,en,1,13010,97992,Rare hematologic disease,en,17869,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17904,171220,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171220,en,Rectal duplication,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17904,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,305,1000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000,en,Ocular albinism with late-onset sensorineural deafness,en,1,12984,97966,Rare ophthalmic disorder,en,305,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,304,999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=999,en,Ermine phenotype,en,1,12469,93890,Rare developmental defect during embryogenesis,en,304,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17906,171430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430,en,Severe congenital nemaline myopathy,en,1,13024,98006,Rare neurologic disease,en,17906,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17907,171433,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433,en,Intermediate nemaline myopathy,en,1,13024,98006,Rare neurologic disease,en,17907,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17908,171436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436,en,Typical nemaline myopathy,en,1,13024,98006,Rare neurologic disease,en,17908,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17909,171439,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439,en,Childhood-onset nemaline myopathy,en,1,13024,98006,Rare neurologic disease,en,17909,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17910,171442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171442,en,Adult-onset nemaline myopathy,en,1,13024,98006,Rare neurologic disease,en,17910,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17911,171445,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171445,en,Muscle filaminopathy,en,1,13024,98006,Rare neurologic disease,en,17911,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17912,171607,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171607,en,X-linked spastic paraplegia type 34,en,1,13024,98006,Rare neurologic disease,en,17912,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,313,2771,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771,en,Bruck syndrome,en,1,12333,93419,Rare bone disease,en,313,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17913,171612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171612,en,Autosomal dominant spastic paraplegia type 37,en,1,13024,98006,Rare neurologic disease,en,17913,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17914,171617,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171617,en,Autosomal dominant spastic paraplegia type 38,en,1,13024,98006,Rare neurologic disease,en,17914,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,315,1349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349,en,Mitochondrial DNA-related cardiomyopathy and hearing loss,en,1,12948,97929,Rare cardiac disease,en,315,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17915,171622,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171622,en,Autosomal recessive spastic paraplegia type 32,en,1,13024,98006,Rare neurologic disease,en,17915,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17916,171629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171629,en,Autosomal recessive spastic paraplegia type 35,en,1,13024,98006,Rare neurologic disease,en,17916,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,293,861,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861,en,Treacher-Collins syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,293,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,294,308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308,en,Progressive myoclonic epilepsy type 1,en,1,13024,98006,Rare neurologic disease,en,294,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,299,199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199,en,Cornelia de Lange syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,299,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,301,2162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162,en,Holoprosencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,301,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,302,930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=930,en,Idiopathic achalasia,en,1,12954,97935,Rare gastroenterologic disease,en,302,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,303,998,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998,en,Albinism-deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,303,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,343,1727,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1727,en,22q11.2 duplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,343,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17815,169079,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079,en,Cernunnos-XLF deficiency,en,1,13022,98004,Rare immune disease,en,17815,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,341,1716,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1716,en,Distal duplication 18q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,341,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,340,1715,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1715,en,Trisomy 18p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,340,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,339,3380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380,en,Trisomy 18,en,1,12469,93890,Rare developmental defect during embryogenesis,en,339,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17810,168984,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984,en,CLAPO syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17810,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,338,1707,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707,en,Distal duplication 15q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,338,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17811,168999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168999,en,Malignant melanoma of the mucosa,en,1,19592,250908,Rare neoplastic disease,en,17811,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,337,3378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378,en,Trisomy 13,en,1,12469,93890,Rare developmental defect during embryogenesis,en,337,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17822,169110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169110,en,Immunoglobulin heavy chain deficiency,en,1,13022,98004,Rare immune disease,en,17822,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17820,169100,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100,en,Immunodeficiency due to CD25 deficiency,en,1,13022,98004,Rare immune disease,en,17820,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17821,169105,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169105,en,Good syndrome,en,1,13022,98004,Rare immune disease,en,17821,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17818,169090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169090,en,Combined immunodeficiency due to CRAC channel dysfunction,en,1,13022,98004,Rare immune disease,en,17818,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,346,236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236,en,Trisomy 9p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,346,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17819,169095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169095,en,Severe combined immunodeficiency due to FOXN1 deficiency,en,1,13022,98004,Rare immune disease,en,17819,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17816,169082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169082,en,Combined immunodeficiency due to CD3gamma deficiency,en,1,13022,98004,Rare immune disease,en,17816,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17817,169085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169085,en,Susceptibility to respiratory infections associated with CD8alpha chain mutation,en,1,13022,98004,Rare immune disease,en,17817,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17798,168829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168829,en,Primary peritoneal carcinoma,en,1,19592,250908,Rare neoplastic disease,en,17798,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17797,168816,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168816,en,Peritoneal cystic mesothelioma,en,1,19592,250908,Rare neoplastic disease,en,17797,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,324,753,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753,en,"46,XY difference of sex development due to 5-alpha-reductase 2 deficiency",en,1,12469,93890,Rare developmental defect during embryogenesis,en,324,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,325,868,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868,en,Triose phosphate-isomerase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,325,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17796,168811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168811,en,Malignant peritoneal mesothelioma,en,1,19592,250908,Rare neoplastic disease,en,17796,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,323,218,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218,en,Darier disease,en,1,11896,89826,Rare skin disease,en,323,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17793,168796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796,en,"Heart-hand syndrome, Slovenian type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,17793,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,321,1465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465,en,Coffin-Siris syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,321,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17792,168782,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168782,en,Childhood disintegrative disorder,en,1,13024,98006,Rare neurologic disease,en,17792,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,334,1642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642,en,Distal deletion 9p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,334,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17807,168966,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168966,en,Composite lymphoma,en,1,19592,250908,Rare neoplastic disease,en,17807,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17806,168960,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168960,en,Refractory anemia with excess blasts in transformation,en,1,19592,250908,Rare neoplastic disease,en,17806,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,335,8,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=8,en,"47,XYY syndrome",en,1,12469,93890,Rare developmental defect during embryogenesis,en,335,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,332,1636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1636,en,Distal monosomy 7q36,en,1,12469,93890,Rare developmental defect during embryogenesis,en,332,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17804,168953,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168953,en,Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement,en,1,19592,250908,Rare neoplastic disease,en,17804,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,330,1600,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600,en,Monosomy 18q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,330,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17803,168950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168950,en,Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement,en,1,19592,250908,Rare neoplastic disease,en,17803,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17802,168947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168947,en,Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement,en,1,19592,250908,Rare neoplastic disease,en,17802,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,328,1598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598,en,Monosomy 18p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,328,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17800,168940,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168940,en,Chronic eosinophilic leukemia,en,1,19592,250908,Rare neoplastic disease,en,17800,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,373,2773,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773,en,Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,en,1,12333,93419,Rare bone disease,en,373,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,372,2772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772,en,Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,en,1,12333,93419,Rare bone disease,en,372,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,369,2609,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609,en,Isolated complex I deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,369,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,370,626,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626,en,Large congenital melanocytic nevus,en,1,11896,89826,Rare skin disease,en,370,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,381,773,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773,en,Refsum disease,en,1,13024,98006,Rare neurologic disease,en,381,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,378,11,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=11,en,Pentasomy X,en,1,12469,93890,Rare developmental defect during embryogenesis,en,378,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17829,169154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169154,en,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,en,1,13022,98004,Rare immune disease,en,17829,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17828,169150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169150,en,Immunodeficiency due to a late component of complement deficiency,en,1,13022,98004,Rare immune disease,en,17828,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17831,169160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169160,en,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,en,1,13022,98004,Rare immune disease,en,17831,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17830,169157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169157,en,T-B+ severe combined immunodeficiency due to CD45 deficiency,en,1,13022,98004,Rare immune disease,en,17830,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17825,169139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169139,en,Transient hypogammaglobulinemia of infancy,en,1,13022,98004,Rare immune disease,en,17825,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,353,1947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947,en,"Progressive epilepsy-intellectual disability syndrome, Finnish type",en,1,13024,98006,Rare neurologic disease,en,353,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17827,169147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169147,en,Immunodeficiency due to a classical component pathway complement deficiency,en,1,13022,98004,Rare immune disease,en,17827,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17826,169142,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169142,en,Recurrent infection due to specific granule deficiency,en,1,13022,98004,Rare immune disease,en,17826,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,364,596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596,en,X-linked centronuclear myopathy,en,1,13024,98006,Rare neurologic disease,en,364,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,367,610,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610,en,Bethlem myopathy,en,1,13024,98006,Rare neurologic disease,en,367,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17833,169186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186,en,Autosomal recessive centronuclear myopathy,en,1,13024,98006,Rare neurologic disease,en,17833,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,360,464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464,en,Incontinentia pigmenti,en,1,12469,93890,Rare developmental defect during embryogenesis,en,360,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,361,3307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3307,en,Tetrasomy 18p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,361,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17834,169189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169189,en,Autosomal dominant centronuclear myopathy,en,1,13024,98006,Rare neurologic disease,en,17834,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,410,44,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44,en,Neonatal adrenoleukodystrophy,en,1,10507,68367,Rare inborn errors of metabolism,en,410,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,411,56,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56,en,Alkaptonuria,en,1,10507,68367,Rare inborn errors of metabolism,en,411,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,408,963,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963,en,Acromegaly,en,1,12996,97978,Rare endocrine disease,en,408,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,415,1059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059,en,Blue rubber bleb nevus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,415,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,412,1006,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1006,en,Alopecia antibody deficiency,en,1,11896,89826,Rare skin disease,en,412,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,413,1046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046,en,Lethal hemolytic anemia-genital anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,413,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,402,22,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22,en,Succinic semialdehyde dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,402,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,403,29,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29,en,Mevalonic aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,403,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,407,245,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245,en,Nager syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,407,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,404,30,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30,en,Hereditary orotic aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,404,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,405,36,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36,en,Acrocallosal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,405,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,394,915,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915,en,Aarskog-Scott syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,394,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,392,2614,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614,en,Nail-patella syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,392,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,399,33,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33,en,Isovaleric acidemia,en,1,10507,68367,Rare inborn errors of metabolism,en,399,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,387,819,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819,en,Smith-Magenis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,387,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,384,3085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085,en,Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,384,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,390,9,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9,en,Tetrasomy X,en,1,12469,93890,Rare developmental defect during embryogenesis,en,390,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17785,168615,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168615,en,Hereditary persistence of alpha-fetoprotein,en,1,13071,98053,Rare genetic disease,en,17785,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17784,168612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168612,en,Congenital deficiency in alpha-fetoprotein,en,1,13071,98053,Rare genetic disease,en,17784,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,442,1442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1442,en,Ring chromosome 18 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,442,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17787,168621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168621,en,"Dysplasia of head of femur, Meyer type",en,1,12333,93419,Rare bone disease,en,17787,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,443,1452,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452,en,Cleidocranial dysplasia,en,1,12333,93419,Rare bone disease,en,443,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,444,1455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1455,en,Autosomal dominant coarctation of aorta,en,1,12469,93890,Rare developmental defect during embryogenesis,en,444,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17789,168629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168629,en,Autosomal thrombocytopenia with normal platelets,en,1,13010,97992,Rare hematologic disease,en,17789,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17788,168624,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624,en,"Familial scaphocephaly syndrome, McGillivray type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,17788,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,445,193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193,en,Cohen syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,445,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,446,1488,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488,en,Cooper-Jabs syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,446,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,447,200,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200,en,Isolated corpus callosum agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,447,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17790,168632,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168632,en,Generalized basaloid follicular hamartoma syndrome,en,1,11896,89826,Rare skin disease,en,17790,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,432,1334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334,en,Chronic mucocutaneous candidiasis,en,1,13022,98004,Rare immune disease,en,432,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17777,168583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583,en,Hereditary North American Indian childhood cirrhosis,en,1,10772,57146,Rare hepatic disease,en,17777,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,433,1369,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369,en,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,433,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17776,168577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577,en,Hereditary cryohydrocytosis with reduced stomatin,en,1,13010,97992,Rare hematologic disease,en,17776,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17779,168593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593,en,Sudden infant death-dysgenesis of the testes syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17779,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,435,1406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406,en,Charlie M syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,435,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17778,168588,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168588,en,Hyperandrogenism due to cortisone reductase deficiency,en,1,12996,97978,Rare endocrine disease,en,17778,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17781,168601,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168601,en,Congenital enteropathy due to enteropeptidase deficiency,en,1,12954,97935,Rare gastroenterologic disease,en,17781,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,437,1414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414,en,Cholestasis-lymphedema syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,437,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17780,168598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598,en,Methionine adenosyltransferase I/III deficiency,en,1,13024,98006,Rare neurologic disease,en,17780,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17782,168606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168606,en,Seborrhea-like dermatitis with psoriasiform elements,en,1,11896,89826,Rare skin disease,en,17782,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17768,168549,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549,en,Axial spondylometaphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,17768,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17769,168552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168552,en,Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,en,1,12333,93419,Rare bone disease,en,17769,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,424,1154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1154,en,Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,424,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17770,168555,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168555,en,"Spondylometaphyseal dysplasia, A4 type",en,1,12333,93419,Rare bone disease,en,17770,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17771,168558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558,en,"46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency",en,1,12469,93890,Rare developmental defect during embryogenesis,en,17771,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17772,168563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563,en,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",en,1,12469,93890,Rare developmental defect during embryogenesis,en,17772,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,429,124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124,en,Diamond-Blackfan anemia,en,1,13010,97992,Rare hematologic disease,en,429,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17773,168566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566,en,Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,en,1,10507,68367,Rare inborn errors of metabolism,en,17773,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,431,1310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310,en,Caffey disease,en,1,12333,93419,Rare bone disease,en,431,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17774,168569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569,en,H syndrome,en,1,11896,89826,Rare skin disease,en,17774,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17775,168572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572,en,Native American myopathy,en,1,13024,98006,Rare neurologic disease,en,17775,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,430,125,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125,en,Bloom syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,430,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,417,90,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90,en,Argininemia,en,1,10507,68367,Rare inborn errors of metabolism,en,417,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17761,168443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168443,en,Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome,en,1,12333,93419,Rare bone disease,en,17761,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,416,1065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065,en,Aniridia-cerebellar ataxia-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,416,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17763,168451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168451,en,Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome,en,1,12333,93419,Rare bone disease,en,17763,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,418,1135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1135,en,Arrhinia-choanal atresia-microphthalmia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,418,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17764,168454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454,en,"Spondyloepimetaphyseal dysplasia, Genevive type",en,1,12333,93419,Rare bone disease,en,17764,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,421,1146,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146,en,Distal arthrogryposis type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,421,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,420,1143,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1143,en,Neurogenic arthrogryposis multiplex congenita,en,1,12469,93890,Rare developmental defect during embryogenesis,en,420,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17765,168486,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486,en,Congenital neuronal ceroid lipofuscinosis,en,1,13024,98006,Rare neurologic disease,en,17765,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17766,168491,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491,en,Late infantile neuronal ceroid lipofuscinosis,en,1,13024,98006,Rare neurologic disease,en,17766,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17767,168544,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168544,en,"Spondylometaphyseal dysplasia, Golden type",en,1,12333,93419,Rare bone disease,en,17767,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,422,1147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147,en,Sheldon-Hall syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,422,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,478,246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246,en,Postaxial acrofacial dysostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,478,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,476,1770,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770,en,XY type gonadal dysgenesis-associated anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,476,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,477,1775,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775,en,Dyskeratosis congenita,en,1,13022,98004,Rare immune disease,en,477,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,474,1764,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764,en,Familial dysautonomia,en,1,13024,98006,Rare neurologic disease,en,474,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,472,235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235,en,Dubowitz syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,472,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,473,239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239,en,Dyggve-Melchior-Clausen disease,en,1,12333,93419,Rare bone disease,en,473,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,470,1672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1672,en,Diencephalic syndrome,en,1,12996,97978,Rare endocrine disease,en,470,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,468,833,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833,en,Encephalopathy due to sulfite oxidase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,468,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17682,167635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167635,en,Scleromyxedema,en,1,11896,89826,Rare skin disease,en,17682,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,467,765,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765,en,Pyruvate dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,467,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,465,395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395,en,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,465,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,463,408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=408,en,Isolated glycerol kinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,463,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,461,147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=147,en,Carbamoyl-phosphate synthetase 1 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,461,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,459,23,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23,en,Argininosuccinic aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,459,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,458,45,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45,en,Adenosine monophosphate deaminase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,458,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,457,226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226,en,Dihydropteridine reductase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,457,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,456,217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217,en,Isolated Dandy-Walker malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,456,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,454,1556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1556,en,Cutis marmorata telangiectatica congenita,en,1,12469,93890,Rare developmental defect during embryogenesis,en,454,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,450,1538,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538,en,Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,450,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,448,1496,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496,en,Corpus callosum agenesis-neuronopathy syndrome,en,1,13024,98006,Rare neurologic disease,en,448,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,508,417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417,en,Neonatal severe primary hyperparathyroidism,en,1,12333,93419,Rare bone disease,en,508,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,510,2233,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233,en,Hypogonadism-mitral valve prolapse-intellectual disability syndrome,en,1,12996,97978,Rare endocrine disease,en,510,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,511,2248,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2248,en,Hypoplastic left heart syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,511,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,504,446,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446,en,Neonatal hemochromatosis,en,1,10772,57146,Rare hepatic disease,en,504,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,505,2135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135,en,Hennekam-Beemer syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,505,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,506,2140,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140,en,Congenital diaphragmatic hernia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,506,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,507,2185,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2185,en,Congenital hydrocephalus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,507,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,502,2116,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116,en,Hartnup disease,en,1,10507,68367,Rare inborn errors of metabolism,en,502,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,503,2118,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118,en,Hawkinsinuria,en,1,10507,68367,Rare inborn errors of metabolism,en,503,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,498,351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351,en,Galactosialidosis,en,1,10507,68367,Rare inborn errors of metabolism,en,498,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,493,2020,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020,en,Congenital fiber-type disproportion myopathy,en,1,13024,98006,Rare neurologic disease,en,493,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,494,2053,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053,en,Freeman-Sheldon syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,494,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,489,1931,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1931,en,Frontal encephalocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,489,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,488,295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295,en,Fetal parvovirus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,488,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,491,1933,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933,en,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",en,1,10507,68367,Rare inborn errors of metabolism,en,491,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,485,1880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880,en,Ebstein malformation of the tricuspid valve,en,1,12469,93890,Rare developmental defect during embryogenesis,en,485,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,487,1915,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915,en,Fetal alcohol syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,487,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,486,1885,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885,en,Isolated ectopia lentis,en,1,12984,97966,Rare ophthalmic disorder,en,486,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,481,1851,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851,en,Multicystic dysplastic kidney,en,1,12456,93626,Rare renal disease,en,481,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,551,660,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660,en,Omphalocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,551,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,548,635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=635,en,Neuroblastoma,en,1,19592,250908,Rare neoplastic disease,en,548,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,549,2612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612,en,Linear nevus sebaceus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,549,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,546,2635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635,en,Metatropic dysplasia,en,1,12333,93419,Rare bone disease,en,546,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,547,2655,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655,en,Thanatophoric dysplasia,en,1,12333,93419,Rare bone disease,en,547,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,545,606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606,en,Proximal myotonic myopathy,en,1,13024,98006,Rare neurologic disease,en,545,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,558,705,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705,en,Pendred syndrome,en,1,13054,98036,Rare otorhinolaryngologic disease,en,558,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,556,2801,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801,en,Juvenile Paget disease,en,1,12333,93419,Rare bone disease,en,556,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,557,884,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884,en,Tetrasomy 12p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,557,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,555,2785,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785,en,Osteopetrosis with renal tubular acidosis,en,1,12333,93419,Rare bone disease,en,555,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,552,2744,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744,en,Horizontal gaze palsy with progressive scoliosis,en,1,12984,97966,Rare ophthalmic disorder,en,552,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,553,2746,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746,en,Opsismodysplasia,en,1,12333,93419,Rare bone disease,en,553,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,567,2971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971,en,Peroxisomal acyl-CoA oxidase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,567,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,566,2970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970,en,Prune belly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,566,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,565,744,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744,en,Proteus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,565,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,564,2903,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2903,en,Familial spontaneous pneumothorax,en,1,12974,97955,Rare respiratory disease,en,564,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,563,2901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2901,en,Neuralgic amyotrophy,en,1,13024,98006,Rare neurologic disease,en,563,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,562,718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718,en,Isolated Pierre Robin syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,562,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,575,290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290,en,Congenital rubella syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,575,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,574,3071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071,en,Costello syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,574,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,571,763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763,en,Pycnodysostosis,en,1,12333,93419,Rare bone disease,en,571,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,570,2983,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983,en,Difference of sex development-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,570,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,516,2301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301,en,Congenital short bowel syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,516,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,517,469,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469,en,Hereditary fructose intolerance,en,1,10507,68367,Rare inborn errors of metabolism,en,517,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,518,2308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308,en,Jacobsen syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,518,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,519,2318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318,en,Joubert syndrome with oculorenal defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,519,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,512,2253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2253,en,Foveal hypoplasia-presenile cataract syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,512,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18113,180188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180188,en,Isolated congenital breast hypoplasia/aplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18113,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18112,180182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180182,en,Supernumerary breasts,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18112,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,515,2300,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2300,en,Multiple intestinal atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,515,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18125,180226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180226,en,Embryonal carcinoma,en,1,19592,250908,Rare neoplastic disease,en,18125,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,526,502,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502,en,Trichorhinophalangeal syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,526,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18126,180229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180229,en,Polyembryoma,en,1,19592,250908,Rare neoplastic disease,en,18126,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,527,2370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2370,en,Larsen-like osseous dysplasia-short stature syndrome,en,1,12333,93419,Rare bone disease,en,527,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,520,477,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477,en,KID syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,520,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18133,180247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180247,en,Vaginal carcinoma,en,1,19592,250908,Rare neoplastic disease,en,18133,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,532,506,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506,en,Leigh syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,532,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,535,2430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2430,en,Congenital macroglossia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,535,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,534,2414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414,en,Congenital pulmonary lymphangiectasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,534,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,529,2373,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2373,en,Congenital laryngomalacia,en,1,13054,98036,Rare otorhinolaryngologic disease,en,529,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18128,180234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180234,en,Mixed germ cell tumor,en,1,19592,250908,Rare neoplastic disease,en,18128,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18129,180237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180237,en,Benign tumor of fallopian tubes,en,1,19592,250908,Rare neoplastic disease,en,18129,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,531,2377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377,en,Laurence-Moon syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,531,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,530,2374,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2374,en,Congenital laryngeal web,en,1,13054,98036,Rare otorhinolaryngologic disease,en,530,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18131,180242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180242,en,Malignant tumor of fallopian tubes,en,1,19592,250908,Rare neoplastic disease,en,18131,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,541,2466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466,en,MASA syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,541,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18141,180275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180275,en,Paget disease of the nipple,en,1,19592,250908,Rare neoplastic disease,en,18141,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,540,560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560,en,Marshall syndrome,en,1,12333,93419,Rare bone disease,en,540,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,543,587,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=587,en,Muir-Torre syndrome,en,1,19592,250908,Rare neoplastic disease,en,543,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,542,570,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570,en,Moebius syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,542,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18137,180261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180261,en,Phyllodes tumor of the breast,en,1,19592,250908,Rare neoplastic disease,en,18137,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18138,180267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180267,en,Giant adenofibroma of the breast,en,1,19592,250908,Rare neoplastic disease,en,18138,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,538,2444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2444,en,Congenital pulmonary airway malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,538,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18083,179494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494,en,Obesity due to leptin receptor gene deficiency,en,1,12996,97978,Rare endocrine disease,en,18083,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,611,716,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716,en,Phenylketonuria,en,1,10507,68367,Rare inborn errors of metabolism,en,611,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18082,179490,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179490,en,Obesity due to congenital leptin resistance,en,1,12996,97978,Rare endocrine disease,en,18082,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,612,287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287,en,Classical Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,612,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18091,180106,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180106,en,Bicervical bicornuate uterus and blind hemivagina,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18091,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18090,180086,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180086,en,Didelphys uterus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18090,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18089,180079,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180079,en,Pseudounicornuate uterus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18089,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18088,180074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180074,en,True unicornuate uterus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18088,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18093,180114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180114,en,Unicervical bicornuate uterus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18093,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18092,180111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180111,en,Bicervical bicornuate uterus with patent cervix and vagina,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18092,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18099,180139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180139,en,Uterine hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18099,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18096,180126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180126,en,Complete septate uterus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18096,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18097,180129,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180129,en,Partial septate uterus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18097,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,631,1020,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020,en,Early-onset autosomal dominant Alzheimer disease,en,1,13024,98006,Rare neurologic disease,en,631,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,630,63,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63,en,Alport syndrome,en,1,12456,93626,Rare renal disease,en,630,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,629,54,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54,en,X-linked recessive ocular albinism,en,1,12984,97966,Rare ophthalmic disorder,en,629,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18100,180142,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180142,en,Absence of uterine body,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18100,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18101,180145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180145,en,Uterine cervical aplasia and agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18101,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18106,180160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180160,en,Transverse vaginal septum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18106,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,635,154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154,en,Familial isolated dilated cardiomyopathy,en,1,12948,97929,Rare cardiac disease,en,635,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,634,84,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84,en,Fanconi anemia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,634,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18104,180154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180154,en,Septate vagina,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18104,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,633,70,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70,en,Proximal spinal muscular atrophy,en,1,13024,98006,Rare neurologic disease,en,633,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18105,180157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180157,en,Longitudinal vaginal septum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18105,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18111,180176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180176,en,Familial juvenile hypertrophy of the breast,en,1,12845,96344,Rare gynecologic or obstetric disease,en,18111,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,638,191,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191,en,Cockayne syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,638,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,578,834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834,en,Free sialic acid storage disease,en,1,10507,68367,Rare inborn errors of metabolism,en,578,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,580,799,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799,en,Schizencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,580,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,582,3151,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151,en,Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome,en,1,13010,97992,Rare hematologic disease,en,582,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,584,813,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813,en,Silver-Russell syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,584,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,585,3169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169,en,Sirenomelia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,585,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,586,816,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816,en,Sjgren-Larsson syndrome,en,1,11896,89826,Rare skin disease,en,586,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,588,821,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821,en,Sotos syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,588,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,589,3173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3173,en,Infantile spasms-broad thumbs syndrome,en,1,13024,98006,Rare neurologic disease,en,589,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,590,3204,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204,en,Stormorken-Sjaastad-Langslet syndrome,en,1,13010,97992,Rare hematologic disease,en,590,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,591,3205,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205,en,Sturge-Weber syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,591,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,595,3320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320,en,Thrombocytopenia-absent radius syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,595,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,597,3346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346,en,Tracheal agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,597,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,596,858,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=858,en,Congenital toxoplasmosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,596,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,603,887,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887,en,VACTERL/VATER association,en,1,12469,93890,Rare developmental defect during embryogenesis,en,603,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,602,291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=291,en,Congenital varicella syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,602,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,605,909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909,en,Cerebrotendinous xanthomatosis,en,1,10507,68367,Rare inborn errors of metabolism,en,605,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,604,3447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447,en,Weaver syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,604,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,606,1422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422,en,Chondrodysplasia-difference of sex development syndrome,en,1,12333,93419,Rare bone disease,en,606,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18030,178478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178478,en,Infant botulism,en,1,10557,68416,Rare infectious disease,en,18030,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18031,178481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178481,en,Intestinal botulism,en,1,10557,68416,Rare infectious disease,en,18031,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18028,178469,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178469,en,Autosomal dominant non-syndromic intellectual disability,en,1,13024,98006,Rare neurologic disease,en,18028,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18029,178475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178475,en,Wound botulism,en,1,10557,68416,Rare infectious disease,en,18029,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18026,178461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178461,en,X-linked myopathy with postural muscle atrophy,en,1,13024,98006,Rare neurologic disease,en,18026,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18027,178464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464,en,Hereditary myopathy with early respiratory failure,en,1,13024,98006,Rare neurologic disease,en,18027,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18024,178396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178396,en,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,en,1,13010,97992,Rare hematologic disease,en,18024,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18025,178400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178400,en,Distal myopathy with anterior tibial onset,en,1,13024,98006,Rare neurologic disease,en,18025,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18022,178382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178382,en,Congenital vertical talus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18022,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18023,178389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389,en,Osteopetrosis-hypogammaglobulinemia syndrome,en,1,12333,93419,Rare bone disease,en,18023,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,678,62,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62,en,Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3,en,1,13024,98006,Rare neurologic disease,en,678,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18020,178364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364,en,Syndromic microphthalmia type 5,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18020,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,677,715,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715,en,Glycogen storage disease due to muscle phosphorylase kinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,677,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18021,178377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377,en,Osteosclerosis-developmental delay-craniosynostosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18021,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,676,348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348,en,"Fructose-1,6-bisphosphatase deficiency",en,1,10507,68367,Rare inborn errors of metabolism,en,676,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18018,178345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178345,en,Aromatase excess syndrome,en,1,12996,97978,Rare endocrine disease,en,18018,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18019,178355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355,en,Smith-McCort dysplasia,en,1,12333,93419,Rare bone disease,en,18019,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18016,178338,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178338,en,UV-sensitive syndrome,en,1,11896,89826,Rare skin disease,en,18016,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,673,3137,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137,en,Alpha-N-acetylgalactosaminidase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,673,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18017,178342,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178342,en,Inflammatory myofibroblastic tumor,en,1,19592,250908,Rare neoplastic disease,en,18017,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18047,178544,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544,en,"Primary cutaneous diffuse large B-cell lymphoma, leg type",en,1,19592,250908,Rare neoplastic disease,en,18047,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18046,178540,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540,en,Primary cutaneous follicle center lymphoma,en,1,19592,250908,Rare neoplastic disease,en,18046,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,703,117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117,en,Behet disease,en,1,13041,98023,Rare systemic or rheumatologic disease,en,703,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,700,732,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=732,en,Polymyositis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,700,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18045,178536,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536,en,Primary cutaneous marginal zone B-cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,18045,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18044,178533,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533,en,Primary cutaneous gamma/delta-positive T-cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,18044,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,701,221,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221,en,Dermatomyositis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,701,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,698,598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598,en,Multiminicore myopathy,en,1,13024,98006,Rare neurologic disease,en,698,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18042,178528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528,en,Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,18042,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,697,204,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=204,en,Sporadic Creutzfeldt-Jakob disease,en,1,13024,98006,Rare neurologic disease,en,697,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18040,178522,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522,en,Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,18040,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18039,178517,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517,en,Localized pagetoid reticulosis,en,1,19592,250908,Rare neoplastic disease,en,18039,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18038,178512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512,en,Folliculotropic mycosis fungoides,en,1,19592,250908,Rare neoplastic disease,en,18038,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18037,178509,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178509,en,Perry syndrome,en,1,13024,98006,Rare neurologic disease,en,18037,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18036,178506,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178506,en,"Brain calcification, Rajab type",en,1,13024,98006,Rare neurologic disease,en,18036,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,690,611,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611,en,Inclusion body myositis,en,1,13024,98006,Rare neurologic disease,en,690,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18033,178493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178493,en,Myopic macular degeneration,en,1,12984,97966,Rare ophthalmic disorder,en,18033,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18032,178487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178487,en,Adult intestinal botulism,en,1,10557,68416,Rare infectious disease,en,18032,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17996,177926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177926,en,Bleeding disorder in hemophilia A carriers,en,1,13010,97992,Rare hematologic disease,en,17996,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,653,581,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581,en,Mucopolysaccharidosis type 3,en,1,10507,68367,Rare inborn errors of metabolism,en,653,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17997,177929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177929,en,Bleeding disorder in hemophilia B carriers,en,1,13010,97992,Rare hematologic disease,en,17997,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,654,666,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666,en,Osteogenesis imperfecta,en,1,12333,93419,Rare bone disease,en,654,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17999,178029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178029,en,Central diabetes insipidus,en,1,12996,97978,Rare endocrine disease,en,17999,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17992,177901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901,en,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17992,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,649,423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423,en,Malignant hyperthermia of anesthesia,en,1,13024,98006,Rare neurologic disease,en,649,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17993,177904,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904,en,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17993,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17994,177907,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907,en,Prader-Willi syndrome due to translocation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17994,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17995,177910,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910,en,Prader-Willi syndrome due to imprinting mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17995,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,645,364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364,en,Glycogen storage disease due to glucose-6-phosphatase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,645,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,644,355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=355,en,Gaucher disease,en,1,10507,68367,Rare inborn errors of metabolism,en,644,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,647,388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388,en,Hirschsprung disease,en,1,12954,97935,Rare gastroenterologic disease,en,647,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,643,354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354,en,GM1 gangliosidosis,en,1,10507,68367,Rare inborn errors of metabolism,en,643,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18013,178320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178320,en,Acute lung injury,en,1,12974,97955,Rare respiratory disease,en,18013,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18012,178315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178315,en,Undifferentiated embryonal sarcoma of the liver,en,1,19592,250908,Rare neoplastic disease,en,18012,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18015,178333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178333,en,land Islands eye disease,en,1,12984,97966,Rare ophthalmic disorder,en,18015,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,671,760,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760,en,Purine nucleoside phosphorylase deficiency,en,1,13022,98004,Rare immune disease,en,671,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,664,270,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270,en,Oculopharyngeal muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,664,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18009,178303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178303,en,8q22.1 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18009,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,665,244,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244,en,Primary ciliary dyskinesia,en,1,12974,97955,Rare respiratory disease,en,665,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18008,178148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178148,en,Antenatal multiminicore disease with arthrogryposis multiplex congenita,en,1,13024,98006,Rare neurologic disease,en,18008,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18011,178311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178311,en,Isolated sternocostoclavicular hyperostosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,18011,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18010,178307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178307,en,Reticulate acropigmentation of Kitamura,en,1,11896,89826,Rare skin disease,en,18010,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,667,589,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589,en,Myasthenia gravis,en,1,13024,98006,Rare neurologic disease,en,667,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,660,805,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805,en,Tuberous sclerosis complex,en,1,12469,93890,Rare developmental defect during embryogenesis,en,660,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,662,886,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886,en,Usher syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,662,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18007,178145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145,en,Moderate multiminicore disease with hand involvement,en,1,13024,98006,Rare neurologic disease,en,18007,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,663,3440,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440,en,Waardenburg syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,663,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,656,702,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702,en,Pelizaeus-Merzbacher disease,en,1,13024,98006,Rare neurologic disease,en,656,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,659,791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791,en,Retinitis pigmentosa,en,1,12984,97966,Rare ophthalmic disorder,en,659,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,747,375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=375,en,Anti-glomerular basement membrane disease,en,1,13041,98023,Rare systemic or rheumatologic disease,en,747,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,745,183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183,en,Eosinophilic granulomatosis with polyangiitis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,745,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,744,1164,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1164,en,Allergic bronchopulmonary aspergillosis,en,1,12974,97955,Rare respiratory disease,en,744,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,751,2406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2406,en,Locked-in syndrome,en,1,13024,98006,Rare neurologic disease,en,751,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,750,509,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=509,en,Leptospirosis,en,1,10557,68416,Rare infectious disease,en,750,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,749,761,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761,en,Immunoglobulin A vasculitis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,749,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,748,2131,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2131,en,Alternating hemiplegia of childhood,en,1,13024,98006,Rare neurologic disease,en,748,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,739,713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713,en,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,739,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,738,57,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57,en,Glycogen storage disease due to aldolase A deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,738,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,743,249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=249,en,Fibrous dysplasia of bone,en,1,12333,93419,Rare bone disease,en,743,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,742,2334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2334,en,Autosomal dominant keratitis,en,1,12984,97966,Rare ophthalmic disorder,en,742,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,741,755,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755,en,Leydig cell hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,741,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17957,171929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171929,en,Trisomy 10p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17957,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,763,46,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46,en,Adenylosuccinate lyase deficiency,en,1,13024,98006,Rare neurologic disease,en,763,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,761,43,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43,en,X-linked adrenoleukodystrophy,en,1,10507,68367,Rare inborn errors of metabolism,en,761,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,766,3166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166,en,Sialuria,en,1,10507,68367,Rare inborn errors of metabolism,en,766,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,765,2882,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882,en,Sitosterolemia,en,1,10507,68367,Rare inborn errors of metabolism,en,765,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,754,810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=810,en,Shigellosis,en,1,10557,68416,Rare infectious disease,en,754,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,755,3165,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3165,en,Eosinophilic fasciitis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,755,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,752,2420,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2420,en,Primary pulmonary lymphoma,en,1,19592,250908,Rare neoplastic disease,en,752,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,753,727,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727,en,Microscopic polyangiitis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,753,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,759,900,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900,en,Granulomatosis with polyangiitis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,759,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,757,863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=863,en,Trichinellosis,en,1,10557,68416,Rare infectious disease,en,757,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17928,171695,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171695,en,Parkinsonian-pyramidal syndrome,en,1,13024,98006,Rare neurologic disease,en,17928,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,713,134,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134,en,Beta-ketothiolase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,713,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17929,171700,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171700,en,Diffuse panbronchiolitis,en,1,12974,97955,Rare respiratory disease,en,17929,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,715,984,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=984,en,Pulmonary agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17930,171703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703,en,Microcephaly-polymicrogyria-corpus callosum agenesis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17930,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17931,171706,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171706,en,Short stature-delayed bone age due to thyroid hormone metabolism deficiency,en,1,12996,97978,Rare endocrine disease,en,17931,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17932,171709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171709,en,Male infertility due to globozoospermia,en,1,13065,98047,Rare infertility,en,17932,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17934,171719,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171719,en,Cutis laxa-Marfanoid syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17934,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,719,1163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1163,en,Aspergillosis,en,1,10557,68416,Rare infectious disease,en,719,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17935,171723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723,en,White sponge nevus,en,1,11896,89826,Rare skin disease,en,17935,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,704,3467,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467,en,Hereditary xanthinuria,en,1,12456,93626,Rare renal disease,en,704,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17923,171673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171673,en,Limbal stem cell deficiency,en,1,12984,97966,Rare ophthalmic disorder,en,17923,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,708,511,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511,en,Maple syrup urine disease,en,1,10507,68367,Rare inborn errors of metabolism,en,708,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17925,171680,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680,en,Lissencephaly due to TUBA1A mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17925,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,711,32,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32,en,Glutathione synthetase deficiency,en,1,13010,97992,Rare hematologic disease,en,711,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17926,171684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171684,en,Idiopathic bilateral vestibulopathy,en,1,13054,98036,Rare otorhinolaryngologic disease,en,17926,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17927,171690,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171690,en,Metabolic myopathy due to lactate transporter defect,en,1,13024,98006,Rare neurologic disease,en,17927,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,710,26,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26,en,Methylmalonic acidemia with homocystinuria,en,1,10507,68367,Rare inborn errors of metabolism,en,710,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17945,171863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171863,en,Autosomal dominant spastic paraplegia type 42,en,1,13024,98006,Rare neurologic disease,en,17945,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17947,171871,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171871,en,Renal pseudohypoaldosteronism type 1,en,1,12456,93626,Rare renal disease,en,17947,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,730,322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322,en,Exstrophy-epispadias complex,en,1,12469,93890,Rare developmental defect during embryogenesis,en,730,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17946,171866,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866,en,"Spondyloepimetaphyseal dysplasia, aggrecan type",en,1,12333,93419,Rare bone disease,en,17946,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,731,2368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368,en,Gastroschisis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,731,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17949,171881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171881,en,Cap myopathy,en,1,13024,98006,Rare neurologic disease,en,17949,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,732,2512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512,en,Autosomal recessive primary microcephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,732,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17948,171876,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171876,en,Generalized pseudohypoaldosteronism type 1,en,1,12456,93626,Rare renal disease,en,17948,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17951,171889,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171889,en,Myopathy with hexagonally cross-linked tubular arrays,en,1,13024,98006,Rare neurologic disease,en,17951,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,735,797,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797,en,Sarcoidosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,735,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17950,171886,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171886,en,Cylindrical spirals myopathy,en,1,13024,98006,Rare neurologic disease,en,17950,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17936,171829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829,en,6q16 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17936,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,722,1201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201,en,Small bowel atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,722,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17939,171844,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844,en,Blindness-scoliosis-arachnodactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17939,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17938,171839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839,en,Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17938,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,723,1202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1202,en,Larynx atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,723,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,724,1199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1199,en,Esophageal atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,724,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17941,171851,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851,en,MEDNIK syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17941,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17940,171848,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848,en,Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,en,1,13024,98006,Rare neurologic disease,en,17940,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,725,1304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1304,en,Brucellosis,en,1,10557,68416,Rare infectious disease,en,725,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,726,173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=173,en,Cholera,en,1,10557,68416,Rare infectious disease,en,726,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,820,3303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3303,en,Tetralogy of Fallot,en,1,12469,93890,Rare developmental defect during embryogenesis,en,820,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18421,200418,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200418,en,Immunodeficiency with factor I anomaly,en,1,13022,98004,Rare immune disease,en,18421,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,823,730,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=730,en,Autosomal dominant polycystic kidney disease,en,1,12456,93626,Rare renal disease,en,823,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18422,200421,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200421,en,Immunodeficiency with factor H anomaly,en,1,13022,98004,Rare immune disease,en,18422,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,822,486,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486,en,Autosomal dominant severe congenital neutropenia,en,1,13022,98004,Rare immune disease,en,822,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,817,1209,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1209,en,Tricuspid atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,817,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18416,199647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199647,en,Isolated encephalocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18416,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,816,98,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98,en,Autosomal recessive spastic ataxia of Charlevoix-Saguenay,en,1,13024,98006,Rare neurologic disease,en,816,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,818,1478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1478,en,Interatrial communication,en,1,12469,93890,Rare developmental defect during embryogenesis,en,818,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,829,330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330,en,Congenital factor XII deficiency,en,1,13010,97992,Rare hematologic disease,en,829,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,828,1482,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1482,en,Gonococcal conjunctivitis,en,1,12984,97966,Rare ophthalmic disorder,en,828,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,831,1959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1959,en,Evans syndrome,en,1,13010,97992,Rare hematologic disease,en,831,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,830,284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284,en,Alveolar echinococcosis,en,1,10557,68416,Rare infectious disease,en,830,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,825,1177,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1177,en,Early-onset cerebellar ataxia with retained tendon reflexes,en,1,13024,98006,Rare neurologic disease,en,825,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,824,828,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828,en,Stickler syndrome,en,1,12333,93419,Rare bone disease,en,824,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,804,293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293,en,Congenital herpes simplex virus infection,en,1,12469,93890,Rare developmental defect during embryogenesis,en,804,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18405,199340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199340,en,"Muscular dystrophy, Selcen type",en,1,13024,98006,Rare neurologic disease,en,18405,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18404,199337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337,en,Pancreatic insufficiency-anemia-hyperostosis syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,18404,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,805,234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234,en,Dubin-Johnson syndrome,en,1,10772,57146,Rare hepatic disease,en,805,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18407,199348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348,en,Thiamine-responsive encephalopathy,en,1,13024,98006,Rare neurologic disease,en,18407,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,806,3287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3287,en,Takayasu arteritis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,806,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18406,199343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343,en,EAST syndrome,en,1,13024,98006,Rare neurologic disease,en,18406,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,807,2800,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2800,en,Extramammary Paget disease,en,1,19592,250908,Rare neoplastic disease,en,807,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18401,199326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326,en,"Isolated autosomal dominant hypomagnesemia, Glaudemans type",en,1,12456,93626,Rare renal disease,en,18401,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18400,199323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199323,en,Endophthalmitis,en,1,12984,97966,Rare ophthalmic disorder,en,18400,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,802,1928,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928,en,Congenital lobar emphysema,en,1,12469,93890,Rare developmental defect during embryogenesis,en,802,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18403,199332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332,en,Endocrine-cerebro-osteodysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18403,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18402,199329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199329,en,"Congenital myopathy, Paradas type",en,1,13024,98006,Rare neurologic disease,en,18402,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,803,2665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2665,en,Congenital mesoblastic nephroma,en,1,19592,250908,Rare neoplastic disease,en,803,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,812,3463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463,en,Wolfram syndrome,en,1,12996,97978,Rare endocrine disease,en,812,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18415,199642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199642,en,Isolated congenital microcephaly,en,1,13024,98006,Rare neurologic disease,en,18415,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,815,549,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=549,en,Legionnaires disease,en,1,10557,68416,Rare infectious disease,en,815,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,808,704,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=704,en,Pemphigus vulgaris,en,1,11896,89826,Rare skin disease,en,808,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18409,199354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199354,en,Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,en,1,13024,98006,Rare neurologic disease,en,18409,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18408,199351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351,en,Adult-onset dystonia-parkinsonism,en,1,13024,98006,Rare neurologic disease,en,18408,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,809,356,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356,en,Gerstmann-Straussler-Scheinker syndrome,en,1,13024,98006,Rare neurologic disease,en,809,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,810,466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466,en,Fatal familial insomnia,en,1,13024,98006,Rare neurologic disease,en,810,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18411,199630,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199630,en,Isolated cerebellar vermis hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18411,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18410,199627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199627,en,Atypical autism,en,1,13024,98006,Rare neurologic disease,en,18410,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18391,199293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199293,en,Congenital microgastria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18391,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,789,3452,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3452,en,Whipple disease,en,1,10557,68416,Rare infectious disease,en,789,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18388,199282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199282,en,Harlequin syndrome,en,1,13024,98006,Rare neurologic disease,en,18388,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18389,199285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199285,en,Hereditary hypercarotenemia and vitamin A deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,18389,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,788,2331,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2331,en,Kawasaki disease,en,1,13041,98023,Rare systemic or rheumatologic disease,en,788,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18386,199276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199276,en,Familial multiple lipomatosis,en,1,11896,89826,Rare skin disease,en,18386,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,787,2102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102,en,GTP cyclohydrolase I deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,787,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18387,199279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199279,en,Familial angiolipomatosis,en,1,11896,89826,Rare skin disease,en,18387,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18384,199260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199260,en,Calcifying aponeurotic fibroma,en,1,19592,250908,Rare neoplastic disease,en,18384,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,784,3002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3002,en,Immune thrombocytopenia,en,1,13010,97992,Rare hematologic disease,en,784,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18385,199267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199267,en,Infantile digital fibromatosis,en,1,19592,250908,Rare neoplastic disease,en,18385,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18398,199315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199315,en,Familial clubfoot with or without associated lower limb anomalies,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18398,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,798,2040,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040,en,Congenital respiratory-biliary fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,798,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18399,199318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318,en,15q13.3 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18399,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18396,199310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310,en,Tetragametic chimerism,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18396,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,797,2357,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2357,en,Bronchogenic cyst,en,1,12974,97955,Rare respiratory disease,en,797,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,796,274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=274,en,Bernard-Soulier syndrome,en,1,13010,97992,Rare hematologic disease,en,796,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,795,1195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195,en,Congenital atransferrinemia,en,1,13010,97992,Rare hematologic disease,en,795,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18394,199302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199302,en,Isolated cleft lip,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18394,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18395,199306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199306,en,Cleft lip/palate,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18395,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,794,926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926,en,Acatalasemia,en,1,10507,68367,Rare inborn errors of metabolism,en,794,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,793,3020,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3020,en,Ramsay Hunt syndrome,en,1,10557,68416,Rare infectious disease,en,793,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18392,199296,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199296,en,Congenital isolated ACTH deficiency,en,1,12996,97978,Rare endocrine disease,en,18392,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18393,199299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199299,en,Late-onset isolated ACTH deficiency,en,1,12996,97978,Rare endocrine disease,en,18393,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,774,1675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1675,en,Dihydropyrimidine dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,774,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18374,189427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189427,en,Cushing syndrome due to bilateral macronodular adrenocortical disease,en,1,12996,97978,Rare endocrine disease,en,18374,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,775,976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976,en,Adenine phosphoribosyltransferase deficiency,en,1,12456,93626,Rare renal disease,en,775,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,773,3129,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129,en,Sarcosinemia,en,1,10507,68367,Rare inborn errors of metabolism,en,773,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,770,415,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415,en,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,770,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,771,13,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13,en,6-pyruvoyl-tetrahydropterin synthase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,771,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,782,2494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2494,en,Mntrier disease,en,1,12954,97935,Rare gastroenterologic disease,en,782,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,783,171,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171,en,Primary sclerosing cholangitis,en,1,10772,57146,Rare hepatic disease,en,783,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18382,199251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199251,en,Ledderhose disease,en,1,11896,89826,Rare skin disease,en,18382,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18381,199247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199247,en,Corticosteroid-binding globulin deficiency,en,1,12996,97978,Rare endocrine disease,en,18381,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18380,199244,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199244,en,Nelson syndrome,en,1,12996,97978,Rare endocrine disease,en,18380,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18379,199241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199241,en,Pulmonary capillary hemangiomatosis,en,1,12974,97955,Rare respiratory disease,en,18379,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,779,2134,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134,en,Atypical hemolytic uremic syndrome,en,1,12456,93626,Rare renal disease,en,779,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18377,189466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189466,en,Familial isolated hypoparathyroidism due to impaired PTH secretion,en,1,12996,97978,Rare endocrine disease,en,18377,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,776,17,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17,en,Fatal infantile lactic acidosis with methylmalonic aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,776,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,880,3006,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006,en,Pyridoxine-dependent epilepsy,en,1,13024,98006,Rare neurologic disease,en,880,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,883,780,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=780,en,Rhabdomyosarcoma,en,1,19592,250908,Rare neoplastic disease,en,883,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,882,3111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111,en,Rotor syndrome,en,1,10772,57146,Rare hepatic disease,en,882,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,885,2382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382,en,Lennox-Gastaut syndrome,en,1,13024,98006,Rare neurologic disease,en,885,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,884,2806,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2806,en,Subacute sclerosing leukoencephalitis,en,1,13024,98006,Rare neurologic disease,en,884,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,889,1934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934,en,Early infantile epileptic encephalopathy,en,1,13024,98006,Rare neurologic disease,en,889,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,888,845,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845,en,Tay-Sachs disease,en,1,10507,68367,Rare inborn errors of metabolism,en,888,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,891,1942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1942,en,Myoclonic-astatic epilepsy,en,1,13024,98006,Rare neurologic disease,en,891,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,890,1935,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1935,en,Early myoclonic encephalopathy,en,1,13024,98006,Rare neurologic disease,en,890,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,892,1943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1943,en,Early-onset progressive encephalopathy with migrant continuous myoclonus,en,1,13024,98006,Rare neurologic disease,en,892,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,894,3451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3451,en,Infantile spasms syndrome,en,1,13024,98006,Rare neurologic disease,en,894,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,864,3299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3299,en,Tetanus,en,1,10557,68416,Rare infectious disease,en,864,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,865,2302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2302,en,Asbestos intoxication,en,1,12974,97955,Rare respiratory disease,en,865,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,866,770,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=770,en,Rabies,en,1,10557,68416,Rare infectious disease,en,866,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,867,3386,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3386,en,American trypanosomiasis,en,1,10557,68416,Rare infectious disease,en,867,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,870,267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=267,en,Calpain-3-related limb-girdle muscular dystrophy R1,en,1,13024,98006,Rare neurologic disease,en,870,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,871,1329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1329,en,Complete atrioventricular septal defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,871,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,872,582,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582,en,Mucopolysaccharidosis type 4,en,1,10507,68367,Rare inborn errors of metabolism,en,872,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,873,2137,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2137,en,Autoimmune hepatitis,en,1,10772,57146,Rare hepatic disease,en,873,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,874,186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=186,en,Primary biliary cholangitis,en,1,10772,57146,Rare hepatic disease,en,874,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,876,397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397,en,Giant cell arteritis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,876,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,877,2932,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2932,en,Chronic inflammatory demyelinating polyneuropathy,en,1,13024,98006,Rare neurologic disease,en,877,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,878,2398,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2398,en,Multiple symmetric lipomatosis,en,1,11896,89826,Rare skin disease,en,878,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,879,1656,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1656,en,Dermatitis herpetiformis,en,1,11896,89826,Rare skin disease,en,879,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,849,3198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3198,en,Stiff person spectrum disorder,en,1,13024,98006,Rare neurologic disease,en,849,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,848,2929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929,en,Juvenile polyposis syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,848,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,854,131,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=131,en,Budd-Chiari syndrome,en,1,10772,57146,Rare hepatic disease,en,854,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,853,646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646,en,Niemann-Pick disease type C,en,1,10507,68367,Rare inborn errors of metabolism,en,853,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,852,654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=654,en,Nephroblastoma,en,1,19592,250908,Rare neoplastic disease,en,852,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,859,1489,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1489,en,Whooping cough,en,1,10557,68416,Rare infectious disease,en,859,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,858,2764,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2764,en,Osteochondritis dissecans,en,1,12333,93419,Rare bone disease,en,858,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,857,2587,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2587,en,Myeloperoxidase deficiency,en,1,13022,98004,Rare immune disease,en,857,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,862,1679,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1679,en,Diphtheria,en,1,10557,68416,Rare infectious disease,en,862,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,861,1267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1267,en,Botulism,en,1,10557,68416,Rare infectious disease,en,861,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,860,2897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2897,en,Pityriasis rubra pilaris,en,1,11896,89826,Rare skin disease,en,860,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18305,183666,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183666,en,Hyper-IgM syndrome without susceptibility to opportunistic infections,en,1,13022,98004,Rare immune disease,en,18305,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,833,2070,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2070,en,Eosinophilic gastroenteritis,en,1,12954,97935,Rare gastroenterologic disease,en,833,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18304,183663,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183663,en,Hyper-IgM syndrome with susceptibility to opportunistic infections,en,1,13022,98004,Rare immune disease,en,18304,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,838,2312,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2312,en,Transient familial neonatal hyperbilirubinemia,en,1,10772,57146,Rare hepatic disease,en,838,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18311,183707,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183707,en,Neutrophil immunodeficiency syndrome,en,1,13022,98004,Rare immune disease,en,18311,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,839,2314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2314,en,Autosomal dominant hyper-IgE syndrome,en,1,13022,98004,Rare immune disease,en,839,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18309,183678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678,en,Hermansky-Pudlak syndrome due to AP-3 deficiency,en,1,13022,98004,Rare immune disease,en,18309,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,836,449,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449,en,Hepatoblastoma,en,1,19592,250908,Rare neoplastic disease,en,836,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18308,183675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183675,en,Recurrent infections associated with rare immunoglobulin isotypes deficiency,en,1,13022,98004,Rare immune disease,en,18308,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,837,2177,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2177,en,Hydranencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,837,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,842,533,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=533,en,Listeriosis,en,1,10557,68416,Rare infectious disease,en,842,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18313,183713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183713,en,Bacterial susceptibility due to TLR signaling pathway deficiency,en,1,13022,98004,Rare immune disease,en,18313,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,840,2372,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2372,en,Laryngocele,en,1,13054,98036,Rare otorhinolaryngologic disease,en,840,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,841,2380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2380,en,Legg-Calv-Perthes disease,en,1,12333,93419,Rare bone disease,en,841,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,846,683,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683,en,Progressive supranuclear palsy,en,1,13024,98006,Rare neurologic disease,en,846,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,844,677,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=677,en,Pancreatoblastoma,en,1,19592,250908,Rare neoplastic disease,en,844,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,959,897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897,en,Waardenburg-Shah syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,959,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,954,808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808,en,Seckel syndrome,en,1,12333,93419,Rare bone disease,en,954,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,950,844,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=844,en,Lown-Ganong-Levine syndrome,en,1,12948,97929,Rare cardiac disease,en,950,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,946,3027,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027,en,Caudal regression syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,946,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,937,676,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676,en,Hereditary chronic pancreatitis,en,1,12954,97935,Rare gastroenterologic disease,en,937,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,936,643,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643,en,Giant axonal neuropathy,en,1,13024,98006,Rare neurologic disease,en,936,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,938,634,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634,en,Netherton syndrome,en,1,11896,89826,Rare skin disease,en,938,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,933,140,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140,en,Campomelic dysplasia,en,1,12333,93419,Rare bone disease,en,933,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,932,2828,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2828,en,Young-onset Parkinson disease,en,1,13024,98006,Rare neurologic disease,en,932,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,935,642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642,en,Hereditary sensory and autonomic neuropathy type 4,en,1,13024,98006,Rare neurologic disease,en,935,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,931,627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627,en,Nance-Horan syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,931,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,930,638,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638,en,Neurofibromatosis-Noonan syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,930,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,926,326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=326,en,Congenital factor V deficiency,en,1,13010,97992,Rare hematologic disease,en,926,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,927,526,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=526,en,Liddle syndrome,en,1,12456,93626,Rare renal disease,en,927,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,924,650,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650,en,LCAT deficiency,en,1,12996,97978,Rare endocrine disease,en,924,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,925,427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=427,en,Familial hypoaldosteronism,en,1,12996,97978,Rare endocrine disease,en,925,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,923,215,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=215,en,Congenital stationary night blindness,en,1,12984,97966,Rare ophthalmic disorder,en,923,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,920,342,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342,en,Familial Mediterranean fever,en,1,13041,98023,Rare systemic or rheumatologic disease,en,920,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,921,180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180,en,Choroideremia,en,1,12984,97966,Rare ophthalmic disorder,en,921,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,916,327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=327,en,Congenital factor VII deficiency,en,1,13010,97992,Rare hematologic disease,en,916,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,912,373,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373,en,Simpson-Golabi-Behmel syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,912,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,913,403,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403,en,Familial hyperaldosteronism type I,en,1,12996,97978,Rare endocrine disease,en,913,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,910,574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574,en,21q deletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,910,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,906,653,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653,en,Multiple endocrine neoplasia type 2,en,1,19592,250908,Rare neoplastic disease,en,906,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,905,146,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=146,en,Differentiated thyroid carcinoma,en,1,19592,250908,Rare neoplastic disease,en,905,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,903,1331,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1331,en,Familial prostate cancer,en,1,19592,250908,Rare neoplastic disease,en,903,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,901,157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157,en,Carnitine palmitoyltransferase II deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,901,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,900,847,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847,en,Alpha-thalassemia-X-linked intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,900,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,896,1446,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1446,en,Ring chromosome 22 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,896,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1018,2268,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2268,en,ICF syndrome,en,1,13022,98004,Rare immune disease,en,1018,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1022,475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475,en,Joubert syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1022,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1023,392,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392,en,Holt-Oram syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1023,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1009,113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113,en,Bazex-Dupr-Christol syndrome,en,1,11896,89826,Rare skin disease,en,1009,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1010,86,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86,en,Familial abdominal aortic aneurysm,en,1,13046,98028,Rare circulatory system disease,en,1010,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1011,243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243,en,"46,XX gonadal dysgenesis",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1011,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1001,136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136,en,Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,en,1,13024,98006,Rare neurologic disease,en,1001,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1000,48,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48,en,Congenital bilateral absence of vas deferens,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1000,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18221,182127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182127,en,Extragonadal germinoma,en,1,19592,250908,Rare neoplastic disease,en,18221,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1007,528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528,en,Congenital generalized lipodystrophy,en,1,12996,97978,Rare endocrine disease,en,1007,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,993,275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275,en,Severe combined immunodeficiency due to DCLRE1C deficiency,en,1,13022,98004,Rare immune disease,en,993,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,996,184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184,en,Cherubism,en,1,12333,93419,Rare bone disease,en,996,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,998,71,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71,en,Chylomicron retention disease,en,1,12996,97978,Rare endocrine disease,en,998,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,990,1949,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1949,en,Benign familial neonatal epilepsy,en,1,13024,98006,Rare neurologic disease,en,990,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,991,189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189,en,Hidrotic ectodermal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,991,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,988,1473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473,en,Uveal coloboma-cleft lip and palate-intellectual disability,en,1,12469,93890,Rare developmental defect during embryogenesis,en,988,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,982,1344,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344,en,Atrial standstill,en,1,12948,97929,Rare cardiac disease,en,982,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18198,182050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050,en,MYH9-related disease,en,1,13010,97992,Rare hematologic disease,en,18198,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,971,3103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103,en,Roberts syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,971,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,968,709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709,en,Peters plus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,968,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,972,776,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=776,en,Lujan-Fryns syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,972,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,960,902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902,en,Werner syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,960,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,967,888,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888,en,Van der Woude syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,967,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,965,871,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=871,en,Familial progressive cardiac conduction defect,en,1,12948,97929,Rare cardiac disease,en,965,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1096,1597,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1597,en,Distal deletion 17q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1096,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1092,1590,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590,en,Distal deletion 13q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1092,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1090,1587,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587,en,Monosomy 13q14,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1090,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1115,1621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1621,en,3q13 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1115,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1114,1620,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620,en,Distal deletion 3p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1114,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1132,1643,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1643,en,Xp22.3 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1132,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1121,1627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1627,en,Deletion 5q35,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1121,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1150,1699,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1699,en,Trisomy 12p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1150,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1149,1695,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1695,en,Non-distal duplication 10q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1149,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1032,500,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500,en,Noonan syndrome with multiple lentigines,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1032,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1033,507,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=507,en,Leishmaniasis,en,1,10557,68416,Rare infectious disease,en,1033,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1036,548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=548,en,Leprosy,en,1,10557,68416,Rare infectious disease,en,1036,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1039,233,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233,en,Duane retraction syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,1039,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1030,2495,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2495,en,Meningioma,en,1,19592,250908,Rare neoplastic disease,en,1030,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1031,569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569,en,Familial or sporadic hemiplegic migraine,en,1,13024,98006,Rare neurologic disease,en,1031,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1043,240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240,en,Lri-Weill dyschondrosteosis,en,1,12333,93419,Rare bone disease,en,1043,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1042,2311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311,en,Autosomal recessive spondylocostal dysostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1042,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1045,358,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=358,en,Gitelman syndrome,en,1,12456,93626,Rare renal disease,en,1045,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1044,242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242,en,"46,XY complete gonadal dysgenesis",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1044,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1046,2052,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052,en,Fraser syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1046,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1070,1354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354,en,Heart defects-limb shortening syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1070,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1071,1358,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358,en,Carey-Fineman-Ziter syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1071,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1059,111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111,en,Barth syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,1059,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1056,10,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10,en,"48,XXYY syndrome",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1056,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1062,1308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308,en,C syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1062,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1063,150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=150,en,Nasopharyngeal carcinoma,en,1,19592,250908,Rare neoplastic disease,en,1063,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1061,133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=133,en,Chronic beryllium disease,en,1,12974,97955,Rare respiratory disease,en,1061,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1082,1552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552,en,Currarino syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1082,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1081,1450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1450,en,Ring chromosome 8 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1081,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1080,1448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1448,en,Ring chromosome 6 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1080,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1086,1581,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1581,en,Non-distal deletion 10q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1086,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1085,1580,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1580,en,Distal deletion 10p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1085,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1075,1437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1437,en,Ring chromosome 1 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1075,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1073,172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172,en,Progressive familial intrahepatic cholestasis,en,1,10772,57146,Rare hepatic disease,en,1073,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1079,1447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1447,en,Ring chromosome 4 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1079,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1078,1444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1444,en,Ring chromosome 20 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1078,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1077,1439,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1439,en,Ring chromosome 12 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1077,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1076,1438,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438,en,Ring chromosome 10 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1076,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1222,624,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624,en,Familial multiple nevi flammei,en,1,11896,89826,Rare skin disease,en,1222,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1228,3306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3306,en,Inverted duplicated chromosome 15 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1228,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1231,3375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375,en,Trisomy X,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1231,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1230,3310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3310,en,Tetrasomy 9p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1230,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1225,3000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3000,en,Familial peripheral male-limited precocious puberty,en,1,12996,97978,Rare endocrine disease,en,1225,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1227,3305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3305,en,Tetraploidy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1227,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1226,3176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176,en,Spina bifida-hypospadias syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1226,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1236,1708,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1708,en,Mosaic trisomy 16,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1236,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1237,1711,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1711,en,Mosaic trisomy 17,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1237,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1232,3376,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376,en,Triploidy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1232,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1233,1692,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1692,en,Mosaic trisomy 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1233,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1234,1698,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1698,en,Mosaic trisomy 12,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1234,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1235,1706,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1706,en,Mosaic trisomy 15,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1235,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1244,916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916,en,Aase-Smith syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1244,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1247,920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920,en,Ablepharon macrostomia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1247,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1241,1445,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1445,en,Ring chromosome 21 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1241,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1242,7,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7,en,3C syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1242,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1255,931,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931,en,Acheiropodia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1255,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1254,929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=929,en,Achalasia-microcephaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1254,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1253,869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869,en,Triple A syndrome,en,1,12996,97978,Rare endocrine disease,en,1253,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1251,2297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2297,en,Insulin-resistance syndrome type A,en,1,12996,97978,Rare endocrine disease,en,1251,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1249,922,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=922,en,Familial nasal acilia,en,1,13054,98036,Rare otorhinolaryngologic disease,en,1249,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1248,921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921,en,Abruzzo-Erickson syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1248,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1263,27,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27,en,Vitamin B12-unresponsive methylmalonic acidemia,en,1,10507,68367,Rare inborn errors of metabolism,en,1263,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1260,939,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=939,en,3-hydroxyisobutyric aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,1260,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1259,31,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31,en,Oxoglutaric aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,1259,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1258,935,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=935,en,Short-limb skeletal dysplasia with severe combined immunodeficiency,en,1,13022,98004,Rare immune disease,en,1258,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1256,932,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=932,en,Achondrogenesis,en,1,12333,93419,Rare bone disease,en,1256,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1270,1795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1795,en,Peripheral dysostosis,en,1,12333,93419,Rare bone disease,en,1270,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1268,37,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37,en,Acrodermatitis enteropathica,en,1,11896,89826,Rare skin disease,en,1268,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1269,950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950,en,Acrodysostosis,en,1,12333,93419,Rare bone disease,en,1269,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1267,949,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=949,en,Acrocraniofacial dysostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1267,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1264,945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=945,en,Acalvaria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1264,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1278,957,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957,en,Acropectorovertebral dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1278,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1279,958,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=958,en,Acro-renal-mandibular syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1279,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1276,955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955,en,Hajdu-Cheney syndrome,en,1,12333,93419,Rare bone disease,en,1276,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1272,952,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952,en,"Acrofacial dysostosis, Weyers type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1272,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1153,1702,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1702,en,Non-distal duplication 13q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1153,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1154,1703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1703,en,Mosaic trisomy 14,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1154,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1156,1705,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705,en,Distal duplication 14q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1156,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1160,1713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1713,en,17p11.2 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1160,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1174,1738,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1738,en,Trisomy 4p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1174,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1178,1742,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742,en,Trisomy 5p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1178,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1181,1745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1745,en,Distal duplication 6p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1181,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1186,1752,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1752,en,Trisomy 8q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1186,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1190,1762,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762,en,Proximal Xq28 duplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1190,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1195,1878,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1878,en,TRIM32-related limb-girdle muscular dystrophy R8,en,1,13024,98006,Rare neurologic disease,en,1195,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1193,1876,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876,en,Oculogastrointestinal muscular dystrophy,en,1,12954,97935,Rare gastroenterologic disease,en,1193,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1199,1948,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1948,en,Epilepsy-microcephaly-skeletal dysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1199,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1198,1946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946,en,Amelocerebrohypohidrotic syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1198,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1201,1951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1951,en,Epilepsy-telangiectasia syndrome,en,1,13024,98006,Rare neurologic disease,en,1201,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1206,381,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381,en,Griscelli syndrome,en,1,11896,89826,Rare skin disease,en,1206,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1209,2604,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2604,en,Familial visceral myopathy,en,1,12954,97935,Rare gastroenterologic disease,en,1209,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1215,156,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156,en,Carnitine palmitoyl transferase 1A deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,1215,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1212,2597,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597,en,Mitochondrial myopathy-lactic acidosis-deafness syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,1212,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1213,2598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598,en,Mitochondrial myopathy and sideroblastic anemia,en,1,10507,68367,Rare inborn errors of metabolism,en,1213,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1372,1078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078,en,Thumb stiffness-brachydactyly-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1372,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1371,1077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1077,en,Dental ankylosis,en,1,13044,98026,Rare odontologic disease,en,1371,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1368,1074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074,en,Ankyloblepharon filiforme adnatum-imperforate anus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1368,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1366,1072,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072,en,Ankyloblepharon filiforme adnatum-cleft palate syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1366,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1365,1071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071,en,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1365,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1364,1069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069,en,Aniridia-absent patella syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1364,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1363,1068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068,en,Aniridia-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1363,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1362,1067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067,en,Aniridia-ptosis-intellectual disability-familial obesity syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1362,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1360,1064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064,en,Aniridia-renal agenesis-psychomotor retardation syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1360,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1359,1062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062,en,Hereditary neurocutaneous malformation,en,1,13024,98006,Rare neurologic disease,en,1359,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1352,1053,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053,en,Vein of Galen aneurysmal malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1352,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1353,1055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1055,en,Congenital left ventricular aneurysm,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1353,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1351,1052,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052,en,Mosaic variegated aneuploidy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1351,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1346,1040,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040,en,Metaphyseal anadysplasia,en,1,12333,93419,Rare bone disease,en,1346,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1347,1041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1041,en,Hydrops fetalis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1347,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1405,1126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1126,en,Aprosencephaly cerebellar dysgenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1405,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1404,1125,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1125,en,"Ocular motor apraxia, Cogan type",en,1,12984,97966,Rare ophthalmic disorder,en,1404,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1401,1121,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121,en,Radial deficiency-tibial hypoplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1401,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1400,1120,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1120,en,Lung agenesis-heart defect-thumb anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1400,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1402,1122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122,en,Ulnar hypoplasia-split foot syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1402,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1397,1116,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116,en,Aplasia cutis congenita-intestinal lymphangiectasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1397,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1399,1118,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118,en,Fibular aplasia-ectrodactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1399,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1398,1117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117,en,Aplasia cutis-myopia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1398,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1392,1110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1110,en,Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1392,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1395,1113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113,en,Aphalangy-syndactyly-microcephaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1395,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1394,1112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112,en,Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1394,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1388,1106,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106,en,Microphthalmia with limb anomalies,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1388,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1391,83,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83,en,Antley-Bixler syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1391,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1387,1104,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1104,en,Anophthalmia plus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1387,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1380,1094,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1094,en,Anonychia-microcephaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1380,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1306,991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991,en,PAGOD syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1306,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1305,990,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=990,en,Agnathia-holoprosencephaly-situs inversus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1305,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1304,989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989,en,Hypoglossia-hypodactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1304,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1310,994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994,en,Fetal akinesia deformation sequence,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1310,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1309,51,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51,en,Aicardi-Goutires syndrome,en,1,13024,98006,Rare neurologic disease,en,1309,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1299,981,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=981,en,Internal carotid absence,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1299,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1297,978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978,en,ADULT syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1297,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1296,977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=977,en,Adrenomyodystrophy,en,1,12996,97978,Rare endocrine disease,en,1296,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1303,988,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=988,en,Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1303,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1300,983,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983,en,Testicular regression syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1300,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1290,970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=970,en,Hereditary sensory and autonomic neuropathy type 2,en,1,13024,98006,Rare neurologic disease,en,1290,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1291,971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971,en,Acrorenal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1291,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1288,40,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40,en,"Acromesomelic dysplasia, Maroteaux type",en,1,12333,93419,Rare bone disease,en,1288,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1289,969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=969,en,Acromicric dysplasia,en,1,12333,93419,Rare bone disease,en,1289,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1294,974,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974,en,Adams-Oliver syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1294,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1292,972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=972,en,Hereditary continuous muscle fiber activity,en,1,13024,98006,Rare neurologic disease,en,1292,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1293,973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=973,en,"Congenital absence/hypoplasia of fingers excluding thumb, unilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1293,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1280,959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=959,en,Acro-renal-ocular syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1280,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1287,968,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=968,en,"Acromesomelic dysplasia, Hunter-Thompson type",en,1,12333,93419,Rare bone disease,en,1287,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16888,139411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139411,en,Carney triad,en,1,19592,250908,Rare neoplastic disease,en,16888,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16889,139414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139414,en,Congenital panfollicular nevus,en,1,11896,89826,Rare skin disease,en,16889,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1336,1028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1028,en,Amelo-onycho-hypohidrotic syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1336,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16890,139417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139417,en,Acute transverse myelitis,en,1,13024,98006,Rare neurologic disease,en,16890,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1339,1031,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031,en,Enamel-renal syndrome,en,1,12456,93626,Rare renal disease,en,1339,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16892,139423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139423,en,Idiopathic acute transverse myelitis,en,1,13024,98006,Rare neurologic disease,en,16892,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16893,139426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139426,en,Perioral myoclonia with absences,en,1,13024,98006,Rare neurologic disease,en,16893,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16894,139431,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139431,en,Jeavons syndrome,en,1,13024,98006,Rare neurologic disease,en,16894,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1342,1035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1035,en,Beta-mercaptolactate cysteine disulfiduria,en,1,10507,68367,Rare inborn errors of metabolism,en,1342,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16895,139436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139436,en,Multicentric reticulohistiocytosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,16895,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1329,1021,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021,en,Amaurosis-hypertrichosis syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,1329,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1328,64,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64,en,Alstrm syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1328,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1331,1023,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023,en,"Congenital generalized hypertrichosis, Ambras type",en,1,11896,89826,Rare skin disease,en,1331,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16884,139396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396,en,X-linked cerebral adrenoleukodystrophy,en,1,10507,68367,Rare inborn errors of metabolism,en,16884,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16885,139399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399,en,Adrenomyeloneuropathy,en,1,10507,68367,Rare inborn errors of metabolism,en,16885,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16886,139402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139402,en,Drug reaction with eosinophilia and systemic symptoms,en,1,11896,89826,Rare skin disease,en,16886,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1335,1027,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1027,en,Autosomal recessive amelia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1335,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16887,139406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406,en,Encephalopathy due to prosaposin deficiency,en,1,13024,98006,Rare neurologic disease,en,16887,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1320,1008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1008,en,Alopecia-epilepsy-pyorrhea-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1320,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1321,701,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=701,en,Alopecia universalis,en,1,11896,89826,Rare skin disease,en,1321,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1323,1010,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010,en,Autosomal dominant palmoplantar keratoderma and congenital alopecia,en,1,11896,89826,Rare skin disease,en,1323,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1327,1014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014,en,Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1327,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1313,1001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001,en,2q37 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1313,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1315,59,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59,en,Allan-Herndon-Dudley syndrome,en,1,13024,98006,Rare neurologic disease,en,1315,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1316,1003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003,en,Scalp defects-postaxial polydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1316,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1318,1005,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005,en,Alopecia-contractures-dwarfism-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1318,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1494,1253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253,en,Ascher syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1494,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1493,1252,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252,en,Blepharonasofacial malformation syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1493,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1490,1248,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248,en,Maxillonasal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1490,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1502,127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127,en,Borjeson-Forssman-Lehmann syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1502,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1503,1264,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264,en,Tricho-retino-dento-digital syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1503,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1500,1262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1262,en,Bk syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1500,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1501,1263,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263,en,Boomerang dysplasia,en,1,12333,93419,Rare bone disease,en,1501,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1498,1259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1259,en,Blepharoptosis-myopia-ectopia lentis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1498,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1499,1261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1261,en,Bonnemann-Meinecke-Reich syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1499,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1478,1234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234,en,Bartsocas-Papas syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1478,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1476,1231,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231,en,Barber-Say syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1476,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1474,1229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229,en,Congenital intrauterine infection-like syndrome,en,1,13024,98006,Rare neurologic disease,en,1474,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1473,109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109,en,Bannayan-Riley-Ruvalcaba syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1473,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1472,1228,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1228,en,Banki syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1472,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1487,1241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1241,en,Bencze syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1487,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1486,1240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1240,en,Metaphyseal acroscyphodysplasia,en,1,12333,93419,Rare bone disease,en,1486,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1483,1237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1237,en,Beemer-Ertbruggen syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1483,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1482,114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114,en,Auriculoosteodysplasia,en,1,12333,93419,Rare bone disease,en,1482,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1481,115,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115,en,Congenital contractural arachnodactyly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1481,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1480,1236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1236,en,Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1480,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16693,137622,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622,en,Intractable diarrhea-choanal atresia-eye anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16693,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16692,137617,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137617,en,Nephrogenic systemic fibrosis,en,1,11896,89826,Rare skin disease,en,16692,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1525,1292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292,en,Brachymorphism-onychodysplasia-dysphalangism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1525,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16695,137628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137628,en,Cardiac anomalies-heterotaxy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16695,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16694,137625,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625,en,Glycogen storage disease due to muscle and heart glycogen synthase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,16694,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16690,137608,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608,en,Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16690,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1533,1299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299,en,Branchioskeletogenital syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1533,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16703,137672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137672,en,Pellucid marginal degeneration,en,1,12984,97966,Rare ophthalmic disorder,en,16703,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1534,1300,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300,en,Autosomal dominant popliteal pterygium syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1534,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16702,137667,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137667,en,Capillary malformation-arteriovenous malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16702,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16697,137634,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634,en,Overgrowth-macrocephaly-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16697,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1528,1295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295,en,Brachytelephalangy-dysmorphism-Kallmann syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1528,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16696,137631,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631,en,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",en,1,12974,97955,Rare respiratory disease,en,16696,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1529,1296,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296,en,Lambert syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1529,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1530,1297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297,en,Branchio-oculo-facial syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1530,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16698,137639,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137639,en,Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,en,1,13024,98006,Rare neurologic disease,en,16698,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16677,137577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137577,en,Neonatal hypoxic and ischemic brain injury,en,1,13024,98006,Rare neurologic disease,en,16677,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16678,137583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137583,en,Vulvar intraepithelial neoplasia,en,1,19592,250908,Rare neoplastic disease,en,16678,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1511,1276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276,en,Brachydactyly-arterial hypertension syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1511,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1510,1275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275,en,Brachydactyly-elbow wrist dysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1510,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1506,1270,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270,en,Bowen-Conradi syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1506,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16684,137605,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605,en,Legius syndrome,en,1,11896,89826,Rare skin disease,en,16684,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16680,137593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137593,en,Infectious epithelial keratitis,en,1,12984,97966,Rare ophthalmic disorder,en,16680,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16681,137596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137596,en,Neurotrophic keratopathy,en,1,12984,97966,Rare ophthalmic disorder,en,16681,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1512,1278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278,en,Brachydactyly-preaxial hallux varus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1512,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16682,137599,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137599,en,Herpes simplex virus stromal keratitis,en,1,12984,97966,Rare ophthalmic disorder,en,16682,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16683,137602,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137602,en,Corneal endotheliitis,en,1,12984,97966,Rare ophthalmic disorder,en,16683,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1426,1166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1166,en,Congenital unilateral hypoplasia of depressor anguli oris,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1426,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1427,1168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168,en,Ataxia-oculomotor apraxia type 1,en,1,13024,98006,Rare neurologic disease,en,1427,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16722,137820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137820,en,Extrapelvic endometriosis,en,1,12845,96344,Rare gynecologic or obstetric disease,en,16722,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1424,1160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1160,en,Chylous ascites,en,1,17578,165711,Rare abdominal surgical disease,en,1424,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16721,137817,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137817,en,Arachnoiditis,en,1,13024,98006,Rare neurologic disease,en,16721,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16720,137814,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137814,en,Macular amyloidosis,en,1,11896,89826,Rare skin disease,en,16720,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1431,1174,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1174,en,Cerebellar ataxia-ectodermal dysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1431,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16726,137839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137839,en,Lemierre syndrome,en,1,10557,68416,Rare infectious disease,en,16726,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16725,137834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834,en,Frank-Ter Haar syndrome,en,1,12333,93419,Rare bone disease,en,16725,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16724,137831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831,en,X-linked intellectual disability-cerebellar hypoplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16724,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1429,1170,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170,en,Autosomal recessive cerebelloparenchymal disorder type 3,en,1,13024,98006,Rare neurologic disease,en,1429,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1435,1178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1178,en,Ataxia-tapetoretinal degeneration syndrome,en,1,13024,98006,Rare neurologic disease,en,1435,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1433,1175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1175,en,X-linked progressive cerebellar ataxia,en,1,13024,98006,Rare neurologic disease,en,1433,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1438,1180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180,en,Ataxia-hypogonadism-choroidal dystrophy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1438,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1436,1179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1179,en,Benign paroxysmal tonic upgaze of childhood with ataxia,en,1,13024,98006,Rare neurologic disease,en,1436,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1437,1173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173,en,Cerebellar ataxia-hypogonadism syndrome,en,1,13024,98006,Rare neurologic disease,en,1437,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16732,137867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137867,en,Madras motor neuron disease,en,1,13024,98006,Rare neurologic disease,en,16732,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16706,137681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681,en,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,en,1,10507,68367,Rare inborn errors of metabolism,en,16706,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1409,1133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133,en,AREDYLD syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1409,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16704,137675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675,en,Histiocytoid cardiomyopathy,en,1,12948,97929,Rare cardiac disease,en,16704,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1408,1131,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131,en,X-linked mandibulofacial dysostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1408,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16705,137678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678,en,Spondyloepiphyseal dysplasia with metatarsal shortening,en,1,12333,93419,Rare bone disease,en,16705,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16710,137698,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137698,en,Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk,en,1,10557,68416,Rare infectious disease,en,16710,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16711,137754,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754,en,Neurological conditions associated with aminoacylase 1 deficiency,en,1,13024,98006,Rare neurologic disease,en,16711,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1414,1145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145,en,Infantile-onset X-linked spinal muscular atrophy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1414,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1413,1144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1144,en,Arthrogryposis-like hand anomaly-sensorineural deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1413,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16708,137686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137686,en,Asherman syndrome,en,1,12845,96344,Rare gynecologic or obstetric disease,en,16708,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16715,137776,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137776,en,Lethal congenital contracture syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1417,1150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1150,en,Arthrogryposis multiplex congenita-whistling face syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1417,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1416,1149,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1149,en,Kuskokwim syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1416,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1423,1159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159,en,Progressive pseudorheumatoid arthropathy of childhood,en,1,12333,93419,Rare bone disease,en,1423,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16719,137810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137810,en,Nodular cutaneous amyloidosis,en,1,11896,89826,Rare skin disease,en,16719,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16716,137783,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137783,en,Lethal congenital contracture syndrome type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16716,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1460,1214,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1214,en,Progressive hemifacial atrophy,en,1,13024,98006,Rare neurologic disease,en,1460,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1461,1215,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215,en,Autosomal dominant optic atrophy plus syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,1461,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1462,1216,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1216,en,Autosomal dominant congenital benign spinal muscular atrophy,en,1,13024,98006,Rare neurologic disease,en,1462,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1466,1221,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1221,en,Cheilitis glandularis,en,1,11896,89826,Rare skin disease,en,1466,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1469,1225,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225,en,Baller-Gerold syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1469,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1470,1226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226,en,Bamforth-Lazarus syndrome,en,1,12996,97978,Rare endocrine disease,en,1470,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1471,1227,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1227,en,Bangstad syndrome,en,1,12996,97978,Rare endocrine disease,en,1471,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1441,1184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1184,en,Ataxia-photosensitivity-short stature syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1441,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1440,1182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1182,en,Spastic ataxia with congenital miosis,en,1,13024,98006,Rare neurologic disease,en,1440,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16737,137888,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888,en,Auriculocondylar syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16737,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16738,137893,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137893,en,Male infertility due to large-headed multiflagellar polyploid spermatozoa,en,1,13065,98047,Rare infertility,en,16738,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1443,1186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186,en,Infantile-onset spinocerebellar ataxia,en,1,13024,98006,Rare neurologic disease,en,1443,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1442,1185,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1185,en,Spinocerebellar ataxia-dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1442,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16739,137898,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898,en,Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16739,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1445,1188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188,en,Ataxia-deafness-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1445,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1444,1187,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187,en,Lethal ataxia with deafness and optic atrophy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1444,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1447,1190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190,en,Atelosteogenesis type I,en,1,12333,93419,Rare bone disease,en,1447,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16742,137908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137908,en,Hypotonia with lactic acidemia and hyperammonemia,en,1,10507,68367,Rare inborn errors of metabolism,en,16742,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16744,137914,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137914,en,Choanal atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16744,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1449,1193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1193,en,Atkin-Flaitz syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1449,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16745,137917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137917,en,"Choanal atresia, unilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,16745,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1451,1200,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200,en,Burn-McKeown syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1451,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16746,137920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137920,en,"Choanal atresia, bilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,16746,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1450,1198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1198,en,Colonic atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1450,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16748,137926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137926,en,Primary laryngeal lymphangioma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16748,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16749,137929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137929,en,Neonatal brainstem dysfunction,en,1,13024,98006,Rare neurologic disease,en,16749,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1452,1203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1203,en,Duodenal atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1452,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1455,1208,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208,en,Pulmonary atresia-intact ventricular septum syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1455,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16750,137932,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137932,en,Congenital laryngeal palsy,en,1,13054,98036,Rare otorhinolaryngologic disease,en,16750,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16751,137935,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935,en,Laryngotracheal angioma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16751,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1642,1449,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1449,en,Ring chromosome 7 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1642,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17067,141242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141242,en,Paramedian nasal cleft,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17067,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1643,1453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1453,en,Cleidorhizomelic syndrome,en,1,12333,93419,Rare bone disease,en,1643,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17066,141239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141239,en,Median cleft of the upper lip and maxilla,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17066,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1640,1440,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1440,en,Ring chromosome 14 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1640,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1641,1443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1443,en,Ring chromosome 19 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1641,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17071,141261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141261,en,Tessier number 5 facial cleft,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17071,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17070,141258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258,en,Tessier number 4 facial cleft,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17070,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1647,1458,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458,en,CODAS syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1647,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1644,1454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454,en,Joubert syndrome with hepatic defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1644,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1645,190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190,en,Coats disease,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1645,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17059,141199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141199,en,Cerebrofacial arteriovenous metameric syndrome type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17059,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1634,1429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1429,en,Benign hereditary chorea,en,1,13024,98006,Rare neurologic disease,en,1634,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17058,141194,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141194,en,Cerebrofacial arteriovenous metameric syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17058,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1632,1426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426,en,Greenberg dysplasia,en,1,12333,93419,Rare bone disease,en,1632,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17056,141184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141184,en,Rapidly involuting congenital hemangioma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17056,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1633,1427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427,en,Otospondylomegaepiphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,1633,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1638,1435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435,en,Xq21 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1638,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17063,141219,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141219,en,Nasal dorsum fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17063,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1639,1436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436,en,X-linked skeletal dysplasia-intellectual disability syndrome,en,1,12333,93419,Rare bone disease,en,1639,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17062,141214,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141214,en,Isolated congenital syngnathia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17062,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17061,141209,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141209,en,Diffuse lymphatic malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17061,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1637,1433,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433,en,Choroidal atrophy-alopecia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1637,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1659,1484,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484,en,Contractures-ectodermal dysplasia-cleft lip/palate syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1659,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17080,141333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333,en,Biemond syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17080,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17086,155878,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155878,en,Submucosal cleft palate,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17086,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1663,1490,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490,en,Corneal dystrophy-perceptive deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1663,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1662,1487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487,en,Cooks syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1662,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17084,155838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155838,en,Pinnae fistula or cyst,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17084,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1660,1486,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486,en,Lethal congenital contracture syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1660,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17074,141276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141276,en,Tessier number 7 facial cleft,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17074,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17072,141265,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141265,en,Tessier number 6 facial cleft,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17072,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1649,1466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466,en,COFS syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1649,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17078,141327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141327,en,Orofaciodigital syndrome type 12,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17078,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17079,141330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141330,en,Orofaciodigital syndrome type 13,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17079,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1654,1471,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1471,en,Coloboma of macula-brachydactyly type B syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1654,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17076,141288,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141288,en,Midline cervical cleft,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17076,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17077,141291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141291,en,Cleft lip and alveolus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17077,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17033,141091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141091,en,Polyrrhinia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17033,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17032,141083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083,en,Nasolacrimal duct cyst,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17032,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1610,1410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410,en,Uncombable hair syndrome,en,1,11896,89826,Rare skin disease,en,1610,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17035,141099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141099,en,Proboscis lateralis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17035,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17034,141096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141096,en,Supernumerary nostril,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17034,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1612,1412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412,en,Tarsal-carpal coalition syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1612,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17037,141107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141107,en,Nasopharyngeal teratoma,en,1,13054,98036,Rare otorhinolaryngologic disease,en,17037,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17036,141103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141103,en,Nasal dermoid cyst,en,1,13054,98036,Rare otorhinolaryngologic disease,en,17036,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17039,141115,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141115,en,Nasal ganglioglioma,en,1,13054,98036,Rare otorhinolaryngologic disease,en,17039,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1614,1416,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416,en,Familial calcium pyrophosphate deposition,en,1,13041,98023,Rare systemic or rheumatologic disease,en,1614,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17038,141112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141112,en,Nasal glial heterotopia,en,1,13054,98036,Rare otorhinolaryngologic disease,en,17038,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1600,1394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394,en,Cerebrofaciothoracic dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1600,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17024,141051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141051,en,Facial dermoid cyst,en,1,13054,98036,Rare otorhinolaryngologic disease,en,17024,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17027,141064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141064,en,Lower lip fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17027,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17026,141061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141061,en,Commissural lip fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17026,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17029,141071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141071,en,Digestive duplication cyst of the tongue,en,1,13054,98036,Rare otorhinolaryngologic disease,en,17029,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1604,1397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397,en,Hydrocephaly-cerebellar agenesis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1604,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17028,141067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141067,en,Cervicofacial fibrochondroma,en,1,10468,68329,Rare maxillo-facial surgical disease,en,17028,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1605,1398,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1398,en,Isolated cerebellar agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1605,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1606,1399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399,en,Richards-Rundle syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1606,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17031,141077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141077,en,Epignathus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17031,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1607,1401,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401,en,CHAND syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1607,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17030,141074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141074,en,External auditory canal aplasia/hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17030,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17048,141152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141152,en,Isolated congenital hypoglossia/aglossia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17048,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1624,174,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174,en,"Metaphyseal chondrodysplasia, Schmid type",en,1,12333,93419,Rare bone disease,en,1624,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17051,141163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163,en,Glossopalatine ankylosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17051,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17052,141168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141168,en,Frontonasal arteriovenous malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17052,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17053,141171,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141171,en,Maxillary arteriovenous malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17053,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1631,1425,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425,en,Desbuquois syndrome,en,1,12333,93419,Rare bone disease,en,1631,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17054,141174,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141174,en,Mandibular arteriovenous malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17054,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17055,141179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141179,en,Non-involuting congenital hemangioma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17055,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17040,141118,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118,en,Nasal encephalocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17040,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17041,141121,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141121,en,Congenital subglottic stenosis,en,1,13054,98036,Rare otorhinolaryngologic disease,en,17041,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17042,141124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141124,en,Congenital laryngeal cyst,en,1,13054,98036,Rare otorhinolaryngologic disease,en,17042,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17043,141127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141127,en,Congenital tracheal stenosis,en,1,13054,98036,Rare otorhinolaryngologic disease,en,17043,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17044,141132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132,en,Oculo-auriculo-vertebral spectrum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17044,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17046,141145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141145,en,Hemifacial hyperplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17046,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17047,141148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141148,en,Hemifacial myohyperplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17047,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17135,156728,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156728,en,"Spondyloepimetaphyseal dysplasia, matrilin-3 type",en,1,12333,93419,Rare bone disease,en,17135,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1582,1375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375,en,Cataract-hypertrichosis-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1582,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1580,163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163,en,Hereditary hyperferritinemia-cataract syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,1580,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1579,1373,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1373,en,Cataract-aberrant oral frenula-growth delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1579,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1575,1368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368,en,Cataract-ataxia-deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1575,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1573,1366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366,en,Autosomal recessive palmoplantar keratoderma and congenital alopecia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1573,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1569,1361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1361,en,Carnosinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,1569,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1599,1393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393,en,Cerebrocostomandibular syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1599,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17150,157823,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157823,en,Klver-Bucy syndrome,en,1,10557,68416,Rare infectious disease,en,17150,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17151,157826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157826,en,Congenital epulis,en,1,19592,250908,Rare neoplastic disease,en,17151,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17148,157808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157808,en,Congenital pseudoarthrosis of the limbs,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17148,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1596,1390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1390,en,Night blindness-skeletal anomalies-dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1596,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17149,157820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157820,en,Cold-induced sweating syndrome,en,1,13024,98006,Rare neurologic disease,en,17149,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1595,1389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1389,en,Cortical blindness-intellectual disability-polydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1595,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17146,157798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798,en,Serrated polyposis syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,17146,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1594,1388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388,en,Catel-Manzke syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1594,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17147,157801,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801,en,Mesoaxial synostotic syndactyly with phalangeal reduction,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17147,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1593,1387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387,en,Cataract-intellectual disability-hypogonadism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1593,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17144,157791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157791,en,Epithelioid hemangioendothelioma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17144,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17145,157794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794,en,Hereditary mixed polyposis syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,17145,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17142,157769,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769,en,Situs ambiguus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17142,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17140,157716,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157716,en,Late infantile CACH syndrome,en,1,13024,98006,Rare neurologic disease,en,17140,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1588,1381,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381,en,Cataract-intellectual disability-anal atresia-urinary defects syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1588,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17141,157719,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157719,en,Juvenile or adult CACH syndrome,en,1,13024,98006,Rare neurologic disease,en,17141,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1587,1380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1380,en,Cataract-nephropathy-encephalopathy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1587,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17139,157713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157713,en,Congenital or early infantile CACH syndrome,en,1,13024,98006,Rare neurologic disease,en,17139,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17136,156731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156731,en,"Dyssegmental dysplasia, Rolland-Desbuquois type",en,1,12333,93419,Rare bone disease,en,17136,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1584,1377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1377,en,Cataract-microcornea syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1584,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17137,157215,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215,en,Hereditary hypophosphatemic rickets with hypercalciuria,en,1,12333,93419,Rare bone disease,en,17137,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1548,1325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1325,en,Camptodactyly-taurinuria syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1548,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1549,1326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326,en,"Camptodactyly syndrome, Guadalajara type 2",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1549,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1550,1327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1327,en,"Camptodactyly syndrome, Guadalajara type 1",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1550,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1551,1328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328,en,Camurati-Engelmann disease,en,1,12333,93419,Rare bone disease,en,1551,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1544,1321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321,en,Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1544,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1546,1323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323,en,Camptodactyly-joint contractures-facial skeletal defects syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1546,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1540,1314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1314,en,Symmetrical thalamic calcifications,en,1,13024,98006,Rare neurologic disease,en,1540,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1542,1318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318,en,"Campomelia, Cumming type",en,1,12333,93419,Rare bone disease,en,1542,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1543,1319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1319,en,Camptobrachydactyly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1543,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17089,155889,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155889,en,Coloboma of inferior eyelid,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17089,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1536,1305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305,en,Feingold syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1536,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1537,1307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1307,en,Distal limb deficiencies-micrognathia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1537,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17088,155884,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155884,en,Coloboma of superior eyelid,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17088,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1539,1313,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1313,en,Infantile choroidocerebral calcification syndrome,en,1,13024,98006,Rare neurologic disease,en,1539,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1565,1350,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350,en,Heart-hand syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1565,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1567,1355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1355,en,Congenital heart defect-round face-developmental delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1567,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1566,1352,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352,en,Atrioventricular defect-blepharophimosis-radial and anal defect syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1566,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1561,1342,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342,en,Heart-hand syndrome type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1561,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1563,1345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345,en,Cardiomyopathy-cataract-hip spine disease syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,1563,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1557,1338,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1338,en,Heart defect-tongue hamartoma-polysyndactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1557,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1559,1340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340,en,Cardiofaciocutaneous syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1559,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1553,2856,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856,en,Persistent Mllerian duct syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1553,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1555,1336,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1336,en,Hyperkeratosis-hyperpigmentation syndrome,en,1,11896,89826,Rare skin disease,en,1555,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1554,1335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335,en,Pentalogy of Cantrell,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1554,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1762,1682,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1682,en,Arterial dissection-lentiginosis syndrome,en,1,13046,98028,Rare circulatory system disease,en,1762,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1773,1757,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1757,en,Fibular dimelia-diplopodia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1773,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1772,1756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756,en,Caudal duplication,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1772,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1776,1765,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1765,en,Dyschondrosteosis-nephritis syndrome,en,1,12333,93419,Rare bone disease,en,1776,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1777,1766,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766,en,Dysequilibrium syndrome,en,1,13024,98006,Rare neurologic disease,en,1777,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1782,1777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777,en,Temtamy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1782,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1783,1780,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1780,en,Thakker-Donnai syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1783,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1780,1772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772,en,"45,X/46,XY mixed gonadal dysgenesis",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1780,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1786,1784,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1784,en,Acrofrontofacionasal dysostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1786,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1784,1782,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782,en,Dysosteosclerosis,en,1,12333,93419,Rare bone disease,en,1784,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1790,1790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790,en,Hypomandibular faciocranial dysostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1790,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1788,1786,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786,en,"Acrofacial dysostosis, Catania type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1788,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1789,1788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788,en,"Acrofacial dysostosis, Rodrguez type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1789,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1729,859,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859,en,Transcobalamin deficiency,en,1,13010,97992,Rare hematologic disease,en,1729,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16896,139441,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139441,en,Hypomyelination with atrophy of basal ganglia and cerebellum,en,1,13024,98006,Rare neurologic disease,en,16896,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1728,3196,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3196,en,Steroid dehydrogenase deficiency-dental anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1728,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16897,139444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139444,en,Leukoencephalopathy with bilateral anterior temporal lobe cysts,en,1,13024,98006,Rare neurologic disease,en,16897,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16898,139447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139447,en,Progressive cavitating leukoencephalopathy,en,1,13024,98006,Rare neurologic disease,en,16898,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1731,1573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573,en,Hypotrichosis with juvenile macular degeneration,en,1,12984,97966,Rare ophthalmic disorder,en,1731,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1730,726,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726,en,Alpers-Huttenlocher syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,1730,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16899,139450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139450,en,Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16899,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16900,139455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139455,en,Autosomal recessive bestrophinopathy,en,1,12984,97966,Rare ophthalmic disorder,en,16900,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1732,1574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1574,en,Retinal degeneration-nanophthalmos-glaucoma syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,1732,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16903,139466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466,en,SERKAL syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16903,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1737,1596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1596,en,Distal deletion 15q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1737,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16904,139471,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471,en,Microphthalmia with brain and digit anomalies,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16904,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16905,139474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474,en,17q11.2 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16905,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1739,1617,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617,en,2q24 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1739,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1738,1606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606,en,1p36 deletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1738,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16907,139480,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480,en,Autosomal recessive spastic paraplegia type 39,en,1,13024,98006,Rare neurologic disease,en,16907,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1741,1647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647,en,Oculocerebrocutaneous syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1741,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16908,139485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485,en,Autosomal recessive ataxia due to ubiquinone deficiency,en,1,13024,98006,Rare neurologic disease,en,16908,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1743,1653,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1653,en,Dentin dysplasia,en,1,13044,98026,Rare odontologic disease,en,1743,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16911,139507,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139507,en,Dietary iron overload disease,en,1,10772,57146,Rare hepatic disease,en,16911,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16913,139515,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139515,en,Charcot-Marie-Tooth disease type 4J,en,1,13024,98006,Rare neurologic disease,en,16913,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16912,139512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512,en,Neuropathy with hearing impairment,en,1,13024,98006,Rare neurologic disease,en,16912,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1745,1657,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1657,en,"Dermatoosteolysis, Kirghizian type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1745,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16915,139525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139525,en,Distal hereditary motor neuropathy type 2,en,1,13024,98006,Rare neurologic disease,en,16915,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1746,1658,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1658,en,Absence of fingerprints-congenital milia syndrome,en,1,11896,89826,Rare skin disease,en,1746,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16914,139518,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139518,en,Distal hereditary motor neuropathy type 1,en,1,13024,98006,Rare neurologic disease,en,16914,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1747,1659,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1659,en,Dermatoleukodystrophy,en,1,13024,98006,Rare neurologic disease,en,1747,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16917,139547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139547,en,Distal spinal muscular atrophy type 3,en,1,13024,98006,Rare neurologic disease,en,16917,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16916,139536,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139536,en,Distal hereditary motor neuropathy type 5,en,1,13024,98006,Rare neurologic disease,en,16916,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1749,1660,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660,en,Dermoodontodysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1749,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16919,139557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557,en,X-linked distal spinal muscular atrophy type 3,en,1,13024,98006,Rare neurologic disease,en,16919,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1750,1661,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1661,en,X-linked corneal dermoid,en,1,12984,97966,Rare ophthalmic disorder,en,1750,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1751,1662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662,en,Restrictive dermopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1751,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16918,139552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139552,en,"Distal hereditary motor neuropathy, Jerash type",en,1,13024,98006,Rare neurologic disease,en,16918,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16921,139573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139573,en,Hereditary sensory and autonomic neuropathy with deafness and global delay,en,1,13024,98006,Rare neurologic disease,en,16921,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1753,1665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1665,en,Sporadic fetal brain disruption sequence,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1753,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16920,139564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139564,en,Hereditary sensory and autonomic neuropathy type 1B,en,1,13024,98006,Rare neurologic disease,en,16920,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16923,139583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139583,en,X-linked hereditary sensory and autonomic neuropathy with deafness,en,1,13024,98006,Rare neurologic disease,en,16923,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1754,1667,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667,en,Wolcott-Rallison syndrome,en,1,12333,93419,Rare bone disease,en,1754,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16922,139578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139578,en,Mutilating hereditary sensory neuropathy with spastic paraplegia,en,1,13024,98006,Rare neurologic disease,en,16922,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16924,139589,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139589,en,Distal hereditary motor neuropathy type 7,en,1,13024,98006,Rare neurologic disease,en,16924,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1757,1671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671,en,Split cord malformation type I,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1757,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16998,140917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140917,en,Stapes ankylosis with broad thumbs and toes,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16998,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1703,1548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1548,en,Cryptorchidism-arachnodactyly-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1703,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1702,1547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1547,en,Cryptomicrotia-brachydactyly-excess fingertip arch syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1702,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16999,140922,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140922,en,Titin-related limb-girdle muscular dystrophy R10,en,1,13024,98006,Rare neurologic disease,en,16999,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1701,1545,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1545,en,Crisponi syndrome,en,1,13024,98006,Rare neurologic disease,en,1701,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16994,140905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905,en,Hyperlipidemia due to hepatic triacylglycerol lipase deficiency,en,1,12996,97978,Rare endocrine disease,en,16994,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1699,1540,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540,en,Jackson-Weiss syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1699,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16995,140908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140908,en,Brachydactyly type B2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16995,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16993,140896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140896,en,Severe acute respiratory syndrome,en,1,12974,97955,Rare respiratory disease,en,16993,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1696,1532,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532,en,Gmez-Lpez-Hernndez syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1696,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17006,140952,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952,en,Syndactyly-telecanthus-anogenital and renal malformations syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17006,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17007,140957,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140957,en,Autosomal dominant macrothrombocytopenia,en,1,13010,97992,Rare hematologic disease,en,17007,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17004,140944,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944,en,CLOVES syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17004,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17005,140949,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140949,en,Low-flow priapism,en,1,14860,101433,Rare urogenital disease,en,17005,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1707,1555,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555,en,Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1707,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17002,140936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140936,en,Lelis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17002,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17003,140941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140941,en,Short stature due to primary acid-labile subunit deficiency,en,1,12996,97978,Rare endocrine disease,en,17003,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1705,1553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553,en,Curry-Jones syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1705,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17000,140927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927,en,Benign familial neonatal-infantile seizures,en,1,13024,98006,Rare neurologic disease,en,17000,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17001,140933,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140933,en,Linear atrophoderma of Moulin,en,1,11896,89826,Rare skin disease,en,17001,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17015,140989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140989,en,Primary angiitis of the central nervous system,en,1,13024,98006,Rare neurologic disease,en,17015,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1718,1566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566,en,Dandy-Walker malformation-postaxial polydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1718,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17013,140976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976,en,RHYNS syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17013,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1716,1563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563,en,Dahlberg-Borer-Newcomer syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1716,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17012,140969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969,en,Saldino-Mainzer syndrome,en,1,12333,93419,Rare bone disease,en,17012,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17011,140966,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140966,en,"Palmoplantar keratoderma, Nagashima type",en,1,11896,89826,Rare skin disease,en,17011,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1715,1562,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1562,en,Dacryocystitis-osteopoikilosis syndrome,en,1,12333,93419,Rare bone disease,en,1715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17010,140963,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963,en,Bilateral microtia-deafness-cleft palate syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17010,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17023,141046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141046,en,Cervical dermoid cyst,en,1,13054,98036,Rare otorhinolaryngologic disease,en,17023,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1726,382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382,en,Guanidinoacetate methyltransferase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,1726,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1727,742,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742,en,Prolidase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,1727,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17022,141037,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141037,en,Fourth branchial cleft anomaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17022,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17021,141030,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141030,en,Third branchial cleft anomaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17021,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17020,141022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141022,en,Second branchial cleft anomaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17020,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1725,1979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1979,en,Lipodystrophy due to peptidic growth factors deficiency,en,1,12996,97978,Rare endocrine disease,en,1725,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17019,141013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141013,en,First branchial cleft anomaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17019,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1722,1571,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571,en,Knobloch syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1722,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17018,141007,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007,en,Orofaciodigital syndrome type 9,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17018,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1723,1551,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1551,en,Familial benign copper deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,1723,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1720,1568,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568,en,X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1720,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17017,141000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000,en,Orofaciodigital syndrome type 11,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17017,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1668,1497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497,en,X-linked complicated corpus callosum dysgenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1668,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16965,140436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436,en,Primary intraosseous venous malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,16965,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1665,1493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493,en,Vici syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1665,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16962,140286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140286,en,Secondary hypoparathyroidism due to impaired parathormon secretion,en,1,12996,97978,Rare endocrine disease,en,16962,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1667,1495,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495,en,Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1667,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1676,1509,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1509,en,Coxopodopatellar syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1676,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1679,1512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512,en,Crane-Heise syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1679,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1673,1506,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1506,en,Thin ribs-tubular bones-dysmorphism syndrome,en,1,12333,93419,Rare bone disease,en,1673,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1675,1508,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1508,en,Coxoauricular syndrome,en,1,12333,93419,Rare bone disease,en,1675,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1674,1507,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507,en,Autosomal recessive Robinow syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1674,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1684,1517,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517,en,Cant syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1684,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1686,1519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519,en,SPECC1L-related hypertelorism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1686,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1687,1520,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520,en,Craniofrontonasal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1687,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1680,1513,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513,en,Craniodiaphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,1680,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1681,1514,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1514,en,Craniodigital-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1681,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,16976,140481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140481,en,Autosomal dominant slowed nerve conduction velocity,en,1,13024,98006,Rare neurologic disease,en,16976,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1682,1515,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515,en,Cranioectodermal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1682,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1683,1516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516,en,Non-syndromic bilambdoid and sagittal craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1683,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1693,1527,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527,en,"Craniosynostosis, Philadelphia type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1693,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1694,1528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528,en,Craniotelencephalic dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1694,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1695,1529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529,en,Craniofacial-deafness-hand syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1695,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1688,1521,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1521,en,Craniofrontonasal dysplasia-Poland anomaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1688,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1689,1522,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522,en,Craniometaphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,1689,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1691,1525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1525,en,Cranio-osteoarthropathy,en,1,12333,93419,Rare bone disease,en,1691,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1913,1969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1969,en,Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1913,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1912,1968,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1968,en,Flat face-microstomia-ear anomaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1912,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1914,1970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970,en,Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1914,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1917,1973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973,en,Faciocardiorenal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1917,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1916,1972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972,en,Lethal faciocardiomelic dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1916,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1918,1974,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974,en,Autosomal recessive faciodigitogenital syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1918,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1907,1962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1962,en,Exostoses-anetodermia-brachydactyly type E syndrome,en,1,12333,93419,Rare bone disease,en,1907,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1908,1964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964,en,Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1908,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1896,1822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1822,en,Dysplasia epiphysealis hemimelica,en,1,12333,93419,Rare bone disease,en,1896,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1897,1824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824,en,Lowry-Wood syndrome,en,1,12333,93419,Rare bone disease,en,1897,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1899,1952,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1952,en,Epiphyseal stippling-osteoclastic hyperplasia syndrome,en,1,12333,93419,Rare bone disease,en,1899,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1901,1954,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1954,en,Congenital lethal erythroderma,en,1,11896,89826,Rare skin disease,en,1901,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1902,1955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955,en,Spinocerebellar ataxia type 34,en,1,11896,89826,Rare skin disease,en,1902,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1888,1926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926,en,Diabetic embryopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1888,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1889,2209,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209,en,Maternal phenylketonuria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1889,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1890,1927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1927,en,Emery-Nelson syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1890,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1891,1937,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1937,en,Eng-Strom syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1891,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1882,1920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920,en,Toluene embryopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1882,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1881,1919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919,en,Phenobarbital embryopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1881,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1880,1917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917,en,Fetal methylmercury syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1880,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1885,1923,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923,en,Methimazole embryofetopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1885,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1875,1912,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912,en,Fetal hydantoin syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1875,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1874,1918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918,en,Fetal minoxidil syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1874,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1873,1911,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911,en,Cocaine embryofetopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1873,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1872,1910,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910,en,Fetal iodine syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1872,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1879,1916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916,en,Diethylstilbestrol syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1879,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1878,294,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294,en,Fetal cytomegalovirus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1878,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1877,1914,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914,en,Vitamin K antagonist embryofetopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1877,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1876,1913,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913,en,Fetal trimethadione syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1876,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1864,1896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896,en,EEC syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1864,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1865,1897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897,en,EEM syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1865,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1870,1908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908,en,Aminopterin/methotrexate embryofetopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1870,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1871,1909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909,en,Indomethacin embryofetopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1871,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1868,1906,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906,en,Fetal valproate spectrum disorder,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1868,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1863,1895,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1895,en,Edinburgh malformation syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1863,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1860,1891,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891,en,Intellectual disability-spasticity-ectrodactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1860,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1861,1892,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892,en,Ectrodactyly-polydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1861,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1853,1816,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816,en,Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1853,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1855,1807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1807,en,Focal facial dermal dysplasia type III,en,1,11896,89826,Rare skin disease,en,1855,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1854,1818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818,en,"Ectodermal dysplasia, trichoodontoonychial type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1854,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1851,1883,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883,en,Ectodermal dysplasia-sensorineural deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1851,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1850,1882,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882,en,Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1850,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1845,1875,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1875,en,Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,en,1,13024,98006,Rare neurologic disease,en,1845,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1844,1873,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873,en,Jalili syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1844,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1847,1879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879,en,Melorheostosis with osteopoikilosis,en,1,12333,93419,Rare bone disease,en,1847,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1840,1867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867,en,"Hereditary bullous dystrophy, macular type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1840,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1843,1872,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1872,en,Cone rod dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,1843,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1842,1871,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1871,en,Progressive cone dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,1842,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1837,1860,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860,en,Thanatophoric dysplasia type 1,en,1,12333,93419,Rare bone disease,en,1837,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1838,1861,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861,en,Thoracic dysplasia-hydrocephalus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1838,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1839,1865,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865,en,"Dyssegmental dysplasia, Silverman-Handmaker type",en,1,12333,93419,Rare bone disease,en,1839,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1835,1858,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858,en,Skeletal dysplasia-epilepsy-short stature syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1835,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1826,1852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1852,en,X-linked retinal dysplasia,en,1,12984,97966,Rare ophthalmic disorder,en,1826,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1821,1842,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1842,en,"Bone dysplasia, lethal Holmgren type",en,1,12333,93419,Rare bone disease,en,1821,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1818,1839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1839,en,Hereditary mucoepithelial dysplasia,en,1,11896,89826,Rare skin disease,en,1818,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1816,1837,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1837,en,Ulna metaphyseal dysplasia syndrome,en,1,12333,93419,Rare bone disease,en,1816,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1815,1836,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1836,en,"Mesomelic dysplasia, Kantaputra type",en,1,12333,93419,Rare bone disease,en,1815,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1814,1834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834,en,Axial mesodermal dysplasia spectrum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1814,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1812,1830,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830,en,Schimke immuno-osseous dysplasia,en,1,12333,93419,Rare bone disease,en,1812,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1811,1825,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1825,en,Epiphyseal dysplasia-hearing loss-dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1811,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1804,1811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811,en,Odontomicronychial dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1804,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1805,1812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812,en,Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1805,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1802,1808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1808,en,"Hidrotic ectodermal dysplasia, Christianson-Fourie type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1802,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1803,1809,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809,en,"Hidrotic ectodermal dysplasia, Halal type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,1803,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1801,1806,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806,en,Ectodermal dysplasia-blindness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1801,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1798,1802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1802,en,Ghosal hematodiaphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,1798,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1799,1803,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803,en,Thoracomelic dysplasia,en,1,12333,93419,Rare bone disease,en,1799,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1797,1801,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1801,en,Kyphomelic dysplasia,en,1,12333,93419,Rare bone disease,en,1797,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1794,1798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1798,en,"Dysostosis, Stanescu type",en,1,12333,93419,Rare bone disease,en,1794,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1795,1799,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1799,en,Familial developmental dysphasia,en,1,13024,98006,Rare neurologic disease,en,1795,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1793,1794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794,en,Oculomaxillofacial dysostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1793,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2033,2128,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128,en,Isolated hemihyperplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2033,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2036,2136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136,en,Hennekam syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2036,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2037,2138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138,en,"46,XX ovotesticular difference of sex development",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2037,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2038,2139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2139,en,Hernndez-Aguirre Negrete syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2038,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2040,2141,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2141,en,Diaphragmatic defect-limb deficiency-skull defect syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2040,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2043,2143,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143,en,Donnai-Barrow syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2043,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2044,2145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2145,en,"Craniosynostosis, Herrmann-Opitz type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2044,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2046,2149,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149,en,Nodular neuronal heterotopia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2046,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2047,2148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148,en,Lissencephaly type 1 due to doublecortin gene mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2047,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17184,158048,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158048,en,Hemophagocytic syndrome associated with an infection,en,1,13022,98004,Rare immune disease,en,17184,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17185,158057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158057,en,Acquired hemophagocytic lymphohistiocytosis associated with malignant disease,en,1,13022,98004,Rare immune disease,en,17185,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2019,2108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108,en,Hallermann-Streiff syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2019,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17186,158061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158061,en,Macrophage activation syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,17186,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2018,2107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2107,en,Hall-Riggs syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2018,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2021,2110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2110,en,Hallux varus-preaxial polysyndactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2021,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2020,2109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109,en,Hallermann-Streiff-like syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2020,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2022,2111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2111,en,Cystic hamartoma of lung and kidney,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2022,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2025,2115,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2115,en,Harrod syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2025,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2024,2114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2114,en,"Hip dysplasia, Beukes type",en,1,12333,93419,Rare bone disease,en,2024,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2027,2994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2994,en,Short stature-craniofacial anomalies-genital hypoplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2027,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2026,2117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117,en,Hartsfield syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2026,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2028,2119,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119,en,HEC syndrome,en,1,12948,97929,Rare cardiac disease,en,2028,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2030,2123,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2123,en,Diffuse neonatal hemangiomatosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2030,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17171,157997,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157997,en,Benign cephalic histiocytosis,en,1,11896,89826,Rare skin disease,en,17171,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2002,2090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090,en,GMS syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2002,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17170,157991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157991,en,Generalized eruptive histiocytosis,en,1,11896,89826,Rare skin disease,en,17170,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2003,2091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2091,en,Multinodular goiter-cystic kidney-polydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2003,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17175,158011,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158011,en,Necrobiotic xanthogranuloma,en,1,11896,89826,Rare skin disease,en,17175,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17174,158008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158008,en,Papular xanthoma,en,1,11896,89826,Rare skin disease,en,17174,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2007,376,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376,en,Gordon syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2007,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17173,158003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158003,en,Xanthoma disseminatum,en,1,11896,89826,Rare skin disease,en,17173,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2004,2092,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092,en,Focal dermal hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2004,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17172,158000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158000,en,Juvenile xanthogranuloma,en,1,11896,89826,Rare skin disease,en,17172,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2010,2098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098,en,"Acromesomelic dysplasia, Grebe type",en,1,12333,93419,Rare bone disease,en,2010,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17179,158025,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158025,en,Hereditary progressive mucinous histiocytosis,en,1,11896,89826,Rare skin disease,en,17179,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17178,158022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158022,en,Progressive nodular histiocytosis,en,1,11896,89826,Rare skin disease,en,17178,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2011,380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380,en,Greig cephalopolysyndactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2011,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2008,2095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095,en,Gorlin-Chaudhry-Moss syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2008,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17177,158019,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158019,en,Indeterminate cell histiocytosis,en,1,11896,89826,Rare skin disease,en,17177,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17176,158014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158014,en,Rosa-Dorfman disease,en,1,13041,98023,Rare systemic or rheumatologic disease,en,17176,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2009,2097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097,en,Grant syndrome,en,1,12333,93419,Rare bone disease,en,2009,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2014,2101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2101,en,Grubben-de Cock-Borghgraef syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2014,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2015,2104,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2104,en,Dysmorphism-pectus carinatum-joint laxity syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2015,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17180,158029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158029,en,Sea-blue histiocytosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,17180,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1987,2069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2069,en,Gastrocutaneous syndrome,en,1,11896,89826,Rare skin disease,en,1987,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17155,157846,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846,en,Neuroferritinopathy,en,1,13024,98006,Rare neurologic disease,en,17155,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17152,157832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832,en,Craniorhiny,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17152,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1985,2067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067,en,GAPO syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1985,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17153,157835,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157835,en,Paroxysmal hemicrania,en,1,13024,98006,Rare neurologic disease,en,17153,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1984,2065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065,en,Galloway-Mowat syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1984,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1991,2075,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075,en,Genitopalatocardiac syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1991,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17159,157941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941,en,Huntington disease-like 1,en,1,13024,98006,Rare neurologic disease,en,17159,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1990,2074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074,en,Gemignani syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1990,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17156,157850,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850,en,Pantothenate kinase-associated neurodegeneration,en,1,13024,98006,Rare neurologic disease,en,17156,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1989,2072,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072,en,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,1989,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17162,157954,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954,en,ANE syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,17162,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17163,157962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962,en,"Oculoauricular syndrome, Schorderet type",en,1,12984,97966,Rare ophthalmic disorder,en,17163,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17160,157946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157946,en,Huntington disease-like 3,en,1,13024,98006,Rare neurologic disease,en,17160,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1993,2078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078,en,Geroderma osteodysplastica,en,1,12333,93419,Rare bone disease,en,1993,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17161,157949,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157949,en,Combined immunodeficiency with granulomatosis,en,1,13022,98004,Rare immune disease,en,17161,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1992,2077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077,en,German syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1992,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17166,157973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157973,en,Congenital muscular dystrophy due to LMNA mutation,en,1,13024,98006,Rare neurologic disease,en,17166,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1999,2085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2085,en,Glaucoma-sleep apnea syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,1999,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1998,2084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084,en,Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1998,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17164,157965,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965,en,SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,17164,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1997,2083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2083,en,Prominent glabella-microcephaly-hypogenitalism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1997,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1974,1791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791,en,Frontofacionasal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1974,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1975,1826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826,en,Frontometaphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,1975,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1968,2047,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047,en,Flynn-Aird syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1968,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1969,2048,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2048,en,Foix-Chavany-Marie syndrome,en,1,13024,98006,Rare neurologic disease,en,1969,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1971,2050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050,en,Cole-Carpenter syndrome,en,1,12333,93419,Rare bone disease,en,1971,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1982,2063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063,en,Splenogonadal fusion-limb defects-micrognathia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1982,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1983,2064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2064,en,Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1983,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1978,2057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057,en,Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1978,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1979,2059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059,en,Fryns syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1979,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1957,2026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026,en,Gingival fibromatosis-hypertrichosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1957,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1956,2025,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2025,en,Gingival fibromatosis-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1956,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1959,2028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028,en,Juvenile hyaline fibromatosis,en,1,12333,93419,Rare bone disease,en,1959,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1958,2027,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2027,en,Gingival fibromatosis-progressive deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1958,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1953,2021,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021,en,Fibrochondrogenesis,en,1,12333,93419,Rare bone disease,en,1953,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1952,2019,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2019,en,Femur-fibula-ulna complex,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1952,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1955,2024,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2024,en,Hereditary gingival fibromatosis,en,1,13044,98026,Rare odontologic disease,en,1955,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1954,2022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022,en,Endocardial fibroelastosis,en,1,12948,97929,Rare cardiac disease,en,1954,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1965,2824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2824,en,Paraplegia-intellectual disability-hyperkeratosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1965,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1967,2045,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2045,en,FLOTCH syndrome,en,1,11896,89826,Rare skin disease,en,1967,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1966,2044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044,en,Floating-Harbor syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1966,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1961,2031,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031,en,Hepatic fibrosis-renal cysts-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1961,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1962,2036,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036,en,Scalp-ear-nipple syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1962,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17239,158769,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158769,en,Plaque-form urticaria pigmentosa,en,1,11896,89826,Rare skin disease,en,17239,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1942,2006,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2006,en,Median cleft lip/mandible,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1942,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17238,158766,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158766,en,Typical urticaria pigmentosa,en,1,11896,89826,Rare skin disease,en,17238,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1943,2007,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2007,en,Alar cartilages hypoplasia-coloboma-telecanthus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1943,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1940,2003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003,en,Cleft lip/palate-deafness-sacral lipoma syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1940,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17237,158687,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687,en,Lethal acantholytic erosive disorder,en,1,11896,89826,Rare skin disease,en,17237,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17236,158684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158684,en,Epidermolysis bullosa simplex with pyloric atresia,en,1,11896,89826,Rare skin disease,en,17236,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1941,2004,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004,en,Laryngotracheoesophageal cleft,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1941,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1938,2001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001,en,Cleft lip/palate-intestinal malrotation-cardiopathy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1938,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17235,158681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158681,en,Epidermolysis bullosa simplex with circinate migratory erythema,en,1,11896,89826,Rare skin disease,en,17235,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17234,158676,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676,en,"Localized dystrophic epidermolysis bullosa, nails only",en,1,11896,89826,Rare skin disease,en,17234,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17233,158673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673,en,"Localized dystrophic epidermolysis bullosa, acral form",en,1,11896,89826,Rare skin disease,en,17233,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17232,158668,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668,en,Ectodermal dysplasia-skin fragility syndrome,en,1,11896,89826,Rare skin disease,en,17232,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1950,2016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016,en,Cleft palate-lateral synechia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1950,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1951,2017,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2017,en,Sternal cleft,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1951,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1949,2013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2013,en,Cleft palate-large ears-small head syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1949,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1946,2010,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2010,en,Cleft palate-stapes fixation-oligodontia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1946,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17242,158778,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158778,en,Isolated bone marrow mastocytosis,en,1,19592,250908,Rare neoplastic disease,en,17242,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17241,158775,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158775,en,Smoldering systemic mastocytosis,en,1,19592,250908,Rare neoplastic disease,en,17241,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,17240,158772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158772,en,Nodular urticaria pigmentosa,en,1,11896,89826,Rare skin disease,en,17240,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1945,2008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008,en,Acrocardiofacial syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1945,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1927,1987,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1987,en,Femoral agenesis/hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1927,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1926,1986,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986,en,Gollop-Wolfgang complex,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1926,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1923,1980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980,en,Bilateral striopallidodentate calcinosis,en,1,13024,98006,Rare neurologic disease,en,1923,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1934,1997,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997,en,Blepharo-cheilo-odontic syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1934,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1932,1995,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1995,en,Cleft lip-retinopathy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1932,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1931,1993,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993,en,Pai syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1931,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,1928,1988,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988,en,Femoral-facial syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,1928,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2200,2348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348,en,"Familial partial lipodystrophy, Dunnigan type",en,1,12996,97978,Rare endocrine disease,en,2200,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19545,247775,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775,en,Mayer-Rokitansky-Kster-Hauser syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19545,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2201,2351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2351,en,Kousseff syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2201,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19544,247768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768,en,Mllerian aplasia and hyperandrogenism,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19544,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2202,2353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353,en,Schilbach-Rott syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2202,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19546,247790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790,en,FTH1-related iron overload,en,1,10507,68367,Rare inborn errors of metabolism,en,19546,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19549,247798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798,en,MUTYH-related attenuated familial adenomatous polyposis,en,1,12954,97935,Rare gastroenterologic disease,en,19549,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19548,247794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794,en,Juvenile cataract-microcornea-renal glucosuria syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,19548,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19551,247815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815,en,Autosomal recessive ataxia due to PEX10 deficiency,en,1,13024,98006,Rare neurologic disease,en,19551,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19550,247806,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247806,en,APC-related attenuated familial adenomatous polyposis,en,1,12954,97935,Rare gastroenterologic disease,en,19550,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2207,2363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363,en,Lacrimoauriculodentodigital syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2207,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19537,247691,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691,en,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,en,1,13024,98006,Rare neurologic disease,en,19537,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2192,2340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2340,en,Keratosis follicularis spinulosa decalvans,en,1,11896,89826,Rare skin disease,en,2192,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19536,247685,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685,en,Odontohypophosphatasia,en,1,12333,93419,Rare bone disease,en,19536,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2194,2342,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342,en,Haim-Munk syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2194,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19539,247709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709,en,Multiple endocrine neoplasia type 2B,en,1,19592,250908,Rare neoplastic disease,en,19539,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19538,247698,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698,en,Multiple endocrine neoplasia type 2A,en,1,19592,250908,Rare neoplastic disease,en,19538,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19541,247724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247724,en,Idiopathic eosinophilic myositis,en,1,13024,98006,Rare neurologic disease,en,19541,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19540,247718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247718,en,Inflammatory myopathy with abundant macrophages,en,1,13024,98006,Rare neurologic disease,en,19540,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2198,485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485,en,Kniest dysplasia,en,1,12333,93419,Rare bone disease,en,2198,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19542,247762,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247762,en,Lipoblastoma,en,1,19592,250908,Rare neoplastic disease,en,19542,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2199,2347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2347,en,Lethal Kniest-like dysplasia,en,1,12333,93419,Rare bone disease,en,2199,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19528,247585,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585,en,Citrullinemia type II,en,1,10507,68367,Rare inborn errors of metabolism,en,19528,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2185,2333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333,en,Kenny-Caffey syndrome,en,1,12333,93419,Rare bone disease,en,2185,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19529,247598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247598,en,Neonatal intrahepatic cholestasis due to citrin deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,19529,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2184,2332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332,en,KBG syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2184,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19530,247604,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247604,en,Juvenile primary lateral sclerosis,en,1,13024,98006,Rare neurologic disease,en,19530,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19531,247623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623,en,Perinatal lethal hypophosphatasia,en,1,12333,93419,Rare bone disease,en,19531,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19532,247638,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638,en,Prenatal benign hypophosphatasia,en,1,12333,93419,Rare bone disease,en,19532,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2188,2337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2337,en,Non-epidermolytic palmoplantar keratoderma,en,1,11896,89826,Rare skin disease,en,2188,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19533,247651,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651,en,Infantile hypophosphatasia,en,1,12333,93419,Rare bone disease,en,19533,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19534,247667,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667,en,Childhood-onset hypophosphatasia,en,1,12333,93419,Rare bone disease,en,19534,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2191,2339,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339,en,Keratosis follicularis-dwarfism-cerebral atrophy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2191,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19535,247676,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676,en,Adult hypophosphatasia,en,1,12333,93419,Rare bone disease,en,19535,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2190,494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494,en,Keratoderma hereditarium mutilans,en,1,11896,89826,Rare skin disease,en,2190,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2177,2322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322,en,Kabuki syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2177,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19521,247378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247378,en,Autosomal recessive secondary polycythemia not associated with VHL gene,en,1,13010,97992,Rare hematologic disease,en,19521,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2176,2321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321,en,Jung syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2176,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2179,2324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324,en,Osteopenia-intellectual disability-sparse hair syndrome,en,1,12333,93419,Rare bone disease,en,2179,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19522,247511,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247511,en,Autosomal dominant secondary polycythemia,en,1,13010,97992,Rare hematologic disease,en,19522,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2178,2323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323,en,Sanjad-Sakati syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2178,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19523,247522,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247522,en,Primary ciliary dyskinesia-retinitis pigmentosa syndrome,en,1,12974,97955,Rare respiratory disease,en,19523,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19524,247525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247525,en,Citrullinemia type I,en,1,10507,68367,Rare inborn errors of metabolism,en,19524,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19525,247546,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247546,en,Acute neonatal citrullinemia type I,en,1,10507,68367,Rare inborn errors of metabolism,en,19525,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2180,2325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325,en,Epidermolysis bullosa simplex with anodontia/hypodontia,en,1,11896,89826,Rare skin disease,en,2180,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19526,247573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247573,en,Late-onset citrullinemia type I,en,1,10507,68367,Rare inborn errors of metabolism,en,19526,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2183,2329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2329,en,Karsch-Neugebauer syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2183,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2182,2328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328,en,Kapur-Toriello syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2182,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2234,2408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408,en,Lowe-Kohn-Cohen syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2234,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2235,2409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409,en,Lowry-MacLean syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2235,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2232,2405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2405,en,Thickened earlobes-conductive deafness syndrome,en,1,13054,98036,Rare otorhinolaryngologic disease,en,2232,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2233,2407,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407,en,Laryngo-onycho-cutaneous syndrome,en,1,11896,89826,Rare skin disease,en,2233,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2239,2412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2412,en,Dislocation of the hip-dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2239,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2236,2575,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2575,en,Cystic fibrosis-gastritis-megaloblastic anemia syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,2236,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19580,248408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248408,en,Familial hypodysfibrinogenemia,en,1,13010,97992,Rare hematologic disease,en,19580,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2237,2410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2410,en,Hypergonadotropic hypogonadism-cataract syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2237,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2226,2399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2399,en,Nasopalpebral lipoma-coloboma syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2226,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2227,2400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2400,en,Peripheral motor neuropathy-dysautonomia syndrome,en,1,13024,98006,Rare neurologic disease,en,2227,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2225,2396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396,en,Encephalocraniocutaneous lipomatosis,en,1,11896,89826,Rare skin disease,en,2225,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19572,248340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248340,en,Isolated delta-storage pool disease,en,1,13010,97992,Rare hematologic disease,en,19572,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2219,2388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388,en,Choreoacanthocytosis,en,1,13024,98006,Rare neurologic disease,en,2219,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19562,248111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111,en,Juvenile Huntington disease,en,1,13024,98006,Rare neurologic disease,en,19562,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2218,2387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2387,en,Leukonychia totalis,en,1,11896,89826,Rare skin disease,en,2218,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2217,2386,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2386,en,Leukoencephalopathy-palmoplantar keratoderma syndrome,en,1,11896,89826,Rare skin disease,en,2217,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2216,2379,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2379,en,Early-onset parkinsonism-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2216,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2222,2391,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2391,en,Congenitally short costocoracoid ligament,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2222,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2221,2390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2390,en,Lichtenstein syndrome,en,1,13022,98004,Rare immune disease,en,2221,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19554,247834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247834,en,Occult macular dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,19554,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2211,2371,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371,en,Lethal Larsen-like syndrome,en,1,12333,93419,Rare bone disease,en,2211,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2210,2369,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2369,en,Limb body wall complex,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2210,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19552,247820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247820,en,Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19552,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19553,247827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247827,en,Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19553,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2215,2378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378,en,Laurin-Sandrow syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2215,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19559,247868,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247868,en,NLRP12-associated hereditary periodic fever syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,19559,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2213,2375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2375,en,Laryngeal abductor paralysis-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2213,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2270,2456,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2456,en,Familial supernumerary nipples,en,1,12845,96344,Rare gynecologic or obstetric disease,en,2270,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2271,2457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457,en,Mandibuloacral dysplasia,en,1,12333,93419,Rare bone disease,en,2271,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2266,2451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2451,en,Mucocutaneous venous malformations,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2266,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2260,2439,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439,en,Patterson-Stevenson-Fontaine syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2260,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19477,244305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305,en,Dominant hypophosphatemia with nephrolithiasis or osteoporosis,en,1,12456,93626,Rare renal disease,en,19477,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19476,244283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283,en,Biliary atresia with splenic malformation syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19476,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2261,2440,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2440,en,Isolated split hand-split foot malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2261,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19478,244310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310,en,RFT1-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,19478,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19473,244242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244242,en,HELLP syndrome,en,1,13010,97992,Rare hematologic disease,en,19473,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2257,296,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296,en,Ollier disease,en,1,12333,93419,Rare bone disease,en,2257,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2258,2437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2437,en,Czeizel-Losonci syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2258,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19474,244275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244275,en,De novo thrombotic microangiopathy after kidney transplantation,en,1,12456,93626,Rare renal disease,en,19474,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2259,2438,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438,en,Hand-foot-genital syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2259,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19468,243343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243343,en,Dimethylglycine dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,19468,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19469,243367,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243367,en,Acute fatty liver of pregnancy,en,1,10772,57146,Rare hepatic disease,en,19469,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2255,2435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2435,en,Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome,en,1,11896,89826,Rare skin disease,en,2255,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2249,2429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2429,en,Macrocephaly-spastic paraplegia-dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2249,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2251,2432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432,en,Macrosomia-microphthalmia-cleft palate syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2251,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2302,2489,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2489,en,Upper limb defect-eye and ear abnormalities syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2302,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19519,247353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247353,en,Generalized pustular psoriasis,en,1,11896,89826,Rare skin disease,en,19519,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19518,247262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262,en,Hyperphosphatasia-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19518,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2300,2487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2487,en,Lower limb malformation-hypospadias syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2300,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19517,247257,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247257,en,Inhalational anthrax,en,1,10557,68416,Rare infectious disease,en,19517,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19516,247245,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247245,en,Superficial siderosis,en,1,13024,98006,Rare neurologic disease,en,19516,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2298,2485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485,en,Melorheostosis,en,1,12333,93419,Rare bone disease,en,2298,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19513,247234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247234,en,Sporadic adult-onset ataxia of unknown etiology,en,1,13024,98006,Rare neurologic disease,en,19513,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2296,2483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2483,en,Melkersson-Rosenthal syndrome,en,1,11896,89826,Rare skin disease,en,2296,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19512,247203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247203,en,Collecting duct carcinoma,en,1,19592,250908,Rare neoplastic disease,en,19512,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2297,2484,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484,en,Melnick-Needles syndrome,en,1,12333,93419,Rare bone disease,en,2297,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19511,247198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198,en,Progressive cerebello-cerebral atrophy,en,1,13024,98006,Rare neurologic disease,en,19511,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2294,2481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2481,en,Neurocutaneous melanocytosis,en,1,11896,89826,Rare skin disease,en,2294,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2295,2482,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2482,en,Melhem-Fahl syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2295,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19510,247165,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247165,en,Infantile mercury poisoning,en,1,15031,108999,Rare disorder due to toxic effects,en,19510,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2290,2477,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2477,en,Megalencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2290,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2291,2479,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479,en,Megalocornea-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2291,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2288,2475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475,en,White forelock with malformations,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2288,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2289,2476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2476,en,Dysraphism-cleft lip/palate-limb reduction defects syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2289,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2286,2473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2473,en,McKusick-Kaufman syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2286,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2284,2471,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2471,en,McDonough syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2284,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2283,2470,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470,en,Matthew-Wood syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2283,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2279,561,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561,en,Marshall-Smith syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2279,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2278,2464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2464,en,"Marfanoid syndrome, De Silva type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2278,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2277,559,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559,en,Marinesco-Sjgren syndrome,en,1,13024,98006,Rare neurologic disease,en,2277,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2276,2463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2463,en,Marfanoid habitus-autosomal recessive intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2276,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2275,2462,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462,en,Shprintzen-Goldberg syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2275,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2273,2461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461,en,Marden-Walker syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2273,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19664,251630,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251630,en,Anaplastic oligodendroglioma,en,1,19592,250908,Rare neoplastic disease,en,19664,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2065,2172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2172,en,Microcephaly-glomerulonephritis-marfanoid habitus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2065,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19666,251636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251636,en,Ependymoma,en,1,19592,250908,Rare neoplastic disease,en,19666,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19667,251639,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251639,en,Subependymoma,en,1,19592,250908,Rare neoplastic disease,en,19667,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2069,2176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176,en,Infantile systemic hyalinosis,en,1,12333,93419,Rare bone disease,en,2069,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19668,251643,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251643,en,Myxopapillary ependymoma,en,1,19592,250908,Rare neoplastic disease,en,19668,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19669,251646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251646,en,Anaplastic ependymoma,en,1,19592,250908,Rare neoplastic disease,en,19669,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2071,2181,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2181,en,Hydrocephaly-tall stature-joint laxity syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2071,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19671,251656,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251656,en,Oligoastrocytoma,en,1,19592,250908,Rare neoplastic disease,en,19671,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2070,2180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2180,en,Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2070,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19672,251663,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251663,en,Anaplastic oligoastrocytoma,en,1,19592,250908,Rare neoplastic disease,en,19672,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2072,2186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186,en,Hydrocephalus-blue sclerae-nephropathy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2072,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19674,251671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251671,en,Angiocentric glioma,en,1,19592,250908,Rare neoplastic disease,en,19674,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2075,2189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189,en,Hydrolethalus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2075,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19675,251674,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251674,en,Chordoid glioma,en,1,19592,250908,Rare neoplastic disease,en,19675,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19676,251679,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251679,en,Astroblastoma,en,1,19592,250908,Rare neoplastic disease,en,19676,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2079,312,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312,en,Autosomal dominant epidermolytic ichthyosis,en,1,11896,89826,Rare skin disease,en,2079,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2078,2196,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196,en,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,en,1,12456,93626,Rare renal disease,en,2078,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19649,251576,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251576,en,Gliosarcoma,en,1,19592,250908,Rare neoplastic disease,en,19649,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2050,2150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150,en,Hirschsprung disease-type D brachydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2050,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19651,251582,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251582,en,Gliomatosis cerebri,en,1,19592,250908,Rare neoplastic disease,en,19651,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19650,251579,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251579,en,Giant cell glioblastoma,en,1,19592,250908,Rare neoplastic disease,en,19650,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2051,2152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152,en,Mowat-Wilson syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2051,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2052,2153,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153,en,Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2052,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19652,251589,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251589,en,Anaplastic astrocytoma,en,1,19592,250908,Rare neoplastic disease,en,19652,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19655,251598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251598,en,Protoplasmic astrocytoma,en,1,19592,250908,Rare neoplastic disease,en,19655,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2054,2155,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155,en,Hirschsprung disease-deafness-polydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2054,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19654,251595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251595,en,Diffuse astrocytoma,en,1,19592,250908,Rare neoplastic disease,en,19654,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19657,251604,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251604,en,Gemistocytic astrocytoma,en,1,19592,250908,Rare neoplastic disease,en,19657,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19656,251601,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251601,en,Fibrillary astrocytoma,en,1,19592,250908,Rare neoplastic disease,en,19656,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2057,2158,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2158,en,Histidinuria-renal tubular defect syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,2057,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19659,251612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251612,en,Pilocytic astrocytoma,en,1,19592,250908,Rare neoplastic disease,en,19659,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2058,2163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163,en,Holoprosencephaly-craniosynostosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2058,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19658,251607,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251607,en,Pleomorphic xanthoastrocytoma,en,1,19592,250908,Rare neoplastic disease,en,19658,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19661,251618,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251618,en,Subependymal giant cell astrocytoma,en,1,19592,250908,Rare neoplastic disease,en,19661,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2060,2165,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2165,en,Holoprosencephaly-caudal dysgenesis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2060,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19660,251615,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251615,en,Pilomyxoid astrocytoma,en,1,19592,250908,Rare neoplastic disease,en,19660,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2061,2166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2166,en,Holoprosencephaly-postaxial polydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2061,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19663,251627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251627,en,Oligodendroglioma,en,1,19592,250908,Rare neoplastic disease,en,19663,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2062,2167,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167,en,Holzgreve syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2062,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19662,251623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251623,en,Pituicytoma,en,1,19592,250908,Rare neoplastic disease,en,19662,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2063,2169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169,en,Methylcobalamin deficiency type cblE,en,1,10507,68367,Rare inborn errors of metabolism,en,2063,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19698,251927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251927,en,Extraventricular neurocytoma,en,1,19592,250908,Rare neoplastic disease,en,19698,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19699,251931,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251931,en,Cerebellar liponeurocytoma,en,1,19592,250908,Rare neoplastic disease,en,19699,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2098,2222,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222,en,Hypertrichosis lanuginosa congenita,en,1,11896,89826,Rare skin disease,en,2098,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19696,251919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251919,en,Pineal parenchymal tumor of intermediate differenciation,en,1,19592,250908,Rare neoplastic disease,en,19696,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2097,2220,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220,en,Hypertrichosis cubiti,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2097,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2103,1051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051,en,Ramos-Arroyo syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2103,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19702,251940,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251940,en,Desmoplastic infantile astrocytoma/ganglioglioma,en,1,19592,250908,Rare neoplastic disease,en,19702,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19703,251946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251946,en,Dysembryoplastic neuroepithelial tumor,en,1,19592,250908,Rare neoplastic disease,en,19703,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2102,2228,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228,en,Hypodontia-dysplasia of nails syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2102,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2100,2224,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224,en,Hypertryptophanemia,en,1,10507,68367,Rare inborn errors of metabolism,en,2100,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19701,251937,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251937,en,Gangliocytoma,en,1,19592,250908,Rare neoplastic disease,en,19701,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2107,2232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2232,en,Primary hypergonadotropic hypogonadism-partial alopecia syndrome,en,1,12996,97978,Rare endocrine disease,en,2107,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19706,251962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251962,en,Papillary glioneuronal tumor,en,1,19592,250908,Rare neoplastic disease,en,19706,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19707,251975,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251975,en,Rosette-forming glioneuronal tumor,en,1,19592,250908,Rare neoplastic disease,en,19707,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2105,2230,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230,en,Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome,en,1,12996,97978,Rare endocrine disease,en,2105,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19704,251949,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251949,en,Ganglioglioma,en,1,19592,250908,Rare neoplastic disease,en,19704,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2104,2229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229,en,Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2104,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19705,251957,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251957,en,Anaplastic ganglioglioma,en,1,19592,250908,Rare neoplastic disease,en,19705,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19710,252006,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252006,en,Yolk sac tumor of central nervous system,en,1,19592,250908,Rare neoplastic disease,en,19710,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2111,2238,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2238,en,Familial isolated hypoparathyroidism,en,1,12996,97978,Rare endocrine disease,en,2111,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19711,252015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252015,en,Choriocarcinoma of the central nervous system,en,1,19592,250908,Rare neoplastic disease,en,19711,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2110,2237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237,en,Hypoparathyroidism-sensorineural deafness-renal disease syndrome,en,1,12456,93626,Rare renal disease,en,2110,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2109,2235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235,en,Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,2109,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19708,251992,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251992,en,Ganglioneuroma,en,1,19592,250908,Rare neoplastic disease,en,19708,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2108,2234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234,en,Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2108,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19683,251867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251867,en,Classic medulloblastoma,en,1,19592,250908,Rare neoplastic disease,en,19683,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2082,2199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2199,en,Epidermolytic palmoplantar keratoderma,en,1,11896,89826,Rare skin disease,en,2082,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19682,251863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251863,en,Desmoplastic/nodular medulloblastoma,en,1,19592,250908,Rare neoplastic disease,en,19682,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2083,2200,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2200,en,Focal palmoplantar and gingival keratoderma,en,1,11896,89826,Rare skin disease,en,2083,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2080,2198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198,en,Palmoplantar keratoderma-esophageal carcinoma syndrome,en,1,11896,89826,Rare skin disease,en,2080,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19681,251858,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251858,en,Medulloblastoma with extensive nodularity,en,1,19592,250908,Rare neoplastic disease,en,19681,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2081,495,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495,en,Transgrediens et progrediens palmoplantar keratoderma,en,1,11896,89826,Rare skin disease,en,2081,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19680,251855,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251855,en,Anaplastic/large cell medulloblastoma,en,1,19592,250908,Rare neoplastic disease,en,19680,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19687,251883,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251883,en,Medulloepithelioma of the central nervous system,en,1,19592,250908,Rare neoplastic disease,en,19687,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2087,2206,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2206,en,Ankylosing vertebral hyperostosis with tylosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2087,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19686,251880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251880,en,Ependymoblastoma,en,1,19592,250908,Rare neoplastic disease,en,19686,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2084,2201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2201,en,Palmoplantar keratoderma-spastic paralysis syndrome,en,1,11896,89826,Rare skin disease,en,2084,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19685,251877,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251877,en,Ganglioneuroblastoma,en,1,19592,250908,Rare neoplastic disease,en,19685,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2085,2202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202,en,Palmoplantar keratoderma-deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2085,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19691,251902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251902,en,Atypical papilloma of choroid plexus,en,1,19592,250908,Rare neoplastic disease,en,19691,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19690,251899,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251899,en,Choroid plexus carcinoma,en,1,19592,250908,Rare neoplastic disease,en,19690,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2091,2213,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213,en,Hypertelorism-microtia-facial clefting syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2091,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2089,2211,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2211,en,Hypertelorism-hypospadias-polysyndactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2089,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19695,251915,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251915,en,Papillary tumor of the pineal region,en,1,19592,250908,Rare neoplastic disease,en,19695,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19694,251912,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251912,en,Pineocytoma,en,1,19592,250908,Rare neoplastic disease,en,19694,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2095,2218,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218,en,Cervical hypertrichosis-peripheral neuropathy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2095,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19693,251909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251909,en,Pineoblastoma,en,1,19592,250908,Rare neoplastic disease,en,19693,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2092,2215,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215,en,Multiple pterygium-malignant hyperthermia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2092,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2093,2216,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216,en,Maternal hyperthermia-induced birth defects,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2093,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19604,251019,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019,en,2q32q33 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19604,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2133,2266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266,en,"Hypotrichosis-intellectual disability, Lopes type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2133,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19605,251028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028,en,SATB2-associated syndrome due to a chromosomal rearrangement,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19605,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2135,2269,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269,en,Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2135,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19607,251038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251038,en,3q29 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19607,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19600,250999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250999,en,1q41q42 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19600,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2129,2261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261,en,"Hypospadias-intellectual disability, Goldblatt type syndrome",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2129,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19601,251004,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251004,en,Paternal uniparental disomy of chromosome 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19601,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19602,251009,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251009,en,Maternal uniparental disomy of chromosome 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19602,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2130,672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672,en,Pallister-Hall syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2130,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19603,251014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251014,en,2q31.1 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19603,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2141,455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=455,en,Superficial epidermolytic ichthyosis,en,1,11896,89826,Rare skin disease,en,2141,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19612,251061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251061,en,7q31 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19612,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19613,251066,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251066,en,8p11.2 deletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19613,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2140,2272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2272,en,Ichthyosis-oral and digital anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2140,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19614,251071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071,en,8p23.1 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19614,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2143,2274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2274,en,Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,en,1,13024,98006,Rare neurologic disease,en,2143,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19615,251076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251076,en,8p23.1 duplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19615,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2142,2273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273,en,Ichthyosis follicularis-alopecia-photophobia syndrome,en,1,11896,89826,Rare skin disease,en,2142,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19608,251043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251043,en,Ring chromosome 5 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19608,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2136,139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139,en,CHILD syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2136,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19609,251046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251046,en,6p22 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19609,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2139,457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457,en,Harlequin ichthyosis,en,1,11896,89826,Rare skin disease,en,2139,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2138,2271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2271,en,Congenital ichthyosis-microcephalus-tetraplegia syndrome,en,1,11896,89826,Rare skin disease,en,2138,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19611,251056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251056,en,6q25 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19611,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2117,2246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2246,en,Cerebellar hypoplasia-tapetoretinal degeneration syndrome,en,1,13024,98006,Rare neurologic disease,en,2117,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19591,250831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250831,en,Logopenic progressive aphasia,en,1,13024,98006,Rare neurologic disease,en,19591,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2119,2249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249,en,Ulna hypoplasia-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2119,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2112,2239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2239,en,Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,en,1,12996,97978,Rare endocrine disease,en,2112,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2113,2241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241,en,Megacystis-microcolon-intestinal hypoperistalsis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2113,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19597,250984,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984,en,Autosomal recessive Stickler syndrome,en,1,12333,93419,Rare bone disease,en,19597,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2124,2256,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256,en,Fibulo-ulnar hypoplasia-renal anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2124,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2125,2257,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2257,en,Primary pulmonary hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2125,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19596,250977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977,en,AICA-ribosiduria,en,1,13024,98006,Rare neurologic disease,en,19596,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19599,250994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250994,en,1q21.1 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19599,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19598,250989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250989,en,1q21.1 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19598,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2120,2250,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250,en,Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2120,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19593,250923,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923,en,Isolated aniridia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19593,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2121,2251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2251,en,Thumb deformity-alopecia-pigmentation anomaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2121,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2122,2252,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2252,en,Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2122,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19595,250972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972,en,Polymicrogyria with optic nerve hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19595,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2123,2255,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2255,en,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,en,1,12996,97978,Rare endocrine disease,en,2123,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19594,250932,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932,en,Autosomal dominant optic atrophy and peripheral neuropathy,en,1,12984,97966,Rare ophthalmic disorder,en,19594,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19638,251380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380,en,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,en,1,13010,97992,Rare hematologic disease,en,19638,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2167,2306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2306,en,Isotretinoin-like syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2167,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19639,251383,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383,en,CK syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19639,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2166,2305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305,en,Isotretinoin syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2166,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19636,251370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370,en,Sickle cell-hemoglobin D disease syndrome,en,1,13010,97992,Rare hematologic disease,en,19636,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19637,251375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375,en,Sickle cell-hemoglobin E disease syndrome,en,1,13010,97992,Rare hematologic disease,en,19637,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19634,251359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251359,en,Sickle cell-beta-thalassemia disease syndrome,en,1,13010,97992,Rare hematologic disease,en,19634,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19635,251365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251365,en,Sickle cell-hemoglobin C disease syndrome,en,1,13010,97992,Rare hematologic disease,en,19635,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2162,2295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295,en,Familial articular hypermobility syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,2162,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2175,2319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319,en,Juberg-Hayward syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2175,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19644,251523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523,en,Hyperzincemia and hypercalprotectinemia,en,1,10507,68367,Rare inborn errors of metabolism,en,19644,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2173,2316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316,en,Johnson neuroectodermal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2173,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2172,2315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315,en,Johanson-Blizzard syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2172,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19642,251510,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510,en,"46,XY partial gonadal dysgenesis",en,1,12469,93890,Rare developmental defect during embryogenesis,en,19642,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19643,251515,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251515,en,Distal arthrogryposis type 10,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19643,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2170,2310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2310,en,Absence deformity of leg-cataract syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2170,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2169,2309,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309,en,Pachyonychia congenita,en,1,11896,89826,Rare skin disease,en,2169,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19640,251393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393,en,Localized junctional epidermolysis bullosa,en,1,11896,89826,Rare skin disease,en,19640,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2168,2307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307,en,IVIC syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2168,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19623,251295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251295,en,Pigmented paravenous retinochoroidal atrophy,en,1,12984,97966,Rare ophthalmic disorder,en,19623,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19622,251290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290,en,Parietal foramina with clavicular hypoplasia,en,1,12333,93419,Rare bone disease,en,19622,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2151,2282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282,en,Dysmorphism-short stature-deafness-difference of sex development syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2151,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19621,251287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251287,en,Benign concentric annular macular dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,19621,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19620,251282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251282,en,Autosomal dominant spastic ataxia type 1,en,1,13024,98006,Rare neurologic disease,en,19620,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19619,251279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251279,en,Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,19619,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19618,251274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274,en,Familial hyperaldosteronism type III,en,1,12996,97978,Rare endocrine disease,en,19618,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2147,2278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278,en,Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2147,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19616,251262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251262,en,Familial osteochondritis dissecans,en,1,12333,93419,Rare bone disease,en,19616,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2158,2291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2291,en,Congenital velopharyngeal incompetence,en,1,13054,98036,Rare otorhinolaryngologic disease,en,2158,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19631,251347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347,en,Ataxia-telangiectasia-like disorder,en,1,13024,98006,Rare neurologic disease,en,19631,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19630,251332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251332,en,Unexplained long-lasting fever/inflammatory syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,19630,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19629,251328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251328,en,Unclassified vasculitis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,19629,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2156,2289,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289,en,Neuronal intranuclear inclusion disease,en,1,13024,98006,Rare neurologic disease,en,2156,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19628,251325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251325,en,Drug-induced vasculitis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,19628,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2157,2290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290,en,Microvillus inclusion disease,en,1,12954,97935,Rare gastroenterologic disease,en,2157,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2154,2287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2287,en,Fused mandibular incisors,en,1,13044,98026,Rare odontologic disease,en,2154,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2152,2285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2285,en,Primary basilar invagination,en,1,13024,98006,Rare neurologic disease,en,2152,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19625,251307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251307,en,Idiopathic recurrent pericarditis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,19625,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19624,251304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251304,en,Infantile onset panniculitis with uveitis and systemic granulomatosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,19624,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2442,2674,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674,en,Cyprus facial-neuromusculoskeletal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2442,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2441,2673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673,en,Neurofaciodigitorenal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2441,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2440,2672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2672,en,Neuhauser-Eichner-Opitz syndrome,en,1,13024,98006,Rare neurologic disease,en,2440,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19790,254857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254857,en,Lethal infantile mitochondrial myopathy,en,1,10507,68367,Rare inborn errors of metabolism,en,19790,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2446,2678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2678,en,Familial isolated caf-au-lait macules,en,1,11896,89826,Rare skin disease,en,2446,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19791,254864,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254864,en,Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,19791,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19788,254851,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254851,en,Mitochondrial DNA-related dystonia,en,1,10507,68367,Rare inborn errors of metabolism,en,19788,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19789,254854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254854,en,Pure mitochondrial myopathy,en,1,10507,68367,Rare inborn errors of metabolism,en,19789,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2435,2668,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2668,en,Nephropathy-deafness-hyperparathyroidism syndrome,en,1,13054,98036,Rare otorhinolaryngologic disease,en,2435,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2434,2663,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663,en,Nathalie syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2434,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2433,2662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662,en,Keipert syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2433,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2439,2671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671,en,Neu-Laxova syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2439,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2438,1475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475,en,Renal coloboma syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2438,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2437,2670,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670,en,Pierson syndrome,en,1,12456,93626,Rare renal disease,en,2437,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2436,2669,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669,en,Nephrosis-deafness-urinary tract-digital malformations syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2436,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19803,254930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930,en,Combined oxidative phosphorylation defect type 7,en,1,10507,68367,Rare inborn errors of metabolism,en,19803,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19802,254925,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254925,en,Combined oxidative phosphorylation defect type 4,en,1,10507,68367,Rare inborn errors of metabolism,en,19802,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2459,2697,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697,en,Arthrogryposis-renal dysfunction-cholestasis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2459,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19801,254920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254920,en,Combined oxidative phosphorylation defect type 2,en,1,10507,68367,Rare inborn errors of metabolism,en,19801,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2457,2695,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695,en,Bifid nose,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2457,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19800,254913,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254913,en,Isolated ATP synthase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,19800,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19807,255182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182,en,Pyruvate dehydrogenase E3-binding protein deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,19807,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2462,2701,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701,en,Noonan syndrome-like disorder with loose anagen hair,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2462,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19806,255138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138,en,Pyruvate dehydrogenase E1-beta deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,19806,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19805,255132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132,en,Adult-onset autosomal recessive sideroblastic anemia,en,1,13010,97992,Rare hematologic disease,en,19805,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2460,2698,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2698,en,Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,en,1,11896,89826,Rare skin disease,en,2460,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2461,2699,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2699,en,Median nodule of the upper lip,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2461,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19795,254886,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886,en,Autosomal recessive progressive external ophthalmoplegia,en,1,10507,68367,Rare inborn errors of metabolism,en,19795,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19794,254881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254881,en,Spinocerebellar ataxia with epilepsy,en,1,10507,68367,Rare inborn errors of metabolism,en,19794,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19793,254875,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875,en,"Mitochondrial DNA depletion syndrome, myopathic form",en,1,10507,68367,Rare inborn errors of metabolism,en,19793,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19799,254905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254905,en,Isolated cytochrome C oxidase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,19799,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19798,254902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254902,en,Renal tubulopathy-encephalopathy-liver failure syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,19798,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2452,2690,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2690,en,Neutropenia-monocytopenia-deafness syndrome,en,1,13022,98004,Rare immune disease,en,2452,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19797,254898,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898,en,Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,19797,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19796,254892,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892,en,Autosomal dominant progressive external ophthalmoplegia,en,1,10507,68367,Rare inborn errors of metabolism,en,19796,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2473,2712,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712,en,Oculofaciocardiodental syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2473,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2475,2714,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714,en,Oculo-palato-cerebral syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2475,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2474,2713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2713,en,Oculoosteocutaneous syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2474,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2476,2715,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715,en,Severe oculo-renal-cerebellar syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2476,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2479,2718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718,en,Oculotrichodysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2479,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2478,2717,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717,en,Oculotrichoanal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2478,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2465,2704,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704,en,Ochoa syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2465,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2464,2703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2703,en,Port-wine nevi-mega cisterna magna-hydrocephalus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2464,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19809,255210,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255210,en,Mitochondrial DNA-associated Leigh syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,19809,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19812,255229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229,en,Navajo neurohepatopathy,en,1,10507,68367,Rare inborn errors of metabolism,en,19812,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2468,2707,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707,en,"Oculocerebrofacial syndrome, Kaufman type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2468,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19813,255235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235,en,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",en,1,10507,68367,Rare inborn errors of metabolism,en,19813,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2471,2710,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710,en,Oculodentodigital dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2471,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2470,2709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2709,en,"Oculodental syndrome, Rutherfurd type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2470,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2489,2728,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728,en,"Blepharophimosis-intellectual disability syndrome, Ohdo type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2489,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2490,2730,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2730,en,Postaxial tetramelic oligodactyly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2490,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2492,2732,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2732,en,Olivopontocerebellar atrophy-deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2492,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2493,2733,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2733,en,Omodysplasia,en,1,12333,93419,Rare bone disease,en,2493,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2480,2719,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719,en,"Oculocerebral hypopigmentation syndrome, Cross type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2480,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2481,2720,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720,en,"Oculocerebral hypopigmentation syndrome, Preus type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2481,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2482,2721,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721,en,Odonto-onycho-dermal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2482,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2483,2722,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722,en,Odonto-onycho dysplasia-alopecia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2483,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2484,2723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723,en,Odontotrichomelic syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2484,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2485,2724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2724,en,Odontomatosis-aortae esophagus stenosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2485,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19831,260305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=260305,en,Autosomal recessive sideroblastic anemia,en,1,13010,97992,Rare hematologic disease,en,19831,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2511,2755,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755,en,Orofaciodigital syndrome type 8,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2511,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2510,2754,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754,en,Orofaciodigital syndrome type 6,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2510,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19727,252164,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252164,en,Benign schwannoma,en,1,19592,250908,Rare neoplastic disease,en,19727,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2509,2753,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753,en,Orofaciodigital syndrome type 4,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2509,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2508,2752,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752,en,Orofaciodigital syndrome type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2508,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2507,2751,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751,en,Orofaciodigital syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2507,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19722,252128,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252128,en,Malignant peripheral nerve sheath tumor with perineurial differentiation,en,1,19592,250908,Rare neoplastic disease,en,19722,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2506,2750,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750,en,Orofaciodigital syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2506,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19718,252050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252050,en,Primary melanoma of the central nervous system,en,1,19592,250908,Rare neoplastic disease,en,19718,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2503,2743,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2743,en,Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2503,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19719,252054,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252054,en,Hemangioblastoma,en,1,19592,250908,Rare neoplastic disease,en,19719,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2501,2741,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2741,en,Ophthalmomandibulomelic dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2501,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19716,252031,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252031,en,Diffuse leptomeningeal melanocytosis,en,1,19592,250908,Rare neoplastic disease,en,19716,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19717,252046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252046,en,Meningeal melanocytoma,en,1,19592,250908,Rare neoplastic disease,en,19717,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19712,252018,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252018,en,Teratoma of the central nervous system,en,1,19592,250908,Rare neoplastic disease,en,19712,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2497,661,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661,en,Congenital central hypoventilation syndrome,en,1,13024,98006,Rare neurologic disease,en,2497,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2496,2736,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736,en,Lethal omphalocele-cleft palate syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2496,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19713,252021,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252021,en,Mixed germ cell tumor of central nervous system,en,1,19592,250908,Rare neoplastic disease,en,19713,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2526,2776,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776,en,Autosomal recessive distal osteolysis syndrome,en,1,12333,93419,Rare bone disease,en,2526,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2527,2777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777,en,Osteomesopyknosis,en,1,12333,93419,Rare bone disease,en,2527,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19742,254361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254361,en,Plectin-related limb-girdle muscular dystrophy R17,en,1,13024,98006,Rare neurologic disease,en,19742,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2524,2774,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774,en,Multicentric carpo-tarsal osteolysis with or without nephropathy,en,1,12333,93419,Rare bone disease,en,2524,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19740,254351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254351,en,Distal 7q11.23 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19740,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2522,2769,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2769,en,"Familial osteodysplasia, Anderson type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2522,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19739,254346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254346,en,19p13.12 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19739,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2523,2770,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770,en,Nasu-Hakola disease,en,1,12333,93419,Rare bone disease,en,2523,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19738,254343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343,en,Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,en,1,13024,98006,Rare neurologic disease,en,19738,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2520,2767,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2767,en,Carpotarsal osteochondromatosis,en,1,12333,93419,Rare bone disease,en,2520,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19736,254334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254334,en,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,en,1,13024,98006,Rare neurologic disease,en,19736,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2521,2768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2768,en,Blount disease,en,1,12333,93419,Rare bone disease,en,2521,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2516,2762,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762,en,Progressive osseous heteroplasia,en,1,12333,93419,Rare bone disease,en,2516,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19733,252212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252212,en,Malignant triton tumor,en,1,19592,250908,Rare neoplastic disease,en,19733,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2517,2763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763,en,Osteocraniostenosis,en,1,12333,93419,Rare bone disease,en,2517,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19732,252206,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252206,en,Melanoma and neural system tumor syndrome,en,1,13024,98006,Rare neurologic disease,en,19732,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19731,252202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202,en,Constitutional mismatch repair deficiency syndrome,en,1,13024,98006,Rare neurologic disease,en,19731,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2514,2759,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2759,en,Imperforate oropharynx-costovertebral anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2514,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2515,2760,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760,en,OSLAM syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2515,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19729,252183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252183,en,Neurofibroma,en,1,19592,250908,Rare neoplastic disease,en,19729,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19728,252175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252175,en,Vestibular schwannoma,en,1,19592,250908,Rare neoplastic disease,en,19728,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19756,254516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516,en,Temple syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19756,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2541,2793,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793,en,Otoonychoperoneal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2541,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2540,2792,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792,en,Otofaciocervical syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2540,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19757,254519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254519,en,Kagami-Ogata syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19757,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19758,254525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525,en,Temple syndrome due to paternal 14q32.2 microdeletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19758,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2543,2798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798,en,Pachygyria-intellectual disability-epilepsy syndrome,en,1,13024,98006,Rare neurologic disease,en,2543,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2542,2796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796,en,Pachydermoperiostosis,en,1,12333,93419,Rare bone disease,en,2542,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19759,254528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528,en,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19759,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19752,254478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254478,en,Lichen planus pemphigoides,en,1,11896,89826,Rare skin disease,en,19752,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2537,2789,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789,en,Lateral meningocele syndrome,en,1,12333,93419,Rare bone disease,en,2537,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2536,2788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788,en,Osteoporosis-pseudoglioma syndrome,en,1,12333,93419,Rare bone disease,en,2536,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19753,254492,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254492,en,Frontal fibrosing alopecia,en,1,11896,89826,Rare skin disease,en,19753,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2539,2791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791,en,Otodental syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2539,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19754,254504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254504,en,Inhalational botulism,en,1,10557,68416,Rare infectious disease,en,19754,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2538,2790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790,en,"Endosteal hyperostosis, Worth type",en,1,12333,93419,Rare bone disease,en,2538,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19755,254509,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254509,en,Iatrogenic botulism,en,1,10557,68416,Rare infectious disease,en,19755,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19748,254411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254411,en,Annular atrophic lichen planus,en,1,11896,89826,Rare skin disease,en,19748,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19749,254424,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254424,en,Annular lichen planus,en,1,11896,89826,Rare skin disease,en,19749,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2532,2783,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783,en,Autosomal dominant osteopetrosis type 1,en,1,12333,93419,Rare bone disease,en,2532,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2535,2787,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2787,en,Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome,en,1,12333,93419,Rare bone disease,en,2535,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19750,254449,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254449,en,Atrophic lichen planus,en,1,11896,89826,Rare skin disease,en,19750,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2534,2786,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2786,en,Osteoporosis-oculocutaneous hypopigmentation syndrome,en,1,12333,93419,Rare bone disease,en,2534,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19751,254463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254463,en,Lichen planus pigmentosus,en,1,11896,89826,Rare skin disease,en,19751,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2529,2780,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780,en,Osteopathia striata-cranial sclerosis syndrome,en,1,12333,93419,Rare bone disease,en,2529,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2528,2779,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779,en,Osteopathia striata-pigmentary dermopathy-white forelock syndrome,en,1,12333,93419,Rare bone disease,en,2528,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19746,254379,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254379,en,Linear lichen planus,en,1,11896,89826,Rare skin disease,en,19746,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19747,254395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254395,en,Actinic lichen planus,en,1,11896,89826,Rare skin disease,en,19747,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2530,667,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667,en,Autosomal recessive malignant osteopetrosis,en,1,12333,93419,Rare bone disease,en,2530,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2556,2815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2815,en,Spastic paraparesis-deafness syndrome,en,1,13024,98006,Rare neurologic disease,en,2556,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2559,2818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2818,en,Spastic paraplegia-glaucoma-intellectual disability syndrome,en,1,13024,98006,Rare neurologic disease,en,2559,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2552,2808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2808,en,Laryngeal abductor paralysis,en,1,13054,98036,Rare otorhinolaryngologic disease,en,2552,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2553,2809,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2809,en,Familial recurrent peripheral facial palsy,en,1,13024,98006,Rare neurologic disease,en,2553,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2554,2812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2812,en,Parana hard skin syndrome,en,1,11896,89826,Rare skin disease,en,2554,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2548,2805,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805,en,Partial pancreatic agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2548,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19765,254698,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254698,en,Epithelioid trophoblastic tumor,en,1,19592,250908,Rare neoplastic disease,en,19765,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19764,254693,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254693,en,Partial hydatidiform mole,en,1,19592,250908,Rare neoplastic disease,en,19764,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2549,675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675,en,Annular pancreas,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2549,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2550,2807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2807,en,Papilloma of choroid plexus,en,1,13024,98006,Rare neurologic disease,en,2550,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2551,678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678,en,Papillon-Lefvre syndrome,en,1,11896,89826,Rare skin disease,en,2551,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19766,254704,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254704,en,Genetic hyperferritinemia without iron overload,en,1,13071,98053,Rare genetic disease,en,19766,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19761,254534,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534,en,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19761,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2545,2802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802,en,X-linked sideroblastic anemia and spinocerebellar ataxia,en,1,13024,98006,Rare neurologic disease,en,2545,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19760,254531,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531,en,Temple syndrome due to paternal 14q32.2 hypomethylation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19760,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19763,254688,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254688,en,Complete hydatidiform mole,en,1,19592,250908,Rare neoplastic disease,en,19763,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2547,2804,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804,en,W syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2547,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2304,2491,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2491,en,Mllerian duct anomalies-limb anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2304,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2305,2492,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492,en,FATCO syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2305,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2310,2498,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498,en,Syndactyly type 8,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2310,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2311,2499,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2499,en,Metachondromatosis,en,1,12333,93419,Rare bone disease,en,2311,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2308,2496,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496,en,Mesomelia-synostoses syndrome,en,1,12333,93419,Rare bone disease,en,2308,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2309,2497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2497,en,Upper limb mesomelic dysplasia,en,1,12333,93419,Rare bone disease,en,2309,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2314,2502,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502,en,Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,en,1,12333,93419,Rare bone disease,en,2314,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2312,2500,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2500,en,Acrogeria,en,1,11896,89826,Rare skin disease,en,2312,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2313,2501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2501,en,"Metaphyseal chondrodysplasia, Spahr type",en,1,12333,93419,Rare bone disease,en,2313,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2316,2504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2504,en,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,en,1,12333,93419,Rare bone disease,en,2316,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2317,2505,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2505,en,Multiple benign circumferential skin creases on limbs,en,1,11896,89826,Rare skin disease,en,2317,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2323,2511,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511,en,Microbrachycephaly-ptosis-cleft lip syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2323,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2322,2510,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510,en,Micro syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2322,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2320,2508,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508,en,Corpus callosum agenesis-abnormal genitalia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2320,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2327,2516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2516,en,Microcephaly-cardiac defect-lung malsegmentation syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2327,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2326,2515,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515,en,Microcephaly-cardiomyopathy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2326,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2325,2514,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514,en,Autosomal dominant primary microcephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2325,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2324,2513,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2513,en,Microcephaly-albinism-digital anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2324,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2331,2521,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521,en,Microcephaly-cleft palate-abnormal retinal pigmentation syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2331,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2329,2518,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518,en,Autosomal recessive chorioretinopathy-microcephaly syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,2329,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2334,2524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524,en,Pontocerebellar hypoplasia type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2334,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2333,2523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523,en,Microcephaly-brain defect-spasticity-hypernatremia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2333,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2332,2522,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522,en,Microcephaly-cervical spine fusion anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2332,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2336,2526,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526,en,Microcephaly-lymphedema-chorioretinopathy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2336,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2338,2528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528,en,"Microcephaly-microcornea syndrome, Seemanova type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2338,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2342,2533,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533,en,Microcephaly-deafness-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2342,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2344,2536,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2536,en,Microcornea-glaucoma-absent frontal sinuses syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2344,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2353,2549,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549,en,Oculoauriculovertebral spectrum with radial defects,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2353,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2355,2551,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551,en,Microspherophakia-metaphyseal dysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2355,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2357,2554,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554,en,Ear-patella-short stature syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2357,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2359,2556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556,en,Microphthalmia with linear skin defects syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2359,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2361,2558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2558,en,Mikati-Najjar-Sahli syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2361,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2360,2557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557,en,Mietens syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2360,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2363,2561,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561,en,Pyramidal molars-abnormal upper lip syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2363,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2362,2560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560,en,Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome,en,1,13024,98006,Rare neurologic disease,en,2362,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2365,2564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2564,en,Tetramelic monodactyly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2365,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2364,2563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2563,en,MOMO syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2364,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2366,2565,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2565,en,Mononen-Karnes-Senac syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2366,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2374,2574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2574,en,Moynahan syndrome,en,1,13024,98006,Rare neurologic disease,en,2374,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2375,575,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575,en,Muckle-Wells syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,2375,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2372,2572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2572,en,Spastic ataxia-corneal dystrophy syndrome,en,1,13024,98006,Rare neurologic disease,en,2372,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2373,2573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2573,en,Moyamoya disease,en,1,13024,98006,Rare neurologic disease,en,2373,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2370,2570,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2570,en,Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2370,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2371,2571,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2571,en,X-linked immunoneurologic disorder,en,1,13024,98006,Rare neurologic disease,en,2371,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19855,261183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261183,en,15q11.2 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19855,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2383,2585,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2585,en,Ataxia-pancytopenia syndrome,en,1,13024,98006,Rare neurologic disease,en,2383,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19853,261144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144,en,FOXG1 syndrome due to 14q12 microdeletion,en,1,13024,98006,Rare neurologic disease,en,19853,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19851,261120,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261120,en,14q11.2 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19851,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2378,2578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578,en,Mayer-Rokitansky-Kster-Hauser syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2378,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19850,261112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261112,en,Monosomy 9p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19850,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2379,2579,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2579,en,Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,en,1,13024,98006,Rare neurologic disease,en,2379,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19849,261102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261102,en,Distal 7q11.23 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19849,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2376,2576,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2576,en,Mulibrey nanism,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2376,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19862,261236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261236,en,16p13.11 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19862,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19863,261243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261243,en,16p13.11 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19863,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2390,2608,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608,en,N syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2390,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19860,261222,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222,en,Distal 16p11.2 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19860,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2389,1359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359,en,Carney complex,en,1,12996,97978,Rare endocrine disease,en,2389,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2388,2593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2593,en,Tubular aggregate myopathy,en,1,13024,98006,Rare neurologic disease,en,2388,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19861,261229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261229,en,14q11.2 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19861,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2387,2590,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590,en,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,en,1,13024,98006,Rare neurologic disease,en,2387,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19858,261204,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261204,en,16p11.2p12.2 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19858,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19859,261211,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261211,en,16p11.2p12.2 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19859,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2386,2589,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2589,en,Myoclonus-cerebellar ataxia-deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2386,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19856,261190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190,en,15q14 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19856,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2385,2588,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588,en,Myhre syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2385,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19857,261197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261197,en,Proximal 16p11.2 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19857,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19870,261295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261295,en,20p12.3 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19870,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19871,261304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261304,en,Paternal 20q13.2q13.3 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19871,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19868,261279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261279,en,17q23.1q23.2 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19868,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19869,261290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261290,en,Trisomy 17p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19869,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2396,2617,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2617,en,"Microcephalic primordial dwarfism, Montreal type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2396,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19866,261265,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261265,en,17q12 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19866,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19867,261272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261272,en,17q12 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19867,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2393,2616,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616,en,3M syndrome,en,1,12333,93419,Rare bone disease,en,2393,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19864,261250,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250,en,16q24.3 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19864,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2392,2613,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2613,en,Nail-patella-like renal disease,en,1,12456,93626,Rare renal disease,en,2392,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19865,261257,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261257,en,Distal 17p13.3 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19865,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19877,261344,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261344,en,Trisomy 1q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19877,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19876,261337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261337,en,Distal 22q11.2 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19876,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19879,261476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476,en,Xp21 deletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19879,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19878,261349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261349,en,2p15p16.1 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19878,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19873,261318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261318,en,Trisomy 20p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19873,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19872,261311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261311,en,20q13.33 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19872,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2401,2623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623,en,Geleophysic dysplasia,en,1,12333,93419,Rare bone disease,en,2401,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19875,261330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261330,en,Distal 22q11.2 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19875,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19874,261323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323,en,21q22.11q22.12 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19874,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19885,261524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261524,en,Paternal uniparental disomy of chromosome X,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19885,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2413,2639,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639,en,Fibular aplasia-complex brachydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2413,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19884,261519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261519,en,Maternal uniparental disomy of chromosome X,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19884,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19887,261534,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261534,en,"49,XXXYY syndrome",en,1,12469,93890,Rare developmental defect during embryogenesis,en,19887,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19886,261529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261529,en,Ring chromosome Y syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19886,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2408,2631,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631,en,Mesomelic dwarfism-cleft palate-camptodactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2408,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19881,261494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261494,en,Kleefstra syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19881,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19880,261483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261483,en,Xq27.3q28 duplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19880,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2409,2632,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632,en,Langer mesomelic dysplasia,en,1,12333,93419,Rare bone disease,en,2409,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2410,2633,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2633,en,"Mesomelic dysplasia, Nievergelt type",en,1,12333,93419,Rare bone disease,en,2410,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19882,261501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261501,en,Atypical Norrie disease due to Xp11.3 microdeletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19882,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2411,2634,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2634,en,"Mesomelic dwarfism, Reinhardt-Pfeiffer type",en,1,12333,93419,Rare bone disease,en,2411,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2421,2646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2646,en,Parastremmatic dwarfism,en,1,12333,93419,Rare bone disease,en,2421,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2420,2645,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645,en,Osteoglosphonic dysplasia,en,1,12333,93419,Rare bone disease,en,2420,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19893,261584,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584,en,Familial adenomatous polyposis due to 5q22.2 microdeletion,en,1,12954,97935,Rare gastroenterologic disease,en,19893,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19894,261600,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600,en,Alagille syndrome due to 20p12 microdeletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19894,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19895,261619,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619,en,Alagille syndrome due to a JAG1 point mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19895,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19888,261537,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537,en,Mowat-Wilson syndrome due to monosomy 2q22,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19888,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2417,2643,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643,en,"Microcephalic primordial dwarfism, Toriello type",en,1,12333,93419,Rare bone disease,en,2417,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19889,261552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552,en,Mowat-Wilson syndrome due to a ZEB2 point mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19889,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2418,2636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636,en,Microcephalic osteodysplastic primordial dwarfism types I and III,en,1,12333,93419,Rare bone disease,en,2418,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2429,2658,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658,en,Lenz-Majewski hyperostotic dwarfism,en,1,12333,93419,Rare bone disease,en,2429,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19896,261629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629,en,Alagille syndrome due to a NOTCH2 point mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19896,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19897,261638,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638,en,Okihiro syndrome due to 20q13 microdeletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19897,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19898,261647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647,en,Okihiro syndrome due to a point mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19898,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19899,261652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261652,en,Kleefstra syndrome due to a point mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19899,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20095,264200,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264200,en,14q22q23 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20095,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2747,3057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057,en,Monoamine oxidase A deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,2747,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2745,3055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055,en,X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2745,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2741,3052,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052,en,X-linked intellectual disability-seizures-psoriasis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2741,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2739,3047,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047,en,"Blepharophimosis-intellectual disability syndrome, SBBYS type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2739,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2737,3044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044,en,Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2737,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2735,3042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042,en,Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,en,1,13024,98006,Rare neurologic disease,en,2735,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2734,3041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041,en,Intellectual disability-balding-patella luxation-acromicria syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2734,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2732,3038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3038,en,Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2732,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20074,263665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263665,en,NK-cell enteropathy,en,1,12954,97935,Rare gastroenterologic disease,en,20074,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2729,3035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3035,en,Growth delay-hydrocephaly-lung hypoplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2729,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20073,263662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263662,en,Familial multiple meningioma,en,1,13024,98006,Rare neurologic disease,en,20073,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2728,3034,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3034,en,Delayed membranous cranial ossification,en,1,12333,93419,Rare bone disease,en,2728,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20070,263548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263548,en,Peeling skin syndrome type A,en,1,11896,89826,Rare skin disease,en,20070,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2726,3033,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3033,en,Renal tubular dysgenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2726,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20071,263553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263553,en,Peeling skin syndrome type B,en,1,11896,89826,Rare skin disease,en,20071,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2725,3032,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032,en,NPHP3-related Meckel-like syndrome,en,1,12456,93626,Rare renal disease,en,2725,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20068,263534,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263534,en,Acral peeling skin syndrome,en,1,11896,89826,Rare skin disease,en,20068,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20069,263543,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263543,en,Generalized peeling skin syndrome,en,1,11896,89826,Rare skin disease,en,20069,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20066,263516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516,en,Progressive myoclonic epilepsy type 3,en,1,13024,98006,Rare neurologic disease,en,20066,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20067,263524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263524,en,Acute necrotizing encephalopathy of childhood,en,1,10557,68416,Rare infectious disease,en,20067,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20064,263501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501,en,COG4-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,20064,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2720,3026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3026,en,Radial ray hypoplasia-choanal atresia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2720,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20065,263508,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508,en,COG1-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,20065,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20061,263482,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482,en,"Spondyloepiphyseal dysplasia, Maroteaux type",en,1,12333,93419,Rare bone disease,en,20061,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2716,3021,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021,en,RAPADILINO syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2716,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20060,263479,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263479,en,Fuchs heterochromic iridocyclitis,en,1,12984,97966,Rare ophthalmic disorder,en,20060,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20063,263494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494,en,DPM3-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,20063,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2718,3023,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023,en,External auditory canal atresia-vertical talus-hypertelorism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2718,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20062,263487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487,en,COG5-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,20062,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20057,263458,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263458,en,Hyperinsulinism due to INSR deficiency,en,1,12996,97978,Rare endocrine disease,en,20057,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20056,263455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455,en,Congenital hyperinsulinism due to HNF4A deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,20056,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2713,1832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1832,en,Lethal osteosclerotic bone dysplasia,en,1,12333,93419,Rare bone disease,en,2713,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2714,3018,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3018,en,Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,en,1,13046,98028,Rare circulatory system disease,en,2714,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2715,3019,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019,en,Ramon syndrome,en,1,12333,93419,Rare bone disease,en,2715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20058,263463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463,en,CHST3-related skeletal dysplasia,en,1,12333,93419,Rare bone disease,en,20058,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20053,263432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263432,en,Nevus of Ito,en,1,11896,89826,Rare skin disease,en,20053,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20052,263425,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263425,en,Nevus of Ota,en,1,11896,89826,Rare skin disease,en,20052,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2710,3015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015,en,Radio-renal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2710,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20054,263435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263435,en,Congenital smooth muscle hamartoma,en,1,11896,89826,Rare skin disease,en,20054,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2711,3016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3016,en,Absent radius-anogenital anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2711,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20049,263410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410,en,Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20049,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2705,3010,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010,en,Qazi-Markouizos syndrome,en,1,13024,98006,Rare neurologic disease,en,2705,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2706,3011,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3011,en,Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2706,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2707,769,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769,en,Rabson-Mendenhall syndrome,en,1,12996,97978,Rare endocrine disease,en,2707,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20050,263413,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263413,en,Angiosarcoma,en,1,19592,250908,Rare neoplastic disease,en,20050,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2701,3003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3003,en,Pyknoachondrogenesis,en,1,12333,93419,Rare bone disease,en,2701,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20044,263335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263335,en,Moderately-differentiated thymic neuroendocrine carcinoma,en,1,19592,250908,Rare neoplastic disease,en,20044,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20045,263339,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263339,en,Poorly differentiated thymic neuroendocrine carcinoma,en,1,19592,250908,Rare neoplastic disease,en,20045,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2703,3005,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005,en,Pyle disease,en,1,12333,93419,Rare bone disease,en,2703,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20046,263347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347,en,MRCS syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,20046,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20047,263352,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263352,en,Postcardiotomy right ventricular failure,en,1,12948,97929,Rare cardiac disease,en,20047,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2702,3004,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004,en,Mirror polydactyly-vertebral segmentation-limbs defects syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2702,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20040,263310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263310,en,Thymoma type A,en,1,19592,250908,Rare neoplastic disease,en,20040,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2697,2997,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2997,en,Ptosis-vocal cord paralysis syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,2697,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20041,263317,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263317,en,Thymoma type B,en,1,19592,250908,Rare neoplastic disease,en,20041,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20042,263324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263324,en,Thymoma type AB,en,1,19592,250908,Rare neoplastic disease,en,20042,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2699,2999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999,en,Ptosis-strabismus-ectopic pupils syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,2699,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20043,263331,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263331,en,Well-differentiated thymic neuroendocrine carcinoma,en,1,19592,250908,Rare neoplastic disease,en,20043,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2692,2990,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2990,en,Autosomal recessive multiple pterygium syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2692,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20039,263297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297,en,Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,20039,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2689,2987,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2987,en,Antecubital pterygium syndrome,en,1,11896,89826,Rare skin disease,en,2689,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2688,2985,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2985,en,Pseudoprogeria syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2688,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2691,2989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2989,en,Familial pterygium of the conjunctiva,en,1,12984,97966,Rare ophthalmic disorder,en,2691,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2690,2988,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2988,en,Pterygium colli-intellectual disability-digital anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2690,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2808,3138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138,en,Ulnar-mammary syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2808,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2814,3145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3145,en,Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome,en,1,12456,93626,Rare renal disease,en,2814,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2812,3143,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3143,en,Autoimmune polyendocrinopathy type 2,en,1,12996,97978,Rare endocrine disease,en,2812,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2813,3144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144,en,Schneckenbecken dysplasia,en,1,12333,93419,Rare bone disease,en,2813,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2803,3132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3132,en,Say-Barber-Miller syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2803,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2801,3130,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3130,en,Satoyoshi syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,2801,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2807,798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798,en,Schinzel-Giedion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2807,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2805,3134,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134,en,SCARF syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2805,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2795,3121,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3121,en,Ruvalcaba syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2795,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2785,2909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909,en,Rothmund-Thomson syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2785,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2784,3110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3110,en,Rombo syndrome,en,1,11896,89826,Rare skin disease,en,2784,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2789,3115,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3115,en,Roussy-Lvy syndrome,en,1,13024,98006,Rare neurologic disease,en,2789,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2776,3101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101,en,Richieri Costa-da Silva syndrome,en,1,13024,98006,Rare neurologic disease,en,2776,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2777,3102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102,en,Richieri Costa-Pereira syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2777,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2778,3104,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3104,en,Robin sequence-oligodactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2778,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2781,3107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107,en,Autosomal dominant Robinow syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2781,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2783,3109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109,en,Mayer-Rokitansky-Kster-Hauser syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2783,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2769,3086,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086,en,Autosomal dominant vitreoretinochoroidopathy,en,1,12984,97966,Rare ophthalmic disorder,en,2769,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2771,3088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088,en,Revesz syndrome,en,1,13010,97992,Rare hematologic disease,en,2771,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2773,3097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097,en,Meacham syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2773,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2774,3098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3098,en,"Rhizomelic syndrome, Urbach type",en,1,12333,93419,Rare bone disease,en,2774,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2765,3078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078,en,"Severe X-linked intellectual disability, Gustavson type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2765,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2764,3077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3077,en,X-linked intellectual disability-psychosis-macroorchidism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2764,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2767,3080,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3080,en,"Intellectual disability, Wolff type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2767,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2766,3079,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3079,en,"Intellectual disability, Buenos-Aires type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2766,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2752,3063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063,en,"X-linked intellectual disability, Snyder type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2752,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2757,3068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3068,en,Intellectual disability-myopathy-short stature-endocrine defect syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2757,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2614,2886,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886,en,TARP syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2614,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20215,268861,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268861,en,Primary tethered cord syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20215,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2613,2885,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2885,en,Piebald trait-neurologic defects syndrome,en,1,11896,89826,Rare skin disease,en,2613,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2612,2884,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2884,en,Piebaldism,en,1,11896,89826,Rare skin disease,en,2612,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2611,2881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2881,en,Cutaneous photosensitivity-lethal colitis syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,2611,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2610,2879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879,en,"Phocomelia, Schinzel type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2610,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2609,2878,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2878,en,Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2609,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20208,268826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268826,en,Parietal encephalocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20208,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20209,268829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268829,en,Basal encephalocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20209,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20223,268920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268920,en,Isolated megalencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20223,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20220,268882,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268882,en,Arnold-Chiari malformation type I,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20220,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2620,2892,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892,en,Pilodental dysplasia-refractive errors syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2620,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2619,2891,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2891,en,Pili torti-developmental delay-neurological abnormalities syndrome,en,1,11896,89826,Rare skin disease,en,2619,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2618,2889,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2889,en,Pili torti,en,1,11896,89826,Rare skin disease,en,2618,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2617,2890,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2890,en,Pili torti-onychodysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2617,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20216,268865,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268865,en,Neurenteric cyst,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20216,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2616,2888,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2888,en,Pierre Robin syndrome-faciodigital anomaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2616,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20217,268868,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268868,en,Isolated amyelia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20217,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2598,2865,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2865,en,Short stature-webbed neck-heart disease syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2598,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2599,2866,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2866,en,Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2599,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2596,2863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2863,en,Short stature-wormian bones-dextrocardia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2596,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2606,2875,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2875,en,Phakomatosis pigmentovascularis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2606,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20207,268823,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268823,en,Occipital encephalocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20207,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2607,2876,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2876,en,PHAVER syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2607,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20206,268820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268820,en,Cranial meningocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20206,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2605,2874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874,en,Phakomatosis pigmentokeratotica,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2605,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20203,268810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810,en,Isolated posterior meningocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20203,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2602,2871,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2871,en,Pfeiffer-Palm-Teller syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2602,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2603,2872,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872,en,"Cardiocranial syndrome, Pfeiffer type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2603,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2600,2867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2867,en,"Short stature, Brussels type",en,1,12333,93419,Rare bone disease,en,2600,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2601,2868,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2868,en,Short stature-valvular heart disease-characteristic facies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2601,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2580,2842,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842,en,Penoscrotal transposition,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2580,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2583,2848,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2848,en,Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,2583,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2582,2847,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2847,en,Pericardial and diaphragmatic defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2582,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2577,2838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838,en,Renal caliceal diverticuli-deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2577,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20176,268322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268322,en,Hereditary thrombocytopenia with normal platelets,en,1,13010,97992,Rare hematologic disease,en,20176,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2579,2840,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2840,en,Pelvic dysplasia-arthrogryposis of lower limbs syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2579,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2578,2839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2839,en,Pelvis-shoulder dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2578,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2589,2855,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855,en,Perrault syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2589,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2588,2854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854,en,Fuhrmann syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2588,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2590,708,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708,en,Peters anomaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2590,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20184,268363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268363,en,Open iniencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20184,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20185,268366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268366,en,Closed iniencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20185,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2584,2850,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850,en,Alopecia-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2584,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20165,268114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114,en,RAS-associated autoimmune leukoproliferative disease,en,1,13022,98004,Rare immune disease,en,20165,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2564,2825,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2825,en,PARC syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2564,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2565,2826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2826,en,Spastic paraplegia-precocious puberty syndrome,en,1,13024,98006,Rare neurologic disease,en,2565,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20167,268139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268139,en,Intraocular medulloepithelioma,en,1,19592,250908,Rare neoplastic disease,en,20167,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20166,268129,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268129,en,Spheroid body myopathy,en,1,13024,98006,Rare neurologic disease,en,20166,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2560,2819,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2819,en,Spastic paraplegia-facial-cutaneous lesions syndrome,en,1,13024,98006,Rare neurologic disease,en,2560,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2561,2820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820,en,Spastic paraplegia-nephritis-deafness syndrome,en,1,13024,98006,Rare neurologic disease,en,2561,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2562,2821,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2821,en,Spastic paraplegia-neuropathy-poikiloderma syndrome,en,1,13024,98006,Rare neurologic disease,en,2562,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2563,2822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2822,en,Autosomal recessive spastic paraplegia type 11,en,1,13024,98006,Rare neurologic disease,en,2563,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2572,2835,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2835,en,Pectus excavatum-macrocephaly-dysplastic nails syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2572,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20173,268261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261,en,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20173,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2573,2836,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836,en,PEHO syndrome,en,1,13024,98006,Rare neurologic disease,en,2573,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20172,268249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268249,en,Mycophenolate mofetil embryopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20172,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20175,268316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268316,en,Complication in hemodialysis,en,1,12456,93626,Rare renal disease,en,20175,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20169,268162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162,en,Intermediate maple syrup urine disease,en,1,10507,68367,Rare inborn errors of metabolism,en,20169,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2569,2832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2832,en,Short tarsus-absence of lower eyelashes syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2569,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20168,268145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145,en,Classic maple syrup urine disease,en,1,10507,68367,Rare inborn errors of metabolism,en,20168,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20171,268184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184,en,Thiamine-responsive maple syrup urine disease,en,1,10507,68367,Rare inborn errors of metabolism,en,20171,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2570,2833,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2833,en,Stiff skin syndrome,en,1,11896,89826,Rare skin disease,en,2570,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2571,2834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834,en,Wrinkly skin syndrome,en,1,11896,89826,Rare skin disease,en,2571,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20170,268173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173,en,Intermittent maple syrup urine disease,en,1,10507,68367,Rare inborn errors of metabolism,en,20170,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2675,2969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969,en,Proteus-like syndrome,en,1,19592,250908,Rare neoplastic disease,en,2675,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2674,2964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2964,en,Autosomal dominant prognathism,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2674,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2673,2962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962,en,De Barsy syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,2673,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2679,2973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973,en,"46,XX difference of sex development-anorectal anomalies syndrome",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2679,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2678,2972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2972,en,Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2678,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2676,750,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750,en,Pseudoachondroplasia,en,1,12333,93419,Rare bone disease,en,2676,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2682,2976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2976,en,"Pseudoleprechaunism syndrome, Patterson type",en,1,12996,97978,Rare endocrine disease,en,2682,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2681,2975,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2975,en,"46,XX difference of sex development-skeletal anomalies syndrome",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2681,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2686,2980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2980,en,Acrootoocular syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2686,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2684,2978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2978,en,Chronic intestinal pseudoobstruction,en,1,12954,97935,Rare gastroenterologic disease,en,2684,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2659,2946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946,en,Brachydactyly-long thumb syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2659,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2656,1848,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848,en,"Renal agenesis, bilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2656,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2663,2951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2951,en,Absent thumb-short stature-immunodeficiency syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2663,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2660,2947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2947,en,Triphalangeal thumbs-brachyectrodactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2660,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20132,264978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264978,en,Drug or radiation exposure-related interstitial lung disease,en,1,12974,97955,Rare respiratory disease,en,20132,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2667,2956,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956,en,Acrodysplasia scoliosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2667,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2664,2952,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2952,en,"Adducted thumbs-arthrogryposis syndrome, Christian type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2664,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2670,740,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740,en,Hutchinson-Gilford progeria syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2670,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2671,2959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2959,en,Progeria-short stature-pigmented nevi syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2671,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2668,2957,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957,en,Guttmacher syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2668,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2669,2958,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2958,en,X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2669,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2641,2924,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2924,en,Isolated polycystic liver disease,en,1,10772,57146,Rare hepatic disease,en,2641,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2643,2926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2926,en,Digital extensor muscle aplasia-polyneuropathy,en,1,13024,98006,Rare neurologic disease,en,2643,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2645,2928,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2928,en,Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,en,1,13024,98006,Rare neurologic disease,en,2645,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2646,2930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930,en,Cronkhite-Canada syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2646,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2649,2935,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2935,en,Crossed polysyndactyly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2649,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2648,2934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2934,en,Polysyndactyly-cardiac malformation syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2648,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2655,2941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2941,en,Porencephaly-cerebellar hypoplasia-internal malformations syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2655,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2654,2940,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940,en,Porencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2654,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2624,2896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896,en,Pitt-Hopkins syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2624,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2625,2899,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899,en,Brachyolmia-amelogenesis imperfecta syndrome,en,1,12333,93419,Rare bone disease,en,2625,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2626,2900,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900,en,Leri pleonosteosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2626,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2627,2905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2905,en,POEMS syndrome,en,1,19592,250908,Rare neoplastic disease,en,2627,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20100,264450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264450,en,Trisomy 8p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20100,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2629,2907,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2907,en,Hereditary acrokeratotic poikiloderma,en,1,11896,89826,Rare skin disease,en,2629,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2630,2911,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911,en,Poland syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2630,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20103,264580,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580,en,Glycogen storage disease due to liver phosphorylase kinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,20103,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2634,2916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2916,en,Postaxial polydactyly-dental and vertebral anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2634,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2635,2917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2917,en,Polydactyly-myopia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2635,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2637,2919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919,en,Orofaciodigital syndrome type 5,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2637,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20108,264675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675,en,Hereditary pulmonary alveolar proteinosis,en,1,12974,97955,Rare respiratory disease,en,20108,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2638,2920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920,en,Oliver syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2638,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20111,264691,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264691,en,Isolated pulmonary capillaritis,en,1,12974,97955,Rare respiratory disease,en,20111,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2639,2921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2921,en,Preaxial polydactyly-colobomata-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2639,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20110,264688,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264688,en,Congenital chylothorax,en,1,12974,97955,Rare respiratory disease,en,20110,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2989,3374,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3374,en,Unilateral ocular duplication,en,1,12984,97966,Rare ophthalmic disorder,en,2989,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2991,1717,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1717,en,Distal duplication 19q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2991,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2990,3377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3377,en,Trismus-pseudocamptodactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2990,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2985,3368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3368,en,Trigonocephaly-bifid nose-acral anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2985,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20328,275777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275777,en,Heritable pulmonary arterial hypertension,en,1,12974,97955,Rare respiratory disease,en,20328,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2986,3369,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369,en,Trigonocephaly-short stature-developmental delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2986,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2981,3363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363,en,Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2981,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20326,275761,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761,en,Lysosomal acid lipase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,20326,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2983,3366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366,en,Non-syndromic metopic craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2983,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2982,3365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3365,en,Trigonocephaly-broad thumbs syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2982,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20327,275766,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275766,en,Idiopathic pulmonary arterial hypertension,en,1,12974,97955,Rare respiratory disease,en,20327,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2979,3361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3361,en,Trichodysplasia-xeroderma syndrome,en,1,11896,89826,Rare skin disease,en,2979,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3004,3408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3408,en,Upington disease,en,1,12333,93419,Rare bone disease,en,3004,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20349,276148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276148,en,Benign epithelial tumor of salivary glands,en,1,12954,97935,Rare gastroenterologic disease,en,20349,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3005,3409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3409,en,Urban-Rogers-Meyer syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3005,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20348,276145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276145,en,Malignant epithelial tumor of salivary glands,en,1,19592,250908,Rare neoplastic disease,en,20348,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3007,3412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412,en,VACTERL with hydrocephalus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3007,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20350,276152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276152,en,Multiple endocrine neoplasia type 4,en,1,19592,250908,Rare neoplastic disease,en,20350,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3001,3403,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3403,en,Uhl anomaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3001,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3002,3404,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404,en,Ulbright-Hodes syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3002,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20346,276066,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276066,en,Bile acid CoA ligase deficiency and defective amidation,en,1,10772,57146,Rare hepatic disease,en,20346,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20341,275872,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872,en,Frontotemporal dementia with motor neuron disease,en,1,13024,98006,Rare neurologic disease,en,20341,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2996,3383,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3383,en,Humerus trochlea aplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2996,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2997,3384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3384,en,Truncus arteriosus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2997,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20340,275864,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864,en,Behavioral variant of frontotemporal dementia,en,1,13024,98006,Rare neurologic disease,en,20340,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20343,275944,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275944,en,Hemolytic disease of the newborn with Kell alloimmunization,en,1,13010,97992,Rare hematologic disease,en,20343,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2998,3387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3387,en,Isolated anterior cervical hypertrichosis,en,1,11896,89826,Rare skin disease,en,2998,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2992,1723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1723,en,Mosaic trisomy 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2992,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2993,1724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1724,en,Mosaic trisomy 20,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2993,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2994,1747,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1747,en,Mosaic trisomy 7,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2994,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2954,3329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329,en,Tibial aplasia-ectrodactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2954,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2953,3328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328,en,Absent tibia-polydactyly-arachnoid cyst syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2953,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2952,3327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3327,en,Thyrocerebrorenal syndrome,en,1,12456,93626,Rare renal disease,en,2952,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2951,3326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326,en,Thymic-renal-anal-lung dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2951,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2949,3322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322,en,Hoyeraal-Hreidarsson syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2949,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2947,3317,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317,en,Thoracolaryngopelvic dysplasia,en,1,12333,93419,Rare bone disease,en,2947,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2946,3316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316,en,Thomas syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2946,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2945,3314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3314,en,"Thiemann disease, familial form",en,1,12333,93419,Rare bone disease,en,2945,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2974,3355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355,en,Trichoodontoonychial dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2974,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20319,275555,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275555,en,Preeclampsia,en,1,12845,96344,Rare gynecologic or obstetric disease,en,20319,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20318,275543,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275543,en,L1 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20318,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2972,3353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353,en,Trichodermodysplasia-dental alterations syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2972,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20316,275523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275523,en,Dianzani autoimmune lymphoproliferative disease,en,1,13022,98004,Rare immune disease,en,20316,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2970,3351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351,en,Trichodental syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2970,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20315,275517,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517,en,Autoimmune lymphoproliferative syndrome with recurrent viral infections,en,1,13022,98004,Rare immune disease,en,20315,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2971,3352,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352,en,Tricho-dento-osseous syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2971,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2969,3350,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3350,en,Tremor-nystagmus-duodenal ulcer syndrome,en,1,13024,98006,Rare neurologic disease,en,2969,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2966,3344,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3344,en,Weismann-Netter syndrome,en,1,12333,93419,Rare bone disease,en,2966,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2967,3347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3347,en,Mounier-Khn syndrome,en,1,12974,97955,Rare respiratory disease,en,2967,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2964,3341,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3341,en,Torticollis-keloids-cryptorchidism-renal dysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2964,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2965,3342,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342,en,Arterial tortuosity syndrome,en,1,13046,98028,Rare circulatory system disease,en,2965,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2962,3339,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3339,en,Toriello-Lacassie-Droste syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2962,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2961,3338,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338,en,Toriello-Carey syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2961,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3049,3469,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3469,en,XK aprosencephaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3049,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3051,3472,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472,en,Yunis-Varon syndrome,en,1,12333,93419,Rare bone disease,en,3051,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3050,3471,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3471,en,Young syndrome,en,1,12974,97955,Rare respiratory disease,en,3050,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3053,3319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319,en,Congenital amegakaryocytic thrombocytopenia,en,1,13010,97992,Rare hematologic disease,en,3053,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3052,3473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473,en,Zimmermann-Laband syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3052,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3041,3459,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459,en,Wilson-Turner syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3041,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3045,3464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464,en,Woodhouse-Sakati syndrome,en,1,12996,97978,Rare endocrine disease,en,3045,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3047,3466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466,en,WT limb-blood syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3047,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3046,3465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3465,en,Worster-Drought syndrome,en,1,13024,98006,Rare neurologic disease,en,3046,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3066,2995,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995,en,Baraitser-Winter cerebrofrontofacial syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3066,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3069,3200,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3200,en,Arthrogryposis-ectodermal dysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3069,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3071,1570,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1570,en,Symbrachydactyly of hands and feet,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3071,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3057,3243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243,en,Sweet syndrome,en,1,11896,89826,Rare skin disease,en,3057,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3060,1827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827,en,Acromelic frontonasal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3060,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20234,268980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268980,en,Isolated focal cortical dysplasia type Ib,en,1,13024,98006,Rare neurologic disease,en,20234,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20235,268987,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268987,en,Isolated focal cortical dysplasia type Ic,en,1,13024,98006,Rare neurologic disease,en,20235,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3017,3424,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3424,en,Velo-facial-skeletal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3017,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20233,268973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973,en,Isolated focal cortical dysplasia type Ia,en,1,13024,98006,Rare neurologic disease,en,20233,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20238,269008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008,en,Isolated focal cortical dysplasia type IIb,en,1,13024,98006,Rare neurologic disease,en,20238,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3023,3433,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433,en,Microcephaly-brachydactyly-kyphoscoliosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3023,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20236,268994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268994,en,Isolated focal cortical dysplasia type II,en,1,13024,98006,Rare neurologic disease,en,20236,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3020,3429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3429,en,Verloove Vanhorick-Brubakk syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3020,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20237,269001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001,en,Isolated focal cortical dysplasia type IIa,en,1,13024,98006,Rare neurologic disease,en,20237,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3011,2460,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460,en,Van den Ende-Gupta syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3011,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20226,268940,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940,en,Bilateral polymicrogyria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20226,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20227,268943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943,en,Unilateral polymicrogyria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20227,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3010,3416,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416,en,Hyperostosis corticalis generalisata,en,1,12333,93419,Rare bone disease,en,3010,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20225,268936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268936,en,Isolated arhinencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20225,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20231,268961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268961,en,Isolated focal cortical dysplasia type I,en,1,13024,98006,Rare neurologic disease,en,20231,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20228,268947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947,en,Unilateral focal polymicrogyria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20228,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3012,3417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417,en,Van den Bosch syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3012,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20251,269229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269229,en,Pontine tegmental cap dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20251,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3035,3453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453,en,Autoimmune polyendocrinopathy type 1,en,1,12996,97978,Rare endocrine disease,en,3035,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3032,3448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448,en,Weaver-Williams syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3032,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20249,269221,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269221,en,Isolated bilateral hemispheric cerebellar hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20249,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3033,3449,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449,en,Weill-Marchesani syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3033,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20248,269218,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269218,en,Isolated unilateral hemispheric cerebellar hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20248,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3038,3456,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3456,en,Wildervanck syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3038,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20253,269510,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269510,en,Congenital non-communicating hydrocephalus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20253,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3036,3454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454,en,Intellectual disability-developmental delay-contractures syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3036,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3037,3455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455,en,Wiedemann-Rautenstrauch syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3037,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20252,269505,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269505,en,Congenital communicating hydrocephalus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20252,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20243,269203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269203,en,Isolated cerebellar vermis agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20243,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20241,269197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269197,en,Glioependymal/ependymal cyst,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20241,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3024,3434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434,en,MMEP syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3024,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20247,269215,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269215,en,Isolated Dandy-Walker malformation without hydrocephalus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20247,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20246,269212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269212,en,Isolated Dandy-Walker malformation with hydrocephalus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20246,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20245,269209,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269209,en,Isolated partial cerebellar vermis agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20245,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20244,269206,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269206,en,Isolated total cerebellar vermis agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20244,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2852,1856,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856,en,Spondyloperipheral dysplasia-short ulna syndrome,en,1,12333,93419,Rare bone disease,en,2852,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20453,280315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280315,en,Autoimmune pancreatitis type 2,en,1,12954,97935,Rare gastroenterologic disease,en,20453,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2853,3181,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3181,en,Sprengel deformity,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2853,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20452,280302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280302,en,Autoimmune pancreatitis type 1,en,1,12954,97935,Rare gastroenterologic disease,en,20452,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20455,280333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333,en,Alpha-dystroglycan-related limb-girdle muscular dystrophy R16,en,1,13024,98006,Rare neurologic disease,en,20455,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20454,280325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280325,en,Distal deletion 12p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20454,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20449,280293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280293,en,Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,en,1,13024,98006,Rare neurologic disease,en,20449,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20448,280288,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280288,en,Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,en,1,13024,98006,Rare neurologic disease,en,20448,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2860,3194,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3194,en,Corneodermatoosseous syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2860,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20460,280365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365,en,Autosomal semi-dominant severe lipodystrophic laminopathy,en,1,12996,97978,Rare endocrine disease,en,20460,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20463,280379,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379,en,Erythropoietic uroporphyria associated with myeloid malignancy,en,1,11896,89826,Rare skin disease,en,20463,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2862,3197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197,en,Hereditary hyperekplexia,en,1,13024,98006,Rare neurologic disease,en,2862,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2863,3199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3199,en,Stimmler syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2863,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2856,3184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3184,en,Steatocystoma multiplex-natal teeth syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2856,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2857,3186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186,en,Holoprosencephaly-radial heart renal anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2857,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2858,3191,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191,en,Subaortic stenosis-short stature syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2858,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2859,3193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193,en,Supravalvular aortic stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2859,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20458,280356,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356,en,PLIN1-related familial partial lipodystrophy,en,1,12996,97978,Rare endocrine disease,en,20458,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2869,3214,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214,en,"Deaf blind hypopigmentation syndrome, Yemenite type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2869,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20469,280403,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280403,en,Familial omphalocele syndrome with facial dysmorphism,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20469,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20470,280406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406,en,Familial steroid-resistant nephrotic syndrome with sensorineural deafness,en,1,12456,93626,Rare renal disease,en,20470,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2865,3210,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3210,en,Summitt syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2865,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2864,3201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3201,en,Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2864,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20465,280384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280384,en,Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20465,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20467,280397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280397,en,Familial Alzheimer-like prion disease,en,1,13024,98006,Rare neurologic disease,en,20467,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20476,280576,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576,en,Nestor-Guillermo progeria syndrome,en,1,12333,93419,Rare bone disease,en,20476,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2877,3220,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220,en,Deafness-enamel hypoplasia-nail defects syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2877,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2876,3219,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219,en,Fountain syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2876,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2879,3222,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222,en,Phosphoribosylpyrophosphate synthetase superactivity,en,1,10507,68367,Rare inborn errors of metabolism,en,2879,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20478,280586,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586,en,"Chondrodysplasia with joint dislocations, gPAPP type",en,1,12333,93419,Rare bone disease,en,20478,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2873,3217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3217,en,Deafness-small bowel diverticulosis-neuropathy syndrome,en,1,13024,98006,Rare neurologic disease,en,2873,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20472,280553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553,en,Fatal infantile hypertonic myofibrillar myopathy,en,1,13024,98006,Rare neurologic disease,en,20472,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20473,280558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558,en,Warsaw breakage syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20473,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2872,3216,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3216,en,Conductive deafness-malformed external ear syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2872,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2875,3218,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3218,en,Deafness-epiphyseal dysplasia-short stature syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2875,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20423,280065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280065,en,Calciphylaxis cutis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,20423,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2823,647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647,en,Nijmegen breakage syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2823,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20422,280062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280062,en,Calciphylaxis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,20422,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20421,279947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279947,en,Postorgasmic illness syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,20421,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20420,279943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279943,en,Hereditary neutrophilia,en,1,13022,98004,Rare immune disease,en,20420,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20419,279934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934,en,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",en,1,13022,98004,Rare immune disease,en,20419,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2819,3152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152,en,Sclerosteosis,en,1,12333,93419,Rare bone disease,en,2819,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20418,279928,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279928,en,Paraneoplastic uveitis,en,1,12984,97966,Rare ophthalmic disorder,en,20418,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20417,279925,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279925,en,Infectious panuveitis,en,1,12984,97966,Rare ophthalmic disorder,en,20417,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20416,279922,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279922,en,Infectious anterior uveitis,en,1,12984,97966,Rare ophthalmic disorder,en,20416,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20431,280142,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142,en,Severe combined immunodeficiency due to LCK deficiency,en,1,13022,98004,Rare immune disease,en,20431,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2830,3164,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164,en,"Omphalocele syndrome, Shprintzen-Goldberg type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,2830,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2831,3168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3168,en,Sillence syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2831,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20430,280133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280133,en,Complement component 3 deficiency,en,1,13022,98004,Rare immune disease,en,20430,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2829,3163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163,en,SHORT syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2829,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2826,1479,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479,en,Atrial septal defect-atrioventricular conduction defects syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2826,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2824,3156,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156,en,Senior-Loken syndrome,en,1,12456,93626,Rare renal disease,en,2824,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20425,280071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071,en,ALG11-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,20425,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20424,280068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280068,en,Visceral calciphylaxis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,20424,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2825,3157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157,en,Septo-optic dysplasia spectrum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2825,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2839,3180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3180,en,Spondylocamptodactyly syndrome,en,1,12333,93419,Rare bone disease,en,2839,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20438,280210,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210,en,"Pelizaeus-Merzbacher disease, connatal form",en,1,13024,98006,Rare neurologic disease,en,20438,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20439,280219,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219,en,"Pelizaeus-Merzbacher disease, classic form",en,1,13024,98006,Rare neurologic disease,en,20439,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20436,280200,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280200,en,Microform holoprosencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20436,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2836,3177,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177,en,Spinocerebellar degeneration-corneal dystrophy syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,2836,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20437,280205,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205,en,Laryngotracheoesophageal cleft type 0,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20437,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2835,3175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3175,en,X-linked spasticity-intellectual disability-epilepsy syndrome,en,1,13024,98006,Rare neurologic disease,en,2835,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20435,280195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195,en,Septopreoptic holoprosencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20435,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2833,3172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3172,en,Eyebrow duplication-syndactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2833,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20433,280183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280183,en,Methylmalonic aciduria due to transcobalamin receptor defect,en,1,10507,68367,Rare inborn errors of metabolism,en,20433,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20447,280282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280282,en,Pelizaeus-Merzbacher-like disease due to GJC2 mutation,en,1,13024,98006,Rare neurologic disease,en,20447,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20445,280270,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280270,en,Pelizaeus-Merzbacher-like disease,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20445,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20442,280234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234,en,Null syndrome,en,1,13024,98006,Rare neurologic disease,en,20442,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2842,1855,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855,en,Spondyloenchondrodysplasia,en,1,12333,93419,Rare bone disease,en,2842,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20440,280224,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224,en,"Pelizaeus-Merzbacher disease, transitional form",en,1,13024,98006,Rare neurologic disease,en,20440,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2841,1797,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1797,en,Autosomal dominant spondylocostal dysostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2841,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20441,280229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229,en,Pelizaeus-Merzbacher disease in female carriers,en,1,13024,98006,Rare neurologic disease,en,20441,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20385,276580,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276580,en,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,20385,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2913,3258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258,en,Cenani-Lenz syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2913,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20384,276575,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276575,en,Autosomal dominant hyperinsulinism due to SUR1 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,20384,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2914,3262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3262,en,Dobrow syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2914,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20387,276598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276598,en,Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,en,1,12996,97978,Rare endocrine disease,en,20387,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20389,276608,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276608,en,Non-insulinoma pancreatogenous hypoglycemia syndrome,en,1,12996,97978,Rare endocrine disease,en,20389,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2916,3265,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3265,en,Humero-radial synostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2916,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20388,276603,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276603,en,Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,en,1,12996,97978,Rare endocrine disease,en,20388,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2917,3266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3266,en,Humero-radio-ulnar synostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2917,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20390,276621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276621,en,Sporadic pheochromocytoma/secreting paraganglioma,en,1,12996,97978,Rare endocrine disease,en,20390,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2919,3268,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268,en,Radioulnar synostosis-microcephaly-scoliosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2919,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20393,276630,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630,en,Symptomatic form of Coffin-Lowry syndrome in female carriers,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20393,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2920,3270,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270,en,Radioulnar synostosis-developmental delay-hypotonia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2920,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2923,3275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275,en,Spondylocarpotarsal synostosis,en,1,12333,93419,Rare bone disease,en,2923,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2927,425,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425,en,Apolipoprotein A-I deficiency,en,1,12996,97978,Rare endocrine disease,en,2927,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2931,3291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3291,en,Teebi-Shaltout syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2931,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2933,3293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3293,en,Telecanthus-hypertelorism-strabismus-pes cavus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2933,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2932,3292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3292,en,Tel Hashomer camptodactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2932,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20407,279882,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279882,en,Spasmus nutans,en,1,12984,97966,Rare ophthalmic disorder,en,20407,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2934,3294,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3294,en,Extensor tendons of finger anomalies,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2934,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20408,279888,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279888,en,Acute endophthalmitis,en,1,12984,97966,Rare ophthalmic disorder,en,20408,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20409,279891,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279891,en,Chronic endophthalmitis,en,1,12984,97966,Rare ophthalmic disorder,en,20409,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20410,279894,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279894,en,Toxic maculopathy due to antimalarial drugs,en,1,12984,97966,Rare ophthalmic disorder,en,20410,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2939,3301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301,en,Tetraamelia-multiple malformations syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2939,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20411,279897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897,en,Primary oculocerebral lymphoma,en,1,19592,250908,Rare neoplastic disease,en,20411,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20412,279904,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279904,en,Primary intraocular lymphoma,en,1,19592,250908,Rare neoplastic disease,en,20412,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2940,3304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3304,en,Fallot complex-intellectual disability-growth delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2940,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2943,3312,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312,en,Thalidomide embryopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2943,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20414,279914,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279914,en,Intermediate uveitis,en,1,12984,97966,Rare ophthalmic disorder,en,20414,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20415,279919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279919,en,Infectious posterior uveitis,en,1,12984,97966,Rare ophthalmic disorder,en,20415,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20355,276198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198,en,Spinocerebellar ataxia type 36,en,1,13024,98006,Rare neurologic disease,en,20355,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2882,3225,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3225,en,Hearing loss-familial salivary gland insensitivity to aldosterone syndrome,en,1,12996,97978,Rare endocrine disease,en,2882,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20354,276193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193,en,Spinocerebellar ataxia type 35,en,1,13024,98006,Rare neurologic disease,en,20354,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2883,3226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3226,en,Deafness-lymphedema-leukemia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2883,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20353,276183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183,en,Spinocerebellar ataxia type 32,en,1,13024,98006,Rare neurologic disease,en,20353,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2881,3224,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224,en,Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2881,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20352,276174,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276174,en,Idiopathic recurrent stupor,en,1,13024,98006,Rare neurologic disease,en,20352,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20359,276238,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238,en,Machado-Joseph disease type 1,en,1,13024,98006,Rare neurologic disease,en,20359,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20358,276234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276234,en,Non-syndromic male infertility due to sperm motility disorder,en,1,13065,98047,Rare infertility,en,20358,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20357,276223,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223,en,"Mucopolysaccharidosis type 6, slowly progressing",en,1,10507,68367,Rare inborn errors of metabolism,en,20357,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20356,276212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212,en,"Mucopolysaccharidosis type 6, rapidly progressing",en,1,10507,68367,Rare inborn errors of metabolism,en,20356,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2890,3230,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3230,en,Deafness-oligodontia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2890,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20361,276244,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244,en,Machado-Joseph disease type 3,en,1,13024,98006,Rare neurologic disease,en,20361,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20360,276241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241,en,Machado-Joseph disease type 2,en,1,13024,98006,Rare neurologic disease,en,20360,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2894,3235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3235,en,Progressive deafness with stapes fixation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2894,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2895,3236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3236,en,Conductive deafness-ptosis-skeletal anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2895,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2892,3232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3232,en,Deafness-ear malformation-facial palsy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2892,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2893,3233,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3233,en,Cochleosaccular degeneration-cataract syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2893,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2899,3241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3241,en,Deafness-craniofacial syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2899,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20370,276280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280,en,Hemihyperplasia-multiple lipomatosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20370,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20371,276399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276399,en,Familial multinodular goiter,en,1,12996,97978,Rare endocrine disease,en,20371,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2898,3239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3239,en,Deafness-vitiligo-achalasia syndrome,en,1,13054,98036,Rare otorhinolaryngologic disease,en,2898,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2897,3238,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3238,en,Cardiospondylocarpofacial syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2897,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2896,3237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237,en,Multiple synostoses syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2896,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2903,3246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246,en,Symphalangism with multiple anomalies of hands and feet,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2903,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20375,276413,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276413,en,10q22.3q23.3 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20375,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2900,3242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3242,en,Renpenning syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2900,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20373,276405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276405,en,Hyperbiliverdinemia,en,1,10772,57146,Rare hepatic disease,en,20373,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2907,3250,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250,en,Proximal symphalangism,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2907,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2905,3248,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3248,en,Distal symphalangism,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2905,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20376,276422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276422,en,10q22.3q23.3 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20376,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20377,276429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276429,en,Hypnic headache,en,1,13024,98006,Rare neurologic disease,en,20377,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2910,3255,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255,en,Filippi syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2910,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20383,276556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556,en,Hyperinsulinism due to UCP2 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,20383,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20380,276432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432,en,Ogden syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20380,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,2908,3253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253,en,Cleft lip/palate-ectodermal dysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,2908,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20381,276435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276435,en,Lower motor neuron syndrome with late-adult onset,en,1,13024,98006,Rare neurologic disease,en,20381,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3280,911,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=911,en,Combined immunodeficiency due to ZAP70 deficiency,en,1,13022,98004,Rare immune disease,en,3280,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3282,3325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3325,en,Heparin-induced thrombocytopenia,en,1,13010,97992,Rare hematologic disease,en,3282,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3294,746,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746,en,Mitochondrial trifunctional protein deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3294,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3295,943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=943,en,Malonic aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,3295,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3290,621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621,en,Hereditary methemoglobinemia,en,1,13010,97992,Rare hematologic disease,en,3290,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3271,2089,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2089,en,Glycogen storage disease due to hepatic glycogen synthase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3271,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3264,412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412,en,Dysbetalipoproteinemia,en,1,12996,97978,Rare endocrine disease,en,3264,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3267,743,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=743,en,Severe hereditary thrombophilia due to congenital protein S deficiency,en,1,13010,97992,Rare hematologic disease,en,3267,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3266,424,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424,en,Familial hyperthyroidism due to mutations in TSH receptor,en,1,12996,97978,Rare endocrine disease,en,3266,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3277,325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325,en,Congenital factor II deficiency,en,1,13010,97992,Rare hematologic disease,en,3277,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3276,343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343,en,Hyperimmunoglobulinemia D with periodic fever,en,1,13022,98004,Rare immune disease,en,3276,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3279,572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572,en,Immunodeficiency by defective expression of MHC class II,en,1,13022,98004,Rare immune disease,en,3279,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3278,3324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3324,en,Familial thrombomodulin anomalies,en,1,13010,97992,Rare hematologic disease,en,3278,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3275,1930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930,en,Herpes simplex virus encephalitis,en,1,10557,68416,Rare infectious disease,en,3275,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3316,158,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158,en,Systemic primary carnitine deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3316,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3313,2056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2056,en,Essential fructosuria,en,1,10507,68367,Rare inborn errors of metabolism,en,3313,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18495,206436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436,en,Infantile Krabbe disease,en,1,10507,68367,Rare inborn errors of metabolism,en,18495,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3327,820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=820,en,Sneddon syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,3327,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3321,1945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945,en,Rolandic epilepsy,en,1,13024,98006,Rare neurologic disease,en,3321,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3298,832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832,en,Succinyl-CoA:3-oxoacid CoA transferase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3298,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3297,6,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=6,en,3-methylcrotonyl-CoA carboxylase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3297,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3296,20,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20,en,3-hydroxy-3-methylglutaric aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,3296,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3306,714,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714,en,Hemolytic anemia due to diphosphoglycerate mutase deficiency,en,1,13010,97992,Rare hematologic disease,en,3306,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3304,712,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712,en,Hemolytic anemia due to glucophosphate isomerase deficiency,en,1,13010,97992,Rare hematologic disease,en,3304,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3219,2831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2831,en,"Rhizomelic dysplasia, Patterson-Lowry type",en,1,12333,93419,Rare bone disease,en,3219,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3221,1129,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129,en,Arachnodactyly-abnormal ossification-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3221,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18519,206546,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546,en,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,en,1,13024,98006,Rare neurologic disease,en,18519,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3222,1383,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383,en,Cataract-deafness-hypogonadism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3222,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18518,206538,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206538,en,Malignant non-dysgerminomatous germ cell tumor of ovary,en,1,19592,250908,Rare neoplastic disease,en,18518,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18521,206554,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554,en,Fukutin-related limb-girdle muscular dystrophy R13,en,1,13024,98006,Rare neurologic disease,en,18521,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3225,1524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1524,en,Craniomicromelic syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3225,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18520,206549,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206549,en,Anoctamin-5-related limb-girdle muscular dystrophy R12,en,1,13024,98006,Rare neurologic disease,en,18520,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3226,1123,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123,en,Caudal appendage-deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3226,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18523,206564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564,en,POMGNT1-related limb-girdle muscular dystrophy R15,en,1,13024,98006,Rare neurologic disease,en,18523,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18522,206559,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559,en,POMT2-related limb-girdle muscular dystrophy R14,en,1,13024,98006,Rare neurologic disease,en,18522,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18525,206572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206572,en,Overlap myositis,en,1,13024,98006,Rare neurologic disease,en,18525,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3229,3263,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3263,en,Syngnathia-cleft palate syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3229,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18524,206569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206569,en,Immune-mediated necrotizing myopathy,en,1,13024,98006,Rare neurologic disease,en,18524,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18527,206580,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206580,en,Autosomal recessive lower motor neuron disease with childhood onset,en,1,13024,98006,Rare neurologic disease,en,18527,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18526,206575,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206575,en,Rippling muscle disease with myasthenia gravis,en,1,13024,98006,Rare neurologic disease,en,18526,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18496,206443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443,en,Late-infantile/juvenile Krabbe disease,en,1,10507,68367,Rare inborn errors of metabolism,en,18496,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3200,3439,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3439,en,Von Voss-Cherstvoy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3200,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18497,206448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448,en,Adult Krabbe disease,en,1,10507,68367,Rare inborn errors of metabolism,en,18497,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18499,206470,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206470,en,Cystadenoma of childhood,en,1,19592,250908,Rare neoplastic disease,en,18499,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3202,1217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1217,en,Spinal atrophy-ophthalmoplegia-pyramidal syndrome,en,1,13024,98006,Rare neurologic disease,en,3202,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3207,2680,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2680,en,Hypomyelination neuropathy-arthrogryposis syndrome,en,1,13024,98006,Rare neurologic disease,en,3207,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18502,206484,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206484,en,Gonadoblastoma,en,1,19592,250908,Rare neoplastic disease,en,18502,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3206,1681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1681,en,Diprosopus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3206,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18503,206489,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206489,en,Malignant germ cell tumor of the vagina,en,1,19592,250908,Rare neoplastic disease,en,18503,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18504,206492,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206492,en,Vulvovaginal rhabdomyosarcoma,en,1,19592,250908,Rare neoplastic disease,en,18504,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3214,1655,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655,en,Mllerian derivatives-lymphangiectasia-polydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3214,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3250,633,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633,en,Laron syndrome,en,1,12996,97978,Rare endocrine disease,en,3250,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3249,478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478,en,Kallmann syndrome,en,1,12996,97978,Rare endocrine disease,en,3249,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3252,822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=822,en,Hereditary spherocytosis,en,1,13010,97992,Rare hematologic disease,en,3252,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3253,910,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910,en,Xeroderma pigmentosum,en,1,11896,89826,Rare skin disease,en,3253,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3258,229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229,en,Familial aortic dissection,en,1,13046,98028,Rare circulatory system disease,en,3258,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3256,777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=777,en,X-linked non-syndromic intellectual disability,en,1,13024,98006,Rare neurologic disease,en,3256,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3257,766,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766,en,Hemolytic anemia due to red cell pyruvate kinase deficiency,en,1,13010,97992,Rare hematologic disease,en,3257,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3260,28,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28,en,Vitamin B12-responsive methylmalonic acidemia,en,1,10507,68367,Rare inborn errors of metabolism,en,3260,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18530,206594,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206594,en,Subacute inflammatory demyelinating polyneuropathy,en,1,13024,98006,Rare neurologic disease,en,18530,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18531,206599,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206599,en,Isolated asymptomatic elevation of creatine phosphokinase,en,1,13024,98006,Rare neurologic disease,en,18531,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3233,3206,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206,en,Stve-Wiedemann syndrome,en,1,12333,93419,Rare bone disease,en,3233,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18528,206583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583,en,Adult polyglucosan body disease,en,1,10507,68367,Rare inborn errors of metabolism,en,18528,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18529,206586,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206586,en,Neurolymphomatosis,en,1,13024,98006,Rare neurologic disease,en,18529,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3238,2729,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2729,en,Okamoto syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3238,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3243,65,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65,en,Leber congenital amaurosis,en,1,12984,97966,Rare ophthalmic disorder,en,3243,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3247,321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321,en,Multiple osteochondromas,en,1,12333,93419,Rare bone disease,en,3247,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3245,144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144,en,Lynch syndrome,en,1,19592,250908,Rare neoplastic disease,en,3245,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3244,110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110,en,Bardet-Biedl syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3244,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3165,2756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756,en,Orofaciodigital syndrome type 10,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3165,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3164,3095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095,en,Atypical Rett syndrome,en,1,13024,98006,Rare neurologic disease,en,3164,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3167,2326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326,en,Kallmann syndrome-heart disease syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3167,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3161,1130,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1130,en,Arachnodactyly-intellectual disability-dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3161,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3157,3207,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3207,en,White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3157,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3152,2058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2058,en,Fryns-Smeets-Thiry syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3152,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3155,2538,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538,en,Microgastria-limb reduction defect syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3155,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3154,1192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192,en,Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,en,1,13046,98028,Rare circulatory system disease,en,3154,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3148,2062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062,en,Progressive non-infectious anterior vertebral fusion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3148,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3149,2015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015,en,Cleft palate-short stature-vertebral anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3149,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3150,2427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427,en,Macrocephaly-short stature-paraplegia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3150,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3144,2898,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898,en,X-linked intellectual disability-plagiocephaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3144,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18564,206994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206994,en,Bacterial myositis,en,1,10557,68416,Rare infectious disease,en,18564,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18566,207000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207000,en,Fungal myositis,en,1,10557,68416,Rare infectious disease,en,18566,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3143,2349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2349,en,Muscular pseudohypertrophy-hypothyroidism syndrome,en,1,12996,97978,Rare endocrine disease,en,3143,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3136,1423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1423,en,Lethal recessive chondrodysplasia,en,1,12333,93419,Rare bone disease,en,3136,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3137,2183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183,en,Hydrocephalus-obesity-hypogonadism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3137,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18563,206991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206991,en,Viral myositis,en,1,10557,68416,Rare infectious disease,en,18563,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3198,1114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114,en,Aplasia cutis congenita,en,1,11896,89826,Rare skin disease,en,3198,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18620,208999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208999,en,Paraneoplastic sensory ganglionopathy,en,1,13024,98006,Rare neurologic disease,en,18620,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18621,209004,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209004,en,Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy,en,1,13024,98006,Rare neurologic disease,en,18621,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18618,208989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208989,en,Non-paraneoplastic sensory ganglionopathy,en,1,13024,98006,Rare neurologic disease,en,18618,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3191,1101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1101,en,Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3191,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3189,2184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2184,en,Hydrocephaly-low insertion umbilicus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3189,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3188,1779,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1779,en,Dysmorphism-cleft palate-loose skin syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3188,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3187,1272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272,en,Aym-Gripp syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3187,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18608,208513,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513,en,Spinocerebellar ataxia type 29,en,1,13024,98006,Rare neurologic disease,en,18608,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18609,208524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208524,en,Herpetiform pemphigus,en,1,11896,89826,Rare skin disease,en,18609,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3182,1485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1485,en,"Arthrogryposis-hyperkeratosis syndrome, lethal form",en,1,12469,93890,Rare developmental defect during embryogenesis,en,3182,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18606,208447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447,en,Bilateral generalized polymicrogyria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18606,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3183,3051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051,en,Nicolaides-Baraitser syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3183,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18605,208444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444,en,Bilateral frontal polymicrogyria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18605,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18604,208441,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441,en,Bilateral parasagittal parieto-occipital polymicrogyria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18604,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3181,1134,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1134,en,Isolated arrhinia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3181,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3174,1768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768,en,Familial caudal dysgenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3174,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3175,2204,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2204,en,"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type",en,1,12333,93419,Rare bone disease,en,3175,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3173,2963,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963,en,"Progeroid syndrome, Petty type",en,1,11896,89826,Rare skin disease,en,3173,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3171,2619,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2619,en,"Brachydactylous dwarfism, Mseleni type",en,1,12333,93419,Rare bone disease,en,3171,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3169,1541,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541,en,"Craniosynostosis, Boston type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,3169,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3096,1415,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415,en,Cholestasis-pigmentary retinopathy-cleft palate syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3096,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3101,2151,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151,en,Hirschsprung disease-ganglioneuroblastoma syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3101,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3103,2653,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2653,en,Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3103,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18654,209335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209335,en,Autosomal dominant adult-onset proximal spinal muscular atrophy,en,1,13024,98006,Rare neurologic disease,en,18654,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18655,209341,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209341,en,DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,en,1,13024,98006,Rare neurologic disease,en,18655,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3091,3167,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3167,en,Siegler-Brewer-Carey syndrome,en,1,12974,97955,Rare respiratory disease,en,3091,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3080,1277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1277,en,Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3080,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3081,2547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2547,en,Microphthalmia-microtia-fetal akinesia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3081,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3086,1778,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1778,en,Facial dysmorphism-shawl scrotum-joint laxity syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3086,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3087,3074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3074,en,Intellectual disability-short stature-hypertelorism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3087,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3075,1759,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1759,en,Thoraco-abdominal enteric duplication,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3075,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18682,210110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110,en,Intermediate osteopetrosis,en,1,12333,93419,Rare bone disease,en,18682,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3130,3405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3405,en,Umbilical cord ulceration-intestinal atresia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3130,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18683,210115,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115,en,Sterile multifocal osteomyelitis with periostitis and pustulosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,18683,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3129,1884,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884,en,Ectopia lentis-chorioretinal dystrophy-myopia syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,3129,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18680,209981,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209981,en,IRIDA syndrome,en,1,13010,97992,Rare hematologic disease,en,18680,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18681,209989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209989,en,Non-papillary transitional cell carcinoma of the bladder,en,1,19592,250908,Rare neoplastic disease,en,18681,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3128,1459,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1459,en,Celiac disease-epilepsy-cerebral calcification syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,3128,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18686,210133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210133,en,Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome,en,1,11896,89826,Rare skin disease,en,18686,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18687,210136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210136,en,Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome,en,1,12974,97955,Rare respiratory disease,en,18687,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3134,2582,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2582,en,Myalgia-eosinophilia syndrome associated with tryptophan,en,1,13041,98023,Rare systemic or rheumatologic disease,en,3134,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18684,210122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210122,en,Congenital alveolar capillary dysplasia,en,1,12974,97955,Rare respiratory disease,en,18684,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18685,210128,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128,en,Urocanic aciduria,en,1,13024,98006,Rare neurologic disease,en,18685,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3132,2254,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254,en,Pontocerebellar hypoplasia type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3132,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18674,209959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209959,en,Phacoanaphylactic uveitis,en,1,12984,97966,Rare ophthalmic disorder,en,18674,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18675,209964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209964,en,Solitary rectal ulcer syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,18675,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18672,209951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209951,en,Autosomal spastic paraplegia type 18,en,1,13024,98006,Rare neurologic disease,en,18672,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18673,209956,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209956,en,Idiopathic uveal effusion syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,18673,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18678,209973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209973,en,Benign nocturnal alternating hemiplegia of childhood,en,1,13024,98006,Rare neurologic disease,en,18678,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18676,209967,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209967,en,Episodic ataxia type 6,en,1,13024,98006,Rare neurologic disease,en,18676,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18677,209970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209970,en,Episodic ataxia type 7,en,1,13024,98006,Rare neurologic disease,en,18677,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3114,2795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2795,en,Fowler urethral sphincter dysfunction syndrome,en,1,14860,101433,Rare urogenital disease,en,3114,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18667,209908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209908,en,Isolated childhood apraxia of speech,en,1,13024,98006,Rare neurologic disease,en,18667,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18666,209905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905,en,Brain-lung-thyroid syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18666,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18665,209902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902,en,Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,en,1,12996,97978,Rare endocrine disease,en,18665,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3118,2666,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2666,en,Adult familial nephronophthisis-spastic quadriparesia syndrome,en,1,12456,93626,Rare renal disease,en,3118,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18671,209943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209943,en,IRVAN syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,18671,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18670,209932,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209932,en,Cone dystrophy with supernormal rod response,en,1,12984,97966,Rare ophthalmic disorder,en,18670,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18669,209919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209919,en,Idiopathic copper-associated cirrhosis,en,1,10772,57146,Rare hepatic disease,en,18669,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18668,209916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209916,en,Extraskeletal myxoid chondrosarcoma,en,1,19592,250908,Rare neoplastic disease,en,18668,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3106,2519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519,en,Microcephaly-seizures-intellectual disability-heart disease syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3106,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18656,209370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209370,en,Severe neonatal-onset encephalopathy with microcephaly,en,1,13024,98006,Rare neurologic disease,en,18656,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18662,209867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209867,en,Autosomal dominant rhegmatogenous retinal detachment,en,1,12984,97966,Rare ophthalmic disorder,en,18662,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18695,210571,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210571,en,Dystonia 16,en,1,13024,98006,Rare neurologic disease,en,18695,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3525,3286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3286,en,Catecholaminergic polymorphic ventricular tachycardia,en,1,12948,97929,Rare cardiac disease,en,3525,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18692,210272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210272,en,Mal de dbarquement,en,1,13054,98036,Rare otorhinolaryngologic disease,en,18692,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18693,210548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548,en,Macrocephaly-intellectual disability-autism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18693,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18690,210159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210159,en,Adult hepatocellular carcinoma,en,1,19592,250908,Rare neoplastic disease,en,18690,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3523,3283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3283,en,His bundle tachycardia,en,1,12948,97929,Rare cardiac disease,en,3523,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18691,210163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163,en,"Congenital lethal myopathy, Compton-North type",en,1,13024,98006,Rare neurologic disease,en,18691,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3521,3240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240,en,Central nervous system calcification-deafness-tubular acidosis-anemia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3521,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18688,210141,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210141,en,Inherited congenital spastic tetraplegia,en,1,13024,98006,Rare neurologic disease,en,18688,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18689,210144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210144,en,"Lethal polymalformative syndrome, Boissel type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,18689,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3535,1546,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1546,en,Cryptococcosis,en,1,10557,68416,Rare infectious disease,en,3535,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3534,67,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67,en,Amoebiasis due to Entamoeba histolytica,en,1,10557,68416,Rare infectious disease,en,3534,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18698,210584,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210584,en,Spindle cell hemangioma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18698,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3530,2023,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2023,en,Undifferentiated pleomorphic sarcoma,en,1,19592,250908,Rare neoplastic disease,en,3530,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3529,416,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416,en,Primary hyperoxaluria,en,1,12456,93626,Rare renal disease,en,3529,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18696,210576,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210576,en,Congenital temporomandibular joint ankylosis,en,1,10468,68329,Rare maxillo-facial surgical disease,en,18696,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3542,3392,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3392,en,Tularemia,en,1,10557,68416,Rare infectious disease,en,3542,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3543,1063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063,en,Tufted angioma,en,1,13046,98028,Rare circulatory system disease,en,3543,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3540,2737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2737,en,Onchocerciasis,en,1,10557,68416,Rare infectious disease,en,3540,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18709,211067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211067,en,Episodic ataxia type 5,en,1,13024,98006,Rare neurologic disease,en,18709,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3541,3343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3343,en,Toxocariasis,en,1,10557,68416,Rare infectious disease,en,3541,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3539,2583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2583,en,Mycetoma,en,1,10557,68416,Rare infectious disease,en,3539,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3536,1685,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1685,en,Distomatosis,en,1,10557,68416,Rare infectious disease,en,3536,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18704,211017,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017,en,Spinocerebellar ataxia type 30,en,1,13024,98006,Rare neurologic disease,en,18704,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3537,1902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1902,en,Ehrlichiosis,en,1,10557,68416,Rare infectious disease,en,3537,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3551,656,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656,en,Genetic steroid-resistant nephrotic syndrome,en,1,12456,93626,Rare renal disease,en,3551,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3549,655,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=655,en,Nephronophthisis,en,1,12456,93626,Rare renal disease,en,3549,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3544,2122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2122,en,Kaposiform hemangioendothelioma,en,1,13046,98028,Rare circulatory system disease,en,3544,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3545,2591,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591,en,Infantile myofibromatosis,en,1,11896,89826,Rare skin disease,en,3545,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3557,35,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35,en,Propionic acidemia,en,1,10507,68367,Rare inborn errors of metabolism,en,3557,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3556,407,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407,en,Glycine encephalopathy,en,1,13024,98006,Rare neurologic disease,en,3556,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3559,2968,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2968,en,Leukocyte adhesion deficiency,en,1,13022,98004,Rare immune disease,en,3559,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3558,663,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663,en,Mitochondrial DNA-related progressive external ophthalmoplegia,en,1,10507,68367,Rare inborn errors of metabolism,en,3558,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3552,220,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220,en,Denys-Drash syndrome,en,1,12456,93626,Rare renal disease,en,3552,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3555,5,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5,en,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3555,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3564,25,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25,en,Glutaryl-CoA dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3564,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3567,177,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177,en,Rhizomelic chondrodysplasia punctata,en,1,12333,93419,Rare bone disease,en,3567,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3566,1246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1246,en,Brachydactyly-nystagmus-cerebellar ataxia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3566,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3560,618,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618,en,Familial melanoma,en,1,19592,250908,Rare neoplastic disease,en,3560,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3572,2364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2364,en,Glycogen storage disease due to lactate dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3572,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3574,818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818,en,Smith-Lemli-Opitz syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3574,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18743,213512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213512,en,Malignant mixed Mllerian tumor of the ovary,en,1,19592,250908,Rare neoplastic disease,en,18743,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18742,213504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213504,en,Adenocarcinoma of ovary,en,1,19592,250908,Rare neoplastic disease,en,18742,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3568,175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175,en,Cartilage-hair hypoplasia,en,1,12333,93419,Rare bone disease,en,3568,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3570,42,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42,en,Medium chain acyl-CoA dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3570,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18748,213557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213557,en,Salivary gland type cancer of the breast,en,1,19592,250908,Rare neoplastic disease,en,18748,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3577,2066,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066,en,Gamma-aminobutyric acid transaminase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3577,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3578,300,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300,en,Bifunctional enzyme deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3578,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18747,213531,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213531,en,Metaplastic carcinoma of the breast,en,1,19592,250908,Rare neoplastic disease,en,18747,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18746,213528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213528,en,Rare adenocarcinoma of the breast,en,1,19592,250908,Rare neoplastic disease,en,18746,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18754,213605,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213605,en,Carcinofibroma of the corpus uteri,en,1,19592,250908,Rare neoplastic disease,en,18754,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18755,213610,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213610,en,Carcinosarcoma of the corpus uteri,en,1,19592,250908,Rare neoplastic disease,en,18755,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3457,3161,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3161,en,Congenital pulmonary sequestration,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3457,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18753,213600,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213600,en,Adenosarcoma of the corpus uteri,en,1,19592,250908,Rare neoplastic disease,en,18753,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3463,860,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=860,en,Congenitally uncorrected transposition of the great arteries,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3463,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18758,213625,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213625,en,Leiomyosarcoma of the corpus uteri,en,1,19592,250908,Rare neoplastic disease,en,18758,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3462,185,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185,en,Scimitar syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3462,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18759,213630,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213630,en,Primitive neuroectodermal tumor of the corpus uteri,en,1,19592,250908,Rare neoplastic disease,en,18759,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3461,3190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190,en,Subpulmonary stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3461,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18756,213615,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213615,en,Rhabdomyosarcoma of the corpus uteri,en,1,19592,250908,Rare neoplastic disease,en,18756,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3460,3189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189,en,Congenital pulmonary valvar stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3460,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18762,213721,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213721,en,Undifferentiated carcinoma of the corpus uteri,en,1,19592,250908,Rare neoplastic disease,en,18762,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3466,1464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1464,en,Univentricular heart,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3466,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18763,213726,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213726,en,Serous carcinoma of the corpus uteri,en,1,19592,250908,Rare neoplastic disease,en,18763,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3465,3400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3400,en,Aorto-ventricular tunnel,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3465,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18760,213711,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213711,en,Endometrial stromal sarcoma,en,1,19592,250908,Rare neoplastic disease,en,18760,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18761,213716,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213716,en,Squamous cell carcinoma of the corpus uteri,en,1,19592,250908,Rare neoplastic disease,en,18761,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18767,213746,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213746,en,Transitional cell carcinoma of the corpus uteri,en,1,19592,250908,Rare neoplastic disease,en,18767,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3469,1572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1572,en,Common variable immunodeficiency,en,1,13022,98004,Rare immune disease,en,3469,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18764,213731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213731,en,High-grade neuroendocrine carcinoma of the corpus uteri,en,1,19592,250908,Rare neoplastic disease,en,18764,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3468,3261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261,en,Autoimmune lymphoproliferative syndrome,en,1,13022,98004,Rare immune disease,en,3468,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18765,213736,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213736,en,Low-grade neuroendocrine tumor of the corpus uteri,en,1,19592,250908,Rare neoplastic disease,en,18765,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3474,2849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849,en,Perlman syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3474,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18771,213772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213772,en,Adenocarcinoma of the cervix uteri,en,1,19592,250908,Rare neoplastic disease,en,18771,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18770,213767,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213767,en,Squamous cell carcinoma of the cervix uteri,en,1,19592,250908,Rare neoplastic disease,en,18770,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18768,213751,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213751,en,Malignant germ cell tumor of the corpus uteri,en,1,19592,250908,Rare neoplastic disease,en,18768,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18775,213792,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213792,en,Adenosarcoma of the cervix uteri,en,1,19592,250908,Rare neoplastic disease,en,18775,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18774,213787,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213787,en,Carcinosarcoma of the cervix uteri,en,1,19592,250908,Rare neoplastic disease,en,18774,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18772,213777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213777,en,High-grade neuroendocrine carcinoma of the cervix uteri,en,1,19592,250908,Rare neoplastic disease,en,18772,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18779,213812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213812,en,Primitive neuroectodermal tumor of the cervix uteri,en,1,19592,250908,Rare neoplastic disease,en,18779,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3482,747,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=747,en,Autoimmune pulmonary alveolar proteinosis,en,1,12974,97955,Rare respiratory disease,en,3482,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18778,213807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213807,en,Leiomyosarcoma of the cervix uteri,en,1,19592,250908,Rare neoplastic disease,en,18778,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18777,213802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213802,en,Rhabdomyosarcoma of the cervix uteri,en,1,19592,250908,Rare neoplastic disease,en,18777,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3480,2953,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953,en,Musculocontractural Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,3480,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18783,213833,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213833,en,Glassy cell carcinoma of the cervix uteri,en,1,19592,250908,Rare neoplastic disease,en,18783,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18782,213828,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213828,en,Adenoid basal carcinoma of the cervix uteri,en,1,19592,250908,Rare neoplastic disease,en,18782,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18781,213823,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213823,en,Adenoid cystic carcinoma of the cervix uteri,en,1,19592,250908,Rare neoplastic disease,en,18781,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3484,3082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3082,en,Intellectual disability-polydactyly-uncombable hair syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3484,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3485,782,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782,en,Axenfeld-Rieger syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3485,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3489,3269,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269,en,Congenital radioulnar synostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3489,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18784,213837,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213837,en,Malignant germ cell tumor of the cervix uteri,en,1,19592,250908,Rare neoplastic disease,en,18784,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3488,3259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3259,en,Syndactyly-polydactyly-ear lobe syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3488,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3491,3309,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3309,en,Tetrasomy 5p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3491,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3493,3379,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3379,en,Distal duplication 17q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3493,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18788,216694,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216694,en,Congenitally corrected transposition of the great arteries,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18788,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18789,216718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216718,en,Isolated congenitally uncorrected transposition of the great arteries,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18789,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3495,3411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411,en,Double uterus-hemivagina-renal agenesis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3495,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18790,216729,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216729,en,Congenitally uncorrected transposition of the great arteries with cardiac malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18790,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3494,882,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882,en,Tyrosinemia type 1,en,1,10507,68367,Rare inborn errors of metabolism,en,3494,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18791,216796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796,en,Osteogenesis imperfecta type 1,en,1,12333,93419,Rare bone disease,en,18791,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3497,903,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=903,en,Von Willebrand disease,en,1,13010,97992,Rare hematologic disease,en,3497,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18792,216804,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804,en,Osteogenesis imperfecta type 2,en,1,12333,93419,Rare bone disease,en,18792,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18793,216812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812,en,Osteogenesis imperfecta type 3,en,1,12333,93419,Rare bone disease,en,18793,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18794,216820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820,en,Osteogenesis imperfecta type 4,en,1,12333,93419,Rare bone disease,en,18794,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18795,216828,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216828,en,Osteogenesis imperfecta type 5,en,1,12333,93419,Rare bone disease,en,18795,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3498,3474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474,en,CHIME syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3498,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18796,216866,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866,en,Classic pantothenate kinase-associated neurodegeneration,en,1,13024,98006,Rare neurologic disease,en,18796,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18797,216873,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873,en,Atypical pantothenate kinase-associated neurodegeneration,en,1,13024,98006,Rare neurologic disease,en,18797,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18801,216972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972,en,"Niemann-Pick disease type C, severe perinatal form",en,1,10507,68367,Rare inborn errors of metabolism,en,18801,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3505,1441,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1441,en,Ring chromosome 17 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3505,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18803,216978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978,en,"Niemann-Pick disease type C, late infantile neurologic onset",en,1,10507,68367,Rare inborn errors of metabolism,en,18803,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3506,361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=361,en,Familial glucocorticoid deficiency,en,1,12996,97978,Rare endocrine disease,en,3506,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18802,216975,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975,en,"Niemann-Pick disease type C, severe early infantile neurologic onset",en,1,10507,68367,Rare inborn errors of metabolism,en,18802,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18805,216986,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986,en,"Niemann-Pick disease type C, adult neurologic onset",en,1,10507,68367,Rare inborn errors of metabolism,en,18805,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3508,1787,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1787,en,"Acrofacial dysostosis, Palagonia type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,3508,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18804,216981,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981,en,"Niemann-Pick disease type C, juvenile neurologic onset",en,1,10507,68367,Rare inborn errors of metabolism,en,18804,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18807,217008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217008,en,Bockenheimer syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18807,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18809,217017,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217017,en,Zechi-Ceide syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18809,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18808,217012,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012,en,Spinocerebellar ataxia type 31,en,1,13024,98006,Rare neurologic disease,en,18808,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3513,2088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088,en,Fanconi-Bickel syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,3513,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18811,217026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026,en,"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,18811,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18829,217266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266,en,BNAR syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18829,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3404,179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179,en,Birdshot chorioretinopathy,en,1,12984,97966,Rare ophthalmic disorder,en,3404,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18828,217260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217260,en,Progressive multifocal leukoencephalopathy,en,1,10557,68416,Rare infectious disease,en,18828,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3402,292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=292,en,Congenital enterovirus infection,en,1,10557,68416,Rare infectious disease,en,3402,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18827,217253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217253,en,NMDA receptor encephalitis,en,1,13024,98006,Rare neurologic disease,en,18827,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3403,767,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=767,en,Polyarteritis nodosa,en,1,13041,98023,Rare systemic or rheumatologic disease,en,3403,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3400,2584,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584,en,Classic mycosis fungoides,en,1,19592,250908,Rare neoplastic disease,en,3400,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18825,217093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093,en,"Mucopolysaccharidosis type 2, attenuated form",en,1,10507,68367,Rare inborn errors of metabolism,en,18825,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3401,3162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162,en,Szary syndrome,en,1,19592,250908,Rare neoplastic disease,en,3401,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18824,217085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085,en,"Mucopolysaccharidosis type 2, severe form",en,1,10507,68367,Rare inborn errors of metabolism,en,18824,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18823,217080,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217080,en,Pulmonary fungal infections in patients deemed at risk,en,1,12974,97955,Rare respiratory disease,en,18823,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3399,2330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2330,en,Kasabach-Merritt syndrome,en,1,13010,97992,Rare hematologic disease,en,3399,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18820,217067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217067,en,Pouchitis,en,1,12954,97935,Rare gastroenterologic disease,en,18820,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3394,2700,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2700,en,Noma,en,1,10557,68416,Rare infectious disease,en,3394,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18819,217064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217064,en,5-fluorouracil poisoning,en,1,15031,108999,Rare disorder due to toxic effects,en,18819,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3395,1451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451,en,CINCA syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,3395,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18818,217059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059,en,Isolated congenital digital clubbing,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18818,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18817,217055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217055,en,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,en,1,13024,98006,Rare neurologic disease,en,18817,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3392,556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556,en,Malakoplakia,en,1,13041,98023,Rare systemic or rheumatologic disease,en,3392,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18846,217335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335,en,RIN2 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18846,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3423,2745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745,en,Opitz GBBB syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3423,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18847,217340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217340,en,17q21.31 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18847,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3422,3260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3260,en,Idiopathic hypereosinophilic syndrome,en,1,13010,97992,Rare hematologic disease,en,3422,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18845,217330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330,en,REN-related autosomal dominant tubulointerstitial kidney disease,en,1,12456,93626,Rare renal disease,en,18845,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3418,2086,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2086,en,Optic pathway glioma,en,1,19592,250908,Rare neoplastic disease,en,3418,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3417,2566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2566,en,Chronic Epstein-Barr virus infection syndrome,en,1,10557,68416,Rare infectious disease,en,3417,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3416,3385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3385,en,African trypanosomiasis,en,1,10557,68416,Rare infectious disease,en,3416,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3415,1560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1560,en,Cysticercosis,en,1,10557,68416,Rare infectious disease,en,3415,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3414,566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566,en,Congenital microcoria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3414,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3411,340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=340,en,Hemorrhagic fever-renal syndrome,en,1,10557,68416,Rare infectious disease,en,3411,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3410,2552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2552,en,Microsporidiosis,en,1,10557,68416,Rare infectious disease,en,3410,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3409,1171,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171,en,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,en,1,13024,98006,Rare neurologic disease,en,3409,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18861,217560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217560,en,Neuroendocrine cell hyperplasia of infancy,en,1,12974,97955,Rare respiratory disease,en,18861,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18860,217557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217557,en,Pulmonary interstitial glycogenosis,en,1,12974,97955,Rare respiratory disease,en,18860,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3437,1686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1686,en,Cardiac diverticulum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3437,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18863,217566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217566,en,Chronic respiratory distress with surfactant metabolism deficiency,en,1,12974,97955,Rare respiratory disease,en,18863,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18862,217563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563,en,Neonatal acute respiratory distress due to SP-B deficiency,en,1,12974,97955,Rare respiratory disease,en,18862,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18856,217407,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217407,en,Hereditary hypotrichosis with recurrent skin vesicles,en,1,11896,89826,Rare skin disease,en,18856,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3434,1456,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456,en,Atypical coarctation of aorta,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3434,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18859,217467,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467,en,Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,en,1,13010,97992,Rare hematologic disease,en,18859,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3435,1457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457,en,Aorta coarctation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3435,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18853,217390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217390,en,Combined immunodeficiency due to DOCK8 deficiency,en,1,13022,98004,Rare immune disease,en,18853,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18852,217385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385,en,17p13.3 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18852,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3430,1207,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1207,en,Pulmonary atresia with ventricular septal defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3430,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18855,217399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217399,en,Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation,en,1,13024,98006,Rare neurologic disease,en,18855,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18854,217396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396,en,Progressive polyneuropathy with bilateral striatal necrosis,en,1,13024,98006,Rare neurologic disease,en,18854,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18849,217371,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371,en,Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,en,1,10772,57146,Rare hepatic disease,en,18849,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18848,217346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217346,en,19q13.11 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18848,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3425,980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980,en,Absence of the pulmonary artery,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3425,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18851,217382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382,en,Neurodegenerative syndrome due to cerebral folate transport deficiency,en,1,13024,98006,Rare neurologic disease,en,18851,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3426,1054,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1054,en,Aneurysm of sinus of Valsalva,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3426,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18850,217377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377,en,Microduplication Xp11.22p11.23 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18850,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3455,3093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093,en,Congenital aortic valve stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3455,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18879,217622,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622,en,Sensorineural deafness with dilated cardiomyopathy,en,1,12948,97929,Rare cardiac disease,en,18879,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3454,3092,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092,en,Fixed subaortic stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3454,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3448,2299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299,en,Aortic arch interruption,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3448,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3451,3427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3427,en,Double outlet left ventricle,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3451,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3450,3426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3426,en,Double outlet right ventricle,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3450,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3445,439,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439,en,Isolated right ventricular hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3445,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3444,422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422,en,Idiopathic/heritable pulmonary arterial hypertension,en,1,12974,97955,Rare respiratory disease,en,3444,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3441,2038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038,en,Pulmonary arteriovenous malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3441,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3440,2037,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2037,en,Congenital aortopulmonary window,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3440,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3443,2041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2041,en,Coronary arterial fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3443,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3442,2039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2039,en,Congenital systemic arteriovenous fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3442,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3336,331,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331,en,Congenital factor XIII deficiency,en,1,13010,97992,Rare hematologic disease,en,3336,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3343,159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159,en,Carnitine-acylcarnitine translocase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3343,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3341,707,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707,en,Plague,en,1,10557,68416,Rare infectious disease,en,3341,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3331,335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=335,en,Congenital fibrinogen deficiency,en,1,13010,97992,Rare hematologic disease,en,3331,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3335,79,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79,en,Congenital alpha2-antiplasmin deficiency,en,1,13010,97992,Rare hematologic disease,en,3335,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18885,217656,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217656,en,Familial isolated arrhythmogenic right ventricular dysplasia,en,1,12948,97929,Rare cardiac disease,en,18885,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3332,1070,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1070,en,Anisakiasis,en,1,10557,68416,Rare infectious disease,en,3332,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3333,1467,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1467,en,Cogan syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,3333,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3355,2157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2157,en,Histidinemia,en,1,10507,68367,Rare inborn errors of metabolism,en,3355,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18906,220402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402,en,Limited cutaneous systemic sclerosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,18906,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3354,3124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124,en,Saccharopinuria,en,1,10507,68367,Rare inborn errors of metabolism,en,3354,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18907,220407,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407,en,Limited systemic sclerosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,18907,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18904,220386,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386,en,Semilobar holoprosencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18904,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3353,2203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203,en,Hyperlysinemia,en,1,10507,68367,Rare inborn errors of metabolism,en,3353,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18905,220393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393,en,Diffuse cutaneous systemic sclerosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,18905,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3359,332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332,en,Congenital intrinsic factor deficiency,en,1,13010,97992,Rare hematologic disease,en,3359,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18910,220448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220448,en,Macrothrombocytopenia with mitral valve insufficiency,en,1,13010,97992,Rare hematologic disease,en,18910,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3358,2967,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2967,en,Transcobalamin I deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3358,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18908,220436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220436,en,Quebec platelet disorder,en,1,13010,97992,Rare hematologic disease,en,18908,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3356,2195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2195,en,Dicarboxylic aminoaciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,3356,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18909,220443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220443,en,Bleeding diathesis due to thromboxane synthesis deficiency,en,1,13010,97992,Rare hematologic disease,en,18909,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3351,2170,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170,en,Methylcobalamin deficiency type cblG,en,1,10507,68367,Rare inborn errors of metabolism,en,3351,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18903,220295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295,en,Xeroderma pigmentosum-Cockayne syndrome complex,en,1,11896,89826,Rare skin disease,en,18903,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3349,414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414,en,Gyrate atrophy of choroid and retina,en,1,12984,97966,Rare ophthalmic disorder,en,3349,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3369,622,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622,en,Homocystinuria without methylmalonic aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,3369,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3370,927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927,en,Hyperammonemia due to N-acetylglutamate synthase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3370,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3372,3402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3402,en,Transient tyrosinemia of the newborn,en,1,10507,68367,Rare inborn errors of metabolism,en,3372,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3374,2880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2880,en,Phosphoenolpyruvate carboxykinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3374,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3360,941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=941,en,D-glyceric aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,3360,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18913,220465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465,en,Laron syndrome with immunodeficiency,en,1,12996,97978,Rare endocrine disease,en,18913,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18912,220460,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460,en,Attenuated familial adenomatous polyposis,en,1,12954,97935,Rare gastroenterologic disease,en,18912,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3363,2843,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843,en,Pentosuria,en,1,10507,68367,Rare inborn errors of metabolism,en,3363,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18917,220497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497,en,Joubert syndrome with renal defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18917,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3365,212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=212,en,Cystathioninuria,en,1,10507,68367,Rare inborn errors of metabolism,en,3365,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18916,220493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493,en,Joubert syndrome with ocular defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18916,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3366,470,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470,en,Lysinuric protein intolerance,en,1,10507,68367,Rare inborn errors of metabolism,en,3366,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18936,221074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221074,en,Marchiafava-Bignami disease,en,1,13024,98006,Rare neurologic disease,en,18936,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18937,221078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221078,en,Combined hyperactive dysfunction syndrome of the cranial nerves,en,1,13024,98006,Rare neurologic disease,en,18937,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3384,145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=145,en,Hereditary breast and/or ovarian cancer syndrome,en,1,19592,250908,Rare neoplastic disease,en,3384,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3387,2965,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965,en,Prolactinoma,en,1,12996,97978,Rare endocrine disease,en,3387,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18938,221083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221083,en,Hemifacial spasm,en,1,13024,98006,Rare neurologic disease,en,18938,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18939,221091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221091,en,Trigeminal neuralgia,en,1,13024,98006,Rare neurologic disease,en,18939,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3386,538,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538,en,Lymphangioleiomyomatosis,en,1,12974,97955,Rare respiratory disease,en,3386,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18940,221098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221098,en,Glossopharyngeal neuralgia,en,1,13024,98006,Rare neurologic disease,en,18940,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3388,2942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2942,en,Postpoliomyelitis syndrome,en,1,13024,98006,Rare neurologic disease,en,3388,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3391,1578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578,en,Pterin-4 alpha-carbinolamine dehydratase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3391,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3377,3208,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208,en,Isolated succinate-CoQ reductase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3377,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18929,221008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008,en,Rothmund-Thomson syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18929,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3376,24,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24,en,Fumaric aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,3376,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18930,221016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016,en,Rothmund-Thomson syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18930,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3379,1561,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1561,en,Fatal infantile cytochrome C oxidase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3379,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18931,221039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221039,en,"Hereditary sclerosing poikiloderma, Weary type",en,1,11896,89826,Rare skin disease,en,18931,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3378,1460,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1460,en,Isolated complex III deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3378,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3381,851,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851,en,Paris-Trousseau thrombocytopenia,en,1,13010,97992,Rare hematologic disease,en,3381,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18932,221043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043,en,Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,en,1,11896,89826,Rare skin disease,en,18932,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18933,221046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046,en,Poikiloderma with neutropenia,en,1,11896,89826,Rare skin disease,en,18933,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3383,745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745,en,Severe hereditary thrombophilia due to congenital protein C deficiency,en,1,13010,97992,Rare hematologic disease,en,3383,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18934,221054,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221054,en,Acrocephalopolydactyly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18934,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18935,221061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061,en,Familial cerebral cavernous malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18935,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3382,849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=849,en,Glanzmann thrombasthenia,en,1,13010,97992,Rare hematologic disease,en,3382,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18978,225154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154,en,Familial infantile bilateral striatal necrosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18978,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18976,225123,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123,en,TFR2-related hemochromatosis,en,1,10507,68367,Rare inborn errors of metabolism,en,18976,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18977,225147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225147,en,Sporadic infantile bilateral striatal necrosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18977,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18944,221117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221117,en,Gerstmann syndrome,en,1,13024,98006,Rare neurologic disease,en,18944,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18945,221120,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221120,en,Pseudoaminopterin syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18945,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18946,221126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221126,en,Fowler vasculopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18946,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18947,221139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139,en,Combined immunodeficiency with facio-oculo-skeletal anomalies,en,1,12469,93890,Rare developmental defect during embryogenesis,en,18947,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18948,221142,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221142,en,Confetti-like macular atrophy,en,1,11896,89826,Rare skin disease,en,18948,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,18949,221145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145,en,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",en,1,12469,93890,Rare developmental defect during embryogenesis,en,18949,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19062,228003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228003,en,Severe combined immunodeficiency due to CORO1A deficiency,en,1,13022,98004,Rare immune disease,en,19062,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19061,228000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228000,en,Idiopathic CD4 lymphocytopenia,en,1,13022,98004,Rare immune disease,en,19061,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19060,227990,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227990,en,Autoimmune polyendocrinopathy type 4,en,1,12996,97978,Rare endocrine disease,en,19060,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3762,842,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=842,en,Testicular seminomatous germ cell tumor,en,1,19592,250908,Rare neoplastic disease,en,3762,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19059,227982,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227982,en,Autoimmune polyendocrinopathy type 3,en,1,12996,97978,Rare endocrine disease,en,19059,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19058,227976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976,en,"Autosomal recessive optic atrophy, OPA7 type",en,1,12984,97966,Rare ophthalmic disorder,en,19058,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3760,876,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=876,en,Yolk sac tumor,en,1,19592,250908,Rare neoplastic disease,en,3760,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19057,227972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227972,en,Toxic oil syndrome,en,1,15031,108999,Rare disorder due to toxic effects,en,19057,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3761,883,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=883,en,Extragonadal teratoma,en,1,19592,250908,Rare neoplastic disease,en,3761,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19056,227796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227796,en,Fundus albipunctatus,en,1,12984,97966,Rare ophthalmic disorder,en,19056,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19071,228123,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228123,en,Coccidioidomycosis,en,1,10557,68416,Rare infectious disease,en,19071,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19070,228119,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228119,en,Fusariosis,en,1,10557,68416,Rare infectious disease,en,19070,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19069,228116,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228116,en,Hughes-Stovin syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,19069,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19068,228113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228113,en,Anal fistula,en,1,12954,97935,Rare gastroenterologic disease,en,19068,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3768,389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389,en,Langerhans cell histiocytosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,3768,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19064,228012,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012,en,Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,en,1,13054,98036,Rare otorhinolaryngologic disease,en,19064,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3751,616,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=616,en,Medulloblastoma,en,1,19592,250908,Rare neoplastic disease,en,3751,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3747,543,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543,en,Burkitt lymphoma,en,1,19592,250908,Rare neoplastic disease,en,3747,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3759,319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319,en,Skeletal Ewing sarcoma,en,1,19592,250908,Rare neoplastic disease,en,3759,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19054,227535,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227535,en,Hereditary breast cancer,en,1,19592,250908,Rare neoplastic disease,en,19054,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3758,668,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=668,en,Osteosarcoma,en,1,19592,250908,Rare neoplastic disease,en,3758,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19053,227510,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227510,en,"Multiple system atrophy, cerebellar type",en,1,13024,98006,Rare neurologic disease,en,19053,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3752,360,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=360,en,Glioblastoma,en,1,19592,250908,Rare neoplastic disease,en,3752,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3733,1957,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1957,en,Esthesioneuroblastoma,en,1,19592,250908,Rare neoplastic disease,en,3733,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3734,2030,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2030,en,Fibrosarcoma,en,1,19592,250908,Rare neoplastic disease,en,3734,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3735,2126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2126,en,Solitary fibrous tumor,en,1,19592,250908,Rare neoplastic disease,en,3735,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3728,758,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758,en,Pseudoxanthoma elasticum,en,1,11896,89826,Rare skin disease,en,3728,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3729,419,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419,en,Hyperprolinemia type 1,en,1,10507,68367,Rare inborn errors of metabolism,en,3729,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3731,1501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1501,en,Adrenocortical carcinoma,en,1,19592,250908,Rare neoplastic disease,en,3731,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19036,226316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226316,en,Genetic transient congenital hypothyroidism,en,1,12996,97978,Rare endocrine disease,en,19036,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19033,226307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226307,en,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,en,1,12996,97978,Rare endocrine disease,en,19033,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3737,3148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3148,en,Malignant peripheral nerve sheath tumor,en,1,19592,250908,Rare neoplastic disease,en,3737,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3738,3273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3273,en,Synovial sarcoma,en,1,19592,250908,Rare neoplastic disease,en,3738,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19035,226313,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226313,en,Congenital hypothyroidism due to maternal intake of antithyroid drugs,en,1,12996,97978,Rare endocrine disease,en,19035,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3739,391,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391,en,Classic Hodgkin lymphoma,en,1,19592,250908,Rare neoplastic disease,en,3739,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3717,2260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260,en,Oligomeganephronia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3717,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3716,503,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503,en,Larsen syndrome,en,1,12333,93419,Rare bone disease,en,3716,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3719,1652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652,en,Dent disease,en,1,12456,93626,Rare renal disease,en,3719,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3715,2478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2478,en,Megalencephalic leukoencephalopathy with subcortical cysts,en,1,13024,98006,Rare neurologic disease,en,3715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3727,3337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3337,en,Primary Fanconi renotubular syndrome,en,1,12456,93626,Rare renal disease,en,3727,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3726,223,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223,en,Nephrogenic diabetes insipidus,en,1,12456,93626,Rare renal disease,en,3726,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3723,757,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=757,en,Pseudohypoaldosteronism type 2,en,1,12456,93626,Rare renal disease,en,3723,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19131,228423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228423,en,Monocytopenia with susceptibility to infections,en,1,13022,98004,Rare immune disease,en,19131,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3705,521,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521,en,Chronic myeloid leukemia,en,1,19592,250908,Rare neoplastic disease,en,3705,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19128,228415,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228415,en,5q35 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19128,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3704,132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132,en,Butyrylcholinesterase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,3704,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19134,229717,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229717,en,Isolated agammaglobulinemia,en,1,13022,98004,Rare immune disease,en,19134,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19132,228426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426,en,Syndromic multisystem autoimmune disease due to Itch deficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19132,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3709,2345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345,en,Isolated Klippel-Feil syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3709,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3708,1333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1333,en,Familial pancreatic carcinoma,en,1,19592,250908,Rare neoplastic disease,en,3708,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19123,228396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396,en,Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,19123,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19120,228387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228387,en,Spondylo-megaepiphyseal-metaphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,19120,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19121,228390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390,en,Frontonasal dysplasia-alopecia-genital anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19121,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19127,228410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410,en,Polyvalvular heart disease syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19127,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19124,228399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228399,en,8q12 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19124,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19125,228402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402,en,2q23.1 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19125,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19115,228366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366,en,CLN7 disease,en,1,13024,98006,Rare neurologic disease,en,19115,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19114,228363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363,en,CLN6 disease,en,1,13024,98006,Rare neurologic disease,en,19114,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19113,228360,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360,en,CLN5 disease,en,1,13024,98006,Rare neurologic disease,en,19113,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19112,228357,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228357,en,CLN9 disease,en,1,13024,98006,Rare neurologic disease,en,19112,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19119,228384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384,en,5q14.3 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19119,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19118,228379,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228379,en,Virus-associated trichodysplasia spinulosa,en,1,11896,89826,Rare skin disease,en,19118,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19117,228374,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228374,en,Charcot-Marie-Tooth disease type 2B5,en,1,13024,98006,Rare neurologic disease,en,19117,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19116,228371,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228371,en,Foodborne botulism,en,1,10557,68416,Rare infectious disease,en,19116,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19107,228340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228340,en,CLN4A disease,en,1,13024,98006,Rare neurologic disease,en,19107,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19106,228337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337,en,CLN10 disease,en,1,13024,98006,Rare neurologic disease,en,19106,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19105,228329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329,en,CLN1 disease,en,1,13024,98006,Rare neurologic disease,en,19105,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19111,228354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354,en,CLN8 disease,en,1,13024,98006,Rare neurologic disease,en,19111,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19110,228349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349,en,CLN2 disease,en,1,13024,98006,Rare neurologic disease,en,19110,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19109,228346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346,en,CLN3 disease,en,1,13024,98006,Rare neurologic disease,en,19109,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19108,228343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343,en,CLN4B disease,en,1,13024,98006,Rare neurologic disease,en,19108,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19096,228290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228290,en,White fibrous papulosis of the neck,en,1,11896,89826,Rare skin disease,en,19096,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19097,228293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228293,en,Pseudoxanthoma elasticum-like papillary dermal elastolysis,en,1,11896,89826,Rare skin disease,en,19097,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19098,228299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228299,en,Mid-dermal elastolysis,en,1,11896,89826,Rare skin disease,en,19098,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19099,228302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302,en,"Carnitine palmitoyl transferase II deficiency, myopathic form",en,1,10507,68367,Rare inborn errors of metabolism,en,19099,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19100,228305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305,en,"Carnitine palmitoyl transferase II deficiency, severe infantile form",en,1,10507,68367,Rare inborn errors of metabolism,en,19100,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19101,228308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308,en,"Carnitine palmitoyl transferase II deficiency, neonatal form",en,1,10507,68367,Rare inborn errors of metabolism,en,19101,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19088,228240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228240,en,Elastoderma,en,1,11896,89826,Rare skin disease,en,19088,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3664,135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135,en,CACH syndrome,en,1,13024,98006,Rare neurologic disease,en,3664,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19089,228243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228243,en,Elastofibroma dorsi,en,1,11896,89826,Rare skin disease,en,19089,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19090,228247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228247,en,Acquired pseudoxanthoma elasticum,en,1,11896,89826,Rare skin disease,en,19090,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19091,228254,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228254,en,Elastoma,en,1,11896,89826,Rare skin disease,en,19091,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19092,228264,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228264,en,Papular elastorrhexis,en,1,11896,89826,Rare skin disease,en,19092,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19093,228272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228272,en,Primary anetoderma,en,1,11896,89826,Rare skin disease,en,19093,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19094,228277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228277,en,Familial anetoderma,en,1,11896,89826,Rare skin disease,en,19094,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19095,228285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228285,en,Acquired cutis laxa,en,1,11896,89826,Rare skin disease,en,19095,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19081,228190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190,en,Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19081,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3656,3203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3203,en,Overhydrated hereditary stomatocytosis,en,1,13010,97992,Rare hematologic disease,en,3656,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3657,3202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3202,en,Dehydrated hereditary stomatocytosis,en,1,13010,97992,Rare hematologic disease,en,3657,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3662,1544,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1544,en,Benign focal seizures of adolescence,en,1,13024,98006,Rare neurologic disease,en,3662,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19087,228236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228236,en,Linear focal elastosis,en,1,11896,89826,Rare skin disease,en,19087,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19086,228227,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228227,en,Late-onset focal dermal elastosis,en,1,11896,89826,Rare skin disease,en,19086,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19072,228140,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228140,en,"Idiopathic ventricular fibrillation, non Brugada type",en,1,12948,97929,Rare cardiac disease,en,19072,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3650,1018,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018,en,X-linked Alport syndrome-diffuse leiomyomatosis,en,1,12456,93626,Rare renal disease,en,3650,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19075,228165,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228165,en,Bal concentric sclerosis,en,1,13024,98006,Rare neurologic disease,en,19075,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3651,306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306,en,Benign familial infantile epilepsy,en,1,13024,98006,Rare neurologic disease,en,3651,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19074,228157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228157,en,Marburg acute multiple sclerosis,en,1,13024,98006,Rare neurologic disease,en,19074,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3652,328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328,en,Congenital factor X deficiency,en,1,13010,97992,Rare hematologic disease,en,3652,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19077,228174,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228174,en,Autosomal dominant Charcot-Marie-Tooth disease type 2N,en,1,13024,98006,Rare neurologic disease,en,19077,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19076,228169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228169,en,Autosomal dominant striatal neurodegeneration,en,1,13024,98006,Rare neurologic disease,en,19076,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3653,2132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132,en,Hemoglobin C disease,en,1,13010,97992,Rare hematologic disease,en,3653,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3654,2133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133,en,Hemoglobin E disease,en,1,13010,97992,Rare hematologic disease,en,3654,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19078,228179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228179,en,Autosomal dominant Charcot-Marie-Tooth disease type 2M,en,1,13024,98006,Rare neurologic disease,en,19078,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3655,288,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=288,en,Hereditary elliptocytosis,en,1,13010,97992,Rare hematologic disease,en,3655,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19198,231531,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531,en,Hermansky-Pudlak syndrome due to BLOC-1 deficiency,en,1,13022,98004,Rare immune disease,en,19198,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19196,231512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512,en,Hermansky-Pudlak syndrome due to BLOC-2 deficiency,en,1,13022,98004,Rare immune disease,en,19196,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3644,1320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1320,en,Idiopathic camptocormia,en,1,13024,98006,Rare neurologic disease,en,3644,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3643,256,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=256,en,Early-onset generalized limb-onset dystonia,en,1,13024,98006,Rare neurologic disease,en,3643,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19195,231500,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500,en,Hermansky-Pudlak syndrome due to BLOC-3 deficiency,en,1,13022,98004,Rare immune disease,en,19195,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3641,441,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441,en,Pure autonomic failure,en,1,13024,98006,Rare neurologic disease,en,3641,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19192,231457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231457,en,Acute pandysautonomia,en,1,13024,98006,Rare neurologic disease,en,19192,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19193,231466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231466,en,Acute sensory ataxic neuropathy,en,1,13024,98006,Rare neurologic disease,en,19193,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19190,231445,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231445,en,Paraparetic variant of Guillain-Barr syndrome,en,1,13024,98006,Rare neurologic disease,en,19190,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19191,231450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231450,en,Acute pure sensory neuropathy,en,1,13024,98006,Rare neurologic disease,en,19191,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3637,2073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2073,en,Narcolepsy type 1,en,1,13024,98006,Rare neurologic disease,en,3637,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19189,231426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231426,en,Pharyngeal-cervical-brachial variant of Guillain-Barr syndrome,en,1,13024,98006,Rare neurologic disease,en,19189,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19184,231401,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231401,en,Alpha-thalassemia-myelodysplastic syndrome,en,1,13010,97992,Rare hematologic disease,en,19184,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3630,2611,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2611,en,Linear verrucous nevus syndrome,en,1,11896,89826,Rare skin disease,en,3630,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19182,231393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231393,en,Beta-thalassemia-X-linked thrombocytopenia syndrome,en,1,13010,97992,Rare hematologic disease,en,19182,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3631,809,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=809,en,Mixed connective tissue disease,en,1,13041,98023,Rare systemic or rheumatologic disease,en,3631,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3626,1309,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309,en,Medullary sponge kidney,en,1,12469,93890,Rare developmental defect during embryogenesis,en,3626,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19177,231249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231249,en,Hemoglobin E-beta-thalassemia syndrome,en,1,13010,97992,Rare hematologic disease,en,19177,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19176,231242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231242,en,Hemoglobin C-beta-thalassemia syndrome,en,1,13010,97992,Rare hematologic disease,en,19176,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3625,2197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2197,en,Idiopathic hypercalciuria,en,1,12456,93626,Rare renal disease,en,3625,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19175,231237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237,en,Delta-beta-thalassemia,en,1,13010,97992,Rare hematologic disease,en,19175,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19173,231226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226,en,Dominant beta-thalassemia,en,1,13010,97992,Rare hematologic disease,en,19173,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3621,18,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=18,en,Distal renal tubular acidosis,en,1,12456,93626,Rare renal disease,en,3621,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19172,231222,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222,en,Beta-thalassemia intermedia,en,1,13010,97992,Rare hematologic disease,en,19172,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3618,160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160,en,Castleman disease,en,1,13010,97992,Rare hematologic disease,en,3618,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19171,231214,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214,en,Beta-thalassemia major,en,1,13010,97992,Rare hematologic disease,en,19171,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3619,2841,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2841,en,Familial benign chronic pemphigus,en,1,11896,89826,Rare skin disease,en,3619,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19169,231183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183,en,Usher syndrome type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19169,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3616,347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347,en,Frasier syndrome,en,1,12456,93626,Rare renal disease,en,3616,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19168,231178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231178,en,Usher syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19168,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3613,1670,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670,en,Chronic diarrhea with villous atrophy,en,1,12954,97935,Rare gastroenterologic disease,en,3613,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19165,231154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231154,en,Combined immunodeficiency due to partial RAG1 deficiency,en,1,13022,98004,Rare immune disease,en,19165,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3612,2596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596,en,Myopathy and diabetes mellitus,en,1,13024,98006,Rare neurologic disease,en,3612,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3615,2966,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2966,en,Properdin deficiency,en,1,13022,98004,Rare immune disease,en,3615,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19166,231160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231160,en,Familial cerebral saccular aneurysm,en,1,13024,98006,Rare neurologic disease,en,19166,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19167,231169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231169,en,Usher syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19167,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19160,231137,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137,en,Silver-Russell syndrome due to 7p11.2p13 microduplication,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19160,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19161,231140,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140,en,Silver-Russell syndrome due to an imprinting defect of 11p15,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19161,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19162,231144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144,en,Silver-Russell syndrome due to 11p15 microduplication,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19162,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3611,2194,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2194,en,Anti-HLA hyperimmunization,en,1,13022,98004,Rare immune disease,en,3611,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19163,231147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147,en,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19163,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19156,231120,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120,en,Beckwith-Wiedemann syndrome due to CDKN1C mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19156,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19158,231127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127,en,Beckwith-Wiedemann syndrome due to 11p15 microdeletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19158,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19159,231130,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130,en,Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19159,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19152,231080,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231080,en,High-grade dysplasia in patients with Barrett esophagus,en,1,12954,97935,Rare gastroenterologic disease,en,19152,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19153,231108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231108,en,Rhabdoid tumor predisposition syndrome,en,1,19592,250908,Rare neoplastic disease,en,19153,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3600,405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405,en,Familial hypocalciuric hypercalcemia,en,1,12996,97978,Rare endocrine disease,en,3600,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19154,231111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231111,en,Drug-induced lupus erythematosus,en,1,13041,98023,Rare systemic or rheumatologic disease,en,19154,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19155,231117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117,en,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19155,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3596,1223,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1223,en,Balantidiasis,en,1,10557,68416,Rare infectious disease,en,3596,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19148,231040,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231040,en,Familial generalized lentiginosis,en,1,11896,89826,Rare skin disease,en,19148,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3599,3318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318,en,Essential thrombocythemia,en,1,13010,97992,Rare hematologic disease,en,3599,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19145,230857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857,en,Ehlers-Danlos/osteogenesis imperfecta syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,19145,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19144,230851,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851,en,Cardiac-valvular Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,19144,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19147,231031,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231031,en,Erythema palmare hereditarium,en,1,11896,89826,Rare skin disease,en,19147,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3595,913,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913,en,Zollinger-Ellison syndrome,en,1,12996,97978,Rare endocrine disease,en,3595,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19146,231013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231013,en,Congenital trigeminal anesthesia,en,1,13024,98006,Rare neurologic disease,en,19146,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19141,230800,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230800,en,Toxin-mediated infectious botulism,en,1,10557,68416,Rare infectious disease,en,19141,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,3590,82,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82,en,Hereditary thrombophilia due to congenital antithrombin deficiency,en,1,13010,97992,Rare hematologic disease,en,3590,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19142,230839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839,en,Classical-like Ehlers-Danlos syndrome type 1,en,1,13041,98023,Rare systemic or rheumatologic disease,en,19142,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19261,238305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238305,en,Infundibulo-neurohypophysitis,en,1,12996,97978,Rare endocrine disease,en,19261,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19260,238269,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269,en,AApoAII amyloidosis,en,1,12456,93626,Rare renal disease,en,19260,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19263,238446,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238446,en,15q11q13 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19263,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19262,238329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329,en,Severe X-linked mitochondrial encephalomyopathy,en,1,13024,98006,Rare neurologic disease,en,19262,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19202,231573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231573,en,Congenital erosive and vesicular dermatosis,en,1,11896,89826,Rare skin disease,en,19202,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19203,231580,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231580,en,Primary unilateral adrenal hyperplasia,en,1,12996,97978,Rare endocrine disease,en,19203,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19200,231556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556,en,Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,en,1,11896,89826,Rare skin disease,en,19200,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19201,231568,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231568,en,Autosomal dominant generalized dystrophic epidermolysis bullosa,en,1,11896,89826,Rare skin disease,en,19201,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19206,231632,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231632,en,Ectopic aldosterone-producing tumor,en,1,12996,97978,Rare endocrine disease,en,19206,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19205,231625,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231625,en,Adrenocortical carcinoma with pure aldosterone hypersecretion,en,1,12996,97978,Rare endocrine disease,en,19205,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,4043,1900,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900,en,Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,en,1,13041,98023,Rare systemic or rheumatologic disease,en,4043,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19210,231671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231671,en,Isolated growth hormone deficiency type IB,en,1,12996,97978,Rare endocrine disease,en,19210,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,4042,286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286,en,Vascular Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,4042,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19211,231679,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231679,en,Isolated growth hormone deficiency type II,en,1,12996,97978,Rare endocrine disease,en,19211,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,4041,285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285,en,Hypermobile Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,4041,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19209,231662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231662,en,Isolated growth hormone deficiency type IA,en,1,12996,97978,Rare endocrine disease,en,19209,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19214,231736,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231736,en,Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,19214,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19215,231742,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231742,en,Epibulbar lipodermoid-preauricular appendage-polythelia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19215,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,4046,257,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257,en,Epidermolysis bullosa simplex with muscular dystrophy,en,1,11896,89826,Rare skin disease,en,4046,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,4045,1901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901,en,Dermatosparaxis Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,4045,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19212,231692,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231692,en,Isolated growth hormone deficiency type III,en,1,12996,97978,Rare endocrine disease,en,19212,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19213,231720,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720,en,Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,en,1,12996,97978,Rare endocrine disease,en,19213,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,4044,1899,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899,en,Arthrochalasia Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,4044,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,4048,839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839,en,"Congenital nephrotic syndrome, Finnish type",en,1,12456,93626,Rare renal disease,en,4048,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,4054,531,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531,en,Miller-Dieker syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,4054,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,4058,1084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084,en,Isolated lissencephaly type 1 without known genetic defects,en,1,12469,93890,Rare developmental defect during embryogenesis,en,4058,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,4059,1083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083,en,Microlissencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,4059,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,4057,452,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452,en,X-linked lissencephaly with abnormal genitalia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,4057,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19300,238750,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238750,en,4q21 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19300,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19302,238763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238763,en,Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,en,1,12984,97966,Rare ophthalmic disorder,en,19302,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19298,238722,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238722,en,Familial congenital mirror movements,en,1,13024,98006,Rare neurologic disease,en,19298,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19299,238744,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744,en,Mammary-digital-nail syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19299,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19305,238769,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238769,en,1q44 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19305,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19269,238505,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505,en,Combined immunodeficiency due to CD27 deficiency,en,1,13022,98004,Rare immune disease,en,19269,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19266,238468,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468,en,Hypohidrotic ectodermal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19266,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19267,238475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475,en,Familial hypercholanemia,en,1,10507,68367,Rare inborn errors of metabolism,en,19267,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19264,238455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455,en,Infantile dystonia-parkinsonism,en,1,13024,98006,Rare neurologic disease,en,19264,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19265,238459,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459,en,SLC35A1-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,19265,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19278,238578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578,en,Familial clubfoot due to 17q23.1q23.2 microduplication,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19278,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19279,238583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238583,en,Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,19279,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19276,238557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238557,en,Chuvash erythrocytosis,en,1,13010,97992,Rare hematologic disease,en,19276,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19277,238569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569,en,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,19277,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19272,238523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523,en,Atypical hypotonia-cystinuria syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,19272,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19287,238637,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238637,en,Megacystis-megaureter syndrome,en,1,14860,101433,Rare urogenital disease,en,19287,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19286,238624,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238624,en,Idiopathic intracranial hypertension,en,1,13024,98006,Rare neurologic disease,en,19286,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19285,238621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238621,en,Ileal pouch anal anastomosis related faecal incontinence,en,1,12954,97935,Rare gastroenterologic disease,en,19285,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19282,238613,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613,en,Beckwith-Wiedemann syndrome due to NSD1 mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19282,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19281,238606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238606,en,Primary orthostatic tremor,en,1,13024,98006,Rare neurologic disease,en,19281,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19280,238593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238593,en,IgG4-related mesenteritis,en,1,17578,165711,Rare abdominal surgical disease,en,19280,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19294,238688,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238688,en,Neonatal iodine exposure,en,1,12996,97978,Rare endocrine disease,en,19294,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19293,238670,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238670,en,Isolated thyrotropin-releasing hormone deficiency,en,1,12996,97978,Rare endocrine disease,en,19293,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19292,238666,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666,en,Isolated congenital hypogonadotropic hypogonadism,en,1,12996,97978,Rare endocrine disease,en,19292,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19291,238654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654,en,"Congenital primary megaureter, nonrefluxing and unobstructed form",en,1,14860,101433,Rare urogenital disease,en,19291,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19290,238650,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650,en,"Congenital primary megaureter, refluxing form",en,1,14860,101433,Rare urogenital disease,en,19290,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19289,238646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646,en,"Congenital primary megaureter, obstructed form",en,1,14860,101433,Rare urogenital disease,en,19289,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19288,238642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642,en,"Primary megaureter, adult-onset form",en,1,14860,101433,Rare urogenital disease,en,19288,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19331,240071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071,en,Classic progressive supranuclear palsy syndrome,en,1,13024,98006,Rare neurologic disease,en,19331,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19335,240112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112,en,Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,en,1,13024,98006,Rare neurologic disease,en,19335,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19334,240103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103,en,Progressive supranuclear palsy-corticobasal syndrome,en,1,13024,98006,Rare neurologic disease,en,19334,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19333,240094,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094,en,Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,en,1,13024,98006,Rare neurologic disease,en,19333,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19332,240085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085,en,Progressive supranuclear palsy-parkinsonism syndrome,en,1,13024,98006,Rare neurologic disease,en,19332,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,19345,240760,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760,en,Nijmegen breakage syndrome-like disorder,en,1,12469,93890,Rare developmental defect during embryogenesis,en,19345,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22001,331226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331226,en,Susceptibility to infection due to TYK2 deficiency,en,1,13022,98004,Rare immune disease,en,22001,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22003,331235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331235,en,Selective IgM deficiency,en,1,13022,98004,Rare immune disease,en,22003,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21992,331176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331176,en,Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency,en,1,13022,98004,Rare immune disease,en,21992,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21994,331187,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331187,en,Immunodeficiency due to MASP-2 deficiency,en,1,13022,98004,Rare immune disease,en,21994,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21995,331190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331190,en,Immunodeficiency due to ficolin3 deficiency,en,1,13022,98004,Rare immune disease,en,21995,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21997,331206,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331206,en,Severe combined immunodeficiency due to complete RAG1/2 deficiency,en,1,13022,98004,Rare immune disease,en,21997,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21968,330064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330064,en,Chronic actinic dermatitis,en,1,11896,89826,Rare skin disease,en,21968,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21955,330001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330001,en,Wild type ATTR amyloidosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,21955,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21952,329977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329977,en,Classic neuroendocrine tumor of appendix,en,1,19592,250908,Rare neoplastic disease,en,21952,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21953,329984,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329984,en,Goblet cell carcinoma,en,1,19592,250908,Rare neoplastic disease,en,21953,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21958,330012,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330012,en,High altitude pulmonary edema,en,1,12974,97955,Rare respiratory disease,en,21958,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21959,330015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330015,en,Lead poisoning,en,1,15031,108999,Rare disorder due to toxic effects,en,21959,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21962,330032,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330032,en,Hemoglobin Lepore-beta-thalassemia syndrome,en,1,13010,97992,Rare hematologic disease,en,21962,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21963,330041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330041,en,Hemoglobin M disease,en,1,13010,97992,Rare hematologic disease,en,21963,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21960,330021,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330021,en,Mercury poisoning,en,1,15031,108999,Rare disorder due to toxic effects,en,21960,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21961,330029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029,en,Hypotrichosis-deafness syndrome,en,1,11896,89826,Rare skin disease,en,21961,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21966,330058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330058,en,Hydroa vacciniforme,en,1,11896,89826,Rare skin disease,en,21966,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21967,330061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330061,en,Actinic prurigo,en,1,11896,89826,Rare skin disease,en,21967,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21964,330050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050,en,DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,en,1,13024,98006,Rare neurologic disease,en,21964,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21965,330054,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054,en,Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,en,1,13024,98006,Rare neurologic disease,en,21965,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21941,329813,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329813,en,Mosaic genome-wide paternal uniparental disomy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21941,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21940,329802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802,en,5p13 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21940,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21943,329883,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329883,en,Non-hypoproteinemic hypertrophic gastropathy,en,1,12954,97935,Rare gastroenterologic disease,en,21943,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21942,329874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329874,en,Idiopathic giant cell myocarditis,en,1,12948,97929,Rare cardiac disease,en,21942,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21937,329475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475,en,Spastic paraplegia-Paget disease of bone syndrome,en,1,13024,98006,Rare neurologic disease,en,21937,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21939,329481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481,en,Lipoprotein glomerulopathy,en,1,12456,93626,Rare renal disease,en,21939,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21938,329478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329478,en,Adult-onset distal myopathy due to VCP mutation,en,1,13024,98006,Rare neurologic disease,en,21938,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21949,329942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329942,en,Transient neonatal multiple acyl-CoA dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,21949,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21948,329931,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329931,en,C3 glomerulonephritis,en,1,12456,93626,Rare renal disease,en,21948,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21951,329971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971,en,Generalized juvenile polyposis/juvenile polyposis coli,en,1,12954,97935,Rare gastroenterologic disease,en,21951,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21950,329967,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329967,en,Intermittent hydrarthrosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,21950,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21945,329894,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329894,en,Juvenile overlap myositis,en,1,13024,98006,Rare neurologic disease,en,21945,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21947,329918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329918,en,C3 glomerulopathy,en,1,12456,93626,Rare renal disease,en,21947,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21946,329903,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329903,en,Immunoglobulin-mediated membranoproliferative glomerulonephritis,en,1,12456,93626,Rare renal disease,en,21946,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21924,329308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308,en,Fatty acid hydroxylase-associated neurodegeneration,en,1,13024,98006,Rare neurologic disease,en,21924,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21925,329314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329314,en,Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,21925,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21926,329319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319,en,Thrombocythemia with distal limb defects,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21926,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21927,329324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329324,en,Inverse Klippel-Trnaunay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21927,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21922,329284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284,en,Beta-propeller protein-associated neurodegeneration,en,1,13024,98006,Rare neurologic disease,en,21922,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21933,329457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329457,en,Distal arthrogryposis type 5D,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21933,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21934,329466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329466,en,"Autosomal dominant focal dystonia, DYT25 type",en,1,13024,98006,Rare neurologic disease,en,21934,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21935,329469,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329469,en,Acute megakaryoblastic leukemia without Down syndrome,en,1,19592,250908,Rare neoplastic disease,en,21935,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21928,329329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329329,en,Autosomal recessive frontotemporal pachygyria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21928,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21929,329332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329332,en,Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,en,1,13024,98006,Rare neurologic disease,en,21929,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21930,329336,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336,en,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,en,1,10507,68367,Rare inborn errors of metabolism,en,21930,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21911,329228,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228,en,Microcephalic primordial dwarfism due to ZNF335 deficiency,en,1,12333,93419,Rare bone disease,en,21911,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21910,329224,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329224,en,Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21910,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21909,329217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329217,en,Cerebral sinovenous thrombosis,en,1,13046,98028,Rare circulatory system disease,en,21909,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21908,329211,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329211,en,Autosomal dominant neovascular inflammatory vitreoretinopathy,en,1,12984,97966,Rare ophthalmic disorder,en,21908,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21906,329195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329195,en,Developmental delay with autism spectrum disorder and gait instability,en,1,13024,98006,Rare neurologic disease,en,21906,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21905,329191,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191,en,Tall stature-long halluces-multiple extra-epiphyses syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21905,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21904,329178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178,en,Congenital muscular dystrophy with intellectual disability and severe epilepsy,en,1,10507,68367,Rare inborn errors of metabolism,en,21904,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21919,329258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329258,en,Autosomal dominant Charcot-Marie-Tooth disease type 2Q,en,1,13024,98006,Rare neurologic disease,en,21919,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21916,329249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329249,en,Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,en,1,12996,97978,Rare endocrine disease,en,21916,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21914,329242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329242,en,Congenital chronic diarrhea with protein-losing enteropathy,en,1,12954,97935,Rare gastroenterologic disease,en,21914,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21913,329235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329235,en,X-linked central congenital hypothyroidism with late-onset testicular enlargement,en,1,12996,97978,Rare endocrine disease,en,21913,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21903,329173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329173,en,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,en,1,13022,98004,Rare immune disease,en,21903,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,4511,329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329,en,Congenital factor XI deficiency,en,1,13010,97992,Rare hematologic disease,en,4511,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,4510,1243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1243,en,Best vitelliform macular dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,4510,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21843,325524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524,en,Classic congenital lipoid adrenal hyperplasia due to STAR deficency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21843,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21841,325448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448,en,Leydig cell hypoplasia due to LHB deficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21841,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21844,325529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529,en,Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21844,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21833,325124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325124,en,Testicular agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21833,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21838,325345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325345,en,"46,XY ovotesticular difference of sex development",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21838,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21817,324964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324964,en,Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,21817,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21818,324972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324972,en,MAGIC syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,21818,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21819,324977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977,en,Proteasome-associated autoinflammatory syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,21819,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21801,324718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324718,en,ABetaA21G amyloidosis,en,1,13024,98006,Rare neurologic disease,en,21801,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21800,324713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324713,en,"ABeta amyloidosis, Italian type",en,1,13024,98006,Rare neurologic disease,en,21800,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21803,324737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737,en,SRD5A3-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,21803,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21802,324723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723,en,"ABeta amyloidosis, Arctic type",en,1,13024,98006,Rare neurologic disease,en,21802,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21797,324648,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324648,en,Invasive non-typhoidal salmonellosis,en,1,10557,68416,Rare infectious disease,en,21797,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21796,324636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324636,en,Autoerythrocyte sensitization syndrome,en,1,13022,98004,Rare immune disease,en,21796,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21799,324708,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324708,en,"ABeta amyloidosis, Iowa type",en,1,13024,98006,Rare neurologic disease,en,21799,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21798,324703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703,en,ABetaL34V amyloidosis,en,1,13024,98006,Rare neurologic disease,en,21798,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21793,324611,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324611,en,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,en,1,13024,98006,Rare neurologic disease,en,21793,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21792,324604,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324604,en,Classic multiminicore myopathy,en,1,13024,98006,Rare neurologic disease,en,21792,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21795,324632,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324632,en,Hendra virus infection,en,1,10557,68416,Rare infectious disease,en,21795,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21794,324625,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324625,en,Chikungunya,en,1,10557,68416,Rare infectious disease,en,21794,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21790,324588,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324588,en,Familial dyskinesia and facial myokymia,en,1,13024,98006,Rare neurologic disease,en,21790,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21791,324601,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324601,en,X-linked cleft palate and ankyloglossia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21791,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21788,324581,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324581,en,Benign Samaritan congenital myopathy,en,1,13024,98006,Rare neurologic disease,en,21788,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21789,324585,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324585,en,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,en,1,13024,98006,Rare neurologic disease,en,21789,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21786,324569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324569,en,Pontocerebellar hypoplasia type 8,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21786,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21787,324575,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324575,en,Hyperinsulinism due to HNF1A deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,21787,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21784,324540,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324540,en,Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21784,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21785,324561,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324561,en,Hypopigmentation-punctate palmoplantar keratoderma syndrome,en,1,11896,89826,Rare skin disease,en,21785,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21782,324530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324530,en,Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,en,1,13022,98004,Rare immune disease,en,21782,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21783,324535,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535,en,Combined oxidative phosphorylation defect type 11,en,1,10507,68367,Rare inborn errors of metabolism,en,21783,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21781,324525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525,en,Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation,en,1,10507,68367,Rare inborn errors of metabolism,en,21781,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21778,324442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324442,en,Autosomal recessive axonal neuropathy with neuromyotonia,en,1,13024,98006,Rare neurologic disease,en,21778,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21776,324416,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324416,en,Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21776,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21777,324422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422,en,ALG13-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,21777,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21774,324410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324410,en,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21774,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21769,324381,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324381,en,Hereditary inclusion body myopathy type 4,en,1,13024,98006,Rare neurologic disease,en,21769,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21767,324364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324364,en,Mixed sclerosing bone dystrophy with extra-skeletal manifestations,en,1,12333,93419,Rare bone disease,en,21767,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21766,324353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324353,en,Congenital achiasma,en,1,13024,98006,Rare neurologic disease,en,21766,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21765,324321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321,en,Sinoatrial node dysfunction and deafness,en,1,13054,98036,Rare otorhinolaryngologic disease,en,21765,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21764,324313,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324313,en,9p13 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21764,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21763,324307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324307,en,Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome,en,1,12333,93419,Rare bone disease,en,21763,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21762,324299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299,en,Multiple paragangliomas associated with polycythemia,en,1,12996,97978,Rare endocrine disease,en,21762,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21761,324294,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324294,en,T-cell immunodeficiency with epidermodysplasia verruciformis,en,1,13022,98004,Rare immune disease,en,21761,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21760,324290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324290,en,Early-onset Lafora body disease,en,1,13024,98006,Rare neurologic disease,en,21760,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21758,324262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262,en,Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,en,1,13024,98006,Rare neurologic disease,en,21758,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21713,320360,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320360,en,MT-ATP6-related mitochondrial spastic paraplegia,en,1,13024,98006,Rare neurologic disease,en,21713,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21712,320355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320355,en,Autosomal dominant spastic paraplegia type 41,en,1,13024,98006,Rare neurologic disease,en,21712,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21715,320370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320370,en,Autosomal recessive spastic paraplegia type 43,en,1,13024,98006,Rare neurologic disease,en,21715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21714,320365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320365,en,Autosomal dominant spastic paraplegia type 36,en,1,13024,98006,Rare neurologic disease,en,21714,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21717,320380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320380,en,Autosomal recessive spastic paraplegia type 54,en,1,13024,98006,Rare neurologic disease,en,21717,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21716,320375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375,en,Autosomal recessive spastic paraplegia type 55,en,1,13024,98006,Rare neurologic disease,en,21716,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21719,320391,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320391,en,Autosomal recessive spastic paraplegia type 46,en,1,13024,98006,Rare neurologic disease,en,21719,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21718,320385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385,en,Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,en,1,13024,98006,Rare neurologic disease,en,21718,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21721,320401,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320401,en,Autosomal recessive spastic paraplegia type 44,en,1,13024,98006,Rare neurologic disease,en,21721,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21720,320396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320396,en,Autosomal recessive spastic paraplegia type 45,en,1,13024,98006,Rare neurologic disease,en,21720,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21723,320411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320411,en,Autosomal recessive spastic paraplegia type 56,en,1,13024,98006,Rare neurologic disease,en,21723,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21722,320406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320406,en,Spastic paraplegia-optic atrophy-neuropathy syndrome,en,1,13024,98006,Rare neurologic disease,en,21722,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21671,319547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319547,en,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,en,1,13022,98004,Rare immune disease,en,21671,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21666,319519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319519,en,Combined oxidative phosphorylation defect type 14,en,1,10507,68367,Rare inborn errors of metabolism,en,21666,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21667,319524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319524,en,Combined oxidative phosphorylation defect type 15,en,1,10507,68367,Rare inborn errors of metabolism,en,21667,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21664,319509,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319509,en,Combined oxidative phosphorylation defect type 9,en,1,10507,68367,Rare inborn errors of metabolism,en,21664,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21665,319514,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319514,en,Combined oxidative phosphorylation defect type 13,en,1,10507,68367,Rare inborn errors of metabolism,en,21665,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21678,319589,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319589,en,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,en,1,13022,98004,Rare immune disease,en,21678,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21679,319595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319595,en,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,en,1,13022,98004,Rare immune disease,en,21679,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21676,319574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319574,en,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,en,1,13022,98004,Rare immune disease,en,21676,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21677,319581,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319581,en,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,en,1,13022,98004,Rare immune disease,en,21677,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21674,319563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319563,en,Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,en,1,13022,98004,Rare immune disease,en,21674,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21675,319569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319569,en,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,en,1,13022,98004,Rare immune disease,en,21675,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21672,319552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319552,en,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,en,1,13022,98004,Rare immune disease,en,21672,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21673,319558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319558,en,Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,en,1,13022,98004,Rare immune disease,en,21673,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21687,319651,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651,en,Constitutional megaloblastic anemia with severe neurologic disease,en,1,13010,97992,Rare hematologic disease,en,21687,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21686,319646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646,en,PGM1-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,21686,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21685,319640,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319640,en,Retinal macular dystrophy type 2,en,1,12984,97966,Rare ophthalmic disorder,en,21685,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21684,319635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319635,en,Amyloidosis cutis dyschromia,en,1,11896,89826,Rare skin disease,en,21684,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21683,319623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319623,en,X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency,en,1,13022,98004,Rare immune disease,en,21683,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21682,319612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319612,en,X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency,en,1,13022,98004,Rare immune disease,en,21682,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21681,319605,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319605,en,X-linked mendelian susceptibility to mycobacterial diseases,en,1,13022,98004,Rare immune disease,en,21681,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21680,319600,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319600,en,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,en,1,13022,98004,Rare immune disease,en,21680,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21692,319678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678,en,Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,21692,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21691,319675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675,en,"Microcephalic primordial dwarfism, Dauber type",en,1,12333,93419,Rare bone disease,en,21691,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21690,319671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671,en,Alazami syndrome,en,1,12333,93419,Rare bone disease,en,21690,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21689,319667,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319667,en,Primary lymphoma of the conjunctiva,en,1,12984,97966,Rare ophthalmic disorder,en,21689,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21636,319254,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319254,en,Kyasanur forest disease,en,1,10557,68416,Rare infectious disease,en,21636,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21637,319266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319266,en,Omsk hemorrhagic fever,en,1,10557,68416,Rare infectious disease,en,21637,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21639,319276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319276,en,Clear cell renal carcinoma,en,1,19592,250908,Rare neoplastic disease,en,21639,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21632,319239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319239,en,Brazilian hemorrhagic fever,en,1,10557,68416,Rare infectious disease,en,21632,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21633,319244,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319244,en,Chapare hemorrhagic fever,en,1,10557,68416,Rare infectious disease,en,21633,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21634,319247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319247,en,Hantavirus pulmonary syndrome,en,1,10557,68416,Rare infectious disease,en,21634,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21635,319251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319251,en,Rift valley fever,en,1,10557,68416,Rare infectious disease,en,21635,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21645,319319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319319,en,Renal medullary carcinoma,en,1,19592,250908,Rare neoplastic disease,en,21645,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21646,319322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319322,en,Mucinous tubular and spindle cell renal carcinoma,en,1,19592,250908,Rare neoplastic disease,en,21646,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21647,319325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319325,en,Tubulocystic renal cell carcinoma,en,1,19592,250908,Rare neoplastic disease,en,21647,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21640,319287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319287,en,Multilocular cystic renal neoplasm of low malignant potential,en,1,19592,250908,Rare neoplastic disease,en,21640,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21641,319298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319298,en,Papillary renal cell carcinoma,en,1,19592,250908,Rare neoplastic disease,en,21641,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21642,319303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319303,en,Chromophobe renal cell carcinoma,en,1,19592,250908,Rare neoplastic disease,en,21642,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21643,319308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319308,en,MiT family translocation renal cell carcinoma,en,1,19592,250908,Rare neoplastic disease,en,21643,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21649,319332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319332,en,Autosomal recessive myogenic arthrogryposis multiplex congenita,en,1,13024,98006,Rare neurologic disease,en,21649,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21650,319340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340,en,Carney complex-trismus-pseudocamptodactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21650,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21661,319487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319487,en,Familial papillary or follicular thyroid carcinoma,en,1,19592,250908,Rare neoplastic disease,en,21661,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21660,319480,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319480,en,Acute myeloid leukemia with CEBPA somatic mutations,en,1,19592,250908,Rare neoplastic disease,en,21660,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21663,319504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319504,en,Combined oxidative phosphorylation defect type 8,en,1,10507,68367,Rare inborn errors of metabolism,en,21663,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21659,319465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465,en,Inherited acute myeloid leukemia,en,1,19592,250908,Rare neoplastic disease,en,21659,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21658,319462,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319462,en,Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations,en,1,19592,250908,Rare neoplastic disease,en,21658,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21626,319205,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319205,en,Bilateral massive adrenal hemorrhage,en,1,12996,97978,Rare endocrine disease,en,21626,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21627,319213,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319213,en,Lujo hemorrhagic fever,en,1,10557,68416,Rare infectious disease,en,21627,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21624,319195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195,en,Chondroectodermal dysplasia with night blindness,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21624,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21625,319199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319199,en,Autosomal recessive spastic paraplegia type 53,en,1,13024,98006,Rare neurologic disease,en,21625,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21630,319229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319229,en,Bolivian hemorrhagic fever,en,1,10557,68416,Rare infectious disease,en,21630,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21631,319234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319234,en,Venezuelan hemorrhagic fever,en,1,10557,68416,Rare infectious disease,en,21631,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21628,319218,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319218,en,Ebola hemorrhagic fever,en,1,10557,68416,Rare infectious disease,en,21628,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21629,319223,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319223,en,Argentine hemorrhagic fever,en,1,10557,68416,Rare infectious disease,en,21629,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21618,319160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319160,en,Congenital myopathy with internal nuclei and atypical cores,en,1,13024,98006,Rare neurologic disease,en,21618,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21619,319171,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319171,en,Distal 17p13.1 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21619,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21622,319189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319189,en,Familial cortical myoclonus,en,1,13024,98006,Rare neurologic disease,en,21622,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21623,319192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319192,en,Diencephalic-mesencephalic junction dysplasia,en,1,13024,98006,Rare neurologic disease,en,21623,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21621,319182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319182,en,Wiedemann-Steiner syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21621,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21581,317428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317428,en,Combined immunodeficiency due to ORAI1 deficiency,en,1,13022,98004,Rare immune disease,en,21581,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21580,317425,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317425,en,Severe combined immunodeficiency due to DNA-PKcs deficiency,en,1,13022,98004,Rare immune disease,en,21580,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21582,317430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317430,en,Combined immunodeficiency due to STIM1 deficiency,en,1,13022,98004,Rare immune disease,en,21582,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21584,317473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317473,en,Pancytopenia due to IKZF1 mutations,en,1,13022,98004,Rare immune disease,en,21584,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21585,317476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317476,en,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",en,1,13022,98004,Rare immune disease,en,21585,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21549,315311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311,en,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21549,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21548,315306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306,en,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21548,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21547,314993,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314993,en,Cataract-congenital heart disease-neural tube defect syndrome,en,1,13024,98006,Rare neurologic disease,en,21547,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21546,314978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314978,en,X-linked non progressive cerebellar ataxia,en,1,13024,98006,Rare neurologic disease,en,21546,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21545,314970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314970,en,Lymphocytic hypereosinophilic syndrome,en,1,13010,97992,Rare hematologic disease,en,21545,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21544,314962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314962,en,Secondary hypereosinophilic syndrome,en,1,13010,97992,Rare hematologic disease,en,21544,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21543,314950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950,en,Primary hypereosinophilic syndrome,en,1,13010,97992,Rare hematologic disease,en,21543,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21538,314918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918,en,Mild Canavan disease,en,1,13024,98006,Rare neurologic disease,en,21538,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21537,314911,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911,en,Severe Canavan disease,en,1,13024,98006,Rare neurologic disease,en,21537,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21517,314701,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701,en,Primary systemic amyloidosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,21517,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21516,314697,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314697,en,Acquired porencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21516,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21518,314709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709,en,Primary localized amyloidosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,21518,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21513,314679,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314679,en,Cerebrofacioarticular syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21513,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21512,314667,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667,en,TMEM165-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,21512,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21515,314689,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314689,en,Combined immunodeficiency due to STK4 deficiency,en,1,13022,98004,Rare immune disease,en,21515,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21514,314684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314684,en,Primary bone lymphoma,en,1,19592,250908,Rare neoplastic disease,en,21514,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21509,314652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314652,en,Variant ABeta2M amyloidosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,21509,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21508,314647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647,en,Non-progressive cerebellar ataxia with intellectual disability,en,1,13024,98006,Rare neurologic disease,en,21508,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21511,314662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314662,en,Segmental progressive overgrowth syndrome with fibroadipose hyperplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21511,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21510,314655,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314655,en,Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,en,1,13024,98006,Rare neurologic disease,en,21510,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21505,314629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629,en,CLN11 disease,en,1,13024,98006,Rare neurologic disease,en,21505,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21504,314621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314621,en,Duplication of the pituitary gland,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21504,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21507,314637,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314637,en,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,21507,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21506,314632,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632,en,ATP13A2-related juvenile neuronal ceroid lipofuscinosis,en,1,13024,98006,Rare neurologic disease,en,21506,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21532,314802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314802,en,Short stature due to partial GHR deficiency,en,1,12996,97978,Rare endocrine disease,en,21532,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21533,314811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314811,en,Short stature due to GHSR deficiency,en,1,12996,97978,Rare endocrine disease,en,21533,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21535,314889,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314889,en,Autosomal dominant proximal renal tubular acidosis,en,1,12456,93626,Rare renal disease,en,21535,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21528,314777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314777,en,Familial isolated pituitary adenoma,en,1,12996,97978,Rare endocrine disease,en,21528,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21529,314786,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314786,en,Silent pituitary adenoma,en,1,12996,97978,Rare endocrine disease,en,21529,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21530,314790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314790,en,Null pituitary adenoma,en,1,12996,97978,Rare endocrine disease,en,21530,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21531,314795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314795,en,SHOX-related short stature,en,1,12333,93419,Rare bone disease,en,21531,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21527,314769,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314769,en,Somatomammotropinoma,en,1,12996,97978,Rare endocrine disease,en,21527,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21520,314718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718,en,Lethal arteriopathy syndrome due to fibulin-4 deficiency,en,1,13046,98028,Rare circulatory system disease,en,21520,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21521,314721,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314721,en,Atypical dentin dysplasia due to SMOC2 deficiency,en,1,13044,98026,Rare odontologic disease,en,21521,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22486,370127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370127,en,Medich giant platelet syndrome,en,1,13010,97992,Rare hematologic disease,en,22486,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22484,370109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370109,en,Ataxia-telangiectasia variant,en,1,13024,98006,Rare neurologic disease,en,22484,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22482,370103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370103,en,"Primary dystonia, DYT17 type",en,1,13024,98006,Rare neurologic disease,en,22482,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22481,370097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097,en,Oculocutaneous albinism type 6,en,1,11896,89826,Rare skin disease,en,22481,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22480,370091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091,en,Oculocutaneous albinism type 5,en,1,11896,89826,Rare skin disease,en,22480,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22495,370396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370396,en,Small cell carcinoma of the ovary,en,1,19592,250908,Rare neoplastic disease,en,22495,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22491,370348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370348,en,Peripheral primitive neuroectodermal tumor,en,1,19592,250908,Rare neoplastic disease,en,22491,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22490,370334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370334,en,Extraskeletal Ewing sarcoma,en,1,19592,250908,Rare neoplastic disease,en,22490,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22488,370131,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370131,en,White platelet syndrome,en,1,13010,97992,Rare hematologic disease,en,22488,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22471,370046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370046,en,Didymosis aplasticosebacea,en,1,11896,89826,Rare skin disease,en,22471,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22468,370034,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370034,en,Familial syringomyelia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22468,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22469,370039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370039,en,Angora hair nevus,en,1,11896,89826,Rare skin disease,en,22469,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22466,370022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022,en,Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,en,1,13024,98006,Rare neurologic disease,en,22466,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22467,370026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370026,en,Acute myeloid leukemia with t(8;16)(p11;p13) translocation,en,1,19592,250908,Rare neoplastic disease,en,22467,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22464,370015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370015,en,"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type",en,1,12333,93419,Rare bone disease,en,22464,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22479,370088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370088,en,Acute infantile liver failure-multisystemic involvement syndrome,en,1,10772,57146,Rare hepatic disease,en,22479,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22476,370076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370076,en,Fetal carbamazepine syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22476,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22477,370079,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370079,en,Proximal 16p11.2 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22477,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22472,370052,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370052,en,SCALP syndrome,en,1,11896,89826,Rare skin disease,en,22472,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22473,370059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370059,en,NEVADA syndrome,en,1,11896,89826,Rare skin disease,en,22473,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22513,371007,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371007,en,Congenital muscular dystrophy with hyperlaxity,en,1,13024,98006,Rare neurologic disease,en,22513,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22512,370997,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997,en,Muscle-eye-brain disease with bilateral multicystic leucodystrophy,en,1,13024,98006,Rare neurologic disease,en,22512,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22500,370921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921,en,STT3A-CDG,en,1,13024,98006,Rare neurologic disease,en,22500,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22501,370924,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924,en,STT3B-CDG,en,1,13024,98006,Rare neurologic disease,en,22501,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22502,370927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927,en,SSR4-CDG,en,1,13024,98006,Rare neurologic disease,en,22502,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22503,370930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930,en,XYLT1-CDG,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22503,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22509,370959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959,en,Congenital muscular dystrophy with cerebellar involvement,en,1,13024,98006,Rare neurologic disease,en,22509,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22510,370968,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968,en,Congenital muscular dystrophy with intellectual disability,en,1,13024,98006,Rare neurologic disease,en,22510,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22511,370980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980,en,Congenital muscular dystrophy without intellectual disability,en,1,13024,98006,Rare neurologic disease,en,22511,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22504,370933,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933,en,GM3 synthase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,22504,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22507,370943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943,en,Autism spectrum disorder-epilepsy-arthrogryposis syndrome,en,1,13024,98006,Rare neurologic disease,en,22507,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22449,369929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369929,en,Primary hyperaldosteronism-seizures-neurological abnormalities syndrome,en,1,13024,98006,Rare neurologic disease,en,22449,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22448,369920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369920,en,Pontocerebellar hypoplasia type 9,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22448,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22451,369942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942,en,CADDS,en,1,13024,98006,Rare neurologic disease,en,22451,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22450,369939,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939,en,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,en,1,13024,98006,Rare neurologic disease,en,22450,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22453,369955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955,en,"Methylmalonic acidemia with homocystinuria, type cblJ",en,1,10507,68367,Rare inborn errors of metabolism,en,22453,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22452,369950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950,en,Intellectual disability-seizures-macrocephaly-obesity syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22452,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22455,369970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369970,en,Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,22455,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22454,369962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962,en,"Methylmalonic acidemia with homocystinuria, type cblX",en,1,10507,68367,Rare inborn errors of metabolism,en,22454,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22456,369979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369979,en,Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22456,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22459,369992,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369992,en,Severe dermatitis-multiple allergies-metabolic wasting syndrome,en,1,11896,89826,Rare skin disease,en,22459,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22461,370002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370002,en,Focal palmoplantar keratoderma with joint keratoses,en,1,11896,89826,Rare skin disease,en,22461,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22460,369999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369999,en,Diffuse palmoplantar keratoderma with painful fissures,en,1,11896,89826,Rare skin disease,en,22460,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22463,370010,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370010,en,Intellectual disability-facial dysmorphism-hand anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22463,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22433,369837,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837,en,Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,en,1,13024,98006,Rare neurologic disease,en,22433,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22434,369840,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369840,en,TRAPPC11-related limb-girdle muscular dystrophy R18,en,1,13024,98006,Rare neurologic disease,en,22434,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22435,369847,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369847,en,Intellectual disability-hyperkinetic movement-truncal ataxia syndrome,en,1,13024,98006,Rare neurologic disease,en,22435,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22437,369852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369852,en,Congenital neutropenia-myelofibrosis-nephromegaly syndrome,en,1,13022,98004,Rare immune disease,en,22437,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22438,369861,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369861,en,Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,en,1,13022,98004,Rare immune disease,en,22438,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22439,369867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369867,en,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,en,1,13024,98006,Rare neurologic disease,en,22439,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22440,369873,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369873,en,Obesity due to SIM1 deficiency,en,1,12996,97978,Rare endocrine disease,en,22440,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22441,369881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369881,en,2p21 microdeletion syndrome without cystinuria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22441,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22443,369891,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891,en,Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22443,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22445,369897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369897,en,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies",en,1,10507,68367,Rare inborn errors of metabolism,en,22445,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22447,369913,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913,en,Combined oxidative phosphorylation defect type 17,en,1,10507,68367,Rare inborn errors of metabolism,en,22447,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22366,364063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364063,en,Infantile epileptic-dyskinetic encephalopathy,en,1,13024,98006,Rare neurologic disease,en,22366,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22365,364055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364055,en,Severe early-childhood-onset retinal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,22365,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22362,364039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364039,en,Hydroa vacciniforme-like lymphoma,en,1,19592,250908,Rare neoplastic disease,en,22362,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22363,364043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364043,en,ALK-positive large B-cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,22363,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22360,364028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364028,en,X-linked intellectual disability due to GRIA3 mutations,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22360,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22361,364033,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364033,en,Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood,en,1,19592,250908,Rare neoplastic disease,en,22361,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5016,772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772,en,Infantile Refsum disease,en,1,10507,68367,Rare inborn errors of metabolism,en,5016,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5015,1194,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194,en,TMEM70-related mitochondrial encephalo-cardio-myopathy,en,1,10507,68367,Rare inborn errors of metabolism,en,5015,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22358,363999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363999,en,Non-immune hydrops fetalis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22358,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5014,1048,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048,en,Isolated anencephaly/exencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,5014,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22359,364013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364013,en,Immune hydrops fetalis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22359,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22356,363989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363989,en,Familial benign flecked retina,en,1,12984,97966,Rare ophthalmic disorder,en,22356,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22357,363992,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992,en,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22357,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22354,363976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363976,en,Giant cell tumor of bone,en,1,19592,250908,Rare neoplastic disease,en,22354,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22355,363981,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363981,en,Charcot-Marie-Tooth disease type 4B3,en,1,13024,98006,Rare neurologic disease,en,22355,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22352,363969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363969,en,Autosomal recessive cerebral atrophy,en,1,13024,98006,Rare neurologic disease,en,22352,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22353,363972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972,en,Noonan syndrome-like disorder with juvenile myelomonocytic leukemia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22353,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22351,363965,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965,en,Koolen-De Vries syndrome due to a point mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22351,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22350,363958,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958,en,17q21.31 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22350,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22348,363746,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363746,en,Balint syndrome,en,1,13024,98006,Rare neurologic disease,en,22348,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22347,363741,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741,en,Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22347,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22346,363727,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363727,en,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,en,1,13010,97992,Rare hematologic disease,en,22346,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22345,363722,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363722,en,Alexander disease type II,en,1,13024,98006,Rare neurologic disease,en,22345,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22344,363717,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363717,en,Alexander disease type I,en,1,13024,98006,Rare neurologic disease,en,22344,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22343,363710,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363710,en,Spinocerebellar ataxia type 37,en,1,13024,98006,Rare neurologic disease,en,22343,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22342,363705,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705,en,Craniofaciofrontodigital syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22342,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22341,363700,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700,en,Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22341,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22340,363694,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694,en,Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,22340,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22339,363686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363686,en,Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22339,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22338,363680,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363680,en,2p13.2 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22338,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22337,363677,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363677,en,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,en,1,13024,98006,Rare neurologic disease,en,22337,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22382,364577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577,en,Intellectual disability-brachydactyly-Pierre Robin syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22382,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22369,364198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364198,en,Bipartite talus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22369,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22298,363417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417,en,Temtamy preaxial brachydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22298,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22296,363409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363409,en,Fetal akinesia-cerebral and retinal hemorrhage syndrome,en,1,13024,98006,Rare neurologic disease,en,22296,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22297,363412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363412,en,Hypomyelination with brain stem and spinal cord involvement and leg spasticity,en,1,13024,98006,Rare neurologic disease,en,22297,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22302,363429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429,en,Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome,en,1,13024,98006,Rare neurologic disease,en,22302,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22303,363432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432,en,Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,en,1,13024,98006,Rare neurologic disease,en,22303,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22301,363424,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424,en,Multiple mitochondrial dysfunctions syndrome type 3,en,1,13024,98006,Rare neurologic disease,en,22301,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22292,363396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396,en,High myopia-sensorineural deafness syndrome,en,1,13054,98036,Rare otorhinolaryngologic disease,en,22292,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22293,363400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363400,en,Severe neurodegenerative syndrome with lipodystrophy,en,1,13024,98006,Rare neurologic disease,en,22293,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22328,363618,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363618,en,LMNA-related cardiocutaneous progeria syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22328,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22329,363623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623,en,GMPPB-related limb-girdle muscular dystrophy R19,en,1,13024,98006,Rare neurologic disease,en,22329,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22331,363649,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649,en,Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,en,1,11896,89826,Rare skin disease,en,22331,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22332,363654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363654,en,X-linked parkinsonism-spasticity syndrome,en,1,13024,98006,Rare neurologic disease,en,22332,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22333,363659,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363659,en,20q11.2 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22333,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22334,363665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363665,en,Acroosteolysis-keloid-like lesions-premature aging syndrome,en,1,11896,89826,Rare skin disease,en,22334,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22320,363540,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363540,en,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,en,1,13024,98006,Rare neurologic disease,en,22320,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22322,363549,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363549,en,Acute encephalopathy with biphasic seizures and late reduced diffusion,en,1,13024,98006,Rare neurologic disease,en,22322,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22323,363558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363558,en,New-onset refractory status epilepticus,en,1,13024,98006,Rare neurologic disease,en,22323,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22327,363611,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363611,en,CTCF-related neurodevelopmental disorder,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22327,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22312,363494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494,en,Non-seminomatous germ cell tumor of testis,en,1,19592,250908,Rare neoplastic disease,en,22312,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22317,363523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523,en,Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22317,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22319,363534,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534,en,"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form",en,1,10507,68367,Rare inborn errors of metabolism,en,22319,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22318,363528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528,en,Intellectual disability-strabismus syndrome,en,1,13024,98006,Rare neurologic disease,en,22318,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22305,363444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363444,en,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22305,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22307,363454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363454,en,BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,en,1,13024,98006,Rare neurologic disease,en,22307,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22306,363447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363447,en,Autosomal dominant childhood-onset proximal spinal muscular atrophy,en,1,13024,98006,Rare neurologic disease,en,22306,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22309,363478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363478,en,Paratesticular adenocarcinoma,en,1,19592,250908,Rare neoplastic disease,en,22309,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22311,363489,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363489,en,Sex cord-stromal tumor of testis,en,1,19592,250908,Rare neoplastic disease,en,22311,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22310,363483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363483,en,Testicular teratoma,en,1,19592,250908,Rare neoplastic disease,en,22310,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22212,357175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357175,en,Short ulna-dysmorphism-hypotonia-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22212,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22220,357329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329,en,Combined immunodeficiency due to IL21R deficiency,en,1,13022,98004,Rare immune disease,en,22220,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22222,357332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357332,en,Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22222,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22216,357220,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357220,en,Primary essential cutis verticis gyrata,en,1,11896,89826,Rare skin disease,en,22216,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22217,357225,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357225,en,Primary non-essential cutis verticis gyrata,en,1,11896,89826,Rare skin disease,en,22217,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22219,357237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237,en,Severe combined immunodeficiency due to CARD11 deficiency,en,1,13022,98004,Rare immune disease,en,22219,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22190,356978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978,en,"D,L-2-hydroxyglutaric aciduria",en,1,10507,68367,Rare inborn errors of metabolism,en,22190,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22188,356947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356947,en,3q26q27 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22188,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22189,356961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961,en,SLC35A2-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,22189,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22195,357008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008,en,Hemolytic uremic syndrome with DGKE deficiency,en,1,13010,97992,Rare hematologic disease,en,22195,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22194,357001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357001,en,19p13.13 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22194,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22193,356996,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356996,en,ANK3-related intellectual disability-sleep disturbance syndrome,en,1,13024,98006,Rare neurologic disease,en,22193,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22199,357043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357043,en,Amyotrophic lateral sclerosis type 4,en,1,13024,98006,Rare neurologic disease,en,22199,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22198,357034,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357034,en,Non-hereditary retinoblastoma,en,1,19592,250908,Rare neoplastic disease,en,22198,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22197,357027,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027,en,Hereditary retinoblastoma,en,1,19592,250908,Rare neoplastic disease,en,22197,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22203,357074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074,en,"Autosomal recessive cutis laxa type 2, classic type",en,1,11896,89826,Rare skin disease,en,22203,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22202,357064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064,en,Autosomal recessive cutis laxa type 2B,en,1,11896,89826,Rare skin disease,en,22202,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22201,357058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058,en,Autosomal recessive cutis laxa type 2A,en,1,11896,89826,Rare skin disease,en,22201,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22207,357158,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158,en,Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22207,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22206,357154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357154,en,Oral submucous fibrosis,en,1,10468,68329,Rare maxillo-facial surgical disease,en,22206,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22205,357131,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357131,en,Venous thoracic outlet syndrome,en,1,12980,97962,Rare surgical thoracic disease,en,22205,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22204,357107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357107,en,Arterial thoracic outlet syndrome,en,1,12980,97962,Rare surgical thoracic disease,en,22204,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22093,352654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352654,en,Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,en,1,13024,98006,Rare neurologic disease,en,22093,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22095,352662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352662,en,Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,22095,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22094,352657,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352657,en,Hereditary benign intraepithelial dyskeratosis,en,1,12984,97966,Rare ophthalmic disorder,en,22094,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22089,352641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641,en,Autosomal recessive cerebellar ataxia with late-onset spasticity,en,1,13024,98006,Rare neurologic disease,en,22089,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22088,352636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352636,en,Phalangeal microgeodic syndrome,en,1,12333,93419,Rare bone disease,en,22088,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22091,352649,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649,en,Brain dopamine-serotonin vesicular transport disease,en,1,10507,68367,Rare inborn errors of metabolism,en,22091,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22084,352596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352596,en,Progressive myoclonic epilepsy with dystonia,en,1,13024,98006,Rare neurologic disease,en,22084,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22087,352629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352629,en,16q24.1 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22087,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22081,352577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352577,en,Bainbridge-Ropers syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22081,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22083,352587,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587,en,Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,en,1,13024,98006,Rare neurologic disease,en,22083,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22082,352582,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352582,en,Familial infantile myoclonic epilepsy,en,1,13024,98006,Rare neurologic disease,en,22082,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22109,352731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731,en,Oculocutaneous albinism type 1,en,1,11896,89826,Rare skin disease,en,22109,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22110,352734,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734,en,Minimal pigment oculocutaneous albinism type 1,en,1,11896,89826,Rare skin disease,en,22110,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22111,352737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737,en,Temperature-sensitive oculocutaneous albinism type 1,en,1,11896,89826,Rare skin disease,en,22111,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22104,352709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709,en,CLN13 disease,en,1,13024,98006,Rare neurologic disease,en,22104,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22105,352712,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352712,en,Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22105,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22106,352718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718,en,Progressive retinal dystrophy due to retinol transport defect,en,1,12984,97966,Rare ophthalmic disorder,en,22106,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22107,352723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352723,en,Attenuated Chdiak-Higashi syndrome,en,1,13024,98006,Rare neurologic disease,en,22107,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22096,352665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665,en,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22096,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22097,352670,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352670,en,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,en,1,13024,98006,Rare neurologic disease,en,22097,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22098,352675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675,en,X-linked Charcot-Marie-Tooth disease type 6,en,1,13024,98006,Rare neurologic disease,en,22098,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22099,352682,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682,en,Cobblestone lissencephaly without muscular or ocular involvement,en,1,13024,98006,Rare neurologic disease,en,22099,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22127,353277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277,en,Rubinstein-Taybi syndrome due to CREBBP mutations,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22127,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22126,353253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353253,en,Burning mouth syndrome,en,1,13024,98006,Rare neurologic disease,en,22126,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22120,353220,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353220,en,Familial primary localized cutaneous amyloidosis,en,1,11896,89826,Rare skin disease,en,22120,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22119,353217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353217,en,Epileptic encephalopathy with global cerebral demyelination,en,1,10507,68367,Rare inborn errors of metabolism,en,22119,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22117,352763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352763,en,Scleredema,en,1,11896,89826,Rare skin disease,en,22117,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22113,352745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745,en,Oculocutaneous albinism type 7,en,1,11896,89826,Rare skin disease,en,22113,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22142,353356,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353356,en,Vasoproliferative tumor of the retina,en,1,12984,97966,Rare ophthalmic disorder,en,22142,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22140,353344,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353344,en,Idiopathic macular telangiectasia type 1,en,1,12984,97966,Rare ophthalmic disorder,en,22140,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22141,353351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353351,en,Idiopathic macular telangiectasia type 3,en,1,12984,97966,Rare ophthalmic disorder,en,22141,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22139,353334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353334,en,Congenital retinal arteriovenous communication,en,1,13046,98028,Rare circulatory system disease,en,22139,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22136,353320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353320,en,"Pyruvate carboxylase deficiency, benign type",en,1,10507,68367,Rare inborn errors of metabolism,en,22136,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22137,353327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327,en,Congenital myasthenic syndromes with glycosylation defect,en,1,13024,98006,Rare neurologic disease,en,22137,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22134,353308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353308,en,"Pyruvate carboxylase deficiency, infantile type",en,1,10507,68367,Rare inborn errors of metabolism,en,22134,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22135,353314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353314,en,"Pyruvate carboxylase deficiency, severe neonatal type",en,1,10507,68367,Rare inborn errors of metabolism,en,22135,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22133,353298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298,en,Roifman syndrome,en,1,12333,93419,Rare bone disease,en,22133,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22128,353281,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281,en,Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22128,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22129,353284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284,en,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22129,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22058,352403,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403,en,Spectrin-associated autosomal recessive cerebellar ataxia,en,1,13024,98006,Rare neurologic disease,en,22058,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22057,352333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333,en,Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,en,1,11896,89826,Rare skin disease,en,22057,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22056,352328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328,en,MEGDEL syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,22056,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22063,352447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447,en,Progressive external ophthalmoplegia-myopathy-emaciation syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,22063,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22075,352530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530,en,Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22075,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22078,352563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563,en,Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,en,1,12948,97929,Rare cardiac disease,en,22078,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22076,352540,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352540,en,Oncogenic osteomalacia,en,1,12333,93419,Rare bone disease,en,22076,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22066,352479,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479,en,ISPD-related limb-girdle muscular dystrophy R20,en,1,13024,98006,Rare neurologic disease,en,22066,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22065,352470,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352470,en,DNA2-related mitochondrial DNA deletion syndrome,en,1,13024,98006,Rare neurologic disease,en,22065,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22069,352490,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352490,en,Autism spectrum disorder due to AUTS2 deficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22069,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20908,294415,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415,en,Renal-hepatic-pancreatic dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20908,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20909,294422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294422,en,Chronic intestinal failure,en,1,12954,97935,Rare gastroenterologic disease,en,20909,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20900,293987,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293987,en,Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome,en,1,12996,97978,Rare endocrine disease,en,20900,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20901,294016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016,en,Microcephaly-capillary malformation syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20901,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20902,294023,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023,en,Neonatal inflammatory skin and bowel disease,en,1,12954,97935,Rare gastroenterologic disease,en,20902,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20903,294026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294026,en,Syndactyly-nystagmus syndrome due to 2q31.1 microduplication,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20903,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20896,293964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964,en,Hypoinsulinemic hypoglycemia and body hemihypertrophy,en,1,12996,97978,Rare endocrine disease,en,20896,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20897,293967,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967,en,Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20897,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20898,293978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978,en,Deficiency in anterior pituitary function-variable immunodeficiency syndrome,en,1,12996,97978,Rare endocrine disease,en,20898,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20895,293958,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293958,en,Hypertelorism-preauricular sinus-punctual pits-deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20895,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20894,293955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293955,en,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,20894,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20893,293948,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948,en,1p21.3 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20893,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20892,293939,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293939,en,Distal Xq28 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20892,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20891,293936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293936,en,EDICT syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,20891,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20889,293925,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925,en,Lethal occipital encephalocele-skeletal dysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20889,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20888,293910,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293910,en,"Familial isolated arrhythmogenic ventricular dysplasia, right dominant form",en,1,12948,97929,Rare cardiac disease,en,20888,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20887,293899,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293899,en,"Familial isolated arrhythmogenic ventricular dysplasia, biventricular form",en,1,12948,97929,Rare cardiac disease,en,20887,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20886,293888,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293888,en,"Familial isolated arrhythmogenic ventricular dysplasia, left dominant form",en,1,12948,97929,Rare cardiac disease,en,20886,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20883,293864,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864,en,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20883,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20879,293843,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843,en,3MC syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20879,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20874,293822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293822,en,MITF-related melanoma and renal cell carcinoma predisposition syndrome,en,1,19592,250908,Rare neoplastic disease,en,20874,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20875,293825,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293825,en,Congenital dyserythropoietic anemia type IV,en,1,13010,97992,Rare hematologic disease,en,20875,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20872,293812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293812,en,Fixed drug eruption,en,1,11896,89826,Rare skin disease,en,20872,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20871,293807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293807,en,Ketamine-induced biliary dilatation,en,1,15031,108999,Rare disorder due to toxic effects,en,20871,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20869,293725,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725,en,"Blepharophimosis-intellectual disability syndrome, Verloes type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,20869,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20867,293707,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707,en,"Blepharophimosis-intellectual disability syndrome, MKB type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,20867,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20864,293633,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633,en,PYCR1-related De Barsy syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,20864,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20970,295044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295044,en,Macrodactyly of fingers,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20970,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20971,295047,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295047,en,Macrodactyly of toes,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20971,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20972,295049,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295049,en,Upper limb hypertrophy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20972,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20973,295051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295051,en,Lower limb hypertrophy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20973,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20960,295022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295022,en,Congenital pseudoarthrosis of the fibula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20960,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20961,295024,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295024,en,Congenital pseudoarthrosis of the radius,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20961,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20962,295026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295026,en,Congenital pseudoarthrosis of the ulna,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20962,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20963,295028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295028,en,Tibio-fibular synostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20963,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20964,295030,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295030,en,True congenital shoulder dislocation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20964,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20965,295032,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295032,en,Isolated congenital radial head dislocation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20965,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20966,295034,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295034,en,Congenital knee dislocation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20966,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20967,295036,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295036,en,Congenital patella dislocation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20967,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20955,295012,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295012,en,Syndactyly type 6,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20955,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20959,295020,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295020,en,Congenital pseudoarthrosis of the femur,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20959,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20958,295018,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295018,en,Congenital pseudoarthrosis of the tibia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20958,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20957,295016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295016,en,Camptodactyly of fingers,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20957,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20956,295014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295014,en,Familial isolated clinodactyly of fingers,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20956,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20951,295004,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004,en,Central polydactyly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20951,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20950,295002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295002,en,Hyperphalangy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20950,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20949,295000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000,en,Constriction rings syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20949,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20938,294977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294977,en,Congenital absence of thigh and lower leg with foot present,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20938,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20939,294979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979,en,Congenital absence of both forearm and hand,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20939,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20936,294973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294973,en,Humeral agenesis/hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20936,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20937,294975,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294975,en,Congenital absence of upper arm and forearm with hand present,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20937,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20942,294986,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294986,en,Apodia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20942,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20943,294988,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294988,en,Congenital hypoplasia of thumb,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20943,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20940,294981,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294981,en,Congenital absence of both lower leg and foot,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20940,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20941,294983,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294983,en,Acheiria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20941,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20934,294969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294969,en,Amelia of lower limb,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20934,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20935,294971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294971,en,Tetra-amelia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20935,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20933,294967,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294967,en,Amelia of upper limb,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20933,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20772,289891,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289891,en,Hypermethioninemia due to glycine N-methyltransferase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,20772,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20768,289863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863,en,Atypical glycine encephalopathy,en,1,13024,98006,Rare neurologic disease,en,20768,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20771,289877,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289877,en,Transient hyperammonemia of the newborn,en,1,10507,68367,Rare inborn errors of metabolism,en,20771,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20777,289916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916,en,Vitamin B12-unresponsive methylmalonic acidemia type mut0,en,1,10507,68367,Rare inborn errors of metabolism,en,20777,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20758,289682,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289682,en,Lymphoepithelial-like carcinoma,en,1,19592,250908,Rare neoplastic disease,en,20758,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20759,289685,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289685,en,Myopericytoma,en,1,19592,250908,Rare neoplastic disease,en,20759,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20756,289661,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289661,en,Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly,en,1,19592,250908,Rare neoplastic disease,en,20756,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20757,289666,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289666,en,Plasmablastic lymphoma,en,1,19592,250908,Rare neoplastic disease,en,20757,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20766,289857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857,en,Neonatal glycine encephalopathy,en,1,13024,98006,Rare neurologic disease,en,20766,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20767,289860,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860,en,Infantile glycine encephalopathy,en,1,13024,98006,Rare neurologic disease,en,20767,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20764,289846,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846,en,Glutathione synthetase deficiency with 5-oxoprolinuria,en,1,13010,97992,Rare hematologic disease,en,20764,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20765,289849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849,en,Glutathione synthetase deficiency without 5-oxoprolinuria,en,1,13010,97992,Rare hematologic disease,en,20765,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20741,289560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560,en,Mitochondrial membrane protein-associated neurodegeneration,en,1,13024,98006,Rare neurologic disease,en,20741,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20740,289553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553,en,Dysmorphism-conductive hearing loss-heart defect syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20740,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20739,289548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289548,en,Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,en,1,12996,97978,Rare endocrine disease,en,20739,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20737,289539,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289539,en,BAP1-related tumor predisposition syndrome,en,1,19592,250908,Rare neoplastic disease,en,20737,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20749,289601,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289601,en,Hereditary arterial and articular multiple calcification syndrome,en,1,13046,98028,Rare circulatory system disease,en,20749,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20748,289596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289596,en,Juvenile nasopharyngeal angiofibroma,en,1,13054,98036,Rare otorhinolaryngologic disease,en,20748,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20746,289586,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586,en,Exfoliative ichthyosis,en,1,11896,89826,Rare skin disease,en,20746,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20855,293375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293375,en,Grayson-Wilbrandt corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,20855,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20856,293381,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293381,en,Epithelial recurrent erosion dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,20856,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20857,293462,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293462,en,Pre-Descemet corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,20857,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20862,293603,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293603,en,Congenital hereditary endothelial dystrophy type II,en,1,12984,97966,Rare ophthalmic disorder,en,20862,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20863,293621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293621,en,X-linked endothelial corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,20863,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5536,811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811,en,Shwachman-Diamond syndrome,en,1,13010,97992,Rare hematologic disease,en,5536,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20837,293150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150,en,Familial clubfoot due to PITX1 point mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20837,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5541,741,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=741,en,Familial mitral valve prolapse,en,1,12469,93890,Rare developmental defect during embryogenesis,en,5541,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20836,293144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144,en,Familial clubfoot due to 5q31 microdeletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20836,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20839,293168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293168,en,Infantile-onset ascending hereditary spastic paralysis,en,1,13024,98006,Rare neurologic disease,en,20839,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20838,293165,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165,en,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,en,1,11896,89826,Rare skin disease,en,20838,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5543,428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428,en,Autosomal dominant hypocalcemia,en,1,12996,97978,Rare endocrine disease,en,5543,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20841,293181,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181,en,Malignant migrating focal seizures of infancy,en,1,13024,98006,Rare neurologic disease,en,20841,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5544,2298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2298,en,Insulin-resistance syndrome type B,en,1,12996,97978,Rare endocrine disease,en,5544,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20840,293173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293173,en,Acute generalized exanthematous pustulosis,en,1,11896,89826,Rare skin disease,en,20840,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20843,293199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293199,en,Pleomorphic rhabdomyosarcoma,en,1,19592,250908,Rare neoplastic disease,en,20843,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5546,393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393,en,"46,XX testicular difference of sex development",en,1,12469,93890,Rare developmental defect during embryogenesis,en,5546,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20844,293202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293202,en,Epithelioid sarcoma,en,1,19592,250908,Rare neoplastic disease,en,20844,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20847,293284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284,en,Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria,en,1,10507,68367,Rare inborn errors of metabolism,en,20847,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20846,293208,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293208,en,Celiac artery compression syndrome,en,1,17578,165711,Rare abdominal surgical disease,en,20846,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5522,2459,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2459,en,Mansonelliasis,en,1,10557,68416,Rare infectious disease,en,5522,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5521,2404,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2404,en,Loiasis,en,1,10557,68416,Rare infectious disease,en,5521,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5520,2394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394,en,Pyruvate dehydrogenase E3 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,5520,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5527,2356,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356,en,Arachnoid cyst,en,1,12469,93890,Rare developmental defect during embryogenesis,en,5527,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5525,829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=829,en,Adult-onset Still disease,en,1,13041,98023,Rare systemic or rheumatologic disease,en,5525,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5530,3096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3096,en,Reye syndrome,en,1,13024,98006,Rare neurologic disease,en,5530,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5529,1929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1929,en,Rasmussen subacute encephalitis,en,1,13024,98006,Rare neurologic disease,en,5529,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5528,1183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1183,en,Opsoclonus-myoclonus syndrome,en,1,13024,98006,Rare neurologic disease,en,5528,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5535,2688,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2688,en,Adult idiopathic neutropenia,en,1,13022,98004,Rare immune disease,en,5535,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5534,2686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2686,en,Cyclic neutropenia,en,1,13022,98004,Rare immune disease,en,5534,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5533,890,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=890,en,Hepatic veno-occlusive disease,en,1,10772,57146,Rare hepatic disease,en,5533,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5518,231,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231,en,Dracunculiasis,en,1,10557,68416,Rare infectious disease,en,5518,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5519,2035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2035,en,Lymphatic filariasis,en,1,10557,68416,Rare infectious disease,en,5519,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,5517,80,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=80,en,Antiphospholipid syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,5517,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20612,284448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284448,en,CLIPPERS,en,1,13024,98006,Rare neurologic disease,en,20612,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20613,284454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284454,en,Acute zonal occult outer retinopathy,en,1,12984,97966,Rare ophthalmic disorder,en,20613,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20614,284460,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284460,en,Acute annular outer retinopathy,en,1,12984,97966,Rare ophthalmic disorder,en,20614,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20608,284414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284414,en,"Glycerol kinase deficiency, adult form",en,1,10507,68367,Rare inborn errors of metabolism,en,20608,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20609,284417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417,en,"Phosphoserine aminotransferase deficiency, infantile/juvenile form",en,1,13024,98006,Rare neurologic disease,en,20609,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20610,284426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426,en,Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,20610,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20611,284435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284435,en,Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,20611,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20629,284973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973,en,Marfan syndrome type 2,en,1,13041,98023,Rare systemic or rheumatologic disease,en,20629,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20628,284963,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963,en,Marfan syndrome type 1,en,1,13041,98023,Rare systemic or rheumatologic disease,en,20628,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20631,284984,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284984,en,Aneurysm-osteoarthritis syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,20631,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20630,284979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284979,en,Neonatal Marfan syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,20630,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20714,289362,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289362,en,Non-central nervous system-localized embryonal carcinoma,en,1,19592,250908,Rare neoplastic disease,en,20714,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20715,289365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365,en,Familial vesicoureteral reflux,en,1,14860,101433,Rare urogenital disease,en,20715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20712,289347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289347,en,Infective dermatitis associated with HTLV-1,en,1,10557,68416,Rare infectious disease,en,20712,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20713,289356,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289356,en,Primary non-gestational choriocarcinoma of ovary,en,1,19592,250908,Rare neoplastic disease,en,20713,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20718,289377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377,en,Early-onset myopathy with fatal cardiomyopathy,en,1,13024,98006,Rare neurologic disease,en,20718,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20719,289380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380,en,Myosclerosis,en,1,13024,98006,Rare neurologic disease,en,20719,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20707,289290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290,en,Hypermethioninemia encephalopathy due to adenosine kinase deficiency,en,1,13024,98006,Rare neurologic disease,en,20707,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20705,289266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266,en,Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20705,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20711,289326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289326,en,Tropical spastic paraparesis,en,1,10557,68416,Rare infectious disease,en,20711,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20709,289307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307,en,Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,20709,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20731,289504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504,en,Combined malonic and methylmalonic acidemia,en,1,10507,68367,Rare inborn errors of metabolism,en,20731,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20730,289499,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289499,en,Congenital cataract microcornea with corneal opacity,en,1,12984,97966,Rare ophthalmic disorder,en,20730,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20728,289494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289494,en,4H leukodystrophy,en,1,13024,98006,Rare neurologic disease,en,20728,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20734,289522,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522,en,Microtriplication 11q24.1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20734,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20733,289513,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513,en,12q15q21.1 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20733,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20723,289465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289465,en,Isolated congenital adermatoglyphia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20723,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20721,289390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289390,en,Primary Sjgren syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,20721,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20720,289385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289385,en,Malignancy diagnosed during pregnancy,en,1,12845,96344,Rare gynecologic or obstetric disease,en,20720,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20726,289483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289483,en,Intellectual disability-alacrima-achalasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20726,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20725,289478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289478,en,PASH syndrome,en,1,11896,89826,Rare skin disease,en,20725,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20703,289176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176,en,Autosomal recessive hypophosphatemic rickets,en,1,12333,93419,Rare bone disease,en,20703,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20702,289157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157,en,Hypocalcemic vitamin D-dependent rickets,en,1,12333,93419,Rare bone disease,en,20702,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20518,280921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280921,en,Idiopathic panuveitis,en,1,12984,97966,Rare ophthalmic disorder,en,20518,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20517,280917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280917,en,Idiopathic posterior uveitis,en,1,12984,97966,Rare ophthalmic disorder,en,20517,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20525,281090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281090,en,Syndromic recessive X-linked ichthyosis,en,1,11896,89826,Rare skin disease,en,20525,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20532,281190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281190,en,Congenital reticular ichthyosiform erythroderma,en,1,11896,89826,Rare skin disease,en,20532,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20533,281201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201,en,Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,en,1,11896,89826,Rare skin disease,en,20533,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20530,281139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281139,en,Annular epidermolytic ichthyosis,en,1,11896,89826,Rare skin disease,en,20530,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20528,281122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122,en,Self-improving collodion baby,en,1,11896,89826,Rare skin disease,en,20528,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20529,281127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127,en,Acral self-healing collodion baby,en,1,11896,89826,Rare skin disease,en,20529,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20484,280628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280628,en,Familial progressive hyper- and hypopigmentation,en,1,11896,89826,Rare skin disease,en,20484,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20486,280633,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633,en,Multiple congenital anomalies-hypotonia-seizures syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20486,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20481,280615,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615,en,Hemoglobinopathy Toms River,en,1,13010,97992,Rare hematologic disease,en,20481,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20480,280598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280598,en,Hereditary sensorimotor neuropathy with hyperelastic skin,en,1,13024,98006,Rare neurologic disease,en,20480,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20482,280620,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280620,en,Progressive myoclonic epilepsy type 6,en,1,13024,98006,Rare neurologic disease,en,20482,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20495,280671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671,en,Megaconial congenital muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,20495,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20488,280640,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640,en,Occipital pachygyria and polymicrogyria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20488,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20491,280654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280654,en,Autosomal recessive nail dysplasia,en,1,11896,89826,Rare skin disease,en,20491,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20500,280779,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280779,en,Cutaneous collagenous vasculopathy,en,1,11896,89826,Rare skin disease,en,20500,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20501,280785,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280785,en,Bullous diffuse cutaneous mastocytosis,en,1,11896,89826,Rare skin disease,en,20501,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20502,280794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280794,en,Pseudoxanthomatous diffuse cutaneous mastocytosis,en,1,11896,89826,Rare skin disease,en,20502,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20503,280802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280802,en,Intralobar congenital pulmonary sequestration,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20503,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20497,280679,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679,en,Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20497,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20498,280763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280763,en,Severe intellectual disability and progressive spastic paraplegia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20498,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20499,280774,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280774,en,Generalized essential telangiectasia,en,1,11896,89826,Rare skin disease,en,20499,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20508,280840,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280840,en,Congenital pulmonary airway malformation type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20508,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20509,280847,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280847,en,Congenital pulmonary airway malformation type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20509,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20510,280854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280854,en,Congenital pulmonary airway malformation type 4,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20510,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20504,280811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280811,en,Extralobar congenital pulmonary sequestration,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20504,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20505,280821,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280821,en,Communicating congenital bronchopulmonary-foregut malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20505,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20506,280827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280827,en,Congenital pulmonary airway malformation type 0,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20506,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20507,280832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280832,en,Congenital pulmonary airway malformation type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20507,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20578,284149,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149,en,Craniosynostosis-dental anomalies,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20578,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20576,284139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139,en,"Larsen-like syndrome, B3GAT3 type",en,1,12333,93419,Rare bone disease,en,20576,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20583,284180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180,en,Xp22.13p22.2 duplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20583,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20582,284169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169,en,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20582,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20581,284160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284160,en,8q21.11 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20581,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20587,284247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247,en,Familial retinal arterial macroaneurysm,en,1,12984,97966,Rare ophthalmic disorder,en,20587,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20585,284232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284232,en,Autosomal dominant Charcot-Marie-Tooth disease type 2O,en,1,13024,98006,Rare neurologic disease,en,20585,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20584,284227,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284227,en,TEMPI syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,20584,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20590,284271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271,en,Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,en,1,13024,98006,Rare neurologic disease,en,20590,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20595,284324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324,en,Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,en,1,13024,98006,Rare neurologic disease,en,20595,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20592,284282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282,en,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,en,1,13024,98006,Rare neurologic disease,en,20592,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20593,284289,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289,en,Adult-onset autosomal recessive cerebellar ataxia,en,1,13024,98006,Rare neurologic disease,en,20593,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20598,284343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284343,en,DICER1 tumor-predisposition syndrome,en,1,19592,250908,Rare neoplastic disease,en,20598,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20596,284332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284332,en,Infantile-onset autosomal recessive nonprogressive cerebellar ataxia,en,1,13024,98006,Rare neurologic disease,en,20596,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20597,284339,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339,en,Pontocerebellar hypoplasia type 7,en,1,12469,93890,Rare developmental defect during embryogenesis,en,20597,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20603,284388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284388,en,Reversible cerebral vasoconstriction syndrome,en,1,13024,98006,Rare neurologic disease,en,20603,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20601,284362,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284362,en,Fetal lung interstitial tumor,en,1,19592,250908,Rare neoplastic disease,en,20601,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20607,284411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284411,en,"Glycerol kinase deficiency, juvenile form",en,1,10507,68367,Rare inborn errors of metabolism,en,20607,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20604,284395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284395,en,Well-differentiated fetal adenocarcinoma of the lung,en,1,19592,250908,Rare neoplastic disease,en,20604,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20605,284400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284400,en,Small cell carcinoma of the bladder,en,1,19592,250908,Rare neoplastic disease,en,20605,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,20556,282166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282166,en,Inherited Creutzfeldt-Jakob disease,en,1,13024,98006,Rare neurologic disease,en,20556,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21405,309854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854,en,Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,21405,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21390,309803,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803,en,Rhizomelic chondrodysplasia punctata type 3,en,1,12333,93419,Rare bone disease,en,21390,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21388,309789,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789,en,Rhizomelic chondrodysplasia punctata type 1,en,1,12333,93419,Rare bone disease,en,21388,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21389,309796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796,en,Rhizomelic chondrodysplasia punctata type 2,en,1,12333,93419,Rare bone disease,en,21389,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21471,314029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314029,en,High bone mass osteogenesis imperfecta,en,1,12333,93419,Rare bone disease,en,21471,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21470,314022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314022,en,Gastric adenocarcinoma and proximal polyposis of the stomach,en,1,19592,250908,Rare neoplastic disease,en,21470,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21468,314017,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314017,en,Idiopathic linear interstitial keratitis,en,1,12984,97966,Rare ophthalmic disorder,en,21468,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21467,314002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314002,en,Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21467,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21466,313947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313947,en,2q23.1 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21466,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21465,313936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313936,en,PENS syndrome,en,1,11896,89826,Rare skin disease,en,21465,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21464,313920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313920,en,Epstein-Barr virus-associated gastric carcinoma,en,1,19592,250908,Rare neoplastic disease,en,21464,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21462,313906,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313906,en,Congenital pancreatic cyst,en,1,12954,97935,Rare gastroenterologic disease,en,21462,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21461,313892,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313892,en,Developmental and speech delay due to SOX5 deficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21461,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21460,313884,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884,en,12p12.1 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21460,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21459,313855,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855,en,FGFR2-related bent bone dysplasia,en,1,12333,93419,Rare bone disease,en,21459,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21458,313850,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850,en,Infantile cerebellar-retinal degeneration,en,1,13024,98006,Rare neurologic disease,en,21458,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21457,313846,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313846,en,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,en,1,11896,89826,Rare skin disease,en,21457,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21456,313838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838,en,Coats plus syndrome,en,1,13024,98006,Rare neurologic disease,en,21456,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21452,313800,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313800,en,Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,21452,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21453,313808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313808,en,Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia,en,1,13024,98006,Rare neurologic disease,en,21453,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21450,313781,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313781,en,20p13 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21450,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21451,313795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795,en,Jawad syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21451,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21449,313772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772,en,Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,en,1,13024,98006,Rare neurologic disease,en,21449,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21501,314603,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603,en,Autosomal recessive spastic ataxia with leukoencephalopathy,en,1,13024,98006,Rare neurologic disease,en,21501,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21500,314597,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597,en,Chudley-McCullough syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21500,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21502,314613,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314613,en,Growing teratoma syndrome,en,1,19592,250908,Rare neoplastic disease,en,21502,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21497,314575,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314575,en,Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21497,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21496,314572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314572,en,Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome,en,1,13024,98006,Rare neurologic disease,en,21496,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21499,314588,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588,en,Distal triplication 15q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21499,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21498,314585,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585,en,15q overgrowth syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21498,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21492,314485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314485,en,Young adult-onset distal hereditary motor neuropathy,en,1,13024,98006,Rare neurologic disease,en,21492,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21495,314566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314566,en,Primary progressive apraxia of speech,en,1,13024,98006,Rare neurologic disease,en,21495,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21494,314555,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555,en,Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21494,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21489,314466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314466,en,Atypical Meigs syndrome,en,1,19592,250908,Rare neoplastic disease,en,21489,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21488,314459,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314459,en,Pseudo-Meigs syndrome,en,1,19592,250908,Rare neoplastic disease,en,21488,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21491,314478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314478,en,Ovarian fibrothecoma,en,1,19592,250908,Rare neoplastic disease,en,21491,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21490,314473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314473,en,Ovarian fibroma,en,1,19592,250908,Rare neoplastic disease,en,21490,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21484,314422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314422,en,Ameloblastic carcinoma,en,1,19592,250908,Rare neoplastic disease,en,21484,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21486,314432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314432,en,Spigelian hernia-cryptorchidism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21486,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21487,314451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314451,en,Meigs syndrome,en,1,19592,250908,Rare neoplastic disease,en,21487,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21480,314394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314394,en,Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,en,1,12333,93419,Rare bone disease,en,21480,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21481,314399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314399,en,Autosomal dominant aplasia and myelodysplasia,en,1,13010,97992,Rare hematologic disease,en,21481,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21482,314404,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404,en,Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,en,1,13024,98006,Rare neurologic disease,en,21482,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21483,314419,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314419,en,Ameloblastoma,en,1,19592,250908,Rare neoplastic disease,en,21483,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21476,314373,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373,en,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,en,1,12954,97935,Rare gastroenterologic disease,en,21476,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21477,314376,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314376,en,Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,en,1,12954,97935,Rare gastroenterologic disease,en,21477,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21478,314381,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314381,en,Hereditary sensory and autonomic neuropathy type 6,en,1,13024,98006,Rare neurologic disease,en,21478,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21479,314389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314389,en,Xq12-q13.3 duplication syndrome,en,1,13024,98006,Rare neurologic disease,en,21479,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21472,314034,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314034,en,7p22.1 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21472,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21474,314041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314041,en,Marfanoid habitus-inguinal hernia-advanced bone age syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21474,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21475,314051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314051,en,Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,en,1,13024,98006,Rare neurologic disease,en,21475,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21272,306776,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306776,en,Sporadic hyperekplexia,en,1,13024,98006,Rare neurologic disease,en,21272,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21251,306682,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306682,en,Manganese poisoning,en,1,13024,98006,Rare neurologic disease,en,21251,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21249,306674,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674,en,Kufor-Rakeb syndrome,en,1,13024,98006,Rare neurologic disease,en,21249,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21248,306669,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306669,en,Hemiparkinsonism-hemiatrophy syndrome,en,1,13024,98006,Rare neurologic disease,en,21248,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21253,306692,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306692,en,Cyanide-induced parkinsonism-dystonia,en,1,13024,98006,Rare neurologic disease,en,21253,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21252,306686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306686,en,Delayed encephalopathy due to carbon monoxide poisoning,en,1,13024,98006,Rare neurologic disease,en,21252,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21262,306741,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306741,en,Hemidystonia-hemiatrophy syndrome,en,1,13024,98006,Rare neurologic disease,en,21262,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21261,306734,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306734,en,"Primary dystonia, DYT21 type",en,1,13024,98006,Rare neurologic disease,en,21261,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21260,306731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306731,en,Sydenham chorea,en,1,13024,98006,Rare neurologic disease,en,21260,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21305,308380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380,en,Methylcobalamin deficiency type cblDv1,en,1,10507,68367,Rare inborn errors of metabolism,en,21305,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21306,308386,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386,en,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,en,1,10507,68367,Rare inborn errors of metabolism,en,21306,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21307,308393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393,en,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B,en,1,10507,68367,Rare inborn errors of metabolism,en,21307,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21308,308400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400,en,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,en,1,10507,68367,Rare inborn errors of metabolism,en,21308,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21310,308410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308410,en,Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,21310,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21311,308425,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308425,en,Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,21311,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21283,307766,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766,en,Curly hair-acral keratoderma-caries syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21283,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21289,307936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936,en,Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21289,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21292,308013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308013,en,Focal acral hyperkeratosis,en,1,11896,89826,Rare skin disease,en,21292,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21330,308698,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698,en,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form",en,1,10507,68367,Rare inborn errors of metabolism,en,21330,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21331,308712,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712,en,"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form",en,1,10507,68367,Rare inborn errors of metabolism,en,21331,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21328,308670,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670,en,"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form",en,1,10507,68367,Rare inborn errors of metabolism,en,21328,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21329,308684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684,en,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form",en,1,10507,68367,Rare inborn errors of metabolism,en,21329,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21342,309111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309111,en,Combined pancreatic lipase-colipase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,21342,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21340,309031,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309031,en,Pancreatic triacylglycerol lipase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,21340,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21341,309108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309108,en,Pancreatic colipase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,21341,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21338,309025,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025,en,Mevalonate kinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,21338,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21336,309015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015,en,Familial lipoprotein lipase deficiency,en,1,12996,97978,Rare endocrine disease,en,21336,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21337,309020,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309020,en,Familial apolipoprotein C-II deficiency,en,1,12996,97978,Rare endocrine disease,en,21337,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21319,308487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487,en,Generalized galactose epimerase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,21319,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,6023,178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178,en,Chordoma,en,1,19592,250908,Rare neoplastic disease,en,6023,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21318,308473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473,en,Erythrocyte galactose epimerase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,21318,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,6020,2637,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637,en,Microcephalic osteodysplastic primordial dwarfism type II,en,1,12333,93419,Rare bone disease,en,6020,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,6021,592,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592,en,Macrophagic myofasciitis,en,1,13024,98006,Rare neurologic disease,en,6021,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21312,308442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442,en,"Vitamin B12-responsive methylmalonic acidemia, type cblDv2",en,1,10507,68367,Rare inborn errors of metabolism,en,21312,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21327,308655,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655,en,"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form",en,1,10507,68367,Rare inborn errors of metabolism,en,21327,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21326,308638,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638,en,"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form",en,1,10507,68367,Rare inborn errors of metabolism,en,21326,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21325,308621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621,en,"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form",en,1,10507,68367,Rare inborn errors of metabolism,en,21325,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21321,308552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552,en,"Glycogen storage disease due to acid maltase deficiency, infantile onset",en,1,10507,68367,Rare inborn errors of metabolism,en,21321,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21364,309271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271,en,"Metachromatic leukodystrophy, adult form",en,1,13024,98006,Rare neurologic disease,en,21364,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21366,309282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282,en,"Alpha-mannosidosis, infantile form",en,1,10507,68367,Rare inborn errors of metabolism,en,21366,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21367,309288,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288,en,"Alpha-mannosidosis, adult form",en,1,10507,68367,Rare inborn errors of metabolism,en,21367,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21360,309246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246,en,"GM2 gangliosidosis, AB variant",en,1,10507,68367,Rare inborn errors of metabolism,en,21360,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21361,309252,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309252,en,Atypical Gaucher disease due to saposin C deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,21361,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21362,309256,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256,en,"Metachromatic leukodystrophy, late infantile form",en,1,13024,98006,Rare neurologic disease,en,21362,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21363,309263,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263,en,"Metachromatic leukodystrophy, juvenile form",en,1,13024,98006,Rare neurologic disease,en,21363,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21372,309324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324,en,"Free sialic acid storage disease, infantile form",en,1,10507,68367,Rare inborn errors of metabolism,en,21372,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21373,309331,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331,en,Intermediate severe Salla disease,en,1,10507,68367,Rare inborn errors of metabolism,en,21373,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21374,309334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334,en,Salla disease,en,1,10507,68367,Rare inborn errors of metabolism,en,21374,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21369,309297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297,en,Mucopolysaccharidosis type 4A,en,1,10507,68367,Rare inborn errors of metabolism,en,21369,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21370,309310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310,en,Mucopolysaccharidosis type 4B,en,1,10507,68367,Rare inborn errors of metabolism,en,21370,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21351,309147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309147,en,Hyper-beta-alaninemia,en,1,10507,68367,Rare inborn errors of metabolism,en,21351,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21357,309185,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185,en,"Tay-Sachs disease, B variant, juvenile form",en,1,10507,68367,Rare inborn errors of metabolism,en,21357,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21356,309178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178,en,"Tay-Sachs disease, B variant, infantile form",en,1,10507,68367,Rare inborn errors of metabolism,en,21356,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21359,309239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309239,en,"Tay-Sachs disease, B1 variant",en,1,10507,68367,Rare inborn errors of metabolism,en,21359,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21358,309192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192,en,"Tay-Sachs disease, B variant, adult form",en,1,10507,68367,Rare inborn errors of metabolism,en,21358,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21353,309155,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155,en,"Sandhoff disease, infantile form",en,1,10507,68367,Rare inborn errors of metabolism,en,21353,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21355,309169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169,en,"Sandhoff disease, adult form",en,1,10507,68367,Rare inborn errors of metabolism,en,21355,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21354,309162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162,en,"Sandhoff disease, juvenile form",en,1,10507,68367,Rare inborn errors of metabolism,en,21354,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21128,300547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547,en,Autosomal recessive infantile hypercalcemia,en,1,12996,97978,Rare endocrine disease,en,21128,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21129,300552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300552,en,Follicular cholangitis and pancreatitis,en,1,12954,97935,Rare gastroenterologic disease,en,21129,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21130,300557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300557,en,Carcinoma of the ampulla of Vater,en,1,19592,250908,Rare neoplastic disease,en,21130,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21131,300564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300564,en,Combined pulmonary fibrosis-emphysema syndrome,en,1,12974,97955,Rare respiratory disease,en,21131,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21132,300570,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570,en,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21132,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21133,300573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573,en,Polymicrogyria due to TUBB2B mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21133,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21134,300576,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300576,en,Oligodontia-cancer predisposition syndrome,en,1,13044,98026,Rare odontologic disease,en,21134,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21120,300496,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496,en,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21120,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21121,300501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300501,en,Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,en,1,19592,250908,Rare neoplastic disease,en,21121,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21122,300504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300504,en,Onychocytic matricoma,en,1,19592,250908,Rare neoplastic disease,en,21122,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21123,300512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300512,en,Onychomatricoma,en,1,19592,250908,Rare neoplastic disease,en,21123,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21125,300525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525,en,Pseudohypoaldosteronism type 2D,en,1,12456,93626,Rare renal disease,en,21125,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21126,300530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530,en,Pseudohypoaldosteronism type 2E,en,1,12456,93626,Rare renal disease,en,21126,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21127,300536,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536,en,DDOST-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,21127,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21145,300849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300849,en,Diffuse large B-cell lymphoma of the central nervous system,en,1,19592,250908,Rare neoplastic disease,en,21145,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21147,300865,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865,en,Primary cutaneous anaplastic large cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,21147,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21146,300857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300857,en,T-cell/histiocyte rich large B cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,21146,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21149,300878,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300878,en,Hairy cell leukemia variant,en,1,19592,250908,Rare neoplastic disease,en,21149,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21148,300869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300869,en,Splenic diffuse red pulp small B-cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,21148,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21151,300895,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300895,en,ALK-positive anaplastic large cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,21151,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21150,300888,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300888,en,Diffuse large B-cell lymphoma with chronic inflammation,en,1,19592,250908,Rare neoplastic disease,en,21150,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21137,300605,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300605,en,Juvenile amyotrophic lateral sclerosis,en,1,13024,98006,Rare neurologic disease,en,21137,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21138,300751,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300751,en,Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,en,1,12948,97929,Rare cardiac disease,en,21138,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21152,300903,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300903,en,ALK-negative anaplastic large cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,21152,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21212,306431,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306431,en,Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,en,1,13022,98004,Rare immune disease,en,21212,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21230,306550,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306550,en,FADD-related immunodeficiency,en,1,13022,98004,Rare immune disease,en,21230,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21231,306553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306553,en,Myospherulosis,en,1,10468,68329,Rare maxillo-facial surgical disease,en,21231,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21228,306542,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542,en,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21228,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21229,306547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306547,en,Porencephaly-microcephaly-bilateral congenital cataract syndrome,en,1,13024,98006,Rare neurologic disease,en,21229,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21226,306530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530,en,Congenital hereditary facial paralysis-variable hearing loss syndrome,en,1,10468,68329,Rare maxillo-facial surgical disease,en,21226,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21225,306527,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306527,en,Isolated hereditary congenital facial paralysis,en,1,10468,68329,Rare maxillo-facial surgical disease,en,21225,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21222,306516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306516,en,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis,en,1,12456,93626,Rare renal disease,en,21222,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21221,306511,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511,en,Autosomal recessive spastic paraplegia type 48,en,1,13024,98006,Rare neurologic disease,en,21221,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21219,306504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504,en,Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21219,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21246,306661,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661,en,Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome,en,1,11896,89826,Rare skin disease,en,21246,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21245,306658,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658,en,Familial normophosphatemic tumoral calcinosis,en,1,11896,89826,Rare skin disease,en,21245,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21243,306644,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306644,en,Complication after organ transplantation,en,1,28445,565779,Rare disorder potentially indicated for transplant or complication after transplantation,en,21243,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21239,306617,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306617,en,X-linked complicated spastic paraplegia type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21239,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21236,306577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306577,en,Sodium channelopathy-related small fiber neuropathy,en,1,13024,98006,Rare neurologic disease,en,21236,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21232,306558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558,en,Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,en,1,12996,97978,Rare endocrine disease,en,21232,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21039,295187,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295187,en,Zygodactyly type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21039,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21042,295193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295193,en,Zygodactyly type 4,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21042,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21043,295195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195,en,Synpolydactyly type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21043,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21040,295189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295189,en,Zygodactyly type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21040,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21041,295191,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191,en,Zygodactyly type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21041,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21046,295201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295201,en,"Congenital vertical talus, unilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21046,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21047,295203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295203,en,"Congenital vertical talus, bilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21047,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21044,295197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197,en,Synpolydactyly type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21044,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21045,295199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295199,en,Synpolydactyly type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21045,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21054,295217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295217,en,"Radio-ulnar synostosis, unilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21054,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21055,295219,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295219,en,"Radio-ulnar synostosis, bilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21055,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21052,295213,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295213,en,"Humero-ulnar synostosis, unilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21052,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21053,295215,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295215,en,"Humero-ulnar synostosis, bilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21053,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21061,295232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295232,en,Congenital genu flexum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21061,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21060,295229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295229,en,Congenital genu recurvatum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21060,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21059,295227,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295227,en,"Congenital elbow dislocation, bilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21059,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21058,295225,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295225,en,"Congenital elbow dislocation, unilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21058,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21065,295241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295241,en,"Macrodactyly of fingers, bilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21065,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21064,295239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295239,en,"Macrodactyly of fingers, unilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21064,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21067,295245,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295245,en,"Macrodactyly of toes, bilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21067,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21066,295243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295243,en,"Macrodactyly of toes, unilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,21066,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21100,300179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179,en,Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,en,1,13041,98023,Rare systemic or rheumatologic disease,en,21100,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21110,300319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300319,en,Charcot-Marie-Tooth disease type 2P,en,1,13024,98006,Rare neurologic disease,en,21110,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21111,300324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300324,en,Persistent polyclonal B-cell lymphocytosis,en,1,13010,97992,Rare hematologic disease,en,21111,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21109,300313,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313,en,Congenital cataract-hearing loss-severe developmental delay syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,21109,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21106,300298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298,en,Severe congenital hypochromic anemia with ringed sideroblasts,en,1,13010,97992,Rare hematologic disease,en,21106,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21107,300305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305,en,11p15.4 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,21107,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21104,300284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284,en,Connective tissue disorder due to lysyl hydroxylase-3 deficiency,en,1,13041,98023,Rare systemic or rheumatologic disease,en,21104,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21105,300293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300293,en,Transient infantile hypertriglyceridemia and hepatosteatosis,en,1,10772,57146,Rare hepatic disease,en,21105,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21118,300385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300385,en,Pituitary carcinoma,en,1,19592,250908,Rare neoplastic disease,en,21118,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21119,300493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300493,en,Sagliker syndrome,en,1,12333,93419,Rare bone disease,en,21119,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21116,300373,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300373,en,X-linked acrogigantism,en,1,12996,97978,Rare endocrine disease,en,21116,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21117,300382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300382,en,Progeroid and marfanoid aspect-lipodystrophy syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,21117,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21114,300345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345,en,Autosomal systemic lupus erythematosus,en,1,13041,98023,Rare systemic or rheumatologic disease,en,21114,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21115,300359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359,en,PLCG2-associated antibody deficiency and immune dysregulation,en,1,13041,98023,Rare systemic or rheumatologic disease,en,21115,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,21112,300333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333,en,Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,en,1,12456,93626,Rare renal disease,en,21112,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24040,464724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464724,en,Fever-associated acute infantile liver failure syndrome,en,1,10772,57146,Rare hepatic disease,en,24040,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24042,464738,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738,en,Basel-Vanagaite-Smirin-Yosef syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24042,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24049,464760,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464760,en,Familial cavitary optic disc anomaly,en,1,12984,97966,Rare ophthalmic disorder,en,24049,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24048,464756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464756,en,Familial gastric type 1 neuroendocrine tumor,en,1,19592,250908,Rare neoplastic disease,en,24048,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24056,465508,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508,en,Symptomatic form of HFE-related hemochromatosis,en,1,10507,68367,Rare inborn errors of metabolism,en,24056,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24010,464282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282,en,Spastic paraplegia-severe developmental delay-epilepsy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24010,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24011,464288,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288,en,Short stature-brachydactyly-obesity-global developmental delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24011,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24015,464306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464306,en,DYRK1A-related intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24015,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24019,464329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464329,en,Kaposiform lymphangiomatosis,en,1,19592,250908,Rare neoplastic disease,en,24019,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24018,464321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464321,en,Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24018,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24017,464318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464318,en,Verrucous hemangioma,en,1,13046,98028,Rare circulatory system disease,en,24017,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24016,464311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464311,en,Intellectual disability syndrome due to a DYRK1A point mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24016,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24023,464366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366,en,NEK9-related lethal skeletal dysplasia,en,1,12333,93419,Rare bone disease,en,24023,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24022,464359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464359,en,Benign metanephric tumor,en,1,12456,93626,Rare renal disease,en,24022,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24021,464343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464343,en,Catastrophic antiphospholipid syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,24021,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24020,464336,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464336,en,BENTA disease,en,1,13022,98004,Rare immune disease,en,24020,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24027,464453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464453,en,Acquired methemoglobinemia,en,1,13010,97992,Rare hematologic disease,en,24027,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24026,464443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443,en,COG6-CGD,en,1,10507,68367,Rare inborn errors of metabolism,en,24026,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24025,464440,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464440,en,"Primary dystonia, DYT27 type",en,1,13024,98006,Rare neurologic disease,en,24025,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24024,464370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464370,en,Neonatal alloimmune neutropenia,en,1,13022,98004,Rare immune disease,en,24024,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24028,464458,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464458,en,Paracetamol poisoning,en,1,15031,108999,Rare disorder due to toxic effects,en,24028,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,6519,639,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=639,en,Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG,en,1,13024,98006,Rare neurologic disease,en,6519,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,6520,662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662,en,Yellow nail syndrome,en,1,12974,97955,Rare respiratory disease,en,6520,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,6522,537,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537,en,Toxic epidermal necrolysis,en,1,11896,89826,Rare skin disease,en,6522,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,6523,793,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=793,en,SAPHO syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,6523,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23675,456298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298,en,1p35.2 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23675,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23678,456328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328,en,X-linked myotubular myopathy-abnormal genitalia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23678,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23679,456333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456333,en,Hereditary neuroendocrine tumor of small intestine,en,1,19592,250908,Rare neoplastic disease,en,23679,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23676,456312,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312,en,Infantile multisystem neurologic-endocrine-pancreatic disease,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23676,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23677,456318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318,en,Hereditary sensory neuropathy-deafness-dementia syndrome,en,1,13024,98006,Rare neurologic disease,en,23677,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23666,454840,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840,en,NTHL1-related attenuated familial adenomatous polyposis,en,1,12954,97935,Rare gastroenterologic disease,en,23666,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23664,454831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454831,en,Acute radiation syndrome,en,1,15031,108999,Rare disorder due to toxic effects,en,23664,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23665,454836,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454836,en,Avian influenza,en,1,10557,68416,Rare infectious disease,en,23665,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23668,454887,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454887,en,Corticobasal syndrome,en,1,13024,98006,Rare neurologic disease,en,23668,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23659,454742,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454742,en,Variably protease-sensitive prionopathy,en,1,13024,98006,Rare neurologic disease,en,23659,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23658,454723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454723,en,Endometrioid carcinoma of ovary,en,1,19592,250908,Rare neoplastic disease,en,23658,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23657,454718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454718,en,Holmes-Adie syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,23657,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23656,454714,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454714,en,Plasma cell leukemia,en,1,19592,250908,Rare neoplastic disease,en,23656,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23663,454821,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454821,en,Pleomorphic salivary gland adenoma,en,1,12954,97935,Rare gastroenterologic disease,en,23663,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23661,454750,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750,en,Isolated tracheoesophageal fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23661,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23660,454745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454745,en,Kuru,en,1,13024,98006,Rare neurologic disease,en,23660,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23649,453533,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533,en,Polyendocrine-polyneuropathy syndrome,en,1,12996,97978,Rare endocrine disease,en,23649,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23648,453521,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521,en,Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,en,1,13024,98006,Rare neurologic disease,en,23648,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23655,454710,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454710,en,Anti-p200 pemphigoid,en,1,11896,89826,Rare skin disease,en,23655,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23654,454706,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454706,en,Progressive muscular atrophy,en,1,13024,98006,Rare neurologic disease,en,23654,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23641,451602,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451602,en,Primary cutaneous plasmacytosis,en,1,11896,89826,Rare skin disease,en,23641,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23642,451607,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451607,en,Cutaneous pseudolymphoma,en,1,11896,89826,Rare skin disease,en,23642,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23643,451612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612,en,Familial congenital nasolacrimal duct obstruction,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23643,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23645,453499,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499,en,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23645,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23646,453504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504,en,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23646,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23647,453510,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453510,en,Congenital insensitivity to pain with severe intellectual disability,en,1,13024,98006,Rare neurologic disease,en,23647,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23635,450322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450322,en,Polyclonal hyperviscosity syndrome,en,1,13010,97992,Rare hematologic disease,en,23635,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23625,449566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449566,en,Eosinophilic angiocentric fibrosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,23625,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23624,449563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449563,en,IgG4-related ophthalmic disease,en,1,12984,97966,Rare ophthalmic disorder,en,23624,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23616,449291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449291,en,Symptomatic form of fragile X syndrome in female carriers,en,1,12845,96344,Rare gynecologic or obstetric disease,en,23616,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23619,449400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449400,en,IgG4-related aortitis,en,1,17578,165711,Rare abdominal surgical disease,en,23619,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23618,449395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449395,en,IgG4-related kidney disease,en,1,12456,93626,Rare renal disease,en,23618,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23623,449432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449432,en,IgG4-related submandibular gland disease,en,1,13054,98036,Rare otorhinolaryngologic disease,en,23623,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23622,449427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449427,en,IgG4-related pachymeningitis,en,1,13024,98006,Rare neurologic disease,en,23622,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23614,449280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449280,en,Scedosporiosis,en,1,10557,68416,Rare infectious disease,en,23614,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23615,449285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449285,en,Snakebite envenomation,en,1,15031,108999,Rare disorder due to toxic effects,en,23615,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23612,449266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449266,en,Pleural empyema,en,1,12974,97955,Rare respiratory disease,en,23612,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23565,448264,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448264,en,Isolated focal non-epidermolytic palmoplantar keratoderma,en,1,11896,89826,Rare skin disease,en,23565,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23564,448251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448251,en,Progressive autosomal recessive ataxia-deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23564,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23567,448270,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448270,en,Ectopia cordis,en,1,12983,97965,Rare surgical cardiac disease,en,23567,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23566,448267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448267,en,Regressive spondylometaphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,23566,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23561,448010,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010,en,CAD-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,23561,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23560,447997,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997,en,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,en,1,10557,68416,Rare infectious disease,en,23560,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23563,448242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448242,en,Autosomal recessive brachyolmia,en,1,12333,93419,Rare bone disease,en,23563,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23562,448237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448237,en,Zika virus disease,en,1,10557,68416,Rare infectious disease,en,23562,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23557,447977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447977,en,Progressive scapulohumeroperoneal distal myopathy,en,1,13024,98006,Rare neurologic disease,en,23557,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23556,447974,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447974,en,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23556,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23558,447980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980,en,19p13.3 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23558,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23553,447954,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954,en,Combined oxidative phosphorylation defect type 25,en,1,10507,68367,Rare inborn errors of metabolism,en,23553,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23555,447964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447964,en,Autosomal dominant Charcot-Marie-Tooth disease type 2V,en,1,13024,98006,Rare neurologic disease,en,23555,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23554,447961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961,en,Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23554,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23767,459033,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033,en,Ataxia-oculomotor apraxia type 4,en,1,13024,98006,Rare neurologic disease,en,23767,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23769,459051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051,en,"Spondyloepiphyseal dysplasia, Stanescu type",en,1,12333,93419,Rare bone disease,en,23769,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23771,459061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061,en,Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23771,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23770,459056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459056,en,Autosomal recessive spastic paraplegia type 75,en,1,13024,98006,Rare neurologic disease,en,23770,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23773,459074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074,en,Corpus callosum agenesis-macrocephaly-hypertelorism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23773,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23772,459070,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070,en,X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,en,1,12333,93419,Rare bone disease,en,23772,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23749,458718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458718,en,Idiopathic spontaneous coronary artery dissection,en,1,13046,98028,Rare circulatory system disease,en,23749,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23750,458758,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458758,en,Composite hemangioendothelioma,en,1,19592,250908,Rare neoplastic disease,en,23750,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23751,458763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458763,en,Retiform hemangioendothelioma,en,1,19592,250908,Rare neoplastic disease,en,23751,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23752,458768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458768,en,Primary intralymphatic angioendothelioma,en,1,19592,250908,Rare neoplastic disease,en,23752,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23754,458785,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458785,en,Partially involuting congenital hemangioma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23754,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23755,458792,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458792,en,Mixed cystic lymphatic malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23755,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23756,458798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798,en,Spinocerebellar ataxia type 41,en,1,13024,98006,Rare neurologic disease,en,23756,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23757,458803,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803,en,Spinocerebellar ataxia type 42,en,1,13024,98006,Rare neurologic disease,en,23757,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23733,457485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457485,en,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23733,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23718,457265,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265,en,Progressive myoclonic epilepsy type 9,en,1,13024,98006,Rare neurologic disease,en,23718,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23719,457279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457279,en,Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23719,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23717,457260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457260,en,X-linked intellectual disability-hypotonia-movement disorder syndrome,en,1,13024,98006,Rare neurologic disease,en,23717,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23714,457240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240,en,X-linked intellectual disability-short stature-overweight syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23714,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23715,457246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457246,en,Clear cell sarcoma of kidney,en,1,19592,250908,Rare neoplastic disease,en,23715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23726,457395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395,en,Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,en,1,12333,93419,Rare bone disease,en,23726,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23727,457406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406,en,Multiple mitochondrial dysfunctions syndrome type 4,en,1,10507,68367,Rare inborn errors of metabolism,en,23727,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23724,457375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375,en,ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,en,1,13024,98006,Rare neurologic disease,en,23724,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23725,457378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457378,en,Complex lethal osteochondrodysplasia,en,1,12333,93419,Rare bone disease,en,23725,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23722,457359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359,en,Megalencephaly-severe kyphoscoliosis-overgrowth syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23722,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23723,457365,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457365,en,Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23723,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23720,457284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284,en,Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23720,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23721,457351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351,en,Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23721,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23703,457185,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185,en,Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,en,1,13024,98006,Rare neurologic disease,en,23703,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23697,457083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457083,en,Isolated splenogonadal fusion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23697,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23696,457077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457077,en,TAFRO syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,23696,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23699,457095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457095,en,Actinomycosis,en,1,10557,68416,Rare infectious disease,en,23699,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23698,457088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457088,en,Predisposition to invasive fungal disease due to CARD9 deficiency,en,1,13022,98004,Rare immune disease,en,23698,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23709,457223,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223,en,Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,en,1,10507,68367,Rare inborn errors of metabolism,en,23709,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23708,457212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212,en,Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,en,1,13024,98006,Rare neurologic disease,en,23708,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23705,457193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193,en,Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23705,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23707,457205,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205,en,Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,en,1,13024,98006,Rare neurologic disease,en,23707,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23680,456369,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369,en,Polyglucosan body myopathy type 2,en,1,10507,68367,Rare inborn errors of metabolism,en,23680,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23691,457050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050,en,Autosomal dominant mitochondrial myopathy with exercise intolerance,en,1,13024,98006,Rare neurologic disease,en,23691,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7023,317,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317,en,Erythrokeratodermia variabilis,en,1,11896,89826,Rare skin disease,en,7023,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7024,629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=629,en,Short stature due to growth hormone qualitative anomaly,en,1,12996,97978,Rare endocrine disease,en,7024,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7025,632,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632,en,Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,en,1,12996,97978,Rare endocrine disease,en,7025,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7026,248,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248,en,Autosomal recessive hypohidrotic ectodermal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,7026,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7027,1810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810,en,Autosomal dominant hypohidrotic ectodermal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,7027,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7028,3437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3437,en,Vogt-Koyanagi-Harada disease,en,1,13024,98006,Rare neurologic disease,en,7028,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7029,2032,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2032,en,Idiopathic pulmonary fibrosis,en,1,12974,97955,Rare respiratory disease,en,7029,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7030,1303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1303,en,Bronchiolitis obliterans with obstructive pulmonary disease,en,1,12974,97955,Rare respiratory disease,en,7030,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7032,3348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3348,en,Tracheobronchopathia osteochondroplastica,en,1,12974,97955,Rare respiratory disease,en,7032,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7033,2902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2902,en,Idiopathic chronic eosinophilic pneumonia,en,1,12974,97955,Rare respiratory disease,en,7033,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7034,1302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1302,en,Cryptogenic organizing pneumonia,en,1,12974,97955,Rare respiratory disease,en,7034,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7035,198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198,en,Occipital horn syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,7035,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7036,891,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891,en,Familial exudative vitreoretinopathy,en,1,12984,97966,Rare ophthalmic disorder,en,7036,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7037,225,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225,en,Maternally-inherited diabetes and deafness,en,1,10507,68367,Rare inborn errors of metabolism,en,7037,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24156,466677,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466677,en,Scorpion envenomation,en,1,15031,108999,Rare disorder due to toxic effects,en,24156,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24157,466682,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466682,en,Euthyroid Graves orbitopathy,en,1,12984,97966,Rare ophthalmic disorder,en,24157,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24158,466688,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688,en,Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24158,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24159,466695,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466695,en,Supratip dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24159,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24154,466670,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466670,en,Cyanide poisoning,en,1,15031,108999,Rare disorder due to toxic effects,en,24154,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24151,466650,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466650,en,Exercise-induced malignant hyperthermia,en,1,13024,98006,Rare neurologic disease,en,24151,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24185,466962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466962,en,SMARCA4-deficient sarcoma of thorax,en,1,19592,250908,Rare neoplastic disease,en,24185,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24183,466950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466950,en,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24183,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24181,466943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466943,en,WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24181,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24178,466926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926,en,Seizures-scoliosis-macrocephaly syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,24178,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24179,466934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466934,en,VPS11-related autosomal recessive hypomyelinating leukodystrophy,en,1,13024,98006,Rare neurologic disease,en,24179,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24176,466921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466921,en,Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,en,1,13024,98006,Rare neurologic disease,en,24176,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24172,466806,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466806,en,Autosomal dominant thrombocytopenia with platelet secretion defect,en,1,13010,97992,Rare hematologic disease,en,24172,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24170,466794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794,en,Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,en,1,13024,98006,Rare neurologic disease,en,24170,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24169,466791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466791,en,Macrocephaly-intellectual disability-left ventricular non compaction syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24169,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24168,466784,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784,en,Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24168,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24167,466775,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466775,en,Autosomal recessive Charcot-Marie-Tooth disease type 2X,en,1,13054,98036,Rare otorhinolaryngologic disease,en,24167,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24166,466768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466768,en,Autosomal dominant Charcot-Marie-Tooth disease type 2Z,en,1,13024,98006,Rare neurologic disease,en,24166,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24163,466729,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729,en,Familial patent arterial duct,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24163,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24162,466722,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722,en,Autosomal recessive spastic paraplegia type 77,en,1,13024,98006,Rare neurologic disease,en,24162,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24161,466718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466718,en,Martinique crinkled retinal pigment epitheliopathy,en,1,12984,97966,Rare ophthalmic disorder,en,24161,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24160,466703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703,en,TMEM199-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,24160,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24074,465824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465824,en,Fetal encasement syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24074,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24102,466026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466026,en,Class I glucose-6-phosphate dehydrogenase deficiency,en,1,13010,97992,Rare hematologic disease,en,24102,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24220,468620,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468620,en,Intellectual disability-epilepsy-extrapyramidal syndrome,en,1,13024,98006,Rare neurologic disease,en,24220,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24223,468631,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631,en,Microcephalic cortical malformations-short stature due to RTTN deficiency,en,1,13024,98006,Rare neurologic disease,en,24223,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24201,467166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166,en,Tubulinopathy-associated dysgyria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24201,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24203,467176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176,en,Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,en,1,13024,98006,Rare neurologic disease,en,24203,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24224,468635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468635,en,Cryptogenic multifocal ulcerous stenosing enteritis,en,1,12954,97935,Rare gastroenterologic disease,en,24224,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24225,468641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468641,en,Chronic enteropathy associated with SLCO2A1 gene,en,1,12954,97935,Rare gastroenterologic disease,en,24225,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24230,468661,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661,en,Autosomal recessive spastic paraplegia type 74,en,1,13024,98006,Rare neurologic disease,en,24230,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24231,468666,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666,en,Isolated generalized anhidrosis with normal sweat glands,en,1,11896,89826,Rare skin disease,en,24231,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24234,468678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678,en,White-Sutton syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,24234,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24235,468684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684,en,CCDC115-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,24235,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24233,468672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468672,en,Colobomatous macrophthalmia-microcornea syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,24233,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24238,468726,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468726,en,Severe primary trimethylaminuria,en,1,10507,68367,Rare inborn errors of metabolism,en,24238,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24236,468699,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699,en,SLC39A8-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,24236,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,24237,468717,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717,en,Rhizomelic chondrodysplasia punctata type 5,en,1,12333,93419,Rare bone disease,en,24237,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22829,401785,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401785,en,Autosomal recessive spastic paraplegia type 62,en,1,13024,98006,Rare neurologic disease,en,22829,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22828,401780,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401780,en,Autosomal recessive spastic paraplegia type 61,en,1,13024,98006,Rare neurologic disease,en,22828,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22831,401800,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401800,en,Autosomal recessive spastic paraplegia type 60,en,1,13024,98006,Rare neurologic disease,en,22831,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22830,401795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401795,en,Autosomal recessive spastic paraplegia type 59,en,1,13024,98006,Rare neurologic disease,en,22830,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22825,401768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768,en,Proximal myopathy with extrapyramidal signs,en,1,13024,98006,Rare neurologic disease,en,22825,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22824,401764,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401764,en,Pancytopenia-developmental delay syndrome,en,1,13010,97992,Rare hematologic disease,en,22824,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22827,401777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401777,en,Optic atrophy-intellectual disability syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,22827,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22837,401830,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401830,en,Autosomal recessive spastic paraplegia type 69,en,1,13024,98006,Rare neurologic disease,en,22837,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22838,401835,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401835,en,Autosomal recessive spastic paraplegia type 70,en,1,13024,98006,Rare neurologic disease,en,22838,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22839,401840,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401840,en,Autosomal recessive spastic paraplegia type 71,en,1,13024,98006,Rare neurologic disease,en,22839,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22832,401805,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401805,en,Autosomal recessive spastic paraplegia type 63,en,1,13024,98006,Rare neurologic disease,en,22832,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22833,401810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401810,en,Autosomal recessive spastic paraplegia type 64,en,1,13024,98006,Rare neurologic disease,en,22833,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22834,401815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401815,en,Autosomal recessive spastic paraplegia type 66,en,1,13024,98006,Rare neurologic disease,en,22834,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22835,401820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401820,en,Autosomal recessive spastic paraplegia type 67,en,1,13024,98006,Rare neurologic disease,en,22835,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22844,401866,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866,en,Childhood-onset spasticity with hyperglycinemia,en,1,10507,68367,Rare inborn errors of metabolism,en,22844,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22845,401869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869,en,Multiple mitochondrial dysfunctions syndrome type 1,en,1,10507,68367,Rare inborn errors of metabolism,en,22845,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22846,401874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874,en,Multiple mitochondrial dysfunctions syndrome type 2,en,1,10507,68367,Rare inborn errors of metabolism,en,22846,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22840,401849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401849,en,Autosomal spastic paraplegia type 72,en,1,13024,98006,Rare neurologic disease,en,22840,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22842,401859,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859,en,Lipoic acid synthetase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,22842,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22843,401862,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401862,en,Lipoyl transferase 1 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,22843,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22889,402823,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402823,en,Hepatitis delta,en,1,10557,68416,Rare infectious disease,en,22889,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22851,401920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401920,en,Fibrolamellar hepatocellular carcinoma,en,1,19592,250908,Rare neoplastic disease,en,22851,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22850,401911,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911,en,AXIN2-related attenuated familial adenomatous polyposis,en,1,12954,97935,Rare gastroenterologic disease,en,22850,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22848,401901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401901,en,Huntington disease-like syndrome due to C9ORF72 expansions,en,1,13024,98006,Rare neurologic disease,en,22848,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22855,401942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401942,en,Familial median cleft of the upper and lower lips,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22855,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22854,401935,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401935,en,14q24.1q24.3 microdeletion syndrome,en,1,13024,98006,Rare neurologic disease,en,22854,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22852,401923,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401923,en,9q31.1q31.3 microdeletion syndrome,en,1,13024,98006,Rare neurologic disease,en,22852,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22859,401959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401959,en,Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,en,1,13024,98006,Rare neurologic disease,en,22859,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22858,401953,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401953,en,Episodic ataxia with slurred speech,en,1,13024,98006,Rare neurologic disease,en,22858,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22857,401948,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948,en,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,22857,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22856,401945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401945,en,Moyamoya disease with early-onset achalasia,en,1,13041,98023,Rare systemic or rheumatologic disease,en,22856,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22863,401986,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986,en,1p31p32 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22863,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22862,401979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401979,en,"Autosomal recessive spondylometaphyseal dysplasia, Mgarban type",en,1,12333,93419,Rare bone disease,en,22862,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22861,401973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973,en,MEND syndrome,en,1,13024,98006,Rare neurologic disease,en,22861,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22860,401964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401964,en,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,en,1,13024,98006,Rare neurologic disease,en,22860,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22866,402003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402003,en,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,en,1,11896,89826,Rare skin disease,en,22866,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22865,401996,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401996,en,Karyomegalic interstitial nephritis,en,1,12456,93626,Rare renal disease,en,22865,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22870,402017,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402017,en,Acute myeloid leukemia with t(9;11)(p22;q23),en,1,19592,250908,Rare neoplastic disease,en,22870,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22871,402020,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402020,en,Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2),en,1,19592,250908,Rare neoplastic disease,en,22871,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22869,402014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402014,en,Acute myeloid leukemia with t(6;9)(p23;q34),en,1,19592,250908,Rare neoplastic disease,en,22869,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22875,402035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402035,en,Eosinophilic colitis,en,1,12954,97935,Rare gastroenterologic disease,en,22875,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22872,402023,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402023,en,Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13),en,1,19592,250908,Rare neoplastic disease,en,22872,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22873,402026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402026,en,Acute myeloid leukemia with NPM1 somatic mutations,en,1,19592,250908,Rare neoplastic disease,en,22873,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22878,402082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402082,en,Progressive myoclonic epilepsy type 5,en,1,13024,98006,Rare neurologic disease,en,22878,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22879,402364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402364,en,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,en,1,13024,98006,Rare neurologic disease,en,22879,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22876,402041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041,en,Autosomal recessive distal renal tubular acidosis,en,1,12456,93626,Rare renal disease,en,22876,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22877,402075,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075,en,Familial bicuspid aortic valve,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22877,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,7521,806,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=806,en,Scott syndrome,en,1,13010,97992,Rare hematologic disease,en,7521,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22927,404473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473,en,Severe intellectual disability-progressive spastic diplegia syndrome,en,1,13024,98006,Rare neurologic disease,en,22927,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22924,404463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463,en,Multisystemic smooth muscle dysfunction syndrome,en,1,13046,98028,Rare circulatory system disease,en,22924,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22925,404466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404466,en,Female infertility due to zona pellucida defect,en,1,13065,98047,Rare infertility,en,22925,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22922,404451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404451,en,FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22922,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22923,404454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454,en,Alacrimia-choreoathetosis-liver dysfunction syndrome,en,1,12456,93626,Rare renal disease,en,22923,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22920,404443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443,en,Tatton-Brown-Rahman syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22920,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22921,404448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404448,en,ADNP syndrome,en,1,13024,98006,Rare neurologic disease,en,22921,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22918,404437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404437,en,Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,en,1,13024,98006,Rare neurologic disease,en,22918,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22919,404440,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404440,en,Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22919,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22939,404560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560,en,Familial atypical multiple mole melanoma syndrome,en,1,19592,250908,Rare neoplastic disease,en,22939,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22938,404553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404553,en,Vasculitis due to ADA2 deficiency,en,1,13046,98028,Rare circulatory system disease,en,22938,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22937,404546,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404546,en,DITRA,en,1,13041,98023,Rare systemic or rheumatologic disease,en,22937,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22935,404521,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404521,en,Spinal muscular atrophy with respiratory distress type 2,en,1,13024,98006,Rare neurologic disease,en,22935,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22934,404514,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404514,en,Acquired cystic disease-associated renal cell carcinoma,en,1,19592,250908,Rare neoplastic disease,en,22934,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22933,404511,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404511,en,Clear cell papillary renal cell carcinoma,en,1,19592,250908,Rare neoplastic disease,en,22933,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22932,404507,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404507,en,Chondromyxoid fibroma,en,1,12333,93419,Rare bone disease,en,22932,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22931,404499,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499,en,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,en,1,13024,98006,Rare neurologic disease,en,22931,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22930,404493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493,en,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,en,1,13024,98006,Rare neurologic disease,en,22930,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22928,404476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476,en,Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22928,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23016,411527,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411527,en,Central retinal vein occlusion,en,1,12984,97966,Rare ophthalmic disorder,en,23016,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23018,411536,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536,en,Mild phosphoribosylpyrophosphate synthetase superactivity,en,1,10507,68367,Rare inborn errors of metabolism,en,23018,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23019,411543,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543,en,Severe phosphoribosylpyrophosphate synthetase superactivity,en,1,10507,68367,Rare inborn errors of metabolism,en,23019,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23020,411590,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411590,en,Wolfram-like syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23020,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23021,411593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411593,en,Insulin autoimmune syndrome,en,1,12996,97978,Rare endocrine disease,en,23021,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23022,411602,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602,en,Hereditary late-onset Parkinson disease,en,1,13024,98006,Rare neurologic disease,en,23022,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23023,411629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629,en,Infantile nephropathic cystinosis,en,1,10507,68367,Rare inborn errors of metabolism,en,23023,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23012,411493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493,en,Pontocerebellar hypoplasia type 10,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23012,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23013,411501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411501,en,Williams-Campbell syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23013,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23014,411511,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511,en,Angelman syndrome due to a point mutation,en,1,13024,98006,Rare neurologic disease,en,23014,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23015,411515,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515,en,Angelman syndrome due to imprinting defect in 15q11-q13,en,1,13024,98006,Rare neurologic disease,en,23015,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23033,411777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411777,en,Generalized eruptive keratoacanthoma,en,1,11896,89826,Rare skin disease,en,23033,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23032,411712,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411712,en,Maternal riboflavin deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,23032,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23034,411788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411788,en,Familial isolated trichomegaly,en,1,11896,89826,Rare skin disease,en,23034,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23037,411986,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986,en,Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,en,1,13024,98006,Rare neurologic disease,en,23037,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23039,412035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412035,en,13q12.3 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23039,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23038,412022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412022,en,Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,23038,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23025,411641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641,en,Ocular cystinosis,en,1,10507,68367,Rare inborn errors of metabolism,en,23025,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23024,411634,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634,en,Juvenile nephropathic cystinosis,en,1,10507,68367,Rare inborn errors of metabolism,en,23024,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23029,411696,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411696,en,Proton-pump inhibitor-responsive esophageal eosinophilia,en,1,12954,97935,Rare gastroenterologic disease,en,23029,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23031,411709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411709,en,Renal agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23031,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23030,411703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411703,en,Pulmonary non-tuberculous mycobacterial infection,en,1,10557,68416,Rare infectious disease,en,23030,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22539,371428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371428,en,Multicentric osteolysis-nodulosis-arthropathy spectrum,en,1,13041,98023,Rare systemic or rheumatologic disease,en,22539,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22538,371364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371364,en,Hypotonia-speech impairment-severe cognitive delay syndrome,en,1,13024,98006,Rare neurologic disease,en,22538,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22640,391673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391673,en,Necrotizing enterocolitis,en,1,12954,97935,Rare gastroenterologic disease,en,22640,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22641,391677,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391677,en,Short stature-optic atrophy-Pelger-Hut anomaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22641,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22644,391723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391723,en,Mucinous adenocarcinoma of the appendix,en,1,19592,250908,Rare neoplastic disease,en,22644,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22625,391474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474,en,Frontorhiny,en,1,12333,93419,Rare bone disease,en,22625,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22631,391504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391504,en,Transient neonatal myasthenia gravis,en,1,13024,98006,Rare neurologic disease,en,22631,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22630,391497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391497,en,Juvenile myasthenia gravis,en,1,13024,98006,Rare neurologic disease,en,22630,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22629,391490,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391490,en,Adult-onset myasthenia gravis,en,1,13024,98006,Rare neurologic disease,en,22629,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22628,391487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487,en,Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,en,1,13022,98004,Rare immune disease,en,22628,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22635,391646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646,en,Feingold syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22635,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22634,391641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641,en,Feingold syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22634,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22639,391665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391665,en,Homozygous familial hypercholesterolemia,en,1,12996,97978,Rare endocrine disease,en,22639,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22637,391655,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391655,en,Off-periods in Parkinson disease not responding to oral treatment,en,1,13022,98004,Rare immune disease,en,22637,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22636,391651,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391651,en,Glomus tumor,en,1,19592,250908,Rare neoplastic disease,en,22636,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22608,391343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391343,en,Fatal post-viral neurodegenerative disorder,en,1,13024,98006,Rare neurologic disease,en,22608,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22609,391348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391348,en,Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,22609,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22610,391351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391351,en,SURF1-related Charcot-Marie-Tooth disease type 4,en,1,13024,98006,Rare neurologic disease,en,22610,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22611,391366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391366,en,Growth retardation-mild developmental delay-chronic hepatitis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22611,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22612,391372,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391372,en,Intellectual disability-severe speech delay-mild dysmorphism syndrome,en,1,13024,98006,Rare neurologic disease,en,22612,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22613,391376,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391376,en,Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,en,1,13024,98006,Rare neurologic disease,en,22613,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22615,391384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391384,en,Familial episodic pain syndrome,en,1,13024,98006,Rare neurologic disease,en,22615,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22616,391389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391389,en,Familial episodic pain syndrome with predominantly upper body involvement,en,1,13024,98006,Rare neurologic disease,en,22616,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22617,391392,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391392,en,Familial episodic pain syndrome with predominantly lower limb involvement,en,1,13024,98006,Rare neurologic disease,en,22617,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22618,391397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391397,en,Hereditary sensory and autonomic neuropathy type 7,en,1,13024,98006,Rare neurologic disease,en,22618,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22619,391408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408,en,Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,en,1,13024,98006,Rare neurologic disease,en,22619,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22620,391411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391411,en,Atypical juvenile parkinsonism,en,1,13024,98006,Rare neurologic disease,en,22620,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22621,391417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417,en,HSD10 disease,en,1,10507,68367,Rare inborn errors of metabolism,en,22621,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22622,391428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428,en,"HSD10 disease, infantile type",en,1,10507,68367,Rare inborn errors of metabolism,en,22622,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22623,391457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457,en,"HSD10 disease, neonatal type",en,1,10507,68367,Rare inborn errors of metabolism,en,22623,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22601,391307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391307,en,Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22601,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22603,391316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391316,en,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,en,1,13024,98006,Rare neurologic disease,en,22603,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22602,391311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391311,en,Susceptibility to viral and mycobacterial infections due to STAT1 deficiency,en,1,13022,98004,Rare immune disease,en,22602,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22605,391327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391327,en,X-linked calvarial hyperostosis,en,1,12333,93419,Rare bone disease,en,22605,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22604,391320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391320,en,East Texas bleeding disorder,en,1,13010,97992,Rare hematologic disease,en,22604,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22606,391330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391330,en,X-linked osteoporosis with fractures,en,1,12333,93419,Rare bone disease,en,22606,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22719,398063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398063,en,Refractory celiac disease,en,1,12954,97935,Rare gastroenterologic disease,en,22719,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22718,398058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398058,en,Squamous cell carcinoma of the penis,en,1,19592,250908,Rare neoplastic disease,en,22718,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22717,398053,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398053,en,Adenocarcinoma of the penis,en,1,19592,250908,Rare neoplastic disease,en,22717,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22715,397973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973,en,Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22714,397968,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397968,en,Charcot-Marie-Tooth disease type 2R,en,1,13024,98006,Rare neurologic disease,en,22714,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22713,397964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964,en,Combined immunodeficiency due to MALT1 deficiency,en,1,13022,98004,Rare immune disease,en,22713,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22712,397959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397959,en,TCR-alpha-beta-positive T-cell deficiency,en,1,13022,98004,Rare immune disease,en,22712,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22711,397951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397951,en,Microcephaly-thin corpus callosum-intellectual disability syndrome,en,1,13024,98006,Rare neurologic disease,en,22711,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22710,397946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397946,en,Autosomal spastic paraplegia type 58,en,1,13024,98006,Rare neurologic disease,en,22710,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22709,397941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941,en,MAN1B1-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,22709,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22708,397937,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937,en,Polyglucosan body myopathy type 1,en,1,10507,68367,Rare inborn errors of metabolism,en,22708,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22707,397933,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397933,en,Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,en,1,13024,98006,Rare neurologic disease,en,22707,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22705,397927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397927,en,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22705,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22704,397922,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922,en,Ferro-cerebro-cutaneous syndrome,en,1,13024,98006,Rare neurologic disease,en,22704,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22702,397787,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787,en,Severe combined immunodeficiency due to IKK2 deficiency,en,1,13022,98004,Rare immune disease,en,22702,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22700,397755,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397755,en,Periodic paralysis with transient compartment-like syndrome,en,1,13024,98006,Rare neurologic disease,en,22700,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22701,397758,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397758,en,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,en,1,12984,97966,Rare ophthalmic disorder,en,22701,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22698,397744,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744,en,Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,en,1,13024,98006,Rare neurologic disease,en,22698,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22699,397750,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397750,en,Periodic paralysis with later-onset distal motor neuropathy,en,1,13024,98006,Rare neurologic disease,en,22699,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22696,397725,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725,en,COASY protein-associated neurodegeneration,en,1,13024,98006,Rare neurologic disease,en,22696,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22697,397735,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397735,en,Autosomal dominant Charcot-Marie-Tooth disease type 2U,en,1,13024,98006,Rare neurologic disease,en,22697,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22694,397709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709,en,Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22694,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22695,397715,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715,en,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22695,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22692,397692,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397692,en,Hereditary isolated aplastic anemia,en,1,13010,97992,Rare hematologic disease,en,22692,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22693,397695,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397695,en,3q27.3 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22693,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22690,397623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623,en,Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,en,1,12333,93419,Rare bone disease,en,22690,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22691,397685,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685,en,Familial hyperprolactinemia,en,1,12996,97978,Rare endocrine disease,en,22691,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22688,397615,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397615,en,Obesity due to CEP19 deficiency,en,1,12996,97978,Rare endocrine disease,en,22688,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22689,397618,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397618,en,Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,22689,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22685,397596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397596,en,Activated PI3K-delta syndrome,en,1,13022,98004,Rare immune disease,en,22685,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22684,397593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397593,en,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,22684,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22687,397612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397612,en,Macrocephaly-developmental delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22687,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22686,397606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606,en,PrP systemic amyloidosis,en,1,13024,98006,Rare neurologic disease,en,22686,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22683,397590,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590,en,Silver-Russell syndrome due to a point mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22683,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22682,397587,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397587,en,Deep dermatophytosis,en,1,10557,68416,Rare infectious disease,en,22682,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22660,394532,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532,en,"Multiple acyl-CoA dehydrogenase deficiency, mild type",en,1,10507,68367,Rare inborn errors of metabolism,en,22660,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22659,394529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529,en,"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type",en,1,10507,68367,Rare inborn errors of metabolism,en,22659,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22775,399808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399808,en,Male infertility with teratozoospermia due to single gene mutation,en,1,13065,98047,Rare infertility,en,22775,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22774,399805,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399805,en,Male infertility with azoospermia or oligozoospermia due to single gene mutation,en,1,13065,98047,Rare infertility,en,22774,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22760,399329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399329,en,Epiphysiolysis of the hip,en,1,12333,93419,Rare bone disease,en,22760,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22754,399180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399180,en,Secondary non-traumatic avascular necrosis,en,1,12333,93419,Rare bone disease,en,22754,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22753,399175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399175,en,Traumatic avascular necrosis,en,1,12333,93419,Rare bone disease,en,22753,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22758,399307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399307,en,Idiopathic avascular necrosis,en,1,12333,93419,Rare bone disease,en,22758,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22756,399293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399293,en,Osteonecrosis of the jaw,en,1,12333,93419,Rare bone disease,en,22756,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22745,399058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058,en,Alpha-B crystallin-related late-onset myopathy,en,1,13024,98006,Rare neurologic disease,en,22745,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22744,398987,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398987,en,Malignant teratoma of ovary,en,1,19592,250908,Rare neoplastic disease,en,22744,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22747,399086,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399086,en,Finnish upper limb-onset distal myopathy,en,1,13024,98006,Rare neurologic disease,en,22747,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22746,399081,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399081,en,KLHL9-related early-onset distal myopathy,en,1,13024,98006,Rare neurologic disease,en,22746,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22749,399103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399103,en,Distal nebulin myopathy,en,1,13024,98006,Rare neurologic disease,en,22749,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22748,399096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399096,en,Distal anoctaminopathy,en,1,13024,98006,Rare neurologic disease,en,22748,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22741,398961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398961,en,Mucinous adenocarcinoma of ovary,en,1,19592,250908,Rare neoplastic disease,en,22741,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22742,398971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398971,en,Clear cell adenocarcinoma of the ovary,en,1,19592,250908,Rare neoplastic disease,en,22742,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22728,398124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398124,en,Neonatal lupus erythematosus,en,1,13041,98023,Rare systemic or rheumatologic disease,en,22728,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22729,398127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398127,en,Neonatal scleroderma,en,1,13041,98023,Rare systemic or rheumatologic disease,en,22729,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22730,398147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398147,en,Persistent idiopathic facial pain,en,1,13024,98006,Rare neurologic disease,en,22730,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22731,398156,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398156,en,Oculoauriculofrontonasal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22731,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22732,398166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398166,en,Focal facial dermal dysplasia,en,1,11896,89826,Rare skin disease,en,22732,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22733,398173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398173,en,Focal facial dermal dysplasia type II,en,1,11896,89826,Rare skin disease,en,22733,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22734,398189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398189,en,Focal facial dermal dysplasia type IV,en,1,11896,89826,Rare skin disease,en,22734,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22720,398069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069,en,MAGEL2-related Prader-Willi-like syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22720,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22722,398079,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079,en,SIM1-related Prader-Willi-like syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,22722,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22723,398088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398088,en,Hereditary cryohydrocytosis with normal stomatin,en,1,13010,97992,Rare hematologic disease,en,22723,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22725,398097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398097,en,Neonatal antiphospholipid syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,22725,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22726,398109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398109,en,Neonatal autoimmune hemolytic anemia,en,1,13041,98023,Rare systemic or rheumatologic disease,en,22726,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,22727,398117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398117,en,Neonatal dermatomyositis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,22727,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23306,435628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628,en,Keppen-Lubinsky syndrome,en,1,12996,97978,Rare endocrine disease,en,23306,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23310,435660,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435660,en,LIPE-related familial partial lipodystrophy,en,1,12996,97978,Rare endocrine disease,en,23310,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23309,435651,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435651,en,CIDEC-related familial partial lipodystrophy,en,1,12996,97978,Rare endocrine disease,en,23309,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23308,435638,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435638,en,3p25.3 microdeletion syndrome,en,1,13024,98006,Rare neurologic disease,en,23308,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23314,435804,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804,en,Short stature-advanced bone age-early-onset osteoarthritis syndrome,en,1,12333,93419,Rare bone disease,en,23314,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23318,435845,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435845,en,Lethal neonatal spasticity-epileptic encephalopathy syndrome,en,1,13024,98006,Rare neurologic disease,en,23318,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23319,435930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435930,en,Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23319,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23317,435819,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435819,en,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,en,1,13024,98006,Rare neurologic disease,en,23317,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23322,435953,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435953,en,Progeroid features-hepatocellular carcinoma predisposition syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23322,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23323,435988,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435988,en,Chronic atrial and intestinal dysrhythmia syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,23323,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23320,435934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934,en,COG2-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,23320,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23321,435938,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435938,en,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23321,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23326,436141,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141,en,Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23326,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23327,436144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436144,en,Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,en,1,12996,97978,Rare endocrine disease,en,23327,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23324,435998,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435998,en,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,en,1,13024,98006,Rare neurologic disease,en,23324,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23325,436003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003,en,Contractures-developmental delay-Pierre Robin syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23325,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23329,436159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159,en,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,en,1,13022,98004,Rare immune disease,en,23329,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23328,436151,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436151,en,Intellectual disability-expressive aphasia-facial dysmorphism syndrome,en,1,13024,98006,Rare neurologic disease,en,23328,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23331,436169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436169,en,Thrombomodulin-related bleeding disorder,en,1,13010,97992,Rare hematologic disease,en,23331,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23330,436166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436166,en,Periodic fever-infantile enterocolitis-autoinflammatory syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,23330,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23333,436182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436182,en,Microcephalic primordial dwarfism-insulin resistance syndrome,en,1,12996,97978,Rare endocrine disease,en,23333,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23332,436174,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174,en,Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,en,1,12996,97978,Rare endocrine disease,en,23332,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23335,436245,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436245,en,Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,23335,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23334,436242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436242,en,Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,en,1,12948,97929,Rare cardiac disease,en,23334,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23337,436271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271,en,Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy,en,1,13024,98006,Rare neurologic disease,en,23337,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23336,436252,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252,en,Combined immunodeficiency-enteropathy spectrum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23336,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23338,436274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274,en,Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,en,1,12984,97966,Rare ophthalmic disorder,en,23338,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23351,437552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437552,en,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,en,1,13022,98004,Rare immune disease,en,23351,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23367,438178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178,en,Fatty acyl-CoA reductase 1 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,23367,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23366,438159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159,en,STAT3-related early-onset multisystem autoimmune disease,en,1,13022,98004,Rare immune disease,en,23366,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23365,438134,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134,en,PCNA-related progressive neurodegenerative photosensitivity syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23365,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23364,438117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438117,en,Steel syndrome,en,1,12333,93419,Rare bone disease,en,23364,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23363,438114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438114,en,RARS-related autosomal recessive hypomyelinating leukodystrophy,en,1,13024,98006,Rare neurologic disease,en,23363,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23361,438075,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438075,en,Ketoacidosis due to monocarboxylate transporter-1 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,23361,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23374,438279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438279,en,Human infection by orthopoxvirus,en,1,10557,68416,Rare infectious disease,en,23374,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23373,438274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438274,en,GCGR-related hyperglucagonemia,en,1,17578,165711,Rare abdominal surgical disease,en,23373,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23371,438266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438266,en,Progressive encephalomyelitis with rigidity and myoclonus,en,1,13024,98006,Rare neurologic disease,en,23371,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23370,438216,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438216,en,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,en,1,13024,98006,Rare neurologic disease,en,23370,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23369,438213,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438213,en,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome,en,1,13024,98006,Rare neurologic disease,en,23369,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23368,438207,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438207,en,Severe autosomal recessive macrothrombocytopenia,en,1,13010,97992,Rare hematologic disease,en,23368,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23382,439224,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439224,en,ALECT2 amyloidosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,23382,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23383,439232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439232,en,AApoAIV amyloidosis,en,1,12456,93626,Rare renal disease,en,23383,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23380,439212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439212,en,Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,en,1,13024,98006,Rare neurologic disease,en,23380,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23381,439218,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439218,en,KCNQ2-related epileptic encephalopathy,en,1,13024,98006,Rare neurologic disease,en,23381,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23378,439196,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439196,en,Zinc-responsive necrolytic acral erythema,en,1,11896,89826,Rare skin disease,en,23378,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23379,439202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439202,en,Non-recovering obstetric brachial plexus lesion,en,1,13024,98006,Rare neurologic disease,en,23379,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23376,439167,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439167,en,Placental insufficiency,en,1,12948,97929,Rare cardiac disease,en,23376,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23377,439175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439175,en,Pediatric arterial ischemic stroke,en,1,13024,98006,Rare neurologic disease,en,23377,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23390,439762,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439762,en,Systemic polyarteritis nodosa,en,1,13041,98023,Rare systemic or rheumatologic disease,en,23390,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23391,439822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439822,en,PDE4D haploinsufficiency syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23391,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23388,439746,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439746,en,Secondary polyarteritis nodosa,en,1,13041,98023,Rare systemic or rheumatologic disease,en,23388,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23389,439755,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439755,en,Single-organ polyarteritis nodosa,en,1,13041,98023,Rare systemic or rheumatologic disease,en,23389,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23386,439729,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439729,en,Cutaneous polyarteritis nodosa,en,1,13041,98023,Rare systemic or rheumatologic disease,en,23386,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23387,439737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439737,en,Primary polyarteritis nodosa,en,1,13041,98023,Rare systemic or rheumatologic disease,en,23387,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23385,439254,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439254,en,ITM2B amyloidosis,en,1,13024,98006,Rare neurologic disease,en,23385,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23397,440221,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440221,en,Congenital oculomotor nerve palsy,en,1,12984,97966,Rare ophthalmic disorder,en,23397,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23398,440233,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440233,en,Congenital abducens nerve palsy,en,1,12984,97966,Rare ophthalmic disorder,en,23398,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23393,439854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854,en,Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,en,1,12948,97929,Rare cardiac disease,en,23393,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23395,439897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897,en,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23395,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23394,439881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439881,en,Plastic bronchitis,en,1,12974,97955,Rare respiratory disease,en,23394,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23404,440402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440402,en,Interstitial lung disease due to ABCA3 deficiency,en,1,12974,97955,Rare respiratory disease,en,23404,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23401,440354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354,en,Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,en,1,12333,93419,Rare bone disease,en,23401,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23403,440392,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440392,en,Interstitial lung disease due to SP-C deficiency,en,1,12974,97955,Rare respiratory disease,en,23403,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23402,440368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440368,en,Necrotizing soft tissue infection,en,1,10557,68416,Rare infectious disease,en,23402,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23412,440713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440713,en,Isolated sedoheptulokinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,23412,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23413,440724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440724,en,Extensive peripapillary myelinated nerve fibers,en,1,12984,97966,Rare ophthalmic disorder,en,23413,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23414,440727,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440727,en,Combined hamartoma of the retina and retinal pigment epithelium,en,1,12984,97966,Rare ophthalmic disorder,en,23414,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23415,440731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440731,en,L-ferritin deficiency,en,1,13010,97992,Rare hematologic disease,en,23415,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23408,440427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440427,en,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,en,1,12974,97955,Rare respiratory disease,en,23408,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23409,440437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440437,en,Familial colorectal cancer Type X,en,1,19592,250908,Rare neoplastic disease,en,23409,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23411,440706,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440706,en,Ribose-5-P isomerase deficiency,en,1,13024,98006,Rare neurologic disease,en,23411,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23422,441447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441447,en,Early-onset posterior subcapsular cataract,en,1,12984,97966,Rare ophthalmic disorder,en,23422,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23423,441452,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441452,en,Early-onset lamellar cataract,en,1,12984,97966,Rare ophthalmic disorder,en,23423,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23416,440987,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440987,en,Isolated agenesis of gallbladder,en,1,10772,57146,Rare hepatic disease,en,23416,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23434,443057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057,en,Sporadic porphyria cutanea tarda,en,1,10507,68367,Rare inborn errors of metabolism,en,23434,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23435,443062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062,en,Familial porphyria cutanea tarda,en,1,10507,68367,Rare inborn errors of metabolism,en,23435,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23438,443079,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443079,en,Central serous chorioretinopathy,en,1,12984,97966,Rare ophthalmic disorder,en,23438,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23439,443084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443084,en,Baroreflex failure,en,1,13024,98006,Rare neurologic disease,en,23439,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23436,443070,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443070,en,Hemicrania continua,en,1,13024,98006,Rare neurologic disease,en,23436,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23437,443073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443073,en,Charcot-Marie-Tooth disease type 2S,en,1,13024,98006,Rare neurologic disease,en,23437,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23427,442835,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835,en,Non-specific early-onset epileptic encephalopathy,en,1,13024,98006,Rare neurologic disease,en,23427,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23424,442582,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442582,en,AH amyloidosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,23424,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23451,443197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197,en,X-linked erythropoietic protoporphyria,en,1,10507,68367,Rare inborn errors of metabolism,en,23451,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8026,3008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008,en,Pyruvate carboxylase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,8026,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23450,443192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443192,en,Classic stiff person syndrome,en,1,13024,98006,Rare neurologic disease,en,23450,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23449,443180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443180,en,Spontaneous intracranial hypotension,en,1,13024,98006,Rare neurologic disease,en,23449,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23448,443173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443173,en,Postpartum psychosis,en,1,13024,98006,Rare neurologic disease,en,23448,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23455,443291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443291,en,HIV-associated cancer,en,1,19592,250908,Rare neoplastic disease,en,23455,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8030,298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298,en,Mitochondrial neurogastrointestinal encephalomyopathy,en,1,10507,68367,Rare inborn errors of metabolism,en,8030,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8031,396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=396,en,Chronic hiccup,en,1,13024,98006,Rare neurologic disease,en,8031,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23453,443236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443236,en,Postural orthostatic tachycardia syndrome due to NET deficiency,en,1,13024,98006,Rare neurologic disease,en,23453,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8028,552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=552,en,MODY,en,1,12996,97978,Rare endocrine disease,en,8028,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8029,854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=854,en,Primitive portal vein thrombosis,en,1,10772,57146,Rare hepatic disease,en,8029,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23452,443227,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443227,en,Paratyphoid fever,en,1,10557,68416,Rare infectious disease,en,23452,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23443,443098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443098,en,Hyperostosis cranialis interna,en,1,12333,93419,Rare bone disease,en,23443,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23440,443087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087,en,"46,XY difference of sex development due to testicular 17,20-desmolase deficiency",en,1,12469,93890,Rare developmental defect during embryogenesis,en,23440,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23447,443167,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443167,en,NUT midline carcinoma,en,1,19592,250908,Rare neoplastic disease,en,23447,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8022,130,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=130,en,Brugada syndrome,en,1,12948,97929,Rare cardiac disease,en,8022,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8023,277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277,en,Severe combined immunodeficiency due to adenosine deaminase deficiency,en,1,13022,98004,Rare immune disease,en,8023,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23446,443162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162,en,NDE1-related microhydranencephaly,en,1,13024,98006,Rare neurologic disease,en,23446,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23445,443159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443159,en,Lymphoplasmacytic lymphoma without IgM production,en,1,19592,250908,Rare neoplastic disease,en,23445,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23444,443101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443101,en,Hypothalamic adipsic hypernatraemia syndrome,en,1,12996,97978,Rare endocrine disease,en,23444,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23467,443804,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443804,en,Focal stiff limb syndrome,en,1,13024,98006,Rare neurologic disease,en,23467,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23468,443811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811,en,PGM3-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,23468,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23470,443950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443950,en,DNAJB2-related Charcot-Marie-Tooth disease type 2,en,1,13024,98006,Rare neurologic disease,en,23470,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23471,443988,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988,en,Ventriculomegaly-cystic kidney disease,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23471,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23481,444092,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092,en,Autoimmune interstitial lung disease-arthritis syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,23481,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23482,444099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444099,en,Autosomal dominant spastic paraplegia type 73,en,1,13024,98006,Rare neurologic disease,en,23482,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23486,444138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444138,en,Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,en,1,11896,89826,Rare skin disease,en,23486,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23473,444002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444002,en,11q22.2q22.3 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23473,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23472,443995,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995,en,Mandibulofacial dysostosis with alopecia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23472,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23475,444048,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048,en,"46,XX ovarian dysgenesis-short stature syndrome",en,1,12469,93890,Rare developmental defect during embryogenesis,en,23475,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23474,444013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013,en,Combined oxidative phosphorylation defect type 23,en,1,10507,68367,Rare inborn errors of metabolism,en,23474,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23477,444069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069,en,Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23477,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23476,444051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444051,en,20q11.2 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23476,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23479,444077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077,en,Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23479,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23478,444072,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072,en,Cerebellar-facial-dental syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23478,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23490,444463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444463,en,Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,23490,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23491,444490,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444490,en,Familial chylomicronemia syndrome,en,1,12996,97978,Rare endocrine disease,en,23491,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23488,444316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444316,en,Idiopathic phalangeal acro-osteolysis,en,1,12333,93419,Rare bone disease,en,23488,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23489,444458,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444458,en,Combined oxidative phosphorylation defect type 24,en,1,10507,68367,Rare inborn errors of metabolism,en,23489,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23519,445110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110,en,Limb-girdle muscular dystrophy due to POMK deficiency,en,1,13024,98006,Rare neurologic disease,en,23519,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23517,445062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062,en,Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,en,1,12996,97978,Rare endocrine disease,en,23517,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23516,445038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038,en,3-methylglutaconic aciduria type 7,en,1,10507,68367,Rare inborn errors of metabolism,en,23516,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23515,445018,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018,en,Combined immunodeficiency due to LRBA deficiency,en,1,13022,98004,Rare immune disease,en,23515,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23533,447731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447731,en,NIK deficiency,en,1,13022,98004,Rare immune disease,en,23533,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23534,447737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737,en,DOCK2 deficiency,en,1,13022,98004,Rare immune disease,en,23534,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23535,447740,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447740,en,Susceptibility to localized juvenile periodontitis,en,1,13022,98004,Rare immune disease,en,23535,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23549,447881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447881,en,Idiopathic dropped head syndrome,en,1,13024,98006,Rare neurologic disease,en,23549,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23548,447877,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447877,en,Polymerase proofreading-related adenomatous polyposis,en,1,12954,97935,Rare gastroenterologic disease,en,23548,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23551,447896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447896,en,Tremor-ataxia-central hypomyelination syndrome,en,1,13024,98006,Rare neurologic disease,en,23551,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23550,447893,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447893,en,Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,en,1,13024,98006,Rare neurologic disease,en,23550,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23544,447788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447788,en,Cerebral visual impairment,en,1,12984,97966,Rare ophthalmic disorder,en,23544,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23546,447795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795,en,Lipoyl transferase 2 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,23546,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23541,447774,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447774,en,Secondary sclerosing cholangitis,en,1,10772,57146,Rare hepatic disease,en,23541,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23543,447784,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784,en,Mitochondrial pyruvate carrier deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,23543,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23542,447777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447777,en,Keratocystic odontogenic tumor,en,1,13044,98026,Rare odontologic disease,en,23542,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23537,447757,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447757,en,Autosomal dominant spastic paraplegia type 9B,en,1,13024,98006,Rare neurologic disease,en,23537,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23536,447753,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447753,en,Autosomal dominant spastic paraplegia type 9A,en,1,13024,98006,Rare neurologic disease,en,23536,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23539,447764,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447764,en,IgG4-related sclerosing cholangitis,en,1,10772,57146,Rare hepatic disease,en,23539,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23538,447760,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447760,en,Autosomal recessive spastic paraplegia type 9B,en,1,13024,98006,Rare neurologic disease,en,23538,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23041,412066,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412066,en,PRKAR1B-related neurodegenerative dementia with intermediate filaments,en,1,13024,98006,Rare neurologic disease,en,23041,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23040,412057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057,en,Autosomal recessive cerebellar ataxia due to STUB1 deficiency,en,1,13024,98006,Rare neurologic disease,en,23040,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23043,412181,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412181,en,Epidermolysis bullosa simplex due to BP230 deficiency,en,1,11896,89826,Rare skin disease,en,23043,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23042,412069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412069,en,AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,en,1,13024,98006,Rare neurologic disease,en,23042,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23044,412189,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412189,en,Epidermolysis bullosa simplex due to exophilin 5 deficiency,en,1,11896,89826,Rare skin disease,en,23044,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23047,412217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412217,en,Dystonia-aphonia syndrome,en,1,13024,98006,Rare neurologic disease,en,23047,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23046,412206,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412206,en,Primary failure of tooth eruption,en,1,13044,98026,Rare odontologic disease,en,23046,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23090,418959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418959,en,Squamous cell carcinoma of the stomach,en,1,19592,250908,Rare neoplastic disease,en,23090,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23088,418945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418945,en,"Carcinoma of esophagus, salivary gland type",en,1,19592,250908,Rare neoplastic disease,en,23088,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23089,418951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418951,en,Undifferentiated carcinoma of esophagus,en,1,19592,250908,Rare neoplastic disease,en,23089,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23102,420259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420259,en,Secondary pulmonary alveolar proteinosis,en,1,12974,97955,Rare respiratory disease,en,23102,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23101,420179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420179,en,Malan overgrowth syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23101,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23125,420789,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420789,en,Autoimmune encephalopathy with parasomnia and obstructive sleep apnea,en,1,13024,98006,Rare neurologic disease,en,23125,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23126,420794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794,en,Cono-spondylar dysplasia,en,1,12333,93419,Rare bone disease,en,23126,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23120,420702,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420702,en,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,en,1,13022,98004,Rare immune disease,en,23120,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23121,420728,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420728,en,Combined oxidative phosphorylation defect type 20,en,1,10507,68367,Rare inborn errors of metabolism,en,23121,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23122,420733,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420733,en,Combined oxidative phosphorylation defect type 21,en,1,10507,68367,Rare inborn errors of metabolism,en,23122,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23123,420741,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741,en,RIDDLE syndrome,en,1,13022,98004,Rare immune disease,en,23123,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23109,420492,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420492,en,"Adult-onset cervical dystonia, DYT23 type",en,1,13024,98006,Rare neurologic disease,en,23109,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23108,420485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420485,en,Cranio-cervical dystonia with laryngeal and upper-limb involvement,en,1,13024,98006,Rare neurologic disease,en,23108,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23111,420556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420556,en,Visual snow syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,23111,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23104,420402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420402,en,Semicircular canal dehiscence syndrome,en,1,13054,98036,Rare otorhinolaryngologic disease,en,23104,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23106,420429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429,en,"Glycogen storage disease due to acid maltase deficiency, late-onset",en,1,10507,68367,Rare inborn errors of metabolism,en,23106,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23117,420611,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420611,en,Transient myeloproliferative syndrome,en,1,13010,97992,Rare hematologic disease,en,23117,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23116,420584,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584,en,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23116,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23119,420699,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420699,en,Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,en,1,13022,98004,Rare immune disease,en,23119,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23118,420686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420686,en,Woolly hair-palmoplantar keratoderma syndrome,en,1,11896,89826,Rare skin disease,en,23118,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23113,420561,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561,en,Temple-Baraitser syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23113,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23115,420573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420573,en,Severe combined immunodeficiency due to CTPS1 deficiency,en,1,13022,98004,Rare immune disease,en,23115,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23114,420566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420566,en,Bleeding disorder due to CalDAG-GEFI deficiency,en,1,13010,97992,Rare hematologic disease,en,23114,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23158,423461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461,en,Mucolipidosis type III alpha/beta,en,1,10507,68367,Rare inborn errors of metabolism,en,23158,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23159,423470,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470,en,Mucolipidosis type III gamma,en,1,10507,68367,Rare inborn errors of metabolism,en,23159,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23157,423454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454,en,Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23157,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23154,423384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423384,en,Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency,en,1,13022,98004,Rare immune disease,en,23154,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23152,423296,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296,en,Spinocerebellar ataxia type 38,en,1,13024,98006,Rare neurologic disease,en,23152,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23153,423306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306,en,Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23153,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23166,423717,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423717,en,Cutaneous larva migrans,en,1,10557,68416,Rare infectious disease,en,23166,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23164,423693,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423693,en,Double outlet right ventricle with subaortic or doubly committed ventricular septal defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23164,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23165,423712,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423712,en,"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy",en,1,12469,93890,Rare developmental defect during embryogenesis,en,23165,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23160,423479,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479,en,X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,23160,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23138,422526,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422526,en,Hereditary clear cell renal cell carcinoma,en,1,19592,250908,Rare neoplastic disease,en,23138,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23151,423275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423275,en,Spinocerebellar ataxia type 40,en,1,13024,98006,Rare neurologic disease,en,23151,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23193,424065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424065,en,Solid pseudopapillary carcinoma of pancreas,en,1,19592,250908,Rare neoplastic disease,en,23193,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23192,424058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424058,en,Intraductal papillary mucinous carcinoma of pancreas,en,1,19592,250908,Rare neoplastic disease,en,23192,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23195,424080,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424080,en,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,en,1,19592,250908,Rare neoplastic disease,en,23195,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23194,424073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424073,en,Serous cystadenocarcinoma of pancreas,en,1,19592,250908,Rare neoplastic disease,en,23194,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23197,424107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424107,en,Congenital myopathy with myasthenic-like onset,en,1,13024,98006,Rare neurologic disease,en,23197,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23196,424099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099,en,Colobomatous microphthalmia-rhizomelic dysplasia syndrome,en,1,12333,93419,Rare bone disease,en,23196,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23198,424261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424261,en,TOR1AIP1-related limb-girdle muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,23198,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23185,424016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424016,en,Adenocarcinoma of the anal canal,en,1,19592,250908,Rare neoplastic disease,en,23185,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23187,424027,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027,en,Progressive myoclonic epilepsy type 8,en,1,13024,98006,Rare neurologic disease,en,23187,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23186,424019,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424019,en,Squamous cell carcinoma of the anal canal,en,1,19592,250908,Rare neoplastic disease,en,23186,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23189,424039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424039,en,Squamous cell carcinoma of pancreas,en,1,19592,250908,Rare neoplastic disease,en,23189,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23191,424053,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424053,en,Mucinous cystadenocarcinoma of the pancreas,en,1,19592,250908,Rare neoplastic disease,en,23191,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23190,424046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424046,en,Acinar cell carcinoma of pancreas,en,1,19592,250908,Rare neoplastic disease,en,23190,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23176,423968,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423968,en,Squamous cell carcinoma of the small intestine,en,1,19592,250908,Rare neoplastic disease,en,23176,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23180,423994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423994,en,Squamous cell carcinoma of the colon,en,1,19592,250908,Rare neoplastic disease,en,23180,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23182,424002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424002,en,Squamous cell carcinoma of the rectum,en,1,19592,250908,Rare neoplastic disease,en,23182,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23170,423786,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423786,en,Undifferentiated carcinoma of stomach,en,1,19592,250908,Rare neoplastic disease,en,23170,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23174,423894,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423894,en,Microcephaly-complex motor and sensory axonal neuropathy syndrome,en,1,13024,98006,Rare neurologic disease,en,23174,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23231,431140,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140,en,X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23231,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23209,425120,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120,en,STING-associated vasculopathy with onset in infancy,en,1,13041,98023,Rare systemic or rheumatologic disease,en,23209,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23202,424943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424943,en,Adenocarcinoma of the liver and intrahepatic biliary tract,en,1,19592,250908,Rare neoplastic disease,en,23202,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23203,424970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424970,en,Undifferentiated carcinoma of liver and intrahepatic biliary tract,en,1,19592,250908,Rare neoplastic disease,en,23203,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23206,424991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424991,en,Adenocarcinoma of the gallbladder and extrahepatic biliary tract,en,1,19592,250908,Rare neoplastic disease,en,23206,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23207,424996,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424996,en,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,en,1,19592,250908,Rare neoplastic disease,en,23207,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23204,424975,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424975,en,Squamous cell carcinoma of liver and intrahepatic biliary tract,en,1,19592,250908,Rare neoplastic disease,en,23204,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23205,424982,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424982,en,Biliary cystadenocarcinoma,en,1,19592,250908,Rare neoplastic disease,en,23205,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23249,431361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361,en,Progressive encephalopathy with leukodystrophy due to DECR deficiency,en,1,13024,98006,Rare neurologic disease,en,23249,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23245,431341,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341,en,Patent urachus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23245,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23246,431344,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344,en,Urachal sinus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23246,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23247,431347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347,en,Urachal diverticulum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23247,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23241,431272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431272,en,X-linked scapuloperoneal muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,23241,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23243,431329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431329,en,Autosomal recessive spastic paraplegia type 57,en,1,13024,98006,Rare neurologic disease,en,23243,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23238,431255,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431255,en,Scapuloperoneal spinal muscular atrophy,en,1,13024,98006,Rare neurologic disease,en,23238,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23233,431149,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431149,en,Combined immunodeficiency due to OX40 deficiency,en,1,13022,98004,Rare immune disease,en,23233,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23235,431166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431166,en,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,en,1,13022,98004,Rare immune disease,en,23235,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23295,435438,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435438,en,Progressive myoclonic epilepsy type 7,en,1,13024,98006,Rare neurologic disease,en,23295,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23294,435387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435387,en,Autosomal dominant Charcot-Marie-Tooth disease type 2Y,en,1,13024,98006,Rare neurologic disease,en,23294,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23293,435372,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372,en,Anterior urethral valve,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23293,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23291,435329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435329,en,Familial ossifying fibroma,en,1,12333,93419,Rare bone disease,en,23291,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,23271,434179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179,en,Orofaciodigital syndrome type 14,en,1,12469,93890,Rare developmental defect during embryogenesis,en,23271,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26292,504476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476,en,Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,en,1,13024,98006,Rare neurologic disease,en,26292,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26293,504523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504523,en,Severe combined immunodeficiency due to LAT deficiency,en,1,13022,98004,Rare immune disease,en,26293,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26294,504530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504530,en,Combined immunodeficiency due to Moesin deficiency,en,1,13022,98004,Rare immune disease,en,26294,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8768,26793,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793,en,Very long chain acyl-CoA dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,8768,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8775,29072,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29072,en,Hereditary pheochromocytoma-paraganglioma,en,1,12996,97978,Rare endocrine disease,en,8775,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8772,28378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378,en,Tyrosinemia type 2,en,1,10507,68367,Rare inborn errors of metabolism,en,8772,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8778,29207,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29207,en,Reactive arthritis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,8778,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8776,29073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29073,en,Multiple myeloma,en,1,19592,250908,Rare neoplastic disease,en,8776,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8780,29822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29822,en,Spontaneous periodic hypothermia,en,1,13024,98006,Rare neurologic disease,en,8780,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8781,30391,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391,en,Isolated biliary atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8781,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8740,320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320,en,Apparent mineralocorticoid excess,en,1,12996,97978,Rare endocrine disease,en,8740,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8741,724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=724,en,Idiopathic acute eosinophilic pneumonia,en,1,12974,97955,Rare respiratory disease,en,8741,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8743,230,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230,en,Dopamine beta-hydroxylase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,8743,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8736,725,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=725,en,Continuous spikes and waves during sleep,en,1,13024,98006,Rare neurologic disease,en,8736,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8737,590,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590,en,Congenital myasthenic syndrome,en,1,13024,98006,Rare neurologic disease,en,8737,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8738,404,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404,en,Familial hyperaldosteronism type II,en,1,12996,97978,Rare endocrine disease,en,8738,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8739,756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=756,en,Pseudohypoaldosteronism type 1,en,1,12456,93626,Rare renal disease,en,8739,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8748,162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162,en,Cataract-glaucoma syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,8748,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8750,545,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=545,en,Follicular lymphoma,en,1,19592,250908,Rare neoplastic disease,en,8750,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8751,88,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88,en,Idiopathic aplastic anemia,en,1,13010,97992,Rare hematologic disease,en,8751,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8744,102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102,en,Multiple system atrophy,en,1,13024,98006,Rare neurologic disease,en,8744,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8745,824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824,en,Primary myelofibrosis,en,1,19592,250908,Rare neoplastic disease,en,8745,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8747,729,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=729,en,Polycythemia vera,en,1,13010,97992,Rare hematologic disease,en,8747,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8756,25980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25980,en,X-linked myopathy with excessive autophagy,en,1,13024,98006,Rare neurologic disease,en,8756,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8759,26137,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26137,en,Juvenile temporal arteritis,en,1,13046,98028,Rare circulatory system disease,en,8759,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8758,26106,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26106,en,Hereditary diffuse gastric cancer,en,1,19592,250908,Rare neoplastic disease,en,8758,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26354,505395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505395,en,Ventilator-induced diaphragmatic dysfunction,en,1,12974,97955,Rare respiratory disease,en,26354,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8755,25968,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25968,en,Benign occipital epilepsy,en,1,13024,98006,Rare neurologic disease,en,8755,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8765,26790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26790,en,Pseudomyxoma peritonei,en,1,19592,250908,Rare neoplastic disease,en,8765,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8767,26792,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792,en,Short chain acyl-CoA dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,8767,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8766,26791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791,en,Multiple acyl-CoA dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,8766,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8761,26348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26348,en,Acquired prothrombin deficiency,en,1,13010,97992,Rare hematologic disease,en,8761,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8762,26349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26349,en,Protein S acquired deficiency,en,1,13010,97992,Rare hematologic disease,en,8762,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8711,831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=831,en,Congenital cervical spinal stenosis,en,1,13024,98006,Rare neurologic disease,en,8711,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8708,49,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49,en,Penile agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8708,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8709,227,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227,en,Diphallia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8709,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8707,674,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674,en,Accessory pancreas,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8707,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8705,386,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=386,en,Hepatic cystic hamartoma,en,1,10772,57146,Rare hepatic disease,en,8705,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8718,266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=266,en,Autosomal dominant limb-girdle muscular dystrophy type 1A,en,1,13024,98006,Rare neurologic disease,en,8718,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8716,353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353,en,Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5,en,1,13024,98006,Rare neurologic disease,en,8716,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8717,219,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219,en,Delta-sarcoglycan-related limb-girdle muscular dystrophy R6,en,1,13024,98006,Rare neurologic disease,en,8717,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8714,641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641,en,Multifocal motor neuropathy,en,1,13024,98006,Rare neurologic disease,en,8714,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8715,119,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119,en,Beta-sarcoglycan-related limb-girdle muscular dystrophy R4,en,1,13024,98006,Rare neurologic disease,en,8715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8727,603,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603,en,"Distal myopathy, Welander type",en,1,13024,98006,Rare neurologic disease,en,8727,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26326,505227,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505227,en,Combined immunodeficiency due to GINS1 deficiency,en,1,13022,98004,Rare immune disease,en,26326,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26327,505237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505237,en,Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26327,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8726,588,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588,en,Muscle-eye-brain disease,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8726,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8725,899,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899,en,Walker-Warburg syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8725,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26324,505216,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216,en,3-methylglutaconic aciduria type 9,en,1,13024,98006,Rare neurologic disease,en,26324,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8724,272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272,en,"Congenital muscular dystrophy, Fukuyama type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,8724,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26323,505208,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208,en,3-methylglutaconic aciduria type 8,en,1,13024,98006,Rare neurologic disease,en,26323,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8720,268,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268,en,Dysferlin-related limb-girdle muscular dystrophy R2,en,1,13024,98006,Rare neurologic disease,en,8720,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8731,600,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600,en,Vocal cord and pharyngeal distal myopathy,en,1,13024,98006,Rare neurologic disease,en,8731,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26330,505248,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248,en,Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26330,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8730,609,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=609,en,Tibial muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,8730,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8729,602,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602,en,GNE myopathy,en,1,13024,98006,Rare neurologic disease,en,8729,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26329,505242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242,en,Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,en,1,13024,98006,Rare neurologic disease,en,26329,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26544,508093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093,en,MEPAN syndrome,en,1,13024,98006,Rare neurologic disease,en,26544,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26576,508533,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533,en,Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,en,1,12333,93419,Rare bone disease,en,26576,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26578,508542,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542,en,Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26578,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26566,508410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508410,en,Familial intestinal malrotation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26566,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26573,508512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508512,en,Intrauterine growth restriction-congenital multiple caf-au-lait macules-increased sister chromatid exchange syndrome,en,1,11896,89826,Rare skin disease,en,26573,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26575,508529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529,en,Intermediate epidermolysis bullosa simplex with cardiomyopathy,en,1,11896,89826,Rare skin disease,en,26575,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26574,508523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523,en,Hyperphenylalaninemia due to DNAJC12 deficiency,en,1,13024,98006,Rare neurologic disease,en,26574,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26569,508488,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488,en,8q24.3 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26569,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26568,508476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476,en,Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26568,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26571,508501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501,en,Oral-facial-digital syndrome with short stature and brachymesophalangy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26571,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26570,508498,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498,en,Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26570,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26390,505652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652,en,CDKL5-deficiency disorder,en,1,13024,98006,Rare neurologic disease,en,26390,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26485,506784,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506784,en,Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome,en,1,11896,89826,Rare skin disease,en,26485,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26449,506334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334,en,Familial steroid-resistant nephrotic syndrome with adrenal insufficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,26449,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26448,506307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307,en,Stromme syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26448,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26451,506358,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358,en,Gabriele-de Vries syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26451,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26450,506353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353,en,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,en,1,13024,98006,Rare neurologic disease,en,26450,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26440,506136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506136,en,Neuroendocrine neoplasm of esophagus,en,1,19592,250908,Rare neoplastic disease,en,26440,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26436,506090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506090,en,Serotonin-producing neuroendocrine tumor of pancreas,en,1,19592,250908,Rare neoplastic disease,en,26436,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26437,506098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506098,en,Neuroendocrine carcinoma of pancreas,en,1,19592,250908,Rare neoplastic disease,en,26437,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26438,506112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506112,en,Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas,en,1,19592,250908,Rare neoplastic disease,en,26438,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26435,506075,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506075,en,Non-functioning neuroendocrine tumor of pancreas,en,1,19592,250908,Rare neoplastic disease,en,26435,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25773,495274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495274,en,Charcot-Marie-Tooth disease type 2T,en,1,13024,98006,Rare neurologic disease,en,25773,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25803,495844,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495844,en,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,en,1,13024,98006,Rare neurologic disease,en,25803,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25800,495818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818,en,9q33.3q34.11 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25800,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25805,495879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495879,en,Congenital agenesis of the scrotum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25805,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25804,495875,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875,en,Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25804,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25813,495930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495930,en,Familial monosomy 7 syndrome,en,1,19592,250908,Rare neoplastic disease,en,25813,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25835,496641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641,en,Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25835,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25841,496686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496686,en,Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,en,1,13024,98006,Rare neurologic disease,en,25841,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25842,496689,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496689,en,Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,en,1,13024,98006,Rare neurologic disease,en,25842,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25843,496693,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693,en,Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25843,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25846,496751,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751,en,EVEN-plus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25846,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25847,496756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756,en,Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,en,1,13024,98006,Rare neurologic disease,en,25847,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25849,496790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790,en,Ocular anomalies-axonal neuropathy-developmental delay syndrome,en,1,13024,98006,Rare neurologic disease,en,25849,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25674,494433,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433,en,MIRAGE syndrome,en,1,12996,97978,Rare endocrine disease,en,25674,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25675,494439,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439,en,Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25675,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25672,494424,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494424,en,Extracranial carotid artery aneurysm,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25672,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25673,494428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494428,en,Idiopathic pleuroparenchymal fibroelastosis,en,1,12974,97955,Rare respiratory disease,en,25673,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25678,494451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494451,en,Vulvar basal cell carcinoma,en,1,19592,250908,Rare neoplastic disease,en,25678,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25679,494454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494454,en,Vulvar adenocarcinoma,en,1,19592,250908,Rare neoplastic disease,en,25679,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25676,494444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444,en,DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,en,1,13054,98036,Rare otorhinolaryngologic disease,en,25676,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25677,494448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494448,en,Vulvar squamous cell carcinoma,en,1,19592,250908,Rare neoplastic disease,en,25677,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25667,494344,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344,en,RERE-related neurodevelopmental syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25667,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25670,494418,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494418,en,Vulvar carcinoma,en,1,19592,250908,Rare neoplastic disease,en,25670,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25671,494421,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494421,en,Sacrococcygeal teratoma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25671,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25683,494547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494547,en,Squamous cell carcinoma of the hypopharynx,en,1,19592,250908,Rare neoplastic disease,en,25683,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25682,494541,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494541,en,Childhood-onset benign chorea with striatal involvement,en,1,13024,98006,Rare neurologic disease,en,25682,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25681,494526,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494526,en,Infantile-onset generalized dyskinesia with orofacial involvement,en,1,13024,98006,Rare neurologic disease,en,25681,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25684,494550,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494550,en,Squamous cell carcinoma of the larynx,en,1,19592,250908,Rare neoplastic disease,en,25684,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26004,500180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180,en,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,en,1,13024,98006,Rare neurologic disease,en,26004,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26005,500188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188,en,X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,en,1,13054,98036,Rare otorhinolaryngologic disease,en,26005,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8535,68,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68,en,Amoebiasis due to free-living amoebae,en,1,10557,68416,Rare infectious disease,en,8535,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8529,781,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=781,en,Q fever,en,1,10557,68416,Rare infectious disease,en,8529,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26000,500150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150,en,Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26000,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26001,500159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500159,en,Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26001,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26002,500163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500163,en,Witteveen-Kolk syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26002,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8531,302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302,en,Epidermodysplasia verruciformis,en,1,11896,89826,Rare skin disease,en,8531,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8530,297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=297,en,Tick-borne encephalitis,en,1,10557,68416,Rare infectious disease,en,8530,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26003,500166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500166,en,SIN3A-related intellectual disability syndrome due to a point mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26003,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8541,182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182,en,Chromomycosis,en,1,10557,68416,Rare infectious disease,en,8541,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8540,128,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=128,en,Diphyllobothriasis,en,1,10557,68416,Rare infectious disease,en,8540,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8543,283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=283,en,Demodicidosis,en,1,10557,68416,Rare infectious disease,en,8543,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8542,210,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210,en,Cyclosporiasis,en,1,10557,68416,Rare infectious disease,en,8542,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8537,76,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=76,en,Strongyloidiasis,en,1,10557,68416,Rare infectious disease,en,8537,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8536,74,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=74,en,Angiostrongyliasis,en,1,10557,68416,Rare infectious disease,en,8536,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8539,108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108,en,Babesiosis,en,1,10557,68416,Rare infectious disease,en,8539,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8538,78,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=78,en,Ankylostomiasis,en,1,10557,68416,Rare infectious disease,en,8538,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25997,500135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135,en,Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25997,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25998,500144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144,en,Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25998,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25993,500055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500055,en,Hao-Fountain syndrome due to 16p13.2 microdeletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25993,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25995,500095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095,en,Tall stature-intellectual disability-renal anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25995,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25994,500062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500062,en,Infantile-onset periodic fever-panniculitis-dermatosis syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,25994,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8567,129,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=129,en,Pseudopelade of Brocq,en,1,11896,89826,Rare skin disease,en,8567,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8566,123,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123,en,Bjrnstad syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,8566,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8564,898,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=898,en,Wagner disease,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8564,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26034,500478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500478,en,Squamous cell carcinoma of the oropharynx,en,1,19592,250908,Rare neoplastic disease,en,26034,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8563,518,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=518,en,Acute megakaryoblastic leukemia,en,1,19592,250908,Rare neoplastic disease,en,8563,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26035,500481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500481,en,Squamous cell carcinoma of salivary glands,en,1,19592,250908,Rare neoplastic disease,en,26035,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8562,318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=318,en,Acute erythroid leukemia,en,1,19592,250908,Rare neoplastic disease,en,8562,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8561,514,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514,en,Acute monoblastic/monocytic leukemia,en,1,19592,250908,Rare neoplastic disease,en,8561,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8560,517,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=517,en,Acute myelomonocytic leukemia,en,1,19592,250908,Rare neoplastic disease,en,8560,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8575,505,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505,en,Graham Little-Piccardi-Lassueur syndrome,en,1,11896,89826,Rare skin disease,en,8575,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8574,346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=346,en,Quinquaud folliculitis decalvans,en,1,11896,89826,Rare skin disease,en,8574,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8573,222,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222,en,Erosive pustular dermatosis of the scalp,en,1,11896,89826,Rare skin disease,en,8573,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8572,202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202,en,Crandall syndrome,en,1,11896,89826,Rare skin disease,en,8572,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8571,170,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=170,en,Woolly hair,en,1,11896,89826,Rare skin disease,en,8571,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26042,500548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548,en,Osteosclerotic metaphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,26042,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8570,169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169,en,Ringed hair disease,en,1,11896,89826,Rare skin disease,en,8570,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26040,500533,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533,en,Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,en,1,13024,98006,Rare neurologic disease,en,26040,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8569,168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168,en,Loose anagen syndrome,en,1,11896,89826,Rare skin disease,en,8569,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26041,500545,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545,en,Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,en,1,13024,98006,Rare neurologic disease,en,26041,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8568,345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=345,en,Dissecting cellulitis of the scalp,en,1,11896,89826,Rare skin disease,en,8568,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8550,591,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=591,en,Furuncular myiasis,en,1,10557,68416,Rare infectious disease,en,8550,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8551,723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=723,en,Pneumocystosis,en,1,10557,68416,Rare infectious disease,en,8551,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8548,472,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=472,en,Isosporiasis,en,1,10557,68416,Rare infectious disease,en,8548,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8549,504,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504,en,Creeping myiasis,en,1,10557,68416,Rare infectious disease,en,8549,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8546,401,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401,en,Hymenolepiasis,en,1,10557,68416,Rare infectious disease,en,8546,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8544,390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=390,en,Histoplasmosis,en,1,10557,68416,Rare infectious disease,en,8544,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8545,400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400,en,Cystic echinococcosis,en,1,10557,68416,Rare infectious disease,en,8545,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26030,500464,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500464,en,Squamous cell carcinoma of the nasal cavity and paranasal sinuses,en,1,19592,250908,Rare neoplastic disease,en,26030,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8559,520,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520,en,Acute promyelocytic leukemia,en,1,19592,250908,Rare neoplastic disease,en,8559,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8554,529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529,en,Roch-Leri mesosomatous lipomatosis,en,1,11896,89826,Rare skin disease,en,8554,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8552,826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=826,en,Sporotrichosis,en,1,10557,68416,Rare infectious disease,en,8552,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8553,879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=879,en,Tungiasis,en,1,10557,68416,Rare infectious disease,en,8553,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26069,502305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502305,en,Cochleovestibular malformation,en,1,13054,98036,Rare otorhinolaryngologic disease,en,26069,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26072,502318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502318,en,Cochlear nerve deficiency,en,1,13054,98036,Rare otorhinolaryngologic disease,en,26072,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26073,502363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502363,en,Squamous cell carcinoma of the oral cavity,en,1,19592,250908,Rare neoplastic disease,en,26073,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26074,502366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502366,en,Squamous cell carcinoma of the lip,en,1,19592,250908,Rare neoplastic disease,en,26074,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26076,502423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423,en,Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26076,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26077,502430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430,en,Metopic ridging-ptosis-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26077,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26078,502434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502434,en,STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26078,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26079,502437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437,en,4q25 proximal deletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,26079,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26081,502499,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502499,en,Erythema multiforme major,en,1,11896,89826,Rare skin disease,en,26081,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26080,502444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502444,en,Alkaline ceramidase 3 deficiency,en,1,13024,98006,Rare neurologic disease,en,26080,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8668,432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432,en,Normosmic congenital hypogonadotropic hypogonadism,en,1,12996,97978,Rare endocrine disease,en,8668,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8670,91,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91,en,Aromatase deficiency,en,1,12996,97978,Rare endocrine disease,en,8670,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8671,785,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=785,en,Estrogen resistance syndrome,en,1,12996,97978,Rare endocrine disease,en,8671,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8665,873,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=873,en,Desmoid tumor,en,1,19592,250908,Rare neoplastic disease,en,8665,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8660,679,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=679,en,Malignant atrophic papulosis,en,1,11896,89826,Rare skin disease,en,8660,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8662,901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=901,en,Wells syndrome,en,1,11896,89826,Rare skin disease,en,8662,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8663,703,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=703,en,Bullous pemphigoid,en,1,11896,89826,Rare skin disease,en,8663,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8656,841,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=841,en,Sebocystomatosis,en,1,11896,89826,Rare skin disease,en,8656,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8659,867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=867,en,Familial multiple trichoepithelioma,en,1,11896,89826,Rare skin disease,en,8659,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8653,735,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=735,en,Porokeratosis of Mibelli,en,1,11896,89826,Rare skin disease,en,8653,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25868,497906,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497906,en,Childhood-onset basal ganglia degeneration syndrome,en,1,13024,98006,Rare neurologic disease,en,25868,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8652,659,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659,en,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,en,1,11896,89826,Rare skin disease,en,8652,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8655,737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737,en,Porokeratosis plantaris palmaris et disseminata,en,1,11896,89826,Rare skin disease,en,8655,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8649,523,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523,en,Hereditary leiomyomatosis and renal cell cancer,en,1,19592,250908,Rare neoplastic disease,en,8649,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25865,497737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497737,en,Epidermolytic nevus,en,1,11896,89826,Rare skin disease,en,25865,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8648,314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314,en,Erythroderma desquamativum,en,1,11896,89826,Rare skin disease,en,8648,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25866,497757,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497757,en,MME-related autosomal dominant Charcot Marie Tooth disease type 2,en,1,11896,89826,Rare skin disease,en,25866,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25867,497764,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497764,en,Spinocerebellar ataxia type 43,en,1,13024,98006,Rare neurologic disease,en,25867,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8650,530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530,en,Lipoid proteinosis,en,1,11896,89826,Rare skin disease,en,8650,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8645,493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493,en,Familial keratoacanthoma,en,1,11896,89826,Rare skin disease,en,8645,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25861,497188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497188,en,Diffuse intrinsic pontine glioma,en,1,19592,250908,Rare neoplastic disease,en,25861,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8640,454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454,en,Acquired ichthyosis,en,1,11896,89826,Rare skin disease,en,8640,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8702,490,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=490,en,Omphalomesenteric cyst,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8702,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8703,238,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238,en,Digestive duplication,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8703,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8700,617,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617,en,Congenital primary megaureter,en,1,14860,101433,Rare urogenital disease,en,8700,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8701,488,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488,en,Urachal cyst,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8701,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8698,105,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105,en,Atresia of urethra,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8698,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8699,237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237,en,Duplication of urethra,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8699,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8696,734,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=734,en,Alpha delta granule deficiency,en,1,13010,97992,Rare hematologic disease,en,8696,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8697,721,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=721,en,Gray platelet syndrome,en,1,13010,97992,Rare hematologic disease,en,8697,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8694,722,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722,en,Hypoplasminogenemia,en,1,13010,97992,Rare hematologic disease,en,8694,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8695,749,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=749,en,Congenital prekallikrein deficiency,en,1,13010,97992,Rare hematologic disease,en,8695,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8692,853,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=853,en,Fetal and neonatal alloimmune thrombocytopenia,en,1,13010,97992,Rare hematologic disease,en,8692,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8693,483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=483,en,Congenital high-molecular-weight kininogen deficiency,en,1,13010,97992,Rare hematologic disease,en,8693,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25908,498359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498359,en,Aquagenic palmoplantar keratoderma,en,1,11896,89826,Rare skin disease,en,25908,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8690,852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=852,en,X-linked thrombocytopenia with normal platelets,en,1,13010,97992,Rare hematologic disease,en,8690,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8691,465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465,en,Congenital plasminogen activator inhibitor type 1 deficiency,en,1,13010,97992,Rare hematologic disease,en,8691,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25902,498251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498251,en,Menstrual cycle-dependent periodic fever,en,1,12845,96344,Rare gynecologic or obstetric disease,en,25902,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8686,1332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1332,en,Medullary thyroid carcinoma,en,1,19592,250908,Rare neoplastic disease,en,8686,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8684,73,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73,en,Gorham-Stout disease,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8684,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25898,498228,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498228,en,Phyllodes tumor of the prostate,en,1,19592,250908,Rare neoplastic disease,en,25898,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8682,728,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=728,en,Relapsing polychondritis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,8682,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8676,142,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=142,en,Anaplastic thyroid carcinoma,en,1,19592,250908,Rare neoplastic disease,en,8676,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8675,143,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=143,en,Parathyroid carcinoma,en,1,19592,250908,Rare neoplastic disease,en,8675,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8672,786,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786,en,Generalized glucocorticoid resistance syndrome,en,1,12996,97978,Rare endocrine disease,en,8672,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8600,1676,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676,en,Idiopathic pulmonary artery dilatation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8600,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8601,1666,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1666,en,Dextrocardia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8601,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8602,1461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1461,en,Criss-cross heart,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8602,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8605,1205,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1205,en,Mitral atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8605,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8606,3192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192,en,Supravalvular pulmonary stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8606,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8607,875,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=875,en,Primary pediatric heart tumor,en,1,19592,250908,Rare neoplastic disease,en,8607,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25950,499085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499085,en,Chronic relapsing inflammatory optic neuropathy,en,1,12984,97966,Rare ophthalmic disorder,en,25950,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8592,334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=334,en,Familial atrial fibrillation,en,1,12948,97929,Rare cardiac disease,en,8592,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8593,615,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615,en,Familial atrial myxoma,en,1,12948,97929,Rare cardiac disease,en,8593,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8594,874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=874,en,Primary adult heart tumor,en,1,19592,250908,Rare neoplastic disease,en,8594,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25941,499009,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499009,en,Congenital syphilis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25941,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8597,1330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1330,en,Partial atrioventricular septal defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8597,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8599,1677,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1677,en,Familial idiopathic dilatation of the right atrium,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8599,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25928,498497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497,en,Short rib-polydactyly syndrome type 5,en,1,12333,93419,Rare bone disease,en,25928,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8585,720,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=720,en,Pili bifurcati,en,1,11896,89826,Rare skin disease,en,8585,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8587,864,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=864,en,Trichofolliculoma,en,1,11896,89826,Rare skin disease,en,8587,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25930,498602,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498602,en,Sugarman brachydactyly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25930,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25934,498693,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498693,en,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25934,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8577,444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444,en,Marie Unna hereditary hypotrichosis,en,1,11896,89826,Rare skin disease,en,8577,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8576,2221,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2221,en,Acquired hypertrichosis lanuginosa,en,1,11896,89826,Rare skin disease,en,8576,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25921,498474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474,en,Hyaline fibromatosis syndrome,en,1,12333,93419,Rare bone disease,en,25921,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8579,492,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=492,en,Proliferating trichilemmal cyst,en,1,11896,89826,Rare skin disease,en,8579,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25923,498481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498481,en,LRP5-related primary osteoporosis,en,1,12333,93419,Rare bone disease,en,25923,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8578,499,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499,en,Kerion celsi,en,1,11896,89826,Rare skin disease,en,8578,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25924,498485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498485,en,Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome,en,1,12333,93419,Rare bone disease,en,25924,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8581,573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573,en,Monilethrix,en,1,11896,89826,Rare skin disease,en,8581,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25925,498488,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488,en,Overgrowth syndrome with 2q37 translocation,en,1,12333,93419,Rare bone disease,en,25925,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8580,525,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525,en,Lichen planopilaris,en,1,11896,89826,Rare skin disease,en,8580,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8583,700,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700,en,Alopecia totalis,en,1,11896,89826,Rare skin disease,en,8583,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8582,840,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=840,en,Syringocystadenoma papilliferum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,8582,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25927,498494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494,en,Mirror-image polydactyly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25927,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8634,384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=384,en,Huriez syndrome,en,1,11896,89826,Rare skin disease,en,8634,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8632,315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315,en,Erythrokeratoderma ''en cocardes'',en,1,11896,89826,Rare skin disease,en,8632,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8638,409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=409,en,Hyperkeratosis lenticularis perstans,en,1,11896,89826,Rare skin disease,en,8638,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8626,41,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41,en,Dyschromatosis symmetrica hereditaria,en,1,11896,89826,Rare skin disease,en,8626,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8627,122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122,en,Birt-Hogg-Dub syndrome,en,1,19592,250908,Rare neoplastic disease,en,8627,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8624,38,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38,en,Acrokeratoelastoidosis of Costa,en,1,11896,89826,Rare skin disease,en,8624,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8625,39,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39,en,Acromelanosis,en,1,11896,89826,Rare skin disease,en,8625,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8630,241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=241,en,Dyschromatosis universalis hereditaria,en,1,11896,89826,Rare skin disease,en,8630,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8631,316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316,en,Progressive symmetric erythrokeratodermia,en,1,11896,89826,Rare skin disease,en,8631,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8629,211,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211,en,Familial cylindromatosis,en,1,11896,89826,Rare skin disease,en,8629,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8617,3282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3282,en,Multifocal atrial tachycardia,en,1,12948,97929,Rare cardiac disease,en,8617,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8616,188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=188,en,Systemic capillary leak syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,8616,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8621,3406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3406,en,Ulerythema ophryogenesis,en,1,11896,89826,Rare skin disease,en,8621,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25964,499182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499182,en,Pilomatrix carcinoma,en,1,11896,89826,Rare skin disease,en,25964,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8620,2908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908,en,Kindler epidermolysis bullosa,en,1,11896,89826,Rare skin disease,en,8620,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8611,81,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=81,en,Antisynthetase syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,8611,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25954,499107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499107,en,Idiopathic optic perineuritis,en,1,12984,97966,Rare ophthalmic disorder,en,25954,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8610,563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563,en,Peripartum cardiomyopathy,en,1,12948,97929,Rare cardiac disease,en,8610,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8609,764,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=764,en,Pyomyositis,en,1,10557,68416,Rare infectious disease,en,8609,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25952,499096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499096,en,Isolated optic neuritis,en,1,12984,97966,Rare ophthalmic disorder,en,25952,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8608,779,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779,en,Reynolds syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,8608,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25953,499103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499103,en,Recurrent idiopathic neuroretinitis,en,1,12984,97966,Rare ophthalmic disorder,en,25953,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8614,838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=838,en,Susac syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,8614,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8613,889,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=889,en,Cutaneous small vessel vasculitis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,8613,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,8612,482,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482,en,Kimura disease,en,1,13041,98023,Rare systemic or rheumatologic disease,en,8612,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25312,485426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485426,en,Isolated congenital hepatic fibrosis,en,1,10772,57146,Rare hepatic disease,en,25312,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25329,486811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486811,en,Prenatal-onset spinal muscular atrophy with congenital bone fractures,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25329,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25330,486815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486815,en,Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,en,1,13024,98006,Rare neurologic disease,en,25330,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25310,485418,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485418,en,EMILIN-1-related connective tissue disease,en,1,13024,98006,Rare neurologic disease,en,25310,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25311,485421,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421,en,MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,en,1,13024,98006,Rare neurologic disease,en,25311,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25309,485405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485405,en,16p12.1p12.3 triplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25309,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25306,485350,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485350,en,CLCN4-related X-linked intellectual disability syndrome,en,1,13024,98006,Rare neurologic disease,en,25306,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25307,485358,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358,en,Propylthiouracil embryofetopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25307,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25305,485275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275,en,Acquired schizencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25305,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25256,482606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482606,en,X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25256,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25255,482601,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482601,en,Adenylosuccinate synthetase-like 1-related distal myopathy,en,1,13024,98006,Rare neurologic disease,en,25255,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9800,31828,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31828,en,Digitalis poisoning,en,1,15031,108999,Rare disorder due to toxic effects,en,9800,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25224,480864,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864,en,Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,en,1,13024,98006,Rare neurologic disease,en,25224,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9801,31837,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31837,en,Pulmonary venoocclusive disease,en,1,12974,97955,Rare respiratory disease,en,9801,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25230,480907,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480907,en,X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25230,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25229,480898,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898,en,Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25229,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25228,480880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880,en,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25228,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25219,480556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480556,en,Isolated neonatal sclerosing cholangitis,en,1,10772,57146,Rare hepatic disease,en,25219,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25218,480553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480553,en,Aneurysmal bone cyst,en,1,12333,93419,Rare bone disease,en,25218,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25216,480541,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480541,en,High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement,en,1,19592,250908,Rare neoplastic disease,en,25216,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9793,31709,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709,en,Infantile convulsions and choreoathetosis,en,1,13024,98006,Rare neurologic disease,en,9793,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9798,31826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31826,en,Ethylene glycol poisoning,en,1,15031,108999,Rare disorder due to toxic effects,en,9798,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25223,480851,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851,en,Hereditary thrombocytopenia with early-onset myelofibrosis,en,1,13010,97992,Rare hematologic disease,en,25223,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9799,31827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31827,en,Paraquat poisoning,en,1,15031,108999,Rare disorder due to toxic effects,en,9799,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9796,31824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31824,en,Colchicine poisoning,en,1,15031,108999,Rare disorder due to toxic effects,en,9796,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25221,480701,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480701,en,Facial diplegia with paresthesias,en,1,13024,98006,Rare neurologic disease,en,25221,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25220,480682,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480682,en,POGLUT1-related limb-girdle muscular dystrophy R21,en,1,13024,98006,Rare neurologic disease,en,25220,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9797,31825,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31825,en,Methanol poisoning,en,1,15031,108999,Rare disorder due to toxic effects,en,9797,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25240,481665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481665,en,USP18 deficiency,en,1,13024,98006,Rare neurologic disease,en,25240,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25247,482077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482077,en,HTRA1-related autosomal dominant cerebral small vessel disease,en,1,13024,98006,Rare neurologic disease,en,25247,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25245,481986,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986,en,Familial schizencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25245,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25232,481152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152,en,PYCR2-related microcephaly-progressive leukoencephalopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25232,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25239,481662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662,en,Familial Chilblain lupus,en,1,11896,89826,Rare skin disease,en,25239,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25205,480476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476,en,Progressive familial intrahepatic cholestasis type 5,en,1,10772,57146,Rare hepatic disease,en,25205,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25207,480491,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480491,en,MYO5B-related progressive familial intrahepatic cholestasis,en,1,10772,57146,Rare hepatic disease,en,25207,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25206,480483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480483,en,Progressive familial intrahepatic cholestasis type 4,en,1,10772,57146,Rare hepatic disease,en,25206,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25213,480528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528,en,Lethal hydranencephaly-diaphragmatic hernia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25213,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25212,480524,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480524,en,Idiopathic peliosis hepatis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25212,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25215,480536,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536,en,MSH3-related attenuated familial adenomatous polyposis,en,1,12954,97935,Rare gastroenterologic disease,en,25215,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25214,480531,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531,en,Congenital portosystemic shunt,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25214,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25209,480506,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480506,en,Primary intrahepatic lithiasis,en,1,10772,57146,Rare hepatic disease,en,25209,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25208,480501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480501,en,Choledochal cyst,en,1,10772,57146,Rare hepatic disease,en,25208,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25211,480520,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480520,en,Caroli syndrome,en,1,10772,57146,Rare hepatic disease,en,25211,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25210,480512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480512,en,Idiopathic ductopenia,en,1,10772,57146,Rare hepatic disease,en,25210,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25159,477814,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814,en,Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25159,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25152,477781,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477781,en,Primary condylar hyperplasia,en,1,10468,68329,Rare maxillo-facial surgical disease,en,25152,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25153,477787,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787,en,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,en,1,13010,97992,Rare hematologic disease,en,25153,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25166,478029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029,en,Combined oxidative phosphorylation defect type 29,en,1,10507,68367,Rare inborn errors of metabolism,en,25166,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25167,478042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042,en,Combined oxidative phosphorylation defect type 30,en,1,10507,68367,Rare inborn errors of metabolism,en,25167,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25164,477993,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993,en,Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25164,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25162,477857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477857,en,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,en,1,13022,98004,Rare immune disease,en,25162,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25160,477817,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817,en,PMP22-RAI1 contiguous gene duplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25160,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25161,477831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477831,en,Kosaki overgrowth syndrome,en,1,12333,93419,Rare bone disease,en,25161,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25168,478049,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049,en,Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,25168,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25178,478664,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478664,en,Hereditary sensory and autonomic neuropathy type 8,en,1,13024,98006,Rare neurologic disease,en,25178,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25135,477650,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477650,en,Fibroblastic rheumatism,en,1,13041,98023,Rare systemic or rheumatologic disease,en,25135,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25136,477661,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661,en,IL21-related infantile inflammatory bowel disease,en,1,12954,97935,Rare gastroenterologic disease,en,25136,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25139,477684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477684,en,Combined oxidative phosphorylation defect type 26,en,1,10507,68367,Rare inborn errors of metabolism,en,25139,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25138,477673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477673,en,Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,en,1,13024,98006,Rare neurologic disease,en,25138,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25141,477738,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477738,en,Pediatric multiple sclerosis,en,1,13024,98006,Rare neurologic disease,en,25141,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25143,477749,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477749,en,Pontine autosomal dominant microangiopathy with leukoencephalopathy,en,1,13024,98006,Rare neurologic disease,en,25143,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25142,477742,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477742,en,Nodular fasciitis,en,1,11896,89826,Rare skin disease,en,25142,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25150,477774,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774,en,Combined oxidative phosphorylation defect type 27,en,1,10507,68367,Rare inborn errors of metabolism,en,25150,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25091,476119,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119,en,Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25091,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25089,476113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113,en,Combined immunodeficiency due to TFRC deficiency,en,1,13022,98004,Rare immune disease,en,25089,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25093,476126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476126,en,Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25093,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25102,476406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406,en,Congenital generalized hypercontractile muscle stiffness syndrome,en,1,13024,98006,Rare neurologic disease,en,25102,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25100,476394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476394,en,PMP2-related Charcot-Marie-Tooth disease type 1,en,1,13024,98006,Rare neurologic disease,en,25100,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25553,493342,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493342,en,Vibratory urticaria,en,1,11896,89826,Rare skin disease,en,25553,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25412,488642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642,en,TELO2-related intellectual disability-neurodevelopmental disorder,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25412,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25413,488647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488647,en,DDX41-related hematologic malignancy predisposition syndrome,en,1,13024,98006,Rare neurologic disease,en,25413,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25414,488650,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488650,en,"Distal myopathy, Tateyama type",en,1,13024,98006,Rare neurologic disease,en,25414,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25408,488618,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618,en,Transketolase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,25408,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25409,488627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627,en,Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25409,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25410,488632,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488632,en,TBCK-related intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25410,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25411,488635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635,en,Early-onset epilepsy-intellectual disability-brain anomalies syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,25411,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25395,488265,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488265,en,Osteofibrous dysplasia,en,1,12333,93419,Rare bone disease,en,25395,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25393,488239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488239,en,Acute macular neuroretinopathy,en,1,12984,97966,Rare ophthalmic disorder,en,25393,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25392,488232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232,en,Split-foot malformation-mesoaxial polydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25392,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25399,488333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488333,en,Autosomal dominant Charcot-Marie-Tooth disease type 2W,en,1,13024,98006,Rare neurologic disease,en,25399,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25397,488280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488280,en,14q32 duplication syndrome,en,1,19592,250908,Rare neoplastic disease,en,25397,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25403,488586,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488586,en,Congenital amyoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25403,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25401,488437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488437,en,SIX2-related frontonasal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25401,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25400,488434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434,en,"Camptodactyly syndrome, Guadalajara type 3",en,1,12469,93890,Rare developmental defect during embryogenesis,en,25400,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25407,488613,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488613,en,Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,en,1,13024,98006,Rare neurologic disease,en,25407,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25404,488594,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488594,en,Autosomal recessive spastic paraplegia type 76,en,1,13024,98006,Rare neurologic disease,en,25404,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25390,488197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197,en,Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,25390,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25388,488168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168,en,Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,25388,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25389,488191,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488191,en,Female infertility due to oocyte meiotic arrest,en,1,13065,98047,Rare infertility,en,25389,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25364,487796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796,en,Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome,en,1,13010,97992,Rare hematologic disease,en,25364,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25369,487814,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487814,en,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,en,1,13024,98006,Rare neurologic disease,en,25369,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25368,487809,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487809,en,Pediatric collagenous gastritis,en,1,12954,97935,Rare gastroenterologic disease,en,25368,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25371,487825,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487825,en,Pierpont syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,25371,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9294,31205,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31205,en,Rat-bite fever,en,1,10557,68416,Rare infectious disease,en,9294,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9293,31204,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31204,en,Nocardiosis,en,1,10557,68416,Rare infectious disease,en,9293,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9291,31202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31202,en,Melioidosis,en,1,10557,68416,Rare infectious disease,en,9291,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9288,31150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150,en,Tangier disease,en,1,12996,97978,Rare endocrine disease,en,9288,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9284,31043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043,en,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,en,1,12456,93626,Rare renal disease,en,9284,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9285,31112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112,en,Dermatofibrosarcoma protuberans,en,1,19592,250908,Rare neoplastic disease,en,9285,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9282,30924,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924,en,Primary hypomagnesemia with secondary hypocalcemia,en,1,12456,93626,Rare renal disease,en,9282,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,9283,30925,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30925,en,Hereditary central diabetes insipidus,en,1,12996,97978,Rare endocrine disease,en,9283,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25083,476084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476084,en,BVES-related limb-girdle muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,25083,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25086,476096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096,en,Erythrokeratodermia-cardiomyopathy syndrome,en,1,11896,89826,Rare skin disease,en,25086,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25087,476102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476102,en,Hereditary pediatric Behet-like disease,en,1,13041,98023,Rare systemic or rheumatologic disease,en,25087,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,25085,476093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093,en,Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,en,1,13024,98006,Rare neurologic disease,en,25085,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11000,71278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278,en,Congenital brain dysgenesis due to glutamine synthetase deficiency,en,1,13024,98006,Rare neurologic disease,en,11000,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11001,71279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71279,en,CANOMAD syndrome,en,1,13024,98006,Rare neurologic disease,en,11001,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10993,71271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271,en,Split hand-split foot-deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10993,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10994,71272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71272,en,Sandifer syndrome,en,1,13024,98006,Rare neurologic disease,en,10994,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10995,71273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71273,en,Renal nutcracker syndrome,en,1,12456,93626,Rare renal disease,en,10995,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10996,71274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71274,en,Disseminated peritoneal leiomyomatosis,en,1,19592,250908,Rare neoplastic disease,en,10996,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10997,71275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71275,en,Rh deficiency syndrome,en,1,13010,97992,Rare hematologic disease,en,10997,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10998,71276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71276,en,Silent sinus syndrome,en,1,13054,98036,Rare otorhinolaryngologic disease,en,10998,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10999,71277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277,en,Classic glucose transporter type 1 deficiency syndrome,en,1,13024,98006,Rare neurologic disease,en,10999,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10987,71212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212,en,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,10987,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10986,71211,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71211,en,Neuromyelitis optica spectrum disorder,en,1,13024,98006,Rare neurologic disease,en,10986,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10989,71267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267,en,Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10989,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10988,71213,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213,en,Retinal capillary malformation,en,1,12984,97966,Rare ophthalmic disorder,en,10988,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28179,558411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558411,en,Idiopathic gastroparesis,en,1,12954,97935,Rare gastroenterologic disease,en,28179,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10962,70591,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70591,en,Chronic thromboembolic pulmonary hypertension,en,1,12974,97955,Rare respiratory disease,en,10962,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10963,70592,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70592,en,Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency,en,1,13022,98004,Rare immune disease,en,10963,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10960,70589,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70589,en,Bronchopulmonary dysplasia,en,1,12974,97955,Rare respiratory disease,en,10960,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10961,70590,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70590,en,Infantile apnea,en,1,12974,97955,Rare respiratory disease,en,10961,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10966,70595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595,en,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,en,1,13024,98006,Rare neurologic disease,en,10966,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10967,70596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70596,en,Congenital Epstein-Barr virus infection,en,1,10557,68416,Rare infectious disease,en,10967,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10964,70593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70593,en,Immunodeficiency due to selective anti-polysaccharide antibody deficiency,en,1,13022,98004,Rare immune disease,en,10964,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10965,70594,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594,en,Dopa-responsive dystonia due to sepiapterin reductase deficiency,en,1,13024,98006,Rare neurologic disease,en,10965,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10954,70578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70578,en,Adult acute respiratory distress syndrome,en,1,12974,97955,Rare respiratory disease,en,10954,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10953,70573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70573,en,Small cell lung cancer,en,1,19592,250908,Rare neoplastic disease,en,10953,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10952,70568,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568,en,Post-transplant lymphoproliferative disease,en,1,19592,250908,Rare neoplastic disease,en,10952,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10959,70588,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70588,en,Meconium aspiration syndrome,en,1,12974,97955,Rare respiratory disease,en,10959,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10958,70587,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70587,en,Infant acute respiratory distress syndrome,en,1,12974,97955,Rare respiratory disease,en,10958,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10945,70472,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472,en,"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",en,1,10507,68367,Rare inborn errors of metabolism,en,10945,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10951,70567,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70567,en,Cholangiocarcinoma,en,1,19592,250908,Rare neoplastic disease,en,10951,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10949,70476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70476,en,Vernal keratoconjunctivitis,en,1,12984,97966,Rare ophthalmic disorder,en,10949,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10948,70475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70475,en,Radiation proctitis,en,1,12954,97935,Rare gastroenterologic disease,en,10948,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10941,69744,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69744,en,Circumscribed palmoplantar hypokeratosis,en,1,11896,89826,Rare skin disease,en,10941,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10942,69745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69745,en,Warty dyskeratoma,en,1,11896,89826,Rare skin disease,en,10942,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10936,69735,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735,en,Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,en,1,11896,89826,Rare skin disease,en,10936,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10937,69736,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69736,en,Bilateral acute depigmentation of the iris,en,1,12984,97966,Rare ophthalmic disorder,en,10937,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10938,69737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737,en,Bosley-Salih-Alorainy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10938,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10939,69739,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739,en,Athabaskan brainstem dysgenesis syndrome,en,1,13024,98006,Rare neurologic disease,en,10939,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10932,69663,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69663,en,Low phospholipid-associated cholelithiasis,en,1,10772,57146,Rare hepatic disease,en,10932,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10933,69665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69665,en,Intrahepatic cholestasis of pregnancy,en,1,10772,57146,Rare hepatic disease,en,10933,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10935,69723,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69723,en,Tyrosinemia type 3,en,1,10507,68367,Rare inborn errors of metabolism,en,10935,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10924,69126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69126,en,PAPA syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10924,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10921,69087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087,en,Naegeli-Franceschetti-Jadassohn syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10921,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10923,69125,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125,en,Anonychia with flexural pigmentation,en,1,11896,89826,Rare skin disease,en,10923,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10922,69088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088,en,Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10922,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10917,69083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083,en,"Ectodermal dysplasia with natal teeth, Turnpenny type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,10917,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10916,69082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082,en,Odonto-tricho-ungual-digito-palmar syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10916,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10919,69085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085,en,Limb-mammary syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10919,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10918,69084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69084,en,Pure hair and nail ectodermal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10918,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10913,69077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69077,en,Rhabdoid tumor,en,1,19592,250908,Rare neoplastic disease,en,10913,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10912,69076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076,en,Familial renal glucosuria,en,1,12456,93626,Rare renal disease,en,10912,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10914,69078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69078,en,Liposarcoma,en,1,19592,250908,Rare neoplastic disease,en,10914,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10910,69061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69061,en,Idiopathic steroid-sensitive nephrotic syndrome,en,1,12456,93626,Rare renal disease,en,10910,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10911,69063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69063,en,Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,en,1,12456,93626,Rare renal disease,en,10911,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10908,67048,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67048,en,3-methylglutaconic aciduria type 4,en,1,10507,68367,Rare inborn errors of metabolism,en,10908,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10906,67046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046,en,3-methylglutaconic aciduria type 1,en,1,10507,68367,Rare inborn errors of metabolism,en,10906,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10907,67047,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047,en,3-methylglutaconic aciduria type 3,en,1,10507,68367,Rare inborn errors of metabolism,en,10907,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10904,67044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044,en,Thrombocytopenia with congenital dyserythropoietic anemia,en,1,13010,97992,Rare hematologic disease,en,10904,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10905,67045,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045,en,X-linked intellectual disability with isolated growth hormone deficiency,en,1,12996,97978,Rare endocrine disease,en,10905,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10902,67042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67042,en,Late-onset retinal degeneration,en,1,12984,97966,Rare ophthalmic disorder,en,10902,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10903,67043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67043,en,Amoebic keratitis,en,1,10557,68416,Rare infectious disease,en,10903,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10900,67039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67039,en,Segmental odontomaxillary dysplasia,en,1,13044,98026,Rare odontologic disease,en,10900,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10901,67041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041,en,Hyaluronidase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,10901,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10899,67038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67038,en,B-cell chronic lymphocytic leukemia,en,1,19592,250908,Rare neoplastic disease,en,10899,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10896,66662,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66662,en,Extracutaneous mastocytoma,en,1,19592,250908,Rare neoplastic disease,en,10896,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10897,67036,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036,en,Autosomal dominant optic atrophy and cataract,en,1,12984,97966,Rare ophthalmic disorder,en,10897,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10895,66661,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66661,en,Mast cell sarcoma,en,1,19592,250908,Rare neoplastic disease,en,10895,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10893,66637,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637,en,Diaphanospondylodysostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10893,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10892,66634,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634,en,Dilated cardiomyopathy with ataxia,en,1,10507,68367,Rare inborn errors of metabolism,en,10892,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10891,66633,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633,en,Sensorineural hearing loss-early graying-essential tremor syndrome,en,1,13054,98036,Rare otorhinolaryngologic disease,en,10891,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10889,66631,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631,en,CEDNIK syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10889,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10888,66630,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66630,en,Congenital pseudoarthrosis of the clavicle,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10888,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10887,66629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629,en,Goldberg-Shprintzen megacolon syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10887,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10886,66628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628,en,Obesity due to congenital leptin deficiency,en,1,12996,97978,Rare endocrine disease,en,10886,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10885,66627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66627,en,Tenosynovial giant cell tumor,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10885,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10884,66625,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625,en,Cerebrooculonasal syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10884,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10883,66624,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66624,en,PANDAS,en,1,13024,98006,Rare neurologic disease,en,10883,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10882,66529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66529,en,Tako-Tsubo cardiomyopathy,en,1,12948,97929,Rare cardiac disease,en,10882,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10881,66518,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66518,en,Short fifth metacarpals-insulin resistance syndrome,en,1,12996,97978,Rare endocrine disease,en,10881,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10880,65798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65798,en,Goodman syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10880,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10865,65283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283,en,Timothy syndrome,en,1,12948,97929,Rare cardiac disease,en,10865,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10864,65282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282,en,Carvajal syndrome,en,1,12948,97929,Rare cardiac disease,en,10864,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28337,562639,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562639,en,Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,en,1,10772,57146,Rare hepatic disease,en,28337,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10867,65285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285,en,Lhermitte-Duclos disease,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10867,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10866,65284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284,en,Biotin-thiamine-responsive basal ganglia disease,en,1,13024,98006,Rare neurologic disease,en,10866,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10869,65287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287,en,Beta-ureidopropionase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,10869,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10868,65286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65286,en,3q29 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10868,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10871,65681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681,en,Vaginal atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10871,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10870,65288,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288,en,Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,en,1,13024,98006,Rare neurologic disease,en,10870,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10873,65683,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65683,en,Isolated focal cortical dysplasia,en,1,13024,98006,Rare neurologic disease,en,10873,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10872,65682,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682,en,Benign recurrent intrahepatic cholestasis,en,1,10772,57146,Rare hepatic disease,en,10872,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10875,65720,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65720,en,Arthrogryposis-severe scoliosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10875,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10874,65684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65684,en,Monomelic amyotrophy,en,1,13024,98006,Rare neurologic disease,en,10874,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10877,65748,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748,en,Multiple self-healing squamous epithelioma,en,1,11896,89826,Rare skin disease,en,10877,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10876,65743,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743,en,Autosomal dominant multiple pterygium syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10876,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10879,65759,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759,en,Carpenter syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10879,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10848,64744,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64744,en,IgG4-related thyroid disease,en,1,12996,97978,Rare endocrine disease,en,10848,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10849,64745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64745,en,Pruritic urticarial papules and plaques of pregnancy,en,1,11896,89826,Rare skin disease,en,10849,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10852,64748,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64748,en,Dejerine-Sottas syndrome,en,1,13024,98006,Rare neurologic disease,en,10852,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10855,64751,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64751,en,Hereditary motor and sensory neuropathy type 5,en,1,13024,98006,Rare neurologic disease,en,10855,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28329,562509,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562509,en,Heme oxygenase-1 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,28329,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10856,64752,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64752,en,Hereditary sensory and autonomic neuropathy type 5,en,1,13024,98006,Rare neurologic disease,en,10856,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10857,64753,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753,en,Spinocerebellar ataxia with axonal neuropathy type 2,en,1,13024,98006,Rare neurologic disease,en,10857,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10858,64754,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754,en,Nevus comedonicus syndrome,en,1,11896,89826,Rare skin disease,en,10858,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28331,562528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528,en,Congenital limbs-face contractures-hypotonia-developmental delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28331,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10859,64755,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755,en,Becker nevus syndrome,en,1,11896,89826,Rare skin disease,en,10859,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28333,562559,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559,en,Anterior maxillary protrusion-strabismus-intellectual disability syndrome,en,1,13024,98006,Rare neurologic disease,en,28333,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28332,562538,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562538,en,Autosomal recessive extra-oral halitosis,en,1,10507,68367,Rare inborn errors of metabolism,en,28332,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10862,65250,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65250,en,Perineural cyst,en,1,13024,98006,Rare neurologic disease,en,10862,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28334,562569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569,en,TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28334,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10835,64686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64686,en,Tolosa-Hunt syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,10835,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10834,64545,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64545,en,Benign idiopathic neonatal seizures,en,1,13024,98006,Rare neurologic disease,en,10834,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10833,64542,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64542,en,"Acrofacial dysostosis, Kennedy-Teebi type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,10833,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10832,64280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280,en,Childhood absence epilepsy,en,1,13024,98006,Rare neurologic disease,en,10832,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10839,64722,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64722,en,Granulomatous mastitis,en,1,12845,96344,Rare gynecologic or obstetric disease,en,10839,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10838,64720,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64720,en,Leiomyosarcoma,en,1,19592,250908,Rare neoplastic disease,en,10838,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10837,64694,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64694,en,Trench fever,en,1,10557,68416,Rare infectious disease,en,10837,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10836,64692,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64692,en,Oroya fever,en,1,10557,68416,Rare infectious disease,en,10836,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10843,64739,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64739,en,Ovarian hyperstimulation syndrome,en,1,12845,96344,Rare gynecologic or obstetric disease,en,10843,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10841,64734,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64734,en,Iridocorneal endothelial syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,10841,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10847,64743,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64743,en,Hepatoportal sclerosis,en,1,10772,57146,Rare hepatic disease,en,10847,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10846,64742,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64742,en,Pleuropulmonary blastoma,en,1,19592,250908,Rare neoplastic disease,en,10846,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10845,64741,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64741,en,Pulmonary blastoma,en,1,19592,250908,Rare neoplastic disease,en,10845,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28316,561854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561854,en,FOXG1 syndrome,en,1,13024,98006,Rare neurologic disease,en,28316,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10819,63269,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269,en,Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10819,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10816,63259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63259,en,Iniencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10816,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10817,63260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63260,en,Craniorachischisis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10817,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10823,63442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442,en,Angel-shaped phalango-epiphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,10823,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10820,63273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63273,en,Distal myopathy with posterior leg and anterior hand involvement,en,1,13024,98006,Rare neurologic disease,en,10820,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10821,63275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63275,en,Pemphigoid gestationis,en,1,11896,89826,Rare skin disease,en,10821,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10827,63455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63455,en,Paraneoplastic pemphigus,en,1,11896,89826,Rare skin disease,en,10827,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10825,63446,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446,en,Acrocapitofemoral dysplasia,en,1,12333,93419,Rare bone disease,en,10825,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10831,63999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63999,en,IgG4-related mediastinitis,en,1,12974,97955,Rare respiratory disease,en,10831,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10829,63862,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63862,en,Schisis association,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10829,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10805,60040,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040,en,Megalencephaly-capillary malformation-polymicrogyria syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10805,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10804,60039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60039,en,Pudendal neuralgia,en,1,13024,98006,Rare neurologic disease,en,10804,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10806,60041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60041,en,Congenital heart block,en,1,12948,97929,Rare cardiac disease,en,10806,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10801,60032,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60032,en,Recurrent respiratory papillomatosis,en,1,12974,97955,Rare respiratory disease,en,10801,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10802,60033,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60033,en,Idiopathic bronchiectasis,en,1,12974,97955,Rare respiratory disease,en,10802,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10788,59303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303,en,Neonatal ichthyosis-sclerosing cholangitis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10788,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28391,563954,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563954,en,Isolated congenital hypoglossia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28391,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28390,563951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563951,en,Isolated congenital aglossia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28390,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10791,59306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306,en,McLeod neuroacanthocytosis syndrome,en,1,13024,98006,Rare neurologic disease,en,10791,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10785,59298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59298,en,Schilder disease,en,1,13024,98006,Rare neurologic disease,en,10785,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10796,60015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015,en,Enlarged parietal foramina,en,1,12333,93419,Rare bone disease,en,10796,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28397,564003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564003,en,Osteochondrosis of the metatarsal bone,en,1,12333,93419,Rare bone disease,en,28397,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10797,60025,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60025,en,Pulmonary alveolar microlithiasis,en,1,12974,97955,Rare respiratory disease,en,10797,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28396,563991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563991,en,Osteochondrosis of the tarsal bone,en,1,12333,93419,Rare bone disease,en,28396,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10798,60026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60026,en,Pulmonary nodular lymphoid hyperplasia,en,1,12974,97955,Rare respiratory disease,en,10798,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28399,564178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178,en,Primary hypomagnesemia-refractory seizures-intellectual disability syndrome,en,1,12456,93626,Rare renal disease,en,28399,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10799,60030,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030,en,Loeys-Dietz syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10799,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10792,59315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59315,en,Rhombencephalosynapsis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10792,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10795,60014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60014,en,Argyria,en,1,15031,108999,Rare disorder due to toxic effects,en,10795,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10775,57777,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57777,en,Cirrhotic cardiomyopathy,en,1,12948,97929,Rare cardiac disease,en,10775,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10774,57196,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57196,en,Medial condensing osteitis of the clavicle,en,1,12333,93419,Rare bone disease,en,10774,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28372,563690,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563690,en,Furuncular myiasis due to Cordylobia rodhaini,en,1,10557,68416,Rare infectious disease,en,28372,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28373,563708,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708,en,Syndromic congenital sodium diarrhea,en,1,12954,97935,Rare gastroenterologic disease,en,28373,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10771,57145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57145,en,SUNCT syndrome,en,1,13024,98006,Rare neurologic disease,en,10771,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28370,563684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563684,en,Furuncular myiasis due to Dermatobia hominis,en,1,10557,68416,Rare infectious disease,en,28370,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28371,563687,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563687,en,Furuncular myiasis due to Cordylobia anthropophaga,en,1,10557,68416,Rare infectious disease,en,28371,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28368,563671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563671,en,Mucinous cystadenoma of childhood,en,1,19592,250908,Rare neoplastic disease,en,28368,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10768,56425,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56425,en,Cold agglutinin disease,en,1,13010,97992,Rare hematologic disease,en,10768,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28369,563676,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563676,en,Seromucinous cystadenoma of childhood,en,1,19592,250908,Rare neoplastic disease,en,28369,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10783,59181,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181,en,Sorsby pseudoinflammatory fundus dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,10783,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10782,59135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59135,en,Laing early-onset distal myopathy,en,1,13024,98006,Rare neurologic disease,en,10782,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10779,58040,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58040,en,Osteoblastoma,en,1,19592,250908,Rare neoplastic disease,en,10779,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10778,58017,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58017,en,Classic hairy cell leukemia,en,1,19592,250908,Rare neoplastic disease,en,10778,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10777,57782,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57782,en,Mazabraud syndrome,en,1,12333,93419,Rare bone disease,en,10777,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10758,55595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55595,en,TNP03-related limb-girdle muscular dystrophy D2,en,1,13024,98006,Rare neurologic disease,en,10758,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10759,55596,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55596,en,HNRNPDL-related limb-girdle muscular dystrophy D3,en,1,13024,98006,Rare neurologic disease,en,10759,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10756,54595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595,en,Craniopharyngioma,en,1,12996,97978,Rare endocrine disease,en,10756,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10754,54368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54368,en,Sarcocystosis,en,1,10557,68416,Rare infectious disease,en,10754,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10755,54370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54370,en,Primary membranoproliferative glomerulonephritis,en,1,12456,93626,Rare renal disease,en,10755,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10752,54272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54272,en,Hepatocellular adenoma,en,1,19592,250908,Rare neoplastic disease,en,10752,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10766,56304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304,en,Atelosteogenesis type II,en,1,12333,93419,Rare bone disease,en,10766,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28367,563666,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563666,en,Serous cystadenoma of childhood,en,1,19592,250908,Rare neoplastic disease,en,28367,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10767,56305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305,en,Atelosteogenesis type III,en,1,12333,93419,Rare bone disease,en,10767,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28366,563612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563612,en,Isolated exencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28366,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28365,563609,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563609,en,Isolated anencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28365,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28364,563589,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563589,en,Seronegative autoimmune hepatitis,en,1,10772,57146,Rare hepatic disease,en,28364,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10762,55880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55880,en,Chondrosarcoma,en,1,19592,250908,Rare neoplastic disease,en,10762,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28363,563581,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563581,en,Autoimmune hepatitis type 2,en,1,10772,57146,Rare hepatic disease,en,28363,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10763,55881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55881,en,Adamantinoma,en,1,19592,250908,Rare neoplastic disease,en,10763,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28362,563576,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563576,en,Autoimmune hepatitis type 1,en,1,10772,57146,Rare hepatic disease,en,28362,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10760,55654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55654,en,Hypotrichosis simplex,en,1,11896,89826,Rare skin disease,en,10760,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10761,55655,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55655,en,Pneumococcal meningitis,en,1,10557,68416,Rare infectious disease,en,10761,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28450,565837,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565837,en,Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23,en,1,13024,98006,Rare neurologic disease,en,28450,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28451,565858,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858,en,Craniosynostosis-microretrognathia-severe intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28451,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28448,565788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565788,en,Infantile inflammatory bowel disease with neurological involvement,en,1,12954,97935,Rare gastroenterologic disease,en,28448,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28452,565899,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565899,en,POMGNT2-related limb-girdle muscular dystrophy R24,en,1,13024,98006,Rare neurologic disease,en,28452,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28453,565909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565909,en,Calpain-3-related limb-girdle muscular dystrophy D4,en,1,13024,98006,Rare neurologic disease,en,28453,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11259,79233,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233,en,Hypoxanthine guanine phosphoribosyltransferase partial deficiency,en,1,12456,93626,Rare renal disease,en,11259,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11256,79230,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230,en,HJV or HAMP-related hemochromatosis,en,1,10507,68367,Rare inborn errors of metabolism,en,11256,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11263,79237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237,en,Galactokinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11263,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28477,566067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566067,en,CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,28477,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11260,79234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234,en,Crigler-Najjar syndrome type 1,en,1,10772,57146,Rare hepatic disease,en,11260,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11261,79235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235,en,Crigler-Najjar syndrome type 2,en,1,10772,57146,Rare hepatic disease,en,11261,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28443,565624,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624,en,Combined oxidative phosphorylation defect type 39,en,1,13024,98006,Rare neurologic disease,en,28443,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28442,565612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612,en,Primary triglyceride deposit cardiomyovasculopathy,en,1,12948,97929,Rare cardiac disease,en,28442,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28444,565641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565641,en,Primary desmosis coli,en,1,12954,97935,Rare gastroenterologic disease,en,28444,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28446,565782,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565782,en,Methotrexate toxicity,en,1,15031,108999,Rare disorder due to toxic effects,en,28446,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11183,79157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157,en,2-methylbutyryl-CoA dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11183,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11182,79156,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156,en,Seizures-intellectual disability due to hydroxylysinuria syndrome,en,1,13024,98006,Rare neurologic disease,en,11182,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11181,79155,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155,en,Hydroxykynureninuria,en,1,13024,98006,Rare neurologic disease,en,11181,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11180,79154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154,en,2-aminoadipic 2-oxoadipic aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,11180,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11179,79153,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79153,en,Idiopathic trachyonychia,en,1,11896,89826,Rare skin disease,en,11179,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11178,79152,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152,en,Disseminated superficial actinic porokeratosis,en,1,11896,89826,Rare skin disease,en,11178,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11177,79151,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79151,en,Acrokeratosis verruciformis of Hopf,en,1,11896,89826,Rare skin disease,en,11177,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11176,79150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79150,en,Linear and whorled nevoid hypermelanosis,en,1,11896,89826,Rare skin disease,en,11176,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11175,79149,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79149,en,Dermochondrocorneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,11175,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11174,79148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79148,en,Elastosis perforans serpiginosa,en,1,11896,89826,Rare skin disease,en,11174,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11173,79147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79147,en,Familial reactive perforating collagenosis,en,1,11896,89826,Rare skin disease,en,11173,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11172,79146,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79146,en,Familial progressive hyperpigmentation,en,1,11896,89826,Rare skin disease,en,11172,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11171,79145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145,en,Dowling-Degos disease,en,1,11896,89826,Rare skin disease,en,11171,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11170,79144,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79144,en,Isolated congenital onychodysplasia,en,1,11896,89826,Rare skin disease,en,11170,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11169,79143,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79143,en,Isolated congenital anonychia,en,1,11896,89826,Rare skin disease,en,11169,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11185,79159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159,en,Isobutyryl-CoA dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11185,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11149,79107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107,en,Developmental malformations-deafness-dystonia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11149,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28493,566231,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566231,en,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,en,1,12996,97978,Rare endocrine disease,en,28493,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11148,79106,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106,en,Eiken syndrome,en,1,12333,93419,Rare bone disease,en,11148,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28494,566243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566243,en,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,en,1,12996,97978,Rare endocrine disease,en,28494,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11151,79118,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79118,en,Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,en,1,12996,97978,Rare endocrine disease,en,11151,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28495,566393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566393,en,Acute mast cell leukemia,en,1,19592,250908,Rare neoplastic disease,en,28495,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11150,79113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113,en,Mandibulofacial dysostosis-microcephaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11150,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11144,79102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79102,en,Thyrotoxic periodic paralysis,en,1,13024,98006,Rare neurologic disease,en,11144,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11147,79105,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79105,en,Myxofibrosarcoma,en,1,19592,250908,Rare neoplastic disease,en,11147,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11141,79099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79099,en,Interstitial granulomatous dermatitis with arthritis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11141,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11140,79098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79098,en,Sympathetic ophthalmia,en,1,12984,97966,Rare ophthalmic disorder,en,11140,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11143,79101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101,en,Hyperprolinemia type 2,en,1,10507,68367,Rare inborn errors of metabolism,en,11143,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28487,566192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566192,en,Congenital autosomal recessive small-platelet thrombocytopenia,en,1,13010,97992,Rare hematologic disease,en,28487,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11142,79100,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79100,en,Atrophoderma vermiculata,en,1,11896,89826,Rare skin disease,en,11142,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11137,79095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095,en,Congenital bile acid synthesis defect type 4,en,1,10772,57146,Rare hepatic disease,en,11137,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11136,79094,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094,en,Grange syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11136,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28482,566175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566175,en,Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,28482,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11139,79097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097,en,Folinic acid-responsive seizures,en,1,13024,98006,Rare neurologic disease,en,11139,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11138,79096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096,en,Pyridoxal phosphate-responsive seizures,en,1,13024,98006,Rare neurologic disease,en,11138,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11164,79138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79138,en,Bickerstaff brainstem encephalitis,en,1,13024,98006,Rare neurologic disease,en,11164,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11165,79139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79139,en,Japanese encephalitis,en,1,10557,68416,Rare infectious disease,en,11165,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11166,79140,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79140,en,Cutaneous neuroendocrine carcinoma,en,1,19592,250908,Rare neoplastic disease,en,11166,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11167,79141,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79141,en,Hereditary painful callosities,en,1,11896,89826,Rare skin disease,en,11167,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11160,79134,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134,en,DEND syndrome,en,1,12996,97978,Rare endocrine disease,en,11160,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11161,79135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79135,en,Episodic ataxia type 3,en,1,13024,98006,Rare neurologic disease,en,11161,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11162,79136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79136,en,Episodic ataxia type 4,en,1,13024,98006,Rare neurologic disease,en,11162,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11163,79137,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137,en,Generalized epilepsy-paroxysmal dyskinesia syndrome,en,1,13024,98006,Rare neurologic disease,en,11163,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11156,79129,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129,en,Trichodysplasia-amelogenesis imperfecta syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11156,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11159,79133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79133,en,Focal facial dermal dysplasia type I,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11159,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11152,79124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79124,en,Hepatic veno-occlusive disease-immunodeficiency syndrome,en,1,13022,98004,Rare immune disease,en,11152,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28496,566396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566396,en,Chronic mast cell leukemia,en,1,19592,250908,Rare neoplastic disease,en,28496,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11153,79126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79126,en,Acute interstitial pneumonia,en,1,12974,97955,Rare respiratory disease,en,11153,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11154,79127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79127,en,Respiratory bronchiolitis-interstitial lung disease syndrome,en,1,12974,97955,Rare respiratory disease,en,11154,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11155,79128,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79128,en,Lymphoid interstitial pneumonia,en,1,12974,97955,Rare respiratory disease,en,11155,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11106,77293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293,en,Chronic visceral acid sphingomyelinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11106,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11107,77295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77295,en,Odontoleukodystrophy,en,1,13024,98006,Rare neurologic disease,en,11107,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11104,77261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261,en,Gaucher disease type 3,en,1,10507,68367,Rare inborn errors of metabolism,en,11104,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11105,77292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292,en,Infantile neurovisceral acid sphingomyelinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11105,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11110,77298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298,en,Anophthalmia/microphthalmia-esophageal atresia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11110,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11111,77299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299,en,Microphthalmia-brain atrophy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11111,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11108,77296,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77296,en,Morgagni-Stewart-Morel syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11108,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11109,77297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297,en,Majeed syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11109,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28585,567502,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502,en,B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28585,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11112,77300,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77300,en,Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11112,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11113,77301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77301,en,Monosomy 9q22.3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11113,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28591,567550,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567550,en,Idiopathic multidrug-resistant nephrotic syndrome,en,1,12456,93626,Rare renal disease,en,28591,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28590,567548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567548,en,Idiopathic steroid-resistant nephrotic syndrome,en,1,12456,93626,Rare renal disease,en,28590,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28589,567546,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567546,en,Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance,en,1,12456,93626,Rare renal disease,en,28589,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28588,567544,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567544,en,Idiopathic non-lupus full-house nephropathy,en,1,12456,93626,Rare renal disease,en,28588,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28592,567552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567552,en,Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy,en,1,12456,93626,Rare renal disease,en,28592,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11127,79083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79083,en,PPARG-related familial partial lipodystrophy,en,1,12996,97978,Rare endocrine disease,en,11127,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11126,79078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79078,en,IgG4-related dacryoadenitis and sialadenitis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11126,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11125,79076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076,en,Juvenile polyposis of infancy,en,1,12954,97935,Rare gastroenterologic disease,en,11125,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11131,79087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79087,en,Acquired partial lipodystrophy,en,1,12996,97978,Rare endocrine disease,en,11131,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11130,79086,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79086,en,Acquired generalized lipodystrophy,en,1,12996,97978,Rare endocrine disease,en,11130,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11129,79085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79085,en,AKT2-related familial partial lipodystrophy,en,1,12996,97978,Rare endocrine disease,en,11129,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11128,79084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79084,en,"Familial partial lipodystrophy, Kbberling type",en,1,12996,97978,Rare endocrine disease,en,11128,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28606,567983,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567983,en,Parenteral nutrition-associated cholestasis,en,1,10772,57146,Rare hepatic disease,en,28606,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11135,79093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79093,en,Foix-Alajouanine syndrome,en,1,13024,98006,Rare neurologic disease,en,11135,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11134,79091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79091,en,Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,en,1,13024,98006,Rare neurologic disease,en,11134,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11072,75327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75327,en,North Carolina macular dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,11072,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11073,75373,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75373,en,Progressive bifocal chorioretinal atrophy,en,1,12984,97966,Rare ophthalmic disorder,en,11073,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11074,75374,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75374,en,Bradyopsia,en,1,12984,97966,Rare ophthalmic disorder,en,11074,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11075,75376,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75376,en,Familial drusen,en,1,12984,97966,Rare ophthalmic disorder,en,11075,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11076,75377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75377,en,Central areolar choroidal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,11076,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11077,75378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75378,en,Oligocone trichromacy,en,1,12984,97966,Rare ophthalmic disorder,en,11077,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11078,75381,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75381,en,Cystoid macular dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,11078,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11079,75382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75382,en,Oguchi disease,en,1,12984,97966,Rare ophthalmic disorder,en,11079,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28553,566847,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566847,en,Aprosencephaly/atelencephaly spectrum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28553,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11080,75389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389,en,Brain malformation-congenital heart disease-postaxial polydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11080,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28552,566841,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566841,en,Liver adenomatosis,en,1,19592,250908,Rare neoplastic disease,en,28552,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11081,75391,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75391,en,Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,en,1,13022,98004,Rare immune disease,en,11081,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28555,566857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566857,en,Aprosencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28555,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11082,75392,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392,en,Periodontal Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11082,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28554,566852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566852,en,Atelencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28554,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11083,75496,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496,en,B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11083,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11084,75497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497,en,X-linked Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11084,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28556,566862,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566862,en,Left sided atrial isomerism,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28556,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11086,75508,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75508,en,Angioosteohypotrophic syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11086,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11087,75563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563,en,X-linked sideroblastic anemia,en,1,13010,97992,Rare hematologic disease,en,11087,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28560,566943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566943,en,Mueller-Weiss syndrome,en,1,12333,93419,Rare bone disease,en,28560,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11089,75565,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75565,en,Tropical endomyocardial fibrosis,en,1,12948,97929,Rare cardiac disease,en,11089,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11088,75564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564,en,Acquired idiopathic sideroblastic anemia,en,1,13010,97992,Rare hematologic disease,en,11088,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11091,75567,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75567,en,Primary progressive freezing gait,en,1,13024,98006,Rare neurologic disease,en,11091,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11090,75566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75566,en,Loeffler endocarditis,en,1,12948,97929,Rare cardiac disease,en,11090,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11095,75857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857,en,6q terminal deletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11095,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11094,75840,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75840,en,"Congenital muscular dystrophy, Ullrich type",en,1,13024,98006,Rare neurologic disease,en,11094,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11096,75858,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858,en,MORM syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11096,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11101,77258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258,en,Trichorhinophalangeal syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11101,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11103,77260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260,en,Gaucher disease type 2,en,1,10507,68367,Rare inborn errors of metabolism,en,11103,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11102,77259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259,en,Gaucher disease type 1,en,1,10507,68367,Rare inborn errors of metabolism,en,11102,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11047,73271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73271,en,Bleeding diathesis due to a collagen receptor defect,en,1,13010,97992,Rare hematologic disease,en,11047,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11044,73263,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73263,en,Zygomycosis,en,1,10557,68416,Rare infectious disease,en,11044,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11045,73267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73267,en,Non-24-hour sleep-wake syndrome,en,1,13024,98006,Rare neurologic disease,en,11045,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11042,73256,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73256,en,Central neurocytoma,en,1,12984,97966,Rare ophthalmic disorder,en,11042,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11043,73260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73260,en,Paracoccidioidomycosis,en,1,10557,68416,Rare infectious disease,en,11043,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11040,73246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73246,en,Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11040,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28655,569821,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821,en,Congenital primary lymphedema of Gordon,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28655,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11054,73423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73423,en,Acute ackee fruit intoxication,en,1,15031,108999,Rare disorder due to toxic effects,en,11054,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28654,569816,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569816,en,CELSR1-related late-onset primary lymphedema,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28654,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11048,73272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73272,en,Growth delay due to insulin-like growth factor type 1 deficiency,en,1,12996,97978,Rare endocrine disease,en,11048,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11049,73273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73273,en,Growth delay due to insulin-like growth factor I resistance,en,1,12996,97978,Rare endocrine disease,en,11049,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11071,75326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75326,en,Retinal arterial tortuosity,en,1,13024,98006,Rare neurologic disease,en,11071,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11070,75325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325,en,Osteosclerosis-ichthyosis-premature ovarian failure syndrome,en,1,12333,93419,Rare bone disease,en,11070,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11069,75249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75249,en,Familial isolated restrictive cardiomyopathy,en,1,12948,97929,Rare cardiac disease,en,11069,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11068,75234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234,en,Cholesteryl ester storage disease,en,1,10507,68367,Rare inborn errors of metabolism,en,11068,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11067,75233,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233,en,Wolman disease,en,1,10507,68367,Rare inborn errors of metabolism,en,11067,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28613,568065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065,en,EPHB4-related lymphatic-related hydrops fetalis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28613,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11012,71290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290,en,Familial platelet disorder with associated myeloid malignancy,en,1,13010,97992,Rare hematologic disease,en,11012,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28612,568062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568062,en,PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28612,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11014,71493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71493,en,Familial thrombocytosis,en,1,13010,97992,Rare hematologic disease,en,11014,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11015,71505,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71505,en,Cancer-associated retinopathy,en,1,12984,97966,Rare ophthalmic disorder,en,11015,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28611,568056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056,en,Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28611,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28610,568051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568051,en,GJC2-related late-onset primary lymphedema,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28610,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11011,71289,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289,en,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11011,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11020,71526,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71526,en,Obesity due to pro-opiomelanocortin deficiency,en,1,12996,97978,Rare endocrine disease,en,11020,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11021,71528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528,en,Obesity due to prohormone convertase I deficiency,en,1,12996,97978,Rare endocrine disease,en,11021,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11022,71529,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71529,en,Obesity due to melanocortin 4 receptor deficiency,en,1,12996,97978,Rare endocrine disease,en,11022,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28622,569164,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569164,en,Angiomatoid fibrous histiocytoma,en,1,19592,250908,Rare neoplastic disease,en,28622,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11017,71517,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71517,en,Rapid-onset dystonia-parkinsonism,en,1,13024,98006,Rare neurologic disease,en,11017,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11018,71518,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71518,en,Benign paroxysmal torticollis of infancy,en,1,13024,98006,Rare neurologic disease,en,11018,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11019,71519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71519,en,Psychogenic movement disorders,en,1,13024,98006,Rare neurologic disease,en,11019,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28629,569274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274,en,Multiple mitochondrial dysfunctions syndrome type 5,en,1,10507,68367,Rare inborn errors of metabolism,en,28629,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28631,569290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290,en,Multiple mitochondrial dysfunctions syndrome type 6,en,1,10507,68367,Rare inborn errors of metabolism,en,28631,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28626,569248,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569248,en,Microcystic stromal tumor,en,1,19592,250908,Rare neoplastic disease,en,28626,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11037,73229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229,en,HANAC syndrome,en,1,13024,98006,Rare neurologic disease,en,11037,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11036,73224,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224,en,Kidney tubulopathy-dilated cardiomyopathy syndrome,en,1,12456,93626,Rare renal disease,en,11036,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11039,73245,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73245,en,Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome,en,1,13024,98006,Rare neurologic disease,en,11039,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11038,73230,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230,en,Ossification anomalies-psychomotor developmental delay syndrome,en,1,12333,93419,Rare bone disease,en,11038,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11035,73223,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73223,en,Global developmental delay-osteopenia-ectodermal defect syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11035,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10462,40366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40366,en,Acitretin/etretinate embryopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10462,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10463,40923,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40923,en,Eales disease,en,1,12984,97966,Rare ophthalmic disorder,en,10463,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10460,39812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39812,en,Graft versus host disease,en,1,13022,98004,Rare immune disease,en,10460,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27672,530849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530849,en,Familial apolipoprotein A5 deficiency,en,1,12996,97978,Rare endocrine disease,en,27672,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10452,39041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041,en,Omenn syndrome,en,1,13022,98004,Rare immune disease,en,10452,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27669,530838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530838,en,KRT1-related diffuse nonepidermolytic keratoderma,en,1,11896,89826,Rare skin disease,en,27669,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10453,39044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39044,en,Uveal melanoma,en,1,19592,250908,Rare neoplastic disease,en,10453,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27668,530792,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530792,en,RELA fusion-positive ependymoma,en,1,19592,250908,Rare neoplastic disease,en,27668,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10451,38874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38874,en,Dihydropyrimidinuria,en,1,10507,68367,Rare inborn errors of metabolism,en,10451,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10447,37748,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37748,en,Schnitzler syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10447,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27660,530303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530303,en,Progressive dementia with neuroserpin inclusion bodies,en,1,13024,98006,Rare neurologic disease,en,27660,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10444,37612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612,en,Episodic ataxia type 1,en,1,13024,98006,Rare neurologic disease,en,10444,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10443,37559,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37559,en,Acquired kinky hair syndrome,en,1,11896,89826,Rare skin disease,en,10443,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27659,530298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530298,en,Progressive myoclonic epilepsy with neuroserpin inclusion bodies,en,1,13024,98006,Rare neurologic disease,en,27659,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10442,37553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553,en,Andersen-Tawil syndrome,en,1,13024,98006,Rare neurologic disease,en,10442,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10441,37202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37202,en,Interstitial cystitis,en,1,14860,101433,Rare urogenital disease,en,10441,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10440,37042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042,en,Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,en,1,13022,98004,Rare immune disease,en,10440,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10438,36913,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36913,en,Autoimmune hypoparathyroidism,en,1,12996,97978,Rare endocrine disease,en,10438,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10437,36899,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899,en,Myoclonus-dystonia syndrome,en,1,13024,98006,Rare neurologic disease,en,10437,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27690,531151,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531151,en,9q21.13 microdeletion syndrome,en,1,13024,98006,Rare neurologic disease,en,27690,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27685,530983,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530983,en,Lamb-Shaffer syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27685,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27686,530995,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530995,en,Mixed phenotype acute leukemia,en,1,19592,250908,Rare neoplastic disease,en,27686,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10464,41751,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751,en,Bietti crystalline dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,10464,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10466,42062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42062,en,Iminoglycinuria,en,1,10507,68367,Rare inborn errors of metabolism,en,10466,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10395,35706,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706,en,Glutaric acidemia type 3,en,1,10507,68367,Rare inborn errors of metabolism,en,10395,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10393,35704,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704,en,L-Arginine:glycine amidinotransferase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,10393,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10398,35710,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710,en,Glucose-galactose malabsorption,en,1,12954,97935,Rare gastroenterologic disease,en,10398,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10399,35737,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737,en,Morning glory disc anomaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10399,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10397,35708,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708,en,Aromatic L-amino acid decarboxylase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,10397,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10385,35689,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35689,en,Primary lateral sclerosis,en,1,13024,98006,Rare neurologic disease,en,10385,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10391,35701,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35701,en,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,10391,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10378,35612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612,en,Nanophthalmos,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10378,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10376,35173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173,en,X-linked dominant chondrodysplasia punctata,en,1,12333,93419,Rare bone disease,en,10376,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10383,35687,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35687,en,Erdheim-Chester disease,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10383,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10382,35686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35686,en,Serpiginous choroiditis,en,1,12984,97966,Rare ophthalmic disorder,en,10382,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10381,35664,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664,en,ALDH18A1-related De Barsy syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,10381,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10371,35120,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120,en,Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,en,1,13010,97992,Rare hematologic disease,en,10371,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10370,35107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107,en,Desmosterolosis,en,1,12333,93419,Rare bone disease,en,10370,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10369,35099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099,en,Non-syndromic bicoronal craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10369,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10375,35125,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125,en,Epidermal nevus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10375,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10373,35122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122,en,Congenital sucrase-isomaltase deficiency,en,1,12954,97935,Rare gastroenterologic disease,en,10373,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10372,35121,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35121,en,Lysosomal acid phosphatase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,10372,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10424,36387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387,en,Generalized epilepsy with febrile seizures-plus,en,1,13024,98006,Rare neurologic disease,en,10424,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10426,36397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36397,en,Adiposis dolorosa,en,1,11896,89826,Rare skin disease,en,10426,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10428,36412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36412,en,Hypocomplementemic urticarial vasculitis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10428,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10430,36426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36426,en,Stevens-Johnson syndrome,en,1,11896,89826,Rare skin disease,en,10430,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10417,36355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36355,en,Bleeding disorder due to P2Y12 defect,en,1,13010,97992,Rare hematologic disease,en,10417,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10418,36367,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367,en,Distal deletion 1q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10418,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10420,36382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36382,en,Familial cervical artery dissection,en,1,13024,98006,Rare neurologic disease,en,10420,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10421,36383,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36383,en,COL4A1-related familial vascular leukoencephalopathy,en,1,13024,98006,Rare neurologic disease,en,10421,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10423,36386,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386,en,Hereditary sensory and autonomic neuropathy type 1,en,1,13024,98006,Rare neurologic disease,en,10423,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10409,36234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36234,en,Bacterial toxic-shock syndrome,en,1,10557,68416,Rare infectious disease,en,10409,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10411,36236,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36236,en,Staphylococcal scalded skin syndrome,en,1,10557,68416,Rare infectious disease,en,10411,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10410,36235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36235,en,Staphylococcal scarlet fever,en,1,10557,68416,Rare infectious disease,en,10410,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10413,36238,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36238,en,Staphylococcal necrotizing pneumonia,en,1,10557,68416,Rare infectious disease,en,10413,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10412,36237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36237,en,Bullous impetigo,en,1,10557,68416,Rare infectious disease,en,10412,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10415,36273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36273,en,Gastric linitis plastica,en,1,19592,250908,Rare neoplastic disease,en,10415,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10414,36258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36258,en,Buerger disease,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10414,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10403,35878,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878,en,Hyperinsulinism-hyperammonemia syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,10403,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10402,35858,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858,en,Imerslund-Grsbeck syndrome,en,1,13010,97992,Rare hematologic disease,en,10402,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10405,35909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35909,en,Combined deficiency of factor V and factor VIII,en,1,13010,97992,Rare hematologic disease,en,10405,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10404,35889,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35889,en,Acute opioid intoxication,en,1,15031,108999,Rare disorder due to toxic effects,en,10404,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10327,33572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33572,en,5-oxoprolinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,10327,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10326,33543,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33543,en,Kleine-Levin syndrome,en,1,13024,98006,Rare neurologic disease,en,10326,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10324,33475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33475,en,Meningococcal meningitis,en,1,10557,68416,Rare infectious disease,en,10324,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10323,33445,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445,en,Neuroectodermal melanolysosomal disease,en,1,13024,98006,Rare neurologic disease,en,10323,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10321,33408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33408,en,Bullous lichen planus,en,1,11896,89826,Rare skin disease,en,10321,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27792,535458,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535458,en,Familial GPIHBP1 deficiency,en,1,12996,97978,Rare endocrine disease,en,27792,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10320,33402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33402,en,Pediatric hepatocellular carcinoma,en,1,19592,250908,Rare neoplastic disease,en,10320,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10333,34217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217,en,Naxos disease,en,1,12948,97929,Rare cardiac disease,en,10333,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10332,34149,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34149,en,Autosomal dominant tubulointerstitial kidney disease,en,1,12456,93626,Rare renal disease,en,10332,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10330,33577,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33577,en,Nodular non-suppurative panniculitis,en,1,11896,89826,Rare skin disease,en,10330,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10329,33574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574,en,Glutamate-cysteine ligase deficiency,en,1,13010,97992,Rare hematologic disease,en,10329,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10328,33573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33573,en,Gamma-glutamyl transpeptidase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,10328,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10310,33110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33110,en,Autosomal agammaglobulinemia,en,1,13022,98004,Rare immune disease,en,10310,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10311,33111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111,en,Granulomatous slack skin,en,1,19592,250908,Rare neoplastic disease,en,10311,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10308,33108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108,en,Lethal multiple pterygium syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10308,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10306,33067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067,en,"Metaphyseal chondrodysplasia, Jansen type",en,1,12333,93419,Rare bone disease,en,10306,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10307,33069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069,en,Dravet syndrome,en,1,13024,98006,Rare neurologic disease,en,10307,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10305,33001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001,en,Lymphedema-distichiasis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10305,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10318,33355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33355,en,Reticular dysgenesis,en,1,13022,98004,Rare immune disease,en,10318,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27791,535453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535453,en,Familial lipase maturation factor 1 deficiency,en,1,12996,97978,Rare endocrine disease,en,27791,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10319,33364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364,en,Trichothiodystrophy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10319,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10316,33276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33276,en,Kaposi sarcoma,en,1,19592,250908,Rare neoplastic disease,en,10316,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10317,33314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33314,en,Jessner lymphocytic infiltration of the skin,en,1,11896,89826,Rare skin disease,en,10317,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10312,33208,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33208,en,Idiopathic hypersomnia,en,1,13024,98006,Rare neurologic disease,en,10312,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10313,33226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33226,en,Waldenstrm macroglobulinemia,en,1,19592,250908,Rare neoplastic disease,en,10313,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10365,35069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069,en,Infantile neuroaxonal dystrophy,en,1,13024,98006,Rare neurologic disease,en,10365,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10367,35093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093,en,Non-syndromic sagittal craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10367,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10366,35078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35078,en,T-B+ severe combined immunodeficiency due to JAK3 deficiency,en,1,13022,98004,Rare immune disease,en,10366,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10361,35063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35063,en,Fulminant viral hepatitis,en,1,10772,57146,Rare hepatic disease,en,10361,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10360,35062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35062,en,Severe disseminated cytomegalovirus infection in immunocompetent patients,en,1,10557,68416,Rare infectious disease,en,10360,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10342,34520,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34520,en,Congenital muscular dystrophy with integrin alpha-7 deficiency,en,1,13024,98006,Rare neurologic disease,en,10342,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10336,34514,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34514,en,Telethonin-related limb-girdle muscular dystrophy R7,en,1,13024,98006,Rare neurologic disease,en,10336,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10337,34515,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515,en,FKRP-related limb-girdle muscular dystrophy R9,en,1,13024,98006,Rare neurologic disease,en,10337,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10338,34516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34516,en,DNAJB6-related limb-girdle muscular dystrophy D1,en,1,13024,98006,Rare neurologic disease,en,10338,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10348,34587,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587,en,Glycogen storage disease due to LAMP-2 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,10348,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10349,34592,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34592,en,Immunodeficiency by defective expression of MHC class I,en,1,13022,98004,Rare immune disease,en,10349,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10346,34528,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528,en,Autosomal dominant primary hypomagnesemia with hypocalciuria,en,1,12456,93626,Rare renal disease,en,10346,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27851,536516,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516,en,Myopathic Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,27851,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27850,536471,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536471,en,Spondylodysplastic Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,27850,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27849,536467,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467,en,B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,27849,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27853,536545,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536545,en,Kyphoscoliotic Ehlers-Danlos syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,27853,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27852,536532,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532,en,Classical-like Ehlers-Danlos syndrome type 2,en,1,13041,98023,Rare systemic or rheumatologic disease,en,27852,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27892,537072,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537072,en,PLG-related hereditary angioedema with normal C1Inh,en,1,13041,98023,Rare systemic or rheumatologic disease,en,27892,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10303,32960,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960,en,Tumor necrosis factor receptor 1 associated periodic syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10303,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10700,52530,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52530,en,Pseudo-von Willebrand disease,en,1,13010,97992,Rare hematologic disease,en,10700,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10697,52429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52429,en,Branchiootic syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10697,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27913,538096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538096,en,Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy,en,1,13024,98006,Rare neurologic disease,en,27913,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10699,52503,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503,en,X-linked creatine transporter deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,10699,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27914,538101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538101,en,Congenital axonal neuropathy with encephalopathy,en,1,13024,98006,Rare neurologic disease,en,27914,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10698,52430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430,en,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,en,1,13024,98006,Rare neurologic disease,en,10698,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10693,52416,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52416,en,Mantle cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,10693,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10695,52427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52427,en,Retinitis punctata albescens,en,1,12984,97966,Rare ophthalmic disorder,en,10695,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10694,52417,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52417,en,MALT lymphoma,en,1,19592,250908,Rare neoplastic disease,en,10694,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10689,52056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056,en,Ulnar/fibula ray defect-brachydactyly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10689,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10688,52055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055,en,Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10688,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10691,52368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368,en,Mohr-Tranebjaerg syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10691,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10716,53271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271,en,Muenke syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10716,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10718,53296,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53296,en,Familial cutaneous collagenoma,en,1,11896,89826,Rare skin disease,en,10718,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10719,53347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53347,en,Brody myopathy,en,1,13024,98006,Rare neurologic disease,en,10719,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10714,52994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52994,en,Orbital leiomyoma,en,1,19592,250908,Rare neoplastic disease,en,10714,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10715,53035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035,en,Caroli disease,en,1,10772,57146,Rare hepatic disease,en,10715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10706,52901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901,en,Isolated follicle stimulating hormone deficiency,en,1,12996,97978,Rare endocrine disease,en,10706,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10735,53690,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690,en,Congenital lactase deficiency,en,1,12954,97935,Rare gastroenterologic disease,en,10735,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10734,53689,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689,en,Congenital chloride diarrhea,en,1,12954,97935,Rare gastroenterologic disease,en,10734,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27951,538863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538863,en,Classic pyoderma gangrenosum,en,1,11896,89826,Rare skin disease,en,27951,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27945,538756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538756,en,Familial multiple discoid fibromas,en,1,19592,250908,Rare neoplastic disease,en,27945,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27942,538574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538574,en,Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27942,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10724,53583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583,en,Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,en,1,13024,98006,Rare neurologic disease,en,10724,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10723,53540,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540,en,Goldmann-Favre syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10723,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10721,53372,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53372,en,Hereditary geniospasm,en,1,13024,98006,Rare neurologic disease,en,10721,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10720,53351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53351,en,X-linked dystonia-parkinsonism,en,1,13024,98006,Rare neurologic disease,en,10720,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10750,54260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54260,en,Left ventricular noncompaction,en,1,12948,97929,Rare cardiac disease,en,10750,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10748,54247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54247,en,Posterior cortical atrophy,en,1,13024,98006,Rare neurologic disease,en,10748,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27964,538934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934,en,X-linked lymphoproliferative disease due to XIAP deficiency,en,1,13022,98004,Rare immune disease,en,27964,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10749,54251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54251,en,Corticosteroid-sensitive aseptic abscess syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10749,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27963,538931,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538931,en,X-linked lymphoproliferative disease due to SH2D1A deficiency,en,1,13022,98004,Rare immune disease,en,27963,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10746,54057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54057,en,Thrombotic thrombocytopenic purpura,en,1,13010,97992,Rare hematologic disease,en,10746,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10745,54028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54028,en,Plummer-Vinson syndrome,en,1,13010,97992,Rare hematologic disease,en,10745,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10742,53719,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53719,en,Wyburn-Mason syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10742,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10743,53721,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53721,en,Spinal arteriovenous metameric syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10743,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10740,53698,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53698,en,Myosin storage myopathy,en,1,13024,98006,Rare neurologic disease,en,10740,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10741,53715,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715,en,Familial tumoral calcinosis,en,1,11896,89826,Rare skin disease,en,10741,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10738,53696,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53696,en,Arthrogryposis-anterior horn cell disease syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10738,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27954,538872,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538872,en,Vegetative pyoderma gangrenosum,en,1,11896,89826,Rare skin disease,en,27954,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10739,53697,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697,en,Gnathodiaphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,10739,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10736,53691,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691,en,Congenital cornea plana,en,1,12984,97966,Rare ophthalmic disorder,en,10736,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27953,538869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538869,en,Bullous pyoderma gangrenosum,en,1,11896,89826,Rare skin disease,en,27953,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27952,538866,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538866,en,Pustular pyoderma gangrenosum,en,1,11896,89826,Rare skin disease,en,27952,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10737,53693,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693,en,GRACILE syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,10737,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10633,48818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818,en,Aceruloplasminemia,en,1,13024,98006,Rare neurologic disease,en,10633,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10632,48736,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48736,en,Embryonal carcinoma of the central nervous system,en,1,19592,250908,Rare neoplastic disease,en,10632,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10637,49041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49041,en,IgG4-related retroperitoneal fibrosis,en,1,17578,165711,Rare abdominal surgical disease,en,10637,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10636,48918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48918,en,Focal myositis,en,1,13024,98006,Rare neurologic disease,en,10636,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10639,49382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49382,en,Achromatopsia,en,1,12984,97966,Rare ophthalmic disorder,en,10639,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10638,49042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49042,en,Dentinogenesis imperfecta,en,1,13044,98026,Rare odontologic disease,en,10638,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27968,538958,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958,en,Combined immunodeficiency due to CD70 deficiency,en,1,13022,98004,Rare immune disease,en,27968,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10625,48431,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431,en,Congenital cataracts-facial dysmorphism-neuropathy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10625,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27969,538963,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963,en,Combined immunodeficiency due to ITK deficiency,en,1,13022,98004,Rare immune disease,en,27969,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10626,48435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48435,en,Postinfectious vasculitis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10626,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10631,48686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48686,en,Primary effusion lymphoma,en,1,19592,250908,Rare neoplastic disease,en,10631,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10630,48652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652,en,Monosomy 22q13.3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10630,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10648,50809,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50809,en,Talo-patello-scaphoid osteolysis,en,1,12333,93419,Rare bone disease,en,10648,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10649,50810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50810,en,Microlissencephaly-micromelia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10649,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10650,50811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811,en,Lipodystrophy-intellectual disability-deafness syndrome,en,1,12333,93419,Rare bone disease,en,10650,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10651,50812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50812,en,Zellweger-like syndrome without peroxisomal anomalies,en,1,13024,98006,Rare neurologic disease,en,10651,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10653,50814,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814,en,Craniolenticulosutural dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10653,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10654,50815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815,en,Branchiogenic deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10654,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10640,49566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566,en,Acquired purpura fulminans,en,1,13010,97992,Rare hematologic disease,en,10640,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10641,49804,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49804,en,Lichen amyloidosis,en,1,11896,89826,Rare skin disease,en,10641,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10643,49827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827,en,Thiamine-responsive megaloblastic anemia syndrome,en,1,13010,97992,Rare hematologic disease,en,10643,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10645,50251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50251,en,Pleural mesothelioma,en,1,19592,250908,Rare neoplastic disease,en,10645,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10665,50945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945,en,Blomstrand lethal chondrodysplasia,en,1,12333,93419,Rare bone disease,en,10665,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10664,50944,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944,en,Schpf-Schulz-Passarge syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10664,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10671,51084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51084,en,Torsade-de-pointes syndrome with short coupling interval,en,1,12948,97929,Rare cardiac disease,en,10671,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10670,51083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51083,en,Familial short QT syndrome,en,1,12948,97929,Rare cardiac disease,en,10670,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10658,50839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50839,en,Cat-scratch disease,en,1,10557,68416,Rare infectious disease,en,10658,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10656,50817,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50817,en,Duane anomaly-myopathy-scoliosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10656,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10663,50943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50943,en,Keratolytic winter erythema,en,1,11896,89826,Rare skin disease,en,10663,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10662,50942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50942,en,Striate palmoplantar keratoderma,en,1,11896,89826,Rare skin disease,en,10662,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10660,50918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50918,en,Kikuchi-Fujimoto disease,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10660,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10687,52054,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054,en,Craniosynostosis-intracranial calcifications syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10687,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10684,52022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022,en,Potocki-Shaffer syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10684,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10685,52047,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52047,en,Braddock syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10685,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10675,51608,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51608,en,Generalized arterial calcification of infancy,en,1,13046,98028,Rare circulatory system disease,en,10675,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10672,51188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188,en,Ethylmalonic encephalopathy,en,1,13024,98006,Rare neurologic disease,en,10672,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28017,541423,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541423,en,Growth delay-intellectual disability-hepatopathy syndrome,en,1,13024,98006,Rare neurologic disease,en,28017,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10673,51208,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208,en,Formiminoglutamic aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,10673,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28023,541507,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541507,en,Anomalous origin of coronary artery from the pulmonary artery,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28023,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10676,51636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636,en,WHIM syndrome,en,1,13022,98004,Rare immune disease,en,10676,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28021,541454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541454,en,Anomalous aortic origin of the right coronary artery,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28021,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10677,51890,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51890,en,Anterior cutaneous nerve entrapment syndrome,en,1,13024,98006,Rare neurologic disease,en,10677,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28020,541443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541443,en,Anomalous aortic origin of the left coronary artery,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28020,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28037,542306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542306,en,GNB5-related intellectual disability-cardiac arrhythmia syndrome,en,1,12948,97929,Rare cardiac disease,en,28037,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28036,542301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301,en,Combined immunodeficiency due to CARMIL2 deficiency,en,1,13022,98004,Rare immune disease,en,28036,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28038,542310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542310,en,Leukoencephalopathy with calcifications and cysts,en,1,13024,98006,Rare neurologic disease,en,28038,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10573,42642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42642,en,PFAPA syndrome,en,1,13022,98004,Rare immune disease,en,10573,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10575,42665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665,en,Tietz syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10575,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28040,542323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542323,en,CAR T cell therapy-associated cytokine release syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,28040,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10581,43117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43117,en,Acute tricyclic antidepressant poisoning,en,1,15031,108999,Rare disorder due to toxic effects,en,10581,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28052,542585,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585,en,Auditory neuropathy-optic atrophy syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,28052,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10580,43116,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43116,en,Serotonin syndrome,en,1,13024,98006,Rare neurologic disease,en,10580,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28053,542592,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542592,en,Necrobiosis lipoidica,en,1,11896,89826,Rare skin disease,en,28053,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10583,43393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43393,en,Lambert-Eaton myasthenic syndrome,en,1,13024,98006,Rare neurologic disease,en,10583,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10582,43119,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43119,en,Acute poisoning by drugs with membrane-stabilizing effect,en,1,15031,108999,Rare disorder due to toxic effects,en,10582,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28055,542643,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542643,en,Livedoid vasculopathy,en,1,11896,89826,Rare skin disease,en,28055,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10577,42775,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775,en,PHACE syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10577,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10579,43115,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115,en,Hereditary myopathy with lactic acidosis due to ISCU deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,10579,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28051,542568,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568,en,Quadricuspid aortic valve,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28051,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10589,45448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45448,en,Miyoshi myopathy,en,1,13024,98006,Rare neurologic disease,en,10589,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28061,543470,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470,en,Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,28061,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10591,45453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45453,en,Incessant infant ventricular tachycardia,en,1,12948,97929,Rare cardiac disease,en,10591,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10590,45452,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45452,en,Idiopathic neonatal atrial flutter,en,1,12948,97929,Rare cardiac disease,en,10590,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28056,542657,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542657,en,Isolated hyperchlorhidrosis,en,1,11896,89826,Rare skin disease,en,28056,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10584,44890,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890,en,Gastrointestinal stromal tumor,en,1,19592,250908,Rare neoplastic disease,en,10584,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10586,45358,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358,en,Congenital fibrosis of extraocular muscles,en,1,12984,97966,Rare ophthalmic disorder,en,10586,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10598,46487,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46487,en,Epidermolysis bullosa acquisita,en,1,11896,89826,Rare skin disease,en,10598,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28070,544254,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544254,en,SYNGAP1-related developmental and epileptic encephalopathy,en,1,13024,98006,Rare neurologic disease,en,28070,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10599,46488,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46488,en,Linear IgA dermatosis,en,1,11896,89826,Rare skin disease,en,10599,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10597,46486,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46486,en,Mucous membrane pemphigoid,en,1,11896,89826,Rare skin disease,en,10597,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10594,46348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46348,en,Paroxysmal extreme pain disorder,en,1,13024,98006,Rare neurologic disease,en,10594,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10592,46059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059,en,Lathosterolosis,en,1,10507,68367,Rare inborn errors of metabolism,en,10592,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10593,46135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46135,en,Primary central nervous system lymphoma,en,1,19592,250908,Rare neoplastic disease,en,10593,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10607,47044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47044,en,Hereditary papillary renal cell carcinoma,en,1,19592,250908,Rare neoplastic disease,en,10607,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10604,46724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46724,en,Cerebral arteriovenous malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10604,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10602,46627,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627,en,Char syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,10602,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10601,46532,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46532,en,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,en,1,13010,97992,Rare hematologic disease,en,10601,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10615,48372,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48372,en,Nodular regenerative hyperplasia of the liver,en,1,10772,57146,Rare hepatic disease,en,10615,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10614,48162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48162,en,Lewis-Sumner syndrome,en,1,13024,98006,Rare neurologic disease,en,10614,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28084,544493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544493,en,Streptococcus pneumoniae-associated hemolytic uremic syndrome,en,1,12456,93626,Rare renal disease,en,28084,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10613,48104,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48104,en,Pyoderma gangrenosum,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10613,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28085,544503,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503,en,RNF13-related severe early-onset epileptic encephalopathy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28085,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10611,47612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47612,en,Felty syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10611,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28082,544482,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544482,en,Infection-related hemolytic uremic syndrome,en,1,12456,93626,Rare renal disease,en,28082,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10610,47159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47159,en,Proximal renal tubular acidosis,en,1,12456,93626,Rare renal disease,en,10610,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28083,544488,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488,en,Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,28083,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28080,544469,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469,en,PRUNE1-related neurological syndrome,en,1,13024,98006,Rare neurologic disease,en,28080,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28081,544472,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472,en,Atypical hemolytic uremic syndrome with complement gene abnormality,en,1,12456,93626,Rare renal disease,en,28081,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10608,47045,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47045,en,Familial cold urticaria,en,1,13041,98023,Rare systemic or rheumatologic disease,en,10608,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28092,544628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628,en,Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,en,1,12996,97978,Rare endocrine disease,en,28092,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28091,544602,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544602,en,Congenital myopathy with reduced type 2 muscle fibers,en,1,13024,98006,Rare neurologic disease,en,28091,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,10616,48377,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48377,en,Subcorneal pustular dermatosis,en,1,11896,89826,Rare skin disease,en,10616,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28089,544578,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578,en,"Congenital primary megaureter, refluxing and obstructed form",en,1,14860,101433,Rare urogenital disease,en,28089,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28103,555402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402,en,NAD(P)HX dehydratase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,28103,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28105,555434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555434,en,Fibrohistiocytic inflammatory pseudotumor of the liver,en,1,10772,57146,Rare hepatic disease,en,28105,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28104,555407,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407,en,NAD(P)HX epimerase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,28104,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28106,555437,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555437,en,Lymphoplasmacytic inflammatory pseudotumor of the liver,en,1,10772,57146,Rare hepatic disease,en,28106,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28118,555874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555874,en,Congenital tricuspid valve dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28118,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28119,555877,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555877,en,FLNA-related X-linked myxomatous valvular dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28119,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28120,555905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555905,en,IgA pemphigus,en,1,11896,89826,Rare skin disease,en,28120,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28123,556030,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556030,en,Early-onset familial hypoaldosteronism,en,1,12996,97978,Rare endocrine disease,en,28123,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28124,556037,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556037,en,Late-onset familial hypoaldosteronism,en,1,12996,97978,Rare endocrine disease,en,28124,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28139,556985,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985,en,Early-onset calcifying leukoencephalopathy-skeletal dysplasia,en,1,13024,98006,Rare neurologic disease,en,28139,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28138,556955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955,en,Pancreatic agenesis-holoprosencephaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28138,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28142,557064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064,en,Neonatal epileptic encephalopathy due to glutaminase deficiency,en,1,13024,98006,Rare neurologic disease,en,28142,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28141,557056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056,en,Spastic ataxia-dysarthria due to glutaminase deficiency,en,1,13024,98006,Rare neurologic disease,en,28141,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28140,557003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003,en,Oculoskeletodental syndrome,en,1,12333,93419,Rare bone disease,en,28140,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11956,90065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90065,en,Acquired aneurysmal subarachnoid hemorrhage,en,1,13024,98006,Rare neurologic disease,en,11956,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27253,519392,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519392,en,Isolated iridoschisis,en,1,12984,97966,Rare ophthalmic disorder,en,27253,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11957,90066,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90066,en,Pneumonia caused by Pseudomonas aeruginosa infection,en,1,12974,97955,Rare respiratory disease,en,11957,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27252,519390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519390,en,Isolated blepharochalasis,en,1,12984,97966,Rare ophthalmic disorder,en,27252,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27255,519396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519396,en,Isolated microspherophakia,en,1,12984,97966,Rare ophthalmic disorder,en,27255,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11959,90068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90068,en,Cocaine intoxication,en,1,15031,108999,Rare disorder due to toxic effects,en,11959,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27249,519384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519384,en,Congenital cystic eye,en,1,12984,97966,Rare ophthalmic disorder,en,27249,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11953,90062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90062,en,Acute liver failure,en,1,10772,57146,Rare hepatic disease,en,11953,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27251,519388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388,en,Autosomal recessive anterior segment dysgenesis,en,1,12984,97966,Rare ophthalmic disorder,en,27251,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11955,90064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90064,en,Acute peripheral arterial occlusion,en,1,13046,98028,Rare circulatory system disease,en,11955,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27250,519386,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519386,en,Isolated congenital entropion,en,1,12984,97966,Rare ophthalmic disorder,en,27250,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11964,90073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90073,en,Hepatitis B reinfection following liver transplantation,en,1,10772,57146,Rare hepatic disease,en,11964,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27261,519408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519408,en,Mooren ulcer,en,1,12984,97966,Rare ophthalmic disorder,en,27261,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27260,519406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519406,en,Thygeson superficial punctate keratitis,en,1,12984,97966,Rare ophthalmic disorder,en,27260,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27262,519410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519410,en,Terrien marginal degeneration,en,1,12984,97966,Rare ophthalmic disorder,en,27262,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11967,90076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90076,en,Partial deep dermal and full thickness burns,en,1,13010,97992,Rare hematologic disease,en,11967,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11960,90069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90069,en,Systemic monochloroacetate poisoning,en,1,15031,108999,Rare disorder due to toxic effects,en,11960,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27257,519400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519400,en,Peripapillary staphyloma,en,1,12984,97966,Rare ophthalmic disorder,en,27257,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27256,519398,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519398,en,Isolated foveal hypoplasia,en,1,12984,97966,Rare ophthalmic disorder,en,27256,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27259,519404,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519404,en,Optic disc pit,en,1,12984,97966,Rare ophthalmic disorder,en,27259,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27258,519402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519402,en,Isolated megalopapilla,en,1,12984,97966,Rare ophthalmic disorder,en,27258,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11941,90050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90050,en,Retinopathy of prematurity,en,1,12984,97966,Rare ophthalmic disorder,en,11941,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11940,90045,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045,en,Hereditary folate malabsorption,en,1,13010,97992,Rare hematologic disease,en,11940,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11943,90052,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90052,en,Recurrent hepatitis C virus induced liver disease in liver transplant recipients,en,1,10772,57146,Rare hepatic disease,en,11943,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11942,90051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90051,en,Sepsis in premature infants,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11942,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11937,90041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90041,en,Gaisbck syndrome,en,1,13010,97992,Rare hematologic disease,en,11937,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11936,90039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039,en,Hemoglobin D disease,en,1,13010,97992,Rare hematologic disease,en,11936,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11939,90044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90044,en,Familial pseudohyperkalemia,en,1,13010,97992,Rare hematologic disease,en,11939,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11938,90042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90042,en,Primary familial polycythemia,en,1,13010,97992,Rare hematologic disease,en,11938,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11949,90058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90058,en,Spinal cord injury,en,1,13024,98006,Rare neurologic disease,en,11949,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11951,90060,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90060,en,Diffuse alveolar hemorrhage,en,1,12974,97955,Rare respiratory disease,en,11951,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11950,90059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90059,en,Sudden sensorineural hearing loss,en,1,13054,98036,Rare otorhinolaryngologic disease,en,11950,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11944,90053,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90053,en,Complications after hematopoietic stem cell transplantation,en,1,28445,565779,Rare disorder potentially indicated for transplant or complication after transplantation,en,11944,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11947,90056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90056,en,Moderate and severe traumatic brain injury,en,1,13024,98006,Rare neurologic disease,en,11947,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11926,90024,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90024,en,"Deafness with labyrinthine aplasia, microtia, and microdontia",en,1,13054,98036,Rare otorhinolaryngologic disease,en,11926,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11925,90023,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90023,en,Primary immunodeficiency syndrome due to LAMTOR2 deficiency,en,1,13022,98004,Rare immune disease,en,11925,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11922,90020,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90020,en,Parkinson-dementia complex of Guam,en,1,13024,98006,Rare neurologic disease,en,11922,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11923,90021,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90021,en,Radiation myelitis,en,1,13024,98006,Rare neurologic disease,en,11923,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11920,90002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90002,en,Undifferentiated connective tissue syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11920,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11921,90003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90003,en,Inflammatory pseudotumor of the liver,en,1,10772,57146,Rare hepatic disease,en,11921,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11934,90037,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90037,en,Drug-induced autoimmune hemolytic anemia,en,1,13010,97992,Rare hematologic disease,en,11934,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11935,90038,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90038,en,Shiga toxin-associated hemolytic uremic syndrome,en,1,13010,97992,Rare hematologic disease,en,11935,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11932,90035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90035,en,Paroxysmal cold hemoglobinuria,en,1,13010,97992,Rare hematologic disease,en,11932,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11933,90036,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90036,en,Mixed-type autoimmune hemolytic anemia,en,1,13010,97992,Rare hematologic disease,en,11933,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11930,90031,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90031,en,Non-spherocytic hemolytic anemia due to hexokinase deficiency,en,1,13010,97992,Rare hematologic disease,en,11930,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11931,90033,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90033,en,"Autoimmune hemolytic anemia, warm type",en,1,13010,97992,Rare hematologic disease,en,11931,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11928,90026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90026,en,Primary erythromelalgia,en,1,13024,98006,Rare neurologic disease,en,11928,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11929,90030,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90030,en,Hemolytic anemia due to glutathione reductase deficiency,en,1,13010,97992,Rare hematologic disease,en,11929,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11911,89936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936,en,X-linked hypophosphatemia,en,1,12333,93419,Rare bone disease,en,11911,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11909,89844,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844,en,"Lissencephaly syndrome, Norman-Roberts type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11909,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11908,89843,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89843,en,Dystrophic epidermolysis bullosa pruriginosa,en,1,11896,89826,Rare skin disease,en,11908,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11907,89842,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842,en,"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form",en,1,11896,89826,Rare skin disease,en,11907,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11919,90001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001,en,X-linked cone dysfunction syndrome with myopia,en,1,12984,97966,Rare ophthalmic disorder,en,11919,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11918,90000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90000,en,Erythema elevatum diutinum,en,1,11896,89826,Rare skin disease,en,11918,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11913,89938,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938,en,Bartter syndrome type 4,en,1,12456,93626,Rare renal disease,en,11913,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11912,89937,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937,en,Autosomal dominant hypophosphatemic rickets,en,1,12333,93419,Rare bone disease,en,11912,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12018,90340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340,en,Blau syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,12018,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12020,90342,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342,en,Xeroderma pigmentosum variant,en,1,11896,89826,Rare skin disease,en,12020,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12024,90348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348,en,Autosomal dominant cutis laxa,en,1,11896,89826,Rare skin disease,en,12024,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12025,90349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349,en,Autosomal recessive cutis laxa type 1,en,1,11896,89826,Rare skin disease,en,12025,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12028,90354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354,en,Brittle cornea syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,12028,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12030,90362,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90362,en,Primary intestinal lymphangiectasia,en,1,12954,97935,Rare gastroenterologic disease,en,12030,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12031,90363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90363,en,Secondary intestinal lymphangiectasia,en,1,12954,97935,Rare gastroenterologic disease,en,12031,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12000,90289,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90289,en,Localized scleroderma,en,1,11896,89826,Rare skin disease,en,12000,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12003,90301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90301,en,Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,en,1,12996,97978,Rare endocrine disease,en,12003,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12002,90291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291,en,Systemic sclerosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,12002,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12005,90308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308,en,Klippel-Trnaunay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12005,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12004,90307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307,en,Parkes Weber syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12004,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12009,90322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322,en,Cockayne syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12009,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12008,90321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321,en,Cockayne syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12008,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12010,90324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324,en,Cockayne syndrome type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12010,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11986,90156,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90156,en,Centrifugal lipodystrophy,en,1,11896,89826,Rare skin disease,en,11986,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11987,90157,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90157,en,Drug-induced localized lipodystrophy,en,1,11896,89826,Rare skin disease,en,11987,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11984,90153,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153,en,Mandibuloacral dysplasia with type A lipodystrophy,en,1,12333,93419,Rare bone disease,en,11984,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11985,90154,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154,en,Mandibuloacral dysplasia with type B lipodystrophy,en,1,12333,93419,Rare bone disease,en,11985,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11990,90160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90160,en,Pressure-induced localized lipoatrophy,en,1,11896,89826,Rare skin disease,en,11990,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11988,90158,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90158,en,Idiopathic localized lipodystrophy,en,1,11896,89826,Rare skin disease,en,11988,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11989,90159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90159,en,Panniculitis-induced localized lipodystrophy,en,1,11896,89826,Rare skin disease,en,11989,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11994,90280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90280,en,Chilblain lupus,en,1,11896,89826,Rare skin disease,en,11994,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11995,90281,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90281,en,Discoid lupus erythematosus,en,1,11896,89826,Rare skin disease,en,11995,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11993,90186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186,en,Meige disease,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11993,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11998,90285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90285,en,Lupus erythematosus panniculitis,en,1,11896,89826,Rare skin disease,en,11998,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11996,90282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90282,en,Hypertrophic or verrucous lupus erythematosus,en,1,11896,89826,Rare skin disease,en,11996,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11997,90283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90283,en,Lupus erythematosus tumidus,en,1,11896,89826,Rare skin disease,en,11997,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11971,90080,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90080,en,Scarring in glaucoma filtration surgical procedures,en,1,12984,97966,Rare ophthalmic disorder,en,11971,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11969,90078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90078,en,Invasive infections due to vancomycin-resistant enterococci,en,1,10557,68416,Rare infectious disease,en,11969,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11973,90103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103,en,Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome,en,1,13024,98006,Rare neurologic disease,en,11973,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11972,90081,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90081,en,AIDS wasting syndrome,en,1,13022,98004,Rare immune disease,en,11972,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11979,90118,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90118,en,Severe early-onset axonal neuropathy due to MFN2 deficiency,en,1,13024,98006,Rare neurologic disease,en,11979,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11978,90117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90117,en,"Hereditary motor and sensory neuropathy, Okinawa type",en,1,13024,98006,Rare neurologic disease,en,11978,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11981,90120,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90120,en,Hereditary motor and sensory neuropathy type 6,en,1,13024,98006,Rare neurologic disease,en,11981,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11980,90119,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90119,en,Hereditary motor and sensory neuropathy with acrodystrophy,en,1,13024,98006,Rare neurologic disease,en,11980,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27390,525731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525731,en,Pediatric-onset Graves disease,en,1,12996,97978,Rare endocrine disease,en,27390,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27391,525738,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525738,en,Prepubertal anorexia nervosa,en,1,13024,98006,Rare neurologic disease,en,27391,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11820,88644,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644,en,"Autosomal recessive ataxia, Beauce type",en,1,13024,98006,Rare neurologic disease,en,11820,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11821,88659,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88659,en,Autosomal dominant progressive nephropathy with hypertension,en,1,12456,93626,Rare renal disease,en,11821,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11822,88660,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88660,en,Hypertension due to gain-of-function mutations in the mineralocorticoid receptor,en,1,12456,93626,Rare renal disease,en,11822,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11823,88661,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88661,en,Amelogenesis imperfecta,en,1,13044,98026,Rare odontologic disease,en,11823,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11816,88637,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637,en,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,en,1,13024,98006,Rare neurologic disease,en,11816,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11817,88639,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639,en,Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,en,1,13024,98006,Rare neurologic disease,en,11817,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11818,88642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88642,en,Congenital insensitivity to pain-anosmia-neuropathic arthropathy,en,1,13024,98006,Rare neurologic disease,en,11818,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11819,88643,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88643,en,Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome,en,1,12996,97978,Rare endocrine disease,en,11819,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11813,88633,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88633,en,Superior limbic keratoconjunctivitis,en,1,12984,97966,Rare ophthalmic disorder,en,11813,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11814,88635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88635,en,Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,en,1,13024,98006,Rare neurologic disease,en,11814,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11808,88621,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88621,en,Ichthyosis-prematurity syndrome,en,1,11896,89826,Rare skin disease,en,11808,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11809,88628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628,en,Posterior column ataxia-retinitis pigmentosa syndrome,en,1,13024,98006,Rare neurologic disease,en,11809,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11810,88629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629,en,Tritanopia,en,1,12984,97966,Rare ophthalmic disorder,en,11810,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11811,88630,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630,en,Terminal osseous dysplasia-pigmentary defects syndrome,en,1,12333,93419,Rare bone disease,en,11811,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11807,88620,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88620,en,Isolated congenital anosmia,en,1,13054,98036,Rare otorhinolaryngologic disease,en,11807,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11806,88619,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88619,en,Familial acute necrotizing encephalopathy,en,1,13024,98006,Rare neurologic disease,en,11806,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11805,88618,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618,en,S-adenosylhomocysteine hydrolase deficiency,en,1,13024,98006,Rare neurologic disease,en,11805,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11804,88616,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88616,en,Autosomal recessive non-syndromic intellectual disability,en,1,13024,98006,Rare neurologic disease,en,11804,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11802,87884,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87884,en,Non-syndromic genetic deafness,en,1,13054,98036,Rare otorhinolaryngologic disease,en,11802,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11801,87876,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876,en,Sialidosis type 2,en,1,10507,68367,Rare inborn errors of metabolism,en,11801,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11800,87503,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87503,en,Mal de Meleda,en,1,11896,89826,Rare skin disease,en,11800,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11796,86923,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86923,en,"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type",en,1,11896,89826,Rare skin disease,en,11796,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11793,86920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920,en,Dermatopathia pigmentosa reticularis,en,1,11896,89826,Rare skin disease,en,11793,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11792,86919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86919,en,Keratosis palmaris et plantaris-clinodactyly syndrome,en,1,11896,89826,Rare skin disease,en,11792,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11791,86918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86918,en,Diffuse palmoplantar keratoderma-acrocyanosis syndrome,en,1,11896,89826,Rare skin disease,en,11791,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11788,86915,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915,en,Lymphedema-atrial septal defects-facial changes syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11788,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27340,522077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077,en,Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,en,1,13024,98006,Rare neurologic disease,en,27340,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11786,86913,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86913,en,Myoclonic epilepsy in non-progressive encephalopathies,en,1,13024,98006,Rare neurologic disease,en,11786,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27338,522037,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522037,en,Primary autoimmune enteropathy,en,1,12954,97935,Rare gastroenterologic disease,en,27338,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11787,86914,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86914,en,Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11787,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11784,86909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86909,en,Myoclonic epilepsy of infancy,en,1,13024,98006,Rare neurologic disease,en,11784,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11785,86911,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86911,en,Epilepsy with myoclonic absences,en,1,13024,98006,Rare neurologic disease,en,11785,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11782,86906,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86906,en,Hypothalamic hamartomas with gelastic seizures,en,1,13024,98006,Rare neurologic disease,en,11782,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11783,86908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908,en,Idiopathic hemiconvulsion-hemiplegia syndrome,en,1,13024,98006,Rare neurologic disease,en,11783,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11780,86903,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86903,en,Dendritic cell sarcoma not otherwise specified,en,1,19592,250908,Rare neoplastic disease,en,11780,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27333,521450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521450,en,LAMA5-related multisystemic syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,27333,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11781,86904,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86904,en,Methotrexate-associated lymphoproliferative disorders,en,1,19592,250908,Rare neoplastic disease,en,11781,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27332,521445,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521445,en,Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27332,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27331,521438,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438,en,Congenital vertebral-cardiac-renal anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27331,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11778,86900,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86900,en,Interdigitating dendritic cell sarcoma,en,1,19592,250908,Rare neoplastic disease,en,11778,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27330,521432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521432,en,Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,en,1,10772,57146,Rare hepatic disease,en,27330,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11779,86902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86902,en,Follicular dendritic cell sarcoma,en,1,19592,250908,Rare neoplastic disease,en,11779,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27329,521426,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426,en,PLAA-associated neurodevelopmental disorder,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27329,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11776,86896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86896,en,Histiocytic sarcoma,en,1,19592,250908,Rare neoplastic disease,en,11776,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27328,521414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521414,en,Autosomal dominant Charcot-Marie-Tooth disease type 2DD,en,1,13024,98006,Rare neurologic disease,en,27328,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11777,86897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86897,en,Langerhans cell sarcoma,en,1,19592,250908,Rare neoplastic disease,en,11777,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27320,521258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258,en,Xq25 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27320,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27322,521305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521305,en,Proximal myopathy with focal depletion of mitochondria,en,1,13024,98006,Rare neurologic disease,en,27322,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27323,521308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521308,en,Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27323,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27324,521390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390,en,Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,en,1,13024,98006,Rare neurologic disease,en,27324,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27326,521406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406,en,Dystonia-parkinsonism-hypermanganesemia syndrome,en,1,13024,98006,Rare neurologic disease,en,27326,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11903,89838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89838,en,Autosomal recessive generalized epidermolysis bullosa simplex,en,1,11896,89826,Rare skin disease,en,11903,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27327,521411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411,en,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,en,1,13024,98006,Rare neurologic disease,en,27327,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27314,521123,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521123,en,Radiation-induced plexopathy,en,1,13024,98006,Rare neurologic disease,en,27314,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27315,521127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521127,en,Osteoradionecrosis of the mandible,en,1,12333,93419,Rare bone disease,en,27315,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27317,521219,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521219,en,Mirizzi syndrome,en,1,10772,57146,Rare hepatic disease,en,27317,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11881,88949,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88949,en,MUC1-related autosomal dominant tubulointerstitial kidney disease,en,1,12456,93626,Rare renal disease,en,11881,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11882,88950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950,en,UMOD-related autosomal dominant tubulointerstitial kidney disease,en,1,12456,93626,Rare renal disease,en,11882,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11872,88940,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88940,en,Pseudohypoaldosteronism type 2C,en,1,12456,93626,Rare renal disease,en,11872,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11871,88939,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88939,en,Pseudohypoaldosteronism type 2B,en,1,12456,93626,Rare renal disease,en,11871,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27294,519930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519930,en,Fungal keratitis,en,1,12984,97966,Rare ophthalmic disorder,en,27294,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11870,88938,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88938,en,Pseudohypoaldosteronism type 2A,en,1,12456,93626,Rare renal disease,en,11870,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11856,88924,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924,en,Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11856,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11850,88918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918,en,Autosomal dominant Alport syndrome,en,1,12456,93626,Rare renal disease,en,11850,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11851,88919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919,en,Autosomal recessive Alport syndrome,en,1,12456,93626,Rare renal disease,en,11851,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11849,88917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917,en,X-linked Alport syndrome,en,1,12456,93626,Rare renal disease,en,11849,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12199,93256,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93256,en,Fragile X-associated tremor/ataxia syndrome,en,1,13024,98006,Rare neurologic disease,en,12199,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27494,528105,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105,en,Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,en,1,12456,93626,Rare renal disease,en,27494,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27492,528091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528091,en,Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,27492,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27491,528084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528084,en,Non-specific syndromic intellectual disability,en,1,13024,98006,Rare neurologic disease,en,27491,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12205,93262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262,en,Crouzon syndrome-acanthosis nigricans syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12205,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12203,93260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260,en,Pfeiffer syndrome type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12203,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12202,93259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259,en,Pfeiffer syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12202,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12201,93258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258,en,Pfeiffer syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12201,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12214,93271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271,en,"Short rib-polydactyly syndrome, Verma-Naumoff type",en,1,12333,93419,Rare bone disease,en,12214,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12212,93269,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269,en,"Short rib-polydactyly syndrome, Majewski type",en,1,12333,93419,Rare bone disease,en,12212,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12213,93270,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270,en,"Short rib-polydactyly syndrome, Saldino-Noonan type",en,1,12333,93419,Rare bone disease,en,12213,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12210,93267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267,en,Cloverleaf skull-multiple congenital anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12210,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12211,93268,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268,en,"Short rib-polydactyly syndrome, Beemer-Langer type",en,1,12333,93419,Rare bone disease,en,12211,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12222,93282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282,en,"Spondyloepimetaphyseal dysplasia, PAPSS2 type",en,1,12333,93419,Rare bone disease,en,12222,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12223,93283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283,en,"Spondyloepiphyseal dysplasia, Kimberley type",en,1,12333,93419,Rare bone disease,en,12223,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12220,93279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279,en,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,en,1,12333,93419,Rare bone disease,en,12220,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12218,93276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93276,en,Polyostotic fibrous dysplasia,en,1,12333,93419,Rare bone disease,en,12218,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12219,93277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93277,en,Monostotic fibrous dysplasia,en,1,12333,93419,Rare bone disease,en,12219,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12216,93274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274,en,Thanatophoric dysplasia type 2,en,1,12333,93419,Rare bone disease,en,12216,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12165,93108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108,en,Renal dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12165,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27460,527497,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527497,en,NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,en,1,13024,98006,Rare neurologic disease,en,27460,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12164,93101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93101,en,Renal hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12164,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12167,93110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110,en,Posterior urethral valve,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12167,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12166,93109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93109,en,Congenital megacalycosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12166,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27457,527450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450,en,Severe myopia-generalized joint laxity-short stature syndrome,en,1,12333,93419,Rare bone disease,en,27457,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12160,91547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91547,en,Relapsing fever,en,1,10557,68416,Rare infectious disease,en,12160,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12163,93100,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100,en,"Renal agenesis, unilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,12163,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27458,527468,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468,en,Diaphragmatic hernia-short bowel-asplenia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27458,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12162,92050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050,en,Congenital tufting enteropathy,en,1,12954,97935,Rare gastroenterologic disease,en,12162,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12173,93160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160,en,Hypocalcemic vitamin D-resistant rickets,en,1,12333,93419,Rare bone disease,en,12173,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12174,93164,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93164,en,Transient pseudohypoaldosteronism,en,1,12456,93626,Rare renal disease,en,12174,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12169,93114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114,en,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,en,1,13024,98006,Rare neurologic disease,en,12169,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12168,93111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111,en,HNF1B-related autosomal dominant tubulointerstitial kidney disease,en,1,12996,97978,Rare endocrine disease,en,12168,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12170,93126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93126,en,Pauci-immune glomerulonephritis,en,1,12456,93626,Rare renal disease,en,12170,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12180,93177,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93177,en,Congenital bilateral megacalycosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12180,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12177,93172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172,en,"Renal dysplasia, unilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,12177,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12178,93173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173,en,"Renal dysplasia, bilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,12178,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12179,93176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93176,en,Unilateral congenital megacalycosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12179,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12259,93322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322,en,Tibial hemimelia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12259,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12258,93321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321,en,Radial hemimelia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12258,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12257,93320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93320,en,Ulnar hemimelia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12257,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12262,93325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325,en,Autosomal dominant Kenny-Caffey syndrome,en,1,12333,93419,Rare bone disease,en,12262,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12261,93324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324,en,Autosomal recessive Kenny-Caffey syndrome,en,1,12333,93419,Rare bone disease,en,12261,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12260,93323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93323,en,Fibular hemimelia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12260,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12265,93329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329,en,Autosomal recessive omodysplasia,en,1,12333,93419,Rare bone disease,en,12265,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12264,93328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93328,en,Autosomal dominant omodysplasia,en,1,12333,93419,Rare bone disease,en,12264,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12271,93336,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336,en,Polydactyly of a triphalangeal thumb,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12271,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12270,93335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335,en,Postaxial polydactyly type B,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12270,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12269,93334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334,en,Postaxial polydactyly type A,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12269,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12268,93333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333,en,Pelviscapular dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12268,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12274,93339,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339,en,Polydactyly of a biphalangeal thumb and/or hallux,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12274,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12272,93337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337,en,Polydactyly of an index finger,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12272,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27441,527276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276,en,Encephalopathy due to mitochondrial and peroxisomal fission defect,en,1,13024,98006,Rare neurologic disease,en,27441,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12273,93338,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338,en,Polysyndactyly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12273,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12283,93349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349,en,X-linked spondyloepimetaphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,12283,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12280,93346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346,en,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type",en,1,12333,93419,Rare bone disease,en,12280,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12281,93347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347,en,Anauxetic dysplasia,en,1,12333,93419,Rare bone disease,en,12281,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12287,93356,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356,en,"Spondyloepimetaphyseal dysplasia, Missouri type",en,1,12333,93419,Rare bone disease,en,12287,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12284,93351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93351,en,"Spondyloepimetaphyseal dysplasia, Irapa type",en,1,12333,93419,Rare bone disease,en,12284,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12285,93352,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352,en,"Spondyloepimetaphyseal dysplasia, Shohat type",en,1,12333,93419,Rare bone disease,en,12285,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12224,93284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284,en,Spondyloepiphyseal dysplasia tarda,en,1,12333,93419,Rare bone disease,en,12224,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12229,93292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93292,en,Adenoma of pancreas,en,1,17578,165711,Rare abdominal surgical disease,en,12229,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12230,93293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293,en,Okihiro syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12230,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12233,93296,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296,en,Achondrogenesis type 2,en,1,12333,93419,Rare bone disease,en,12233,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12235,93298,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298,en,Achondrogenesis type 1B,en,1,12333,93419,Rare bone disease,en,12235,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12234,93297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297,en,Hypochondrogenesis,en,1,12333,93419,Rare bone disease,en,12234,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12236,93299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299,en,Achondrogenesis type 1A,en,1,12333,93419,Rare bone disease,en,12236,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12239,93302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93302,en,"Brachyolmia, Maroteaux type",en,1,12333,93419,Rare bone disease,en,12239,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12241,93304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304,en,Autosomal dominant brachyolmia,en,1,12333,93419,Rare bone disease,en,12241,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12244,93307,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307,en,Multiple epiphyseal dysplasia type 4,en,1,12333,93419,Rare bone disease,en,12244,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12245,93308,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308,en,Multiple epiphyseal dysplasia type 1,en,1,12333,93419,Rare bone disease,en,12245,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12248,93311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311,en,Multiple epiphyseal dysplasia type 5,en,1,12333,93419,Rare bone disease,en,12248,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12251,93314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314,en,"Spondylometaphyseal dysplasia, Kozlowski type",en,1,12333,93419,Rare bone disease,en,12251,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12252,93315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315,en,"Spondylometaphyseal dysplasia, 'corner fracture' type",en,1,12333,93419,Rare bone disease,en,12252,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12253,93316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316,en,"Spondylometaphyseal dysplasia, Schmidt type",en,1,12333,93419,Rare bone disease,en,12253,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12254,93317,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317,en,"Spondylometaphyseal dysplasia, Sedaghatian type",en,1,12333,93419,Rare bone disease,en,12254,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27631,529962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529962,en,17q24.2 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27631,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27630,529864,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529864,en,Secondary erythromelalgia,en,1,13024,98006,Rare neurologic disease,en,27630,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27629,529852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529852,en,Combined hepatocellular carcinoma and cholangiocarcinoma,en,1,19592,250908,Rare neoplastic disease,en,27629,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12074,90673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90673,en,Hypothyroidism due to TSH receptor mutations,en,1,12996,97978,Rare endocrine disease,en,12074,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12075,90674,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674,en,Isolated thyroid-stimulating hormone deficiency,en,1,12996,97978,Rare endocrine disease,en,12075,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27624,529831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529831,en,Letrozole toxicity,en,1,15031,108999,Rare disorder due to toxic effects,en,27624,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27620,529808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529808,en,Chronic bilirubin encephalopathy,en,1,13024,98006,Rare neurologic disease,en,27620,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12066,90658,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90658,en,Charcot-Marie-Tooth disease type 1E,en,1,13024,98006,Rare neurologic disease,en,12066,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27619,529799,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529799,en,Acute bilirubin encephalopathy,en,1,13024,98006,Rare neurologic disease,en,27619,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12095,90791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791,en,Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12095,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12094,90790,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790,en,Congenital lipoid adrenal hyperplasia due to STAR deficency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12094,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27636,529980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529980,en,Inflammatory bowel disease-recurrent sinopulmonary infections syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,27636,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27637,530033,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530033,en,Dermoid or epidermoid cyst of the central nervous system,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27637,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27635,529977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529977,en,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,27635,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12081,90695,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695,en,Non-acquired panhypopituitarism,en,1,12996,97978,Rare endocrine disease,en,12081,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27632,529965,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529965,en,Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27632,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27633,529970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529970,en,Male infertility due to acephalic spermatozoa,en,1,13065,98047,Rare infertility,en,27633,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12044,90400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90400,en,Scleromyxedema without monoclonal gammopathy,en,1,11896,89826,Rare skin disease,en,12044,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12045,90625,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90625,en,Rare X-linked non-syndromic sensorineural deafness type DFN,en,1,13054,98036,Rare otorhinolaryngologic disease,en,12045,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12046,90635,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90635,en,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,en,1,13054,98036,Rare otorhinolaryngologic disease,en,12046,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12047,90636,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90636,en,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,en,1,13054,98036,Rare otorhinolaryngologic disease,en,12047,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12040,90396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90396,en,Acral persistent papular mucinosis,en,1,11896,89826,Rare skin disease,en,12040,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27593,529468,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529468,en,Monoclonal mast cell activation syndrome,en,1,19592,250908,Rare neoplastic disease,en,27593,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12041,90397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90397,en,Self-healing papular mucinosis,en,1,11896,89826,Rare skin disease,en,12041,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27595,529574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574,en,Duane retraction syndrome with congenital deafness,en,1,13054,98036,Rare otorhinolaryngologic disease,en,27595,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12042,90398,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90398,en,Localized lichen myxedematosus with mixed features of different subtypes,en,1,11896,89826,Rare skin disease,en,12042,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12043,90399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90399,en,Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms,en,1,11896,89826,Rare skin disease,en,12043,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12037,90393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90393,en,Nodular lichen myxedematosus,en,1,11896,89826,Rare skin disease,en,12037,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12038,90394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90394,en,Discrete papular lichen myxedematosus,en,1,11896,89826,Rare skin disease,en,12038,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12039,90395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90395,en,Papular mucinosis of infancy,en,1,11896,89826,Rare skin disease,en,12039,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12032,90368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90368,en,Hypotrichosis simplex of the scalp,en,1,11896,89826,Rare skin disease,en,12032,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12033,90389,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90389,en,Telangiectasia macularis eruptiva perstans,en,1,11896,89826,Rare skin disease,en,12033,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12034,90390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90390,en,Anonychia-onychodystrophy syndrome,en,1,11896,89826,Rare skin disease,en,12034,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12061,90653,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653,en,Stickler syndrome type 1,en,1,12333,93419,Rare bone disease,en,12061,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12060,90652,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652,en,Otopalatodigital syndrome type 2,en,1,12333,93419,Rare bone disease,en,12060,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12062,90654,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654,en,Stickler syndrome type 2,en,1,12333,93419,Rare bone disease,en,12062,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27609,529665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665,en,Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27609,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12056,90647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647,en,Jervell and Lange-Nielsen syndrome,en,1,12948,97929,Rare cardiac disease,en,12056,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12059,90650,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650,en,Otopalatodigital syndrome type 1,en,1,12333,93419,Rare bone disease,en,12059,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12055,90646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90646,en,Deafness-hypogonadism syndrome,en,1,13054,98036,Rare otorhinolaryngologic disease,en,12055,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12050,90641,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90641,en,Rare mitochondrial non-syndromic sensorineural deafness,en,1,13054,98036,Rare otorhinolaryngologic disease,en,12050,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12138,91387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91387,en,Familial thoracic aortic aneurysm and aortic dissection,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12138,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12139,91396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91396,en,Isolated cryptophthalmia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12139,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12142,91412,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91412,en,Marcus-Gunn syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,12142,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12143,91413,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91413,en,Congenital Horner syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,12143,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12140,91397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397,en,Isolated ankyloblepharon filiforme adnatum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12140,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12141,91411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411,en,Congenital ptosis,en,1,12984,97966,Rare ophthalmic disorder,en,12141,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12128,91354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91354,en,Pituitary deficiency due to empty sella turcica syndrome,en,1,12996,97978,Rare endocrine disease,en,12128,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12129,91355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91355,en,Sheehan syndrome,en,1,12996,97978,Rare endocrine disease,en,12129,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12134,91364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91364,en,Non-specific interstitial pneumonia,en,1,12974,97955,Rare respiratory disease,en,12134,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12132,91358,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91358,en,Congenital esophageal diverticulum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12132,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12133,91359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91359,en,Chronic pneumonitis of infancy,en,1,12974,97955,Rare respiratory disease,en,12133,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12155,91496,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496,en,Snowflake vitreoretinal degeneration,en,1,12984,97966,Rare ophthalmic disorder,en,12155,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12154,91495,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495,en,Persistent hyperplastic primary vitreous,en,1,12984,97966,Rare ophthalmic disorder,en,12154,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12153,91494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494,en,Macular coloboma-cleft palate-hallux valgus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12153,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12152,91492,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91492,en,Early-onset non-syndromic cataract,en,1,12984,97966,Rare ophthalmic disorder,en,12152,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12159,91546,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91546,en,Lyme disease,en,1,10557,68416,Rare infectious disease,en,12159,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12158,91500,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91500,en,Tubulointerstitial nephritis and uveitis syndrome,en,1,12456,93626,Rare renal disease,en,12158,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12157,91498,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91498,en,Familial congenital palsy of trochlear nerve,en,1,12984,97966,Rare ophthalmic disorder,en,12157,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12147,91481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91481,en,Ring dermoid of cornea,en,1,12984,97966,Rare ophthalmic disorder,en,12147,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12146,91416,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91416,en,Isolated congenital alacrima,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12146,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12144,91414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91414,en,Pilomatrixoma,en,1,11896,89826,Rare skin disease,en,12144,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12151,91491,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491,en,Congenital ectropion uveae,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12151,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12150,91490,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91490,en,Isolated congenital sclerocornea,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12150,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12149,91489,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91489,en,Isolated congenital megalocornea,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12149,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12148,91483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483,en,Rieger anomaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12148,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12104,91127,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91127,en,Adenovirus infection in immunocompromised patients,en,1,10557,68416,Rare infectious disease,en,12104,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12107,91130,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130,en,Cardiomyopathy-hypotonia-lactic acidosis syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,12107,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12108,91131,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131,en,DK1-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,12108,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12109,91132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132,en,Ichthyosis-hypotrichosis syndrome,en,1,11896,89826,Rare skin disease,en,12109,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12096,90793,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793,en,Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12096,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12097,90794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794,en,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12097,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12098,90795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795,en,Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12098,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12099,90796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796,en,"46,XY difference of sex development due to isolated 17,20-lyase deficiency",en,1,12469,93890,Rare developmental defect during embryogenesis,en,12099,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12100,90797,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797,en,Partial androgen insensitivity syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12100,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12121,91347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91347,en,TSH-secreting pituitary adenoma,en,1,12996,97978,Rare endocrine disease,en,12121,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12123,91349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91349,en,Non-functioning pituitary adenoma,en,1,12996,97978,Rare endocrine disease,en,12123,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12122,91348,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91348,en,Functioning gonadotropic adenoma,en,1,12996,97978,Rare endocrine disease,en,12122,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12125,91351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91351,en,Pituitary dermoid and epidermoid cysts,en,1,12996,97978,Rare endocrine disease,en,12125,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12124,91350,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91350,en,Pituitary deficiency due to Rathke cleft cysts,en,1,12996,97978,Rare endocrine disease,en,12124,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12126,91352,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352,en,Germinoma of the central nervous system,en,1,19592,250908,Rare neoplastic disease,en,12126,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12113,91136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91136,en,Acquired monoclonal Ig light chain-associated Fanconi syndrome,en,1,12456,93626,Rare renal disease,en,12113,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12112,91135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91135,en,Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,en,1,11896,89826,Rare skin disease,en,12112,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12115,91138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91138,en,Cryoglobulinemic vasculitis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,12115,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12117,91140,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91140,en,Unspecified juvenile idiopathic arthritis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,12117,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12116,91139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91139,en,Simple cryoglobulinemia,en,1,13010,97992,Rare hematologic disease,en,12116,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27541,528623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528623,en,Hereditary angioedema with C1Inh deficiency,en,1,13041,98023,Rare systemic or rheumatologic disease,en,27541,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27542,528647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528647,en,Hereditary angioedema with normal C1Inh,en,1,13041,98023,Rare systemic or rheumatologic disease,en,27542,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27543,528663,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528663,en,Acquired angioedema with C1Inh deficiency,en,1,13041,98023,Rare systemic or rheumatologic disease,en,27543,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11422,79396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79396,en,"Autosomal dominant generalized epidermolysis bullosa simplex, severe form",en,1,11896,89826,Rare skin disease,en,11422,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11423,79397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79397,en,Epidermolysis bullosa simplex with mottled pigmentation,en,1,11896,89826,Rare skin disease,en,11423,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11420,79394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394,en,Congenital ichthyosiform erythroderma,en,1,11896,89826,Rare skin disease,en,11420,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11421,79395,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395,en,Keratoderma hereditarium mutilans with ichthyosis,en,1,11896,89826,Rare skin disease,en,11421,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11440,79414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79414,en,Woolly hair nevus,en,1,11896,89826,Rare skin disease,en,11440,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11425,79399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79399,en,"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form",en,1,11896,89826,Rare skin disease,en,11425,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11427,79401,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401,en,PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,en,1,11896,89826,Rare skin disease,en,11427,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11426,79400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79400,en,Localized epidermolysis bullosa simplex,en,1,11896,89826,Rare skin disease,en,11426,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11429,79403,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79403,en,Junctional epidermolysis bullosa with pyloric atresia,en,1,11896,89826,Rare skin disease,en,11429,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11428,79402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402,en,Intermediate generalized junctional epidermolysis bullosa,en,1,11896,89826,Rare skin disease,en,11428,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11431,79405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79405,en,Junctional epidermolysis bullosa inversa,en,1,11896,89826,Rare skin disease,en,11431,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11430,79404,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404,en,Severe generalized junctional epidermolysis bullosa,en,1,11896,89826,Rare skin disease,en,11430,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11432,79406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79406,en,Late-onset junctional epidermolysis bullosa,en,1,11896,89826,Rare skin disease,en,11432,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11435,79409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79409,en,Recessive dystrophic epidermolysis bullosa inversa,en,1,11896,89826,Rare skin disease,en,11435,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11434,79408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408,en,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form",en,1,11896,89826,Rare skin disease,en,11434,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11437,79411,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79411,en,Self-improving dystrophic epidermolysis bullosa,en,1,11896,89826,Rare skin disease,en,11437,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11436,79410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410,en,"Localized dystrophic epidermolysis bullosa, pretibial form",en,1,11896,89826,Rare skin disease,en,11436,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11478,79452,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79452,en,Milroy disease,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11478,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11473,79447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79447,en,X-linked lethal multiple pterygium syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11473,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11482,79456,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79456,en,Diffuse cutaneous mastocytosis,en,1,11896,89826,Rare skin disease,en,11482,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11483,79457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79457,en,Maculopapular cutaneous mastocytosis,en,1,11896,89826,Rare skin disease,en,11483,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11481,79455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79455,en,Cutaneous mastocytoma,en,1,11896,89826,Rare skin disease,en,11481,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11461,79435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435,en,Oculocutaneous albinism type 4,en,1,11896,89826,Rare skin disease,en,11461,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11460,79434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434,en,Oculocutaneous albinism type 1B,en,1,11896,89826,Rare skin disease,en,11460,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11459,79433,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433,en,Oculocutaneous albinism type 3,en,1,11896,89826,Rare skin disease,en,11459,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11458,79432,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432,en,Oculocutaneous albinism type 2,en,1,11896,89826,Rare skin disease,en,11458,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11457,79431,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431,en,Oculocutaneous albinism type 1A,en,1,11896,89826,Rare skin disease,en,11457,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11456,79430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430,en,Hermansky-Pudlak syndrome,en,1,13022,98004,Rare immune disease,en,11456,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11471,79445,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445,en,Pseudopseudohypoparathyroidism,en,1,12996,97978,Rare endocrine disease,en,11471,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11470,79444,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444,en,Pseudohypoparathyroidism type 1C,en,1,12996,97978,Rare endocrine disease,en,11470,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11469,79443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443,en,Pseudohypoparathyroidism type 1A,en,1,12996,97978,Rare endocrine disease,en,11469,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11509,79483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79483,en,Phakomatosis cesioflammea,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11509,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11510,79484,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79484,en,Phakomatosis cesiomarmorata,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11510,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11511,79485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79485,en,Phakomatosis spilorosea,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11511,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11504,79478,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478,en,Griscelli syndrome type 3,en,1,11896,89826,Rare skin disease,en,11504,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11505,79479,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79479,en,Pemphigus vegetans,en,1,11896,89826,Rare skin disease,en,11505,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11506,79480,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79480,en,Pemphigus erythematosus,en,1,11896,89826,Rare skin disease,en,11506,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11507,79481,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79481,en,Pemphigus foliaceus,en,1,11896,89826,Rare skin disease,en,11507,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11516,79490,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79490,en,Microcystic lymphatic malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11516,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11518,79492,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79492,en,Pili gemini,en,1,11896,89826,Rare skin disease,en,11518,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11519,79493,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79493,en,Brooke-Spiegler syndrome,en,1,11896,89826,Rare skin disease,en,11519,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11515,79489,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79489,en,Macrocystic lymphatic malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11515,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11493,79467,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79467,en,Verrucous nevus,en,1,11896,89826,Rare skin disease,en,11493,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11492,79466,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79466,en,Inflammatory linear verrucous epidermal nevus,en,1,11896,89826,Rare skin disease,en,11492,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11494,79468,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79468,en,Acanthokeratolytic verrucous nevus,en,1,11896,89826,Rare skin disease,en,11494,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11500,79474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79474,en,Atypical Werner syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11500,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11503,79477,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477,en,Griscelli syndrome type 2,en,1,11896,89826,Rare skin disease,en,11503,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11502,79476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476,en,Griscelli syndrome type 1,en,1,11896,89826,Rare skin disease,en,11502,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11499,79473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473,en,Porphyria variegata,en,1,10507,68367,Rare inborn errors of metabolism,en,11499,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11290,79264,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264,en,Juvenile neuronal ceroid lipofuscinosis,en,1,13024,98006,Rare neurologic disease,en,11290,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11289,79263,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263,en,Infantile neuronal ceroid lipofuscinosis,en,1,13024,98006,Rare neurologic disease,en,11289,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11288,79262,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262,en,Adult neuronal ceroid lipofuscinosis,en,1,13024,98006,Rare neurologic disease,en,11288,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11295,79269,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269,en,Sanfilippo syndrome type A,en,1,10507,68367,Rare inborn errors of metabolism,en,11295,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11283,79257,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257,en,GM1 gangliosidosis type 3,en,1,10507,68367,Rare inborn errors of metabolism,en,11283,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11282,79256,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256,en,GM1 gangliosidosis type 2,en,1,10507,68367,Rare inborn errors of metabolism,en,11282,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11281,79255,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255,en,GM1 gangliosidosis type 1,en,1,10507,68367,Rare inborn errors of metabolism,en,11281,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11280,79254,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254,en,Classic phenylketonuria,en,1,10507,68367,Rare inborn errors of metabolism,en,11280,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11285,79259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259,en,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,en,1,10507,68367,Rare inborn errors of metabolism,en,11285,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11284,79258,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258,en,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,en,1,10507,68367,Rare inborn errors of metabolism,en,11284,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11272,79246,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246,en,Pyruvate dehydrogenase phosphatase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11272,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11279,79253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79253,en,Mild phenylketonuria,en,1,10507,68367,Rare inborn errors of metabolism,en,11279,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11266,79240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240,en,Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11266,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11267,79241,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241,en,Biotinidase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11267,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11264,79238,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238,en,Galactose epimerase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11264,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11265,79239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239,en,Classic galactosemia,en,1,10507,68367,Rare inborn errors of metabolism,en,11265,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11270,79244,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244,en,Pyruvate dehydrogenase E2 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11270,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11268,79242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79242,en,Holocarboxylase synthetase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11268,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11269,79243,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243,en,Pyruvate dehydrogenase E1-alpha deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11269,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11325,79299,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299,en,Congenital glucokinase-related hyperinsulinism,en,1,10507,68367,Rare inborn errors of metabolism,en,11325,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11327,79301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301,en,Congenital bile acid synthesis defect type 1,en,1,10772,57146,Rare hepatic disease,en,11327,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11319,79293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293,en,Familial LCAT deficiency,en,1,12996,97978,Rare endocrine disease,en,11319,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11318,79292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292,en,Fish-eye disease,en,1,12996,97978,Rare endocrine disease,en,11318,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11304,79278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278,en,Autosomal erythropoietic protoporphyria,en,1,10507,68367,Rare inborn errors of metabolism,en,11304,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11305,79279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279,en,Alpha-N-acetylgalactosaminidase deficiency type 1,en,1,10507,68367,Rare inborn errors of metabolism,en,11305,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11306,79280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280,en,Alpha-N-acetylgalactosaminidase deficiency type 2,en,1,10507,68367,Rare inborn errors of metabolism,en,11306,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11307,79281,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281,en,Alpha-N-acetylgalactosaminidase deficiency type 3,en,1,10507,68367,Rare inborn errors of metabolism,en,11307,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11308,79282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282,en,"Methylmalonic acidemia with homocystinuria, type cblC",en,1,10507,68367,Rare inborn errors of metabolism,en,11308,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11309,79283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283,en,"Methylmalonic acidemia with homocystinuria, type cblD",en,1,10507,68367,Rare inborn errors of metabolism,en,11309,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11310,79284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284,en,Methylmalonic acidemia with homocystinuria type cblF,en,1,10507,68367,Rare inborn errors of metabolism,en,11310,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11296,79270,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270,en,Sanfilippo syndrome type B,en,1,10507,68367,Rare inborn errors of metabolism,en,11296,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11297,79271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271,en,Sanfilippo syndrome type C,en,1,10507,68367,Rare inborn errors of metabolism,en,11297,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11298,79272,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272,en,Sanfilippo syndrome type D,en,1,10507,68367,Rare inborn errors of metabolism,en,11298,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11299,79273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273,en,Hereditary coproporphyria,en,1,10507,68367,Rare inborn errors of metabolism,en,11299,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11302,79276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276,en,Acute intermittent porphyria,en,1,10507,68367,Rare inborn errors of metabolism,en,11302,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11303,79277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277,en,Congenital erythropoietic porphyria,en,1,10507,68367,Rare inborn errors of metabolism,en,11303,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11359,79333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333,en,COG7-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11359,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11358,79332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332,en,B4GALT1-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11358,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11356,79330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330,en,MOGS-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11356,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11355,79329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329,en,MGAT2-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11355,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11354,79328,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328,en,ALG9-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11354,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11353,79327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327,en,ALG1-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11353,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11352,79326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326,en,ALG2-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11352,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11351,79325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325,en,ALG8-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11351,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11350,79324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324,en,ALG12-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11350,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11349,79323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323,en,MPDU1-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11349,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11348,79322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322,en,DPM1-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11348,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11347,79321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321,en,ALG3-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11347,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11346,79320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320,en,ALG6-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11346,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11345,79319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319,en,MPI-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11345,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11344,79318,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318,en,PMM2-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11344,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11340,79314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314,en,L-2-hydroxyglutaric aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,11340,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11341,79315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315,en,D-2-hydroxyglutaric aciduria,en,1,10507,68367,Rare inborn errors of metabolism,en,11341,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11338,79312,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312,en,Vitamin B12-unresponsive methylmalonic acidemia type mut-,en,1,10507,68367,Rare inborn errors of metabolism,en,11338,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11336,79310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310,en,Vitamin B12-responsive methylmalonic acidemia type cblA,en,1,10507,68367,Rare inborn errors of metabolism,en,11336,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11337,79311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311,en,Vitamin B12-responsive methylmalonic acidemia type cblB,en,1,10507,68367,Rare inborn errors of metabolism,en,11337,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11332,79306,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306,en,Progressive familial intrahepatic cholestasis type 1,en,1,10772,57146,Rare hepatic disease,en,11332,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11330,79304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304,en,Progressive familial intrahepatic cholestasis type 2,en,1,10772,57146,Rare hepatic disease,en,11330,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11331,79305,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305,en,Progressive familial intrahepatic cholestasis type 3,en,1,10772,57146,Rare hepatic disease,en,11331,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11328,79302,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302,en,Congenital bile acid synthesis defect type 3,en,1,10772,57146,Rare hepatic disease,en,11328,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11329,79303,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303,en,Congenital bile acid synthesis defect type 2,en,1,10772,57146,Rare hepatic disease,en,11329,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11377,79351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351,en,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form",en,1,13024,98006,Rare neurologic disease,en,11377,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11376,79350,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350,en,"3-phosphoserine phosphatase deficiency, infantile/juvenile form",en,1,13024,98006,Rare neurologic disease,en,11376,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11372,79346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79346,en,"Chondrodysplasia punctata, tibial-metacarpal type",en,1,12333,93419,Rare bone disease,en,11372,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11373,79347,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79347,en,"Chondrodysplasia punctata, Toriello type",en,1,12333,93419,Rare bone disease,en,11373,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11371,79345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345,en,Brachytelephalangic chondrodysplasia punctata,en,1,12333,93419,Rare bone disease,en,11371,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11649,85191,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191,en,Singleton-Merten dysplasia,en,1,12333,93419,Rare bone disease,en,11649,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11648,85188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85188,en,"Metaphyseal dysplasia, Braun-Tinschert type",en,1,12333,93419,Rare bone disease,en,11648,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11651,85193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193,en,Idiopathic juvenile osteoporosis,en,1,12333,93419,Rare bone disease,en,11651,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11650,85192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85192,en,Calvarial doughnut lesions-bone fragility syndrome,en,1,12333,93419,Rare bone disease,en,11650,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11653,85195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85195,en,Familial expansile osteolysis,en,1,12333,93419,Rare bone disease,en,11653,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11652,85194,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194,en,Spondylo-ocular syndrome,en,1,12333,93419,Rare bone disease,en,11652,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11655,85197,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85197,en,Genochondromatosis type 1,en,1,12333,93419,Rare bone disease,en,11655,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11657,85199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199,en,Craniosynostosis-anal anomalies-porokeratosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11657,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11656,85198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85198,en,Dysspondyloenchondromatosis,en,1,12333,93419,Rare bone disease,en,11656,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11659,85201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201,en,Genitopatellar syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11659,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11658,85200,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85200,en,Ischiovertebral syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11658,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11661,85203,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85203,en,Acropectoral syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11661,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11660,85202,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202,en,Keutel syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11660,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11663,85273,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85273,en,"X-linked intellectual disability, Abidi type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11663,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11662,85212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212,en,Fetal Gaucher disease,en,1,10507,68367,Rare inborn errors of metabolism,en,11662,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11664,85274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85274,en,Syndromic X-linked intellectual disability 7,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11664,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11665,85275,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275,en,Microphthalmia-ankyloblepharon-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11665,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11666,85276,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85276,en,"X-linked intellectual disability, Armfield type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11666,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11667,85277,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85277,en,"X-linked intellectual disability, Cantagrel type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11667,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11668,85278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278,en,Christianson syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11668,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11669,85279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279,en,KDM5C-related syndromic X-linked intellectual disability,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11669,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11670,85280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85280,en,X-linked intellectual disability-cubitus valgus-dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11670,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11672,85282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282,en,MEHMO syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11672,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11673,85283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85283,en,"X-linked intellectual disability, Miles-Carpenter type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11673,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11674,85284,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85284,en,BRESEK syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11674,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11675,85285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85285,en,"X-linked intellectual disability, Schimke type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11675,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11676,85286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85286,en,"X-linked intellectual disability, Shashi type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11676,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11677,85287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85287,en,"X-linked intellectual disability, Siderius type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11677,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11678,85288,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85288,en,"X-linked intellectual disability, Stocco Dos Santos type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11678,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11683,85293,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85293,en,"X-linked intellectual disability, Cabezas type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11683,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11682,85292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85292,en,X-linked spinocerebellar ataxia type 4,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11682,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11680,85290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85290,en,"X-linked intellectual disability, Wilson type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11680,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11687,85317,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85317,en,X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11687,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11686,85297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297,en,X-linked spinocerebellar ataxia type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11686,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11685,85295,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295,en,"HSD10 disease, atypical type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11685,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11684,85294,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85294,en,X-linked epilepsy-learning disabilities-behavior disorders syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11684,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11691,85321,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321,en,"Deafness-intellectual disability syndrome, Martin-Probst type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11691,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11690,85320,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85320,en,X-linked intellectual disability-macrocephaly-macroorchidism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11690,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11689,85319,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85319,en,X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11689,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11695,85325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85325,en,"X-linked intellectual disability, Stevenson type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11695,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11694,85324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85324,en,"X-linked intellectual disability, Shrimpton type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11694,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11693,85323,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85323,en,"X-linked intellectual disability, Seemanova type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11693,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11692,85322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85322,en,"X-linked intellectual disability, Pai type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11692,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11699,85329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85329,en,X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11699,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11696,85326,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85326,en,"X-linked intellectual disability, Stoll type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11696,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11697,85327,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85327,en,X-linked intellectual disability-acromegaly-hyperactivity syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11697,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11702,85332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85332,en,X-linked intellectual disability-retinitis pigmentosa syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11702,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11706,85336,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85336,en,"X-linked neurodegenerative syndrome, Hamel type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11706,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11704,85334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85334,en,"X-linked neurodegenerative syndrome, Bertini type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,11704,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11705,85335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85335,en,Fried syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11705,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11710,85410,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85410,en,Oligoarticular juvenile idiopathic arthritis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11710,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11711,85414,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85414,en,Systemic-onset juvenile idiopathic arthritis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11711,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11708,85338,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85338,en,X-linked intellectual disability-ataxia-apraxia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11708,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11709,85408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85408,en,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11709,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11717,85443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443,en,AL amyloidosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11717,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11716,85442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85442,en,Short stature-pituitary and cerebellar defects-small sella turcica syndrome,en,1,12996,97978,Rare endocrine disease,en,11716,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11719,85446,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85446,en,Wild type ABeta2M amyloidosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11719,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11718,85445,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445,en,AA amyloidosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11718,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11713,85436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85436,en,Psoriasis-related juvenile idiopathic arthritis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11713,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11712,85435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85435,en,Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11712,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11715,85438,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85438,en,Enthesitis-related juvenile idiopathic arthritis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11725,85458,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458,en,Hereditary cerebral hemorrhage with amyloidosis,en,1,13024,98006,Rare neurologic disease,en,11725,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11724,85453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453,en,X-linked reticulate pigmentary disorder,en,1,11896,89826,Rare skin disease,en,11724,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11727,86788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86788,en,X-linked severe congenital neutropenia,en,1,13022,98004,Rare immune disease,en,11727,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11726,86309,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309,en,DPAGT1-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,11726,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11721,85448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448,en,AGel amyloidosis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,11721,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11720,85447,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447,en,ATTRV30M amyloidosis,en,1,13024,98006,Rare neurologic disease,en,11720,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11723,85451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451,en,ATTRV122I amyloidosis,en,1,12948,97929,Rare cardiac disease,en,11723,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11722,85450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85450,en,Hereditary amyloidosis with primary renal involvement,en,1,12456,93626,Rare renal disease,en,11722,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11732,86812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812,en,POMT1-related limb-girdle muscular dystrophy R11,en,1,13024,98006,Rare neurologic disease,en,11732,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11733,86813,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86813,en,Helicoid peripapillary chorioretinal degeneration,en,1,12984,97966,Rare ophthalmic disorder,en,11733,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11734,86814,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86814,en,Benign adult familial myoclonic epilepsy,en,1,13024,98006,Rare neurologic disease,en,11734,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11735,86815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86815,en,Aplasia of lacrimal and salivary glands,en,1,12984,97966,Rare ophthalmic disorder,en,11735,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11728,86789,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86789,en,Patella aplasia/hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11728,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11731,86797,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86797,en,Atypical lichen myxedematosus,en,1,11896,89826,Rare skin disease,en,11731,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11740,86820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86820,en,Familial avascular necrosis of femoral head,en,1,12333,93419,Rare bone disease,en,11740,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11741,86821,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821,en,Lissencephaly type 3-familial fetal akinesia sequence syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11741,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11742,86822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822,en,Lissencephaly type 3-metacarpal bone dysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11742,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11736,86816,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86816,en,Congenital analbuminemia,en,1,13010,97992,Rare hematologic disease,en,11736,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26905,512017,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512017,en,Chronic lymphoproliferative disorder of natural killer cells,en,1,19592,250908,Rare neoplastic disease,en,26905,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11737,86817,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86817,en,Hemolytic anemia due to adenylate kinase deficiency,en,1,13010,97992,Rare hematologic disease,en,11737,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11738,86818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818,en,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11738,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11739,86819,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86819,en,Atrichia with papular lesions,en,1,11896,89826,Rare skin disease,en,11739,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11751,86843,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86843,en,Acute panmyelosis with myelofibrosis,en,1,19592,250908,Rare neoplastic disease,en,11751,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11750,86841,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86841,en,Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,en,1,19592,250908,Rare neoplastic disease,en,11750,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11749,86839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86839,en,Refractory anemia with excess blasts,en,1,19592,250908,Rare neoplastic disease,en,11749,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26917,512103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512103,en,Autosomal recessive epidermolytic ichthyosis,en,1,11896,89826,Rare skin disease,en,26917,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11747,86834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86834,en,Juvenile myelomonocytic leukemia,en,1,19592,250908,Rare neoplastic disease,en,11747,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11745,86830,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86830,en,"Chronic myeloproliferative disease, unclassifiable",en,1,19592,250908,Rare neoplastic disease,en,11745,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11744,86829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86829,en,Chronic neutrophilic leukemia,en,1,19592,250908,Rare neoplastic disease,en,11744,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11759,86855,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86855,en,Plasmacytoma,en,1,19592,250908,Rare neoplastic disease,en,11759,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,26926,512260,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260,en,Congenital cerebellar ataxia due to RNU12 mutation,en,1,13024,98006,Rare neurologic disease,en,26926,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11758,86854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86854,en,Splenic marginal zone lymphoma,en,1,19592,250908,Rare neoplastic disease,en,11758,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11757,86852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86852,en,B-cell prolymphocytic leukemia,en,1,19592,250908,Rare neoplastic disease,en,11757,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11755,86850,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86850,en,Myeloid sarcoma,en,1,19592,250908,Rare neoplastic disease,en,11755,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11754,86849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86849,en,Acute basophilic leukemia,en,1,19592,250908,Rare neoplastic disease,en,11754,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11752,86845,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86845,en,Acute myeloid leukaemia with myelodysplasia-related features,en,1,19592,250908,Rare neoplastic disease,en,11752,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11766,86872,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86872,en,T-cell large granular lymphocyte leukemia,en,1,19592,250908,Rare neoplastic disease,en,11766,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11767,86873,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86873,en,Aggressive NK-cell leukemia,en,1,19592,250908,Rare neoplastic disease,en,11767,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11764,86870,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86870,en,Blastic plasmacytoid dendritic cell neoplasm,en,1,19592,250908,Rare neoplastic disease,en,11764,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11765,86871,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86871,en,T-cell prolymphocytic leukemia,en,1,19592,250908,Rare neoplastic disease,en,11765,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11762,86867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86867,en,Nodal marginal zone B-cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,11762,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11763,86869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86869,en,Lymphomatoid granulomatosis,en,1,19592,250908,Rare neoplastic disease,en,11763,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11760,86861,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86861,en,Non-amyloid monoclonal immunoglobulin deposition disease,en,1,19592,250908,Rare neoplastic disease,en,11760,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11761,86864,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86864,en,Heavy chain disease,en,1,19592,250908,Rare neoplastic disease,en,11761,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11774,86886,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86886,en,Angioimmunoblastic T-cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,11774,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11775,86893,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86893,en,Nodular lymphocyte predominant Hodgkin lymphoma,en,1,19592,250908,Rare neoplastic disease,en,11775,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11772,86884,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884,en,Subcutaneous panniculitis-like T-cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,11772,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11773,86885,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885,en,Primary cutaneous peripheral T-cell lymphoma not otherwise specified,en,1,19592,250908,Rare neoplastic disease,en,11773,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11770,86880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880,en,Enteropathy-associated T-cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,11770,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11771,86882,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86882,en,Hepatosplenic T-cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,11771,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11768,86875,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875,en,Adult T-cell leukemia/lymphoma,en,1,19592,250908,Rare neoplastic disease,en,11768,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11769,86879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879,en,Extranodal nasal NK/T cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,11769,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11528,79502,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79502,en,Punctate palmoplantar keratoderma type 2,en,1,11896,89826,Rare skin disease,en,11528,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11529,79503,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79503,en,Ichthyosis hystrix of Curth-Macklin,en,1,11896,89826,Rare skin disease,en,11529,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11532,79506,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79506,en,Cholesterol-ester transfer protein deficiency,en,1,12996,97978,Rare endocrine disease,en,11532,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11533,79507,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79507,en,Hypotonia-failure to thrive-microcephaly syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,11533,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11521,79495,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79495,en,X-linked congenital generalized hypertrichosis,en,1,11896,89826,Rare skin disease,en,11521,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11525,79499,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499,en,Autosomal dominant deafness-onychodystrophy syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11525,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11526,79500,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500,en,DOORS syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11526,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11527,79501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79501,en,Punctate palmoplantar keratoderma type 1,en,1,11896,89826,Rare skin disease,en,11527,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11544,79665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79665,en,Gardner syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,11544,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11541,79643,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79643,en,Autosomal recessive hyperinsulinism due to SUR1 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11541,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11543,79651,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651,en,Mild hyperphenylalaninemia,en,1,10507,68367,Rare inborn errors of metabolism,en,11543,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11542,79644,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644,en,Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,11542,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11562,83317,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83317,en,Scrub typhus,en,1,10557,68416,Rare infectious disease,en,11562,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11563,83330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330,en,Proximal spinal muscular atrophy type 1,en,1,13024,98006,Rare neurologic disease,en,11563,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11560,83315,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83315,en,Murine typhus,en,1,10557,68416,Rare infectious disease,en,11560,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11561,83316,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83316,en,Pseudotyphus of California,en,1,10557,68416,Rare infectious disease,en,11561,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11566,83419,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83419,en,Proximal spinal muscular atrophy type 3,en,1,13024,98006,Rare neurologic disease,en,11566,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11567,83420,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83420,en,Proximal spinal muscular atrophy type 4,en,1,13024,98006,Rare neurologic disease,en,11567,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11565,83418,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83418,en,Proximal spinal muscular atrophy type 2,en,1,13024,98006,Rare neurologic disease,en,11565,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11558,83313,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83313,en,Boutonneuse fever,en,1,10557,68416,Rare infectious disease,en,11558,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11559,83314,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83314,en,Epidemic typhus,en,1,10557,68416,Rare infectious disease,en,11559,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11556,83311,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83311,en,Rocky Mountain spotted fever,en,1,10557,68416,Rare infectious disease,en,11556,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11557,83312,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83312,en,Rickettsialpox,en,1,10557,68416,Rare infectious disease,en,11557,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11579,83469,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83469,en,Desmoplastic small round cell tumor,en,1,19592,250908,Rare neoplastic disease,en,11579,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11578,83468,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83468,en,Solitary bone cyst,en,1,12333,93419,Rare bone disease,en,11578,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11577,83467,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83467,en,Morvan syndrome,en,1,13024,98006,Rare neurologic disease,en,11577,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11576,83465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83465,en,Narcolepsy type 2,en,1,13024,98006,Rare neurologic disease,en,11576,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11583,83476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83476,en,West-Nile encephalitis,en,1,10557,68416,Rare infectious disease,en,11583,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11582,83473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473,en,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11582,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11581,83472,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472,en,CAMOS syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11581,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11580,83471,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83471,en,T-cell immunodeficiency with thymic aplasia,en,1,13022,98004,Rare immune disease,en,11580,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11571,83452,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83452,en,Complex regional pain syndrome,en,1,13024,98006,Rare neurologic disease,en,11571,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11570,83451,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83451,en,Florid cemento-osseous dysplasia,en,1,13044,98026,Rare odontologic disease,en,11570,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11569,83450,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83450,en,Regional odontodysplasia,en,1,13044,98026,Rare odontologic disease,en,11569,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11575,83463,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83463,en,Microtia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11575,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11574,83461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461,en,Congenital primary aphakia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11574,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11573,83454,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454,en,Glomuvenous malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11573,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11572,83453,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83453,en,Vulvovaginal gingival syndrome,en,1,12845,96344,Rare gynecologic or obstetric disease,en,11572,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27125,514352,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514352,en,Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27125,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11597,83619,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83619,en,Macrostomia-preauricular tags-external ophthalmoplegia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11597,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11598,83620,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83620,en,Enteric anendocrinosis,en,1,12954,97935,Rare gastroenterologic disease,en,11598,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11599,83628,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628,en,LUMBAR syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11599,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11592,83601,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83601,en,Steroid-responsive encephalopathy associated with autoimmune thyroiditis,en,1,13024,98006,Rare neurologic disease,en,11592,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11594,83616,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83616,en,Rubella panencephalitis,en,1,10557,68416,Rare infectious disease,en,11594,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11595,83617,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617,en,Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11595,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11588,83594,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83594,en,Eastern equine encephalitis,en,1,10557,68416,Rare infectious disease,en,11588,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11589,83595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83595,en,Colorado tick fever,en,1,10557,68416,Rare infectious disease,en,11589,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11590,83597,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83597,en,Acute disseminated encephalomyelitis,en,1,13024,98006,Rare neurologic disease,en,11590,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11591,83600,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83600,en,Encephalitis lethargica,en,1,10557,68416,Rare infectious disease,en,11591,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11584,83482,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83482,en,Mycoplasma encephalitis,en,1,10557,68416,Rare infectious disease,en,11584,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11585,83483,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83483,en,La Crosse encephalitis,en,1,10557,68416,Rare infectious disease,en,11585,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11586,83484,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83484,en,St. Louis encephalitis,en,1,10557,68416,Rare infectious disease,en,11586,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11587,83593,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83593,en,Western equine encephalitis,en,1,10557,68416,Rare infectious disease,en,11587,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11613,84085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84085,en,Hinman syndrome,en,1,14860,101433,Rare urogenital disease,en,11613,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11612,84081,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84081,en,Senior-Boichis syndrome,en,1,12456,93626,Rare renal disease,en,11612,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11615,84090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84090,en,Fibronectin glomerulopathy,en,1,12456,93626,Rare renal disease,en,11615,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11614,84087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84087,en,Collagen type III glomerulopathy,en,1,12456,93626,Rare renal disease,en,11614,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11605,84064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064,en,Syndromic diarrhea,en,1,12954,97935,Rare gastroenterologic disease,en,11605,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11606,84065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84065,en,Idiopathic malabsorption due to bile acid synthesis defects,en,1,12954,97935,Rare gastroenterologic disease,en,11606,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27024,513436,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513436,en,Autosomal recessive spastic paraplegia type 78,en,1,13024,98006,Rare neurologic disease,en,27024,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11601,83639,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639,en,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,en,1,13010,97992,Rare hematologic disease,en,11601,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11600,83629,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629,en,Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,en,1,13024,98006,Rare neurologic disease,en,11600,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,27025,513456,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513456,en,Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,27025,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11602,83642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642,en,Microcytic anemia with liver iron overload,en,1,13010,97992,Rare hematologic disease,en,11602,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11630,85163,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163,en,Hypomyelination-congenital cataract syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11630,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11631,85164,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164,en,Camptodactyly-tall stature-scoliosis-hearing loss syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11631,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11628,85146,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85146,en,"Neurogenic scapuloperoneal syndrome, Kaeser type",en,1,13024,98006,Rare neurologic disease,en,11628,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11629,85162,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85162,en,Facial onset sensory and motor neuronopathy,en,1,13024,98006,Rare neurologic disease,en,11629,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11626,85138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85138,en,Addison disease,en,1,12996,97978,Rare endocrine disease,en,11626,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11624,85128,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85128,en,Bothnia retinal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,11624,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11625,85136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85136,en,Cystic leukoencephalopathy without megalencephaly,en,1,13024,98006,Rare neurologic disease,en,11625,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11622,85110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85110,en,Familial encephalopathy with neuroserpin inclusion bodies,en,1,13024,98006,Rare neurologic disease,en,11622,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11623,85112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112,en,Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11623,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11618,84132,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84132,en,Desmin-related myopathy with Mallory body-like inclusions,en,1,13024,98006,Rare neurologic disease,en,11618,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11619,84142,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84142,en,Isaacs syndrome,en,1,13024,98006,Rare neurologic disease,en,11619,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11616,84093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84093,en,Hereditary thermosensitive neuropathy,en,1,13024,98006,Rare neurologic disease,en,11616,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11647,85186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186,en,Endosteal sclerosis-cerebellar hypoplasia syndrome,en,1,12333,93419,Rare bone disease,en,11647,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11646,85184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85184,en,"Craniometadiaphyseal dysplasia, wormian bone type",en,1,12333,93419,Rare bone disease,en,11646,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11645,85182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182,en,Diaphyseal medullary stenosis-bone malignancy syndrome,en,1,12333,93419,Rare bone disease,en,11645,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11644,85179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179,en,Infantile osteopetrosis with neuroaxonal dysplasia,en,1,12333,93419,Rare bone disease,en,11644,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11642,85175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85175,en,Astley-Kendall dysplasia,en,1,12333,93419,Rare bone disease,en,11642,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11641,85174,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174,en,Pseudodiastrophic dysplasia,en,1,12333,93419,Rare bone disease,en,11641,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11640,85173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173,en,IMAGe syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11640,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11639,85172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172,en,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type",en,1,12333,93419,Rare bone disease,en,11639,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11637,85170,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85170,en,"Mesomelic dysplasia, Savarirayan type",en,1,12333,93419,Rare bone disease,en,11637,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11636,85169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169,en,Familial digital arthropathy-brachydactyly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,11636,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11635,85168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85168,en,Craniofacial conodysplasia,en,1,12333,93419,Rare bone disease,en,11635,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11634,85167,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167,en,Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,en,1,12333,93419,Rare bone disease,en,11634,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11633,85166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166,en,"Platyspondylic dysplasia, Torrance type",en,1,12333,93419,Rare bone disease,en,11633,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,11632,85165,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165,en,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,en,1,12333,93419,Rare bone disease,en,11632,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30613,603448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603448,en,Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30613,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30615,603515,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603515,en,Isolated female hypospadias,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30615,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30614,603494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494,en,Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30614,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30617,603689,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603689,en,KLHL7-related Bohring-Opitz-like syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30617,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30616,603684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684,en,KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30616,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30618,603694,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603694,en,KLHL7-related Crisponi/cold-induced sweating-like syndrome,en,1,13024,98006,Rare neurologic disease,en,30618,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30684,610573,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610573,en,CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome,en,1,13024,98006,Rare neurologic disease,en,30684,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30683,610569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569,en,KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30683,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30663,604680,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=604680,en,Symptomatic form of X-linked centronuclear myopathy in female carriers,en,1,13024,98006,Rare neurologic disease,en,30663,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30694,611256,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611256,en,Pontocerebellar hypoplasia type 12,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30694,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30692,611237,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611237,en,Parkinsonism with polyneuropathy,en,1,13024,98006,Rare neurologic disease,en,30692,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30693,611247,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247,en,Pontocerebellar hypoplasia type 11,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30693,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30690,611216,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611216,en,Aplastic anemia-intellectual disability-dwarfism syndrome,en,1,13010,97992,Rare hematologic disease,en,30690,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30691,611223,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223,en,EN1-related dorsoventral syndrome,en,1,12333,93419,Rare bone disease,en,30691,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30688,611201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201,en,Oculogastrointestinal-neurodevelopmental syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30688,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30689,611207,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207,en,Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome,en,1,12333,93419,Rare bone disease,en,30689,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30702,613267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613267,en,Pontocerebellar hypoplasia type 13,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30702,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30703,613274,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613274,en,Pontocerebellar hypoplasia type 14,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30703,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30475,600668,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600668,en,CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30475,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30474,600663,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600663,en,NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,en,1,13024,98006,Rare neurologic disease,en,30474,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30477,600691,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600691,en,Combined deficiency of factor VII and factor X,en,1,13010,97992,Rare hematologic disease,en,30477,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30478,600731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600731,en,Clark-Baraitser syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30478,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13284,98267,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98267,en,Genetic non-syndromic obesity,en,1,12996,97978,Rare endocrine disease,en,13284,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30552,601028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601028,en,Non-syndromic anorectal malformation with rectovaginal fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30552,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30553,601033,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601033,en,Non-syndromic anorectal malformation with H-type fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30553,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30548,601008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601008,en,Non-syndromic anorectal malformation with anal stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30548,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30549,601013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601013,en,Non-syndromic anorectal malformation with pouch colon,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30549,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30550,601018,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601018,en,Non-syndromic anorectal malformation with rectal atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30550,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30551,601023,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601023,en,Non-syndromic anorectal malformation with rectal stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30551,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30544,600984,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600984,en,Non-syndromic anorectal malformation with rectovesical fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30544,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30545,600993,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600993,en,Non-syndromic anorectal malformation with vestibular fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30545,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30546,600998,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600998,en,Non-syndromic cloacal malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30546,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30547,601002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601002,en,Non-syndromic anorectal malformation without fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30547,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30541,600961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600961,en,Non-syndromic anorectal malformation with rectourethral fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30541,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30540,600952,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600952,en,Non-syndromic anorectal malformation with perineal fistula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,30540,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30543,600975,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600975,en,"Non-syndromic anorectal malformation with rectourethral fistula, prostatic type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,30543,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30542,600966,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600966,en,"Non-syndromic anorectal malformation with rectourethral fistula, bulbar type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,30542,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12866,97244,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97244,en,Rigid spine syndrome,en,1,13024,98006,Rare neurologic disease,en,12866,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12871,97261,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97261,en,GRFoma,en,1,12996,97978,Rare endocrine disease,en,12871,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12869,97252,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97252,en,Mega-cisterna magna,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12869,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12868,97249,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249,en,Pontocerebellar hypoplasia type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12868,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12875,97279,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97279,en,Insulinoma,en,1,12996,97978,Rare endocrine disease,en,12875,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12874,97278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97278,en,PPoma,en,1,12996,97978,Rare endocrine disease,en,12874,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12879,97285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97285,en,Thyroid lymphoma,en,1,19592,250908,Rare neoplastic disease,en,12879,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12878,97283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283,en,Somatostatinoma,en,1,12996,97978,Rare endocrine disease,en,12878,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12877,97282,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97282,en,VIPoma,en,1,12996,97978,Rare endocrine disease,en,12877,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12876,97280,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97280,en,Glucagonoma,en,1,12996,97978,Rare endocrine disease,en,12876,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12882,97289,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97289,en,Thymic neuroendocrine tumor,en,1,19592,250908,Rare neoplastic disease,en,12882,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12883,97290,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97290,en,Familial papillary thyroid carcinoma with renal papillary neoplasia,en,1,19592,250908,Rare neoplastic disease,en,12883,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12880,97286,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286,en,Carney-Stratakis syndrome,en,1,19592,250908,Rare neoplastic disease,en,12880,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12881,97287,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97287,en,Bronchial neuroendocrine tumor,en,1,19592,250908,Rare neoplastic disease,en,12881,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12885,97292,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97292,en,Cardiogenic shock,en,1,12948,97929,Rare cardiac disease,en,12885,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12890,97332,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97332,en,Kienbock disease,en,1,12333,93419,Rare bone disease,en,12890,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12891,97335,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97335,en,Osgood-Schlatter disease,en,1,12333,93419,Rare bone disease,en,12891,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12888,97297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297,en,Bohring-Opitz syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12888,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12889,97330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97330,en,Thoracic outlet syndrome,en,1,12980,97962,Rare surgical thoracic disease,en,12889,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12894,97338,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97338,en,Melanoma of soft tissue,en,1,19592,250908,Rare neoplastic disease,en,12894,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12895,97339,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97339,en,Dural sinus malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12895,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12892,97336,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97336,en,Panner disease,en,1,12333,93419,Rare bone disease,en,12892,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12893,97337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97337,en,Sinding-Larsen-Johansson disease,en,1,12333,93419,Rare bone disease,en,12893,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12897,97341,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97341,en,Persistent placoid maculopathy,en,1,12984,97966,Rare ophthalmic disorder,en,12897,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12896,97340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97340,en,Hunter-McAlpine syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12896,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12901,97346,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346,en,ADan amyloidosis,en,1,13024,98006,Rare neurologic disease,en,12901,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12900,97345,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345,en,ABri amyloidosis,en,1,13024,98006,Rare neurologic disease,en,12900,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12904,97349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97349,en,Postencephalitic parkinsonism,en,1,13024,98006,Rare neurologic disease,en,12904,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12907,97352,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97352,en,Pellagra,en,1,11896,89826,Rare skin disease,en,12907,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12908,97353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97353,en,Dementia pugilistica,en,1,13024,98006,Rare neurologic disease,en,12908,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12911,97360,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360,en,Robinow syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12911,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12910,97355,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97355,en,Caribbean parkinsonism,en,1,13024,98006,Rare neurologic disease,en,12910,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12912,97361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97361,en,"Renal hypoplasia, unilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,12912,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12913,97362,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362,en,"Renal hypoplasia, bilateral",en,1,12469,93890,Rare developmental defect during embryogenesis,en,12913,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12914,97363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363,en,Unilateral multicystic dysplastic kidney,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12914,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12915,97364,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364,en,Bilateral multicystic dysplastic kidney,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12915,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12917,97366,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97366,en,Multiloculated renal cyst,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12917,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12918,97367,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97367,en,Renal tubular dysgenesis due to twin-twin transfusion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12918,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12919,97368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97368,en,Drug-related renal tubular dysgenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12919,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12920,97369,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369,en,Renal tubular dysgenesis of genetic origin,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12920,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12922,97548,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548,en,Right sided atrial isomerism,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12922,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12927,97560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97560,en,Primary membranous glomerulonephritis,en,1,12456,93626,Rare renal disease,en,12927,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12807,96183,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96183,en,Maternal uniparental disomy of chromosome 9,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12807,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12806,96182,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182,en,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12806,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12805,96181,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96181,en,Maternal uniparental disomy of chromosome 6,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12805,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12804,96180,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96180,en,Maternal uniparental disomy of chromosome 4,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12804,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12803,96179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96179,en,Maternal uniparental disomy of chromosome 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12803,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12802,96178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96178,en,Ring chromosome 16 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12802,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12801,96177,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96177,en,Ring chromosome 15 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12801,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12800,96176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96176,en,Ring chromosome 13 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12800,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12815,96191,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96191,en,Paternal uniparental disomy of chromosome 6,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12815,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12814,96190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96190,en,Paternal uniparental disomy of chromosome 5,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12814,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12812,96188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96188,en,Maternal uniparental disomy of chromosome 22,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12812,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12811,96187,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96187,en,Maternal uniparental disomy of chromosome 21,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12811,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12810,96186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96186,en,Maternal uniparental disomy of chromosome 20,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12810,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12809,96185,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96185,en,Maternal uniparental disomy of chromosome 16,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12809,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12808,96184,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184,en,Temple syndrome due to maternal uniparental disomy of chromosome 14,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12808,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12818,96194,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96194,en,Paternal uniparental disomy of chromosome 20,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12818,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12819,96195,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96195,en,Paternal uniparental disomy of chromosome 21,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12819,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12816,96192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96192,en,Paternal uniparental disomy of chromosome 7,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12816,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12817,96193,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193,en,Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12817,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12827,96253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253,en,Cushing disease,en,1,12996,97978,Rare endocrine disease,en,12827,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12825,96201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96201,en,X small rings,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12825,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12838,96269,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96269,en,Isolated partial vaginal agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12838,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12833,96264,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264,en,"49,XXXXY syndrome",en,1,12469,93890,Rare developmental defect during embryogenesis,en,12833,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12832,96263,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263,en,"48,XXXY syndrome",en,1,12469,93890,Rare developmental defect during embryogenesis,en,12832,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12835,96266,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266,en,Leydig cell hypoplasia due to partial LH resistance,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12835,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12834,96265,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265,en,Leydig cell hypoplasia due to complete LH resistance,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12834,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12843,96334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334,en,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12843,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12855,97214,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97214,en,Eisenmenger syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12855,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12860,97234,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234,en,Glycogen storage disease due to phosphoglycerate mutase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,12860,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12861,97238,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97238,en,Rippling muscle disease,en,1,13024,98006,Rare neurologic disease,en,12861,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12862,97239,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97239,en,Reducing body myopathy,en,1,13024,98006,Rare neurologic disease,en,12862,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12863,97240,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97240,en,Zebra body myopathy,en,1,13024,98006,Rare neurologic disease,en,12863,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12856,97229,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97229,en,Riboflavin transporter deficiency,en,1,13024,98006,Rare neurologic disease,en,12856,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12857,97230,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97230,en,Solar urticaria,en,1,11896,89826,Rare skin disease,en,12857,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12859,97232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97232,en,Fingerprint body myopathy,en,1,13024,98006,Rare neurologic disease,en,12859,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,30241,600194,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600194,en,Factor V Atlanta bleeding disorder,en,1,13010,97992,Rare hematologic disease,en,30241,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12942,97678,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97678,en,Maternal uniparental disomy of chromosome 13,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12942,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12937,97598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97598,en,Congenital renal artery stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12937,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12932,97567,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97567,en,Immunotactoid glomerulopathy,en,1,12456,93626,Rare renal disease,en,12932,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12930,97564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97564,en,Pauci-immune glomerulonephritis without ANCA,en,1,12456,93626,Rare renal disease,en,12930,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12931,97566,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97566,en,Non-amyloid fibrillary glomerulopathy,en,1,12456,93626,Rare renal disease,en,12931,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12929,97563,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97563,en,Pauci-immune glomerulonephritis with ANCA,en,1,12456,93626,Rare renal disease,en,12929,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12945,97685,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685,en,17q11 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12945,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12662,95707,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95707,en,Idiopathic isolated micropenis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12662,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12661,95706,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706,en,Non-syndromic posterior hypospadias,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12661,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12657,95702,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702,en,X-linked adrenal hypoplasia congenita,en,1,12996,97978,Rare endocrine disease,en,12657,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12670,95715,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95715,en,Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies,en,1,12996,97978,Rare endocrine disease,en,12670,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12671,95716,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95716,en,Familial thyroid dyshormonogenesis,en,1,12996,97978,Rare endocrine disease,en,12671,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12668,95713,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95713,en,Athyreosis,en,1,12996,97978,Rare endocrine disease,en,12668,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12667,95712,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95712,en,Thyroid ectopia,en,1,12996,97978,Rare endocrine disease,en,12667,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12645,95619,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95619,en,Post-traumatic pituitary deficiency,en,1,12996,97978,Rare endocrine disease,en,12645,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12640,95613,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95613,en,Pituitary apoplexy,en,1,12996,97978,Rare endocrine disease,en,12640,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12655,95700,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700,en,Familial adrenal hypoplasia with absent pituitary luteinizing hormone,en,1,12996,97978,Rare endocrine disease,en,12655,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12654,95699,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699,en,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12654,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12650,95626,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95626,en,Acquired central diabetes insipidus,en,1,12996,97978,Rare endocrine disease,en,12650,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12631,95507,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95507,en,Congenital anomaly of hepatic vein,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12631,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12636,95512,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95512,en,Adenohypophysitis,en,1,12996,97978,Rare endocrine disease,en,12636,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12637,95513,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95513,en,Panhypophysitis,en,1,12996,97978,Rare endocrine disease,en,12637,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12615,95491,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95491,en,Congenital coronary artery aneurysm,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12615,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12610,95486,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95486,en,Premature closure of the arterial duct,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12610,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12620,95496,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496,en,Pituitary stalk interruption syndrome,en,1,12996,97978,Rare endocrine disease,en,12620,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12618,95494,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494,en,"Combined pituitary hormone deficiencies, genetic forms",en,1,12996,97978,Rare endocrine disease,en,12618,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12594,95443,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95443,en,Mesocardia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12594,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12595,95448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448,en,Congenital aortic valve atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12595,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12592,95433,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433,en,Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,en,1,13024,98006,Rare neurologic disease,en,12592,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12593,95434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434,en,Autosomal recessive cerebellar ataxia-movement disorder syndrome,en,1,13024,98006,Rare neurologic disease,en,12593,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12598,95457,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95457,en,Tricuspid valve agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12598,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12597,95455,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95455,en,Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,en,1,11896,89826,Rare skin disease,en,12597,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12602,95462,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95462,en,Accessory tricuspid valve tissue,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12602,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12600,95459,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95459,en,Congenital tricuspid stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12600,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12601,95461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95461,en,Straddling or overriding tricuspid valve,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12601,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12606,95474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95474,en,Double-orifice mitral valve,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12606,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12605,95465,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95465,en,Cleft mitral valve,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12605,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12582,95232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232,en,Lissencephaly due to LIS1 mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12582,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12580,95159,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159,en,Hepatoerythropoietic porphyria,en,1,10507,68367,Rare inborn errors of metabolism,en,12580,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12587,95428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428,en,COG8-CDG,en,1,10507,68367,Rare inborn errors of metabolism,en,12587,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12586,95427,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95427,en,Secondary short bowel syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,12586,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12584,95409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95409,en,Acute adrenal insufficiency,en,1,12996,97978,Rare endocrine disease,en,12584,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12590,95431,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95431,en,Twin to twin transfusion syndrome,en,1,12845,96344,Rare gynecologic or obstetric disease,en,12590,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12589,95430,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430,en,Congenital tracheomalacia,en,1,13054,98036,Rare otorhinolaryngologic disease,en,12589,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12588,95429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95429,en,Angioma serpiginosum,en,1,11896,89826,Rare skin disease,en,12588,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12560,94091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94091,en,Mills syndrome,en,1,13024,98006,Rare neurologic disease,en,12560,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12561,94093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94093,en,Neuroleptic malignant syndrome,en,1,13024,98006,Rare neurologic disease,en,12561,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12563,94122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122,en,"Cerebellar ataxia, Cayman type",en,1,13024,98006,Rare neurologic disease,en,12563,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12564,94124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124,en,Spinocerebellar ataxia with axonal neuropathy type 1,en,1,13024,98006,Rare neurologic disease,en,12564,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12565,94125,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125,en,Recessive mitochondrial ataxia syndrome,en,1,13024,98006,Rare neurologic disease,en,12565,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12567,94147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147,en,Spinocerebellar ataxia type 7,en,1,13024,98006,Rare neurologic disease,en,12567,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12570,94150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94150,en,Anonychia congenita totalis,en,1,11896,89826,Rare skin disease,en,12570,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12545,94064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064,en,Deafness-infertility syndrome,en,1,13054,98036,Rare otorhinolaryngologic disease,en,12545,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12544,94063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063,en,12q14 microdeletion syndrome,en,1,12333,93419,Rare bone disease,en,12544,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12547,94066,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94066,en,Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12547,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12546,94065,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065,en,15q24 microdeletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12546,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12548,94068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068,en,Spondyloepiphyseal dysplasia congenita,en,1,12333,93419,Rare bone disease,en,12548,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12553,94083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94083,en,Partington syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12553,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12552,94080,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94080,en,Non-functioning paraganglioma,en,1,12996,97978,Rare endocrine disease,en,12552,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12555,94086,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94086,en,Blue diaper syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,12555,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12557,94088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94088,en,Hereditary renal hypouricemia,en,1,12456,93626,Rare renal disease,en,12557,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12556,94087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94087,en,Cytophagic histiocytic panniculitis,en,1,11896,89826,Rare skin disease,en,12556,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12559,94090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94090,en,Pseudohypoparathyroidism type 2,en,1,12996,97978,Rare endocrine disease,en,12559,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12558,94089,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089,en,Pseudohypoparathyroidism type 1B,en,1,12996,97978,Rare endocrine disease,en,12558,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12799,96175,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96175,en,Ring chromosome 11 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12799,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12797,96173,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96173,en,Ring chromosome 9 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12797,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12796,96172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96172,en,Ring chromosome 3 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12796,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12795,96171,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96171,en,Ring chromosome 2 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12795,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12794,96170,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96170,en,Emanuel syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12794,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12793,96169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169,en,Koolen-De Vries syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12793,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12792,96168,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96168,en,Monosomy 13q34,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12792,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12791,96167,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96167,en,Recombinant 8 syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12791,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12784,96160,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96160,en,Non-distal deletion 12q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12784,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12774,96150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96150,en,Distal deletion 14q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12774,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12772,96148,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96148,en,Distal deletion 10q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12772,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12773,96149,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96149,en,Distal deletion 12q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12773,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12771,96147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147,en,Kleefstra syndrome due to 9q34 microdeletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12771,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12769,96145,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96145,en,Distal deletion 4q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12769,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12753,96129,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96129,en,Distal deletion 19p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12753,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12749,96125,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125,en,Distal deletion 6p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12749,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12750,96126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96126,en,Distal deletion 7p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12750,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12745,96121,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96121,en,7q11.23 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12745,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12747,96123,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96123,en,Monosomy 22,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12747,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12736,96112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96112,en,Non-distal duplication 9q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12736,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12731,96107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96107,en,Distal duplication 20q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12731,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12730,96106,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96106,en,Distal duplication 16q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12730,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12729,96105,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96105,en,Distal duplication 13q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12729,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12733,96109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96109,en,Distal duplication 22q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12733,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12722,96098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96098,en,Distal duplication 6q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12722,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12721,96097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96097,en,Distal duplication 5q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12721,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12720,96096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96096,en,Distal duplication 4q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12720,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12727,96103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96103,en,Distal duplication 11q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12727,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12726,96102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96102,en,Distal duplication 10q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12726,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12725,96101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96101,en,Distal duplication 9q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12725,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12724,96100,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96100,en,Distal duplication 8q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12724,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12718,96094,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96094,en,Distal duplication 2q,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12718,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12719,96095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96095,en,3q26 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12719,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12716,96092,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96092,en,8p inverted duplication/deletion syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12716,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12696,96072,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96072,en,4p16.3 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12696,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12698,96074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96074,en,Distal duplication 7p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12698,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12700,96076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076,en,Beckwith-Wiedemann syndrome due to 11p15 microduplication,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12700,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12702,96078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96078,en,16p13.3 microduplication syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12702,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12693,96069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96069,en,Distal duplication 1p36,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12693,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12692,96068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96068,en,Mosaic trisomy 22,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12692,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12695,96071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96071,en,Distal duplication 3p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12695,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12694,96070,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96070,en,Distal duplication 2p,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12694,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12683,96059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96059,en,Mosaic trisomy 4,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12683,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12684,96060,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96060,en,Mosaic trisomy 5,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12684,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12685,96061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96061,en,Mosaic trisomy 8,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12685,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12687,96063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96063,en,Mosaic trisomy 10,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12687,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12672,95717,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95717,en,Idiopathic congenital hypothyroidism,en,1,12996,97978,Rare endocrine disease,en,12672,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12674,95719,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95719,en,Thyroid hemiagenesis,en,1,12996,97978,Rare endocrine disease,en,12674,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12675,95720,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95720,en,Thyroid hypoplasia,en,1,12996,97978,Rare endocrine disease,en,12675,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12677,95854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95854,en,Levocardia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12677,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12679,96055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96055,en,Tetrasomy 21,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12679,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29860,597623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597623,en,IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome,en,1,13024,98006,Rare neurologic disease,en,29860,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29862,597733,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597733,en,Oculocutaneous albinism type 8,en,1,11896,89826,Rare skin disease,en,29862,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29863,597738,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738,en,Luscan-Lumish syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,29863,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29868,597887,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597887,en,ALPI-related inflammatory bowel disease,en,1,12954,97935,Rare gastroenterologic disease,en,29868,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12397,93555,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93555,en,Mixed cryoglobulinemia type III,en,1,13041,98023,Rare systemic or rheumatologic disease,en,12397,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12396,93554,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93554,en,Mixed cryoglobulinemia type II,en,1,13041,98023,Rare systemic or rheumatologic disease,en,12396,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12399,93557,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93557,en,Light and heavy chain deposition disease,en,1,19592,250908,Rare neoplastic disease,en,12399,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29871,597939,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597939,en,Euthyroid dysprealbuminemic hyperthyroxinemia,en,1,12996,97978,Rare endocrine disease,en,29871,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12398,93556,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93556,en,Heavy chain deposition disease,en,1,19592,250908,Rare neoplastic disease,en,12398,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29864,597743,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743,en,SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,29864,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29865,597746,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746,en,Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,29865,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12394,93552,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552,en,Pediatric systemic lupus erythematosus,en,1,13041,98023,Rare systemic or rheumatologic disease,en,12394,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29867,597874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874,en,MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome,en,1,13024,98006,Rare neurologic disease,en,29867,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12404,93562,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562,en,AFib amyloidosis,en,1,12456,93626,Rare renal disease,en,12404,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29876,598216,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598216,en,Upper tract urothelial carcinoma,en,1,19592,250908,Rare neoplastic disease,en,29876,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29879,598603,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603,en,Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,29879,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29878,598363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598363,en,Multisystem inflammatory syndrome in children and adults,en,1,13041,98023,Rare systemic or rheumatologic disease,en,29878,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12400,93558,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93558,en,Light chain deposition disease,en,1,19592,250908,Rare neoplastic disease,en,12400,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29875,598164,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164,en,FOXG1 syndrome due to intragenic alteration,en,1,13024,98006,Rare neurologic disease,en,29875,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12402,93560,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560,en,AApoAI amyloidosis,en,1,12456,93626,Rare renal disease,en,12402,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12403,93561,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561,en,ALys amyloidosis,en,1,12456,93626,Rare renal disease,en,12403,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12413,93571,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93571,en,Dense deposit disease,en,1,12456,93626,Rare renal disease,en,12413,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12410,93568,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93568,en,Juvenile polymyositis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,12410,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12411,93569,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93569,en,Polymyalgia rheumatica,en,1,13041,98023,Rare systemic or rheumatologic disease,en,12411,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29831,597201,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597201,en,TRIM22-related inflammatory bowel disease,en,1,12954,97935,Rare gastroenterologic disease,en,29831,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12382,93474,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474,en,Scheie syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,12382,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12383,93476,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476,en,Hurler-Scheie syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,12383,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12381,93473,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473,en,Hurler syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,12381,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12321,93399,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399,en,Juvenile sialidosis type 2,en,1,10507,68367,Rare inborn errors of metabolism,en,12321,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12320,93398,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93398,en,Genochondromatosis type 2,en,1,12333,93419,Rare bone disease,en,12320,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12322,93400,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400,en,Congenital sialidosis type 2,en,1,10507,68367,Rare inborn errors of metabolism,en,12322,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29924,599373,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599373,en,STXBP1-related encephalopathy,en,1,13024,98006,Rare neurologic disease,en,29924,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12325,93403,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403,en,Syndactyly type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12325,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29925,599376,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599376,en,Hypomyelination of early myelinating structures,en,1,13024,98006,Rare neurologic disease,en,29925,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12324,93402,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93402,en,Syndactyly type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12324,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12327,93405,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405,en,Syndactyly type 4,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12327,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29926,599418,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599418,en,Hereditary angioedema with normal C1Inh not related to F12 or PLG variant,en,1,13041,98023,Rare systemic or rheumatologic disease,en,29926,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12326,93404,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404,en,Syndactyly type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12326,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29927,599480,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599480,en,Acquired hemophilia A,en,1,13010,97992,Rare hematologic disease,en,29927,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29928,599485,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599485,en,Acquired hemophilia B,en,1,13010,97992,Rare hematologic disease,en,29928,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12328,93406,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406,en,Syndactyly type 5,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12328,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29929,599490,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599490,en,Acquired factor V deficiency,en,1,13010,97992,Rare hematologic disease,en,29929,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12331,93409,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409,en,"Brachydactyly-syndactyly, Zhao type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,12331,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29930,599495,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599495,en,Acquired factor VII deficiency,en,1,13010,97992,Rare hematologic disease,en,29930,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29931,599501,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599501,en,Acquired factor X deficiency,en,1,13010,97992,Rare hematologic disease,en,29931,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29932,599507,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599507,en,Acquired factor XI deficiency,en,1,13010,97992,Rare hematologic disease,en,29932,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29933,599513,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599513,en,Acquired factor XIII deficiency,en,1,13010,97992,Rare hematologic disease,en,29933,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29934,599519,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599519,en,Factor V short isoforms-related bleeding disorder,en,1,13010,97992,Rare hematologic disease,en,29934,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29935,599579,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599579,en,Factor V Amsterdam bleeding disorder,en,1,13010,97992,Rare hematologic disease,en,29935,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12291,93360,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360,en,"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type",en,1,12333,93419,Rare bone disease,en,12291,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12289,93358,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93358,en,Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,en,1,12333,93419,Rare bone disease,en,12289,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12288,93357,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93357,en,SPONASTRIME dysplasia,en,1,12333,93419,Rare bone disease,en,12288,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29899,599082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599082,en,CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,29899,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12300,93372,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372,en,Familial hypocalciuric hypercalcemia type 1,en,1,12996,97978,Rare endocrine disease,en,12300,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12306,93382,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382,en,Brachydactyly type A6,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12306,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12307,93383,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93383,en,Brachydactyly type B,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12307,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12310,93387,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387,en,Brachydactyly type E,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12310,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12311,93388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388,en,Brachydactyly type A1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12311,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12308,93384,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384,en,Brachydactyly type C,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12308,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12318,93396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396,en,Brachydactyly type A2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12318,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12319,93397,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93397,en,Brachydactyly type A7,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12319,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12316,93394,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93394,en,Brachydactyly type A4,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12316,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29740,595356,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595356,en,Localized dystrophic epidermolysis bullosa,en,1,11896,89826,Rare skin disease,en,29740,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12527,93969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93969,en,Open spinal dysraphism with a myelomeningocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12527,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12522,93964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93964,en,Blepharospasm-oromandibular dystonia syndrome,en,1,13024,98006,Rare neurologic disease,en,12522,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12516,93958,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93958,en,Oromandibular dystonia,en,1,13024,98006,Rare neurologic disease,en,12516,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12540,94059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94059,en,Uremic pruritus,en,1,13010,97992,Rare hematologic disease,en,12540,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12539,94058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94058,en,Neovascular glaucoma,en,1,12984,97966,Rare ophthalmic disorder,en,12539,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12538,94056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94056,en,Humero-ulnar synostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12538,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12534,93976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93976,en,Anotia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12534,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12492,93932,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932,en,FG syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12492,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12490,93930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930,en,Bladder exstrophy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12490,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12488,93928,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928,en,Isolated epispadias,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12488,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12489,93929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929,en,Cloacal exstrophy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12489,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12486,93926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926,en,Midline interhemispheric variant of holoprosencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12486,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12484,93924,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924,en,Lobar holoprosencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12484,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12485,93925,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925,en,Alobar holoprosencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12485,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12482,93921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921,en,Full schwannomatosis,en,1,13024,98006,Rare neurologic disease,en,12482,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12511,93953,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93953,en,Familial thyroglossal duct cyst,en,1,12974,97955,Rare respiratory disease,en,12511,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12510,93952,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93952,en,"X-linked intellectual disability, Hedera type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,12510,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29724,595109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595109,en,Atypical Timothy syndrome,en,1,12948,97929,Rare cardiac disease,en,29724,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29725,595133,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595133,en,Perivascular epithelioid cell neoplasm,en,1,19592,250908,Rare neoplastic disease,en,29725,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12508,93950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93950,en,"X-linked intellectual disability, Sutherland-Haan type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,12508,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29722,595098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595098,en,Timothy syndrome type 1,en,1,12948,97929,Rare cardiac disease,en,29722,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12507,93947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93947,en,"X-linked intellectual disability, Golabi-Ito-Hall type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,12507,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29723,595105,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595105,en,Timothy syndrome type 2,en,1,12948,97929,Rare cardiac disease,en,29723,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12506,93946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93946,en,Hamel cerebro-palato-cardiac syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12506,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12505,93945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93945,en,"X-linked intellectual disability, Porteous type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,12505,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12501,93941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941,en,Laryngotracheoesophageal cleft type 4,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12501,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12500,93940,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93940,en,Laryngotracheoesophageal cleft type 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12500,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12499,93939,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93939,en,Laryngotracheoesophageal cleft type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12499,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12498,93938,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938,en,Laryngotracheoesophageal cleft type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,12498,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12449,93616,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616,en,Hemoglobin H disease,en,1,13010,97992,Rare hematologic disease,en,12449,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12453,93622,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622,en,Dent disease type 1,en,1,12456,93626,Rare renal disease,en,12453,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12454,93623,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623,en,Dent disease type 2,en,1,12456,93626,Rare renal disease,en,12454,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12464,93672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672,en,Juvenile dermatomyositis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,12464,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12466,93685,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93685,en,Unicentric Castleman disease,en,1,13010,97992,Rare hematologic disease,en,12466,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12426,93591,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93591,en,Infantile nephronophthisis,en,1,12456,93626,Rare renal disease,en,12426,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12427,93592,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93592,en,Juvenile nephronophthisis,en,1,12456,93626,Rare renal disease,en,12427,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12425,93589,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93589,en,Late-onset nephronophthisis,en,1,12456,93626,Rare renal disease,en,12425,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12431,93598,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598,en,Primary hyperoxaluria type 1,en,1,12456,93626,Rare renal disease,en,12431,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29762,596008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008,en,Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,29762,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12422,93583,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583,en,Congenital thrombotic thrombocytopenic purpura,en,1,13010,97992,Rare hematologic disease,en,12422,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12423,93585,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93585,en,Immune-mediated thrombotic thrombocytopenic purpura,en,1,13010,97992,Rare hematologic disease,en,12423,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12421,93581,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93581,en,Atypical hemolytic uremic syndrome with anti-factor H antibodies,en,1,12456,93626,Rare renal disease,en,12421,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12443,93610,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610,en,Distal renal tubular acidosis with anemia,en,1,12456,93626,Rare renal disease,en,12443,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29784,596759,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596759,en,Combined immunodeficiency due to RELA haploinsufficiency,en,1,13022,98004,Rare immune disease,en,29784,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12441,93608,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93608,en,Autosomal dominant distal renal tubular acidosis,en,1,12456,93626,Rare renal disease,en,12441,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12440,93607,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93607,en,Autosomal recessive proximal renal tubular acidosis,en,1,12456,93626,Rare renal disease,en,12440,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12446,93613,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93613,en,Cystinuria type B,en,1,12456,93626,Rare renal disease,en,12446,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29788,596937,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596937,en,Portosinusoidal vascular disease,en,1,10772,57146,Rare hepatic disease,en,29788,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12445,93612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93612,en,Cystinuria type A,en,1,12456,93626,Rare renal disease,en,12445,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29789,596941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596941,en,Incomplete septal cirrhosis,en,1,10772,57146,Rare hepatic disease,en,29789,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12435,93602,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93602,en,Xanthinuria type II,en,1,12456,93626,Rare renal disease,en,12435,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12434,93601,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93601,en,Xanthinuria type I,en,1,12456,93626,Rare renal disease,en,12434,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29776,596448,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596448,en,IgG4-related systemic disease,en,1,13041,98023,Rare systemic or rheumatologic disease,en,29776,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12433,93600,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600,en,Primary hyperoxaluria type 3,en,1,12456,93626,Rare renal disease,en,12433,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12432,93599,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599,en,Primary hyperoxaluria type 2,en,1,12456,93626,Rare renal disease,en,12432,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12439,93606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93606,en,Nephrogenic syndrome of inappropriate antidiuresis,en,1,12456,93626,Rare renal disease,en,12439,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29783,596753,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596753,en,VEXAS syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,29783,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,12438,93605,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93605,en,Bartter syndrome type 3,en,1,12456,93626,Rare renal disease,en,12438,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14109,99092,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99092,en,Interventricular septum aneurysm,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14109,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14111,99094,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99094,en,Laubry-Pezzi syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14111,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14104,99087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99087,en,Coronary ostial stenosis or atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14104,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14106,99089,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99089,en,Abnormal number of coronary ostia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14106,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14107,99090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99090,en,Malposition of a coronary ostium,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14107,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14100,99083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083,en,Pulmonary artery hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14100,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14101,99084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084,en,Peripheral pulmonary stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14101,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14096,99079,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079,en,Cervical aortic arch,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14096,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14098,99081,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081,en,Right aortic arch,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14098,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14099,99082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082,en,Dysphagia lusoria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14099,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14093,99076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076,en,Persistent fifth aortic arch,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14093,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14092,99075,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075,en,Encircling double aortic arch,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14092,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14095,99078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078,en,Neuhauser anomaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14095,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14094,99077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077,en,Kommerell diverticulum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14094,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14089,99072,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99072,en,Congenital patent ductus arteriosus aneurysm,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14089,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14088,99071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99071,en,Aorto-left ventricular tunnel,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14088,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14085,99068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99068,en,Complete atrioventricular septal defect-tetralogy of Fallot,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14085,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14084,99067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99067,en,Complete atrioventricular septal defect with ventricular hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14084,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14087,99070,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99070,en,Aorto-right ventricular tunnel,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14087,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14081,99064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99064,en,Straddling and/or overriding mitral valve,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14081,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14080,99063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99063,en,Shone complex,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14080,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14142,99125,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125,en,Congenital total pulmonary venous return anomaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14142,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14143,99126,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126,en,Congenital pulmonary vein atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14143,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14140,99123,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99123,en,Inferior vena cava interruption without azygos continuation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14140,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14141,99124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99124,en,Congenital partial pulmonary venous return anomaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14141,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14138,99121,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99121,en,Azygos continuation of the inferior vena cava,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14138,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14139,99122,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99122,en,Congenital stenosis of the inferior vena cava,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14139,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14136,99119,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99119,en,Right inferior vena cava connecting to left-sided atrium,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14136,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14137,99120,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99120,en,Persistent eustachian valve,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14137,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14134,99117,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99117,en,Coronary sinus stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14134,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14135,99118,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99118,en,Coronary sinus atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14135,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14130,99113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99113,en,Subaortic course of innominate vein,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14130,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14131,99114,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99114,en,Agenesis of the superior vena cava,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14131,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14128,99111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99111,en,Persistent left superior vena cava connecting to the roof of left-sided atrium,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14128,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14129,99112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99112,en,Absence of innominate vein,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14129,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14127,99110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99110,en,Right superior vena cava connecting to left-sided atrium,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14127,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14126,99109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99109,en,Persistent left superior vena cava connecting through coronary sinus to left-sided atrium,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14126,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14124,99107,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99107,en,Atrial septal aneurysm,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14124,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14123,99106,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99106,en,"Atrial septal defect, ostium primum type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,14123,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14122,99105,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99105,en,"Atrial septal defect, sinus venosus type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,14122,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14121,99104,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99104,en,"Atrial septal defect, coronary sinus type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,14121,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14120,99103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99103,en,"Atrial septal defect, ostium secundum type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,14120,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14119,99102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99102,en,Ectasia of the left atrial appendage,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14119,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14118,99101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99101,en,Ectasia of the right atrial appendage,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14118,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14117,99100,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99100,en,Juxtaposition of the atrial appendages,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14117,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14116,99099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99099,en,Cor triatriatum sinister,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14116,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14115,99098,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99098,en,Cor triatriatum dexter,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14115,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14112,99095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99095,en,Congenital Gerbode defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14112,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14164,99147,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99147,en,Acquired von Willebrand syndrome,en,1,13010,97992,Rare hematologic disease,en,14164,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29576,592850,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592850,en,Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies,en,1,13024,98006,Rare neurologic disease,en,29576,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29577,592856,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592856,en,Neuromyelitis optica spectrum disorder with anti-MOG antibodies,en,1,13024,98006,Rare neurologic disease,en,29577,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14152,99135,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99135,en,6-phosphogluconate dehydrogenase deficiency,en,1,13010,97992,Rare hematologic disease,en,14152,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29578,592869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592869,en,Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies,en,1,13024,98006,Rare neurologic disease,en,29578,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14155,99138,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99138,en,Hemolytic anemia due to erythrocyte adenosine deaminase overproduction,en,1,13010,97992,Rare hematologic disease,en,14155,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29579,592873,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592873,en,Acute transverse myelitis with anti-MOG antibodies,en,1,13024,98006,Rare neurologic disease,en,29579,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29580,592885,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592885,en,Isolated optic neuritis without anti-MOG antibodies,en,1,12984,97966,Rare ophthalmic disorder,en,29580,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29581,592888,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592888,en,Isolated optic neuritis with anti-MOG antibodies,en,1,12984,97966,Rare ophthalmic disorder,en,29581,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14156,99139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99139,en,Unstable hemoglobin disease,en,1,13010,97992,Rare hematologic disease,en,14156,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29582,592894,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592894,en,Acute disseminated encephalomyelitis with anti-MOG antibodies,en,1,13024,98006,Rare neurologic disease,en,29582,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29583,592900,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592900,en,Acute disseminated encephalomyelitis without anti-MOG antibodies,en,1,13024,98006,Rare neurologic disease,en,29583,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14158,99141,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141,en,Lymphedema-posterior choanal atresia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14158,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14147,99130,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99130,en,Congenital partial agenesis of pericardium,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14147,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14146,99129,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99129,en,Congenital complete agenesis of pericardium,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14146,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14148,99131,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99131,en,Pleuro-pericardial cyst,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14148,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14202,99329,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329,en,"48,XYYY syndrome",en,1,12469,93890,Rare developmental defect during embryogenesis,en,14202,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14203,99330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99330,en,"49,XYYYY syndrome",en,1,12469,93890,Rare developmental defect during embryogenesis,en,14203,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14200,99228,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228,en,Mosaic monosomy X,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14200,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14201,99324,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99324,en,Paternal uniparental disomy of chromosome 13,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14201,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14205,99361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99361,en,Familial medullary thyroid carcinoma,en,1,19592,250908,Rare neoplastic disease,en,14205,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14194,99177,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99177,en,Isolated distichiasis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14194,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14193,99176,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99176,en,Congenital eyelid retraction,en,1,12984,97966,Rare ophthalmic disorder,en,14193,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14199,99226,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226,en,Monosomy X,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14199,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14196,99179,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99179,en,Kandori fleck retina,en,1,12984,97966,Rare ophthalmic disorder,en,14196,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14187,99170,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99170,en,Tarsal kink syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,14187,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14186,99169,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99169,en,Epiblepharon,en,1,12984,97966,Rare ophthalmic disorder,en,14186,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14189,99172,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99172,en,Euryblepharon,en,1,12984,97966,Rare ophthalmic disorder,en,14189,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14188,99171,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99171,en,Isolated congenital ectropion,en,1,12984,97966,Rare ophthalmic disorder,en,14188,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14230,99657,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99657,en,"Primary dystonia, DYT2 type",en,1,13024,98006,Rare neurologic disease,en,14230,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14212,99429,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429,en,Complete androgen insensitivity syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14212,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14215,99642,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99642,en,"Spondyloepimetaphyseal dysplasia, Handigodu type",en,1,12333,93419,Rare bone disease,en,14215,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14210,99413,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413,en,Turner syndrome due to structural X chromosome anomalies,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14210,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14220,99647,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99647,en,Cheirospondyloenchondromatosis,en,1,12333,93419,Rare bone disease,en,14220,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14219,99646,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99646,en,Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,en,1,12333,93419,Rare bone disease,en,14219,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14261,99688,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99688,en,Dermotrichic syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14261,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29566,592574,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574,en,Menke-Hennekam syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,29566,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29564,592564,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592564,en,GNAO1-related developmental delay-seizures-movement disorder spectrum,en,1,13024,98006,Rare neurologic disease,en,29564,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29565,592570,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570,en,TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,29565,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14245,99672,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99672,en,Fried's tooth and nail syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14245,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14291,99718,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718,en,Leber plus disease,en,1,12984,97966,Rare ophthalmic disorder,en,14291,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29460,590539,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590539,en,Isolated melanotic schwannoma,en,1,19592,250908,Rare neoplastic disease,en,29460,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14298,99725,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99725,en,Pituitary gigantism,en,1,12996,97978,Rare endocrine disease,en,14298,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29441,589821,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821,en,Congenital-onset Steinert myotonic dystrophy,en,1,13024,98006,Rare neurologic disease,en,29441,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29443,589827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827,en,Juvenile-onset Steinert myotonic dystrophy,en,1,13024,98006,Rare neurologic disease,en,29443,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14274,99701,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701,en,Mesial temporal lobe epilepsy with hippocampal sclerosis,en,1,13024,98006,Rare neurologic disease,en,14274,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29442,589824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824,en,Childhood-onset Steinert myotonic dystrophy,en,1,13024,98006,Rare neurologic disease,en,29442,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29445,589833,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833,en,Late-onset Steinert myotonic dystrophy,en,1,13024,98006,Rare neurologic disease,en,29445,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29444,589830,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830,en,Adult-onset Steinert myotonic dystrophy,en,1,13024,98006,Rare neurologic disease,en,29444,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14277,99704,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704,en,Early-onset obesity-hyperphagia-severe developmental delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14277,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29447,589905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905,en,PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,en,1,12333,93419,Rare bone disease,en,29447,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29446,589856,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856,en,Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,29446,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14283,99710,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99710,en,Punctate acrokeratoderma freckle-like pigmentation,en,1,11896,89826,Rare skin disease,en,14283,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14323,99750,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750,en,Atypical progressive supranuclear palsy syndrome,en,1,13024,98006,Rare neurologic disease,en,14323,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14322,99749,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99749,en,Kostmann syndrome,en,1,13022,98004,Rare immune disease,en,14322,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14321,99748,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99748,en,Pontiac fever,en,1,10557,68416,Rare infectious disease,en,14321,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14330,99757,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99757,en,Embryonal rhabdomyosarcoma,en,1,19592,250908,Rare neoplastic disease,en,14330,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14329,99756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99756,en,Alveolar rhabdomyosarcoma,en,1,19592,250908,Rare neoplastic disease,en,14329,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14307,99734,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99734,en,Myotonia fluctuans,en,1,13024,98006,Rare neurologic disease,en,14307,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14304,99731,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731,en,Isolated sulfite oxidase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,14304,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14305,99732,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732,en,Sulfite oxidase deficiency due to molybdenum cofactor deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,14305,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14308,99735,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99735,en,Myotonia permanens,en,1,13024,98006,Rare neurologic disease,en,14308,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14309,99736,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99736,en,Acetazolamide-responsive myotonia,en,1,13024,98006,Rare neurologic disease,en,14309,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14314,99741,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741,en,King-Denborough syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14314,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14315,99742,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742,en,Amish lethal microcephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14315,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14318,99745,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99745,en,Typhoid,en,1,10557,68416,Rare infectious disease,en,14318,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13837,98820,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98820,en,Familial focal epilepsy with variable foci,en,1,13024,98006,Rare neurologic disease,en,13837,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13836,98819,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819,en,Familial temporal lobe epilepsy,en,1,13024,98006,Rare neurologic disease,en,13836,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13835,98818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98818,en,Landau-Kleffner syndrome,en,1,13024,98006,Rare neurologic disease,en,13835,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13833,98816,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98816,en,"Benign childhood occipital epilepsy, Gastaut type",en,1,13024,98006,Rare neurologic disease,en,13833,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13832,98815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98815,en,"Benign childhood occipital epilepsy, Panayiotopoulos type",en,1,13024,98006,Rare neurologic disease,en,13832,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13830,98813,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813,en,Hypohidrotic ectodermal dysplasia with immunodeficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13830,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13828,98811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811,en,Paroxysmal exertion-induced dyskinesia,en,1,13024,98006,Rare neurologic disease,en,13828,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13827,98810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810,en,Paroxysmal non-kinesigenic dyskinesia,en,1,13024,98006,Rare neurologic disease,en,13827,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13826,98809,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98809,en,Paroxysmal kinesigenic dyskinesia,en,1,13024,98006,Rare neurologic disease,en,13826,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13825,98808,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808,en,Autosomal dominant dopa-responsive dystonia,en,1,13024,98006,Rare neurologic disease,en,13825,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13824,98807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98807,en,"Primary dystonia, DYT13 type",en,1,13024,98006,Rare neurologic disease,en,13824,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13855,98838,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98838,en,Primary mediastinal large B-cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,13855,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13852,98835,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98835,en,Acute undifferentiated leukemia,en,1,19592,250908,Rare neoplastic disease,en,13852,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13850,98833,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98833,en,Acute myeloblastic leukemia without maturation,en,1,19592,250908,Rare neoplastic disease,en,13850,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13851,98834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98834,en,Acute myeloblastic leukemia with maturation,en,1,19592,250908,Rare neoplastic disease,en,13851,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13848,98831,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98831,en,Acute myeloid leukemia with 11q23 abnormalities,en,1,19592,250908,Rare neoplastic disease,en,13848,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13849,98832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98832,en,Acute myeloid leukemia with minimal differentiation,en,1,19592,250908,Rare neoplastic disease,en,13849,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13846,98829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98829,en,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),en,1,19592,250908,Rare neoplastic disease,en,13846,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13844,98827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98827,en,Unclassified myelodysplastic syndrome,en,1,19592,250908,Rare neoplastic disease,en,13844,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13842,98825,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98825,en,Unclassified myelodysplastic/myeloproliferative disease,en,1,19592,250908,Rare neoplastic disease,en,13842,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13843,98826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98826,en,Refractory anemia,en,1,19592,250908,Rare neoplastic disease,en,13843,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13840,98823,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98823,en,Chronic myelomonocytic leukemia,en,1,19592,250908,Rare neoplastic disease,en,13840,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13841,98824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98824,en,Atypical chronic myeloid leukemia,en,1,19592,250908,Rare neoplastic disease,en,13841,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13869,98852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98852,en,Desquamative interstitial pneumonia,en,1,12974,97955,Rare respiratory disease,en,13869,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13868,98851,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98851,en,Mast cell leukemia,en,1,19592,250908,Rare neoplastic disease,en,13868,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13870,98853,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853,en,Autosomal dominant Emery-Dreifuss muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,13870,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13865,98848,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98848,en,Indolent systemic mastocytosis,en,1,19592,250908,Rare neoplastic disease,en,13865,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13867,98850,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98850,en,Aggressive systemic mastocytosis,en,1,19592,250908,Rare neoplastic disease,en,13867,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13866,98849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98849,en,Systemic mastocytosis with associated hematologic neoplasm,en,1,19592,250908,Rare neoplastic disease,en,13866,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13861,98844,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98844,en,"Classic Hodgkin lymphoma, mixed cellularity type",en,1,19592,250908,Rare neoplastic disease,en,13861,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13860,98843,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98843,en,"Classic Hodgkin lymphoma, nodular sclerosis type",en,1,19592,250908,Rare neoplastic disease,en,13860,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13863,98846,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98846,en,"Classic Hodgkin lymphoma, lymphocyte-depleted type",en,1,19592,250908,Rare neoplastic disease,en,13863,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13862,98845,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98845,en,"Classic Hodgkin lymphoma, lymphocyte-rich type",en,1,19592,250908,Rare neoplastic disease,en,13862,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13856,98839,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98839,en,Intravascular large B-cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,13856,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13859,98842,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842,en,Lymphomatoid papulosis,en,1,19592,250908,Rare neoplastic disease,en,13859,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13858,98841,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98841,en,Anaplastic large cell lymphoma,en,1,19592,250908,Rare neoplastic disease,en,13858,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29437,589608,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608,en,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",en,1,12469,93890,Rare developmental defect during embryogenesis,en,29437,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29436,589595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589595,en,Mixed phenotype acute leukemia with t(v;11q23.3),en,1,19592,250908,Rare neoplastic disease,en,29436,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13885,98868,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98868,en,Southeast Asian ovalocytosis,en,1,13010,97992,Rare hematologic disease,en,13885,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13886,98869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98869,en,Congenital dyserythropoietic anemia type I,en,1,13010,97992,Rare hematologic disease,en,13886,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29438,589618,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589618,en,Dystonia 28,en,1,13024,98006,Rare neurologic disease,en,29438,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13887,98870,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98870,en,Congenital dyserythropoietic anemia type III,en,1,13010,97992,Rare hematologic disease,en,13887,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29433,589534,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589534,en,Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),en,1,19592,250908,Rare neoplastic disease,en,29433,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13880,98863,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863,en,X-linked Emery-Dreifuss muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,13880,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29432,589527,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589527,en,Spinocerebellar ataxia type 45,en,1,13024,98006,Rare neurologic disease,en,29432,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29435,589547,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589547,en,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",en,1,13024,98006,Rare neurologic disease,en,29435,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29434,589542,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589542,en,Myeloid/lymphoid neoplasm associated with JAK2 rearrangement,en,1,19592,250908,Rare neoplastic disease,en,29434,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29429,589442,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442,en,Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,29429,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29428,589435,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435,en,Spondylometaphyseal dysplasia-corneal dystrophy syndrome,en,1,12333,93419,Rare bone disease,en,29428,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29431,589522,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589522,en,Spinocerebellar ataxia type 46,en,1,13024,98006,Rare neurologic disease,en,29431,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29430,589515,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515,en,PUM1-associated developmental disability-ataxia-seizure syndrome,en,1,13024,98006,Rare neurologic disease,en,29430,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13872,98855,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855,en,Autosomal recessive Emery-Dreifuss muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,13872,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13873,98856,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98856,en,Charcot-Marie-Tooth disease type 2B1,en,1,13024,98006,Rare neurologic disease,en,13873,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13898,98881,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98881,en,Familial dysfibrinogenemia,en,1,13010,97992,Rare hematologic disease,en,13898,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13897,98880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98880,en,Familial afibrinogenemia,en,1,13010,97992,Rare hematologic disease,en,13897,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13896,98879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98879,en,Hemophilia B,en,1,13010,97992,Rare hematologic disease,en,13896,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13903,98886,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98886,en,Bleeding diathesis due to integrin alpha2-beta1 deficiency,en,1,13010,97992,Rare hematologic disease,en,13903,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13902,98885,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98885,en,Bleeding diathesis due to glycoprotein VI deficiency,en,1,13010,97992,Rare hematologic disease,en,13902,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13890,98873,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873,en,Congenital dyserythropoietic anemia type II,en,1,13010,97992,Rare hematologic disease,en,13890,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13889,98872,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98872,en,Primary acquired pure red cell aplasia,en,1,13010,97992,Rare hematologic disease,en,13889,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13888,98871,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98871,en,Transient erythroblastopenia of childhood,en,1,13010,97992,Rare hematologic disease,en,13888,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13895,98878,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98878,en,Hemophilia A,en,1,13010,97992,Rare hematologic disease,en,13895,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13914,98897,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897,en,Oculopharyngodistal myopathy,en,1,13024,98006,Rare neurologic disease,en,13914,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13912,98895,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895,en,Becker muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,13912,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13913,98896,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896,en,Duchenne muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,13913,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13919,98902,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98902,en,Amish nemaline myopathy,en,1,13024,98006,Rare neurologic disease,en,13919,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13906,98889,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889,en,Bilateral perisylvian polymicrogyria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13906,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13907,98890,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98890,en,Early-onset X-linked optic atrophy,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13907,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13910,98893,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98893,en,Congenital muscular dystrophy type 1B,en,1,13024,98006,Rare neurologic disease,en,13910,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13909,98892,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892,en,Periventricular nodular heterotopia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13909,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13929,98912,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98912,en,"Late-onset distal myopathy, Markesbery-Griggs type",en,1,13024,98006,Rare neurologic disease,en,13929,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13928,98911,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98911,en,Distal myotilinopathy,en,1,13024,98006,Rare neurologic disease,en,13928,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13931,98914,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914,en,Presynaptic congenital myasthenic syndromes,en,1,13024,98006,Rare neurologic disease,en,13931,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13930,98913,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913,en,Postsynaptic congenital myasthenic syndromes,en,1,13024,98006,Rare neurologic disease,en,13930,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13933,98916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98916,en,Acute inflammatory demyelinating polyradiculoneuropathy,en,1,13024,98006,Rare neurologic disease,en,13933,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13932,98915,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915,en,Synaptic congenital myasthenic syndromes,en,1,13024,98006,Rare neurologic disease,en,13932,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13935,98918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98918,en,Acute motor axonal neuropathy,en,1,13024,98006,Rare neurologic disease,en,13935,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13934,98917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98917,en,Acute motor and sensory axonal neuropathy,en,1,13024,98006,Rare neurologic disease,en,13934,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13921,98904,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98904,en,Congenital myopathy with excess of thin filaments,en,1,13024,98006,Rare neurologic disease,en,13921,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13922,98905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98905,en,Congenital multicore myopathy with external ophthalmoplegia,en,1,13024,98006,Rare neurologic disease,en,13922,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13925,98908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908,en,Neutral lipid storage myopathy,en,1,13024,98006,Rare neurologic disease,en,13925,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13924,98907,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907,en,Neutral lipid storage disease with ichthyosis,en,1,11896,89826,Rare skin disease,en,13924,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13926,98909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909,en,Desminopathy,en,1,13024,98006,Rare neurologic disease,en,13926,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13950,98933,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98933,en,"Multiple system atrophy, parkinsonian type",en,1,13024,98006,Rare neurologic disease,en,13950,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13951,98934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934,en,Huntington disease-like 2,en,1,13024,98006,Rare neurologic disease,en,13951,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13936,98919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98919,en,Miller Fisher syndrome,en,1,13024,98006,Rare neurologic disease,en,13936,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13937,98920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98920,en,Spinal muscular atrophy with respiratory distress type 1,en,1,13024,98006,Rare neurologic disease,en,13937,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13939,98922,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98922,en,Blake pouch cyst,en,1,13024,98006,Rare neurologic disease,en,13939,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13959,98942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942,en,Coloboma of choroid and retina,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13959,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13955,98938,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98938,en,Colobomatous microphthalmia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13955,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13966,98949,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98949,en,Complete cryptophthalmia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13966,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13967,98950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98950,en,Partial cryptophthalmia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13967,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13964,98947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98947,en,Coloboma of optic disc,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13964,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13965,98948,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98948,en,Congenital symblepharon,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13965,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13962,98945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945,en,Coloboma of macula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13962,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13963,98946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98946,en,Coloboma of eyelid,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13963,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13960,98943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98943,en,Coloboma of eye lens,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13960,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13961,98944,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944,en,Coloboma of iris,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13961,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13975,98958,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98958,en,Climatic droplet keratopathy,en,1,12984,97966,Rare ophthalmic disorder,en,13975,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13974,98957,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98957,en,Gelatinous drop-like corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13974,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13973,98956,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98956,en,Epithelial basement membrane dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13973,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13972,98955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98955,en,Lisch epithelial corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13972,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13971,98954,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98954,en,Meesmann corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13971,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13968,98951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98951,en,Inverse Marcus-Gunn phenomenon,en,1,12984,97966,Rare ophthalmic disorder,en,13968,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13981,98964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98964,en,Lattice corneal dystrophy type I,en,1,12984,97966,Rare ophthalmic disorder,en,13981,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13980,98963,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98963,en,Granular corneal dystrophy type II,en,1,12984,97966,Rare ophthalmic disorder,en,13980,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13979,98962,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98962,en,Granular corneal dystrophy type I,en,1,12984,97966,Rare ophthalmic disorder,en,13979,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13978,98961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98961,en,Reis-Bcklers corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13978,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13977,98960,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98960,en,Thiel-Behnke corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13977,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13976,98959,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98959,en,Subepithelial mucinous corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13976,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13988,98971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98971,en,Posterior amorphous corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13988,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13989,98972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98972,en,Central cloudy dystrophy of Franois,en,1,12984,97966,Rare ophthalmic disorder,en,13989,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13990,98973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973,en,Posterior polymorphous corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13990,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13991,98974,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98974,en,Fuchs endothelial corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13991,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13984,98967,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98967,en,Schnyder corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13984,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13986,98969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98969,en,Macular corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13986,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13987,98970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98970,en,Fleck corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13987,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13996,98979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98979,en,Chandler syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,13996,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13997,98980,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98980,en,Cogan-Reese syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,13997,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13998,98981,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98981,en,Essential iris atrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13998,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13992,98975,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98975,en,Congenital hereditary endothelial dystrophy type I,en,1,12984,97966,Rare ophthalmic disorder,en,13992,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13993,98976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98976,en,Congenital glaucoma,en,1,12984,97966,Rare ophthalmic disorder,en,13993,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13994,98977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98977,en,Juvenile glaucoma,en,1,12984,97966,Rare ophthalmic disorder,en,13994,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13995,98978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978,en,Axenfeld anomaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13995,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14005,98988,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98988,en,Early-onset anterior polar cataract,en,1,12984,97966,Rare ophthalmic disorder,en,14005,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14007,98990,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98990,en,Coralliform cataract,en,1,12984,97966,Rare ophthalmic disorder,en,14007,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14006,98989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98989,en,Cerulean cataract,en,1,12984,97966,Rare ophthalmic disorder,en,14006,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14001,98984,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98984,en,Pulverulent cataract,en,1,12984,97966,Rare ophthalmic disorder,en,14001,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14002,98985,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98985,en,Early-onset sutural cataract,en,1,12984,97966,Rare ophthalmic disorder,en,14002,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14012,98995,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98995,en,Early-onset zonular cataract,en,1,12984,97966,Rare ophthalmic disorder,en,14012,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14009,98992,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98992,en,Early-onset partial cataract,en,1,12984,97966,Rare ophthalmic disorder,en,14009,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14008,98991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98991,en,Early-onset nuclear cataract,en,1,12984,97966,Rare ophthalmic disorder,en,14008,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14011,98994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98994,en,Total early-onset cataract,en,1,12984,97966,Rare ophthalmic disorder,en,14011,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14010,98993,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98993,en,Early-onset posterior polar cataract,en,1,12984,97966,Rare ophthalmic disorder,en,14010,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14018,99001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99001,en,Butterfly-shaped pigment dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,14018,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14019,99002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99002,en,Reticular dystrophy of the retinal pigment epithelium,en,1,12984,97966,Rare ophthalmic disorder,en,14019,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14017,99000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99000,en,Adult-onset foveomacular vitelliform dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,14017,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14020,99003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99003,en,Multifocal pattern dystrophy simulating fundus flavimaculatus,en,1,12984,97966,Rare ophthalmic disorder,en,14020,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14021,99004,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99004,en,Fundus pulverulentus,en,1,12984,97966,Rare ophthalmic disorder,en,14021,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14030,99013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013,en,Spastic paraplegia type 7,en,1,13024,98006,Rare neurologic disease,en,14030,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14031,99014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014,en,X-linked Charcot-Marie-Tooth disease type 5,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14031,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14032,99015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015,en,Spastic paraplegia type 2,en,1,13024,98006,Rare neurologic disease,en,14032,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29204,585867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585867,en,Acute myeloid leukemia with t(9;22)(q34.1;q11.2),en,1,19592,250908,Rare neoplastic disease,en,29204,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29205,585877,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585877,en,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,en,1,19592,250908,Rare neoplastic disease,en,29205,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29211,585909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585909,en,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),en,1,19592,250908,Rare neoplastic disease,en,29211,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29214,585936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585936,en,B-lymphoblastic leukemia/lymphoma with hyperdiploidy,en,1,19592,250908,Rare neoplastic disease,en,29214,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29215,585942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585942,en,B-lymphoblastic leukemia/lymphoma with hypodiploidy,en,1,19592,250908,Rare neoplastic disease,en,29215,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29212,585918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585918,en,B-lymphoblastic leukemia/lymphoma with t(v;11q23.3),en,1,19592,250908,Rare neoplastic disease,en,29212,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29213,585929,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585929,en,B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),en,1,19592,250908,Rare neoplastic disease,en,29213,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14044,99027,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027,en,Adult-onset autosomal dominant leukodystrophy,en,1,13024,98006,Rare neurologic disease,en,14044,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29217,585956,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585956,en,B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),en,1,19592,250908,Rare neoplastic disease,en,29217,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29216,585948,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585948,en,B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3),en,1,19592,250908,Rare neoplastic disease,en,29216,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29226,586130,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586130,en,Sporadic fatal insomnia,en,1,13024,98006,Rare neurologic disease,en,29226,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14059,99042,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99042,en,Congenitally uncorrected transposition of the great arteries with coarctation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14059,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14060,99043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99043,en,Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14060,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14062,99045,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99045,en,Double outlet right ventricle with subpulmonary ventricular septal defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14062,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14063,99046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99046,en,Double outlet right ventricle with non-committed subpulmonary ventricular septal defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14063,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14065,99048,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048,en,Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14065,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14067,99050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99050,en,Abnormal origin of right or left pulmonary artery from the aorta,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14067,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14066,99049,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99049,en,Pulmonary artery coming from patent ductus arteriosus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14066,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14069,99052,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052,en,Discrete fibromuscular subaortic stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14069,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14068,99051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051,en,Discrete fixed membranous subaortic stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14068,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14071,99054,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054,en,Valvular pulmonary stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14071,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14070,99053,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053,en,Tunnel subaortic stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14070,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14073,99056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99056,en,Parachute tricuspid valve,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14073,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14072,99055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99055,en,Congenital anomaly of the tricuspid valve chordae,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14072,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14075,99058,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99058,en,Hypoplasia of the mitral valve annulus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14075,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14074,99057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99057,en,Congenital mitral stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14074,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14077,99060,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99060,en,Congenital unguarded mitral orifice,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14077,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14076,99059,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99059,en,Congenital supravalvular mitral ring,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14076,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14079,99062,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99062,en,Mitral valve agenesis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14079,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14078,99061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99061,en,Accessory mitral valve tissue,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14078,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13623,98606,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98606,en,Syndromic orbital border hypoplasia,en,1,12984,97966,Rare ophthalmic disorder,en,13623,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13693,98676,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98676,en,Autosomal recessive isolated optic atrophy,en,1,12984,97966,Rare ophthalmic disorder,en,13693,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13690,98673,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673,en,"Autosomal dominant optic atrophy, classic form",en,1,12984,97966,Rare ophthalmic disorder,en,13690,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13636,98619,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98619,en,Rare isolated myopia,en,1,12984,97966,Rare ophthalmic disorder,en,13636,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29042,583602,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602,en,Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,29042,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29043,583607,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607,en,Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,29043,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29040,583595,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583595,en,"Serine biosynthesis pathway deficiency, infantile/juvenile form",en,1,10507,68367,Rare inborn errors of metabolism,en,29040,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29044,583612,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612,en,Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,29044,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29050,583856,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583856,en,Isolated splenic vein thrombosis,en,1,12954,97935,Rare gastroenterologic disease,en,29050,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29051,583861,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583861,en,Isolated mesenteric vein thrombosis,en,1,12954,97935,Rare gastroenterologic disease,en,29051,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13703,98686,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98686,en,Congenital trochlear nerve palsy,en,1,12984,97966,Rare ophthalmic disorder,en,13703,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,29004,583097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583097,en,Congenital infiltrating lipomatosis of the face,en,1,12469,93890,Rare developmental defect during embryogenesis,en,29004,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13815,98798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98798,en,Isochromosomy Yq,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13815,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13814,98797,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98797,en,Isochromosomy Yp,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13814,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13812,98795,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795,en,Angelman syndrome due to paternal uniparental disomy of chromosome 15,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13812,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13811,98794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794,en,Angelman syndrome due to maternal 15q11q13 deletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13811,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13810,98793,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793,en,Prader-Willi syndrome due to paternal 15q11q13 deletion,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13810,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13808,98791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791,en,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13808,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13823,98806,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98806,en,"Primary dystonia, DYT6 type",en,1,13024,98006,Rare neurologic disease,en,13823,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13822,98805,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98805,en,"Primary dystonia, DYT4 type",en,1,13024,98006,Rare neurologic disease,en,13822,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13801,98784,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784,en,Autosomal dominant nocturnal frontal lobe epilepsy,en,1,13024,98006,Rare neurologic disease,en,13801,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13781,98764,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764,en,Spinocerebellar ataxia type 27,en,1,13024,98006,Rare neurologic disease,en,13781,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13780,98763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763,en,Spinocerebellar ataxia type 14,en,1,13024,98006,Rare neurologic disease,en,13780,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13783,98766,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766,en,Spinocerebellar ataxia type 5,en,1,13024,98006,Rare neurologic disease,en,13783,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13782,98765,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765,en,Spinocerebellar ataxia type 4,en,1,13024,98006,Rare neurologic disease,en,13782,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13777,98760,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760,en,Spinocerebellar ataxia type 8,en,1,13024,98006,Rare neurologic disease,en,13777,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13776,98759,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759,en,Spinocerebellar ataxia type 17,en,1,13024,98006,Rare neurologic disease,en,13776,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13779,98762,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762,en,Spinocerebellar ataxia type 12,en,1,13024,98006,Rare neurologic disease,en,13779,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13778,98761,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761,en,Spinocerebellar ataxia type 10,en,1,13024,98006,Rare neurologic disease,en,13778,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13789,98772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772,en,Spinocerebellar ataxia type 19/22,en,1,13024,98006,Rare neurologic disease,en,13789,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13788,98771,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771,en,Spinocerebellar ataxia type 18,en,1,13024,98006,Rare neurologic disease,en,13788,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13790,98773,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773,en,Spinocerebellar ataxia type 21,en,1,13024,98006,Rare neurologic disease,en,13790,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13785,98768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768,en,Spinocerebellar ataxia type 13,en,1,13024,98006,Rare neurologic disease,en,13785,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13784,98767,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767,en,Spinocerebellar ataxia type 11,en,1,13024,98006,Rare neurologic disease,en,13784,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13786,98769,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769,en,Spinocerebellar ataxia type 15/16,en,1,13024,98006,Rare neurologic disease,en,13786,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28932,580940,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940,en,QRICH1-related intellectual disability-chondrodysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28932,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28934,580951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580951,en,Punctate inner choroidopathy,en,1,12984,97966,Rare ophthalmic disorder,en,28934,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28931,580933,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933,en,Lethal brain and heart developmental defects,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28931,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13772,98755,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755,en,Spinocerebellar ataxia type 1,en,1,13024,98006,Rare neurologic disease,en,13772,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13773,98756,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756,en,Spinocerebellar ataxia type 2,en,1,13024,98006,Rare neurologic disease,en,13773,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13774,98757,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757,en,Spinocerebellar ataxia type 3,en,1,13024,98006,Rare neurologic disease,en,13774,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13775,98758,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758,en,Spinocerebellar ataxia type 6,en,1,13024,98006,Rare neurologic disease,en,13775,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28936,581271,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581271,en,Cramp-fasciculation syndrome,en,1,13024,98006,Rare neurologic disease,en,28936,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13771,98754,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754,en,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,en,1,12469,93890,Rare developmental defect during embryogenesis,en,13771,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28919,580572,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580572,en,Intraductal tubulopapillary neoplasm of pancreas,en,1,19592,250908,Rare neoplastic disease,en,28919,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28845,576232,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576232,en,Partial atrioventricular septal defect with ventricular hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28845,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28846,576235,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576235,en,Partial atrioventricular septal defect without ventricular hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28846,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28843,576227,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576227,en,Complete atrioventricular septal defect without ventricular hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28843,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28838,576074,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576074,en,Middle East respiratory syndrome,en,1,12974,97955,Rare respiratory disease,en,28838,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28832,575553,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575553,en,Cathepsin A-related arteriopathy-strokes-leukoencephalopathy,en,1,13024,98006,Rare neurologic disease,en,28832,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28856,576379,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576379,en,Iatrogenic Creutzfeldt-Jakob disease,en,1,13024,98006,Rare neurologic disease,en,28856,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28852,576349,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576349,en,NLRC4-related familial cold autoinflammatory syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,28852,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28855,576370,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576370,en,Variant Creutzfeldt-Jakob disease,en,1,13024,98006,Rare neurologic disease,en,28855,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28849,576242,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576242,en,Intermediate atrioventricular septal defect,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28849,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28851,576283,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283,en,SATB2-associated syndrome due to a pathogenic variant,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28851,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28850,576278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278,en,SATB2-associated syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28850,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28815,573253,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253,en,Split cord malformation type II,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28815,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28824,574957,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574957,en,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency,en,1,13022,98004,Rare immune disease,en,28824,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28823,574918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574918,en,Predisposition to severe viral infection due to IRF7 deficiency,en,1,13022,98004,Rare immune disease,en,28823,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28738,572385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572385,en,Brachydactyly type B1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28738,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28736,572361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361,en,Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28736,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28746,572428,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572428,en,Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,en,1,12974,97955,Rare respiratory disease,en,28746,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,13451,98434,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434,en,Hereditary combined deficiency of vitamin K-dependent clotting factors,en,1,13010,97992,Rare hematologic disease,en,13451,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28754,572543,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543,en,RFVT2-related riboflavin transporter deficiency,en,1,13024,98006,Rare neurologic disease,en,28754,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28755,572550,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572550,en,RFVT3-related riboflavin transporter deficiency,en,1,13024,98006,Rare neurologic disease,en,28755,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28766,572773,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773,en,Microcephaly-short stature-limb abnormalities syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28766,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28767,572798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798,en,WARS2-related combined oxidative phosphorylation defect,en,1,10507,68367,Rare inborn errors of metabolism,en,28767,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28764,572761,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761,en,DONSON-related microcephaly-short stature-limb abnormalities spectrum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28764,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28765,572768,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768,en,Microcephaly-micromelia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28765,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28726,572013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013,en,Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28726,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28732,572333,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333,en,Blepharophimosis-ptosis-epicanthus inversus syndrome plus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28732,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28735,572354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354,en,Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,28735,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28678,570762,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570762,en,Infective endocarditis,en,1,10557,68416,Rare infectious disease,en,28678,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28677,570491,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491,en,QRSL1-related combined oxidative phosphorylation defect,en,1,10507,68367,Rare inborn errors of metabolism,en,28677,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28676,570470,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570470,en,Ricin poisoning,en,1,13010,97992,Rare hematologic disease,en,28676,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28675,570438,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570438,en,HHV-8-associated multicentric Castleman disease,en,1,13010,97992,Rare hematologic disease,en,28675,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28674,570431,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570431,en,Idiopathic multicentric Castleman disease,en,1,13010,97992,Rare hematologic disease,en,28674,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28673,570422,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422,en,Galactose mutarotase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,28673,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,28672,570371,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570371,en,Bartter syndrome type 5,en,1,12456,93626,Rare renal disease,en,28672,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,15007,104077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104077,en,Myopathic intestinal pseudoobstruction,en,1,12954,97935,Rare gastroenterologic disease,en,15007,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,15006,104076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104076,en,Leiomyosarcoma of small intestine,en,1,19592,250908,Rare neoplastic disease,en,15006,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,15005,104075,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104075,en,Adenocarcinoma of the small intestine,en,1,19592,250908,Rare neoplastic disease,en,15005,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14993,103920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103920,en,Undetermined colitis,en,1,12954,97935,Rare gastroenterologic disease,en,14993,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14991,103918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103918,en,Tropical pancreatitis,en,1,12954,97935,Rare gastroenterologic disease,en,14991,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14986,103910,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103910,en,Congenital enterocyte heparan sulfate deficiency,en,1,12954,97935,Rare gastroenterologic disease,en,14986,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14984,103908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908,en,Congenital sodium diarrhea,en,1,12954,97935,Rare gastroenterologic disease,en,14984,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14985,103909,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909,en,Trehalase deficiency,en,1,12954,97935,Rare gastroenterologic disease,en,14985,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14983,103907,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907,en,Chronic diarrhea due to glucoamylase deficiency,en,1,12954,97935,Rare gastroenterologic disease,en,14983,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14981,102724,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102724,en,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,en,1,19592,250908,Rare neoplastic disease,en,14981,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14978,102379,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102379,en,Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent,en,1,19592,250908,Rare neoplastic disease,en,14978,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14979,102381,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102381,en,Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor,en,1,19592,250908,Rare neoplastic disease,en,14979,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,15008,104078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104078,en,Unclassified intestinal pseudoobstruction,en,1,12954,97935,Rare gastroenterologic disease,en,15008,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14868,101932,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101932,en,Anomaly of the mitral subvalvular apparatus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14868,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14865,101685,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101685,en,Rare non-syndromic intellectual disability,en,1,13024,98006,Rare neurologic disease,en,14865,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14855,101351,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351,en,Familial isolated congenital asplenia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14855,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14826,101150,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150,en,Autosomal recessive dopa-responsive dystonia,en,1,13024,98006,Rare neurologic disease,en,14826,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14822,101111,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111,en,Spinocerebellar ataxia type 25,en,1,13024,98006,Rare neurologic disease,en,14822,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14823,101112,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112,en,Spinocerebellar ataxia type 26,en,1,13024,98006,Rare neurologic disease,en,14823,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14820,101109,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109,en,Spinocerebellar ataxia type 28,en,1,13024,98006,Rare neurologic disease,en,14820,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14821,101110,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110,en,Spinocerebellar ataxia type 20,en,1,13024,98006,Rare neurologic disease,en,14821,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14819,101108,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108,en,Spinocerebellar ataxia type 23,en,1,13024,98006,Rare neurologic disease,en,14819,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14845,101334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101334,en,African tick typhus,en,1,10557,68416,Rare infectious disease,en,14845,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14841,101330,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330,en,Porphyria cutanea tarda,en,1,10507,68367,Rare inborn errors of metabolism,en,14841,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14834,101206,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206,en,Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14834,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14796,101085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101085,en,Charcot-Marie-Tooth disease type 1F,en,1,13024,98006,Rare neurologic disease,en,14796,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14799,101088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088,en,X-linked hyper-IgM syndrome,en,1,13022,98004,Rare immune disease,en,14799,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14792,101081,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101081,en,Charcot-Marie-Tooth disease type 1A,en,1,13024,98006,Rare neurologic disease,en,14792,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14793,101082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101082,en,Charcot-Marie-Tooth disease type 1B,en,1,13024,98006,Rare neurologic disease,en,14793,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14794,101083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101083,en,Charcot-Marie-Tooth disease type 1C,en,1,13024,98006,Rare neurologic disease,en,14794,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14795,101084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101084,en,Charcot-Marie-Tooth disease type 1D,en,1,13024,98006,Rare neurologic disease,en,14795,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14788,101077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077,en,X-linked Charcot-Marie-Tooth disease type 3,en,1,13024,98006,Rare neurologic disease,en,14788,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14789,101078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078,en,X-linked Charcot-Marie-Tooth disease type 4,en,1,13024,98006,Rare neurologic disease,en,14789,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14786,101075,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075,en,X-linked Charcot-Marie-Tooth disease type 1,en,1,13024,98006,Rare neurologic disease,en,14786,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14787,101076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076,en,X-linked Charcot-Marie-Tooth disease type 2,en,1,13024,98006,Rare neurologic disease,en,14787,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14813,101102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101102,en,Charcot-Marie-Tooth disease type 2H,en,1,13024,98006,Rare neurologic disease,en,14813,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14812,101101,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101101,en,Charcot-Marie-Tooth disease type 2B2,en,1,13024,98006,Rare neurologic disease,en,14812,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14815,101104,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101104,en,Marin-Amat syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,14815,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14808,101097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101097,en,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,en,1,13024,98006,Rare neurologic disease,en,14808,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14807,101096,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101096,en,Aregenerative anemia,en,1,19592,250908,Rare neoplastic disease,en,14807,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14801,101090,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090,en,Hyper-IgM syndrome type 3,en,1,13022,98004,Rare immune disease,en,14801,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14800,101089,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101089,en,Hyper-IgM syndrome type 2,en,1,13022,98004,Rare immune disease,en,14800,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14803,101092,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101092,en,Hyper-IgM syndrome type 5,en,1,13022,98004,Rare immune disease,en,14803,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14802,101091,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101091,en,Hyper-IgM syndrome type 4,en,1,13022,98004,Rare immune disease,en,14802,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14760,101049,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049,en,Familial hypocalciuric hypercalcemia type 2,en,1,12996,97978,Rare endocrine disease,en,14760,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14761,101050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050,en,Familial hypocalciuric hypercalcemia type 3,en,1,12996,97978,Rare endocrine disease,en,14761,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14754,101043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043,en,Congenital aortic valve dysplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14754,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14752,101041,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101041,en,Familial hypofibrinogenemia,en,1,13010,97992,Rare hematologic disease,en,14752,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14757,101046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046,en,Autosomal dominant epilepsy with auditory features,en,1,13024,98006,Rare neurologic disease,en,14757,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14779,101068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101068,en,Congenital stromal corneal dystrophy,en,1,12984,97966,Rare ophthalmic disorder,en,14779,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14782,101071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071,en,Unilateral hemispheric polymicrogyria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14782,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14781,101070,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070,en,Bilateral frontoparietal polymicrogyria,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14781,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14774,101063,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063,en,Situs inversus totalis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14774,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14734,101023,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101023,en,Cleft hard palate,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14734,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14720,101009,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101009,en,Autosomal dominant spastic paraplegia type 29,en,1,13024,98006,Rare neurologic disease,en,14720,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14721,101010,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101010,en,Autosomal spastic paraplegia type 30,en,1,13024,98006,Rare neurologic disease,en,14721,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14722,101011,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101011,en,Autosomal dominant spastic paraplegia type 31,en,1,13024,98006,Rare neurologic disease,en,14722,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14727,101016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101016,en,Romano-Ward syndrome,en,1,12948,97929,Rare cardiac disease,en,14727,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14750,101039,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101039,en,Female restricted epilepsy with intellectual disability,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14750,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14739,101028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101028,en,Transaldolase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,14739,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14741,101030,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030,en,Subependymal nodular heterotopia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14741,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14740,101029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029,en,Sub-cortical nodular heterotopia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14740,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14695,100984,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100984,en,Autosomal dominant spastic paraplegia type 3,en,1,13024,98006,Rare neurologic disease,en,14695,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14689,100978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100978,en,Cloverleaf skull-asphyxiating thoracic dysplasia syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14689,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14702,100991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100991,en,Autosomal dominant spastic paraplegia type 10,en,1,13024,98006,Rare neurologic disease,en,14702,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14700,100989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100989,en,Autosomal dominant spastic paraplegia type 8,en,1,13024,98006,Rare neurologic disease,en,14700,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14699,100988,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100988,en,Autosomal dominant spastic paraplegia type 6,en,1,13024,98006,Rare neurologic disease,en,14699,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14697,100986,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100986,en,Autosomal recessive spastic paraplegia type 5A,en,1,13024,98006,Rare neurologic disease,en,14697,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14696,100985,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100985,en,Autosomal dominant spastic paraplegia type 4,en,1,13024,98006,Rare neurologic disease,en,14696,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14710,100999,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100999,en,Autosomal dominant spastic paraplegia type 19,en,1,13024,98006,Rare neurologic disease,en,14710,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14711,101000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101000,en,Autosomal recessive spastic paraplegia type 20,en,1,13024,98006,Rare neurologic disease,en,14711,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14708,100997,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100997,en,X-linked spastic paraplegia type 16,en,1,13024,98006,Rare neurologic disease,en,14708,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14709,100998,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998,en,Autosomal dominant spastic paraplegia type 17,en,1,13024,98006,Rare neurologic disease,en,14709,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14706,100995,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100995,en,Autosomal recessive spastic paraplegia type 14,en,1,13024,98006,Rare neurologic disease,en,14706,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14707,100996,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996,en,Autosomal recessive spastic paraplegia type 15,en,1,13024,98006,Rare neurologic disease,en,14707,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14704,100993,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100993,en,Autosomal dominant spastic paraplegia type 12,en,1,13024,98006,Rare neurologic disease,en,14704,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14705,100994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100994,en,Autosomal dominant spastic paraplegia type 13,en,1,13024,98006,Rare neurologic disease,en,14705,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14718,101007,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101007,en,Autosomal recessive spastic paraplegia type 27,en,1,13024,98006,Rare neurologic disease,en,14718,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14719,101008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101008,en,Autosomal recessive spastic paraplegia type 28,en,1,13024,98006,Rare neurologic disease,en,14719,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14716,101005,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101005,en,Autosomal recessive spastic paraplegia type 25,en,1,13024,98006,Rare neurologic disease,en,14716,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14717,101006,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006,en,Autosomal recessive spastic paraplegia type 26,en,1,13024,98006,Rare neurologic disease,en,14717,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14714,101003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101003,en,Autosomal recessive spastic paraplegia type 23,en,1,13024,98006,Rare neurologic disease,en,14714,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14715,101004,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101004,en,Autosomal recessive spastic paraplegia type 24,en,1,13024,98006,Rare neurologic disease,en,14715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14712,101001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101001,en,Autosomal recessive spastic paraplegia type 21,en,1,13024,98006,Rare neurologic disease,en,14712,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14657,100085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100085,en,Primary hepatic neuroendocrine carcinoma,en,1,19592,250908,Rare neoplastic disease,en,14657,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14656,100084,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100084,en,Middle ear neuroendocrine tumor,en,1,19592,250908,Rare neoplastic disease,en,14656,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14658,100086,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100086,en,Gallbladder neuroendocrine tumor,en,1,19592,250908,Rare neoplastic disease,en,14658,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14665,100093,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100093,en,Carcinoid syndrome,en,1,19592,250908,Rare neoplastic disease,en,14665,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14678,100924,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924,en,Porphyria due to ALA dehydratase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,14678,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14684,100973,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100973,en,FRAXE intellectual disability,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14684,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14685,100974,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100974,en,FRAXF syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14685,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14687,100976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976,en,Bathing suit ichthyosis,en,1,11896,89826,Rare skin disease,en,14687,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14627,100054,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100054,en,F12-related hereditary angioedema with normal C1Inh,en,1,13041,98023,Rare systemic or rheumatologic disease,en,14627,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14624,100051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100051,en,Hereditary angioedema type 2,en,1,13041,98023,Rare systemic or rheumatologic disease,en,14624,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14630,100057,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100057,en,Renin-angiotensin-aldosterone system-blocker-induced angioedema,en,1,13041,98023,Rare systemic or rheumatologic disease,en,14630,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14629,100056,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100056,en,Acquired angioedema type 1,en,1,13041,98023,Rare systemic or rheumatologic disease,en,14629,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14628,100055,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100055,en,Acquired angioedema type 2,en,1,13041,98023,Rare systemic or rheumatologic disease,en,14628,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14642,100069,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069,en,Semantic dementia,en,1,13024,98006,Rare neurologic disease,en,14642,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14643,100070,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070,en,Progressive non-fluent aphasia,en,1,13024,98006,Rare neurologic disease,en,14643,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14640,100067,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100067,en,Waterhouse-Friderichsen syndrome,en,1,12996,97978,Rare endocrine disease,en,14640,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14646,100073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100073,en,Neurogenic thoracic outlet syndrome,en,1,12980,97962,Rare surgical thoracic disease,en,14646,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14647,100075,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100075,en,Neuroendocrine tumor of stomach,en,1,19592,250908,Rare neoplastic disease,en,14647,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14644,100071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100071,en,Mosaic trisomy 3,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14644,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14650,100078,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100078,en,Ileal neuroendocrine tumor,en,1,19592,250908,Rare neoplastic disease,en,14650,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14651,100079,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100079,en,Neuroendocrine neoplasm of appendix,en,1,19592,250908,Rare neoplastic disease,en,14651,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14654,100082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100082,en,Neuroendocrine tumor of anal canal,en,1,19592,250908,Rare neoplastic disease,en,14654,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14655,100083,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100083,en,Laryngeal neuroendocrine tumor,en,1,19592,250908,Rare neoplastic disease,en,14655,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14652,100080,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100080,en,Neuroendocrine tumor of the colon,en,1,19592,250908,Rare neoplastic disease,en,14652,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14653,100081,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100081,en,Neuroendocrine tumor of the rectum,en,1,19592,250908,Rare neoplastic disease,en,14653,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14593,100020,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100020,en,Refractory anemia with excess blasts type 2,en,1,19592,250908,Rare neoplastic disease,en,14593,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14592,100019,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100019,en,Refractory anemia with excess blasts type 1,en,1,19592,250908,Rare neoplastic disease,en,14592,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14595,100022,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100022,en,Extramedullary soft tissue plasmacytoma,en,1,19592,250908,Rare neoplastic disease,en,14595,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14594,100021,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100021,en,Primary plasmacytoma of the bone,en,1,19592,250908,Rare neoplastic disease,en,14594,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14597,100024,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100024,en,Mu-heavy chain disease,en,1,19592,250908,Rare neoplastic disease,en,14597,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14599,100026,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100026,en,Gamma-heavy chain disease,en,1,19592,250908,Rare neoplastic disease,en,14599,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14598,100025,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100025,en,Alpha-heavy chain disease,en,1,19592,250908,Rare neoplastic disease,en,14598,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14605,100032,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100032,en,Hypocalcified amelogenesis imperfecta,en,1,13044,98026,Rare odontologic disease,en,14605,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14604,100031,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100031,en,Hypoplastic amelogenesis imperfecta,en,1,13044,98026,Rare odontologic disease,en,14604,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14607,100034,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100034,en,Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,en,1,13044,98026,Rare odontologic disease,en,14607,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14606,100033,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100033,en,Hypomaturation amelogenesis imperfecta,en,1,13044,98026,Rare odontologic disease,en,14606,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14608,100035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100035,en,Solitary necrotic nodule of the liver,en,1,10772,57146,Rare hepatic disease,en,14608,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14616,100043,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100043,en,Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,en,1,13024,98006,Rare neurologic disease,en,14616,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14617,100044,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100044,en,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,en,1,13024,98006,Rare neurologic disease,en,14617,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14618,100045,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100045,en,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,en,1,13024,98006,Rare neurologic disease,en,14618,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14619,100046,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100046,en,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,en,1,13024,98006,Rare neurologic disease,en,14619,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14620,100047,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100047,en,Esophageal duplication cyst,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14620,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14621,100048,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100048,en,Tubular duplication of the esophagus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14621,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14623,100050,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100050,en,Hereditary angioedema type 1,en,1,13041,98023,Rare systemic or rheumatologic disease,en,14623,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14589,100016,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016,en,Lissencephaly with cerebellar hypoplasia type F,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14589,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14588,100015,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015,en,Lissencephaly with cerebellar hypoplasia type E,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14588,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31806,647667,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667,en,Mandibuloacral dysplasia associated to MTX2,en,1,12333,93419,Rare bone disease,en,31806,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31807,647676,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647676,en,Multiple epiphyseal dysplasia type 7,en,1,12333,93419,Rare bone disease,en,31807,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31800,646113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646113,en,Intermediate collagen VI-related muscular dystrophy,en,1,13024,98006,Rare neurologic disease,en,31800,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14585,100012,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012,en,Lissencephaly with cerebellar hypoplasia type B,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14585,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31801,646136,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646136,en,"Dysplastic cortical hyperostosis, Al-Gazali type",en,1,12333,93419,Rare bone disease,en,31801,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14584,100011,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011,en,Lissencephaly with cerebellar hypoplasia type A,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14584,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31802,646139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646139,en,Dysplastic cortical hyperostosis,en,1,12333,93419,Rare bone disease,en,31802,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14587,100014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014,en,Lissencephaly with cerebellar hypoplasia type D,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14587,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31803,646278,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646278,en,CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31803,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14586,100013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013,en,Lissencephaly with cerebellar hypoplasia type C,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14586,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31796,645854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645854,en,Multifocal tuberculosis,en,1,10557,68416,Rare infectious disease,en,31796,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14581,100008,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008,en,ACys amyloidosis,en,1,13024,98006,Rare neurologic disease,en,14581,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31797,645859,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645859,en,Primary tuberculosis of the digestive system,en,1,10557,68416,Rare infectious disease,en,31797,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31798,645874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645874,en,Primary genito-urinary tuberculosis,en,1,10557,68416,Rare infectious disease,en,31798,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31792,645807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645807,en,Primary tuberculous lymphadenitis,en,1,10557,68416,Rare infectious disease,en,31792,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31793,645814,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645814,en,Primary pulmonary tuberculosis,en,1,10557,68416,Rare infectious disease,en,31793,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14576,100003,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100003,en,Intraneural perineurioma,en,1,13024,98006,Rare neurologic disease,en,14576,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31794,645822,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645822,en,Primary bone and joint tuberculosis,en,1,10557,68416,Rare infectious disease,en,31794,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14579,100006,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006,en,"ABeta amyloidosis, Dutch type",en,1,13024,98006,Rare neurologic disease,en,14579,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31795,645849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645849,en,Primary cutaneous tuberculosis,en,1,10557,68416,Rare infectious disease,en,31795,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31788,645749,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645749,en,Congenital esophageal stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31788,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14573,100000,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100000,en,Reticular perineurioma,en,1,13024,98006,Rare neurologic disease,en,14573,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31791,645793,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645793,en,Spontaneous intestinal perforation,en,1,12954,97935,Rare gastroenterologic disease,en,31791,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14574,100001,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100001,en,Sclerosing perineurioma,en,1,13024,98006,Rare neurologic disease,en,14574,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14575,100002,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100002,en,Extraneural perineurioma,en,1,13024,98006,Rare neurologic disease,en,14575,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31785,645617,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645617,en,Amyopathic dermatomyositis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,31785,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14568,99995,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99995,en,Complex regional pain syndrome type 1,en,1,13024,98006,Rare neurologic disease,en,14568,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31784,645613,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645613,en,Classical dermatomyositis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,31784,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31786,645626,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645626,en,Adermatopathic dermatomyositis,en,1,13041,98023,Rare systemic or rheumatologic disease,en,31786,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31781,645393,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645393,en,Hemi-myeloschisis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31781,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14564,99991,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99991,en,Relapsing epidemic typhus,en,1,10557,68416,Rare infectious disease,en,14564,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31780,645388,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645388,en,Hemi-myelomeningocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31780,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31783,645401,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645401,en,True myeloschisis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31783,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31782,645398,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645398,en,Myeloschisis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31782,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14567,99994,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99994,en,Complex regional pain syndrome type 2,en,1,13024,98006,Rare neurologic disease,en,14567,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31776,645362,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645362,en,Dorsal spinal cord lipoma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31776,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31779,645383,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645383,en,True myelomeningocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31779,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14562,99989,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99989,en,Intermediate DEND syndrome,en,1,12996,97978,Rare endocrine disease,en,14562,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31778,645378,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378,en,Myelic limited dorsal malformation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31778,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14563,99990,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99990,en,Brill-Zinsser disease,en,1,10557,68416,Rare infectious disease,en,14563,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31774,645354,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645354,en,Saccular limited dorsal myeloschisis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31774,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31775,645359,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645359,en,Intramedullary non-dysraphic spinal cord lipoma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31775,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31772,645343,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645343,en,Non-saccular limited dorsal myeloschisis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31772,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31773,645350,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645350,en,Segmental arterial mediolysis,en,1,13046,98028,Rare circulatory system disease,en,31773,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31770,645337,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337,en,Terminal myelocystocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31770,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31771,645340,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645340,en,Non-terminal myelocystocele,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31771,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14554,99981,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99981,en,Apnea of prematurity,en,1,12974,97955,Rare respiratory disease,en,14554,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31768,645325,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645325,en,Isolated filum lipoma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31768,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31769,645334,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645334,en,Retained medullary cord,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31769,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14551,99978,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99978,en,Klatskin tumor,en,1,19592,250908,Rare neoplastic disease,en,14551,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31767,645322,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645322,en,Isolated transitional filum lipoma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31767,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14550,99977,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99977,en,Squamous cell carcinoma of the esophagus,en,1,19592,250908,Rare neoplastic disease,en,14550,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31764,645300,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645300,en,Lipomatous non-saccular limited dorsal myeloschisis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31764,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14549,99976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99976,en,Adenocarcinoma of the esophagus,en,1,19592,250908,Rare neoplastic disease,en,14549,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31765,645310,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645310,en,Fibroneural non-saccular limited dorsal myeloschisis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31765,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31762,645294,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645294,en,Posterior extramedullary conus spinal cord lipoma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31762,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31763,645297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645297,en,Extramedullary conus spinal cord lipoma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31763,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31760,645288,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645288,en,Terminal extramedullary conus spinal cord lipoma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31760,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31761,645291,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645291,en,Transitional extramedullary conus spinal cord lipoma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31761,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14544,99971,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99971,en,Well-differentiated liposarcoma,en,1,19592,250908,Rare neoplastic disease,en,14544,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31759,645285,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645285,en,Chaotic conus spinal cord lipoma,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31759,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14542,99969,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99969,en,Pleomorphic liposarcoma,en,1,19592,250908,Rare neoplastic disease,en,14542,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14543,99970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99970,en,Dedifferentiated liposarcoma,en,1,19592,250908,Rare neoplastic disease,en,14543,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14540,99967,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99967,en,Myxoid/round cell liposarcoma,en,1,19592,250908,Rare neoplastic disease,en,14540,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14538,99965,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99965,en,O'Sullivan-McLeod syndrome,en,1,13024,98006,Rare neurologic disease,en,14538,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14539,99966,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99966,en,Atypical teratoid rhabdoid tumor,en,1,19592,250908,Rare neoplastic disease,en,14539,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14534,99961,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961,en,Benign recurrent intrahepatic cholestasis type 2,en,1,10772,57146,Rare hepatic disease,en,14534,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31749,645188,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645188,en,Spinal dermal sinus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31749,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14533,99960,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960,en,Benign recurrent intrahepatic cholestasis type 1,en,1,10772,57146,Rare hepatic disease,en,14533,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31747,643549,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643549,en,Hao-Fountain syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31747,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31746,643538,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643538,en,Hao-Fountain syndrome due to USP7 mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31746,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31745,643503,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643503,en,Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31745,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14528,99955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99955,en,Charcot-Marie-Tooth disease type 4B1,en,1,13024,98006,Rare neurologic disease,en,14528,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14529,99956,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99956,en,Charcot-Marie-Tooth disease type 4B2,en,1,13024,98006,Rare neurologic disease,en,14529,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14521,99948,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99948,en,Charcot-Marie-Tooth disease type 4A,en,1,13024,98006,Rare neurologic disease,en,14521,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14520,99947,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99947,en,Autosomal dominant Charcot-Marie-Tooth disease type 2A2,en,1,13024,98006,Rare neurologic disease,en,14520,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14523,99950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99950,en,Charcot-Marie-Tooth disease type 4D,en,1,13024,98006,Rare neurologic disease,en,14523,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14522,99949,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99949,en,Charcot-Marie-Tooth disease type 4C,en,1,13024,98006,Rare neurologic disease,en,14522,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14525,99952,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99952,en,Charcot-Marie-Tooth disease type 4F,en,1,13024,98006,Rare neurologic disease,en,14525,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14524,99951,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99951,en,Charcot-Marie-Tooth disease type 4E,en,1,13024,98006,Rare neurologic disease,en,14524,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14527,99954,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99954,en,Charcot-Marie-Tooth disease type 4H,en,1,13024,98006,Rare neurologic disease,en,14527,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14526,99953,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99953,en,Charcot-Marie-Tooth disease type 4G,en,1,13024,98006,Rare neurologic disease,en,14526,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31856,648992,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648992,en,Non-syndromic bridging bronchus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31856,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14513,99940,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99940,en,Autosomal dominant Charcot-Marie-Tooth disease type 2F,en,1,13024,98006,Rare neurologic disease,en,14513,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14512,99939,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99939,en,Autosomal dominant Charcot-Marie-Tooth disease type 2E,en,1,13024,98006,Rare neurologic disease,en,14512,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31858,649010,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649010,en,Non-syndromic congenital bronchial atresia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31858,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14515,99942,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99942,en,Autosomal dominant Charcot-Marie-Tooth disease type 2I,en,1,13024,98006,Rare neurologic disease,en,14515,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14514,99941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99941,en,Autosomal dominant Charcot-Marie-Tooth disease type 2G,en,1,13024,98006,Rare neurologic disease,en,14514,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14517,99944,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99944,en,Autosomal dominant Charcot-Marie-Tooth disease type 2K,en,1,13024,98006,Rare neurologic disease,en,14517,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31861,649029,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649029,en,Isolated left bronchial isomerism,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31861,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14516,99943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99943,en,Autosomal dominant Charcot-Marie-Tooth disease type 2J,en,1,13024,98006,Rare neurologic disease,en,14516,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14519,99946,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99946,en,Autosomal dominant Charcot-Marie-Tooth disease type 2A1,en,1,13024,98006,Rare neurologic disease,en,14519,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14518,99945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99945,en,Autosomal dominant Charcot-Marie-Tooth disease type 2L,en,1,13024,98006,Rare neurologic disease,en,14518,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14504,99931,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99931,en,Idiopathic pulmonary hemosiderosis,en,1,12974,97955,Rare respiratory disease,en,14504,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31848,648684,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648684,en,Central retinal artery occlusion,en,1,12984,97966,Rare ophthalmic disorder,en,31848,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14505,99932,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99932,en,Heiner syndrome,en,1,12974,97955,Rare respiratory disease,en,14505,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31851,648919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648919,en,Idiopathic catatonia,en,1,13024,98006,Rare neurologic disease,en,31851,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14506,99933,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99933,en,Pleuropulmonary blastoma type 1,en,1,19592,250908,Rare neoplastic disease,en,14506,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14507,99934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99934,en,Pleuropulmonary blastoma type 2,en,1,19592,250908,Rare neoplastic disease,en,14507,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14508,99935,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99935,en,Pleuropulmonary blastoma type 3,en,1,19592,250908,Rare neoplastic disease,en,14508,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14509,99936,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99936,en,Autosomal dominant Charcot-Marie-Tooth disease type 2B,en,1,13024,98006,Rare neurologic disease,en,14509,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14510,99937,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99937,en,Autosomal dominant Charcot-Marie-Tooth disease type 2C,en,1,13024,98006,Rare neurologic disease,en,14510,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14511,99938,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99938,en,Autosomal dominant Charcot-Marie-Tooth disease type 2D,en,1,13024,98006,Rare neurologic disease,en,14511,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31841,648562,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648562,en,Ferroportin Disease,en,1,10772,57146,Rare hepatic disease,en,31841,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31843,648581,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648581,en,Digenic hemochromatosis,en,1,10772,57146,Rare hepatic disease,en,31843,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14498,99925,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99925,en,Invasive mole,en,1,19592,250908,Rare neoplastic disease,en,14498,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14499,99926,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99926,en,Gestational choriocarcinoma,en,1,19592,250908,Rare neoplastic disease,en,14499,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31845,648665,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648665,en,Infectious scleritis,en,1,12984,97966,Rare ophthalmic disorder,en,31845,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14500,99927,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99927,en,Hydatidiform mole,en,1,19592,250908,Rare neoplastic disease,en,14500,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14501,99928,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99928,en,Placental site trophoblastic tumor,en,1,19592,250908,Rare neoplastic disease,en,14501,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31847,648681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648681,en,Immune-mediated scleritis,en,1,12984,97966,Rare ophthalmic disorder,en,31847,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31846,648675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648675,en,Idiopathic scleritis,en,1,12984,97966,Rare ophthalmic disorder,en,31846,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14503,99930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99930,en,Secondary pulmonary hemosiderosis,en,1,12974,97955,Rare respiratory disease,en,14503,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14491,99918,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99918,en,Streptococcal toxic-shock syndrome,en,1,10557,68416,Rare infectious disease,en,14491,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14490,99917,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99917,en,"Theca steroid-producing cell malignant tumor of ovary, not further specified",en,1,19592,250908,Rare neoplastic disease,en,14490,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14489,99916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99916,en,Malignant Sertoli-Leydig cell tumor of the ovary,en,1,19592,250908,Rare neoplastic disease,en,14489,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14488,99915,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99915,en,Maligant granulosa cell tumor of the ovary,en,1,19592,250908,Rare neoplastic disease,en,14488,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14495,99922,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99922,en,Ocular cicatricial pemphigoid,en,1,12984,97966,Rare ophthalmic disorder,en,14495,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14494,99921,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99921,en,Chronic graft versus host disease,en,1,13022,98004,Rare immune disease,en,14494,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14493,99920,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99920,en,Acute graft versus host disease,en,1,13022,98004,Rare immune disease,en,14493,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14492,99919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99919,en,Staphylococcal toxic-shock syndrome,en,1,10557,68416,Rare infectious disease,en,14492,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14481,99908,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99908,en,Pigeon-breeder lung disease,en,1,12974,97955,Rare respiratory disease,en,14481,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14480,99907,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99907,en,House allergic alveolitis,en,1,12974,97955,Rare respiratory disease,en,14480,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14487,99914,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99914,en,Gynandroblastoma,en,1,19592,250908,Rare neoplastic disease,en,14487,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14485,99912,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99912,en,Malignant dysgerminomatous germ cell tumor of the ovary,en,1,19592,250908,Rare neoplastic disease,en,14485,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31819,647815,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647815,en,Keratoendotheliitis fugax hereditaria,en,1,12984,97966,Rare ophthalmic disorder,en,31819,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14474,99901,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901,en,Acyl-CoA dehydrogenase 9 deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,14474,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31818,647811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647811,en,Cardiac-urogenital syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31818,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31816,647804,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647804,en,Combined immunodeficiency due to FCHO1 deficiency,en,1,13022,98004,Rare immune disease,en,31816,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31823,647916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647916,en,Conjoined twins,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31823,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14478,99905,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99905,en,Streptobacillary rat-bite fever,en,1,10557,68416,Rare infectious disease,en,14478,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14479,99906,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99906,en,Farmer's lung disease,en,1,12974,97955,Rare respiratory disease,en,14479,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31821,647834,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647834,en,SLC40A1-related hemochromatosis,en,1,10772,57146,Rare hepatic disease,en,31821,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14476,99903,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99903,en,Spirillary rat-bite fever,en,1,10557,68416,Rare infectious disease,en,14476,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31820,647823,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647823,en,Idiopathic pregnancy-associated osteoporosis,en,1,12845,96344,Rare gynecologic or obstetric disease,en,31820,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31811,647772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647772,en,Isolated primary pigmented nodular adrenocortical disease,en,1,12996,97978,Rare endocrine disease,en,31811,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31808,647681,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647681,en,Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31808,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31815,647799,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647799,en,MYT1L-related developmental delay-intellectual disability-obesity syndrome,en,1,13024,98006,Rare neurologic disease,en,31815,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31814,647794,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647794,en,Isolated persistent urogenital sinus,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31814,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14471,99898,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99898,en,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,en,1,13022,98004,Rare immune disease,en,14471,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31813,647788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647788,en,Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome,en,1,13024,98006,Rare neurologic disease,en,31813,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31812,647782,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647782,en,Isolated micronodular adrenocortical disease,en,1,12996,97978,Rare endocrine disease,en,31812,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14452,99879,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99879,en,Familial isolated hyperparathyroidism,en,1,12996,97978,Rare endocrine disease,en,14452,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14453,99880,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880,en,Hyperparathyroidism-jaw tumor syndrome,en,1,12996,97978,Rare endocrine disease,en,14453,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14460,99887,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99887,en,Acute megakaryoblastic leukemia in Down syndrome,en,1,19592,250908,Rare neoplastic disease,en,14460,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14462,99889,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889,en,Cushing syndrome due to ectopic ACTH secretion,en,1,12996,97978,Rare endocrine disease,en,14462,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14458,99885,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99885,en,Isolated permanent neonatal diabetes mellitus,en,1,12996,97978,Rare endocrine disease,en,14458,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14459,99886,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99886,en,Transient neonatal diabetes mellitus,en,1,12996,97978,Rare endocrine disease,en,14459,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14438,99865,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99865,en,Spermatocytic seminoma,en,1,19592,250908,Rare neoplastic disease,en,14438,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14433,99860,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99860,en,Precursor B-cell acute lymphoblastic leukemia,en,1,19592,250908,Rare neoplastic disease,en,14433,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14434,99861,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99861,en,Precursor T-cell acute lymphoblastic leukemia,en,1,19592,250908,Rare neoplastic disease,en,14434,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14441,99868,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99868,en,Thymic carcinoma,en,1,19592,250908,Rare neoplastic disease,en,14441,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14440,99867,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99867,en,Thymoma,en,1,19592,250908,Rare neoplastic disease,en,14440,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14442,99869,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99869,en,Thymic neuroendocrine carcinoma,en,1,19592,250908,Rare neoplastic disease,en,14442,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14422,99849,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849,en,Glycogen storage disease due to muscle beta-enolase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,14422,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14418,99845,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845,en,Genetic recurrent myoglobinuria,en,1,10507,68367,Rare inborn errors of metabolism,en,14418,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14419,99846,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99846,en,Autosomal dominant myoglobinuria,en,1,13024,98006,Rare neurologic disease,en,14419,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14416,99843,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843,en,Leukocyte adhesion deficiency type II,en,1,13022,98004,Rare immune disease,en,14416,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31888,650102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650102,en,Non-genetic central precocious puberty in male,en,1,12996,97978,Rare endocrine disease,en,31888,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14417,99844,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844,en,Leukocyte adhesion deficiency type III,en,1,13022,98004,Rare immune disease,en,14417,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14430,99857,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99857,en,Secondary syringomyelia,en,1,13024,98006,Rare neurologic disease,en,14430,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14431,99858,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99858,en,Idiopathic syringomyelia,en,1,13024,98006,Rare neurologic disease,en,14431,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14429,99856,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99856,en,Primary syringomyelia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14429,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14426,99853,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99853,en,Ovarioleukodystrophy,en,1,13024,98006,Rare neurologic disease,en,14426,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14427,99854,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99854,en,Cree leukoencephalopathy,en,1,13024,98006,Rare neurologic disease,en,14427,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14425,99852,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99852,en,Ravine syndrome,en,1,13024,98006,Rare neurologic disease,en,14425,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14405,99832,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99832,en,Resistance to thyrotropin-releasing hormone syndrome,en,1,12996,97978,Rare endocrine disease,en,14405,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14402,99829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99829,en,Yellow fever,en,1,10557,68416,Rare infectious disease,en,14402,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14401,99828,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99828,en,Dengue fever,en,1,10557,68416,Rare infectious disease,en,14401,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14400,99827,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99827,en,Crimean-Congo hemorrhagic fever,en,1,10557,68416,Rare infectious disease,en,14400,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31886,650092,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650092,en,Secondary central precocious puberty in male,en,1,12996,97978,Rare endocrine disease,en,31886,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14415,99842,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99842,en,Leukocyte adhesion deficiency type I,en,1,13022,98004,Rare immune disease,en,14415,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31887,650097,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650097,en,Genetic central precocious puberty in male,en,1,12996,97978,Rare endocrine disease,en,31887,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31884,650082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650082,en,Secondary central precocious puberty in female,en,1,12996,97978,Rare endocrine disease,en,31884,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31885,650087,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650087,en,Primary central precocious puberty in male,en,1,12996,97978,Rare endocrine disease,en,31885,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31883,650077,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650077,en,Genetic central precocious puberty in female,en,1,12996,97978,Rare endocrine disease,en,31883,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14384,99811,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99811,en,Neuronal intestinal pseudoobstruction,en,1,12954,97935,Rare gastroenterologic disease,en,14384,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14385,99812,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812,en,LIG4 syndrome,en,1,13022,98004,Rare immune disease,en,14385,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14391,99818,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99818,en,Turcot syndrome with polyposis,en,1,12954,97935,Rare gastroenterologic disease,en,14391,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14392,99819,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99819,en,Familial gestational hyperthyroidism,en,1,12996,97978,Rare endocrine disease,en,14392,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14397,99824,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99824,en,Lassa fever,en,1,10557,68416,Rare infectious disease,en,14397,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14398,99825,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99825,en,Nipah virus disease,en,1,10557,68416,Rare infectious disease,en,14398,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14399,99826,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99826,en,Marburg hemorrhagic fever,en,1,10557,68416,Rare infectious disease,en,14399,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14369,99796,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99796,en,Subcortical band heterotopia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14369,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14371,99798,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99798,en,Oligodontia,en,1,13044,98026,Rare odontologic disease,en,14371,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14370,99797,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99797,en,Anodontia,en,1,13044,98026,Rare odontologic disease,en,14370,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14375,99802,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802,en,Hemimegalencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14375,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14376,99803,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803,en,Haddad syndrome,en,1,13024,98006,Rare neurologic disease,en,14376,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14379,99806,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99806,en,Oculootodental syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14379,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14380,99807,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807,en,PEHO-like syndrome,en,1,13024,98006,Rare neurologic disease,en,14380,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14383,99810,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810,en,Familial porencephaly,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14383,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14362,99789,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99789,en,Dentin dysplasia type I,en,1,13044,98026,Rare odontologic disease,en,14362,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14364,99791,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99791,en,Dentin dysplasia type II,en,1,13044,98026,Rare odontologic disease,en,14364,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14365,99792,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99792,en,Dentin dysplasia-sclerotic bones syndrome,en,1,13044,98026,Rare odontologic disease,en,14365,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14345,99772,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772,en,Cleft velum,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14345,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14344,99771,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99771,en,Bifid uvula,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14344,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,14349,99776,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99776,en,Mosaic trisomy 9,en,1,12469,93890,Rare developmental defect during embryogenesis,en,14349,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31580,631073,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631073,en,Autosomal recessive spastic paraplegia type 82,en,1,13024,98006,Rare neurologic disease,en,31580,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31581,631076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631076,en,Autosomal recessive spastic paraplegia type 83,en,1,13024,98006,Rare neurologic disease,en,31581,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31582,631079,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631079,en,Autosomal recessive spastic paraplegia type 84,en,1,13024,98006,Rare neurologic disease,en,31582,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31583,631082,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631082,en,Autosomal recessive spastic paraplegia type 85,en,1,13024,98006,Rare neurologic disease,en,31583,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31579,631068,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631068,en,Autosomal dominant spastic paraplegia type 80,en,1,13024,98006,Rare neurologic disease,en,31579,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31591,631106,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631106,en,Spinocerebellar ataxia type 49,en,1,13024,98006,Rare neurologic disease,en,31591,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31590,631103,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631103,en,Spinocerebellar ataxia type 48,en,1,13024,98006,Rare neurologic disease,en,31590,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31588,631095,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631095,en,Spinocerebellar ataxia type 44,en,1,13024,98006,Rare neurologic disease,en,31588,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31585,631088,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631088,en,Autosomal recessive spastic paraplegia type 87,en,1,13024,98006,Rare neurologic disease,en,31585,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31584,631085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631085,en,Autosomal recessive spastic paraplegia type 86,en,1,13024,98006,Rare neurologic disease,en,31584,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31593,631251,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631251,en,Cancer of unknown primary site,en,1,19592,250908,Rare neoplastic disease,en,31593,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31592,631248,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631248,en,Mitchell Syndrome,en,1,13024,98006,Rare neurologic disease,en,31592,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31692,634475,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634475,en,Mosaic NF2-related schwannomatosis,en,1,13054,98036,Rare otorhinolaryngologic disease,en,31692,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31693,634492,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634492,en,Mosaic schwannomatosis,en,1,13024,98006,Rare neurologic disease,en,31693,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31694,634511,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634511,en,Mosaic Legius syndrome,en,1,11896,89826,Rare skin disease,en,31694,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31691,634461,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634461,en,Mosaic neurofibromatosis type 1,en,1,13024,98006,Rare neurologic disease,en,31691,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31680,633228,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633228,en,Proximal femoral focal deficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31680,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31705,637064,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637064,en,Isolated optic nerve aplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31705,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31704,637061,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637061,en,Isolated optic nerve hypoplasia,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31704,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31701,636970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636970,en,Autosomal recessive myosin storage myopathy,en,1,13024,98006,Rare neurologic disease,en,31701,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31700,636965,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636965,en,Autosomal dominant myosin storage myopathy,en,1,13024,98006,Rare neurologic disease,en,31700,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31703,637051,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637051,en,Borna virus encephalitis,en,1,10557,68416,Rare infectious disease,en,31703,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31702,637013,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013,en,SMARCA2-related blepharophimosis-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31702,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31697,636945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636945,en,Invasive Candidiasis,en,1,10557,68416,Rare infectious disease,en,31697,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31696,636941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636941,en,Vascular Ehlers-Danlos-polymicrogyria syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,31696,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31699,636955,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636955,en,Endemic pemphigus foliaceus,en,1,11896,89826,Rare skin disease,en,31699,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31698,636950,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636950,en,Glaucomatocyclitic crisis disease,en,1,12984,97966,Rare ophthalmic disorder,en,31698,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31727,641829,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641829,en,Neonatal compartment syndrome,en,1,13046,98028,Rare circulatory system disease,en,31727,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31725,641496,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641496,en,Childhood-onset schizophrenia,en,1,13024,98006,Rare neurologic disease,en,31725,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31722,641390,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641390,en,PsAPASH syndrome,en,1,11896,89826,Rare skin disease,en,31722,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31723,641396,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641396,en,Central nervous system tuberculosis,en,1,10557,68416,Rare infectious disease,en,31723,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31720,641380,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641380,en,PAPASH syndrome,en,1,11896,89826,Rare skin disease,en,31720,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31721,641385,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641385,en,PASS syndrome,en,1,11896,89826,Rare skin disease,en,31721,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31718,641375,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641375,en,B-lymphoblastic leukemia/lymphoma with t(17;19),en,1,19592,250908,Rare neoplastic disease,en,31718,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31716,641368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641368,en,Autosomal recessive hyper-IgE syndrome,en,1,13022,98004,Rare immune disease,en,31716,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31717,641372,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641372,en,B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2),en,1,19592,250908,Rare neoplastic disease,en,31717,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31714,641353,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641353,en,Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome,en,1,13024,98006,Rare neurologic disease,en,31714,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31715,641361,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641361,en,Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome,en,1,13024,98006,Rare neurologic disease,en,31715,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31713,641350,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641350,en,Immunotherapy induced hypophysitis,en,1,12996,97978,Rare endocrine disease,en,31713,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31742,642976,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976,en,Perrault syndrome type 2,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31742,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31741,642965,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965,en,Autosomal recessive ataxia due to PEX2 deficiency,en,1,13024,98006,Rare neurologic disease,en,31741,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31740,642954,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954,en,Autosomal recessive ataxia due to PEX16 deficiency,en,1,13024,98006,Rare neurologic disease,en,31740,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31739,642945,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945,en,Perrault syndrome type 1,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31739,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31738,642788,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642788,en,Cushing syndrome due to cortisol-producing adrenocortical adenoma,en,1,12996,97978,Rare endocrine disease,en,31738,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31737,642763,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642763,en,Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31737,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31736,642747,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642747,en,PUM1-related cerebellar ataxia,en,1,13024,98006,Rare neurologic disease,en,31736,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31734,642691,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642691,en,Fragile X-associated primary ovarian insufficiency,en,1,12996,97978,Rare endocrine disease,en,31734,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31733,642675,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642675,en,CHD8 overgrowth syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31733,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31732,642671,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642671,en,Familial hyperaldosteronism type IV,en,1,12996,97978,Rare endocrine disease,en,31732,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31731,642099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099,en,"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type",en,1,12333,93419,Rare bone disease,en,31731,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31730,642085,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085,en,"Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type",en,1,12333,93419,Rare bone disease,en,31730,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31729,642071,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071,en,Primary pulmonary vein stenosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31729,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31658,632603,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603,en,Mesomelic dysplasia-digital anomalies-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31658,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31662,633021,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633021,en,SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome,en,1,13024,98006,Rare neurologic disease,en,31662,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31663,633024,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633024,en,SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome,en,1,13024,98006,Rare neurologic disease,en,31663,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31660,633004,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633004,en,KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31660,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31661,633014,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633014,en,SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome,en,1,13024,98006,Rare neurologic disease,en,31661,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31679,633211,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633211,en,Preaxial digit brachydactyly-webbed fingers,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31679,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31676,633124,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633124,en,Invasive scopulariopsis infection,en,1,10557,68416,Rare infectious disease,en,31676,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31665,633035,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035,en,Intellectual disability-early-onset cataract-microcephaly syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31665,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31664,633028,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028,en,CPE-related Prader-Willi-like syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31664,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31670,633099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633099,en,PAICS deficiency,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31670,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31668,633076,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633076,en,"Split cord malformation, composite type",en,1,12469,93890,Rare developmental defect during embryogenesis,en,31668,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31318,615938,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938,en,Spastic paraparesis-cataracts-speech delay syndrome,en,1,10507,68367,Rare inborn errors of metabolism,en,31318,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31319,615943,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615943,en,Granuloma faciale,en,1,11896,89826,Rare skin disease,en,31319,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31324,615986,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615986,en,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31324,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31322,615970,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615970,en,Chronic intervillositis of unknown etiology,en,1,12845,96344,Rare gynecologic or obstetric disease,en,31322,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31323,615983,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615983,en,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31323,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31320,615954,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615954,en,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31320,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31321,615964,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615964,en,Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate,en,1,13024,98006,Rare neurologic disease,en,31321,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31348,617449,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617449,en,Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome,en,1,12984,97966,Rare ophthalmic disorder,en,31348,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31346,617408,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617408,en,Classic eosinophilic pustular folliculitis,en,1,11896,89826,Rare skin disease,en,31346,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31347,617440,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617440,en,Painful legs and moving toes syndrome,en,1,13024,98006,Rare neurologic disease,en,31347,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31340,617304,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617304,en,Amniotic fluid embolism,en,1,12845,96344,Rare gynecologic or obstetric disease,en,31340,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31337,617294,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617294,en,Twin anemia-polycythemia sequence,en,1,12845,96344,Rare gynecologic or obstetric disease,en,31337,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31336,616874,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=616874,en,Rare disorder without a determined diagnosis after full investigation,en,0,,,,,,,,, +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31339,617301,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617301,en,Selective intrauterine growth restriction,en,1,12845,96344,Rare gynecologic or obstetric disease,en,31339,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31338,617297,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617297,en,Twin-reversed arterial perfusion sequence,en,1,12845,96344,Rare gynecologic or obstetric disease,en,31338,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31449,621758,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758,en,Fibrosis-neurodegeneration-cerebral angiomatosis syndrome,en,1,12974,97955,Rare respiratory disease,en,31449,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31442,620371,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371,en,Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,en,1,12456,93626,Rare renal disease,en,31442,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31441,620368,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620368,en,EGF-related primary hypomagnesemia with intellectual disability,en,1,12456,93626,Rare renal disease,en,31441,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31440,620363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363,en,Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,en,1,12456,93626,Rare renal disease,en,31440,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31438,620217,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620217,en,Bartter syndrome type 1,en,1,12456,93626,Rare renal disease,en,31438,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31439,620220,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620220,en,Bartter syndrome type 2,en,1,12456,93626,Rare renal disease,en,31439,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31436,620205,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620205,en,Non-syndromic bicoronal and sagittal craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31436,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31437,620212,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620212,en,Non-syndromic pansynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31437,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31434,620192,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620192,en,Non-syndromic metopic and sagittal craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31434,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31435,620198,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620198,en,Non-syndromic bicoronal and metopic craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31435,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31432,620178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620178,en,Non-syndromic bilambdoid craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31432,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31433,620186,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620186,en,Non-syndromic unicoronal and sagittal craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31433,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31431,620158,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620158,en,Non-syndromic non-specific multisutural craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31431,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31428,620139,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620139,en,Non-syndromic unifrontosphenoidal craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31428,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31429,620146,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620146,en,Non-syndromic unisquamosal craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31429,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31426,620102,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620102,en,Non-syndromic unicoronal craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31426,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31427,620113,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620113,en,Non-syndromic unilambdoid craniosynostosis,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31427,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31477,624268,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624268,en,Non-specific autoimmune cerebellar ataxia without characteristic antibodies,en,1,13024,98006,Rare neurologic disease,en,31477,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31476,624259,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624259,en,Non-specific autoimmune cerebellar ataxia with characteristic antibodies,en,1,13024,98006,Rare neurologic disease,en,31476,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31473,624199,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624199,en,Non-specific autoimmune brainstem encephalitis with characteristic antibodies,en,1,13024,98006,Rare neurologic disease,en,31473,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31472,624190,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624190,en,Paraneoplastic isolated brainstem encephalitis,en,1,13024,98006,Rare neurologic disease,en,31472,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31475,624244,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624244,en,Postinfectious cerebellitis,en,1,13024,98006,Rare neurologic disease,en,31475,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31474,624216,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624216,en,Non-specific autoimmune brainstem encephalitis without characteristic antibodies,en,1,13024,98006,Rare neurologic disease,en,31474,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31468,623789,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623789,en,Body integrity dysphoria,en,1,13024,98006,Rare neurologic disease,en,31468,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31469,623801,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623801,en,Acute flaccid myelitis,en,1,13024,98006,Rare neurologic disease,en,31469,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31470,624166,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624166,en,Non-specific autoimmune supratentorial encephalitis with characteristic antibodies,en,1,13024,98006,Rare neurologic disease,en,31470,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31471,624178,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624178,en,Non-specific autoimmune supratentorial encephalitis without characteristic antibodies,en,1,13024,98006,Rare neurologic disease,en,31471,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31464,623615,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623615,en,Autoimmune limbic encephalitis,en,1,13024,98006,Rare neurologic disease,en,31464,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31465,623626,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623626,en,Paraneoplastic cerebellar degeneration,en,1,13024,98006,Rare neurologic disease,en,31465,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31467,623695,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623695,en,MIR140-related spondyloepiphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,31467,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31460,622925,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622925,en,X-linked severe syndromic thoracic aortic aneurysm and dissection,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31460,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31461,622934,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622934,en,SBDS-related severe neonatal spondylometaphyseal dysplasia,en,1,12333,93419,Rare bone disease,en,31461,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31457,622099,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622099,en,Superior mesenteric artery syndrome,en,1,12954,97935,Rare gastroenterologic disease,en,31457,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31388,618891,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891,en,Chronic neurovisceral acid sphingomyelinase deficiency,en,1,10507,68367,Rare inborn errors of metabolism,en,31388,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31370,617910,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617910,en,Conjunctival malignant melanoma,en,1,19592,250908,Rare neoplastic disease,en,31370,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31371,617916,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617916,en,Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,en,1,12974,97955,Rare respiratory disease,en,31371,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31372,617919,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617919,en,F12-associated cold autoinflammatory syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,31372,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31373,617930,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617930,en,Hemophilia B Leyden,en,1,13010,97992,Rare hematologic disease,en,31373,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31417,619941,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619941,en,Immune deficiency due to impaired neutrophil phagocytosis and migration,en,1,13022,98004,Rare immune disease,en,31417,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31416,619367,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367,en,SAMD9L-associated autoinflammatory syndrome,en,1,13041,98023,Rare systemic or rheumatologic disease,en,31416,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31419,619953,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619953,en,Familial hyperinflammatory lymphoproliferative immunodeficiency,en,1,13022,98004,Rare immune disease,en,31419,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31418,619948,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948,en,Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome,en,1,13022,98004,Rare immune disease,en,31418,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31423,619979,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619979,en,Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,en,1,13022,98004,Rare immune disease,en,31423,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31422,619972,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619972,en,CADINS disease,en,1,13022,98004,Rare immune disease,en,31422,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31415,619363,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363,en,Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18,en,1,13041,98023,Rare systemic or rheumatologic disease,en,31415,TRUE,21485,Preferential parent,en +6/21/23 18:13,1.3.25 / 4.1.7 [2023-04-17] (orientdb version),Orphanet (c) 2023,jdbc:sybase:Tds:canard.orpha.net:2020,Creative Commons Attribution 4.0 International,en,CC-BY-4.0,https://creativecommons.org/licenses/by/4.0/legalcode,7325,31405,619233,http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233,en,Hereditary persistence of fetal hemoglobin-intellectual disability syndrome,en,1,12469,93890,Rare developmental defect during embryogenesis,en,31405,TRUE,21485,Preferential parent,en \ No newline at end of file diff --git a/RDAS_GFKG/OrphanMap/OrphanMap.ipynb b/RDAS_GFKG/OrphanMap/OrphanMap.ipynb new file mode 100644 index 0000000..e5a7852 --- /dev/null +++ b/RDAS_GFKG/OrphanMap/OrphanMap.ipynb @@ -0,0 +1,19194 @@ +{ + "cells": [ + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 999 + }, + "id": "BGeakebRaFwJ", + "outputId": "70a10407-1028-424a-cfc3-bb240bffa450" + }, + "outputs": [ + { + "output_type": "execute_result", + "data": { + "text/plain": [ + " abstract_text \\\n", + "0 SUMMARY - PROJECT 1\\nThe goal of this Center i... \n", + "1 PROJECT SUMMARY\\nThe thematic focus of this Ce... \n", + "2 PROJECT SUMMARY/ABSTRACT:\\nPROJECT 1 – WEE1 in... \n", + "3 Project Summary\\nReplication stress (RS) is de... \n", + "4 Project Summary\\nThe Administrative Core is le... \n", + ".. ... \n", + "995 Abstract\\nWhile breast cancer is one of the mo... \n", + "996 Project Summary\\nBRCA1 and BRCA2 are tumor sup... \n", + "997 Principal Investigator: Durham, Paul Louis\\nSu... \n", + "998 PROJECT SUMMARY – ADMINISTRATIVE CORE\\nThe Adm... \n", + "999 PROJECT SUMMARY\\nNearly 70% of the ~ 30 millio... \n", + "\n", + " project_title \\\n", + "0 Structural determinants and pharmacological mo... \n", + "1 Mechanisms underlying cortical local circuit r... \n", + "2 Targeting WEE1 in uterine serous or p53-mutate... \n", + "3 Combined ATR and P13k inhibition in uterine ca... \n", + "4 Administrative Core \n", + ".. ... \n", + "995 The role of UbcH7 in male breast cancer \n", + "996 Targeting BRCA1/2-deficient cancers with folat... \n", + "997 Grape Seed Extract Modulation of Peripheral an... \n", + "998 CONNECT: Collaborative Network for Nurturing E... \n", + "999 Alternative Nicotine Delivery Systems as Poten... \n", + "\n", + " phr_text \\\n", + "0 None \n", + "1 None \n", + "2 PROJECT NARRATIVE: PROJECT 1 – WEE1 inhibition... \n", + "3 Project Narrative\\nGenomic alterations associa... \n", + "4 Project Narrative\\nThe Administrative Core of ... \n", + ".. ... \n", + "995 None \n", + "996 Project Narrative\\nThe proposed project aims t... \n", + "997 Program Director/Principal Investigator (Last,... \n", + "998 None \n", + "999 PROJECT SUMMARY\\nThe average smoker attempts t... \n", + "\n", + " project_detail_url \\\n", + "0 https://reporter.nih.gov/project-details/10862385 \n", + "1 https://reporter.nih.gov/project-details/10862387 \n", + "2 https://reporter.nih.gov/project-details/10769256 \n", + "3 https://reporter.nih.gov/project-details/10769257 \n", + "4 https://reporter.nih.gov/project-details/10769259 \n", + ".. ... \n", + "995 https://reporter.nih.gov/project-details/10872709 \n", + "996 https://reporter.nih.gov/project-details/10872857 \n", + "997 https://reporter.nih.gov/project-details/10874826 \n", + "998 https://reporter.nih.gov/project-details/10876609 \n", + "999 https://reporter.nih.gov/project-details/10876755 \n", + "\n", + " pref_terms appl_id \\\n", + "0 Amino Acids;Attention;Behavioral;Binding;Bioch... 10862385 \n", + "1 ARHGEF5 gene;Acute;Adolescent;Affect;Alternati... 10862387 \n", + "2 Accounting;Area;Ascites;Biological Assay;Biolo... 10769256 \n", + "3 ARID1A gene;ATM deficient;ATR gene;Abbreviatio... 10769257 \n", + "4 Accountability;Advocate;Cancer Center;Clinical... 10769259 \n", + ".. ... ... \n", + "995 Accounting;Biological Models;Development;Disea... 10872709 \n", + "996 Ascorbic Acid;BRCA deficient;BRCA1 gene;BRCA2 ... 10872857 \n", + "997 Academic Research Enhancement Awards;Adenylate... 10874826 \n", + "998 Academia;Accountability;Adopted;Advisory Commi... 10876609 \n", + "999 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanol;... 10876755 \n", + "\n", + " project_num \n", + "0 1P50MH132775-01A1 \n", + "1 1P50MH132775-01A1 \n", + "2 1P01CA269021-01A1 \n", + "3 1P01CA269021-01A1 \n", + "4 1P01CA269021-01A1 \n", + ".. ... \n", + "995 1R03CA289857-01 \n", + "996 1R03CA289863-01 \n", + "997 1R15AT012501-01A1 \n", + "998 1U54OD036472-01 \n", + "999 1R01CA290541-01A1 \n", + "\n", + "[1000 rows x 7 columns]" + ], + "text/html": [ + "\n", + "
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0SUMMARY - PROJECT 1\\nThe goal of this Center i...Structural determinants and pharmacological mo...Nonehttps://reporter.nih.gov/project-details/10862385Amino Acids;Attention;Behavioral;Binding;Bioch...108623851P50MH132775-01A1
1PROJECT SUMMARY\\nThe thematic focus of this Ce...Mechanisms underlying cortical local circuit r...Nonehttps://reporter.nih.gov/project-details/10862387ARHGEF5 gene;Acute;Adolescent;Affect;Alternati...108623871P50MH132775-01A1
2PROJECT SUMMARY/ABSTRACT:\\nPROJECT 1 – WEE1 in...Targeting WEE1 in uterine serous or p53-mutate...PROJECT NARRATIVE: PROJECT 1 – WEE1 inhibition...https://reporter.nih.gov/project-details/10769256Accounting;Area;Ascites;Biological Assay;Biolo...107692561P01CA269021-01A1
3Project Summary\\nReplication stress (RS) is de...Combined ATR and P13k inhibition in uterine ca...Project Narrative\\nGenomic alterations associa...https://reporter.nih.gov/project-details/10769257ARID1A gene;ATM deficient;ATR gene;Abbreviatio...107692571P01CA269021-01A1
4Project Summary\\nThe Administrative Core is le...Administrative CoreProject Narrative\\nThe Administrative Core of ...https://reporter.nih.gov/project-details/10769259Accountability;Advocate;Cancer Center;Clinical...107692591P01CA269021-01A1
........................
995Abstract\\nWhile breast cancer is one of the mo...The role of UbcH7 in male breast cancerNonehttps://reporter.nih.gov/project-details/10872709Accounting;Biological Models;Development;Disea...108727091R03CA289857-01
996Project Summary\\nBRCA1 and BRCA2 are tumor sup...Targeting BRCA1/2-deficient cancers with folat...Project Narrative\\nThe proposed project aims t...https://reporter.nih.gov/project-details/10872857Ascorbic Acid;BRCA deficient;BRCA1 gene;BRCA2 ...108728571R03CA289863-01
997Principal Investigator: Durham, Paul Louis\\nSu...Grape Seed Extract Modulation of Peripheral an...Program Director/Principal Investigator (Last,...https://reporter.nih.gov/project-details/10874826Academic Research Enhancement Awards;Adenylate...108748261R15AT012501-01A1
998PROJECT SUMMARY – ADMINISTRATIVE CORE\\nThe Adm...CONNECT: Collaborative Network for Nurturing E...Nonehttps://reporter.nih.gov/project-details/10876609Academia;Accountability;Adopted;Advisory Commi...108766091U54OD036472-01
999PROJECT SUMMARY\\nNearly 70% of the ~ 30 millio...Alternative Nicotine Delivery Systems as Poten...PROJECT SUMMARY\\nThe average smoker attempts t...https://reporter.nih.gov/project-details/108767554-(methylnitrosamino)-1-(3-pyridyl)-1-butanol;...108767551R01CA290541-01A1
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\n" + ], + "application/vnd.google.colaboratory.intrinsic+json": { + "type": "dataframe", + "variable_name": "Abstract", + "summary": "{\n \"name\": \"Abstract\",\n \"rows\": 1000,\n \"fields\": [\n {\n \"column\": \"abstract_text\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 982,\n \"samples\": [\n \"PROJECT SUMMARY\\nInsulin resistance (IR) is necessary for the development of type 2 diabetes (T2D) and is a major cardiovascular\\ndiseases risk factor. IR has few therapeutic options and identification of new drug targets and novel IR\\nmechanisms would have a huge impact on public health. Although genome wide association studies (GWAS)\\nhave identified hundreds IR-associated genetic loci, there has been limited progress towards identifying causal\\ngenes and mechanisms.\\nOur colocalization analysis combined data from GWAS of IR-associated traits (T2D, fasting insulin, fasting\\nglucose, waist-hip ratio adjusted for body mass index, triglycerides and high-density lipoprotein cholesterol)\\nand expression quantitative trait loci (eQTL) within five tissues related to IR or T2D (subcutaneous and visceral\\nadipose tissue, skeletal muscle, liver and pancreas). The analysis identified specific causal IR genes in about\\n25% of IR loci and in half of these cases, the effects are attributable to effects in adipose tissue.\\nWe will extend our findings through larger colocalization studies and use single cell data to identify a credible\\nlist of adipose cell specific IR causal genes (Aim 1). In Aim 2, we will functionally characterize IR causal genes\\nfor cellular mechanisms of action as well as define gene regulatory networks by employing single cell analyses\\nof transcriptomes and epigenomes following CRISPR gene perturbation. In Aim 3, we will define the\\nphysiological role of causal genes in vivo by creating loss of function mouse models by combining a CRISPRi\\nmouse with the delivery of sgRNA and Cre recombinase via the adipose tissue specific AAV delivery system.\\nBy combining human genetics, computational analysis, and functional genomics tools, we will establish causal\\ngenes and their mechanisms of action in development of IR. This effort will lead to novel mechanisms and\\ndrugs targets to address the unmet need posed by IR, T2D and cardiovascular disease.\",\n \"Upon return from 1991 Gulf War (GW), many veterans began suffering from a wide range of health symptoms\\nof unknown etiology. These symptoms encompass 6 major domains including cognitive and sleep, pain,\\nneurological and cognitive, respiratory, gastrointestinal, and skin manifestations, which have come to be\\ncategorized as Gulf War Veterans\\u2019 illnesses (GWVI). GWVI is a multisystem disease estimated to affect 25% of\\nGW Era veterans. Neuroinflammation and neurodegeneration have been postulated to underlie GWVI\\nsymptoms. A need in the field is to better define GWVI, and distinguish symptom clusters within GWVI, in order\\nto develop targeted treatments. Our central hypothesis is that a comprehensive neurosensory testing\\nprotocol can be applied to the study of GWVI to distinguish GWVI case groups from controls and to\\nidentify sub-groups within GWVI. This protocol consists of applying quantitative sensory testing (QST)\\nstrategies to evaluate the integrity of sensory processing mechanisms (Aim 1), examining trigeminal neural\\ncircuit responses to light using functional magnetic resonance imaging (fMRI) (Aim 2), and examining neuro-\\ninflammatory signatures in blood (Aim 3) in individuals with GWVI and appropriate controls. The combined\\nresults of these three aims will allow us to examine which neurosensory metrics, in isolation or combination, are\\nmost useful in predicting GWVI phenotypes. Along with forwarding our understanding of GWVI pathophysiology,\\nthese data can be used to develop tests that can be used in the clinical arena to sub-group individuals based on\\nunderlying mechanisms, an important first step to developing targeted therapies.\",\n \"PROJECT SUMMARY/ABSTRACT\\nA substantial part of our diet and health regime involves bitter food and medicine. Bitter molecules bind bitter\\ntaste receptors (Tas2rs) and activate a sensory pathway that elicits an aversive taste sensation in the oral\\ncavity, mainly to avoid ingestion of toxins. Tas2rs are also found throughout the digestive tract, and bitter\\nstimuli in the gut a\\ufb00ect feeding behavior through gut peptide secretion and stimulation of sensory regions in\\nthe brain through the vagus nerve. Yet, it remains to be determined how sensory signaling from ingested\\nbitter molecules are transduced from gut to brain. Our lab discovered a population of specialized gut\\nenteroendocrine cells, called neuropod cells, that detect luminal nutrients in through apical sensors and\\ntransduce sensory signals to the brain in milliseconds, via the vagus nerve. This gut sensory pathway\\nregulates feeding behavior in real-time. The hypothesis of this application is that neuropod cells detect bitter\\nsignals through Tas2rs and transduce them onto vagal neurons. Preliminary \\ufb01ndings show that isolated small\\nintestinal neuropod cells are enriched for a subset of murine Tas2rs, compared to all other intestinal epithelial\\ncells. Expression of these Tas2rs is dynamic, as it decreases in response to bacterial endotoxins. Therefore,\\nneuropod cells may act as gut sensors for bitter compounds to communicate the valence of bitter molecules,\\nwhich range from toxic to medicinal. Speci\\ufb01c aim 1 will determine whether neuropod cells are activated by\\nbitter stimuli through Tas2r signaling. Expression of Tas2rs and their signaling molecules will be characterized\\nthroughout the gut and activation of neuropod cells in response to bitter molecules will be determined by\\ncalcium imaging. The requirement of Tas2rs for bitter signaling in neuropod cells will be determined through\\ntargeted knockouts of Tas2rs. Speci\\ufb01c aim 2 will determine whether neuropod cells signal luminal bitter\\nstimuli onto vagal neurons. The signaling molecule will be identi\\ufb01ed by release assays in intestinal organoids\\nand single neuropod cells in response to bitter molecules, and the sensory pathway will be determined by\\nmeasuring vagal activation by electrophysiology, in response to gut infusions of bitter molecules. Finally,\\npharmacological and optogenetic inhibition approaches will determine the requirement of neuropod cell\\nsignaling for this sensory pathway. This work will uncover how bitter stimuli in the gut are conveyed to the\\nbrain, bringing forth a new aspect of chemosensation and gut-brain communication for a variety of foods and\\nmedicine that are essential for our health.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_title\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 976,\n \"samples\": [\n \"Synaptic activity-driven Abeta generation and aggregation\",\n \"American Psychological Association Annual Meeting Early Career Investigator Poster Session\",\n \"Safeguarding Genetic Resources of Aquatic Biomedical Models\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"phr_text\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 932,\n \"samples\": [\n \"Hereditary Hemorrhagic Telangiectasia (HHT), a blood vessel disorder that can be passed from parents to\\nchildren, affects about 1 in 5000 people worldwide. In HHT, enlarged shunts (arteriovenous malformations,\\nAVMs) and entangled surface-level vessels (telangiectasias) form and can bleed, causing anemia, stroke, and\\neven death. The goal of this project is to develop a more effective mouse model to understand the mechanisms\\nunderlying AVM formation in HHT.\",\n \"PROJECT NARRATIVE\\nGlioblastoma (GBM), the most common malignant brain cancer, is notorious for wide dissemination in the brain;\\nhow invading GBM cells achieve invasiveness is poorly understood. Here, we will explore novel mechanisms\\ndriving invasion of GBM cells through confined space by applying innovative microchannel devices, fluorescent\\nprobes, new molecular reagents and live-cell imaging. We will also conduct proof-of-concept in vivo studies of\\nhow perturbation of mechanoelectrical membrane dynamics may curb GBM invasion, thus forming new\\nparadigms to study GBM mechanobiology and its translational potential.\",\n \"NARRATIVE\\nAlterations of metal homeostasis are characteristic of multiple pathologies, including neurodegeneration and\\ncancer. A reprogrammed iron metabolism is a key descriptor of malignant cells, which maintain increased iron\\nacquisition and retention. With the long-term goal of improving the current understanding of iron dysregulation\\nin human disease and its potential impact on cancer treatment, this research program focuses on the synthesis\\nand biological evaluation of a new generation of selective molecular tools for intracellular iron binding.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_detail_url\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 983,\n \"samples\": [\n \"https://reporter.nih.gov/project-details/10777951\",\n \"https://reporter.nih.gov/project-details/10701264\",\n \"https://reporter.nih.gov/project-details/10779705\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"pref_terms\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 968,\n \"samples\": [\n \"3' Untranslated Regions;Adult;Advisory Committees;Affect;Automobile Driving;Base Pairing;Bioinformatics;Biological Markers;Biology;Birth;Birth Weight;Body mass index;Breast Feeding;Breastfed infant;Cardiovascular Diseases;Child;Child Health;Childhood;Code;Cohort Studies;DNA Methylation;Data;Development;Disease;Educational Status;Epidemiologic Methods;Epidemiologist;Epidemiology;Epigenetic Process;Faculty;Fetal Growth;Future;Gene Expression;Genes;Genetic;Genetic Research;Genetic Transcription;Genomics;Genotype;Goals;Growth;Health;Home;Human Genetics;Human Milk;Infant;Intestines;Knowledge;Life;Measures;Mediating;Mediator;Mentors;Mentorship;Messenger RNA;Metabolic;Metabolic Diseases;Metabolism;Methods;MicroRNAs;Molecular;Molecular Epidemiology;National Institute of Child Health and Human Development;New Hampshire;Obesity;Outcome;Pattern;Phase;Placenta;Placental Biology;Population;Population Study;Positioning Attribute;Pregnancy;Proteins;Public Health Schools;Quantitative Trait Loci;Recommendation;Research;Research Design;Research Personnel;Research Project Grants;Research Support;Resources;Rhode Island;Role;Secure;Stimulus;Testing;Tissues;Training;Transcript;Universities;Untranslated RNA;Variant;Weight;Work;absorption;career;circulating microRNA;cohort;disorder prevention;early childhood;early life exposure;empowerment;epidemiology study;epigenetic regulation;experience;extracellular;follow-up;genetic variant;genome-wide;gestational weight gain;high risk;improved;insight;interest;multiple omics;next generation;nutrition;obese mothers;obesity in children;obesity risk;offspring;population based;posttranscriptional;prepregnancy;research study;response;skills;tenure track;transcriptome;transcriptomics;transgene expression\",\n \"Academic Medical Centers;Address;Affect;Age;Alaska Native;American Indians;Appointment;Artificial Intelligence;Award;Behavioral;Caring;Categories;Centers for Disease Control and Prevention (U.S.);Characteristics;Clinical;Collaborations;Communities;Competence;Data;Data Analyses;Diagnosis;Discrimination;Elderly;Electronic Health Record;Empirical Research;Ensure;Environmental Exposure;Ethics;Faculty;Foundations;Funding;Future;Gender;Goals;HIV;HIV Infections;Health;Housing;Human;Immunologic Deficiency Syndromes;Indigenous;Information Dissemination;Internal Medicine;Interview;Lead;Life;Life Style;Machine Learning;Measures;Mentors;Mentorship;Methods;Modeling;National Institute on Minority Health and Health Disparities;Natural Language Processing;Nurses;Outcome;Patients;Persons;Phase;Politics;Population;Positioning Attribute;Postdoctoral Fellow;Poverty;Provider;Public Health;Qualitative Methods;Qualitative Research;Race;Recording of previous events;Records;Reporting;Research;Research Methodology;Research Personnel;Resource Informatics;Risk;Role;Rural;Shapes;Social Work;Source;Text;Training;Trauma;United States National Library of Medicine;Viral;Viral Load result;Walking;Work;analytical method;biomedical informatics;career;community advisory board;community based participatory research;community building;community collaboration;community engagement;community research;community-centered;demographics;direct application;electronic structure;experience;food security;health data;health disparity;health equity;health organization;indigenous community;innovation;intergenerational;machine learning model;marginalization;marginalized community;marginalized population;medical specialties;mentoring community;multidisciplinary;pre-doctoral;programs;skills;social;social culture;social group;social health determinants;social structure;structured data;success;tenure track;transgender women;tribal community\",\n \"Abdominal Pain;Acidosis;Address;Admission activity;Agitation;Alcohol consumption;Alcohol dependence;Alcoholic Hepatitis;Alcoholic Liver Diseases;Alcohols;Animal Model;Animals;Anion Gap;Attenuated;Behavior;Bicarbonates;Biochemical;Blood;Blood Glucose;Brain;Brain region;Cessation of life;Chronic;Complication;Data;Dehydration;Development;Diagnosis;Diarrhea;Down-Regulation;Equilibrium;Exhibits;Fasting;Fatty Acids;Feedback;Foundations;Functional disorder;Generations;Gluconeogenesis;Glucose;Glycogen;Goals;Heavy Drinking;Hormones;Hospitals;Human;Impairment;Inflammation;Intervention;Ketone Bodies;Ketones;Knowledge;Liver;Measures;Mediating;Metabolic;Metabolic Diseases;Metabolic acidosis;Metabolism;Modeling;Molecular Analysis;Mus;Names;Nausea and Vomiting;Nonesterified Fatty Acids;Pathogenesis;Patients;Persons;Positioning Attribute;Predisposition;Prevention;Process;Production;Property;Proteins;Protocols documentation;Reporting;Research;Rewards;Risk;Risk Reduction;Role;Sedation procedure;Sodium Bicarbonate;Tachycardia;Testing;Work;alcohol reward;alcohol sensitivity;alcohol use disorder;animal model development;beta-Hydroxybutyrate;binge drinker;chronic alcohol ingestion;clinically relevant;experience;feeding;ketogenesis;ketogenic diet;knock-down;mouse model;novel;nutrition;problem drinker;protective effect;stressor\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"appl_id\",\n \"properties\": {\n \"dtype\": \"number\",\n \"std\": 50651,\n \"min\": 10590033,\n \"max\": 11075193,\n \"num_unique_values\": 983,\n \"samples\": [\n 10777951,\n 10701264,\n 10779705\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_num\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 929,\n \"samples\": [\n \"1I01CX002633-01\",\n \"1R21NS133508-01A1\",\n \"1R43AI174490-01A1\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n }\n ]\n}" + } + }, + "metadata": {}, + "execution_count": 2 + } + ], + "source": [ + "import pandas as pd\n", + "import requests\n", + "\n", + "def download_nih_data():\n", + " url = 'https://api.reporter.nih.gov/v2/projects/search'\n", + " headers = {\n", + " 'accept': 'application/json',\n", + " 'Content-Type': 'application/json',\n", + " }\n", + "\n", + " # Define parameters\n", + " total_data = []\n", + " limit = 200\n", + " num_requests = 1000// limit\n", + "\n", + " for offset in range(0, num_requests * limit, limit):\n", + " data = {\n", + " \"criteria\": {},\n", + " \"offset\": offset,\n", + " \"limit\": limit,\n", + " \"sort_field\": \"project_start_date\",\n", + " \"sort_order\": \"desc\"\n", + " }\n", + "\n", + " # Send POST request\n", + " response = requests.post(url, headers=headers, json=data)\n", + "\n", + " # Check if the request was successful (status code 200)\n", + " if response.status_code == 200:\n", + " # Parse and append the response JSON data to the total_data list\n", + " result_data = response.json()\n", + " total_data.extend(result_data.get('results', []))\n", + " else:\n", + " # Print an error message if the request was not successful\n", + " print(f\"Error: {response.status_code}, {response.text}\")\n", + " return\n", + "\n", + " # Convert total_data to DataFrame using pandas\n", + " columns_to_extract = [\"abstract_text\", \"project_title\", \"phr_text\",'project_detail_url', 'pref_terms','appl_id','project_num']\n", + " # '\n", + "\n", + " df = pd.json_normalize(total_data)[columns_to_extract]\n", + "\n", + " # Specify the path where you want to save the CSV file\n", + " #csv_path = r'C:\\Users\\valinejadj2\\Desktop\\Grant_data\\data3.csv'\n", + "\n", + " # Save DataFrame to CSV\n", + " #df.to_csv(csv_path, index=False)\n", + "\n", + " #print(f\"CSV file saved at: {csv_path}\")\n", + " return df\n", + "# Call the function to download NIH data and save it to CSV\n", + "Abstract=download_nih_data()\n", + "Abstract" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "E8wy9cs1vytL" + }, + "outputs": [], + "source": [ + "Abstract.to_csv('data.csv', index=False)" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "v-1ch4rP8hSz", + "outputId": "eb547010-54a1-4744-933f-19eb2b990150" + }, + "outputs": [ + { + "name": "stdout", + "output_type": "stream", + "text": [ + "Available fields:\n", + "appl_id\n", + "subproject_id\n", + "fiscal_year\n", + "project_num\n", + "project_serial_num\n", + "organization\n", + "award_type\n", + "activity_code\n", + "award_amount\n", + "is_active\n", + "project_num_split\n", + "principal_investigators\n", + "contact_pi_name\n", + "program_officers\n", + "agency_ic_admin\n", + "agency_ic_fundings\n", + "cong_dist\n", + "spending_categories\n", + "project_start_date\n", + "project_end_date\n", + "organization_type\n", + "opportunity_number\n", + "full_study_section\n", + "award_notice_date\n", + "is_new\n", + "mechanism_code_dc\n", + "core_project_num\n", + "terms\n", + "pref_terms\n", + "abstract_text\n", + "project_title\n", + "phr_text\n", + "spending_categories_desc\n", + "agency_code\n", + "covid_response\n", + "arra_funded\n", + "budget_start\n", + "budget_end\n", + "cfda_code\n", + "funding_mechanism\n", + "direct_cost_amt\n", + "indirect_cost_amt\n", + "project_detail_url\n", + "date_added\n" + ] + } + ], + "source": [ + "import os\n", + "import requests\n", + "\n", + "def download_nih_data():\n", + " url = 'https://api.reporter.nih.gov/v2/projects/search'\n", + "\n", + " headers = {\n", + " 'accept': 'application/json',\n", + " 'Content-Type': 'application/json',\n", + " }\n", + "\n", + " data = {\n", + " \"criteria\": {},\n", + " #\"include_fields\": [],\n", + " \"offset\": 0,\n", + " \"limit\": 1, # Set limit to 1 to get a small sample response\n", + " \"sort_field\": \"project_start_date\",\n", + " \"sort_order\": \"desc\"\n", + " }\n", + "\n", + " # Send POST request\n", + " response = requests.post(url, headers=headers, json=data)\n", + "\n", + " # Check if the request was successful (status code 200)\n", + " if response.status_code == 200:\n", + " # Parse and print the response JSON data\n", + " result_data = response.json()\n", + " if result_data and \"results\" in result_data and result_data[\"results\"]:\n", + " # Print the available fields from the first result\n", + " #print(result_data[\"results\"])\n", + " available_fields = list(result_data[\"results\"][0].keys())\n", + " print(\"Available fields:\")\n", + " for field in available_fields:\n", + " print(field)\n", + " else:\n", + " print(\"No results found.\")\n", + " else:\n", + " # Print an error message if the request was not successful\n", + " print(f\"Error: {response.status_code}, {response.text}\")\n", + "\n", + "# Call the function to download NIH data\n", + "download_nih_data()" + ] + }, + { + "cell_type": "markdown", + "metadata": { + "id": "vMCx1S37aIe4" + }, + "source": [ + "# GardNamePreprocessor" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "NIea8qYKbSlK" + }, + "outputs": [], + "source": [ + "import pandas as pd\n", + "# Read the CSV file into a Pandas DataFrame\n", + "Gard = pd.read_csv('/content/exporttttt.csv')\n", + "import nltk\n", + "nltk.download('punkt')\n", + "from nltk.stem import PorterStemmer\n", + "from nltk.tokenize import word_tokenize\n", + "import re\n", + "import json\n", + "def extract_words_from_json_string(json_string):\n", + " try:\n", + " word_list = json.loads(json_string)\n", + " words = [word.replace('\"', '').strip() for word in word_list ]\n", + " return words\n", + " except (json.JSONDecodeError, TypeError) as e:\n", + " #print(f\"Error decoding JSON: {e}\")\n", + " return []\n", + "\n", + "Gard['GardName'] = Gard['GardName'].apply(lambda x: str(x).replace('\"', '').lower())\n", + "Gard['Synonyms'] = Gard['Synonyms'].apply(lambda x: extract_words_from_json_string(str(x).lower()))\n", + "\n", + "import pandas as pd\n", + "def remove_similar_strings(df):\n", + " for i in df.index:\n", + " if i % 2000 ==0 : print(i)\n", + " for j in df.index:\n", + " if i != j:\n", + " string_a = df['GardName'][i]\n", + " list_b = df['Synonyms'][j]\n", + " for item in list_b: # Using [:] for iterating a copy of the list\n", + " if item == string_a:\n", + " list_b.remove(item)\n", + " return df\n", + "\n", + "Gard= remove_similar_strings(Gard)" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "tKhnsUHhaLkF", + "outputId": "f7d76686-7fcb-4225-bb36-b7b2f04434d1" + }, + "outputs": [ + { + "output_type": "stream", + "name": "stderr", + "text": [ + "[nltk_data] Downloading package stopwords to /root/nltk_data...\n", + "[nltk_data] Unzipping corpora/stopwords.zip.\n", + "[nltk_data] Downloading package punkt to /root/nltk_data...\n", + "[nltk_data] Unzipping tokenizers/punkt.zip.\n", + "[nltk_data] Downloading package punkt to /root/nltk_data...\n", + "[nltk_data] Package punkt is already up-to-date!\n" + ] + } + ], + "source": [ + "import pandas as pd\n", + "import ast\n", + "def extract_words_from_json_string(input_string):\n", + " try:\n", + " # Use ast.literal_eval to safely convert the string to a list\n", + " result_list = ast.literal_eval(input_string)\n", + " if isinstance(result_list, list):\n", + " return result_list\n", + " else:\n", + " raise ValueError(\"Input is not a string representation of a list.\")\n", + " except (ValueError, SyntaxError) as e:\n", + " print(f\"Error converting string to list: {e}\")\n", + " return None\n", + "\n", + "def len_chcek(row):\n", + " return [w for w in row if (len(w) >4) or (w == \"sars\") ]\n", + "\n", + "\n", + "Gard = pd.read_csv('/content/Gard_V1.csv')\n", + "Gard['Synonyms'] = Gard['Synonyms'].apply(lambda x: extract_words_from_json_string(x))\n", + "Gard['Synonyms'] =Gard['GardName'].apply(lambda x: [x])+Gard['Synonyms']\n", + "\n", + "####################### BOW ########################################################################\n", + "from itertools import permutations\n", + "def generate_term_orders(terms):\n", + " words = terms.split()\n", + " if len(words) ==2:\n", + " all_permutations = list(permutations(words))\n", + " orders = [' '.join(permutation) for permutation in all_permutations]\n", + " return orders\n", + " else: return [terms]\n", + "\n", + "def generate_term_orders_list_of_sords(words):\n", + " X=[]\n", + " for i in words:\n", + " X+=generate_term_orders(i)\n", + " return X\n", + "#Gard['Synonyms_bow']=Gard['Synonyms'].apply(lambda x: generate_term_orders_list_of_sords(x) )\n", + "\n", + "######################## Removing stop words #########################################################\n", + "import nltk\n", + "from nltk.corpus import stopwords\n", + "from nltk.tokenize import word_tokenize\n", + "# Download the stop words dataset\n", + "nltk.download('stopwords')\n", + "nltk.download('punkt')\n", + "\n", + "def process_row(row):\n", + " words = row.split()\n", + " if len(words) > 2 :\n", + " words = [word.lower() for word in words if word.lower() not in ['syndrome','syndromes', 'disease','diseases']]\n", + " return ' '.join(words)\n", + "def process_row_list(row):\n", + " return [process_row(w) for w in row]\n", + "Gard['Synonyms_sw'] = Gard['Synonyms']#.apply(lambda x: process_row_list(x))\n", + "Gard['Synonyms_sw_bow']=Gard['Synonyms_sw'].apply(lambda x: generate_term_orders_list_of_sords(x) )\n", + "Gard['Synonyms_sw_bow']=Gard['Synonyms_sw_bow'].apply(lambda x: list(set(len_chcek(x))) )\n", + "\n", + "def remove_stop_words(text):\n", + " stop_words = set(stopwords.words('english'))\n", + " words = word_tokenize(text)\n", + " filtered_words = [word for word in words if word.lower() not in stop_words]\n", + " return ' '.join(filtered_words)\n", + "def process_row_list_2(row):\n", + " return [remove_stop_words(w) if (remove_stop_words(w) != '' and len(w.split()) > 2) else w for w in row]\n", + "\n", + "#Gard['Synonyms_sw_nltk'] = Gard['Synonyms_sw'].apply(lambda x: process_row_list_2(x))\n", + "#Gard['Synonyms_sw_nltk']=Gard['Synonyms_sw_nltk']+Gard['Synonyms_sw']\n", + "#Gard['Synonyms_sw_nltk'] = Gard['Synonyms_sw_nltk'].apply(lambda x: list(set(x)))\n", + "\n", + "######################## Text stemming #########################################################\n", + "import nltk\n", + "nltk.download('punkt')\n", + "from nltk.stem import PorterStemmer\n", + "from nltk.tokenize import word_tokenize\n", + "import re\n", + "def stem_text(text):\n", + " # Initialize the Porter Stemmer\n", + " stemmer = PorterStemmer()\n", + " # Remove punctuation\n", + " text_without_punctuation = re.sub(r'[^\\w\\s]', '', text)\n", + " # Tokenize the text into words\n", + " words = word_tokenize(text_without_punctuation)\n", + " # Perform stemming on each word\n", + " stemmed_words = [stemmer.stem(word) for word in words]\n", + " # Join the stemmed words back into a single string\n", + " stemmed_text = ' '.join(stemmed_words)\n", + " return stemmed_text\n", + "def stem_text_list(row):\n", + " return [stem_text(w) for w in row if len(stem_text(w)) >2 ]\n", + "\n", + "#Gard['Synonyms_stem'] = Gard['Synonyms'].apply(lambda x: stem_text_list(x))\n", + "#Gard['Synonyms_stem_bow']=Gard['Synonyms_stem'].apply(lambda x: generate_term_orders_list_of_sords(x) )\n", + "Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw'].apply(lambda x: stem_text_list(x))\n", + "Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem'].apply(lambda x: generate_term_orders_list_of_sords(x) )\n", + "#### make different\n", + "Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw_stem'].apply(lambda x:list(set(len_chcek(x))) )\n", + "Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem_bow'].apply(lambda x: list(set(len_chcek(x))) )\n", + "\n", + "Gard['Synonyms_sw'] = Gard['Synonyms_sw'].apply(lambda x: list(set(len_chcek(x))) )\n", + "\n", + "\n", + "Excluding_list = [\n", + " 'GARD:10311', 'GARD:10984', 'GARD:12351', 'GARD:12352', 'GARD:12638',\n", + " 'GARD:12915', 'GARD:12976', 'GARD:12977', 'GARD:15010', 'GARD:15042',\n", + " 'GARD:15066', 'GARD:15076', 'GARD:15080', 'GARD:15092', 'GARD:15112',\n", + " 'GARD:15119', 'GARD:15191', 'GARD:15192', 'GARD:15211', 'GARD:15300',\n", + " 'GARD:15315', 'GARD:15316', 'GARD:15357', 'GARD:15388', 'GARD:15394',\n", + " 'GARD:15395', 'GARD:15401', 'GARD:15402', 'GARD:15403', 'GARD:15415',\n", + " 'GARD:15422', 'GARD:15432', 'GARD:15443', 'GARD:15467', 'GARD:15483',\n", + " 'GARD:15504', 'GARD:15513', 'GARD:15525', 'GARD:15555', 'GARD:15564',\n", + " 'GARD:15565', 'GARD:15566', 'GARD:15567', 'GARD:15587', 'GARD:15600',\n", + " 'GARD:15603', 'GARD:15604', 'GARD:15605', 'GARD:15606', 'GARD:15607',\n", + " 'GARD:15608', 'GARD:15632', 'GARD:15637', 'GARD:15650', 'GARD:15651',\n", + " 'GARD:15657', 'GARD:15659', 'GARD:15696', 'GARD:15697', 'GARD:15752',\n", + " 'GARD:15779', 'GARD:15784', 'GARD:15785', 'GARD:15788', 'GARD:15848',\n", + " 'GARD:15853', 'GARD:15854', 'GARD:15986', 'GARD:15992', 'GARD:16059',\n", + " 'GARD:16131', 'GARD:16161', 'GARD:16184', 'GARD:16265', 'GARD:16267',\n", + " 'GARD:16269', 'GARD:16334', 'GARD:16337', 'GARD:16823', 'GARD:17047',\n", + " 'GARD:17343', 'GARD:17457', 'GARD:17458', 'GARD:17459', 'GARD:17460',\n", + " 'GARD:17461', 'GARD:17462', 'GARD:17463', 'GARD:17464', 'GARD:17465',\n", + " 'GARD:17514', 'GARD:17612', 'GARD:17795', 'GARD:17861', 'GARD:18046',\n", + " 'GARD:18057', 'GARD:18059', 'GARD:18060', 'GARD:18061', 'GARD:18259',\n", + " 'GARD:18285', 'GARD:18304', 'GARD:18384', 'GARD:18385', 'GARD:18472',\n", + " 'GARD:18477', 'GARD:18479', 'GARD:18485', 'GARD:18486', 'GARD:18512',\n", + " 'GARD:18550', 'GARD:18575', 'GARD:18577', 'GARD:18578', 'GARD:18579',\n", + " 'GARD:18580', 'GARD:18581', 'GARD:18582', 'GARD:18594', 'GARD:18595',\n", + " 'GARD:18596', 'GARD:18608', 'GARD:18609', 'GARD:18613', 'GARD:20322',\n", + " 'GARD:21425', 'GARD:2162', 'GARD:21865', 'GARD:22318', 'GARD:22319',\n", + " 'GARD:2456', 'GARD:3363', 'GARD:3364', 'GARD:3365', 'GARD:3366',\n", + " 'GARD:3367', 'GARD:3368', 'GARD:9185'\n", + "]\n", + "Excluding_list = ['GARD:{:07d}'.format(int(gard_id.split(':')[1])) for gard_id in Excluding_list]\n", + "Gard['GardId'] = Gard['GardId'].str.strip('\"')\n", + "Gard = Gard[~Gard['GardId'].isin(Excluding_list)]" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "ASrhgH8tnaNx" + }, + "outputs": [], + "source": [ + "help=pd.read_csv('/content/J_GARD_master.csv')\n", + "source_dict = {}\n", + "for index, row in help.iterrows():\n", + " source_name = row['SourceName']\n", + " source_description = row['SourceDescription']\n", + " if type(source_name) ==str:\n", + " source_dict[source_name.lower()] = source_description\n", + "\n", + "def get_def(a):\n", + " A=source_dict[a.lower()]\n", + " if type(A)==str: return A\n", + " else: return a\n", + "Gard['GardNamedef']=Gard.apply(lambda x: get_def(x['GardName']), axis=1)" + ] + }, + { + "cell_type": "markdown", + "metadata": { + "id": "AXLmdZvdbwn8" + }, + "source": [ + "# GardNameExtractor" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "LTTJge7Ta_PW" + }, + "outputs": [], + "source": [ + "#Gard.to_csv('Gard_V1.csv', index=False)\n", + "#Abstract = pd.read_csv('/content/Abstract_v5 (1).csv')#/content/abstract.csv')\n", + "Abstract = pd.read_csv('/content/check_.csv')#/content/abstract.csv')" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "cC7g-SL4hRfv" + }, + "outputs": [], + "source": [ + "import re\n", + "\n", + "# Compile the regular expression pattern outside the function\n", + "word_pattern = re.compile(r'\\b\\w+\\b')\n", + "\n", + "def split_sentence(sentence):\n", + " # Use the pre-compiled pattern for splitting\n", + " words = word_pattern.findall(sentence)\n", + " return words\n", + "\n", + "\n", + "\n", + "def word_matching(text,word):\n", + " for i in split_sentence(word):\n", + " if i not in text:\n", + " return False\n", + " return True\n", + "\n", + "def get_gard_title(text, list_chcek):\n", + " if list_chcek in ['Synonyms_stem','Synonyms_sw_stem','Synonyms_stem_bow','Synonyms_sw_stem_bow']: text1=stem_text(text.lower())\n", + " elif list_chcek in [ 'Synonyms_sw_nltk'] : text1=remove_stop_words(text.lower())\n", + " else: text1=text.lower()\n", + " text2=split_sentence(text1)\n", + " out=dict()\n", + " for i in Gard.index:\n", + " if Gard[list_chcek][i] != []:\n", + " for j in Gard[list_chcek][i]:\n", + " if j in text1 and word_matching(text2,j)==True:\n", + " if Gard['GardName'][i] in out:\n", + " if len(j.split()) ==1: out[Gard['GardName'][i]][0]+=text2.count(j)\n", + " else: out[Gard['GardName'][i]][0]+=text1.count(j)\n", + " else:\n", + " if len(j.split()) ==1:out[Gard['GardName'][i]]=[text2.count(j)]\n", + " else: out[Gard['GardName'][i]]=[text1.count(j)]\n", + " if out== {}: return None\n", + " return out\n", + "\n", + "def get_gard_title_stem_exact(text):\n", + " exact_matching = get_gard_title(text, 'Synonyms_sw_bow') or {}\n", + " Stemming_check = get_gard_title(text, 'Synonyms_sw_stem_bow') or {}\n", + " combined_dict = {**exact_matching, **Stemming_check} # Merge dictionaries\n", + " # Remove keys that are part of another key\n", + " keys_to_remove = {key1 for key1 in combined_dict for key2 in combined_dict if key1 != key2 and key1 in key2}\n", + " combined_dict = {key: 1 for key in combined_dict if key not in keys_to_remove}\n", + " return combined_dict or None" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "o3X13m3ZiHBl", + "outputId": "2b43dd3c-3e77-4b6d-ff11-a130217fb242" + }, + "outputs": [ + { + "output_type": "execute_result", + "data": { + "text/plain": [ + "{'duchenne muscular dystrophy': 1}" + ] + }, + "metadata": {}, + "execution_count": 7 + } + ], + "source": [ + "get_gard_title_stem_exact('RECOMBINANT DNA STRATEGIES--DUCHENNE MUSCULAR DYSTROPHY')" + ] + }, + { + "cell_type": "code", + "source": [ + "import time\n", + "start_time = time.time()\n", + "Abstract['Gard_name_title_finalized'] = Abstract.apply(lambda x: get_gard_title_stem_exact(x['project_title']), axis=1)\n", + "end_time = time.time()\n", + "processing_time = end_time - start_time\n", + "print(f\"Processing time: {processing_time} seconds\")" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "1f6cEnB4iCH9", + "outputId": "4fbb57ce-71f1-4df1-822c-4fdd8085f416" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "Processing time: 319.55543780326843 seconds\n" + ] + } + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "3z9fSulbjOI7" + }, + "outputs": [], + "source": [ + "import spacy\n", + "# Load spaCy model with sentencizer component\n", + "nlp = spacy.load(\"en_core_web_sm\")\n", + "# Function to determine verb tense\n", + "def get_verb_tense(verb):\n", + " if \"VBD\" in verb.tag_:\n", + " return \"past\"\n", + " elif (\"MD\" in verb.tag_ and \"will\" in verb.lemma_.lower()) or ('aim' in verb.lemma_.lower() ) :\n", + " return \"future\"\n", + " elif \"VBP\" in verb.tag_ or \"VBZ\" in verb.tag_:\n", + " return \"present\"\n", + " else:\n", + " return \"unknown\"\n", + "# Function to determine if a sentence is negated\n", + "def is_sentence_negated(sentence):\n", + " for token in sentence:\n", + " if token.dep_ == \"neg\":\n", + " return True\n", + " return False\n", + "\n", + "\n", + "def check_sen(text):\n", + " # Process the text\n", + " doc = nlp(text)\n", + " # Iterate over sentences in the document\n", + " first_sentence = ''\n", + " Priority,Future_positive,present_positive,positive='','','',''\n", + " for i, sent in enumerate(doc.sents, 1):\n", + " # Initialize a set to store unique tenses in the sentence\n", + " sentence_tenses = set()\n", + " # Iterate over tokens in the sentence\n", + " for token in sent:\n", + " # Check if the token is a verb\n", + " if token.pos == spacy.symbols.VERB or token.pos == spacy.symbols.AUX:\n", + " # Check the tense of the verb\n", + " tense = get_verb_tense(token)\n", + " sentence_tenses.add(tense)\n", + "\n", + " # Determine the overall tense of the sentence\n", + " if is_sentence_negated(sent)==False and (\"past\" not in sentence_tenses):\n", + " if i == 1: first_sentence = sent.text\n", + " #positive+=sent.text\n", + " elif (\"the goal of\" in sent.text.lower()) or (\"aim\" in sent.text.lower()):\n", + " Priority+=sent.text\n", + " elif \"future\" in sentence_tenses:\n", + " Future_positive+=sent.text\n", + " elif \"present\" in sentence_tenses and is_sentence_negated(sent)==False:\n", + " present_positive+=sent.text\n", + " if i == 1: first_sentence = sent.text\n", + " return first_sentence,Priority,Future_positive,present_positive #,\n", + "# Sample text\n", + "text = \"The goal of tis project was ird. This aim is not to go the first sentence. This is not the second sentence? And this is the third sentence.\"\n", + "check_sen(text)\n", + "\n", + "\n", + "def split_sentences_(text):\n", + " sentences = re.split(r'(?=0.19.3 in /usr/local/lib/python3.10/dist-packages (from transformers) (0.20.3)\n", + "Requirement already satisfied: numpy>=1.17 in /usr/local/lib/python3.10/dist-packages (from transformers) (1.25.2)\n", + "Requirement already satisfied: packaging>=20.0 in /usr/local/lib/python3.10/dist-packages (from transformers) (24.0)\n", + "Requirement already satisfied: pyyaml>=5.1 in /usr/local/lib/python3.10/dist-packages (from transformers) (6.0.1)\n", + "Requirement already satisfied: regex!=2019.12.17 in /usr/local/lib/python3.10/dist-packages (from transformers) (2023.12.25)\n", + "Requirement already satisfied: requests in /usr/local/lib/python3.10/dist-packages (from transformers) (2.31.0)\n", + "Requirement already satisfied: tokenizers<0.20,>=0.19 in /usr/local/lib/python3.10/dist-packages (from transformers) (0.19.1)\n", + "Requirement already 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+ " Using cached nvidia_cuda_cupti_cu12-12.1.105-py3-none-manylinux1_x86_64.whl (14.1 MB)\n", + "Collecting nvidia-cudnn-cu12==8.9.2.26 (from torch>=1.11.0->sentence-transformers)\n", + " Using cached nvidia_cudnn_cu12-8.9.2.26-py3-none-manylinux1_x86_64.whl (731.7 MB)\n", + "Collecting nvidia-cublas-cu12==12.1.3.1 (from torch>=1.11.0->sentence-transformers)\n", + " Using cached nvidia_cublas_cu12-12.1.3.1-py3-none-manylinux1_x86_64.whl (410.6 MB)\n", + "Collecting nvidia-cufft-cu12==11.0.2.54 (from torch>=1.11.0->sentence-transformers)\n", + " Using cached nvidia_cufft_cu12-11.0.2.54-py3-none-manylinux1_x86_64.whl (121.6 MB)\n", + "Collecting nvidia-curand-cu12==10.3.2.106 (from torch>=1.11.0->sentence-transformers)\n", + " Using cached nvidia_curand_cu12-10.3.2.106-py3-none-manylinux1_x86_64.whl (56.5 MB)\n", + "Collecting nvidia-cusolver-cu12==11.4.5.107 (from torch>=1.11.0->sentence-transformers)\n", + " Using cached nvidia_cusolver_cu12-11.4.5.107-py3-none-manylinux1_x86_64.whl 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/usr/local/lib/python3.10/dist-packages (from sympy->torch>=1.11.0->sentence-transformers) (1.3.0)\n", + "Installing collected packages: xxhash, nvidia-nvtx-cu12, nvidia-nvjitlink-cu12, nvidia-nccl-cu12, nvidia-curand-cu12, nvidia-cufft-cu12, nvidia-cuda-runtime-cu12, nvidia-cuda-nvrtc-cu12, nvidia-cuda-cupti-cu12, nvidia-cublas-cu12, dill, nvidia-cusparse-cu12, nvidia-cudnn-cu12, multiprocess, huggingface-hub, nvidia-cusolver-cu12, datasets, sentence-transformers\n", + " Attempting uninstall: huggingface-hub\n", + " Found existing installation: huggingface-hub 0.20.3\n", + " Uninstalling huggingface-hub-0.20.3:\n", + " Successfully uninstalled huggingface-hub-0.20.3\n", + "Successfully installed datasets-2.19.0 dill-0.3.8 huggingface-hub-0.22.2 multiprocess-0.70.16 nvidia-cublas-cu12-12.1.3.1 nvidia-cuda-cupti-cu12-12.1.105 nvidia-cuda-nvrtc-cu12-12.1.105 nvidia-cuda-runtime-cu12-12.1.105 nvidia-cudnn-cu12-8.9.2.26 nvidia-cufft-cu12-11.0.2.54 nvidia-curand-cu12-10.3.2.106 nvidia-cusolver-cu12-11.4.5.107 nvidia-cusparse-cu12-12.1.0.106 nvidia-nccl-cu12-2.19.3 nvidia-nvjitlink-cu12-12.4.127 nvidia-nvtx-cu12-12.1.105 sentence-transformers-2.7.0 xxhash-3.4.1\n" + ] + }, + { + "output_type": "stream", + "name": "stderr", + "text": [ + "/usr/local/lib/python3.10/dist-packages/huggingface_hub/utils/_token.py:89: UserWarning: \n", + "The secret `HF_TOKEN` does not exist in your Colab secrets.\n", + "To authenticate with the Hugging Face Hub, create a token in your settings tab (https://huggingface.co/settings/tokens), set it as secret in your Google Colab and restart your session.\n", + "You will be able to reuse this secret in all of your notebooks.\n", + "Please note that authentication is recommended but still optional to access public models or datasets.\n", + " warnings.warn(\n" + ] + }, + { + "output_type": "display_data", + "data": { + "text/plain": [ + "tokenizer_config.json: 0%| | 0.00/28.0 [00:00=0.5:\n", + " #sen_has_gard=get_sen(input_text.lower(), key,title_)\n", + " defin=get_def(key)\n", + " try:\n", + " #result_dict[key] = [20 if type =='title' else 1+(factor*value //2), is_about_term(sen_has_gard, defin), is_about_term(input_text.lower(), defin), sen_has_gard]\n", + " result_dict[key] = [normalize(20 if type =='title' else 1+(factor*value //2)), is_about_term(input_text.lower(), defin)]\n", + "\n", + " except:\n", + " try:\n", + " #result_dict[key] = [20 if type =='title' else 1+ (factor*value //2), is_about_term(sen_has_gard[:2000], defin[:2000]), is_about_term(input_text.lower()[:2000], defin[:2000]), sen_has_gard]\n", + " result_dict[key] = [normalize(20 if type =='title' else 1+ (factor*value //2)), is_about_term(input_text.lower()[:2000], defin[:2000])]\n", + " except:\n", + " try:\n", + " result_dict[key] = [normalize(20 if type =='title' else 1+ (factor*value //2)) , is_about_term(input_text.lower()[:1500], defin[:1500])]\n", + " #result_dict[key] = [20 if type =='title' else 1+ (factor*value //2) , is_about_term(sen_has_gard[:1500], defin[:1500]), is_about_term(input_text.lower()[:1500], defin[:1500]), sen_has_gard]\n", + "\n", + " except:\n", + " #result_dict[key] = [20 if type =='title' else 1+ (factor*value //2) , is_about_term(sen_has_gard[:1000], defin[:1000]), is_about_term(input_text.lower()[:500], defin[:1000]), sen_has_gard]\n", + " result_dict[key] = [normalize(20 if type =='title' else 1+ (factor*value //2)) , is_about_term(input_text.lower()[:500], defin[:1000])]\n", + "\n", + "\n", + " return result_dict\n", + "\n", + "\n", + "def update_dictionary(dictionary):\n", + " updated_dict = {}\n", + " for key, value in dictionary.items():\n", + " new_key = Gard[Gard['GardName'] == key]['GardId'].tolist()\n", + " if new_key:\n", + " new_key = new_key[0].replace('\"', '')\n", + " updated_dict[(key,new_key)] = value\n", + " else:\n", + " updated_dict[key] = value\n", + " return updated_dict\n", + "\n", + "def grad_id(title_, Public_health_relevance_statement, abstract_):\n", + " if not isinstance(title_, str) and not isinstance(Public_health_relevance_statement, str) and not isinstance(abstract_, str):\n", + " return '' # Return default values when no string input is provided\n", + " if title_ and isinstance(title_, str):\n", + " name = get_gard_title_stem_exact(title_)\n", + " if name:\n", + " if abstract_ and isinstance(abstract_, str):\n", + " return normalize_combined_dictionary(abstract_,title_,name,{},{},{},1,1,'title')\n", + " else: return normalize_combined_dictionary(title_,title_,name,{},{},{},1,1,'title')\n", + "\n", + " if Public_health_relevance_statement and isinstance(Public_health_relevance_statement, str):\n", + " A, B, C,D = check_sen(Public_health_relevance_statement)\n", + " name1 = get_gard_abstract_stem_exact(A)\n", + " name2 = get_gard_abstract_stem_exact(B)\n", + " name3 = get_gard_abstract_stem_exact(C)\n", + " name4 = get_gard_abstract_stem_exact(D)\n", + " name=normalize_combined_dictionary(Public_health_relevance_statement,title_,name1,name2,name3,name4,0.7,0.9,'statement')\n", + " if name and (name !={}): return name\n", + "\n", + " if abstract_ and isinstance(abstract_, str):\n", + " A, B, C , D = check_sen(abstract_)\n", + " name1 = get_gard_abstract_stem_exact(A)\n", + " name2 = get_gard_abstract_stem_exact(B)\n", + " name3 = get_gard_abstract_stem_exact(C)\n", + " name4 = get_gard_abstract_stem_exact(D)\n", + " name=normalize_combined_dictionary(abstract_,title_,name1,name2,name3,name4,0,0.7,'abstract')\n", + " if name and (name !={}): return name\n" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "73M4aaHkjBOw", + "outputId": "cabcd500-34cf-49f2-b50a-833c96514957" + }, + "outputs": [ + { + "data": { + "text/plain": [ + "{}" + ] + }, + "execution_count": 37, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "abstract_='''\n", + " Inhibition studies can establish mechanisms of drug action and help to design drugs useful for prevention and treatment. Comparison of isozymes from alcoholics with those from normal individuals may also help in interpreting other research on alcoholism (e.g., genetic factors in alcoholism, fetal alcohol syndrome and alcoholism in women).\n", + "'''\n", + "A, B, C , D = check_sen(abstract_)\n", + "name1 = get_gard_abstract_stem_exact(A)\n", + "name2 = get_gard_abstract_stem_exact(B)\n", + "name3 = get_gard_abstract_stem_exact(C)\n", + "name4 = get_gard_abstract_stem_exact(D)\n", + "normalize_combined_dictionary(abstract_,abstract_,name1,name2,name3,name4,0,0.7,'abstract')" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 35 + }, + "id": "5y0c-s0uviQa", + "outputId": "82ca0be1-78e8-421e-83b2-d05a4752d009" + }, + "outputs": [ + { + "data": { + "application/vnd.google.colaboratory.intrinsic+json": { + "type": "string" + }, + "text/plain": [ + "'Fetal-Derived Exosome Cargos in Maternal Blood to Predict Fetal Alcohol Syndrome'" + ] + }, + "execution_count": 89, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "Abstract1['project_title'][98]# Gard_name_'][98] #Abstract1 0 5 12 14 22" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 321 + }, + "id": "aAqwbONgRrBH", + "outputId": "5dad5e76-a8ff-40a6-de74-206e8c7b9e70" + }, + "outputs": [ + { + "output_type": "error", + "ename": "TypeError", + "evalue": "expected string or bytes-like object", + "traceback": [ + "\u001b[0;31m---------------------------------------------------------------------------\u001b[0m", + "\u001b[0;31mTypeError\u001b[0m Traceback (most recent call last)", + "\u001b[0;32m\u001b[0m in \u001b[0;36m\u001b[0;34m()\u001b[0m\n\u001b[1;32m 1\u001b[0m \u001b[0mAbstract1\u001b[0m\u001b[0;34m=\u001b[0m\u001b[0mAbstract\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;36m10\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0;32m----> 2\u001b[0;31m \u001b[0mAbstract1\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;34m'Gard_name_'\u001b[0m\u001b[0;34m]\u001b[0m \u001b[0;34m=\u001b[0m \u001b[0mAbstract1\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mapply\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0;32mlambda\u001b[0m \u001b[0mx\u001b[0m\u001b[0;34m:\u001b[0m \u001b[0mgrad_id\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mx\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;34m'project_title'\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mx\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;34m'phr_text'\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mx\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;34m'abstract_text'\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m,\u001b[0m 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list_chcek)\u001b[0m\n\u001b[1;32m 16\u001b[0m \u001b[0;32mif\u001b[0m \u001b[0mGard\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0mlist_chcek\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0mi\u001b[0m\u001b[0;34m]\u001b[0m \u001b[0;34m!=\u001b[0m \u001b[0;34m[\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[1;32m 17\u001b[0m \u001b[0;32mfor\u001b[0m \u001b[0mj\u001b[0m \u001b[0;32min\u001b[0m \u001b[0mGard\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0mlist_chcek\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0mi\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0;32m---> 18\u001b[0;31m \u001b[0;32mif\u001b[0m \u001b[0mj\u001b[0m \u001b[0;32min\u001b[0m \u001b[0mtext1\u001b[0m \u001b[0;32mand\u001b[0m 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\u001b[0mout\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0mGard\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;34m'GardName'\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0mi\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;36m0\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m+=\u001b[0m\u001b[0mtext2\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mcount\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mj\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n", + "\u001b[0;32m\u001b[0m in \u001b[0;36mword_matching\u001b[0;34m(text, word)\u001b[0m\n\u001b[1;32m 1\u001b[0m \u001b[0;32mdef\u001b[0m \u001b[0mword_matching\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mtext\u001b[0m\u001b[0;34m,\u001b[0m\u001b[0mword\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0;32m----> 2\u001b[0;31m \u001b[0mnew1\u001b[0m\u001b[0;34m=\u001b[0m\u001b[0msplit_sentence\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mtext\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0m\u001b[1;32m 3\u001b[0m \u001b[0;32mfor\u001b[0m \u001b[0mi\u001b[0m \u001b[0;32min\u001b[0m \u001b[0msplit_sentence\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mword\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[1;32m 4\u001b[0m \u001b[0;32mif\u001b[0m \u001b[0mi\u001b[0m \u001b[0;32mnot\u001b[0m \u001b[0;32min\u001b[0m \u001b[0mnew1\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[1;32m 5\u001b[0m \u001b[0;32mreturn\u001b[0m \u001b[0;32mFalse\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n", + "\u001b[0;32m\u001b[0m in \u001b[0;36msplit_sentence\u001b[0;34m(sentence)\u001b[0m\n\u001b[1;32m 1\u001b[0m \u001b[0;32mdef\u001b[0m \u001b[0msplit_sentence\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0msentence\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[1;32m 2\u001b[0m \u001b[0;31m# Use regular expression to split words without including punctuation\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0;32m----> 3\u001b[0;31m \u001b[0mwords\u001b[0m \u001b[0;34m=\u001b[0m \u001b[0mre\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mfindall\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0;34mr'\\b\\w+\\b'\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0msentence\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0m\u001b[1;32m 4\u001b[0m \u001b[0;32mreturn\u001b[0m \u001b[0mwords\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[1;32m 5\u001b[0m \u001b[0;32mdef\u001b[0m \u001b[0mword_matching\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mtext\u001b[0m\u001b[0;34m,\u001b[0m\u001b[0mword\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n", + "\u001b[0;32m/usr/lib/python3.10/re.py\u001b[0m in \u001b[0;36mfindall\u001b[0;34m(pattern, string, flags)\u001b[0m\n\u001b[1;32m 238\u001b[0m \u001b[0;34m\u001b[0m\u001b[0m\n\u001b[1;32m 239\u001b[0m Empty matches are included in the result.\"\"\"\n\u001b[0;32m--> 240\u001b[0;31m \u001b[0;32mreturn\u001b[0m \u001b[0m_compile\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mpattern\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mflags\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mfindall\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mstring\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0m\u001b[1;32m 241\u001b[0m \u001b[0;34m\u001b[0m\u001b[0m\n\u001b[1;32m 242\u001b[0m \u001b[0;32mdef\u001b[0m \u001b[0mfinditer\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0mpattern\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mstring\u001b[0m\u001b[0;34m,\u001b[0m \u001b[0mflags\u001b[0m\u001b[0;34m=\u001b[0m\u001b[0;36m0\u001b[0m\u001b[0;34m)\u001b[0m\u001b[0;34m:\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n", + "\u001b[0;31mTypeError\u001b[0m: expected string or bytes-like object" + ] + } + ], + "source": [ + "Abstract1=Abstract[:10]\n", + "Abstract1['Gard_name_'] = Abstract1.apply(lambda x: grad_id(x['project_title'], x['phr_text'], x['abstract_text']), axis=1)" + ] + }, + { + "cell_type": "code", + "source": [ + "import time\n", + "Abstract1=Abstract[10:50]\n", + "import pandas as pd\n", + "# Define the chunk size\n", + "chunk_size = 400\n", + "# Initialize an empty list to store processed chunks\n", + "processed_chunks = []\n", + "\n", + "# Split the dataframe into chunks and process each chunk\n", + "num_chunks = (len(Abstract1) + chunk_size - 1) // chunk_size\n", + "for i in range(num_chunks):\n", + " #if i > 3:\n", + " start_idx = i * chunk_size\n", + " end_idx = min((i + 1) * chunk_size, len(Abstract1))\n", + " chunk = Abstract1.iloc[start_idx:end_idx]\n", + " # Apply the function to the chunk\n", + " start_time = time.time()\n", + " chunk['Gard_name_'] = chunk.apply(lambda x: grad_id(x['project_title'], x['phr_text'], x['abstract_text']), axis=1)\n", + " end_time = time.time()\n", + " # Append the processed chunk to the list\n", + " processed_chunks.append(chunk)\n", + " print('Chunk', i, 'processed in', end_time - start_time, 'seconds')\n", + "\n", + "# Concatenate all processed chunks into a single dataframe\n", + "result_df = pd.concat(processed_chunks, ignore_index=True)" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "noYrve8smwoQ", + "outputId": "c145a8e7-bb1b-4804-8930-d9e885de4766" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "stream", + "name": "stdout", + "text": [ + "Chunk 0 processed in 114.50104880332947 seconds\n" + ] + }, + { + "output_type": "stream", + "name": "stderr", + "text": [ + ":18: SettingWithCopyWarning: \n", + "A value is trying to be set on a copy of a slice from a DataFrame.\n", + "Try using .loc[row_indexer,col_indexer] = value instead\n", + "\n", + "See the caveats in the documentation: https://pandas.pydata.org/pandas-docs/stable/user_guide/indexing.html#returning-a-view-versus-a-copy\n", + " chunk['Gard_name_'] = chunk.apply(lambda x: grad_id(x['project_title'], x['phr_text'], x['abstract_text']), axis=1)\n" + ] + } + ] + }, + { + "cell_type": "code", + "source": [ + "result_df['Gard_name_'][22]" + ], + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "ADw9JRMXn8Ru", + "outputId": "d38b4133-36e6-4d89-b4dd-a31029cad2e1" + }, + "execution_count": null, + "outputs": [ + { + "output_type": "execute_result", + "data": { + "text/plain": [ + "{'tuberculosis': [0.3562071871080222, 0.64]}" + ] + }, + "metadata": {}, + "execution_count": 28 + } + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 1000 + }, + "id": "wjjFO7b48qnU", + "outputId": "5c9b6ad7-f7ee-4e37-fee9-c4ff93269041" + }, + "outputs": [ + { + "output_type": "execute_result", + "data": { + "text/plain": [ + " abstract_text \\\n", + "0 PROJECT SUMMARY/ABSTRACT:\\nPROJECT 1 – WEE1 in... \n", + "1 SUMMARY - PROJECT 1\\nThe goal of this Center i... \n", + "2 PROJECT SUMMARY\\nThe thematic focus of this Ce... \n", + "3 SUMMARY – ADMINISTRATIVE CORE\\nThe Administrat... \n", + "4 Project Summary\\nReplication stress (RS) is de... \n", + ".. ... \n", + "195 Project Summary/Abstract\\nDental caries is one... \n", + "196 PROJECT SUMMARY\\nMisfolding and aggregation of... \n", + "197 1 Particulate matter emitted through incomplet... \n", + "198 PROJECT ABSTRACT / SUMMARY\\nThere is a fundame... \n", + "199 An understanding of the genetic and molecular ... \n", + "\n", + " project_title \\\n", + "0 Targeting WEE1 in uterine serous or p53-mutate... \n", + "1 Structural determinants and pharmacological mo... \n", + "2 Mechanisms underlying cortical local circuit r... \n", + "3 Administrative Core \n", + "4 Combined ATR and P13k inhibition in uterine ca... \n", + ".. ... \n", + "195 Microbiome Analysis of Plaque Samples from a C... \n", + "196 Developing novel nanobody-based biosensors and... \n", + "197 Lung deposition dose of black carbon as a driv... \n", + "198 Risk determination and prognostication for old... \n", + "199 Establishing the role of Dual-Specificity Tyro... \n", + "\n", + " phr_text \\\n", + "0 PROJECT NARRATIVE: PROJECT 1 – WEE1 inhibition... \n", + "1 None \n", + "2 None \n", + "3 None \n", + "4 Project Narrative\\nGenomic alterations associa... \n", + ".. ... \n", + "195 Project Narrative\\nUnderstanding the relations... \n", + "196 NARRATIVE\\nThis proposal will produce a collec... \n", + "197 Successful completion of this study will great... \n", + "198 PROJECT NARRATIVE\\nThe proposed research is re... \n", + "199 Project Narrative\\nThe proposed research is re... \n", + "\n", + " project_detail_url \\\n", + "0 https://reporter.nih.gov/project-details/10769256 \n", + "1 https://reporter.nih.gov/project-details/10862385 \n", + "2 https://reporter.nih.gov/project-details/10862387 \n", + "3 https://reporter.nih.gov/project-details/10862384 \n", + "4 https://reporter.nih.gov/project-details/10769257 \n", + ".. ... \n", + "195 https://reporter.nih.gov/project-details/10865429 \n", + "196 https://reporter.nih.gov/project-details/10869683 \n", + "197 https://reporter.nih.gov/project-details/10871465 \n", + "198 https://reporter.nih.gov/project-details/10875030 \n", + "199 https://reporter.nih.gov/project-details/10879950 \n", + "\n", + " pref_terms appl_id \\\n", + "0 Accounting;Area;Ascites;Biological Assay;Biolo... 10769256 \n", + "1 Amino Acids;Attention;Behavioral;Binding;Bioch... 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"197 1R21HL173388-01 None NaN NaN \n", + "198 1R01AG082642-01A1 None NaN NaN \n", + "199 1R21NS137191-01 down syndrome 20.0 0.93 \n", + "\n", + " SEM_SIM (whole_abstract) \\\n", + "0 NaN \n", + "1 NaN \n", + "2 NaN \n", + "3 NaN \n", + "4 NaN \n", + ".. ... \n", + "195 NaN \n", + "196 0.87 \n", + "197 NaN \n", + "198 NaN \n", + "199 0.95 \n", + "\n", + " only_sen \\\n", + "0 None \n", + "1 None \n", + "2 None \n", + "3 None \n", + "4 None \n", + ".. ... \n", + "195 None \n", + "196 promotes neurodegeneration in huntington’s\\ndi... \n", + "197 None \n", + "198 None \n", + "199 an understanding of the genetic and molecular ... \n", + "\n", + " terms \\\n", + "0 [accounting, area, ascites, biological assay, ... \n", + "1 [amino acids, attention, behavioral, binding, ... \n", + "2 [arhgef5 gene, acute, adolescent, affect, alte... \n", + "3 [awareness, collaborations, communication, com... \n", + "4 [arid1a gene, atm deficient, atr gene, abbrevi... \n", + ".. ... \n", + "195 [address, affect, age, alaska native, archives... \n", + "196 [animals, antibodies, antigen targeting, bindi... \n", + "197 [affect, age, air, algorithms, american, area,... \n", + "198 [adult, affect, age, aging, anxiety, behaviora... \n", + "199 [adolescent, age, alleles, behavior, biologica... \n", + "\n", + " Synonyms IS_MAPPED_TO_TERM \n", + "0 None None \n", + "1 None None \n", + "2 None None \n", + "3 None None \n", + "4 None None \n", + ".. ... ... \n", + "195 None None \n", + "196 [chorea huntington, huntington disease, huntin... 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abstract_textproject_titlephr_textproject_detail_urlpref_termsappl_idproject_numGardNameCONF_SCORESEM_SIM (only_sen)SEM_SIM (whole_abstract)only_sentermsSynonymsIS_MAPPED_TO_TERM
0PROJECT SUMMARY/ABSTRACT:\\nPROJECT 1 – WEE1 in...Targeting WEE1 in uterine serous or p53-mutate...PROJECT NARRATIVE: PROJECT 1 – WEE1 inhibition...https://reporter.nih.gov/project-details/10769256Accounting;Area;Ascites;Biological Assay;Biolo...107692561P01CA269021-01A1NoneNaNNaNNaNNone[accounting, area, ascites, biological assay, ...NoneNone
1SUMMARY - PROJECT 1\\nThe goal of this Center i...Structural determinants and pharmacological mo...Nonehttps://reporter.nih.gov/project-details/10862385Amino Acids;Attention;Behavioral;Binding;Bioch...108623851P50MH132775-01A1NoneNaNNaNNaNNone[amino acids, attention, behavioral, binding, ...NoneNone
2PROJECT SUMMARY\\nThe thematic focus of this Ce...Mechanisms underlying cortical local circuit r...Nonehttps://reporter.nih.gov/project-details/10862387ARHGEF5 gene;Acute;Adolescent;Affect;Alternati...108623871P50MH132775-01A1NoneNaNNaNNaNNone[arhgef5 gene, acute, adolescent, affect, alte...NoneNone
3SUMMARY – ADMINISTRATIVE CORE\\nThe Administrat...Administrative CoreNonehttps://reporter.nih.gov/project-details/10862384Awareness;Collaborations;Communication;Communi...108623841P50MH132775-01A1NoneNaNNaNNaNNone[awareness, collaborations, communication, com...NoneNone
4Project Summary\\nReplication stress (RS) is de...Combined ATR and P13k inhibition in uterine ca...Project Narrative\\nGenomic alterations associa...https://reporter.nih.gov/project-details/10769257ARID1A gene;ATM deficient;ATR gene;Abbreviatio...107692571P01CA269021-01A1NoneNaNNaNNaNNone[arid1a gene, atm deficient, atr gene, abbrevi...NoneNone
................................................
195Project Summary/Abstract\\nDental caries is one...Microbiome Analysis of Plaque Samples from a C...Project Narrative\\nUnderstanding the relations...https://reporter.nih.gov/project-details/10865429Address;Affect;Age;Alaska Native;Archives;Beha...108654291R03DE033779-01NoneNaNNaNNaNNone[address, affect, age, alaska native, archives...NoneNone
196PROJECT SUMMARY\\nMisfolding and aggregation of...Developing novel nanobody-based biosensors and...NARRATIVE\\nThis proposal will produce a collec...https://reporter.nih.gov/project-details/10869683Animals;Antibodies;Antigen Targeting;Binding;B...108696831R21NS137242-01huntington disease20.00.990.87promotes neurodegeneration in huntington’s\\ndi...[animals, antibodies, antigen targeting, bindi...[chorea huntington, huntington disease, huntin...True
1971 Particulate matter emitted through incomplet...Lung deposition dose of black carbon as a driv...Successful completion of this study will great...https://reporter.nih.gov/project-details/10871465Affect;Age;Air;Algorithms;American;Area;Artifi...108714651R21HL173388-01NoneNaNNaNNaNNone[affect, age, air, algorithms, american, area,...NoneNone
198PROJECT ABSTRACT / SUMMARY\\nThere is a fundame...Risk determination and prognostication for old...PROJECT NARRATIVE\\nThe proposed research is re...https://reporter.nih.gov/project-details/10875030Adult;Affect;Age;Aging;Anxiety;Behavioral;Cali...108750301R01AG082642-01A1NoneNaNNaNNaNNone[adult, affect, age, aging, anxiety, behaviora...NoneNone
199An understanding of the genetic and molecular ...Establishing the role of Dual-Specificity Tyro...Project Narrative\\nThe proposed research is re...https://reporter.nih.gov/project-details/10879950Adolescent;Age;Alleles;Behavior;Biological Ass...108799501R21NS137191-01down syndrome20.00.930.95an understanding of the genetic and molecular ...[adolescent, age, alleles, behavior, biologica...[21 trisomy, syndrome down, trisomy 21, down s...False
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The Program\\nprovides funding for 5-7 Centers as well as additional financial support for collaborative and pilot/feasibility\\nprojects, resource and reagent development, translational projects, and/or early-stage investigator projects\\nprovided through the Infrastructure and Opportunity Fund (IOF). One of the Centers funded through the CCHI\\nU19 mechanism is selected to establish an Infrastructure and Opportunity Fund Management Core (IOFMC),\\nwhich bears the responsibility of managing and distributing the IOF. Working with the NIH Program Officer and\\nthe CCHI Steering Committee, the major goal of the UAB IOFMC will be to establish an administrative structure\\nthat will manage the supplemental projects from the solicitation of applications, through pre- and post-award, to\\naward close-out and reporting The UAB IOFMC will: i) coordinate the IOF project solicitation, application and\\nselection process; ii) establish subcontracts to distribute IOF supplemental awards to recipients at other\\ninstitutions, usually another CCHI Center, but often a collaborating institution; iii) provide administrative, reporting\\nand fiscal oversight of the IOF awards to ensure that the recipient of the award and the institution in which they\\nwork are in compliance with all applicable NIH and federal regulations and that charges to the subaward are\\nreasonable, allocable and allowable; iv) support the NIH Program Officer and CCHI Steering Committee in the\\nexecution and advancement of programmatic decisions; and v) serve as the liaison between the IOF awardees,\\nCCHI Steering Committee and the NIH. The IOFMC will also develop and manage a website for CCHI activities.\\nCompletion of these objectives by the UAB IOFMC will allow the NIH to successfully leverage the existing and\\nfuture intellectual, infrastructure and unique reagents/samples available within the CCHI program to advance the\\noverall scientific goals of the CCHI.\",\n \"Oxylipins comprise a rapidly growing in numbers class of lipid mediators derived from polyunsaturated fatty\\nacids such as arachidonic acid, eicosapentaenoic acid, docosahexaenoic acid, docosapentaenoic acid, linoleic\\nacid, etc. Collectively, oxylipins have been implicated in the regulation of a vast variety of physiological\\nresponses from pain and inflammation to blood clotting and gastric acid secretion. As a result of important\\nphysiological roles played by oxylipin mediators, their metabolic interconversions received an intense scrutiny.\\nTo date, these efforts allowed to identify the main metabolic pathways responsible for the biosynthesis of major\\nclasses of oxylipins. On the other hand, their catabolic interconversions, i.e. subsets of biochemical reactions\\nwhich frequently alter their biological activities, still remain rather poorly understood. Recently, we\\ndemonstrated that human microsomal dehydrogenase reductase 9 (DHRS9) exhibits a robust activity oxidizing\\nhydroxyl groups of many important oxylipins such as pro-inflammatory mediator leukotriene B4 or pro-resolving\\nmediators such as resolvin D1 and lipoxin A4, for example. These findings strongly suggest that DHRS9\\nactivity can alter the tissue balance between pro-inflammatory and pro-resolving mediators and, thereby, affect\\nthe progression of inflammation as well as the resolution of inflammation. In agreement with this hypothesis,\\nour preliminary data show that lungs of na\\u00efve, untreated DHRS9 deficient mice display all characteristic signs\\nof inflammation, which are further exacerbated by lipopolysaccharide treatment. Together, these observations\\nsuggest that DHRS9 deficiency promotes lung inflammation and makes the lungs more susceptible to injury.\\nThus, experiments outlined in this application have been designed to test our major working hypothesis that\\nDHRS9 is a highly potent oxylipin dehydrogenase with broad substrate specificity which plays a critically\\nimportant role in body\\u2019s ability to control inflammation. This hypothesis will be explored through the following\\nSpecific Aims: 1) to elucidate the molecular basis underlying the broad substrate specificity of DHRS9 in order\\nto define the spectrum of its naturally occurring substrates and 2) to establish the physiological role of DHRS9\\nin controlling lung inflammation and injury. The results of these studies will define the pathways of oxylipin\\nmetabolism controlled by DHRS9 and will lay the foundation for development of better informed therapeutic\\napproaches targeting lung inflammation.\",\n \"Project Abstract\\nNOX2-derived oxidative stress produced by T cells contributes to the development of maternal\\nsyndrome in the Dahl salt-sensitive rat. Preeclampsia (PE) is a pregnancy-specific disorder that is\\ncharacterized by hypertension and proteinuria (maternal syndrome) developing after the 20th week of gestation.\\nPE is the leading cause of maternal morbidity and mortality in the United States, affecting about 5-7% of\\npregnancies. Furthermore, women with preexisting hypertension or chronic kidney disease have an increased\\nrisk for developing PE. With rates of PE rising in the United States, the exact mechanism(s) responsible for the\\npathogenesis of the disease remain undetermined. The current notion of the pathogenesis of PE is thought to\\nbe a two-step process: 1) improper placentation and remodeling of the spiral arteries and 2) development of\\nmaternal syndrome. Current animal models require either a surgical or pharmacologic intervention to develop\\nPE-like phenotypes; however, these models are not capable of investigating the first step in the disease process.\\nOur preliminary data demonstrate that the Dahl salt-sensitive (SS) rat is just such an animal model to help\\ninvestigate mechanisms of PE since it spontaneously develops PE while remaining on a low salt (0.4% NaCl)\\ndiet. The present studies will test the central hypothesis that maternal syndrome in Dahl SS rats is an outcome\\nof improper placentation leading to the infiltration of T cells into kidney and placental tissues causing subsequent\\nrelease of reactive oxygen species (ROS) that contributes to endothelial dysfunction and the development\\nhypertension and renal damage. To test this hypothesis, three specific aims are proposed. AIM 1 will first test\\nthe hypothesis that T cell derived ROS (NOX2-derived) causes maternal syndrome in Dahl SS rats utilizing a\\nnovel splenocyte transfer approach. AIM 2 will demonstrate that T-cell derived ROS results in endothelial\\ndysfunction that develops in maternal syndrome. Interestingly, this maternal syndrome phenotype occurs in a\\ndivergent fashion with about 50% of SS rats developing maternal and the other half are protected. AIM 3 will\\ninvestigate the renal dysfunction that occurs during PE and the increased risk of developing chronic kidney\\ndisease leading to increased mortality in Dahl SS rats. This maternal syndrome phenotype is consistent with\\nwhat is observed in clinical settings, and this model provides a unique opportunity to study the whole disease\\nprocess of PE. Completion of the studies in this proposal will establish the interaction between T cell-derived\\nROS and endothelial function in PE to better understand the underlying mechanisms of PE.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_title\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 199,\n \"samples\": [\n \"Novel mechanisms of confined migration of GBM cells\",\n \"Endothelial cell-based therapy for pulmonary vascular disease using induced pluripotent stem cells\",\n \"Molecular basis of complement anaphylatoxin receptor activation, regulation, selectivity and signaling bias\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"phr_text\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 173,\n \"samples\": [\n \"The Academy of Behavioral Medicine Research (ABMR) annual meetings supported by this R13\\nwill provide interactive and engaging forums for established behavioral medicine scientists and\\nthought leaders from diverse scientific disciplines to exchange, discuss, and debate ideas and\\nthe latest research advances to promote healthy aging and reduce chronic disease disparities.\\nTopics will include integrative, cutting-edge team science approaches to research as well as\\ndissemination and translational strategies for bringing science to the public and policymakers.\\nThis R13 also will support ABMR\\u2019s Early-Stage Investigator (ESI) program, bringing a new\\ncohort of diverse ESIs, a majority from groups underrepresented in science and medicine, to the\\nABMR meeting each year to participate in leadership and career development training,\\nnetworking, mentoring activities, as well as the full conference program.\",\n \"PROJECT NARRATIVE\\nThe proposed research is relevant to public health because brain injuries, such as occur in stroke, leave many\\npeople with chronic motor disabilities, requiring long-term medical and institutional care. This project seeks to\\ndevelop a greater understanding of the plasticity process that occurs after brain injury, specifically in the\\ncompensatory functional connections that form in uninjured regions of the brain. Information gained from this\\nproject will inform the development of new therapies, such as rehabilitative approaches designed to maximize\\nfunctional recovery after brain injury.\",\n \"PROJECT NARRATIVE\\nThe Duke University/University of North Carolina (UNC) Advancing Diversity in Aging Research Program is an\\ninnovative research training program designed to offer training and support to undergraduate students from\\ndiverse backgrounds at Duke University and UNC-Chapel Hill to pursue careers in aging and resilience research.\\nBy combining the unique strengths of both institutions, this program will sow the seeds for the development of a\\ncadre of diverse scientists with expertise in aging research and promote a strong community of researchers who\\nare equipped to optimize reserve and resilience among older adults.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_detail_url\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 200,\n \"samples\": [\n \"https://reporter.nih.gov/project-details/10824856\",\n \"https://reporter.nih.gov/project-details/10881092\",\n \"https://reporter.nih.gov/project-details/10995459\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"pref_terms\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 199,\n \"samples\": [\n \"Acceleration;Actins;Affect;Automobile Driving;Biological Assay;Biological Process;Biomechanics;Brain;Cell Communication;Cell Line;Cell membrane;Cells;Cellular biology;Charge;Communities;Confined Spaces;Coupled;Coupling;Cytoskeletal Modeling;Cytoskeleton;Data;Device Designs;Devices;Disease;Endocytosis;Endocytosis Inhibition;Endocytosis Pathway;F-Actin;Fluorescent Probes;Genetic Transcription;Glioblastoma;Glioma;Infiltration;Invaded;Link;Lipids;Malignant - descriptor;Malignant Neoplasms;Malignant neoplasm of brain;Measures;Mediating;Mediation;Membrane;Membrane Proteins;Mesenchymal;Molecular;Monitor;Patients;Process;Proliferating;Property;Reagent;Recurrence;Regulation;Research;Resolution;Role;Series;Speed;Surface;Testing;Time;Transplantation;Tumor Cell Invasion;anti-cancer research;brain parenchyma;cancer cell;cell motility;constriction;efficacy evaluation;efficacy study;high reward;high risk;in vivo;inhibitor;innovation;insight;live cell imaging;microdevice;migration;novel;novel therapeutics;release of sequestered calcium ion into cytoplasm;stem cells;translational potential;transplant model\",\n \"Acids;Acute Lung Injury;Affect;Agreement;Anabolism;Anti-Inflammatory Agents;Arachidonic Acids;Binding;Biochemical Reaction;Biological;Blood coagulation;Catabolism;Cells;Characteristics;Complex;Data;Development;Disease;Disease Progression;Docosahexaenoic Acids;Dryness;Dyes;Edema;Eicosanoids;Eicosapentaenoic Acid;Environment;Enzymatic Biochemistry;Enzyme-Linked Immunosorbent Assay;Enzymes;Equilibrium;Evans blue stain;Exhibits;Extravasation;Family;Flow Cytometry;Foundations;Gastric Acid;Goals;Human;Hydroxyeicosatetraenoic Acids;Hydroxylation;Immune;Immune response;Immunoassay;Immunology;Inflammation;Inflammation Mediators;Inflammatory;Injury;Kinetics;Knowledge;Leukotriene B4;Link;Linoleic Acids;Lipopolysaccharides;Lipoxins;Lung;Mass Fragmentography;Mass Spectrum Analysis;Mediating;Mediator;Metabolic;Metabolic Pathway;Metabolism;Microsomes;Modeling;Molecular;Mus;Nature;Neutrophil Infiltration;Organ;Oxidoreductase;Pain;Pathology;Pathway interactions;Permeability;Physiological;Play;Polyunsaturated Fatty Acids;Population;Positioning Attribute;Predisposition;Production;Prostaglandins;Proteins;Publishing;Pulmonary Inflammation;Reaction;Regulation;Research;Resolution;Role;Scheme;Site-Directed Mutagenesis;Specificity;Stimulus;Structure;Structure of parenchyma of lung;Substrate Specificity;Testing;Therapeutic;Tissues;Transgenic Model;Weight;chemokine;cytokine;design;dietary;docosapentaenoic acid;experimental study;hydroxyl group;influenzavirus;lipid mediator;lipidomics;lipoxin A4;lung injury;member;novel;novel strategies;oxidation;pharmacologic;response;structural biology;three dimensional structure\",\n \"Address;Agonist;Alzheimer's Disease;Anaphylatoxins;Anaphylaxis;Arginine;Asthma;Autoimmune Diseases;Automobile Driving;Binding;Biochemical;Biological Assay;Biology;C3AR1 gene;C5AR2 gene;Calcium;Communities;Complement;Complement 3a;Complement 5a;Complement Activation;Complement Receptor;Complex;Couples;Coupling;Cryoelectron Microscopy;Data;Development;Disease;Drug Design;Family;Functional disorder;Future;G-Protein-Coupled Receptors;GTP-Binding Proteins;Goals;Heterotrimeric GTP-Binding Proteins;Human;Immune response;Immune system;Inflammation;Innate Immune System;Investigation;Knowledge;Lead;Length;Ligands;Link;Lupus;MAPK3 gene;Malignant Neoplasms;Mediating;Microbe;Modification;Molecular;Molecular Conformation;Multiple Sclerosis;Mus;N-terminal;Nerve Degeneration;Neurodegenerative Disorders;Organism;Parkinson Disease;Pathway interactions;Pattern;Peptide Receptor;Peptides;Pharmacodynamics;Phosphotransferases;Physiological;Physiology;Plasma Proteins;Positioning Attribute;Process;Production;Receptor Activation;Receptor Signaling;Regulation;Regulatory Pathway;Research;Research Proposals;Resolution;Rheumatoid Arthritis;Role;Sepsis;Series;Signal Transduction;Signaling Protein;Structure;System;Techniques;Therapeutic;Therapeutic Effect;Therapeutic Intervention;Transducers;Work;antagonist;beta-arrestin;cell injury;complement system;cytokine;drug discovery;immunoregulation;insight;novel;pathogen;rational design;receptor;receptor binding;receptor function;recruit;synthetic peptide;targeted treatment;therapeutic development;tool;tool development\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"appl_id\",\n \"properties\": {\n \"dtype\": \"number\",\n \"std\": 47063,\n \"min\": 10768263,\n \"max\": 11043709,\n \"num_unique_values\": 200,\n \"samples\": [\n 10824856,\n 10881092,\n 10995459\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_num\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 168,\n \"samples\": [\n \"1R21DE033875-01\",\n \"1R43AI174490-01A1\",\n \"1R21AG086883-01\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"GardName\",\n \"properties\": {\n \"dtype\": \"category\",\n \"num_unique_values\": 27,\n \"samples\": [\n \"pachyonychia congenita\",\n \"neonatal hypoxic and ischemic brain injury\",\n \"fragile x syndrome\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"CONF_SCORE\",\n \"properties\": {\n \"dtype\": \"number\",\n \"std\": 7.720430170450784,\n \"min\": 1.0,\n \"max\": 21.0,\n \"num_unique_values\": 10,\n \"samples\": [\n 6.0,\n 2.0,\n 20.0\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"SEM_SIM (only_sen)\",\n \"properties\": {\n \"dtype\": \"number\",\n \"std\": 0.2547557736375776,\n \"min\": 0.05,\n \"max\": 0.99,\n \"num_unique_values\": 22,\n \"samples\": [\n 0.8,\n 0.95,\n 0.93\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"SEM_SIM (whole_abstract)\",\n \"properties\": {\n \"dtype\": \"number\",\n \"std\": 0.27450582029922654,\n \"min\": 0.08,\n \"max\": 0.96,\n \"num_unique_values\": 26,\n \"samples\": [\n 0.93,\n 0.81,\n 0.79\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"only_sen\",\n \"properties\": {\n \"dtype\": \"category\",\n \"num_unique_values\": 35,\n \"samples\": [\n \"project summary\\nthere is an urgent need for the development of new approaches to treat patients suffering from cystic fibrosis\\n(cf).\",\n \"we will use viral tools (aavretro and rabies) to determine the\\nintermediate targets of adcn.lat neurons (hypothesized to be linked by ventral tegmental area and substantia\\nnigra) and single nuclei rna.sequencing to identify changes in transcripts of adcn.lat neurons in obese mice.\",\n \"cerebellar hypoplasia is a prominent feature of foxp1 syndrome, but the cellular and molecular mechanisms\\ndriving this anomaly are unknown.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"terms\",\n \"properties\": {\n \"dtype\": \"object\",\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Synonyms\",\n \"properties\": {\n \"dtype\": \"object\",\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"IS_MAPPED_TO_TERM\",\n \"properties\": {\n \"dtype\": \"category\",\n \"num_unique_values\": 2,\n \"samples\": [\n true,\n false\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n }\n ]\n}" + } + }, + "metadata": {}, + "execution_count": 12 + } + ], + "source": [ + "import time\n", + "Abstract1=Abstract #[8000:]\n", + "import pandas as pd\n", + "# Define the chunk size\n", + "chunk_size = 400\n", + "# Initialize an empty list to store processed chunks\n", + "processed_chunks = []\n", + "\n", + "# Split the dataframe into chunks and process each chunk\n", + "num_chunks = (len(Abstract1) + chunk_size - 1) // chunk_size\n", + "for i in range(num_chunks):\n", + " #if i > 3:\n", + " start_idx = i * chunk_size\n", + " end_idx = min((i + 1) * chunk_size, len(Abstract1))\n", + " chunk = Abstract1.iloc[start_idx:end_idx]\n", + " # Apply the function to the chunk\n", + " start_time = time.time()\n", + " chunk['Gard_name_'] = chunk.apply(lambda x: grad_id(x['project_title'], x['phr_text'], x['abstract_text']), axis=1)\n", + " end_time = time.time()\n", + " # Append the processed chunk to the list\n", + " processed_chunks.append(chunk)\n", + " print('Chunk', i, 'processed in', end_time - start_time, 'seconds')\n", + "\n", + "# Concatenate all processed chunks into a single dataframe\n", + "result_df = pd.concat(processed_chunks, ignore_index=True)\n", + "\n", + "\n", + "####################################################################################################\n", + "\n", + "\n", + "df =result_df #\n", + "# Initialize an empty list to store new rows\n", + "new_rows = []\n", + "# Iterate over each row of the DataFrame\n", + "for index, row in df.iterrows():\n", + " if isinstance(row['Gard_name_'], dict):\n", + " dictionary = row['Gard_name_']\n", + " for key, value_list in dictionary.items():\n", + " #for value in value_list:\n", + " new_row = row.copy()\n", + " new_row['GardName'] = key\n", + " new_row['CONF_SCORE'], new_row['SEM_SIM (only_sen)'], new_row['SEM_SIM (whole_abstract)'], new_row['only_sen'] = value_list\n", + " new_rows.append(new_row)\n", + " else:\n", + " # Create a new row with missing value for 'B'\n", + " new_row = row.copy()\n", + " new_row['GardName'] = None\n", + " new_row['CONF_SCORE'], new_row['SEM_SIM (only_sen)'], new_row['SEM_SIM (whole_abstract)'], new_row['only_sen'] = None,None,None,None\n", + " new_rows.append(new_row)\n", + "# Create a new DataFrame from the list of new rows\n", + "new_df = pd.DataFrame(new_rows)\n", + "# Drop the original 'B' column\n", + "new_df.drop('Gard_name_', axis=1, inplace=True)\n", + "\n", + "new_df['terms']=new_df['pref_terms'].apply(lambda x: [term.lower() for term in x.split(';')] if isinstance(x, str) else [])\n", + "def get_syn(x):\n", + " if isinstance(x, str):#and isinstance(x, list) and len(x) > 0:\n", + " return Gard['Synonyms_sw_bow'][Gard['GardName'] == x].values[0]+ Gard['Synonyms_sw_stem_bow'][Gard['GardName'] == x].values[0]\n", + "new_df['Synonyms'] = new_df['GardName'].apply(lambda x: get_syn(x))\n", + "def check_common(a,b,c):\n", + " if isinstance(c, str):\n", + " for i in a:\n", + " if i.lower() in b:\n", + " return True\n", + " return False\n", + " return None\n", + "new_df['IS_MAPPED_TO_TERM'] = new_df.apply(lambda x: check_common(x['terms'],x['Synonyms'],x['GardName']) ,axis=1 )\n", + "Output_4=new_df\n", + "Output_4" + ] + }, + { + "cell_type": "code", + "source": [ + "Output_4.to_csv('Output_4.csv', index=False)" + ], + "metadata": { + "id": "vMIfuPjWoGo2" + }, + "execution_count": null, + "outputs": [] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 964 + }, + "id": "VWFhsHIk7wRb", + "outputId": "75c51ce3-4e85-44ab-fb85-f4d8c4e7a91a" + }, + "outputs": [ + { + "data": { + "application/vnd.google.colaboratory.intrinsic+json": { + "summary": "{\n \"name\": \"new_df\",\n \"rows\": 1035,\n \"fields\": [\n {\n \"column\": \"abstract_text\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 980,\n \"samples\": [\n \"ABSTRACT\\nAdolescence is a time of substantial development attributed to the maturation of brain circuits that underlie the\\nacquisition of new cognitive, emotional, and social skills. It is also a time of maximum vulnerability for mental\\ndisorders. In the past decade, the incidence of anxiety, depression, and suicide increased by ~60% in\\nadolescents, remarkably more in females than in males. The social isolation during the COVID-19 pandemic\\nadded to the severity of the national and international statistics. To fully address the current youth mental\\nhealth crisis, we need to understand how and why the dramatic reorganization of the adolescent brain\\ncontributes to the increased vulnerability to mental disorders. The studies proposed here rest on the\\nassumption that the remodeling of the reward circuits of the brain creates the shared foundation of cognitive,\\naffective, and social maturation during adolescence. Our multifaceted project addresses foundational gaps in\\nour knowledge on how reward-driven motivational states inform adolescent behaviors such as risk-taking,\\npleasure-seeking, impulsivity, and a range of emotional responses to challenges of the social environment. We\\ndesigned a within-subject, longitudinal study that spans the 2.5 - 3-year duration of adolescence in non-human\\nprimates. During this period, we will obtain repeated samplings of neurophysiological data recorded from the\\namygdala and orbitofrontal cortex in the context of the same behavioral tasks. In parallel, we will longitudinally\\nmonitor morphometric and microstructural changes in the gray and white matter of the brain through serial MRI\\nscans, complemented by physical and hormonal measures of pubertal maturation. The three specific aims\\naddress the neural basis of three different aspects of reward processing in the subcircuit of the amygdala and\\norbitofrontal cortex. First, we will use a delay discounting task to determine the cellular and circuit level\\nchanges that underlie the increasing tolerance (or lack thereof) for delayed rewards. Second, we use a social\\nreward-allocation task to test the neural underpinning of social reward processing in a self-oriented and an\\nother-oriented social frame of reference. Finally, we will determine where and how social status is processed in\\nthe adolescent brain. Understanding social status relies on the ability to form abstract representations and is\\nalso a prerequisite for the successful integration of the individual into a hierarchical adult social group. The\\nteam, with combined expertise in human and non-human primate social behavior, neurophysiology,\\nneuroimaging, and endocrinology, will apply conceptually and technically innovative approaches to generate\\nunique and translational data, at both cellular and circuit levels, that account for the emerging cognitive,\\naffective, and social skills acquired during adolescence.\",\n \"SUMMARY\\nThe proposed multi-disciplinary Program Project Grant (PPG) will utilize interdisciplinary expertise, key\\nestablished resources, cutting-edge technologies, and extensive in vivo and human studies to bypass\\nsubstantial roadblocks in our understanding, management, and treatment of lupus nephritis (LN). Core C will\\nleverage already established extensive resources, specialized personnel, infrastructure, and expertise to\\naddress effectively and efficiently sample processing, data generation, ingestion, and integration, major\\nbottlenecks in spatial/single cell profiling. Core C will prioritize data provenance and best practices,\\nascertaining that all activities adhere to the FAIR principles across the data life cycle. Core C will ensure\\nstreamlined data generation, acquisition, quality control, management, and provenance across the PPG,\\nachieved through 3 distinct aims: the generation of production-grade highly automated single cell and spatial\\ntissue profiling data (Aim 1), the establishment of streamlined data processing, quality control, management,\\nand provenance (Aim 2); and the promotion of best practice, scalable, multi-modal data processing, analysis,\\nand integration (Aim 3).\\nThe Core will work closely with the personnel of the Administrative Core, the Cores, and the Projects for\\nefficient and timely data delivery. The rich metadata captured across all activities, along with versions, code,\\nand extensive provenance activities, will ascertain that all datapoints adhere to the FAIR principles. By\\ncentralizing high throughput assay performance, bioinformatics, and biostatistics the Core enables uniform\\nbest practice analyses across all activities, effective data integration, seamless reuse, interoperability, and\\ncost-effectiveness.\\nAll pipelines and protocols will be shared to facilitate the community to recreate findings and build upon this\\neffort. Wherever possible, pipelines will be provided as complete workflows or containers for easy deployment\\nin diverse environments. We will build upon our experience of implementing production grade assays and\\nimpactful bioinformatics/data resources that are trusted by researchers worldwide.\",\n \"PROJECT SUMMARY\\n The global rate of HIV infection and number of AIDS related deaths have dramatically declined thanks to the\\nexpanding access to combination antiretroviral therapy (cART). However, current cART is only able to suppress\\nacute replication of HIV but fails to eliminate it. HIV epidemic remains unsolved and new HIV infections still occur\\nat a remarkable rate worldwide. Furthermore, HIV infection, even under control of cART, still persistently\\nassociates with the chronic immune activation that attributes to the significant increase of risk for inflammation-\\nrelated diseases and the accelerated aging process. Identification of novel host-HIV interactions critical to HIV\\ninfection will not only improve our understanding of HIV infection courses, but also accelerate the finding of new\\nstrategies to develop antiretroviral agents perturbing host regulatory factors, which can efficiently eliminate HIV,\\nleading to a HIV/AIDS cure. Following HIV infection, Nef is expressed as one of the earliest and most abundant\\nviral proteins and important to establishment of HIV persistent infection. Our recent studies have identified that\\nHIV Nef plays a role in enhancing SUMOylation of polo-like kinase 1 (PLK1) and leading to its nuclear\\naccumulation. We provided the evidence that depletion or inhibition of PLK1 promotes cell death of HIV-infected\\nCD4+ T cells and facilitates elimination of HIV reservoirs. In this proposal, we aim to investigate the Nef-PLK1\\naxis based on our hypothesis that PLK1 is Nef\\u2019s host effector that executes its key function to promote cell\\nsurvival and immune escape, thus supporting HIV persistent infection. We will investigate the molecular insights\\nfor HIV Nef to activate PLK1 protein SUMOylation and its nuclear accumulation. We will also dissect the signaling\\ntransduction of PLK1 to promote survival and immune escape of HIV reservoir cells. Beyond the fundamental\\nstudies, we will test the potential of small-molecule inhibitors targeting PLK1 as the reagents for elimination HIV\\nreservoirs. It is well acknowledged that simian immunodeficiency virus (SIV) infection of macaques closely\\nresembles HIV infection of humans, which serves as the best available animal model for studying progression\\nand pathogenesis of AIDS. We will determine whether the function of Nef-PLK1 axis is conserved in SIV infection.\\nWe will also evaluate whether PLK1 inhibition is potent to eliminate SIV reservoirs. In Aim 1, we will investigate\\nHIV/SIV Nef\\u2019s role in controlling PLK1 protein modifications and functions. In Aim 2, we will determine PLK1\\u2019s\\nrole in promoting survival and immune escape of HIV/SIV reservoirs. In Aim 3, we will evaluate therapeutic\\npotential of PLK1 inhibitors for eliminating HIV/SIV viral reservoirs ex vivo.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_title\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 976,\n \"samples\": [\n \"Scripps Center for Oceans and Human Health: advancing the science of marine contaminants and seafood security\",\n \"Leveraging ML algorithms and data integration techniques to improve efficiency of causal moderation analyses of micro-randomized trial data\",\n \"Materials and Metrology Core (MMC)\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"phr_text\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 922,\n \"samples\": [\n \"Project Narrative\\nThe overall goal of this project is to establish a premier CaREER (Cancer Research Education Excellence in\\nRadiotherapy) program to train a highly diverse next generation of scientists, technologists and physicians who\\nwill be empowered to pursue careers involving research in emerging and transformative areas of radiotherapy.\\nThese transformative areas of research have major potential to address radiotherapy limitations in substantial\\nways, extend radiotherapy to curative treatment of both local and metastatic disease, and reduce disparities with\\ninnovations to reduce treatment time and cost, enhance patient convenience, and significantly increase survival\\nand quality of life for cancer patients.\",\n \"Project Narrative\\nSince its emergence in 2019, SARS-CoV-2, a novel sarbecoronavirus, has infected at least half of the United\\nStates population and has left many individuals with debilitating neurological post-acute COVID-19 sequalae\\n(neuro-PASC). Currently, the etiology of neuro-PASC remains unknown, but early clinical data suggests that\\nneuro-PASC could be attributed to an overactive immune system. Therefore, in line with these recent findings,\\nthis proposed research project will determine whether microglia, the resident macrophages in the brain, rely\\nupon the spleen tyrosine kinase (SYK) gene, an important regulator of microglia inflammatory responses, to\\nperform pervasive activity in the COVID-19 brain.\",\n \"PROJECT NARRATIVE\\nGenetics are known to play a strong role in the development of inflammatory bowel diseases but exactly how\\ngenetic variants contribute to disease pathways is not well understood. Genetic variants can be associated with\\nregulating molecular mechanisms such as chromatin accessibility and gene expression by mapping molecular\\nquantitative trait loci (QTL). Using colocalization, we can link QTL to disease-associated variants to identify\\nputative causal mechanisms of genetic variants that can provide novel insight into disease mechanisms as well\\nas serve as potential therapeutic targets or clinical markers by identifying target genes contributing to disease.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_detail_url\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 983,\n \"samples\": [\n \"https://reporter.nih.gov/project-details/10870976\",\n \"https://reporter.nih.gov/project-details/10778042\",\n \"https://reporter.nih.gov/project-details/11034633\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"pref_terms\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 966,\n \"samples\": [\n \"Acceleration;Area;Aspergillus fumigatus;Behavior;Characteristics;Chronic;Clinical;Coculture Techniques;Communication;Cystic 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abstract_textproject_titlephr_textproject_detail_urlpref_termsappl_idproject_numGardNameCONF_SCORESEM_SIM (only_sen)SEM_SIM (whole_abstract)only_sen
0PROJECT SUMMARY\\nMalignant pleural mesotheliom...Targeting the Mitochondria to Overcome Resista...NARRATIVE\\nThe proposed research is relevant t...https://reporter.nih.gov/project-details/10857052Acceleration;Adjuvant Study;Aftercare;Alternat...108570521R37CA289419-01pleural mesothelioma20.00.770.77targeting the mitochondria to overcome resista...
1Abstract\\n Heavy and high-intensity alcohol us...Using Advanced Methodologies to Investigate th...Project Narrative\\n Alcohol misuse (e.g., bing...https://reporter.nih.gov/project-details/10901327Acceleration;Adolescence;Adolescent;Adult;Affe...109013271F31AA031154-01A1NoneNaNNaNNaNNone
2SUMMARY\\nBetween 2000, when the first version ...Hypothesis Testing using Phylogenies for the 2...NARRATIVE\\nThis proposal seeks to sustain and ...https://reporter.nih.gov/project-details/10729148Acceleration;Address;Algorithms;Benchmarking;B...107291481R01GM151683-01NoneNaNNaNNaNNone
3Abstract. While new, higher-valency pneumococc...A Phase II Study Evaluating the Safety and Eff...Project Narrative. In this project, a phase 2 ...https://reporter.nih.gov/project-details/10703986Acute;Address;Adjuvant;Adult;Adverse event;Age...107039861U01AI172733-01A1NoneNaNNaNNaNNone
4Project Summary\\nThis project aims to unlock t...Capturing Autobiographical memory formation in...Project Narrative\\nThis project aims to unlock...https://reporter.nih.gov/project-details/10792324Accelerometer;Address;Alzheimer&apos;s Disease...107923241R61MH135109-01NoneNaNNaNNaNNone
.......................................
996PROJECT SUMMARY\\nThis proposed supplement resp...Understanding and Supporting Reproductive Deci...PROJECT NARRATIVE\\nAdjoa Manu is a promising p...https://reporter.nih.gov/project-details/10930284Access to Information;Address;Affect;African A...109302843R01HD105655-03S1NoneNaNNaNNaNNone
997Project Summary/Abstract. Scleroderma (systemi...UNDERSTANDING CADHERIN-11 IN THE DEVELOPMENT A...PROJECT NARRATIVE\\nCadherin-11, an adhesion mo...https://reporter.nih.gov/project-details/10797325Address;Architecture;Autoimmune;Behavior;Biolo...107973251R01AR082635-01A1systemic sclerosis1.00.950.77scleroderma (systemic sclerosis, ssc) is a pro...
997Project Summary/Abstract. Scleroderma (systemi...UNDERSTANDING CADHERIN-11 IN THE DEVELOPMENT A...PROJECT NARRATIVE\\nCadherin-11, an adhesion mo...https://reporter.nih.gov/project-details/10797325Address;Architecture;Autoimmune;Behavior;Biolo...107973251R01AR082635-01A1scleroderma1.00.980.77scleroderma (systemic sclerosis, ssc) is a pro...
998PROJECT SUMMARY\\n When a new route is learned,...Revealing the Functional and Microstructural R...PROJECT NARRATIVE\\nStudies of brain neuroplast...https://reporter.nih.gov/project-details/10806311Alzheimer&apos;s Disease;Anatomy;Animal Experi...108063111K99NS132984-01A1NoneNaNNaNNaNNone
999Summary\\nOver the next project period, The Ind...MFRPS Maintenance - Indiana Department of Heal...Project Narrative\\nThe Indiana Department of H...https://reporter.nih.gov/project-details/10828567None108285671U2FFD008091-01NoneNaNNaNNaNNone
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\n" + ], + "text/plain": [ + " abstract_text \\\n", + "0 PROJECT SUMMARY\\nMalignant pleural mesotheliom... \n", + "1 Abstract\\n Heavy and high-intensity alcohol us... \n", + "2 SUMMARY\\nBetween 2000, when the first version ... \n", + "3 Abstract. While new, higher-valency pneumococc... \n", + "4 Project Summary\\nThis project aims to unlock t... \n", + ".. ... \n", + "996 PROJECT SUMMARY\\nThis proposed supplement resp... \n", + "997 Project Summary/Abstract. Scleroderma (systemi... \n", + "997 Project Summary/Abstract. Scleroderma (systemi... \n", + "998 PROJECT SUMMARY\\n When a new route is learned,... \n", + "999 Summary\\nOver the next project period, The Ind... \n", + "\n", + " project_title \\\n", + "0 Targeting the Mitochondria to Overcome Resista... \n", + "1 Using Advanced Methodologies to Investigate th... \n", + "2 Hypothesis Testing using Phylogenies for the 2... \n", + "3 A Phase II Study Evaluating the Safety and Eff... \n", + "4 Capturing Autobiographical memory formation in... \n", + ".. ... \n", + "996 Understanding and Supporting Reproductive Deci... \n", + "997 UNDERSTANDING CADHERIN-11 IN THE DEVELOPMENT A... \n", + "997 UNDERSTANDING CADHERIN-11 IN THE DEVELOPMENT A... \n", + "998 Revealing the Functional and Microstructural R... \n", + "999 MFRPS Maintenance - Indiana Department of Heal... \n", + "\n", + " phr_text \\\n", + "0 NARRATIVE\\nThe proposed research is relevant t... \n", + "1 Project Narrative\\n Alcohol misuse (e.g., bing... \n", + "2 NARRATIVE\\nThis proposal seeks to sustain and ... \n", + "3 Project Narrative. In this project, a phase 2 ... \n", + "4 Project Narrative\\nThis project aims to unlock... \n", + ".. ... \n", + "996 PROJECT NARRATIVE\\nAdjoa Manu is a promising p... \n", + "997 PROJECT NARRATIVE\\nCadherin-11, an adhesion mo... \n", + "997 PROJECT NARRATIVE\\nCadherin-11, an adhesion mo... \n", + "998 PROJECT NARRATIVE\\nStudies of brain neuroplast... \n", + "999 Project Narrative\\nThe Indiana Department of H... \n", + "\n", + " project_detail_url \\\n", + "0 https://reporter.nih.gov/project-details/10857052 \n", + "1 https://reporter.nih.gov/project-details/10901327 \n", + "2 https://reporter.nih.gov/project-details/10729148 \n", + "3 https://reporter.nih.gov/project-details/10703986 \n", + "4 https://reporter.nih.gov/project-details/10792324 \n", + ".. ... \n", + "996 https://reporter.nih.gov/project-details/10930284 \n", + "997 https://reporter.nih.gov/project-details/10797325 \n", + "997 https://reporter.nih.gov/project-details/10797325 \n", + "998 https://reporter.nih.gov/project-details/10806311 \n", + "999 https://reporter.nih.gov/project-details/10828567 \n", + "\n", + " pref_terms appl_id \\\n", + "0 Acceleration;Adjuvant Study;Aftercare;Alternat... 10857052 \n", + "1 Acceleration;Adolescence;Adolescent;Adult;Affe... 10901327 \n", + "2 Acceleration;Address;Algorithms;Benchmarking;B... 10729148 \n", + "3 Acute;Address;Adjuvant;Adult;Adverse event;Age... 10703986 \n", + "4 Accelerometer;Address;Alzheimer's Disease... 10792324 \n", + ".. ... ... \n", + "996 Access to Information;Address;Affect;African A... 10930284 \n", + "997 Address;Architecture;Autoimmune;Behavior;Biolo... 10797325 \n", + "997 Address;Architecture;Autoimmune;Behavior;Biolo... 10797325 \n", + "998 Alzheimer's Disease;Anatomy;Animal Experi... 10806311 \n", + "999 None 10828567 \n", + "\n", + " project_num GardName CONF_SCORE SEM_SIM (only_sen) \\\n", + "0 1R37CA289419-01 pleural mesothelioma 20.0 0.77 \n", + "1 1F31AA031154-01A1 None NaN NaN \n", + "2 1R01GM151683-01 None NaN NaN \n", + "3 1U01AI172733-01A1 None NaN NaN \n", + "4 1R61MH135109-01 None NaN NaN \n", + ".. ... ... ... ... \n", + "996 3R01HD105655-03S1 None NaN NaN \n", + "997 1R01AR082635-01A1 systemic sclerosis 1.0 0.95 \n", + "997 1R01AR082635-01A1 scleroderma 1.0 0.98 \n", + "998 1K99NS132984-01A1 None NaN NaN \n", + "999 1U2FFD008091-01 None NaN NaN \n", + "\n", + " SEM_SIM (whole_abstract) \\\n", + "0 0.77 \n", + "1 NaN \n", + "2 NaN \n", + "3 NaN \n", + "4 NaN \n", + ".. ... \n", + "996 NaN \n", + "997 0.77 \n", + "997 0.77 \n", + "998 NaN \n", + "999 NaN \n", + "\n", + " only_sen \n", + "0 targeting the mitochondria to overcome resista... \n", + "1 None \n", + "2 None \n", + "3 None \n", + "4 None \n", + ".. ... \n", + "996 None \n", + "997 scleroderma (systemic sclerosis, ssc) is a pro... \n", + "997 scleroderma (systemic sclerosis, ssc) is a pro... \n", + "998 None \n", + "999 None \n", + "\n", + "[1035 rows x 12 columns]" + ] + }, + "execution_count": 48, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "df =result_df #\n", + "# Initialize an empty list to store new rows\n", + "new_rows = []\n", + "# Iterate over each row of the DataFrame\n", + "for index, row in df.iterrows():\n", + " if isinstance(row['Gard_name_'], dict):\n", + " dictionary = row['Gard_name_']\n", + " for key, value_list in dictionary.items():\n", + " #for value in value_list:\n", + " new_row = row.copy()\n", + " new_row['GardName'] = key\n", + " new_row['CONF_SCORE'], new_row['SEM_SIM (only_sen)'], new_row['SEM_SIM (whole_abstract)'], new_row['only_sen'] = value_list\n", + " new_rows.append(new_row)\n", + " else:\n", + " # Create a new row with missing value for 'B'\n", + " new_row = row.copy()\n", + " new_row['GardName'] = None\n", + " new_row['CONF_SCORE'], new_row['SEM_SIM (only_sen)'], new_row['SEM_SIM (whole_abstract)'], new_row['only_sen'] = None,None,None,None\n", + " new_rows.append(new_row)\n", + "# Create a new DataFrame from the list of new rows\n", + "new_df = pd.DataFrame(new_rows)\n", + "# Drop the original 'B' column\n", + "new_df.drop('Gard_name_', axis=1, inplace=True)\n", + "new_df['terms']=new_df['pref_terms'].apply(lambda x: [term.lower() for term in x.split(';')] if isinstance(x, str) else [])\n", + "def get_syn(x):\n", + " if isinstance(x, str):#and isinstance(x, list) and len(x) > 0:\n", + " return Gard['Synonyms_sw_bow'][Gard['GardName'] == x].values[0]+ Gard['Synonyms_sw_stem_bow'][Gard['GardName'] == x].values[0]\n", + "new_df['Synonyms'] = new_df['GardName'].apply(lambda x: get_syn(x))\n", + "def check_common(a,b,c):\n", + " if isinstance(c, str):\n", + " for i in a:\n", + " if i.lower() in b:\n", + " return True\n", + " return False\n", + " return None\n", + "new_df['IS_MAPPED_TO_TERM'] = new_df.apply(lambda x: check_common(x['terms'],x['Synonyms'],x['GardName']) ,axis=1 )\n", + "new_df" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 339 + }, + "id": "mQ-gWdKwWIUW", + "outputId": "c1655bc3-1a5a-4312-8c89-6c6567a901ba" + }, + "outputs": [ + { + "ename": "KeyboardInterrupt", + "evalue": "", + "output_type": "error", + "traceback": [ + "\u001b[0;31m---------------------------------------------------------------------------\u001b[0m", + "\u001b[0;31mKeyboardInterrupt\u001b[0m Traceback (most recent call last)", + "\u001b[0;32m\u001b[0m in \u001b[0;36m\u001b[0;34m()\u001b[0m\n\u001b[1;32m 1\u001b[0m \u001b[0mAbstract1\u001b[0m \u001b[0;34m=\u001b[0m \u001b[0mAbstract\u001b[0m\u001b[0;34m\u001b[0m\u001b[0;34m\u001b[0m\u001b[0m\n\u001b[0;32m----> 2\u001b[0;31m \u001b[0mAbstract1\u001b[0m\u001b[0;34m[\u001b[0m\u001b[0;34m'Gard_name_'\u001b[0m\u001b[0;34m]\u001b[0m\u001b[0;34m=\u001b[0m\u001b[0mAbstract1\u001b[0m\u001b[0;34m.\u001b[0m\u001b[0mapply\u001b[0m\u001b[0;34m(\u001b[0m\u001b[0;32mlambda\u001b[0m \u001b[0mx\u001b[0m\u001b[0;34m:\u001b[0m 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"\u001b[0;31mKeyboardInterrupt\u001b[0m: " + ] + } + ], + "source": [ + "Abstract1 = Abstract\n", + "Abstract1['Gard_name_']=Abstract1.apply(lambda x: grad_id(x['project_title'],x['phr_text'],x['abstract_text']), axis=1)\n", + "#Abstract1[Abstract1['Gard_name_'].notnull()]" + ] + }, + { + "cell_type": "markdown", + "metadata": { + "id": "JVysOdly5Roo" + }, + "source": [] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 1000 + }, + "id": "7IP0WjGl0nf9", + "outputId": "933ab33e-378e-4bab-db2c-19f5bf1de0a6" + }, + "outputs": [ + { + "data": { + "application/vnd.google.colaboratory.intrinsic+json": { + "summary": "{\n \"name\": \"Abstract1\",\n \"rows\": 30,\n \"fields\": [\n {\n \"column\": \"abstract_text\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 30,\n \"samples\": [\n \"Project Summary\\n This application requests funds to support the 14th Gordon Research Conference on Environmental\\nEndocrine Disruptors (GRC-EED), to be held June 23-28, 2024 and the accompanying Gordon Research\\nSymposium (GRS) for trainees, to be held June 22-23, 2024 at the Renaissance Tuscany Il Ciocco Resort in\\nBarga, Italy. The conference theme is The role of EEDs in planetary health and planetary boundaries and the\\nunifying goal of the conference is to present cutting-edge results, illustrating the depth and breadth of work\\nbeing done to study EEDs, in a way that is accessible across disciplines and beyond the boundaries of\\nscience. The GRC-EED will have 9 sessions: The first session will have two keynote talks focused on a high-\\nlevel view of human exposures to EEDs and their health consequences. Next, there will be scientific sessions,\\neach focused around a broad topic such as \\u201cMechanisms of EED Action\\u201d, \\u201cCharacterizing human exposure to\\nEEDs\\u201d, \\u201cBreaking down the walls between human and experimental toxicology\\u201d and \\u201cEnhancing\\ninterdisciplinary and multistakeholder collaboration in the EED field\\u201d. The final session will highlight \\u201cbig\\npicture\\u201d issues related to \\u201cPlanetary Health: Global Solutions for Global Problems\\u201d. The GRC-EED will also\\ninclude two poster sessions, and speakers will be selected from the submitted abstracts to also give short\\ntalks.\\n Prior to the GRC-EED, the GRS will provide an outstanding, intimate setting with opportunities for\\ntrainees to network and present their work in a supportive environment. The GRS will include a keynote\\nspeaker and a discussion panel with four members representing different career paths (government, industry,\\nacademia and non-profits) and additional speakers will be selected from trainee abstracts.\\n The GRC-EED and GRS are intended to have presentations by leading scientists highlighting new\\ninformation from researchers who work across several disciplines including toxicology, endocrinology,\\nneuroscience, exposure science, public health, ecology, physiology, and epidemiology, among others. The\\nconference has been organized to integrate these various fields throughout the meeting to permit open and\\ninformative discussions, introduce new paradigms and lead the field forward towards novel discoveries. The\\nGRC represents a unique venue for promoting the exchange of scientific ideas through its format of extensive\\ndiscussion periods in each session, ample free time to encourage informal interactions, and exchanges at\\nposter sessions that will allow attendees to present their latest research findings in a collegial atmosphere.\",\n \"PROJECT SUMMARY\\nThe widespread misuse of prescription opioids, opioid addiction, and overdose has underscored the urgent need\\nto develop effective, non-addicting medications to treat chronic pain, a leading cause of insomnia. Agonists at\\nthe nociceptin/orphanin FQ (N/OFQ) receptor (NOPR) have shown promise as modulators of the antinociceptive\\nand rewarding effects of opioids. We have found that two different NOPR agonists potently induced sleep and\\nincreased EEG delta power in rats, mice, and non-human primates, suggesting that the N/OFQ-NOPR system\\nmay have a previously unrecognized role in sleep/wake regulation. Since our studies used synthetic compounds,\\nthe hypothesis to be tested in this proposal is that the N/OFQ-NOPR system is a component of the\\nendogenous sleep/wake regulatory system. First, we will evaluate whether disruption of endogenous NOPR\\ntone affects the regulation of activity, sleep/wake and/or body temperature (Tb) using a novel, inducible NOPR\\n(iNOPR) KO mouse strain in which NOPR can be deleted throughout the brain by systemic administration of\\ntamoxifen. We will expand on our initial results which indicate that, not only do iNOPR KO mice fail to respond\\nto NOPR agonism by increasing NREM sleep, they exhibit a partial insomnia under baseline conditions with\\nlonger wake bouts during the major sleep period. We will then begin to establish the neuroanatomical foundation\\nfor the phenotypes identified in the global deletion study and for subsequent circuit-based studies by determining\\nthe chemotypes of neurons activated by NOPR agonism. First, we will determine NOPR expression in neuronal\\npopulations known to be involved in sleep/wake control. Global assessment of NOP agonist-induced c-Fos\\nexpression showed that two of 316 brain areas stood out as having increased Fos expression: the lateral\\nhabenula (LHb) and the anterodorsal preoptic and adjacent parastrial (ADP/PS) nuclei. We will follow up by\\nobtaining a global view on NOP agonist-induced Fos expression in Oprl1 KI-eGFP and Pnoc-IRES-Cre\\n(Prepronociceptin-IRES-Cre) mice and use other genetic markers to further characterize and quantify the Fos+\\nneurons. Next, we will determine whether local NOPR deletion affects activity, sleep/wake and/or Tb by injecting\\na Cre-dependent virus into candidate brain regions in NOPRlox/lox mice, particularly focusing on the LHb and\\nADP/PS nuclei. We will then chemogenetically activate glutamatergic and NOPR+ neurons in the LHb to\\ndetermine whether these cells affect activity, sleep/wake and/or Tb and use the Fos-TRAP method to\\nchemogenetically reactivate LHb and ADP/PS neurons labelled after NOPR agonist treatment. The information\\nobtained will further our understanding of the role of the N/OFQ \\u2013 NOP system in sleep/wake control and enable\\nus to develop a circuit-based model to understand the effects on NOPR agonism on sleep/wake physiology.\",\n \"PROJECT SUMMARY\\nDeciphering the functional consequences of naturally occurring human genetic variation is critical to our\\nunderstanding of human disease as well as to the advancement of precision medicine. The identification of loci\\nthat influence disease progression in human populations is not only important for identifying druggable targets,\\nbut also enables risk stratification approaches for the clinical management of disease. Unfortunately, practical\\nand biological limitations to cohort-based association studies have restricted our ability to identify and\\nmechanistically interrogate disease-relevant alleles, especially those that impact infectious diseases. As an\\nexample, despite repeated efforts over several decades, only a handful of human genetic variants have been\\nlinked to differences in Human Immunodeficiency Virus (HIV) pathogenesis, and these are only able to explain\\na small fraction of the observed clinical variation. One of these variants, a truncation in the HIV co-receptor\\nCCR5, has been shown to provide resistance to HIV infection and is the basis for the only four cases of HIV cure\\nachieved to date. Here, we propose to develop a new functional genomics platform for the engineering and\\nfunctional phenotyping of naturally occurring genetic variants to enable de novo identification of disease-relevant\\nalleles. Leveraging advances in gene editing technology, we seek to effectively recapitulate all known human\\ngenetic variation at a given locus in a single test tube of cells for rapid and cost-effective functional screening.\\nAs proof-of-principle, we aim to engineer and functionally classify the impact of all >1600 known naturally\\noccurring CCR5 variants on: 1) CCR5 cell surface expression, 2) HIV-1 susceptibility, and 3) efficacy of the\\nCCR5-targeting antiretroviral drug, Maraviroc. Using batched, tiled arrays of synthetic oligonucleotides, each\\nvariant will be cloned into a homology-directed repair template and pooled into an allelic variant library. This\\nlibrary will be delivered to a CCR5-haploid Jurkat cell line alongside CRISPR-Cas9 ribonucleoprotein complexes\\ntargeting CCR5 to generate knock-in, polyclonal pools of cells harboring distinct naturally occurring variants.\\nThese populations will be immunostained for CCR5, sorted, and subject to deep sequencing to identify variants\\nimpacting cell surface expression. Subsequently, cells will be subject to multiple rounds of HIV-1 infection and\\nsorting to identify alleles with a protective phenotype. This same experiment will be done in the presence of the\\nMaraviroc, selecting for variants that escape antiretroviral activity of the drug. Genotype-phenotype relationships\\nwill be additionally monitored at the single cell level by droplet-assisted RNA-targeting single-cell sequencing\\n(DART-seq) for added rigor. The most significantly impactful variants will be validated by targeted insertion into\\nprimary human T cells to determine their impact on HIV infection ex vivo. Altogether, this proposal seeks to\\nprovide an innovative, actionable approach for the identification and mapping of host factor determinants at\\nsingle nucleotide resolution with broad implications not only for the development of new HIV treatment modalities,\\nbut for continued research on the role of host genetic variation in human disease.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_title\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 30,\n \"samples\": [\n \"2024 Environmental Endocrine Disruptors Gordon Research Conference and Gordon Research Seminar\",\n \"Nociceptin, NOPR and Sleep/Wake Control\",\n \"A Functional Genomics Platform for the de novo Identification of Disease-relevant Alleles\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"phr_text\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 30,\n \"samples\": [\n \"Project Narrative\\nThe 14th Gordon Research Conference on Environmental Endocrine Disruptors will bring together basic and\\ntranslational scientists, clinicians, and public health advocates across scientific disciplines to increase\\ncollaboration and discussions to foster cross-fertilization in the field. The theme of this conference, the impact\\nof environmental endocrine disruptors on planetary health and planetary boundaries, will allow researchers to\\npresent cutting-edge results, illustrating the depth and breadth of the field, in a way that is accessible across\\ndisciplines. The primary objective of this conference is to remain the preeminent place for researchers at every\\ncareer stage to learn about the latest advancements and exchange scientific ideas relevant to the endocrine\\ndisruptors.\",\n \"PROJECT NARRATIVE\\nIn a paper published in PNAS in 2023, we found that two different NOP receptor (NOPR) agonists potently\\ninduced sleep and profoundly increased EEG delta power in rats, mice, and non-human primates, suggesting\\nthat the N/OFQ-NOPR system may have a previously unrecognized role in sleep/wake regulation. At the highest\\ndoses tested, the magnitude of the NREM sleep and EEG delta power increase induced by either NOPR agonist\\nexceeded that produced by the GABAA agonist zolpidem (AmbienTM, the leading insomnia medication). Since\\nour studies to date have been based on use of exogenous compounds, in this proposal, we will test the\\nhypothesis that the N/OFQ-NOPR system is a component of the endogenous sleep/wake regulatory system.\",\n \"PROJECT NARRATIVE\\nThis project aims to develop a new gene editing platform for understanding how natural human genetic variation\\ncan influence disease progression and drug efficacy. As proof-of-principle, this platform will be first be used to\\nsystematically characterize how variants of the HIV-1 co-receptor CCR5 can influence receptor expression, HIV\\ninfection, and antiretroviral drug activity. Ultimately, this work seeks to provide new technologies and paradigms\\nfor efficiently and rapidly exploring the influence of human genetic variation on disease outcomes and treatment\\nefficacy to enhance the speed of future therapeutic development.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_detail_url\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 30,\n \"samples\": [\n \"https://reporter.nih.gov/project-details/10905196\",\n \"https://reporter.nih.gov/project-details/10859813\",\n \"https://reporter.nih.gov/project-details/10890308\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"pref_terms\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 30,\n \"samples\": [\n \"Academia;Address;Adverse effects;Advocate;Affect;Air;Animals;Area;Biodiversity;Career Choice;Coin;Collaborations;Complement;Data;Decision Making;Developmental Biology;Diabetes 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abstract_textproject_titlephr_textproject_detail_urlpref_termsappl_idproject_numGard_name_
0PROJECT SUMMARY\\nMalignant pleural mesotheliom...Targeting the Mitochondria to Overcome Resista...NARRATIVE\\nThe proposed research is relevant t...https://reporter.nih.gov/project-details/10857052Acceleration;Adjuvant Study;Aftercare;Alternat...108570521R37CA289419-01{'pleural mesothelioma': [100, 0.77, 0.77, 'ta...
1Abstract\\n Heavy and high-intensity alcohol us...Using Advanced Methodologies to Investigate th...Project Narrative\\n Alcohol misuse (e.g., bing...https://reporter.nih.gov/project-details/10901327Acceleration;Adolescence;Adolescent;Adult;Affe...109013271F31AA031154-01A1None
2SUMMARY\\nBetween 2000, when the first version ...Hypothesis Testing using Phylogenies for the 2...NARRATIVE\\nThis proposal seeks to sustain and ...https://reporter.nih.gov/project-details/10729148Acceleration;Address;Algorithms;Benchmarking;B...107291481R01GM151683-01None
3Abstract. While new, higher-valency pneumococc...A Phase II Study Evaluating the Safety and Eff...Project Narrative. In this project, a phase 2 ...https://reporter.nih.gov/project-details/10703986Acute;Address;Adjuvant;Adult;Adverse event;Age...107039861U01AI172733-01A1None
4Project Summary\\nThis project aims to unlock t...Capturing Autobiographical memory formation in...Project Narrative\\nThis project aims to unlock...https://reporter.nih.gov/project-details/10792324Accelerometer;Address;Alzheimer&apos;s Disease...107923241R61MH135109-01None
5Congenital heart disease (CHD) is the most com...Kidney-Associated Diseases after Congenital He...Children requiring surgery for congenital hear...https://reporter.nih.gov/project-details/10801359Acceleration;Acute Renal Failure with Renal Pa...108013591R01DK135518-01A1{'hypoplastic left heart syndrome': [3, 0.98, ...
6The inability to slow or revert progression to...Imaging and therapeutic targeting of tissue cr...Posttraumatic osteoarthritis is a common occur...https://reporter.nih.gov/project-details/10803635Age;Animal Model;Animals;Apoptosis;Apoptotic;C...108036351R01AR082670-01A1None
7PROJECT SUMMARY/ABSTRACT\\nA major hurdle in th...Targeting nutrient microenvironment imprinted ...PROJECT NARRATIVE\\nThe tumor microenvironment ...https://reporter.nih.gov/project-details/10804251Address;Adenocarcinoma Cell;Affect;Amino Acids...108042511R01CA276461-01A1None
8PROJECT SUMMARY\\nSubstance use disorders (SUDs...Engineering chemoproteomic tools for identifyi...PROJECT NARRATIVE\\nIn humans, substance use di...https://reporter.nih.gov/project-details/10804973Abstinence;Acute;Animals;Binding;Biochemical;B...108049731R21DA059842-01None
9Project Abstract\\nThe prevalence of neurodevel...Cumulative effects of persistent organic pollu...Project Narrative\\nPregnant people are exposed...https://reporter.nih.gov/project-details/10807673Affect;African American;African American popul...108076731K01ES035082-01A1None
10Project Summary\\nHigh-content automated fluore...Laser-based high content imaging microscopeProject Narrative\\nThe U-M Center for Drug Rep...https://reporter.nih.gov/project-details/10850479Address;Automation;Biological;Biological Assay...108504791S10OD034245-01A1None
11PROJECT SUMMARY/ABSTRACT\\nWe are requesting fu...Automated Patch Clamp SystemPROJECT NARRATIVE\\nWe are requesting funds for...https://reporter.nih.gov/project-details/10853806Basic Science;Businesses;Calcium;Cardiology;Ce...108538061S10OD034378-01A1None
12Project Summary / Abstract:\\nSignificance: Spi...Treating Spinal Cord Injury with Mineral Coate...Project Narrative:\\nMore than 50 million peopl...https://reporter.nih.gov/project-details/10856238Aftercare;Age;Anti-Inflammatory Agents;Attenti...108562381R01NS136564-01{'spinal cord injury': [100, 0.67, 0.74, 'trea...
13PROJECT SUMMARY\\nCystic lymphatic malformation...Next Generation Treatments for Lymphatic Malfo...PROJECT NARRATIVE\\nLymphatic malformations are...https://reporter.nih.gov/project-details/10856703ANGPT2 gene;Ablation;Adhesions;Adjuvant;Affect...108567031R01HL173107-01None
14PROJECT SUMMARY\\nBackground and Objectives: Ne...Synaptic defects caused by mitochondrial compl...PROJECT NARRATIVE\\nHealth Relevance Narrative:...https://reporter.nih.gov/project-details/10858972Address;Affect;Apoptosis;Ataxia;Axonal Transpo...108589721R01NS136753-01{'leigh syndrome': [20, 0.8, 0.76, 'loss of mi...
15PROJECT SUMMARY\\nThe widespread misuse of pres...Nociceptin, NOPR and Sleep/Wake ControlPROJECT NARRATIVE\\nIn a paper published in PNA...https://reporter.nih.gov/project-details/10859813Absence of pain sensation;Affect;Agonist;Area;...108598131R01NS136808-01None
16Neurodegeneration in Parkinson's disease (PD) ...Determining the influence of cellular environm...To develop effective interventions for Parkins...https://reporter.nih.gov/project-details/10869240Acceleration;Address;Adopted;Affinity;Amyloid;...108692401R21NS136951-01None
17The pathological hallmarks of multiple scleros...Investigating changes in myelin lipid composit...Proteins of the myelin sheath, such as myelin ...https://reporter.nih.gov/project-details/10871196Acetylcysteine;Address;Affect;Antibodies;Antio...108711961R21NS137101-01None
18Mitochondrial dysfunction and oxidative stress...Targeting the FBXW7/PGC1 Pathway as a Therapeu...Parkinson’s disease (PD) is associated with ac...https://reporter.nih.gov/project-details/10877503Acetylation;Affect;Alzheimer&apos;s Disease;An...108775031R01NS133187-01A1None
19PROJECT SUMMARY\\nThe objective of this proposa...An RNA-Dependent Innate Immune Response Pathwa...PROJECT NARRATIVE\\nBase damage by alkylating a...https://reporter.nih.gov/project-details/10881472Alkylating Agents;Alkylation;Apoptosis;Biochem...108814721R01CA282733-01A1None
20PROJECT SUMMARY\\nAlthough the neuromodulators ...Structure and Function of Striatal Neuromodula...PROJECT NARRATIVE\\nThe neuromodulators dopamin...https://reporter.nih.gov/project-details/10882036Acetylcholine;Action Potentials;Adaptive Behav...108820361R01MH133669-01A1None
21Abstract:\\nWith increased use of fentanyl or f...Delineation of microRNA regulatory pathways th...Project narrative:\\nFentanyl and fentanyl anal...https://reporter.nih.gov/project-details/10889410Abstinence;Acute;Agonist;Arrestins;Basic Scien...108894101R21DA058121-01A1None
22A novel gene-based immunotherapy inducing mela...A novel gene-based immunotherapy inducing mela...Project Narrative\\nThe proposed work is a proo...https://reporter.nih.gov/project-details/10889836Active Biological Transport;Adaptive Immune Sy...108898361R21CA283583-01A1{'american trypanosomiasis': [2, 0.79, 0.17, '...
23PROJECT SUMMARY\\nDeciphering the functional co...A Functional Genomics Platform for the de novo...PROJECT NARRATIVE\\nThis project aims to develo...https://reporter.nih.gov/project-details/10890308Alleles;Anti-Retroviral Agents;Autologous Tran...108903081R21TR005017-01None
24PROJECT SUMMARY\\nA number of hormones in the b...Autonomous Platform for Pulsatile Soluble Stim...NARRATIVE\\nUnderstanding how hormones are regu...https://reporter.nih.gov/project-details/10891273Animal Model;Back;Biological;Biology;Bite;Cell...108912731R21TR005032-01None
25PROJECT SUMMARY\\nAbstract\\nAnimal survival is ...Dissecting the roles of glutamatergic receptor...PROJECT NARRATIVE\\nAnimal survival is dependen...https://reporter.nih.gov/project-details/10897516AMPA Receptors;Animals;Behavior;Behavioral;Bio...108975161R21NS134170-01A1None
26Project Summary\\nElectronic Nicotine Delivery ...Health Effects of E-cigarette Use on Brain Fun...Project Narrative\\nThis population study is ce...https://reporter.nih.gov/project-details/1089920610 year old;18 year old;Adolescence;Adolescent...108992061R01DA060466-01None
27Project Summary\\n This application requests fu...2024 Environmental Endocrine Disruptors Gordon...Project Narrative\\nThe 14th Gordon Research Co...https://reporter.nih.gov/project-details/10905196Academia;Address;Adverse effects;Advocate;Affe...109051961R13ES036450-01None
28Project Summary/Abstract:\\nThe basal ganglia a...2024 Basal Ganglia Gordon Research Conference ...Project Narrative\\nThe basal ganglia are a gro...https://reporter.nih.gov/project-details/10906603Acceleration;Address;Basal Ganglia;Basic Scien...109066031R13NS135891-01A1{'huntington disease': [10, 0.91, 0.85, 'proje...
29Project Summary:\\nOur project aims to investig...Effect of ILC3 loss on epithelial barrier func...Project Narrative:\\nUsing a novel human intest...https://reporter.nih.gov/project-details/10923303Address;Animal Model;Apoptosis;Automobile Driv...109233031R21DK138855-01A1None
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While new, higher-valency pneumococc... \n", + "4 Project Summary\\nThis project aims to unlock t... \n", + "5 Congenital heart disease (CHD) is the most com... \n", + "6 The inability to slow or revert progression to... \n", + "7 PROJECT SUMMARY/ABSTRACT\\nA major hurdle in th... \n", + "8 PROJECT SUMMARY\\nSubstance use disorders (SUDs... \n", + "9 Project Abstract\\nThe prevalence of neurodevel... \n", + "10 Project Summary\\nHigh-content automated fluore... \n", + "11 PROJECT SUMMARY/ABSTRACT\\nWe are requesting fu... \n", + "12 Project Summary / Abstract:\\nSignificance: Spi... \n", + "13 PROJECT SUMMARY\\nCystic lymphatic malformation... \n", + "14 PROJECT SUMMARY\\nBackground and Objectives: Ne... \n", + "15 PROJECT SUMMARY\\nThe widespread misuse of pres... \n", + "16 Neurodegeneration in Parkinson's disease (PD) ... \n", + "17 The pathological hallmarks of multiple scleros... \n", + "18 Mitochondrial dysfunction and oxidative stress... \n", + "19 PROJECT SUMMARY\\nThe objective of this proposa... \n", + "20 PROJECT SUMMARY\\nAlthough the neuromodulators ... \n", + "21 Abstract:\\nWith increased use of fentanyl or f... \n", + "22 A novel gene-based immunotherapy inducing mela... \n", + "23 PROJECT SUMMARY\\nDeciphering the functional co... \n", + "24 PROJECT SUMMARY\\nA number of hormones in the b... \n", + "25 PROJECT SUMMARY\\nAbstract\\nAnimal survival is ... \n", + "26 Project Summary\\nElectronic Nicotine Delivery ... \n", + "27 Project Summary\\n This application requests fu... \n", + "28 Project Summary/Abstract:\\nThe basal ganglia a... \n", + "29 Project Summary:\\nOur project aims to investig... \n", + "\n", + " project_title \\\n", + "0 Targeting the Mitochondria to Overcome Resista... \n", + "1 Using Advanced Methodologies to Investigate th... \n", + "2 Hypothesis Testing using Phylogenies for the 2... \n", + "3 A Phase II Study Evaluating the Safety and Eff... \n", + "4 Capturing Autobiographical memory formation in... \n", + "5 Kidney-Associated Diseases after Congenital He... \n", + "6 Imaging and therapeutic targeting of tissue cr... \n", + "7 Targeting nutrient microenvironment imprinted ... \n", + "8 Engineering chemoproteomic tools for identifyi... \n", + "9 Cumulative effects of persistent organic pollu... \n", + "10 Laser-based high content imaging microscope \n", + "11 Automated Patch Clamp System \n", + "12 Treating Spinal Cord Injury with Mineral Coate... \n", + "13 Next Generation Treatments for Lymphatic Malfo... \n", + "14 Synaptic defects caused by mitochondrial compl... \n", + "15 Nociceptin, NOPR and Sleep/Wake Control \n", + "16 Determining the influence of cellular environm... \n", + "17 Investigating changes in myelin lipid composit... \n", + "18 Targeting the FBXW7/PGC1 Pathway as a Therapeu... \n", + "19 An RNA-Dependent Innate Immune Response Pathwa... \n", + "20 Structure and Function of Striatal Neuromodula... \n", + "21 Delineation of microRNA regulatory pathways th... \n", + "22 A novel gene-based immunotherapy inducing mela... \n", + "23 A Functional Genomics Platform for the de novo... \n", + "24 Autonomous Platform for Pulsatile Soluble Stim... \n", + "25 Dissecting the roles of glutamatergic receptor... \n", + "26 Health Effects of E-cigarette Use on Brain Fun... \n", + "27 2024 Environmental Endocrine Disruptors Gordon... \n", + "28 2024 Basal Ganglia Gordon Research Conference ... \n", + "29 Effect of ILC3 loss on epithelial barrier func... \n", + "\n", + " phr_text \\\n", + "0 NARRATIVE\\nThe proposed research is relevant t... \n", + "1 Project Narrative\\n Alcohol misuse (e.g., bing... \n", + "2 NARRATIVE\\nThis proposal seeks to sustain and ... \n", + "3 Project Narrative. In this project, a phase 2 ... \n", + "4 Project Narrative\\nThis project aims to unlock... \n", + "5 Children requiring surgery for congenital hear... \n", + "6 Posttraumatic osteoarthritis is a common occur... \n", + "7 PROJECT NARRATIVE\\nThe tumor microenvironment ... \n", + "8 PROJECT NARRATIVE\\nIn humans, substance use di... \n", + "9 Project Narrative\\nPregnant people are exposed... \n", + "10 Project Narrative\\nThe U-M Center for Drug Rep... \n", + "11 PROJECT NARRATIVE\\nWe are requesting funds for... \n", + "12 Project Narrative:\\nMore than 50 million peopl... \n", + "13 PROJECT NARRATIVE\\nLymphatic malformations are... \n", + "14 PROJECT NARRATIVE\\nHealth Relevance Narrative:... \n", + "15 PROJECT NARRATIVE\\nIn a paper published in PNA... \n", + "16 To develop effective interventions for Parkins... \n", + "17 Proteins of the myelin sheath, such as myelin ... \n", + "18 Parkinson’s disease (PD) is associated with ac... \n", + "19 PROJECT NARRATIVE\\nBase damage by alkylating a... \n", + "20 PROJECT NARRATIVE\\nThe neuromodulators dopamin... \n", + "21 Project narrative:\\nFentanyl and fentanyl anal... \n", + "22 Project Narrative\\nThe proposed work is a proo... \n", + "23 PROJECT NARRATIVE\\nThis project aims to develo... \n", + "24 NARRATIVE\\nUnderstanding how hormones are regu... \n", + "25 PROJECT NARRATIVE\\nAnimal survival is dependen... \n", + "26 Project Narrative\\nThis population study is ce... \n", + "27 Project Narrative\\nThe 14th Gordon Research Co... \n", + "28 Project Narrative\\nThe basal ganglia are a gro... \n", + "29 Project Narrative:\\nUsing a novel human intest... \n", + "\n", + " project_detail_url \\\n", + "0 https://reporter.nih.gov/project-details/10857052 \n", + "1 https://reporter.nih.gov/project-details/10901327 \n", + "2 https://reporter.nih.gov/project-details/10729148 \n", + "3 https://reporter.nih.gov/project-details/10703986 \n", + "4 https://reporter.nih.gov/project-details/10792324 \n", + "5 https://reporter.nih.gov/project-details/10801359 \n", + "6 https://reporter.nih.gov/project-details/10803635 \n", + "7 https://reporter.nih.gov/project-details/10804251 \n", + "8 https://reporter.nih.gov/project-details/10804973 \n", + "9 https://reporter.nih.gov/project-details/10807673 \n", + "10 https://reporter.nih.gov/project-details/10850479 \n", + "11 https://reporter.nih.gov/project-details/10853806 \n", + "12 https://reporter.nih.gov/project-details/10856238 \n", + "13 https://reporter.nih.gov/project-details/10856703 \n", + "14 https://reporter.nih.gov/project-details/10858972 \n", + "15 https://reporter.nih.gov/project-details/10859813 \n", + "16 https://reporter.nih.gov/project-details/10869240 \n", + "17 https://reporter.nih.gov/project-details/10871196 \n", + "18 https://reporter.nih.gov/project-details/10877503 \n", + "19 https://reporter.nih.gov/project-details/10881472 \n", + "20 https://reporter.nih.gov/project-details/10882036 \n", + "21 https://reporter.nih.gov/project-details/10889410 \n", + "22 https://reporter.nih.gov/project-details/10889836 \n", + "23 https://reporter.nih.gov/project-details/10890308 \n", + "24 https://reporter.nih.gov/project-details/10891273 \n", + "25 https://reporter.nih.gov/project-details/10897516 \n", + "26 https://reporter.nih.gov/project-details/10899206 \n", + "27 https://reporter.nih.gov/project-details/10905196 \n", + "28 https://reporter.nih.gov/project-details/10906603 \n", + "29 https://reporter.nih.gov/project-details/10923303 \n", + "\n", + " pref_terms appl_id \\\n", + "0 Acceleration;Adjuvant Study;Aftercare;Alternat... 10857052 \n", + "1 Acceleration;Adolescence;Adolescent;Adult;Affe... 10901327 \n", + "2 Acceleration;Address;Algorithms;Benchmarking;B... 10729148 \n", + "3 Acute;Address;Adjuvant;Adult;Adverse event;Age... 10703986 \n", + "4 Accelerometer;Address;Alzheimer's Disease... 10792324 \n", + "5 Acceleration;Acute Renal Failure with Renal Pa... 10801359 \n", + "6 Age;Animal Model;Animals;Apoptosis;Apoptotic;C... 10803635 \n", + "7 Address;Adenocarcinoma Cell;Affect;Amino Acids... 10804251 \n", + "8 Abstinence;Acute;Animals;Binding;Biochemical;B... 10804973 \n", + "9 Affect;African American;African American popul... 10807673 \n", + "10 Address;Automation;Biological;Biological Assay... 10850479 \n", + "11 Basic Science;Businesses;Calcium;Cardiology;Ce... 10853806 \n", + "12 Aftercare;Age;Anti-Inflammatory Agents;Attenti... 10856238 \n", + "13 ANGPT2 gene;Ablation;Adhesions;Adjuvant;Affect... 10856703 \n", + "14 Address;Affect;Apoptosis;Ataxia;Axonal Transpo... 10858972 \n", + "15 Absence of pain sensation;Affect;Agonist;Area;... 10859813 \n", + "16 Acceleration;Address;Adopted;Affinity;Amyloid;... 10869240 \n", + "17 Acetylcysteine;Address;Affect;Antibodies;Antio... 10871196 \n", + "18 Acetylation;Affect;Alzheimer's Disease;An... 10877503 \n", + "19 Alkylating Agents;Alkylation;Apoptosis;Biochem... 10881472 \n", + "20 Acetylcholine;Action Potentials;Adaptive Behav... 10882036 \n", + "21 Abstinence;Acute;Agonist;Arrestins;Basic Scien... 10889410 \n", + "22 Active Biological Transport;Adaptive Immune Sy... 10889836 \n", + "23 Alleles;Anti-Retroviral Agents;Autologous Tran... 10890308 \n", + "24 Animal Model;Back;Biological;Biology;Bite;Cell... 10891273 \n", + "25 AMPA Receptors;Animals;Behavior;Behavioral;Bio... 10897516 \n", + "26 10 year old;18 year old;Adolescence;Adolescent... 10899206 \n", + "27 Academia;Address;Adverse effects;Advocate;Affe... 10905196 \n", + "28 Acceleration;Address;Basal Ganglia;Basic Scien... 10906603 \n", + "29 Address;Animal Model;Apoptosis;Automobile Driv... 10923303 \n", + "\n", + " project_num Gard_name_ \n", + "0 1R37CA289419-01 {'pleural mesothelioma': [100, 0.77, 0.77, 'ta... \n", + "1 1F31AA031154-01A1 None \n", + "2 1R01GM151683-01 None \n", + "3 1U01AI172733-01A1 None \n", + "4 1R61MH135109-01 None \n", + "5 1R01DK135518-01A1 {'hypoplastic left heart syndrome': [3, 0.98, ... \n", + "6 1R01AR082670-01A1 None \n", + "7 1R01CA276461-01A1 None \n", + "8 1R21DA059842-01 None \n", + "9 1K01ES035082-01A1 None \n", + "10 1S10OD034245-01A1 None \n", + "11 1S10OD034378-01A1 None \n", + "12 1R01NS136564-01 {'spinal cord injury': [100, 0.67, 0.74, 'trea... \n", + "13 1R01HL173107-01 None \n", + "14 1R01NS136753-01 {'leigh syndrome': [20, 0.8, 0.76, 'loss of mi... \n", + "15 1R01NS136808-01 None \n", + "16 1R21NS136951-01 None \n", + "17 1R21NS137101-01 None \n", + "18 1R01NS133187-01A1 None \n", + "19 1R01CA282733-01A1 None \n", + "20 1R01MH133669-01A1 None \n", + "21 1R21DA058121-01A1 None \n", + "22 1R21CA283583-01A1 {'american trypanosomiasis': [2, 0.79, 0.17, '... \n", + "23 1R21TR005017-01 None \n", + "24 1R21TR005032-01 None \n", + "25 1R21NS134170-01A1 None \n", + "26 1R01DA060466-01 None \n", + "27 1R13ES036450-01 None \n", + "28 1R13NS135891-01A1 {'huntington disease': [10, 0.91, 0.85, 'proje... \n", + "29 1R21DK138855-01A1 None " + ] + }, + "execution_count": 61, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "Abstract1 0 5 12 14 22" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "eDPjjSNUjuvz" + }, + "outputs": [], + "source": [ + "Abstract = pd.read_csv('/content/abstract.csv')#/content/abstract.csv')\n", + "Abstract1=Abstract[:100]\n", + "#Abstract1.columns\n", + "Abstract1['Gard_name_0.6']=Abstract1.apply(lambda x: grad_id(x['title'],None,x['abstract']), axis=1)" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "Su43IWALRsGf" + }, + "outputs": [], + "source": [ + "#Abstract = pd.read_csv('/content/Sample_2.csv')#/content/abstract.csv')\n", + "#Abstract1=Abstract#[:100]\n", + "#Abstract1.columns\n", + "Abstract['Gard_name_(dis/syn_not_removed)']=Abstract.apply(lambda x: grad_id(x['project_title'],x['phr_text'],x['abstract_text']), axis=1)" + ] + }, + { + "cell_type": "markdown", + "metadata": { + "id": "8mXrU2Dphzrg" + }, + "source": [] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "xhlC18mnG7Cm" + }, + "outputs": [], + "source": [ + "Abstract1=Abstract.copy()" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "t8wNTJOzp35S" + }, + "outputs": [], + "source": [ + "Abstract1=Abstract\n", + "Abstract1['are_similar?'] = (Abstract1['Gard_name_(dis/syn_removed)'] == Abstract1['Gard_name_(dis/syn_not_removed)']) | (Abstract1['Gard_name_(dis/syn_removed)'].isnull() & Abstract1['Gard_name_(dis/syn_not_removed)'].isnull())" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 964 + }, + "id": "7i8SI3MniL2z", + "outputId": "095def65-726a-4b4b-def0-0ae877b343ca" + }, + "outputs": [ + { + "data": { + "application/vnd.google.colaboratory.intrinsic+json": { + "summary": "{\n \"name\": \"Abstract\",\n \"rows\": 1000,\n \"fields\": [\n {\n \"column\": \"abstract_text\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 964,\n \"samples\": [\n \"PROJECT SUMMARY\\nAgitation is defined as excessive psychomotor activity leading to aggressive and violent behavior in patients\\nand is often due to exacerbation of underlying serious mental illnesses. Those presenting with agitation in the\\nemergency setting represent the most marginalized populations. Coercive measures like physical restraints are\\ncurrently used routinely on agitated individuals, but are associated with physical trauma, apnea, and death.\\nRecent studies have shown disproportionate use of physical restraint on Black patients, those who are\\nhomeless, and those with public or no insurance. At the same time, healthcare workers experience stress and\\nburnout from episodes of workplace violence by agitated patients, leading to reinforcement of negative\\nattitudes and bias towards marginalized individuals. Interventions to address disparities during psychiatric\\ncrises have been hindered by increased boarding, overcrowding, and other system-based challenges. System\\ndynamics modeling is a rigorous method that uses advanced mathematical equations and simulations to study\\ncomplex systems and identify causal structures that evolve over time. This approach allows us to measure,\\npredict, and improve health equity and value during agitation care. Our overall objective is to apply systems\\ndynamics modeling to identify and quantify modifiable targets for reducing disparities in agitation management\\nand assess benefits and costs of potential interventions addressing those targets across diverse populations\\nand marginalized groups. To achieve this objective, we will use group model building focus groups (Aim 1) to\\nadapt our existing qualitative model of agitation care and merge key insights from clinicians, administrators,\\nsecurity/police, minority patients, and prehospital services to focus on health equity. We will then create a\\nmathematical model and incorporate existing datasets of patient records, staff injuries, and survey responses\\ninto the model, calibrating quantitative outcomes of restraint use and staff assault and validating parameters of\\nthe relationships established in the qualitative model (Aim 2). Finally, this expanded and validated model will\\nguide participatory design sessions with stakeholders in an iterative process where computational simulations\\nfor outcomes on equity can be created and predicted in real-time on proposed interventions across three sites\\n(Aim 3). This will allow us to translate research findings from the model into practice to assist hospital\\nleadership in deciding if implementing potential interventions is warranted.\\nThis proposed work will make a positive contribution to mental health research by describing, measuring, and\\npredicting bias and discrimination against minority and socioeconomically disadvantaged individuals with\\npsychiatric emergencies. Our study is highly innovative as it will be the first to address staff safety and patient\\nadvocacy as one unified issue and applies simulation modeling and systems science methods to address the\\nunderstudied topic of agitation management and reduce health disparities in psychiatric emergency care.\",\n \"PROJECT SUMMARY / ABSTRACT\\nAutism spectrum disorder is a neurodevelopmental condition characterized by impairments in social\\nfunctioning and the presence of restricted or repetitive behaviors or interests, including atypical sensory\\nresponse patterns. In addition to these core features, language abilities are one of the most clinically important\\nand heterogeneous features of autism. Language impairment is one of the earliest noted symptoms,\\nassociated with functional outcomes, and less responsive to treatment than other behavioral domains.\\nCritically, it remains unclear what contributes to these variable language trajectories; competing theoretical\\nframeworks propose either low-level perceptual or higher-order social influences. Though evidence suggests\\natypical auditory processing at the neural level as a potential mechanism disrupting language in autism, no\\nprior work to date has systematically examined these brain-behavior relationships. The current project will test\\ntheoretically driven hypotheses using functional magnetic resonance imaging (fMRI) to clarify the neural\\nfeatures of speech and nonspeech auditory discrimination in autism and probe for relationships with language;\\nresults have the potential to inform language interventions in autism. Fifty adults (25 autistic, 25 neurotypical;\\nNT) will complete a repetition suppression fMRI design to achieve three Specific Aims: (1) Contrast behavioral\\nperformance and neural processing of nonspeech tone discrimination in autism vs NT; (2) Contrast behavioral\\nperformance and neural processing of speech discrimination in autism vs NT; and (3) Examine the predictive\\nrole of neural features and the mediating role of behavioral discrimination abilities for language skills. The\\nproposed research addresses one of NIDCD\\u2019s top research priorities of characterizing the neural circuits\\ninvolved in sensory processing that contribute to communication deficits; the study has the long-term potential\\nto improve language outcomes in autism. Training Plan: The individually tailored training plan dovetails with\\nresearch activities and includes methodological training in neuroimaging and statistics; conceptual education in\\nlanguage, autism, cognitive neuroscience, and the responsible conduct of research; and professional\\ndevelopment in scientific and community settings. Proposed activities include coursework, interdisciplinary\\nmentorship, methodological workshops, professional seminars, community outreach activities, conference\\npresentations, and manuscript development. Environment: The applicant\\u2019s mentorship team has a proven\\nrecord of NIH funding, including collaborations between them. The University of Connecticut is a Carnegie\\nResearch I public institution and the Department of Psychological Sciences is ranked in the top 10 for U.S.\\ngrant funding. UConn boasts a large community of interdisciplinary researchers within the language sciences\\nand houses a research-dedicated neuroimaging center that prioritizes supporting and training graduate-level\\nresearchers. The applicant is ideally situated to accomplish the current fellowship proposal.\",\n \"SUMMARY: Circadian rhythm is important for human physiology and health. Human body temperature\\nincreases during wakefulness and decreases during sleep. This body temperature rhythm (BTR) is a robust\\noutput of the circadian clock and is fundamental for maintaining homeostasis and its related processes, such\\nas sleep and metabolism. The long-term goal of our research is to understand the molecular and neural\\nmechanisms by which BTR is regulated and how BTR is related to sleep regulation.\\n To understand the mechanisms of BTR, we use Drosophila. This model has provided many strong\\ncontributions to studying the circadian clock, including the discovery of conserved mammalian circadian clock\\ngenes and mechanisms. We demonstrated that Drosophila exhibits a circadian rhythm of temperature\\npreference, referred to as temperature preference rhythms (TPR). While mammals regulate BTR by generating\\nor losing internal heat, small ectotherms, including Drosophila, regulate BTR via selecting an environmental\\ntemperature. As flies are small ectotherms, their body temperature is close to that of the surrounding\\nenvironment. Thus, Drosophila TPR produces BTR in a similar pattern as mammals. Furthermore, our study\\nprovides the first evidence that fly DH31R and its mammalian homolog, Calcitonin receptor, CALCR, regulate\\nBTR. Thus, understanding fly TPR will provide fundamental insights into the molecular and neural mechanisms\\nthat control BTR in mammals.\\n Using fly TPR, in this study, we will address an outstanding knowledge gap regarding how\\ntemperature fluctuations are determined and how the preferred temperature is set at a specific time of day. We\\nwill elucidate the molecular and neural mechanisms underlying TPR. We will examine the distinct functions of\\neach pacemaker by manipulating their activities and neuropeptide-receptor signals which could control\\ntemperature fluctuation or temperature setpoint. We will clarify the mechanistic difference between TPR and\\nlocomotor activity, focusing on a noncanonical pathway that we anticipate to be a specific regulator of TPR.\\nThis study will unveil the unique neural circuits controlling fly TPR. Further, we will take advantage of fly TPR\\nand determine the mechanistic link between temperature change and sleep; their relationship has been well\\nknown, but the underpinning molecular mechanism has been a big mystery. This study will facilitate an\\nunderstanding the regulatory mechanisms underlying BTR and its relationship to sleep.\\n We have shown that parallel mechanistic functions between mammalian BTR and fly TPR; thus, the\\nbasic foundation of BTR is aligned with fly TPR. The outcome of this R35 proposal will facilitate to reveal BTR\\nmechanisms in mammals and lend actionable insights into the treatment of circadian clock diseases, sleep\\nproblems, and the health of night-shift workers.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_title\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 960,\n \"samples\": [\n \"Targeting myocardial fibrosis with a novel noncoding RNA in Duchenne muscular dystrophy\",\n \"Methods and technologies for chemical synthesis of glycans\",\n \"Development of Small Molecule Biomarker-Based Diagnostics for Bacterial Vaginosis\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"phr_text\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 924,\n \"samples\": [\n \"Project Narrative\\nTargeting RNA polymerase I is a potentially effective therapeutic strategy for the treatment\\nof many cancer types. This study investigates and identifies mechanisms of therapeutic\\nresistance resulting from rewiring of protein translation. The alterations in translation and\\nribosome function will be determined to facilitate new therapeutic strategies to overcome\\nthis resistance.\",\n \"Project Narrative\\nOur gut microbial symbionts contribute to our overall metabolism, impacting physiological processes and\\ndisease susceptibility. The proposed studies aim to further explore how gut microbes, through nutritional\\ninputs like a high protein diet, generate a specific metabolite that impacts heart physiology, and susceptibility\\nfor development of heart failure.\",\n \"% ! % % # #\\n! % % $ % \\n ! % $ # ! %\\n # \\\" ! \\n ! \\n \\\" % \\\" ! ! ! \\n% ! # % % \\n !\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_detail_url\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 969,\n \"samples\": [\n \"https://reporter.nih.gov/project-details/10762193\",\n \"https://reporter.nih.gov/project-details/10829613\",\n \"https://reporter.nih.gov/project-details/10780787\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"pref_terms\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 944,\n \"samples\": [\n \"ALCAM gene;Activated-Leukocyte Cell Adhesion Molecule;Adhesives;Adverse event;Affinity;Aftercare;Antibodies;Antigen-Presenting Cells;Autoimmune;Autoimmune Diseases;Autoimmunity;Binding;Biological Assay;Blocking Antibodies;Breast;CD3 Antigens;CD6 antigen;CD8-Positive T-Lymphocytes;CTLA4 gene;Cancer cell line;Cell Communication;Cell Death;Cell Line;Cell Survival;Cell surface;Cell-Mediated Cytolysis;Cells;Cellular biology;Clinical;Clinical Trials;Coculture Techniques;Color;Cytolysis;Data;Disease;Exclusion;Flow Cytometry;Gene Expression;Gene Expression Alteration;Genetic;Human;Immune;Immune checkpoint inhibitor;Immunodeficient Mouse;Immunotherapy;In Vitro;In complete remission;Infiltration;Inflammatory;Interruption;Licensing;Ligands;Lung;Lymphocyte;Lymphocyte Activation;Malignant Neoplasms;Malignant neoplasm of prostate;Mature T-Lymphocyte;Mediating;Membrane Glycoproteins;Modeling;Monoclonal Antibodies;Multiple Sclerosis;Mus;Natural Killer Cells;Neoplasm Metastasis;Non-Small-Cell Lung Carcinoma;Organ;Pathogenicity;Patients;Pattern;Precipitation;Property;Prostate;Recovery;Resistance;Rheumatoid Arthritis;Role;SCID Beige Mouse;SRCR proteins;Structure;Surface;System;T-Cell Depletion;T-Lymphocyte;Testing;Time;Tumor-Infiltrating Lymphocytes;Uveitis;Xenograft procedure;anti-cancer;autoimmune toxicity;cancer cell;cancer immunotherapy;cancer survival;cancer therapy;cell killing;checkpoint inhibition;checkpoint therapy;effective therapy;efficacy evaluation;experience;experimental study;humanized mouse;imaging system;immunoregulation;in vivo;malignant breast neoplasm;migration;mouse model;mutant;novel strategies;programmed cell death ligand 1;programmed cell death protein 1;prostate cancer cell;prostate cancer cell line;receptor;response;single-cell RNA sequencing;triple-negative invasive breast carcinoma;tumor;tumor microenvironment\",\n \"3-Dimensional;Acceleration;Acute;Alginates;Animal Model;Behavior;Biochemical;Biocompatible Materials;Biological Assay;Biological Models;Breathing;Calcium;Cartilage;Catabolic Process;Cell Volumes;Cells;Cellularity;Chemicals;Chondrocytes;Chondrogenesis;Clinical;Cues;Cyclodextrins;Data;Defect;Degenerative polyarthritis;Deposition;Disease;Doctor of Philosophy;Dose;Elasticity;Exhibits;Faculty;Histology;Hydrogels;Image;Imaging Device;In Vitro;Individual;Injectable;Injury;Knowledge;Life;Ligands;Medical Imaging;Mentors;Mentorship;Mesenchymal Stem Cells;Methods;Modeling;Morbidity - 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0PROJECT SUMMARY\\n Glaucoma is the leading caus...A Novel Non-Drug, Non-Surgical Hydrogel-Based ...PROJECT NARRATIVE\\nGlaucoma is one of the lead...https://reporter.nih.gov/project-details/10680039Adherence;Adverse effects;Affect;Animal Model;...106800391F30EY035173-01NoneNoneTrue
1SUMMARY\\nExercise is an extremely effective li...Intestinal regulation of exercise performanceNARRATIVE\\nExercise is an extremely efficient ...https://reporter.nih.gov/project-details/10781117Address;Afferent Neurons;Amides;Animals;Automo...107811171R01NS134976-01NoneNoneTrue
2Abstract\\nSystemic sclerosis (SSc) is a rare, ...Planning for a Multisite Efficacy Trial of Upp...Project Narrative\\nThe purpose of this propose...https://reporter.nih.gov/project-details/10794511Acceleration;Affect;Applications Grants;Autoim...107945111R34AR082551-01A1{'systemic sclerosis': [1.0, 0.8300272226333618]}{'systemic sclerosis': [1.0, 0.8300272226333618]}True
3PROJECT SUMMARY/ ABSTRACT\\nHematopoietic stem ...Cellular barcoding of developmental hematopoiesisPROJECT NARRATIVE\\nGenerating hematopoietic st...https://reporter.nih.gov/project-details/10995484Adult;Anatomy;Aorta;Area;Automobile Driving;Ba...109954844R00HL164969-03{'lymphoma': [0.9, 0.7282528877258301]}{'lymphoma': [0.9, 0.7282528877258301]}True
4Project Summary\\n Targeted covalent inhibitors...Expanding the targetable landscape in cancer w...Project Narrative\\n Many mutations (about 6%) ...https://reporter.nih.gov/project-details/10863278Affinity Chromatography;Amino Acids;Biological...108632781R21CA280163-01A1NoneNoneTrue
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995PROJECT SUMMARY/ABSTRACT\\nA major challenge in...Establishing the effect of morphogens at the s...PROJECT NARRATIVE\\nDuring the onset of vertebr...https://reporter.nih.gov/project-details/10779240Address;Architecture;Attention;Behavioral Assa...107792401R01GM152611-01NoneNoneTrue
996Project Summary/Abstract\\nThe avascular cornea...Galectin-3 and corneal nerve regenerationNarrative\\nThis application centers on a major...https://reporter.nih.gov/project-details/10779801Adverse effects;Afferent Neurons;Affinity;Anat...107798011R01EY035702-01{'neurotrophic keratopathy': [0.7, 0.801246285...{'neurotrophic keratopathy': [0.7, 0.801246285...True
997Project Summary\\nThis proposal tests the funda...Circadian interventions against glioblastomaProject Narrative\\nGlioblastoma (GBM) is a dea...https://reporter.nih.gov/project-details/10779902ARNTL gene;Acceleration;Affect;Aftercare;Apopt...107799021R01NS134885-01{'glioblastoma': [1.0, 0.8965370655059814]}{'glioblastoma': [1.0, 0.8965370655059814]}True
998Many bacterial pathogens deploy specialized se...Structure and Function of Porphyromonas gingiv...PROJECT NARRATIVE\\nPorphyromonas gingivalis is...https://reporter.nih.gov/project-details/10780744Architecture;Bacteria;Bacterial Infections;Bac...107807441R01DE033452-01NoneNoneTrue
999Project Summary\\nMany studies have highlighted...Molecular pathogenesis of COVID-19-associated ...Project Narrative\\nSARS-CoV-2 is the virus res...https://reporter.nih.gov/project-details/107818052019-nCoV;ACE2;Address;Androgens;Automobile Dr...107818051R01HL172048-01{'severe acute respiratory syndrome': [0.9, 0....{'severe acute respiratory syndrome': [0.9, 0....True
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Those presenting with agitation in the\\nemergency setting represent the most marginalized populations. Coercive measures like physical restraints are\\ncurrently used routinely on agitated individuals, but are associated with physical trauma, apnea, and death.\\nRecent studies have shown disproportionate use of physical restraint on Black patients, those who are\\nhomeless, and those with public or no insurance. At the same time, healthcare workers experience stress and\\nburnout from episodes of workplace violence by agitated patients, leading to reinforcement of negative\\nattitudes and bias towards marginalized individuals. Interventions to address disparities during psychiatric\\ncrises have been hindered by increased boarding, overcrowding, and other system-based challenges. System\\ndynamics modeling is a rigorous method that uses advanced mathematical equations and simulations to study\\ncomplex systems and identify causal structures that evolve over time. This approach allows us to measure,\\npredict, and improve health equity and value during agitation care. Our overall objective is to apply systems\\ndynamics modeling to identify and quantify modifiable targets for reducing disparities in agitation management\\nand assess benefits and costs of potential interventions addressing those targets across diverse populations\\nand marginalized groups. To achieve this objective, we will use group model building focus groups (Aim 1) to\\nadapt our existing qualitative model of agitation care and merge key insights from clinicians, administrators,\\nsecurity/police, minority patients, and prehospital services to focus on health equity. We will then create a\\nmathematical model and incorporate existing datasets of patient records, staff injuries, and survey responses\\ninto the model, calibrating quantitative outcomes of restraint use and staff assault and validating parameters of\\nthe relationships established in the qualitative model (Aim 2). Finally, this expanded and validated model will\\nguide participatory design sessions with stakeholders in an iterative process where computational simulations\\nfor outcomes on equity can be created and predicted in real-time on proposed interventions across three sites\\n(Aim 3). This will allow us to translate research findings from the model into practice to assist hospital\\nleadership in deciding if implementing potential interventions is warranted.\\nThis proposed work will make a positive contribution to mental health research by describing, measuring, and\\npredicting bias and discrimination against minority and socioeconomically disadvantaged individuals with\\npsychiatric emergencies. Our study is highly innovative as it will be the first to address staff safety and patient\\nadvocacy as one unified issue and applies simulation modeling and systems science methods to address the\\nunderstudied topic of agitation management and reduce health disparities in psychiatric emergency care.\",\n \"PROJECT SUMMARY / ABSTRACT\\nAutism spectrum disorder is a neurodevelopmental condition characterized by impairments in social\\nfunctioning and the presence of restricted or repetitive behaviors or interests, including atypical sensory\\nresponse patterns. In addition to these core features, language abilities are one of the most clinically important\\nand heterogeneous features of autism. Language impairment is one of the earliest noted symptoms,\\nassociated with functional outcomes, and less responsive to treatment than other behavioral domains.\\nCritically, it remains unclear what contributes to these variable language trajectories; competing theoretical\\nframeworks propose either low-level perceptual or higher-order social influences. Though evidence suggests\\natypical auditory processing at the neural level as a potential mechanism disrupting language in autism, no\\nprior work to date has systematically examined these brain-behavior relationships. The current project will test\\ntheoretically driven hypotheses using functional magnetic resonance imaging (fMRI) to clarify the neural\\nfeatures of speech and nonspeech auditory discrimination in autism and probe for relationships with language;\\nresults have the potential to inform language interventions in autism. Fifty adults (25 autistic, 25 neurotypical;\\nNT) will complete a repetition suppression fMRI design to achieve three Specific Aims: (1) Contrast behavioral\\nperformance and neural processing of nonspeech tone discrimination in autism vs NT; (2) Contrast behavioral\\nperformance and neural processing of speech discrimination in autism vs NT; and (3) Examine the predictive\\nrole of neural features and the mediating role of behavioral discrimination abilities for language skills. The\\nproposed research addresses one of NIDCD\\u2019s top research priorities of characterizing the neural circuits\\ninvolved in sensory processing that contribute to communication deficits; the study has the long-term potential\\nto improve language outcomes in autism. Training Plan: The individually tailored training plan dovetails with\\nresearch activities and includes methodological training in neuroimaging and statistics; conceptual education in\\nlanguage, autism, cognitive neuroscience, and the responsible conduct of research; and professional\\ndevelopment in scientific and community settings. Proposed activities include coursework, interdisciplinary\\nmentorship, methodological workshops, professional seminars, community outreach activities, conference\\npresentations, and manuscript development. Environment: The applicant\\u2019s mentorship team has a proven\\nrecord of NIH funding, including collaborations between them. The University of Connecticut is a Carnegie\\nResearch I public institution and the Department of Psychological Sciences is ranked in the top 10 for U.S.\\ngrant funding. UConn boasts a large community of interdisciplinary researchers within the language sciences\\nand houses a research-dedicated neuroimaging center that prioritizes supporting and training graduate-level\\nresearchers. The applicant is ideally situated to accomplish the current fellowship proposal.\",\n \"SUMMARY: Circadian rhythm is important for human physiology and health. Human body temperature\\nincreases during wakefulness and decreases during sleep. This body temperature rhythm (BTR) is a robust\\noutput of the circadian clock and is fundamental for maintaining homeostasis and its related processes, such\\nas sleep and metabolism. The long-term goal of our research is to understand the molecular and neural\\nmechanisms by which BTR is regulated and how BTR is related to sleep regulation.\\n To understand the mechanisms of BTR, we use Drosophila. This model has provided many strong\\ncontributions to studying the circadian clock, including the discovery of conserved mammalian circadian clock\\ngenes and mechanisms. We demonstrated that Drosophila exhibits a circadian rhythm of temperature\\npreference, referred to as temperature preference rhythms (TPR). While mammals regulate BTR by generating\\nor losing internal heat, small ectotherms, including Drosophila, regulate BTR via selecting an environmental\\ntemperature. As flies are small ectotherms, their body temperature is close to that of the surrounding\\nenvironment. Thus, Drosophila TPR produces BTR in a similar pattern as mammals. Furthermore, our study\\nprovides the first evidence that fly DH31R and its mammalian homolog, Calcitonin receptor, CALCR, regulate\\nBTR. Thus, understanding fly TPR will provide fundamental insights into the molecular and neural mechanisms\\nthat control BTR in mammals.\\n Using fly TPR, in this study, we will address an outstanding knowledge gap regarding how\\ntemperature fluctuations are determined and how the preferred temperature is set at a specific time of day. We\\nwill elucidate the molecular and neural mechanisms underlying TPR. We will examine the distinct functions of\\neach pacemaker by manipulating their activities and neuropeptide-receptor signals which could control\\ntemperature fluctuation or temperature setpoint. We will clarify the mechanistic difference between TPR and\\nlocomotor activity, focusing on a noncanonical pathway that we anticipate to be a specific regulator of TPR.\\nThis study will unveil the unique neural circuits controlling fly TPR. Further, we will take advantage of fly TPR\\nand determine the mechanistic link between temperature change and sleep; their relationship has been well\\nknown, but the underpinning molecular mechanism has been a big mystery. This study will facilitate an\\nunderstanding the regulatory mechanisms underlying BTR and its relationship to sleep.\\n We have shown that parallel mechanistic functions between mammalian BTR and fly TPR; thus, the\\nbasic foundation of BTR is aligned with fly TPR. The outcome of this R35 proposal will facilitate to reveal BTR\\nmechanisms in mammals and lend actionable insights into the treatment of circadian clock diseases, sleep\\nproblems, and the health of night-shift workers.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_title\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 960,\n \"samples\": [\n \"Targeting myocardial fibrosis with a novel noncoding RNA in Duchenne muscular dystrophy\",\n \"Methods and technologies for chemical synthesis of glycans\",\n \"Development of Small Molecule Biomarker-Based Diagnostics for Bacterial Vaginosis\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"phr_text\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 924,\n \"samples\": [\n \"Project Narrative\\nTargeting RNA polymerase I is a potentially effective therapeutic strategy for the treatment\\nof many cancer types. This study investigates and identifies mechanisms of therapeutic\\nresistance resulting from rewiring of protein translation. The alterations in translation and\\nribosome function will be determined to facilitate new therapeutic strategies to overcome\\nthis resistance.\",\n \"Project Narrative\\nOur gut microbial symbionts contribute to our overall metabolism, impacting physiological processes and\\ndisease susceptibility. The proposed studies aim to further explore how gut microbes, through nutritional\\ninputs like a high protein diet, generate a specific metabolite that impacts heart physiology, and susceptibility\\nfor development of heart failure.\",\n \"% ! % % # #\\n! % % $ % \\n ! % $ # ! %\\n # \\\" ! \\n ! \\n \\\" % \\\" ! ! ! \\n% ! # % % \\n !\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_detail_url\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 969,\n \"samples\": [\n \"https://reporter.nih.gov/project-details/10762193\",\n \"https://reporter.nih.gov/project-details/10829613\",\n \"https://reporter.nih.gov/project-details/10780787\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"pref_terms\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 944,\n \"samples\": [\n \"ALCAM gene;Activated-Leukocyte Cell Adhesion Molecule;Adhesives;Adverse event;Affinity;Aftercare;Antibodies;Antigen-Presenting Cells;Autoimmune;Autoimmune Diseases;Autoimmunity;Binding;Biological Assay;Blocking Antibodies;Breast;CD3 Antigens;CD6 antigen;CD8-Positive T-Lymphocytes;CTLA4 gene;Cancer cell line;Cell Communication;Cell Death;Cell Line;Cell Survival;Cell surface;Cell-Mediated Cytolysis;Cells;Cellular biology;Clinical;Clinical Trials;Coculture Techniques;Color;Cytolysis;Data;Disease;Exclusion;Flow Cytometry;Gene Expression;Gene Expression Alteration;Genetic;Human;Immune;Immune checkpoint inhibitor;Immunodeficient Mouse;Immunotherapy;In Vitro;In complete remission;Infiltration;Inflammatory;Interruption;Licensing;Ligands;Lung;Lymphocyte;Lymphocyte Activation;Malignant Neoplasms;Malignant neoplasm of prostate;Mature T-Lymphocyte;Mediating;Membrane Glycoproteins;Modeling;Monoclonal Antibodies;Multiple Sclerosis;Mus;Natural Killer Cells;Neoplasm Metastasis;Non-Small-Cell Lung Carcinoma;Organ;Pathogenicity;Patients;Pattern;Precipitation;Property;Prostate;Recovery;Resistance;Rheumatoid Arthritis;Role;SCID Beige Mouse;SRCR proteins;Structure;Surface;System;T-Cell Depletion;T-Lymphocyte;Testing;Time;Tumor-Infiltrating Lymphocytes;Uveitis;Xenograft procedure;anti-cancer;autoimmune toxicity;cancer cell;cancer immunotherapy;cancer survival;cancer therapy;cell killing;checkpoint inhibition;checkpoint therapy;effective therapy;efficacy evaluation;experience;experimental study;humanized mouse;imaging system;immunoregulation;in vivo;malignant breast neoplasm;migration;mouse model;mutant;novel strategies;programmed cell death ligand 1;programmed cell death protein 1;prostate cancer cell;prostate cancer cell line;receptor;response;single-cell RNA sequencing;triple-negative invasive breast carcinoma;tumor;tumor microenvironment\",\n \"3-Dimensional;Acceleration;Acute;Alginates;Animal Model;Behavior;Biochemical;Biocompatible Materials;Biological Assay;Biological Models;Breathing;Calcium;Cartilage;Catabolic Process;Cell Volumes;Cells;Cellularity;Chemicals;Chondrocytes;Chondrogenesis;Clinical;Cues;Cyclodextrins;Data;Defect;Degenerative polyarthritis;Deposition;Disease;Doctor of Philosophy;Dose;Elasticity;Exhibits;Faculty;Histology;Hydrogels;Image;Imaging Device;In Vitro;Individual;Injectable;Injury;Knowledge;Life;Ligands;Medical Imaging;Mentors;Mentorship;Mesenchymal Stem Cells;Methods;Modeling;Morbidity - disease rate;Natural regeneration;Optical Coherence Tomography;Outcome;Patients;Polymer Chemistry;Polymers;Positioning Attribute;Procedures;Production;Property;Quality of life;Rattus;Relaxation;Reporting;Risk;Scientist;Signal Transduction;Site;Slide;Speed;Stress;Structure;System;Testing;Time;Tissue Engineering;Tissues;Translations;Vertebral column;Work;animal imaging;articular cartilage;cartilage regeneration;cartilage repair;covalent bond;crosslink;design;efficacy validation;experimental study;hydrogel scaffold;improved;improved mobility;in vivo;in vivo regeneration;innovation;mechanotransduction;minimally invasive;novel;osteochondral tissue;prevent;regenerative therapy;repaired;response;self-renewal;stem cell delivery;stem cell niche;stem cells;tool;viscoelasticity\",\n \"3-Dimensional;Address;Advanced Development;Animal Cancer Model;Binding;Biodistribution;Biological;Biological Assay;Breast Cancer Model;Calcium;Cancer Etiology;Castration;Cells;Cessation of life;Clinical;DNA Damage;Diffusion;Disease Progression;Disseminated Malignant Neoplasm;Drug Kinetics;Encapsulated;Excision;Exhibits;Formulation;Goals;HepG2;Hepatic artery;Human;Image;In Vitro;Ionizing radiation;Label;Liposomes;Liver;Liver neoplasms;Magnetic Resonance Imaging;Magnetism;Malignant Epithelial Cell;Malignant Neoplasms;Malignant neoplasm of liver;Mediating;Medical;Medical Imaging;Membrane;Mesenchymal Stem Cells;Metastatic Neoplasm to the Bone;Metastatic Prostate Cancer;Metastatic breast cancer;Micrometastasis;Modality;Modification;Nature;Neoplasm Metastasis;Organ;Pathway interactions;Patients;Penetration;Pharmaceutical Preparations;Primary Malignant Neoplasm of Liver;Primary carcinoma of the liver cells;Property;Radiation therapy;Radioembolization;Radiolabeled;Radiopharmaceuticals;Research;Residual Neoplasm;Resistance;Resolution;Safety;Site;Soft Tissue Neoplasms;Solid;Survival Rate;Testing;Therapeutic;Therapeutic Agents;Therapeutic Embolization;Tissues;Toxic effect;Transplantation;Treatment Efficacy;Tumor Burden;Unresectable;Vascularization;Visualization;alternative treatment;bioluminescence imaging;biomaterial compatibility;blood-brain tumor barrier;cancer cell;cell killing;conventional therapy;curative treatments;cytotoxic;cytotoxicity;dosimetry;effective therapy;exosome;imaging modality;immunoregulation;improved;in vivo;innovation;iron oxide nanoparticle;irradiation;liver cancer model;liver cancer patient;mimetics;molecular imaging;monolayer;mouse model;nanocarrier;nanoparticle;nanotechnology platform;nanotheranostics;neoplastic cell;novel;palliative;particle;receptor;resistance mechanism;stem cell exosomes;success;superparamagnetism;systemic toxicity;targeted delivery;theranostics;tomography;tool;transcatheter arterial chemoembolization;treatment strategy;tumor;tumor growth;tumor vascular supply\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"appl_id\",\n \"properties\": {\n \"dtype\": \"number\",\n \"std\": 65007,\n \"min\": 10535517,\n \"max\": 11033040,\n \"num_unique_values\": 969,\n \"samples\": [\n 10762193,\n 10829613,\n 10780787\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_num\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 929,\n \"samples\": [\n \"1R36DA058062-01A1\",\n \"1R21ES036033-01\",\n \"1R01HL167936-01A1\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Gard_name_(dis/syn_removed)\",\n \"properties\": {\n \"dtype\": \"object\",\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Gard_name_(dis/syn_not_removed)\",\n \"properties\": {\n \"dtype\": \"object\",\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"are_similar?\",\n \"properties\": {\n \"dtype\": \"boolean\",\n \"num_unique_values\": 2,\n \"samples\": [\n false,\n true\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Synonyms_(dis/syn_removed)\",\n \"properties\": {\n \"dtype\": \"object\",\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Synonyms_(dis/syn_not_removed)\",\n \"properties\": {\n \"dtype\": \"object\",\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n }\n ]\n}", + "type": "dataframe", + "variable_name": "Abstract" + }, + "text/html": [ + "\n", + "
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abstract_textproject_titlephr_textproject_detail_urlpref_termsappl_idproject_numGard_name_(dis/syn_removed)Gard_name_(dis/syn_not_removed)are_similar?Synonyms_(dis/syn_removed)Synonyms_(dis/syn_not_removed)
0PROJECT SUMMARY\\n Glaucoma is the leading caus...A Novel Non-Drug, Non-Surgical Hydrogel-Based ...PROJECT NARRATIVE\\nGlaucoma is one of the lead...https://reporter.nih.gov/project-details/10680039Adherence;Adverse effects;Affect;Animal Model;...106800391F30EY035173-01NoneNoneTrue{}{}
1SUMMARY\\nExercise is an extremely effective li...Intestinal regulation of exercise performanceNARRATIVE\\nExercise is an extremely efficient ...https://reporter.nih.gov/project-details/10781117Address;Afferent Neurons;Amides;Animals;Automo...107811171R01NS134976-01NoneNoneTrue{}{}
2Abstract\\nSystemic sclerosis (SSc) is a rare, ...Planning for a Multisite Efficacy Trial of Upp...Project Narrative\\nThe purpose of this propose...https://reporter.nih.gov/project-details/10794511Acceleration;Affect;Applications Grants;Autoim...107945111R34AR082551-01A1{'systemic sclerosis': [1.0, 0.8300272226333618]}{'systemic sclerosis': [1.0, 0.8300272226333618]}True{'systemic sclerosis': ['systemic scleroderma'...{'systemic sclerosis': ['systemic scleroderma'...
3PROJECT SUMMARY/ ABSTRACT\\nHematopoietic stem ...Cellular barcoding of developmental hematopoiesisPROJECT NARRATIVE\\nGenerating hematopoietic st...https://reporter.nih.gov/project-details/10995484Adult;Anatomy;Aorta;Area;Automobile Driving;Ba...109954844R00HL164969-03{'lymphoma': [0.9, 0.7282528877258301]}{'lymphoma': [0.9, 0.7282528877258301]}True{'lymphoma': ['lymphoma', 'lymphoma']}{'lymphoma': ['lymphoma', 'lymphoma']}
4Project Summary\\n Targeted covalent inhibitors...Expanding the targetable landscape in cancer w...Project Narrative\\n Many mutations (about 6%) ...https://reporter.nih.gov/project-details/10863278Affinity Chromatography;Amino Acids;Biological...108632781R21CA280163-01A1NoneNoneTrue{}{}
.......................................
995PROJECT SUMMARY/ABSTRACT\\nA major challenge in...Establishing the effect of morphogens at the s...PROJECT NARRATIVE\\nDuring the onset of vertebr...https://reporter.nih.gov/project-details/10779240Address;Architecture;Attention;Behavioral Assa...107792401R01GM152611-01NoneNoneTrue{}{}
996Project Summary/Abstract\\nThe avascular cornea...Galectin-3 and corneal nerve regenerationNarrative\\nThis application centers on a major...https://reporter.nih.gov/project-details/10779801Adverse effects;Afferent Neurons;Affinity;Anat...107798011R01EY035702-01{'neurotrophic keratopathy': [0.7, 0.801246285...{'neurotrophic keratopathy': [0.7, 0.801246285...True{'neurotrophic keratopathy': ['neurotrophic ke...{'neurotrophic keratopathy': ['neurotrophic ke...
997Project Summary\\nThis proposal tests the funda...Circadian interventions against glioblastomaProject Narrative\\nGlioblastoma (GBM) is a dea...https://reporter.nih.gov/project-details/10779902ARNTL gene;Acceleration;Affect;Aftercare;Apopt...107799021R01NS134885-01{'glioblastoma': [1.0, 0.8965370655059814]}{'glioblastoma': [1.0, 0.8965370655059814]}True{'glioblastoma': ['glioblastoma', 'multiforme ...{'glioblastoma': ['glioblastoma', 'multiforme ...
998Many bacterial pathogens deploy specialized se...Structure and Function of Porphyromonas gingiv...PROJECT NARRATIVE\\nPorphyromonas gingivalis is...https://reporter.nih.gov/project-details/10780744Architecture;Bacteria;Bacterial Infections;Bac...107807441R01DE033452-01NoneNoneTrue{}{}
999Project Summary\\nMany studies have highlighted...Molecular pathogenesis of COVID-19-associated ...Project Narrative\\nSARS-CoV-2 is the virus res...https://reporter.nih.gov/project-details/107818052019-nCoV;ACE2;Address;Androgens;Automobile Dr...107818051R01HL172048-01{'severe acute respiratory syndrome': [0.9, 0....{'severe acute respiratory syndrome': [0.9, 0....True{'severe acute respiratory syndrome': ['severe...{'severe acute respiratory syndrome': ['severe...
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True \n", + "997 {'glioblastoma': [1.0, 0.8965370655059814]} True \n", + "998 None True \n", + "999 {'severe acute respiratory syndrome': [0.9, 0.... True \n", + "\n", + " Synonyms_(dis/syn_removed) \\\n", + "0 {} \n", + "1 {} \n", + "2 {'systemic sclerosis': ['systemic scleroderma'... \n", + "3 {'lymphoma': ['lymphoma', 'lymphoma']} \n", + "4 {} \n", + ".. ... \n", + "995 {} \n", + "996 {'neurotrophic keratopathy': ['neurotrophic ke... \n", + "997 {'glioblastoma': ['glioblastoma', 'multiforme ... \n", + "998 {} \n", + "999 {'severe acute respiratory syndrome': ['severe... \n", + "\n", + " Synonyms_(dis/syn_not_removed) \n", + "0 {} \n", + "1 {} \n", + "2 {'systemic sclerosis': ['systemic scleroderma'... \n", + "3 {'lymphoma': ['lymphoma', 'lymphoma']} \n", + "4 {} \n", + ".. ... \n", + "995 {} \n", + "996 {'neurotrophic keratopathy': ['neurotrophic ke... \n", + "997 {'glioblastoma': ['glioblastoma', 'multiforme ... \n", + "998 {} \n", + "999 {'severe acute respiratory syndrome': ['severe... \n", + "\n", + "[1000 rows x 12 columns]" + ] + }, + "execution_count": 69, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "def get_syn(x):\n", + " F = dict()\n", + " if type(x) == dict :#and isinstance(x, list) and len(x) > 0:\n", + " for i in x: #x[0]\n", + " F[i] = Gard['Synonyms_sw_bow'][Gard['GardName'] == i].values[0]+ Gard['Synonyms_sw_stem_bow'][Gard['GardName'] == i].values[0]\n", + "\n", + " return F\n", + "#Synonyms_sw_bow\n", + "#Synonyms_sw_stem_bow\n", + "#'Synonyms_sw'\n", + "#'Synonyms_sw_stem'\n", + "\n", + "Abstract1['Synonyms_(dis/syn_removed)'] = Abstract1['Gard_name_(dis/syn_removed)'].apply(lambda x: get_syn(x))\n", + "Abstract1['Synonyms_(dis/syn_not_removed)'] = Abstract1['Gard_name_(dis/syn_not_removed)'].apply(lambda x: get_syn(x))\n", + "Abstract1" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "qE83iBvqHeP2", + "outputId": "72b959cd-eb82-4f0e-f121-8a65145f62e0" + }, + "outputs": [ + { + "data": { + "text/plain": [ + "{'lymphoma': [0.9, 0.7282528877258301]}" + ] + }, + "execution_count": 75, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "Abstract1['Gard_name_(dis/syn_not_removed)'][3]" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "IBdY4BNeI8xk" + }, + "outputs": [], + "source": [ + "import pandas as pd\n", + "\n", + "# Function to extract values from dictionary and create new columns\n", + "def extract_values(row):\n", + " values = row['Gard_name_(dis/syn_not_removed)']\n", + " new_columns = {}\n", + " if values is not None:\n", + " for i, (key, val) in enumerate(values.items(), start=1):\n", + " new_columns[f'col_{i}_1'] = val[0]\n", + " new_columns[f'col_{i}_2'] = val[1] if len(val) > 1 else None\n", + " else:\n", + " for i in range(1, 5): # Adjust according to the number of expected columns\n", + " new_columns[f'col_{i}_1'] = None\n", + " new_columns[f'col_{i}_2'] = None\n", + " return pd.Series(new_columns)\n", + "\n", + "# Apply the function to each row and concatenate the results\n", + "new_columns_df = Abstract1.apply(extract_values, axis=1)\n", + "df = pd.concat([Abstract1, new_columns_df], axis=1)\n", + "\n", + "df['terms']=df['pref_terms'].apply(lambda x: [term.lower() for term in x.split(';')] if isinstance(x, str) else [])" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 1000 + }, + "id": "UvhTFeEkKRuz", + "outputId": "5c0e252c-efa6-4823-9897-f3b80578b67b" + }, + "outputs": [ + { + "name": "stderr", + "output_type": "stream", + "text": [ + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. 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Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. 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Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. Specify a dtype explicitly to silence this warning.\n", + " return pd.Series(result)\n", + ":16: FutureWarning: The default dtype for empty Series will be 'object' instead of 'float64' in a future version. 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abstract_textproject_titlephr_textproject_detail_urlpref_termsappl_idproject_numGard_name_(dis/syn_removed)Gard_name_(dis/syn_not_removed)are_similar?...GARD_1_not_has_commonGARD_2_not_has_commonGARD_3_not_has_commonGARD_4_not_has_commonGARD_5_not_has_commonGARD_1_has_commonGARD_2_has_commonGARD_3_has_commonGARD_4_has_commonGARD_5_has_common
0PROJECT SUMMARY\\n Glaucoma is the leading caus...A Novel Non-Drug, Non-Surgical Hydrogel-Based ...PROJECT NARRATIVE\\nGlaucoma is one of the lead...https://reporter.nih.gov/project-details/10680039Adherence;Adverse effects;Affect;Animal Model;...106800391F30EY035173-01NoneNoneTrue...NaNNaNNaNNaNNaNNaNNaNNaNNaNNaN
1SUMMARY\\nExercise is an extremely effective li...Intestinal regulation of exercise performanceNARRATIVE\\nExercise is an extremely efficient ...https://reporter.nih.gov/project-details/10781117Address;Afferent Neurons;Amides;Animals;Automo...107811171R01NS134976-01NoneNoneTrue...NaNNaNNaNNaNNaNNaNNaNNaNNaNNaN
2Abstract\\nSystemic sclerosis (SSc) is a rare, ...Planning for a Multisite Efficacy Trial of Upp...Project Narrative\\nThe purpose of this propose...https://reporter.nih.gov/project-details/10794511Acceleration;Affect;Applications Grants;Autoim...107945111R34AR082551-01A1{'systemic sclerosis': [1.0, 0.8300272226333618]}{'systemic sclerosis': [1.0, 0.8300272226333618]}True...FalseNaNNaNNaNNaNFalseNaNNaNNaNNaN
3PROJECT SUMMARY/ ABSTRACT\\nHematopoietic stem ...Cellular barcoding of developmental hematopoiesisPROJECT NARRATIVE\\nGenerating hematopoietic st...https://reporter.nih.gov/project-details/10995484Adult;Anatomy;Aorta;Area;Automobile Driving;Ba...109954844R00HL164969-03{'lymphoma': [0.9, 0.7282528877258301]}{'lymphoma': [0.9, 0.7282528877258301]}True...FalseNaNNaNNaNNaNFalseNaNNaNNaNNaN
4Project Summary\\n Targeted covalent inhibitors...Expanding the targetable landscape in cancer w...Project Narrative\\n Many mutations (about 6%) ...https://reporter.nih.gov/project-details/10863278Affinity Chromatography;Amino Acids;Biological...108632781R21CA280163-01A1NoneNoneTrue...NaNNaNNaNNaNNaNNaNNaNNaNNaNNaN
..................................................................
995PROJECT SUMMARY/ABSTRACT\\nA major challenge in...Establishing the effect of morphogens at the s...PROJECT NARRATIVE\\nDuring the onset of vertebr...https://reporter.nih.gov/project-details/10779240Address;Architecture;Attention;Behavioral Assa...107792401R01GM152611-01NoneNoneTrue...NaNNaNNaNNaNNaNNaNNaNNaNNaNNaN
996Project Summary/Abstract\\nThe avascular cornea...Galectin-3 and corneal nerve regenerationNarrative\\nThis application centers on a major...https://reporter.nih.gov/project-details/10779801Adverse effects;Afferent Neurons;Affinity;Anat...107798011R01EY035702-01{'neurotrophic keratopathy': [0.7, 0.801246285...{'neurotrophic keratopathy': [0.7, 0.801246285...True...FalseNaNNaNNaNNaNFalseNaNNaNNaNNaN
997Project Summary\\nThis proposal tests the funda...Circadian interventions against glioblastomaProject Narrative\\nGlioblastoma (GBM) is a dea...https://reporter.nih.gov/project-details/10779902ARNTL gene;Acceleration;Affect;Aftercare;Apopt...107799021R01NS134885-01{'glioblastoma': [1.0, 0.8965370655059814]}{'glioblastoma': [1.0, 0.8965370655059814]}True...FalseNaNNaNNaNNaNFalseNaNNaNNaNNaN
998Many bacterial pathogens deploy specialized se...Structure and Function of Porphyromonas gingiv...PROJECT NARRATIVE\\nPorphyromonas gingivalis is...https://reporter.nih.gov/project-details/10780744Architecture;Bacteria;Bacterial Infections;Bac...107807441R01DE033452-01NoneNoneTrue...NaNNaNNaNNaNNaNNaNNaNNaNNaNNaN
999Project Summary\\nMany studies have highlighted...Molecular pathogenesis of COVID-19-associated ...Project Narrative\\nSARS-CoV-2 is the virus res...https://reporter.nih.gov/project-details/107818052019-nCoV;ACE2;Address;Androgens;Automobile Dr...107818051R01HL172048-01{'severe acute respiratory syndrome': [0.9, 0....{'severe acute respiratory syndrome': [0.9, 0....True...FalseNaNNaNNaNNaNFalseNaNNaNNaNNaN
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\n" + ], + "text/plain": [ + " abstract_text \\\n", + "0 PROJECT SUMMARY\\n Glaucoma is the leading caus... \n", + "1 SUMMARY\\nExercise is an extremely effective li... \n", + "2 Abstract\\nSystemic sclerosis (SSc) is a rare, ... \n", + "3 PROJECT SUMMARY/ ABSTRACT\\nHematopoietic stem ... \n", + "4 Project Summary\\n Targeted covalent inhibitors... \n", + ".. ... \n", + "995 PROJECT SUMMARY/ABSTRACT\\nA major challenge in... \n", + "996 Project Summary/Abstract\\nThe avascular cornea... \n", + "997 Project Summary\\nThis proposal tests the funda... \n", + "998 Many bacterial pathogens deploy specialized se... \n", + "999 Project Summary\\nMany studies have highlighted... \n", + "\n", + " project_title \\\n", + "0 A Novel Non-Drug, Non-Surgical Hydrogel-Based ... \n", + "1 Intestinal regulation of exercise performance \n", + "2 Planning for a Multisite Efficacy Trial of Upp... \n", + "3 Cellular barcoding of developmental hematopoiesis \n", + "4 Expanding the targetable landscape in cancer w... \n", + ".. ... \n", + "995 Establishing the effect of morphogens at the s... \n", + "996 Galectin-3 and corneal nerve regeneration \n", + "997 Circadian interventions against glioblastoma \n", + "998 Structure and Function of Porphyromonas gingiv... \n", + "999 Molecular pathogenesis of COVID-19-associated ... \n", + "\n", + " phr_text \\\n", + "0 PROJECT NARRATIVE\\nGlaucoma is one of the lead... \n", + "1 NARRATIVE\\nExercise is an extremely efficient ... \n", + "2 Project Narrative\\nThe purpose of this propose... \n", + "3 PROJECT NARRATIVE\\nGenerating hematopoietic st... \n", + "4 Project Narrative\\n Many mutations (about 6%) ... \n", + ".. ... \n", + "995 PROJECT NARRATIVE\\nDuring the onset of vertebr... \n", + "996 Narrative\\nThis application centers on a major... \n", + "997 Project Narrative\\nGlioblastoma (GBM) is a dea... \n", + "998 PROJECT NARRATIVE\\nPorphyromonas gingivalis is... \n", + "999 Project Narrative\\nSARS-CoV-2 is the virus res... \n", + "\n", + " project_detail_url \\\n", + "0 https://reporter.nih.gov/project-details/10680039 \n", + "1 https://reporter.nih.gov/project-details/10781117 \n", + "2 https://reporter.nih.gov/project-details/10794511 \n", + "3 https://reporter.nih.gov/project-details/10995484 \n", + "4 https://reporter.nih.gov/project-details/10863278 \n", + ".. ... \n", + "995 https://reporter.nih.gov/project-details/10779240 \n", + "996 https://reporter.nih.gov/project-details/10779801 \n", + "997 https://reporter.nih.gov/project-details/10779902 \n", + "998 https://reporter.nih.gov/project-details/10780744 \n", + "999 https://reporter.nih.gov/project-details/10781805 \n", + "\n", + " pref_terms appl_id \\\n", + "0 Adherence;Adverse effects;Affect;Animal Model;... 10680039 \n", + "1 Address;Afferent Neurons;Amides;Animals;Automo... 10781117 \n", + "2 Acceleration;Affect;Applications Grants;Autoim... 10794511 \n", + "3 Adult;Anatomy;Aorta;Area;Automobile Driving;Ba... 10995484 \n", + "4 Affinity Chromatography;Amino Acids;Biological... 10863278 \n", + ".. ... ... \n", + "995 Address;Architecture;Attention;Behavioral Assa... 10779240 \n", + "996 Adverse effects;Afferent Neurons;Affinity;Anat... 10779801 \n", + "997 ARNTL gene;Acceleration;Affect;Aftercare;Apopt... 10779902 \n", + "998 Architecture;Bacteria;Bacterial Infections;Bac... 10780744 \n", + "999 2019-nCoV;ACE2;Address;Androgens;Automobile Dr... 10781805 \n", + "\n", + " project_num Gard_name_(dis/syn_removed) \\\n", + "0 1F30EY035173-01 None \n", + "1 1R01NS134976-01 None \n", + "2 1R34AR082551-01A1 {'systemic sclerosis': [1.0, 0.8300272226333618]} \n", + "3 4R00HL164969-03 {'lymphoma': [0.9, 0.7282528877258301]} \n", + "4 1R21CA280163-01A1 None \n", + ".. ... ... \n", + "995 1R01GM152611-01 None \n", + "996 1R01EY035702-01 {'neurotrophic keratopathy': [0.7, 0.801246285... \n", + "997 1R01NS134885-01 {'glioblastoma': [1.0, 0.8965370655059814]} \n", + "998 1R01DE033452-01 None \n", + "999 1R01HL172048-01 {'severe acute respiratory syndrome': [0.9, 0.... \n", + "\n", + " Gard_name_(dis/syn_not_removed) are_similar? ... \\\n", + "0 None True ... \n", + "1 None True ... \n", + "2 {'systemic sclerosis': [1.0, 0.8300272226333618]} True ... \n", + "3 {'lymphoma': [0.9, 0.7282528877258301]} True ... \n", + "4 None True ... \n", + ".. ... ... ... \n", + "995 None True ... \n", + "996 {'neurotrophic keratopathy': [0.7, 0.801246285... True ... \n", + "997 {'glioblastoma': [1.0, 0.8965370655059814]} True ... \n", + "998 None True ... \n", + "999 {'severe acute respiratory syndrome': [0.9, 0.... True ... \n", + "\n", + " GARD_1_not_has_common GARD_2_not_has_common GARD_3_not_has_common \\\n", + "0 NaN NaN NaN \n", + "1 NaN NaN NaN \n", + "2 False NaN NaN \n", + "3 False NaN NaN \n", + "4 NaN NaN NaN \n", + ".. ... ... ... \n", + "995 NaN NaN NaN \n", + "996 False NaN NaN \n", + "997 False NaN NaN \n", + "998 NaN NaN NaN \n", + "999 False NaN NaN \n", + "\n", + " GARD_4_not_has_common GARD_5_not_has_common GARD_1_has_common \\\n", + "0 NaN NaN NaN \n", + "1 NaN NaN NaN \n", + "2 NaN NaN False \n", + "3 NaN NaN False \n", + "4 NaN NaN NaN \n", + ".. ... ... ... \n", + "995 NaN NaN NaN \n", + "996 NaN NaN False \n", + "997 NaN NaN False \n", + "998 NaN NaN NaN \n", + "999 NaN NaN False \n", + "\n", + " GARD_2_has_common GARD_3_has_common GARD_4_has_common \\\n", + "0 NaN NaN NaN \n", + "1 NaN NaN NaN \n", + "2 NaN NaN NaN \n", + "3 NaN NaN NaN \n", + "4 NaN NaN NaN \n", + ".. ... ... ... \n", + "995 NaN NaN NaN \n", + "996 NaN NaN NaN \n", + "997 NaN NaN NaN \n", + "998 NaN NaN NaN \n", + "999 NaN NaN NaN \n", + "\n", + " GARD_5_has_common \n", + "0 NaN \n", + "1 NaN \n", + "2 NaN \n", + "3 NaN \n", + "4 NaN \n", + ".. ... \n", + "995 NaN \n", + "996 NaN \n", + "997 NaN \n", + "998 NaN \n", + "999 NaN \n", + "\n", + "[1000 rows x 33 columns]" + ] + }, + "execution_count": 128, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "import pandas as pd\n", + "\n", + "\n", + "# Function to check if any word in the synonyms is common with terms\n", + "def check_common(row):\n", + " #'Synonyms_(dis/syn_removed)', 'Synonyms_(dis/syn_not_removed)'\n", + " synonyms = row['Synonyms_(dis/syn_removed)']\n", + " terms = set(row['terms'])\n", + " result = {}\n", + " n=1\n", + " if synonyms:\n", + " for key, values in synonyms.items():\n", + " for value in values:\n", + " result[f'GARD_{n}_has_common'] = value in terms\n", + " n+=1\n", + " return pd.Series(result)\n", + "# Apply the function to each row and concatenate the results\n", + "new_columns_df = df2.apply(check_common, axis=1)\n", + "df3 = pd.concat([df2, new_columns_df], axis=1)\n", + "\n", + "df3" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "1O5_zzgNU_Mk" + }, + "outputs": [], + "source": [ + "df3.to_csv('sample__5_eval.csv', index=False)" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "rFQoxc6iwKfx" + }, + "outputs": [], + "source": [ + "import pandas as pd\n", + "Abstract3 = pd.read_csv('/content/sample__2_eval.csv')\n" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "id": "4GAfLUoe1Urp" + }, + "outputs": [], + "source": [ + "# Merge df_with_urls into Abstract1 based on 'Title'\n", + "Abstract4 = pd.merge(Abstract3, df_with_urls, how='left', left_on='project_title', right_on='Title')\n", + "Abstract4=Abstract4.drop(['Title'],axis=1)" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 808 + }, + "id": "eOb6nIfz3Psn", + "outputId": "d3395aa9-c502-40fb-b2cc-c340d0da706e" + }, + "outputs": [ + { + "data": { + "application/vnd.google.colaboratory.intrinsic+json": { + "summary": "{\n \"name\": \"Abstract3\",\n \"rows\": 1260,\n \"fields\": [\n {\n \"column\": \"abstract_text\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 979,\n \"samples\": [\n \"PROJECT SUMMARY / ABSTRACT\\nAll animal behaviors and cognition require precise assembly of neural circuits. Despite a highly complex\\nenvironment in the central nervous system, neurons faithfully recognize their precise partners and establish\\nsynaptic connections. Precise connectivity has been well demonstrated across many organisms, but the\\nmechanisms underlying this specificity remain unclear. Cell surfaces proteins (CSPs) have been implicated in\\nestablishing correct connectivity, specifically by serving as \\u201cidentification tags\\u201d. In Drosophila, two CSP\\nsubfamilies of the immunoglobulin superfamily (IgSF), the Dprs and DIPs, have garnered significant attention\\ndue to their multifaceted roles in nervous system development. The 32 members of the Dpr and DIP\\nsubfamilies are GPI-anchored, and several interacting pairs were demonstrated to have roles in instructing\\nconnectivity in several circuits. For example, DIP-\\u03b1 is required for instructing connectivity between motor\\nneurons (MNs) and muscles in the motor system and between interneurons (INs) in the visual circuit. Our\\npreliminary data suggests that DIP-\\u03b1 localizes to the dendrites of MNs as well, suggesting a potential role in\\nIN-MN recognition. Despite their fundamental roles in various circuits, the signaling mechanism(s) underlying\\nDIP/Dpr functions remains unclear. This proposal will test two non-mutually exclusive hypotheses: Aim 1) DIPs\\nand Dprs instruct IN-MN connectivity and Aim 2) DIPs and Dprs interact with other CSP co-receptors to\\ntransduce cellular signals. I will focus on DIP-\\u03b1 because of its implications in connectivity, cell survival, and\\nsynaptic development; however, I hypothesize that some signaling components will be shared between\\nDpr/DIP members. In Aim 1, I will reconstruct MN dendrite morphology and synaptic connectivity between a\\nMN and its presynaptic INs. I will determine if known DIP-\\u03b1 interactors, Dpr6/10, are required and investigate\\nthe functional outcome of disrupting DIP-\\u03b1-dependent connectivity. In Aim 2, I will use proximity labeling to\\nuncover candidate DIP-\\u03b1 co-receptors in an unbiased manner, and I will validate them biochemically and\\ngenetically. This proposal will combine interdisciplinary and innovative approaches, including optogenetics,\\nelectrophysiology, biochemistry, microscopy, proteomics, and bioinformatics to elucidate fundamental\\nmechanisms underlying synaptic connectivity. The proposed work will address significant knowledge gaps in\\ncentral motor circuit connectivity and signaling mechanisms of GPI-anchored proteins. The vertebrate\\northologs of DIPs/Dprs, the IgLONs, are also GPI-anchored and are associated with various diseases,\\nincluding Alzheimer\\u2019s disease and autism spectrum disorder. Thus, our proposed study may also contribute to\\nour understanding of the molecular processes disrupted in specific neurological disorders.\",\n \"Project Summary/Abstract\\nRelatively little is known about SMARD1 and CMT2S and the disease-causing gene IGHMBP2 as it relates to\\ndisease development. Therapeutic options are, at best, minimal as no approved drugs exist. The objective of\\nthis project is to understand the consequences of disease-causing mutations in IGHMBP2 that result in SMA\\nwith Respiratory Distress (SMARD1) or Charcot Marie Tooth Type 2S (CMT2S). Towards this goal, we have\\ngenerated six Ighmbp2 mouse models that are based on patient mutations in IGHMBP2. These models represent\\nthe first, patient-based models of SMARD1 and CMT2S. Importantly, we demonstrate that each mutation thus\\nfar studied demonstrates distinct disease phenotypes.\\n These investigations are designed to further our understanding of IGHMBP2 and its functional significance\\nin disease development by utilizing the Ighmbp2 mouse models and complementary approaches: genetics and\\nbiochemistry. Aim I of this proposal examines the phenotypic and molecular changes that result from Ighmbp2\\nmutations R604X and H922Y and the effect of these mutations on disease progression and therapeutic efficacy.\\nExamining the similarities and differences between these mutations should provide valuable information towards\\nwhat molecular alterations result in the more severe SMARD1 or less severe CMT2S. Therapeutic studies\\nproposed will help us understand what aspects of disease pathology are altered and to what extent. Aim II utilizes\\nbiochemistry to investigate how these IGHMBP2 mutations effect IGHMBP2 function and the association of\\nproteins in IGHMBP2 pathways. RNA and protein stability, protein binding affinity, ATPase and helicase activity\\nand processivity for these mutants will be examined in the presence of absence of ABT1, a protein that binds\\nIGHMBP2 and increases IGHMBP2 ATPase and helicase activity and processivity. It will be important to\\ndetermine how each of these mutations alter IGHMBP2 biochemical function and how altered IGHMBP2\\nbiochemical function relates to disease. Our previous studies suggest that IGHMBP2-ABT1 function in 47S pre-\\nrRNA processing; Aim III expands on these studies. Our laboratory has developed reagents aimed at addressing\\nIGHMBP2-ABT1 function in neuronal and non-neuronal contexts. 47S pre-rRNA processing will be examined in\\nwild type and mutant contexts to determine whether and to what extent processing is altered. We will also ask\\nwhether any processing defects can be eliminated following therapeutic delivery of IGHMBP2 or ABT1.\\n Each Aim of this proposal should provide independent relevant information towards understanding disease\\ndevelopment and progression, IGHMBP2 biological processes and targets for therapeutic development.\\nDetermining the functional differences between IGHMBP2 mutations that result in SMARD1 versus CMT2S has\\nimportant therapeutic implications since a subtle increase in functionality can have profound clinical implications.\\n This proposal is a natural collaboration of MU investigators within molecular biology and neurodegenerative\\nfields. Each investigator provides their own unique expertise towards the successful completion of these Aims.\",\n \"ABSTRACT\\nChimeric antigen receptor (CAR) T-cells are a revolutionary cancer treatment, with the particular benefit of\\ngenerating memory T-cells that can last for years and suppress cancer relapse. CAR-expressing CD8+ T-cells\\nhave been shown to cure leukemia and other cancers in clinical trials with great success. However, many\\nchallenges remain before CAR-based immunotherapy can become widely adopted, particularly for solid tumors.\\nA major problem is that CAR T-cells become \\u201cexhausted\\u201d or \\u201cdysfunctional\\u201d and display decreased therapeutic\\neffectiveness when subjected to prolonged antigen stimulation in the tumor microenvironment. Elevated cytosolic\\ncalcium is associated with T-cell activation, and as such, calcium signaling activity can be used as a quantitative\\nmeasure of T-cell function or dysfunction. The history of calcium signaling over short and long periods of time\\nencodes information about the current functional capacity of the T-cell and the number of tumor cells encountered\\nin the past, and can be used both to evaluate populations or individual clones and to select for clones resistant\\nto exhaustion. However, imaging calcium signaling activity in vivo using traditional genetically encoded\\nfluorescent indicators presents unique challenges with T-cells and other highly mobile cell types, especially\\nwhen medium- to long-term activity tracking is required. There is currently no facile method to image calcium\\nsignals at the single-cell level over long time periods or to track calcium activity history in such a highly mobile\\ncell population, either in vitro or in vivo. In this project, we will use several distinct varieties of photoactive\\nfluorescent proteins coupled with a family of high-contrast bioluminescent calcium sensors to generate Optical\\nRecorders for Calcium (ORCas) capable of reporting short-, medium-, and long-term calcium signaling histories\\nin CAR T-cells upon repeated exposure to target tumor cells. We will additionally engineer the small molecule\\nsubstrates used to time-gate history recording for improved bioavailability and cell specificity, and to diversify the\\nwavelengths of light emitted by the bioluminescent sensor domains of these probes. The engineered ORCas will\\nultimately be used to (1) track the exhaustion status of CAR T-cells over long periods of repeated exposure to\\ntarget tumor cells, (2) enrich exhaustion-resistant populations of CAR T-cells from CRISPR knockout libraries,\\nand (3) quantitatively benchmark the exhaustion resistance of CAR T-cell clones. These probes will additionally\\nbe validated in CAR T-cells in vivo in a subcutaneous mouse tumor model. Ultimately, we anticipate that ORCas\\nwill be the first of a broad new class of genetically-encoded probes capable of recording specific biochemical\\nsignal history non-invasively in many disease models and therapeutic interventions.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"project_title\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 963,\n \"samples\": [\n \"Galectin-3 and corneal nerve regeneration\",\n \"ARFs, ORPs and the control of cell migration\",\n \"Research and Data Analysis Core (RDAC) - WA LHS E-STAR\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"phr_text\",\n \"properties\": {\n \"dtype\": \"string\",\n \"num_unique_values\": 916,\n \"samples\": [\n \"PROJECT NARRATIVE\\nWhile prior research has documented that transgender and/or nonbinary (TNB) college students experience\\nsignificant disparities in mental health outcomes, little attention has been paid to the ways in which campus\\npolicy environments have shaped these disparities, despite substantial campus-level variation in policies that\\nmay uniquely affect TNB students (e.g. counseling staff training and insurance coverage for gender affirming\\nhealthcare). Additionally, TNB students across intersections of racial/ethnic identities and socioeconomic\\nstatus may be differentially impacted by these policy environments due to unique structural vulnerabilities,\\nalthough no studies have explored this. The objectives of this project are thus to use unprecedented, national\\ndata from over 300 institutions to fill this gap and discern the role of campus policy environment in TNB mental\\nhealth disparities across intersecting social positions, with the goal of informing campus-level interventions for\\nan increasing and diverse population of TNB college students.\",\n \"PROJECT NARRATIVE\\nIn its most severe form, sepsis causes hypotension that can lead to organ failure and death, a process that is\\noften treated with vasopressor medications that raise blood pressure and increase blood flow to vital organs.\\nThis proposal will assess current practices for delivering vasopressors in sepsis and the association of these\\npractices with patient outcomes and complications, and will identify factors that influence provider decisions\\nabout how to administer vasopressors. The ultimate goal of this proposal is to inform future clinical trials to\\noptimize vasopressor delivery and improve sepsis outcomes.\",\n \"Project Narrative\\nImproving our knowledge of the structure and mechanisms of human and herpesvirus DNA replication\\nmachineries have tremendous significance for the future of medicine. Structure-based design of anticancer\\ncompounds targeting human DNA replication is underway, and the data generated by Project 1 will enable the\\ndevelopment of drugs selective to viral, bacterial, and potentially yeast polymerases\\u2014but not human proteins.\\nSuccessful completion of Project 2 will foster the discovery of novel medicines for treating a wide range of\\ndiseases caused by human herpesvirus and will also facilitate finding solutions to address the problem of drug\\nresistance in these infections.\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"are_similar?\",\n \"properties\": {\n \"dtype\": \"boolean\",\n \"num_unique_values\": 2,\n \"samples\": [\n false,\n true\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Gard_name_(dis/syn_removed)\",\n \"properties\": {\n \"dtype\": \"category\",\n \"num_unique_values\": 200,\n \"samples\": [\n \"{'non-specific syndromic intellectual disability': [1.0, 0.8671863079071045]}\",\n \"{'catecholaminergic polymorphic ventricular tachycardia': [0.7, 0.8330810070037842]}\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Gard_name_(dis/syn_not_removed)\",\n \"properties\": {\n \"dtype\": \"category\",\n \"num_unique_values\": 187,\n \"samples\": [\n \"{'osteosarcoma': [1.0, 0.8765318989753723]}\",\n \"{'glioblastoma': [0.7, 0.7403838634490967]}\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"ProjectDetailURL\",\n \"properties\": {\n \"dtype\": \"category\",\n \"num_unique_values\": 1,\n \"samples\": [\n \"https://reporter.nih.gov/project-details/10825849\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"ApplID\",\n \"properties\": {\n \"dtype\": \"number\",\n \"std\": 0,\n \"min\": 10825849,\n \"max\": 10825849,\n \"num_unique_values\": 1,\n \"samples\": [\n 10825849\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Synonyms_(dis/syn_removed)\",\n \"properties\": {\n \"dtype\": \"category\",\n \"num_unique_values\": 125,\n \"samples\": [\n \"{'acute lymphoblastic leukemia': ['acute lymphocytic leukemia', 'acute lymphoblastic leukemia', 'precursor lymphoid neoplasm', 'acute lymphoblastic leukemia/lymphoma', 'acut lymphocyt leukemia', 'acut lymphoblast leukemia', 'precursor lymphoid neoplasm', 'acut lymphoblast leukemialymphoma']}\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n },\n {\n \"column\": \"Synonyms_(dis/syn_not_removed)\",\n \"properties\": {\n \"dtype\": \"category\",\n \"num_unique_values\": 120,\n \"samples\": [\n \"{'severe acute respiratory syndrome': ['severe acute respiratory syndrome', 'sars-1', 'sars', 'sever acut respiratori syndrom', 'sars1']}\"\n ],\n \"semantic_type\": \"\",\n \"description\": \"\"\n }\n }\n ]\n}", + "type": "dataframe", + "variable_name": "Abstract3" + }, + "text/html": [ + "\n", + "
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0ABSTRACT: Alcohol is one of the most widely us...Effects of tACS on alcohol-induced cognitive a...PROJECT NARRATIVE\\nAlcohol exposure during ado...TrueNaNNaNhttps://reporter.nih.gov/project-details/1082584910825849{}{}
1Abstract (Administrative Core)\\nThe proposed T...Administrative CoreNaNTrueNaNNaNhttps://reporter.nih.gov/project-details/1082584910825849{}{}
2Abstract (Administrative Core)\\nThe proposed T...Administrative CoreNaNTrueNaNNaNhttps://reporter.nih.gov/project-details/1082584910825849{}{}
3Abstract (Administrative Core)\\nThe proposed T...Administrative CoreNaNTrueNaNNaNhttps://reporter.nih.gov/project-details/1082584910825849{}{}
4Abstract (Administrative Core)\\nThe proposed T...Administrative CoreNaNTrueNaNNaNhttps://reporter.nih.gov/project-details/1082584910825849{}{}
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1255PROJECT SUMMARY\\nThe overarching goal of this ...K01 Career Development AwardPROJECT NARRATIVE\\nPromoting physical activity...TrueNaNNaNhttps://reporter.nih.gov/project-details/1082584910825849{}{}
1256PROJECT SUMMARY/ABSTRACT\\n Drug-resistant epil...Optimization and mechanisms of electrical neur...PROJECT NARRATIVE\\n Drug-resistant epilepsy is...TrueNaNNaNhttps://reporter.nih.gov/project-details/1082584910825849{}{}
1257Project Abstract\\n The ability to efficiently ...Synaptic plasticity underlying sex differences...Project Narrative\\nAggression is often conside...TrueNaNNaNhttps://reporter.nih.gov/project-details/1082584910825849{}{}
1258PROJECT SUMMARY\\nAutism Spectrum Disorder (ASD...Ultra high-field (7T) in-vivo imaging for deta...PROJECT NARRATIVE\\nWhile the cerebellar dentat...TrueNaNNaNhttps://reporter.nih.gov/project-details/1082584910825849{}{}
1259Summary\\nApproximately 62,000 Americans develo...Developing an oral health screening tool for a...Narrative\\nHead and neck cancer therapy is ass...TrueNaNNaNhttps://reporter.nih.gov/project-details/1082584910825849{}{}
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"7e27b61d-81b0-4a0a-dca2-4477991234aa" + }, + "outputs": [ + { + "name": "stdout", + "output_type": "stream", + "text": [ + "Collecting sentence-transformers\n", + " Downloading sentence_transformers-2.3.1-py3-none-any.whl (132 kB)\n", + "\u001b[2K \u001b[90m━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━\u001b[0m \u001b[32m132.8/132.8 kB\u001b[0m \u001b[31m4.2 MB/s\u001b[0m eta \u001b[36m0:00:00\u001b[0m\n", + "\u001b[?25hRequirement already satisfied: torch in /usr/local/lib/python3.10/dist-packages (2.1.0+cu121)\n", + "Requirement already satisfied: transformers in /usr/local/lib/python3.10/dist-packages (4.35.2)\n", + "Requirement already satisfied: tqdm in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (4.66.1)\n", + "Requirement already satisfied: numpy in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (1.23.5)\n", + "Requirement already satisfied: scikit-learn in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (1.2.2)\n", 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(2.0.7)\n", + "Requirement already satisfied: certifi>=2017.4.17 in /usr/local/lib/python3.10/dist-packages (from requests->transformers) (2024.2.2)\n", + "Requirement already satisfied: threadpoolctl>=2.0.0 in /usr/local/lib/python3.10/dist-packages (from scikit-learn->sentence-transformers) (3.2.0)\n", + "Requirement already satisfied: mpmath>=0.19 in /usr/local/lib/python3.10/dist-packages (from sympy->torch) (1.3.0)\n", + "Installing collected packages: sentence-transformers\n", + "Successfully installed sentence-transformers-2.3.1\n" + ] + } + ], + "source": [ + "!pip install sentence-transformers torch transformers\n", + "import pandas as pd\n", + "from sentence_transformers import SentenceTransformer, util\n", + "from transformers import AutoTokenizer, AutoModel\n", + "import torch\n", + "\n", + "def is_about_term(input_text, target_term, model_name):\n", + " # Load the specified model and tokenizer\n", + " tokenizer = AutoTokenizer.from_pretrained(model_name)\n", + " model = AutoModel.from_pretrained(model_name)\n", + "\n", + " # Tokenize input text and target term\n", + " input_tokens = tokenizer(input_text, return_tensors=\"pt\", padding=True, truncation=True, max_length=512)\n", + " term_tokens = tokenizer(target_term, return_tensors=\"pt\", padding=True, truncation=True, max_length=512)\n", + "\n", + " # Get embeddings from the model\n", + " with torch.no_grad():\n", + " input_embedding = model(**input_tokens).last_hidden_state.mean(dim=1)\n", + " term_embedding = model(**term_tokens).last_hidden_state.mean(dim=1)\n", + "\n", + " # Calculate cosine similarity between text and term\n", + " similarity = util.pytorch_cos_sim(input_embedding, term_embedding)\n", + "\n", + " # Return similarity score\n", + " return similarity.item()\n", + "\n", + "# Define input texts and target terms\n", + "inputs = [\n", + " '''\n", + " Bilirubin encephalopathy is a rare neurological condition that occurs in some newborns with severe jaundice. Kernicterus is a condition where\n", + " very high bilirubin levels in the blood are deposited in the brain tissue causing irreversible damage to the brain.\n", + " ''',\n", + " '''\n", + " In type II or 'open lip' schizencephaly, the cleft extends through the hemispheres from the ependyma centrally to the pia\n", + " peripherally, without a connecting band of gray matter.\n", + " Familial occurrence of schizencephaly is rare, suggesting a lack of gene mutations that cause this type of malformation.\n", + " ''',\n", + " '''\n", + " Myopathies are a heterogeneous group of disorders primarily affecting the skeletal muscle structure, metabolism, or channel function.\n", + " They usually present with muscle weakness interfering in daily life activities.\n", + " Muscle pain is also a common finding and some myopathies are associated with rhabdomyolysis.\n", + " ''',\n", + " '''\n", + " Premature aging is when the typical effects of growing older happen early. It's when your body looks older than your actual age.\n", + " The most common signs of premature aging include: Skin changes like wrinkles, age spots, dryness, loss of skin tone, hyperpigmentation around your chest and sagging.\n", + " ''',\n", + " '''\n", + " Kaposi sarcoma is a disease in which cancer cells are found in the skin or mucous membranes that line the gastrointestinal (GI) tract, from mouth to anus, including the stomach and intestines.\n", + " These tumors appear as purple patches or nodules on the skin and/or mucous membranes and can spread to lymph nodes and lungs.\n", + " '''\n", + "]\n", + "\n", + "targets = [\n", + " \"Bilirubin encephalopathy\",\n", + " \"familial schizencephaly\",\n", + " \"skeletal muscle disease\",\n", + " \"premature aging\",\n", + " \"kaposi sarcoma\"\n", + "]\n", + "\n", + "# List of models to try\n", + "models_to_try = [\n", + " #\"bionlp/bluebert_pubmed_mimic_uncased_L-12_H-768_A-12\",\n", + " \"bionlp/bluebert_pubmed_mimic_uncased_L-24_H-1024_A-16\",\n", + " \"allenai/biomed_roberta_base\",\n", + " \"dmis-lab/biobert-v1.1\",\n", + " \"emilyalsentzer/Bio_ClinicalBERT\",\n", + " \"microsoft/BiomedNLP-PubMedBERT-base-uncased-abstract-fulltext\"\n", + "]\n", + "\n", + "# Store results in a dataframe\n", + "results_df = pd.DataFrame(columns=[\"Input\", \"Target\", *models_to_try])\n", + "\n", + "# Iterate over inputs and models\n", + "for input_text, target_term in zip(inputs, targets):\n", + " model_results = {}\n", + " for model_name in models_to_try:\n", + " similarity_score = is_about_term(input_text, target_term, model_name)\n", + " model_results[model_name] = similarity_score\n", + " results_df = results_df.append({\"Input\": input_text, \"Target\": target_term, **model_results}, ignore_index=True)\n", + "\n", + "display(results_df)\n" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 972 + }, + "id": "TgCifVpGoELh", + "outputId": "7ee73089-1b78-42d6-ab63-61dc278c985e" + }, + "outputs": [ + { + "name": "stderr", + "output_type": "stream", + "text": [ + ":42: FutureWarning: The frame.append method is deprecated and will be removed from pandas in a future version. Use pandas.concat instead.\n", + " results_df = results_df.append({\"Input\": input_text, \"Target\": target_term, **model_results}, ignore_index=True)\n", + ":42: FutureWarning: The frame.append method is deprecated and will be removed from pandas in a future version. Use pandas.concat instead.\n", + " results_df = results_df.append({\"Input\": input_text, \"Target\": target_term, **model_results}, ignore_index=True)\n", + ":42: FutureWarning: The frame.append method is deprecated and will be removed from pandas in a future version. Use pandas.concat instead.\n", + " results_df = results_df.append({\"Input\": input_text, \"Target\": target_term, **model_results}, ignore_index=True)\n", + ":42: FutureWarning: The frame.append method is deprecated and will be removed from pandas in a future version. Use pandas.concat instead.\n", + " results_df = results_df.append({\"Input\": input_text, \"Target\": target_term, **model_results}, ignore_index=True)\n", + ":42: FutureWarning: The frame.append method is deprecated and will be removed from pandas in a future version. Use pandas.concat instead.\n", + " results_df = results_df.append({\"Input\": input_text, \"Target\": target_term, **model_results}, ignore_index=True)\n" + ] + }, + { + "data": { + "text/html": [ + "\n", + "
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InputTargetbionlp/bluebert_pubmed_mimic_uncased_L-24_H-1024_A-16allenai/biomed_roberta_basedmis-lab/biobert-v1.1emilyalsentzer/Bio_ClinicalBERTmicrosoft/BiomedNLP-PubMedBERT-base-uncased-abstract-fulltext
0Range Rover Official Site — With Innovative Pi...Bilirubin encephalopathy0.4644370.9330700.7601080.7776680.918857
1Range Rover Official Site — With Innovative Pi...familial schizencephaly0.5357470.9289410.7475750.7914520.915208
2Range Rover Official Site — With Innovative Pi...skeletal muscle disease0.5171280.9287990.6671380.7445620.900734
3Range Rover Official Site — With Innovative Pi...premature aging0.3541410.9329440.6388390.7235260.884412
4Range Rover Official Site — With Innovative Pi...kaposi sarcoma0.5578180.9310900.7247330.8084010.903493
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Terrain Response''',\n", + " '''Range Rover Official Site — With Innovative Pivi Pro Infotainment, The Velar Helps Make More Of Your World.\n", + " Select The Model, Engine And Specification Before Personalizing Your Vehicle. Terrain Response''',\n", + " '''Range Rover Official Site — With Innovative Pivi Pro Infotainment, The Velar Helps Make More Of Your World.\n", + " Select The Model, Engine And Specification Before Personalizing Your Vehicle. Terrain Response''',\n", + " '''Range Rover Official Site — With Innovative Pivi Pro Infotainment, The Velar Helps Make More Of Your World.\n", + " Select The Model, Engine And Specification Before Personalizing Your Vehicle. Terrain Response''',\n", + " '''Range Rover Official Site — With Innovative Pivi Pro Infotainment, The Velar Helps Make More Of Your World.\n", + " Select The Model, Engine And Specification Before Personalizing Your Vehicle. Terrain Response'''\n", + " ]\n", + "\n", + "targets = [\n", + " \"Bilirubin encephalopathy\",\n", + " \"familial schizencephaly\",\n", + " \"skeletal muscle disease\",\n", + " \"premature aging\",\n", + " \"kaposi sarcoma\"\n", + "]\n", + "\n", + "# List of models to try\n", + "models_to_try = [\n", + " #\"bionlp/bluebert_pubmed_mimic_uncased_L-12_H-768_A-12\",\n", + " \"bionlp/bluebert_pubmed_mimic_uncased_L-24_H-1024_A-16\",\n", + " \"allenai/biomed_roberta_base\",\n", + " \"dmis-lab/biobert-v1.1\",\n", + " \"emilyalsentzer/Bio_ClinicalBERT\",\n", + " \"microsoft/BiomedNLP-PubMedBERT-base-uncased-abstract-fulltext\"\n", + "]\n", + "\n", + "# Store results in a dataframe\n", + "results_df = pd.DataFrame(columns=[\"Input\", \"Target\", *models_to_try])\n", + "\n", + "# Iterate over inputs and models\n", + "for input_text, target_term in zip(inputs, targets):\n", + " model_results = {}\n", + " for model_name in models_to_try:\n", + " similarity_score = is_about_term(input_text, target_term, model_name)\n", + " model_results[model_name] = similarity_score\n", + " results_df = results_df.append({\"Input\": input_text, \"Target\": target_term, **model_results}, ignore_index=True)\n", + "\n", + "display(results_df)" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 1000, + "referenced_widgets": [ + "386dac7b3eda4ed0a5185ede6c5d9968", + "02a2ee442b0b4cb486ca2f81872dc93e", + "8ca2ebee62cf4bc4a47e78992d025f9d", + "ac7f442a66b94706a27b8c0843f85492", + "e2677071d8e143adb2ddde4cdd916ce1", + "62aa5a380d6d48dbaf0b7590ce647a89", + "30f330bf1f0c4a578cdfe752ee8642c8", + "088173e67d9e429b92243b6a5a9e2078", + "826933f6e7d64929a716e859fdaf0529", + "7338908ae3ba4978970e55437c6ff83c", + "17409aac23324912a008723aca1fd79d", + "10c22964d0424af18e8b7be653da406c", + "c28861a289644a49ac94aa616e89f598", + "247052785c5b4ba6b84caf83b827600d", + "5e2c3b595296445482547354d549eb25", + 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InputTargetaverage_word_embeddings_glove.6B.300d
0\\n Bilirubin encephalopathy is a rare neuro...Bilirubin encephalopathy0.543502
1\\n In type II or 'open lip' schizencephaly,...familial schizencephaly0.411379
2\\n Myopathies are a heterogeneous group of ...skeletal muscle disease0.770394
3\\n Premature aging is when the typical effe...premature aging0.628617
4\\n Kaposi sarcoma is a disease in which can...kaposi sarcoma0.428985
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Compute embeddings for input text and target term\n", + " input_embedding = model.encode(input_text, convert_to_tensor=True)\n", + " term_embedding = model.encode(target_term, convert_to_tensor=True)\n", + "\n", + " # Calculate cosine similarity between text and term embeddings\n", + " similarity = util.pytorch_cos_sim(input_embedding, term_embedding)\n", + "\n", + " # Define a threshold for similarity\n", + " similarity_threshold = 0.7\n", + "\n", + " # Return True if similarity is above the threshold, indicating the text is about the term\n", + " return similarity.item() #> similarity_threshold\n", + "models_to_try=['average_word_embeddings_glove.6B.300d']\n", + "results_df = pd.DataFrame(columns=[\"Input\", \"Target\", *models_to_try])\n", + "\n", + "# Iterate over inputs and models\n", + "for input_text, target_term in zip(inputs, targets):\n", + " model_results = {}\n", + " for model_name in models_to_try:\n", + " similarity_score = is_about_term(input_text, target_term, model_name)\n", + " model_results[model_name] = similarity_score\n", + " results_df = results_df.append({\"Input\": input_text, \"Target\": target_term, **model_results}, ignore_index=True)\n", + "\n", + "display(results_df)\n" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 336, + "referenced_widgets": [ + "2f805250fe984c91a5b246b919b3cac0", + "5604282d5c8c4dac83e2098697dd2b2a", + "6ab881a311c1467193184c5ab3470224", + "82400c20b9f14f398dcdd0054782f2ea", + "66efbcf77b494008a9a4e9660306fa9f", + "41737fcf7da540d4baf75c05bf409dd6", + "511f78a67f4649af825090ebb2f9a724", + "2116fa882b9e43d5ae95c74904d2d049", + "5a457a5f784d48f48138a0d32c84d272", + "7ae492f56e56402cae1dea1110b8203c", + "2b2e91c0bd9d41cdac1c9534cc851c82", + "f64c67491af54efdbdb55c1a56f37263", + "675464cd95a54da2afe97c0582e04c26", + "bacc88d219614a878540621443a18b40", + "7ee5a33a2bdc430698ca3d3cb7c15441", + "3742640f98684a3e834b4e7e80d2810f", + "d1057d3653784b8694e4a0e15a6e29e9", + "82cba15bad1c439db9fe15ed7aff355f", + "6b1888696fda46fea8b359c06fbbe73c", + "5d6647fbf0a54a6db0b91a854273d116", + "6cf4eee6729e426e81efdec9d53aa102", + "39621c0f9d3249b5bbe65df8f3db4106", + "b075def2c36647bd86e1d6e172421c20", + "a1240f05653943b7b08c8304d78fd9ca", + "c88c8290d4164d7ebf6f11ccd5088cde", + "d75b0a6f8417495097d7e0abbd20d46d", + "c724fcdc53f3476cb9aee9bab87f5a52", + "28b9f11bf46d40c1ad6aa4f621eab49d", + "78869e57d86447728bb7607fb4f0b92c", + "f358d23a096345ddaf1f737511e5e3d2", + "1abc7ea0eb984ec9bf23bdbaa6e48437", + "0ad374f171794a9f930e0c92dc2a5055", + "ae652dd5350a4e1194a5074efca1d0df", + "2b1596762ade4a6da8be7a131a79f6bf", + "a8cb0f7e90ad4a889fe1ebe375db35fe", + "5aba5c74fecf4bc7a27c7a4ae41554a3", + "f2195a94ca4c42ebb5230497a8eb55f7", + "ea125f050e9e40f884326a3df504de73", + "825cbbb9f3584f44a7dfa95a2958d6f0", + "356e4341439d4968ba5e819ffd8dce83", + "a7bfdc0bc1ab49e5a18bf76a9ffd01ad", + "03e8c91cb13c4ad18ac463f669812f72", + "44156a2a9ad24003a79f30a56ae7ed7c", + "57d8f6f9673949a9b66d9d9c2f30d5ba", + "f50d93d9a8fb4ab3867cd0f39128f23c", + "e9da29188afb4e6c93b4bb7b21940e56", + "5b9d28a7cd744028a0a9ad090e19954f", + "2da4bd50a9924bf8a0370e29f5d0fdb8", + "c2cbd8693f9949b884b85b316f250017", + "40c805a9bebc4b57b53f22e52b6875df", + "b2880218dca84de8b9083cc151853286", + "8eaf825be6ad4cfbb051512346d7aab6", + "a1fa9f6a16a0439d8ac21750dcf67a4f", + "d66df117362a4212aece74df92b67b3b", + "aa98b57626d54604a3cbbbd761c7e3a9" + ] + }, + "id": "H4TaBSyspNxL", + "outputId": "b9dc3592-1510-477d-857c-4149571cba03" + }, + "outputs": [ + { + "name": "stderr", + "output_type": "stream", + "text": [ + "/usr/local/lib/python3.10/dist-packages/huggingface_hub/utils/_token.py:88: UserWarning: \n", + "The secret `HF_TOKEN` does not exist in your Colab secrets.\n", + "To authenticate with the Hugging Face Hub, create a token in your settings tab (https://huggingface.co/settings/tokens), set it as secret in your Google Colab and restart your session.\n", + "You will be able to reuse this secret in all of your notebooks.\n", + "Please note that authentication is recommended but still optional to access public models or datasets.\n", + " warnings.warn(\n" + ] + }, + { + "data": { + "application/vnd.jupyter.widget-view+json": { + "model_id": "2f805250fe984c91a5b246b919b3cac0", + "version_major": 2, + "version_minor": 0 + }, + "text/plain": [ + "tokenizer_config.json: 0%| | 0.00/28.0 [00:00 max_seq_length:\n", + " tokens = tokens[:max_seq_length-2] # Account for [CLS] and [SEP]\n", + "\n", + " input_ids = tokenizer.convert_tokens_to_ids(tokens)\n", + " input_ids = torch.tensor(input_ids).unsqueeze(0)\n", + "\n", + " # Forward pass to get the transformer output\n", + " with torch.no_grad():\n", + " output = model(input_ids)\n", + "\n", + " # Extract the output embeddings for the entire paragraph\n", + " embeddings = output.last_hidden_state.mean(dim=1).squeeze().numpy()\n", + "\n", + " return embeddings\n", + "#embedding = embed_paragraph_transformer(paragraph_text)\n", + "#print(\"Paragraph Embedding:\", embedding)\n", + "# Function to calculate cosine similarity\n", + "def calculate_cosine_similarity(embedding1, embedding2):\n", + " # Reshape the embeddings to be 2D arrays\n", + " if embedding1 and isinstance(embedding1, str):\n", + " if embedding2 and isinstance(embedding2, str):\n", + " embedding1 = embed_paragraph_transformer(embedding1).reshape(1, -1)\n", + " embedding2 = embed_paragraph_transformer(embedding2).reshape(1, -1)\n", + "\n", + " # Calculate cosine similarity\n", + " similarity = cosine_similarity(embedding1, embedding2)\n", + "\n", + " return similarity[0][0]\n", + " return None\n", + "\n", + "# Example usage:\n", + "paragraph_text = \"This proposal is being submitted as part of a program of training of a Research Scientist Development Award. The aim of this study is to investigate the distribution of glutamate dexarboxylase (GAD), tyrosine hydroxylase (TH), cholecystokinin (CCK), and Leu-Enkephalin (ENK) in the pre-frontal, cingulate, primary motor and visual cortex of monkey and man by means of the indirect peroxidase method for immunocytochemistry. These markers have been chosen because they represent well-knwon transmitter and neuropeptide systems present in cerbral cortex and primary anti-sera raised against them are currently available. Tissues will be processed for both light and electron microscopic evaluation. At the light microscopic level, determination of cell counts of neurones in the six layers of cortex will be made by morphometric analysis. The numbers of immunoreactive neurones for each marker will be expressed as a percentage of the total number of cells determined with Nissl-stained sections. Electron microscopic studies for both unreacted and immunoreacted tissues will be observed for the morphological features of cell bodies positive for a given marker, and the nature of the terminals it receives. Where two separate markers appear to interact, double-labelling immunocytochemistry will be applied. Cerbral cortex from both schizophrenic and Huntington disease brains will also be processed for similar morphometric and immunocytochemical studies at the light, and where feasible, the electron microscopic levels. Data from these pathological conditions associated with cognitive impairment will be compared with that obtained from control human and monkey experiments. The overall integrity of the cortical cytoarchitecture and associated markers will be evaluated for organizational disruptions in the disease state. \"\n", + "print(calculate_cosine_similarity(paragraph_text, 'arthrochalasia ehlers-danlos syndrome'))\n", + "print(calculate_cosine_similarity(paragraph_text, 'arterial tortuosity syndrome'))" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/", + "height": 386, + "referenced_widgets": [ + "28fa1349dd3445138755dc23242b99c8", + "56c287080376498eb2618d4a8f29dbd2", + "c483fa23ae164878945f67314bdeed2c", + "188f44c5055e40f189fa0753ffdab49e", + "3d3d6112e9f9485fa64fb2ead68e925a", + "ea9f2410b0eb4d969b53895d8a60daa9", + "2330fcd5c64a4c63b4288f2865aa732e", + "c3c89b1715fa43b088b5d9b1e89d5748", + "381cb4a171544649a2070db395be10e4", + "ca0950794c0c4bfc84ed004deca67440", + "4ba90f05a3c745b09177ce61c8674c8e", + "92defbd17e6545a086931a731a3203a1", + 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"execution_count": null, + "metadata": { + "id": "XeLBrVpHvAq4" + }, + "outputs": [], + "source": [ + "#ClinicalBERT\n", + "#BlueBERT\n", + "#scibert\n", + "#CamlUpper/large-scale-clinical-BERT\n", + "#" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "metadata": { + "colab": { + "base_uri": "https://localhost:8080/" + }, + "id": "53q2jUPNy8UG", + "outputId": "b69fd750-b22d-45a2-9ce9-61633070aeaa" + }, + "outputs": [ + { + "name": "stdout", + "output_type": "stream", + "text": [ + "Requirement already satisfied: sentence-transformers in /usr/local/lib/python3.10/dist-packages (2.3.0)\n", + "Requirement already satisfied: torch in /usr/local/lib/python3.10/dist-packages (2.1.0+cu121)\n", + "Requirement already satisfied: transformers in /usr/local/lib/python3.10/dist-packages (4.35.2)\n", + "Requirement already satisfied: tqdm in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (4.66.1)\n", + "Requirement already satisfied: numpy in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (1.23.5)\n", + "Requirement already satisfied: scikit-learn in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (1.2.2)\n", + "Requirement already satisfied: scipy in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (1.11.4)\n", + "Requirement already satisfied: nltk in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (3.8.1)\n", + "Requirement already satisfied: sentencepiece in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (0.1.99)\n", + "Requirement already satisfied: huggingface-hub>=0.15.1 in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (0.20.3)\n", + "Requirement already satisfied: Pillow in /usr/local/lib/python3.10/dist-packages (from sentence-transformers) (9.4.0)\n", + "Requirement already satisfied: filelock in /usr/local/lib/python3.10/dist-packages (from torch) (3.13.1)\n", + "Requirement already satisfied: typing-extensions in /usr/local/lib/python3.10/dist-packages (from torch) (4.5.0)\n", + "Requirement already satisfied: sympy in /usr/local/lib/python3.10/dist-packages (from torch) (1.12)\n", + "Requirement already satisfied: networkx in /usr/local/lib/python3.10/dist-packages (from torch) (3.2.1)\n", + "Requirement already satisfied: jinja2 in /usr/local/lib/python3.10/dist-packages (from torch) (3.1.3)\n", + "Requirement already satisfied: fsspec in /usr/local/lib/python3.10/dist-packages (from torch) (2023.6.0)\n", + "Requirement already satisfied: triton==2.1.0 in /usr/local/lib/python3.10/dist-packages (from torch) (2.1.0)\n", + "Requirement already satisfied: packaging>=20.0 in /usr/local/lib/python3.10/dist-packages (from transformers) (23.2)\n", + "Requirement already satisfied: pyyaml>=5.1 in /usr/local/lib/python3.10/dist-packages (from transformers) (6.0.1)\n", + "Requirement already satisfied: regex!=2019.12.17 in /usr/local/lib/python3.10/dist-packages (from transformers) (2023.6.3)\n", + "Requirement already satisfied: requests in /usr/local/lib/python3.10/dist-packages (from transformers) (2.31.0)\n", + "Requirement already satisfied: tokenizers<0.19,>=0.14 in /usr/local/lib/python3.10/dist-packages (from transformers) (0.15.1)\n", + "Requirement already satisfied: safetensors>=0.3.1 in /usr/local/lib/python3.10/dist-packages (from transformers) (0.4.1)\n", + "Requirement already satisfied: MarkupSafe>=2.0 in /usr/local/lib/python3.10/dist-packages (from jinja2->torch) (2.1.4)\n", + "Requirement already satisfied: click in /usr/local/lib/python3.10/dist-packages (from nltk->sentence-transformers) (8.1.7)\n", + "Requirement already satisfied: joblib in /usr/local/lib/python3.10/dist-packages (from nltk->sentence-transformers) (1.3.2)\n", + "Requirement already satisfied: charset-normalizer<4,>=2 in /usr/local/lib/python3.10/dist-packages (from requests->transformers) (3.3.2)\n", + "Requirement already satisfied: idna<4,>=2.5 in /usr/local/lib/python3.10/dist-packages (from requests->transformers) (3.6)\n", + "Requirement already satisfied: urllib3<3,>=1.21.1 in /usr/local/lib/python3.10/dist-packages (from requests->transformers) (2.0.7)\n", + "Requirement already satisfied: certifi>=2017.4.17 in /usr/local/lib/python3.10/dist-packages (from requests->transformers) (2023.11.17)\n", + "Requirement already satisfied: threadpoolctl>=2.0.0 in /usr/local/lib/python3.10/dist-packages (from scikit-learn->sentence-transformers) (3.2.0)\n", + "Requirement already satisfied: mpmath>=0.19 in /usr/local/lib/python3.10/dist-packages (from sympy->torch) (1.3.0)\n", + "0.7364452481269836\n", + "The text is about the term 'rhabdomyosarcoma'.\n" + ] + } + ], + "source": [ + "!pip install sentence-transformers torch transformers\n", + "from sentence_transformers import SentenceTransformer, util\n", + "from transformers import AutoTokenizer, AutoModel\n", + "import torch\n", + "\n", + "def is_about_term(input_text, target_term):\n", + " # Load ClinicalBERT model and tokenizer\n", + " model_name = \"emilyalsentzer/Bio_ClinicalBERT\"\n", + " # ClinicalBERT: \"emilyalsentzer/Bio_ClinicalBERT\"\n", + " tokenizer = AutoTokenizer.from_pretrained(model_name)\n", + " model = AutoModel.from_pretrained(model_name)\n", + "\n", + " # Tokenize input text and target term\n", + " input_tokens = tokenizer(input_text, return_tensors=\"pt\", padding=True, truncation=True, max_length=512)\n", + " term_tokens = tokenizer(target_term, return_tensors=\"pt\", padding=True, truncation=True, max_length=512)\n", + "\n", + " # Get embeddings from ClinicalBERT\n", + " with torch.no_grad():\n", + " input_embedding = model(**input_tokens).last_hidden_state.mean(dim=1)\n", + " term_embedding = model(**term_tokens).last_hidden_state.mean(dim=1)\n", + "\n", + " # Calculate cosine similarity between text and term\n", + " similarity = util.pytorch_cos_sim(input_embedding, term_embedding)\n", + "\n", + " # Define a threshold for similarity\n", + " similarity_threshold = 0.7\n", + "\n", + " # Return True if similarity is above the threshold, indicating the text is about the term\n", + " return similarity.item() #> similarity_threshold\n", + "\n", + "# Example usage\n", + "text_input = \"\"\"\n", + "The University of Utah proposes to participate as a member of the\n", + " Children's Cancer Study Group (CCSG) in the scientific design and execution\n", + " of cooperative clinical research studies of childhood malignant neoplastic dieases.\n", + " Utah's multi-disciplinary team of investigators have participated actively\n", + " in CCSG for sixteen consecutive years. For more than a decade,\n", + " Dr. Eugene Lahey led Utah's CCSG effort. In 1980, Dr. Richard O'Brien became\n", + " Utah's CCSG principal investigator. He recruited a number of younger\n", + " investigators with outstanding potential to supplement the experienced c\n", + " ontributors to Utah's CCSG effort. Over the past three years Utah has\n", + " aggressively enhanced its record of scientific and leadership contributions\n", + " to CCSG. Dr. O'Brien, a member of the CCSG Late Effects Committee, is\n", + " chairman of a proposed CCSG study (CCG-105N) expected to open for patient\n", + " entry in April 1984, which will prospectively evaluate the neuropsychological\n", + " effects of acute lymphoblastic leukemia (ALL) and its therapy. Dr. O'Brien is a member\n", + " of a new, first line ALL study (CCG-105) and is also a member of two other new CCSG studies\n", + " - Advanced Hodgkin's Disease (CCG-521) and Good Risk Medulloblastoma (CCG-923).\n", + " Each of these studies address questions concerning possible late effects of therapy,\n", + " an area of investigation in which Dr. O'Brien has special interest.\n", + " Dr. Carl Kjeldsberg has joined Dr. John Wilson as major pathologists\n", + " for CCSG lymphoma studies and they are responsible for\n", + " \"rapid review\" of all NHL specimens. As a result, Utah serves\n", + " as a Central Reference Pathology Laboratory for many of\n", + " the CCSG lymphoma studies. In addition, their investigative\n", + " work is defining the importance of histopathology in disease\n", + " management. Dr. Dale Johnson is Vice Chairman of\n", + " the Surgical Steering Committee, a member of the rhabdomyosarcoma study,\n", + " a new relapsed ALL study (CCG-112) and has written the surgical guidelines\n", + " for testicular biopsy for all ALL patients. Consequently, in the past three\n", + "\n", + " years under new leadership, there has been an impressive resurgance of Utah's scientific contributions to CCSG. Four Utah investigators are now key participants in more than half dozen new, first line CCSG studies, the results of which should be realized over the next few years. This recent record demonstrates the important role that Utah investigators play in the current and, particularly, the future scientific goals and accomplishments of CCSG.\"\"\"\n", + "target_term = \"rhabdomyosarcoma\"\n", + "\n", + "result = is_about_term(text_input, target_term)\n", + "\n", + "if result:\n", + " print(result)\n", + " print(f\"The text is about the term '{target_term}'.\")\n", + "else:\n", + " print(f\"The text is not about the term '{target_term}'.\")" + ] + } + ], + "metadata": { + "colab": { + "collapsed_sections": [ + "ZIH0efYTUcnz" + ], + "provenance": [] + }, + "kernelspec": { + "display_name": "Python 3", + "name": "python3" + }, + "language_info": { + "name": "python" + }, + "widgets": { + "application/vnd.jupyter.widget-state+json": { + "02a2ee442b0b4cb486ca2f81872dc93e": { + "model_module": "@jupyter-widgets/controls", + "model_module_version": "1.5.0", + "model_name": "HTMLModel", + "state": { + "_dom_classes": [], + "_model_module": 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